The Ion Channel project is a large-scale study of DNA sequence variation in 237 ion channel subunit genes derived from up to 500 individuals with epilepsy and 500 matched controls. DNA samples are derived from patients evaluated for epilepsy at the Texas Medical Center, as well as family and non-family-based control samples obtained from persons without history of neurological disease.
DNA sequencing is confined to the coding regions of target genes by PCR amplification of exon sequences from the genomes of individual subjects using specially designed primers. Each amplified product from each individual is then sequenced by standard Sanger sequencing methods. The DNA sequences are then compared to the reference human genome sequence (NCBI, Build 36) using the program SNPdetector v. 3. As of October 2007, we have analyzed 4,510 exon sequences from 237 genes with an average coverage of 150 people.
The results in the table on this page show the variants discovered by the SNPdetector software. A large sampling of the polymorphisms leading to amino acid changes have been validated by custom genotyping assay using Affymetrix MIP technology.
This data is being released ahead of final validation for the interest of the scientific community. It will be updated periodically and be submitted to dbSNP at the National Center for Biotechnology Information as new data become available.
The project is supported by research grants from the National Institute of Neurological Disorders and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI).
Caution: Since the table below is extremely large (more than 13,000 rows), your browser may take several seconds to load all the rows.
| SNP ID | Chr | Coord | Str | Flank sequence | dbSNP ID | Allele | Valid | SNP type | Accession | Gene | Codon | New codon | Protein pos | Ref codon | Codon pos | Exon pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EP_151749_114_SD3_13 | chr20 | 44096931 | + | TACACCACTG.ATGCCCAGGT | novel | A/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151749_351_SD3_13 | chr20 | 44097168 | + | CCCTCCCTAG.GAGCAATACC | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151749_65_SD3_13 | chr20 | 44096882 | + | AGCCCCATTT.CCCAATGCGC | rs11699481 | T/C | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151752_378_SD3_13 | chr20 | 44109795 | + | AAGATGGGGG.TGGGAGCAGA | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151752_399_SD3_13 | chr20 | 44109816 | + | GGCTTTGAGA.ATGGACAGGA | novel | A/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151755_37_SD3_13 | chr2 | 165953939 | + | TCTGAGTGAG.ATGACTTTGA | novel | G/A | unknown | coding_nonsynon | NM_001040142 | SCN2A2 | Asp | Asn | 1793 | GAT | 1 | N/A |
| EP_151755_37_SD3_13 | chr2 | 165953939 | + | TCTGAGTGAG.ATGACTTTGA | novel | G/A | unknown | coding_nonsynon | NM_021007 | SCN2A2 | Asp | Asn | 1793 | GAT | 1 | N/A |
| EP_151755_37_SD3_13 | chr2 | 165953939 | + | TCTGAGTGAG.ATGACTTTGA | novel | G/A | unknown | coding_nonsynon | NM_001040143 | SCN2A2 | Asp | Asn | 1793 | GAT | 1 | N/A |
| EP_151764_26_SD3_13 | chr20 | 44097355 | + | GAATAGTTTC.TGCTCCTTGT | novel | A/G | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_291_SD3_13 | chr20 | 44097620 | + | AGAAAAGGGA.GGATGGGGGG | rs2868365 | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_380_SD3_13 | chr20 | 44097709 | + | GAGGGATGAA.GGTTGAGAAT | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_388_SD3_13 | chr20 | 44097717 | + | AAGGGTTGAG.ATAGAGAGAA | rs3848723 | A/G | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_395_SD3_13 | chr20 | 44097724 | + | GAGAATAGAG.GAAGAGGAAG | novel | A/G | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_449_SD3_13 | chr20 | 44097778 | + | CTGGGGTGTT.GTAATGATGA | rs3746515 | C/T | by-cluster_by-frequency_by-2hit-2allele | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_85_SD3_13 | chr20 | 44097414 | + | CCACTTGCTC.CCCAGCCTCC | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151767_236_SD3_13 | chr20 | 44110134 | + | AACTGGAGGT.AGTGGTGAGG | rs12481488 | T/A | by-frequency_by-2hit-2allele | splice_region | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151767_286_SD3_13 | chr20 | 44110184 | + | TGAGTGCAAG.CTCAGGAGAC | rs12480008 | G/C | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_176_SD3_13 | chr20 | 44097709 | + | GAGGGATGAA.GGTTGAGAAT | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_184_SD3_13 | chr20 | 44097717 | + | AAGGGTTGAG.ATAGAGAGAA | rs3848723 | A/G | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_191_SD3_13 | chr20 | 44097724 | + | GAGAATAGAG.GAAGAGGAAG | novel | A/G | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_245_SD3_13 | chr20 | 44097778 | + | CTGGGGTGTT.GTAATGATGA | rs3746515 | C/T | by-cluster_by-frequency_by-2hit-2allele | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_365_SD3_13 | chr20 | 44097898 | + | CCTCTTCCTG.GGCTCACCTG | rs3848724 | C/A | by-cluster_by-frequency | coding_synon | NM_020708 | SLC12A5 | Arg | Arg | 119 | CGG | 1 | N/A |
| EP_151779_367_SD3_13 | chr20 | 44097900 | + | TCTTCCTGCG.CTCACCTGGG | novel | G/T | unknown | coding_synon | NM_020708 | SLC12A5 | Arg | Arg | 119 | CGG | 3 | N/A |
| EP_151779_87_SD3_13 | chr20 | 44097620 | + | AGAAAAGGGA.GGATGGGGGG | rs2868365 | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151791_36_SD3_13 | chr20 | 44098735 | + | CCCCACCCAG.CCACTGCGGC | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151794_223_SD3_13 | chr20 | 44113819 | + | TGATCCAGTC.GGGGGCCTCG | rs3746522 | C/T | by-cluster_by-frequency | coding_synon | NM_020708 | SLC12A5 | Ser | Ser | 760 | TCC | 3 | N/A |
| EP_151794_235_SD3_13 | chr20 | 44113831 | + | GGGGCCTCGG.GGGCTGCAGC | novel | G/T | unknown | coding_synon | NM_020708 | SLC12A5 | Gly | Gly | 764 | GGG | 3 | N/A |
| EP_151794_304_SD3_13 | chr20 | 44113900 | + | ATCATCAGAC.TGGAGGAACT | rs17344810 | G/A | by-frequency | coding_synon | NM_020708 | SLC12A5 | Thr | Thr | 787 | ACG | 3 | N/A |
| EP_151794_392_SD3_13 | chr20 | 44113988 | + | ACTGGATTTC.GCTCCTTTGG | rs4812988 | C/T | by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151800_117_SD3_13 | chr2 | 165704245 | + | GCACCACCAC.GAAACGGAAG | novel | T/A | unknown | coding_synon | NM_006922 | SCN3A | Thr | Thr | 677 | ACA | 3 | N/A |
| EP_151806_177_SD3_13 | chr20 | 44099282 | + | CTCTCGCTGA.ACCAGATTCT | novel | T/C | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151806_191_SD3_13 | chr20 | 44099296 | + | AGATTCTCCC.GCAGCTGGTG | novel | T/C | unknown | splice_region | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151806_248_SD3_13 | chr20 | 44099353 | + | AGTTTGGGGG.GCCGTGGGCC | rs3746519 | T/C | by-cluster_by-frequency | coding_synon | NM_020708 | SLC12A5 | Gly | Gly | 178 | GGT | 3 | N/A |
| EP_151806_395_SD3_13 | chr20 | 44099500 | + | TCCCTGGACA.CTCCTATAGG | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151821_445_SD3_13 | chr20 | 44102819 | + | TTAGTTTGGG.GCAATCTCTT | novel | G/C | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151836_274_SD3_13 | chr20 | 44103621 | + | ATCCAGGGAA.GCTGCAGGGA | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151836_60_SD3_13 | chr20 | 44103407 | + | ACGCTGTCTC.CCATGGCTTT | novel | G/A | unknown | coding_nonsynon | NM_020708 | SLC12A5 | Arg | His | 296 | CGC | 2 | N/A |
| EP_151854_276_SD3_13 | chr20 | 44118385 | + | AAGGACTCAA.TGCCATCGCT | rs2297201 | C/T | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151860_167_SD3_13 | chr2 | 165692690 | + | TTCTGAACCT.TTTCTGGCCT | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | Leu | Leu | 978 | CTC | 3 | N/A |
| EP_151863_127_SD3_13 | chr2 | 165655580 | + | AAATTACAAC.TCTGCTGGCT | novel | A/C | unknown | coding_nonsynon | NM_006922 | SCN3A | Ala | Ser | 1777 | GCT | 1 | N/A |
| EP_151863_202_SD3_13 | chr2 | 165655655 | + | ACACAATTCA.CCTGGCAGCT | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | His | His | 1732 | CAC | 3 | N/A |
| EP_151863_232_SD3_13 | chr2 | 165655685 | + | GAGACTGTGG.AACCCATCTG | novel | G/T | unknown | coding_nonsynon | NM_006922 | SCN3A | Gly | Arg | 1742 | GGG | 1 | N/A |
| EP_151863_79_SD3_13 | chr2 | 165655532 | + | ACATGTTCAA.TTTGAGACCT | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | Asn | Asn | 1691 | AAC | 3 | N/A |
| EP_151866_363_SD3_13 | chr20 | 44106014 | + | TTCTGGGGGA.GGGTGGGTAT | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151866_437_SD3_13 | chr20 | 44106088 | + | AGGGGCCTGT.GGAGGGAGGC | rs3746520 | G/A | by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151869_283_SD3_13 | chr20 | 44118572 | + | CCAGTCCTGT.TCCTCTGAGG | novel | C/T | unknown | coding_synon | NM_020708 | SLC12A5 | Val | Val | 1024 | GTC | 3 | N/A |
| EP_151869_96_SD3_13 | chr20 | 44118385 | + | AAGGACTCAA.TGCCATCGCT | rs2297201 | C/T | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151872_143_SD3_13 | chr2 | 165728425 | + | CCTAGGCAAT.TTTCAGCCCT | novel | G/A | unknown | coding_synon | NM_006922 | SCN3A | Leu | Leu | 215 | TTG | 1 | N/A |
| EP_151872_220_SD3_13 | chr2 | 165728502 | + | AGAAACTGGT.TAAGGTAGTA | novel | G/A | unknown | intron | NM_006922 | SCN3A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151881_207_SD3_13 | chr20 | 44107129 | + | AGAGCCTCAC.GGGGCCCCAC | novel | G/A | unknown | coding_synon | NM_020708 | SLC12A5 | Thr | Thr | 504 | ACG | 3 | N/A |
| EP_151881_31_SD3_13 | chr20 | 44106953 | + | GTATGGAGAC.TGCCCTGGAA | rs2297197 | C/G | by-submitter | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151884_110_SD3_13 | chr20 | 44118886 | + | GTGTCTTCCT.TTTTTCTGAC | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151893_168_SD3_13 | chr2 | 165654993 | + | AAACTAAATG.GAACTCCACT | novel | A/G | unknown | coding_nonsynon | NM_006922 | SCN3A | Gly | Glu | 1951 | GGG | 2 | N/A |
| EP_151893_175_SD3_13 | chr2 | 165655000 | + | ATGGGAACTC.ACTCCAGAAA | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | Ser | Ser | 1953 | TCC | 3 | N/A |
| EP_151896_328_SD3_13 | chr20 | 44108150 | + | CAACCCCAGG.AGTTCCCCAT | rs2297199 | A/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151908_73_SD3_13 | chr20 | 44091372 | + | ATCCCCGGAC.AGGGGCCGCG | novel | C/T | unknown | 5' UTR | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30192_161_SD3_13 | chr21 | 34658254 | + | GCTCGCTAAC.CCAGCAAGAA | novel | G/A | unknown | 5' UTR | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30192_48_SD3_13 | chr21 | 34658141 | + | TAAACATGTG.GTTCATAAAA | novel | G/A | unknown | promoter | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_140_SD3_13 | chr21 | 34664592 | + | AGAAAAGATC.GTTTTCCTAA | rs9305548 | C/T | by-cluster_by-2hit-2allele | intron | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_168_SD3_13 | chr21 | 34664620 | + | CGCCTATTTT.TTATTTAAAT | novel | A/G | unknown | intron | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_34_SD3_13 | chr21 | 34664486 | + | CAGTTTAAAG.CTAACAAAAT | novel | A/G | unknown | intron | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_365_SD3_13 | chr21 | 34664817 | + | ATGGTGATGA.TGGAATGTTC | novel | T/C | unknown | coding_nonsynon | NM_172201 | KCNE2 | Ile | Thr | 57 | ATT | 2 | N/A |
| EP_30194_88_SD3_13 | chr21 | 34664817 | + | ATGGTGATGA.TGGAATGTTC | novel | T/C | unknown | coding_nonsynon | NM_172201 | KCNE2 | Ile | Thr | 57 | ATT | 2 | N/A |
| EP_30196_349_SD3_13 | chr7 | 150302933 | + | GGGCCACGAC.AGGGGCGGGG | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Val | Met | 36 | GTG | 1 | N/A |
| EP_30196_349_SD3_13 | chr7 | 150302933 | + | GGGCCACGAC.AGGGGCGGGG | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Val | Met | 36 | GTG | 1 | N/A |
| EP_30197_23_SD3_13 | chr7 | 150287539 | + | AGAAGTGGAC.GGCCCACTTG | novel | A/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30197_23_SD3_13 | chr7 | 150287539 | + | AGAAGTGGAC.GGCCCACTTG | novel | A/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30200_102_SD3_13 | chr7 | 150285220 | + | GCACCCACTG.GCAGCGGCTT | novel | T/C | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30200_102_SD3_13 | chr7 | 150285220 | + | GCACCCACTG.GCAGCGGCTT | novel | T/C | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30200_254_SD3_13 | chr7 | 150285372 | + | TAGCACCTAA.ATAAAGGAGC | novel | G/C | unknown | coding_synon | NM_000238 | KCNH2 | Arg | Arg | 356 | CGT | 3 | N/A |
| EP_30200_254_SD3_13 | chr7 | 150285372 | + | TAGCACCTAA.ATAAAGGAGC | novel | G/C | unknown | coding_synon | NM_172056 | KCNH2 | Arg | Arg | 356 | CGT | 3 | N/A |
| EP_30201_178_SD3_13 | chr7 | 150283479 | + | CAGGCAGGCT.CAGGGAGCCA | novel | A/G | unknown | coding_nonsynon | NM_172057 | KCNH2 | Pro | Ser | 16 | CCC | 1 | N/A |
| EP_30201_178_SD3_13 | chr7 | 150283479 | + | CAGGCAGGCT.CAGGGAGCCA | novel | A/G | unknown | intron | NM_000238 | KCNH2 | Pro | Ser | 16 | CCC | 1 | N/A |
| EP_30201_178_SD3_13 | chr7 | 150283479 | + | CAGGCAGGCT.CAGGGAGCCA | novel | A/G | unknown | intron | NM_172056 | KCNH2 | Pro | Ser | 16 | CCC | 1 | N/A |
| EP_30201_338_SD3_13 | chr7 | 150283639 | + | CTTCTTTCTG.GGCCGGCACA | novel | G/A | unknown | 5' UTR | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_338_SD3_13 | chr7 | 150283639 | + | CTTCTTTCTG.GGCCGGCACA | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_338_SD3_13 | chr7 | 150283639 | + | CTTCTTTCTG.GGCCGGCACA | novel | G/A | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_369_SD3_13 | chr7 | 150283670 | + | TGGCTGGCCC.AGGGCTCTGA | novel | A/G | unknown | 5' UTR | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_369_SD3_13 | chr7 | 150283670 | + | TGGCTGGCCC.AGGGCTCTGA | novel | A/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_369_SD3_13 | chr7 | 150283670 | + | TGGCTGGCCC.AGGGCTCTGA | novel | A/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30202_83_SD3_13 | chr7 | 150280664 | + | CCCACACCTC.GCCTTCCCCG | novel | T/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Tyr | Asn | 107 | TAC | 1 | N/A |
| EP_30202_83_SD3_13 | chr7 | 150280664 | + | CCCACACCTC.GCCTTCCCCG | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Tyr | Asn | 447 | TAC | 1 | N/A |
| EP_30202_83_SD3_13 | chr7 | 150280664 | + | CCCACACCTC.GCCTTCCCCG | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Tyr | Asn | 447 | TAC | 1 | N/A |
| EP_30203_216_SD3_13 | chr7 | 150280591 | + | CCGGCCGCAT.GCCGTCCACT | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Ile | Ile | 149 | ATC | 3 | N/A |
| EP_30203_216_SD3_13 | chr7 | 150280591 | + | CCGGCCGCAT.GCCGTCCACT | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Ile | Ile | 489 | ATC | 3 | N/A |
| EP_30203_216_SD3_13 | chr7 | 150280591 | + | CCGGCCGCAT.GCCGTCCACT | novel | C/T | unknown | coding_synon | NM_172056 | KCNH2 | Ile | Ile | 489 | ATC | 3 | N/A |
| EP_30203_288_SD3_13 | chr7 | 150280663 | + | TGCTCATCTT.GGCTCTGGCT | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Phe | Phe | 173 | TTC | 3 | N/A |
| EP_30203_288_SD3_13 | chr7 | 150280663 | + | TGCTCATCTT.GGCTCTGGCT | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Phe | Phe | 513 | TTC | 3 | N/A |
| EP_30203_288_SD3_13 | chr7 | 150280663 | + | TGCTCATCTT.GGCTCTGGCT | novel | C/T | unknown | coding_synon | NM_172056 | KCNH2 | Phe | Phe | 513 | TTC | 3 | N/A |
| EP_30204_126_SD3_13 | chr7 | 150279743 | + | TTCCCTGTCC.CCAGCTGATC | novel | T/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Phe | Leu | 217 | TTT | 3 | N/A |
| EP_30204_126_SD3_13 | chr7 | 150279743 | + | TTCCCTGTCC.CCAGCTGATC | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Phe | Leu | 557 | TTT | 3 | N/A |
| EP_30204_126_SD3_13 | chr7 | 150279743 | + | TTCCCTGTCC.CCAGCTGATC | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Phe | Leu | 557 | TTT | 3 | N/A |
| EP_30204_136_SD3_13 | chr7 | 150279753 | + | CCCAGCTGAT.GGGCTGCTGA | novel | T/C | unknown | coding_synon | NM_172057 | KCNH2 | Ile | Ile | 181 | ATC | 3 | N/A |
| EP_30204_136_SD3_13 | chr7 | 150279753 | + | CCCAGCTGAT.GGGCTGCTGA | novel | T/C | unknown | coding_synon | NM_000238 | KCNH2 | Ile | Ile | 521 | ATC | 3 | N/A |
| EP_30204_136_SD3_13 | chr7 | 150279753 | + | CCCAGCTGAT.GGGCTGCTGA | novel | T/C | unknown | coding_synon | NM_172056 | KCNH2 | Ile | Ile | 521 | ATC | 3 | N/A |
| EP_30204_265_SD3_13 | chr7 | 150279882 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30204_265_SD3_13 | chr7 | 150279882 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30204_265_SD3_13 | chr7 | 150279882 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30204_68_SD3_13 | chr7 | 150279685 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | coding_synon | NM_172057 | KCNH2 | Pro | Pro | 237 | CCA | 1 | N/A |
| EP_30204_68_SD3_13 | chr7 | 150279685 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | coding_synon | NM_000238 | KCNH2 | Pro | Pro | 577 | CCA | 1 | N/A |
| EP_30204_68_SD3_13 | chr7 | 150279685 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | coding_synon | NM_172056 | KCNH2 | Pro | Pro | 577 | CCA | 1 | N/A |
| EP_30205_126_SD3_13 | chr7 | 150279515 | + | TTCCCTGTCC.CCAGCTGATC | novel | C/T | unknown | coding_nonsynon | NM_172057 | KCNH2 | Asn | Lys | 293 | AAC | 3 | N/A |
| EP_30205_126_SD3_13 | chr7 | 150279515 | + | TTCCCTGTCC.CCAGCTGATC | novel | C/T | unknown | coding_nonsynon | NM_000238 | KCNH2 | Asn | Lys | 633 | AAC | 3 | N/A |
| EP_30205_126_SD3_13 | chr7 | 150279515 | + | TTCCCTGTCC.CCAGCTGATC | novel | C/T | unknown | coding_nonsynon | NM_172056 | KCNH2 | Asn | Lys | 633 | AAC | 3 | N/A |
| EP_30205_265_SD3_13 | chr7 | 150279654 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | His | Pro | 247 | CAC | 2 | N/A |
| EP_30205_265_SD3_13 | chr7 | 150279654 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | His | Pro | 587 | CAC | 2 | N/A |
| EP_30205_265_SD3_13 | chr7 | 150279654 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | coding_nonsynon | NM_172056 | KCNH2 | His | Pro | 587 | CAC | 2 | N/A |
| EP_30205_373_SD3_13 | chr7 | 150279762 | + | ACAACAGCAG.GGCCTGGGCG | novel | C/T | unknown | coding_nonsynon | NM_172057 | KCNH2 | Phe | Tyr | 211 | TTC | 2 | N/A |
| EP_30205_373_SD3_13 | chr7 | 150279762 | + | ACAACAGCAG.GGCCTGGGCG | novel | C/T | unknown | coding_nonsynon | NM_000238 | KCNH2 | Phe | Tyr | 551 | TTC | 2 | N/A |
| EP_30205_373_SD3_13 | chr7 | 150279762 | + | ACAACAGCAG.GGCCTGGGCG | novel | C/T | unknown | coding_nonsynon | NM_172056 | KCNH2 | Phe | Tyr | 551 | TTC | 2 | N/A |
| EP_30205_382_SD3_13 | chr7 | 150279771 | + | GCGGCCTGGG.GGCCCCTCCA | novel | T/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Ala | Asp | 208 | GCC | 2 | N/A |
| EP_30205_382_SD3_13 | chr7 | 150279771 | + | GCGGCCTGGG.GGCCCCTCCA | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Ala | Asp | 548 | GCC | 2 | N/A |
| EP_30205_382_SD3_13 | chr7 | 150279771 | + | GCGGCCTGGG.GGCCCCTCCA | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Ala | Asp | 548 | GCC | 2 | N/A |
| EP_30205_53_SD3_13 | chr7 | 150279442 | + | GATGCTCGCT.TGAGGGCCGC | novel | C/G | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_53_SD3_13 | chr7 | 150279442 | + | GATGCTCGCT.TGAGGGCCGC | novel | C/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_53_SD3_13 | chr7 | 150279442 | + | GATGCTCGCT.TGAGGGCCGC | novel | C/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_68_SD3_13 | chr7 | 150279457 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_68_SD3_13 | chr7 | 150279457 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_68_SD3_13 | chr7 | 150279457 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_115_SD3_13 | chr7 | 150278969 | + | CCCTCATGTA.GCTAGCATCT | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Ser | Ser | 366 | TCC | 3 | N/A |
| EP_30206_115_SD3_13 | chr7 | 150278969 | + | CCCTCATGTA.GCTAGCATCT | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Ser | Ser | 706 | TCC | 3 | N/A |
| EP_30206_115_SD3_13 | chr7 | 150278969 | + | CCCTCATGTA.GCTAGCATCT | novel | C/T | unknown | coding_synon | NM_172056 | KCNH2 | Ser | Ser | 706 | TCC | 3 | N/A |
| EP_30206_343_SD3_13 | chr7 | 150279197 | + | TGGCAGGCTG.GAAGAGTGGG | novel | G/C | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_343_SD3_13 | chr7 | 150279197 | + | TGGCAGGCTG.GAAGAGTGGG | novel | G/C | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_343_SD3_13 | chr7 | 150279197 | + | TGGCAGGCTG.GAAGAGTGGG | novel | G/C | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_344_SD3_13 | chr7 | 150279198 | + | GGCAGGCTGG.AAGAGTGGGG | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_344_SD3_13 | chr7 | 150279198 | + | GGCAGGCTGG.AAGAGTGGGG | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_344_SD3_13 | chr7 | 150279198 | + | GGCAGGCTGG.AAGAGTGGGG | novel | G/A | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30207_101_SD3_13 | chr7 | 150278205 | + | CACCCTGCCC.CAGGTGCTGA | novel | C/A | unknown | coding_synon | NM_172057 | KCNH2 | Val | Val | 454 | GTC | 3 | N/A |
| EP_30207_101_SD3_13 | chr7 | 150278205 | + | CACCCTGCCC.CAGGTGCTGA | novel | C/A | unknown | coding_synon | NM_000238 | KCNH2 | Val | Val | 794 | GTC | 3 | N/A |
| EP_30207_101_SD3_13 | chr7 | 150278205 | + | CACCCTGCCC.CAGGTGCTGA | novel | C/A | unknown | coding_synon | NM_172056 | KCNH2 | Val | Val | 794 | GTC | 3 | N/A |
| EP_30207_44_SD3_13 | chr7 | 150278148 | + | ATGGTGGAGT.GAGTGTGGGT | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30207_44_SD3_13 | chr7 | 150278148 | + | ATGGTGGAGT.GAGTGTGGGT | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30207_44_SD3_13 | chr7 | 150278148 | + | ATGGTGGAGT.GAGTGTGGGT | novel | G/A | unknown | coding_synon | NM_172056 | KCNH2 | Ser | Ser | 813 | TCT | 3 | N/A |
| EP_30208_305_SD3_13 | chr7 | 150278140 | + | GAGAGGAGCC.CACGTGGGGT | novel | C/T | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30208_305_SD3_13 | chr7 | 150278140 | + | GAGAGGAGCC.CACGTGGGGT | novel | C/T | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30208_305_SD3_13 | chr7 | 150278140 | + | GAGAGGAGCC.CACGTGGGGT | novel | C/T | unknown | coding_nonsynon | NM_172056 | KCNH2 | Pro | Leu | 858 | CCC | 2 | N/A |
| EP_30210_194_SD3_13 | chr7 | 150276557 | + | CGCACGGACA.GGGTGAGGCG | novel | A/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Lys | Thr | 557 | AAG | 2 | N/A |
| EP_30210_194_SD3_13 | chr7 | 150276557 | + | CGCACGGACA.GGGTGAGGCG | novel | A/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Lys | Thr | 897 | AAG | 2 | N/A |
| EP_30210_46_SD3_13 | chr7 | 150276409 | + | GGCCTGACCC.GGTGGGGCAG | novel | T/C | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30210_46_SD3_13 | chr7 | 150276409 | + | GGCCTGACCC.GGTGGGGCAG | novel | T/C | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_196_SD3_13 | chr7 | 150275695 | + | CGGGCGGGGG.AGGGCCGAGT | novel | C/T | unknown | coding_nonsynon | NM_172057 | KCNH2 | Ala | Val | 575 | GCA | 2 | N/A |
| EP_30211_196_SD3_13 | chr7 | 150275695 | + | CGGGCGGGGG.AGGGCCGAGT | novel | C/T | unknown | coding_nonsynon | NM_000238 | KCNH2 | Ala | Val | 915 | GCA | 2 | N/A |
| EP_30211_217_SD3_13 | chr7 | 150275716 | + | AGCCGGGGCC.GCCGGGGGGG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Arg | Gln | 582 | CGG | 2 | N/A |
| EP_30211_217_SD3_13 | chr7 | 150275716 | + | AGCCGGGGCC.GCCGGGGGGG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Arg | Gln | 922 | CGG | 2 | N/A |
| EP_30211_232_SD3_13 | chr7 | 150275731 | + | GGGGGGCCGT.GGGGGAGAGC | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Arg | Leu | 614 | CGC | 2 | N/A |
| EP_30211_232_SD3_13 | chr7 | 150275731 | + | GGGGGGCCGT.GGGGGAGAGC | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Arg | Leu | 954 | CGC | 2 | N/A |
| EP_30211_267_SD3_13 | chr7 | 150275766 | + | CTCCAGCCCT.AGAGCAGTGA | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | Lys | 599 | GAG | 1 | N/A |
| EP_30211_267_SD3_13 | chr7 | 150275766 | + | CTCCAGCCCT.AGAGCAGTGA | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | Lys | 939 | GAG | 1 | N/A |
| EP_30211_278_SD3_13 | chr7 | 150275777 | + | AGAGCAGTGA.GATGAGGGCC | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | STP | 599 | GAG | 1 | N/A |
| EP_30211_278_SD3_13 | chr7 | 150275777 | + | AGAGCAGTGA.GATGAGGGCC | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | STP | 939 | GAG | 1 | N/A |
| EP_30211_305_SD3_13 | chr7 | 150275804 | + | GCAGCTCCAG.CCCCTCCGCC | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Ser | Ser | 590 | AGC | 1 | N/A |
| EP_30211_305_SD3_13 | chr7 | 150275804 | + | GCAGCTCCAG.CCCCTCCGCC | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Ser | Ser | 930 | AGC | 1 | N/A |
| EP_30211_384_SD3_13 | chr7 | 150275883 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | Lys | 638 | GAG | 1 | N/A |
| EP_30211_384_SD3_13 | chr7 | 150275883 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | Lys | 978 | GAG | 1 | N/A |
| EP_30211_442_SD3_13 | chr7 | 150275941 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_442_SD3_13 | chr7 | 150275941 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_88_SD3_13 | chr7 | 150275587 | + | CCTCCACCCT.GCCCCCTCCT | novel | C/T | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_88_SD3_13 | chr7 | 150275587 | + | CCTCCACCCT.GCCCCCTCCT | novel | C/T | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30212_122_SD3_13 | chr7 | 150275389 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | Lys | 638 | GAG | 1 | N/A |
| EP_30212_122_SD3_13 | chr7 | 150275389 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | Lys | 978 | GAG | 1 | N/A |
| EP_30212_180_SD3_13 | chr7 | 150275447 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | coding_synon | NM_172057 | KCNH2 | Pro | Pro | 678 | CCC | 3 | N/A |
| EP_30212_180_SD3_13 | chr7 | 150275447 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | coding_synon | NM_000238 | KCNH2 | Pro | Pro | 1018 | CCC | 3 | N/A |
| EP_30212_455_SD3_13 | chr7 | 150275722 | + | CAGGTGGGGT.GGGGGGCACG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Pro | Leu | 617 | CCC | 2 | N/A |
| EP_30212_455_SD3_13 | chr7 | 150275722 | + | CAGGTGGGGT.GGGGGGCACG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Pro | Leu | 957 | CCC | 2 | N/A |
| EP_30212_471_SD3_13 | chr7 | 150275738 | + | GCACGCCCTG.AGTCTGGTCC | novel | C/G | unknown | coding_nonsynon | NM_172057 | KCNH2 | Pro | Ala | 612 | CCC | 1 | N/A |
| EP_30212_471_SD3_13 | chr7 | 150275738 | + | GCACGCCCTG.AGTCTGGTCC | novel | C/G | unknown | coding_nonsynon | NM_000238 | KCNH2 | Pro | Ala | 952 | CCC | 1 | N/A |
| EP_30214_385_SD3_13 | chr7 | 150273646 | + | GCTGCCCAGT.TGGACACGTG | novel | A/G | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_385_SD3_13 | chr7 | 150273646 | + | GCTGCCCAGT.TGGACACGTG | novel | A/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_471_SD3_13 | chr7 | 150273732 | + | CCGTGGAAGG.GAGAGGAACT | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_471_SD3_13 | chr7 | 150273732 | + | CCGTGGAAGG.GAGAGGAACT | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_71_SD3_13 | chr7 | 150273332 | + | CTTGGCTCTT.TCCCCTCCAG | novel | G/T | unknown | 3' UTR | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_71_SD3_13 | chr7 | 150273332 | + | CTTGGCTCTT.TCCCCTCCAG | novel | G/T | unknown | 3' UTR | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30217_53_SD3_13 | chr11 | 2439226 | + | TGAGCCGGCC.GGGCGGGGGT | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30217_53_SD3_13 | chr11 | 2439226 | + | TGAGCCGGCC.GGGCGGGGGT | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30217_53_SD3_13 | chr11 | 2439226 | + | TGAGCCGGCC.GGGCGGGGGT | novel | G/A | unknown | promoter | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_279_SD3_13 | chr11 | 2499439 | + | AGCTGCCCAC.TGTCTTTGCA | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_279_SD3_13 | chr11 | 2499439 | + | AGCTGCCCAC.TGTCTTTGCA | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_279_SD3_13 | chr11 | 2499439 | + | AGCTGCCCAC.TGTCTTTGCA | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_55_SD3_13 | chr11 | 2499215 | + | TCTGCTCATG.CCTTCCATGC | novel | T/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_55_SD3_13 | chr11 | 2499215 | + | TCTGCTCATG.CCTTCCATGC | novel | T/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_55_SD3_13 | chr11 | 2499215 | + | TCTGCTCATG.CCTTCCATGC | novel | T/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_206_SD3_13 | chr11 | 2505782 | + | TGTCCACCAT.GAGCAGTATG | rs1800170 | C/T | by-cluster_by-frequency | coding_synon | NM_000218 | KCNQ1 | Ile | Ile | 145 | ATC | 3 | N/A |
| EP_30219_206_SD3_13 | chr11 | 2505782 | + | TGTCCACCAT.GAGCAGTATG | rs1800170 | C/T | by-cluster_by-frequency | coding_synon | NM_181797 | KCNQ1 | Ile | Ile | 55 | ATC | 3 | N/A |
| EP_30219_206_SD3_13 | chr11 | 2505782 | + | TGTCCACCAT.GAGCAGTATG | rs1800170 | C/T | by-cluster_by-frequency | coding_synon | NM_181798 | KCNQ1 | Ile | Ile | 18 | ATC | 3 | N/A |
| EP_30219_333_SD3_13 | chr11 | 2505909 | + | ATAAGGTGGG.GGCAGAGCCA | novel | G/- | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_333_SD3_13 | chr11 | 2505909 | + | ATAAGGTGGG.GGCAGAGCCA | novel | G/- | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_333_SD3_13 | chr11 | 2505909 | + | ATAAGGTGGG.GGCAGAGCCA | novel | G/- | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_334_SD3_13 | chr11 | 2505910 | + | TAAGGTGGGG.GCAGAGCCAC | novel | -/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_334_SD3_13 | chr11 | 2505910 | + | TAAGGTGGGG.GCAGAGCCAC | novel | -/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_334_SD3_13 | chr11 | 2505910 | + | TAAGGTGGGG.GCAGAGCCAC | novel | -/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_335_SD3_13 | chr11 | 2505911 | + | AAGGTGGGGG.CAGAGCCACT | novel | G/- | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_335_SD3_13 | chr11 | 2505911 | + | AAGGTGGGGG.CAGAGCCACT | novel | G/- | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_335_SD3_13 | chr11 | 2505911 | + | AAGGTGGGGG.CAGAGCCACT | novel | G/- | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_55_SD3_13 | chr11 | 2505631 | + | CTGTCTGTTC.TACCTGGGGG | novel | C/- | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_55_SD3_13 | chr11 | 2505631 | + | CTGTCTGTTC.TACCTGGGGG | novel | C/- | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_55_SD3_13 | chr11 | 2505631 | + | CTGTCTGTTC.TACCTGGGGG | novel | C/- | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_61_SD3_13 | chr11 | 2505637 | + | GTTCCTACCT.GGGGCGGGGC | rs28730663 | G/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_61_SD3_13 | chr11 | 2505637 | + | GTTCCTACCT.GGGGCGGGGC | rs28730663 | G/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_61_SD3_13 | chr11 | 2505637 | + | GTTCCTACCT.GGGGCGGGGC | rs28730663 | G/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30220_76_SD3_13 | chr11 | 2548424 | + | GTCCCACTCT.TCCCTGCAGG | rs28730752 | G/A | unknown | splice_region | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30220_76_SD3_13 | chr11 | 2548424 | + | GTCCCACTCT.TCCCTGCAGG | rs28730752 | G/A | unknown | splice_region | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30220_76_SD3_13 | chr11 | 2548424 | + | GTCCCACTCT.TCCCTGCAGG | rs28730752 | G/A | unknown | splice_region | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30222_194_SD3_13 | chr11 | 2549855 | + | GGATGCTACA.GTCGACCGCC | rs28730754 | C/T | unknown | coding_synon | NM_000218 | KCNQ1 | His | His | 240 | CAC | 3 | N/A |
| EP_30222_194_SD3_13 | chr11 | 2549855 | + | GGATGCTACA.GTCGACCGCC | rs28730754 | C/T | unknown | coding_synon | NM_181797 | KCNQ1 | His | His | 150 | CAC | 3 | N/A |
| EP_30222_194_SD3_13 | chr11 | 2549855 | + | GGATGCTACA.GTCGACCGCC | rs28730754 | C/T | unknown | coding_synon | NM_181798 | KCNQ1 | His | His | 113 | CAC | 3 | N/A |
| EP_30223_234_SD3_13 | chr11 | 2550723 | + | ACCTGGCTGA.AAGGACGCGG | novel | G/A | unknown | coding_synon | NM_000218 | KCNQ1 | Glu | Glu | 284 | GAG | 3 | N/A |
| EP_30223_234_SD3_13 | chr11 | 2550723 | + | ACCTGGCTGA.AAGGACGCGG | novel | G/A | unknown | coding_synon | NM_181797 | KCNQ1 | Glu | Glu | 194 | GAG | 3 | N/A |
| EP_30223_234_SD3_13 | chr11 | 2550723 | + | ACCTGGCTGA.AAGGACGCGG | novel | G/A | unknown | coding_synon | NM_181798 | KCNQ1 | Glu | Glu | 157 | GAG | 3 | N/A |
| EP_30223_364_SD3_13 | chr11 | 2550853 | + | GTGGGCAGGA.ATCTGGGCAC | novel | T/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_364_SD3_13 | chr11 | 2550853 | + | GTGGGCAGGA.ATCTGGGCAC | novel | T/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_364_SD3_13 | chr11 | 2550853 | + | GTGGGCAGGA.ATCTGGGCAC | novel | T/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_46_SD3_13 | chr11 | 2550535 | + | CATGTGAACC.CGCTGGAGCG | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_46_SD3_13 | chr11 | 2550535 | + | CATGTGAACC.CGCTGGAGCG | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_46_SD3_13 | chr11 | 2550535 | + | CATGTGAACC.CGCTGGAGCG | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_64_SD3_13 | chr11 | 2550553 | + | GCGGCGTAGG.CGCCCAGTGA | rs4930127 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_64_SD3_13 | chr11 | 2550553 | + | GCGGCGTAGG.CGCCCAGTGA | rs4930127 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_64_SD3_13 | chr11 | 2550553 | + | GCGGCGTAGG.CGCCCAGTGA | rs4930127 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_82_SD3_13 | chr11 | 2550571 | + | TGATCGCTGG.ACTCGCTGCC | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_82_SD3_13 | chr11 | 2550571 | + | TGATCGCTGG.ACTCGCTGCC | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_82_SD3_13 | chr11 | 2550571 | + | TGATCGCTGG.ACTCGCTGCC | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30226_247_SD3_13 | chr11 | 2565469 | + | TCTGCTGTCA.CCAGCCCCAA | rs28730756 | G/C | unknown | coding_nonsynon | NM_000218 | KCNQ1 | Pro | Ala | 408 | CCC | 1 | N/A |
| EP_30226_247_SD3_13 | chr11 | 2565469 | + | TCTGCTGTCA.CCAGCCCCAA | rs28730756 | G/C | unknown | coding_nonsynon | NM_181797 | KCNQ1 | Pro | Ala | 318 | CCC | 1 | N/A |
| EP_30226_247_SD3_13 | chr11 | 2565469 | + | TCTGCTGTCA.CCAGCCCCAA | rs28730756 | G/C | unknown | coding_nonsynon | NM_181798 | KCNQ1 | Pro | Ala | 281 | CCC | 1 | N/A |
| EP_30226_274_SD3_13 | chr11 | 2565496 | + | GAAGTCTGTG.TGGTGAGTAG | novel | G/C | unknown | coding_nonsynon | NM_000218 | KCNQ1 | Val | Leu | 417 | GTG | 1 | N/A |
| EP_30226_274_SD3_13 | chr11 | 2565496 | + | GAAGTCTGTG.TGGTGAGTAG | novel | G/C | unknown | coding_nonsynon | NM_181797 | KCNQ1 | Val | Leu | 327 | GTG | 1 | N/A |
| EP_30226_274_SD3_13 | chr11 | 2565496 | + | GAAGTCTGTG.TGGTGAGTAG | novel | G/C | unknown | coding_nonsynon | NM_181798 | KCNQ1 | Val | Leu | 290 | GTG | 1 | N/A |
| EP_30227_107_SD3_13 | chr11 | 2566459 | + | CTCTGGGGCC.GCGTAGGGCC | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_107_SD3_13 | chr11 | 2566459 | + | CTCTGGGGCC.GCGTAGGGCC | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_107_SD3_13 | chr11 | 2566459 | + | CTCTGGGGCC.GCGTAGGGCC | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_337_SD3_13 | chr11 | 2566689 | + | GTTGGGGGCC.CGGGGCCGGG | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_337_SD3_13 | chr11 | 2566689 | + | GTTGGGGGCC.CGGGGCCGGG | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_337_SD3_13 | chr11 | 2566689 | + | GTTGGGGGCC.CGGGGCCGGG | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_109_SD3_13 | chr11 | 2639728 | + | GCAGGTTGGG.GGGAGGCCTA | rs739502 | T/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_109_SD3_13 | chr11 | 2639728 | + | GCAGGTTGGG.GGGAGGCCTA | rs739502 | T/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_109_SD3_13 | chr11 | 2639728 | + | GCAGGTTGGG.GGGAGGCCTA | rs739502 | T/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_209_SD3_13 | chr11 | 2639828 | + | CCAACAGCTT.GCCGAGGACC | rs17215465 | T/C | by-cluster_by-frequency | coding_synon | NM_000218 | KCNQ1 | Phe | Phe | 485 | TTC | 3 | N/A |
| EP_30228_209_SD3_13 | chr11 | 2639828 | + | CCAACAGCTT.GCCGAGGACC | rs17215465 | T/C | by-cluster_by-frequency | coding_synon | NM_181797 | KCNQ1 | Phe | Phe | 395 | TTC | 3 | N/A |
| EP_30228_209_SD3_13 | chr11 | 2639828 | + | CCAACAGCTT.GCCGAGGACC | rs17215465 | T/C | by-cluster_by-frequency | coding_synon | NM_181798 | KCNQ1 | Phe | Phe | 358 | TTC | 3 | N/A |
| EP_30228_314_SD3_13 | chr11 | 2639933 | + | AGGGGACTGG.GCTCAAGGAG | rs760419 | A/G | by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_314_SD3_13 | chr11 | 2639933 | + | AGGGGACTGG.GCTCAAGGAG | rs760419 | A/G | by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_314_SD3_13 | chr11 | 2639933 | + | AGGGGACTGG.GCTCAAGGAG | rs760419 | A/G | by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_318_SD3_13 | chr11 | 2639937 | + | GACTGGAGCT.AAGGAGTCAG | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_318_SD3_13 | chr11 | 2639937 | + | GACTGGAGCT.AAGGAGTCAG | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_318_SD3_13 | chr11 | 2639937 | + | GACTGGAGCT.AAGGAGTCAG | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_211_SD3_13 | chr11 | 2746739 | + | AGCCCTGTGC.GAGCCTTCCT | novel | T/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_211_SD3_13 | chr11 | 2746739 | + | AGCCCTGTGC.GAGCCTTCCT | novel | T/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_211_SD3_13 | chr11 | 2746739 | + | AGCCCTGTGC.GAGCCTTCCT | novel | T/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_67_SD3_13 | chr11 | 2746595 | + | GGGCAGTGAG.GGATGACCAG | rs2075870 | G/A | by-cluster_by-frequency | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_67_SD3_13 | chr11 | 2746595 | + | GGGCAGTGAG.GGATGACCAG | rs2075870 | G/A | by-cluster_by-frequency | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_67_SD3_13 | chr11 | 2746595 | + | GGGCAGTGAG.GGATGACCAG | rs2075870 | G/A | by-cluster_by-frequency | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_91_SD3_13 | chr11 | 2746619 | + | AGGGTGGCCA.TCACAATCTC | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_91_SD3_13 | chr11 | 2746619 | + | AGGGTGGCCA.TCACAATCTC | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_91_SD3_13 | chr11 | 2746619 | + | AGGGTGGCCA.TCACAATCTC | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30230_187_SD3_13 | chr11 | 2753813 | + | AGCAGTACTC.CAGGGCCACC | rs1057128 | G/A | by-submitter | coding_synon | NM_000218 | KCNQ1 | Ser | Ser | 546 | TCG | 3 | N/A |
| EP_30230_187_SD3_13 | chr11 | 2753813 | + | AGCAGTACTC.CAGGGCCACC | rs1057128 | G/A | by-submitter | coding_synon | NM_181797 | KCNQ1 | Ser | Ser | 456 | TCG | 3 | N/A |
| EP_30230_187_SD3_13 | chr11 | 2753813 | + | AGCAGTACTC.CAGGGCCACC | rs1057128 | G/A | by-submitter | coding_synon | NM_181798 | KCNQ1 | Ser | Ser | 419 | TCG | 3 | N/A |
| EP_30230_270_SD3_13 | chr11 | 2753896 | + | GAGGGTGCCC.GGTCCTGCCC | rs163150 | G/A | by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30230_270_SD3_13 | chr11 | 2753896 | + | GAGGGTGCCC.GGTCCTGCCC | rs163150 | G/A | by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30230_270_SD3_13 | chr11 | 2753896 | + | GAGGGTGCCC.GGTCCTGCCC | rs163150 | G/A | by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30231_124_SD3_13 | chr11 | 2754881 | + | CAGCCTGCAA.GGACTCTCCC | rs81204 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30231_124_SD3_13 | chr11 | 2754881 | + | CAGCCTGCAA.GGACTCTCCC | rs81204 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30231_124_SD3_13 | chr11 | 2754881 | + | CAGCCTGCAA.GGACTCTCCC | rs81204 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_217_SD3_13 | chr11 | 2755875 | + | CGGTGGTTCT.GTTAGCGTCC | novel | G/T | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_217_SD3_13 | chr11 | 2755875 | + | CGGTGGTTCT.GTTAGCGTCC | novel | G/T | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_217_SD3_13 | chr11 | 2755875 | + | CGGTGGTTCT.GTTAGCGTCC | novel | G/T | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_287_SD3_13 | chr11 | 2755945 | + | TGCAGGCCTC.CCACCTTCCC | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_287_SD3_13 | chr11 | 2755945 | + | TGCAGGCCTC.CCACCTTCCC | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_287_SD3_13 | chr11 | 2755945 | + | TGCAGGCCTC.CCACCTTCCC | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_71_SD3_13 | chr11 | 2755729 | + | CCAGCTGGGG.CCCCGGCCCA | novel | T/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_71_SD3_13 | chr11 | 2755729 | + | CCAGCTGGGG.CCCCGGCCCA | novel | T/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_71_SD3_13 | chr11 | 2755729 | + | CCAGCTGGGG.CCCCGGCCCA | novel | T/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30233_319_SD3_13 | chr11 | 2825764 | + | TGCCCACCTA.GAGCAGCTGA | rs11601907 | C/T | by-cluster_by-frequency | coding_synon | NM_000218 | KCNQ1 | Tyr | Tyr | 662 | TAC | 3 | N/A |
| EP_30233_319_SD3_13 | chr11 | 2825764 | + | TGCCCACCTA.GAGCAGCTGA | rs11601907 | C/T | by-cluster_by-frequency | coding_synon | NM_181797 | KCNQ1 | Tyr | Tyr | 572 | TAC | 3 | N/A |
| EP_30233_319_SD3_13 | chr11 | 2825764 | + | TGCCCACCTA.GAGCAGCTGA | rs11601907 | C/T | by-cluster_by-frequency | coding_synon | NM_181798 | KCNQ1 | Tyr | Tyr | 535 | TAC | 3 | N/A |
| EP_30233_445_SD3_13 | chr11 | 2825890 | + | TGAAGGAGGC.ACCTCCTAAA | novel | A/C | unknown | 3' UTR | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30233_445_SD3_13 | chr11 | 2825890 | + | TGAAGGAGGC.ACCTCCTAAA | novel | A/C | unknown | 3' UTR | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30233_445_SD3_13 | chr11 | 2825890 | + | TGAAGGAGGC.ACCTCCTAAA | novel | A/C | unknown | 3' UTR | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30234_171_SD3_13 | chr3 | 38649585 | + | AGCGCATGGC.GAGAAGCAAG | novel | G/A | unknown | coding_synon | NM_000335 | SCN5A | Ala | Ala | 29 | GCA | 3 | N/A |
| EP_30234_171_SD3_13 | chr3 | 38649585 | + | AGCGCATGGC.GAGAAGCAAG | novel | G/A | unknown | coding_synon | NM_198056 | SCN5A | Ala | Ala | 29 | GCA | 3 | N/A |
| EP_30234_408_SD3_13 | chr3 | 38649822 | + | CAACTCCCTT.TCAATGGAGC | novel | G/A | unknown | 5' UTR | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30234_408_SD3_13 | chr3 | 38649822 | + | CAACTCCCTT.TCAATGGAGC | novel | G/A | unknown | 5' UTR | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30235_149_SD3_13 | chr3 | 38646846 | + | CTACACAAGG.CCTAATGCTA | novel | G/A | unknown | coding_nonsynon | NM_000335 | SCN5A | His | Tyr | 118 | CAC | 1 | N/A |
| EP_30235_149_SD3_13 | chr3 | 38646846 | + | CTACACAAGG.CCTAATGCTA | novel | G/A | unknown | coding_nonsynon | NM_198056 | SCN5A | His | Tyr | 118 | CAC | 1 | N/A |
| EP_30235_150_SD3_13 | chr3 | 38646847 | + | TACACAAGGG.CTAATGCTAC | novel | C/T | unknown | coding_nonsynon | NM_000335 | SCN5A | Phe | Leu | 117 | TTC | 3 | N/A |
| EP_30235_150_SD3_13 | chr3 | 38646847 | + | TACACAAGGG.CTAATGCTAC | novel | C/T | unknown | coding_nonsynon | NM_198056 | SCN5A | Phe | Leu | 117 | TTC | 3 | N/A |
| EP_30235_326_SD3_13 | chr3 | 38647023 | + | CTGAGTACCC.CTGGGGGCCC | novel | C/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30235_326_SD3_13 | chr3 | 38647023 | + | CTGAGTACCC.CTGGGGGCCC | novel | C/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_160_SD3_13 | chr3 | 38623108 | + | CGGAGGGCTA.CGGTGCCTAA | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_160_SD3_13 | chr3 | 38623108 | + | CGGAGGGCTA.CGGTGCCTAA | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_368_SD3_13 | chr3 | 38623316 | + | CCCCAGCAGC.TCCCCACTGG | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_368_SD3_13 | chr3 | 38623316 | + | CCCCAGCAGC.TCCCCACTGG | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_375_SD3_13 | chr3 | 38623323 | + | AGCCTCCCCA.TGGTGGGAGC | novel | C/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_375_SD3_13 | chr3 | 38623323 | + | AGCCTCCCCA.TGGTGGGAGC | novel | C/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_381_SD3_13 | chr3 | 38623329 | + | CCCACTGGTG.GAGCTTTGGA | novel | A/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_381_SD3_13 | chr3 | 38623329 | + | CCCACTGGTG.GAGCTTTGGA | novel | A/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30242_138_SD3_13 | chr3 | 38622463 | + | CTTGCTCCCC.AGACCCTCAG | novel | C/A | unknown | coding_nonsynon | NM_000335 | SCN5A | Leu | Phe | 441 | CTC | 1 | N/A |
| EP_30242_138_SD3_13 | chr3 | 38622463 | + | CTTGCTCCCC.AGACCCTCAG | novel | C/A | unknown | coding_nonsynon | NM_198056 | SCN5A | Leu | Phe | 441 | CTC | 1 | N/A |
| EP_30243_101_SD3_13 | chr3 | 38621140 | + | TGATGGAAAC.TCCGTTCCTC | novel | G/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_101_SD3_13 | chr3 | 38621140 | + | TGATGGAAAC.TCCGTTCCTC | novel | G/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_167_SD3_13 | chr3 | 38621206 | + | CCGTAGCTCC.TGGAGATGTC | novel | T/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_167_SD3_13 | chr3 | 38621206 | + | CCGTAGCTCC.TGGAGATGTC | novel | T/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_415_SD3_13 | chr3 | 38621454 | + | TCTGCGCTTC.TGTTTCCCAT | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_415_SD3_13 | chr3 | 38621454 | + | TCTGCGCTTC.TGTTTCCCAT | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_157_SD3_13 | chr3 | 38620283 | + | AAGCCACGTT.CAGCCGCGGG | novel | C/A | unknown | coding_nonsynon | NM_000335 | SCN5A | Gly | Val | 605 | GGG | 2 | N/A |
| EP_30244_157_SD3_13 | chr3 | 38620283 | + | AAGCCACGTT.CAGCCGCGGG | novel | C/A | unknown | coding_nonsynon | NM_198056 | SCN5A | Gly | Val | 605 | GGG | 2 | N/A |
| EP_30244_259_SD3_13 | chr3 | 38620385 | + | GAGAGCCACC.CACATCACTG | novel | A/G | unknown | coding_nonsynon | NM_000335 | SCN5A | His | Arg | 558 | CAC | 2 | N/A |
| EP_30244_259_SD3_13 | chr3 | 38620385 | + | GAGAGCCACC.CACATCACTG | novel | A/G | unknown | coding_nonsynon | NM_198056 | SCN5A | His | Arg | 558 | CAC | 2 | N/A |
| EP_30244_521_SD3_13 | chr3 | 38620647 | + | GTCTGGTCTC.CAAACTGATC | novel | C/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_521_SD3_13 | chr3 | 38620647 | + | GTCTGGTCTC.CAAACTGATC | novel | C/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_526_SD3_13 | chr3 | 38620652 | + | GTCTCCCAAA.TGATCACCAG | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_526_SD3_13 | chr3 | 38620652 | + | GTCTCCCAAA.TGATCACCAG | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30246_176_SD3_13 | chr3 | 38614251 | + | GAGTGCTGCC.GCTGTGGATG | novel | C/T | unknown | coding_nonsynon | NM_000335 | SCN5A | Phe | Leu | 745 | TTC | 3 | N/A |
| EP_30246_176_SD3_13 | chr3 | 38614251 | + | GAGTGCTGCC.GCTGTGGATG | novel | C/T | unknown | coding_nonsynon | NM_198056 | SCN5A | Phe | Leu | 745 | TTC | 3 | N/A |
| EP_30250_114_SD3_13 | chr3 | 38597318 | + | ACCAAGAAGA.GATGAGGAGA | novel | G/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30250_114_SD3_13 | chr3 | 38597318 | + | ACCAAGAAGA.GATGAGGAGA | novel | G/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30251_231_SD3_13 | chr3 | 38595799 | + | GCGACTGCCT.CTCTGAGGCC | novel | C/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30251_231_SD3_13 | chr3 | 38595799 | + | GCGACTGCCT.CTCTGAGGCC | novel | C/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_359_SD3_13 | chr3 | 38593397 | + | GGTAATGGCC.GGGCAGCCCT | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_359_SD3_13 | chr3 | 38593397 | + | GGTAATGGCC.GGGCAGCCCT | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_421_SD3_13 | chr3 | 38593459 | + | AGCAGCTCCT.GGAGCCCAGG | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_421_SD3_13 | chr3 | 38593459 | + | AGCAGCTCCT.GGAGCCCAGG | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30254_349_SD3_13 | chr3 | 38583041 | + | GGAGCCAGTA.GCTGAAGGGG | novel | G/C | unknown | coding_nonsynon | NM_000335 | SCN5A | Ile | Val | 1234 | ATC | 1 | N/A |
| EP_30254_349_SD3_13 | chr3 | 38583041 | + | GGAGCCAGTA.GCTGAAGGGG | novel | G/C | unknown | coding_nonsynon | NM_198056 | SCN5A | Ile | Val | 1235 | ATC | 1 | N/A |
| EP_30256_180_SD3_13 | chr3 | 38576859 | + | GGGTCTTGAA.AGGGCATGTG | novel | A/C | unknown | coding_nonsynon | NM_000335 | SCN5A | Ile | Ser | 1342 | ATC | 2 | N/A |
| EP_30256_180_SD3_13 | chr3 | 38576859 | + | GGGTCTTGAA.AGGGCATGTG | novel | A/C | unknown | coding_nonsynon | NM_198056 | SCN5A | Ile | Ser | 1343 | ATC | 2 | N/A |
| EP_30258_25_SD3_13 | chr3 | 38573659 | + | TTCTCTGACC.CCCAGGCATT | novel | A/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30258_25_SD3_13 | chr3 | 38573659 | + | TTCTCTGACC.CCCAGGCATT | novel | A/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30258_287_SD3_13 | chr3 | 38573921 | + | AGGCTCCTGG.TGCTTGGCCA | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30258_287_SD3_13 | chr3 | 38573921 | + | AGGCTCCTGG.TGCTTGGCCA | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30259_116_SD3_13 | chr3 | 38572848 | + | CCCTGTGTGA.TTCTCCCTTG | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30259_116_SD3_13 | chr3 | 38572848 | + | CCCTGTGTGA.TTCTCCCTTG | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30259_332_SD3_13 | chr3 | 38573064 | + | GGGATTGAGG.GCCACTCAGG | novel | G/A | unknown | coding_nonsynon | NM_000335 | SCN5A | Gln | STP | 1436 | CAG | 1 | N/A |
| EP_30259_332_SD3_13 | chr3 | 38573064 | + | GGGATTGAGG.GCCACTCAGG | novel | G/A | unknown | coding_nonsynon | NM_198056 | SCN5A | Gln | STP | 1437 | CAG | 1 | N/A |
| EP_30260_361_SD3_13 | chr3 | 38572309 | + | CAGCCATCAG.GCCGCTTCAC | novel | A/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_361_SD3_13 | chr3 | 38572309 | + | CAGCCATCAG.GCCGCTTCAC | novel | A/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_364_SD3_13 | chr3 | 38572312 | + | CCATCAGAGC.GCTTCACAGT | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_364_SD3_13 | chr3 | 38572312 | + | CCATCAGAGC.GCTTCACAGT | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_77_SD3_13 | chr3 | 38572025 | + | AGGTGGTCAA.CCTGGCATCC | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_77_SD3_13 | chr3 | 38572025 | + | AGGTGGTCAA.CCTGGCATCC | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30267_142_SD3_13 | chr6 | 29708121 | + | GCGGGCGGGG.GCAGACCCCC | novel | T/C | unknown | coding_nonsynon | NM_001470 | GABBR1 | Ala | Val | 20 | GCG | 2 | N/A |
| EP_30267_142_SD3_13 | chr6 | 29708121 | + | GCGGGCGGGG.GCAGACCCCC | novel | T/C | unknown | coding_nonsynon | NM_021904 | GABBR1 | Ala | Val | 20 | GCG | 2 | N/A |
| EP_30267_142_SD3_13 | chr6 | 29708121 | + | GCGGGCGGGG.GCAGACCCCC | novel | T/C | unknown | coding_nonsynon | NM_021905 | GABBR1 | Ala | Val | 20 | GCG | 2 | N/A |
| EP_30267_161_SD3_13 | chr6 | 29708140 | + | CCAACGCCAC.TCAGAAGGTG | novel | G/C | unknown | coding_nonsynon | NM_001470 | GABBR1 | Met | Thr | 1 | ATG | 2 | N/A |
| EP_30267_161_SD3_13 | chr6 | 29708140 | + | CCAACGCCAC.TCAGAAGGTG | novel | G/C | unknown | coding_nonsynon | NM_021904 | GABBR1 | Met | Thr | 1 | ATG | 2 | N/A |
| EP_30267_161_SD3_13 | chr6 | 29708140 | + | CCAACGCCAC.TCAGAAGGTG | novel | G/C | unknown | coding_nonsynon | NM_021905 | GABBR1 | Met | Thr | 1 | ATG | 2 | N/A |
| EP_30267_192_SD3_13 | chr6 | 29708171 | + | CGACGACCTC.GGCCCTCCTT | novel | C/G | unknown | intron | NM_001470 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30267_192_SD3_13 | chr6 | 29708171 | + | CGACGACCTC.GGCCCTCCTT | novel | C/G | unknown | intron | NM_021904 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30267_192_SD3_13 | chr6 | 29708171 | + | CGACGACCTC.GGCCCTCCTT | novel | C/G | unknown | intron | NM_021905 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_021903 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_001470 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_021904 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_021905 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_021903 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_001470 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_021904 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_021905 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30356_229_SD3_13 | chr10 | 78538369 | + | GCCTCTGCTG.GGTAGAATCC | novel | C/T | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30356_229_SD3_13 | chr10 | 78538369 | + | GCCTCTGCTG.GGTAGAATCC | novel | C/T | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_36_SD3_13 | chr10 | 78520115 | + | TGCTAGCACC.CTGCTTTGCC | novel | G/A | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_36_SD3_13 | chr10 | 78520115 | + | TGCTAGCACC.CTGCTTTGCC | novel | G/A | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_41_SD3_13 | chr10 | 78520120 | + | GCACCGCTGC.TTGCCTCACT | novel | A/T | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_41_SD3_13 | chr10 | 78520120 | + | GCACCGCTGC.TTGCCTCACT | novel | A/T | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30360_141_SD3_13 | chr10 | 78509310 | + | CTCAAATGCT.CAGTATCACA | novel | T/G | unknown | coding_synon | NM_001014797 | KCNMA1 | Ile | Ile | 510 | ATC | 1 | N/A |
| EP_30360_141_SD3_13 | chr10 | 78509310 | + | CTCAAATGCT.CAGTATCACA | novel | T/G | unknown | coding_synon | NM_002247 | KCNMA1 | Ile | Ile | 510 | ATC | 1 | N/A |
| EP_30361_100_SD3_13 | chr10 | 78502875 | + | TCCCAGAAGA.ATGTTAAACA | novel | A/G | unknown | coding_synon | NM_001014797 | KCNMA1 | Arg | Arg | 579 | AGG | 1 | N/A |
| EP_30361_100_SD3_13 | chr10 | 78502875 | + | TCCCAGAAGA.ATGTTAAACA | novel | A/G | unknown | coding_synon | NM_002247 | KCNMA1 | Arg | Arg | 579 | AGG | 1 | N/A |
| EP_30364_213_SD3_13 | chr10 | 78448889 | + | CTTTCTGGCC.GGCTGTAGAC | novel | C/T | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30364_213_SD3_13 | chr10 | 78448889 | + | CTTTCTGGCC.GGCTGTAGAC | novel | C/T | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30365_125_SD3_13 | chr10 | 78441776 | + | AAGGCCTGTC.TGATGACATC | novel | A/T | unknown | coding_nonsynon | NM_001014797 | KCNMA1 | Asp | Asn | 687 | GAC | 1 | N/A |
| EP_30365_125_SD3_13 | chr10 | 78441776 | + | AAGGCCTGTC.TGATGACATC | novel | A/T | unknown | coding_nonsynon | NM_002247 | KCNMA1 | Asp | Asn | 683 | GAC | 1 | N/A |
| EP_30451_189_SD3_13 | chr2 | 165945950 | + | TACCTCGACC.GCTGTAAGAA | novel | T/C | unknown | coding_synon | NM_001040142 | SCN2A2 | Pro | Pro | 1516 | CCT | 3 | N/A |
| EP_30451_189_SD3_13 | chr2 | 165945950 | + | TACCTCGACC.GCTGTAAGAA | novel | T/C | unknown | coding_synon | NM_021007 | SCN2A2 | Pro | Pro | 1516 | CCT | 3 | N/A |
| EP_30451_189_SD3_13 | chr2 | 165945950 | + | TACCTCGACC.GCTGTAAGAA | novel | T/C | unknown | coding_synon | NM_001040143 | SCN2A2 | Pro | Pro | 1516 | CCT | 3 | N/A |
| EP_30451_253_SD3_13 | chr2 | 165946014 | + | TTCACAGCCC.AATTTCTAGA | novel | G/A | unknown | intron | NM_001040142 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30451_253_SD3_13 | chr2 | 165946014 | + | TTCACAGCCC.AATTTCTAGA | novel | G/A | unknown | intron | NM_021007 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30451_253_SD3_13 | chr2 | 165946014 | + | TTCACAGCCC.AATTTCTAGA | novel | G/A | unknown | intron | NM_001040143 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_448_SD3_13 | chr2 | 165951820 | + | TGGTAAAAAT.TGTGTTTTAA | rs6724440 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_001040142 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_448_SD3_13 | chr2 | 165951820 | + | TGGTAAAAAT.TGTGTTTTAA | rs6724440 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_021007 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_448_SD3_13 | chr2 | 165951820 | + | TGGTAAAAAT.TGTGTTTTAA | rs6724440 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_001040143 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_82_SD3_13 | chr2 | 165951454 | + | ATTGAATTCG.TTTTTTTTAA | novel | A/T | unknown | intron | NM_001040142 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_82_SD3_13 | chr2 | 165951454 | + | ATTGAATTCG.TTTTTTTTAA | novel | A/T | unknown | intron | NM_021007 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_82_SD3_13 | chr2 | 165951454 | + | ATTGAATTCG.TTTTTTTTAA | novel | A/T | unknown | intron | NM_001040143 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30453_254_SD3_13 | chr2 | 165953476 | + | GAATCCTACG.CTGATCAAAG | rs2060198 | T/A | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001040142 | SCN2A2 | Arg | Arg | 1638 | CGT | 3 | N/A |
| EP_30453_254_SD3_13 | chr2 | 165953476 | + | GAATCCTACG.CTGATCAAAG | rs2060198 | T/A | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_021007 | SCN2A2 | Arg | Arg | 1638 | CGT | 3 | N/A |
| EP_30453_254_SD3_13 | chr2 | 165953476 | + | GAATCCTACG.CTGATCAAAG | rs2060198 | T/A | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001040143 | SCN2A2 | Arg | Arg | 1638 | CGT | 3 | N/A |
| EP_30454_289_SD3_13 | chr2 | 165953888 | + | CGCGGTCATC.TGGAGAACTT | novel | C/T | unknown | coding_synon | NM_001040142 | SCN2A2 | Leu | Leu | 1776 | CTG | 1 | N/A |
| EP_30454_289_SD3_13 | chr2 | 165953888 | + | CGCGGTCATC.TGGAGAACTT | novel | C/T | unknown | coding_synon | NM_021007 | SCN2A2 | Leu | Leu | 1776 | CTG | 1 | N/A |
| EP_30454_289_SD3_13 | chr2 | 165953888 | + | CGCGGTCATC.TGGAGAACTT | novel | C/T | unknown | coding_synon | NM_001040143 | SCN2A2 | Leu | Leu | 1776 | CTG | 1 | N/A |
| EP_30455_126_SD3_13 | chr4 | 114190397 | + | CAGTAGTCAG.GGAGAAAAAG | novel | A/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Arg | Trp | 22 | AGG | 1 | N/A |
| EP_30455_126_SD3_13 | chr4 | 114190397 | + | CAGTAGTCAG.GGAGAAAAAG | novel | A/T | unknown | coding_nonsynon | NM_020977 | ANK2 | Arg | Trp | 22 | AGG | 1 | N/A |
| EP_30457_74_SD3_13 | chr4 | 114336984 | + | ATGGACTCAA.GCTCTCCATC | novel | C/T | unknown | coding_synon | NM_001148 | ANK2 | Asn | Asn | 66 | AAC | 3 | N/A |
| EP_30457_74_SD3_13 | chr4 | 114336984 | + | ATGGACTCAA.GCTCTCCATC | novel | C/T | unknown | coding_synon | NM_020977 | ANK2 | Asn | Asn | 66 | AAC | 3 | N/A |
| EP_30458_256_SD3_13 | chr4 | 114339733 | + | TTCAGATTTT.CCTGATGTAC | novel | C/T | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30458_256_SD3_13 | chr4 | 114339733 | + | TTCAGATTTT.CCTGATGTAC | novel | C/T | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30458_356_SD3_13 | chr4 | 114339833 | + | TGCTTTGTTA.TTATTTTAGC | novel | T/C | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30458_356_SD3_13 | chr4 | 114339833 | + | TGCTTTGTTA.TTATTTTAGC | novel | T/C | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30461_170_SD3_13 | chr4 | 114378299 | + | GAATAAATGC.CACTAATTCA | novel | T/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30461_170_SD3_13 | chr4 | 114378299 | + | GAATAAATGC.CACTAATTCA | novel | T/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30463_195_SD3_13 | chr4 | 114382848 | + | TTTCTACCAT.ATTATTTCTT | rs362504 | T/G | by-cluster_by-frequency | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30463_195_SD3_13 | chr4 | 114382848 | + | TTTCTACCAT.ATTATTTCTT | rs362504 | T/G | by-cluster_by-frequency | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30464_126_SD3_13 | chr4 | 114390412 | + | AGTGGGCATG.CCAAGTGGTG | novel | A/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Asp | Val | 312 | GAC | 2 | N/A |
| EP_30464_126_SD3_13 | chr4 | 114390412 | + | AGTGGGCATG.CCAAGTGGTG | novel | A/T | unknown | coding_nonsynon | NM_020977 | ANK2 | Asp | Val | 312 | GAC | 2 | N/A |
| EP_30464_239_SD3_13 | chr4 | 114390525 | + | TTGATGTATT.TCTCTATTCT | rs3025734 | A/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30464_239_SD3_13 | chr4 | 114390525 | + | TTGATGTATT.TCTCTATTCT | rs3025734 | A/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30464_317_SD3_13 | chr4 | 114390603 | + | GAATAGGAAT.TGTATCAAAC | rs362495 | A/G | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30464_317_SD3_13 | chr4 | 114390603 | + | GAATAGGAAT.TGTATCAAAC | rs362495 | A/G | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30466_121_SD3_13 | chr4 | 114398711 | + | AAGTCATGGA.CTGCTGGTGA | rs34145832 | A/G | unknown | coding_synon | NM_001148 | ANK2 | Glu | Glu | 415 | GAA | 3 | N/A |
| EP_30466_121_SD3_13 | chr4 | 114398711 | + | AAGTCATGGA.CTGCTGGTGA | rs34145832 | A/G | unknown | coding_synon | NM_020977 | ANK2 | Glu | Glu | 415 | GAA | 3 | N/A |
| EP_30466_198_SD3_13 | chr4 | 114398788 | + | CAAAGCATTC.TTCTCTTACT | novel | C/T | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30466_198_SD3_13 | chr4 | 114398788 | + | CAAAGCATTC.TTCTCTTACT | novel | C/T | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30468_123_SD3_13 | chr4 | 114405454 | + | CTTTACCATC.AGAGCGGTGG | rs29413 | C/T | by-submitter | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30468_123_SD3_13 | chr4 | 114405454 | + | CTTTACCATC.AGAGCGGTGG | rs29413 | C/T | by-submitter | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30468_220_SD3_13 | chr4 | 114405551 | + | CAGGTGGAAG.GGTCCGATGC | novel | T/C | unknown | coding_nonsynon | NM_001148 | ANK2 | Val | Ala | 479 | GTG | 2 | N/A |
| EP_30468_220_SD3_13 | chr4 | 114405551 | + | CAGGTGGAAG.GGTCCGATGC | novel | T/C | unknown | coding_nonsynon | NM_020977 | ANK2 | Val | Ala | 479 | GTG | 2 | N/A |
| EP_30468_266_SD3_13 | chr4 | 114405597 | + | ATGCCAGAGC.AGGGTAGGTA | novel | C/T | unknown | coding_synon | NM_001148 | ANK2 | Ala | Ala | 494 | GCC | 3 | N/A |
| EP_30468_266_SD3_13 | chr4 | 114405597 | + | ATGCCAGAGC.AGGGTAGGTA | novel | C/T | unknown | coding_synon | NM_020977 | ANK2 | Ala | Ala | 494 | GCC | 3 | N/A |
| EP_30473_233_SD3_13 | chr4 | 114428326 | + | AAATCACTCT.AGTATTGTGA | novel | C/T | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30473_233_SD3_13 | chr4 | 114428326 | + | AAATCACTCT.AGTATTGTGA | novel | C/T | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30474_178_SD3_13 | chr4 | 114429100 | + | AGGTAAAGTA.TTGTGGTCAT | novel | C/T | unknown | splice_region | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30474_178_SD3_13 | chr4 | 114429100 | + | AGGTAAAGTA.TTGTGGTCAT | novel | C/T | unknown | splice_region | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30475_104_SD3_13 | chr4 | 114433000 | + | GTGCTGGGCC.GCCACCACTG | novel | C/T | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30475_104_SD3_13 | chr4 | 114433000 | + | GTGCTGGGCC.GCCACCACTG | novel | C/T | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30475_114_SD3_13 | chr4 | 114433010 | + | CGCCACCACT.TCCTCCACAG | novel | A/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30475_114_SD3_13 | chr4 | 114433010 | + | CGCCACCACT.TCCTCCACAG | novel | A/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30475_184_SD3_13 | chr4 | 114433080 | + | TCATCAACGT.CTGCTCCAGC | rs29341 | C/T | by-submitter | coding_synon | NM_001148 | ANK2 | Val | Val | 779 | GTC | 3 | N/A |
| EP_30475_184_SD3_13 | chr4 | 114433080 | + | TCATCAACGT.CTGCTCCAGC | rs29341 | C/T | by-submitter | coding_synon | NM_020977 | ANK2 | Val | Val | 779 | GTC | 3 | N/A |
| EP_30475_258_SD3_13 | chr4 | 114433154 | + | ACCACGCTTT.TTCTTTTTCC | novel | C/T | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30475_258_SD3_13 | chr4 | 114433154 | + | ACCACGCTTT.TTCTTTTTCC | novel | C/T | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30476_231_SD3_13 | chr4 | 114434213 | + | ATGTACAGTA.TTTTTCACTC | novel | C/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30476_231_SD3_13 | chr4 | 114434213 | + | ATGTACAGTA.TTTTTCACTC | novel | C/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30476_55_SD3_13 | chr4 | 114434037 | + | CTTTCACTCT.TCTTCAGAAT | novel | C/T | unknown | splice_region | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30476_55_SD3_13 | chr4 | 114434037 | + | CTTTCACTCT.TCTTCAGAAT | novel | C/T | unknown | splice_region | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30477_146_SD3_13 | chr4 | 114443441 | + | TTCTGATGAA.AGGGTAAGAC | novel | T/G | unknown | coding_nonsynon | NM_001148 | ANK2 | Glu | STP | 849 | GAG | 1 | N/A |
| EP_30477_146_SD3_13 | chr4 | 114443441 | + | TTCTGATGAA.AGGGTAAGAC | novel | T/G | unknown | coding_nonsynon | NM_020977 | ANK2 | Glu | STP | 849 | GAG | 1 | N/A |
| EP_30479_96_SD3_13 | chr4 | 114458345 | + | GGTCTCACAC.CTGAGCCATG | novel | T/A | unknown | coding_synon | NM_001148 | ANK2 | Thr | Thr | 909 | ACT | 3 | N/A |
| EP_30479_96_SD3_13 | chr4 | 114458345 | + | GGTCTCACAC.CTGAGCCATG | novel | T/A | unknown | coding_synon | NM_020977 | ANK2 | Thr | Thr | 909 | ACT | 3 | N/A |
| EP_30484_264_SD3_13 | chr4 | 114476650 | + | AGCGGATCCG.GTAGGCCTGC | rs3736575 | C/T | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001148 | ANK2 | Arg | Arg | 1193 | CGC | 3 | N/A |
| EP_30484_264_SD3_13 | chr4 | 114476650 | + | AGCGGATCCG.GTAGGCCTGC | rs3736575 | C/T | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_020977 | ANK2 | Arg | Arg | 1193 | CGC | 3 | N/A |
| EP_30486_195_SD3_13 | chr4 | 114479937 | + | GGTATCGTTA.ATAGCACAGA | novel | T/C | unknown | splice_region | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30486_195_SD3_13 | chr4 | 114479937 | + | GGTATCGTTA.ATAGCACAGA | novel | T/C | unknown | splice_region | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30486_199_SD3_13 | chr4 | 114479941 | + | TCGTTATATA.CACAGAAAAG | rs2272231 | G/T | by-cluster_by-frequency | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30486_199_SD3_13 | chr4 | 114479941 | + | TCGTTATATA.CACAGAAAAG | rs2272231 | G/T | by-cluster_by-frequency | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30487_384_SD3_13 | chr4 | 114482550 | + | TAATAATAAT.TATGCCATGT | novel | T/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30487_384_SD3_13 | chr4 | 114482550 | + | TAATAATAAT.TATGCCATGT | novel | T/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30487_472_SD3_13 | chr4 | 114482638 | + | AGACAAGTTC.CATTTTGGTC | novel | A/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30487_472_SD3_13 | chr4 | 114482638 | + | AGACAAGTTC.CATTTTGGTC | novel | A/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30489_140_SD3_13 | chr4 | 114486566 | + | CCAAAATCCA.GAGAGGCCTG | novel | C/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Thr | Met | 1437 | ACG | 2 | N/A |
| EP_30489_140_SD3_13 | chr4 | 114486566 | + | CCAAAATCCA.GAGAGGCCTG | novel | C/T | unknown | coding_nonsynon | NM_020977 | ANK2 | Thr | Met | 1437 | ACG | 2 | N/A |
| EP_30489_58_SD3_13 | chr4 | 114486484 | + | GGGTGAAGCA.GTATGTCTTT | novel | T/C | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30489_58_SD3_13 | chr4 | 114486484 | + | GGGTGAAGCA.GTATGTCTTT | novel | T/C | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30490_107_SD3_13 | chr4 | 114488873 | + | GCATCTTGGG.CGGAAAGGAA | novel | G/A | unknown | splice_region | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30490_107_SD3_13 | chr4 | 114488873 | + | GCATCTTGGG.CGGAAAGGAA | novel | G/A | unknown | splice_region | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30490_192_SD3_13 | chr4 | 114488958 | + | TGTCATTGCT.TAACCACTAA | rs2272234 | G/A | by-cluster_by-frequency | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30490_192_SD3_13 | chr4 | 114488958 | + | TGTCATTGCT.TAACCACTAA | rs2272234 | G/A | by-cluster_by-frequency | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30491_197_SD3_13 | chr4 | 114490967 | + | TTACATTTTT.TATTATCCTT | novel | A/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30491_197_SD3_13 | chr4 | 114490967 | + | TTACATTTTT.TATTATCCTT | novel | A/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30494_145_SD3_13 | chr4 | 114494692 | + | CAGGGTCTCC.TCCCCTAAAA | rs33966911 | C/T | by-frequency | coding_synon | NM_001148 | ANK2 | Pro | Pro | 1823 | CCC | 3 | N/A |
| EP_30494_145_SD3_13 | chr4 | 114494692 | + | CAGGGTCTCC.TCCCCTAAAA | rs33966911 | C/T | by-frequency | intron | NM_020977 | ANK2 | Pro | Pro | 1823 | CCC | 3 | N/A |
| EP_30494_185_SD3_13 | chr4 | 114494732 | + | TTCCTCTTCC.CAAAAACTGA | novel | G/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Ala | Thr | 1837 | GCA | 1 | N/A |
| EP_30494_185_SD3_13 | chr4 | 114494732 | + | TTCCTCTTCC.CAAAAACTGA | novel | G/A | unknown | intron | NM_020977 | ANK2 | Ala | Thr | 1837 | GCA | 1 | N/A |
| EP_30495_360_SD3_13 | chr4 | 114495391 | + | GCCAGAGACT.CCGGTAACGG | rs3796928 | C/G | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001148 | ANK2 | Leu | Leu | 2056 | CTC | 3 | N/A |
| EP_30495_360_SD3_13 | chr4 | 114495391 | + | GCCAGAGACT.CCGGTAACGG | rs3796928 | C/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_020977 | ANK2 | Leu | Leu | 2056 | CTC | 3 | N/A |
| EP_30495_398_SD3_13 | chr4 | 114495429 | + | AGAGGAGTTC.TGTTTCCTCC | novel | G/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Arg | His | 2069 | CGT | 2 | N/A |
| EP_30495_398_SD3_13 | chr4 | 114495429 | + | AGAGGAGTTC.TGTTTCCTCC | novel | G/A | unknown | intron | NM_020977 | ANK2 | Arg | His | 2069 | CGT | 2 | N/A |
| EP_30496_344_SD3_13 | chr4 | 114495857 | + | GGGGGTAGCC.GCTCTCCGTG | novel | A/G | unknown | coding_nonsynon | NM_001148 | ANK2 | Gly | Ser | 2212 | GGC | 1 | N/A |
| EP_30496_344_SD3_13 | chr4 | 114495857 | + | GGGGGTAGCC.GCTCTCCGTG | novel | A/G | unknown | intron | NM_020977 | ANK2 | Gly | Ser | 2212 | GGC | 1 | N/A |
| EP_30496_436_SD3_13 | chr4 | 114495949 | + | CCCCTGAGAC.AGCCCAGAAA | novel | G/A | unknown | coding_synon | NM_001148 | ANK2 | Thr | Thr | 2242 | ACG | 3 | N/A |
| EP_30496_436_SD3_13 | chr4 | 114495949 | + | CCCCTGAGAC.AGCCCAGAAA | novel | G/A | unknown | intron | NM_020977 | ANK2 | Thr | Thr | 2242 | ACG | 3 | N/A |
| EP_30497_235_SD3_13 | chr4 | 114496230 | + | GTAGCATTAG.TAAAGAGACA | novel | C/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Ala | Val | 2336 | GCT | 2 | N/A |
| EP_30497_235_SD3_13 | chr4 | 114496230 | + | GTAGCATTAG.TAAAGAGACA | novel | C/T | unknown | intron | NM_020977 | ANK2 | Ala | Val | 2336 | GCT | 2 | N/A |
| EP_30497_253_SD3_13 | chr4 | 114496248 | + | ACACCTACAG.ACTGACTGAG | novel | G/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Gly | Val | 2342 | GGA | 2 | N/A |
| EP_30497_253_SD3_13 | chr4 | 114496248 | + | ACACCTACAG.ACTGACTGAG | novel | G/T | unknown | intron | NM_020977 | ANK2 | Gly | Val | 2342 | GGA | 2 | N/A |
| EP_30497_287_SD3_13 | chr4 | 114496282 | + | ATGAAGGTCA.CGTACCTTTG | novel | G/A | unknown | coding_synon | NM_001148 | ANK2 | Gln | Gln | 2353 | CAA | 3 | N/A |
| EP_30497_287_SD3_13 | chr4 | 114496282 | + | ATGAAGGTCA.CGTACCTTTG | novel | G/A | unknown | intron | NM_020977 | ANK2 | Gln | Gln | 2353 | CAA | 3 | N/A |
| EP_30497_334_SD3_13 | chr4 | 114496329 | + | GATAGTGAGG.TCAAGAATCC | rs28377576 | T/C | by-frequency | coding_nonsynon | NM_001148 | ANK2 | Val | Ala | 2369 | GTT | 2 | N/A |
| EP_30497_334_SD3_13 | chr4 | 114496329 | + | GATAGTGAGG.TCAAGAATCC | rs28377576 | T/C | by-frequency | intron | NM_020977 | ANK2 | Val | Ala | 2369 | GTT | 2 | N/A |
| EP_30497_338_SD3_13 | chr4 | 114496333 | + | GTGAGGTTCA.GAATCCACAG | rs3733615 | A/G | by-cluster_by-frequency | coding_synon | NM_001148 | ANK2 | Gln | Gln | 2370 | CAA | 3 | N/A |
| EP_30497_338_SD3_13 | chr4 | 114496333 | + | GTGAGGTTCA.GAATCCACAG | rs3733615 | A/G | by-cluster_by-frequency | intron | NM_020977 | ANK2 | Gln | Gln | 2370 | CAA | 3 | N/A |
| EP_30497_360_SD3_13 | chr4 | 114496355 | + | CACCTCAGAC.AGACAAAGGC | novel | G/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Glu | Lys | 2378 | GAG | 1 | N/A |
| EP_30497_360_SD3_13 | chr4 | 114496355 | + | CACCTCAGAC.AGACAAAGGC | novel | G/A | unknown | intron | NM_020977 | ANK2 | Glu | Lys | 2378 | GAG | 1 | N/A |
| EP_30497_485_SD3_13 | chr4 | 114496480 | + | GAGATAGCGA.GTCCTCAGCG | novel | C/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Glu | Asp | 2419 | GAA | 3 | N/A |
| EP_30497_485_SD3_13 | chr4 | 114496480 | + | GAGATAGCGA.GTCCTCAGCG | novel | C/A | unknown | intron | NM_020977 | ANK2 | Glu | Asp | 2419 | GAA | 3 | N/A |
| EP_30497_495_SD3_13 | chr4 | 114496490 | + | AGTCCTCAGC.CTGTGGCTGA | rs3733616 | G/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Ala | Thr | 2423 | GCT | 1 | N/A |
| EP_30497_495_SD3_13 | chr4 | 114496490 | + | AGTCCTCAGC.CTGTGGCTGA | rs3733616 | G/A | unknown | intron | NM_020977 | ANK2 | Ala | Thr | 2423 | GCT | 1 | N/A |
| EP_30497_542_SD3_13 | chr4 | 114496537 | + | ACTCTCTGGA.GCCAGCCCTG | novel | A/G | unknown | coding_synon | NM_001148 | ANK2 | Glu | Glu | 2438 | GAA | 3 | N/A |
| EP_30497_542_SD3_13 | chr4 | 114496537 | + | ACTCTCTGGA.GCCAGCCCTG | novel | A/G | unknown | intron | NM_020977 | ANK2 | Glu | Glu | 2438 | GAA | 3 | N/A |
| EP_30499_166_SD3_13 | chr4 | 114497125 | + | CAGTAGATGT.GATGAACCAA | novel | A/G | unknown | coding_synon | NM_001148 | ANK2 | Val | Val | 2634 | GTG | 3 | N/A |
| EP_30499_166_SD3_13 | chr4 | 114497125 | + | CAGTAGATGT.GATGAACCAA | novel | A/G | unknown | intron | NM_020977 | ANK2 | Val | Val | 2634 | GTG | 3 | N/A |
| EP_30499_374_SD3_13 | chr4 | 114497333 | + | CTCCAATTCC.GTCCAGAAGA | novel | A/G | unknown | coding_nonsynon | NM_001148 | ANK2 | Ser | Gly | 2704 | AGT | 1 | N/A |
| EP_30499_374_SD3_13 | chr4 | 114497333 | + | CTCCAATTCC.GTCCAGAAGA | novel | A/G | unknown | intron | NM_020977 | ANK2 | Ser | Gly | 2704 | AGT | 1 | N/A |
| EP_30499_458_SD3_13 | chr4 | 114497417 | + | AGAGCCAGGC.AATCAGAAGA | novel | A/C | unknown | coding_nonsynon | NM_001148 | ANK2 | Lys | Gln | 2732 | AAA | 1 | N/A |
| EP_30499_458_SD3_13 | chr4 | 114497417 | + | AGAGCCAGGC.AATCAGAAGA | novel | A/C | unknown | intron | NM_020977 | ANK2 | Lys | Gln | 2732 | AAA | 1 | N/A |
| EP_30500_168_SD3_13 | chr4 | 114497577 | + | CCTAGCAGCT.AGCTGCTCCT | novel | C/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Ser | Leu | 2785 | TCA | 2 | N/A |
| EP_30500_168_SD3_13 | chr4 | 114497577 | + | CCTAGCAGCT.AGCTGCTCCT | novel | C/T | unknown | intron | NM_020977 | ANK2 | Ser | Leu | 2785 | TCA | 2 | N/A |
| EP_30500_317_SD3_13 | chr4 | 114497726 | + | AGCAGAATCT.CACAAGCAGA | rs3733617 | C/T | by-cluster_by-frequency | coding_nonsynon | NM_001148 | ANK2 | Pro | Ser | 2835 | CCA | 1 | N/A |
| EP_30500_317_SD3_13 | chr4 | 114497726 | + | AGCAGAATCT.CACAAGCAGA | rs3733617 | C/T | by-cluster_by-frequency | intron | NM_020977 | ANK2 | Pro | Ser | 2835 | CCA | 1 | N/A |
| EP_30501_391_SD3_13 | chr4 | 114498284 | + | TACTATGTCC.CTACAACAAC | novel | G/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Ala | Thr | 3021 | GCT | 1 | N/A |
| EP_30501_391_SD3_13 | chr4 | 114498284 | + | TACTATGTCC.CTACAACAAC | novel | G/A | unknown | intron | NM_020977 | ANK2 | Ala | Thr | 3021 | GCT | 1 | N/A |
| EP_30502_428_SD3_13 | chr4 | 114498821 | + | GGATGCTCAA.TTAACTCCCA | novel | C/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Leu | Phe | 3200 | CTT | 1 | N/A |
| EP_30502_428_SD3_13 | chr4 | 114498821 | + | GGATGCTCAA.TTAACTCCCA | novel | C/T | unknown | intron | NM_020977 | ANK2 | Leu | Phe | 3200 | CTT | 1 | N/A |
| EP_30502_444_SD3_13 | chr4 | 114498837 | + | TCCCAAATGG.GATTTCAGCC | novel | C/G | unknown | coding_nonsynon | NM_001148 | ANK2 | Gly | Ala | 3205 | GGG | 2 | N/A |
| EP_30502_444_SD3_13 | chr4 | 114498837 | + | TCCCAAATGG.GATTTCAGCC | novel | C/G | unknown | intron | NM_020977 | ANK2 | Gly | Ala | 3205 | GGG | 2 | N/A |
| EP_30502_478_SD3_13 | chr4 | 114498871 | + | CTACAAAAGA.GCTGTTAGTG | rs10013743 | A/G | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001148 | ANK2 | Glu | Glu | 3216 | GAA | 3 | N/A |
| EP_30502_478_SD3_13 | chr4 | 114498871 | + | CTACAAAAGA.GCTGTTAGTG | rs10013743 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_020977 | ANK2 | Glu | Glu | 3216 | GAA | 3 | N/A |
| EP_30503_196_SD3_13 | chr4 | 114499077 | + | AAATCAGTAA.CGAGATTCCT | novel | T/C | unknown | coding_nonsynon | NM_001148 | ANK2 | Ile | Thr | 3285 | ATC | 2 | N/A |
| EP_30503_196_SD3_13 | chr4 | 114499077 | + | AAATCAGTAA.CGAGATTCCT | novel | T/C | unknown | intron | NM_020977 | ANK2 | Ile | Thr | 3285 | ATC | 2 | N/A |
| EP_30503_242_SD3_13 | chr4 | 114499123 | + | TTACTGAAAG.AAATCCAAAA | rs34270799 | C/A | by-frequency | coding_nonsynon | NM_001148 | ANK2 | Ser | Arg | 3300 | AGC | 3 | N/A |
| EP_30503_242_SD3_13 | chr4 | 114499123 | + | TTACTGAAAG.AAATCCAAAA | rs34270799 | C/A | by-frequency | intron | NM_020977 | ANK2 | Ser | Arg | 3300 | AGC | 3 | N/A |
| EP_30503_374_SD3_13 | chr4 | 114499255 | + | AAGCAAAACC.AAGTCCAAAC | novel | A/G | unknown | coding_synon | NM_001148 | ANK2 | Pro | Pro | 3344 | CCA | 3 | N/A |
| EP_30503_374_SD3_13 | chr4 | 114499255 | + | AAGCAAAACC.AAGTCCAAAC | novel | A/G | unknown | intron | NM_020977 | ANK2 | Pro | Pro | 3344 | CCA | 3 | N/A |
| EP_30504_119_SD3_13 | chr4 | 114499486 | + | GAGAGAGGGC.GAGGAACTTG | novel | C/T | unknown | coding_synon | NM_001148 | ANK2 | Ala | Ala | 3421 | GCC | 3 | N/A |
| EP_30504_119_SD3_13 | chr4 | 114499486 | + | GAGAGAGGGC.GAGGAACTTG | novel | C/T | unknown | intron | NM_020977 | ANK2 | Ala | Ala | 3421 | GCC | 3 | N/A |
| EP_30504_227_SD3_13 | chr4 | 114499594 | + | GGGGGGGCAC.AGCCCCACAA | novel | G/A | unknown | coding_synon | NM_001148 | ANK2 | Thr | Thr | 3457 | ACG | 3 | N/A |
| EP_30504_227_SD3_13 | chr4 | 114499594 | + | GGGGGGGCAC.AGCCCCACAA | novel | G/A | unknown | intron | NM_020977 | ANK2 | Thr | Thr | 3457 | ACG | 3 | N/A |
| EP_30504_251_SD3_13 | chr4 | 114499618 | + | AAAGTAAGGA.CATTTCTTTG | novel | G/A | unknown | coding_synon | NM_001148 | ANK2 | Glu | Glu | 3465 | GAG | 3 | N/A |
| EP_30504_251_SD3_13 | chr4 | 114499618 | + | AAAGTAAGGA.CATTTCTTTG | novel | G/A | unknown | intron | NM_020977 | ANK2 | Glu | Glu | 3465 | GAG | 3 | N/A |
| EP_30506_322_SD3_13 | chr4 | 114504094 | + | GAACTATATG.ATATTGGGCT | rs35728190 | C/T | by-frequency | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30506_322_SD3_13 | chr4 | 114504094 | + | GAACTATATG.ATATTGGGCT | rs35728190 | C/T | by-frequency | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30508_105_SD3_13 | chr4 | 114508153 | + | CTAAATACTT.AATCATTCTG | novel | A/C | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30508_105_SD3_13 | chr4 | 114508153 | + | CTAAATACTT.AATCATTCTG | novel | A/C | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30508_308_SD3_13 | chr4 | 114508356 | + | AGCAACAGCA.TCTTTCCCCA | rs35530544 | C/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Leu | Ile | 3740 | CTC | 1 | N/A |
| EP_30508_308_SD3_13 | chr4 | 114508356 | + | AGCAACAGCA.TCTTTCCCCA | rs35530544 | C/A | unknown | coding_nonsynon | NM_020977 | ANK2 | Leu | Ile | 1655 | CTC | 1 | N/A |
| EP_30508_321_SD3_13 | chr4 | 114508369 | + | TTTCCCCAAA.TCACAAGGAG | novel | C/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Thr | Asn | 3744 | ACT | 2 | N/A |
| EP_30508_321_SD3_13 | chr4 | 114508369 | + | TTTCCCCAAA.TCACAAGGAG | novel | C/A | unknown | coding_nonsynon | NM_020977 | ANK2 | Thr | Asn | 1659 | ACT | 2 | N/A |
| EP_30508_38_SD3_13 | chr4 | 114508086 | + | TCTTATTTTT.TTATCCTCTT | novel | T/C | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30508_38_SD3_13 | chr4 | 114508086 | + | TCTTATTTTT.TTATCCTCTT | novel | T/C | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30510_117_SD3_13 | chr4 | 114513749 | + | AGAATACATT.ATGAGCATGG | novel | G/C | unknown | coding_nonsynon | NM_001148 | ANK2 | Asp | His | 3889 | GAT | 1 | N/A |
| EP_30510_117_SD3_13 | chr4 | 114513749 | + | AGAATACATT.ATGAGCATGG | novel | G/C | unknown | coding_nonsynon | NM_020977 | ANK2 | Asp | His | 1804 | GAT | 1 | N/A |
| EP_30510_125_SD3_13 | chr4 | 114513757 | + | TTGATGAGCA.GGACACACCG | rs2293324 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | coding_synon | NM_001148 | ANK2 | His | His | 3891 | CAT | 3 | N/A |
| EP_30510_125_SD3_13 | chr4 | 114513757 | + | TTGATGAGCA.GGACACACCG | rs2293324 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | coding_synon | NM_020977 | ANK2 | His | His | 1806 | CAT | 3 | N/A |
| EP_30511_150_SD3_13 | chr4 | 114513911 | + | AATCATTAGG.GGTATGTATC | novel | C/T | unknown | coding_nonsynon | NM_001148 | ANK2 | Arg | Trp | 3906 | CGG | 1 | N/A |
| EP_30511_150_SD3_13 | chr4 | 114513911 | + | AATCATTAGG.GGTATGTATC | novel | C/T | unknown | coding_nonsynon | NM_020977 | ANK2 | Arg | Trp | 1821 | CGG | 1 | N/A |
| EP_30511_224_SD3_13 | chr4 | 114513985 | + | CTGTCAACAT.GAGGAAGGGG | novel | C/T | unknown | coding_synon | NM_001148 | ANK2 | Ile | Ile | 3930 | ATC | 3 | N/A |
| EP_30511_224_SD3_13 | chr4 | 114513985 | + | CTGTCAACAT.GAGGAAGGGG | novel | C/T | unknown | coding_synon | NM_020977 | ANK2 | Ile | Ile | 1845 | ATC | 3 | N/A |
| EP_30511_225_SD3_13 | chr4 | 114513986 | + | TGTCAACATC.AGGAAGGGGA | novel | G/A | unknown | coding_nonsynon | NM_001148 | ANK2 | Glu | Lys | 3931 | GAG | 1 | N/A |
| EP_30511_225_SD3_13 | chr4 | 114513986 | + | TGTCAACATC.AGGAAGGGGA | novel | G/A | unknown | coding_nonsynon | NM_020977 | ANK2 | Glu | Lys | 1846 | GAG | 1 | N/A |
| EP_30513_141_SD3_13 | chr4 | 114522155 | + | AGGATGTACC.GAAGCACTAG | novel | A/C | unknown | 3' UTR | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30513_141_SD3_13 | chr4 | 114522155 | + | AGGATGTACC.GAAGCACTAG | novel | A/C | unknown | 3' UTR | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30513_69_SD3_13 | chr4 | 114522083 | + | GTAAAGCCAT.ACACAGAAGA | rs35446871 | C/T | unknown | 3' UTR | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30513_69_SD3_13 | chr4 | 114522083 | + | GTAAAGCCAT.ACACAGAAGA | rs35446871 | C/T | unknown | 3' UTR | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30514_131_SD3_13 | chr4 | 114522470 | + | TATCCAATAC.TTGTTGTGTC | novel | T/C | unknown | 3' UTR | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30514_131_SD3_13 | chr4 | 114522470 | + | TATCCAATAC.TTGTTGTGTC | novel | T/C | unknown | 3' UTR | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30515_197_SD3_13 | chr4 | 114490967 | + | TTACATTTTT.TATTATCCTT | novel | A/G | unknown | intron | NM_001148 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30515_197_SD3_13 | chr4 | 114490967 | + | TTACATTTTT.TATTATCCTT | novel | A/G | unknown | intron | NM_020977 | ANK2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_108_SD3_13 | chr1 | 55237250 | + | CCGTTGAAGC.AGCCGCCTCC | novel | G/A | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_137_SD3_13 | chr1 | 55237279 | + | TGAACTGGTG.GCCCAGGGAC | novel | G/C | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_150_SD3_13 | chr1 | 55237292 | + | CCAGGGACTG.AGCGGGATTG | novel | G/C | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_189_SD3_13 | chr1 | 55237331 | + | CTTGAAGCCT.GAGTTGCAGC | rs2500340 | C/T | by-cluster_by-frequency_by-submitter_by-2hit-2allele | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_236_SD3_13 | chr1 | 55237378 | + | AAGCCTGTCT.GGTGTTTAGG | rs2500341 | G/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_260_SD3_13 | chr1 | 55237402 | + | AACTACAGCC.CCCCCTCTCC | novel | A/C | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_281_SD3_13 | chr1 | 55237423 | + | CGGGGGTGTG.AGGCCAGGGA | novel | C/T | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_45_SD3_13 | chr1 | 55237187 | + | CCAGGCCAGC.GGGCCCAGAG | novel | C/T | unknown | promoter | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30516_65_SD3_13 | chr1 | 55237207 | + | GGGAAGGTGA.AGGGCAAGGA | rs12069526 | G/A | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30517_125_SD3_13 | chr1 | 55237510 | + | TGCTGGCCCT.GGTACGTTCC | novel | T/C | unknown | coding_synon | NM_057176 | BSND | Leu | Leu | 21 | CTC | 3 | N/A |
| EP_30517_189_SD3_13 | chr1 | 55237574 | + | CATGGGCAGC.TCATGGTGAT | rs34561376 | G/A | unknown | coding_nonsynon | NM_057176 | BSND | Val | Ile | 43 | GTC | 1 | N/A |
| EP_30517_250_SD3_13 | chr1 | 55237635 | + | GTAGGTGGTA.TGGGGCTGGG | novel | G/A | unknown | intron | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30517_254_SD3_13 | chr1 | 55237639 | + | GTGGTAGTGG.GCTGGGTGGG | novel | C/G | unknown | intron | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30517_262_SD3_13 | chr1 | 55237647 | + | GGGGCTGGGT.GGGCCAGGTC | novel | G/A | unknown | intron | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30517_38_SD3_13 | chr1 | 55237423 | + | CGGGGGTGTG.AGGCCAGGGA | novel | C/T | unknown | 5' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30518_179_SD3_13 | chr1 | 55243399 | + | GCCCTCTCGG.AGGGGAGGAG | novel | G/A | unknown | intron | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30518_74_SD3_13 | chr1 | 55243294 | + | TCACCTTCGT.CCTGCTGACT | novel | C/T | unknown | coding_synon | NM_057176 | BSND | Val | Val | 63 | GTC | 3 | N/A |
| EP_30519_249_SD3_13 | chr1 | 55245444 | + | GCCCTGGCGA.GTTCAGGCCT | novel | C/T | unknown | coding_synon | NM_057176 | BSND | Asp | Asp | 153 | GAC | 3 | N/A |
| EP_30520_111_SD3_13 | chr1 | 55246523 | + | CCTTCCAAGA.GACCTGGACA | novel | T/C | unknown | coding_synon | NM_057176 | BSND | Asp | Asp | 199 | GAT | 3 | N/A |
| EP_30520_407_SD3_13 | chr1 | 55246819 | + | CTGTACTATG.GCTGCCAGAT | novel | G/A | unknown | coding_nonsynon | NM_057176 | BSND | Gly | Glu | 298 | GGG | 2 | N/A |
| EP_30520_438_SD3_13 | chr1 | 55246850 | + | ACCTCCTCCC.GACAAGGAGC | rs33938617 | G/A | by-frequency | coding_synon | NM_057176 | BSND | Pro | Pro | 308 | CCG | 3 | N/A |
| EP_30520_501_SD3_13 | chr1 | 55246913 | + | CGTAGCTTCT.GTCTGGAACT | rs6682884 | A/C | by-cluster_by-frequency_by-2hit-2allele | 3' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30521_168_SD3_13 | chr1 | 55246983 | + | AAATGGGATG.TATGGAGGTT | novel | G/A | unknown | 3' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30521_249_SD3_13 | chr1 | 55247064 | + | TTAGTGGACT.TTGTTTTTCC | rs4339899 | C/G | by-cluster_by-frequency_by-2hit-2allele | promoter | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30521_35_SD3_13 | chr1 | 55246850 | + | ACCTCCTCCC.GACAAGGAGC | rs33938617 | G/A | by-frequency | coding_synon | NM_057176 | BSND | Pro | Pro | 308 | CCG | 3 | N/A |
| EP_30521_98_SD3_13 | chr1 | 55246913 | + | CGTAGCTTCT.GTCTGGAACT | rs6682884 | A/C | by-cluster_by-frequency_by-2hit-2allele | 3' UTR | NM_057176 | BSND | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30524_201_SD3_13 | chr19 | 13427051 | + | GTCTTCTCCT.GGCTTTAGCA | novel | T/C | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30524_201_SD3_13 | chr19 | 13427051 | + | GTCTTCTCCT.GGCTTTAGCA | novel | T/C | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30524_204_SD3_13 | chr19 | 13427054 | + | TTCTCCTTGG.TTTAGCAGGA | novel | C/T | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30524_204_SD3_13 | chr19 | 13427054 | + | TTCTCCTTGG.TTTAGCAGGA | novel | C/T | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30525_125_SD3_13 | chr19 | 13424752 | + | AAATCATTGC.CTTGGGTTTG | novel | C/T | unknown | coding_synon | NM_023035 | CACNA1A | Ala | Ala | 154 | GCC | 3 | N/A |
| EP_30525_125_SD3_13 | chr19 | 13424752 | + | AAATCATTGC.CTTGGGTTTG | novel | C/T | unknown | coding_synon | NM_000068 | CACNA1A | Ala | Ala | 154 | GCC | 3 | N/A |
| EP_30525_31_SD3_13 | chr19 | 13424658 | + | TGCCCAGCCC.AGACGCTGAC | novel | A/G | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30525_31_SD3_13 | chr19 | 13424658 | + | TGCCCAGCCC.AGACGCTGAC | novel | A/G | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30525_35_SD3_13 | chr19 | 13424662 | + | CAGCCCAAGA.GCTGACCTTG | novel | C/T | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30525_35_SD3_13 | chr19 | 13424662 | + | CAGCCCAAGA.GCTGACCTTG | novel | C/T | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30526_120_SD3_13 | chr19 | 13343559 | + | ACCTACGGAC.CTGAGGGCAG | novel | G/A | unknown | coding_nonsynon | NM_023035 | CACNA1A | Arg | Trp | 192 | CGG | 1 | N/A |
| EP_30526_120_SD3_13 | chr19 | 13343559 | + | ACCTACGGAC.CTGAGGGCAG | novel | G/A | unknown | coding_nonsynon | NM_000068 | CACNA1A | Arg | Trp | 192 | CGG | 1 | N/A |
| EP_30526_186_SD3_13 | chr19 | 13343625 | + | CGTGAGTTTC.GACCCTGACA | novel | C/T | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30526_186_SD3_13 | chr19 | 13343625 | + | CGTGAGTTTC.GACCCTGACA | novel | C/T | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30526_51_SD3_13 | chr19 | 13343490 | + | AACCCACCCT.TGTTCTCCAT | novel | C/G | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30526_51_SD3_13 | chr19 | 13343490 | + | AACCCACCCT.TGTTCTCCAT | novel | C/G | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30528_156_SD3_13 | chr19 | 13331503 | + | CCTACTGGGA.GGGCCCAACA | novel | A/G | unknown | coding_synon | NM_023035 | CACNA1A | Glu | Glu | 292 | GAA | 3 | N/A |
| EP_30528_156_SD3_13 | chr19 | 13331503 | + | CCTACTGGGA.GGGCCCAACA | novel | A/G | unknown | coding_synon | NM_000068 | CACNA1A | Glu | Glu | 292 | GAA | 3 | N/A |
| EP_30529_213_SD3_13 | chr19 | 13307764 | + | TCCTCTTTGC.AACTTCTTTC | novel | C/T | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30529_213_SD3_13 | chr19 | 13307764 | + | TCCTCTTTGC.AACTTCTTTC | novel | C/T | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30529_23_SD3_13 | chr19 | 13307574 | + | ATCTGAGTCC.AGTCAACTCT | novel | C/G | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30529_23_SD3_13 | chr19 | 13307574 | + | ATCTGAGTCC.AGTCAACTCT | novel | C/G | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30530_166_SD3_13 | chr19 | 13306295 | + | GGTACATGGA.TGGATCTCAA | novel | G/A | unknown | coding_synon | NM_023035 | CACNA1A | Glu | Glu | 394 | GAG | 3 | N/A |
| EP_30530_166_SD3_13 | chr19 | 13306295 | + | GGTACATGGA.TGGATCTCAA | novel | G/A | unknown | coding_synon | NM_000068 | CACNA1A | Glu | Glu | 394 | GAG | 3 | N/A |
| EP_30530_44_SD3_13 | chr19 | 13306173 | + | CAGCCATACT.TGGCTTTTCT | novel | C/G | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30530_44_SD3_13 | chr19 | 13306173 | + | CAGCCATACT.TGGCTTTTCT | novel | C/G | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30530_56_SD3_13 | chr19 | 13306185 | + | GGCTTTTCTA.GCTTCTCCAG | novel | T/C | unknown | splice_region | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30530_56_SD3_13 | chr19 | 13306185 | + | GGCTTTTCTA.GCTTCTCCAG | novel | T/C | unknown | splice_region | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30531_32_SD3_13 | chr19 | 13304652 | + | CTCCAAATGC.GGAGCTTAAC | novel | G/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30531_32_SD3_13 | chr19 | 13304652 | + | CTCCAAATGC.GGAGCTTAAC | novel | G/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30533_154_SD3_13 | chr19 | 13289017 | + | AGGAGGATGC.TTTCTACATC | novel | G/A | unknown | coding_nonsynon | NM_023035 | CACNA1A | Arg | His | 477 | CGT | 2 | N/A |
| EP_30533_154_SD3_13 | chr19 | 13289017 | + | AGGAGGATGC.TTTCTACATC | novel | G/A | unknown | coding_nonsynon | NM_000068 | CACNA1A | Arg | His | 477 | CGT | 2 | N/A |
| EP_30533_306_SD3_13 | chr19 | 13289169 | + | AGCCCCACCC.TGCCAACTCC | novel | T/C | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30533_306_SD3_13 | chr19 | 13289169 | + | AGCCCCACCC.TGCCAACTCC | novel | T/C | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30533_84_SD3_13 | chr19 | 13288947 | + | TTCTCCCTTC.CCCGAGCCAG | novel | A/G | unknown | coding_nonsynon | NM_023035 | CACNA1A | Ala | Thr | 454 | GCC | 1 | N/A |
| EP_30533_84_SD3_13 | chr19 | 13288947 | + | TTCTCCCTTC.CCCGAGCCAG | novel | A/G | unknown | coding_nonsynon | NM_000068 | CACNA1A | Ala | Thr | 454 | GCC | 1 | N/A |
| EP_30534_130_SD3_13 | chr19 | 13284550 | + | ACGGGCTTGG.ACGCGGCCTT | novel | G/A | unknown | coding_synon | NM_023035 | CACNA1A | Gly | Gly | 542 | GGG | 3 | N/A |
| EP_30534_130_SD3_13 | chr19 | 13284550 | + | ACGGGCTTGG.ACGCGGCCTT | novel | G/A | unknown | coding_synon | NM_000068 | CACNA1A | Gly | Gly | 542 | GGG | 3 | N/A |
| EP_30534_133_SD3_13 | chr19 | 13284553 | + | GGCTTGGGAC.CGGCCTTACT | novel | G/A | unknown | coding_synon | NM_023035 | CACNA1A | Met | Met | 534 | ATG | 2 | N/A |
| EP_30534_133_SD3_13 | chr19 | 13284553 | + | GGCTTGGGAC.CGGCCTTACT | novel | G/A | unknown | coding_synon | NM_000068 | CACNA1A | Met | Met | 534 | ATG | 2 | N/A |
| EP_30535_170_SD3_13 | chr19 | 13280323 | + | TTTTCAAAGT.ACAAAGTAAG | novel | C/G | unknown | coding_nonsynon | NM_023035 | CACNA1A | Phe | Ser | 564 | TTC | 2 | N/A |
| EP_30535_170_SD3_13 | chr19 | 13280323 | + | TTTTCAAAGT.ACAAAGTAAG | novel | C/G | unknown | coding_nonsynon | NM_000068 | CACNA1A | Phe | Ser | 564 | TTC | 2 | N/A |
| EP_30535_193_SD3_13 | chr19 | 13280346 | + | TTTGGGGTTC.TGGACATTTG | novel | C/A | unknown | splice_region | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30535_193_SD3_13 | chr19 | 13280346 | + | TTTGGGGTTC.TGGACATTTG | novel | C/A | unknown | splice_region | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30536_34_SD3_13 | chr19 | 13279905 | + | CTGCCTCCCC.GCCTGGCCTG | novel | C/T | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30536_34_SD3_13 | chr19 | 13279905 | + | CTGCCTCCCC.GCCTGGCCTG | novel | C/T | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30536_35_SD3_13 | chr19 | 13279906 | + | TGCCTCCCCC.CCTGGCCTGA | novel | G/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30536_35_SD3_13 | chr19 | 13279906 | + | TGCCTCCCCC.CCTGGCCTGA | novel | G/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30536_51_SD3_13 | chr19 | 13279922 | + | CCTGAGTCCT.GCCTGGCCTC | novel | C/T | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30536_51_SD3_13 | chr19 | 13279922 | + | CCTGAGTCCT.GCCTGGCCTC | novel | C/T | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30537_24_SD3_13 | chr19 | 13279557 | + | AGAGCACCCC.GGTGGGGCCA | novel | G/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30537_24_SD3_13 | chr19 | 13279557 | + | AGAGCACCCC.GGTGGGGCCA | novel | G/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30538_169_SD3_13 | chr19 | 13275687 | + | TTGTACTGAC.CTCTTTGGGA | novel | G/A | unknown | coding_synon | NM_023035 | CACNA1A | Gly | Gly | 667 | GGC | 3 | N/A |
| EP_30538_169_SD3_13 | chr19 | 13275687 | + | TTGTACTGAC.CTCTTTGGGA | novel | G/A | unknown | coding_synon | NM_000068 | CACNA1A | Gly | Gly | 667 | GGC | 3 | N/A |
| EP_30540_42_SD3_13 | chr19 | 13272343 | + | TTTGTGAACA.AGATTCCACG | novel | A/C | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30540_42_SD3_13 | chr19 | 13272343 | + | TTTGTGAACA.AGATTCCACG | novel | A/C | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30540_51_SD3_13 | chr19 | 13272352 | + | AAAGATTCCA.GTGCCTTTTA | novel | T/C | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30540_51_SD3_13 | chr19 | 13272352 | + | AAAGATTCCA.GTGCCTTTTA | novel | T/C | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30540_82_SD3_13 | chr19 | 13272383 | + | GAGGAAGAAG.AGCAGCGAAC | novel | A/C | unknown | coding_synon | NM_023035 | CACNA1A | Ala | Ala | 755 | GCC | 1 | N/A |
| EP_30540_82_SD3_13 | chr19 | 13272383 | + | GAGGAAGAAG.AGCAGCGAAC | novel | A/C | unknown | coding_synon | NM_000068 | CACNA1A | Ala | Ala | 755 | GCC | 1 | N/A |
| EP_30542_397_SD3_13 | chr19 | 13270686 | + | GGCGAGGGCG.GGGCGAGGGC | novel | A/T | unknown | coding_nonsynon | NM_023035 | CACNA1A | Glu | Lys | 922 | GAG | 1 | N/A |
| EP_30542_397_SD3_13 | chr19 | 13270686 | + | GGCGAGGGCG.GGGCGAGGGC | novel | A/T | unknown | coding_nonsynon | NM_000068 | CACNA1A | Glu | Lys | 922 | GAG | 1 | N/A |
| EP_30542_479_SD3_13 | chr19 | 13270768 | + | ACGCGCGGAG.GAGGACAAGG | novel | G/A | unknown | coding_synon | NM_023035 | CACNA1A | Arg | Arg | 894 | CGG | 3 | N/A |
| EP_30542_479_SD3_13 | chr19 | 13270768 | + | ACGCGCGGAG.GAGGACAAGG | novel | G/A | unknown | coding_synon | NM_000068 | CACNA1A | Arg | Arg | 894 | CGG | 3 | N/A |
| EP_30543_225_SD3_13 | chr19 | 13258475 | + | CCGCTCCCCA.GGCAGCCTTG | novel | T/C | unknown | coding_synon | NM_023035 | CACNA1A | His | His | 1083 | CAC | 3 | N/A |
| EP_30543_225_SD3_13 | chr19 | 13258475 | + | CCGCTCCCCA.GGCAGCCTTG | novel | T/C | unknown | coding_synon | NM_000068 | CACNA1A | His | His | 1083 | CAC | 3 | N/A |
| EP_30543_289_SD3_13 | chr19 | 13258539 | + | CACCGACCCC.GCCCCATGCT | novel | G/A | unknown | coding_nonsynon | NM_023035 | CACNA1A | Ala | Ser | 1112 | GCC | 1 | N/A |
| EP_30543_289_SD3_13 | chr19 | 13258539 | + | CACCGACCCC.GCCCCATGCT | novel | G/A | unknown | coding_nonsynon | NM_000068 | CACNA1A | Ala | Ser | 1112 | GCC | 1 | N/A |
| EP_30543_525_SD3_13 | chr19 | 13258775 | + | ACCACACCGT.GTACAAGGTG | novel | T/C | unknown | coding_synon | NM_023035 | CACNA1A | Asn | Asn | 1033 | AAC | 2 | N/A |
| EP_30543_525_SD3_13 | chr19 | 13258775 | + | ACCACACCGT.GTACAAGGTG | novel | T/C | unknown | coding_synon | NM_000068 | CACNA1A | Asn | Asn | 1033 | AAC | 2 | N/A |
| EP_30543_573_SD3_13 | chr19 | 13258823 | + | AGGGGACCTG.CGTCCCTGGA | novel | G/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30543_573_SD3_13 | chr19 | 13258823 | + | AGGGGACCTG.CGTCCCTGGA | novel | G/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30546_101_SD3_13 | chr19 | 13248921 | + | CAGGCGTCTT.ACCTTTGAGA | novel | T/C | unknown | coding_synon | NM_023035 | CACNA1A | Phe | Phe | 1288 | TTT | 3 | N/A |
| EP_30546_101_SD3_13 | chr19 | 13248921 | + | CAGGCGTCTT.ACCTTTGAGA | novel | T/C | unknown | coding_synon | NM_000068 | CACNA1A | Phe | Phe | 1288 | TTT | 3 | N/A |
| EP_30546_84_SD3_13 | chr19 | 13248904 | + | CTTTGACTAC.TTTTTACAGG | novel | G/C | unknown | coding_nonsynon | NM_023035 | CACNA1A | Phe | Leu | 1288 | TTT | 3 | N/A |
| EP_30546_84_SD3_13 | chr19 | 13248904 | + | CTTTGACTAC.TTTTTACAGG | novel | G/C | unknown | coding_nonsynon | NM_000068 | CACNA1A | Phe | Leu | 1288 | TTT | 3 | N/A |
| EP_30548_173_SD3_13 | chr19 | 13234658 | + | GTGAGATTGG.AGATGGTGGG | novel | G/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30548_173_SD3_13 | chr19 | 13234658 | + | GTGAGATTGG.AGATGGTGGG | novel | G/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30549_201_SD3_13 | chr19 | 13233398 | + | TGACGAGTCC.AAGAGTTTGA | novel | A/C | unknown | coding_nonsynon | NM_023035 | CACNA1A | Lys | Gln | 1411 | AAA | 1 | N/A |
| EP_30549_201_SD3_13 | chr19 | 13233398 | + | TGACGAGTCC.AAGAGTTTGA | novel | A/C | unknown | coding_nonsynon | NM_000068 | CACNA1A | Lys | Gln | 1411 | AAA | 1 | N/A |
| EP_30550_195_SD3_13 | chr19 | 13231510 | + | GAGAAGGCTG.CCACAGTAAG | novel | G/C | unknown | coding_nonsynon | NM_023035 | CACNA1A | Lys | Arg | 1420 | AAA | 2 | N/A |
| EP_30550_195_SD3_13 | chr19 | 13231510 | + | GAGAAGGCTG.CCACAGTAAG | novel | G/C | unknown | coding_nonsynon | NM_000068 | CACNA1A | Lys | Arg | 1420 | AAA | 2 | N/A |
| EP_30552_104_SD3_13 | chr19 | 13226950 | + | AGCCGCTGAC.CGACACATGC | novel | C/T | unknown | coding_synon | NM_023035 | CACNA1A | Met | Met | 1573 | ATG | 1 | N/A |
| EP_30552_104_SD3_13 | chr19 | 13226950 | + | AGCCGCTGAC.CGACACATGC | novel | C/T | unknown | coding_synon | NM_000068 | CACNA1A | Met | Met | 1573 | ATG | 1 | N/A |
| EP_30552_93_SD3_13 | chr19 | 13226939 | + | CATCAGCGCC.AGCCGCTGAC | novel | A/G | unknown | coding_synon | NM_023035 | CACNA1A | Ile | Ile | 1576 | ATC | 3 | N/A |
| EP_30552_93_SD3_13 | chr19 | 13226939 | + | CATCAGCGCC.AGCCGCTGAC | novel | A/G | unknown | coding_synon | NM_000068 | CACNA1A | Ile | Ile | 1576 | ATC | 3 | N/A |
| EP_30553_112_SD3_13 | chr19 | 13224854 | + | GTGTTCAACA.CGTCTTCACC | novel | T/C | unknown | coding_nonsynon | NM_023035 | CACNA1A | Ile | Thr | 1603 | ATC | 2 | N/A |
| EP_30553_112_SD3_13 | chr19 | 13224854 | + | GTGTTCAACA.CGTCTTCACC | novel | T/C | unknown | coding_nonsynon | NM_000068 | CACNA1A | Ile | Thr | 1603 | ATC | 2 | N/A |
| EP_30554_213_SD3_13 | chr19 | 13217120 | + | GGACGAGGCA.GCGGCAGGGG | novel | G/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30554_213_SD3_13 | chr19 | 13217120 | + | GGACGAGGCA.GCGGCAGGGG | novel | G/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30562_70_SD3_13 | chr19 | 13186322 | + | CAGGAGGAGC.GACAAACAGC | novel | C/T | unknown | coding_synon | NM_023035 | CACNA1A | Ala | Ala | 1914 | GCC | 3 | N/A |
| EP_30562_70_SD3_13 | chr19 | 13186322 | + | CAGGAGGAGC.GACAAACAGC | novel | C/T | unknown | coding_synon | NM_000068 | CACNA1A | Ala | Ala | 1914 | GCC | 3 | N/A |
| EP_30563_120_SD3_13 | chr19 | 13186104 | + | GAGTACTACC.GCAGAGCAAG | novel | A/G | unknown | coding_nonsynon | NM_023035 | CACNA1A | Arg | Gln | 1967 | CGG | 2 | N/A |
| EP_30563_120_SD3_13 | chr19 | 13186104 | + | GAGTACTACC.GCAGAGCAAG | novel | A/G | unknown | coding_nonsynon | NM_000068 | CACNA1A | Arg | Gln | 1967 | CGG | 2 | N/A |
| EP_30563_47_SD3_13 | chr19 | 13186031 | + | TGAGCTCACC.TGTGTGTGCC | novel | A/G | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30563_47_SD3_13 | chr19 | 13186031 | + | TGAGCTCACC.TGTGTGTGCC | novel | A/G | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30564_213_SD3_13 | chr19 | 13184595 | + | TGTGGGGGTG.CGTGGTCCCC | novel | C/A | unknown | intron | NM_023035 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30564_213_SD3_13 | chr19 | 13184595 | + | TGTGGGGGTG.CGTGGTCCCC | novel | C/A | unknown | intron | NM_000068 | CACNA1A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30566_138_SD3_13 | chr19 | 13183968 | + | AGGCCAGGGC.GGGCTGCCTC | novel | T/C | unknown | coding_nonsynon | NM_023035 | CACNA1A | Arg | Trp | 2090 | CGG | 1 | N/A |
| EP_30566_138_SD3_13 | chr19 | 13183968 | + | AGGCCAGGGC.GGGCTGCCTC | novel | T/C | unknown | coding_nonsynon | NM_000068 | CACNA1A | Arg | Trp | 2090 | CGG | 1 | N/A |
| EP_30568_101_SD3_13 | chr19 | 13181164 | + | GTTCAGCCTC.GTGCTGGGCC | novel | T/C | unknown | coding_synon | NM_023035 | CACNA1A | Ser | Ser | 2127 | TCC | 3 | N/A |
| EP_30568_101_SD3_13 | chr19 | 13181164 | + | GTTCAGCCTC.GTGCTGGGCC | novel | T/C | unknown | coding_synon | NM_000068 | CACNA1A | Ser | Ser | 2127 | TCC | 3 | N/A |
| EP_30568_65_SD3_13 | chr19 | 13181128 | + | TCCCCCAGAC.ATCTCAGACA | novel | C/G | unknown | coding_synon | NM_023035 | CACNA1A | Thr | Thr | 2115 | ACC | 3 | N/A |
| EP_30568_65_SD3_13 | chr19 | 13181128 | + | TCCCCCAGAC.ATCTCAGACA | novel | C/G | unknown | coding_synon | NM_000068 | CACNA1A | Thr | Thr | 2115 | ACC | 3 | N/A |
| EP_30569_195_SD3_13 | chr19 | 13180698 | + | ACCACCACCA.CCCCCGCCCC | novel | T/C | unknown | coding_nonsynon | NM_023035 | CACNA1A | His | Asp | 2219 | CAC | 1 | N/A |
| EP_30569_195_SD3_13 | chr19 | 13180698 | + | ACCACCACCA.CCCCCGCCCC | novel | T/C | unknown | coding_nonsynon | NM_000068 | CACNA1A | His | Asp | 2219 | CAC | 1 | N/A |
| EP_30571_257_SD3_13 | chr19 | 13179735 | + | GCAGCAGCAG.AGGCGGTGGC | novel | C/- | unknown | coding_nonsynon | NM_023035 | CACNA1A | Gln | N/A | 2326 | CAG | 1 | N/A |
| EP_30571_257_SD3_13 | chr19 | 13179735 | + | GCAGCAGCAG.AGGCGGTGGC | novel | C/- | unknown | 3' UTR | NM_000068 | CACNA1A | Gln | N/A | 2326 | CAG | 1 | N/A |
| EP_30571_258_SD3_13 | chr19 | 13179736 | + | CAGCAGCAGC.GGCGGTGGCC | novel | A/- | unknown | coding_nonsynon | NM_023035 | CACNA1A | Arg | N/A | 2305 | CGT | 3 | N/A |
| EP_30571_258_SD3_13 | chr19 | 13179736 | + | CAGCAGCAGC.GGCGGTGGCC | novel | A/- | unknown | 3' UTR | NM_000068 | CACNA1A | Arg | N/A | 2305 | CGT | 3 | N/A |
| EP_30571_259_SD3_13 | chr19 | 13179737 | + | AGCAGCAGCA.GCGGTGGCCA | novel | G/- | unknown | coding_nonsynon | NM_023035 | CACNA1A | Arg | N/A | 2305 | CGT | 2 | N/A |
| EP_30571_259_SD3_13 | chr19 | 13179737 | + | AGCAGCAGCA.GCGGTGGCCA | novel | G/- | unknown | 3' UTR | NM_000068 | CACNA1A | Arg | N/A | 2305 | CGT | 2 | N/A |
| EP_30581_237_SD3_13 | chr9 | 139897191 | + | CCAGCGTGTG.GGCCCGGGCG | rs1110146 | A/C | by-cluster_by-2hit-2allele | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30581_29_SD3_13 | chr9 | 139896983 | + | CCGGGTAGGG.CCAGGGGTGA | novel | G/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30582_102_SD3_13 | chr9 | 139927492 | + | ACCTGCGAAC.CTGAGGGCTG | novel | A/G | unknown | coding_synon | NM_000718 | CACNA1B | Thr | Thr | 190 | ACA | 3 | N/A |
| EP_30584_50_SD3_13 | chr9 | 139931501 | + | CTGCTTCATT.TCCTTCTTGC | novel | C/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30585_238_SD3_13 | chr9 | 139966692 | + | CCCTCTGTGT.CTCAGCTGAG | novel | C/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30589_231_SD3_13 | chr9 | 139985810 | + | CCCTGAACAC.CTGTGTGTGG | novel | A/T | unknown | coding_synon | NM_000718 | CACNA1B | Thr | Thr | 496 | ACA | 3 | N/A |
| EP_30590_196_SD3_13 | chr9 | 139990309 | + | GAGAGGCCTG.TCAGGGGCCC | novel | A/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30590_57_SD3_13 | chr9 | 139990170 | + | TCTTCTCCGG.TTCTCCTAGA | novel | C/T | unknown | splice_region | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30591_127_SD3_13 | chr9 | 139998475 | + | TCCTTTGGGA.CAGTGTGCTG | novel | T/G | unknown | coding_nonsynon | NM_000718 | CACNA1B | Ile | Ser | 574 | ATC | 2 | N/A |
| EP_30591_39_SD3_13 | chr9 | 139998387 | + | CGGTGCACCC.AGGCTAATGC | novel | A/G | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30591_89_SD3_13 | chr9 | 139998437 | + | TCTTTGAAGT.GTCTGGGCGG | rs11137331 | G/A | by-frequency | coding_synon | NM_000718 | CACNA1B | Val | Val | 561 | GTG | 3 | N/A |
| EP_30592_22_SD3_13 | chr9 | 140000645 | + | ATGTGAAGTC.GCGTCTGGAG | novel | A/G | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30593_132_SD3_13 | chr9 | 140001106 | + | CCTTCCCTGC.GCCATCCTCA | novel | C/T | unknown | coding_synon | NM_000718 | CACNA1B | Ala | Ala | 651 | GCC | 3 | N/A |
| EP_30593_161_SD3_13 | chr9 | 140001135 | + | CAGGTAAGGC.CCTGCTCTGC | rs7034745 | A/C | by-cluster_by-frequency_by-2hit-2allele | splice_region | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30593_29_SD3_13 | chr9 | 140001003 | + | CTGCAGGCGC.GCCTCGCTGC | novel | A/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30596_132_SD3_13 | chr9 | 140027471 | + | AGTGGCTGAA.TCAGCCCCAT | novel | A/G | unknown | coding_nonsynon | NM_000718 | CACNA1B | Val | Ile | 744 | GTC | 1 | N/A |
| EP_30596_168_SD3_13 | chr9 | 140027507 | + | CTCCATCGCC.CGTAAGGCTC | novel | G/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | Ala | Thr | 756 | GCC | 1 | N/A |
| EP_30599_38_SD3_13 | chr9 | 140039183 | + | GGGATCACAG.TGTGAGCCAC | rs7848646 | G/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30601_44_SD3_13 | chr9 | 140061146 | + | CGGCTGGGGG.CCTTGTGGTG | novel | G/A | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30603_44_SD3_13 | chr9 | 140063463 | + | CGTATCTAAC.TGTGTTTCTC | novel | G/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30606_122_SD3_13 | chr9 | 140072056 | + | AGCCCAGGCA.TGGAAGAAAT | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Gln | Gln | 1340 | CAG | 3 | N/A |
| EP_30606_173_SD3_13 | chr9 | 140072107 | + | CTCTGCTGAC.CTGTTCACAG | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Thr | Thr | 1357 | ACG | 3 | N/A |
| EP_30607_122_SD3_13 | chr9 | 140072381 | + | CCTGGGTACC.CATGGAGCTG | novel | G/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | Arg | His | 1389 | CGC | 2 | N/A |
| EP_30607_168_SD3_13 | chr9 | 140072427 | + | TGGTCTTTCC.TTCTTCTTCG | novel | T/C | unknown | coding_synon | NM_000718 | CACNA1B | Pro | Pro | 1404 | CCC | 3 | N/A |
| EP_30607_252_SD3_13 | chr9 | 140072511 | + | AATGCAGCCT.GAGAAGAACG | rs2229950 | G/A | by-cluster_by-frequency | coding_synon | NM_000718 | CACNA1B | Leu | Leu | 1432 | CTG | 3 | N/A |
| EP_30607_255_SD3_13 | chr9 | 140072514 | + | GCAGCCTGGA.AAGAACGAGG | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Glu | Glu | 1433 | GAG | 3 | N/A |
| EP_30607_274_SD3_13 | chr9 | 140072533 | + | GGTAGGTGGA.GCTCTGTGGA | novel | C/T | unknown | splice_region | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30608_244_SD3_13 | chr9 | 140073023 | + | GGGGCTCAGC.CAGAGGGGCA | novel | G/A | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30609_152_SD3_13 | chr9 | 140073441 | + | GCGTGCTGAA.ATCATCGCCT | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Lys | Lys | 1521 | AAG | 3 | N/A |
| EP_30610_126_SD3_13 | chr9 | 140073990 | + | TATTACTGAT.TTTTAGTAAC | novel | C/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | Ile | Leu | 1550 | ATT | 1 | N/A |
| EP_30611_118_SD3_13 | chr9 | 140087809 | + | AGCTGCGCGG.TGATCAAGCT | novel | C/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | Leu | Met | 1575 | CTG | 1 | N/A |
| EP_30613_199_SD3_13 | chr9 | 140090216 | + | GCCAATGTCT.CTCTTCCGTC | novel | A/G | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30613_27_SD3_13 | chr9 | 140090044 | + | CCTGGCGCGG.TCCTGCAGAC | novel | C/A | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30614_21_SD3_13 | chr9 | 140092335 | + | CCACAGGGCT.GGGCTCCCTC | novel | T/C | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30614_62_SD3_13 | chr9 | 140092376 | + | CAACTCTGCC.TTCTTCTCAG | novel | C/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30614_82_SD3_13 | chr9 | 140092396 | + | GGAGCGCCAC.GGGGAGGCCT | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Thr | Thr | 1653 | ACG | 3 | N/A |
| EP_30616_80_SD3_13 | chr9 | 140116955 | + | ACCCCACTGT.CCCTGGCCTC | novel | G/A | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30616_92_SD3_13 | chr9 | 140116967 | + | CCTGGCCTCG.TGGGACGGGT | rs7042754 | C/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30618_125_SD3_13 | chr9 | 140126733 | + | TGTGTGGGCC.ATCTGCCCCA | novel | A/C | unknown | coding_nonsynon | NM_000718 | CACNA1B | Asn | His | 1831 | AAT | 1 | N/A |
| EP_30618_199_SD3_13 | chr9 | 140126807 | + | AATGCCCCCA.CCCCCACCTT | novel | T/G | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30619_109_SD3_13 | chr9 | 140128697 | + | TGATGATATT.GACTTCTACA | rs2229948 | T/C | by-frequency_by-2hit-2allele | coding_synon | NM_000718 | CACNA1B | Phe | Phe | 1861 | TTC | 3 | N/A |
| EP_30619_184_SD3_13 | chr9 | 140128772 | + | AGGTAGCTGG.GGCCCTCAGT | novel | C/A | unknown | splice_region | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30622_221_SD3_13 | chr9 | 140133083 | + | CTGGGCAAGT.GGGGGTGGGG | rs34196125 | G/C | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30623_224_SD3_13 | chr9 | 140134599 | + | ACAGGAAGCA.AGGTCCCTGG | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Gln | Gln | 2064 | CAG | 3 | N/A |
| EP_30623_258_SD3_13 | chr9 | 140134633 | + | CCTGTCTGCC.ATATGGATGG | novel | G/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | Asp | Asn | 2076 | GAT | 1 | N/A |
| EP_30623_289_SD3_13 | chr9 | 140134664 | + | GGAGGGGCCC.GGGAGTCCTT | novel | G/A | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30623_315_SD3_13 | chr9 | 140134690 | + | AGCTATGGCC.GAGTCAGGGG | novel | C/T | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30623_323_SD3_13 | chr9 | 140134698 | + | CCCGAGTCAG.GGGTCCAAGC | novel | A/G | unknown | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30624_103_SD3_13 | chr9 | 140134926 | + | CTGTGGGGCC.GGGCTGCCCC | novel | G/A | unknown | coding_synon | NM_000718 | CACNA1B | Pro | Pro | 2087 | CCG | 3 | N/A |
| EP_30624_147_SD3_13 | chr9 | 140134970 | + | CGGCGGGAAC.AGAGCGCCGG | novel | G/T | unknown | coding_nonsynon | NM_000718 | CACNA1B | Arg | Leu | 2102 | CGA | 2 | N/A |
| EP_30624_234_SD3_13 | chr9 | 140135057 | + | TACTCCTGCG.CCGCTTTGGG | novel | A/T | unknown | coding_nonsynon | NM_000718 | CACNA1B | Asp | Val | 2131 | GAC | 2 | N/A |
| EP_30624_294_SD3_13 | chr9 | 140135117 | + | CACCCAACGT.GCCAACAGCT | novel | C/T | unknown | coding_nonsynon | NM_000718 | CACNA1B | Ser | Leu | 2151 | TCG | 2 | N/A |
| EP_30624_349_SD3_13 | chr9 | 140135172 | + | GAATAGGTGG.GAGGTCAGGG | rs2278972 | A/G | by-frequency | intron | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30624_76_SD3_13 | chr9 | 140134899 | + | CTCTTCCCTG.CCAGCACCAA | novel | G/C | unknown | splice_region | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30625_123_SD3_13 | chr9 | 140135798 | + | CTAGCACCCC.GGCCGCGGTG | novel | C/T | unknown | coding_synon | NM_000718 | CACNA1B | Pro | Pro | 2182 | CCC | 3 | N/A |
| EP_30625_261_SD3_13 | chr9 | 140135936 | + | CAGGCCGGCT.AGCCGTGGGC | novel | C/A | unknown | coding_synon | NM_000718 | CACNA1B | Leu | Leu | 2228 | CTC | 3 | N/A |
| EP_30626_132_SD3_13 | chr9 | 140136083 | + | CTGAGGACAC.CTCACTTTCG | rs2278973 | G/T | by-frequency_by-2hit-2allele | coding_synon | NM_000718 | CACNA1B | Thr | Thr | 2277 | ACT | 3 | N/A |
| EP_30626_156_SD3_13 | chr9 | 140136107 | + | AGGCTGTGGC.ACCAACTCGG | novel | T/C | unknown | coding_synon | NM_000718 | CACNA1B | Ala | Ala | 2285 | GCC | 3 | N/A |
| EP_30626_190_SD3_13 | chr9 | 140136141 | + | GACTTCCTAC.TGTCCTCCCT | novel | G/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | Val | Met | 2297 | GTG | 1 | N/A |
| EP_30626_311_SD3_13 | chr9 | 140136262 | + | GACCAAGACC.CTGGTGCTAG | novel | G/A | unknown | coding_nonsynon | NM_000718 | CACNA1B | His | Arg | 2337 | CAC | 2 | N/A |
| EP_30627_156_SD3_13 | chr9 | 140136352 | + | CACGGGGCAG.CGGCCCTCGG | rs2229949 | T/C | by-frequency_by-2hit-2allele | 3' UTR | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30627_218_SD3_13 | chr9 | 140136414 | + | CCTCCCCCTC.TCCCCTCTTT | novel | C/A | unknown | 3' UTR | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30627_242_SD3_13 | chr9 | 140136438 | + | TCTAGACGAC.AATAAAGCCC | rs9776396 | G/A | by-frequency | 3' UTR | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30627_27_SD3_13 | chr9 | 140136223 | + | AGCTCGGGTG.CCGAGCACGG | novel | G/C | unknown | coding_nonsynon | NM_000718 | CACNA1B | Gly | Ala | 2324 | GGC | 2 | N/A |
| EP_30627_280_SD3_13 | chr9 | 140136476 | + | CTCTCTGTCC.CTTCCTGTCC | novel | C/G | unknown | promoter | NM_000718 | CACNA1B | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30627_66_SD3_13 | chr9 | 140136262 | + | GACCAAGACC.CTGGTGCTAG | novel | A/G | unknown | coding_nonsynon | NM_000718 | CACNA1B | His | Arg | 2337 | CAC | 2 | N/A |
| EP_30628_348_SD3_13 | chr12 | 2033010 | + | AGAATACGAG.ATGTACATTC | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Arg | Arg | 7 | AGG | 3 | N/A |
| EP_30630_184_SD3_13 | chr12 | 2094772 | + | CGGCCATCGA.GCAGCCCGGC | rs34419050 | C/T | unknown | coding_synon | NM_000719 | CACNA1C | Asp | Asp | 57 | GAC | 3 | N/A |
| EP_30630_226_SD3_13 | chr12 | 2094814 | + | CTGGCAATGC.ACCATCTCCA | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 71 | GCG | 3 | N/A |
| EP_30630_401_SD3_13 | chr12 | 2094989 | + | TTTGTTCACC.GGCTGGGCAT | novel | A/G | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30631_104_SD3_13 | chr12 | 2099729 | + | TGTGGCATTA.CTTCCTTGAC | novel | G/A | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30631_112_SD3_13 | chr12 | 2099737 | + | TAACTTCCTT.ACTCCCTTTC | novel | A/G | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30631_164_SD3_13 | chr12 | 2099789 | + | TATTTTTGCC.ATTGTGTGGC | novel | A/G | unknown | coding_nonsynon | NM_000719 | CACNA1C | Asn | Asp | 137 | AAT | 1 | N/A |
| EP_30631_181_SD3_13 | chr12 | 2099806 | + | TGGCCTTAGC.ATCTATATTC | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 142 | GCG | 3 | N/A |
| EP_30632_109_SD3_13 | chr12 | 2428447 | + | CGGTGGAAGC.TTTTTAAAAG | rs1544514 | G/A | by-submitter | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 174 | GCG | 3 | N/A |
| EP_30632_206_SD3_13 | chr12 | 2428544 | + | GGTTGTGGGG.AAGTATCACT | novel | T/C | unknown | splice_site | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30632_221_SD3_13 | chr12 | 2428559 | + | ATCACTGTCT.TTTCTTTCCC | rs1544515 | G/A | by-cluster_by-2hit-2allele | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30632_223_SD3_13 | chr12 | 2428561 | + | CACTGTCTGT.TCTTTCCCTT | rs1544516 | T/C | by-cluster_by-2hit-2allele | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30634_133_SD3_13 | chr12 | 2465601 | + | TGCTTGTGCT.TTTGTCATCA | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Leu | Leu | 276 | CTG | 3 | N/A |
| EP_30634_211_SD3_13 | chr12 | 2465679 | + | ACAACCAGGA.GGCATAGCAG | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Glu | Glu | 302 | GAG | 3 | N/A |
| EP_30634_242_SD3_13 | chr12 | 2465710 | + | CAGGCGGCTG.GCTCCCAAGG | novel | T/C | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30634_25_SD3_13 | chr12 | 2465493 | + | ACGGTACCGC.GTGATGCTTG | novel | A/G | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30634_76_SD3_13 | chr12 | 2465544 | + | TCCAGGTGGT.CTGAATTCCA | novel | C/T | unknown | coding_synon | NM_000719 | CACNA1C | Val | Val | 257 | GTC | 3 | N/A |
| EP_30635_112_SD3_13 | chr12 | 2472666 | + | AAACGGGCCA.GGGCGGCAGT | novel | T/C | unknown | coding_synon | NM_000719 | CACNA1C | His | His | 322 | CAC | 3 | N/A |
| EP_30635_285_SD3_13 | chr12 | 2472839 | + | GGGCAGTCAG.GGGTGGGGGA | novel | A/C | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30635_37_SD3_13 | chr12 | 2472591 | + | CTGCTCCCGT.TCCTGTCTTC | novel | C/G | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30636_69_SD3_13 | chr12 | 2484249 | + | GCCTCACTAA.TATCATTCCG | novel | C/A | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30637_246_SD3_13 | chr12 | 2492422 | + | GTGAGCAGCC.TCTTCTTCTG | novel | G/A | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30638_36_SD3_13 | chr12 | 2529343 | + | CTCAATGCCT.GCTCTGCTTC | rs11062272 | G/T | by-2hit-2allele | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30639_126_SD3_13 | chr12 | 2536441 | + | TTCCTTCTGC.ACCAGCTCTG | novel | C/T | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30645_159_SD3_13 | chr12 | 2564899 | + | TCACGGCTGA.GGAGAGTCTC | rs215976 | C/T | by-frequency_by-submitter_by-2hit-2allele | coding_synon | NM_000719 | CACNA1C | Asp | Asp | 812 | GAC | 3 | N/A |
| EP_30647_179_SD3_13 | chr12 | 2572746 | + | AAGCCAGCGC.TTTTTCATCT | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 879 | GCG | 3 | N/A |
| EP_30649_127_SD3_13 | chr12 | 2576721 | + | CTGAAGGTAA.GCCCCCATCC | novel | A/T | unknown | splice_region | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30649_83_SD3_13 | chr12 | 2576677 | + | ATTTTGATAT.GTTTTTACCA | novel | T/G | unknown | coding_nonsynon | NM_000719 | CACNA1C | Ile | Met | 938 | ATT | 3 | N/A |
| EP_30650_61_SD3_13 | chr12 | 2581277 | + | GTCCCTCCCT.CAGATGACTG | novel | A/G | unknown | splice_region | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30655_44_SD3_13 | chr12 | 2587911 | + | CTCCAGTTCC.TCTGTGGGAC | novel | C/A | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30657_133_SD3_13 | chr12 | 2591398 | + | CTGGCCTCTT.ACCGTGGAGA | rs216008 | C/T | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_000719 | CACNA1C | Phe | Phe | 1262 | TTC | 3 | N/A |
| EP_30659_61_SD3_13 | chr12 | 2627900 | + | CTTTCTTTAA.GCCAGCTGAA | novel | A/- | unknown | splice_site | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30660_155_SD3_13 | chr12 | 2631159 | + | GGGAGGGCAT.CGGACGCTGC | novel | C/T | unknown | coding_synon | NM_000719 | CACNA1C | Ile | Ile | 1346 | ATC | 3 | N/A |
| EP_30660_224_SD3_13 | chr12 | 2631228 | + | GGCCCGGGGA.TCGCAGGGCT | novel | A/- | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30660_227_SD3_13 | chr12 | 2631231 | + | CCGGGGAATC.CAGGGCTGCC | rs1990322 | A/G | by-2hit-2allele | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30660_51_SD3_13 | chr12 | 2631055 | + | TCCTGTTGCC.ACGGGTTCCA | novel | G/A | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30661_21_SD3_13 | chr12 | 2633192 | + | GGGATGCGGC.CTCCCTGGGA | novel | A/G | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30664_149_SD3_13 | chr12 | 2645094 | + | ACCACCTGGA.GAGTTTAAAA | novel | C/T | unknown | coding_synon | NM_000719 | CACNA1C | Asp | Asp | 1495 | GAT | 3 | N/A |
| EP_30666_25_SD3_13 | chr12 | 2648322 | + | TAAGCACCGC.TGCCATCATC | novel | C/G | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30666_26_SD3_13 | chr12 | 2648323 | + | AAGCACCGCC.GCCATCATCA | novel | A/T | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30667_101_SD3_13 | chr12 | 2654002 | + | AGCTGCGGGC.ATCATCAAGA | novel | A/G | unknown | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 1587 | GCG | 3 | N/A |
| EP_30667_113_SD3_13 | chr12 | 2654014 | + | TCATCAAGAA.ATCTGGAAGC | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Lys | Lys | 1591 | AAG | 3 | N/A |
| EP_30669_226_SD3_13 | chr12 | 2657319 | + | GGCGCACTCT.GACCCCTATA | rs2302731 | C/T | by-frequency | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30670_190_SD3_13 | chr12 | 2658998 | + | CAGGGCGACA.TGAGTCGCCA | novel | G/C | unknown | coding_nonsynon | NM_000719 | CACNA1C | Thr | Ser | 1740 | ACT | 2 | N/A |
| EP_30670_263_SD3_13 | chr12 | 2659071 | + | CCGGCTCCAA.GCCAACATCA | novel | T/C | unknown | coding_synon | NM_000719 | CACNA1C | Asn | Asn | 1764 | AAC | 3 | N/A |
| EP_30670_332_SD3_13 | chr12 | 2659140 | + | ACCCCAGCAC.GTCAGCACTG | rs1051375 | A/G | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_000719 | CACNA1C | Thr | Thr | 1787 | ACG | 3 | N/A |
| EP_30670_68_SD3_13 | chr12 | 2658876 | + | TACAGAGGGC.GGTGGCCTGT | novel | C/T | unknown | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 1699 | GCC | 3 | N/A |
| EP_30671_96_SD3_13 | chr12 | 2662010 | + | CAGCCATGGC.GGTCAGGAGG | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Ala | Ala | 1826 | GCG | 3 | N/A |
| EP_30672_138_SD3_13 | chr12 | 2665238 | + | GGCAATCTCC.AAGAGGGGTT | novel | G/A | unknown | coding_synon | NM_000719 | CACNA1C | Pro | Pro | 1883 | CCG | 3 | N/A |
| EP_30672_180_SD3_13 | chr12 | 2665280 | + | GTAAATGCAC.GCTCGCTCTC | novel | C/T | unknown | intron | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30672_82_SD3_13 | chr12 | 2665182 | + | CCAGGATGAC.AAAATCGGCA | novel | G/A | unknown | coding_nonsynon | NM_000719 | CACNA1C | Glu | Lys | 1865 | GAA | 1 | N/A |
| EP_30676_370_SD3_13 | chr12 | 2670910 | + | GCCGCGCCTC.GCGGGGAGAG | rs11062319 | T/C | by-2hit-2allele | 3' UTR | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30677_239_SD3_13 | chr12 | 2671216 | + | CCCCGACCGG.ACGGGCCACG | novel | C/T | unknown | 3' UTR | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30677_261_SD3_13 | chr12 | 2671238 | + | CGAGCTCCCG.CCAGCCGCCG | novel | G/A | unknown | 3' UTR | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30679_111_SD3_13 | chr12 | 2671926 | + | GTGGGAAGAT.TGAATCTGGG | novel | C/T | unknown | 3' UTR | NM_000719 | CACNA1C | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30680_149_SD3_13 | chr3 | 53504180 | + | CGCCCCCGCC.CAACGCCCAG | rs312480 | C/T | by-frequency | 5' UTR | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30681_67_SD3_13 | chr3 | 53504220 | + | TAGTCGCTCA.TAAATGTTCG | novel | A/- | unknown | 5' UTR | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30682_167_SD3_13 | chr3 | 53506323 | + | AGCTGCAATC.ATGCTGCTAG | novel | G/A | unknown | coding_nonsynon | NM_000720 | CACNA1D | Asp | Asn | 58 | GAT | 1 | N/A |
| EP_30682_259_SD3_13 | chr3 | 53506415 | + | GTCAGCAATA.GCCAAGAGCA | rs28365112 | C/T | by-cluster_by-frequency | coding_synon | NM_000720 | CACNA1D | Tyr | Tyr | 88 | TAC | 3 | N/A |
| EP_30682_375_SD3_13 | chr3 | 53506531 | + | GAATGGAAGT.TCCTTTTTTT | novel | A/G | unknown | splice_region | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30682_420_SD3_13 | chr3 | 53506576 | + | TTTTACCATC.GTTTTTTAAA | novel | T/G | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30684_203_SD3_13 | chr3 | 53659986 | + | TAATAGTAGG.TAAGTCTCTT | novel | G/T | unknown | splice_site | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30684_246_SD3_13 | chr3 | 53660029 | + | TGGAAAATGG.AGGTGGAGGT | novel | G/A | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30687_166_SD3_13 | chr3 | 53675509 | + | TTGGCCCGAA.GGAGGCATCA | novel | C/T | unknown | coding_synon | NM_000720 | CACNA1D | Asn | Asn | 341 | AAC | 3 | N/A |
| EP_30687_247_SD3_13 | chr3 | 53675590 | + | GCTGGACAGA.GTGCTCTACT | rs2250736 | C/T | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_000720 | CACNA1D | Asp | Asp | 368 | GAT | 3 | N/A |
| EP_30687_70_SD3_13 | chr3 | 53675413 | + | CAGATATCGT.GCTGAAGAGG | rs33970402 | A/G | by-cluster_by-frequency | coding_synon | NM_000720 | CACNA1D | Val | Val | 309 | GTA | 3 | N/A |
| EP_30689_21_SD3_13 | chr3 | 53711664 | + | ATGCAGGTCC.CAAGGATGTC | novel | C/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30690_107_SD3_13 | chr3 | 53727384 | + | TGCCCACCAG.GAGACTGAGT | novel | T/C | unknown | coding_synon | NM_000720 | CACNA1D | Ser | Ser | 469 | AGC | 3 | N/A |
| EP_30690_140_SD3_13 | chr3 | 53727417 | + | AGAACGTCAG.GGTGAAGGCG | rs35703378 | C/T | unknown | coding_synon | NM_000720 | CACNA1D | Ser | Ser | 480 | AGC | 3 | N/A |
| EP_30690_63_SD3_13 | chr3 | 53727340 | + | GCCCCGCATG.TCTCTGAAGC | novel | C/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30692_117_SD3_13 | chr3 | 53728876 | + | GTTTCTTCGT.AGCCTGTGTG | novel | C/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30693_146_SD3_13 | chr3 | 53731430 | + | ATGTAGGGCC.CCGTGAAGTC | novel | G/C | unknown | coding_nonsynon | NM_000720 | CACNA1D | Ala | Pro | 539 | GCC | 1 | N/A |
| EP_30694_305_SD3_13 | chr3 | 53732743 | + | AAATGTGGGT.CCACTGCAAA | novel | C/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30695_293_SD3_13 | chr3 | 53733089 | + | TCCATTCCCC.AAAAGCACTT | rs2070617 | G/A | by-cluster_by-frequency | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30696_228_SD3_13 | chr3 | 53736111 | + | GTCGTTATCT.GTTTTGTTTT | rs2306865 | G/C | by-cluster_by-frequency | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30699_54_SD3_13 | chr3 | 53741066 | + | CCTCCCAAGA.GTCTTTGTCA | rs2612033 | C/T | by-frequency_by-2hit-2allele | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30701_141_SD3_13 | chr3 | 53744519 | + | TGCTGAGCAG.GCTGCCCTGG | rs1045958 | C/T | by-cluster_by-frequency | coding_synon | NM_000720 | CACNA1D | Ser | Ser | 920 | AGC | 3 | N/A |
| EP_30701_150_SD3_13 | chr3 | 53744528 | + | GCGCTGCCCT.GCCGCAGAGG | novel | C/G | unknown | coding_synon | NM_000720 | CACNA1D | Leu | Leu | 923 | CTG | 3 | N/A |
| EP_30701_183_SD3_13 | chr3 | 53744561 | + | GCCACTCCTT.CGGAACACGG | novel | C/T | unknown | coding_synon | NM_000720 | CACNA1D | Phe | Phe | 934 | TTC | 3 | N/A |
| EP_30701_57_SD3_13 | chr3 | 53744435 | + | CGGCTTTTCC.TGCAGGATCC | novel | C/G | unknown | splice_region | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30703_201_SD3_13 | chr3 | 53752216 | + | CCCAGAATTG.TGGGCTGAAT | rs2680648 | T/C | by-frequency_by-2hit-2allele | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30703_42_SD3_13 | chr3 | 53752057 | + | AATGGTAAAT.ATCCATGATT | rs28365114 | C/A | by-cluster_by-frequency | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30704_171_SD3_13 | chr3 | 53753915 | + | CTCTCCTCCC.GCTGGGCTGG | rs2253795 | G/T | by-frequency_by-2hit-2allele | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30705_188_SD3_13 | chr3 | 53754816 | + | AACTGCCTCC.AGCATAAAAC | rs17053453 | A/G | by-frequency | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30706_52_SD3_13 | chr3 | 53754865 | + | GCATTTACTT.ACTGCCTGTC | rs3821860 | A/G | by-frequency | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30707_174_SD3_13 | chr3 | 53756480 | + | CTATGATGGC.CTCTTCACAG | rs36061665 | G/A | by-frequency | coding_synon | NM_000720 | CACNA1D | Ala | Ala | 1113 | GCG | 3 | N/A |
| EP_30707_261_SD3_13 | chr3 | 53756567 | + | GTGCCCAGGG.TGAGCCCTCC | novel | C/A | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30708_33_SD3_13 | chr3 | 53758285 | + | GGGCTGGGCC.TGTGGGCTGG | novel | G/A | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30712_117_SD3_13 | chr3 | 53779094 | + | GGTAAGATCA.TGACTAGTCC | novel | G/C | unknown | splice_region | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30712_84_SD3_13 | chr3 | 53779061 | + | TGAAAATGTC.CTGTCCCAAC | novel | C/T | unknown | coding_nonsynon | NM_000720 | CACNA1D | Pro | Ser | 1318 | CCT | 1 | N/A |
| EP_30712_90_SD3_13 | chr3 | 53779067 | + | TGTCCCTGTC.CAACTGCTAC | novel | C/A | unknown | coding_nonsynon | NM_000720 | CACNA1D | Pro | Thr | 1320 | CCA | 1 | N/A |
| EP_30713_123_SD3_13 | chr3 | 53779529 | + | TCACCTTTTT.CGTCTTTTCC | rs17053501 | C/T | by-cluster_by-frequency | coding_synon | NM_000720 | CACNA1D | Phe | Phe | 1338 | TTC | 3 | N/A |
| EP_30713_180_SD3_13 | chr3 | 53779586 | + | AAGGCATCCG.ACATTGCTGT | novel | G/A | unknown | coding_synon | NM_000720 | CACNA1D | Arg | Arg | 1357 | CGG | 3 | N/A |
| EP_30713_92_SD3_13 | chr3 | 53779498 | + | CAGAACTCTG.AGAGAGCAAT | novel | A/C | unknown | coding_nonsynon | NM_000720 | CACNA1D | Glu | Ala | 1328 | GAA | 2 | N/A |
| EP_30714_30_SD3_13 | chr3 | 53781857 | + | GCCGTCACGG.GACAGCCGGC | rs35146621 | G/A | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30716_191_SD3_13 | chr3 | 53785073 | + | ACTTTGCCAT.GTCTATTTCA | novel | C/T | unknown | coding_synon | NM_000720 | CACNA1D | Ile | Ile | 1461 | ATT | 3 | N/A |
| EP_30717_102_SD3_13 | chr3 | 53785709 | + | GGATAATTTC.ACTATCTGAC | novel | G/A | unknown | coding_nonsynon | NM_000720 | CACNA1D | Asp | Asn | 1488 | GAC | 1 | N/A |
| EP_30719_161_SD3_13 | chr3 | 53789191 | + | AGATCAAGAC.GAAGGTGAGC | novel | T/C | unknown | coding_synon | NM_000720 | CACNA1D | Thr | Thr | 1582 | ACC | 3 | N/A |
| EP_30719_207_SD3_13 | chr3 | 53789237 | + | CAGGAAAGGA.AGAGACATCA | rs1829423 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30722_134_SD3_13 | chr3 | 53809377 | + | TCGTGTGATT.GCAAGATGAC | novel | T/- | unknown | coding_nonsynon | NM_000720 | CACNA1D | Leu | N/A | 1682 | TTG | 2 | N/A |
| EP_30722_166_SD3_13 | chr3 | 53809409 | + | AACAAAACGA.AAGAAGAAGA | novel | G/A | unknown | coding_nonsynon | NM_000720 | CACNA1D | Glu | Lys | 1693 | GAA | 1 | N/A |
| EP_30722_22_SD3_13 | chr3 | 53809265 | + | CCCAGGCTGG.CCCAGGGCCC | novel | C/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30723_349_SD3_13 | chr3 | 53810405 | + | CGGCCCAGCA.TGGGAACCTT | novel | T/A | unknown | coding_nonsynon | NM_000720 | CACNA1D | Ile | Asn | 1794 | ATT | 2 | N/A |
| EP_30725_232_SD3_13 | chr3 | 53812659 | + | TCTGGCTCCT.TGGAGAGCGG | novel | G/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30725_275_SD3_13 | chr3 | 53812702 | + | CGGCCCACTC.GGAAGCCAGG | novel | C/T | unknown | intron | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30728_242_SD3_13 | chr3 | 53819224 | + | GCAGCCTGCC.TCCCTGCACC | rs34388124 | G/A | unknown | coding_synon | NM_000720 | CACNA1D | Pro | Pro | 2037 | CCG | 3 | N/A |
| EP_30729_220_SD3_13 | chr3 | 53820335 | + | CCCGAGCCAA.GGGGATGTGG | rs10154841 | C/T | by-cluster_by-frequency | coding_synon | NM_000720 | CACNA1D | Asn | Asn | 2136 | AAC | 3 | N/A |
| EP_30730_280_SD3_13 | chr3 | 53820691 | + | GCTCGGCCCC.GCTGCAGGAA | novel | A/G | unknown | 3' UTR | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30731_291_SD3_13 | chr3 | 53820958 | + | ACCCTTTCCC.CAAATACACT | novel | C/A | unknown | 3' UTR | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30731_347_SD3_13 | chr3 | 53821014 | + | GTGTGTAAGT.AGTCAGAACC | novel | A/C | unknown | promoter | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30731_375_SD3_13 | chr3 | 53821042 | + | CAGTGATTAT.GCGAGGGCAA | novel | T/C | unknown | promoter | NM_000720 | CACNA1D | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30735_49_SD3_13 | chr1 | 179747116 | + | TGCTTCTGCT.CTCATCCCCA | rs4083900 | C/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30737_196_SD3_13 | chr1 | 179814964 | + | TACATCGAGC.TGCTTCATGA | rs17443123 | A/G | by-frequency | coding_synon | NM_000721 | CACNA1E | Ala | Ala | 250 | GCA | 3 | N/A |
| EP_30738_106_SD3_13 | chr1 | 179816397 | + | GTGGTGTGCA.GGCTGCCCAG | novel | G/A | unknown | coding_synon | NM_000721 | CACNA1E | Gln | Gln | 271 | CAG | 3 | N/A |
| EP_30739_146_SD3_13 | chr1 | 179887168 | + | GATCCTTCTT.GTTCTCAACC | novel | T/C | unknown | coding_synon | NM_000721 | CACNA1E | Phe | Phe | 341 | TTT | 3 | N/A |
| EP_30739_176_SD3_13 | chr1 | 179887198 | + | GAGTGCTTTC.GGGTGAGCCA | novel | A/C | unknown | coding_synon | NM_000721 | CACNA1E | Ser | Ser | 351 | TCC | 3 | N/A |
| EP_30740_234_SD3_13 | chr1 | 179946884 | + | CATCAGGGCC.GCCCCTCACT | novel | G/A | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30740_55_SD3_13 | chr1 | 179946705 | + | TATCCTTCTT.TCCACAGGGA | rs17743547 | G/A | by-frequency | splice_region | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30742_164_SD3_13 | chr1 | 179951900 | + | TGAGTGGATC.AGTTAGATCT | novel | C/G | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30743_21_SD3_13 | chr1 | 179952802 | + | TCCCTGGCCC.GACCACAGGA | novel | A/G | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30743_28_SD3_13 | chr1 | 179952809 | + | CCCGGACCAC.GGATATTTTG | novel | A/C | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30743_58_SD3_13 | chr1 | 179952839 | + | TCTTCCTTAC.TCTCCCTCTT | rs7540850 | C/T | by-2hit-2allele | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30745_205_SD3_13 | chr1 | 179955652 | + | ACTTTTCCCA.TGTCTTTGAG | novel | A/G | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30745_44_SD3_13 | chr1 | 179955491 | + | TCTCACTGTG.CTGGCATTGC | rs4651113 | G/A | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30747_21_SD3_13 | chr1 | 179956498 | + | AAACTTGGTA.GTGAGATTTT | novel | T/G | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30748_34_SD3_13 | chr1 | 179957488 | + | GCCCAGGTTT.TGATGCGCCT | novel | C/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30748_40_SD3_13 | chr1 | 179957494 | + | GTTTCTGATG.GCCTGTCATT | novel | C/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30748_65_SD3_13 | chr1 | 179957519 | + | TTTTGTAGAT.CTGACGGGTG | novel | C/A | unknown | coding_synon | NM_000721 | CACNA1E | Ile | Ile | 653 | ATC | 3 | N/A |
| EP_30750_35_SD3_13 | chr1 | 179961796 | + | GGGGATCCCA.GCAAAGCCAT | novel | G/A | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30752_191_SD3_13 | chr1 | 179968601 | + | CAGAGCCAAC.GCGCAGCCGG | novel | G/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Arg | Gln | 919 | CGG | 2 | N/A |
| EP_30752_193_SD3_13 | chr1 | 179968603 | + | GAGCCAACGG.GCAGCCGGCA | novel | C/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Arg | Ser | 920 | CGC | 1 | N/A |
| EP_30752_333_SD3_13 | chr1 | 179968743 | + | GGGGCAACCA.GGTGCCAAGG | novel | T/G | unknown | coding_nonsynon | NM_000721 | CACNA1E | His | Gln | 966 | CAT | 3 | N/A |
| EP_30753_106_SD3_13 | chr1 | 179969239 | + | GCTGGCAGGA.GCCTTGATGA | novel | G/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Gly | Ser | 998 | GGC | 1 | N/A |
| EP_30753_294_SD3_13 | chr1 | 179969427 | + | CGGCCAACAC.GACAAGGCCA | novel | G/A | unknown | coding_synon | NM_000721 | CACNA1E | Thr | Thr | 1060 | ACG | 3 | N/A |
| EP_30754_56_SD3_13 | chr1 | 179972003 | + | GCCTCATGAT.TCTGAAGATT | novel | C/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30754_71_SD3_13 | chr1 | 179972018 | + | AAGATTTCAA.GTGTTCCTCT | novel | C/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30754_72_SD3_13 | chr1 | 179972019 | + | AGATTTCAAC.TGTTCCTCTT | rs11808627 | G/A | by-frequency | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30755_87_SD3_13 | chr1 | 179973308 | + | GCCACTACAT.GTGAACCTGC | rs34488539 | C/T | by-frequency | coding_synon | NM_000721 | CACNA1E | Ile | Ile | 1149 | ATC | 3 | N/A |
| EP_30758_42_SD3_13 | chr1 | 179986208 | + | TTGATTTTCT.CTGCTCTCTG | novel | A/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30758_77_SD3_13 | chr1 | 179986243 | + | AGGAACGCTT.GGGGTAAATA | novel | T/C | unknown | coding_nonsynon | NM_000721 | CACNA1E | Leu | Ser | 1243 | TTG | 2 | N/A |
| EP_30759_226_SD3_13 | chr1 | 179988041 | + | CCCTTCTCCC.TCTTCTCTCT | novel | G/A | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30759_73_SD3_13 | chr1 | 179987888 | + | TCCCTGGGGG.CTCTCCCCTG | rs2293991 | C/T | by-frequency | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30760_239_SD3_13 | chr1 | 179991172 | + | TGCCACCAGC.CATTCCACTT | novel | G/A | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30761_83_SD3_13 | chr1 | 179991733 | + | ATGTAGATCA.GAGAAAAACA | rs4652678 | T/C | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_000721 | CACNA1E | His | His | 1336 | CAT | 3 | N/A |
| EP_30762_84_SD3_13 | chr1 | 179992705 | + | ACTCTGTAGA.GTGACAGAGG | novel | T/C | unknown | coding_synon | NM_000721 | CACNA1E | Asp | Asp | 1383 | GAT | 3 | N/A |
| EP_30763_253_SD3_13 | chr1 | 179993896 | + | CACAAGAGCC.ACTGAGCCCC | rs704329 | G/A | by-frequency_by-2hit-2allele | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30763_266_SD3_13 | chr1 | 179993909 | + | TGAGCCCCAG.GATGGTTCCC | novel | T/C | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30764_113_SD3_13 | chr1 | 179994567 | + | ACCTGAATAT.GCCTTCACCA | novel | C/T | unknown | coding_synon | NM_000721 | CACNA1E | Ile | Ile | 1515 | ATC | 3 | N/A |
| EP_30764_116_SD3_13 | chr1 | 179994570 | + | TGAATATCGC.TTCACCATGG | novel | C/T | unknown | coding_synon | NM_000721 | CACNA1E | Ala | Ala | 1516 | GCC | 3 | N/A |
| EP_30764_184_SD3_13 | chr1 | 179994638 | + | GTATGTTGCT.AATCCTTCCC | novel | G/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30764_185_SD3_13 | chr1 | 179994639 | + | TATGTTGCTG.ATCCTTCCCA | rs9662282 | A/C | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30764_37_SD3_13 | chr1 | 179994491 | + | TGTGATTCTT.CTCTCTTCTT | novel | C/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30765_53_SD3_13 | chr1 | 179998239 | + | TTTTATTTCC.AGGGACAAAC | novel | A/C | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30766_145_SD3_13 | chr1 | 179999209 | + | TGAAGCTCTT.CGAGCTGCCC | novel | C/T | unknown | coding_synon | NM_000721 | CACNA1E | Phe | Phe | 1578 | TTC | 3 | N/A |
| EP_30766_254_SD3_13 | chr1 | 179999318 | + | ATCCTCTCTG.GGGTTGTCAT | novel | A/G | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30769_172_SD3_13 | chr1 | 180007924 | + | AGAACGAGAA.GAACGCTGCG | rs199930 | C/T | by-submitter | coding_synon | NM_000721 | CACNA1E | Asn | Asn | 1691 | AAC | 3 | N/A |
| EP_30769_32_SD3_13 | chr1 | 180007784 | + | GATAGGATCT.CAGAGCTGCT | novel | G/C | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30770_162_SD3_13 | chr1 | 180011959 | + | GTTTGTCCGC.TCTGGGCAGA | novel | G/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Val | Ile | 1747 | GTC | 1 | N/A |
| EP_30772_169_SD3_13 | chr1 | 180019536 | + | ACATTAAAAT.GCCAAAGGTA | novel | T/- | unknown | coding_nonsynon | NM_000721 | CACNA1E | Ile | N/A | 1821 | ATT | 3 | N/A |
| EP_30772_183_SD3_13 | chr1 | 180019550 | + | AAAGGTAAGC.TAGCTTAGGA | novel | T/- | unknown | splice_region | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_184_SD3_13 | chr1 | 180019551 | + | AAGGTAAGCT.AGCTTAGGAA | novel | T/- | unknown | splice_region | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_185_SD3_13 | chr1 | 180019552 | + | AGGTAAGCTT.GCTTAGGAAG | novel | A/- | unknown | splice_region | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_188_SD3_13 | chr1 | 180019555 | + | TAAGCTTAGC.TAGGAAGGGA | novel | -/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_189_SD3_13 | chr1 | 180019556 | + | AAGCTTAGCT.AGGAAGGGAG | novel | -/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_190_SD3_13 | chr1 | 180019557 | + | AGCTTAGCTT.GGAAGGGAGG | novel | A/- | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_202_SD3_13 | chr1 | 180019569 | + | GAAGGGAGGT.GGAAGGAGGA | novel | G/T | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30772_39_SD3_13 | chr1 | 180019406 | + | TTTTTTTTTT.GCCTGCTGTT | rs3927750 | T/G | unknown | intron | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30775_94_SD3_13 | chr1 | 180021503 | + | CGCATGGAGC.TTCATCTCTG | novel | C/T | unknown | coding_nonsynon | NM_000721 | CACNA1E | Pro | Leu | 1904 | CCT | 2 | N/A |
| EP_30776_120_SD3_13 | chr1 | 180026261 | + | ATATATTCCA.TTGGCTTGTA | rs34741608 | G/A | unknown | coding_synon | NM_000721 | CACNA1E | Gln | Gln | 1948 | CAG | 3 | N/A |
| EP_30776_129_SD3_13 | chr1 | 180026270 | + | AGTTGGCTTG.ATGGACCCCG | novel | T/C | unknown | coding_synon | NM_000721 | CACNA1E | Cys | Cys | 1951 | TGT | 3 | N/A |
| EP_30776_139_SD3_13 | chr1 | 180026280 | + | TATGGACCCC.CCGATGACGG | rs704326 | G/A | by-cluster_by-frequency_by-submitter_by-2hit-2allele | coding_nonsynon | NM_000721 | CACNA1E | Ala | Thr | 1955 | GCC | 1 | N/A |
| EP_30776_96_SD3_13 | chr1 | 180026237 | + | CGATGAGTCC.CTCTCTCCCC | rs35611740 | A/C | by-frequency | coding_synon | NM_000721 | CACNA1E | Pro | Pro | 1940 | CCA | 3 | N/A |
| EP_30778_215_SD3_13 | chr1 | 180032577 | + | CGTCAATCCA.GTCACCCAGT | novel | G/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Arg | Lys | 2077 | AGG | 2 | N/A |
| EP_30779_133_SD3_13 | chr1 | 180034121 | + | AGAAGTCGTC.GCAGCTCCCA | rs2480373 | G/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Arg | Gln | 2114 | CGG | 2 | N/A |
| EP_30779_178_SD3_13 | chr1 | 180034166 | + | CTCCTTTCCT.CAGCTCCCTG | novel | A/G | unknown | coding_nonsynon | NM_000721 | CACNA1E | Tyr | Cys | 2129 | TAC | 2 | N/A |
| EP_30779_193_SD3_13 | chr1 | 180034181 | + | TCCCTGATTC.ACACGCGGGC | novel | G/A | unknown | coding_nonsynon | NM_000721 | CACNA1E | Arg | Gln | 2134 | CGA | 2 | N/A |
| EP_30779_199_SD3_13 | chr1 | 180034187 | + | ATTCGACACG.GGGCAGCATC | novel | C/T | unknown | coding_nonsynon | NM_000721 | CACNA1E | Ala | Val | 2136 | GCG | 2 | N/A |
| EP_30779_200_SD3_13 | chr1 | 180034188 | + | TTCGACACGC.GGCAGCATCT | novel | A/G | unknown | coding_synon | NM_000721 | CACNA1E | Ala | Ala | 2136 | GCG | 3 | N/A |
| EP_30779_230_SD3_13 | chr1 | 180034218 | + | CTGATGGAAG.GAGGAGGGCT | rs34942364 | C/T | by-frequency | coding_synon | NM_000721 | CACNA1E | Ser | Ser | 2146 | AGC | 3 | N/A |
| EP_30780_340_SD3_13 | chr1 | 180034606 | + | GCTGCTCCCC.CTCCGATGCA | novel | C/A | unknown | 3' UTR | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30781_75_SD3_13 | chr1 | 180034606 | + | GCTGCTCCCC.CTCCGATGCA | novel | C/A | unknown | 3' UTR | NM_000721 | CACNA1E | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30784_160_SD3_13 | chrX | 48975181 | + | AAAGCAGTGG.GCATCAGGCC | novel | G/A | unknown | coding_synon | NM_005183 | CACNA1F | Gly | Gly | 41 | GGG | 3 | N/A |
| EP_30784_321_SD3_13 | chrX | 48975342 | + | AAGCATCCTG.AAGGCAGGGG | novel | G/C | unknown | splice_region | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30784_77_SD3_13 | chrX | 48975098 | + | CACCCCAGAG.CCAGTCCAGC | novel | C/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Pro | Thr | 14 | CCC | 1 | N/A |
| EP_30784_78_SD3_13 | chrX | 48975099 | + | ACCCCAGAGC.CAGTCCAGCC | novel | C/T | unknown | coding_nonsynon | NM_005183 | CACNA1F | Pro | Leu | 14 | CCC | 2 | N/A |
| EP_30786_180_SD3_13 | chrX | 48974373 | + | GAACCTACTC.ACTTCATCAT | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Asp | Asn | 167 | GAC | 1 | N/A |
| EP_30786_241_SD3_13 | chrX | 48974434 | + | TAGTCGCCTT.CTACCGTCAG | novel | C/T | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30786_27_SD3_13 | chrX | 48974220 | + | AAATAACTCC.CGACTTCCCG | novel | C/T | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30790_172_SD3_13 | chrX | 48971551 | + | AGTGGGTGAG.GACCTAGACA | novel | G/A | unknown | splice_region | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30795_107_SD3_13 | chrX | 48969359 | + | CGGGTCCTTC.GGCACGCTGC | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Ala | Val | 547 | GCC | 2 | N/A |
| EP_30795_180_SD3_13 | chrX | 48969432 | + | TCCTCAACAC.TTGACCATCG | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Arg | Cys | 523 | CGT | 1 | N/A |
| EP_30795_237_SD3_13 | chrX | 48969489 | + | AGATCCAGGG.ACACCCCCAG | novel | T/C | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30795_243_SD3_13 | chrX | 48969495 | + | AGGGTACACC.CCAGCCTGCT | novel | C/G | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30796_220_SD3_13 | chrX | 48968324 | + | TGGAGGTGGG.GCCATGCAGC | novel | C/T | unknown | coding_synon | NM_005183 | CACNA1F | Gly | Gly | 614 | GGC | 3 | N/A |
| EP_30796_281_SD3_13 | chrX | 48968385 | + | GATCTTTAAG.TCACCAGGTT | novel | G/A | unknown | coding_synon | NM_005183 | CACNA1F | Ala | Ala | 564 | GCC | 3 | N/A |
| EP_30801_150_SD3_13 | chrX | 48963963 | + | AGGTGTGGGA.CTTGGGGAAA | novel | T/C | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30803_197_SD3_13 | chrX | 48962858 | + | GCAACCATGT.AGCCTTTGGC | novel | G/A | unknown | splice_region | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30805_105_SD3_13 | chrX | 48962068 | + | CCTGCACCGC.GCTCCTTCTG | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Gly | Ser | 933 | GGC | 1 | N/A |
| EP_30807_153_SD3_13 | chrX | 48961391 | + | CGCCTGCATC.GGGTGCAGCT | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Gly | Arg | 1018 | GGG | 1 | N/A |
| EP_30810_102_SD3_13 | chrX | 48958785 | + | CAGAGGACCA.GGCCCCATCT | novel | T/C | unknown | coding_synon | NM_005183 | CACNA1F | Gly | Gly | 1144 | GGC | 3 | N/A |
| EP_30810_171_SD3_13 | chrX | 48958854 | + | TCATTGCGTT.TTCATGATGA | novel | C/G | unknown | coding_synon | NM_005183 | CACNA1F | Ile | Ile | 1121 | ATC | 3 | N/A |
| EP_30810_47_SD3_13 | chrX | 48958730 | + | CTCTACCCCC.CTCTGGCTCC | novel | C/G | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30811_245_SD3_13 | chrX | 48958670 | + | GCCTGACCCC.GCCAGACTCC | novel | C/T | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30811_265_SD3_13 | chrX | 48958690 | + | CTGACCCTAT.ATCTCCACAT | novel | T/G | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30811_45_SD3_13 | chrX | 48958470 | + | CTCACTCATG.CCTGCCCTGG | novel | C/T | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30813_102_SD3_13 | chrX | 48957262 | + | CACGTTTGAC.CTCTTATTGT | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Ala | Thr | 1259 | GCT | 1 | N/A |
| EP_30814_126_SD3_13 | chrX | 48956441 | + | CTTCTTTTCC.ATGTCCCTCT | novel | C/T | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30814_68_SD3_13 | chrX | 48956383 | + | CCTCCAGAAT.GTGGCCACCT | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Gly | Ser | 1277 | GGT | 1 | N/A |
| EP_30816_121_SD3_13 | chrX | 48955705 | + | ATGCCGTCAT.GGCATGCAGG | novel | T/C | unknown | coding_synon | NM_005183 | CACNA1F | Ile | Ile | 1344 | ATT | 3 | N/A |
| EP_30816_130_SD3_13 | chrX | 48955714 | + | TTGGCATGCA.GCAAGTGGGG | novel | T/G | unknown | splice_site | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30816_48_SD3_13 | chrX | 48955632 | + | CTCTGCCCCC.TCCCCCATCC | novel | C/- | unknown | intron | NM_005183 | CACNA1F | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30819_188_SD3_13 | chrX | 48954494 | + | ACCCTGGGGC.AAGTATGCCC | novel | C/A | unknown | coding_synon | NM_005183 | CACNA1F | Ala | Ala | 1473 | GCC | 3 | N/A |
| EP_30823_149_SD3_13 | chrX | 48953119 | + | CAAATTCCGG.GGAGGAAAGA | novel | C/T | unknown | coding_nonsynon | NM_005183 | CACNA1F | Arg | Trp | 1598 | CGG | 1 | N/A |
| EP_30825_169_SD3_13 | chrX | 48952025 | + | CTCTCCTTTG.GCCCAGTGAT | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Gly | Trp | 1684 | GGG | 1 | N/A |
| EP_30828_125_SD3_13 | chrX | 48949978 | + | GGATTTACCC.TCCCAGGCAC | novel | A/C | unknown | coding_synon | NM_005183 | CACNA1F | Glu | Glu | 1815 | GAG | 1 | N/A |
| EP_30830_148_SD3_13 | chrX | 48948618 | + | GATGCGTGTC.CCTGACGCTG | novel | G/A | unknown | coding_nonsynon | NM_005183 | CACNA1F | Arg | His | 1930 | CGC | 2 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198397 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_018896 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198376 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198377 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198378 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198379 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198380 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198382 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198383 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198384 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198385 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198386 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198387 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198388 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_129_SD3_13 | chr17 | 45993880 | + | GAGCTTCATG.GGCTCAACGA | novel | C/T | unknown | coding_nonsynon | NM_198396 | CACNA1G | Arg | Trp | 21 | CGG | 1 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198397 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_018896 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198376 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198377 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198378 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198379 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198380 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198382 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198383 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198384 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198385 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198386 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198387 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198388 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_140_SD3_13 | chr17 | 45993891 | + | GGCTCAACGA.CTGTCGGGGG | novel | C/G | unknown | coding_nonsynon | NM_198396 | CACNA1G | Asp | Glu | 24 | GAC | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198397 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_018896 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198376 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198377 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198378 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198379 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198380 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198382 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198383 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198384 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198385 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198386 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198387 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198388 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30833_221_SD3_13 | chr17 | 45993972 | + | CGGAGGGGCT.CCGTACCCGG | novel | G/A | unknown | coding_synon | NM_198396 | CACNA1G | Leu | Leu | 51 | CTG | 3 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198397 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_018896 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198376 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198377 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198378 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198379 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198380 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198382 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198383 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198384 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198385 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198386 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198387 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198388 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30834_122_SD3_13 | chr17 | 46001273 | + | TCTCAACTGC.TGACCCTGGG | novel | A/G | unknown | coding_nonsynon | NM_198396 | CACNA1G | Val | Met | 96 | GTG | 1 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198397 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_018896 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198376 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198377 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198378 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198379 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198380 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198382 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198383 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198384 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198385 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198386 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198387 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198388 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30836_120_SD3_13 | chr17 | 46002123 | + | TCAGGACAGT.CGTGTGCTGC | novel | C/T | unknown | coding_synon | NM_198396 | CACNA1G | Val | Val | 182 | GTC | 3 | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30837_31_SD3_13 | chr17 | 46004162 | + | GGGCCCCTCC.GGAGTGCTGC | novel | G/A | unknown | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198397 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_018896 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198376 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198377 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198378 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198379 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198380 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198382 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198383 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198384 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198385 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198386 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198387 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198388 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_225_SD3_13 | chr17 | 46005062 | + | CCCACCTTGC.GTCTGGACTA | novel | G/A | unknown | coding_nonsynon | NM_198396 | CACNA1G | Gly | Ser | 299 | GGT | 1 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198397 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_018896 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198376 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198377 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198378 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198379 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198380 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198382 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198383 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198384 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198385 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198386 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198387 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198388 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_245_SD3_13 | chr17 | 46005082 | + | ATGAGGCCTA.AACAGCTCCA | novel | C/T | unknown | coding_synon | NM_198396 | CACNA1G | Tyr | Tyr | 305 | TAC | 3 | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30838_417_SD3_13 | chr17 | 46005254 | + | CCAGAACACC.GCCCCAGGAC | novel | A/T | unknown | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198397 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_018896 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198376 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198377 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198378 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198379 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198380 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198382 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198383 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198384 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198385 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198386 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198387 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198388 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_267_SD3_13 | chr17 | 46008107 | + | TAAGGCAGCC.GCAGGCTGGC | novel | C/T | unknown | coding_nonsynon | NM_198396 | CACNA1G | Arg | Cys | 449 | CGC | 1 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198397 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_018896 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198376 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198377 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198378 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198379 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198380 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198382 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198383 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198384 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198385 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198386 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198387 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198388 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_289_SD3_13 | chr17 | 46008129 | + | CAGGTCTCTC.GGCAGCAGGT | novel | G/A | unknown | coding_nonsynon | NM_198396 | CACNA1G | Arg | Gln | 456 | CGG | 2 | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_34_SD3_13 | chr17 | 46007874 | + | TCTTCAGGAC.TTTCCTCTTC | rs198550 | G/A | by-frequency_by-2hit-2allele | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198397 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_018896 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198376 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198377 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198378 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198379 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198380 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198382 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198383 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198384 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198385 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198386 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198387 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198388 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_386_SD3_13 | chr17 | 46008226 | + | CCCACCGCCG.CTATCCGTCC | novel | C/T | unknown | coding_synon | NM_198396 | CACNA1G | Arg | Arg | 488 | CGC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198397 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_018896 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198376 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198377 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198378 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198379 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198380 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198382 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198383 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198384 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198385 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198386 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198387 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198388 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_401_SD3_13 | chr17 | 46008241 | + | CCGTCCACCA.CTGGTGCACC | rs9897406 | C/T | by-frequency | coding_synon | NM_198396 | CACNA1G | His | His | 493 | CAC | 3 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198397 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_018896 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198376 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198377 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198378 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198379 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198380 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198382 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198383 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198384 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198385 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198386 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198387 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198388 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30840_478_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | T/C | unknown | coding_nonsynon | NM_198396 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198397 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_018896 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198376 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198377 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198378 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198379 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198380 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198382 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198383 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198384 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198385 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198386 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198387 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198388 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_113_SD3_13 | chr17 | 46008351 | + | AATGGGTCCC.CCGGCTCATG | rs7222276 | G/A | unknown | coding_nonsynon | NM_198396 | CACNA1G | Arg | His | 530 | CGC | 2 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198397 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_018896 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198376 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198377 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198378 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198379 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198380 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198382 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198383 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198384 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198385 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198386 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198387 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198388 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_115_SD3_13 | chr17 | 46008353 | + | TGGGTCCCGC.GGCTCATGCT | rs12449998 | C/A | by-cluster_by-frequency | coding_synon | NM_198396 | CACNA1G | Arg | Arg | 531 | CGG | 1 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198397 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_018896 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198376 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198377 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198378 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198379 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198380 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198382 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198383 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198384 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198385 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198386 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198387 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198388 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_146_SD3_13 | chr17 | 46008384 | + | TCGACGCCTG.CCTCTCCGGG | novel | C/T | unknown | coding_nonsynon | NM_198396 | CACNA1G | Ala | Val | 541 | GCC | 2 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198397 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_018896 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198376 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198377 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198378 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198379 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198380 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198382 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198383 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198384 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198385 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198386 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198387 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198388 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_223_SD3_13 | chr17 | 46008461 | + | AGAGCCAGTC.GCTGCCAGGC | novel | C/T | unknown | coding_nonsynon | NM_198396 | CACNA1G | Arg | Cys | 567 | CGC | 1 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198397 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_018896 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198376 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198377 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198378 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198379 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198380 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198382 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198383 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198384 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198385 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198386 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198387 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198388 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_294_SD3_13 | chr17 | 46008532 | + | GGAAGGTGTA.CCCACCGTGC | novel | T/C | unknown | coding_synon | NM_198396 | CACNA1G | Tyr | Tyr | 590 | TAT | 3 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198397 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_018896 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198376 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198377 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198378 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198379 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198380 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198382 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198383 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198384 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198385 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198386 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198387 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198388 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_311_SD3_13 | chr17 | 46008549 | + | GTGCACACCA.CCCTCCACCG | novel | G/C | unknown | coding_nonsynon | NM_198396 | CACNA1G | Ser | Thr | 596 | AGC | 2 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198397 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_018896 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198376 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198377 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198378 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198379 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198380 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198382 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198383 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198384 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198385 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198386 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198387 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198388 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_363_SD3_13 | chr17 | 46008601 | + | TGGCTGCCAG.TCTGGGCCCC | novel | C/T | unknown | coding_synon | NM_198396 | CACNA1G | Ser | Ser | 613 | AGC | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198397 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_018896 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198376 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198377 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198378 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198379 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198380 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198382 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198383 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198384 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198385 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198386 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198387 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198388 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_441_SD3_13 | chr17 | 46008679 | + | TGGAGACACA.AGTACAGGTG | novel | G/A | unknown | coding_synon | NM_198396 | CACNA1G | Gln | Gln | 639 | CAG | 3 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198397 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_018896 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198376 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198377 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198378 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198379 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198380 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198382 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198383 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198384 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198385 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198386 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198387 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198388 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30841_80_SD3_13 | chr17 | 46008318 | + | CGGGCCAGCC.GGAGATCCAG | novel | C/T | unknown | coding_nonsynon | NM_198396 | CACNA1G | Pro | Leu | 519 | CCG | 2 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198397 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_018896 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198376 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198377 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198378 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198379 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198380 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198382 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198383 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198384 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198385 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198386 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198387 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198388 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_185_SD3_13 | chr17 | 46010664 | + | GGTGGAGCTC.CCGACCGTGA | novel | G/A | unknown | coding_nonsynon | NM_198396 | CACNA1G | Ala | Thr | 681 | GCC | 1 | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_29_SD3_13 | chr17 | 46010508 | + | GCCCCAGGTA.GAGACTCTGG | novel | C/T | unknown | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198397 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_018896 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198376 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198377 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198378 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198379 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198380 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198382 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198383 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198384 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198385 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198386 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198387 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198388 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_354_SD3_13 | chr17 | 46010833 | + | GACACCTTCC.AAAGATTGTG | novel | A/G | unknown | coding_nonsynon | NM_198396 | CACNA1G | Arg | Gln | 737 | CGA | 2 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198397 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_018896 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198376 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198377 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198378 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198379 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198380 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198382 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198383 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198384 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198385 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198386 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198387 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198388 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_355_SD3_13 | chr17 | 46010834 | + | ACACCTTCCG.AAGATTGTGG | novel | A/T | unknown | coding_synon | NM_198396 | CACNA1G | Arg | Arg | 737 | CGA | 3 | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_59_SD3_13 | chr17 | 46010538 | + | CCTCTACTCT.CTGTTCCAGG | novel | C/T | unknown | splice_region | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198397 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_018896 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198376 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198377 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198378 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198379 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198380 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198382 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198383 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198384 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198385 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198386 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198387 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198388 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_82_SD3_13 | chr17 | 46010561 | + | CCTGCCAAAG.TCTTGCAAGA | novel | C/T | unknown | coding_synon | NM_198396 | CACNA1G | Ser | Ser | 646 | AGC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198397 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_018896 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198376 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198377 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198378 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198379 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198380 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198382 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198383 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198384 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198385 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198386 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198387 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198388 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30842_97_SD3_13 | chr17 | 46010576 | + | GCAAGATCTC.AGCCCTTGCT | novel | C/T | unknown | coding_synon | NM_198396 | CACNA1G | Ser | Ser | 651 | TCC | 3 | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_224_SD3_13 | chr17 | 46022992 | + | GGTATGACTA.CCCCCGGCAC | novel | T/C | unknown | splice_region | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_244_SD3_13 | chr17 | 46023012 | + | CTGACTCTCA.TTGAGGAATG | rs8064333 | G/C | by-frequency_by-2hit-2allele | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_253_SD3_13 | chr17 | 46023021 | + | AGTTGAGGAA.GGTAGCAGGG | novel | T/- | unknown | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198397 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_018896 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198376 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198377 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198378 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198379 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198380 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198382 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198383 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198384 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198385 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198386 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198387 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198388 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30843_87_SD3_13 | chr17 | 46022855 | + | CAACGCCCTA.AAATCAGCAA | novel | G/T | unknown | coding_nonsynon | NM_198396 | CACNA1G | Glu | STP | 776 | GAA | 1 | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_256_SD3_13 | chr17 | 46023982 | + | CATCTTCAGG.GAGGGCGGCA | novel | T/A | unknown | splice_site | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30844_299_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | T/C | by-2hit-2allele | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30845_29_SD3_13 | chr17 | 46024025 | + | CCGGCCAGGC.GGGGGCAGGA | rs11079918 | C/T | by-2hit-2allele | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198397 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_018896 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198376 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198377 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198378 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198379 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198380 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198382 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198383 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198384 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198385 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198386 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198387 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198388 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_227_SD3_13 | chr17 | 46024449 | + | GCTTCCAGGC.GAGGTAACCC | novel | G/A | unknown | coding_synon | NM_198396 | CACNA1G | Ala | Ala | 969 | GCG | 3 | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30846_74_SD3_13 | chr17 | 46024296 | + | TCTGCCCGCA.ATCCTGACCC | novel | G/A | unknown | splice_site | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_198397 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_018896 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198376 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198377 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_198378 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198379 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_198380 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198382 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198383 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_198384 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_198385 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | coding_synon | NM_198386 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198387 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198388 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30847_110_SD3_13 | chr17 | 46027400 | + | GCTGTATTCA.CTGCCTGTCG | novel | G/A | unknown | intron | NM_198396 | CACNA1G | Gln | Gln | 986 | CAG | 3 | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_169_SD3_13 | chr17 | 46029028 | + | TCCTGGGGTG.GACTTTTGGC | novel | C/A | unknown | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198397 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_018896 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198376 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198377 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198378 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198379 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198380 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198382 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198383 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198384 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198385 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198386 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198387 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198388 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_21_SD3_13 | chr17 | 46028880 | + | AACCACCCAA.CCTGGCCGGA | novel | G/A | unknown | intron | NM_198396 | CACNA1G | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30848_40_SD3_13 | chr17 | 46028899 | + | GATCCCTAAT.GTCCGCTGCT | novel | G/T | unknown | intron | NM_198397 | CACNA1G | N/A | N/A |