Item | Value |
---|---|
geneid | 779 |
ensemblid | ENSG00000081248.12 |
hgncid | 1397 |
symbol | CACNA1S |
name | calcium voltage-gated channel subunit alpha1 S |
refseq_nuc | NM_000069.3 |
refseq_prot | NP_000060.2 |
ensembl_nuc | ENST00000362061.4 |
ensembl_prot | ENSP00000355192.3 |
mane_status | MANE Select |
chr | chr1 |
start | 201039512 |
end | 201112426 |
strand | - |
ver | v1.2 |
region | chr1:201039512-201112426 |
region5000 | chr1:201034512-201117426 |
regionname0 | CACNA1S_chr1_201039512_201112426 |
regionname5000 | CACNA1S_chr1_201034512_201117426 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 1873 | 182 | 31 | 43 | 85 | 3 | 19 | 59 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0002 | 0/0 | 1873 | 36 | 20 | 4 | 10 | 0 | 2 | 7 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0003 | 0/1 | 1873 | 22 | 0 | 4 | 5 | 4 | 8 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0004 | 0/0 | 1873 | 14 | 2 | 9 | 0 | 2 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0005 | 0/0 | 1873 | 11 | 11 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0006 | 0/0 | 1873 | 5 | 2 | 0 | 1 | 1 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0007 | 0/0 | 1873 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0008 | 0/0 | 1873 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0009 | 0/0 | 1873 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0010 | 0/0 | 1873 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0011 | 0/0 | 1873 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0012 | 0/0 | 1873 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0013 | 0/0 | 1873 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0014 | 0/0 | 1873 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0015 | 0/0 | 1873 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0016 | 0/0 | 1873 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0017 | 0/0 | 1873 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0018 | 0/0 | 1873 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0019 | 0/0 | 1873 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0020 | 0/0 | 1873 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0021 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0022 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0023 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0024 | 0/0 | 1873 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0025 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0026 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0027 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0028 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0029 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0030 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0031 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0032 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0033 | 0/0 | 16 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(11): Show |
chr1 | 201034512 | 201117426 |
a0034 | 0/0 | 1873 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0035 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
a0036 | 0/0 | 1873 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | MEPSS others(1868): Show |
chr1 | 201034512 | 201117426 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 5619 | 58 | 2 | 16 | 30 | 1 | 8 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0002 | 0/0 | 5619 | 20 | 0 | 5 | 10 | 0 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0003 | 0/0 | 5619 | 20 | 0 | 6 | 14 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0004 | 0/0 | 5619 | 16 | 6 | 5 | 3 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0007 | 0/0 | 5619 | 10 | 0 | 0 | 10 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0009 | 0/0 | 5619 | 8 | 7 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0011 | 0/0 | 5619 | 7 | 3 | 3 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0013 | 0/0 | 5619 | 5 | 0 | 4 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0014 | 0/0 | 5619 | 4 | 3 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0016 | 0/0 | 5619 | 4 | 0 | 0 | 4 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0017 | 0/0 | 5619 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0021 | 0/0 | 5619 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0025 | 0/0 | 5619 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0026 | 0/0 | 5619 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0029 | 0/0 | 5619 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0030 | 0/0 | 5619 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0031 | 0/0 | 5619 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0033 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0038 | 0/0 | 5619 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0050 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0051 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0063 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0070 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0073 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0079 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0083 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0084 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0001c0090 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0008 | 0/0 | 5619 | 9 | 8 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0010 | 0/0 | 5619 | 7 | 0 | 0 | 5 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0012 | 0/0 | 5619 | 5 | 4 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0020 | 0/0 | 5619 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0023 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0045 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0047 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0048 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0058 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0064 | 0/0 | 5619 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0067 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0072 | 0/0 | 5619 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0074 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0075 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0002c0089 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0003c0005 | 0/1 | 5619 | 14 | 0 | 3 | 3 | 2 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0003c0015 | 0/0 | 5619 | 4 | 0 | 0 | 1 | 0 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0003c0056 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0003c0057 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0003c0082 | 0/0 | 5619 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0003c0086 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0004c0006 | 0/0 | 5619 | 13 | 2 | 8 | 0 | 2 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0004c0043 | 0/0 | 5619 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0022 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0024 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0044 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0046 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0049 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0052 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0054 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0078 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0005c0094 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0006c0055 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0006c0066 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0006c0071 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0006c0085 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0006c0088 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0007c0036 | 0/0 | 5619 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0007c0081 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0008c0018 | 0/0 | 5619 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0009c0019 | 0/0 | 5619 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0010c0039 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0010c0077 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0011c0035 | 0/0 | 5619 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0012c0037 | 0/0 | 5619 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0013c0034 | 0/0 | 5619 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0014c0032 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0015c0027 | 0/0 | 5619 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0016c0028 | 0/0 | 5619 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0017c0080 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0018c0076 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0019c0097 | 0/0 | 5619 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0020c0087 | 0/0 | 5619 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0021c0096 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0022c0095 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0023c0093 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0024c0065 | 0/0 | 5619 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0025c0061 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0026c0060 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0027c0042 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0028c0092 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0029c0062 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0030c0053 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0031c0041 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0032c0068 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0033c0040 | 0/0 | 5605 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5600): Show |
chr1 | 201034512 | 201117426 | ||
a0034c0091 | 0/0 | 5619 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0035c0059 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 | ||
a0036c0069 | 0/0 | 5619 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | ATGGA others(5614): Show |
chr1 | 201034512 | 201117426 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 6028 | 57 | 2 | 16 | 30 | 1 | 7 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0001t0002 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0002t0001 | 0/0 | 6028 | 20 | 0 | 5 | 10 | 0 | 5 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0003t0001 | 0/0 | 6028 | 18 | 0 | 6 | 12 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0003t0002 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0004t0001 | 0/0 | 6028 | 16 | 6 | 5 | 3 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0007t0001 | 0/0 | 6028 | 9 | 0 | 0 | 9 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0007t0002 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0009t0001 | 0/0 | 6028 | 8 | 7 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0011t0001 | 0/0 | 6028 | 7 | 3 | 3 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0013t0001 | 0/0 | 6028 | 5 | 0 | 4 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0014t0001 | 0/0 | 6028 | 4 | 3 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0016t0001 | 0/0 | 6028 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0016t0002 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0017t0001 | 0/0 | 6028 | 4 | 4 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0021t0001 | 0/0 | 6028 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0025t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0026t0001 | 0/0 | 6028 | 2 | 0 | 1 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0029t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0030t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0031t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0033t0001 | 0/0 | 6028 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0038t0001 | 0/0 | 6028 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0050t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0051t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0063t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0070t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0073t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0079t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0083t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0084t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0001c0090t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0008t0001 | 0/0 | 6028 | 9 | 8 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0010t0001 | 0/0 | 6028 | 7 | 0 | 0 | 5 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0012t0001 | 0/0 | 6028 | 5 | 4 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0020t0001 | 0/0 | 6028 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0023t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0023t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0045t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0047t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0048t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0058t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0064t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0067t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0072t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0074t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0075t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0002c0089t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0005t0001 | 0/1 | 6028 | 13 | 0 | 3 | 3 | 2 | 4 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0005t0002 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0015t0001 | 0/0 | 6028 | 4 | 0 | 0 | 1 | 0 | 3 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0056t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0057t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0082t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0003c0086t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0004c0006t0001 | 0/0 | 6028 | 13 | 2 | 8 | 0 | 2 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0004c0043t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0022t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0022t0003 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0024t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0024t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0044t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0046t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0049t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0052t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0054t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0078t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0005c0094t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0006c0055t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0006c0066t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0006c0071t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0006c0085t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0006c0088t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0007c0036t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0007c0081t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0008c0018t0001 | 0/0 | 6028 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0009c0019t0001 | 0/0 | 6028 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0010c0039t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0010c0039t0002 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCT others(6023): Show |
chr1 | 201034512 | 201117426 |
a0010c0077t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0011c0035t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0012c0037t0001 | 0/0 | 6028 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0013c0034t0001 | 0/0 | 6028 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0014c0032t0001 | 0/0 | 6028 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0015c0027t0001 | 0/0 | 6028 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0016c0028t0001 | 0/0 | 6028 | 2 | 0 | 0 | 0 | 0 | 2 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0017c0080t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0018c0076t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0019c0097t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0020c0087t0001 | 0/0 | 6028 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0021c0096t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0022c0095t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0023c0093t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0024c0065t0001 | 0/0 | 6028 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0025c0061t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0026c0060t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0027c0042t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0028c0092t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0029c0062t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0030c0053t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0031c0041t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0032c0068t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0033c0040t0001 | 0/0 | 6014 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6009): Show |
chr1 | 201034512 | 201117426 |
a0034c0091t0001 | 0/0 | 6028 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0035c0059t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
a0036c0069t0001 | 0/0 | 6028 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | AGTCC others(6023): Show |
chr1 | 201034512 | 201117426 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0043 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0001t0002g0303 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0271 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0002t0001g0276 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0001g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0002g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0003t0002g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0004t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0007t0002g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0009t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0011t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0292 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0013t0001g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0014t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0016t0002g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0017t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0021t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0021t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0021t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0025t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0025t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0026t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0026t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0029t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0029t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0030t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0030t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0031t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0031t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0033t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0033t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0038t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0038t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0050t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0051t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0063t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0070t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0073t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0079t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0083t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0084t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0001c0090t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0008t0001g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0010t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0012t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0020t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0020t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0020t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0023t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0023t0002g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0045t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0047t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0048t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0058t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0064t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0067t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0072t0001g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0074t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0075t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0002c0089t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0093 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0005t0002g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0015t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0056t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0057t0001g0290 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0082t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0003c0086t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0006t0001g0294 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0004c0043t0001g0287 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0022t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0022t0003g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0024t0001g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0024t0002g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0044t0001g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0046t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0049t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0052t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0054t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0078t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0005c0094t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0055t0001g0289 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0066t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0071t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0085t0002g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0006c0088t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0007c0036t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0007c0036t0001g0286 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0007c0081t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0008c0018t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0008c0018t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0008c0018t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0009c0019t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0009c0019t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0009c0019t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0010c0039t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0010c0039t0002g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0010c0077t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0011c0035t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0012c0037t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0012c0037t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0013c0034t0001g0002 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0014c0032t0001g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0014c0032t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0015c0027t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0015c0027t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0016c0028t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0016c0028t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0017c0080t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0018c0076t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0019c0097t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0020c0087t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0021c0096t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0022c0095t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0023c0093t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0024c0065t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0025c0061t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0026c0060t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0027c0042t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0028c0092t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0029c0062t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0030c0053t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0031c0041t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0032c0068t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0033c0040t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0034c0091t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0035c0059t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
a0036c0069t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0090 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00099 | hp2 | a0003 | c0005 | t0001 | g0095 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00140 | hp1 | a0017 | c0080 | t0001 | g0075 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00140 | hp2 | a0004 | c0006 | t0001 | g0089 | EUR | GBR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00280 | hp1 | a0018 | c0076 | t0001 | g0087 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00280 | hp2 | a0003 | c0086 | t0001 | g0094 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00323 | hp1 | a0003 | c0057 | t0001 | g0290 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00323 | hp2 | a0001 | c0063 | t0001 | g0193 | EUR | FIN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00408 | hp2 | a0001 | c0030 | t0001 | g0171 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00438 | hp1 | a0002 | c0067 | t0001 | g0197 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0270 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00544 | hp1 | a0001 | c0029 | t0001 | g0273 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00544 | hp2 | a0001 | c0021 | t0001 | g0170 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00558 | hp1 | a0002 | c0010 | t0001 | g0099 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00558 | hp2 | a0006 | c0088 | t0001 | g0237 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00597 | hp1 | a0001 | c0003 | t0001 | g0144 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0151 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00621 | hp1 | a0003 | c0015 | t0001 | g0078 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00621 | hp2 | a0002 | c0020 | t0001 | g0139 | EAS | CHS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00639 | hp1 | a0019 | c0097 | t0001 | g0036 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00735 | hp1 | a0003 | c0005 | t0001 | g0110 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00738 | hp1 | a0001 | c0025 | t0001 | g0076 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG00738 | hp2 | a0004 | c0006 | t0001 | g0074 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01069 | hp1 | a0001 | c0011 | t0001 | g0085 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01069 | hp2 | a0004 | c0006 | t0001 | g0100 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01070 | hp1 | a0011 | c0035 | t0001 | g0005 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01070 | hp2 | a0002 | c0008 | t0001 | g0038 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01071 | hp1 | a0001 | c0011 | t0001 | g0084 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01071 | hp2 | a0011 | c0035 | t0001 | g0005 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01074 | hp1 | a0004 | c0006 | t0001 | g0067 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01074 | hp2 | a0002 | c0064 | t0001 | g0238 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01081 | hp1 | a0001 | c0013 | t0001 | g0291 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01081 | hp2 | a0001 | c0002 | t0001 | g0051 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01106 | hp2 | a0007 | c0036 | t0001 | g0286 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0241 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01109 | hp2 | a0002 | c0072 | t0001 | g0265 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01167 | hp1 | a0004 | c0006 | t0001 | g0294 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01167 | hp2 | a0001 | c0003 | t0001 | g0006 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01168 | hp1 | a0001 | c0004 | t0001 | g0157 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01168 | hp2 | a0004 | c0006 | t0001 | g0026 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01169 | hp1 | a0001 | c0003 | t0001 | g0006 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01169 | hp2 | a0004 | c0006 | t0001 | g0024 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01175 | hp1 | a0020 | c0087 | t0001 | g0019 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01175 | hp2 | a0001 | c0003 | t0001 | g0072 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01243 | hp1 | a0001 | c0009 | t0001 | g0262 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0088 | AMR | PUR | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01255 | hp1 | a0001 | c0002 | t0001 | g0124 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0055 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01256 | hp1 | a0001 | c0013 | t0001 | g0295 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01258 | hp1 | a0001 | c0013 | t0001 | g0007 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01261 | hp1 | a0004 | c0006 | t0001 | g0022 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01261 | hp2 | a0001 | c0004 | t0001 | g0029 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01346 | hp1 | a0004 | c0043 | t0001 | g0287 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01361 | hp1 | a0001 | c0004 | t0001 | g0068 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01361 | hp2 | a0012 | c0037 | t0001 | g0229 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01433 | hp1 | a0004 | c0006 | t0001 | g0192 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01433 | hp2 | a0003 | c0005 | t0001 | g0161 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01496 | hp1 | a0001 | c0003 | t0001 | g0143 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01496 | hp2 | a0001 | c0002 | t0001 | g0003 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01516 | hp1 | a0013 | c0034 | t0001 | g0002 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01516 | hp2 | a0001 | c0026 | t0001 | g0065 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01517 | hp1 | a0006 | c0055 | t0001 | g0289 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01517 | hp2 | a0013 | c0034 | t0001 | g0002 | EUR | IBS | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01884 | hp1 | a0001 | c0014 | t0001 | g0252 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01884 | hp2 | a0002 | c0089 | t0001 | g0054 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01891 | hp1 | a0002 | c0012 | t0001 | g0256 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01891 | hp2 | a0002 | c0008 | t0001 | g0041 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01928 | hp1 | a0001 | c0004 | t0001 | g0071 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0128 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01934 | hp2 | a0001 | c0003 | t0001 | g0288 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01952 | hp1 | a0001 | c0026 | t0001 | g0027 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01952 | hp2 | a0001 | c0002 | t0001 | g0028 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01978 | hp1 | a0001 | c0003 | t0001 | g0125 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01978 | hp2 | a0001 | c0011 | t0001 | g0169 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01981 | hp1 | a0001 | c0004 | t0001 | g0158 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0069 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01993 | hp2 | a0002 | c0012 | t0001 | g0194 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02004 | hp1 | a0001 | c0002 | t0001 | g0003 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02004 | hp2 | a0012 | c0037 | t0001 | g0086 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02015 | hp1 | a0001 | c0002 | t0001 | g0214 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02015 | hp2 | a0001 | c0007 | t0001 | g0111 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02040 | hp1 | a0001 | c0016 | t0002 | g0301 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02040 | hp2 | a0001 | c0030 | t0001 | g0200 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02055 | hp1 | a0008 | c0018 | t0001 | g0189 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02055 | hp2 | a0006 | c0085 | t0002 | g0298 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02056 | hp1 | a0001 | c0021 | t0001 | g0207 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02056 | hp2 | a0001 | c0007 | t0001 | g0216 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02074 | hp2 | a0001 | c0031 | t0001 | g0048 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02080 | hp1 | a0001 | c0002 | t0001 | g0104 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02080 | hp2 | a0001 | c0002 | t0001 | g0178 | EAS | KHV | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02145 | hp1 | a0008 | c0018 | t0001 | g0174 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02145 | hp2 | a0002 | c0012 | t0001 | g0261 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02148 | hp1 | a0003 | c0082 | t0001 | g0122 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02148 | hp2 | a0001 | c0025 | t0001 | g0236 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02165 | hp1 | a0001 | c0031 | t0001 | g0209 | EAS | CDX | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02165 | hp2 | a0003 | c0005 | t0001 | g0280 | EAS | CDX | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02257 | hp1 | a0021 | c0096 | t0001 | g0037 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02257 | hp2 | a0002 | c0058 | t0001 | g0103 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02258 | hp2 | a0022 | c0095 | t0001 | g0235 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02273 | hp2 | a0003 | c0005 | t0001 | g0131 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02280 | hp1 | a0002 | c0008 | t0001 | g0221 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0150 | AMR | PEL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02451 | hp1 | a0001 | c0009 | t0001 | g0001 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02451 | hp2 | a0002 | c0047 | t0001 | g0187 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02615 | hp1 | a0004 | c0006 | t0001 | g0106 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02615 | hp2 | a0005 | c0046 | t0001 | g0255 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02630 | hp1 | a0005 | c0044 | t0001 | g0285 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02630 | hp2 | a0005 | c0024 | t0001 | g0257 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02647 | hp1 | a0007 | c0081 | t0001 | g0023 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02647 | hp2 | a0023 | c0093 | t0001 | g0246 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02698 | hp1 | a0003 | c0015 | t0001 | g0061 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0230 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02717 | hp1 | a0002 | c0012 | t0001 | g0269 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02717 | hp2 | a0001 | c0004 | t0001 | g0123 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02723 | hp1 | a0002 | c0008 | t0001 | g0274 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02723 | hp2 | a0001 | c0017 | t0001 | g0052 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02735 | hp1 | a0024 | c0065 | t0001 | g0113 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02735 | hp2 | a0003 | c0005 | t0001 | g0191 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02738 | hp1 | a0001 | c0004 | t0001 | g0025 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02738 | hp2 | a0004 | c0006 | t0001 | g0205 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02809 | hp1 | a0009 | c0019 | t0001 | g0188 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02809 | hp2 | a0002 | c0008 | t0001 | g0250 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02818 | hp1 | a0002 | c0012 | t0001 | g0245 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02818 | hp2 | a0001 | c0050 | t0001 | g0233 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02886 | hp1 | a0009 | c0019 | t0001 | g0164 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02886 | hp2 | a0010 | c0039 | t0002 | g0297 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02895 | hp1 | a0005 | c0024 | t0002 | g0300 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02895 | hp2 | a0014 | c0032 | t0001 | g0267 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02896 | hp1 | a0015 | c0027 | t0001 | g0181 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02896 | hp2 | a0001 | c0017 | t0001 | g0047 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02897 | hp1 | a0015 | c0027 | t0001 | g0182 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02897 | hp2 | a0014 | c0032 | t0001 | g0266 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02922 | hp1 | a0001 | c0017 | t0001 | g0223 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02922 | hp2 | a0001 | c0073 | t0001 | g0046 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02965 | hp1 | a0001 | c0004 | t0001 | g0040 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02965 | hp2 | a0002 | c0074 | t0001 | g0249 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02970 | hp1 | a0001 | c0009 | t0001 | g0001 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02970 | hp2 | a0002 | c0008 | t0001 | g0013 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02976 | hp1 | a0010 | c0039 | t0001 | g0045 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02976 | hp2 | a0002 | c0008 | t0001 | g0218 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03041 | hp1 | a0009 | c0019 | t0001 | g0253 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03041 | hp2 | a0005 | c0052 | t0001 | g0185 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03098 | hp1 | a0005 | c0022 | t0001 | g0260 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03098 | hp2 | a0002 | c0045 | t0001 | g0219 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03139 | hp1 | a0001 | c0014 | t0001 | g0011 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03139 | hp2 | a0002 | c0008 | t0001 | g0042 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03195 | hp1 | a0001 | c0011 | t0001 | g0014 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03195 | hp2 | a0005 | c0049 | t0001 | g0254 | AFR | ESN | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03209 | hp1 | a0005 | c0078 | t0001 | g0226 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03209 | hp2 | a0001 | c0017 | t0001 | g0107 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03225 | hp1 | a0002 | c0023 | t0001 | g0227 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03225 | hp2 | a0005 | c0022 | t0003 | g0258 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03239 | hp1 | a0002 | c0010 | t0001 | g0102 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0239 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03453 | hp1 | a0001 | c0009 | t0001 | g0186 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03453 | hp2 | a0008 | c0018 | t0001 | g0165 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03486 | hp1 | a0005 | c0054 | t0001 | g0177 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03486 | hp2 | a0025 | c0061 | t0001 | g0190 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03540 | hp1 | a0001 | c0009 | t0001 | g0053 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03540 | hp2 | a0001 | c0079 | t0001 | g0268 | AFR | GWD | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03579 | hp1 | a0001 | c0009 | t0001 | g0259 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03579 | hp2 | a0026 | c0060 | t0001 | g0175 | AFR | MSL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03654 | hp1 | a0001 | c0013 | t0001 | g0292 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03654 | hp2 | a0003 | c0005 | t0001 | g0149 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03669 | hp1 | a0003 | c0015 | t0001 | g0118 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03669 | hp2 | a0001 | c0083 | t0001 | g0101 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03688 | hp1 | a0001 | c0002 | t0001 | g0276 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0017 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03704 | hp1 | a0006 | c0066 | t0001 | g0196 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03704 | hp2 | a0001 | c0051 | t0001 | g0064 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03710 | hp1 | a0016 | c0028 | t0001 | g0058 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03710 | hp2 | a0001 | c0014 | t0001 | g0063 | SAS | PJL | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03831 | hp1 | a0001 | c0002 | t0001 | g0077 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03831 | hp2 | a0016 | c0028 | t0001 | g0222 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03834 | hp1 | a0001 | c0002 | t0001 | g0115 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0116 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03927 | hp1 | a0003 | c0005 | t0002 | g0304 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03927 | hp2 | a0001 | c0002 | t0001 | g0271 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0098 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG03942 | hp2 | a0003 | c0005 | t0001 | g0130 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04115 | hp2 | a0001 | c0002 | t0001 | g0231 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04184 | hp1 | a0001 | c0004 | t0001 | g0018 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0167 | SAS | BEB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04228 | hp1 | a0002 | c0010 | t0001 | g0117 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG04228 | hp2 | a0003 | c0005 | t0001 | g0126 | SAS | STU | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18522 | hp1 | a0027 | c0042 | t0001 | g0009 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18522 | hp2 | a0001 | c0033 | t0001 | g0082 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18612 | hp1 | a0001 | c0007 | t0001 | g0162 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0275 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18747 | hp2 | a0001 | c0007 | t0002 | g0302 | EAS | CHB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18906 | hp1 | a0001 | c0011 | t0001 | g0016 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18906 | hp2 | a0001 | c0033 | t0001 | g0251 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18945 | hp1 | a0001 | c0090 | t0001 | g0112 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18945 | hp2 | a0001 | c0029 | t0001 | g0049 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18946 | hp1 | a0002 | c0010 | t0001 | g0225 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18946 | hp2 | a0001 | c0002 | t0001 | g0119 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18947 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18947 | hp2 | a0001 | c0011 | t0001 | g0277 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18949 | hp1 | a0028 | c0092 | t0001 | g0228 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18949 | hp2 | a0029 | c0062 | t0001 | g0243 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18950 | hp1 | a0001 | c0003 | t0001 | g0160 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18950 | hp2 | a0001 | c0007 | t0001 | g0142 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18956 | hp2 | a0030 | c0053 | t0001 | g0066 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18959 | hp2 | a0001 | c0007 | t0001 | g0062 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18960 | hp1 | a0001 | c0003 | t0001 | g0213 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18960 | hp2 | a0001 | c0002 | t0001 | g0141 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18962 | hp1 | a0001 | c0003 | t0001 | g0153 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18962 | hp2 | a0002 | c0010 | t0001 | g0034 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18967 | hp1 | a0001 | c0007 | t0001 | g0056 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18969 | hp2 | a0001 | c0007 | t0001 | g0283 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18971 | hp1 | a0001 | c0003 | t0001 | g0242 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18971 | hp2 | a0001 | c0038 | t0001 | g0096 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18981 | hp1 | a0001 | c0016 | t0001 | g0152 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18981 | hp2 | a0003 | c0005 | t0001 | g0136 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18983 | hp2 | a0002 | c0010 | t0001 | g0215 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18984 | hp1 | a0001 | c0016 | t0001 | g0199 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18984 | hp2 | a0003 | c0056 | t0001 | g0176 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18986 | hp1 | a0001 | c0004 | t0001 | g0154 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18986 | hp2 | a0001 | c0003 | t0001 | g0145 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18989 | hp1 | a0031 | c0041 | t0001 | g0044 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19003 | hp1 | a0002 | c0010 | t0001 | g0173 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19005 | hp2 | a0001 | c0038 | t0001 | g0138 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19009 | hp1 | a0032 | c0068 | t0001 | g0272 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0278 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19010 | hp1 | a0001 | c0004 | t0001 | g0208 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19010 | hp2 | a0003 | c0005 | t0001 | g0137 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19043 | hp1 | a0010 | c0077 | t0001 | g0010 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19043 | hp2 | a0001 | c0009 | t0001 | g0264 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19054 | hp1 | a0002 | c0020 | t0001 | g0134 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19054 | hp2 | a0001 | c0007 | t0001 | g0179 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19057 | hp1 | a0001 | c0003 | t0001 | g0284 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19057 | hp2 | a0002 | c0075 | t0001 | g0195 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19062 | hp1 | a0001 | c0016 | t0001 | g0129 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19062 | hp2 | a0001 | c0021 | t0001 | g0232 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19065 | hp1 | a0033 | c0040 | t0001 | g0008 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19065 | hp2 | a0001 | c0003 | t0002 | g0305 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19070 | hp1 | a0001 | c0002 | t0001 | g0148 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19070 | hp2 | a0001 | c0003 | t0002 | g0306 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19074 | hp1 | a0001 | c0003 | t0001 | g0166 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19074 | hp2 | a0002 | c0020 | t0001 | g0135 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19076 | hp1 | a0001 | c0003 | t0001 | g0210 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19076 | hp2 | a0001 | c0001 | t0001 | g0281 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19077 | hp1 | a0001 | c0007 | t0001 | g0097 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19077 | hp2 | a0001 | c0003 | t0001 | g0159 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19078 | hp1 | a0034 | c0091 | t0001 | g0033 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19078 | hp2 | a0001 | c0002 | t0001 | g0204 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19079 | hp1 | a0001 | c0003 | t0001 | g0212 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0248 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19080 | hp1 | a0001 | c0002 | t0001 | g0206 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19080 | hp2 | a0001 | c0004 | t0001 | g0108 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19081 | hp1 | a0001 | c0084 | t0001 | g0203 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19081 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19084 | hp1 | a0001 | c0003 | t0001 | g0211 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19084 | hp2 | a0001 | c0002 | t0001 | g0050 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19085 | hp2 | a0001 | c0001 | t0001 | g0279 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19086 | hp1 | a0001 | c0002 | t0001 | g0147 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19086 | hp2 | a0001 | c0001 | t0001 | g0296 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19090 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19240 | hp1 | a0001 | c0011 | t0001 | g0015 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA19240 | hp2 | a0002 | c0023 | t0002 | g0299 | AFR | YRI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20129 | hp1 | a0005 | c0094 | t0001 | g0263 | AFR | ASW | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20129 | hp2 | a0035 | c0059 | t0001 | g0083 | AFR | ASW | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20752 | hp1 | a0003 | c0005 | t0001 | g0073 | EUR | TSI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20752 | hp2 | a0004 | c0006 | t0001 | g0060 | EUR | TSI | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20905 | hp1 | a0001 | c0001 | t0002 | g0303 | SAS | GIH | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20905 | hp2 | a0003 | c0015 | t0001 | g0091 | SAS | GIH | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01123 | hp1 | a0001 | c0013 | t0001 | g0007 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG01123 | hp2 | a0007 | c0036 | t0001 | g0244 | AMR | CLM | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02109 | hp1 | a0002 | c0048 | t0001 | g0234 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02109 | hp2 | a0001 | c0014 | t0001 | g0012 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02486 | hp1 | a0001 | c0004 | t0001 | g0059 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02486 | hp2 | a0004 | c0006 | t0001 | g0293 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02559 | hp1 | a0006 | c0071 | t0001 | g0039 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG02559 | hp2 | a0002 | c0008 | t0001 | g0220 | AFR | ACB | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG06807 | hp1 | a0001 | c0009 | t0001 | g0001 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
HG06807 | hp2 | a0001 | c0004 | t0001 | g0121 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20300 | hp1 | a0001 | c0070 | t0001 | g0120 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA20300 | hp2 | a0001 | c0004 | t0001 | g0224 | AFR | USA | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA21309 | hp1 | a0001 | c0004 | t0001 | g0105 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
NA21309 | hp2 | a0036 | c0069 | t0001 | g0081 | AFR | LWK | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
homoSapiens | chm13v2 | a0003 | c0005 | t0001 | g0093 | REF | REF | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0043 | REF | REF | CACNA1S_chr1_201034512_201117426 | CACNA1S | chr1 | 201034512 | 201117426 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201039883 | C | T | 1 | a0017 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.5570G>A | p.Ser1857Asn | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 5657/6028 | 5570/5622 | 1857/1873 | chr1 | 201039883 | |||
chr1:201039922 | C | G | 1 | a0014 | 2 | HG02895.hp2 HG02897.hp2 |
missense_variant | MODERATE | c.5531G>C | p.Ser1844Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 5618/6028 | 5531/5622 | 1844/1873 | chr1 | 201039922 | |||
chr1:201040054 | A | G | 17 | a0002 a0005 a0007 others(14): Show |
70 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(67): Show |
missense_variant | MODERATE | c.5399T>C | p.Leu1800Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 5486/6028 | 5399/5622 | 1800/1873 | chr1 | 201040054 | |||
chr1:201043356 | C | T | 7 | a0005 a0006 a0008 others(4): Show |
24 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(21): Show |
missense_variant | MODERATE | c.4973G>A | p.Arg1658His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/44 | 5060/6028 | 4973/5622 | 1658/1873 | chr1 | 201043356 | |||
chr1:201047168 | G | A | 2 | a0003 a0012 |
23 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(20): Show |
missense_variant | MODERATE | c.4615C>T | p.Arg1539Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/44 | 4702/6028 | 4615/5622 | 1539/1873 | chr1 | 201047168 | |||
chr1:201050459 | A | G | 1 | a0033 | 1 | NA19065.hp1 | missense_variant | MODERATE | c.4171T>C | p.Trp1391Arg | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/44 | 4258/6028 | 4171/5622 | 1391/1873 | chr1 | 201050459 | |||
chr1:201053259 | C | T | 1 | a0010 | 3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
missense_variant | MODERATE | c.3811G>A | p.Ala1271Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/44 | 3898/6028 | 3811/5622 | 1271/1873 | chr1 | 201053259 | |||
chr1:201053493 | C | T | 1 | a0016 | 2 | HG03710.hp1 HG03831.hp2 |
missense_variant | MODERATE | c.3761G>A | p.Arg1254Gln | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/44 | 3848/6028 | 3761/5622 | 1254/1873 | chr1 | 201053493 | |||
chr1:201061398 | C | T | 1 | a0024 | 1 | HG02735.hp1 | missense_variant | MODERATE | c.3124G>A | p.Ala1042Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/44 | 3211/6028 | 3124/5622 | 1042/1873 | chr1 | 201061398 | |||
chr1:201062037 | T | C | 1 | a0032 | 1 | NA19009.hp1 | missense_variant | MODERATE | c.2960A>G | p.His987Arg | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/44 | 3047/6028 | 2960/5622 | 987/1873 | chr1 | 201062037 | |||
chr1:201065852 | C | T | 1 | a0030 | 1 | NA18956.hp2 | missense_variant | MODERATE | c.2839G>A | p.Val947Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/44 | 2926/6028 | 2839/5622 | 947/1873 | chr1 | 201065852 | |||
chr1:201069482 | A | G | 2 | a0008 a0009 |
6 | HG02055.hp1 HG02145.hp1 HG02809.hp1 others(3): Show |
missense_variant | MODERATE | c.2480T>C | p.Met827Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2567/6028 | 2480/5622 | 827/1873 | chr1 | 201069482 | |||
chr1:201069597 | G | A | 1 | a0035 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.2365C>T | p.Arg789Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2452/6028 | 2365/5622 | 789/1873 | chr1 | 201069597 | |||
chr1:201070289 | G | C | 1 | a0020 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.2343C>G | p.Ile781Met | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/44 | 2430/6028 | 2343/5622 | 781/1873 | chr1 | 201070289 | |||
chr1:201072817 | A | G | 1 | a0036 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.2165T>C | p.Ile722Thr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/44 | 2252/6028 | 2165/5622 | 722/1873 | chr1 | 201072817 | |||
chr1:201074522 | G | A | 3 | a0015 a0025 a0026 |
4 | HG02896.hp1 HG02897.hp1 HG03486.hp2 others(1): Show |
missense_variant | MODERATE | c.2047C>T | p.Arg683Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/44 | 2134/6028 | 2047/5622 | 683/1873 | chr1 | 201074522 | |||
chr1:201075507 | C | T | 1 | a0031 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.1936G>A | p.Val646Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/44 | 2023/6028 | 1936/5622 | 646/1873 | chr1 | 201075507 | |||
chr1:201077919 | G | C | 1 | a0029 | 1 | NA18949.hp2 | missense_variant | MODERATE | c.1579C>G | p.Leu527Val | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1666/6028 | 1579/5622 | 527/1873 | chr1 | 201077919 | |||
chr1:201083182 | A | T | 7 | a0004 a0007 a0011 others(4): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
missense_variant | MODERATE | c.1373T>A | p.Leu458His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/44 | 1460/6028 | 1373/5622 | 458/1873 | chr1 | 201083182 | |||
chr1:201085474 | G | A | 1 | a0018 | 1 | HG00280.hp1 | missense_variant | MODERATE | c.1112C>T | p.Thr371Met | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/44 | 1199/6028 | 1112/5622 | 371/1873 | chr1 | 201085474 | |||
chr1:201089263 | A | G | 1 | a0027 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.895T>C | p.Tyr299His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 982/6028 | 895/5622 | 299/1873 | chr1 | 201089263 | |||
chr1:201089385 | C | T | 1 | a0013 | 2 | HG01516.hp1 HG01517.hp2 |
missense_variant | MODERATE | c.773G>A | p.Gly258Asp | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 860/6028 | 773/5622 | 258/1873 | chr1 | 201089385 | |||
chr1:201089392 | T | C | 1 | a0034 | 1 | NA19078.hp1 | missense_variant | MODERATE | c.766A>G | p.Ile256Val | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 853/6028 | 766/5622 | 256/1873 | chr1 | 201089392 | |||
chr1:201092068 | T | C | 1 | a0028 | 1 | NA18949.hp1 | missense_variant | MODERATE | c.445A>G | p.Thr149Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 4/44 | 532/6028 | 445/5622 | 149/1873 | chr1 | 201092068 | |||
chr1:201093897 | G | C | 1 | a0023 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.383C>G | p.Thr128Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/44 | 470/6028 | 383/5622 | 128/1873 | chr1 | 201093897 | |||
chr1:201110216 | G | C | 3 | a0019 a0021 a0022 |
3 | HG00639.hp1 HG02257.hp1 HG02258.hp2 |
missense_variant | MODERATE | c.206C>G | p.Ala69Gly | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/44 | 293/6028 | 206/5622 | 69/1873 | chr1 | 201110216 | |||
chr1:201112283 | TGGCTTCT others(7): Show |
T | 1 | a0033 | 1 | NA19065.hp1 | frameshift_variant | HIGH | c.43_56delCAGCCCAAGA others(4): Show |
p.Gln15fs | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/44 | 143/6028 | 43/5622 | 15/1873 | chr1 | 201112283 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201043469 | G | A | 3 | a0001c0013 a0001c0025 a0004c0043 |
8 | HG00738.hp1 HG01081.hp1 HG01123.hp1 others(5): Show |
synonymous_variant | LOW | c.4860C>T | p.Pro1620Pro | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/44 | 4947/6028 | 4860/5622 | 1620/1873 | chr1 | 201043469 | |||
chr1:201044439 | A | G | 1 | a0001c0070 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.4686T>C | p.Ile1562Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/44 | 4773/6028 | 4686/5622 | 1562/1873 | chr1 | 201044439 | |||
chr1:201053248 | G | A | 10 | a0001c0007 a0001c0016 a0001c0021 others(7): Show |
27 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(24): Show |
synonymous_variant | LOW | c.3822C>T | p.Ile1274Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/44 | 3909/6028 | 3822/5622 | 1274/1873 | chr1 | 201053248 | |||
chr1:201058408 | G | A | 1 | a0005c0024 | 2 | HG02630.hp2 HG02895.hp1 |
splice_region_variant&synonymous_variant | LOW | c.3609C>T | p.Asp1203Asp | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/44 | 3696/6028 | 3609/5622 | 1203/1873 | chr1 | 201058408 | |||
chr1:201058411 | G | A | 1 | a0002c0067 | 1 | HG00438.hp1 | synonymous_variant | LOW | c.3606C>T | p.Ile1202Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/44 | 3693/6028 | 3606/5622 | 1202/1873 | chr1 | 201058411 | |||
chr1:201065943 | G | A | 9 | a0001c0007 a0001c0021 a0001c0029 others(6): Show |
22 | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(19): Show |
splice_region_variant&synonymous_variant | LOW | c.2748C>T | p.His916His | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/44 | 2835/6028 | 2748/5622 | 916/1873 | chr1 | 201065943 | |||
chr1:201066301 | G | A | 5 | a0002c0023 a0002c0048 a0002c0058 others(2): Show |
6 | HG01074.hp2 HG02109.hp1 HG02257.hp2 others(3): Show |
synonymous_variant | LOW | c.2673C>T | p.Ser891Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/44 | 2760/6028 | 2673/5622 | 891/1873 | chr1 | 201066301 | |||
chr1:201069508 | C | A | 1 | a0001c0030 | 2 | HG00408.hp2 HG02040.hp2 |
synonymous_variant | LOW | c.2454G>T | p.Ala818Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2541/6028 | 2454/5622 | 818/1873 | chr1 | 201069508 | |||
chr1:201069508 | C | T | 1 | a0001c0051 | 1 | HG03704.hp2 | synonymous_variant | LOW | c.2454G>A | p.Ala818Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2541/6028 | 2454/5622 | 818/1873 | chr1 | 201069508 | |||
chr1:201069544 | C | G | 1 | a0001c0084 | 1 | NA19081.hp1 | synonymous_variant | LOW | c.2418G>C | p.Leu806Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2505/6028 | 2418/5622 | 806/1873 | chr1 | 201069544 | |||
chr1:201069559 | A | G | 39 | a0001c0009 a0001c0013 a0001c0014 others(36): Show |
85 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(82): Show |
synonymous_variant | LOW | c.2403T>C | p.Phe801Phe | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2490/6028 | 2403/5622 | 801/1873 | chr1 | 201069559 | |||
chr1:201069577 | G | T | 1 | a0001c0084 | 1 | NA19081.hp1 | synonymous_variant | LOW | c.2385C>A | p.Ile795Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/44 | 2472/6028 | 2385/5622 | 795/1873 | chr1 | 201069577 | |||
chr1:201070373 | C | T | 1 | a0001c0063 | 1 | HG00323.hp2 | synonymous_variant | LOW | c.2259G>A | p.Pro753Pro | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/44 | 2346/6028 | 2259/5622 | 753/1873 | chr1 | 201070373 | |||
chr1:201074574 | G | A | 3 | a0002c0047 a0002c0048 a0005c0046 |
3 | HG02109.hp1 HG02451.hp2 HG02615.hp2 |
synonymous_variant | LOW | c.1995C>T | p.Ala665Ala | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/44 | 2082/6028 | 1995/5622 | 665/1873 | chr1 | 201074574 | |||
chr1:201077920 | C | G | 1 | a0029c0062 | 1 | NA18949.hp2 | synonymous_variant | LOW | c.1578G>C | p.Val526Val | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1665/6028 | 1578/5622 | 526/1873 | chr1 | 201077920 | |||
chr1:201077934 | G | A | 22 | a0001c0004 a0001c0013 a0001c0014 others(19): Show |
56 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(53): Show |
synonymous_variant | LOW | c.1564C>T | p.Leu522Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1651/6028 | 1564/5622 | 522/1873 | chr1 | 201077934 | |||
chr1:201077947 | A | G | 68 | a0001c0003 a0001c0004 a0001c0009 others(65): Show |
168 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(165): Show |
synonymous_variant | LOW | c.1551T>C | p.Gly517Gly | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1638/6028 | 1551/5622 | 517/1873 | chr1 | 201077947 | |||
chr1:201077950 | C | T | 7 | a0002c0045 a0002c0047 a0002c0048 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
synonymous_variant | LOW | c.1548G>A | p.Ser516Ser | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1635/6028 | 1548/5622 | 516/1873 | chr1 | 201077950 | |||
chr1:201077983 | A | G | 9 | a0004c0006 a0004c0043 a0007c0036 others(6): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
synonymous_variant | LOW | c.1515T>C | p.Cys505Cys | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1602/6028 | 1515/5622 | 505/1873 | chr1 | 201077983 | |||
chr1:201077992 | G | A | 1 | a0002c0074 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.1506C>T | p.Phe502Phe | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1593/6028 | 1506/5622 | 502/1873 | chr1 | 201077992 | |||
chr1:201078007 | G | A | 16 | a0001c0003 a0001c0011 a0001c0017 others(13): Show |
47 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(44): Show |
synonymous_variant | LOW | c.1491C>T | p.Asn497Asn | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1578/6028 | 1491/5622 | 497/1873 | chr1 | 201078007 | |||
chr1:201078040 | C | T | 1 | a0003c0082 | 1 | HG02148.hp1 | synonymous_variant | LOW | c.1458G>A | p.Leu486Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1545/6028 | 1458/5622 | 486/1873 | chr1 | 201078040 | |||
chr1:201078103 | G | A | 1 | a0001c0031 | 2 | HG02074.hp2 HG02165.hp1 |
splice_region_variant&synonymous_variant | LOW | c.1395C>T | p.Asp465Asp | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/44 | 1482/6028 | 1395/5622 | 465/1873 | chr1 | 201078103 | |||
chr1:201083184 | A | C | 9 | a0004c0006 a0004c0043 a0007c0036 others(6): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
synonymous_variant | LOW | c.1371T>G | p.Pro457Pro | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/44 | 1458/6028 | 1371/5622 | 457/1873 | chr1 | 201083184 | |||
chr1:201085443 | G | A | 1 | a0002c0075 | 1 | NA19057.hp2 | synonymous_variant | LOW | c.1143C>T | p.Phe381Phe | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/44 | 1230/6028 | 1143/5622 | 381/1873 | chr1 | 201085443 | |||
chr1:201089300 | G | A | 5 | a0001c0033 a0001c0079 a0005c0078 others(2): Show |
7 | HG02895.hp2 HG02897.hp2 HG03209.hp1 others(4): Show |
synonymous_variant | LOW | c.858C>T | p.Tyr286Tyr | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/44 | 945/6028 | 858/5622 | 286/1873 | chr1 | 201089300 | |||
chr1:201091737 | G | A | 26 | a0001c0002 a0001c0003 a0001c0021 others(23): Show |
98 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(95): Show |
synonymous_variant | LOW | c.597C>T | p.Ile199Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/44 | 684/6028 | 597/5622 | 199/1873 | chr1 | 201091737 | |||
chr1:201093983 | A | T | 1 | a0031c0041 | 1 | NA18989.hp1 | synonymous_variant | LOW | c.297T>A | p.Ile99Ile | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/44 | 384/6028 | 297/5622 | 99/1873 | chr1 | 201093983 | |||
chr1:201110170 | G | A | 1 | a0005c0094 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.252C>T | p.Leu84Leu | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/44 | 339/6028 | 252/5622 | 84/1873 | chr1 | 201110170 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201039521 | T | A | 1 | a0005c0022t0003 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*310A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 44/44 | 310 | chr1 | 201039521 | ||||||
chr1:201112422 | G | A | 9 | a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 others(6): Show |
10 | HG02040.hp1 HG02055.hp2 HG02886.hp2 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-83C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/44 | 83 | chr1 | 201112422 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:201040428 | A | G | 97 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0109 others(94): Show |
101 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.5227-54T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 42/43 | chr1 | 201040428 | |||||||
chr1:201040779 | G | A | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5135-66C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 41/43 | chr1 | 201040779 | |||||||
chr1:201041734 | T | C | 155 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0109 others(152): Show |
160 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.5049-145A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201041734 | |||||||
chr1:201041889 | CT | C | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5049-301delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201041889 | |||||||
chr1:201042283 | C | T | 5 | a0001c0002t0001g0050 a0001c0002t0001g0178 a0001c0003t0001g0166 others(2): Show |
5 | HG02080.hp2 NA18960.hp1 NA19074.hp1 others(2): Show |
intron_variant | MODIFIER | c.5049-694G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042283 | |||||||
chr1:201042344 | G | T | 2 | a0002c0072t0001g0265 a0002c0089t0001g0054 |
2 | HG01109.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.5049-755C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042344 | |||||||
chr1:201042433 | T | C | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.5049-844A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042433 | |||||||
chr1:201042467 | C | T | 3 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 |
3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.5048+814G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042467 | |||||||
chr1:201042609 | G | T | 31 | a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 others(28): Show |
33 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(30): Show |
intron_variant | MODIFIER | c.5048+672C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042609 | |||||||
chr1:201042696 | G | A | 105 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0109 others(102): Show |
109 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(106): Show |
intron_variant | MODIFIER | c.5048+585C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042696 | |||||||
chr1:201042885 | C | T | 23 | a0005c0022t0001g0260 a0005c0022t0003g0258 a0005c0024t0001g0257 others(20): Show |
24 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.5048+396G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042885 | |||||||
chr1:201042912 | AC | A | 44 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0002t0001g0124 others(41): Show |
45 | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.5048+368delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042912 | |||||||
chr1:201042914 | C | A | 1 | a0006c0085t0002g0298 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5048+367G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042914 | |||||||
chr1:201042916 | A | T | 44 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0002t0001g0124 others(41): Show |
45 | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(42): Show |
intron_variant | MODIFIER | c.5048+365T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201042916 | |||||||
chr1:201043059 | T | TGGGGCCA others(8): Show |
1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.5048+207_5048+221d others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043059 | |||||||
chr1:201043119 | C | T | 37 | a0002c0008t0001g0038 a0002c0008t0001g0218 a0002c0008t0001g0220 others(34): Show |
38 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.5048+162G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043119 | |||||||
chr1:201043160 | C | T | 2 | a0001c0001t0001g0133 a0001c0001t0001g0198 |
2 | NA18612.hp2 NA18967.hp2 |
intron_variant | MODIFIER | c.5048+121G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043160 | |||||||
chr1:201043241 | C | A | 1 | a0001c0021t0001g0232 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.5048+40G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 40/43 | chr1 | 201043241 | |||||||
chr1:201043560 | G | T | 1 | a0001c0002t0001g0147 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.4798-29C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043560 | |||||||
chr1:201043693 | T | C | 1 | a0001c0002t0001g0231 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.4798-162A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043693 | |||||||
chr1:201043754 | T | C | 2 | a0001c0014t0001g0252 a0001c0017t0001g0107 |
2 | HG01884.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.4798-223A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043754 | |||||||
chr1:201043767 | C | A | 1 | a0001c0001t0001g0057 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.4798-236G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043767 | |||||||
chr1:201043809 | C | T | 15 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0002t0001g0124 others(12): Show |
16 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.4798-278G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043809 | |||||||
chr1:201043840 | G | A | 23 | a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 others(20): Show |
23 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(20): Show |
intron_variant | MODIFIER | c.4798-309C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043840 | |||||||
chr1:201043964 | G | A | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4797+364C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043964 | |||||||
chr1:201043991 | G | A | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4797+337C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201043991 | |||||||
chr1:201044208 | T | C | 156 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0109 others(153): Show |
161 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.4797+120A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201044208 | |||||||
chr1:201044226 | C | A | 1 | a0001c0004t0001g0040 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4797+102G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 39/43 | chr1 | 201044226 | |||||||
chr1:201044563 | T | C | 2 | a0015c0027t0001g0181 a0015c0027t0001g0182 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4669-107A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044563 | |||||||
chr1:201044606 | G | A | 84 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(81): Show |
85 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(82): Show |
intron_variant | MODIFIER | c.4669-150C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044606 | |||||||
chr1:201044716 | G | T | 1 | a0026c0060t0001g0175 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4669-260C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044716 | |||||||
chr1:201044819 | G | C | 156 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0109 others(153): Show |
161 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.4669-363C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044819 | |||||||
chr1:201044893 | T | C | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4669-437A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201044893 | |||||||
chr1:201045480 | A | G | 59 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(56): Show |
60 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.4669-1024T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045480 | |||||||
chr1:201045658 | C | T | 3 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0025c0061t0001g0190 |
5 | HG02451.hp1 HG02970.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.4669-1202G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045658 | |||||||
chr1:201045660 | G | A | 1 | a0002c0010t0001g0117 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4669-1204C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045660 | |||||||
chr1:201045662 | G | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4669-1206C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045662 | |||||||
chr1:201045696 | C | T | 7 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(4): Show |
7 | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.4669-1240G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045696 | |||||||
chr1:201045711 | G | A | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.4669-1255C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045711 | |||||||
chr1:201045734 | C | CA | 6 | a0001c0001t0001g0030 a0001c0001t0001g0140 a0001c0001t0001g0180 others(3): Show |
6 | HG00544.hp1 HG01891.hp1 NA18956.hp1 others(3): Show |
intron_variant | MODIFIER | c.4669-1279dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | |||||||
chr1:201045734 | CA | C | 230 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(227): Show |
237 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
intron_variant | MODIFIER | c.4669-1279delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | |||||||
chr1:201045734 | CAA | C | 23 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0002t0001g0124 others(20): Show |
24 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.4669-1280_4669-127 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | |||||||
chr1:201045734 | CAAAAAAA others(1): Show |
C | 7 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(4): Show |
7 | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.4669-1286_4669-127 others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045734 | |||||||
chr1:201045751 | A | G | 3 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 |
3 | HG03195.hp1 NA18906.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4669-1295T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045751 | |||||||
chr1:201045825 | C | T | 2 | a0006c0071t0001g0039 a0023c0093t0001g0246 |
2 | HG02559.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.4668+1290G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045825 | |||||||
chr1:201045838 | C | T | 16 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0002t0001g0124 others(13): Show |
17 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.4668+1277G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045838 | |||||||
chr1:201045987 | CAAAATA | C | 49 | a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0041 others(46): Show |
50 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(47): Show |
intron_variant | MODIFIER | c.4668+1122_4668+112 others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201045987 | |||||||
chr1:201046167 | TTTATTTA | T | 35 | a0002c0008t0001g0038 a0002c0008t0001g0218 a0002c0008t0001g0220 others(32): Show |
36 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.4668+941_4668+947d others(9): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046167 | |||||||
chr1:201046171 | TTTA | T | 9 | a0005c0022t0001g0260 a0005c0046t0001g0255 a0005c0052t0001g0185 others(6): Show |
9 | HG02145.hp1 HG02615.hp2 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.4668+941_4668+943d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046171 | |||||||
chr1:201046174 | A | AT | 10 | a0001c0014t0001g0011 a0001c0017t0001g0047 a0001c0017t0001g0052 others(7): Show |
10 | HG01891.hp2 HG02723.hp2 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.4668+940dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | |||||||
chr1:201046174 | A | ATTTAT | 55 | a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 others(52): Show |
57 | HG00544.hp2 HG00558.hp2 HG01070.hp1 others(54): Show |
intron_variant | MODIFIER | c.4668+940_4668+941i others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | |||||||
chr1:201046174 | A | ATTTATTT others(2): Show |
31 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(28): Show |
31 | HG00408.hp1 HG00597.hp1 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.4668+940_4668+941i others(11): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | |||||||
chr1:201046174 | A | ATTTATTT others(6): Show |
1 | a0001c0001t0001g0296 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.4668+940_4668+941i others(15): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046174 | |||||||
chr1:201046187 | T | C | 33 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(30): Show |
33 | HG00408.hp1 HG00597.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.4668+928A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046187 | |||||||
chr1:201046423 | C | T | 1 | a0001c0001t0001g0109 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.4668+692G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046423 | |||||||
chr1:201046446 | G | A | 1 | a0001c0001t0002g0303 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4668+669C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046446 | |||||||
chr1:201046476 | TG | T | 44 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 others(41): Show |
45 | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(42): Show |
intron_variant | MODIFIER | c.4668+638delC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046476 | |||||||
chr1:201046655 | C | G | 25 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0001t0001g0241 others(22): Show |
26 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.4668+460G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046655 | |||||||
chr1:201046825 | C | T | 1 | a0002c0012t0001g0256 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4668+290G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046825 | |||||||
chr1:201046914 | C | T | 2 | a0001c0014t0001g0063 a0001c0051t0001g0064 |
2 | HG03704.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.4668+201G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046914 | |||||||
chr1:201046996 | G | C | 32 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(29): Show |
32 | HG00408.hp1 HG00597.hp1 HG01928.hp2 others(29): Show |
intron_variant | MODIFIER | c.4668+119C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201046996 | |||||||
chr1:201047003 | T | C | 1 | a0001c0001t0001g0183 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.4668+112A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201047003 | |||||||
chr1:201047096 | A | G | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4668+19T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | 201047096 | |||||||
chr1:201047302 | T | G | 1 | a0001c0003t0001g0160 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.4544-63A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 37/43 | chr1 | 201047302 | |||||||
chr1:201047518 | C | T | 58 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(55): Show |
59 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(56): Show |
splice_region_variant&intron_variant | LOW | c.4543+7G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 37/43 | chr1 | 201047518 | |||||||
chr1:201047787 | G | A | 1 | a0001c0002t0001g0115 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4442-161C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047787 | |||||||
chr1:201047855 | C | T | 1 | a0001c0003t0001g0242 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.4442-229G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047855 | |||||||
chr1:201047890 | C | T | 2 | a0003c0005t0001g0136 a0003c0005t0001g0137 |
2 | NA18981.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.4442-264G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047890 | |||||||
chr1:201047903 | T | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-277A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047903 | |||||||
chr1:201047907 | A | G | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-281T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047907 | |||||||
chr1:201047920 | CCCCAGGC others(10): Show |
C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-311_4442-295d others(19): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047920 | |||||||
chr1:201047949 | C | T | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-323G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047949 | |||||||
chr1:201047961 | T | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-335A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047961 | |||||||
chr1:201047981 | T | A | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-355A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047981 | |||||||
chr1:201047985 | T | G | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-359A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047985 | |||||||
chr1:201047989 | G | T | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-363C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047989 | |||||||
chr1:201047991 | C | A | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-365G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047991 | |||||||
chr1:201047992 | T | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-366A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201047992 | |||||||
chr1:201048023 | A | C | 1 | a0001c0001t0001g0180 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.4442-397T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048023 | |||||||
chr1:201048374 | C | T | 1 | a0006c0088t0001g0237 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4441+208G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048374 | |||||||
chr1:201048474 | T | G | 22 | a0005c0022t0001g0260 a0005c0022t0003g0258 a0005c0024t0001g0257 others(19): Show |
23 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.4441+108A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048474 | |||||||
chr1:201048549 | A | C | 2 | a0022c0095t0001g0235 a0036c0069t0001g0081 |
2 | HG02258.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4441+33T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048549 | |||||||
chr1:201048559 | C | CT | 49 | a0001c0001t0001g0035 a0002c0008t0001g0013 a0002c0008t0001g0038 others(46): Show |
50 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(47): Show |
intron_variant | MODIFIER | c.4441+22dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | 201048559 | |||||||
chr1:201048930 | C | A | 2 | a0001c0004t0001g0068 a0001c0083t0001g0101 |
2 | HG01361.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.4338+73G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 35/43 | chr1 | 201048930 | |||||||
chr1:201048990 | C | A | 1 | a0006c0085t0002g0298 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4338+13G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 35/43 | chr1 | 201048990 | |||||||
chr1:201049334 | T | G | 17 | a0005c0022t0001g0260 a0005c0022t0003g0258 a0005c0024t0001g0257 others(14): Show |
17 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.4242-235A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049334 | |||||||
chr1:201049357 | G | A | 5 | a0001c0001t0001g0240 a0001c0001t0001g0270 a0001c0001t0001g0275 others(2): Show |
5 | HG00438.hp2 HG02071.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.4242-258C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049357 | |||||||
chr1:201049493 | T | C | 1 | a0001c0002t0001g0148 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.4242-394A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049493 | |||||||
chr1:201049563 | G | T | 1 | a0002c0075t0001g0195 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.4242-464C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049563 | |||||||
chr1:201049818 | T | C | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4241+571A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049818 | |||||||
chr1:201049850 | A | C | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4241+539T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049850 | |||||||
chr1:201049911 | G | A | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4241+478C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049911 | |||||||
chr1:201049931 | C | T | 24 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0001t0001g0241 others(21): Show |
25 | HG00140.hp2 HG00280.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.4241+458G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049931 | |||||||
chr1:201049951 | C | T | 7 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(4): Show |
7 | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.4241+438G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049951 | |||||||
chr1:201049953 | G | A | 5 | a0006c0055t0001g0289 a0006c0066t0001g0196 a0006c0085t0002g0298 others(2): Show |
6 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.4241+436C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201049953 | |||||||
chr1:201050206 | C | T | 57 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(54): Show |
59 | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.4241+183G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201050206 | |||||||
chr1:201050234 | G | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4241+155C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201050234 | |||||||
chr1:201050315 | G | C | 4 | a0001c0002t0001g0050 a0001c0003t0001g0166 a0001c0003t0001g0212 others(1): Show |
4 | NA18960.hp1 NA19074.hp1 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.4241+74C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 34/43 | chr1 | 201050315 | |||||||
chr1:201050591 | T | C | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4114-75A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050591 | |||||||
chr1:201050615 | C | T | 1 | a0001c0001t0001g0109 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.4114-99G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050615 | |||||||
chr1:201050637 | C | T | 1 | a0001c0002t0001g0276 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4114-121G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050637 | |||||||
chr1:201050705 | G | A | 1 | a0001c0029t0001g0273 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.4114-189C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050705 | |||||||
chr1:201050706 | T | C | 1 | a0001c0002t0001g0276 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.4114-190A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050706 | |||||||
chr1:201050868 | G | A | 5 | a0002c0008t0001g0274 a0002c0012t0001g0245 a0002c0072t0001g0265 others(2): Show |
5 | HG01109.hp2 HG01884.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4113+116C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050868 | |||||||
chr1:201050977 | A | G | 280 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(277): Show |
287 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
splice_region_variant&intron_variant | LOW | c.4113+7T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 33/43 | chr1 | 201050977 | |||||||
chr1:201051223 | G | T | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3954-80C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051223 | |||||||
chr1:201051232 | G | A | 7 | a0001c0013t0001g0007 a0001c0013t0001g0291 a0001c0013t0001g0292 others(4): Show |
8 | HG00738.hp1 HG01081.hp1 HG01123.hp1 others(5): Show |
intron_variant | MODIFIER | c.3954-89C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051232 | |||||||
chr1:201051446 | T | G | 279 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(276): Show |
286 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
intron_variant | MODIFIER | c.3954-303A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051446 | |||||||
chr1:201051599 | A | G | 279 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(276): Show |
286 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
intron_variant | MODIFIER | c.3954-456T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051599 | |||||||
chr1:201051605 | A | T | 1 | a0001c0070t0001g0120 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3954-462T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051605 | |||||||
chr1:201051689 | C | A | 6 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(3): Show |
6 | HG02895.hp2 HG02897.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.3954-546G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051689 | |||||||
chr1:201051723 | T | C | 137 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(134): Show |
140 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
intron_variant | MODIFIER | c.3954-580A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051723 | |||||||
chr1:201051763 | G | T | 1 | a0001c0001t0001g0281 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.3954-620C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051763 | |||||||
chr1:201051984 | G | A | 1 | a0004c0006t0001g0294 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3953+573C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201051984 | |||||||
chr1:201052068 | C | T | 1 | a0001c0003t0001g0144 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.3953+489G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052068 | |||||||
chr1:201052127 | C | T | 4 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0014c0032t0001g0266 others(1): Show |
4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3953+430G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052127 | |||||||
chr1:201052233 | C | T | 1 | a0001c0001t0001g0070 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.3953+324G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052233 | |||||||
chr1:201052247 | C | T | 12 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0032 others(9): Show |
12 | HG01243.hp2 HG01255.hp2 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.3953+310G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052247 | |||||||
chr1:201052392 | C | T | 1 | a0002c0020t0001g0139 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3953+165G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052392 | |||||||
chr1:201052491 | C | G | 82 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(79): Show |
84 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(81): Show |
intron_variant | MODIFIER | c.3953+66G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052491 | |||||||
chr1:201052550 | C | T | 3 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 |
3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
splice_region_variant&intron_variant | LOW | c.3953+7G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052550 | |||||||
chr1:201052551 | G | A | 4 | a0001c0004t0001g0123 a0001c0017t0001g0223 a0001c0050t0001g0233 others(1): Show |
4 | HG02717.hp2 HG02818.hp2 HG02922.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.3953+6C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 32/43 | chr1 | 201052551 | |||||||
chr1:201052717 | C | T | 1 | a0005c0078t0001g0226 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3862-69G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201052717 | |||||||
chr1:201052861 | G | A | 3 | a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0202 |
3 | HG00609.hp2 NA19003.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.3862-213C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201052861 | |||||||
chr1:201052899 | A | T | 3 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0025c0061t0001g0190 |
5 | HG02451.hp1 HG02970.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.3862-251T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201052899 | |||||||
chr1:201053041 | A | C | 1 | a0001c0001t0001g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3861+168T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201053041 | |||||||
chr1:201053078 | T | C | 2 | a0002c0012t0001g0256 a0002c0045t0001g0219 |
2 | HG01891.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3861+131A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201053078 | |||||||
chr1:201053195 | C | T | 1 | a0033c0040t0001g0008 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3861+14G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 31/43 | chr1 | 201053195 | |||||||
chr1:201053283 | C | T | 1 | a0001c0063t0001g0193 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3796-9G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053283 | |||||||
chr1:201053343 | G | C | 1 | a0004c0006t0001g0089 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3796-69C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053343 | |||||||
chr1:201053385 | G | T | 3 | a0002c0012t0001g0269 a0002c0023t0001g0227 a0002c0023t0002g0299 |
3 | HG02717.hp1 HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3795+74C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053385 | |||||||
chr1:201053406 | A | C | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3795+53T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 30/43 | chr1 | 201053406 | |||||||
chr1:201053651 | C | T | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3667-64G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053651 | |||||||
chr1:201053817 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3667-230G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053817 | |||||||
chr1:201053906 | C | G | 136 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(133): Show |
139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.3667-319G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053906 | |||||||
chr1:201053950 | C | T | 16 | a0005c0022t0001g0260 a0005c0022t0003g0258 a0005c0024t0001g0257 others(13): Show |
16 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.3667-363G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053950 | |||||||
chr1:201053951 | C | T | 269 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(266): Show |
276 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
intron_variant | MODIFIER | c.3667-364G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053951 | |||||||
chr1:201053970 | T | C | 279 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(276): Show |
286 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
intron_variant | MODIFIER | c.3667-383A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053970 | |||||||
chr1:201053981 | C | T | 16 | a0005c0022t0001g0260 a0005c0022t0003g0258 a0005c0024t0001g0257 others(13): Show |
16 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.3667-394G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201053981 | |||||||
chr1:201054308 | C | T | 202 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(199): Show |
208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.3666+197G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201054308 | |||||||
chr1:201054366 | C | T | 1 | a0001c0030t0001g0200 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.3666+139G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 29/43 | chr1 | 201054366 | |||||||
chr1:201054656 | A | T | 1 | a0001c0007t0001g0111 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.3610-95T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054656 | |||||||
chr1:201054852 | G | C | 278 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(275): Show |
285 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
intron_variant | MODIFIER | c.3610-291C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054852 | |||||||
chr1:201054898 | G | A | 1 | a0004c0006t0001g0294 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3610-337C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054898 | |||||||
chr1:201054931 | G | A | 280 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(277): Show |
287 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
intron_variant | MODIFIER | c.3610-370C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054931 | |||||||
chr1:201054964 | T | C | 1 | a0001c0001t0001g0183 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3610-403A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201054964 | |||||||
chr1:201055158 | T | C | 1 | a0002c0010t0001g0102 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3610-597A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055158 | |||||||
chr1:201055193 | G | T | 1 | a0005c0052t0001g0185 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3610-632C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055193 | |||||||
chr1:201055458 | C | T | 27 | a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 others(24): Show |
27 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(24): Show |
intron_variant | MODIFIER | c.3610-897G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055458 | |||||||
chr1:201055821 | C | T | 60 | a0001c0001t0001g0035 a0001c0033t0001g0082 a0001c0033t0001g0251 others(57): Show |
61 | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(58): Show |
intron_variant | MODIFIER | c.3610-1260G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055821 | |||||||
chr1:201055903 | T | C | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 |
3 | HG02886.hp2 HG02976.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3610-1342A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055903 | |||||||
chr1:201055928 | G | A | 3 | a0002c0058t0001g0103 a0002c0064t0001g0238 a0007c0081t0001g0023 |
3 | HG01074.hp2 HG02257.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.3610-1367C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055928 | |||||||
chr1:201055946 | T | A | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3610-1385A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201055946 | |||||||
chr1:201056050 | C | CACAG | 4 | a0001c0001t0001g0057 a0010c0039t0001g0045 a0010c0039t0002g0297 others(1): Show |
4 | HG02886.hp2 HG02976.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.3610-1493_3610-149 others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056050 | |||||||
chr1:201056050 | C | G | 64 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(61): Show |
66 | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.3610-1489G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056050 | |||||||
chr1:201056066 | G | GACACACA others(3): Show |
1 | a0002c0010t0001g0117 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3610-1506_3610-150 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056066 | |||||||
chr1:201056070 | G | C | 5 | a0001c0004t0001g0018 a0001c0004t0001g0040 a0001c0009t0001g0053 others(2): Show |
5 | HG02559.hp1 HG02965.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.3610-1509C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GAC | 5 | a0002c0048t0001g0234 a0006c0066t0001g0196 a0006c0088t0001g0237 others(2): Show |
5 | HG00558.hp2 HG02004.hp2 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.3610-1511_3610-151 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACAC | 20 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0002c0008t0001g0013 others(17): Show |
22 | HG00639.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.3610-1513_3610-151 others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACAC | 27 | a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0247 others(24): Show |
27 | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(24): Show |
intron_variant | MODIFIER | c.3610-1515_3610-151 others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACACA others(1): Show |
20 | a0001c0001t0001g0128 a0001c0002t0001g0148 a0001c0009t0001g0001 others(17): Show |
22 | HG01070.hp2 HG01884.hp2 HG01928.hp2 others(19): Show |
intron_variant | MODIFIER | c.3610-1517_3610-151 others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACACA others(3): Show |
5 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0026t0001g0027 others(2): Show |
5 | HG01891.hp1 HG01952.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.3610-1519_3610-151 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACACA others(5): Show |
19 | a0001c0001t0001g0109 a0001c0001t0001g0248 a0001c0002t0001g0276 others(16): Show |
19 | HG02015.hp2 HG02040.hp1 HG02074.hp2 others(16): Show |
intron_variant | MODIFIER | c.3610-1521_3610-151 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACACA others(7): Show |
15 | a0001c0001t0001g0079 a0001c0002t0001g0204 a0001c0002t0001g0231 others(12): Show |
15 | HG00544.hp2 HG02056.hp2 HG04115.hp1 others(12): Show |
intron_variant | MODIFIER | c.3610-1523_3610-151 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACACA others(9): Show |
5 | a0001c0002t0001g0119 a0001c0007t0001g0097 a0001c0007t0001g0179 others(2): Show |
5 | NA18946.hp2 NA18969.hp2 NA19054.hp2 others(2): Show |
intron_variant | MODIFIER | c.3610-1525_3610-151 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | G | GACACACA others(11): Show |
2 | a0001c0021t0001g0207 a0031c0041t0001g0044 |
2 | HG02056.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.3610-1527_3610-151 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056070 | GAC | G | 3 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 |
3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3610-1511_3610-151 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056070 | |||||||
chr1:201056078 | C | CACACACA others(9): Show |
1 | a0001c0011t0001g0015 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3610-1518_3610-151 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056078 | |||||||
chr1:201056078 | C | CACACACA others(5): Show |
1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3610-1518_3610-151 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056078 | |||||||
chr1:201056080 | C | CACACACA others(7): Show |
4 | a0001c0004t0001g0059 a0001c0009t0001g0262 a0001c0011t0001g0014 others(1): Show |
4 | HG01243.hp1 HG02486.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3610-1520_3610-151 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056080 | |||||||
chr1:201056080 | C | CACACACA others(5): Show |
1 | a0001c0004t0001g0025 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3610-1520_3610-151 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056080 | |||||||
chr1:201056082 | C | CACACACA others(6): Show |
1 | a0001c0001t0001g0090 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3610-1522_3610-152 others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056082 | |||||||
chr1:201056082 | C | CACACACA others(5): Show |
119 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(116): Show |
122 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.3610-1522_3610-152 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056082 | |||||||
chr1:201056082 | C | CACACACA others(3): Show |
5 | a0001c0001t0001g0240 a0001c0001t0001g0270 a0001c0001t0001g0275 others(2): Show |
5 | HG00438.hp2 HG02071.hp1 HG02080.hp1 others(2): Show |
intron_variant | MODIFIER | c.3610-1522_3610-152 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056082 | |||||||
chr1:201056084 | C | CACACACA others(3): Show |
1 | a0001c0017t0001g0107 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3610-1524_3610-152 others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056084 | |||||||
chr1:201056147 | C | T | 3 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0023c0093t0001g0246 |
3 | HG02647.hp2 HG02965.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3610-1586G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056147 | |||||||
chr1:201056215 | G | T | 4 | a0001c0004t0001g0123 a0001c0017t0001g0223 a0001c0050t0001g0233 others(1): Show |
4 | HG02717.hp2 HG02818.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3610-1654C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056215 | |||||||
chr1:201056399 | A | C | 2 | a0002c0074t0001g0249 a0036c0069t0001g0081 |
2 | HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3610-1838T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056399 | |||||||
chr1:201056503 | A | G | 2 | a0002c0074t0001g0249 a0036c0069t0001g0081 |
2 | HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3609+1905T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056503 | |||||||
chr1:201056554 | C | A | 140 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(137): Show |
143 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
intron_variant | MODIFIER | c.3609+1854G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056554 | |||||||
chr1:201056567 | C | A | 141 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(138): Show |
144 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
intron_variant | MODIFIER | c.3609+1841G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056567 | |||||||
chr1:201056684 | C | A | 1 | a0001c0002t0001g0204 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3609+1724G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056684 | |||||||
chr1:201056685 | A | C | 1 | a0001c0002t0001g0204 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3609+1723T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056685 | |||||||
chr1:201056722 | C | T | 260 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(257): Show |
266 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
intron_variant | MODIFIER | c.3609+1686G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056722 | |||||||
chr1:201056812 | T | C | 25 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(22): Show |
25 | HG00408.hp1 HG00597.hp1 HG01928.hp2 others(22): Show |
intron_variant | MODIFIER | c.3609+1596A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056812 | |||||||
chr1:201056841 | C | G | 6 | a0001c0007t0001g0062 a0001c0007t0001g0162 a0001c0007t0001g0179 others(3): Show |
6 | HG02056.hp2 NA18612.hp1 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.3609+1567G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201056841 | |||||||
chr1:201057014 | G | T | 1 | a0001c0002t0001g0204 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3609+1394C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057014 | |||||||
chr1:201057159 | C | A | 25 | a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 others(22): Show |
25 | HG00544.hp2 HG01516.hp2 HG01952.hp1 others(22): Show |
intron_variant | MODIFIER | c.3609+1249G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057159 | |||||||
chr1:201057179 | T | C | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3609+1229A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057179 | |||||||
chr1:201057206 | A | T | 1 | a0001c0030t0001g0200 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.3609+1202T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057206 | |||||||
chr1:201057626 | C | T | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3609+782G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057626 | |||||||
chr1:201057759 | G | A | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3609+649C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057759 | |||||||
chr1:201057788 | T | C | 256 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(253): Show |
262 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
intron_variant | MODIFIER | c.3609+620A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057788 | |||||||
chr1:201057812 | AT | A | 247 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(244): Show |
252 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
intron_variant | MODIFIER | c.3609+595delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057812 | |||||||
chr1:201057916 | G | A | 1 | a0001c0009t0001g0186 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3609+492C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057916 | |||||||
chr1:201057927 | C | T | 145 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(142): Show |
148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.3609+481G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057927 | |||||||
chr1:201057948 | C | T | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3609+460G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201057948 | |||||||
chr1:201058192 | A | G | 4 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0016c0028t0001g0058 others(1): Show |
4 | HG02109.hp2 HG03139.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.3609+216T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 28/43 | chr1 | 201058192 | |||||||
chr1:201058521 | G | C | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3526-30C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058521 | |||||||
chr1:201058688 | T | C | 3 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0025c0061t0001g0190 |
5 | HG02451.hp1 HG02970.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.3526-197A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058688 | |||||||
chr1:201058723 | G | A | 8 | a0002c0008t0001g0274 a0002c0012t0001g0245 a0002c0012t0001g0261 others(5): Show |
8 | HG01109.hp2 HG01884.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.3526-232C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058723 | |||||||
chr1:201058820 | G | C | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3526-329C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201058820 | |||||||
chr1:201059140 | C | A | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3525+49G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 27/43 | chr1 | 201059140 | |||||||
chr1:201059328 | CA | C | 4 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0014c0032t0001g0266 others(1): Show |
4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3415-30delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059328 | |||||||
chr1:201059338 | G | A | 21 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(18): Show |
21 | HG01891.hp1 HG02055.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.3415-39C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059338 | |||||||
chr1:201059373 | C | T | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3415-74G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059373 | |||||||
chr1:201059582 | A | G | 2 | a0003c0057t0001g0290 a0003c0086t0001g0094 |
2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.3415-283T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059582 | |||||||
chr1:201059706 | C | A | 4 | a0002c0008t0001g0013 a0002c0008t0001g0041 a0002c0008t0001g0042 others(1): Show |
4 | HG01891.hp2 HG02647.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.3415-407G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059706 | |||||||
chr1:201059892 | T | C | 1 | a0004c0006t0001g0074 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3415-593A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201059892 | |||||||
chr1:201060059 | C | T | 3 | a0002c0012t0001g0194 a0007c0036t0001g0286 a0013c0034t0001g0002 |
4 | HG01106.hp2 HG01516.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.3414+599G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060059 | |||||||
chr1:201060085 | T | C | 42 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0262 others(39): Show |
43 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3414+573A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060085 | |||||||
chr1:201060216 | C | T | 1 | a0004c0006t0001g0089 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3414+442G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060216 | |||||||
chr1:201060303 | T | C | 140 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(137): Show |
145 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
intron_variant | MODIFIER | c.3414+355A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060303 | |||||||
chr1:201060591 | T | TCATCCTG others(7): Show |
31 | a0001c0001t0001g0151 a0001c0007t0001g0056 a0001c0007t0001g0062 others(28): Show |
31 | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(28): Show |
intron_variant | MODIFIER | c.3414+53_3414+66dup others(14): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 26/43 | chr1 | 201060591 | |||||||
chr1:201060832 | C | T | 2 | a0001c0013t0001g0007 a0001c0013t0001g0295 |
3 | HG01123.hp1 HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.3256-16G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201060832 | |||||||
chr1:201060856 | C | A | 3 | a0002c0008t0001g0013 a0002c0008t0001g0041 a0002c0008t0001g0042 |
3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3256-40G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201060856 | |||||||
chr1:201060995 | C | T | 2 | a0015c0027t0001g0181 a0015c0027t0001g0182 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3256-179G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201060995 | |||||||
chr1:201061010 | G | A | 48 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0004t0001g0040 others(45): Show |
49 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.3256-194C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061010 | |||||||
chr1:201061082 | C | G | 4 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0014c0032t0001g0266 others(1): Show |
4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3255+185G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061082 | |||||||
chr1:201061134 | G | A | 1 | a0001c0001t0001g0132 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.3255+133C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061134 | |||||||
chr1:201061199 | C | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3255+68G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 25/43 | chr1 | 201061199 | |||||||
chr1:201061540 | G | A | 109 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(106): Show |
112 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.3054-72C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061540 | |||||||
chr1:201061616 | G | A | 3 | a0001c0009t0001g0262 a0002c0074t0001g0249 a0036c0069t0001g0081 |
3 | HG01243.hp1 HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3054-148C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061616 | |||||||
chr1:201061796 | A | T | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3053+148T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061796 | |||||||
chr1:201061860 | C | T | 41 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0262 others(38): Show |
42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3053+84G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061860 | |||||||
chr1:201061931 | A | G | 4 | a0002c0008t0001g0038 a0002c0010t0001g0117 a0020c0087t0001g0019 others(1): Show |
4 | HG01070.hp2 HG01175.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.3053+13T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 24/43 | chr1 | 201061931 | |||||||
chr1:201062179 | A | C | 185 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(182): Show |
190 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
intron_variant | MODIFIER | c.2907-89T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 23/43 | chr1 | 201062179 | |||||||
chr1:201062307 | C | T | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2906+155G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 23/43 | chr1 | 201062307 | |||||||
chr1:201062320 | C | A | 2 | a0001c0002t0001g0147 a0001c0002t0001g0204 |
2 | NA19078.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.2906+142G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 23/43 | chr1 | 201062320 | |||||||
chr1:201062603 | G | C | 26 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0132 others(23): Show |
26 | HG00408.hp1 HG00597.hp1 HG01952.hp2 others(23): Show |
intron_variant | MODIFIER | c.2854-89C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062603 | |||||||
chr1:201062603 | G | T | 1 | a0001c0002t0001g0115 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2854-89C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062603 | |||||||
chr1:201062865 | C | T | 2 | a0002c0012t0001g0261 a0002c0045t0001g0219 |
2 | HG02145.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.2854-351G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062865 | |||||||
chr1:201062898 | G | C | 50 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0004t0001g0040 others(47): Show |
51 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.2854-384C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062898 | |||||||
chr1:201062907 | C | T | 1 | a0003c0005t0001g0280 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2854-393G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201062907 | |||||||
chr1:201063073 | G | A | 2 | a0002c0012t0001g0261 a0002c0045t0001g0219 |
2 | HG02145.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.2854-559C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063073 | |||||||
chr1:201063081 | T | G | 3 | a0001c0001t0001g0230 a0001c0002t0001g0077 a0001c0002t0001g0271 |
3 | HG02698.hp2 HG03831.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.2854-567A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063081 | |||||||
chr1:201063088 | G | T | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2854-574C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063088 | |||||||
chr1:201063131 | C | CT | 5 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0014t0001g0011 others(2): Show |
7 | HG02109.hp2 HG02451.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.2854-618dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063131 | |||||||
chr1:201063145 | T | C | 6 | a0001c0001t0001g0230 a0001c0004t0001g0123 a0001c0009t0001g0186 others(3): Show |
6 | HG02698.hp2 HG02717.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.2854-631A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063145 | |||||||
chr1:201063145 | T | TC | 130 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(127): Show |
133 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
intron_variant | MODIFIER | c.2854-632dupG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063145 | |||||||
chr1:201063183 | A | T | 110 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(107): Show |
113 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.2854-669T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063183 | |||||||
chr1:201063340 | A | T | 41 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0262 others(38): Show |
42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2854-826T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063340 | |||||||
chr1:201063410 | C | T | 41 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0262 others(38): Show |
42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2854-896G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063410 | |||||||
chr1:201063471 | G | A | 24 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0132 others(21): Show |
24 | HG00408.hp1 HG00597.hp1 HG01952.hp2 others(21): Show |
intron_variant | MODIFIER | c.2854-957C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063471 | |||||||
chr1:201063585 | A | G | 3 | a0002c0058t0001g0103 a0002c0064t0001g0238 a0007c0081t0001g0023 |
3 | HG01074.hp2 HG02257.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2854-1071T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063585 | |||||||
chr1:201063609 | G | T | 41 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0262 others(38): Show |
42 | HG00558.hp2 HG00621.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.2854-1095C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063609 | |||||||
chr1:201063680 | G | A | 1 | a0001c0011t0001g0016 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2854-1166C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063680 | |||||||
chr1:201063808 | C | T | 4 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0010c0077t0001g0010 others(1): Show |
4 | HG02258.hp2 HG02886.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2854-1294G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063808 | |||||||
chr1:201063813 | G | A | 3 | a0002c0008t0001g0013 a0002c0008t0001g0041 a0002c0008t0001g0042 |
3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2854-1299C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063813 | |||||||
chr1:201063933 | C | T | 1 | a0025c0061t0001g0190 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2854-1419G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201063933 | |||||||
chr1:201064191 | C | G | 1 | a0001c0001t0001g0057 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2853+1647G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064191 | |||||||
chr1:201064238 | A | G | 3 | a0001c0009t0001g0262 a0002c0074t0001g0249 a0036c0069t0001g0081 |
3 | HG01243.hp1 HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2853+1600T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064238 | |||||||
chr1:201064487 | C | T | 3 | a0001c0009t0001g0262 a0002c0074t0001g0249 a0036c0069t0001g0081 |
3 | HG01243.hp1 HG02965.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2853+1351G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064487 | |||||||
chr1:201064592 | G | A | 78 | a0001c0001t0001g0128 a0001c0001t0001g0151 a0001c0001t0001g0217 others(75): Show |
81 | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(78): Show |
intron_variant | MODIFIER | c.2853+1246C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064592 | |||||||
chr1:201064951 | C | G | 28 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0001 others(25): Show |
30 | HG00621.hp2 HG01070.hp2 HG01074.hp2 others(27): Show |
intron_variant | MODIFIER | c.2853+887G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201064951 | |||||||
chr1:201065048 | C | A | 1 | a0001c0004t0001g0208 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2853+790G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065048 | |||||||
chr1:201065144 | C | T | 39 | a0001c0001t0001g0128 a0001c0001t0001g0217 a0001c0009t0001g0001 others(36): Show |
41 | HG00621.hp2 HG01070.hp2 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.2853+694G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065144 | |||||||
chr1:201065147 | G | A | 1 | a0002c0008t0001g0274 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2853+691C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065147 | |||||||
chr1:201065408 | T | C | 77 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(74): Show |
80 | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(77): Show |
intron_variant | MODIFIER | c.2853+430A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065408 | |||||||
chr1:201065520 | A | T | 65 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0132 others(62): Show |
65 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.2853+318T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065520 | |||||||
chr1:201065702 | C | T | 1 | a0005c0046t0001g0255 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2853+136G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065702 | |||||||
chr1:201065739 | G | A | 21 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0033t0001g0082 others(18): Show |
21 | HG01074.hp2 HG02109.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.2853+99C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065739 | |||||||
chr1:201065807 | G | T | 1 | a0003c0005t0001g0161 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2853+31C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 22/43 | chr1 | 201065807 | |||||||
chr1:201065959 | G | A | 6 | a0001c0003t0001g0072 a0006c0066t0001g0196 a0006c0088t0001g0237 others(3): Show |
6 | HG00558.hp2 HG01175.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2746-14C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201065959 | |||||||
chr1:201065970 | A | G | 8 | a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 others(5): Show |
8 | HG01074.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2746-25T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201065970 | |||||||
chr1:201066215 | G | A | 4 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0014c0032t0001g0266 others(1): Show |
4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.2745+14C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 21/43 | chr1 | 201066215 | |||||||
chr1:201066360 | A | T | 4 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0074t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2658-44T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066360 | |||||||
chr1:201066390 | C | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2658-74G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066390 | |||||||
chr1:201066460 | C | T | 1 | a0006c0085t0002g0298 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2658-144G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066460 | |||||||
chr1:201066479 | G | T | 105 | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0132 others(102): Show |
108 | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(105): Show |
intron_variant | MODIFIER | c.2658-163C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066479 | |||||||
chr1:201066522 | A | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2658-206T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066522 | |||||||
chr1:201066574 | T | C | 1 | a0001c0002t0001g0051 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2658-258A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066574 | |||||||
chr1:201066577 | G | A | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2658-261C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066577 | |||||||
chr1:201066593 | G | A | 1 | a0001c0002t0001g0119 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.2658-277C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066593 | |||||||
chr1:201066770 | C | T | 7 | a0001c0001t0001g0151 a0001c0004t0001g0029 a0001c0004t0001g0071 others(4): Show |
7 | HG00597.hp2 HG01168.hp1 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.2657+117G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 20/43 | chr1 | 201066770 | |||||||
chr1:201067069 | G | A | 4 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0017t0001g0107 others(1): Show |
6 | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.2551-76C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067069 | |||||||
chr1:201067132 | A | G | 1 | a0035c0059t0001g0083 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2551-139T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067132 | |||||||
chr1:201067185 | T | C | 4 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0017t0001g0107 others(1): Show |
6 | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.2551-192A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067185 | |||||||
chr1:201067279 | G | C | 25 | a0001c0001t0001g0151 a0001c0007t0001g0056 a0001c0007t0001g0062 others(22): Show |
25 | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(22): Show |
intron_variant | MODIFIER | c.2551-286C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067279 | |||||||
chr1:201067340 | T | G | 4 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0014c0032t0001g0266 others(1): Show |
4 | HG02895.hp2 HG02897.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.2551-347A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067340 | |||||||
chr1:201067516 | A | G | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2551-523T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067516 | |||||||
chr1:201067551 | C | T | 1 | a0006c0085t0002g0298 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2551-558G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067551 | |||||||
chr1:201067608 | G | A | 25 | a0001c0001t0001g0151 a0001c0007t0001g0056 a0001c0007t0001g0062 others(22): Show |
25 | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(22): Show |
intron_variant | MODIFIER | c.2551-615C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067608 | |||||||
chr1:201067808 | G | A | 12 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0013t0001g0007 others(9): Show |
15 | HG01081.hp1 HG01123.hp1 HG01256.hp1 others(12): Show |
intron_variant | MODIFIER | c.2551-815C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067808 | |||||||
chr1:201067826 | C | G | 1 | a0004c0006t0001g0205 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2551-833G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067826 | |||||||
chr1:201067941 | T | C | 254 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(251): Show |
261 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
intron_variant | MODIFIER | c.2551-948A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067941 | |||||||
chr1:201067955 | C | T | 9 | a0005c0044t0001g0285 a0005c0054t0001g0177 a0006c0055t0001g0289 others(6): Show |
10 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2551-962G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067955 | |||||||
chr1:201067956 | G | A | 2 | a0001c0001t0001g0030 a0001c0001t0001g0202 |
2 | NA19003.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.2551-963C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067956 | |||||||
chr1:201067986 | T | C | 1 | a0002c0047t0001g0187 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2551-993A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201067986 | |||||||
chr1:201068008 | C | T | 1 | a0001c0001t0001g0057 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2551-1015G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068008 | |||||||
chr1:201068039 | A | G | 3 | a0010c0039t0001g0045 a0010c0039t0002g0297 a0022c0095t0001g0235 |
3 | HG02258.hp2 HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.2551-1046T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068039 | |||||||
chr1:201068042 | T | C | 1 | a0002c0012t0001g0256 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2551-1049A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068042 | |||||||
chr1:201068071 | C | T | 5 | a0002c0045t0001g0219 a0005c0022t0001g0260 a0008c0018t0001g0165 others(2): Show |
5 | HG02145.hp1 HG03098.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.2550+1066G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068071 | |||||||
chr1:201068084 | G | A | 23 | a0001c0001t0001g0151 a0001c0004t0001g0040 a0001c0007t0001g0097 others(20): Show |
23 | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(20): Show |
intron_variant | MODIFIER | c.2550+1053C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068084 | |||||||
chr1:201068179 | A | G | 53 | a0001c0001t0001g0151 a0001c0001t0001g0281 a0001c0004t0001g0040 others(50): Show |
55 | HG00544.hp2 HG00597.hp2 HG01109.hp2 others(52): Show |
intron_variant | MODIFIER | c.2550+958T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068179 | |||||||
chr1:201068192 | G | A | 1 | a0002c0012t0001g0194 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2550+945C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068192 | |||||||
chr1:201068222 | G | A | 1 | a0033c0040t0001g0008 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.2550+915C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068222 | |||||||
chr1:201068231 | C | CT | 15 | a0001c0002t0001g0147 a0001c0003t0001g0072 a0001c0003t0001g0153 others(12): Show |
15 | HG00438.hp1 HG01069.hp1 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.2550+905dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CT | C | 156 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0021 others(153): Show |
159 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
intron_variant | MODIFIER | c.2550+905delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTT | C | 34 | a0001c0001t0001g0155 a0001c0001t0001g0275 a0001c0009t0001g0186 others(31): Show |
35 | HG01070.hp1 HG01071.hp2 HG01106.hp1 others(32): Show |
intron_variant | MODIFIER | c.2550+904_2550+905d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTTT | C | 7 | a0002c0023t0001g0227 a0002c0023t0002g0299 a0005c0094t0001g0263 others(4): Show |
7 | HG02055.hp1 HG02647.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.2550+903_2550+905d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTTTT | C | 19 | a0001c0001t0001g0151 a0001c0007t0001g0097 a0001c0007t0001g0111 others(16): Show |
19 | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.2550+902_2550+905d others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTTTTT | C | 15 | a0001c0001t0001g0281 a0001c0004t0001g0040 a0001c0009t0001g0053 others(12): Show |
16 | HG00738.hp2 HG01081.hp1 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.2550+901_2550+905d others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTTTTTT | C | 4 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0017t0001g0107 others(1): Show |
6 | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.2550+900_2550+905d others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTTTTTTT others(3): Show |
C | 1 | a0001c0003t0001g0144 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2550+896_2550+905d others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068231 | CTTTTTTT others(6): Show |
C | 2 | a0001c0030t0001g0171 a0001c0030t0001g0200 |
2 | HG00408.hp2 HG02040.hp2 |
intron_variant | MODIFIER | c.2550+893_2550+905d others(15): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068231 | |||||||
chr1:201068232 | T | C | 2 | a0001c0050t0001g0233 a0001c0079t0001g0268 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2550+905A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068232 | |||||||
chr1:201068270 | G | GTC | 3 | a0002c0008t0001g0013 a0002c0008t0001g0041 a0002c0008t0001g0042 |
3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2550+865_2550+866d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068270 | |||||||
chr1:201068278 | C | CTT | 19 | a0001c0009t0001g0001 a0001c0009t0001g0262 a0001c0009t0001g0264 others(16): Show |
22 | HG00558.hp2 HG01070.hp1 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.2550+858_2550+859i others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068278 | |||||||
chr1:201068278 | C | T | 4 | a0001c0013t0001g0007 a0001c0013t0001g0291 a0001c0013t0001g0292 others(1): Show |
5 | HG01081.hp1 HG01123.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.2550+859G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068278 | |||||||
chr1:201068297 | C | T | 1 | a0001c0001t0001g0230 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2550+840G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068297 | |||||||
chr1:201068329 | G | A | 8 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 others(5): Show |
8 | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.2550+808C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068329 | |||||||
chr1:201068353 | C | T | 5 | a0001c0013t0001g0007 a0001c0013t0001g0291 a0001c0013t0001g0292 others(2): Show |
6 | HG00738.hp2 HG01081.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.2550+784G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068353 | |||||||
chr1:201068367 | T | C | 2 | a0001c0001t0001g0098 a0001c0002t0001g0231 |
2 | HG03942.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.2550+770A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068367 | |||||||
chr1:201068374 | T | C | 3 | a0001c0001t0001g0133 a0001c0003t0001g0210 a0001c0003t0002g0306 |
3 | NA18967.hp2 NA19070.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.2550+763A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068374 | |||||||
chr1:201068480 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2550+657A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068480 | |||||||
chr1:201068486 | G | A | 1 | a0002c0010t0001g0215 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2550+651C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068486 | |||||||
chr1:201068512 | G | A | 3 | a0002c0020t0001g0134 a0002c0020t0001g0135 a0003c0005t0001g0280 |
3 | HG02165.hp2 NA19054.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.2550+625C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068512 | |||||||
chr1:201068570 | T | C | 12 | a0001c0004t0001g0040 a0001c0009t0001g0053 a0001c0033t0001g0082 others(9): Show |
12 | HG01891.hp2 HG02055.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.2550+567A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068570 | |||||||
chr1:201068584 | G | C | 106 | a0001c0001t0001g0079 a0001c0001t0001g0151 a0001c0001t0001g0163 others(103): Show |
109 | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(106): Show |
intron_variant | MODIFIER | c.2550+553C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068584 | |||||||
chr1:201068600 | A | C | 1 | a0001c0001t0001g0230 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2550+537T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068600 | |||||||
chr1:201068610 | T | C | 69 | a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0001g0088 others(66): Show |
72 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(69): Show |
intron_variant | MODIFIER | c.2550+527A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068610 | |||||||
chr1:201068638 | T | C | 4 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(1): Show |
4 | HG02055.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2550+499A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068638 | |||||||
chr1:201068643 | T | C | 4 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(1): Show |
4 | HG02055.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.2550+494A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068643 | |||||||
chr1:201068707 | T | C | 3 | a0001c0001t0001g0031 a0001c0001t0001g0128 a0001c0001t0001g0217 |
3 | HG01928.hp2 HG02293.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.2550+430A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068707 | |||||||
chr1:201068740 | CAG | C | 3 | a0001c0009t0001g0186 a0001c0009t0001g0259 a0002c0012t0001g0269 |
3 | HG02717.hp1 HG03453.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2550+395_2550+396d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068740 | |||||||
chr1:201068741 | A | G | 6 | a0001c0033t0001g0082 a0001c0033t0001g0251 a0002c0047t0001g0187 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.2550+396T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068741 | |||||||
chr1:201068830 | C | T | 1 | a0006c0088t0001g0237 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2550+307G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068830 | |||||||
chr1:201068834 | T | C | 207 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(204): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
intron_variant | MODIFIER | c.2550+303A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201068834 | |||||||
chr1:201069120 | C | T | 2 | a0001c0031t0001g0048 a0001c0031t0001g0209 |
2 | HG02074.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.2550+17G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | 201069120 | |||||||
chr1:201069345 | T | C | 4 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 others(1): Show |
4 | HG02559.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2490+127A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/43 | chr1 | 201069345 | |||||||
chr1:201069373 | T | C | 2 | a0001c0003t0001g0006 a0001c0003t0001g0072 |
3 | HG01167.hp2 HG01169.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.2490+99A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 18/43 | chr1 | 201069373 | |||||||
chr1:201069614 | G | A | 4 | a0005c0044t0001g0285 a0005c0052t0001g0185 a0022c0095t0001g0235 others(1): Show |
4 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.2361-13C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/43 | chr1 | 201069614 | |||||||
chr1:201069870 | T | G | 1 | a0001c0017t0001g0107 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2361-269A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/43 | chr1 | 201069870 | |||||||
chr1:201069991 | A | G | 4 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 others(1): Show |
4 | HG02559.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2360+281T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 17/43 | chr1 | 201069991 | |||||||
chr1:201070521 | C | T | 2 | a0003c0005t0001g0136 a0003c0005t0001g0137 |
2 | NA18981.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.2228-117G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070521 | |||||||
chr1:201070752 | G | T | 33 | a0001c0009t0001g0001 a0001c0009t0001g0053 a0001c0009t0001g0186 others(30): Show |
35 | HG01074.hp2 HG01243.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.2228-348C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070752 | |||||||
chr1:201070770 | G | C | 1 | a0001c0001t0001g0241 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2228-366C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070770 | |||||||
chr1:201070785 | C | T | 3 | a0001c0014t0001g0252 a0005c0024t0001g0257 a0005c0024t0002g0300 |
3 | HG01884.hp1 HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2228-381G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201070785 | |||||||
chr1:201071052 | A | G | 262 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(259): Show |
270 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
intron_variant | MODIFIER | c.2228-648T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071052 | |||||||
chr1:201071156 | C | G | 1 | a0001c0001t0001g0270 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.2228-752G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071156 | |||||||
chr1:201071319 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2228-915C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071319 | |||||||
chr1:201071324 | G | A | 1 | a0003c0015t0001g0118 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2228-920C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071324 | |||||||
chr1:201071324 | G | C | 3 | a0002c0008t0001g0013 a0002c0008t0001g0041 a0002c0008t0001g0042 |
3 | HG01891.hp2 HG02970.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2228-920C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071324 | |||||||
chr1:201071366 | C | T | 1 | a0027c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2228-962G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071366 | |||||||
chr1:201071440 | C | T | 1 | a0003c0005t0001g0149 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2228-1036G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071440 | |||||||
chr1:201071618 | A | G | 29 | a0001c0009t0001g0001 a0001c0009t0001g0053 a0001c0009t0001g0186 others(26): Show |
31 | HG01074.hp2 HG01243.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.2227+1137T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071618 | |||||||
chr1:201071727 | G | A | 5 | a0001c0017t0001g0107 a0005c0044t0001g0285 a0005c0052t0001g0185 others(2): Show |
5 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2227+1028C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071727 | |||||||
chr1:201071765 | T | C | 2 | a0002c0045t0001g0219 a0027c0042t0001g0009 |
2 | HG03098.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2227+990A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071765 | |||||||
chr1:201071889 | A | G | 1 | a0001c0001t0001g0004 | 2 | HG02258.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.2227+866T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201071889 | |||||||
chr1:201072064 | T | C | 3 | a0001c0017t0001g0223 a0002c0045t0001g0219 a0002c0072t0001g0265 |
3 | HG01109.hp2 HG02922.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2227+691A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072064 | |||||||
chr1:201072070 | G | A | 26 | a0002c0012t0001g0194 a0002c0074t0001g0249 a0004c0006t0001g0022 others(23): Show |
28 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.2227+685C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072070 | |||||||
chr1:201072113 | T | C | 262 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(259): Show |
270 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
intron_variant | MODIFIER | c.2227+642A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072113 | |||||||
chr1:201072155 | C | T | 1 | a0001c0002t0001g0271 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2227+600G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072155 | |||||||
chr1:201072236 | G | A | 25 | a0002c0012t0001g0194 a0004c0006t0001g0022 a0004c0006t0001g0024 others(22): Show |
27 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.2227+519C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072236 | |||||||
chr1:201072352 | A | G | 230 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(227): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
intron_variant | MODIFIER | c.2227+403T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072352 | |||||||
chr1:201072456 | G | A | 2 | a0001c0017t0001g0223 a0002c0072t0001g0265 |
2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2227+299C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072456 | |||||||
chr1:201072509 | C | G | 2 | a0003c0057t0001g0290 a0006c0055t0001g0289 |
2 | HG00323.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.2227+246G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072509 | |||||||
chr1:201072534 | T | C | 29 | a0001c0009t0001g0001 a0001c0009t0001g0053 a0001c0009t0001g0186 others(26): Show |
31 | HG01074.hp2 HG01243.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.2227+221A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072534 | |||||||
chr1:201072715 | C | A | 1 | a0001c0007t0001g0111 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2227+40G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 16/43 | chr1 | 201072715 | |||||||
chr1:201072928 | T | C | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2158-104A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201072928 | |||||||
chr1:201073025 | C | T | 37 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0143 others(34): Show |
38 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.2158-201G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073025 | |||||||
chr1:201073127 | G | A | 1 | a0001c0001t0001g0201 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2158-303C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073127 | |||||||
chr1:201073140 | C | T | 37 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0143 others(34): Show |
38 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.2158-316G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073140 | |||||||
chr1:201073186 | T | A | 1 | a0001c0001t0001g0151 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2158-362A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073186 | |||||||
chr1:201073198 | T | C | 225 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(222): Show |
231 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
intron_variant | MODIFIER | c.2157+351A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073198 | |||||||
chr1:201073247 | G | A | 1 | a0024c0065t0001g0113 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2157+302C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073247 | |||||||
chr1:201073316 | C | T | 2 | a0010c0039t0001g0045 a0010c0039t0002g0297 |
2 | HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.2157+233G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073316 | |||||||
chr1:201073348 | TCTG | T | 225 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(222): Show |
231 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
intron_variant | MODIFIER | c.2157+198_2157+200d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073348 | |||||||
chr1:201073490 | G | A | 193 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(190): Show |
197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2157+59C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | 201073490 | |||||||
chr1:201073828 | G | A | 1 | a0005c0052t0001g0185 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2064-186C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201073828 | |||||||
chr1:201073855 | G | A | 138 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(135): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.2064-213C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201073855 | |||||||
chr1:201073888 | T | C | 1 | a0001c0001t0001g0150 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2064-246A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201073888 | |||||||
chr1:201074019 | C | T | 1 | a0001c0001t0001g0140 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.2064-377G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074019 | |||||||
chr1:201074076 | G | A | 5 | a0001c0017t0001g0107 a0005c0044t0001g0285 a0005c0052t0001g0185 others(2): Show |
5 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2063+430C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074076 | |||||||
chr1:201074173 | C | T | 195 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(192): Show |
199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.2063+333G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074173 | |||||||
chr1:201074174 | GC | G | 24 | a0002c0012t0001g0194 a0004c0006t0001g0022 a0004c0006t0001g0024 others(21): Show |
26 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.2063+331delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074174 | |||||||
chr1:201074181 | G | A | 1 | a0001c0001t0001g0146 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2063+325C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074181 | |||||||
chr1:201074188 | C | T | 54 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0143 others(51): Show |
56 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.2063+318G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074188 | |||||||
chr1:201074231 | C | T | 3 | a0001c0009t0001g0262 a0005c0078t0001g0226 a0010c0077t0001g0010 |
3 | HG01243.hp1 HG03209.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2063+275G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074231 | |||||||
chr1:201074253 | G | A | 3 | a0001c0014t0001g0252 a0005c0024t0001g0257 a0005c0024t0002g0300 |
3 | HG01884.hp1 HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.2063+253C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074253 | |||||||
chr1:201074463 | C | T | 2 | a0001c0017t0001g0223 a0002c0072t0001g0265 |
2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2063+43G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074463 | |||||||
chr1:201074499 | C | A | 1 | a0018c0076t0001g0087 | 1 | HG00280.hp1 | splice_region_variant&intron_variant | LOW | c.2063+7G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 14/43 | chr1 | 201074499 | |||||||
chr1:201074717 | ACT | A | 230 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(227): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
intron_variant | MODIFIER | c.1949-99_1949-98del others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201074717 | |||||||
chr1:201074969 | T | C | 229 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(226): Show |
235 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
intron_variant | MODIFIER | c.1949-349A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201074969 | |||||||
chr1:201075135 | T | A | 2 | a0001c0050t0001g0233 a0001c0079t0001g0268 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1948+360A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075135 | |||||||
chr1:201075175 | G | A | 27 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0032 others(24): Show |
27 | HG00609.hp1 HG01243.hp2 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.1948+320C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075175 | |||||||
chr1:201075216 | C | T | 195 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(192): Show |
199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.1948+279G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075216 | |||||||
chr1:201075267 | GCTGTAGC others(9): Show |
G | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1948+212_1948+227d others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 13/43 | chr1 | 201075267 | |||||||
chr1:201075620 | A | G | 230 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(227): Show |
236 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
splice_region_variant&intron_variant | LOW | c.1828-5T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075620 | |||||||
chr1:201075669 | C | G | 2 | a0001c0017t0001g0223 a0002c0072t0001g0265 |
2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1828-54G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075669 | |||||||
chr1:201075672 | T | C | 4 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 others(1): Show |
4 | HG02559.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1828-57A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075672 | |||||||
chr1:201075865 | C | T | 1 | a0036c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1828-250G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075865 | |||||||
chr1:201075984 | C | T | 2 | a0002c0020t0001g0134 a0002c0020t0001g0135 |
2 | NA19054.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.1828-369G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201075984 | |||||||
chr1:201076015 | C | T | 1 | a0001c0026t0001g0065 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1828-400G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076015 | |||||||
chr1:201076208 | C | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1828-593G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076208 | |||||||
chr1:201076345 | A | G | 141 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(138): Show |
143 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show |
intron_variant | MODIFIER | c.1827+575T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076345 | |||||||
chr1:201076377 | T | C | 1 | a0001c0002t0001g0231 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1827+543A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076377 | |||||||
chr1:201076397 | C | T | 28 | a0001c0050t0001g0233 a0001c0079t0001g0268 a0002c0012t0001g0194 others(25): Show |
30 | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.1827+523G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076397 | |||||||
chr1:201076398 | G | A | 141 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(138): Show |
143 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show |
intron_variant | MODIFIER | c.1827+522C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076398 | |||||||
chr1:201076482 | A | G | 1 | a0001c0003t0001g0153 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1827+438T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076482 | |||||||
chr1:201076528 | G | A | 2 | a0001c0009t0001g0259 a0002c0012t0001g0269 |
2 | HG02717.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1827+392C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076528 | |||||||
chr1:201076601 | C | T | 1 | a0001c0001t0001g0132 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1827+319G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076601 | |||||||
chr1:201076613 | C | T | 4 | a0005c0044t0001g0285 a0005c0052t0001g0185 a0022c0095t0001g0235 others(1): Show |
4 | HG02258.hp2 HG02630.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.1827+307G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076613 | |||||||
chr1:201076897 | G | T | 11 | a0001c0013t0001g0007 a0001c0013t0001g0291 a0001c0013t0001g0292 others(8): Show |
12 | HG01081.hp1 HG01123.hp1 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.1827+23C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 12/43 | chr1 | 201076897 | |||||||
chr1:201077149 | G | A | 2 | a0014c0032t0001g0266 a0014c0032t0001g0267 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1620-22C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077149 | |||||||
chr1:201077154 | G | A | 2 | a0001c0017t0001g0223 a0002c0072t0001g0265 |
2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1620-27C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077154 | |||||||
chr1:201077201 | G | GGGGGAAA others(33): Show |
1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1620-75_1620-74ins others(40): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077201 | |||||||
chr1:201077251 | T | G | 209 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(206): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
intron_variant | MODIFIER | c.1620-124A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077251 | |||||||
chr1:201077260 | A | G | 263 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(260): Show |
271 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
intron_variant | MODIFIER | c.1620-133T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077260 | |||||||
chr1:201077416 | C | T | 9 | a0001c0009t0001g0186 a0001c0009t0001g0259 a0002c0012t0001g0256 others(6): Show |
9 | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1620-289G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077416 | |||||||
chr1:201077446 | A | G | 2 | a0001c0050t0001g0233 a0001c0079t0001g0268 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1620-319T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077446 | |||||||
chr1:201077520 | C | G | 3 | a0001c0004t0001g0108 a0030c0053t0001g0066 a0033c0040t0001g0008 |
3 | NA18956.hp2 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1619+359G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077520 | |||||||
chr1:201077631 | C | T | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1619+248G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077631 | |||||||
chr1:201077819 | C | T | 4 | a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 others(1): Show |
4 | HG02280.hp1 HG02559.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.1619+60G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 11/43 | chr1 | 201077819 | |||||||
chr1:201078218 | C | A | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-114G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078218 | |||||||
chr1:201078294 | A | T | 4 | a0015c0027t0001g0181 a0015c0027t0001g0182 a0025c0061t0001g0190 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1394-190T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078294 | |||||||
chr1:201078447 | G | C | 1 | a0003c0005t0001g0280 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1394-343C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078447 | |||||||
chr1:201078517 | C | CA | 20 | a0004c0006t0001g0024 a0004c0006t0001g0026 a0004c0006t0001g0060 others(17): Show |
22 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(19): Show |
intron_variant | MODIFIER | c.1394-414dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | |||||||
chr1:201078517 | CA | C | 8 | a0001c0017t0001g0223 a0002c0047t0001g0187 a0002c0048t0001g0234 others(5): Show |
8 | HG01109.hp2 HG02109.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1394-414delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | |||||||
chr1:201078517 | CAA | C | 39 | a0001c0001t0001g0240 a0001c0003t0001g0006 a0001c0003t0001g0072 others(36): Show |
40 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(37): Show |
intron_variant | MODIFIER | c.1394-415_1394-414d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | |||||||
chr1:201078517 | CAAA | C | 166 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(163): Show |
170 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.1394-416_1394-414d others(5): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | |||||||
chr1:201078517 | CAAAA | C | 45 | a0001c0001t0001g0031 a0001c0001t0001g0180 a0001c0001t0001g0183 others(42): Show |
45 | HG00738.hp1 HG01070.hp2 HG01243.hp1 others(42): Show |
intron_variant | MODIFIER | c.1394-417_1394-414d others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | |||||||
chr1:201078517 | CAAAAA | C | 14 | a0001c0004t0001g0029 a0001c0004t0001g0071 a0001c0004t0001g0157 others(11): Show |
15 | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1394-418_1394-414d others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078517 | |||||||
chr1:201078633 | A | G | 1 | a0003c0015t0001g0091 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1394-529T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078633 | |||||||
chr1:201078646 | C | T | 55 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(52): Show |
56 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(53): Show |
intron_variant | MODIFIER | c.1394-542G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078646 | |||||||
chr1:201078648 | C | T | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-544G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078648 | |||||||
chr1:201078649 | T | C | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-545A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078649 | |||||||
chr1:201078721 | C | T | 2 | a0001c0001t0001g0198 a0001c0007t0001g0142 |
2 | NA18612.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.1394-617G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078721 | |||||||
chr1:201078760 | G | A | 165 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(162): Show |
169 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(166): Show |
intron_variant | MODIFIER | c.1394-656C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078760 | |||||||
chr1:201078813 | A | C | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-709T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078813 | |||||||
chr1:201078845 | G | A | 1 | a0001c0009t0001g0053 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1394-741C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078845 | |||||||
chr1:201078888 | C | T | 10 | a0001c0013t0001g0007 a0001c0013t0001g0291 a0001c0013t0001g0292 others(7): Show |
11 | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-784G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078888 | |||||||
chr1:201078893 | C | T | 1 | a0036c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1394-789G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201078893 | |||||||
chr1:201079036 | G | A | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-932C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079036 | |||||||
chr1:201079119 | C | CA | 155 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(152): Show |
159 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show |
intron_variant | MODIFIER | c.1394-1016dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079119 | |||||||
chr1:201079119 | C | CAA | 16 | a0001c0001t0001g0133 a0001c0001t0001g0281 a0001c0007t0001g0062 others(13): Show |
16 | HG00280.hp2 HG00558.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.1394-1017_1394-101 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079119 | |||||||
chr1:201079133 | C | A | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-1029G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079133 | |||||||
chr1:201079137 | A | G | 55 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(52): Show |
56 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(53): Show |
intron_variant | MODIFIER | c.1394-1033T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079137 | |||||||
chr1:201079157 | T | G | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1394-1053A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079157 | |||||||
chr1:201079206 | T | C | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1102A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079206 | |||||||
chr1:201079207 | C | T | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1103G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079207 | |||||||
chr1:201079318 | C | G | 2 | a0001c0007t0001g0162 a0001c0016t0001g0152 |
2 | NA18612.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.1394-1214G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079318 | |||||||
chr1:201079447 | G | C | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1343C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079447 | |||||||
chr1:201079448 | C | G | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1344G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079448 | |||||||
chr1:201079485 | T | C | 42 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(39): Show |
43 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.1394-1381A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079485 | |||||||
chr1:201079516 | C | G | 1 | a0021c0096t0001g0037 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1394-1412G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079516 | |||||||
chr1:201079554 | T | C | 297 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(294): Show |
305 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
intron_variant | MODIFIER | c.1394-1450A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079554 | |||||||
chr1:201079579 | CTG | C | 221 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(218): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(223): Show |
intron_variant | MODIFIER | c.1394-1477_1394-147 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079579 | |||||||
chr1:201079670 | C | T | 1 | a0001c0083t0001g0101 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1394-1566G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079670 | |||||||
chr1:201079726 | G | T | 1 | a0001c0001t0002g0303 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1394-1622C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079726 | |||||||
chr1:201079780 | C | G | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1394-1676G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079780 | |||||||
chr1:201079802 | GGTAGAAC others(25): Show |
G | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1394-1730_1394-169 others(36): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079802 | |||||||
chr1:201079811 | C | G | 1 | a0001c0001t0001g0069 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1394-1707G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201079811 | |||||||
chr1:201080012 | G | T | 1 | a0001c0073t0001g0046 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1394-1908C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080012 | |||||||
chr1:201080158 | G | A | 7 | a0002c0045t0001g0219 a0002c0047t0001g0187 a0002c0048t0001g0234 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1394-2054C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080158 | |||||||
chr1:201080192 | T | C | 280 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(277): Show |
288 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
intron_variant | MODIFIER | c.1394-2088A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080192 | |||||||
chr1:201080193 | G | A | 6 | a0001c0001t0001g0247 a0001c0003t0001g0125 a0001c0017t0001g0047 others(3): Show |
6 | HG01978.hp1 HG02071.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1394-2089C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080193 | |||||||
chr1:201080308 | A | T | 36 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(33): Show |
37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1394-2204T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080308 | |||||||
chr1:201080730 | C | A | 1 | a0001c0002t0001g0178 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1393+2432G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080730 | |||||||
chr1:201080731 | A | AG | 59 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(56): Show |
62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+2430dupC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080731 | |||||||
chr1:201080739 | T | G | 137 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(134): Show |
139 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.1393+2423A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080739 | |||||||
chr1:201080741 | T | G | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+2421A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080741 | |||||||
chr1:201080779 | C | G | 36 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(33): Show |
37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+2383G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080779 | |||||||
chr1:201080918 | C | T | 221 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(218): Show |
226 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(223): Show |
intron_variant | MODIFIER | c.1393+2244G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201080918 | |||||||
chr1:201081105 | A | C | 280 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(277): Show |
288 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
intron_variant | MODIFIER | c.1393+2057T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081105 | |||||||
chr1:201081156 | C | T | 59 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(56): Show |
62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+2006G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081156 | |||||||
chr1:201081164 | T | C | 59 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(56): Show |
62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+1998A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081164 | |||||||
chr1:201081165 | C | T | 2 | a0001c0050t0001g0233 a0001c0079t0001g0268 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1393+1997G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081165 | |||||||
chr1:201081169 | G | A | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+1993C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081169 | |||||||
chr1:201081217 | A | G | 1 | a0001c0073t0001g0046 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1393+1945T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081217 | |||||||
chr1:201081236 | C | T | 59 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(56): Show |
62 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.1393+1926G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081236 | |||||||
chr1:201081344 | T | C | 1 | a0002c0058t0001g0103 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1393+1818A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081344 | |||||||
chr1:201081403 | C | T | 8 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0033t0001g0082 others(5): Show |
10 | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(7): Show |
intron_variant | MODIFIER | c.1393+1759G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081403 | |||||||
chr1:201081432 | C | G | 1 | a0001c0001t0001g0116 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1393+1730G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081432 | |||||||
chr1:201081440 | A | G | 36 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(33): Show |
37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+1722T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081440 | |||||||
chr1:201081472 | G | A | 4 | a0008c0018t0001g0189 a0009c0019t0001g0164 a0009c0019t0001g0188 others(1): Show |
4 | HG02055.hp1 HG02809.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393+1690C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081472 | |||||||
chr1:201081495 | G | A | 2 | a0005c0078t0001g0226 a0010c0077t0001g0010 |
2 | HG03209.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1393+1667C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081495 | |||||||
chr1:201081639 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1393+1523G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081639 | |||||||
chr1:201081640 | G | A | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1393+1522C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081640 | |||||||
chr1:201081680 | T | C | 1 | a0002c0008t0001g0038 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1393+1482A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081680 | |||||||
chr1:201081709 | T | TG | 37 | a0001c0001t0001g0114 a0001c0003t0001g0006 a0001c0003t0001g0072 others(34): Show |
38 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.1393+1452dupC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081709 | |||||||
chr1:201081710 | G | C | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1393+1452C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081710 | |||||||
chr1:201081715 | G | T | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+1447C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081715 | |||||||
chr1:201081716 | T | C | 2 | a0001c0007t0002g0302 a0001c0016t0002g0301 |
2 | HG02040.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.1393+1446A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081716 | |||||||
chr1:201081904 | C | T | 61 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(58): Show |
64 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.1393+1258G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081904 | |||||||
chr1:201081969 | C | G | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+1193G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201081969 | |||||||
chr1:201082029 | A | AT | 144 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(141): Show |
146 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.1393+1132dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | |||||||
chr1:201082029 | A | ATT | 35 | a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0133 others(32): Show |
37 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+1131_1393+113 others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | |||||||
chr1:201082029 | A | ATTTTTT | 27 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(24): Show |
28 | HG00558.hp2 HG01071.hp1 HG01167.hp2 others(25): Show |
intron_variant | MODIFIER | c.1393+1127_1393+113 others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | |||||||
chr1:201082029 | A | ATTTTTTT | 6 | a0001c0003t0001g0159 a0001c0003t0001g0210 a0001c0003t0002g0306 others(3): Show |
6 | HG00544.hp2 HG01978.hp2 HG02056.hp1 others(3): Show |
intron_variant | MODIFIER | c.1393+1126_1393+113 others(11): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082029 | |||||||
chr1:201082060 | C | T | 1 | a0005c0046t0001g0255 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1393+1102G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082060 | |||||||
chr1:201082119 | T | C | 36 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(33): Show |
37 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.1393+1043A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082119 | |||||||
chr1:201082169 | C | T | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+993G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082169 | |||||||
chr1:201082260 | C | T | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+902G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082260 | |||||||
chr1:201082290 | C | G | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+872G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082290 | |||||||
chr1:201082292 | G | A | 30 | a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 others(27): Show |
30 | HG00544.hp2 HG00597.hp1 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.1393+870C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082292 | |||||||
chr1:201082318 | C | T | 1 | a0028c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1393+844G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082318 | |||||||
chr1:201082333 | A | AT | 148 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(145): Show |
150 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(147): Show |
intron_variant | MODIFIER | c.1393+828dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082333 | |||||||
chr1:201082420 | G | T | 3 | a0003c0005t0001g0110 a0003c0005t0001g0130 a0003c0005t0001g0161 |
3 | HG00735.hp1 HG01433.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1393+742C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082420 | |||||||
chr1:201082454 | A | T | 286 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(283): Show |
294 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
intron_variant | MODIFIER | c.1393+708T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082454 | |||||||
chr1:201082470 | T | C | 1 | a0003c0015t0001g0118 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1393+692A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082470 | |||||||
chr1:201082516 | C | G | 1 | a0007c0036t0001g0244 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1393+646G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082516 | |||||||
chr1:201082722 | C | A | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+440G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082722 | |||||||
chr1:201082774 | C | T | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1393+388G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082774 | |||||||
chr1:201082777 | T | C | 6 | a0001c0009t0001g0262 a0002c0012t0001g0245 a0002c0023t0001g0227 others(3): Show |
6 | HG01243.hp1 HG02818.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.1393+385A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082777 | |||||||
chr1:201082929 | C | T | 1 | a0005c0052t0001g0185 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1393+233G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082929 | |||||||
chr1:201082936 | G | A | 1 | a0027c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1393+226C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082936 | |||||||
chr1:201082985 | C | T | 2 | a0001c0050t0001g0233 a0001c0079t0001g0268 |
2 | HG02818.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1393+177G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201082985 | |||||||
chr1:201083071 | T | C | 53 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(50): Show |
54 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(51): Show |
intron_variant | MODIFIER | c.1393+91A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201083071 | |||||||
chr1:201083155 | G | A | 26 | a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 others(23): Show |
26 | HG00544.hp2 HG00597.hp1 HG01069.hp1 others(23): Show |
splice_region_variant&intron_variant | LOW | c.1393+7C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | 201083155 | |||||||
chr1:201083346 | T | C | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1233-24A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083346 | |||||||
chr1:201083434 | G | T | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1233-112C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083434 | |||||||
chr1:201083466 | C | T | 1 | a0001c0002t0001g0214 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1233-144G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083466 | |||||||
chr1:201083512 | G | A | 259 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(256): Show |
265 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(262): Show |
intron_variant | MODIFIER | c.1233-190C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083512 | |||||||
chr1:201083555 | C | T | 6 | a0001c0001t0001g0133 a0001c0001t0001g0278 a0001c0001t0001g0279 others(3): Show |
6 | HG02074.hp2 HG02165.hp1 HG03927.hp2 others(3): Show |
intron_variant | MODIFIER | c.1233-233G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083555 | |||||||
chr1:201083593 | C | T | 2 | a0001c0017t0001g0107 a0027c0042t0001g0009 |
2 | HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1233-271G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083593 | |||||||
chr1:201083615 | G | A | 23 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(20): Show |
25 | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.1233-293C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083615 | |||||||
chr1:201083755 | A | C | 7 | a0002c0045t0001g0219 a0002c0047t0001g0187 a0002c0048t0001g0234 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1233-433T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083755 | |||||||
chr1:201083776 | T | C | 42 | a0001c0003t0001g0006 a0001c0003t0001g0072 a0001c0003t0001g0125 others(39): Show |
43 | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.1233-454A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083776 | |||||||
chr1:201083879 | G | A | 3 | a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0070t0001g0120 |
3 | HG02723.hp2 HG02896.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1233-557C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083879 | |||||||
chr1:201083913 | C | G | 6 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0033t0001g0082 others(3): Show |
8 | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(5): Show |
intron_variant | MODIFIER | c.1233-591G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083913 | |||||||
chr1:201083991 | C | G | 1 | a0001c0003t0001g0153 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1233-669G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083991 | |||||||
chr1:201083995 | A | C | 1 | a0004c0043t0001g0287 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1233-673T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201083995 | |||||||
chr1:201084203 | C | T | 2 | a0003c0057t0001g0290 a0006c0055t0001g0289 |
2 | HG00323.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1232+747G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084203 | |||||||
chr1:201084218 | C | T | 1 | a0006c0066t0001g0196 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1232+732G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084218 | |||||||
chr1:201084304 | G | A | 1 | a0001c0004t0001g0025 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1232+646C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084304 | |||||||
chr1:201084410 | T | G | 2 | a0001c0001t0001g0080 a0001c0001t0001g0090 |
2 | HG00099.hp1 HG00639.hp2 |
intron_variant | MODIFIER | c.1232+540A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084410 | |||||||
chr1:201084569 | G | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1232+381C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 9/43 | chr1 | 201084569 | |||||||
chr1:201085069 | G | T | 35 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(32): Show |
35 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(32): Show |
intron_variant | MODIFIER | c.1151-38C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085069 | |||||||
chr1:201085192 | T | C | 1 | a0005c0022t0003g0258 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1151-161A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085192 | |||||||
chr1:201085226 | G | T | 2 | a0002c0058t0001g0103 a0026c0060t0001g0175 |
2 | HG02257.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1151-195C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085226 | |||||||
chr1:201085342 | T | C | 2 | a0001c0017t0001g0223 a0002c0072t0001g0265 |
2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1150+94A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 8/43 | chr1 | 201085342 | |||||||
chr1:201085610 | G | A | 10 | a0001c0002t0001g0148 a0001c0002t0001g0214 a0001c0038t0001g0096 others(7): Show |
10 | HG00621.hp2 HG02015.hp1 HG02165.hp2 others(7): Show |
intron_variant | MODIFIER | c.1005-29C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201085610 | |||||||
chr1:201085837 | C | T | 1 | a0003c0015t0001g0078 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1005-256G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201085837 | |||||||
chr1:201086063 | AG | A | 6 | a0001c0001t0001g0163 a0001c0001t0001g0239 a0001c0063t0001g0193 others(3): Show |
6 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(3): Show |
intron_variant | MODIFIER | c.1005-483delC | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086063 | |||||||
chr1:201086279 | G | T | 2 | a0001c0002t0001g0115 a0001c0002t0001g0276 |
2 | HG03688.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1005-698C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086279 | |||||||
chr1:201086457 | C | T | 6 | a0001c0017t0001g0107 a0001c0073t0001g0046 a0002c0008t0001g0218 others(3): Show |
6 | HG02257.hp2 HG02280.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1005-876G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086457 | |||||||
chr1:201086549 | T | C | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1005-968A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086549 | |||||||
chr1:201086556 | G | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1005-975C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086556 | |||||||
chr1:201086801 | T | C | 19 | a0001c0001t0001g0017 a0001c0001t0001g0248 a0001c0013t0001g0007 others(16): Show |
20 | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(17): Show |
intron_variant | MODIFIER | c.1004+1025A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201086801 | |||||||
chr1:201087020 | G | A | 1 | a0002c0008t0001g0038 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1004+806C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087020 | |||||||
chr1:201087110 | C | G | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1004+716G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087110 | |||||||
chr1:201087126 | A | C | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1004+700T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087126 | |||||||
chr1:201087433 | C | A | 3 | a0001c0017t0001g0223 a0002c0072t0001g0265 a0006c0071t0001g0039 |
3 | HG01109.hp2 HG02559.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1004+393G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087433 | |||||||
chr1:201087531 | G | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1004+295C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087531 | |||||||
chr1:201087621 | T | C | 2 | a0001c0001t0001g0017 a0004c0043t0001g0287 |
2 | HG01346.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.1004+205A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087621 | |||||||
chr1:201087734 | C | T | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0032 others(6): Show |
9 | HG01243.hp2 HG01255.hp2 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.1004+92G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 7/43 | chr1 | 201087734 | |||||||
chr1:201087993 | C | T | 5 | a0001c0004t0001g0040 a0001c0017t0001g0223 a0002c0072t0001g0265 others(2): Show |
5 | HG01109.hp2 HG02559.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.901-64G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201087993 | |||||||
chr1:201088019 | G | A | 7 | a0001c0009t0001g0186 a0002c0047t0001g0187 a0008c0018t0001g0189 others(4): Show |
7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.901-90C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088019 | |||||||
chr1:201088078 | G | C | 1 | a0027c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.901-149C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088078 | |||||||
chr1:201088167 | G | T | 1 | a0001c0007t0001g0283 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.901-238C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088167 | |||||||
chr1:201088278 | C | G | 5 | a0001c0003t0001g0145 a0001c0003t0001g0159 a0001c0003t0001g0160 others(2): Show |
5 | NA18947.hp2 NA18950.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.901-349G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088278 | |||||||
chr1:201088301 | C | T | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.901-372G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088301 | |||||||
chr1:201088682 | C | T | 1 | a0001c0002t0001g0271 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.900+576G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088682 | |||||||
chr1:201088930 | G | A | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.900+328C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088930 | |||||||
chr1:201088970 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.900+288C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201088970 | |||||||
chr1:201089244 | G | A | 1 | a0001c0009t0001g0001 | 3 | HG02451.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.900+14C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 6/43 | chr1 | 201089244 | |||||||
chr1:201089564 | T | C | 152 | a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0002t0001g0003 others(149): Show |
159 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(156): Show |
intron_variant | MODIFIER | c.695-101A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201089564 | |||||||
chr1:201089795 | C | A | 7 | a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0159 others(4): Show |
7 | NA18947.hp2 NA18950.hp1 NA18962.hp1 others(4): Show |
intron_variant | MODIFIER | c.695-332G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201089795 | |||||||
chr1:201089956 | A | G | 198 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(195): Show |
205 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
intron_variant | MODIFIER | c.695-493T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201089956 | |||||||
chr1:201090141 | T | C | 1 | a0001c0003t0001g0006 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.695-678A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090141 | |||||||
chr1:201090353 | A | T | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.695-890T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090353 | |||||||
chr1:201090367 | G | C | 106 | a0001c0001t0001g0240 a0001c0002t0001g0003 a0001c0002t0001g0028 others(103): Show |
112 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(109): Show |
intron_variant | MODIFIER | c.695-904C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090367 | |||||||
chr1:201090392 | G | A | 3 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0036c0069t0001g0081 |
5 | HG02451.hp1 HG02970.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.695-929C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090392 | |||||||
chr1:201090501 | G | A | 1 | a0001c0001t0001g0241 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.695-1038C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090501 | |||||||
chr1:201090659 | A | G | 51 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(48): Show |
51 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.694+981T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090659 | |||||||
chr1:201090662 | G | A | 1 | a0001c0001t0001g0230 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.694+978C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090662 | |||||||
chr1:201090688 | A | G | 4 | a0001c0014t0001g0252 a0001c0017t0001g0047 a0001c0017t0001g0052 others(1): Show |
4 | HG01884.hp1 HG02723.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.694+952T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090688 | |||||||
chr1:201090702 | G | A | 9 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(6): Show |
9 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(6): Show |
intron_variant | MODIFIER | c.694+938C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090702 | |||||||
chr1:201090923 | A | G | 39 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(36): Show |
39 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.694+717T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090923 | |||||||
chr1:201090965 | A | G | 2 | a0004c0006t0001g0089 a0004c0006t0001g0205 |
2 | HG00140.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.694+675T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201090965 | |||||||
chr1:201091089 | A | G | 5 | a0001c0009t0001g0053 a0006c0071t0001g0039 a0015c0027t0001g0181 others(2): Show |
5 | HG02559.hp1 HG02647.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.694+551T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091089 | |||||||
chr1:201091191 | A | G | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.694+449T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091191 | |||||||
chr1:201091223 | T | C | 3 | a0001c0001t0001g0057 a0001c0001t0001g0109 a0030c0053t0001g0066 |
3 | NA18956.hp2 NA19081.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.694+417A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091223 | |||||||
chr1:201091366 | G | A | 1 | a0001c0002t0001g0050 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.694+274C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091366 | |||||||
chr1:201091396 | G | GT | 3 | a0001c0004t0001g0108 a0001c0009t0001g0262 a0033c0040t0001g0008 |
3 | HG01243.hp1 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.694+243_694+244ins others(1): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091396 | |||||||
chr1:201091397 | C | G | 3 | a0001c0004t0001g0108 a0001c0009t0001g0262 a0033c0040t0001g0008 |
3 | HG01243.hp1 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.694+243G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091397 | |||||||
chr1:201091398 | A | AGG | 42 | a0001c0004t0001g0018 a0001c0004t0001g0029 a0001c0004t0001g0059 others(39): Show |
42 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.694+240_694+241dup others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091398 | |||||||
chr1:201091398 | A | G | 3 | a0001c0004t0001g0108 a0001c0009t0001g0262 a0033c0040t0001g0008 |
3 | HG01243.hp1 NA19065.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.694+242T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091398 | |||||||
chr1:201091538 | C | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.694+102G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 5/43 | chr1 | 201091538 | |||||||
chr1:201092242 | C | T | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.399-128G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092242 | |||||||
chr1:201092259 | A | T | 9 | a0001c0002t0001g0028 a0003c0005t0001g0073 a0003c0005t0001g0110 others(6): Show |
9 | HG00280.hp2 HG00735.hp1 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.399-145T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092259 | |||||||
chr1:201092262 | T | G | 1 | a0036c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.399-148A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092262 | |||||||
chr1:201092327 | T | C | 2 | a0001c0001t0001g0017 a0003c0015t0001g0078 |
2 | HG00621.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.399-213A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092327 | |||||||
chr1:201092362 | T | G | 1 | a0001c0004t0001g0123 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.399-248A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092362 | |||||||
chr1:201092376 | G | A | 2 | a0001c0001t0001g0168 a0001c0001t0001g0270 |
2 | HG00438.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.399-262C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092376 | |||||||
chr1:201092385 | G | C | 2 | a0003c0005t0001g0149 a0003c0005t0001g0191 |
2 | HG02735.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.399-271C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092385 | |||||||
chr1:201092466 | T | C | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.399-352A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092466 | |||||||
chr1:201092542 | C | T | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.399-428G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092542 | |||||||
chr1:201092551 | T | G | 2 | a0001c0009t0001g0001 a0001c0009t0001g0264 |
4 | HG02451.hp1 HG02970.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.399-437A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092551 | |||||||
chr1:201092649 | G | A | 63 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0057 others(60): Show |
65 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(62): Show |
intron_variant | MODIFIER | c.399-535C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092649 | |||||||
chr1:201092669 | A | G | 2 | a0001c0017t0001g0223 a0002c0072t0001g0265 |
2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.399-555T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092669 | |||||||
chr1:201092673 | C | A | 1 | a0002c0010t0001g0173 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.399-559G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092673 | |||||||
chr1:201092690 | C | G | 160 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(157): Show |
164 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.399-576G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092690 | |||||||
chr1:201092858 | G | A | 1 | a0027c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.399-744C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092858 | |||||||
chr1:201092863 | T | C | 6 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(3): Show |
6 | HG02258.hp2 HG02809.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.399-749A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201092863 | |||||||
chr1:201093036 | G | A | 232 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(229): Show |
240 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
intron_variant | MODIFIER | c.398+846C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093036 | |||||||
chr1:201093109 | T | C | 1 | a0002c0010t0001g0173 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.398+773A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093109 | |||||||
chr1:201093137 | C | A | 40 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(37): Show |
40 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(37): Show |
intron_variant | MODIFIER | c.398+745G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093137 | |||||||
chr1:201093202 | G | A | 4 | a0004c0006t0001g0060 a0007c0036t0001g0286 a0012c0037t0001g0086 others(1): Show |
5 | HG01106.hp2 HG01516.hp1 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.398+680C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093202 | |||||||
chr1:201093203 | G | C | 7 | a0001c0009t0001g0186 a0002c0047t0001g0187 a0008c0018t0001g0189 others(4): Show |
7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.398+679C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093203 | |||||||
chr1:201093272 | C | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.398+610G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093272 | |||||||
chr1:201093458 | C | A | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.398+424G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093458 | |||||||
chr1:201093470 | G | A | 1 | a0001c0002t0001g0003 | 2 | HG01496.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.398+412C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093470 | |||||||
chr1:201093679 | G | A | 5 | a0001c0002t0001g0141 a0001c0003t0001g0144 a0001c0003t0001g0210 others(2): Show |
5 | HG00597.hp1 NA18960.hp2 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.398+203C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093679 | |||||||
chr1:201093733 | T | C | 7 | a0001c0004t0001g0040 a0001c0009t0001g0001 a0001c0009t0001g0264 others(4): Show |
9 | HG02451.hp1 HG02615.hp2 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.398+149A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093733 | |||||||
chr1:201093734 | G | A | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.398+148C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093734 | |||||||
chr1:201093739 | G | A | 1 | a0001c0003t0001g0288 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.398+143C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093739 | |||||||
chr1:201093842 | C | T | 1 | a0003c0005t0002g0304 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.398+40G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093842 | |||||||
chr1:201093844 | A | G | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.398+38T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3/43 | chr1 | 201093844 | |||||||
chr1:201094064 | G | A | 1 | a0001c0014t0001g0252 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.259-43C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094064 | |||||||
chr1:201094120 | G | T | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-99C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094120 | |||||||
chr1:201094443 | AT | A | 6 | a0001c0009t0001g0262 a0002c0023t0001g0227 a0002c0023t0002g0299 others(3): Show |
6 | HG01243.hp1 HG02630.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.259-423delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094443 | |||||||
chr1:201094460 | C | T | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.259-439G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094460 | |||||||
chr1:201094510 | C | A | 8 | a0001c0009t0001g0186 a0002c0045t0001g0219 a0002c0047t0001g0187 others(5): Show |
8 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.259-489G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094510 | |||||||
chr1:201094590 | G | T | 1 | a0003c0005t0001g0073 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.259-569C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094590 | |||||||
chr1:201094614 | T | A | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.259-593A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094614 | |||||||
chr1:201094626 | C | T | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-605G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094626 | |||||||
chr1:201094722 | C | A | 16 | a0001c0009t0001g0259 a0001c0033t0001g0082 a0001c0033t0001g0251 others(13): Show |
16 | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.259-701G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094722 | |||||||
chr1:201094774 | A | G | 1 | a0001c0001t0001g0109 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.259-753T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094774 | |||||||
chr1:201094841 | A | C | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-820T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094841 | |||||||
chr1:201094897 | C | A | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-876G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094897 | |||||||
chr1:201094979 | C | T | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.259-958G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201094979 | |||||||
chr1:201095060 | C | T | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1039G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095060 | |||||||
chr1:201095121 | G | GGT | 7 | a0001c0002t0001g0104 a0001c0004t0001g0123 a0001c0014t0001g0252 others(4): Show |
7 | HG01884.hp1 HG02080.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-1102_259-1101d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | |||||||
chr1:201095121 | G | GGTGT | 12 | a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 others(9): Show |
12 | HG00735.hp2 HG01106.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.259-1104_259-1101d others(6): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | |||||||
chr1:201095121 | G | GGTGTGT | 95 | a0001c0001t0001g0240 a0001c0002t0001g0003 a0001c0002t0001g0028 others(92): Show |
99 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show |
intron_variant | MODIFIER | c.259-1106_259-1101d others(8): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | |||||||
chr1:201095121 | G | GGTGTGTG others(1): Show |
51 | a0001c0001t0001g0163 a0001c0001t0001g0239 a0001c0004t0001g0018 others(48): Show |
51 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.259-1108_259-1101d others(10): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | |||||||
chr1:201095121 | G | GGTGTGTG others(3): Show |
1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.259-1110_259-1101d others(12): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095121 | |||||||
chr1:201095157 | CAT | C | 3 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0025t0001g0236 |
5 | HG02148.hp2 HG02451.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.259-1138_259-1137d others(4): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095157 | |||||||
chr1:201095158 | ATATATAT others(27): Show |
A | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1171_259-1138d others(36): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095158 | |||||||
chr1:201095211 | T | C | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1190A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095211 | |||||||
chr1:201095296 | C | T | 1 | a0001c0014t0001g0252 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.259-1275G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095296 | |||||||
chr1:201095324 | T | C | 5 | a0001c0003t0001g0166 a0001c0003t0001g0211 a0001c0003t0001g0212 others(2): Show |
5 | NA18960.hp1 NA19062.hp2 NA19074.hp1 others(2): Show |
intron_variant | MODIFIER | c.259-1303A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095324 | |||||||
chr1:201095347 | A | G | 1 | a0002c0008t0001g0038 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.259-1326T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095347 | |||||||
chr1:201095357 | G | A | 4 | a0001c0001t0001g0031 a0001c0001t0001g0128 a0001c0001t0001g0202 others(1): Show |
4 | HG01928.hp2 HG02293.hp1 NA18969.hp1 others(1): Show |
intron_variant | MODIFIER | c.259-1336C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095357 | |||||||
chr1:201095413 | G | A | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.259-1392C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095413 | |||||||
chr1:201095434 | A | G | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1413T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095434 | |||||||
chr1:201095503 | T | C | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1482A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095503 | |||||||
chr1:201095640 | A | G | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1619T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095640 | |||||||
chr1:201095697 | G | A | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1676C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095697 | |||||||
chr1:201095787 | T | C | 231 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(228): Show |
239 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
intron_variant | MODIFIER | c.259-1766A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095787 | |||||||
chr1:201095831 | C | T | 1 | a0007c0036t0001g0244 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.259-1810G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201095831 | |||||||
chr1:201096009 | A | G | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-1988T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096009 | |||||||
chr1:201096105 | C | T | 2 | a0001c0031t0001g0048 a0001c0031t0001g0209 |
2 | HG02074.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.259-2084G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096105 | |||||||
chr1:201096136 | C | T | 3 | a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 |
3 | HG02280.hp1 HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.259-2115G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096136 | |||||||
chr1:201096137 | G | A | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2116C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096137 | |||||||
chr1:201096258 | A | G | 3 | a0001c0001t0001g0004 a0001c0001t0001g0241 a0003c0015t0001g0061 |
4 | HG01109.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-2237T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096258 | |||||||
chr1:201096318 | C | T | 227 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(224): Show |
233 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
intron_variant | MODIFIER | c.259-2297G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096318 | |||||||
chr1:201096319 | C | T | 1 | a0001c0009t0001g0186 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.259-2298G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096319 | |||||||
chr1:201096325 | G | A | 3 | a0001c0007t0001g0162 a0001c0007t0001g0216 a0001c0016t0001g0152 |
3 | HG02056.hp2 NA18612.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.259-2304C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096325 | |||||||
chr1:201096344 | T | C | 1 | a0001c0050t0001g0233 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.259-2323A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096344 | |||||||
chr1:201096410 | C | T | 3 | a0002c0008t0001g0041 a0002c0008t0001g0042 a0005c0054t0001g0177 |
3 | HG01891.hp2 HG03139.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.259-2389G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096410 | |||||||
chr1:201096617 | T | C | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2596A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096617 | |||||||
chr1:201096652 | C | T | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2631G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096652 | |||||||
chr1:201096864 | T | C | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-2843A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096864 | |||||||
chr1:201096874 | G | C | 44 | a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 others(41): Show |
44 | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.259-2853C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096874 | |||||||
chr1:201096997 | A | G | 7 | a0001c0009t0001g0186 a0002c0047t0001g0187 a0008c0018t0001g0189 others(4): Show |
7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-2976T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201096997 | |||||||
chr1:201097005 | C | T | 1 | a0001c0004t0001g0123 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.259-2984G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097005 | |||||||
chr1:201097134 | C | T | 7 | a0001c0009t0001g0186 a0002c0047t0001g0187 a0008c0018t0001g0189 others(4): Show |
7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-3113G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097134 | |||||||
chr1:201097156 | A | G | 229 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(226): Show |
237 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
intron_variant | MODIFIER | c.259-3135T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097156 | |||||||
chr1:201097184 | C | T | 1 | a0001c0002t0001g0028 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.259-3163G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097184 | |||||||
chr1:201097252 | T | A | 2 | a0001c0007t0001g0283 a0001c0029t0001g0049 |
2 | NA18945.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.259-3231A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097252 | |||||||
chr1:201097254 | C | G | 2 | a0001c0004t0001g0040 a0005c0046t0001g0255 |
2 | HG02615.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.259-3233G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097254 | |||||||
chr1:201097264 | A | C | 1 | a0002c0064t0001g0238 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.259-3243T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097264 | |||||||
chr1:201097393 | A | G | 1 | a0023c0093t0001g0246 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.259-3372T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097393 | |||||||
chr1:201097417 | C | T | 2 | a0015c0027t0001g0181 a0015c0027t0001g0182 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.259-3396G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097417 | |||||||
chr1:201097445 | AC | A | 7 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(4): Show |
7 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-3425delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097445 | |||||||
chr1:201097554 | G | T | 2 | a0001c0009t0001g0001 a0001c0009t0001g0264 |
4 | HG02451.hp1 HG02970.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.259-3533C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097554 | |||||||
chr1:201097610 | G | T | 1 | a0001c0001t0001g0092 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.259-3589C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097610 | |||||||
chr1:201097611 | C | A | 1 | a0029c0062t0001g0243 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.259-3590G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097611 | |||||||
chr1:201097619 | T | C | 1 | a0027c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.259-3598A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097619 | |||||||
chr1:201097752 | G | A | 52 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(49): Show |
52 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.259-3731C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097752 | |||||||
chr1:201097802 | G | C | 7 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(4): Show |
7 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-3781C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097802 | |||||||
chr1:201097855 | T | C | 65 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0057 others(62): Show |
67 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.259-3834A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097855 | |||||||
chr1:201097883 | G | A | 47 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0057 others(44): Show |
49 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(46): Show |
intron_variant | MODIFIER | c.259-3862C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097883 | |||||||
chr1:201097975 | A | G | 3 | a0001c0009t0001g0053 a0015c0027t0001g0181 a0015c0027t0001g0182 |
3 | HG02896.hp1 HG02897.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.259-3954T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201097975 | |||||||
chr1:201098082 | G | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.259-4061C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098082 | |||||||
chr1:201098206 | G | C | 25 | a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0109 others(22): Show |
25 | HG00558.hp1 HG00597.hp2 HG01928.hp2 others(22): Show |
intron_variant | MODIFIER | c.259-4185C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098206 | |||||||
chr1:201098285 | A | C | 226 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(223): Show |
232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.259-4264T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098285 | |||||||
chr1:201098464 | C | G | 2 | a0001c0007t0002g0302 a0001c0016t0002g0301 |
2 | HG02040.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.259-4443G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098464 | |||||||
chr1:201098519 | C | T | 2 | a0002c0048t0001g0234 a0006c0071t0001g0039 |
2 | HG02109.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.259-4498G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098519 | |||||||
chr1:201098656 | C | T | 47 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(44): Show |
47 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(44): Show |
intron_variant | MODIFIER | c.259-4635G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098656 | |||||||
chr1:201098771 | G | A | 110 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(107): Show |
114 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(111): Show |
intron_variant | MODIFIER | c.259-4750C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098771 | |||||||
chr1:201098797 | C | T | 76 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0057 others(73): Show |
80 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(77): Show |
intron_variant | MODIFIER | c.259-4776G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098797 | |||||||
chr1:201098823 | C | G | 223 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(220): Show |
231 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
intron_variant | MODIFIER | c.259-4802G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098823 | |||||||
chr1:201098827 | C | G | 60 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0057 others(57): Show |
64 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.259-4806G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098827 | |||||||
chr1:201098898 | T | C | 10 | a0001c0002t0001g0104 a0001c0002t0001g0148 a0001c0038t0001g0096 others(7): Show |
10 | HG00621.hp2 HG02080.hp1 HG02165.hp2 others(7): Show |
intron_variant | MODIFIER | c.259-4877A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098898 | |||||||
chr1:201098979 | G | T | 5 | a0001c0002t0001g0050 a0001c0002t0001g0119 a0001c0002t0001g0147 others(2): Show |
5 | NA18946.hp2 NA19078.hp2 NA19081.hp1 others(2): Show |
intron_variant | MODIFIER | c.259-4958C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201098979 | |||||||
chr1:201099035 | C | G | 3 | a0001c0001t0001g0004 a0001c0001t0001g0241 a0003c0015t0001g0061 |
4 | HG01109.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-5014G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099035 | |||||||
chr1:201099057 | C | T | 7 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(4): Show |
7 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-5036G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099057 | |||||||
chr1:201099170 | T | C | 214 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(211): Show |
221 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(218): Show |
intron_variant | MODIFIER | c.259-5149A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099170 | |||||||
chr1:201099538 | T | C | 1 | a0001c0001t0001g0275 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.259-5517A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099538 | |||||||
chr1:201099551 | G | A | 1 | a0002c0012t0001g0194 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.259-5530C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099551 | |||||||
chr1:201099568 | G | A | 8 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(5): Show |
8 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(5): Show |
intron_variant | MODIFIER | c.259-5547C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099568 | |||||||
chr1:201099626 | C | T | 2 | a0001c0033t0001g0082 a0001c0033t0001g0251 |
2 | NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.259-5605G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099626 | |||||||
chr1:201099659 | A | G | 146 | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0092 others(143): Show |
153 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.259-5638T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099659 | |||||||
chr1:201099786 | T | C | 1 | a0001c0001t0001g0168 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.259-5765A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099786 | |||||||
chr1:201099814 | C | A | 7 | a0001c0009t0001g0186 a0002c0047t0001g0187 a0008c0018t0001g0189 others(4): Show |
7 | HG02055.hp1 HG02451.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-5793G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099814 | |||||||
chr1:201099928 | G | A | 1 | a0027c0042t0001g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.259-5907C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201099928 | |||||||
chr1:201100037 | A | G | 1 | a0002c0072t0001g0265 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.259-6016T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100037 | |||||||
chr1:201100063 | C | A | 103 | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(100): Show |
104 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.259-6042G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100063 | |||||||
chr1:201100127 | A | G | 1 | a0001c0004t0001g0040 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.259-6106T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100127 | |||||||
chr1:201100157 | G | T | 1 | a0001c0083t0001g0101 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.259-6136C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100157 | |||||||
chr1:201100207 | C | T | 10 | a0001c0001t0001g0035 a0001c0001t0001g0127 a0001c0009t0001g0186 others(7): Show |
10 | HG00609.hp2 HG02055.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.259-6186G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100207 | |||||||
chr1:201100478 | C | T | 1 | a0002c0008t0001g0220 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.259-6457G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100478 | |||||||
chr1:201100510 | G | C | 4 | a0001c0009t0001g0053 a0002c0045t0001g0219 a0015c0027t0001g0181 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.259-6489C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100510 | |||||||
chr1:201100515 | T | A | 1 | a0001c0003t0001g0144 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.259-6494A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100515 | |||||||
chr1:201100544 | G | A | 5 | a0001c0009t0001g0053 a0002c0045t0001g0219 a0015c0027t0001g0181 others(2): Show |
5 | HG02896.hp1 HG02897.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.259-6523C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100544 | |||||||
chr1:201100633 | C | A | 20 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(17): Show |
20 | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.259-6612G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100633 | |||||||
chr1:201100772 | C | T | 1 | a0001c0001t0001g0116 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.259-6751G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100772 | |||||||
chr1:201100858 | C | CT | 7 | a0001c0001t0001g0281 a0002c0048t0001g0234 a0005c0046t0001g0255 others(4): Show |
7 | HG02055.hp2 HG02109.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.259-6838dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100858 | |||||||
chr1:201100858 | CT | C | 28 | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0109 others(25): Show |
29 | HG00558.hp1 HG00597.hp2 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.259-6838delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100858 | |||||||
chr1:201100873 | C | T | 1 | a0028c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.259-6852G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100873 | |||||||
chr1:201100954 | T | C | 12 | a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 others(9): Show |
13 | HG01069.hp2 HG01123.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.259-6933A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100954 | |||||||
chr1:201100988 | C | T | 1 | a0001c0031t0001g0048 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.259-6967G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201100988 | |||||||
chr1:201101031 | A | C | 13 | a0001c0009t0001g0259 a0001c0033t0001g0082 a0001c0033t0001g0251 others(10): Show |
13 | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.259-7010T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101031 | |||||||
chr1:201101046 | C | CT | 100 | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(97): Show |
101 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.259-7026dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101046 | |||||||
chr1:201101050 | A | T | 109 | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(106): Show |
110 | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(107): Show |
intron_variant | MODIFIER | c.259-7029T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101050 | |||||||
chr1:201101062 | T | G | 1 | a0002c0045t0001g0219 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.259-7041A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101062 | |||||||
chr1:201101205 | A | G | 7 | a0001c0009t0001g0053 a0002c0045t0001g0219 a0010c0039t0001g0045 others(4): Show |
7 | HG02886.hp2 HG02896.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.259-7184T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101205 | |||||||
chr1:201101272 | G | C | 30 | a0001c0001t0001g0030 a0001c0001t0001g0140 a0001c0002t0001g0141 others(27): Show |
31 | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(28): Show |
intron_variant | MODIFIER | c.259-7251C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101272 | |||||||
chr1:201101281 | T | C | 1 | a0036c0069t0001g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.259-7260A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101281 | |||||||
chr1:201101294 | C | T | 10 | a0001c0004t0001g0040 a0001c0011t0001g0014 a0001c0011t0001g0015 others(7): Show |
10 | HG01070.hp2 HG01346.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.259-7273G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101294 | |||||||
chr1:201101338 | C | T | 1 | a0002c0072t0001g0265 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.259-7317G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101338 | |||||||
chr1:201101472 | G | A | 1 | a0018c0076t0001g0087 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.259-7451C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101472 | |||||||
chr1:201101492 | G | A | 4 | a0001c0009t0001g0262 a0002c0023t0001g0227 a0002c0023t0002g0299 others(1): Show |
4 | HG01243.hp1 HG02630.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.259-7471C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101492 | |||||||
chr1:201101505 | G | A | 2 | a0006c0071t0001g0039 a0023c0093t0001g0246 |
2 | HG02559.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.259-7484C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101505 | |||||||
chr1:201101549 | G | A | 1 | a0001c0003t0001g0145 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.259-7528C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101549 | |||||||
chr1:201101612 | G | A | 26 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0239 others(23): Show |
26 | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(23): Show |
intron_variant | MODIFIER | c.259-7591C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101612 | |||||||
chr1:201101638 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.259-7617T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101638 | |||||||
chr1:201101644 | T | C | 1 | a0002c0010t0001g0099 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.259-7623A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101644 | |||||||
chr1:201101767 | T | C | 1 | a0001c0004t0001g0068 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.259-7746A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101767 | |||||||
chr1:201101788 | C | A | 1 | a0006c0085t0002g0298 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.259-7767G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101788 | |||||||
chr1:201101888 | C | CA | 7 | a0001c0025t0001g0236 a0002c0012t0001g0269 a0005c0022t0003g0258 others(4): Show |
7 | HG02148.hp2 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.259-7868dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101888 | |||||||
chr1:201101947 | G | A | 3 | a0001c0017t0001g0107 a0001c0033t0001g0082 a0001c0033t0001g0251 |
3 | HG03209.hp2 NA18522.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.259-7926C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101947 | |||||||
chr1:201101978 | A | G | 1 | a0013c0034t0001g0002 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.259-7957T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201101978 | |||||||
chr1:201102100 | T | A | 6 | a0001c0004t0001g0040 a0001c0011t0001g0014 a0001c0011t0001g0015 others(3): Show |
6 | HG02809.hp2 HG02965.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.258+8064A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102100 | |||||||
chr1:201102175 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+7989T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102175 | |||||||
chr1:201102223 | C | T | 1 | a0002c0023t0002g0299 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.258+7941G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102223 | |||||||
chr1:201102411 | C | T | 16 | a0001c0004t0001g0068 a0001c0004t0001g0121 a0001c0011t0001g0084 others(13): Show |
17 | HG00280.hp1 HG01069.hp1 HG01069.hp2 others(14): Show |
intron_variant | MODIFIER | c.258+7753G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102411 | |||||||
chr1:201102526 | G | A | 4 | a0002c0012t0001g0269 a0005c0049t0001g0254 a0014c0032t0001g0266 others(1): Show |
4 | HG02717.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.258+7638C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102526 | |||||||
chr1:201102580 | G | T | 1 | a0003c0005t0001g0161 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.258+7584C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102580 | |||||||
chr1:201102595 | C | T | 1 | a0001c0016t0002g0301 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.258+7569G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102595 | |||||||
chr1:201102596 | G | A | 1 | a0001c0003t0001g0213 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.258+7568C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102596 | |||||||
chr1:201102609 | A | G | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+7555T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102609 | |||||||
chr1:201102662 | A | G | 183 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(180): Show |
187 | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(184): Show |
intron_variant | MODIFIER | c.258+7502T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102662 | |||||||
chr1:201102701 | T | C | 4 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0079t0001g0268 others(1): Show |
6 | HG02055.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+7463A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102701 | |||||||
chr1:201102756 | T | G | 180 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(177): Show |
184 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(181): Show |
intron_variant | MODIFIER | c.258+7408A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102756 | |||||||
chr1:201102767 | T | C | 4 | a0002c0012t0001g0269 a0010c0039t0001g0045 a0010c0039t0002g0297 others(1): Show |
4 | HG02717.hp1 HG02886.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+7397A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102767 | |||||||
chr1:201102791 | G | A | 1 | a0028c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.258+7373C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102791 | |||||||
chr1:201102954 | G | T | 3 | a0001c0009t0001g0262 a0002c0012t0001g0269 a0027c0042t0001g0009 |
3 | HG01243.hp1 HG02717.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.258+7210C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102954 | |||||||
chr1:201102968 | C | A | 1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.258+7196G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201102968 | |||||||
chr1:201103051 | C | T | 1 | a0002c0012t0001g0245 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.258+7113G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103051 | |||||||
chr1:201103055 | C | T | 4 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0079t0001g0268 others(1): Show |
6 | HG02055.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+7109G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103055 | |||||||
chr1:201103072 | T | C | 193 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(190): Show |
199 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(196): Show |
intron_variant | MODIFIER | c.258+7092A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103072 | |||||||
chr1:201103080 | C | T | 3 | a0001c0002t0001g0119 a0001c0021t0001g0170 a0001c0030t0001g0171 |
3 | HG00408.hp2 HG00544.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.258+7084G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103080 | |||||||
chr1:201103138 | C | T | 3 | a0001c0002t0001g0051 a0001c0004t0001g0018 a0004c0006t0001g0060 |
3 | HG01081.hp2 HG04184.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.258+7026G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103138 | |||||||
chr1:201103184 | T | C | 9 | a0001c0003t0001g0006 a0001c0004t0001g0121 a0003c0082t0001g0122 others(6): Show |
10 | HG01167.hp1 HG01167.hp2 HG01168.hp2 others(7): Show |
intron_variant | MODIFIER | c.258+6980A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103184 | |||||||
chr1:201103224 | T | C | 220 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(217): Show |
226 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(223): Show |
intron_variant | MODIFIER | c.258+6940A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103224 | |||||||
chr1:201103231 | G | GT | 226 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(223): Show |
232 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(229): Show |
intron_variant | MODIFIER | c.258+6932_258+6933i others(3): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103231 | |||||||
chr1:201103238 | T | C | 10 | a0001c0002t0001g0051 a0001c0004t0001g0018 a0001c0004t0001g0040 others(7): Show |
10 | HG01081.hp2 HG01243.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.258+6926A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103238 | |||||||
chr1:201103244 | C | CA | 55 | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0114 others(52): Show |
56 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.258+6919dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103244 | |||||||
chr1:201103244 | CA | C | 29 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0079 others(26): Show |
30 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.258+6919delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103244 | |||||||
chr1:201103373 | C | T | 4 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0079t0001g0268 others(1): Show |
6 | HG02055.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+6791G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103373 | |||||||
chr1:201103416 | AAAGGCTT others(6): Show |
A | 48 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(45): Show |
49 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.258+6735_258+6747d others(15): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103416 | |||||||
chr1:201103453 | T | A | 48 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(45): Show |
49 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.258+6711A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103453 | |||||||
chr1:201103497 | A | G | 1 | a0028c0092t0001g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.258+6667T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103497 | |||||||
chr1:201103521 | G | C | 48 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(45): Show |
49 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.258+6643C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103521 | |||||||
chr1:201103722 | C | T | 8 | a0001c0003t0001g0288 a0001c0013t0001g0007 a0001c0013t0001g0291 others(5): Show |
9 | HG00323.hp1 HG01081.hp1 HG01106.hp2 others(6): Show |
intron_variant | MODIFIER | c.258+6442G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103722 | |||||||
chr1:201103775 | C | T | 9 | a0001c0001t0001g0088 a0001c0011t0001g0084 a0001c0011t0001g0085 others(6): Show |
10 | HG00140.hp2 HG00280.hp1 HG01069.hp1 others(7): Show |
intron_variant | MODIFIER | c.258+6389G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103775 | |||||||
chr1:201103793 | G | A | 5 | a0001c0001t0001g0055 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show |
5 | HG00735.hp2 HG01106.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+6371C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103793 | |||||||
chr1:201103803 | C | T | 1 | a0001c0033t0001g0251 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.258+6361G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103803 | |||||||
chr1:201103819 | A | T | 1 | a0001c0002t0001g0141 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.258+6345T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103819 | |||||||
chr1:201103820 | C | A | 1 | a0001c0002t0001g0141 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.258+6344G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103820 | |||||||
chr1:201103912 | G | A | 2 | a0001c0029t0001g0049 a0001c0031t0001g0048 |
2 | HG02074.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.258+6252C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103912 | |||||||
chr1:201103930 | G | A | 2 | a0001c0007t0001g0216 a0002c0010t0001g0215 |
2 | HG02056.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.258+6234C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103930 | |||||||
chr1:201103989 | GGCCCT | G | 31 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0079 others(28): Show |
34 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.258+6170_258+6174d others(7): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201103989 | |||||||
chr1:201104011 | C | A | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+6153G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104011 | |||||||
chr1:201104225 | G | A | 1 | a0001c0029t0001g0049 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.258+5939C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104225 | |||||||
chr1:201104226 | G | A | 5 | a0001c0001t0001g0239 a0001c0025t0001g0076 a0001c0025t0001g0236 others(2): Show |
5 | HG00558.hp2 HG00738.hp1 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.258+5938C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104226 | |||||||
chr1:201104283 | A | G | 2 | a0002c0012t0001g0269 a0027c0042t0001g0009 |
2 | HG02717.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.258+5881T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104283 | |||||||
chr1:201104288 | C | T | 5 | a0001c0009t0001g0262 a0002c0012t0001g0269 a0010c0039t0001g0045 others(2): Show |
5 | HG01243.hp1 HG02717.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.258+5876G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104288 | |||||||
chr1:201104301 | C | G | 5 | a0001c0002t0001g0051 a0001c0004t0001g0018 a0001c0004t0001g0040 others(2): Show |
5 | HG01081.hp2 HG02965.hp1 HG04184.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+5863G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104301 | |||||||
chr1:201104348 | A | T | 26 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0079 others(23): Show |
27 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.258+5816T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104348 | |||||||
chr1:201104352 | C | T | 49 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(46): Show |
50 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.258+5812G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104352 | |||||||
chr1:201104422 | T | C | 2 | a0001c0003t0001g0159 a0001c0003t0001g0160 |
2 | NA18950.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.258+5742A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104422 | |||||||
chr1:201104427 | T | C | 49 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(46): Show |
50 | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.258+5737A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104427 | |||||||
chr1:201104549 | C | T | 3 | a0001c0002t0001g0077 a0001c0004t0001g0068 a0004c0006t0001g0067 |
3 | HG01074.hp1 HG01361.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.258+5615G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104549 | |||||||
chr1:201104563 | C | T | 94 | a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0146 others(91): Show |
96 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(93): Show |
intron_variant | MODIFIER | c.258+5601G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104563 | |||||||
chr1:201104715 | G | A | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+5449C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104715 | |||||||
chr1:201104886 | T | C | 6 | a0001c0009t0001g0262 a0002c0012t0001g0269 a0002c0089t0001g0054 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+5278A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201104886 | |||||||
chr1:201105042 | A | G | 1 | a0002c0072t0001g0265 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.258+5122T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105042 | |||||||
chr1:201105165 | C | T | 93 | a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0146 others(90): Show |
95 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.258+4999G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105165 | |||||||
chr1:201105231 | A | G | 4 | a0002c0072t0001g0265 a0008c0018t0001g0165 a0015c0027t0001g0181 others(1): Show |
4 | HG01109.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+4933T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105231 | |||||||
chr1:201105254 | G | A | 16 | a0001c0001t0001g0032 a0001c0001t0001g0055 a0001c0001t0001g0057 others(13): Show |
16 | HG00597.hp2 HG00735.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.258+4910C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105254 | |||||||
chr1:201105275 | C | T | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+4889G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105275 | |||||||
chr1:201105297 | C | T | 9 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(6): Show |
9 | HG01884.hp1 HG02615.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.258+4867G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105297 | |||||||
chr1:201105444 | A | C | 1 | a0001c0001t0001g0167 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.258+4720T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105444 | |||||||
chr1:201105516 | C | A | 1 | a0031c0041t0001g0044 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.258+4648G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105516 | |||||||
chr1:201105561 | C | T | 1 | a0001c0009t0001g0259 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.258+4603G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105561 | |||||||
chr1:201105660 | T | C | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+4504A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105660 | |||||||
chr1:201105713 | C | T | 47 | a0001c0001t0001g0114 a0001c0001t0001g0168 a0001c0001t0002g0303 others(44): Show |
48 | HG00323.hp1 HG00609.hp1 HG01081.hp1 others(45): Show |
intron_variant | MODIFIER | c.258+4451G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105713 | |||||||
chr1:201105718 | A | T | 209 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(206): Show |
214 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.258+4446T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105718 | |||||||
chr1:201105795 | G | A | 207 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(204): Show |
212 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(209): Show |
intron_variant | MODIFIER | c.258+4369C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105795 | |||||||
chr1:201105799 | T | C | 201 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(198): Show |
206 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(203): Show |
intron_variant | MODIFIER | c.258+4365A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105799 | |||||||
chr1:201105824 | T | G | 1 | a0001c0002t0001g0077 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.258+4340A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105824 | |||||||
chr1:201105861 | C | A | 1 | a0006c0085t0002g0298 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.258+4303G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105861 | |||||||
chr1:201105865 | G | A | 2 | a0001c0002t0001g0051 a0001c0004t0001g0018 |
2 | HG01081.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.258+4299C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105865 | |||||||
chr1:201105866 | G | A | 42 | a0001c0001t0001g0114 a0001c0001t0001g0167 a0001c0001t0001g0168 others(39): Show |
42 | HG00609.hp1 HG02040.hp1 HG02055.hp1 others(39): Show |
intron_variant | MODIFIER | c.258+4298C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105866 | |||||||
chr1:201105871 | G | T | 4 | a0001c0001t0001g0172 a0001c0021t0001g0170 a0001c0030t0001g0171 others(1): Show |
4 | HG00408.hp2 HG00544.hp2 NA18947.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+4293C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105871 | |||||||
chr1:201105923 | C | T | 1 | a0001c0001t0001g0163 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.258+4241G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105923 | |||||||
chr1:201105942 | G | T | 2 | a0002c0023t0001g0227 a0005c0078t0001g0226 |
2 | HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.258+4222C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201105942 | |||||||
chr1:201106048 | G | A | 2 | a0001c0050t0001g0233 a0002c0048t0001g0234 |
2 | HG02109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.258+4116C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106048 | |||||||
chr1:201106076 | C | T | 1 | a0003c0005t0001g0126 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.258+4088G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106076 | |||||||
chr1:201106077 | C | A | 2 | a0001c0050t0001g0233 a0002c0048t0001g0234 |
2 | HG02109.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.258+4087G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106077 | |||||||
chr1:201106103 | A | G | 19 | a0001c0001t0001g0116 a0001c0003t0001g0288 a0001c0009t0001g0001 others(16): Show |
22 | HG00323.hp1 HG00621.hp1 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.258+4061T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106103 | |||||||
chr1:201106117 | T | C | 136 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(133): Show |
139 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.258+4047A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106117 | |||||||
chr1:201106157 | C | G | 1 | a0001c0001t0002g0303 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.258+4007G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106157 | |||||||
chr1:201106308 | C | T | 2 | a0001c0002t0001g0051 a0001c0004t0001g0018 |
2 | HG01081.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.258+3856G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106308 | |||||||
chr1:201106343 | A | G | 1 | a0002c0010t0001g0173 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.258+3821T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106343 | |||||||
chr1:201106388 | CT | C | 6 | a0001c0009t0001g0001 a0001c0009t0001g0264 a0001c0079t0001g0268 others(3): Show |
8 | HG01109.hp2 HG02451.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.258+3775delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106388 | |||||||
chr1:201106426 | G | A | 21 | a0001c0001t0001g0217 a0001c0001t0002g0303 a0001c0002t0001g0115 others(18): Show |
21 | HG01978.hp2 HG02040.hp1 HG02280.hp1 others(18): Show |
intron_variant | MODIFIER | c.258+3738C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106426 | |||||||
chr1:201106503 | G | A | 6 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(3): Show |
6 | HG02970.hp2 HG03195.hp1 NA18522.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+3661C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106503 | |||||||
chr1:201106597 | T | C | 2 | a0002c0023t0001g0227 a0005c0078t0001g0226 |
2 | HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.258+3567A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106597 | |||||||
chr1:201106625 | T | A | 1 | a0001c0004t0001g0121 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.258+3539A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106625 | |||||||
chr1:201106668 | T | C | 211 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(208): Show |
216 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(213): Show |
intron_variant | MODIFIER | c.258+3496A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106668 | |||||||
chr1:201106748 | T | G | 1 | a0001c0003t0001g0242 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.258+3416A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106748 | |||||||
chr1:201106871 | G | C | 3 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 |
3 | HG01884.hp2 HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+3293C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106871 | |||||||
chr1:201106974 | C | T | 1 | a0001c0002t0001g0077 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.258+3190G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201106974 | |||||||
chr1:201107039 | C | T | 209 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(206): Show |
214 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.258+3125G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107039 | |||||||
chr1:201107145 | C | G | 20 | a0001c0009t0001g0001 a0001c0009t0001g0259 a0001c0009t0001g0262 others(17): Show |
22 | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.258+3019G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107145 | |||||||
chr1:201107162 | T | A | 208 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(205): Show |
213 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(210): Show |
intron_variant | MODIFIER | c.258+3002A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107162 | |||||||
chr1:201107322 | A | C | 5 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(2): Show |
5 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+2842T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107322 | |||||||
chr1:201107343 | C | T | 4 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0010c0077t0001g0010 others(1): Show |
4 | HG02109.hp2 HG03139.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+2821G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107343 | |||||||
chr1:201107385 | A | G | 6 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(3): Show |
6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+2779T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107385 | |||||||
chr1:201107386 | T | C | 32 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 others(29): Show |
33 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(30): Show |
intron_variant | MODIFIER | c.258+2778A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107386 | |||||||
chr1:201107488 | G | A | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2676C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107488 | |||||||
chr1:201107491 | A | C | 6 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(3): Show |
6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+2673T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107491 | |||||||
chr1:201107641 | G | T | 49 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(46): Show |
49 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.258+2523C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107641 | |||||||
chr1:201107718 | A | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.258+2446T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107718 | |||||||
chr1:201107732 | C | T | 1 | a0004c0006t0001g0060 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.258+2432G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107732 | |||||||
chr1:201107772 | G | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2392C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107772 | |||||||
chr1:201107789 | G | C | 191 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(188): Show |
194 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(191): Show |
intron_variant | MODIFIER | c.258+2375C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107789 | |||||||
chr1:201107874 | T | C | 5 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(2): Show |
5 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+2290A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107874 | |||||||
chr1:201107895 | C | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+2269G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107895 | |||||||
chr1:201107939 | C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2225G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107939 | |||||||
chr1:201107982 | C | G | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+2182G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201107982 | |||||||
chr1:201108019 | A | T | 1 | a0014c0032t0001g0266 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.258+2145T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108019 | |||||||
chr1:201108084 | T | C | 183 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(180): Show |
186 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(183): Show |
intron_variant | MODIFIER | c.258+2080A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108084 | |||||||
chr1:201108105 | A | AT | 17 | a0001c0004t0001g0025 a0001c0009t0001g0001 a0001c0009t0001g0259 others(14): Show |
19 | HG01109.hp2 HG01884.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.258+2058dupA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108105 | |||||||
chr1:201108105 | AT | A | 146 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0021 others(143): Show |
148 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(145): Show |
intron_variant | MODIFIER | c.258+2058delA | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108105 | |||||||
chr1:201108136 | C | T | 5 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0069 others(2): Show |
5 | HG01258.hp2 HG01346.hp2 HG01928.hp1 others(2): Show |
intron_variant | MODIFIER | c.258+2028G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108136 | |||||||
chr1:201108230 | C | T | 1 | a0001c0001t0001g0247 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.258+1934G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108230 | |||||||
chr1:201108268 | G | T | 2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.258+1896C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108268 | |||||||
chr1:201108308 | G | A | 1 | a0001c0070t0001g0120 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.258+1856C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108308 | |||||||
chr1:201108341 | T | G | 188 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(185): Show |
191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+1823A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108341 | |||||||
chr1:201108342 | T | A | 188 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(185): Show |
191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+1822A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108342 | |||||||
chr1:201108349 | C | T | 2 | a0010c0077t0001g0010 a0027c0042t0001g0009 |
2 | NA18522.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.258+1815G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108349 | |||||||
chr1:201108382 | C | T | 20 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 others(17): Show |
20 | HG00438.hp2 HG00544.hp1 HG02071.hp2 others(17): Show |
intron_variant | MODIFIER | c.258+1782G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108382 | |||||||
chr1:201108383 | A | G | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.258+1781T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108383 | |||||||
chr1:201108438 | G | T | 1 | a0001c0001t0001g0270 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.258+1726C>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108438 | |||||||
chr1:201108512 | C | A | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+1652G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108512 | |||||||
chr1:201108519 | C | T | 31 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 others(28): Show |
32 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.258+1645G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108519 | |||||||
chr1:201108539 | A | G | 188 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(185): Show |
191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+1625T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108539 | |||||||
chr1:201108727 | C | A | 1 | a0001c0004t0001g0121 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.258+1437G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108727 | |||||||
chr1:201108796 | C | T | 16 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0069 others(13): Show |
16 | HG00140.hp1 HG00558.hp2 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.258+1368G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108796 | |||||||
chr1:201108834 | T | C | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+1330A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108834 | |||||||
chr1:201108855 | G | A | 2 | a0004c0006t0001g0024 a0004c0006t0001g0026 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.258+1309C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108855 | |||||||
chr1:201108863 | C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+1301G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108863 | |||||||
chr1:201108921 | G | A | 4 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0010c0077t0001g0010 others(1): Show |
4 | HG02109.hp2 HG03139.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.258+1243C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201108921 | |||||||
chr1:201109127 | A | G | 2 | a0001c0007t0002g0302 a0001c0016t0002g0301 |
2 | HG02040.hp1 NA18747.hp2 |
intron_variant | MODIFIER | c.258+1037T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109127 | |||||||
chr1:201109179 | C | T | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+985G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109179 | |||||||
chr1:201109203 | C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+961G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109203 | |||||||
chr1:201109243 | C | CA | 9 | a0001c0004t0001g0025 a0001c0009t0001g0262 a0001c0014t0001g0252 others(6): Show |
9 | HG01168.hp2 HG01243.hp1 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.258+920dupT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109243 | |||||||
chr1:201109243 | CA | C | 12 | a0001c0001t0001g0230 a0001c0002t0001g0231 a0001c0004t0001g0068 others(9): Show |
12 | HG01074.hp1 HG01361.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.258+920delT | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109243 | |||||||
chr1:201109243 | CAA | C | 173 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(170): Show |
176 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(173): Show |
intron_variant | MODIFIER | c.258+919_258+920del others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109243 | |||||||
chr1:201109282 | C | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+882G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109282 | |||||||
chr1:201109389 | T | C | 6 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(3): Show |
6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+775A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109389 | |||||||
chr1:201109555 | C | T | 1 | a0008c0018t0001g0165 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.258+609G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109555 | |||||||
chr1:201109559 | C | T | 1 | a0009c0019t0001g0164 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.258+605G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109559 | |||||||
chr1:201109590 | G | A | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+574C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109590 | |||||||
chr1:201109685 | A | G | 6 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(3): Show |
6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+479T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109685 | |||||||
chr1:201109744 | C | T | 1 | a0034c0091t0001g0033 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.258+420G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109744 | |||||||
chr1:201109745 | T | C | 6 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(3): Show |
6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+419A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109745 | |||||||
chr1:201109747 | A | T | 1 | a0005c0094t0001g0263 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.258+417T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109747 | |||||||
chr1:201109773 | C | T | 3 | a0001c0014t0001g0063 a0001c0051t0001g0064 a0020c0087t0001g0019 |
3 | HG01175.hp1 HG03704.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.258+391G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109773 | |||||||
chr1:201109800 | A | T | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.258+364T>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109800 | |||||||
chr1:201109893 | A | G | 188 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(185): Show |
191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+271T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109893 | |||||||
chr1:201109960 | G | A | 188 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(185): Show |
191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.258+204C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109960 | |||||||
chr1:201109963 | T | TCA | 6 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(3): Show |
6 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.258+199_258+200dup others(2): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201109963 | |||||||
chr1:201110070 | C | T | 1 | a0005c0049t0001g0254 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.258+94G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110070 | |||||||
chr1:201110095 | C | G | 1 | a0001c0007t0001g0062 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.258+69G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110095 | |||||||
chr1:201110107 | C | T | 134 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(131): Show |
136 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.258+57G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110107 | |||||||
chr1:201110132 | C | T | 1 | a0001c0025t0001g0236 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.258+32G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | 201110132 | |||||||
chr1:201110330 | T | A | 188 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(185): Show |
191 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(188): Show |
intron_variant | MODIFIER | c.153-61A>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110330 | |||||||
chr1:201110386 | C | T | 1 | a0003c0015t0001g0061 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.153-117G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110386 | |||||||
chr1:201110404 | C | T | 1 | a0004c0006t0001g0060 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.153-135G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110404 | |||||||
chr1:201110435 | C | T | 5 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0089t0001g0054 others(2): Show |
5 | HG01884.hp2 HG02109.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.153-166G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110435 | |||||||
chr1:201110462 | C | A | 182 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(179): Show |
185 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(182): Show |
intron_variant | MODIFIER | c.153-193G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110462 | |||||||
chr1:201110573 | C | T | 2 | a0010c0039t0001g0045 a0010c0039t0002g0297 |
2 | HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.153-304G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110573 | |||||||
chr1:201110590 | C | T | 183 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(180): Show |
186 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(183): Show |
intron_variant | MODIFIER | c.153-321G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110590 | |||||||
chr1:201110686 | T | C | 1 | a0001c0004t0001g0123 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.153-417A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110686 | |||||||
chr1:201110840 | C | T | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.153-571G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110840 | |||||||
chr1:201110982 | C | T | 50 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(47): Show |
50 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.153-713G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201110982 | |||||||
chr1:201111063 | G | GGGGGCTA others(11): Show |
16 | a0001c0009t0001g0001 a0001c0009t0001g0259 a0001c0009t0001g0264 others(13): Show |
18 | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.153-795_153-794ins others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111063 | |||||||
chr1:201111065 | G | GGGCTACT others(11): Show |
1 | a0001c0009t0001g0262 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.153-797_153-796ins others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111065 | |||||||
chr1:201111153 | G | A | 1 | a0002c0089t0001g0054 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.153-884C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111153 | |||||||
chr1:201111165 | C | T | 16 | a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0004t0001g0018 others(13): Show |
16 | HG01081.hp2 HG02074.hp2 HG02723.hp2 others(13): Show |
intron_variant | MODIFIER | c.153-896G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111165 | |||||||
chr1:201111169 | A | C | 32 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(29): Show |
34 | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.153-900T>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111169 | |||||||
chr1:201111170 | T | C | 225 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(222): Show |
231 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(228): Show |
intron_variant | MODIFIER | c.153-901A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111170 | |||||||
chr1:201111215 | C | T | 1 | a0016c0028t0001g0058 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.153-946G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111215 | |||||||
chr1:201111218 | C | T | 2 | a0001c0001t0001g0057 a0001c0007t0001g0056 |
2 | NA18967.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.153-949G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111218 | |||||||
chr1:201111241 | G | A | 31 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 others(28): Show |
33 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(30): Show |
intron_variant | MODIFIER | c.152+947C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111241 | |||||||
chr1:201111266 | C | T | 11 | a0001c0001t0001g0055 a0001c0009t0001g0001 a0001c0009t0001g0264 others(8): Show |
13 | HG01109.hp2 HG01255.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.152+922G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111266 | |||||||
chr1:201111352 | G | C | 26 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(23): Show |
26 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.152+836C>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111352 | |||||||
chr1:201111421 | C | A | 24 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(21): Show |
24 | HG01243.hp1 HG01891.hp1 HG02040.hp1 others(21): Show |
intron_variant | MODIFIER | c.152+767G>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111421 | |||||||
chr1:201111606 | C | G | 1 | a0002c0074t0001g0249 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.152+582G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111606 | |||||||
chr1:201111649 | T | G | 1 | a0007c0036t0001g0244 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.152+539A>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111649 | |||||||
chr1:201111657 | C | G | 24 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(21): Show |
24 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.152+531G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111657 | |||||||
chr1:201111701 | G | A | 2 | a0010c0077t0001g0010 a0027c0042t0001g0009 |
2 | NA18522.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.152+487C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111701 | |||||||
chr1:201111770 | G | A | 4 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0010c0077t0001g0010 others(1): Show |
4 | HG02109.hp2 HG03139.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.152+418C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111770 | |||||||
chr1:201111804 | C | T | 1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.152+384G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111804 | |||||||
chr1:201111836 | G | A | 28 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(25): Show |
28 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.152+352C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111836 | |||||||
chr1:201111850 | T | C | 14 | a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0014t0001g0252 others(11): Show |
14 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.152+338A>G | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111850 | |||||||
chr1:201111886 | G | A | 28 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(25): Show |
28 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.152+302C>T | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111886 | |||||||
chr1:201111889 | A | G | 38 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 others(35): Show |
41 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(38): Show |
intron_variant | MODIFIER | c.152+299T>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111889 | |||||||
chr1:201111918 | TTCC | T | 3 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0004t0001g0040 |
3 | HG02071.hp2 HG02965.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.152+267_152+269del others(3): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111918 | |||||||
chr1:201111922 | T | TCCTCCTC others(21): Show |
221 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(218): Show |
226 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
intron_variant | MODIFIER | c.152+238_152+265dup others(28): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | |||||||
chr1:201111922 | T | TCCTCCTC others(49): Show |
1 | a0002c0012t0001g0245 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.152+210_152+265dup others(56): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | |||||||
chr1:201111922 | T | TCCTCCTC others(22): Show |
1 | a0031c0041t0001g0044 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.152+265_152+266ins others(29): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | |||||||
chr1:201111922 | T | TCCTCCTC others(18): Show |
47 | a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 others(44): Show |
50 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.152+265_152+266ins others(25): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111922 | |||||||
chr1:201111952 | C | CTCCTCCT others(58): Show |
2 | a0001c0014t0001g0011 a0001c0014t0001g0012 |
2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.152+235_152+236ins others(65): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111952 | |||||||
chr1:201111952 | C | CTCCTCCT others(58): Show |
26 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(23): Show |
26 | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.152+235_152+236ins others(65): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111952 | |||||||
chr1:201111952 | C | CTCCTCCT others(58): Show |
2 | a0001c0001t0001g0247 a0001c0001t0001g0248 |
2 | HG02071.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.152+235_152+236ins others(65): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111952 | |||||||
chr1:201111985 | C | CCTCTTCC others(21): Show |
1 | a0006c0071t0001g0039 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.152+202_152+203ins others(28): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201111985 | |||||||
chr1:201112132 | C | T | 14 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(11): Show |
14 | HG02040.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.152+56G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112132 | |||||||
chr1:201112150 | C | T | 2 | a0002c0008t0001g0038 a0023c0093t0001g0246 |
2 | HG01070.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.152+38G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112150 | |||||||
chr1:201112155 | A | AC | 20 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 others(17): Show |
20 | HG00639.hp1 HG01168.hp2 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.152+32dupG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112155 | |||||||
chr1:201112155 | AC | A | 67 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 others(64): Show |
70 | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(67): Show |
intron_variant | MODIFIER | c.152+32delG | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112155 | |||||||
chr1:201112158 | C | T | 8 | a0001c0014t0001g0011 a0001c0014t0001g0012 a0002c0023t0002g0299 others(5): Show |
8 | HG02055.hp2 HG02109.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.152+30G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112158 | |||||||
chr1:201112162 | C | G | 1 | a0001c0001t0001g0017 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.152+26G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112162 | |||||||
chr1:201112162 | C | T | 4 | a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 others(1): Show |
4 | HG02970.hp2 HG03195.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.152+26G>A | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112162 | |||||||
chr1:201112171 | C | G | 14 | a0001c0001t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 others(11): Show |
14 | HG02040.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.152+17G>C | CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | 201112171 |