Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13231850C>ACA404334923CACNA1Ac.5260G>T (p.Gly1754Trp)
c.5266G>T (p.Gly1756Trp)
c.679G>T
n.484G>T
c.421G>T (p.Gly141Trp)
c.5263G>T (p.Gly1755Trp)
n.1249G>T
c.575G>T
c.355G>T (p.Gly119Trp)
c.5269G>T (p.Gly1757Trp)
c.556G>T (p.Gly186Trp)
c.5278G>T (p.Gly1760Trp)
c.5122G>T (p.Gly1708Trp)
c.454G>T
n.653G>T
c.664G>T (p.Gly222Trp)
n.254G>T
c.5464G>T (p.Gly1822Trp)
c.1318G>T (p.Gly440Trp)
c.721G>T (p.Gly241Trp)
19g.13231850C=CA2323793817CACNA1Ac.5260G= (p.Gly1754=)
c.5266G= (p.Gly1756=)
c.679G=
n.484G=
c.421G= (p.Gly141=)
c.5263G= (p.Gly1755=)
n.1249G=
c.575G=
c.355G= (p.Gly119=)
c.5269G= (p.Gly1757=)
c.556G= (p.Gly186=)
c.5278G= (p.Gly1760=)
c.5122G= (p.Gly1708=)
c.454G=
n.653G=
c.664G= (p.Gly222=)
n.254G=
c.5464G= (p.Gly1822=)
c.1318G= (p.Gly440=)
c.721G= (p.Gly241=)
19g.13231850C>GCA404334925CACNA1Ac.5260G>C (p.Gly1754Arg)
c.5266G>C (p.Gly1756Arg)
c.679G>C
n.484G>C
c.421G>C (p.Gly141Arg)
c.5263G>C (p.Gly1755Arg)
n.1249G>C
c.575G>C
c.355G>C (p.Gly119Arg)
c.5269G>C (p.Gly1757Arg)
c.556G>C (p.Gly186Arg)
c.5278G>C (p.Gly1760Arg)
c.5122G>C (p.Gly1708Arg)
c.454G>C
n.653G>C
c.664G>C (p.Gly222Arg)
n.254G>C
c.5464G>C (p.Gly1822Arg)
c.1318G>C (p.Gly440Arg)
c.721G>C (p.Gly241Arg)
19g.13231850C>TCA404334921CACNA1Ac.5260G>A (p.Gly1754Arg)
c.5266G>A (p.Gly1756Arg)
c.679G>A
n.484G>A
c.421G>A (p.Gly141Arg)
c.5263G>A (p.Gly1755Arg)
n.1249G>A
c.575G>A
c.355G>A (p.Gly119Arg)
c.5269G>A (p.Gly1757Arg)
c.556G>A (p.Gly186Arg)
c.5278G>A (p.Gly1760Arg)
c.5122G>A (p.Gly1708Arg)
c.454G>A
n.653G>A
c.664G>A (p.Gly222Arg)
n.254G>A
c.5464G>A (p.Gly1822Arg)
c.1318G>A (p.Gly440Arg)
c.721G>A (p.Gly241Arg)
 ClinVar dbSNP gnomAD v4
19g.13231851G>ACA9239766CACNA1Ac.5259C>T (p.Thr1753=)
c.5265C>T (p.Thr1755=)
c.678C>T
n.483C>T
c.420C>T (p.Thr140=)
c.5262C>T (p.Thr1754=)
n.1248C>T
c.574C>T
c.354C>T (p.Thr118=)
c.5268C>T (p.Thr1756=)
c.555C>T (p.Thr185=)
c.5277C>T (p.Thr1759=)
c.5121C>T (p.Thr1707=)
c.453C>T
n.652C>T
c.663C>T (p.Thr221=)
n.253C>T
c.5463C>T (p.Thr1821=)
c.1317C>T (p.Thr439=)
c.720C>T (p.Thr240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13231851G>CCA505657177CACNA1Ac.5259C>G (p.Thr1753=)
c.5265C>G (p.Thr1755=)
c.678C>G
n.483C>G
c.420C>G (p.Thr140=)
c.5262C>G (p.Thr1754=)
n.1248C>G
c.574C>G
c.354C>G (p.Thr118=)
c.5268C>G (p.Thr1756=)
c.555C>G (p.Thr185=)
c.5277C>G (p.Thr1759=)
c.5121C>G (p.Thr1707=)
c.453C>G
n.652C>G
c.663C>G (p.Thr221=)
n.253C>G
c.5463C>G (p.Thr1821=)
c.1317C>G (p.Thr439=)
c.720C>G (p.Thr240=)
19g.13231851G=CA2323793818CACNA1Ac.5259C= (p.Thr1753=)
c.5265C= (p.Thr1755=)
c.678C=
n.483C=
c.420C= (p.Thr140=)
c.5262C= (p.Thr1754=)
n.1248C=
c.574C=
c.354C= (p.Thr118=)
c.5268C= (p.Thr1756=)
c.555C= (p.Thr185=)
c.5277C= (p.Thr1759=)
c.5121C= (p.Thr1707=)
c.453C=
n.652C=
c.663C= (p.Thr221=)
n.253C=
c.5463C= (p.Thr1821=)
c.1317C= (p.Thr439=)
c.720C= (p.Thr240=)
19g.13231851G>TCA505657178CACNA1Ac.5259C>A (p.Thr1753=)
c.5265C>A (p.Thr1755=)
c.678C>A
n.483C>A
c.420C>A (p.Thr140=)
c.5262C>A (p.Thr1754=)
n.1248C>A
c.574C>A
c.354C>A (p.Thr118=)
c.5268C>A (p.Thr1756=)
c.555C>A (p.Thr185=)
c.5277C>A (p.Thr1759=)
c.5121C>A (p.Thr1707=)
c.453C>A
n.652C>A
c.663C>A (p.Thr221=)
n.253C>A
c.5463C>A (p.Thr1821=)
c.1317C>A (p.Thr439=)
c.720C>A (p.Thr240=)
19g.13231852G>ACA404334928CACNA1Ac.5258C>T (p.Thr1753Ile)
c.5264C>T (p.Thr1755Ile)
c.677C>T
n.482C>T
c.419C>T (p.Thr140Ile)
c.5261C>T (p.Thr1754Ile)
n.1247C>T
c.573C>T
c.353C>T (p.Thr118Ile)
c.5267C>T (p.Thr1756Ile)
c.554C>T (p.Thr185Ile)
c.5276C>T (p.Thr1759Ile)
c.5120C>T (p.Thr1707Ile)
c.452C>T
n.651C>T
c.662C>T (p.Thr221Ile)
n.252C>T
c.5462C>T (p.Thr1821Ile)
c.1316C>T (p.Thr439Ile)
c.719C>T (p.Thr240Ile)
19g.13231852G>CCA404334930CACNA1Ac.5258C>G (p.Thr1753Ser)
c.5264C>G (p.Thr1755Ser)
c.677C>G
n.482C>G
c.419C>G (p.Thr140Ser)
c.5261C>G (p.Thr1754Ser)
n.1247C>G
c.573C>G
c.353C>G (p.Thr118Ser)
c.5267C>G (p.Thr1756Ser)
c.554C>G (p.Thr185Ser)
c.5276C>G (p.Thr1759Ser)
c.5120C>G (p.Thr1707Ser)
c.452C>G
n.651C>G
c.662C>G (p.Thr221Ser)
n.252C>G
c.5462C>G (p.Thr1821Ser)
c.1316C>G (p.Thr439Ser)
c.719C>G (p.Thr240Ser)
 ClinVar
19g.13231852G>TCA404334932CACNA1Ac.5258C>A (p.Thr1753Asn)
c.5264C>A (p.Thr1755Asn)
c.677C>A
n.482C>A
c.419C>A (p.Thr140Asn)
c.5261C>A (p.Thr1754Asn)
n.1247C>A
c.573C>A
c.353C>A (p.Thr118Asn)
c.5267C>A (p.Thr1756Asn)
c.554C>A (p.Thr185Asn)
c.5276C>A (p.Thr1759Asn)
c.5120C>A (p.Thr1707Asn)
c.452C>A
n.651C>A
c.662C>A (p.Thr221Asn)
n.252C>A
c.5462C>A (p.Thr1821Asn)
c.1316C>A (p.Thr439Asn)
c.719C>A (p.Thr240Asn)
19g.13231853T>ACA404334934CACNA1Ac.5257A>T (p.Thr1753Ser)
c.5263A>T (p.Thr1755Ser)
c.676A>T
n.481A>T
c.418A>T (p.Thr140Ser)
c.5260A>T (p.Thr1754Ser)
n.1246A>T
c.572A>T
c.352A>T (p.Thr118Ser)
c.5266A>T (p.Thr1756Ser)
c.553A>T (p.Thr185Ser)
c.5275A>T (p.Thr1759Ser)
c.5119A>T (p.Thr1707Ser)
c.451A>T
n.650A>T
c.661A>T (p.Thr221Ser)
n.251A>T
c.5461A>T (p.Thr1821Ser)
c.1315A>T (p.Thr439Ser)
c.718A>T (p.Thr240Ser)
19g.13231853T>CCA404334937CACNA1Ac.5257A>G (p.Thr1753Ala)
c.5263A>G (p.Thr1755Ala)
c.676A>G
n.481A>G
c.418A>G (p.Thr140Ala)
c.5260A>G (p.Thr1754Ala)
n.1246A>G
c.572A>G
c.352A>G (p.Thr118Ala)
c.5266A>G (p.Thr1756Ala)
c.553A>G (p.Thr185Ala)
c.5275A>G (p.Thr1759Ala)
c.5119A>G (p.Thr1707Ala)
c.451A>G
n.650A>G
c.661A>G (p.Thr221Ala)
n.251A>G
c.5461A>G (p.Thr1821Ala)
c.1315A>G (p.Thr439Ala)
c.718A>G (p.Thr240Ala)
19g.13231853T>GCA404334938CACNA1Ac.5257A>C (p.Thr1753Pro)
c.5263A>C (p.Thr1755Pro)
c.676A>C
n.481A>C
c.418A>C (p.Thr140Pro)
c.5260A>C (p.Thr1754Pro)
n.1246A>C
c.572A>C
c.352A>C (p.Thr118Pro)
c.5266A>C (p.Thr1756Pro)
c.553A>C (p.Thr185Pro)
c.5275A>C (p.Thr1759Pro)
c.5119A>C (p.Thr1707Pro)
c.451A>C
n.650A>C
c.661A>C (p.Thr221Pro)
n.251A>C
c.5461A>C (p.Thr1821Pro)
c.1315A>C (p.Thr439Pro)
c.718A>C (p.Thr240Pro)
19g.13231854G>ACA9239767CACNA1Ac.5256C>T (p.Ala1752=)
c.5262C>T (p.Ala1754=)
c.675C>T
n.480C>T
c.417C>T (p.Ala139=)
c.5259C>T (p.Ala1753=)
n.1245C>T
c.571C>T
c.351C>T (p.Ala117=)
c.5265C>T (p.Ala1755=)
c.552C>T (p.Ala184=)
c.5274C>T (p.Ala1758=)
c.5118C>T (p.Ala1706=)
c.450C>T
n.649C>T
c.660C>T (p.Ala220=)
n.250C>T
c.5460C>T (p.Ala1820=)
c.1314C>T (p.Ala438=)
c.717C>T (p.Ala239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13231854G>CCA505657181CACNA1Ac.5256C>G (p.Ala1752=)
c.5262C>G (p.Ala1754=)
c.675C>G
n.480C>G
c.417C>G (p.Ala139=)
c.5259C>G (p.Ala1753=)
n.1245C>G
c.571C>G
c.351C>G (p.Ala117=)
c.5265C>G (p.Ala1755=)
c.552C>G (p.Ala184=)
c.5274C>G (p.Ala1758=)
c.5118C>G (p.Ala1706=)
c.450C>G
n.649C>G
c.660C>G (p.Ala220=)
n.250C>G
c.5460C>G (p.Ala1820=)
c.1314C>G (p.Ala438=)
c.717C>G (p.Ala239=)
19g.13231854G=CA2323793819CACNA1Ac.5256C= (p.Ala1752=)
c.5262C= (p.Ala1754=)
c.675C=
n.480C=
c.417C= (p.Ala139=)
c.5259C= (p.Ala1753=)
n.1245C=
c.571C=
c.351C= (p.Ala117=)
c.5265C= (p.Ala1755=)
c.552C= (p.Ala184=)
c.5274C= (p.Ala1758=)
c.5118C= (p.Ala1706=)
c.450C=
n.649C=
c.660C= (p.Ala220=)
n.250C=
c.5460C= (p.Ala1820=)
c.1314C= (p.Ala438=)
c.717C= (p.Ala239=)
19g.13231854G>TCA505657180CACNA1Ac.5256C>A (p.Ala1752=)
c.5262C>A (p.Ala1754=)
c.675C>A
n.480C>A
c.417C>A (p.Ala139=)
c.5259C>A (p.Ala1753=)
n.1245C>A
c.571C>A
c.351C>A (p.Ala117=)
c.5265C>A (p.Ala1755=)
c.552C>A (p.Ala184=)
c.5274C>A (p.Ala1758=)
c.5118C>A (p.Ala1706=)
c.450C>A
n.649C>A
c.660C>A (p.Ala220=)
n.250C>A
c.5460C>A (p.Ala1820=)
c.1314C>A (p.Ala438=)
c.717C>A (p.Ala239=)
19g.13231855G>ACA404334942CACNA1Ac.5255C>T (p.Ala1752Val)
c.5261C>T (p.Ala1754Val)
c.674C>T
n.479C>T
c.416C>T (p.Ala139Val)
c.5258C>T (p.Ala1753Val)
n.1244C>T
c.570C>T
c.350C>T (p.Ala117Val)
c.5264C>T (p.Ala1755Val)
c.551C>T (p.Ala184Val)
c.5273C>T (p.Ala1758Val)
c.5117C>T (p.Ala1706Val)
c.449C>T
n.648C>T
c.659C>T (p.Ala220Val)
n.249C>T
c.5459C>T (p.Ala1820Val)
c.1313C>T (p.Ala438Val)
c.716C>T (p.Ala239Val)
19g.13231855G>CCA404334944CACNA1Ac.5255C>G (p.Ala1752Gly)
c.5261C>G (p.Ala1754Gly)
c.674C>G
n.479C>G
c.416C>G (p.Ala139Gly)
c.5258C>G (p.Ala1753Gly)
n.1244C>G
c.570C>G
c.350C>G (p.Ala117Gly)
c.5264C>G (p.Ala1755Gly)
c.551C>G (p.Ala184Gly)
c.5273C>G (p.Ala1758Gly)
c.5117C>G (p.Ala1706Gly)
c.449C>G
n.648C>G
c.659C>G (p.Ala220Gly)
n.249C>G
c.5459C>G (p.Ala1820Gly)
c.1313C>G (p.Ala438Gly)
c.716C>G (p.Ala239Gly)
19g.13231855G>TCA404334945CACNA1Ac.5255C>A (p.Ala1752Asp)
c.5261C>A (p.Ala1754Asp)
c.674C>A
n.479C>A
c.416C>A (p.Ala139Asp)
c.5258C>A (p.Ala1753Asp)
n.1244C>A
c.570C>A
c.350C>A (p.Ala117Asp)
c.5264C>A (p.Ala1755Asp)
c.551C>A (p.Ala184Asp)
c.5273C>A (p.Ala1758Asp)
c.5117C>A (p.Ala1706Asp)
c.449C>A
n.648C>A
c.659C>A (p.Ala220Asp)
n.249C>A
c.5459C>A (p.Ala1820Asp)
c.1313C>A (p.Ala438Asp)
c.716C>A (p.Ala239Asp)
19g.13231856C>ACA404334949CACNA1Ac.5254G>T (p.Ala1752Ser)
c.5260G>T (p.Ala1754Ser)
c.673G>T
n.478G>T
c.415G>T (p.Ala139Ser)
c.5257G>T (p.Ala1753Ser)
n.1243G>T
c.569G>T
c.349G>T (p.Ala117Ser)
c.5263G>T (p.Ala1755Ser)
c.550G>T (p.Ala184Ser)
c.5272G>T (p.Ala1758Ser)
c.5116G>T (p.Ala1706Ser)
c.448G>T
n.647G>T
c.658G>T (p.Ala220Ser)
n.248G>T
c.5458G>T (p.Ala1820Ser)
c.1312G>T (p.Ala438Ser)
c.715G>T (p.Ala239Ser)
19g.13231856C>GCA404334951CACNA1Ac.5254G>C (p.Ala1752Pro)
c.5260G>C (p.Ala1754Pro)
c.673G>C
n.478G>C
c.415G>C (p.Ala139Pro)
c.5257G>C (p.Ala1753Pro)
n.1243G>C
c.569G>C
c.349G>C (p.Ala117Pro)
c.5263G>C (p.Ala1755Pro)
c.550G>C (p.Ala184Pro)
c.5272G>C (p.Ala1758Pro)
c.5116G>C (p.Ala1706Pro)
c.448G>C
n.647G>C
c.658G>C (p.Ala220Pro)
n.248G>C
c.5458G>C (p.Ala1820Pro)
c.1312G>C (p.Ala438Pro)
c.715G>C (p.Ala239Pro)
19g.13231856C>TCA404334953CACNA1Ac.5254G>A (p.Ala1752Thr)
c.5260G>A (p.Ala1754Thr)
c.673G>A
n.478G>A
c.415G>A (p.Ala139Thr)
c.5257G>A (p.Ala1753Thr)
n.1243G>A
c.569G>A
c.349G>A (p.Ala117Thr)
c.5263G>A (p.Ala1755Thr)
c.550G>A (p.Ala184Thr)
c.5272G>A (p.Ala1758Thr)
c.5116G>A (p.Ala1706Thr)
c.448G>A
n.647G>A
c.658G>A (p.Ala220Thr)
n.248G>A
c.5458G>A (p.Ala1820Thr)
c.1312G>A (p.Ala438Thr)
c.715G>A (p.Ala239Thr)
19g.13231857A>CCA404334955CACNA1Ac.5253T>G (p.Ser1751Arg)
c.5259T>G (p.Ser1753Arg)
c.672T>G
n.477T>G
c.414T>G (p.Ser138Arg)
c.5256T>G (p.Ser1752Arg)
n.1242T>G
c.568T>G
c.348T>G (p.Ser116Arg)
c.5262T>G (p.Ser1754Arg)
c.549T>G (p.Ser183Arg)
c.5271T>G (p.Ser1757Arg)
c.5115T>G (p.Ser1705Arg)
c.447T>G
n.646T>G
c.657T>G (p.Ser219Arg)
n.247T>G
c.5457T>G (p.Ser1819Arg)
c.1311T>G (p.Ser437Arg)
c.714T>G (p.Ser238Arg)
 ClinVar dbSNP
19g.13231857A>GCA505657182CACNA1Ac.5253T>C (p.Ser1751=)
c.5259T>C (p.Ser1753=)
c.672T>C
n.477T>C
c.414T>C (p.Ser138=)
c.5256T>C (p.Ser1752=)
n.1242T>C
c.568T>C
c.348T>C (p.Ser116=)
c.5262T>C (p.Ser1754=)
c.549T>C (p.Ser183=)
c.5271T>C (p.Ser1757=)
c.5115T>C (p.Ser1705=)
c.447T>C
n.646T>C
c.657T>C (p.Ser219=)
n.247T>C
c.5457T>C (p.Ser1819=)
c.1311T>C (p.Ser437=)
c.714T>C (p.Ser238=)
19g.13231857A>TCA404334957CACNA1Ac.5253T>A (p.Ser1751Arg)
c.5259T>A (p.Ser1753Arg)
c.672T>A
n.477T>A
c.414T>A (p.Ser138Arg)
c.5256T>A (p.Ser1752Arg)
n.1242T>A
c.568T>A
c.348T>A (p.Ser116Arg)
c.5262T>A (p.Ser1754Arg)
c.549T>A (p.Ser183Arg)
c.5271T>A (p.Ser1757Arg)
c.5115T>A (p.Ser1705Arg)
c.447T>A
n.646T>A
c.657T>A (p.Ser219Arg)
n.247T>A
c.5457T>A (p.Ser1819Arg)
c.1311T>A (p.Ser437Arg)
c.714T>A (p.Ser238Arg)
19g.13231858C>ACA404334960CACNA1Ac.5252G>T (p.Ser1751Ile)
c.5258G>T (p.Ser1753Ile)
c.671G>T
n.476G>T
c.413G>T (p.Ser138Ile)
c.5255G>T (p.Ser1752Ile)
n.1241G>T
c.567G>T
c.347G>T (p.Ser116Ile)
c.5261G>T (p.Ser1754Ile)
c.548G>T (p.Ser183Ile)
c.5270G>T (p.Ser1757Ile)
c.5114G>T (p.Ser1705Ile)
c.446G>T
n.645G>T
c.656G>T (p.Ser219Ile)
n.246G>T
c.5456G>T (p.Ser1819Ile)
c.1310G>T (p.Ser437Ile)
c.713G>T (p.Ser238Ile)
19g.13231858C>GCA404334962CACNA1Ac.5252G>C (p.Ser1751Thr)
c.5258G>C (p.Ser1753Thr)
c.671G>C
n.476G>C
c.413G>C (p.Ser138Thr)
c.5255G>C (p.Ser1752Thr)
n.1241G>C
c.567G>C
c.347G>C (p.Ser116Thr)
c.5261G>C (p.Ser1754Thr)
c.548G>C (p.Ser183Thr)
c.5270G>C (p.Ser1757Thr)
c.5114G>C (p.Ser1705Thr)
c.446G>C
n.645G>C
c.656G>C (p.Ser219Thr)
n.246G>C
c.5456G>C (p.Ser1819Thr)
c.1310G>C (p.Ser437Thr)
c.713G>C (p.Ser238Thr)
19g.13231858C>TCA404334964CACNA1Ac.5252G>A (p.Ser1751Asn)
c.5258G>A (p.Ser1753Asn)
c.671G>A
n.476G>A
c.413G>A (p.Ser138Asn)
c.5255G>A (p.Ser1752Asn)
n.1241G>A
c.567G>A
c.347G>A (p.Ser116Asn)
c.5261G>A (p.Ser1754Asn)
c.548G>A (p.Ser183Asn)
c.5270G>A (p.Ser1757Asn)
c.5114G>A (p.Ser1705Asn)
c.446G>A
n.645G>A
c.656G>A (p.Ser219Asn)
n.246G>A
c.5456G>A (p.Ser1819Asn)
c.1310G>A (p.Ser437Asn)
c.713G>A (p.Ser238Asn)
19g.13231859T>ACA404334966CACNA1Ac.5251A>T (p.Ser1751Cys)
c.5257A>T (p.Ser1753Cys)
c.670A>T
n.475A>T
c.412A>T (p.Ser138Cys)
c.5254A>T (p.Ser1752Cys)
n.1240A>T
c.566A>T
c.346A>T (p.Ser116Cys)
c.5260A>T (p.Ser1754Cys)
c.547A>T (p.Ser183Cys)
c.5269A>T (p.Ser1757Cys)
c.5113A>T (p.Ser1705Cys)
c.445A>T
n.644A>T
c.655A>T (p.Ser219Cys)
n.245A>T
c.5455A>T (p.Ser1819Cys)
c.1309A>T (p.Ser437Cys)
c.712A>T (p.Ser238Cys)
19g.13231859T>CCA404334969CACNA1Ac.5251A>G (p.Ser1751Gly)
c.5257A>G (p.Ser1753Gly)
c.670A>G
n.475A>G
c.412A>G (p.Ser138Gly)
c.5254A>G (p.Ser1752Gly)
n.1240A>G
c.566A>G
c.346A>G (p.Ser116Gly)
c.5260A>G (p.Ser1754Gly)
c.547A>G (p.Ser183Gly)
c.5269A>G (p.Ser1757Gly)
c.5113A>G (p.Ser1705Gly)
c.445A>G
n.644A>G
c.655A>G (p.Ser219Gly)
n.245A>G
c.5455A>G (p.Ser1819Gly)
c.1309A>G (p.Ser437Gly)
c.712A>G (p.Ser238Gly)
19g.13231859T>GCA404334972CACNA1Ac.5251A>C (p.Ser1751Arg)
c.5257A>C (p.Ser1753Arg)
c.670A>C
n.475A>C
c.412A>C (p.Ser138Arg)
c.5254A>C (p.Ser1752Arg)
n.1240A>C
c.566A>C
c.346A>C (p.Ser116Arg)
c.5260A>C (p.Ser1754Arg)
c.547A>C (p.Ser183Arg)
c.5269A>C (p.Ser1757Arg)
c.5113A>C (p.Ser1705Arg)
c.445A>C
n.644A>C
c.655A>C (p.Ser219Arg)
n.245A>C
c.5455A>C (p.Ser1819Arg)
c.1309A>C (p.Ser437Arg)
c.712A>C (p.Ser238Arg)
 ClinVar
19g.13231860C>ACA505657183CACNA1Ac.5250G>T (p.Arg1750=)
c.5256G>T (p.Arg1752=)
c.669G>T
n.474G>T
c.411G>T (p.Arg137=)
c.5253G>T (p.Arg1751=)
n.1239G>T
c.565G>T
c.345G>T (p.Arg115=)
c.5259G>T (p.Arg1753=)
c.546G>T (p.Arg182=)
c.5268G>T (p.Arg1756=)
c.5112G>T (p.Arg1704=)
c.444G>T
n.643G>T
c.654G>T (p.Arg218=)
n.244G>T
c.5454G>T (p.Arg1818=)
c.1308G>T (p.Arg436=)
c.711G>T (p.Arg237=)
19g.13231860C=CA2323793820CACNA1Ac.5250G= (p.Arg1750=)
c.5256G= (p.Arg1752=)
c.669G=
n.474G=
c.411G= (p.Arg137=)
c.5253G= (p.Arg1751=)
n.1239G=
c.565G=
c.345G= (p.Arg115=)
c.5259G= (p.Arg1753=)
c.546G= (p.Arg182=)
c.5268G= (p.Arg1756=)
c.5112G= (p.Arg1704=)
c.444G=
n.643G=
c.654G= (p.Arg218=)
n.244G=
c.5454G= (p.Arg1818=)
c.1308G= (p.Arg436=)
c.711G= (p.Arg237=)
19g.13231860C>GCA505657184CACNA1Ac.5250G>C (p.Arg1750=)
c.5256G>C (p.Arg1752=)
c.669G>C
n.474G>C
c.411G>C (p.Arg137=)
c.5253G>C (p.Arg1751=)
n.1239G>C
c.565G>C
c.345G>C (p.Arg115=)
c.5259G>C (p.Arg1753=)
c.546G>C (p.Arg182=)
c.5268G>C (p.Arg1756=)
c.5112G>C (p.Arg1704=)
c.444G>C
n.643G>C
c.654G>C (p.Arg218=)
n.244G>C
c.5454G>C (p.Arg1818=)
c.1308G>C (p.Arg436=)
c.711G>C (p.Arg237=)
19g.13231860C>TCA505657185CACNA1Ac.5250G>A (p.Arg1750=)
c.5256G>A (p.Arg1752=)
c.669G>A
n.474G>A
c.411G>A (p.Arg137=)
c.5253G>A (p.Arg1751=)
n.1239G>A
c.565G>A
c.345G>A (p.Arg115=)
c.5259G>A (p.Arg1753=)
c.546G>A (p.Arg182=)
c.5268G>A (p.Arg1756=)
c.5112G>A (p.Arg1704=)
c.444G>A
n.643G>A
c.654G>A (p.Arg218=)
n.244G>A
c.5454G>A (p.Arg1818=)
c.1308G>A (p.Arg436=)
c.711G>A (p.Arg237=)
 dbSNP gnomAD v3 gnomAD v4
19g.13231861C>ACA404334974CACNA1Ac.5250-1G>T (n.5250-1G>T)
c.5256-1G>T (n.5256-1G>T)
c.669-1G>T
n.474-1G>T
c.411-1G>T (n.411-1G>T)
c.5253-1G>T (n.5253-1G>T)
n.1239-1G>T
c.565-1G>T
c.345-1G>T (n.345-1G>T)
c.5259-1G>T (n.5259-1G>T)
c.546-1G>T (n.546-1G>T)
c.5268-1G>T (n.5268-1G>T)
c.5112-1G>T (n.5112-1G>T)
c.444-1G>T
n.643-1G>T
c.654-1G>T (n.654-1G>T)
n.244-1G>T
c.5454-1G>T (n.5454-1G>T)
c.1308-1G>T (n.1308-1G>T)
c.711-1G>T (n.711-1G>T)
19g.13231861C>GCA404334976CACNA1Ac.5250-1G>C (n.5250-1G>C)
c.5256-1G>C (n.5256-1G>C)
c.669-1G>C
n.474-1G>C
c.411-1G>C (n.411-1G>C)
c.5253-1G>C (n.5253-1G>C)
n.1239-1G>C
c.565-1G>C
c.345-1G>C (n.345-1G>C)
c.5259-1G>C (n.5259-1G>C)
c.546-1G>C (n.546-1G>C)
c.5268-1G>C (n.5268-1G>C)
c.5112-1G>C (n.5112-1G>C)
c.444-1G>C
n.643-1G>C
c.654-1G>C (n.654-1G>C)
n.244-1G>C
c.5454-1G>C (n.5454-1G>C)
c.1308-1G>C (n.1308-1G>C)
c.711-1G>C (n.711-1G>C)
19g.13231861C>TCA404334978CACNA1Ac.5250-1G>A (n.5250-1G>A)
c.5256-1G>A (n.5256-1G>A)
c.669-1G>A
n.474-1G>A
c.411-1G>A (n.411-1G>A)
c.5253-1G>A (n.5253-1G>A)
n.1239-1G>A
c.565-1G>A
c.345-1G>A (n.345-1G>A)
c.5259-1G>A (n.5259-1G>A)
c.546-1G>A (n.546-1G>A)
c.5268-1G>A (n.5268-1G>A)
c.5112-1G>A (n.5112-1G>A)
c.444-1G>A
n.643-1G>A
c.654-1G>A (n.654-1G>A)
n.244-1G>A
c.5454-1G>A (n.5454-1G>A)
c.1308-1G>A (n.1308-1G>A)
c.711-1G>A (n.711-1G>A)
19g.13231862T>ACA404334980CACNA1Ac.5250-2A>T (n.5250-2A>T)
c.5256-2A>T (n.5256-2A>T)
c.669-2A>T
n.474-2A>T
c.411-2A>T (n.411-2A>T)
c.5253-2A>T (n.5253-2A>T)
n.1239-2A>T
c.565-2A>T
c.345-2A>T (n.345-2A>T)
c.5259-2A>T (n.5259-2A>T)
c.546-2A>T (n.546-2A>T)
c.5268-2A>T (n.5268-2A>T)
c.5112-2A>T (n.5112-2A>T)
c.444-2A>T
n.643-2A>T
c.654-2A>T (n.654-2A>T)
n.244-2A>T
c.5454-2A>T (n.5454-2A>T)
c.1308-2A>T (n.1308-2A>T)
c.711-2A>T (n.711-2A>T)
19g.13231862T>CCA404334982CACNA1Ac.5250-2A>G (n.5250-2A>G)
c.5256-2A>G (n.5256-2A>G)
c.669-2A>G
n.474-2A>G
c.411-2A>G (n.411-2A>G)
c.5253-2A>G (n.5253-2A>G)
n.1239-2A>G
c.565-2A>G
c.345-2A>G (n.345-2A>G)
c.5259-2A>G (n.5259-2A>G)
c.546-2A>G (n.546-2A>G)
c.5268-2A>G (n.5268-2A>G)
c.5112-2A>G (n.5112-2A>G)
c.444-2A>G
n.643-2A>G
c.654-2A>G (n.654-2A>G)
n.244-2A>G
c.5454-2A>G (n.5454-2A>G)
c.1308-2A>G (n.1308-2A>G)
c.711-2A>G (n.711-2A>G)
 ClinVar
19g.13231862T>GCA404334984CACNA1Ac.5250-2A>C (n.5250-2A>C)
c.5256-2A>C (n.5256-2A>C)
c.669-2A>C
n.474-2A>C
c.411-2A>C (n.411-2A>C)
c.5253-2A>C (n.5253-2A>C)
n.1239-2A>C
c.565-2A>C
c.345-2A>C (n.345-2A>C)
c.5259-2A>C (n.5259-2A>C)
c.546-2A>C (n.546-2A>C)
c.5268-2A>C (n.5268-2A>C)
c.5112-2A>C (n.5112-2A>C)
c.444-2A>C
n.643-2A>C
c.654-2A>C (n.654-2A>C)
n.244-2A>C
c.5454-2A>C (n.5454-2A>C)
c.1308-2A>C (n.1308-2A>C)
c.711-2A>C (n.711-2A>C)
19g.13231865G>TCA2582818683CACNA1Ac.5250-5C>A (n.5250-5C>A)
c.5256-5C>A (n.5256-5C>A)
c.669-5C>A
n.474-5C>A
c.411-5C>A (n.411-5C>A)
c.5253-5C>A (n.5253-5C>A)
n.1239-5C>A
c.565-5C>A
c.345-5C>A (n.345-5C>A)
c.5259-5C>A (n.5259-5C>A)
c.546-5C>A (n.546-5C>A)
c.5268-5C>A (n.5268-5C>A)
c.5112-5C>A (n.5112-5C>A)
c.444-5C>A
n.643-5C>A
c.654-5C>A (n.654-5C>A)
n.244-5C>A
c.5454-5C>A (n.5454-5C>A)
c.1308-5C>A (n.1308-5C>A)
c.711-5C>A (n.711-5C>A)
 gnomAD v4
19g.13231866G>ACA9239768CACNA1Ac.5250-6C>T (n.5250-6C>T)
c.5256-6C>T (n.5256-6C>T)
c.669-6C>T
n.474-6C>T
c.411-6C>T (n.411-6C>T)
c.5253-6C>T (n.5253-6C>T)
n.1239-6C>T
c.565-6C>T
c.345-6C>T (n.345-6C>T)
c.5259-6C>T (n.5259-6C>T)
c.546-6C>T (n.546-6C>T)
c.5268-6C>T (n.5268-6C>T)
c.5112-6C>T (n.5112-6C>T)
c.444-6C>T
n.643-6C>T
c.654-6C>T (n.654-6C>T)
n.244-6C>T
c.5454-6C>T (n.5454-6C>T)
c.1308-6C>T (n.1308-6C>T)
c.711-6C>T (n.711-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13231866G=CA2323793821CACNA1Ac.5250-6C= (n.5250-6C=)
c.5256-6C= (n.5256-6C=)
c.669-6C=
n.474-6C=
c.411-6C= (n.411-6C=)
c.5253-6C= (n.5253-6C=)
n.1239-6C=
c.565-6C=
c.345-6C= (n.345-6C=)
c.5259-6C= (n.5259-6C=)
c.546-6C= (n.546-6C=)
c.5268-6C= (n.5268-6C=)
c.5112-6C= (n.5112-6C=)
c.444-6C=
n.643-6C=
c.654-6C= (n.654-6C=)
n.244-6C=
c.5454-6C= (n.5454-6C=)
c.1308-6C= (n.1308-6C=)
c.711-6C= (n.711-6C=)
19g.13231867A=CA2323793822CACNA1Ac.5250-7T= (n.5250-7T=)
c.5256-7T= (n.5256-7T=)
c.669-7T=
n.474-7T=
c.411-7T= (n.411-7T=)
c.5253-7T= (n.5253-7T=)
n.1239-7T=
c.565-7T=
c.345-7T= (n.345-7T=)
c.5259-7T= (n.5259-7T=)
c.546-7T= (n.546-7T=)
c.5268-7T= (n.5268-7T=)
c.5112-7T= (n.5112-7T=)
c.444-7T=
n.643-7T=
c.654-7T= (n.654-7T=)
n.244-7T=
c.5454-7T= (n.5454-7T=)
c.1308-7T= (n.1308-7T=)
c.711-7T= (n.711-7T=)
19g.13231867A>GCA783428106CACNA1Ac.5250-7T>C (n.5250-7T>C)
c.5256-7T>C (n.5256-7T>C)
c.669-7T>C
n.474-7T>C
c.411-7T>C (n.411-7T>C)
c.5253-7T>C (n.5253-7T>C)
n.1239-7T>C
c.565-7T>C
c.345-7T>C (n.345-7T>C)
c.5259-7T>C (n.5259-7T>C)
c.546-7T>C (n.546-7T>C)
c.5268-7T>C (n.5268-7T>C)
c.5112-7T>C (n.5112-7T>C)
c.444-7T>C
n.643-7T>C
c.654-7T>C (n.654-7T>C)
n.244-7T>C
c.5454-7T>C (n.5454-7T>C)
c.1308-7T>C (n.1308-7T>C)
c.711-7T>C (n.711-7T>C)
 dbSNP
19g.13231868C=CA2323793824CACNA1Ac.5250-8G= (n.5250-8G=)
c.5256-8G= (n.5256-8G=)
c.669-8G=
n.474-8G=
c.411-8G= (n.411-8G=)
c.5253-8G= (n.5253-8G=)
n.1239-8G=
c.565-8G=
c.345-8G= (n.345-8G=)
c.5259-8G= (n.5259-8G=)
c.546-8G= (n.546-8G=)
c.5268-8G= (n.5268-8G=)
c.5112-8G= (n.5112-8G=)
c.444-8G=
n.643-8G=
c.654-8G= (n.654-8G=)
n.244-8G=
c.5454-8G= (n.5454-8G=)
c.1308-8G= (n.1308-8G=)
c.711-8G= (n.711-8G=)
19g.13231868C>GCA658799161CACNA1Ac.5250-8G>C (n.5250-8G>C)
c.5256-8G>C (n.5256-8G>C)
c.669-8G>C
n.474-8G>C
c.411-8G>C (n.411-8G>C)
c.5253-8G>C (n.5253-8G>C)
n.1239-8G>C
c.565-8G>C
c.345-8G>C (n.345-8G>C)
c.5259-8G>C (n.5259-8G>C)
c.546-8G>C (n.546-8G>C)
c.5268-8G>C (n.5268-8G>C)
c.5112-8G>C (n.5112-8G>C)
c.444-8G>C
n.643-8G>C
c.654-8G>C (n.654-8G>C)
n.244-8G>C
c.5454-8G>C (n.5454-8G>C)
c.1308-8G>C (n.1308-8G>C)
c.711-8G>C (n.711-8G>C)
 ClinVar dbSNP

Number of alleles fetched