Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13230097T>ACA404333264CACNA1Ac.5513A>T (p.Tyr1838Phe)
c.5519A>T (p.Tyr1840Phe)
n.737A>T
c.674A>T (p.Tyr225Phe)
c.5516A>T (p.Tyr1839Phe)
n.1502A>T
c.495+1613A>T (n.495+1613A>T)
c.5522A>T (p.Tyr1841Phe)
c.140A>T (p.Tyr47Phe)
c.5531A>T (p.Tyr1844Phe)
c.5375A>T (p.Tyr1792Phe)
c.707A>T
c.917A>T (p.Tyr306Phe)
n.507A>T
c.5717A>T (p.Tyr1906Phe)
c.1571A>T (p.Tyr524Phe)
c.974A>T (p.Tyr325Phe)
19g.13230097T>CCA404333267CACNA1Ac.5513A>G (p.Tyr1838Cys)
c.5519A>G (p.Tyr1840Cys)
n.737A>G
c.674A>G (p.Tyr225Cys)
c.5516A>G (p.Tyr1839Cys)
n.1502A>G
c.495+1613A>G (n.495+1613A>G)
c.5522A>G (p.Tyr1841Cys)
c.140A>G (p.Tyr47Cys)
c.5531A>G (p.Tyr1844Cys)
c.5375A>G (p.Tyr1792Cys)
c.707A>G
c.917A>G (p.Tyr306Cys)
n.507A>G
c.5717A>G (p.Tyr1906Cys)
c.1571A>G (p.Tyr524Cys)
c.974A>G (p.Tyr325Cys)
 gnomAD v4
19g.13230097T>GCA404333271CACNA1Ac.5513A>C (p.Tyr1838Ser)
c.5519A>C (p.Tyr1840Ser)
n.737A>C
c.674A>C (p.Tyr225Ser)
c.5516A>C (p.Tyr1839Ser)
n.1502A>C
c.495+1613A>C (n.495+1613A>C)
c.5522A>C (p.Tyr1841Ser)
c.140A>C (p.Tyr47Ser)
c.5531A>C (p.Tyr1844Ser)
c.5375A>C (p.Tyr1792Ser)
c.707A>C
c.917A>C (p.Tyr306Ser)
n.507A>C
c.5717A>C (p.Tyr1906Ser)
c.1571A>C (p.Tyr524Ser)
c.974A>C (p.Tyr325Ser)
19g.13230098A>CCA404333278CACNA1Ac.5512T>G (p.Tyr1838Asp)
c.5518T>G (p.Tyr1840Asp)
n.736T>G
c.673T>G (p.Tyr225Asp)
c.5515T>G (p.Tyr1839Asp)
n.1501T>G
c.495+1612T>G (n.495+1612T>G)
c.5521T>G (p.Tyr1841Asp)
c.139T>G (p.Tyr47Asp)
c.5530T>G (p.Tyr1844Asp)
c.5374T>G (p.Tyr1792Asp)
c.706T>G
c.916T>G (p.Tyr306Asp)
n.506T>G
c.5716T>G (p.Tyr1906Asp)
c.1570T>G (p.Tyr524Asp)
c.973T>G (p.Tyr325Asp)
19g.13230098A>GCA404333280CACNA1Ac.5512T>C (p.Tyr1838His)
c.5518T>C (p.Tyr1840His)
n.736T>C
c.673T>C (p.Tyr225His)
c.5515T>C (p.Tyr1839His)
n.1501T>C
c.495+1612T>C (n.495+1612T>C)
c.5521T>C (p.Tyr1841His)
c.139T>C (p.Tyr47His)
c.5530T>C (p.Tyr1844His)
c.5374T>C (p.Tyr1792His)
c.706T>C
c.916T>C (p.Tyr306His)
n.506T>C
c.5716T>C (p.Tyr1906His)
c.1570T>C (p.Tyr524His)
c.973T>C (p.Tyr325His)
19g.13230098A>TCA404333285CACNA1Ac.5512T>A (p.Tyr1838Asn)
c.5518T>A (p.Tyr1840Asn)
n.736T>A
c.673T>A (p.Tyr225Asn)
c.5515T>A (p.Tyr1839Asn)
n.1501T>A
c.495+1612T>A (n.495+1612T>A)
c.5521T>A (p.Tyr1841Asn)
c.139T>A (p.Tyr47Asn)
c.5530T>A (p.Tyr1844Asn)
c.5374T>A (p.Tyr1792Asn)
c.706T>A
c.916T>A (p.Tyr306Asn)
n.506T>A
c.5716T>A (p.Tyr1906Asn)
c.1570T>A (p.Tyr524Asn)
c.973T>A (p.Tyr325Asn)
19g.13230099C>ACA404333294CACNA1Ac.5511G>T (p.Glu1837Asp)
c.5517G>T (p.Glu1839Asp)
n.735G>T
c.672G>T (p.Glu224Asp)
c.5514G>T (p.Glu1838Asp)
n.1500G>T
c.495+1611G>T (n.495+1611G>T)
c.5520G>T (p.Glu1840Asp)
c.138G>T (p.Glu46Asp)
c.5529G>T (p.Glu1843Asp)
c.5373G>T (p.Glu1791Asp)
c.705G>T
c.915G>T (p.Glu305Asp)
n.505G>T
c.5715G>T (p.Glu1905Asp)
c.1569G>T (p.Glu523Asp)
c.972G>T (p.Glu324Asp)
 dbSNP
19g.13230099C=CA2323793021CACNA1Ac.5511G= (p.Glu1837=)
c.5517G= (p.Glu1839=)
n.735G=
c.672G= (p.Glu224=)
c.5514G= (p.Glu1838=)
n.1500G=
c.495+1611G= (n.495+1611G=)
c.5520G= (p.Glu1840=)
c.138G= (p.Glu46=)
c.5529G= (p.Glu1843=)
c.5373G= (p.Glu1791=)
c.705G=
c.915G= (p.Glu305=)
n.505G=
c.5715G= (p.Glu1905=)
c.1569G= (p.Glu523=)
c.972G= (p.Glu324=)
19g.13230099C>GCA404333296CACNA1Ac.5511G>C (p.Glu1837Asp)
c.5517G>C (p.Glu1839Asp)
n.735G>C
c.672G>C (p.Glu224Asp)
c.5514G>C (p.Glu1838Asp)
n.1500G>C
c.495+1611G>C (n.495+1611G>C)
c.5520G>C (p.Glu1840Asp)
c.138G>C (p.Glu46Asp)
c.5529G>C (p.Glu1843Asp)
c.5373G>C (p.Glu1791Asp)
c.705G>C
c.915G>C (p.Glu305Asp)
n.505G>C
c.5715G>C (p.Glu1905Asp)
c.1569G>C (p.Glu523Asp)
c.972G>C (p.Glu324Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13230099C>TCA505657026CACNA1Ac.5511G>A (p.Glu1837=)
c.5517G>A (p.Glu1839=)
n.735G>A
c.672G>A (p.Glu224=)
c.5514G>A (p.Glu1838=)
n.1500G>A
c.495+1611G>A (n.495+1611G>A)
c.5520G>A (p.Glu1840=)
c.138G>A (p.Glu46=)
c.5529G>A (p.Glu1843=)
c.5373G>A (p.Glu1791=)
c.705G>A
c.915G>A (p.Glu305=)
n.505G>A
c.5715G>A (p.Glu1905=)
c.1569G>A (p.Glu523=)
c.972G>A (p.Glu324=)
 dbSNP gnomAD v2 gnomAD v4
19g.13230100T>ACA404333299CACNA1Ac.5510A>T (p.Glu1837Val)
c.5516A>T (p.Glu1839Val)
n.734A>T
c.671A>T (p.Glu224Val)
c.5513A>T (p.Glu1838Val)
n.1499A>T
c.495+1610A>T (n.495+1610A>T)
c.5519A>T (p.Glu1840Val)
c.137A>T (p.Glu46Val)
c.5528A>T (p.Glu1843Val)
c.5372A>T (p.Glu1791Val)
c.704A>T
c.914A>T (p.Glu305Val)
n.504A>T
c.5714A>T (p.Glu1905Val)
c.1568A>T (p.Glu523Val)
c.971A>T (p.Glu324Val)
19g.13230100T>CCA404333305CACNA1Ac.5510A>G (p.Glu1837Gly)
c.5516A>G (p.Glu1839Gly)
n.734A>G
c.671A>G (p.Glu224Gly)
c.5513A>G (p.Glu1838Gly)
n.1499A>G
c.495+1610A>G (n.495+1610A>G)
c.5519A>G (p.Glu1840Gly)
c.137A>G (p.Glu46Gly)
c.5528A>G (p.Glu1843Gly)
c.5372A>G (p.Glu1791Gly)
c.704A>G
c.914A>G (p.Glu305Gly)
n.504A>G
c.5714A>G (p.Glu1905Gly)
c.1568A>G (p.Glu523Gly)
c.971A>G (p.Glu324Gly)
19g.13230100T>GCA404333302CACNA1Ac.5510A>C (p.Glu1837Ala)
c.5516A>C (p.Glu1839Ala)
n.734A>C
c.671A>C (p.Glu224Ala)
c.5513A>C (p.Glu1838Ala)
n.1499A>C
c.495+1610A>C (n.495+1610A>C)
c.5519A>C (p.Glu1840Ala)
c.137A>C (p.Glu46Ala)
c.5528A>C (p.Glu1843Ala)
c.5372A>C (p.Glu1791Ala)
c.704A>C
c.914A>C (p.Glu305Ala)
n.504A>C
c.5714A>C (p.Glu1905Ala)
c.1568A>C (p.Glu523Ala)
c.971A>C (p.Glu324Ala)
19g.13230101C>ACA404333310CACNA1Ac.5509G>T (p.Glu1837Ter)
c.5515G>T (p.Glu1839Ter)
n.733G>T
c.670G>T (p.Glu224Ter)
c.5512G>T (p.Glu1838Ter)
n.1498G>T
c.495+1609G>T (n.495+1609G>T)
c.5518G>T (p.Glu1840Ter)
c.136G>T (p.Glu46Ter)
c.5527G>T (p.Glu1843Ter)
c.5371G>T (p.Glu1791Ter)
c.703G>T
c.913G>T (p.Glu305Ter)
n.503G>T
c.5713G>T (p.Glu1905Ter)
c.1567G>T (p.Glu523Ter)
c.970G>T (p.Glu324Ter)
19g.13230101C=CA2323793022CACNA1Ac.5509G= (p.Glu1837=)
c.5515G= (p.Glu1839=)
n.733G=
c.670G= (p.Glu224=)
c.5512G= (p.Glu1838=)
n.1498G=
c.495+1609G= (n.495+1609G=)
c.5518G= (p.Glu1840=)
c.136G= (p.Glu46=)
c.5527G= (p.Glu1843=)
c.5371G= (p.Glu1791=)
c.703G=
c.913G= (p.Glu305=)
n.503G=
c.5713G= (p.Glu1905=)
c.1567G= (p.Glu523=)
c.970G= (p.Glu324=)
19g.13230101C>GCA404333314CACNA1Ac.5509G>C (p.Glu1837Gln)
c.5515G>C (p.Glu1839Gln)
n.733G>C
c.670G>C (p.Glu224Gln)
c.5512G>C (p.Glu1838Gln)
n.1498G>C
c.495+1609G>C (n.495+1609G>C)
c.5518G>C (p.Glu1840Gln)
c.136G>C (p.Glu46Gln)
c.5527G>C (p.Glu1843Gln)
c.5371G>C (p.Glu1791Gln)
c.703G>C
c.913G>C (p.Glu305Gln)
n.503G>C
c.5713G>C (p.Glu1905Gln)
c.1567G>C (p.Glu523Gln)
c.970G>C (p.Glu324Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13230101C>TCA404333319CACNA1Ac.5509G>A (p.Glu1837Lys)
c.5515G>A (p.Glu1839Lys)
n.733G>A
c.670G>A (p.Glu224Lys)
c.5512G>A (p.Glu1838Lys)
n.1498G>A
c.495+1609G>A (n.495+1609G>A)
c.5518G>A (p.Glu1840Lys)
c.136G>A (p.Glu46Lys)
c.5527G>A (p.Glu1843Lys)
c.5371G>A (p.Glu1791Lys)
c.703G>A
c.913G>A (p.Glu305Lys)
n.503G>A
c.5713G>A (p.Glu1905Lys)
c.1567G>A (p.Glu523Lys)
c.970G>A (p.Glu324Lys)
 ClinVar dbSNP gnomAD v4
19g.13230102G>ACA9239723CACNA1Ac.5508C>T (p.Ala1836=)
c.5514C>T (p.Ala1838=)
n.732C>T
c.669C>T (p.Ala223=)
c.5511C>T (p.Ala1837=)
n.1497C>T
c.495+1608C>T (n.495+1608C>T)
c.5517C>T (p.Ala1839=)
c.135C>T (p.Ala45=)
c.5526C>T (p.Ala1842=)
c.5370C>T (p.Ala1790=)
c.702C>T
c.912C>T (p.Ala304=)
n.502C>T
c.5712C>T (p.Ala1904=)
c.1566C>T (p.Ala522=)
c.969C>T (p.Ala323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13230102G>CCA505657027CACNA1Ac.5508C>G (p.Ala1836=)
c.5514C>G (p.Ala1838=)
n.732C>G
c.669C>G (p.Ala223=)
c.5511C>G (p.Ala1837=)
n.1497C>G
c.495+1608C>G (n.495+1608C>G)
c.5517C>G (p.Ala1839=)
c.135C>G (p.Ala45=)
c.5526C>G (p.Ala1842=)
c.5370C>G (p.Ala1790=)
c.702C>G
c.912C>G (p.Ala304=)
n.502C>G
c.5712C>G (p.Ala1904=)
c.1566C>G (p.Ala522=)
c.969C>G (p.Ala323=)
19g.13230102G=CA2323793023CACNA1Ac.5508C= (p.Ala1836=)
c.5514C= (p.Ala1838=)
n.732C=
c.669C= (p.Ala223=)
c.5511C= (p.Ala1837=)
n.1497C=
c.495+1608C= (n.495+1608C=)
c.5517C= (p.Ala1839=)
c.135C= (p.Ala45=)
c.5526C= (p.Ala1842=)
c.5370C= (p.Ala1790=)
c.702C=
c.912C= (p.Ala304=)
n.502C=
c.5712C= (p.Ala1904=)
c.1566C= (p.Ala522=)
c.969C= (p.Ala323=)
19g.13230102G>TCA505657028CACNA1Ac.5508C>A (p.Ala1836=)
c.5514C>A (p.Ala1838=)
n.732C>A
c.669C>A (p.Ala223=)
c.5511C>A (p.Ala1837=)
n.1497C>A
c.495+1608C>A (n.495+1608C>A)
c.5517C>A (p.Ala1839=)
c.135C>A (p.Ala45=)
c.5526C>A (p.Ala1842=)
c.5370C>A (p.Ala1790=)
c.702C>A
c.912C>A (p.Ala304=)
n.502C>A
c.5712C>A (p.Ala1904=)
c.1566C>A (p.Ala522=)
c.969C>A (p.Ala323=)
19g.13230103G>ACA404333328CACNA1Ac.5507C>T (p.Ala1836Val)
c.5513C>T (p.Ala1838Val)
n.731C>T
c.668C>T (p.Ala223Val)
c.5510C>T (p.Ala1837Val)
n.1496C>T
c.495+1607C>T (n.495+1607C>T)
c.5516C>T (p.Ala1839Val)
c.134C>T (p.Ala45Val)
c.5525C>T (p.Ala1842Val)
c.5369C>T (p.Ala1790Val)
c.701C>T
c.911C>T (p.Ala304Val)
n.501C>T
c.5711C>T (p.Ala1904Val)
c.1565C>T (p.Ala522Val)
c.968C>T (p.Ala323Val)
 gnomAD v4
19g.13230103G>CCA404333329CACNA1Ac.5507C>G (p.Ala1836Gly)
c.5513C>G (p.Ala1838Gly)
n.731C>G
c.668C>G (p.Ala223Gly)
c.5510C>G (p.Ala1837Gly)
n.1496C>G
c.495+1607C>G (n.495+1607C>G)
c.5516C>G (p.Ala1839Gly)
c.134C>G (p.Ala45Gly)
c.5525C>G (p.Ala1842Gly)
c.5369C>G (p.Ala1790Gly)
c.701C>G
c.911C>G (p.Ala304Gly)
n.501C>G
c.5711C>G (p.Ala1904Gly)
c.1565C>G (p.Ala522Gly)
c.968C>G (p.Ala323Gly)
19g.13230103G>TCA404333331CACNA1Ac.5507C>A (p.Ala1836Asp)
c.5513C>A (p.Ala1838Asp)
n.731C>A
c.668C>A (p.Ala223Asp)
c.5510C>A (p.Ala1837Asp)
n.1496C>A
c.495+1607C>A (n.495+1607C>A)
c.5516C>A (p.Ala1839Asp)
c.134C>A (p.Ala45Asp)
c.5525C>A (p.Ala1842Asp)
c.5369C>A (p.Ala1790Asp)
c.701C>A
c.911C>A (p.Ala304Asp)
n.501C>A
c.5711C>A (p.Ala1904Asp)
c.1565C>A (p.Ala522Asp)
c.968C>A (p.Ala323Asp)
19g.13230104C>ACA404333335CACNA1Ac.5506G>T (p.Ala1836Ser)
c.5512G>T (p.Ala1838Ser)
n.730G>T
c.667G>T (p.Ala223Ser)
c.5509G>T (p.Ala1837Ser)
n.1495G>T
c.495+1606G>T (n.495+1606G>T)
c.5515G>T (p.Ala1839Ser)
c.133G>T (p.Ala45Ser)
c.5524G>T (p.Ala1842Ser)
c.5368G>T (p.Ala1790Ser)
c.700G>T
c.910G>T (p.Ala304Ser)
n.500G>T
c.5710G>T (p.Ala1904Ser)
c.1564G>T (p.Ala522Ser)
c.967G>T (p.Ala323Ser)
19g.13230104C>GCA404333338CACNA1Ac.5506G>C (p.Ala1836Pro)
c.5512G>C (p.Ala1838Pro)
n.730G>C
c.667G>C (p.Ala223Pro)
c.5509G>C (p.Ala1837Pro)
n.1495G>C
c.495+1606G>C (n.495+1606G>C)
c.5515G>C (p.Ala1839Pro)
c.133G>C (p.Ala45Pro)
c.5524G>C (p.Ala1842Pro)
c.5368G>C (p.Ala1790Pro)
c.700G>C
c.910G>C (p.Ala304Pro)
n.500G>C
c.5710G>C (p.Ala1904Pro)
c.1564G>C (p.Ala522Pro)
c.967G>C (p.Ala323Pro)
19g.13230104C>TCA404333342CACNA1Ac.5506G>A (p.Ala1836Thr)
c.5512G>A (p.Ala1838Thr)
n.730G>A
c.667G>A (p.Ala223Thr)
c.5509G>A (p.Ala1837Thr)
n.1495G>A
c.495+1606G>A (n.495+1606G>A)
c.5515G>A (p.Ala1839Thr)
c.133G>A (p.Ala45Thr)
c.5524G>A (p.Ala1842Thr)
c.5368G>A (p.Ala1790Thr)
c.700G>A
c.910G>A (p.Ala304Thr)
n.500G>A
c.5710G>A (p.Ala1904Thr)
c.1564G>A (p.Ala522Thr)
c.967G>A (p.Ala323Thr)
 ClinVar
19g.13230105C>ACA404333346CACNA1Ac.5505G>T (p.Trp1835Cys)
c.5511G>T (p.Trp1837Cys)
n.729G>T
c.666G>T (p.Trp222Cys)
c.5508G>T (p.Trp1836Cys)
n.1494G>T
c.495+1605G>T (n.495+1605G>T)
c.5514G>T (p.Trp1838Cys)
c.132G>T (p.Trp44Cys)
c.5523G>T (p.Trp1841Cys)
c.5367G>T (p.Trp1789Cys)
c.699G>T
c.909G>T (p.Trp303Cys)
n.499G>T
c.5709G>T (p.Trp1903Cys)
c.1563G>T (p.Trp521Cys)
c.966G>T (p.Trp322Cys)
19g.13230105C>GCA404333351CACNA1Ac.5505G>C (p.Trp1835Cys)
c.5511G>C (p.Trp1837Cys)
n.729G>C
c.666G>C (p.Trp222Cys)
c.5508G>C (p.Trp1836Cys)
n.1494G>C
c.495+1605G>C (n.495+1605G>C)
c.5514G>C (p.Trp1838Cys)
c.132G>C (p.Trp44Cys)
c.5523G>C (p.Trp1841Cys)
c.5367G>C (p.Trp1789Cys)
c.699G>C
c.909G>C (p.Trp303Cys)
n.499G>C
c.5709G>C (p.Trp1903Cys)
c.1563G>C (p.Trp521Cys)
c.966G>C (p.Trp322Cys)
19g.13230105C>TCA404333356CACNA1Ac.5505G>A (p.Trp1835Ter)
c.5511G>A (p.Trp1837Ter)
n.729G>A
c.666G>A (p.Trp222Ter)
c.5508G>A (p.Trp1836Ter)
n.1494G>A
c.495+1605G>A (n.495+1605G>A)
c.5514G>A (p.Trp1838Ter)
c.132G>A (p.Trp44Ter)
c.5523G>A (p.Trp1841Ter)
c.5367G>A (p.Trp1789Ter)
c.699G>A
c.909G>A (p.Trp303Ter)
n.499G>A
c.5709G>A (p.Trp1903Ter)
c.1563G>A (p.Trp521Ter)
c.966G>A (p.Trp322Ter)
19g.13230106C>ACA404333368CACNA1Ac.5504G>T (p.Trp1835Leu)
c.5510G>T (p.Trp1837Leu)
n.728G>T
c.665G>T (p.Trp222Leu)
c.5507G>T (p.Trp1836Leu)
n.1493G>T
c.495+1604G>T (n.495+1604G>T)
c.5513G>T (p.Trp1838Leu)
c.131G>T (p.Trp44Leu)
c.5522G>T (p.Trp1841Leu)
c.5366G>T (p.Trp1789Leu)
c.698G>T
c.908G>T (p.Trp303Leu)
n.498G>T
c.5708G>T (p.Trp1903Leu)
c.1562G>T (p.Trp521Leu)
c.965G>T (p.Trp322Leu)
19g.13230106C>GCA404333360CACNA1Ac.5504G>C (p.Trp1835Ser)
c.5510G>C (p.Trp1837Ser)
n.728G>C
c.665G>C (p.Trp222Ser)
c.5507G>C (p.Trp1836Ser)
n.1493G>C
c.495+1604G>C (n.495+1604G>C)
c.5513G>C (p.Trp1838Ser)
c.131G>C (p.Trp44Ser)
c.5522G>C (p.Trp1841Ser)
c.5366G>C (p.Trp1789Ser)
c.698G>C
c.908G>C (p.Trp303Ser)
n.498G>C
c.5708G>C (p.Trp1903Ser)
c.1562G>C (p.Trp521Ser)
c.965G>C (p.Trp322Ser)
19g.13230106C>TCA404333365CACNA1Ac.5504G>A (p.Trp1835Ter)
c.5510G>A (p.Trp1837Ter)
n.728G>A
c.665G>A (p.Trp222Ter)
c.5507G>A (p.Trp1836Ter)
n.1493G>A
c.495+1604G>A (n.495+1604G>A)
c.5513G>A (p.Trp1838Ter)
c.131G>A (p.Trp44Ter)
c.5522G>A (p.Trp1841Ter)
c.5366G>A (p.Trp1789Ter)
c.698G>A
c.908G>A (p.Trp303Ter)
n.498G>A
c.5708G>A (p.Trp1903Ter)
c.1562G>A (p.Trp521Ter)
c.965G>A (p.Trp322Ter)
19g.13230107A>CCA404333372CACNA1Ac.5503T>G (p.Trp1835Gly)
c.5509T>G (p.Trp1837Gly)
n.727T>G
c.664T>G (p.Trp222Gly)
c.5506T>G (p.Trp1836Gly)
n.1492T>G
c.495+1603T>G (n.495+1603T>G)
c.5512T>G (p.Trp1838Gly)
c.130T>G (p.Trp44Gly)
c.5521T>G (p.Trp1841Gly)
c.5365T>G (p.Trp1789Gly)
c.697T>G
c.907T>G (p.Trp303Gly)
n.497T>G
c.5707T>G (p.Trp1903Gly)
c.1561T>G (p.Trp521Gly)
c.964T>G (p.Trp322Gly)
19g.13230107A>GCA404333373CACNA1Ac.5503T>C (p.Trp1835Arg)
c.5509T>C (p.Trp1837Arg)
n.727T>C
c.664T>C (p.Trp222Arg)
c.5506T>C (p.Trp1836Arg)
n.1492T>C
c.495+1603T>C (n.495+1603T>C)
c.5512T>C (p.Trp1838Arg)
c.130T>C (p.Trp44Arg)
c.5521T>C (p.Trp1841Arg)
c.5365T>C (p.Trp1789Arg)
c.697T>C
c.907T>C (p.Trp303Arg)
n.497T>C
c.5707T>C (p.Trp1903Arg)
c.1561T>C (p.Trp521Arg)
c.964T>C (p.Trp322Arg)
19g.13230107A>TCA404333374CACNA1Ac.5503T>A (p.Trp1835Arg)
c.5509T>A (p.Trp1837Arg)
n.727T>A
c.664T>A (p.Trp222Arg)
c.5506T>A (p.Trp1836Arg)
n.1492T>A
c.495+1603T>A (n.495+1603T>A)
c.5512T>A (p.Trp1838Arg)
c.130T>A (p.Trp44Arg)
c.5521T>A (p.Trp1841Arg)
c.5365T>A (p.Trp1789Arg)
c.697T>A
c.907T>A (p.Trp303Arg)
n.497T>A
c.5707T>A (p.Trp1903Arg)
c.1561T>A (p.Trp521Arg)
c.964T>A (p.Trp322Arg)
19g.13230108G>ACA505657029CACNA1Ac.5502C>T (p.Val1834=)
c.5508C>T (p.Val1836=)
n.726C>T
c.663C>T (p.Val221=)
c.5505C>T (p.Val1835=)
n.1491C>T
c.495+1602C>T (n.495+1602C>T)
c.5511C>T (p.Val1837=)
c.129C>T (p.Val43=)
c.5520C>T (p.Val1840=)
c.5364C>T (p.Val1788=)
c.696C>T
c.906C>T (p.Val302=)
n.496C>T
c.5706C>T (p.Val1902=)
c.1560C>T (p.Val520=)
c.963C>T (p.Val321=)
19g.13230108G>CCA505657030CACNA1Ac.5502C>G (p.Val1834=)
c.5508C>G (p.Val1836=)
n.726C>G
c.663C>G (p.Val221=)
c.5505C>G (p.Val1835=)
n.1491C>G
c.495+1602C>G (n.495+1602C>G)
c.5511C>G (p.Val1837=)
c.129C>G (p.Val43=)
c.5520C>G (p.Val1840=)
c.5364C>G (p.Val1788=)
c.696C>G
c.906C>G (p.Val302=)
n.496C>G
c.5706C>G (p.Val1902=)
c.1560C>G (p.Val520=)
c.963C>G (p.Val321=)
19g.13230108G>TCA505657031CACNA1Ac.5502C>A (p.Val1834=)
c.5508C>A (p.Val1836=)
n.726C>A
c.663C>A (p.Val221=)
c.5505C>A (p.Val1835=)
n.1491C>A
c.495+1602C>A (n.495+1602C>A)
c.5511C>A (p.Val1837=)
c.129C>A (p.Val43=)
c.5520C>A (p.Val1840=)
c.5364C>A (p.Val1788=)
c.696C>A
c.906C>A (p.Val302=)
n.496C>A
c.5706C>A (p.Val1902=)
c.1560C>A (p.Val520=)
c.963C>A (p.Val321=)
19g.13230109A>CCA404333376CACNA1Ac.5501T>G (p.Val1834Gly)
c.5507T>G (p.Val1836Gly)
n.725T>G
c.662T>G (p.Val221Gly)
c.5504T>G (p.Val1835Gly)
n.1490T>G
c.495+1601T>G (n.495+1601T>G)
c.5510T>G (p.Val1837Gly)
c.128T>G (p.Val43Gly)
c.5519T>G (p.Val1840Gly)
c.5363T>G (p.Val1788Gly)
c.695T>G
c.905T>G (p.Val302Gly)
n.495T>G
c.5705T>G (p.Val1902Gly)
c.1559T>G (p.Val520Gly)
c.962T>G (p.Val321Gly)
19g.13230109A>GCA404333378CACNA1Ac.5501T>C (p.Val1834Ala)
c.5507T>C (p.Val1836Ala)
n.725T>C
c.662T>C (p.Val221Ala)
c.5504T>C (p.Val1835Ala)
n.1490T>C
c.495+1601T>C (n.495+1601T>C)
c.5510T>C (p.Val1837Ala)
c.128T>C (p.Val43Ala)
c.5519T>C (p.Val1840Ala)
c.5363T>C (p.Val1788Ala)
c.695T>C
c.905T>C (p.Val302Ala)
n.495T>C
c.5705T>C (p.Val1902Ala)
c.1559T>C (p.Val520Ala)
c.962T>C (p.Val321Ala)
19g.13230109A>TCA404333380CACNA1Ac.5501T>A (p.Val1834Asp)
c.5507T>A (p.Val1836Asp)
n.725T>A
c.662T>A (p.Val221Asp)
c.5504T>A (p.Val1835Asp)
n.1490T>A
c.495+1601T>A (n.495+1601T>A)
c.5510T>A (p.Val1837Asp)
c.128T>A (p.Val43Asp)
c.5519T>A (p.Val1840Asp)
c.5363T>A (p.Val1788Asp)
c.695T>A
c.905T>A (p.Val302Asp)
n.495T>A
c.5705T>A (p.Val1902Asp)
c.1559T>A (p.Val520Asp)
c.962T>A (p.Val321Asp)
19g.13230110C>ACA404333383CACNA1Ac.5500G>T (p.Val1834Phe)
c.5506G>T (p.Val1836Phe)
n.724G>T
c.661G>T (p.Val221Phe)
c.5503G>T (p.Val1835Phe)
n.1489G>T
c.495+1600G>T (n.495+1600G>T)
c.5509G>T (p.Val1837Phe)
c.127G>T (p.Val43Phe)
c.5518G>T (p.Val1840Phe)
c.5362G>T (p.Val1788Phe)
c.694G>T
c.904G>T (p.Val302Phe)
n.494G>T
c.5704G>T (p.Val1902Phe)
c.1558G>T (p.Val520Phe)
c.961G>T (p.Val321Phe)
19g.13230110C>GCA404333386CACNA1Ac.5500G>C (p.Val1834Leu)
c.5506G>C (p.Val1836Leu)
n.724G>C
c.661G>C (p.Val221Leu)
c.5503G>C (p.Val1835Leu)
n.1489G>C
c.495+1600G>C (n.495+1600G>C)
c.5509G>C (p.Val1837Leu)
c.127G>C (p.Val43Leu)
c.5518G>C (p.Val1840Leu)
c.5362G>C (p.Val1788Leu)
c.694G>C
c.904G>C (p.Val302Leu)
n.494G>C
c.5704G>C (p.Val1902Leu)
c.1558G>C (p.Val520Leu)
c.961G>C (p.Val321Leu)
19g.13230110C>TCA404333388CACNA1Ac.5500G>A (p.Val1834Ile)
c.5506G>A (p.Val1836Ile)
n.724G>A
c.661G>A (p.Val221Ile)
c.5503G>A (p.Val1835Ile)
n.1489G>A
c.495+1600G>A (n.495+1600G>A)
c.5509G>A (p.Val1837Ile)
c.127G>A (p.Val43Ile)
c.5518G>A (p.Val1840Ile)
c.5362G>A (p.Val1788Ile)
c.694G>A
c.904G>A (p.Val302Ile)
n.494G>A
c.5704G>A (p.Val1902Ile)
c.1558G>A (p.Val520Ile)
c.961G>A (p.Val321Ile)
19g.13230111A>CCA505657032CACNA1Ac.5499T>G (p.Arg1833=)
c.5505T>G (p.Arg1835=)
n.723T>G
c.660T>G (p.Arg220=)
c.5502T>G (p.Arg1834=)
n.1488T>G
c.495+1599T>G (n.495+1599T>G)
c.5508T>G (p.Arg1836=)
c.126T>G (p.Arg42=)
c.5517T>G (p.Arg1839=)
c.5361T>G (p.Arg1787=)
c.693T>G
c.903T>G (p.Arg301=)
n.493T>G
c.5703T>G (p.Arg1901=)
c.1557T>G (p.Arg519=)
c.960T>G (p.Arg320=)
19g.13230111A>GCA505657033CACNA1Ac.5499T>C (p.Arg1833=)
c.5505T>C (p.Arg1835=)
n.723T>C
c.660T>C (p.Arg220=)
c.5502T>C (p.Arg1834=)
n.1488T>C
c.495+1599T>C (n.495+1599T>C)
c.5508T>C (p.Arg1836=)
c.126T>C (p.Arg42=)
c.5517T>C (p.Arg1839=)
c.5361T>C (p.Arg1787=)
c.693T>C
c.903T>C (p.Arg301=)
n.493T>C
c.5703T>C (p.Arg1901=)
c.1557T>C (p.Arg519=)
c.960T>C (p.Arg320=)
19g.13230111A>TCA505657034CACNA1Ac.5499T>A (p.Arg1833=)
c.5505T>A (p.Arg1835=)
n.723T>A
c.660T>A (p.Arg220=)
c.5502T>A (p.Arg1834=)
n.1488T>A
c.495+1599T>A (n.495+1599T>A)
c.5508T>A (p.Arg1836=)
c.126T>A (p.Arg42=)
c.5517T>A (p.Arg1839=)
c.5361T>A (p.Arg1787=)
c.693T>A
c.903T>A (p.Arg301=)
n.493T>A
c.5703T>A (p.Arg1901=)
c.1557T>A (p.Arg519=)
c.960T>A (p.Arg320=)
19g.13230112C>ACA404333391CACNA1Ac.5498G>T (p.Arg1833Leu)
c.5504G>T (p.Arg1835Leu)
n.722G>T
c.659G>T (p.Arg220Leu)
c.5501G>T (p.Arg1834Leu)
n.1487G>T
c.495+1598G>T (n.495+1598G>T)
c.5507G>T (p.Arg1836Leu)
c.125G>T (p.Arg42Leu)
c.5516G>T (p.Arg1839Leu)
c.5360G>T (p.Arg1787Leu)
c.692G>T
c.902G>T (p.Arg301Leu)
n.492G>T
c.5702G>T (p.Arg1901Leu)
c.1556G>T (p.Arg519Leu)
c.959G>T (p.Arg320Leu)
19g.13230112C>GCA404333393CACNA1Ac.5498G>C (p.Arg1833Pro)
c.5504G>C (p.Arg1835Pro)
n.722G>C
c.659G>C (p.Arg220Pro)
c.5501G>C (p.Arg1834Pro)
n.1487G>C
c.495+1598G>C (n.495+1598G>C)
c.5507G>C (p.Arg1836Pro)
c.125G>C (p.Arg42Pro)
c.5516G>C (p.Arg1839Pro)
c.5360G>C (p.Arg1787Pro)
c.692G>C
c.902G>C (p.Arg301Pro)
n.492G>C
c.5702G>C (p.Arg1901Pro)
c.1556G>C (p.Arg519Pro)
c.959G>C (p.Arg320Pro)
 ClinVar
19g.13230112C>TCA404333395CACNA1Ac.5498G>A (p.Arg1833His)
c.5504G>A (p.Arg1835His)
n.722G>A
c.659G>A (p.Arg220His)
c.5501G>A (p.Arg1834His)
n.1487G>A
c.495+1598G>A (n.495+1598G>A)
c.5507G>A (p.Arg1836His)
c.125G>A (p.Arg42His)
c.5516G>A (p.Arg1839His)
c.5360G>A (p.Arg1787His)
c.692G>A
c.902G>A (p.Arg301His)
n.492G>A
c.5702G>A (p.Arg1901His)
c.1556G>A (p.Arg519His)
c.959G>A (p.Arg320His)
 ClinVar gnomAD v4
19g.13230113G>ACA404333398CACNA1Ac.5497C>T (p.Arg1833Cys)
c.5503C>T (p.Arg1835Cys)
n.721C>T
c.658C>T (p.Arg220Cys)
c.5500C>T (p.Arg1834Cys)
n.1486C>T
c.495+1597C>T (n.495+1597C>T)
c.5506C>T (p.Arg1836Cys)
c.124C>T (p.Arg42Cys)
c.5515C>T (p.Arg1839Cys)
c.5359C>T (p.Arg1787Cys)
c.691C>T
c.901C>T (p.Arg301Cys)
n.491C>T
c.5701C>T (p.Arg1901Cys)
c.1555C>T (p.Arg519Cys)
c.958C>T (p.Arg320Cys)
19g.13230113G>CCA404333403CACNA1Ac.5497C>G (p.Arg1833Gly)
c.5503C>G (p.Arg1835Gly)
n.721C>G
c.658C>G (p.Arg220Gly)
c.5500C>G (p.Arg1834Gly)
n.1486C>G
c.495+1597C>G (n.495+1597C>G)
c.5506C>G (p.Arg1836Gly)
c.124C>G (p.Arg42Gly)
c.5515C>G (p.Arg1839Gly)
c.5359C>G (p.Arg1787Gly)
c.691C>G
c.901C>G (p.Arg301Gly)
n.491C>G
c.5701C>G (p.Arg1901Gly)
c.1555C>G (p.Arg519Gly)
c.958C>G (p.Arg320Gly)
19g.13230113G>TCA404333400CACNA1Ac.5497C>A (p.Arg1833Ser)
c.5503C>A (p.Arg1835Ser)
n.721C>A
c.658C>A (p.Arg220Ser)
c.5500C>A (p.Arg1834Ser)
n.1486C>A
c.495+1597C>A (n.495+1597C>A)
c.5506C>A (p.Arg1836Ser)
c.124C>A (p.Arg42Ser)
c.5515C>A (p.Arg1839Ser)
c.5359C>A (p.Arg1787Ser)
c.691C>A
c.901C>A (p.Arg301Ser)
n.491C>A
c.5701C>A (p.Arg1901Ser)
c.1555C>A (p.Arg519Ser)
c.958C>A (p.Arg320Ser)
19g.13230114C>ACA505657035CACNA1Ac.5496G>T (p.Val1832=)
c.5502G>T (p.Val1834=)
n.720G>T
c.657G>T (p.Val219=)
c.5499G>T (p.Val1833=)
n.1485G>T
c.495+1596G>T (n.495+1596G>T)
c.5505G>T (p.Val1835=)
c.123G>T (p.Val41=)
c.5514G>T (p.Val1838=)
c.5358G>T (p.Val1786=)
c.690G>T
c.900G>T (p.Val300=)
n.490G>T
c.5700G>T (p.Val1900=)
c.1554G>T (p.Val518=)
c.957G>T (p.Val319=)
19g.13230114C>GCA505657036CACNA1Ac.5496G>C (p.Val1832=)
c.5502G>C (p.Val1834=)
n.720G>C
c.657G>C (p.Val219=)
c.5499G>C (p.Val1833=)
n.1485G>C
c.495+1596G>C (n.495+1596G>C)
c.5505G>C (p.Val1835=)
c.123G>C (p.Val41=)
c.5514G>C (p.Val1838=)
c.5358G>C (p.Val1786=)
c.690G>C
c.900G>C (p.Val300=)
n.490G>C
c.5700G>C (p.Val1900=)
c.1554G>C (p.Val518=)
c.957G>C (p.Val319=)
19g.13230114C>TCA505657037CACNA1Ac.5496G>A (p.Val1832=)
c.5502G>A (p.Val1834=)
n.720G>A
c.657G>A (p.Val219=)
c.5499G>A (p.Val1833=)
n.1485G>A
c.495+1596G>A (n.495+1596G>A)
c.5505G>A (p.Val1835=)
c.123G>A (p.Val41=)
c.5514G>A (p.Val1838=)
c.5358G>A (p.Val1786=)
c.690G>A
c.900G>A (p.Val300=)
n.490G>A
c.5700G>A (p.Val1900=)
c.1554G>A (p.Val518=)
c.957G>A (p.Val319=)
 dbSNP
19g.13230115A>CCA404333406CACNA1Ac.5495T>G (p.Val1832Gly)
c.5501T>G (p.Val1834Gly)
n.719T>G
c.656T>G (p.Val219Gly)
c.5498T>G (p.Val1833Gly)
n.1484T>G
c.495+1595T>G (n.495+1595T>G)
c.5504T>G (p.Val1835Gly)
c.122T>G (p.Val41Gly)
c.5513T>G (p.Val1838Gly)
c.5357T>G (p.Val1786Gly)
c.689T>G
c.899T>G (p.Val300Gly)
n.489T>G
c.5699T>G (p.Val1900Gly)
c.1553T>G (p.Val518Gly)
c.956T>G (p.Val319Gly)
19g.13230115A>GCA404333411CACNA1Ac.5495T>C (p.Val1832Ala)
c.5501T>C (p.Val1834Ala)
n.719T>C
c.656T>C (p.Val219Ala)
c.5498T>C (p.Val1833Ala)
n.1484T>C
c.495+1595T>C (n.495+1595T>C)
c.5504T>C (p.Val1835Ala)
c.122T>C (p.Val41Ala)
c.5513T>C (p.Val1838Ala)
c.5357T>C (p.Val1786Ala)
c.689T>C
c.899T>C (p.Val300Ala)
n.489T>C
c.5699T>C (p.Val1900Ala)
c.1553T>C (p.Val518Ala)
c.956T>C (p.Val319Ala)
19g.13230115A>TCA404333408CACNA1Ac.5495T>A (p.Val1832Glu)
c.5501T>A (p.Val1834Glu)
n.719T>A
c.656T>A (p.Val219Glu)
c.5498T>A (p.Val1833Glu)
n.1484T>A
c.495+1595T>A (n.495+1595T>A)
c.5504T>A (p.Val1835Glu)
c.122T>A (p.Val41Glu)
c.5513T>A (p.Val1838Glu)
c.5357T>A (p.Val1786Glu)
c.689T>A
c.899T>A (p.Val300Glu)
n.489T>A
c.5699T>A (p.Val1900Glu)
c.1553T>A (p.Val518Glu)
c.956T>A (p.Val319Glu)
19g.13230116C>ACA404333413CACNA1Ac.5494G>T (p.Val1832Leu)
c.5500G>T (p.Val1834Leu)
n.718G>T
c.655G>T (p.Val219Leu)
c.5497G>T (p.Val1833Leu)
n.1483G>T
c.495+1594G>T (n.495+1594G>T)
c.5503G>T (p.Val1835Leu)
c.121G>T (p.Val41Leu)
c.5512G>T (p.Val1838Leu)
c.5356G>T (p.Val1786Leu)
c.688G>T
c.898G>T (p.Val300Leu)
n.488G>T
c.5698G>T (p.Val1900Leu)
c.1552G>T (p.Val518Leu)
c.955G>T (p.Val319Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13230116C=CA2323793024CACNA1Ac.5494G= (p.Val1832=)
c.5500G= (p.Val1834=)
n.718G=
c.655G= (p.Val219=)
c.5497G= (p.Val1833=)
n.1483G=
c.495+1594G= (n.495+1594G=)
c.5503G= (p.Val1835=)
c.121G= (p.Val41=)
c.5512G= (p.Val1838=)
c.5356G= (p.Val1786=)
c.688G=
c.898G= (p.Val300=)
n.488G=
c.5698G= (p.Val1900=)
c.1552G= (p.Val518=)
c.955G= (p.Val319=)
19g.13230116C>GCA404333415CACNA1Ac.5494G>C (p.Val1832Leu)
c.5500G>C (p.Val1834Leu)
n.718G>C
c.655G>C (p.Val219Leu)
c.5497G>C (p.Val1833Leu)
n.1483G>C
c.495+1594G>C (n.495+1594G>C)
c.5503G>C (p.Val1835Leu)
c.121G>C (p.Val41Leu)
c.5512G>C (p.Val1838Leu)
c.5356G>C (p.Val1786Leu)
c.688G>C
c.898G>C (p.Val300Leu)
n.488G>C
c.5698G>C (p.Val1900Leu)
c.1552G>C (p.Val518Leu)
c.955G>C (p.Val319Leu)
 gnomAD v4
19g.13230116C>TCA9239724CACNA1Ac.5494G>A (p.Val1832Met)
c.5500G>A (p.Val1834Met)
n.718G>A
c.655G>A (p.Val219Met)
c.5497G>A (p.Val1833Met)
n.1483G>A
c.495+1594G>A (n.495+1594G>A)
c.5503G>A (p.Val1835Met)
c.121G>A (p.Val41Met)
c.5512G>A (p.Val1838Met)
c.5356G>A (p.Val1786Met)
c.688G>A
c.898G>A (p.Val300Met)
n.488G>A
c.5698G>A (p.Val1900Met)
c.1552G>A (p.Val518Met)
c.955G>A (p.Val319Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13230117G>ACA9239725CACNA1Ac.5493C>T (p.Tyr1831=)
c.5499C>T (p.Tyr1833=)
n.717C>T
c.654C>T (p.Tyr218=)
c.5496C>T (p.Tyr1832=)
n.1482C>T
c.495+1593C>T (n.495+1593C>T)
c.5502C>T (p.Tyr1834=)
c.120C>T (p.Tyr40=)
c.5511C>T (p.Tyr1837=)
c.5355C>T (p.Tyr1785=)
c.687C>T
c.897C>T (p.Tyr299=)
n.487C>T
c.5697C>T (p.Tyr1899=)
c.1551C>T (p.Tyr517=)
c.954C>T (p.Tyr318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.13230117G>CCA404333420CACNA1Ac.5493C>G (p.Tyr1831Ter)
c.5499C>G (p.Tyr1833Ter)
n.717C>G
c.654C>G (p.Tyr218Ter)
c.5496C>G (p.Tyr1832Ter)
n.1482C>G
c.495+1593C>G (n.495+1593C>G)
c.5502C>G (p.Tyr1834Ter)
c.120C>G (p.Tyr40Ter)
c.5511C>G (p.Tyr1837Ter)
c.5355C>G (p.Tyr1785Ter)
c.687C>G
c.897C>G (p.Tyr299Ter)
n.487C>G
c.5697C>G (p.Tyr1899Ter)
c.1551C>G (p.Tyr517Ter)
c.954C>G (p.Tyr318Ter)
19g.13230117G=CA2323793025CACNA1Ac.5493C= (p.Tyr1831=)
c.5499C= (p.Tyr1833=)
n.717C=
c.654C= (p.Tyr218=)
c.5496C= (p.Tyr1832=)
n.1482C=
c.495+1593C= (n.495+1593C=)
c.5502C= (p.Tyr1834=)
c.120C= (p.Tyr40=)
c.5511C= (p.Tyr1837=)
c.5355C= (p.Tyr1785=)
c.687C=
c.897C= (p.Tyr299=)
n.487C=
c.5697C= (p.Tyr1899=)
c.1551C= (p.Tyr517=)
c.954C= (p.Tyr318=)
19g.13230117G>TCA404333423CACNA1Ac.5493C>A (p.Tyr1831Ter)
c.5499C>A (p.Tyr1833Ter)
n.717C>A
c.654C>A (p.Tyr218Ter)
c.5496C>A (p.Tyr1832Ter)
n.1482C>A
c.495+1593C>A (n.495+1593C>A)
c.5502C>A (p.Tyr1834Ter)
c.120C>A (p.Tyr40Ter)
c.5511C>A (p.Tyr1837Ter)
c.5355C>A (p.Tyr1785Ter)
c.687C>A
c.897C>A (p.Tyr299Ter)
n.487C>A
c.5697C>A (p.Tyr1899Ter)
c.1551C>A (p.Tyr517Ter)
c.954C>A (p.Tyr318Ter)
19g.13230118T>ACA404333426CACNA1Ac.5492A>T (p.Tyr1831Phe)
c.5498A>T (p.Tyr1833Phe)
n.716A>T
c.653A>T (p.Tyr218Phe)
c.5495A>T (p.Tyr1832Phe)
n.1481A>T
c.495+1592A>T (n.495+1592A>T)
c.5501A>T (p.Tyr1834Phe)
c.119A>T (p.Tyr40Phe)
c.5510A>T (p.Tyr1837Phe)
c.5354A>T (p.Tyr1785Phe)
c.686A>T
c.896A>T (p.Tyr299Phe)
n.486A>T
c.5696A>T (p.Tyr1899Phe)
c.1550A>T (p.Tyr517Phe)
c.953A>T (p.Tyr318Phe)
19g.13230118T>CCA404333429CACNA1Ac.5492A>G (p.Tyr1831Cys)
c.5498A>G (p.Tyr1833Cys)
n.716A>G
c.653A>G (p.Tyr218Cys)
c.5495A>G (p.Tyr1832Cys)
n.1481A>G
c.495+1592A>G (n.495+1592A>G)
c.5501A>G (p.Tyr1834Cys)
c.119A>G (p.Tyr40Cys)
c.5510A>G (p.Tyr1837Cys)
c.5354A>G (p.Tyr1785Cys)
c.686A>G
c.896A>G (p.Tyr299Cys)
n.486A>G
c.5696A>G (p.Tyr1899Cys)
c.1550A>G (p.Tyr517Cys)
c.953A>G (p.Tyr318Cys)
 gnomAD v4
19g.13230118T>GCA404333431CACNA1Ac.5492A>C (p.Tyr1831Ser)
c.5498A>C (p.Tyr1833Ser)
n.716A>C
c.653A>C (p.Tyr218Ser)
c.5495A>C (p.Tyr1832Ser)
n.1481A>C
c.495+1592A>C (n.495+1592A>C)
c.5501A>C (p.Tyr1834Ser)
c.119A>C (p.Tyr40Ser)
c.5510A>C (p.Tyr1837Ser)
c.5354A>C (p.Tyr1785Ser)
c.686A>C
c.896A>C (p.Tyr299Ser)
n.486A>C
c.5696A>C (p.Tyr1899Ser)
c.1550A>C (p.Tyr517Ser)
c.953A>C (p.Tyr318Ser)
19g.13230119A>CCA404333434CACNA1Ac.5491T>G (p.Tyr1831Asp)
c.5497T>G (p.Tyr1833Asp)
n.715T>G
c.652T>G (p.Tyr218Asp)
c.5494T>G (p.Tyr1832Asp)
n.1480T>G
c.495+1591T>G (n.495+1591T>G)
c.5500T>G (p.Tyr1834Asp)
c.118T>G (p.Tyr40Asp)
c.5509T>G (p.Tyr1837Asp)
c.5353T>G (p.Tyr1785Asp)
c.685T>G
c.895T>G (p.Tyr299Asp)
n.485T>G
c.5695T>G (p.Tyr1899Asp)
c.1549T>G (p.Tyr517Asp)
c.952T>G (p.Tyr318Asp)
19g.13230119A>GCA404333436CACNA1Ac.5491T>C (p.Tyr1831His)
c.5497T>C (p.Tyr1833His)
n.715T>C
c.652T>C (p.Tyr218His)
c.5494T>C (p.Tyr1832His)
n.1480T>C
c.495+1591T>C (n.495+1591T>C)
c.5500T>C (p.Tyr1834His)
c.118T>C (p.Tyr40His)
c.5509T>C (p.Tyr1837His)
c.5353T>C (p.Tyr1785His)
c.685T>C
c.895T>C (p.Tyr299His)
n.485T>C
c.5695T>C (p.Tyr1899His)
c.1549T>C (p.Tyr517His)
c.952T>C (p.Tyr318His)
19g.13230119A>TCA404333437CACNA1Ac.5491T>A (p.Tyr1831Asn)
c.5497T>A (p.Tyr1833Asn)
n.715T>A
c.652T>A (p.Tyr218Asn)
c.5494T>A (p.Tyr1832Asn)
n.1480T>A
c.495+1591T>A (n.495+1591T>A)
c.5500T>A (p.Tyr1834Asn)
c.118T>A (p.Tyr40Asn)
c.5509T>A (p.Tyr1837Asn)
c.5353T>A (p.Tyr1785Asn)
c.685T>A
c.895T>A (p.Tyr299Asn)
n.485T>A
c.5695T>A (p.Tyr1899Asn)
c.1549T>A (p.Tyr517Asn)
c.952T>A (p.Tyr318Asn)
19g.13230120C>ACA404333443CACNA1Ac.5490G>T (p.Glu1830Asp)
c.5496G>T (p.Glu1832Asp)
n.714G>T
c.651G>T (p.Glu217Asp)
c.5493G>T (p.Glu1831Asp)
n.1479G>T
c.495+1590G>T (n.495+1590G>T)
c.5499G>T (p.Glu1833Asp)
c.117G>T (p.Glu39Asp)
c.5508G>T (p.Glu1836Asp)
c.5352G>T (p.Glu1784Asp)
c.684G>T
c.894G>T (p.Glu298Asp)
n.484G>T
c.5694G>T (p.Glu1898Asp)
c.1548G>T (p.Glu516Asp)
c.951G>T (p.Glu317Asp)
19g.13230120C=CA2323793026CACNA1Ac.5490G= (p.Glu1830=)
c.5496G= (p.Glu1832=)
n.714G=
c.651G= (p.Glu217=)
c.5493G= (p.Glu1831=)
n.1479G=
c.495+1590G= (n.495+1590G=)
c.5499G= (p.Glu1833=)
c.117G= (p.Glu39=)
c.5508G= (p.Glu1836=)
c.5352G= (p.Glu1784=)
c.684G=
c.894G= (p.Glu298=)
n.484G=
c.5694G= (p.Glu1898=)
c.1548G= (p.Glu516=)
c.951G= (p.Glu317=)
19g.13230120C>GCA404333440CACNA1Ac.5490G>C (p.Glu1830Asp)
c.5496G>C (p.Glu1832Asp)
n.714G>C
c.651G>C (p.Glu217Asp)
c.5493G>C (p.Glu1831Asp)
n.1479G>C
c.495+1590G>C (n.495+1590G>C)
c.5499G>C (p.Glu1833Asp)
c.117G>C (p.Glu39Asp)
c.5508G>C (p.Glu1836Asp)
c.5352G>C (p.Glu1784Asp)
c.684G>C
c.894G>C (p.Glu298Asp)
n.484G>C
c.5694G>C (p.Glu1898Asp)
c.1548G>C (p.Glu516Asp)
c.951G>C (p.Glu317Asp)
19g.13230120C>TCA505657038CACNA1Ac.5490G>A (p.Glu1830=)
c.5496G>A (p.Glu1832=)
n.714G>A
c.651G>A (p.Glu217=)
c.5493G>A (p.Glu1831=)
n.1479G>A
c.495+1590G>A (n.495+1590G>A)
c.5499G>A (p.Glu1833=)
c.117G>A (p.Glu39=)
c.5508G>A (p.Glu1836=)
c.5352G>A (p.Glu1784=)
c.684G>A
c.894G>A (p.Glu298=)
n.484G>A
c.5694G>A (p.Glu1898=)
c.1548G>A (p.Glu516=)
c.951G>A (p.Glu317=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13230121T>ACA404333445CACNA1Ac.5489A>T (p.Glu1830Val)
c.5495A>T (p.Glu1832Val)
n.713A>T
c.650A>T (p.Glu217Val)
c.5492A>T (p.Glu1831Val)
n.1478A>T
c.495+1589A>T (n.495+1589A>T)
c.5498A>T (p.Glu1833Val)
c.116A>T (p.Glu39Val)
c.5507A>T (p.Glu1836Val)
c.5351A>T (p.Glu1784Val)
c.683A>T
c.893A>T (p.Glu298Val)
n.483A>T
c.5693A>T (p.Glu1898Val)
c.1547A>T (p.Glu516Val)
c.950A>T (p.Glu317Val)
19g.13230121T>CCA404333447CACNA1Ac.5489A>G (p.Glu1830Gly)
c.5495A>G (p.Glu1832Gly)
n.713A>G
c.650A>G (p.Glu217Gly)
c.5492A>G (p.Glu1831Gly)
n.1478A>G
c.495+1589A>G (n.495+1589A>G)
c.5498A>G (p.Glu1833Gly)
c.116A>G (p.Glu39Gly)
c.5507A>G (p.Glu1836Gly)
c.5351A>G (p.Glu1784Gly)
c.683A>G
c.893A>G (p.Glu298Gly)
n.483A>G
c.5693A>G (p.Glu1898Gly)
c.1547A>G (p.Glu516Gly)
c.950A>G (p.Glu317Gly)
19g.13230121T>GCA404333449CACNA1Ac.5489A>C (p.Glu1830Ala)
c.5495A>C (p.Glu1832Ala)
n.713A>C
c.650A>C (p.Glu217Ala)
c.5492A>C (p.Glu1831Ala)
n.1478A>C
c.495+1589A>C (n.495+1589A>C)
c.5498A>C (p.Glu1833Ala)
c.116A>C (p.Glu39Ala)
c.5507A>C (p.Glu1836Ala)
c.5351A>C (p.Glu1784Ala)
c.683A>C
c.893A>C (p.Glu298Ala)
n.483A>C
c.5693A>C (p.Glu1898Ala)
c.1547A>C (p.Glu516Ala)
c.950A>C (p.Glu317Ala)
19g.13230122C>ACA404333451CACNA1Ac.5488G>T (p.Glu1830Ter)
c.5494G>T (p.Glu1832Ter)
n.712G>T
c.649G>T (p.Glu217Ter)
c.5491G>T (p.Glu1831Ter)
n.1477G>T
c.495+1588G>T (n.495+1588G>T)
c.5497G>T (p.Glu1833Ter)
c.115G>T (p.Glu39Ter)
c.5506G>T (p.Glu1836Ter)
c.5350G>T (p.Glu1784Ter)
c.682G>T
c.892G>T (p.Glu298Ter)
n.482G>T
c.5692G>T (p.Glu1898Ter)
c.1546G>T (p.Glu516Ter)
c.949G>T (p.Glu317Ter)
19g.13230122C=CA2323793027CACNA1Ac.5488G= (p.Glu1830=)
c.5494G= (p.Glu1832=)
n.712G=
c.649G= (p.Glu217=)
c.5491G= (p.Glu1831=)
n.1477G=
c.495+1588G= (n.495+1588G=)
c.5497G= (p.Glu1833=)
c.115G= (p.Glu39=)
c.5506G= (p.Glu1836=)
c.5350G= (p.Glu1784=)
c.682G=
c.892G= (p.Glu298=)
n.482G=
c.5692G= (p.Glu1898=)
c.1546G= (p.Glu516=)
c.949G= (p.Glu317=)
19g.13230122C>GCA404333452CACNA1Ac.5488G>C (p.Glu1830Gln)
c.5494G>C (p.Glu1832Gln)
n.712G>C
c.649G>C (p.Glu217Gln)
c.5491G>C (p.Glu1831Gln)
n.1477G>C
c.495+1588G>C (n.495+1588G>C)
c.5497G>C (p.Glu1833Gln)
c.115G>C (p.Glu39Gln)
c.5506G>C (p.Glu1836Gln)
c.5350G>C (p.Glu1784Gln)
c.682G>C
c.892G>C (p.Glu298Gln)
n.482G>C
c.5692G>C (p.Glu1898Gln)
c.1546G>C (p.Glu516Gln)
c.949G>C (p.Glu317Gln)
19g.13230122C>TCA9239726CACNA1Ac.5488G>A (p.Glu1830Lys)
c.5494G>A (p.Glu1832Lys)
n.712G>A
c.649G>A (p.Glu217Lys)
c.5491G>A (p.Glu1831Lys)
n.1477G>A
c.495+1588G>A (n.495+1588G>A)
c.5497G>A (p.Glu1833Lys)
c.115G>A (p.Glu39Lys)
c.5506G>A (p.Glu1836Lys)
c.5350G>A (p.Glu1784Lys)
c.682G>A
c.892G>A (p.Glu298Lys)
n.482G>A
c.5692G>A (p.Glu1898Lys)
c.1546G>A (p.Glu516Lys)
c.949G>A (p.Glu317Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13230123A>CCA404333457CACNA1Ac.5487T>G (p.Asp1829Glu)
c.5493T>G (p.Asp1831Glu)
n.711T>G
c.648T>G (p.Asp216Glu)
c.5490T>G (p.Asp1830Glu)
n.1476T>G
c.495+1587T>G (n.495+1587T>G)
c.5496T>G (p.Asp1832Glu)
c.114T>G (p.Asp38Glu)
c.5505T>G (p.Asp1835Glu)
c.5349T>G (p.Asp1783Glu)
c.681T>G
c.891T>G (p.Asp297Glu)
n.481T>G
c.5691T>G (p.Asp1897Glu)
c.1545T>G (p.Asp515Glu)
c.948T>G (p.Asp316Glu)
19g.13230123A>GCA505657039CACNA1Ac.5487T>C (p.Asp1829=)
c.5493T>C (p.Asp1831=)
n.711T>C
c.648T>C (p.Asp216=)
c.5490T>C (p.Asp1830=)
n.1476T>C
c.495+1587T>C (n.495+1587T>C)
c.5496T>C (p.Asp1832=)
c.114T>C (p.Asp38=)
c.5505T>C (p.Asp1835=)
c.5349T>C (p.Asp1783=)
c.681T>C
c.891T>C (p.Asp297=)
n.481T>C
c.5691T>C (p.Asp1897=)
c.1545T>C (p.Asp515=)
c.948T>C (p.Asp316=)
19g.13230123A>TCA404333459CACNA1Ac.5487T>A (p.Asp1829Glu)
c.5493T>A (p.Asp1831Glu)
n.711T>A
c.648T>A (p.Asp216Glu)
c.5490T>A (p.Asp1830Glu)
n.1476T>A
c.495+1587T>A (n.495+1587T>A)
c.5496T>A (p.Asp1832Glu)
c.114T>A (p.Asp38Glu)
c.5505T>A (p.Asp1835Glu)
c.5349T>A (p.Asp1783Glu)
c.681T>A
c.891T>A (p.Asp297Glu)
n.481T>A
c.5691T>A (p.Asp1897Glu)
c.1545T>A (p.Asp515Glu)
c.948T>A (p.Asp316Glu)
19g.13230124T>ACA404333463CACNA1Ac.5486A>T (p.Asp1829Val)
c.5492A>T (p.Asp1831Val)
n.710A>T
c.647A>T (p.Asp216Val)
c.5489A>T (p.Asp1830Val)
n.1475A>T
c.495+1586A>T (n.495+1586A>T)
c.5495A>T (p.Asp1832Val)
c.113A>T (p.Asp38Val)
c.5504A>T (p.Asp1835Val)
c.5348A>T (p.Asp1783Val)
c.680A>T
c.890A>T (p.Asp297Val)
n.480A>T
c.5690A>T (p.Asp1897Val)
c.1544A>T (p.Asp515Val)
c.947A>T (p.Asp316Val)
19g.13230124T>CCA404333465CACNA1Ac.5486A>G (p.Asp1829Gly)
c.5492A>G (p.Asp1831Gly)
n.710A>G
c.647A>G (p.Asp216Gly)
c.5489A>G (p.Asp1830Gly)
n.1475A>G
c.495+1586A>G (n.495+1586A>G)
c.5495A>G (p.Asp1832Gly)
c.113A>G (p.Asp38Gly)
c.5504A>G (p.Asp1835Gly)
c.5348A>G (p.Asp1783Gly)
c.680A>G
c.890A>G (p.Asp297Gly)
n.480A>G
c.5690A>G (p.Asp1897Gly)
c.1544A>G (p.Asp515Gly)
c.947A>G (p.Asp316Gly)
19g.13230124T>GCA404333467CACNA1Ac.5486A>C (p.Asp1829Ala)
c.5492A>C (p.Asp1831Ala)
n.710A>C
c.647A>C (p.Asp216Ala)
c.5489A>C (p.Asp1830Ala)
n.1475A>C
c.495+1586A>C (n.495+1586A>C)
c.5495A>C (p.Asp1832Ala)
c.113A>C (p.Asp38Ala)
c.5504A>C (p.Asp1835Ala)
c.5348A>C (p.Asp1783Ala)
c.680A>C
c.890A>C (p.Asp297Ala)
n.480A>C
c.5690A>C (p.Asp1897Ala)
c.1544A>C (p.Asp515Ala)
c.947A>C (p.Asp316Ala)
19g.13230125C>ACA404333475CACNA1Ac.5485G>T (p.Asp1829Tyr)
c.5491G>T (p.Asp1831Tyr)
n.709G>T
c.646G>T (p.Asp216Tyr)
c.5488G>T (p.Asp1830Tyr)
n.1474G>T
c.495+1585G>T (n.495+1585G>T)
c.5494G>T (p.Asp1832Tyr)
c.112G>T (p.Asp38Tyr)
c.5503G>T (p.Asp1835Tyr)
c.5347G>T (p.Asp1783Tyr)
c.679G>T
c.889G>T (p.Asp297Tyr)
n.479G>T
c.5689G>T (p.Asp1897Tyr)
c.1543G>T (p.Asp515Tyr)
c.946G>T (p.Asp316Tyr)
19g.13230125C>GCA404333473CACNA1Ac.5485G>C (p.Asp1829His)
c.5491G>C (p.Asp1831His)
n.709G>C
c.646G>C (p.Asp216His)
c.5488G>C (p.Asp1830His)
n.1474G>C
c.495+1585G>C (n.495+1585G>C)
c.5494G>C (p.Asp1832His)
c.112G>C (p.Asp38His)
c.5503G>C (p.Asp1835His)
c.5347G>C (p.Asp1783His)
c.679G>C
c.889G>C (p.Asp297His)
n.479G>C
c.5689G>C (p.Asp1897His)
c.1543G>C (p.Asp515His)
c.946G>C (p.Asp316His)
19g.13230125C>TCA404333471CACNA1Ac.5485G>A (p.Asp1829Asn)
c.5491G>A (p.Asp1831Asn)
n.709G>A
c.646G>A (p.Asp216Asn)
c.5488G>A (p.Asp1830Asn)
n.1474G>A
c.495+1585G>A (n.495+1585G>A)
c.5494G>A (p.Asp1832Asn)
c.112G>A (p.Asp38Asn)
c.5503G>A (p.Asp1835Asn)
c.5347G>A (p.Asp1783Asn)
c.679G>A
c.889G>A (p.Asp297Asn)
n.479G>A
c.5689G>A (p.Asp1897Asn)
c.1543G>A (p.Asp515Asn)
c.946G>A (p.Asp316Asn)
19g.13230126C>ACA505657040CACNA1Ac.5484G>T (p.Leu1828=)
c.5490G>T (p.Leu1830=)
n.708G>T
c.645G>T (p.Leu215=)
c.5487G>T (p.Leu1829=)
n.1473G>T
c.495+1584G>T (n.495+1584G>T)
c.5493G>T (p.Leu1831=)
c.111G>T (p.Leu37=)
c.5502G>T (p.Leu1834=)
c.5346G>T (p.Leu1782=)
c.678G>T
c.888G>T (p.Leu296=)
n.478G>T
c.5688G>T (p.Leu1896=)
c.1542G>T (p.Leu514=)
c.945G>T (p.Leu315=)
19g.13230126C=CA2323793028CACNA1Ac.5484G= (p.Leu1828=)
c.5490G= (p.Leu1830=)
n.708G=
c.645G= (p.Leu215=)
c.5487G= (p.Leu1829=)
n.1473G=
c.495+1584G= (n.495+1584G=)
c.5493G= (p.Leu1831=)
c.111G= (p.Leu37=)
c.5502G= (p.Leu1834=)
c.5346G= (p.Leu1782=)
c.678G=
c.888G= (p.Leu296=)
n.478G=
c.5688G= (p.Leu1896=)
c.1542G= (p.Leu514=)
c.945G= (p.Leu315=)
19g.13230126C>GCA505657041CACNA1Ac.5484G>C (p.Leu1828=)
c.5490G>C (p.Leu1830=)
n.708G>C
c.645G>C (p.Leu215=)
c.5487G>C (p.Leu1829=)
n.1473G>C
c.495+1584G>C (n.495+1584G>C)
c.5493G>C (p.Leu1831=)
c.111G>C (p.Leu37=)
c.5502G>C (p.Leu1834=)
c.5346G>C (p.Leu1782=)
c.678G>C
c.888G>C (p.Leu296=)
n.478G>C
c.5688G>C (p.Leu1896=)
c.1542G>C (p.Leu514=)
c.945G>C (p.Leu315=)
19g.13230126C>TCA505657042CACNA1Ac.5484G>A (p.Leu1828=)
c.5490G>A (p.Leu1830=)
n.708G>A
c.645G>A (p.Leu215=)
c.5487G>A (p.Leu1829=)
n.1473G>A
c.495+1584G>A (n.495+1584G>A)
c.5493G>A (p.Leu1831=)
c.111G>A (p.Leu37=)
c.5502G>A (p.Leu1834=)
c.5346G>A (p.Leu1782=)
c.678G>A
c.888G>A (p.Leu296=)
n.478G>A
c.5688G>A (p.Leu1896=)
c.1542G>A (p.Leu514=)
c.945G>A (p.Leu315=)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
19g.13230127A>CCA404333477CACNA1Ac.5483T>G (p.Leu1828Arg)
c.5489T>G (p.Leu1830Arg)
n.707T>G
c.644T>G (p.Leu215Arg)
c.5486T>G (p.Leu1829Arg)
n.1472T>G
c.495+1583T>G (n.495+1583T>G)
c.5492T>G (p.Leu1831Arg)
c.110T>G (p.Leu37Arg)
c.5501T>G (p.Leu1834Arg)
c.5345T>G (p.Leu1782Arg)
c.677T>G
c.887T>G (p.Leu296Arg)
n.477T>G
c.5687T>G (p.Leu1896Arg)
c.1541T>G (p.Leu514Arg)
c.944T>G (p.Leu315Arg)
19g.13230127A>GCA404333479CACNA1Ac.5483T>C (p.Leu1828Pro)
c.5489T>C (p.Leu1830Pro)
n.707T>C
c.644T>C (p.Leu215Pro)
c.5486T>C (p.Leu1829Pro)
n.1472T>C
c.495+1583T>C (n.495+1583T>C)
c.5492T>C (p.Leu1831Pro)
c.110T>C (p.Leu37Pro)
c.5501T>C (p.Leu1834Pro)
c.5345T>C (p.Leu1782Pro)
c.677T>C
c.887T>C (p.Leu296Pro)
n.477T>C
c.5687T>C (p.Leu1896Pro)
c.1541T>C (p.Leu514Pro)
c.944T>C (p.Leu315Pro)
19g.13230127A>TCA404333482CACNA1Ac.5483T>A (p.Leu1828Gln)
c.5489T>A (p.Leu1830Gln)
n.707T>A
c.644T>A (p.Leu215Gln)
c.5486T>A (p.Leu1829Gln)
n.1472T>A
c.495+1583T>A (n.495+1583T>A)
c.5492T>A (p.Leu1831Gln)
c.110T>A (p.Leu37Gln)
c.5501T>A (p.Leu1834Gln)
c.5345T>A (p.Leu1782Gln)
c.677T>A
c.887T>A (p.Leu296Gln)
n.477T>A
c.5687T>A (p.Leu1896Gln)
c.1541T>A (p.Leu514Gln)
c.944T>A (p.Leu315Gln)
19g.13230128G>ACA505657043CACNA1Ac.5482C>T (p.Leu1828=)
c.5488C>T (p.Leu1830=)
n.706C>T
c.643C>T (p.Leu215=)
c.5485C>T (p.Leu1829=)
n.1471C>T
c.495+1582C>T (n.495+1582C>T)
c.5491C>T (p.Leu1831=)
c.109C>T (p.Leu37=)
c.5500C>T (p.Leu1834=)
c.5344C>T (p.Leu1782=)
c.676C>T
c.886C>T (p.Leu296=)
n.476C>T
c.5686C>T (p.Leu1896=)
c.1540C>T (p.Leu514=)
c.943C>T (p.Leu315=)
19g.13230128G>CCA404333485CACNA1Ac.5482C>G (p.Leu1828Val)
c.5488C>G (p.Leu1830Val)
n.706C>G
c.643C>G (p.Leu215Val)
c.5485C>G (p.Leu1829Val)
n.1471C>G
c.495+1582C>G (n.495+1582C>G)
c.5491C>G (p.Leu1831Val)
c.109C>G (p.Leu37Val)
c.5500C>G (p.Leu1834Val)
c.5344C>G (p.Leu1782Val)
c.676C>G
c.886C>G (p.Leu296Val)
n.476C>G
c.5686C>G (p.Leu1896Val)
c.1540C>G (p.Leu514Val)
c.943C>G (p.Leu315Val)
19g.13230128G>TCA404333487CACNA1Ac.5482C>A (p.Leu1828Met)
c.5488C>A (p.Leu1830Met)
n.706C>A
c.643C>A (p.Leu215Met)
c.5485C>A (p.Leu1829Met)
n.1471C>A
c.495+1582C>A (n.495+1582C>A)
c.5491C>A (p.Leu1831Met)
c.109C>A (p.Leu37Met)
c.5500C>A (p.Leu1834Met)
c.5344C>A (p.Leu1782Met)
c.676C>A
c.886C>A (p.Leu296Met)
n.476C>A
c.5686C>A (p.Leu1896Met)
c.1540C>A (p.Leu514Met)
c.943C>A (p.Leu315Met)
19g.13230129G>ACA9239727CACNA1Ac.5481C>T (p.His1827=)
c.5487C>T (p.His1829=)
n.705C>T
c.642C>T (p.His214=)
c.5484C>T (p.His1828=)
n.1470C>T
c.495+1581C>T (n.495+1581C>T)
c.5490C>T (p.His1830=)
c.108C>T (p.His36=)
c.5499C>T (p.His1833=)
c.5343C>T (p.His1781=)
c.675C>T
c.885C>T (p.His295=)
n.475C>T
c.5685C>T (p.His1895=)
c.1539C>T (p.His513=)
c.942C>T (p.His314=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13230129G>CCA404333491CACNA1Ac.5481C>G (p.His1827Gln)
c.5487C>G (p.His1829Gln)
n.705C>G
c.642C>G (p.His214Gln)
c.5484C>G (p.His1828Gln)
n.1470C>G
c.495+1581C>G (n.495+1581C>G)
c.5490C>G (p.His1830Gln)
c.108C>G (p.His36Gln)
c.5499C>G (p.His1833Gln)
c.5343C>G (p.His1781Gln)
c.675C>G
c.885C>G (p.His295Gln)
n.475C>G
c.5685C>G (p.His1895Gln)
c.1539C>G (p.His513Gln)
c.942C>G (p.His314Gln)
19g.13230129G=CA2323793029CACNA1Ac.5481C= (p.His1827=)
c.5487C= (p.His1829=)
n.705C=
c.642C= (p.His214=)
c.5484C= (p.His1828=)
n.1470C=
c.495+1581C= (n.495+1581C=)
c.5490C= (p.His1830=)
c.108C= (p.His36=)
c.5499C= (p.His1833=)
c.5343C= (p.His1781=)
c.675C=
c.885C= (p.His295=)
n.475C=
c.5685C= (p.His1895=)
c.1539C= (p.His513=)
c.942C= (p.His314=)
19g.13230129G>TCA404333493CACNA1Ac.5481C>A (p.His1827Gln)
c.5487C>A (p.His1829Gln)
n.705C>A
c.642C>A (p.His214Gln)
c.5484C>A (p.His1828Gln)
n.1470C>A
c.495+1581C>A (n.495+1581C>A)
c.5490C>A (p.His1830Gln)
c.108C>A (p.His36Gln)
c.5499C>A (p.His1833Gln)
c.5343C>A (p.His1781Gln)
c.675C>A
c.885C>A (p.His295Gln)
n.475C>A
c.5685C>A (p.His1895Gln)
c.1539C>A (p.His513Gln)
c.942C>A (p.His314Gln)
19g.13230130T>ACA404333495CACNA1Ac.5480A>T (p.His1827Leu)
c.5486A>T (p.His1829Leu)
n.704A>T
c.641A>T (p.His214Leu)
c.5483A>T (p.His1828Leu)
n.1469A>T
c.495+1580A>T (n.495+1580A>T)
c.5489A>T (p.His1830Leu)
c.107A>T (p.His36Leu)
c.5498A>T (p.His1833Leu)
c.5342A>T (p.His1781Leu)
c.674A>T
c.884A>T (p.His295Leu)
n.474A>T
c.5684A>T (p.His1895Leu)
c.1538A>T (p.His513Leu)
c.941A>T (p.His314Leu)
19g.13230130T>CCA404333496CACNA1Ac.5480A>G (p.His1827Arg)
c.5486A>G (p.His1829Arg)
n.704A>G
c.641A>G (p.His214Arg)
c.5483A>G (p.His1828Arg)
n.1469A>G
c.495+1580A>G (n.495+1580A>G)
c.5489A>G (p.His1830Arg)
c.107A>G (p.His36Arg)
c.5498A>G (p.His1833Arg)
c.5342A>G (p.His1781Arg)
c.674A>G
c.884A>G (p.His295Arg)
n.474A>G
c.5684A>G (p.His1895Arg)
c.1538A>G (p.His513Arg)
c.941A>G (p.His314Arg)
19g.13230130T>GCA404333499CACNA1Ac.5480A>C (p.His1827Pro)
c.5486A>C (p.His1829Pro)
n.704A>C
c.641A>C (p.His214Pro)
c.5483A>C (p.His1828Pro)
n.1469A>C
c.495+1580A>C (n.495+1580A>C)
c.5489A>C (p.His1830Pro)
c.107A>C (p.His36Pro)
c.5498A>C (p.His1833Pro)
c.5342A>C (p.His1781Pro)
c.674A>C
c.884A>C (p.His295Pro)
n.474A>C
c.5684A>C (p.His1895Pro)
c.1538A>C (p.His513Pro)
c.941A>C (p.His314Pro)
19g.13230131G>ACA404333502CACNA1Ac.5479C>T (p.His1827Tyr)
c.5485C>T (p.His1829Tyr)
n.703C>T
c.640C>T (p.His214Tyr)
c.5482C>T (p.His1828Tyr)
n.1468C>T
c.495+1579C>T (n.495+1579C>T)
c.5488C>T (p.His1830Tyr)
c.106C>T (p.His36Tyr)
c.5497C>T (p.His1833Tyr)
c.5341C>T (p.His1781Tyr)
c.673C>T
c.883C>T (p.His295Tyr)
n.473C>T
c.5683C>T (p.His1895Tyr)
c.1537C>T (p.His513Tyr)
c.940C>T (p.His314Tyr)
 dbSNP
19g.13230131G>CCA16620776CACNA1Ac.5479C>G (p.His1827Asp)
c.5485C>G (p.His1829Asp)
n.703C>G
c.640C>G (p.His214Asp)
c.5482C>G (p.His1828Asp)
n.1468C>G
c.495+1579C>G (n.495+1579C>G)
c.5488C>G (p.His1830Asp)
c.106C>G (p.His36Asp)
c.5497C>G (p.His1833Asp)
c.5341C>G (p.His1781Asp)
c.673C>G
c.883C>G (p.His295Asp)
n.473C>G
c.5683C>G (p.His1895Asp)
c.1537C>G (p.His513Asp)
c.940C>G (p.His314Asp)
 ClinVar dbSNP gnomAD v4
19g.13230131G=CA2323793030CACNA1Ac.5479C= (p.His1827=)
c.5485C= (p.His1829=)
n.703C=
c.640C= (p.His214=)
c.5482C= (p.His1828=)
n.1468C=
c.495+1579C= (n.495+1579C=)
c.5488C= (p.His1830=)
c.106C= (p.His36=)
c.5497C= (p.His1833=)
c.5341C= (p.His1781=)
c.673C=
c.883C= (p.His295=)
n.473C=
c.5683C= (p.His1895=)
c.1537C= (p.His513=)
c.940C= (p.His314=)
19g.13230131G>TCA404333505CACNA1Ac.5479C>A (p.His1827Asn)
c.5485C>A (p.His1829Asn)
n.703C>A
c.640C>A (p.His214Asn)
c.5482C>A (p.His1828Asn)
n.1468C>A
c.495+1579C>A (n.495+1579C>A)
c.5488C>A (p.His1830Asn)
c.106C>A (p.His36Asn)
c.5497C>A (p.His1833Asn)
c.5341C>A (p.His1781Asn)
c.673C>A
c.883C>A (p.His295Asn)
n.473C>A
c.5683C>A (p.His1895Asn)
c.1537C>A (p.His513Asn)
c.940C>A (p.His314Asn)
19g.13230132G>ACA505657044CACNA1Ac.5478C>T (p.His1826=)
c.5484C>T (p.His1828=)
n.702C>T
c.639C>T (p.His213=)
c.5481C>T (p.His1827=)
n.1467C>T
c.495+1578C>T (n.495+1578C>T)
c.5487C>T (p.His1829=)
c.105C>T (p.His35=)
c.5496C>T (p.His1832=)
c.5340C>T (p.His1780=)
c.672C>T
n.871C>T
c.882C>T (p.His294=)
n.472C>T
c.5682C>T (p.His1894=)
c.1536C>T (p.His512=)
c.939C>T (p.His313=)
 dbSNP gnomAD v4
19g.13230132G>CCA404333508CACNA1Ac.5478C>G (p.His1826Gln)
c.5484C>G (p.His1828Gln)
n.702C>G
c.639C>G (p.His213Gln)
c.5481C>G (p.His1827Gln)
n.1467C>G
c.495+1578C>G (n.495+1578C>G)
c.5487C>G (p.His1829Gln)
c.105C>G (p.His35Gln)
c.5496C>G (p.His1832Gln)
c.5340C>G (p.His1780Gln)
c.672C>G
n.871C>G
c.882C>G (p.His294Gln)
n.472C>G
c.5682C>G (p.His1894Gln)
c.1536C>G (p.His512Gln)
c.939C>G (p.His313Gln)
19g.13230132G=CA2323793031CACNA1Ac.5478C= (p.His1826=)
c.5484C= (p.His1828=)
n.702C=
c.639C= (p.His213=)
c.5481C= (p.His1827=)
n.1467C=
c.495+1578C= (n.495+1578C=)
c.5487C= (p.His1829=)
c.105C= (p.His35=)
c.5496C= (p.His1832=)
c.5340C= (p.His1780=)
c.672C=
n.871C=
c.882C= (p.His294=)
n.472C=
c.5682C= (p.His1894=)
c.1536C= (p.His512=)
c.939C= (p.His313=)
19g.13230132G>TCA404333510CACNA1Ac.5478C>A (p.His1826Gln)
c.5484C>A (p.His1828Gln)
n.702C>A
c.639C>A (p.His213Gln)
c.5481C>A (p.His1827Gln)
n.1467C>A
c.495+1578C>A (n.495+1578C>A)
c.5487C>A (p.His1829Gln)
c.105C>A (p.His35Gln)
c.5496C>A (p.His1832Gln)
c.5340C>A (p.His1780Gln)
c.672C>A
n.871C>A
c.882C>A (p.His294Gln)
n.472C>A
c.5682C>A (p.His1894Gln)
c.1536C>A (p.His512Gln)
c.939C>A (p.His313Gln)
19g.13230133T>ACA404333513CACNA1Ac.5477A>T (p.His1826Leu)
c.5483A>T (p.His1828Leu)
c.896A>T
n.701A>T
c.638A>T (p.His213Leu)
c.5480A>T (p.His1827Leu)
n.1466A>T
c.495+1577A>T (n.495+1577A>T)
c.5486A>T (p.His1829Leu)
c.104A>T (p.His35Leu)
c.5495A>T (p.His1832Leu)
c.5339A>T (p.His1780Leu)
c.671A>T
n.870A>T
c.881A>T (p.His294Leu)
n.471A>T
c.5681A>T (p.His1894Leu)
c.1535A>T (p.His512Leu)
c.938A>T (p.His313Leu)
19g.13230133T>CCA404333515CACNA1Ac.5477A>G (p.His1826Arg)
c.5483A>G (p.His1828Arg)
c.896A>G
n.701A>G
c.638A>G (p.His213Arg)
c.5480A>G (p.His1827Arg)
n.1466A>G
c.495+1577A>G (n.495+1577A>G)
c.5486A>G (p.His1829Arg)
c.104A>G (p.His35Arg)
c.5495A>G (p.His1832Arg)
c.5339A>G (p.His1780Arg)
c.671A>G
n.870A>G
c.881A>G (p.His294Arg)
n.471A>G
c.5681A>G (p.His1894Arg)
c.1535A>G (p.His512Arg)
c.938A>G (p.His313Arg)
 ClinVar dbSNP
19g.13230133T>GCA404333517CACNA1Ac.5477A>C (p.His1826Pro)
c.5483A>C (p.His1828Pro)
c.896A>C
n.701A>C
c.638A>C (p.His213Pro)
c.5480A>C (p.His1827Pro)
n.1466A>C
c.495+1577A>C (n.495+1577A>C)
c.5486A>C (p.His1829Pro)
c.104A>C (p.His35Pro)
c.5495A>C (p.His1832Pro)
c.5339A>C (p.His1780Pro)
c.671A>C
n.870A>C
c.881A>C (p.His294Pro)
n.471A>C
c.5681A>C (p.His1894Pro)
c.1535A>C (p.His512Pro)
c.938A>C (p.His313Pro)
19g.13230133T=CA2323793033CACNA1Ac.5477A= (p.His1826=)
c.5483A= (p.His1828=)
c.896A=
n.701A=
c.638A= (p.His213=)
c.5480A= (p.His1827=)
n.1466A=
c.495+1577A= (n.495+1577A=)
c.5486A= (p.His1829=)
c.104A= (p.His35=)
c.5495A= (p.His1832=)
c.5339A= (p.His1780=)
c.671A=
n.870A=
c.881A= (p.His294=)
n.471A=
c.5681A= (p.His1894=)
c.1535A= (p.His512=)
c.938A= (p.His313=)
19g.13230133dupCA2573156110CACNA1Ac.5477dup (p.His1826GlnfsTer5)
c.5483dup (p.His1828GlnfsTer5)
n.701dup
c.638dup (p.His213GlnfsTer5)
c.5480dup (p.His1827GlnfsTer5)
n.1466dup
c.495+1577dup (n.495+1577dup)
c.5486dup (p.His1829GlnfsTer5)
c.104dup (p.His35GlnfsTer5)
c.5495dup (p.His1832GlnfsTer5)
c.5339dup (p.His1780GlnfsTer5)
c.671dup
n.870dup
c.881dup (p.His294GlnfsTer5)
n.471dup
c.5681dup (p.His1894GlnfsTer5)
c.1535dup (p.His512GlnfsTer5)
c.938dup (p.His313GlnfsTer5)
 ClinVar dbSNP
19g.13230133_13230134delinsTGCA2323793032CACNA1Ac.5476_5477delinsCA (p.His1826=)
c.5482_5483delinsCA (p.His1828=)
c.895_896delinsCA
n.700_701delinsCA
c.637_638delinsCA (p.His213=)
c.5479_5480delinsCA (p.His1827=)
n.1465_1466delinsCA
c.495+1576_495+1577delinsCA (n.495+1576_495+1577delinsCA)
c.5485_5486delinsCA (p.His1829=)
c.103_104delinsCA (p.His35=)
c.5494_5495delinsCA (p.His1832=)
c.5338_5339delinsCA (p.His1780=)
c.670_671delinsCA
n.869_870delinsCA
c.880_881delinsCA (p.His294=)
n.470_471delinsCA
c.5680_5681delinsCA (p.His1894=)
c.1534_1535delinsCA (p.His512=)
c.937_938delinsCA (p.His313=)
19g.13230134G>ACA404333520CACNA1Ac.5476C>T (p.His1826Tyr)
c.5482C>T (p.His1828Tyr)
c.895C>T
n.700C>T
c.637C>T (p.His213Tyr)
c.5479C>T (p.His1827Tyr)
n.1465C>T
c.495+1576C>T (n.495+1576C>T)
c.5485C>T (p.His1829Tyr)
c.103C>T (p.His35Tyr)
c.5494C>T (p.His1832Tyr)
c.5338C>T (p.His1780Tyr)
c.670C>T
n.869C>T
c.880C>T (p.His294Tyr)
n.470C>T
c.5680C>T (p.His1894Tyr)
c.1534C>T (p.His512Tyr)
c.937C>T (p.His313Tyr)
19g.13230134G>CCA404333522CACNA1Ac.5476C>G (p.His1826Asp)
c.5482C>G (p.His1828Asp)
c.895C>G
n.700C>G
c.637C>G (p.His213Asp)
c.5479C>G (p.His1827Asp)
n.1465C>G
c.495+1576C>G (n.495+1576C>G)
c.5485C>G (p.His1829Asp)
c.103C>G (p.His35Asp)
c.5494C>G (p.His1832Asp)
c.5338C>G (p.His1780Asp)
c.670C>G
n.869C>G
c.880C>G (p.His294Asp)
n.470C>G
c.5680C>G (p.His1894Asp)
c.1534C>G (p.His512Asp)
c.937C>G (p.His313Asp)
19g.13230134G>TCA404333525CACNA1Ac.5476C>A (p.His1826Asn)
c.5482C>A (p.His1828Asn)
c.895C>A
n.700C>A
c.637C>A (p.His213Asn)
c.5479C>A (p.His1827Asn)
n.1465C>A
c.495+1576C>A (n.495+1576C>A)
c.5485C>A (p.His1829Asn)
c.103C>A (p.His35Asn)
c.5494C>A (p.His1832Asn)
c.5338C>A (p.His1780Asn)
c.670C>A
n.869C>A
c.880C>A (p.His294Asn)
n.470C>A
c.5680C>A (p.His1894Asn)
c.1534C>A (p.His512Asn)
c.937C>A (p.His313Asn)
19g.13230138delCA505657045CACNA1Ac.5476del (p.His1826ThrfsTer30)
c.5482del (p.His1828ThrfsTer?)
c.895del
n.700del
c.637del (p.His213ThrfsTer30)
c.5479del (p.His1827ThrfsTer30)
n.1465del
c.5479del (p.His1827ThrfsTer?)
c.495+1576del (n.495+1576del)
c.5485del (p.His1829ThrfsTer30)
c.103del (p.His35ThrfsTer29)
c.5494del (p.His1832ThrfsTer30)
c.5338del (p.His1780ThrfsTer?)
c.670del
n.869del
c.880del (p.His294ThrfsTer?)
n.470del
c.5680del (p.His1894ThrfsTer30)
c.1534del (p.His512ThrfsTer30)
c.937del (p.His313ThrfsTer?)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
19g.13230135G>ACA505657046CACNA1Ac.5475C>T (p.Pro1825=)
c.5481C>T (p.Pro1827=)
c.894C>T
n.699C>T
c.636C>T (p.Pro212=)
c.5478C>T (p.Pro1826=)
n.1464C>T
c.495+1575C>T (n.495+1575C>T)
c.5484C>T (p.Pro1828=)
c.102C>T (p.Pro34=)
c.5493C>T (p.Pro1831=)
c.5337C>T (p.Pro1779=)
c.669C>T
n.868C>T
c.879C>T (p.Pro293=)
n.469C>T
c.5679C>T (p.Pro1893=)
c.1533C>T (p.Pro511=)
c.936C>T (p.Pro312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13230135G>CCA505657047CACNA1Ac.5475C>G (p.Pro1825=)
c.5481C>G (p.Pro1827=)
c.894C>G
n.699C>G
c.636C>G (p.Pro212=)
c.5478C>G (p.Pro1826=)
n.1464C>G
c.495+1575C>G (n.495+1575C>G)
c.5484C>G (p.Pro1828=)
c.102C>G (p.Pro34=)
c.5493C>G (p.Pro1831=)
c.5337C>G (p.Pro1779=)
c.669C>G
n.868C>G
c.879C>G (p.Pro293=)
n.469C>G
c.5679C>G (p.Pro1893=)
c.1533C>G (p.Pro511=)
c.936C>G (p.Pro312=)
19g.13230135G=CA2323793034CACNA1Ac.5475C= (p.Pro1825=)
c.5481C= (p.Pro1827=)
c.894C=
n.699C=
c.636C= (p.Pro212=)
c.5478C= (p.Pro1826=)
n.1464C=
c.495+1575C= (n.495+1575C=)
c.5484C= (p.Pro1828=)
c.102C= (p.Pro34=)
c.5493C= (p.Pro1831=)
c.5337C= (p.Pro1779=)
c.669C=
n.868C=
c.879C= (p.Pro293=)
n.469C=
c.5679C= (p.Pro1893=)
c.1533C= (p.Pro511=)
c.936C= (p.Pro312=)
19g.13230135G>TCA505657048CACNA1Ac.5475C>A (p.Pro1825=)
c.5481C>A (p.Pro1827=)
c.894C>A
n.699C>A
c.636C>A (p.Pro212=)
c.5478C>A (p.Pro1826=)
n.1464C>A
c.495+1575C>A (n.495+1575C>A)
c.5484C>A (p.Pro1828=)
c.102C>A (p.Pro34=)
c.5493C>A (p.Pro1831=)
c.5337C>A (p.Pro1779=)
c.669C>A
n.868C>A
c.879C>A (p.Pro293=)
n.469C>A
c.5679C>A (p.Pro1893=)
c.1533C>A (p.Pro511=)
c.936C>A (p.Pro312=)
19g.13230136G>ACA404333527CACNA1Ac.5474C>T (p.Pro1825Leu)
c.5480C>T (p.Pro1827Leu)
c.893C>T
n.698C>T
c.635C>T (p.Pro212Leu)
c.5477C>T (p.Pro1826Leu)
n.1463C>T
c.495+1574C>T (n.495+1574C>T)
c.5483C>T (p.Pro1828Leu)
c.101C>T (p.Pro34Leu)
c.5492C>T (p.Pro1831Leu)
c.5336C>T (p.Pro1779Leu)
c.668C>T
n.867C>T
c.878C>T (p.Pro293Leu)
n.468C>T
c.5678C>T (p.Pro1893Leu)
c.1532C>T (p.Pro511Leu)
c.935C>T (p.Pro312Leu)
19g.13230136G>CCA404333529CACNA1Ac.5474C>G (p.Pro1825Arg)
c.5480C>G (p.Pro1827Arg)
c.893C>G
n.698C>G
c.635C>G (p.Pro212Arg)
c.5477C>G (p.Pro1826Arg)
n.1463C>G
c.495+1574C>G (n.495+1574C>G)
c.5483C>G (p.Pro1828Arg)
c.101C>G (p.Pro34Arg)
c.5492C>G (p.Pro1831Arg)
c.5336C>G (p.Pro1779Arg)
c.668C>G
n.867C>G
c.878C>G (p.Pro293Arg)
n.468C>G
c.5678C>G (p.Pro1893Arg)
c.1532C>G (p.Pro511Arg)
c.935C>G (p.Pro312Arg)
19g.13230136G>TCA404333532CACNA1Ac.5474C>A (p.Pro1825His)
c.5480C>A (p.Pro1827His)
c.893C>A
n.698C>A
c.635C>A (p.Pro212His)
c.5477C>A (p.Pro1826His)
n.1463C>A
c.495+1574C>A (n.495+1574C>A)
c.5483C>A (p.Pro1828His)
c.101C>A (p.Pro34His)
c.5492C>A (p.Pro1831His)
c.5336C>A (p.Pro1779His)
c.668C>A
n.867C>A
c.878C>A (p.Pro293His)
n.468C>A
c.5678C>A (p.Pro1893His)
c.1532C>A (p.Pro511His)
c.935C>A (p.Pro312His)
19g.13230137G>ACA404333535CACNA1Ac.5473C>T (p.Pro1825Ser)
c.5479C>T (p.Pro1827Ser)
c.892C>T
n.697C>T
c.634C>T (p.Pro212Ser)
c.5476C>T (p.Pro1826Ser)
n.1462C>T
c.495+1573C>T (n.495+1573C>T)
c.5482C>T (p.Pro1828Ser)
c.100C>T (p.Pro34Ser)
c.5491C>T (p.Pro1831Ser)
c.5335C>T (p.Pro1779Ser)
c.667C>T
n.866C>T
c.877C>T (p.Pro293Ser)
n.467C>T
c.5677C>T (p.Pro1893Ser)
c.1531C>T (p.Pro511Ser)
c.934C>T (p.Pro312Ser)
 ClinVar
19g.13230137G>CCA404333537CACNA1Ac.5473C>G (p.Pro1825Ala)
c.5479C>G (p.Pro1827Ala)
c.892C>G
n.697C>G
c.634C>G (p.Pro212Ala)
c.5476C>G (p.Pro1826Ala)
n.1462C>G
c.495+1573C>G (n.495+1573C>G)
c.5482C>G (p.Pro1828Ala)
c.100C>G (p.Pro34Ala)
c.5491C>G (p.Pro1831Ala)
c.5335C>G (p.Pro1779Ala)
c.667C>G
n.866C>G
c.877C>G (p.Pro293Ala)
n.467C>G
c.5677C>G (p.Pro1893Ala)
c.1531C>G (p.Pro511Ala)
c.934C>G (p.Pro312Ala)
19g.13230137G>TCA404333540CACNA1Ac.5473C>A (p.Pro1825Thr)
c.5479C>A (p.Pro1827Thr)
c.892C>A
n.697C>A
c.634C>A (p.Pro212Thr)
c.5476C>A (p.Pro1826Thr)
n.1462C>A
c.495+1573C>A (n.495+1573C>A)
c.5482C>A (p.Pro1828Thr)
c.100C>A (p.Pro34Thr)
c.5491C>A (p.Pro1831Thr)
c.5335C>A (p.Pro1779Thr)
c.667C>A
n.866C>A
c.877C>A (p.Pro293Thr)
n.467C>A
c.5677C>A (p.Pro1893Thr)
c.1531C>A (p.Pro511Thr)
c.934C>A (p.Pro312Thr)
19g.13230138G>ACA505657051CACNA1Ac.5472C>T (p.Gly1824=)
c.5478C>T (p.Gly1826=)
c.891C>T
n.696C>T
c.633C>T (p.Gly211=)
c.5475C>T (p.Gly1825=)
n.1461C>T
c.495+1572C>T (n.495+1572C>T)
c.5481C>T (p.Gly1827=)
c.99C>T (p.Gly33=)
c.5490C>T (p.Gly1830=)
c.5334C>T (p.Gly1778=)
c.666C>T
n.865C>T
c.876C>T (p.Gly292=)
n.466C>T
c.5676C>T (p.Gly1892=)
c.1530C>T (p.Gly510=)
c.933C>T (p.Gly311=)
 dbSNP
19g.13230138G>CCA505657049CACNA1Ac.5472C>G (p.Gly1824=)
c.5478C>G (p.Gly1826=)
c.891C>G
n.696C>G
c.633C>G (p.Gly211=)
c.5475C>G (p.Gly1825=)
n.1461C>G
c.495+1572C>G (n.495+1572C>G)
c.5481C>G (p.Gly1827=)
c.99C>G (p.Gly33=)
c.5490C>G (p.Gly1830=)
c.5334C>G (p.Gly1778=)
c.666C>G
n.865C>G
c.876C>G (p.Gly292=)
n.466C>G
c.5676C>G (p.Gly1892=)
c.1530C>G (p.Gly510=)
c.933C>G (p.Gly311=)
19g.13230138G=CA2323793035CACNA1Ac.5472C= (p.Gly1824=)
c.5478C= (p.Gly1826=)
c.891C=
n.696C=
c.633C= (p.Gly211=)
c.5475C= (p.Gly1825=)
n.1461C=
c.495+1572C= (n.495+1572C=)
c.5481C= (p.Gly1827=)
c.99C= (p.Gly33=)
c.5490C= (p.Gly1830=)
c.5334C= (p.Gly1778=)
c.666C=
n.865C=
c.876C= (p.Gly292=)
n.466C=
c.5676C= (p.Gly1892=)
c.1530C= (p.Gly510=)
c.933C= (p.Gly311=)
19g.13230138G>TCA505657050CACNA1Ac.5472C>A (p.Gly1824=)
c.5478C>A (p.Gly1826=)
c.891C>A
n.696C>A
c.633C>A (p.Gly211=)
c.5475C>A (p.Gly1825=)
n.1461C>A
c.495+1572C>A (n.495+1572C>A)
c.5481C>A (p.Gly1827=)
c.99C>A (p.Gly33=)
c.5490C>A (p.Gly1830=)
c.5334C>A (p.Gly1778=)
c.666C>A
n.865C>A
c.876C>A (p.Gly292=)
n.466C>A
c.5676C>A (p.Gly1892=)
c.1530C>A (p.Gly510=)
c.933C>A (p.Gly311=)
 ClinVar dbSNP
19g.13230139C>ACA404333541CACNA1Ac.5471G>T (p.Gly1824Val)
c.5477G>T (p.Gly1826Val)
c.890G>T
n.695G>T
c.632G>T (p.Gly211Val)
c.5474G>T (p.Gly1825Val)
n.1460G>T
c.495+1571G>T (n.495+1571G>T)
c.5480G>T (p.Gly1827Val)
c.98G>T (p.Gly33Val)
c.5489G>T (p.Gly1830Val)
c.5333G>T (p.Gly1778Val)
c.665G>T
n.864G>T
c.875G>T (p.Gly292Val)
n.465G>T
c.5675G>T (p.Gly1892Val)
c.1529G>T (p.Gly510Val)
c.932G>T (p.Gly311Val)
19g.13230139C=CA2323793036CACNA1Ac.5471G= (p.Gly1824=)
c.5477G= (p.Gly1826=)
c.890G=
n.695G=
c.632G= (p.Gly211=)
c.5474G= (p.Gly1825=)
n.1460G=
c.495+1571G= (n.495+1571G=)
c.5480G= (p.Gly1827=)
c.98G= (p.Gly33=)
c.5489G= (p.Gly1830=)
c.5333G= (p.Gly1778=)
c.665G=
n.864G=
c.875G= (p.Gly292=)
n.465G=
c.5675G= (p.Gly1892=)
c.1529G= (p.Gly510=)
c.932G= (p.Gly311=)
19g.13230139C>GCA404333545CACNA1Ac.5471G>C (p.Gly1824Ala)
c.5477G>C (p.Gly1826Ala)
c.890G>C
n.695G>C
c.632G>C (p.Gly211Ala)
c.5474G>C (p.Gly1825Ala)
n.1460G>C
c.495+1571G>C (n.495+1571G>C)
c.5480G>C (p.Gly1827Ala)
c.98G>C (p.Gly33Ala)
c.5489G>C (p.Gly1830Ala)
c.5333G>C (p.Gly1778Ala)
c.665G>C
n.864G>C
c.875G>C (p.Gly292Ala)
n.465G>C
c.5675G>C (p.Gly1892Ala)
c.1529G>C (p.Gly510Ala)
c.932G>C (p.Gly311Ala)
19g.13230139C>TCA16620777CACNA1Ac.5471G>A (p.Gly1824Asp)
c.5477G>A (p.Gly1826Asp)
c.890G>A
n.695G>A
c.632G>A (p.Gly211Asp)
c.5474G>A (p.Gly1825Asp)
n.1460G>A
c.495+1571G>A (n.495+1571G>A)
c.5480G>A (p.Gly1827Asp)
c.98G>A (p.Gly33Asp)
c.5489G>A (p.Gly1830Asp)
c.5333G>A (p.Gly1778Asp)
c.665G>A
n.864G>A
c.875G>A (p.Gly292Asp)
n.465G>A
c.5675G>A (p.Gly1892Asp)
c.1529G>A (p.Gly510Asp)
c.932G>A (p.Gly311Asp)
 ClinVar dbSNP
19g.13230140C>ACA404333550CACNA1Ac.5470G>T (p.Gly1824Cys)
c.5476G>T (p.Gly1826Cys)
c.889G>T
n.694G>T
c.631G>T (p.Gly211Cys)
c.5473G>T (p.Gly1825Cys)
n.1459G>T
c.495+1570G>T (n.495+1570G>T)
c.5479G>T (p.Gly1827Cys)
c.97G>T (p.Gly33Cys)
c.5488G>T (p.Gly1830Cys)
c.5332G>T (p.Gly1778Cys)
c.664G>T
n.863G>T
c.874G>T (p.Gly292Cys)
n.464G>T
c.5674G>T (p.Gly1892Cys)
c.1528G>T (p.Gly510Cys)
c.931G>T (p.Gly311Cys)
19g.13230140C>GCA404333547CACNA1Ac.5470G>C (p.Gly1824Arg)
c.5476G>C (p.Gly1826Arg)
c.889G>C
n.694G>C
c.631G>C (p.Gly211Arg)
c.5473G>C (p.Gly1825Arg)
n.1459G>C
c.495+1570G>C (n.495+1570G>C)
c.5479G>C (p.Gly1827Arg)
c.97G>C (p.Gly33Arg)
c.5488G>C (p.Gly1830Arg)
c.5332G>C (p.Gly1778Arg)
c.664G>C
n.863G>C
c.874G>C (p.Gly292Arg)
n.464G>C
c.5674G>C (p.Gly1892Arg)
c.1528G>C (p.Gly510Arg)
c.931G>C (p.Gly311Arg)
19g.13230140C>TCA404333552CACNA1Ac.5470G>A (p.Gly1824Ser)
c.5476G>A (p.Gly1826Ser)
c.889G>A
n.694G>A
c.631G>A (p.Gly211Ser)
c.5473G>A (p.Gly1825Ser)
n.1459G>A
c.495+1570G>A (n.495+1570G>A)
c.5479G>A (p.Gly1827Ser)
c.97G>A (p.Gly33Ser)
c.5488G>A (p.Gly1830Ser)
c.5332G>A (p.Gly1778Ser)
c.664G>A
n.863G>A
c.874G>A (p.Gly292Ser)
n.464G>A
c.5674G>A (p.Gly1892Ser)
c.1528G>A (p.Gly510Ser)
c.931G>A (p.Gly311Ser)
19g.13230141C>ACA305512655CACNA1Ac.5469G>T (p.Leu1823=)
c.5475G>T (p.Leu1825=)
c.888G>T
n.693G>T
c.630G>T (p.Leu210=)
c.5472G>T (p.Leu1824=)
n.1458G>T
c.495+1569G>T (n.495+1569G>T)
c.5478G>T (p.Leu1826=)
c.96G>T (p.Leu32=)
c.5487G>T (p.Leu1829=)
c.5331G>T (p.Leu1777=)
c.663G>T
n.862G>T
c.873G>T (p.Leu291=)
n.463G>T
c.5673G>T (p.Leu1891=)
c.1527G>T (p.Leu509=)
c.930G>T (p.Leu310=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13230141C=CA2323793037CACNA1Ac.5469G= (p.Leu1823=)
c.5475G= (p.Leu1825=)
c.888G=
n.693G=
c.630G= (p.Leu210=)
c.5472G= (p.Leu1824=)
n.1458G=
c.495+1569G= (n.495+1569G=)
c.5478G= (p.Leu1826=)
c.96G= (p.Leu32=)
c.5487G= (p.Leu1829=)
c.5331G= (p.Leu1777=)
c.663G=
n.862G=
c.873G= (p.Leu291=)
n.463G=
c.5673G= (p.Leu1891=)
c.1527G= (p.Leu509=)
c.930G= (p.Leu310=)
19g.13230141C>GCA505657052CACNA1Ac.5469G>C (p.Leu1823=)
c.5475G>C (p.Leu1825=)
c.888G>C
n.693G>C
c.630G>C (p.Leu210=)
c.5472G>C (p.Leu1824=)
n.1458G>C
c.495+1569G>C (n.495+1569G>C)
c.5478G>C (p.Leu1826=)
c.96G>C (p.Leu32=)
c.5487G>C (p.Leu1829=)
c.5331G>C (p.Leu1777=)
c.663G>C
n.862G>C
c.873G>C (p.Leu291=)
n.463G>C
c.5673G>C (p.Leu1891=)
c.1527G>C (p.Leu509=)
c.930G>C (p.Leu310=)
19g.13230141C>TCA505657053CACNA1Ac.5469G>A (p.Leu1823=)
c.5475G>A (p.Leu1825=)
c.888G>A
n.693G>A
c.630G>A (p.Leu210=)
c.5472G>A (p.Leu1824=)
n.1458G>A
c.495+1569G>A (n.495+1569G>A)
c.5478G>A (p.Leu1826=)
c.96G>A (p.Leu32=)
c.5487G>A (p.Leu1829=)
c.5331G>A (p.Leu1777=)
c.663G>A
n.862G>A
c.873G>A (p.Leu291=)
n.463G>A
c.5673G>A (p.Leu1891=)
c.1527G>A (p.Leu509=)
c.930G>A (p.Leu310=)
 dbSNP gnomAD v3 gnomAD v4
19g.13230142A=CA2323793038CACNA1Ac.5468T= (p.Leu1823=)
c.5474T= (p.Leu1825=)
c.887T=
n.692T=
c.629T= (p.Leu210=)
c.5471T= (p.Leu1824=)
n.1457T=
c.495+1568T= (n.495+1568T=)
c.5477T= (p.Leu1826=)
c.95T= (p.Leu32=)
c.5486T= (p.Leu1829=)
c.5330T= (p.Leu1777=)
c.662T=
n.861T=
c.872T= (p.Leu291=)
n.462T=
c.5672T= (p.Leu1891=)
c.1526T= (p.Leu509=)
c.929T= (p.Leu310=)
19g.13230142A>CCA404333556CACNA1Ac.5468T>G (p.Leu1823Arg)
c.5474T>G (p.Leu1825Arg)
c.887T>G
n.692T>G
c.629T>G (p.Leu210Arg)
c.5471T>G (p.Leu1824Arg)
n.1457T>G
c.495+1568T>G (n.495+1568T>G)
c.5477T>G (p.Leu1826Arg)
c.95T>G (p.Leu32Arg)
c.5486T>G (p.Leu1829Arg)
c.5330T>G (p.Leu1777Arg)
c.662T>G
n.861T>G
c.872T>G (p.Leu291Arg)
n.462T>G
c.5672T>G (p.Leu1891Arg)
c.1526T>G (p.Leu509Arg)
c.929T>G (p.Leu310Arg)
19g.13230142A>GCA16608059CACNA1Ac.5468T>C (p.Leu1823Pro)
c.5474T>C (p.Leu1825Pro)
c.887T>C
n.692T>C
c.629T>C (p.Leu210Pro)
c.5471T>C (p.Leu1824Pro)
n.1457T>C
c.495+1568T>C (n.495+1568T>C)
c.5477T>C (p.Leu1826Pro)
c.95T>C (p.Leu32Pro)
c.5486T>C (p.Leu1829Pro)
c.5330T>C (p.Leu1777Pro)
c.662T>C
n.861T>C
c.872T>C (p.Leu291Pro)
n.462T>C
c.5672T>C (p.Leu1891Pro)
c.1526T>C (p.Leu509Pro)
c.929T>C (p.Leu310Pro)
 ClinVar dbSNP
19g.13230142A>TCA404333558CACNA1Ac.5468T>A (p.Leu1823Gln)
c.5474T>A (p.Leu1825Gln)
c.887T>A
n.692T>A
c.629T>A (p.Leu210Gln)
c.5471T>A (p.Leu1824Gln)
n.1457T>A
c.495+1568T>A (n.495+1568T>A)
c.5477T>A (p.Leu1826Gln)
c.95T>A (p.Leu32Gln)
c.5486T>A (p.Leu1829Gln)
c.5330T>A (p.Leu1777Gln)
c.662T>A
n.861T>A
c.872T>A (p.Leu291Gln)
n.462T>A
c.5672T>A (p.Leu1891Gln)
c.1526T>A (p.Leu509Gln)
c.929T>A (p.Leu310Gln)
19g.13230143G>ACA305512669CACNA1Ac.5467C>T (p.Leu1823=)
c.5473C>T (p.Leu1825=)
c.886C>T
n.691C>T
c.628C>T (p.Leu210=)
c.5470C>T (p.Leu1824=)
n.1456C>T
c.495+1567C>T (n.495+1567C>T)
c.5476C>T (p.Leu1826=)
c.94C>T (p.Leu32=)
c.5485C>T (p.Leu1829=)
c.5329C>T (p.Leu1777=)
c.661C>T
n.860C>T
c.871C>T (p.Leu291=)
n.461C>T
c.5671C>T (p.Leu1891=)
c.1525C>T (p.Leu509=)
c.928C>T (p.Leu310=)
 dbSNP gnomAD v4
19g.13230143G>CCA404333565CACNA1Ac.5467C>G (p.Leu1823Val)
c.5473C>G (p.Leu1825Val)
c.886C>G
n.691C>G
c.628C>G (p.Leu210Val)
c.5470C>G (p.Leu1824Val)
n.1456C>G
c.495+1567C>G (n.495+1567C>G)
c.5476C>G (p.Leu1826Val)
c.94C>G (p.Leu32Val)
c.5485C>G (p.Leu1829Val)
c.5329C>G (p.Leu1777Val)
c.661C>G
n.860C>G
c.871C>G (p.Leu291Val)
n.461C>G
c.5671C>G (p.Leu1891Val)
c.1525C>G (p.Leu509Val)
c.928C>G (p.Leu310Val)
19g.13230143G=CA2323793039CACNA1Ac.5467C= (p.Leu1823=)
c.5473C= (p.Leu1825=)
c.886C=
n.691C=
c.628C= (p.Leu210=)
c.5470C= (p.Leu1824=)
n.1456C=
c.495+1567C= (n.495+1567C=)
c.5476C= (p.Leu1826=)
c.94C= (p.Leu32=)
c.5485C= (p.Leu1829=)
c.5329C= (p.Leu1777=)
c.661C=
n.860C=
c.871C= (p.Leu291=)
n.461C=
c.5671C= (p.Leu1891=)
c.1525C= (p.Leu509=)
c.928C= (p.Leu310=)
19g.13230143G>TCA404333563CACNA1Ac.5467C>A (p.Leu1823Met)
c.5473C>A (p.Leu1825Met)
c.886C>A
n.691C>A
c.628C>A (p.Leu210Met)
c.5470C>A (p.Leu1824Met)
n.1456C>A
c.495+1567C>A (n.495+1567C>A)
c.5476C>A (p.Leu1826Met)
c.94C>A (p.Leu32Met)
c.5485C>A (p.Leu1829Met)
c.5329C>A (p.Leu1777Met)
c.661C>A
n.860C>A
c.871C>A (p.Leu291Met)
n.461C>A
c.5671C>A (p.Leu1891Met)
c.1525C>A (p.Leu509Met)
c.928C>A (p.Leu310Met)
19g.13230144G>ACA9239728CACNA1Ac.5466C>T (p.Ile1822=)
c.5472C>T (p.Ile1824=)
c.885C>T
n.690C>T
c.627C>T (p.Ile209=)
c.5469C>T (p.Ile1823=)
n.1455C>T
c.495+1566C>T (n.495+1566C>T)
c.5475C>T (p.Ile1825=)
c.93C>T (p.Ile31=)
c.5484C>T (p.Ile1828=)
c.5328C>T (p.Ile1776=)
c.660C>T
n.859C>T
c.870C>T (p.Ile290=)
n.460C>T
c.5670C>T (p.Ile1890=)
c.1524C>T (p.Ile508=)
c.927C>T (p.Ile309=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13230144G>CCA404333568CACNA1Ac.5466C>G (p.Ile1822Met)
c.5472C>G (p.Ile1824Met)
c.885C>G
n.690C>G
c.627C>G (p.Ile209Met)
c.5469C>G (p.Ile1823Met)
n.1455C>G
c.495+1566C>G (n.495+1566C>G)
c.5475C>G (p.Ile1825Met)
c.93C>G (p.Ile31Met)
c.5484C>G (p.Ile1828Met)
c.5328C>G (p.Ile1776Met)
c.660C>G
n.859C>G
c.870C>G (p.Ile290Met)
n.460C>G
c.5670C>G (p.Ile1890Met)
c.1524C>G (p.Ile508Met)
c.927C>G (p.Ile309Met)
19g.13230144G=CA2323793040CACNA1Ac.5466C= (p.Ile1822=)
c.5472C= (p.Ile1824=)
c.885C=
n.690C=
c.627C= (p.Ile209=)
c.5469C= (p.Ile1823=)
n.1455C=
c.495+1566C= (n.495+1566C=)
c.5475C= (p.Ile1825=)
c.93C= (p.Ile31=)
c.5484C= (p.Ile1828=)
c.5328C= (p.Ile1776=)
c.660C=
n.859C=
c.870C= (p.Ile290=)
n.460C=
c.5670C= (p.Ile1890=)
c.1524C= (p.Ile508=)
c.927C= (p.Ile309=)
19g.13230144G>TCA505657054CACNA1Ac.5466C>A (p.Ile1822=)
c.5472C>A (p.Ile1824=)
c.885C>A
n.690C>A
c.627C>A (p.Ile209=)
c.5469C>A (p.Ile1823=)
n.1455C>A
c.495+1566C>A (n.495+1566C>A)
c.5475C>A (p.Ile1825=)
c.93C>A (p.Ile31=)
c.5484C>A (p.Ile1828=)
c.5328C>A (p.Ile1776=)
c.660C>A
n.859C>A
c.870C>A (p.Ile290=)
n.460C>A
c.5670C>A (p.Ile1890=)
c.1524C>A (p.Ile508=)
c.927C>A (p.Ile309=)
19g.13230145A>CCA404333571CACNA1Ac.5465T>G (p.Ile1822Ser)
c.5471T>G (p.Ile1824Ser)
c.884T>G
n.689T>G
c.626T>G (p.Ile209Ser)
c.5468T>G (p.Ile1823Ser)
n.1454T>G
c.495+1565T>G (n.495+1565T>G)
c.5474T>G (p.Ile1825Ser)
c.92T>G (p.Ile31Ser)
c.5483T>G (p.Ile1828Ser)
c.5327T>G (p.Ile1776Ser)
c.659T>G
n.858T>G
c.869T>G (p.Ile290Ser)
n.459T>G
c.5669T>G (p.Ile1890Ser)
c.1523T>G (p.Ile508Ser)
c.926T>G (p.Ile309Ser)
19g.13230145A>GCA404333573CACNA1Ac.5465T>C (p.Ile1822Thr)
c.5471T>C (p.Ile1824Thr)
c.884T>C
n.689T>C
c.626T>C (p.Ile209Thr)
c.5468T>C (p.Ile1823Thr)
n.1454T>C
c.495+1565T>C (n.495+1565T>C)
c.5474T>C (p.Ile1825Thr)
c.92T>C (p.Ile31Thr)
c.5483T>C (p.Ile1828Thr)
c.5327T>C (p.Ile1776Thr)
c.659T>C
n.858T>C
c.869T>C (p.Ile290Thr)
n.459T>C
c.5669T>C (p.Ile1890Thr)
c.1523T>C (p.Ile508Thr)
c.926T>C (p.Ile309Thr)
19g.13230145A>TCA404333575CACNA1Ac.5465T>A (p.Ile1822Asn)
c.5471T>A (p.Ile1824Asn)
c.884T>A
n.689T>A
c.626T>A (p.Ile209Asn)
c.5468T>A (p.Ile1823Asn)
n.1454T>A
c.495+1565T>A (n.495+1565T>A)
c.5474T>A (p.Ile1825Asn)
c.92T>A (p.Ile31Asn)
c.5483T>A (p.Ile1828Asn)
c.5327T>A (p.Ile1776Asn)
c.659T>A
n.858T>A
c.869T>A (p.Ile290Asn)
n.459T>A
c.5669T>A (p.Ile1890Asn)
c.1523T>A (p.Ile508Asn)
c.926T>A (p.Ile309Asn)
19g.13230146T>ACA404333579CACNA1Ac.5464A>T (p.Ile1822Phe)
c.5470A>T (p.Ile1824Phe)
c.883A>T
n.688A>T
c.625A>T (p.Ile209Phe)
c.5467A>T (p.Ile1823Phe)
n.1453A>T
c.495+1564A>T (n.495+1564A>T)
c.5473A>T (p.Ile1825Phe)
c.91A>T (p.Ile31Phe)
c.5482A>T (p.Ile1828Phe)
c.5326A>T (p.Ile1776Phe)
c.658A>T
n.857A>T
c.868A>T (p.Ile290Phe)
n.458A>T
c.5668A>T (p.Ile1890Phe)
c.1522A>T (p.Ile508Phe)
c.925A>T (p.Ile309Phe)
 gnomAD v4
19g.13230146T>CCA404333581CACNA1Ac.5464A>G (p.Ile1822Val)
c.5470A>G (p.Ile1824Val)
c.883A>G
n.688A>G
c.625A>G (p.Ile209Val)
c.5467A>G (p.Ile1823Val)
n.1453A>G
c.495+1564A>G (n.495+1564A>G)
c.5473A>G (p.Ile1825Val)
c.91A>G (p.Ile31Val)
c.5482A>G (p.Ile1828Val)
c.5326A>G (p.Ile1776Val)
c.658A>G
n.857A>G
c.868A>G (p.Ile290Val)
n.458A>G
c.5668A>G (p.Ile1890Val)
c.1522A>G (p.Ile508Val)
c.925A>G (p.Ile309Val)
 ClinVar dbSNP
19g.13230146T>GCA404333582CACNA1Ac.5464A>C (p.Ile1822Leu)
c.5470A>C (p.Ile1824Leu)
c.883A>C
n.688A>C
c.625A>C (p.Ile209Leu)
c.5467A>C (p.Ile1823Leu)
n.1453A>C
c.495+1564A>C (n.495+1564A>C)
c.5473A>C (p.Ile1825Leu)
c.91A>C (p.Ile31Leu)
c.5482A>C (p.Ile1828Leu)
c.5326A>C (p.Ile1776Leu)
c.658A>C
n.857A>C
c.868A>C (p.Ile290Leu)
n.458A>C
c.5668A>C (p.Ile1890Leu)
c.1522A>C (p.Ile508Leu)
c.925A>C (p.Ile309Leu)
19g.13230146T=CA2323793041CACNA1Ac.5464A= (p.Ile1822=)
c.5470A= (p.Ile1824=)
c.883A=
n.688A=
c.625A= (p.Ile209=)
c.5467A= (p.Ile1823=)
n.1453A=
c.495+1564A= (n.495+1564A=)
c.5473A= (p.Ile1825=)
c.91A= (p.Ile31=)
c.5482A= (p.Ile1828=)
c.5326A= (p.Ile1776=)
c.658A=
n.857A=
c.868A= (p.Ile290=)
n.458A=
c.5668A= (p.Ile1890=)
c.1522A= (p.Ile508=)
c.925A= (p.Ile309=)
19g.13230147G>ACA505657055CACNA1Ac.5463C>T (p.Ser1821=)
c.5469C>T (p.Ser1823=)
c.882C>T
n.687C>T
c.624C>T (p.Ser208=)
c.5466C>T (p.Ser1822=)
n.1452C>T
c.495+1563C>T (n.495+1563C>T)
c.5472C>T (p.Ser1824=)
c.90C>T (p.Ser30=)
c.5481C>T (p.Ser1827=)
c.5325C>T (p.Ser1775=)
c.657C>T
n.856C>T
c.867C>T (p.Ser289=)
n.457C>T
c.5667C>T (p.Ser1889=)
c.1521C>T (p.Ser507=)
c.924C>T (p.Ser308=)
19g.13230147G>CCA505657056CACNA1Ac.5463C>G (p.Ser1821=)
c.5469C>G (p.Ser1823=)
c.882C>G
n.687C>G
c.624C>G (p.Ser208=)
c.5466C>G (p.Ser1822=)
n.1452C>G
c.495+1563C>G (n.495+1563C>G)
c.5472C>G (p.Ser1824=)
c.90C>G (p.Ser30=)
c.5481C>G (p.Ser1827=)
c.5325C>G (p.Ser1775=)
c.657C>G
n.856C>G
c.867C>G (p.Ser289=)
n.457C>G
c.5667C>G (p.Ser1889=)
c.1521C>G (p.Ser507=)
c.924C>G (p.Ser308=)
19g.13230147G=CA2323793042CACNA1Ac.5463C= (p.Ser1821=)
c.5469C= (p.Ser1823=)
c.882C=
n.687C=
c.624C= (p.Ser208=)
c.5466C= (p.Ser1822=)
n.1452C=
c.495+1563C= (n.495+1563C=)
c.5472C= (p.Ser1824=)
c.90C= (p.Ser30=)
c.5481C= (p.Ser1827=)
c.5325C= (p.Ser1775=)
c.657C=
n.856C=
c.867C= (p.Ser289=)
n.457C=
c.5667C= (p.Ser1889=)
c.1521C= (p.Ser507=)
c.924C= (p.Ser308=)
19g.13230147G>TCA505657057CACNA1Ac.5463C>A (p.Ser1821=)
c.5469C>A (p.Ser1823=)
c.882C>A
n.687C>A
c.624C>A (p.Ser208=)
c.5466C>A (p.Ser1822=)
n.1452C>A
c.495+1563C>A (n.495+1563C>A)
c.5472C>A (p.Ser1824=)
c.90C>A (p.Ser30=)
c.5481C>A (p.Ser1827=)
c.5325C>A (p.Ser1775=)
c.657C>A
n.856C>A
c.867C>A (p.Ser289=)
n.457C>A
c.5667C>A (p.Ser1889=)
c.1521C>A (p.Ser507=)
c.924C>A (p.Ser308=)
 dbSNP gnomAD v2 gnomAD v4
19g.13230148G>ACA404333585CACNA1Ac.5462C>T (p.Ser1821Phe)
c.5468C>T (p.Ser1823Phe)
c.881C>T
n.686C>T
c.623C>T (p.Ser208Phe)
c.5465C>T (p.Ser1822Phe)
n.1451C>T
c.495+1562C>T (n.495+1562C>T)
c.5471C>T (p.Ser1824Phe)
c.89C>T (p.Ser30Phe)
c.5480C>T (p.Ser1827Phe)
c.5324C>T (p.Ser1775Phe)
c.656C>T
n.855C>T
c.866C>T (p.Ser289Phe)
n.456C>T
c.5666C>T (p.Ser1889Phe)
c.1520C>T (p.Ser507Phe)
c.923C>T (p.Ser308Phe)
19g.13230148G>CCA404333588CACNA1Ac.5462C>G (p.Ser1821Cys)
c.5468C>G (p.Ser1823Cys)
c.881C>G
n.686C>G
c.623C>G (p.Ser208Cys)
c.5465C>G (p.Ser1822Cys)
n.1451C>G
c.495+1562C>G (n.495+1562C>G)
c.5471C>G (p.Ser1824Cys)
c.89C>G (p.Ser30Cys)
c.5480C>G (p.Ser1827Cys)
c.5324C>G (p.Ser1775Cys)
c.656C>G
n.855C>G
c.866C>G (p.Ser289Cys)
n.456C>G
c.5666C>G (p.Ser1889Cys)
c.1520C>G (p.Ser507Cys)
c.923C>G (p.Ser308Cys)
19g.13230148G>TCA404333590CACNA1Ac.5462C>A (p.Ser1821Tyr)
c.5468C>A (p.Ser1823Tyr)
c.881C>A
n.686C>A
c.623C>A (p.Ser208Tyr)
c.5465C>A (p.Ser1822Tyr)
n.1451C>A
c.495+1562C>A (n.495+1562C>A)
c.5471C>A (p.Ser1824Tyr)
c.89C>A (p.Ser30Tyr)
c.5480C>A (p.Ser1827Tyr)
c.5324C>A (p.Ser1775Tyr)
c.656C>A
n.855C>A
c.866C>A (p.Ser289Tyr)
n.456C>A
c.5666C>A (p.Ser1889Tyr)
c.1520C>A (p.Ser507Tyr)
c.923C>A (p.Ser308Tyr)
19g.13230149A>CCA404333599CACNA1Ac.5461T>G (p.Ser1821Ala)
c.5467T>G (p.Ser1823Ala)
c.880T>G
n.685T>G
c.622T>G (p.Ser208Ala)
c.5464T>G (p.Ser1822Ala)
n.1450T>G
c.495+1561T>G (n.495+1561T>G)
c.5470T>G (p.Ser1824Ala)
c.88T>G (p.Ser30Ala)
c.5479T>G (p.Ser1827Ala)
c.5323T>G (p.Ser1775Ala)
c.655T>G
n.854T>G
c.865T>G (p.Ser289Ala)
n.455T>G
c.5665T>G (p.Ser1889Ala)
c.1519T>G (p.Ser507Ala)
c.922T>G (p.Ser308Ala)
19g.13230149A>GCA404333597CACNA1Ac.5461T>C (p.Ser1821Pro)
c.5467T>C (p.Ser1823Pro)
c.880T>C
n.685T>C
c.622T>C (p.Ser208Pro)
c.5464T>C (p.Ser1822Pro)
n.1450T>C
c.495+1561T>C (n.495+1561T>C)
c.5470T>C (p.Ser1824Pro)
c.88T>C (p.Ser30Pro)
c.5479T>C (p.Ser1827Pro)
c.5323T>C (p.Ser1775Pro)
c.655T>C
n.854T>C
c.865T>C (p.Ser289Pro)
n.455T>C
c.5665T>C (p.Ser1889Pro)
c.1519T>C (p.Ser507Pro)
c.922T>C (p.Ser308Pro)
19g.13230149A>TCA404333594CACNA1Ac.5461T>A (p.Ser1821Thr)
c.5467T>A (p.Ser1823Thr)
c.880T>A
n.685T>A
c.622T>A (p.Ser208Thr)
c.5464T>A (p.Ser1822Thr)
n.1450T>A
c.495+1561T>A (n.495+1561T>A)
c.5470T>A (p.Ser1824Thr)
c.88T>A (p.Ser30Thr)
c.5479T>A (p.Ser1827Thr)
c.5323T>A (p.Ser1775Thr)
c.655T>A
n.854T>A
c.865T>A (p.Ser289Thr)
n.455T>A
c.5665T>A (p.Ser1889Thr)
c.1519T>A (p.Ser507Thr)
c.922T>A (p.Ser308Thr)
19g.13230150G>ACA305512700CACNA1Ac.5460C>T (p.Ser1820=)
c.5466C>T (p.Ser1822=)
c.879C>T
n.684C>T
c.621C>T (p.Ser207=)
c.5463C>T (p.Ser1821=)
n.1449C>T
c.495+1560C>T (n.495+1560C>T)
c.5469C>T (p.Ser1823=)
c.87C>T (p.Ser29=)
c.5478C>T (p.Ser1826=)
c.5322C>T (p.Ser1774=)
c.654C>T
n.853C>T
c.864C>T (p.Ser288=)
n.454C>T
c.5664C>T (p.Ser1888=)
c.1518C>T (p.Ser506=)
c.921C>T (p.Ser307=)
 ClinVar dbSNP gnomAD v4
19g.13230150G>CCA505657058CACNA1Ac.5460C>G (p.Ser1820=)
c.5466C>G (p.Ser1822=)
c.879C>G
n.684C>G
c.621C>G (p.Ser207=)
c.5463C>G (p.Ser1821=)
n.1449C>G
c.495+1560C>G (n.495+1560C>G)
c.5469C>G (p.Ser1823=)
c.87C>G (p.Ser29=)
c.5478C>G (p.Ser1826=)
c.5322C>G (p.Ser1774=)
c.654C>G
n.853C>G
c.864C>G (p.Ser288=)
n.454C>G
c.5664C>G (p.Ser1888=)
c.1518C>G (p.Ser506=)
c.921C>G (p.Ser307=)
19g.13230150G=CA2323793043CACNA1Ac.5460C= (p.Ser1820=)
c.5466C= (p.Ser1822=)
c.879C=
n.684C=
c.621C= (p.Ser207=)
c.5463C= (p.Ser1821=)
n.1449C=
c.495+1560C= (n.495+1560C=)
c.5469C= (p.Ser1823=)
c.87C= (p.Ser29=)
c.5478C= (p.Ser1826=)
c.5322C= (p.Ser1774=)
c.654C=
n.853C=
c.864C= (p.Ser288=)
n.454C=
c.5664C= (p.Ser1888=)
c.1518C= (p.Ser506=)
c.921C= (p.Ser307=)
19g.13230150G>TCA505657059CACNA1Ac.5460C>A (p.Ser1820=)
c.5466C>A (p.Ser1822=)
c.879C>A
n.684C>A
c.621C>A (p.Ser207=)
c.5463C>A (p.Ser1821=)
n.1449C>A
c.495+1560C>A (n.495+1560C>A)
c.5469C>A (p.Ser1823=)
c.87C>A (p.Ser29=)
c.5478C>A (p.Ser1826=)
c.5322C>A (p.Ser1774=)
c.654C>A
n.853C>A
c.864C>A (p.Ser288=)
n.454C>A
c.5664C>A (p.Ser1888=)
c.1518C>A (p.Ser506=)
c.921C>A (p.Ser307=)
 COSMIC COSMIC COSMIC COSMIC
19g.13230151G>ACA404333602CACNA1Ac.5459C>T (p.Ser1820Phe)
c.5465C>T (p.Ser1822Phe)
c.878C>T
n.683C>T
c.620C>T (p.Ser207Phe)
c.5462C>T (p.Ser1821Phe)
n.1448C>T
c.495+1559C>T (n.495+1559C>T)
c.5468C>T (p.Ser1823Phe)
c.86C>T (p.Ser29Phe)
c.5477C>T (p.Ser1826Phe)
c.5321C>T (p.Ser1774Phe)
c.653C>T
n.852C>T
c.863C>T (p.Ser288Phe)
n.453C>T
c.5663C>T (p.Ser1888Phe)
c.1517C>T (p.Ser506Phe)
c.920C>T (p.Ser307Phe)
19g.13230151G>CCA404333604CACNA1Ac.5459C>G (p.Ser1820Cys)
c.5465C>G (p.Ser1822Cys)
c.878C>G
n.683C>G
c.620C>G (p.Ser207Cys)
c.5462C>G (p.Ser1821Cys)
n.1448C>G
c.495+1559C>G (n.495+1559C>G)
c.5468C>G (p.Ser1823Cys)
c.86C>G (p.Ser29Cys)
c.5477C>G (p.Ser1826Cys)
c.5321C>G (p.Ser1774Cys)
c.653C>G
n.852C>G
c.863C>G (p.Ser288Cys)
n.453C>G
c.5663C>G (p.Ser1888Cys)
c.1517C>G (p.Ser506Cys)
c.920C>G (p.Ser307Cys)
19g.13230151G>TCA404333607CACNA1Ac.5459C>A (p.Ser1820Tyr)
c.5465C>A (p.Ser1822Tyr)
c.878C>A
n.683C>A
c.620C>A (p.Ser207Tyr)
c.5462C>A (p.Ser1821Tyr)
n.1448C>A
c.495+1559C>A (n.495+1559C>A)
c.5468C>A (p.Ser1823Tyr)
c.86C>A (p.Ser29Tyr)
c.5477C>A (p.Ser1826Tyr)
c.5321C>A (p.Ser1774Tyr)
c.653C>A
n.852C>A
c.863C>A (p.Ser288Tyr)
n.453C>A
c.5663C>A (p.Ser1888Tyr)
c.1517C>A (p.Ser506Tyr)
c.920C>A (p.Ser307Tyr)
19g.13230152A>CCA404333610CACNA1Ac.5458T>G (p.Ser1820Ala)
c.5464T>G (p.Ser1822Ala)
c.877T>G
n.682T>G
c.619T>G (p.Ser207Ala)
c.5461T>G (p.Ser1821Ala)
n.1447T>G
c.495+1558T>G (n.495+1558T>G)
c.5467T>G (p.Ser1823Ala)
c.85T>G (p.Ser29Ala)
c.5476T>G (p.Ser1826Ala)
c.5320T>G (p.Ser1774Ala)
c.652T>G
n.851T>G
c.862T>G (p.Ser288Ala)
n.452T>G
c.5662T>G (p.Ser1888Ala)
c.1516T>G (p.Ser506Ala)
c.919T>G (p.Ser307Ala)
 gnomAD v4
19g.13230152A>GCA404333612CACNA1Ac.5458T>C (p.Ser1820Pro)
c.5464T>C (p.Ser1822Pro)
c.877T>C
n.682T>C
c.619T>C (p.Ser207Pro)
c.5461T>C (p.Ser1821Pro)
n.1447T>C
c.495+1558T>C (n.495+1558T>C)
c.5467T>C (p.Ser1823Pro)
c.85T>C (p.Ser29Pro)
c.5476T>C (p.Ser1826Pro)
c.5320T>C (p.Ser1774Pro)
c.652T>C
n.851T>C
c.862T>C (p.Ser288Pro)
n.452T>C
c.5662T>C (p.Ser1888Pro)
c.1516T>C (p.Ser506Pro)
c.919T>C (p.Ser307Pro)
 ClinVar
19g.13230152A>TCA404333614CACNA1Ac.5458T>A (p.Ser1820Thr)
c.5464T>A (p.Ser1822Thr)
c.877T>A
n.682T>A
c.619T>A (p.Ser207Thr)
c.5461T>A (p.Ser1821Thr)
n.1447T>A
c.495+1558T>A (n.495+1558T>A)
c.5467T>A (p.Ser1823Thr)
c.85T>A (p.Ser29Thr)
c.5476T>A (p.Ser1826Thr)
c.5320T>A (p.Ser1774Thr)
c.652T>A
n.851T>A
c.862T>A (p.Ser288Thr)
n.452T>A
c.5662T>A (p.Ser1888Thr)
c.1516T>A (p.Ser506Thr)
c.919T>A (p.Ser307Thr)
19g.13230153G>ACA505657060CACNA1Ac.5457C>T (p.Asp1819=)
c.5463C>T (p.Asp1821=)
c.876C>T
n.681C>T
c.618C>T (p.Asp206=)
c.5460C>T (p.Asp1820=)
n.1446C>T
c.495+1557C>T (n.495+1557C>T)
c.5466C>T (p.Asp1822=)
c.84C>T (p.Asp28=)
c.5475C>T (p.Asp1825=)
c.5319C>T (p.Asp1773=)
c.651C>T
n.850C>T
c.861C>T (p.Asp287=)
n.451C>T
c.5661C>T (p.Asp1887=)
c.1515C>T (p.Asp505=)
c.918C>T (p.Asp306=)
19g.13230153G>CCA404333617CACNA1Ac.5457C>G (p.Asp1819Glu)
c.5463C>G (p.Asp1821Glu)
c.876C>G
n.681C>G
c.618C>G (p.Asp206Glu)
c.5460C>G (p.Asp1820Glu)
n.1446C>G
c.495+1557C>G (n.495+1557C>G)
c.5466C>G (p.Asp1822Glu)
c.84C>G (p.Asp28Glu)
c.5475C>G (p.Asp1825Glu)
c.5319C>G (p.Asp1773Glu)
c.651C>G
n.850C>G
c.861C>G (p.Asp287Glu)
n.451C>G
c.5661C>G (p.Asp1887Glu)
c.1515C>G (p.Asp505Glu)
c.918C>G (p.Asp306Glu)
19g.13230153G>TCA404333619CACNA1Ac.5457C>A (p.Asp1819Glu)
c.5463C>A (p.Asp1821Glu)
c.876C>A
n.681C>A
c.618C>A (p.Asp206Glu)
c.5460C>A (p.Asp1820Glu)
n.1446C>A
c.495+1557C>A (n.495+1557C>A)
c.5466C>A (p.Asp1822Glu)
c.84C>A (p.Asp28Glu)
c.5475C>A (p.Asp1825Glu)
c.5319C>A (p.Asp1773Glu)
c.651C>A
n.850C>A
c.861C>A (p.Asp287Glu)
n.451C>A
c.5661C>A (p.Asp1887Glu)
c.1515C>A (p.Asp505Glu)
c.918C>A (p.Asp306Glu)
19g.13230154T>ACA404333623CACNA1Ac.5456A>T (p.Asp1819Val)
c.5462A>T (p.Asp1821Val)
c.875A>T
n.680A>T
c.617A>T (p.Asp206Val)
c.5459A>T (p.Asp1820Val)
n.1445A>T
c.495+1556A>T (n.495+1556A>T)
c.5465A>T (p.Asp1822Val)
c.83A>T (p.Asp28Val)
c.5474A>T (p.Asp1825Val)
c.5318A>T (p.Asp1773Val)
c.650A>T
n.849A>T
c.860A>T (p.Asp287Val)
n.450A>T
c.5660A>T (p.Asp1887Val)
c.1514A>T (p.Asp505Val)
c.917A>T (p.Asp306Val)
19g.13230154T>CCA404333625CACNA1Ac.5456A>G (p.Asp1819Gly)
c.5462A>G (p.Asp1821Gly)
c.875A>G
n.680A>G
c.617A>G (p.Asp206Gly)
c.5459A>G (p.Asp1820Gly)
n.1445A>G
c.495+1556A>G (n.495+1556A>G)
c.5465A>G (p.Asp1822Gly)
c.83A>G (p.Asp28Gly)
c.5474A>G (p.Asp1825Gly)
c.5318A>G (p.Asp1773Gly)
c.650A>G
n.849A>G
c.860A>G (p.Asp287Gly)
n.450A>G
c.5660A>G (p.Asp1887Gly)
c.1514A>G (p.Asp505Gly)
c.917A>G (p.Asp306Gly)
19g.13230154T>GCA404333628CACNA1Ac.5456A>C (p.Asp1819Ala)
c.5462A>C (p.Asp1821Ala)
c.875A>C
n.680A>C
c.617A>C (p.Asp206Ala)
c.5459A>C (p.Asp1820Ala)
n.1445A>C
c.495+1556A>C (n.495+1556A>C)
c.5465A>C (p.Asp1822Ala)
c.83A>C (p.Asp28Ala)
c.5474A>C (p.Asp1825Ala)
c.5318A>C (p.Asp1773Ala)
c.650A>C
n.849A>C
c.860A>C (p.Asp287Ala)
n.450A>C
c.5660A>C (p.Asp1887Ala)
c.1514A>C (p.Asp505Ala)
c.917A>C (p.Asp306Ala)
19g.13230155C>ACA404333635CACNA1Ac.5455G>T (p.Asp1819Tyr)
c.5461G>T (p.Asp1821Tyr)
c.874G>T
n.679G>T
c.616G>T (p.Asp206Tyr)
c.5458G>T (p.Asp1820Tyr)
n.1444G>T
c.495+1555G>T (n.495+1555G>T)
c.5464G>T (p.Asp1822Tyr)
c.82G>T (p.Asp28Tyr)
c.5473G>T (p.Asp1825Tyr)
c.5317G>T (p.Asp1773Tyr)
c.649G>T
n.848G>T
c.859G>T (p.Asp287Tyr)
n.449G>T
c.5659G>T (p.Asp1887Tyr)
c.1513G>T (p.Asp505Tyr)
c.916G>T (p.Asp306Tyr)
19g.13230155C=CA2323793044CACNA1Ac.5455G= (p.Asp1819=)
c.5461G= (p.Asp1821=)
c.874G=
n.679G=
c.616G= (p.Asp206=)
c.5458G= (p.Asp1820=)
n.1444G=
c.495+1555G= (n.495+1555G=)
c.5464G= (p.Asp1822=)
c.82G= (p.Asp28=)
c.5473G= (p.Asp1825=)
c.5317G= (p.Asp1773=)
c.649G=
n.848G=
c.859G= (p.Asp287=)
n.449G=
c.5659G= (p.Asp1887=)
c.1513G= (p.Asp505=)
c.916G= (p.Asp306=)
19g.13230155C>GCA404333632CACNA1Ac.5455G>C (p.Asp1819His)
c.5461G>C (p.Asp1821His)
c.874G>C
n.679G>C
c.616G>C (p.Asp206His)
c.5458G>C (p.Asp1820His)
n.1444G>C
c.495+1555G>C (n.495+1555G>C)
c.5464G>C (p.Asp1822His)
c.82G>C (p.Asp28His)
c.5473G>C (p.Asp1825His)
c.5317G>C (p.Asp1773His)
c.649G>C
n.848G>C
c.859G>C (p.Asp287His)
n.449G>C
c.5659G>C (p.Asp1887His)
c.1513G>C (p.Asp505His)
c.916G>C (p.Asp306His)
19g.13230155C>TCA305512707CACNA1Ac.5455G>A (p.Asp1819Asn)
c.5461G>A (p.Asp1821Asn)
c.874G>A
n.679G>A
c.616G>A (p.Asp206Asn)
c.5458G>A (p.Asp1820Asn)
n.1444G>A
c.495+1555G>A (n.495+1555G>A)
c.5464G>A (p.Asp1822Asn)
c.82G>A (p.Asp28Asn)
c.5473G>A (p.Asp1825Asn)
c.5317G>A (p.Asp1773Asn)
c.649G>A
n.848G>A
c.859G>A (p.Asp287Asn)
n.449G>A
c.5659G>A (p.Asp1887Asn)
c.1513G>A (p.Asp505Asn)
c.916G>A (p.Asp306Asn)
 ClinVar dbSNP
19g.13230156T>ACA505657061CACNA1Ac.5454A>T (p.Arg1818=)
c.5460A>T (p.Arg1820=)
c.873A>T
n.678A>T
c.615A>T (p.Arg205=)
c.5457A>T (p.Arg1819=)
n.1443A>T
c.495+1554A>T (n.495+1554A>T)
c.5463A>T (p.Arg1821=)
c.81A>T (p.Arg27=)
c.5472A>T (p.Arg1824=)
c.5316A>T (p.Arg1772=)
c.648A>T
n.847A>T
c.858A>T (p.Arg286=)
n.448A>T
c.5658A>T (p.Arg1886=)
c.1512A>T (p.Arg504=)
c.915A>T (p.Arg305=)
19g.13230156T>CCA505657063CACNA1Ac.5454A>G (p.Arg1818=)
c.5460A>G (p.Arg1820=)
c.873A>G
n.678A>G
c.615A>G (p.Arg205=)
c.5457A>G (p.Arg1819=)
n.1443A>G
c.495+1554A>G (n.495+1554A>G)
c.5463A>G (p.Arg1821=)
c.81A>G (p.Arg27=)
c.5472A>G (p.Arg1824=)
c.5316A>G (p.Arg1772=)
c.648A>G
n.847A>G
c.858A>G (p.Arg286=)
n.448A>G
c.5658A>G (p.Arg1886=)
c.1512A>G (p.Arg504=)
c.915A>G (p.Arg305=)
19g.13230156T>GCA505657062CACNA1Ac.5454A>C (p.Arg1818=)
c.5460A>C (p.Arg1820=)
c.873A>C
n.678A>C
c.615A>C (p.Arg205=)
c.5457A>C (p.Arg1819=)
n.1443A>C
c.495+1554A>C (n.495+1554A>C)
c.5463A>C (p.Arg1821=)
c.81A>C (p.Arg27=)
c.5472A>C (p.Arg1824=)
c.5316A>C (p.Arg1772=)
c.648A>C
n.847A>C
c.858A>C (p.Arg286=)
n.448A>C
c.5658A>C (p.Arg1886=)
c.1512A>C (p.Arg504=)
c.915A>C (p.Arg305=)
19g.13230157C>ACA404333637CACNA1Ac.5453G>T (p.Arg1818Leu)
c.5459G>T (p.Arg1820Leu)
c.872G>T
n.677G>T
c.614G>T (p.Arg205Leu)
c.5456G>T (p.Arg1819Leu)
n.1442G>T
c.495+1553G>T (n.495+1553G>T)
c.5462G>T (p.Arg1821Leu)
c.80G>T (p.Arg27Leu)
c.5471G>T (p.Arg1824Leu)
c.5315G>T (p.Arg1772Leu)
c.647G>T
n.846G>T
c.857G>T (p.Arg286Leu)
n.447G>T
c.5657G>T (p.Arg1886Leu)
c.1511G>T (p.Arg504Leu)
c.914G>T (p.Arg305Leu)
19g.13230157C=CA2323793045CACNA1Ac.5453G= (p.Arg1818=)
c.5459G= (p.Arg1820=)
c.872G=
n.677G=
c.614G= (p.Arg205=)
c.5456G= (p.Arg1819=)
n.1442G=
c.495+1553G= (n.495+1553G=)
c.5462G= (p.Arg1821=)
c.80G= (p.Arg27=)
c.5471G= (p.Arg1824=)
c.5315G= (p.Arg1772=)
c.647G=
n.846G=
c.857G= (p.Arg286=)
n.447G=
c.5657G= (p.Arg1886=)
c.1511G= (p.Arg504=)
c.914G= (p.Arg305=)
19g.13230157C>GCA404333639CACNA1Ac.5453G>C (p.Arg1818Pro)
c.5459G>C (p.Arg1820Pro)
c.872G>C
n.677G>C
c.614G>C (p.Arg205Pro)
c.5456G>C (p.Arg1819Pro)
n.1442G>C
c.495+1553G>C (n.495+1553G>C)
c.5462G>C (p.Arg1821Pro)
c.80G>C (p.Arg27Pro)
c.5471G>C (p.Arg1824Pro)
c.5315G>C (p.Arg1772Pro)
c.647G>C
n.846G>C
c.857G>C (p.Arg286Pro)
n.447G>C
c.5657G>C (p.Arg1886Pro)
c.1511G>C (p.Arg504Pro)
c.914G>C (p.Arg305Pro)
 ClinVar dbSNP
19g.13230157C>TCA9239729CACNA1Ac.5453G>A (p.Arg1818Gln)
c.5459G>A (p.Arg1820Gln)
c.872G>A
n.677G>A
c.614G>A (p.Arg205Gln)
c.5456G>A (p.Arg1819Gln)
n.1442G>A
c.495+1553G>A (n.495+1553G>A)
c.5462G>A (p.Arg1821Gln)
c.80G>A (p.Arg27Gln)
c.5471G>A (p.Arg1824Gln)
c.5315G>A (p.Arg1772Gln)
c.647G>A
n.846G>A
c.857G>A (p.Arg286Gln)
n.447G>A
c.5657G>A (p.Arg1886Gln)
c.1511G>A (p.Arg504Gln)
c.914G>A (p.Arg305Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13230158G>ACA119656CACNA1Ac.5452C>T (p.Arg1818Ter)
c.5458C>T (p.Arg1820Ter)
c.871C>T
n.676C>T
c.613C>T (p.Arg205Ter)
c.5455C>T (p.Arg1819Ter)
n.1441C>T
c.495+1552C>T (n.495+1552C>T)
c.5461C>T (p.Arg1821Ter)
c.79C>T (p.Arg27Ter)
c.5470C>T (p.Arg1824Ter)
c.5314C>T (p.Arg1772Ter)
c.646C>T
n.845C>T
c.856C>T (p.Arg286Ter)
n.446C>T
c.5656C>T (p.Arg1886Ter)
c.1510C>T (p.Arg504Ter)
c.913C>T (p.Arg305Ter)
 ClinVar dbSNP
19g.13230158G>CCA9239730CACNA1Ac.5452C>G (p.Arg1818Gly)
c.5458C>G (p.Arg1820Gly)
c.871C>G
n.676C>G
c.613C>G (p.Arg205Gly)
c.5455C>G (p.Arg1819Gly)
n.1441C>G
c.495+1552C>G (n.495+1552C>G)
c.5461C>G (p.Arg1821Gly)
c.79C>G (p.Arg27Gly)
c.5470C>G (p.Arg1824Gly)
c.5314C>G (p.Arg1772Gly)
c.646C>G
n.845C>G
c.856C>G (p.Arg286Gly)
n.446C>G
c.5656C>G (p.Arg1886Gly)
c.1510C>G (p.Arg504Gly)
c.913C>G (p.Arg305Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13230158G=CA2323793046CACNA1Ac.5452C= (p.Arg1818=)
c.5458C= (p.Arg1820=)
c.871C=
n.676C=
c.613C= (p.Arg205=)
c.5455C= (p.Arg1819=)
n.1441C=
c.495+1552C= (n.495+1552C=)
c.5461C= (p.Arg1821=)
c.79C= (p.Arg27=)
c.5470C= (p.Arg1824=)
c.5314C= (p.Arg1772=)
c.646C=
n.845C=
c.856C= (p.Arg286=)
n.446C=
c.5656C= (p.Arg1886=)
c.1510C= (p.Arg504=)
c.913C= (p.Arg305=)
19g.13230158G>TCA305512747CACNA1Ac.5452C>A (p.Arg1818=)
c.5458C>A (p.Arg1820=)
c.871C>A
n.676C>A
c.613C>A (p.Arg205=)
c.5455C>A (p.Arg1819=)
n.1441C>A
c.495+1552C>A (n.495+1552C>A)
c.5461C>A (p.Arg1821=)
c.79C>A (p.Arg27=)
c.5470C>A (p.Arg1824=)
c.5314C>A (p.Arg1772=)
c.646C>A
n.845C>A
c.856C>A (p.Arg286=)
n.446C>A
c.5656C>A (p.Arg1886=)
c.1510C>A (p.Arg504=)
c.913C>A (p.Arg305=)
 dbSNP gnomAD v3
19g.13230159G>ACA9239731CACNA1Ac.5451C>T (p.Thr1817=)
c.5457C>T (p.Thr1819=)
c.870C>T
n.675C>T
c.612C>T (p.Thr204=)
c.5454C>T (p.Thr1818=)
n.1440C>T
c.495+1551C>T (n.495+1551C>T)
c.5460C>T (p.Thr1820=)
c.78C>T (p.Thr26=)
c.5469C>T (p.Thr1823=)
c.5313C>T (p.Thr1771=)
c.645C>T
n.844C>T
c.855C>T (p.Thr285=)
n.445C>T
c.5655C>T (p.Thr1885=)
c.1509C>T (p.Thr503=)
c.912C>T (p.Thr304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13230159G>CCA505657065CACNA1Ac.5451C>G (p.Thr1817=)
c.5457C>G (p.Thr1819=)
c.870C>G
n.675C>G
c.612C>G (p.Thr204=)
c.5454C>G (p.Thr1818=)
n.1440C>G
c.495+1551C>G (n.495+1551C>G)
c.5460C>G (p.Thr1820=)
c.78C>G (p.Thr26=)
c.5469C>G (p.Thr1823=)
c.5313C>G (p.Thr1771=)
c.645C>G
n.844C>G
c.855C>G (p.Thr285=)
n.445C>G
c.5655C>G (p.Thr1885=)
c.1509C>G (p.Thr503=)
c.912C>G (p.Thr304=)
19g.13230159G=CA2323793047CACNA1Ac.5451C= (p.Thr1817=)
c.5457C= (p.Thr1819=)
c.870C=
n.675C=
c.612C= (p.Thr204=)
c.5454C= (p.Thr1818=)
n.1440C=
c.495+1551C= (n.495+1551C=)
c.5460C= (p.Thr1820=)
c.78C= (p.Thr26=)
c.5469C= (p.Thr1823=)
c.5313C= (p.Thr1771=)
c.645C=
n.844C=
c.855C= (p.Thr285=)
n.445C=
c.5655C= (p.Thr1885=)
c.1509C= (p.Thr503=)
c.912C= (p.Thr304=)
19g.13230159G>TCA505657064CACNA1Ac.5451C>A (p.Thr1817=)
c.5457C>A (p.Thr1819=)
c.870C>A
n.675C>A
c.612C>A (p.Thr204=)
c.5454C>A (p.Thr1818=)
n.1440C>A
c.495+1551C>A (n.495+1551C>A)
c.5460C>A (p.Thr1820=)
c.78C>A (p.Thr26=)
c.5469C>A (p.Thr1823=)
c.5313C>A (p.Thr1771=)
c.645C>A
n.844C>A
c.855C>A (p.Thr285=)
n.445C>A
c.5655C>A (p.Thr1885=)
c.1509C>A (p.Thr503=)
c.912C>A (p.Thr304=)
19g.13230160G>ACA404333650CACNA1Ac.5450C>T (p.Thr1817Ile)
c.5456C>T (p.Thr1819Ile)
c.869C>T
n.674C>T
c.611C>T (p.Thr204Ile)
c.5453C>T (p.Thr1818Ile)
n.1439C>T
c.495+1550C>T (n.495+1550C>T)
c.5459C>T (p.Thr1820Ile)
c.77C>T (p.Thr26Ile)
c.5468C>T (p.Thr1823Ile)
c.5312C>T (p.Thr1771Ile)
c.644C>T
n.843C>T
c.854C>T (p.Thr285Ile)
n.444C>T
c.5654C>T (p.Thr1885Ile)
c.1508C>T (p.Thr503Ile)
c.911C>T (p.Thr304Ile)
19g.13230160G>CCA404333653CACNA1Ac.5450C>G (p.Thr1817Ser)
c.5456C>G (p.Thr1819Ser)
c.869C>G
n.674C>G
c.611C>G (p.Thr204Ser)
c.5453C>G (p.Thr1818Ser)
n.1439C>G
c.495+1550C>G (n.495+1550C>G)
c.5459C>G (p.Thr1820Ser)
c.77C>G (p.Thr26Ser)
c.5468C>G (p.Thr1823Ser)
c.5312C>G (p.Thr1771Ser)
c.644C>G
n.843C>G
c.854C>G (p.Thr285Ser)
n.444C>G
c.5654C>G (p.Thr1885Ser)
c.1508C>G (p.Thr503Ser)
c.911C>G (p.Thr304Ser)
19g.13230160G>TCA404333655CACNA1Ac.5450C>A (p.Thr1817Asn)
c.5456C>A (p.Thr1819Asn)
c.869C>A
n.674C>A
c.611C>A (p.Thr204Asn)
c.5453C>A (p.Thr1818Asn)
n.1439C>A
c.495+1550C>A (n.495+1550C>A)
c.5459C>A (p.Thr1820Asn)
c.77C>A (p.Thr26Asn)
c.5468C>A (p.Thr1823Asn)
c.5312C>A (p.Thr1771Asn)
c.644C>A
n.843C>A
c.854C>A (p.Thr285Asn)
n.444C>A
c.5654C>A (p.Thr1885Asn)
c.1508C>A (p.Thr503Asn)
c.911C>A (p.Thr304Asn)
19g.13230161T>ACA404333659CACNA1Ac.5449A>T (p.Thr1817Ser)
c.5455A>T (p.Thr1819Ser)
c.868A>T
n.673A>T
c.610A>T (p.Thr204Ser)
c.5452A>T (p.Thr1818Ser)
n.1438A>T
c.495+1549A>T (n.495+1549A>T)
c.5458A>T (p.Thr1820Ser)
c.76A>T (p.Thr26Ser)
c.5467A>T (p.Thr1823Ser)
c.5311A>T (p.Thr1771Ser)
c.643A>T
n.842A>T
c.853A>T (p.Thr285Ser)
n.443A>T
c.5653A>T (p.Thr1885Ser)
c.1507A>T (p.Thr503Ser)
c.910A>T (p.Thr304Ser)
19g.13230161T>CCA404333662CACNA1Ac.5449A>G (p.Thr1817Ala)
c.5455A>G (p.Thr1819Ala)
c.868A>G
n.673A>G
c.610A>G (p.Thr204Ala)
c.5452A>G (p.Thr1818Ala)
n.1438A>G
c.495+1549A>G (n.495+1549A>G)
c.5458A>G (p.Thr1820Ala)
c.76A>G (p.Thr26Ala)
c.5467A>G (p.Thr1823Ala)
c.5311A>G (p.Thr1771Ala)
c.643A>G
n.842A>G
c.853A>G (p.Thr285Ala)
n.443A>G
c.5653A>G (p.Thr1885Ala)
c.1507A>G (p.Thr503Ala)
c.910A>G (p.Thr304Ala)
19g.13230161T>GCA404333664CACNA1Ac.5449A>C (p.Thr1817Pro)
c.5455A>C (p.Thr1819Pro)
c.868A>C
n.673A>C
c.610A>C (p.Thr204Pro)
c.5452A>C (p.Thr1818Pro)
n.1438A>C
c.495+1549A>C (n.495+1549A>C)
c.5458A>C (p.Thr1820Pro)
c.76A>C (p.Thr26Pro)
c.5467A>C (p.Thr1823Pro)
c.5311A>C (p.Thr1771Pro)
c.643A>C
n.842A>C
c.853A>C (p.Thr285Pro)
n.443A>C
c.5653A>C (p.Thr1885Pro)
c.1507A>C (p.Thr503Pro)
c.910A>C (p.Thr304Pro)
 dbSNP
19g.13230161T=CA2323793048CACNA1Ac.5449A= (p.Thr1817=)
c.5455A= (p.Thr1819=)
c.868A=
n.673A=
c.610A= (p.Thr204=)
c.5452A= (p.Thr1818=)
n.1438A=
c.495+1549A= (n.495+1549A=)
c.5458A= (p.Thr1820=)
c.76A= (p.Thr26=)
c.5467A= (p.Thr1823=)
c.5311A= (p.Thr1771=)
c.643A=
n.842A=
c.853A= (p.Thr285=)
n.443A=
c.5653A= (p.Thr1885=)
c.1507A= (p.Thr503=)
c.910A= (p.Thr304=)
19g.13230162G>ACA505657066CACNA1Ac.5448C>T (p.Leu1816=)
c.5454C>T (p.Leu1818=)
c.867C>T
n.672C>T
c.609C>T (p.Leu203=)
c.5451C>T (p.Leu1817=)
n.1437C>T
c.495+1548C>T (n.495+1548C>T)
c.5457C>T (p.Leu1819=)
c.75C>T (p.Leu25=)
c.5466C>T (p.Leu1822=)
c.5310C>T (p.Leu1770=)
c.642C>T
n.841C>T
c.852C>T (p.Leu284=)
n.442C>T
c.5652C>T (p.Leu1884=)
c.1506C>T (p.Leu502=)
c.909C>T (p.Leu303=)
 gnomAD v4
19g.13230162G>CCA505657068CACNA1Ac.5448C>G (p.Leu1816=)
c.5454C>G (p.Leu1818=)
c.867C>G
n.672C>G
c.609C>G (p.Leu203=)
c.5451C>G (p.Leu1817=)
n.1437C>G
c.495+1548C>G (n.495+1548C>G)
c.5457C>G (p.Leu1819=)
c.75C>G (p.Leu25=)
c.5466C>G (p.Leu1822=)
c.5310C>G (p.Leu1770=)
c.642C>G
n.841C>G
c.852C>G (p.Leu284=)
n.442C>G
c.5652C>G (p.Leu1884=)
c.1506C>G (p.Leu502=)
c.909C>G (p.Leu303=)
19g.13230162G>TCA505657067CACNA1Ac.5448C>A (p.Leu1816=)
c.5454C>A (p.Leu1818=)
c.867C>A
n.672C>A
c.609C>A (p.Leu203=)
c.5451C>A (p.Leu1817=)
n.1437C>A
c.495+1548C>A (n.495+1548C>A)
c.5457C>A (p.Leu1819=)
c.75C>A (p.Leu25=)
c.5466C>A (p.Leu1822=)
c.5310C>A (p.Leu1770=)
c.642C>A
n.841C>A
c.852C>A (p.Leu284=)
n.442C>A
c.5652C>A (p.Leu1884=)
c.1506C>A (p.Leu502=)
c.909C>A (p.Leu303=)
19g.13230163A>CCA404333667CACNA1Ac.5447T>G (p.Leu1816Arg)
c.5453T>G (p.Leu1818Arg)
c.866T>G
n.671T>G
c.608T>G (p.Leu203Arg)
c.5450T>G (p.Leu1817Arg)
n.1436T>G
c.495+1547T>G (n.495+1547T>G)
c.5456T>G (p.Leu1819Arg)
c.74T>G (p.Leu25Arg)
c.5465T>G (p.Leu1822Arg)
c.5309T>G (p.Leu1770Arg)
c.641T>G
n.840T>G
c.851T>G (p.Leu284Arg)
n.441T>G
c.5651T>G (p.Leu1884Arg)
c.1505T>G (p.Leu502Arg)
c.908T>G (p.Leu303Arg)
19g.13230163A>GCA404333672CACNA1Ac.5447T>C (p.Leu1816Pro)
c.5453T>C (p.Leu1818Pro)
c.866T>C
n.671T>C
c.608T>C (p.Leu203Pro)
c.5450T>C (p.Leu1817Pro)
n.1436T>C
c.495+1547T>C (n.495+1547T>C)
c.5456T>C (p.Leu1819Pro)
c.74T>C (p.Leu25Pro)
c.5465T>C (p.Leu1822Pro)
c.5309T>C (p.Leu1770Pro)
c.641T>C
n.840T>C
c.851T>C (p.Leu284Pro)
n.441T>C
c.5651T>C (p.Leu1884Pro)
c.1505T>C (p.Leu502Pro)
c.908T>C (p.Leu303Pro)
19g.13230163A>TCA404333670CACNA1Ac.5447T>A (p.Leu1816His)
c.5453T>A (p.Leu1818His)
c.866T>A
n.671T>A
c.608T>A (p.Leu203His)
c.5450T>A (p.Leu1817His)
n.1436T>A
c.495+1547T>A (n.495+1547T>A)
c.5456T>A (p.Leu1819His)
c.74T>A (p.Leu25His)
c.5465T>A (p.Leu1822His)
c.5309T>A (p.Leu1770His)
c.641T>A
n.840T>A
c.851T>A (p.Leu284His)
n.441T>A
c.5651T>A (p.Leu1884His)
c.1505T>A (p.Leu502His)
c.908T>A (p.Leu303His)
19g.13230164G>ACA404333675CACNA1Ac.5446C>T (p.Leu1816Phe)
c.5452C>T (p.Leu1818Phe)
c.865C>T
n.670C>T
c.607C>T (p.Leu203Phe)
c.5449C>T (p.Leu1817Phe)
n.1435C>T
c.495+1546C>T (n.495+1546C>T)
c.5455C>T (p.Leu1819Phe)
c.73C>T (p.Leu25Phe)
c.5464C>T (p.Leu1822Phe)
c.5308C>T (p.Leu1770Phe)
c.640C>T
n.839C>T
c.850C>T (p.Leu284Phe)
n.440C>T
c.5650C>T (p.Leu1884Phe)
c.1504C>T (p.Leu502Phe)
c.907C>T (p.Leu303Phe)
19g.13230164G>CCA404333677CACNA1Ac.5446C>G (p.Leu1816Val)
c.5452C>G (p.Leu1818Val)
c.865C>G
n.670C>G
c.607C>G (p.Leu203Val)
c.5449C>G (p.Leu1817Val)
n.1435C>G
c.495+1546C>G (n.495+1546C>G)
c.5455C>G (p.Leu1819Val)
c.73C>G (p.Leu25Val)
c.5464C>G (p.Leu1822Val)
c.5308C>G (p.Leu1770Val)
c.640C>G
n.839C>G
c.850C>G (p.Leu284Val)
n.440C>G
c.5650C>G (p.Leu1884Val)
c.1504C>G (p.Leu502Val)
c.907C>G (p.Leu303Val)
 COSMIC COSMIC COSMIC COSMIC
19g.13230164G>TCA404333679CACNA1Ac.5446C>A (p.Leu1816Ile)
c.5452C>A (p.Leu1818Ile)
c.865C>A
n.670C>A
c.607C>A (p.Leu203Ile)
c.5449C>A (p.Leu1817Ile)
n.1435C>A
c.495+1546C>A (n.495+1546C>A)
c.5455C>A (p.Leu1819Ile)
c.73C>A (p.Leu25Ile)
c.5464C>A (p.Leu1822Ile)
c.5308C>A (p.Leu1770Ile)
c.640C>A
n.839C>A
c.850C>A (p.Leu284Ile)
n.440C>A
c.5650C>A (p.Leu1884Ile)
c.1504C>A (p.Leu502Ile)
c.907C>A (p.Leu303Ile)
19g.13230165G>ACA505657069CACNA1Ac.5445C>T (p.Tyr1815=)
c.5451C>T (p.Tyr1817=)
c.864C>T
n.669C>T
c.606C>T (p.Tyr202=)
c.5448C>T (p.Tyr1816=)
n.1434C>T
c.495+1545C>T (n.495+1545C>T)
c.5454C>T (p.Tyr1818=)
c.72C>T (p.Tyr24=)
c.5463C>T (p.Tyr1821=)
c.5307C>T (p.Tyr1769=)
c.639C>T
n.838C>T
c.849C>T (p.Tyr283=)
n.439C>T
c.5649C>T (p.Tyr1883=)
c.1503C>T (p.Tyr501=)
c.906C>T (p.Tyr302=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13230165G>CCA404333682CACNA1Ac.5445C>G (p.Tyr1815Ter)
c.5451C>G (p.Tyr1817Ter)
c.864C>G
n.669C>G
c.606C>G (p.Tyr202Ter)
c.5448C>G (p.Tyr1816Ter)
n.1434C>G
c.495+1545C>G (n.495+1545C>G)
c.5454C>G (p.Tyr1818Ter)
c.72C>G (p.Tyr24Ter)
c.5463C>G (p.Tyr1821Ter)
c.5307C>G (p.Tyr1769Ter)
c.639C>G
n.838C>G
c.849C>G (p.Tyr283Ter)
n.439C>G
c.5649C>G (p.Tyr1883Ter)
c.1503C>G (p.Tyr501Ter)
c.906C>G (p.Tyr302Ter)
19g.13230165G=CA2323793049CACNA1Ac.5445C= (p.Tyr1815=)
c.5451C= (p.Tyr1817=)
c.864C=
n.669C=
c.606C= (p.Tyr202=)
c.5448C= (p.Tyr1816=)
n.1434C=
c.495+1545C= (n.495+1545C=)
c.5454C= (p.Tyr1818=)
c.72C= (p.Tyr24=)
c.5463C= (p.Tyr1821=)
c.5307C= (p.Tyr1769=)
c.639C=
n.838C=
c.849C= (p.Tyr283=)
n.439C=
c.5649C= (p.Tyr1883=)
c.1503C= (p.Tyr501=)
c.906C= (p.Tyr302=)
19g.13230165G>TCA404333684CACNA1Ac.5445C>A (p.Tyr1815Ter)
c.5451C>A (p.Tyr1817Ter)
c.864C>A
n.669C>A
c.606C>A (p.Tyr202Ter)
c.5448C>A (p.Tyr1816Ter)
n.1434C>A
c.495+1545C>A (n.495+1545C>A)
c.5454C>A (p.Tyr1818Ter)
c.72C>A (p.Tyr24Ter)
c.5463C>A (p.Tyr1821Ter)
c.5307C>A (p.Tyr1769Ter)
c.639C>A
n.838C>A
c.849C>A (p.Tyr283Ter)
n.439C>A
c.5649C>A (p.Tyr1883Ter)
c.1503C>A (p.Tyr501Ter)
c.906C>A (p.Tyr302Ter)
19g.13230166T>ACA404333687CACNA1Ac.5444A>T (p.Tyr1815Phe)
c.5450A>T (p.Tyr1817Phe)
c.863A>T
n.668A>T
c.605A>T (p.Tyr202Phe)
c.5447A>T (p.Tyr1816Phe)
n.1433A>T
c.495+1544A>T (n.495+1544A>T)
c.5453A>T (p.Tyr1818Phe)
c.71A>T (p.Tyr24Phe)
c.5462A>T (p.Tyr1821Phe)
c.5306A>T (p.Tyr1769Phe)
c.638A>T
n.837A>T
c.848A>T (p.Tyr283Phe)
n.438A>T
c.5648A>T (p.Tyr1883Phe)
c.1502A>T (p.Tyr501Phe)
c.905A>T (p.Tyr302Phe)
19g.13230166T>CCA404333689CACNA1Ac.5444A>G (p.Tyr1815Cys)
c.5450A>G (p.Tyr1817Cys)
c.863A>G
n.668A>G
c.605A>G (p.Tyr202Cys)
c.5447A>G (p.Tyr1816Cys)
n.1433A>G
c.495+1544A>G (n.495+1544A>G)
c.5453A>G (p.Tyr1818Cys)
c.71A>G (p.Tyr24Cys)
c.5462A>G (p.Tyr1821Cys)
c.5306A>G (p.Tyr1769Cys)
c.638A>G
n.837A>G
c.848A>G (p.Tyr283Cys)
n.438A>G
c.5648A>G (p.Tyr1883Cys)
c.1502A>G (p.Tyr501Cys)
c.905A>G (p.Tyr302Cys)
19g.13230166T>GCA404333692CACNA1Ac.5444A>C (p.Tyr1815Ser)
c.5450A>C (p.Tyr1817Ser)
c.863A>C
n.668A>C
c.605A>C (p.Tyr202Ser)
c.5447A>C (p.Tyr1816Ser)
n.1433A>C
c.495+1544A>C (n.495+1544A>C)
c.5453A>C (p.Tyr1818Ser)
c.71A>C (p.Tyr24Ser)
c.5462A>C (p.Tyr1821Ser)
c.5306A>C (p.Tyr1769Ser)
c.638A>C
n.837A>C
c.848A>C (p.Tyr283Ser)
n.438A>C
c.5648A>C (p.Tyr1883Ser)
c.1502A>C (p.Tyr501Ser)
c.905A>C (p.Tyr302Ser)
 dbSNP
19g.13230166T=CA2323793050CACNA1Ac.5444A= (p.Tyr1815=)
c.5450A= (p.Tyr1817=)
c.863A=
n.668A=
c.605A= (p.Tyr202=)
c.5447A= (p.Tyr1816=)
n.1433A=
c.495+1544A= (n.495+1544A=)
c.5453A= (p.Tyr1818=)
c.71A= (p.Tyr24=)
c.5462A= (p.Tyr1821=)
c.5306A= (p.Tyr1769=)
c.638A=
n.837A=
c.848A= (p.Tyr283=)
n.438A=
c.5648A= (p.Tyr1883=)
c.1502A= (p.Tyr501=)
c.905A= (p.Tyr302=)
19g.13230167A>CCA404333695CACNA1Ac.5443T>G (p.Tyr1815Asp)
c.5449T>G (p.Tyr1817Asp)
c.862T>G
n.667T>G
c.604T>G (p.Tyr202Asp)
c.5446T>G (p.Tyr1816Asp)
n.1432T>G
c.495+1543T>G (n.495+1543T>G)
c.5452T>G (p.Tyr1818Asp)
c.70T>G (p.Tyr24Asp)
c.5461T>G (p.Tyr1821Asp)
c.5305T>G (p.Tyr1769Asp)
c.637T>G
n.836T>G
c.847T>G (p.Tyr283Asp)
n.437T>G
c.5647T>G (p.Tyr1883Asp)
c.1501T>G (p.Tyr501Asp)
c.904T>G (p.Tyr302Asp)
19g.13230167A>GCA404333697CACNA1Ac.5443T>C (p.Tyr1815His)
c.5449T>C (p.Tyr1817His)
c.862T>C
n.667T>C
c.604T>C (p.Tyr202His)
c.5446T>C (p.Tyr1816His)
n.1432T>C
c.495+1543T>C (n.495+1543T>C)
c.5452T>C (p.Tyr1818His)
c.70T>C (p.Tyr24His)
c.5461T>C (p.Tyr1821His)
c.5305T>C (p.Tyr1769His)
c.637T>C
n.836T>C
c.847T>C (p.Tyr283His)
n.437T>C
c.5647T>C (p.Tyr1883His)
c.1501T>C (p.Tyr501His)
c.904T>C (p.Tyr302His)
19g.13230167A>TCA404333700CACNA1Ac.5443T>A (p.Tyr1815Asn)
c.5449T>A (p.Tyr1817Asn)
c.862T>A
n.667T>A
c.604T>A (p.Tyr202Asn)
c.5446T>A (p.Tyr1816Asn)
n.1432T>A
c.495+1543T>A (n.495+1543T>A)
c.5452T>A (p.Tyr1818Asn)
c.70T>A (p.Tyr24Asn)
c.5461T>A (p.Tyr1821Asn)
c.5305T>A (p.Tyr1769Asn)
c.637T>A
n.836T>A
c.847T>A (p.Tyr283Asn)
n.437T>A
c.5647T>A (p.Tyr1883Asn)
c.1501T>A (p.Tyr501Asn)
c.904T>A (p.Tyr302Asn)
19g.13230168C>ACA404333705CACNA1Ac.5442G>T (p.Glu1814Asp)
c.5448G>T (p.Glu1816Asp)
c.861G>T
n.666G>T
c.603G>T (p.Glu201Asp)
c.5445G>T (p.Glu1815Asp)
n.1431G>T
c.495+1542G>T (n.495+1542G>T)
c.5451G>T (p.Glu1817Asp)
c.69G>T (p.Glu23Asp)
c.5460G>T (p.Glu1820Asp)
c.5304G>T (p.Glu1768Asp)
c.636G>T
n.835G>T
c.846G>T (p.Glu282Asp)
n.436G>T
c.5646G>T (p.Glu1882Asp)
c.1500G>T (p.Glu500Asp)
c.903G>T (p.Glu301Asp)
19g.13230168C>GCA404333702CACNA1Ac.5442G>C (p.Glu1814Asp)
c.5448G>C (p.Glu1816Asp)
c.861G>C
n.666G>C
c.603G>C (p.Glu201Asp)
c.5445G>C (p.Glu1815Asp)
n.1431G>C
c.495+1542G>C (n.495+1542G>C)
c.5451G>C (p.Glu1817Asp)
c.69G>C (p.Glu23Asp)
c.5460G>C (p.Glu1820Asp)
c.5304G>C (p.Glu1768Asp)
c.636G>C
n.835G>C
c.846G>C (p.Glu282Asp)
n.436G>C
c.5646G>C (p.Glu1882Asp)
c.1500G>C (p.Glu500Asp)
c.903G>C (p.Glu301Asp)
19g.13230168C>TCA505657070CACNA1Ac.5442G>A (p.Glu1814=)
c.5448G>A (p.Glu1816=)
c.861G>A
n.666G>A
c.603G>A (p.Glu201=)
c.5445G>A (p.Glu1815=)
n.1431G>A
c.495+1542G>A (n.495+1542G>A)
c.5451G>A (p.Glu1817=)
c.69G>A (p.Glu23=)
c.5460G>A (p.Glu1820=)
c.5304G>A (p.Glu1768=)
c.636G>A
n.835G>A
c.846G>A (p.Glu282=)
n.436G>A
c.5646G>A (p.Glu1882=)
c.1500G>A (p.Glu500=)
c.903G>A (p.Glu301=)
19g.13230169T>ACA404333706CACNA1Ac.5441A>T (p.Glu1814Val)
c.5447A>T (p.Glu1816Val)
c.860A>T
n.665A>T
c.602A>T (p.Glu201Val)
c.5444A>T (p.Glu1815Val)
n.1430A>T
c.495+1541A>T (n.495+1541A>T)
c.5450A>T (p.Glu1817Val)
c.68A>T (p.Glu23Val)
c.5459A>T (p.Glu1820Val)
c.5303A>T (p.Glu1768Val)
c.635A>T
n.834A>T
c.845A>T (p.Glu282Val)
n.435A>T
c.5645A>T (p.Glu1882Val)
c.1499A>T (p.Glu500Val)
c.902A>T (p.Glu301Val)
19g.13230169T>CCA404333707CACNA1Ac.5441A>G (p.Glu1814Gly)
c.5447A>G (p.Glu1816Gly)
c.860A>G
n.665A>G
c.602A>G (p.Glu201Gly)
c.5444A>G (p.Glu1815Gly)
n.1430A>G
c.495+1541A>G (n.495+1541A>G)
c.5450A>G (p.Glu1817Gly)
c.68A>G (p.Glu23Gly)
c.5459A>G (p.Glu1820Gly)
c.5303A>G (p.Glu1768Gly)
c.635A>G
n.834A>G
c.845A>G (p.Glu282Gly)
n.435A>G
c.5645A>G (p.Glu1882Gly)
c.1499A>G (p.Glu500Gly)
c.902A>G (p.Glu301Gly)
19g.13230169T>GCA404333708CACNA1Ac.5441A>C (p.Glu1814Ala)
c.5447A>C (p.Glu1816Ala)
c.860A>C
n.665A>C
c.602A>C (p.Glu201Ala)
c.5444A>C (p.Glu1815Ala)
n.1430A>C
c.495+1541A>C (n.495+1541A>C)
c.5450A>C (p.Glu1817Ala)
c.68A>C (p.Glu23Ala)
c.5459A>C (p.Glu1820Ala)
c.5303A>C (p.Glu1768Ala)
c.635A>C
n.834A>C
c.845A>C (p.Glu282Ala)
n.435A>C
c.5645A>C (p.Glu1882Ala)
c.1499A>C (p.Glu500Ala)
c.902A>C (p.Glu301Ala)
19g.13230170C>ACA404333709CACNA1Ac.5440G>T (p.Glu1814Ter)
c.5446G>T (p.Glu1816Ter)
c.859G>T
n.664G>T
c.601G>T (p.Glu201Ter)
c.5443G>T (p.Glu1815Ter)
n.1429G>T
c.495+1540G>T (n.495+1540G>T)
c.5449G>T (p.Glu1817Ter)
c.67G>T (p.Glu23Ter)
c.5458G>T (p.Glu1820Ter)
c.5302G>T (p.Glu1768Ter)
c.634G>T
n.833G>T
c.844G>T (p.Glu282Ter)
n.434G>T
c.5644G>T (p.Glu1882Ter)
c.1498G>T (p.Glu500Ter)
c.901G>T (p.Glu301Ter)
19g.13230170C=CA2323793051CACNA1Ac.5440G= (p.Glu1814=)
c.5446G= (p.Glu1816=)
c.859G=
n.664G=
c.601G= (p.Glu201=)
c.5443G= (p.Glu1815=)
n.1429G=
c.495+1540G= (n.495+1540G=)
c.5449G= (p.Glu1817=)
c.67G= (p.Glu23=)
c.5458G= (p.Glu1820=)
c.5302G= (p.Glu1768=)
c.634G=
n.833G=
c.844G= (p.Glu282=)
n.434G=
c.5644G= (p.Glu1882=)
c.1498G= (p.Glu500=)
c.901G= (p.Glu301=)
19g.13230170C>GCA404333710CACNA1Ac.5440G>C (p.Glu1814Gln)
c.5446G>C (p.Glu1816Gln)
c.859G>C
n.664G>C
c.601G>C (p.Glu201Gln)
c.5443G>C (p.Glu1815Gln)
n.1429G>C
c.495+1540G>C (n.495+1540G>C)
c.5449G>C (p.Glu1817Gln)
c.67G>C (p.Glu23Gln)
c.5458G>C (p.Glu1820Gln)
c.5302G>C (p.Glu1768Gln)
c.634G>C
n.833G>C
c.844G>C (p.Glu282Gln)
n.434G>C
c.5644G>C (p.Glu1882Gln)
c.1498G>C (p.Glu500Gln)
c.901G>C (p.Glu301Gln)
 COSMIC COSMIC COSMIC COSMIC
19g.13230170C>TCA404333711CACNA1Ac.5440G>A (p.Glu1814Lys)
c.5446G>A (p.Glu1816Lys)
c.859G>A
n.664G>A
c.601G>A (p.Glu201Lys)
c.5443G>A (p.Glu1815Lys)
n.1429G>A
c.495+1540G>A (n.495+1540G>A)
c.5449G>A (p.Glu1817Lys)
c.67G>A (p.Glu23Lys)
c.5458G>A (p.Glu1820Lys)
c.5302G>A (p.Glu1768Lys)
c.634G>A
n.833G>A
c.844G>A (p.Glu282Lys)
n.434G>A
c.5644G>A (p.Glu1882Lys)
c.1498G>A (p.Glu500Lys)
c.901G>A (p.Glu301Lys)
19g.13230171A=CA2323793052CACNA1Ac.5439T= (p.Phe1813=)
c.5445T= (p.Phe1815=)
c.858T=
n.663T=
c.600T= (p.Phe200=)
c.5442T= (p.Phe1814=)
n.1428T=
c.495+1539T= (n.495+1539T=)
c.5448T= (p.Phe1816=)
c.66T= (p.Phe22=)
c.5457T= (p.Phe1819=)
c.5301T= (p.Phe1767=)
c.633T=
n.832T=
c.843T= (p.Phe281=)
n.433T=
c.5643T= (p.Phe1881=)
c.1497T= (p.Phe499=)
c.900T= (p.Phe300=)
19g.13230171A>CCA404333712CACNA1Ac.5439T>G (p.Phe1813Leu)
c.5445T>G (p.Phe1815Leu)
c.858T>G
n.663T>G
c.600T>G (p.Phe200Leu)
c.5442T>G (p.Phe1814Leu)
n.1428T>G
c.495+1539T>G (n.495+1539T>G)
c.5448T>G (p.Phe1816Leu)
c.66T>G (p.Phe22Leu)
c.5457T>G (p.Phe1819Leu)
c.5301T>G (p.Phe1767Leu)
c.633T>G
n.832T>G
c.843T>G (p.Phe281Leu)
n.433T>G
c.5643T>G (p.Phe1881Leu)
c.1497T>G (p.Phe499Leu)
c.900T>G (p.Phe300Leu)
 ClinVar dbSNP
19g.13230171A>GCA505657071CACNA1Ac.5439T>C (p.Phe1813=)
c.5445T>C (p.Phe1815=)
c.858T>C
n.663T>C
c.600T>C (p.Phe200=)
c.5442T>C (p.Phe1814=)
n.1428T>C
c.495+1539T>C (n.495+1539T>C)
c.5448T>C (p.Phe1816=)
c.66T>C (p.Phe22=)
c.5457T>C (p.Phe1819=)
c.5301T>C (p.Phe1767=)
c.633T>C
n.832T>C
c.843T>C (p.Phe281=)
n.433T>C
c.5643T>C (p.Phe1881=)
c.1497T>C (p.Phe499=)
c.900T>C (p.Phe300=)
19g.13230171A>TCA404333713CACNA1Ac.5439T>A (p.Phe1813Leu)
c.5445T>A (p.Phe1815Leu)
c.858T>A
n.663T>A
c.600T>A (p.Phe200Leu)
c.5442T>A (p.Phe1814Leu)
n.1428T>A
c.495+1539T>A (n.495+1539T>A)
c.5448T>A (p.Phe1816Leu)
c.66T>A (p.Phe22Leu)
c.5457T>A (p.Phe1819Leu)
c.5301T>A (p.Phe1767Leu)
c.633T>A
n.832T>A
c.843T>A (p.Phe281Leu)
n.433T>A
c.5643T>A (p.Phe1881Leu)
c.1497T>A (p.Phe499Leu)
c.900T>A (p.Phe300Leu)
19g.13230173dupCA1139666319CACNA1Ac.5439dup (p.Glu1814Ter)
c.5445dup (p.Glu1816Ter)
c.858dup
n.663dup
c.600dup (p.Glu201Ter)
c.5442dup (p.Glu1815Ter)
n.1428dup
c.495+1539dup (n.495+1539dup)
c.5448dup (p.Glu1817Ter)
c.66dup (p.Glu23Ter)
c.5457dup (p.Glu1820Ter)
c.5301dup (p.Glu1768Ter)
c.633dup
n.832dup
c.843dup (p.Glu282Ter)
n.433dup
c.5643dup (p.Glu1882Ter)
c.1497dup (p.Glu500Ter)
c.900dup (p.Glu301Ter)
 ClinVar dbSNP
19g.13230172_13230173delCA2582818199CACNA1Ac.5438_5439del (p.Phe1813Ter)
c.5444_5445del (p.Phe1815Ter)
c.857_858del
n.662_663del
c.599_600del (p.Phe200Ter)
c.5441_5442del (p.Phe1814Ter)
n.1427_1428del
c.495+1538_495+1539del (n.495+1538_495+1539del)
c.5447_5448del (p.Phe1816Ter)
c.65_66del (p.Phe22Ter)
c.5456_5457del (p.Phe1819Ter)
c.5300_5301del (p.Phe1767Ter)
c.632_633del
n.831_832del
c.842_843del (p.Phe281Ter)
n.432_433del
c.5642_5643del (p.Phe1881Ter)
c.1496_1497del (p.Phe499Ter)
c.899_900del (p.Phe300Ter)
 gnomAD v4
19g.13230172A>CCA404333714CACNA1Ac.5438T>G (p.Phe1813Cys)
c.5444T>G (p.Phe1815Cys)
c.857T>G
n.662T>G
c.599T>G (p.Phe200Cys)
c.5441T>G (p.Phe1814Cys)
n.1427T>G
c.495+1538T>G (n.495+1538T>G)
c.5447T>G (p.Phe1816Cys)
c.65T>G (p.Phe22Cys)
c.5456T>G (p.Phe1819Cys)
c.5300T>G (p.Phe1767Cys)
c.632T>G
n.831T>G
c.842T>G (p.Phe281Cys)
n.432T>G
c.5642T>G (p.Phe1881Cys)
c.1496T>G (p.Phe499Cys)
c.899T>G (p.Phe300Cys)
19g.13230172A>GCA404333715CACNA1Ac.5438T>C (p.Phe1813Ser)
c.5444T>C (p.Phe1815Ser)
c.857T>C
n.662T>C
c.599T>C (p.Phe200Ser)
c.5441T>C (p.Phe1814Ser)
n.1427T>C
c.495+1538T>C (n.495+1538T>C)
c.5447T>C (p.Phe1816Ser)
c.65T>C (p.Phe22Ser)
c.5456T>C (p.Phe1819Ser)
c.5300T>C (p.Phe1767Ser)
c.632T>C
n.831T>C
c.842T>C (p.Phe281Ser)
n.432T>C
c.5642T>C (p.Phe1881Ser)
c.1496T>C (p.Phe499Ser)
c.899T>C (p.Phe300Ser)
19g.13230172A>TCA404333716CACNA1Ac.5438T>A (p.Phe1813Tyr)
c.5444T>A (p.Phe1815Tyr)
c.857T>A
n.662T>A
c.599T>A (p.Phe200Tyr)
c.5441T>A (p.Phe1814Tyr)
n.1427T>A
c.495+1538T>A (n.495+1538T>A)
c.5447T>A (p.Phe1816Tyr)
c.65T>A (p.Phe22Tyr)
c.5456T>A (p.Phe1819Tyr)
c.5300T>A (p.Phe1767Tyr)
c.632T>A
n.831T>A
c.842T>A (p.Phe281Tyr)
n.432T>A
c.5642T>A (p.Phe1881Tyr)
c.1496T>A (p.Phe499Tyr)
c.899T>A (p.Phe300Tyr)
19g.13230173A>CCA404333717CACNA1Ac.5437T>G (p.Phe1813Val)
c.5443T>G (p.Phe1815Val)
c.856T>G
n.661T>G
c.598T>G (p.Phe200Val)
c.5440T>G (p.Phe1814Val)
n.1426T>G
c.495+1537T>G (n.495+1537T>G)
c.5446T>G (p.Phe1816Val)
c.64T>G (p.Phe22Val)
c.5455T>G (p.Phe1819Val)
c.5299T>G (p.Phe1767Val)
c.631T>G
n.830T>G
c.841T>G (p.Phe281Val)
n.431T>G
c.5641T>G (p.Phe1881Val)
c.1495T>G (p.Phe499Val)
c.898T>G (p.Phe300Val)
19g.13230173A>GCA404333718CACNA1Ac.5437T>C (p.Phe1813Leu)
c.5443T>C (p.Phe1815Leu)
c.856T>C
n.661T>C
c.598T>C (p.Phe200Leu)
c.5440T>C (p.Phe1814Leu)
n.1426T>C
c.495+1537T>C (n.495+1537T>C)
c.5446T>C (p.Phe1816Leu)
c.64T>C (p.Phe22Leu)
c.5455T>C (p.Phe1819Leu)
c.5299T>C (p.Phe1767Leu)
c.631T>C
n.830T>C
c.841T>C (p.Phe281Leu)
n.431T>C
c.5641T>C (p.Phe1881Leu)
c.1495T>C (p.Phe499Leu)
c.898T>C (p.Phe300Leu)
19g.13230173A>TCA404333719CACNA1Ac.5437T>A (p.Phe1813Ile)
c.5443T>A (p.Phe1815Ile)
c.856T>A
n.661T>A
c.598T>A (p.Phe200Ile)
c.5440T>A (p.Phe1814Ile)
n.1426T>A
c.495+1537T>A (n.495+1537T>A)
c.5446T>A (p.Phe1816Ile)
c.64T>A (p.Phe22Ile)
c.5455T>A (p.Phe1819Ile)
c.5299T>A (p.Phe1767Ile)
c.631T>A
n.830T>A
c.841T>A (p.Phe281Ile)
n.431T>A
c.5641T>A (p.Phe1881Ile)
c.1495T>A (p.Phe499Ile)
c.898T>A (p.Phe300Ile)
19g.13230174G>ACA505657072CACNA1Ac.5436C>T (p.Asn1812=)
c.5442C>T (p.Asn1814=)
c.855C>T
n.660C>T
c.597C>T (p.Asn199=)
c.5439C>T (p.Asn1813=)
n.1425C>T
c.495+1536C>T (n.495+1536C>T)
c.5445C>T (p.Asn1815=)
c.63C>T (p.Asn21=)
c.5454C>T (p.Asn1818=)
c.5298C>T (p.Asn1766=)
c.630C>T
n.829C>T
c.840C>T (p.Asn280=)
n.430C>T
c.5640C>T (p.Asn1880=)
c.1494C>T (p.Asn498=)
c.897C>T (p.Asn299=)
 gnomAD v4
19g.13230174G>CCA404333721CACNA1Ac.5436C>G (p.Asn1812Lys)
c.5442C>G (p.Asn1814Lys)
c.855C>G
n.660C>G
c.597C>G (p.Asn199Lys)
c.5439C>G (p.Asn1813Lys)
n.1425C>G
c.495+1536C>G (n.495+1536C>G)
c.5445C>G (p.Asn1815Lys)
c.63C>G (p.Asn21Lys)
c.5454C>G (p.Asn1818Lys)
c.5298C>G (p.Asn1766Lys)
c.630C>G
n.829C>G
c.840C>G (p.Asn280Lys)
n.430C>G
c.5640C>G (p.Asn1880Lys)
c.1494C>G (p.Asn498Lys)
c.897C>G (p.Asn299Lys)
19g.13230174G>TCA404333720CACNA1Ac.5436C>A (p.Asn1812Lys)
c.5442C>A (p.Asn1814Lys)
c.855C>A
n.660C>A
c.597C>A (p.Asn199Lys)
c.5439C>A (p.Asn1813Lys)
n.1425C>A
c.495+1536C>A (n.495+1536C>A)
c.5445C>A (p.Asn1815Lys)
c.63C>A (p.Asn21Lys)
c.5454C>A (p.Asn1818Lys)
c.5298C>A (p.Asn1766Lys)
c.630C>A
n.829C>A
c.840C>A (p.Asn280Lys)
n.430C>A
c.5640C>A (p.Asn1880Lys)
c.1494C>A (p.Asn498Lys)
c.897C>A (p.Asn299Lys)
19g.13230175T>ACA404333723CACNA1Ac.5435A>T (p.Asn1812Ile)
c.5441A>T (p.Asn1814Ile)
c.854A>T
n.659A>T
c.596A>T (p.Asn199Ile)
c.5438A>T (p.Asn1813Ile)
n.1424A>T
c.495+1535A>T (n.495+1535A>T)
c.5444A>T (p.Asn1815Ile)
c.62A>T (p.Asn21Ile)
c.5453A>T (p.Asn1818Ile)
c.5297A>T (p.Asn1766Ile)
c.629A>T
n.828A>T
c.839A>T (p.Asn280Ile)
n.429A>T
c.5639A>T (p.Asn1880Ile)
c.1493A>T (p.Asn498Ile)
c.896A>T (p.Asn299Ile)
19g.13230175T>CCA404333724CACNA1Ac.5435A>G (p.Asn1812Ser)
c.5441A>G (p.Asn1814Ser)
c.854A>G
n.659A>G
c.596A>G (p.Asn199Ser)
c.5438A>G (p.Asn1813Ser)
n.1424A>G
c.495+1535A>G (n.495+1535A>G)
c.5444A>G (p.Asn1815Ser)
c.62A>G (p.Asn21Ser)
c.5453A>G (p.Asn1818Ser)
c.5297A>G (p.Asn1766Ser)
c.629A>G
n.828A>G
c.839A>G (p.Asn280Ser)
n.429A>G
c.5639A>G (p.Asn1880Ser)
c.1493A>G (p.Asn498Ser)
c.896A>G (p.Asn299Ser)
19g.13230175T>GCA404333725CACNA1Ac.5435A>C (p.Asn1812Thr)
c.5441A>C (p.Asn1814Thr)
c.854A>C
n.659A>C
c.596A>C (p.Asn199Thr)
c.5438A>C (p.Asn1813Thr)
n.1424A>C
c.495+1535A>C (n.495+1535A>C)
c.5444A>C (p.Asn1815Thr)
c.62A>C (p.Asn21Thr)
c.5453A>C (p.Asn1818Thr)
c.5297A>C (p.Asn1766Thr)
c.629A>C
n.828A>C
c.839A>C (p.Asn280Thr)
n.429A>C
c.5639A>C (p.Asn1880Thr)
c.1493A>C (p.Asn498Thr)
c.896A>C (p.Asn299Thr)
19g.13230176T>ACA404333726CACNA1Ac.5434A>T (p.Asn1812Tyr)
c.5440A>T (p.Asn1814Tyr)
c.853A>T
n.658A>T
c.595A>T (p.Asn199Tyr)
c.5437A>T (p.Asn1813Tyr)
n.1423A>T
c.495+1534A>T (n.495+1534A>T)
c.5443A>T (p.Asn1815Tyr)
c.61A>T (p.Asn21Tyr)
c.5452A>T (p.Asn1818Tyr)
c.5296A>T (p.Asn1766Tyr)
c.628A>T
n.827A>T
c.838A>T (p.Asn280Tyr)
n.428A>T
c.5638A>T (p.Asn1880Tyr)
c.1492A>T (p.Asn498Tyr)
c.895A>T (p.Asn299Tyr)
19g.13230176T>CCA404333727CACNA1Ac.5434A>G (p.Asn1812Asp)
c.5440A>G (p.Asn1814Asp)
c.853A>G
n.658A>G
c.595A>G (p.Asn199Asp)
c.5437A>G (p.Asn1813Asp)
n.1423A>G
c.495+1534A>G (n.495+1534A>G)
c.5443A>G (p.Asn1815Asp)
c.61A>G (p.Asn21Asp)
c.5452A>G (p.Asn1818Asp)
c.5296A>G (p.Asn1766Asp)
c.628A>G
n.827A>G
c.838A>G (p.Asn280Asp)
n.428A>G
c.5638A>G (p.Asn1880Asp)
c.1492A>G (p.Asn498Asp)
c.895A>G (p.Asn299Asp)
19g.13230176T>GCA404333728CACNA1Ac.5434A>C (p.Asn1812His)
c.5440A>C (p.Asn1814His)
c.853A>C
n.658A>C
c.595A>C (p.Asn199His)
c.5437A>C (p.Asn1813His)
n.1423A>C
c.495+1534A>C (n.495+1534A>C)
c.5443A>C (p.Asn1815His)
c.61A>C (p.Asn21His)
c.5452A>C (p.Asn1818His)
c.5296A>C (p.Asn1766His)
c.628A>C
n.827A>C
c.838A>C (p.Asn280His)
n.428A>C
c.5638A>C (p.Asn1880His)
c.1492A>C (p.Asn498His)
c.895A>C (p.Asn299His)
19g.13230177G>ACA505657073CACNA1Ac.5433C>T (p.Asp1811=)
c.5439C>T (p.Asp1813=)
c.852C>T
n.657C>T
c.594C>T (p.Asp198=)
c.5436C>T (p.Asp1812=)
n.1422C>T
c.495+1533C>T (n.495+1533C>T)
c.5442C>T (p.Asp1814=)
c.60C>T (p.Asp20=)
c.5451C>T (p.Asp1817=)
c.5295C>T (p.Asp1765=)
c.627C>T
n.826C>T
c.837C>T (p.Asp279=)
n.427C>T
c.5637C>T (p.Asp1879=)
c.1491C>T (p.Asp497=)
c.894C>T (p.Asp298=)
19g.13230177G>CCA404333730CACNA1Ac.5433C>G (p.Asp1811Glu)
c.5439C>G (p.Asp1813Glu)
c.852C>G
n.657C>G
c.594C>G (p.Asp198Glu)
c.5436C>G (p.Asp1812Glu)
n.1422C>G
c.495+1533C>G (n.495+1533C>G)
c.5442C>G (p.Asp1814Glu)
c.60C>G (p.Asp20Glu)
c.5451C>G (p.Asp1817Glu)
c.5295C>G (p.Asp1765Glu)
c.627C>G
n.826C>G
c.837C>G (p.Asp279Glu)
n.427C>G
c.5637C>G (p.Asp1879Glu)
c.1491C>G (p.Asp497Glu)
c.894C>G (p.Asp298Glu)
19g.13230177G>TCA404333729CACNA1Ac.5433C>A (p.Asp1811Glu)
c.5439C>A (p.Asp1813Glu)
c.852C>A
n.657C>A
c.594C>A (p.Asp198Glu)
c.5436C>A (p.Asp1812Glu)
n.1422C>A
c.495+1533C>A (n.495+1533C>A)
c.5442C>A (p.Asp1814Glu)
c.60C>A (p.Asp20Glu)
c.5451C>A (p.Asp1817Glu)
c.5295C>A (p.Asp1765Glu)
c.627C>A
n.826C>A
c.837C>A (p.Asp279Glu)
n.427C>A
c.5637C>A (p.Asp1879Glu)
c.1491C>A (p.Asp497Glu)
c.894C>A (p.Asp298Glu)
 gnomAD v4
19g.13230178T>ACA404333731CACNA1Ac.5432A>T (p.Asp1811Val)
c.5438A>T (p.Asp1813Val)
c.851A>T
n.656A>T
c.593A>T (p.Asp198Val)
c.5435A>T (p.Asp1812Val)
n.1421A>T
c.495+1532A>T (n.495+1532A>T)
c.5441A>T (p.Asp1814Val)
c.59A>T (p.Asp20Val)
c.5450A>T (p.Asp1817Val)
c.5294A>T (p.Asp1765Val)
c.626A>T
n.825A>T
c.836A>T (p.Asp279Val)
n.426A>T
c.5636A>T (p.Asp1879Val)
c.1490A>T (p.Asp497Val)
c.893A>T (p.Asp298Val)
19g.13230178T>CCA404333732CACNA1Ac.5432A>G (p.Asp1811Gly)
c.5438A>G (p.Asp1813Gly)
c.851A>G
n.656A>G
c.593A>G (p.Asp198Gly)
c.5435A>G (p.Asp1812Gly)
n.1421A>G
c.495+1532A>G (n.495+1532A>G)
c.5441A>G (p.Asp1814Gly)
c.59A>G (p.Asp20Gly)
c.5450A>G (p.Asp1817Gly)
c.5294A>G (p.Asp1765Gly)
c.626A>G
n.825A>G
c.836A>G (p.Asp279Gly)
n.426A>G
c.5636A>G (p.Asp1879Gly)
c.1490A>G (p.Asp497Gly)
c.893A>G (p.Asp298Gly)
19g.13230178T>GCA404333733CACNA1Ac.5432A>C (p.Asp1811Ala)
c.5438A>C (p.Asp1813Ala)
c.851A>C
n.656A>C
c.593A>C (p.Asp198Ala)
c.5435A>C (p.Asp1812Ala)
n.1421A>C
c.495+1532A>C (n.495+1532A>C)
c.5441A>C (p.Asp1814Ala)
c.59A>C (p.Asp20Ala)
c.5450A>C (p.Asp1817Ala)
c.5294A>C (p.Asp1765Ala)
c.626A>C
n.825A>C
c.836A>C (p.Asp279Ala)
n.426A>C
c.5636A>C (p.Asp1879Ala)
c.1490A>C (p.Asp497Ala)
c.893A>C (p.Asp298Ala)
19g.13230179C>ACA404333734CACNA1Ac.5431G>T (p.Asp1811Tyr)
c.5437G>T (p.Asp1813Tyr)
c.850G>T
n.655G>T
c.592G>T (p.Asp198Tyr)
c.5434G>T (p.Asp1812Tyr)
n.1420G>T
c.495+1531G>T (n.495+1531G>T)
c.5440G>T (p.Asp1814Tyr)
c.58G>T (p.Asp20Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5293G>T (p.Asp1765Tyr)
c.625G>T
n.824G>T
c.835G>T (p.Asp279Tyr)
n.425G>T
c.5635G>T (p.Asp1879Tyr)
c.1489G>T (p.Asp497Tyr)
c.892G>T (p.Asp298Tyr)
19g.13230179C=CA2323793053CACNA1Ac.5431G= (p.Asp1811=)
c.5437G= (p.Asp1813=)
c.850G=
n.655G=
c.592G= (p.Asp198=)
c.5434G= (p.Asp1812=)
n.1420G=
c.495+1531G= (n.495+1531G=)
c.5440G= (p.Asp1814=)
c.58G= (p.Asp20=)
c.5449G= (p.Asp1817=)
c.5293G= (p.Asp1765=)
c.625G=
n.824G=
c.835G= (p.Asp279=)
n.425G=
c.5635G= (p.Asp1879=)
c.1489G= (p.Asp497=)
c.892G= (p.Asp298=)
19g.13230179C>GCA404333735CACNA1Ac.5431G>C (p.Asp1811His)
c.5437G>C (p.Asp1813His)
c.850G>C
n.655G>C
c.592G>C (p.Asp198His)
c.5434G>C (p.Asp1812His)
n.1420G>C
c.495+1531G>C (n.495+1531G>C)
c.5440G>C (p.Asp1814His)
c.58G>C (p.Asp20His)
c.5449G>C (p.Asp1817His)
c.5293G>C (p.Asp1765His)
c.625G>C
n.824G>C
c.835G>C (p.Asp279His)
n.425G>C
c.5635G>C (p.Asp1879His)
c.1489G>C (p.Asp497His)
c.892G>C (p.Asp298His)
19g.13230179C>TCA9239732CACNA1Ac.5431G>A (p.Asp1811Asn)
c.5437G>A (p.Asp1813Asn)
c.850G>A
n.655G>A
c.592G>A (p.Asp198Asn)
c.5434G>A (p.Asp1812Asn)
n.1420G>A
c.495+1531G>A (n.495+1531G>A)
c.5440G>A (p.Asp1814Asn)
c.58G>A (p.Asp20Asn)
c.5449G>A (p.Asp1817Asn)
c.5293G>A (p.Asp1765Asn)
c.625G>A
n.824G>A
c.835G>A (p.Asp279Asn)
n.425G>A
c.5635G>A (p.Asp1879Asn)
c.1489G>A (p.Asp497Asn)
c.892G>A (p.Asp298Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13230180C>ACA404333736CACNA1Ac.5430G>T (p.Met1810Ile)
c.5436G>T (p.Met1812Ile)
c.849G>T
n.654G>T
c.591G>T (p.Met197Ile)
c.5433G>T (p.Met1811Ile)
n.1419G>T
c.495+1530G>T (n.495+1530G>T)
c.5439G>T (p.Met1813Ile)
c.57G>T (p.Met19Ile)
c.5448G>T (p.Met1816Ile)
c.5292G>T (p.Met1764Ile)
c.624G>T
n.823G>T
c.834G>T (p.Met278Ile)
n.424G>T
c.5634G>T (p.Met1878Ile)
c.1488G>T (p.Met496Ile)
c.891G>T (p.Met297Ile)
19g.13230180C>GCA404333738CACNA1Ac.5430G>C (p.Met1810Ile)
c.5436G>C (p.Met1812Ile)
c.849G>C
n.654G>C
c.591G>C (p.Met197Ile)
c.5433G>C (p.Met1811Ile)
n.1419G>C
c.495+1530G>C (n.495+1530G>C)
c.5439G>C (p.Met1813Ile)
c.57G>C (p.Met19Ile)
c.5448G>C (p.Met1816Ile)
c.5292G>C (p.Met1764Ile)
c.624G>C
n.823G>C
c.834G>C (p.Met278Ile)
n.424G>C
c.5634G>C (p.Met1878Ile)
c.1488G>C (p.Met496Ile)
c.891G>C (p.Met297Ile)
19g.13230180C>TCA404333737CACNA1Ac.5430G>A (p.Met1810Ile)
c.5436G>A (p.Met1812Ile)
c.849G>A
n.654G>A
c.591G>A (p.Met197Ile)
c.5433G>A (p.Met1811Ile)
n.1419G>A
c.495+1530G>A (n.495+1530G>A)
c.5439G>A (p.Met1813Ile)
c.57G>A (p.Met19Ile)
c.5448G>A (p.Met1816Ile)
c.5292G>A (p.Met1764Ile)
c.624G>A
n.823G>A
c.834G>A (p.Met278Ile)
n.424G>A
c.5634G>A (p.Met1878Ile)
c.1488G>A (p.Met496Ile)
c.891G>A (p.Met297Ile)
 COSMIC COSMIC COSMIC COSMIC
19g.13230181A>CCA404333739CACNA1Ac.5429T>G (p.Met1810Arg)
c.5435T>G (p.Met1812Arg)
c.848T>G
n.653T>G
c.590T>G (p.Met197Arg)
c.5432T>G (p.Met1811Arg)
n.1418T>G
c.495+1529T>G (n.495+1529T>G)
c.5438T>G (p.Met1813Arg)
c.56T>G (p.Met19Arg)
c.5447T>G (p.Met1816Arg)
c.5291T>G (p.Met1764Arg)
c.623T>G
n.822T>G
c.833T>G (p.Met278Arg)
n.423T>G
c.5633T>G (p.Met1878Arg)
c.1487T>G (p.Met496Arg)
c.890T>G (p.Met297Arg)
19g.13230181A>GCA404333740CACNA1Ac.5429T>C (p.Met1810Thr)
c.5435T>C (p.Met1812Thr)
c.848T>C
n.653T>C
c.590T>C (p.Met197Thr)
c.5432T>C (p.Met1811Thr)
n.1418T>C
c.495+1529T>C (n.495+1529T>C)
c.5438T>C (p.Met1813Thr)
c.56T>C (p.Met19Thr)
c.5447T>C (p.Met1816Thr)
c.5291T>C (p.Met1764Thr)
c.623T>C
n.822T>C
c.833T>C (p.Met278Thr)
n.423T>C
c.5633T>C (p.Met1878Thr)
c.1487T>C (p.Met496Thr)
c.890T>C (p.Met297Thr)
19g.13230181A>TCA404333741CACNA1Ac.5429T>A (p.Met1810Lys)
c.5435T>A (p.Met1812Lys)
c.848T>A
n.653T>A
c.590T>A (p.Met197Lys)
c.5432T>A (p.Met1811Lys)
n.1418T>A
c.495+1529T>A (n.495+1529T>A)
c.5438T>A (p.Met1813Lys)
c.56T>A (p.Met19Lys)
c.5447T>A (p.Met1816Lys)
c.5291T>A (p.Met1764Lys)
c.623T>A
n.822T>A
c.833T>A (p.Met278Lys)
n.423T>A
c.5633T>A (p.Met1878Lys)
c.1487T>A (p.Met496Lys)
c.890T>A (p.Met297Lys)
19g.13230182T>ACA404333742CACNA1Ac.5428A>T (p.Met1810Leu)
c.5434A>T (p.Met1812Leu)
c.847A>T
n.652A>T
c.589A>T (p.Met197Leu)
c.5431A>T (p.Met1811Leu)
n.1417A>T
c.495+1528A>T (n.495+1528A>T)
c.5437A>T (p.Met1813Leu)
c.55A>T (p.Met19Leu)
c.5446A>T (p.Met1816Leu)
c.5290A>T (p.Met1764Leu)
c.622A>T
n.821A>T
c.832A>T (p.Met278Leu)
n.422A>T
c.5632A>T (p.Met1878Leu)
c.1486A>T (p.Met496Leu)
c.889A>T (p.Met297Leu)
19g.13230182T>CCA404333743CACNA1Ac.5428A>G (p.Met1810Val)
c.5434A>G (p.Met1812Val)
c.847A>G
n.652A>G
c.589A>G (p.Met197Val)
c.5431A>G (p.Met1811Val)
n.1417A>G
c.495+1528A>G (n.495+1528A>G)
c.5437A>G (p.Met1813Val)
c.55A>G (p.Met19Val)
c.5446A>G (p.Met1816Val)
c.5290A>G (p.Met1764Val)
c.622A>G
n.821A>G
c.832A>G (p.Met278Val)
n.422A>G
c.5632A>G (p.Met1878Val)
c.1486A>G (p.Met496Val)
c.889A>G (p.Met297Val)
19g.13230182T>GCA404333744CACNA1Ac.5428A>C (p.Met1810Leu)
c.5434A>C (p.Met1812Leu)
c.847A>C
n.652A>C
c.589A>C (p.Met197Leu)
c.5431A>C (p.Met1811Leu)
n.1417A>C
c.495+1528A>C (n.495+1528A>C)
c.5437A>C (p.Met1813Leu)
c.55A>C (p.Met19Leu)
c.5446A>C (p.Met1816Leu)
c.5290A>C (p.Met1764Leu)
c.622A>C
n.821A>C
c.832A>C (p.Met278Leu)
n.422A>C
c.5632A>C (p.Met1878Leu)
c.1486A>C (p.Met496Leu)
c.889A>C (p.Met297Leu)
19g.13230183G>ACA505657074CACNA1Ac.5427C>T (p.Ile1809=)
c.5433C>T (p.Ile1811=)
c.846C>T
n.651C>T
c.588C>T (p.Ile196=)
c.5430C>T (p.Ile1810=)
n.1416C>T
c.495+1527C>T (n.495+1527C>T)
c.5436C>T (p.Ile1812=)
c.54C>T (p.Ile18=)
c.5445C>T (p.Ile1815=)
c.5289C>T (p.Ile1763=)
c.621C>T
n.820C>T
c.831C>T (p.Ile277=)
n.421C>T
c.5631C>T (p.Ile1877=)
c.1485C>T (p.Ile495=)
c.888C>T (p.Ile296=)
19g.13230183G>CCA404333745CACNA1Ac.5427C>G (p.Ile1809Met)
c.5433C>G (p.Ile1811Met)
c.846C>G
n.651C>G
c.588C>G (p.Ile196Met)
c.5430C>G (p.Ile1810Met)
n.1416C>G
c.495+1527C>G (n.495+1527C>G)
c.5436C>G (p.Ile1812Met)
c.54C>G (p.Ile18Met)
c.5445C>G (p.Ile1815Met)
c.5289C>G (p.Ile1763Met)
c.621C>G
n.820C>G
c.831C>G (p.Ile277Met)
n.421C>G
c.5631C>G (p.Ile1877Met)
c.1485C>G (p.Ile495Met)
c.888C>G (p.Ile296Met)
19g.13230183G>TCA505657075CACNA1Ac.5427C>A (p.Ile1809=)
c.5433C>A (p.Ile1811=)
c.846C>A
n.651C>A
c.588C>A (p.Ile196=)
c.5430C>A (p.Ile1810=)
n.1416C>A
c.495+1527C>A (n.495+1527C>A)
c.5436C>A (p.Ile1812=)
c.54C>A (p.Ile18=)
c.5445C>A (p.Ile1815=)
c.5289C>A (p.Ile1763=)
c.621C>A
n.820C>A
c.831C>A (p.Ile277=)
n.421C>A
c.5631C>A (p.Ile1877=)
c.1485C>A (p.Ile495=)
c.888C>A (p.Ile296=)
19g.13230184A=CA2323793054CACNA1Ac.5426T= (p.Ile1809=)
c.5432T= (p.Ile1811=)
c.845T=
n.650T=
c.587T= (p.Ile196=)
c.5429T= (p.Ile1810=)
n.1415T=
c.495+1526T= (n.495+1526T=)
c.5435T= (p.Ile1812=)
c.53T= (p.Ile18=)
c.5444T= (p.Ile1815=)
c.5288T= (p.Ile1763=)
c.620T=
n.819T=
c.830T= (p.Ile277=)
n.420T=
c.5630T= (p.Ile1877=)
c.1484T= (p.Ile495=)
c.887T= (p.Ile296=)
19g.13230184A>CCA404333746CACNA1Ac.5426T>G (p.Ile1809Ser)
c.5432T>G (p.Ile1811Ser)
c.845T>G
n.650T>G
c.587T>G (p.Ile196Ser)
c.5429T>G (p.Ile1810Ser)
n.1415T>G
c.495+1526T>G (n.495+1526T>G)
c.5435T>G (p.Ile1812Ser)
c.53T>G (p.Ile18Ser)
c.5444T>G (p.Ile1815Ser)
c.5288T>G (p.Ile1763Ser)
c.620T>G
n.819T>G
c.830T>G (p.Ile277Ser)
n.420T>G
c.5630T>G (p.Ile1877Ser)
c.1484T>G (p.Ile495Ser)
c.887T>G (p.Ile296Ser)
19g.13230184A>GCA404333747CACNA1Ac.5426T>C (p.Ile1809Thr)
c.5432T>C (p.Ile1811Thr)
c.845T>C
n.650T>C
c.587T>C (p.Ile196Thr)
c.5429T>C (p.Ile1810Thr)
n.1415T>C
c.495+1526T>C (n.495+1526T>C)
c.5435T>C (p.Ile1812Thr)
c.53T>C (p.Ile18Thr)
c.5444T>C (p.Ile1815Thr)
c.5288T>C (p.Ile1763Thr)
c.620T>C
n.819T>C
c.830T>C (p.Ile277Thr)
n.420T>C
c.5630T>C (p.Ile1877Thr)
c.1484T>C (p.Ile495Thr)
c.887T>C (p.Ile296Thr)
 ClinVar dbSNP
19g.13230184A>TCA404333748CACNA1Ac.5426T>A (p.Ile1809Asn)
c.5432T>A (p.Ile1811Asn)
c.845T>A
n.650T>A
c.587T>A (p.Ile196Asn)
c.5429T>A (p.Ile1810Asn)
n.1415T>A
c.495+1526T>A (n.495+1526T>A)
c.5435T>A (p.Ile1812Asn)
c.53T>A (p.Ile18Asn)
c.5444T>A (p.Ile1815Asn)
c.5288T>A (p.Ile1763Asn)
c.620T>A
n.819T>A
c.830T>A (p.Ile277Asn)
n.420T>A
c.5630T>A (p.Ile1877Asn)
c.1484T>A (p.Ile495Asn)
c.887T>A (p.Ile296Asn)
19g.13230185T>ACA404333749CACNA1Ac.5425A>T (p.Ile1809Phe)
c.5431A>T (p.Ile1811Phe)
c.844A>T
n.649A>T
c.586A>T (p.Ile196Phe)
c.5428A>T (p.Ile1810Phe)
n.1414A>T
c.495+1525A>T (n.495+1525A>T)
c.5434A>T (p.Ile1812Phe)
c.52A>T (p.Ile18Phe)
c.5443A>T (p.Ile1815Phe)
c.5287A>T (p.Ile1763Phe)
c.619A>T
n.818A>T
c.829A>T (p.Ile277Phe)
n.419A>T
c.5629A>T (p.Ile1877Phe)
c.1483A>T (p.Ile495Phe)
c.886A>T (p.Ile296Phe)
19g.13230185T>CCA404333750CACNA1Ac.5425A>G (p.Ile1809Val)
c.5431A>G (p.Ile1811Val)
c.844A>G
n.649A>G
c.586A>G (p.Ile196Val)
c.5428A>G (p.Ile1810Val)
n.1414A>G
c.495+1525A>G (n.495+1525A>G)
c.5434A>G (p.Ile1812Val)
c.52A>G (p.Ile18Val)
c.5443A>G (p.Ile1815Val)
c.5287A>G (p.Ile1763Val)
c.619A>G
n.818A>G
c.829A>G (p.Ile277Val)
n.419A>G
c.5629A>G (p.Ile1877Val)
c.1483A>G (p.Ile495Val)
c.886A>G (p.Ile296Val)
 ClinVar
19g.13230185T>GCA254421CACNA1Ac.5425A>C (p.Ile1809Leu)
c.5431A>C (p.Ile1811Leu)
c.844A>C
n.649A>C
c.586A>C (p.Ile196Leu)
c.5428A>C (p.Ile1810Leu)
n.1414A>C
c.495+1525A>C (n.495+1525A>C)
c.5434A>C (p.Ile1812Leu)
c.52A>C (p.Ile18Leu)
c.5443A>C (p.Ile1815Leu)
c.5287A>C (p.Ile1763Leu)
c.619A>C
n.818A>C
c.829A>C (p.Ile277Leu)
n.419A>C
c.5629A>C (p.Ile1877Leu)
c.1483A>C (p.Ile495Leu)
c.886A>C (p.Ile296Leu)
 ClinVar dbSNP
19g.13230185T=CA2323793055CACNA1Ac.5425A= (p.Ile1809=)
c.5431A= (p.Ile1811=)
c.844A=
n.649A=
c.586A= (p.Ile196=)
c.5428A= (p.Ile1810=)
n.1414A=
c.495+1525A= (n.495+1525A=)
c.5434A= (p.Ile1812=)
c.52A= (p.Ile18=)
c.5443A= (p.Ile1815=)
c.5287A= (p.Ile1763=)
c.619A=
n.818A=
c.829A= (p.Ile277=)
n.419A=
c.5629A= (p.Ile1877=)
c.1483A= (p.Ile495=)
c.886A= (p.Ile296=)
19g.13230186G>ACA505657076CACNA1Ac.5424C>T (p.Val1808=)
c.5430C>T (p.Val1810=)
c.843C>T
n.648C>T
c.585C>T (p.Val195=)
c.5427C>T (p.Val1809=)
n.1413C>T
c.495+1524C>T (n.495+1524C>T)
c.5433C>T (p.Val1811=)
c.51C>T (p.Val17=)
c.5442C>T (p.Val1814=)
c.5286C>T (p.Val1762=)
c.618C>T
n.817C>T
c.828C>T (p.Val276=)
n.418C>T
c.5628C>T (p.Val1876=)
c.1482C>T (p.Val494=)
c.885C>T (p.Val295=)
 gnomAD v4
19g.13230186G>CCA505657077CACNA1Ac.5424C>G (p.Val1808=)
c.5430C>G (p.Val1810=)
c.843C>G
n.648C>G
c.585C>G (p.Val195=)
c.5427C>G (p.Val1809=)
n.1413C>G
c.495+1524C>G (n.495+1524C>G)
c.5433C>G (p.Val1811=)
c.51C>G (p.Val17=)
c.5442C>G (p.Val1814=)
c.5286C>G (p.Val1762=)
c.618C>G
n.817C>G
c.828C>G (p.Val276=)
n.418C>G
c.5628C>G (p.Val1876=)
c.1482C>G (p.Val494=)
c.885C>G (p.Val295=)
19g.13230186G>TCA505657078CACNA1Ac.5424C>A (p.Val1808=)
c.5430C>A (p.Val1810=)
c.843C>A
n.648C>A
c.585C>A (p.Val195=)
c.5427C>A (p.Val1809=)
n.1413C>A
c.495+1524C>A (n.495+1524C>A)
c.5433C>A (p.Val1811=)
c.51C>A (p.Val17=)
c.5442C>A (p.Val1814=)
c.5286C>A (p.Val1762=)
c.618C>A
n.817C>A
c.828C>A (p.Val276=)
n.418C>A
c.5628C>A (p.Val1876=)
c.1482C>A (p.Val494=)
c.885C>A (p.Val295=)
19g.13230187A>CCA404333753CACNA1Ac.5423T>G (p.Val1808Gly)
c.5429T>G (p.Val1810Gly)
c.842T>G
n.647T>G
c.584T>G (p.Val195Gly)
c.5426T>G (p.Val1809Gly)
n.1412T>G
c.495+1523T>G (n.495+1523T>G)
c.5432T>G (p.Val1811Gly)
c.50T>G (p.Val17Gly)
c.5441T>G (p.Val1814Gly)
c.5285T>G (p.Val1762Gly)
c.617T>G
n.816T>G
c.827T>G (p.Val276Gly)
n.417T>G
c.5627T>G (p.Val1876Gly)
c.1481T>G (p.Val494Gly)
c.884T>G (p.Val295Gly)
19g.13230187A>GCA404333751CACNA1Ac.5423T>C (p.Val1808Ala)
c.5429T>C (p.Val1810Ala)
c.842T>C
n.647T>C
c.584T>C (p.Val195Ala)
c.5426T>C (p.Val1809Ala)
n.1412T>C
c.495+1523T>C (n.495+1523T>C)
c.5432T>C (p.Val1811Ala)
c.50T>C (p.Val17Ala)
c.5441T>C (p.Val1814Ala)
c.5285T>C (p.Val1762Ala)
c.617T>C
n.816T>C
c.827T>C (p.Val276Ala)
n.417T>C
c.5627T>C (p.Val1876Ala)
c.1481T>C (p.Val494Ala)
c.884T>C (p.Val295Ala)
19g.13230187A>TCA404333752CACNA1Ac.5423T>A (p.Val1808Asp)
c.5429T>A (p.Val1810Asp)
c.842T>A
n.647T>A
c.584T>A (p.Val195Asp)
c.5426T>A (p.Val1809Asp)
n.1412T>A
c.495+1523T>A (n.495+1523T>A)
c.5432T>A (p.Val1811Asp)
c.50T>A (p.Val17Asp)
c.5441T>A (p.Val1814Asp)
c.5285T>A (p.Val1762Asp)
c.617T>A
n.816T>A
c.827T>A (p.Val276Asp)
n.417T>A
c.5627T>A (p.Val1876Asp)
c.1481T>A (p.Val494Asp)
c.884T>A (p.Val295Asp)
19g.13230188C>ACA404333754CACNA1Ac.5422G>T (p.Val1808Phe)
c.5428G>T (p.Val1810Phe)
c.841G>T
n.646G>T
c.583G>T (p.Val195Phe)
c.5425G>T (p.Val1809Phe)
n.1411G>T
c.495+1522G>T (n.495+1522G>T)
c.5431G>T (p.Val1811Phe)
c.49G>T (p.Val17Phe)
c.5440G>T (p.Val1814Phe)
c.5284G>T (p.Val1762Phe)
c.616G>T
n.815G>T
c.826G>T (p.Val276Phe)
n.416G>T
c.5626G>T (p.Val1876Phe)
c.1480G>T (p.Val494Phe)
c.883G>T (p.Val295Phe)
19g.13230188C=CA2323793056CACNA1Ac.5422G= (p.Val1808=)
c.5428G= (p.Val1810=)
c.841G=
n.646G=
c.583G= (p.Val195=)
c.5425G= (p.Val1809=)
n.1411G=
c.495+1522G= (n.495+1522G=)
c.5431G= (p.Val1811=)
c.49G= (p.Val17=)
c.5440G= (p.Val1814=)
c.5284G= (p.Val1762=)
c.616G=
n.815G=
c.826G= (p.Val276=)
n.416G=
c.5626G= (p.Val1876=)
c.1480G= (p.Val494=)
c.883G= (p.Val295=)
19g.13230188C>GCA404333755CACNA1Ac.5422G>C (p.Val1808Leu)
c.5428G>C (p.Val1810Leu)
c.841G>C
n.646G>C
c.583G>C (p.Val195Leu)
c.5425G>C (p.Val1809Leu)
n.1411G>C
c.495+1522G>C (n.495+1522G>C)
c.5431G>C (p.Val1811Leu)
c.49G>C (p.Val17Leu)
c.5440G>C (p.Val1814Leu)
c.5284G>C (p.Val1762Leu)
c.616G>C
n.815G>C
c.826G>C (p.Val276Leu)
n.416G>C
c.5626G>C (p.Val1876Leu)
c.1480G>C (p.Val494Leu)
c.883G>C (p.Val295Leu)
19g.13230188C>TCA404333756CACNA1Ac.5422G>A (p.Val1808Ile)
c.5428G>A (p.Val1810Ile)
c.841G>A
n.646G>A
c.583G>A (p.Val195Ile)
c.5425G>A (p.Val1809Ile)
n.1411G>A
c.495+1522G>A (n.495+1522G>A)
c.5431G>A (p.Val1811Ile)
c.49G>A (p.Val17Ile)
c.5440G>A (p.Val1814Ile)
c.5284G>A (p.Val1762Ile)
c.616G>A
n.815G>A
c.826G>A (p.Val276Ile)
n.416G>A
c.5626G>A (p.Val1876Ile)
c.1480G>A (p.Val494Ile)
c.883G>A (p.Val295Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13230189G>ACA9239733CACNA1Ac.5421C>T (p.Ala1807=)
c.5427C>T (p.Ala1809=)
c.840C>T
n.645C>T
c.582C>T (p.Ala194=)
c.5424C>T (p.Ala1808=)
n.1410C>T
c.495+1521C>T (n.495+1521C>T)
c.5430C>T (p.Ala1810=)
c.48C>T (p.Ala16=)
c.5439C>T (p.Ala1813=)
c.5283C>T (p.Ala1761=)
c.615C>T
n.814C>T
c.825C>T (p.Ala275=)
n.415C>T
c.5625C>T (p.Ala1875=)
c.1479C>T (p.Ala493=)
c.882C>T (p.Ala294=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.13230189G>CCA505657079CACNA1Ac.5421C>G (p.Ala1807=)
c.5427C>G (p.Ala1809=)
c.840C>G
n.645C>G
c.582C>G (p.Ala194=)
c.5424C>G (p.Ala1808=)
n.1410C>G
c.495+1521C>G (n.495+1521C>G)
c.5430C>G (p.Ala1810=)
c.48C>G (p.Ala16=)
c.5439C>G (p.Ala1813=)
c.5283C>G (p.Ala1761=)
c.615C>G
n.814C>G
c.825C>G (p.Ala275=)
n.415C>G
c.5625C>G (p.Ala1875=)
c.1479C>G (p.Ala493=)
c.882C>G (p.Ala294=)
 gnomAD v4
19g.13230189G=CA2323793057CACNA1Ac.5421C= (p.Ala1807=)
c.5427C= (p.Ala1809=)
c.840C=
n.645C=
c.582C= (p.Ala194=)
c.5424C= (p.Ala1808=)
n.1410C=
c.495+1521C= (n.495+1521C=)
c.5430C= (p.Ala1810=)
c.48C= (p.Ala16=)
c.5439C= (p.Ala1813=)
c.5283C= (p.Ala1761=)
c.615C=
n.814C=
c.825C= (p.Ala275=)
n.415C=
c.5625C= (p.Ala1875=)
c.1479C= (p.Ala493=)
c.882C= (p.Ala294=)
19g.13230189G>TCA505657080CACNA1Ac.5421C>A (p.Ala1807=)
c.5427C>A (p.Ala1809=)
c.840C>A
n.645C>A
c.582C>A (p.Ala194=)
c.5424C>A (p.Ala1808=)
n.1410C>A
c.495+1521C>A (n.495+1521C>A)
c.5430C>A (p.Ala1810=)
c.48C>A (p.Ala16=)
c.5439C>A (p.Ala1813=)
c.5283C>A (p.Ala1761=)
c.615C>A
n.814C>A
c.825C>A (p.Ala275=)
n.415C>A
c.5625C>A (p.Ala1875=)
c.1479C>A (p.Ala493=)
c.882C>A (p.Ala294=)
19g.13230190G>ACA404333757CACNA1Ac.5420C>T (p.Ala1807Val)
c.5426C>T (p.Ala1809Val)
c.839C>T
n.644C>T
c.581C>T (p.Ala194Val)
c.5423C>T (p.Ala1808Val)
n.1409C>T
c.495+1520C>T (n.495+1520C>T)
c.5429C>T (p.Ala1810Val)
c.47C>T (p.Ala16Val)
c.5438C>T (p.Ala1813Val)
c.5282C>T (p.Ala1761Val)
c.614C>T
n.813C>T
c.824C>T (p.Ala275Val)
n.414C>T
c.5624C>T (p.Ala1875Val)
c.1478C>T (p.Ala493Val)
c.881C>T (p.Ala294Val)
 COSMIC COSMIC COSMIC COSMIC
19g.13230190G>CCA404333758CACNA1Ac.5420C>G (p.Ala1807Gly)
c.5426C>G (p.Ala1809Gly)
c.839C>G
n.644C>G
c.581C>G (p.Ala194Gly)
c.5423C>G (p.Ala1808Gly)
n.1409C>G
c.495+1520C>G (n.495+1520C>G)
c.5429C>G (p.Ala1810Gly)
c.47C>G (p.Ala16Gly)
c.5438C>G (p.Ala1813Gly)
c.5282C>G (p.Ala1761Gly)
c.614C>G
n.813C>G
c.824C>G (p.Ala275Gly)
n.414C>G
c.5624C>G (p.Ala1875Gly)
c.1478C>G (p.Ala493Gly)
c.881C>G (p.Ala294Gly)
19g.13230190G>TCA404333759CACNA1Ac.5420C>A (p.Ala1807Asp)
c.5426C>A (p.Ala1809Asp)
c.839C>A
n.644C>A
c.581C>A (p.Ala194Asp)
c.5423C>A (p.Ala1808Asp)
n.1409C>A
c.495+1520C>A (n.495+1520C>A)
c.5429C>A (p.Ala1810Asp)
c.47C>A (p.Ala16Asp)
c.5438C>A (p.Ala1813Asp)
c.5282C>A (p.Ala1761Asp)
c.614C>A
n.813C>A
c.824C>A (p.Ala275Asp)
n.414C>A
c.5624C>A (p.Ala1875Asp)
c.1478C>A (p.Ala493Asp)
c.881C>A (p.Ala294Asp)
19g.13230191C>ACA404333760CACNA1Ac.5419G>T (p.Ala1807Ser)
c.5425G>T (p.Ala1809Ser)
c.838G>T
n.643G>T
c.580G>T (p.Ala194Ser)
c.5422G>T (p.Ala1808Ser)
n.1408G>T
c.495+1519G>T (n.495+1519G>T)
c.5428G>T (p.Ala1810Ser)
c.46G>T (p.Ala16Ser)
c.5437G>T (p.Ala1813Ser)
c.5281G>T (p.Ala1761Ser)
c.613G>T
n.812G>T
c.823G>T (p.Ala275Ser)
n.413G>T
c.5623G>T (p.Ala1875Ser)
c.1477G>T (p.Ala493Ser)
c.880G>T (p.Ala294Ser)
 ClinVar dbSNP
19g.13230191C=CA2323793058CACNA1Ac.5419G= (p.Ala1807=)
c.5425G= (p.Ala1809=)
c.838G=
n.643G=
c.580G= (p.Ala194=)
c.5422G= (p.Ala1808=)
n.1408G=
c.495+1519G= (n.495+1519G=)
c.5428G= (p.Ala1810=)
c.46G= (p.Ala16=)
c.5437G= (p.Ala1813=)
c.5281G= (p.Ala1761=)
c.613G=
n.812G=
c.823G= (p.Ala275=)
n.413G=
c.5623G= (p.Ala1875=)
c.1477G= (p.Ala493=)
c.880G= (p.Ala294=)
19g.13230191C>GCA404333761CACNA1Ac.5419G>C (p.Ala1807Pro)
c.5425G>C (p.Ala1809Pro)
c.838G>C
n.643G>C
c.580G>C (p.Ala194Pro)
c.5422G>C (p.Ala1808Pro)
n.1408G>C
c.495+1519G>C (n.495+1519G>C)
c.5428G>C (p.Ala1810Pro)
c.46G>C (p.Ala16Pro)
c.5437G>C (p.Ala1813Pro)
c.5281G>C (p.Ala1761Pro)
c.613G>C
n.812G>C
c.823G>C (p.Ala275Pro)
n.413G>C
c.5623G>C (p.Ala1875Pro)
c.1477G>C (p.Ala493Pro)
c.880G>C (p.Ala294Pro)
19g.13230191C>TCA404333762CACNA1Ac.5419G>A (p.Ala1807Thr)
c.5425G>A (p.Ala1809Thr)
c.838G>A
n.643G>A
c.580G>A (p.Ala194Thr)
c.5422G>A (p.Ala1808Thr)
n.1408G>A
c.495+1519G>A (n.495+1519G>A)
c.5428G>A (p.Ala1810Thr)
c.46G>A (p.Ala16Thr)
c.5437G>A (p.Ala1813Thr)
c.5281G>A (p.Ala1761Thr)
c.613G>A
n.812G>A
c.823G>A (p.Ala275Thr)
n.413G>A
c.5623G>A (p.Ala1875Thr)
c.1477G>A (p.Ala493Thr)
c.880G>A (p.Ala294Thr)
 ClinVar dbSNP
19g.13230192G>ACA9239734CACNA1Ac.5418C>T (p.Val1806=)
c.5424C>T (p.Val1808=)
c.837C>T
n.642C>T
c.579C>T (p.Val193=)
c.5421C>T (p.Val1807=)
n.1407C>T
c.495+1518C>T (n.495+1518C>T)
c.5427C>T (p.Val1809=)
c.45C>T (p.Val15=)
c.5436C>T (p.Val1812=)
c.5280C>T (p.Val1760=)
c.612C>T
n.811C>T
c.822C>T (p.Val274=)
n.412C>T
c.5622C>T (p.Val1874=)
c.1476C>T (p.Val492=)
c.879C>T (p.Val293=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13230192G>CCA505657081CACNA1Ac.5418C>G (p.Val1806=)
c.5424C>G (p.Val1808=)
c.837C>G
n.642C>G
c.579C>G (p.Val193=)
c.5421C>G (p.Val1807=)
n.1407C>G
c.495+1518C>G (n.495+1518C>G)
c.5427C>G (p.Val1809=)
c.45C>G (p.Val15=)
c.5436C>G (p.Val1812=)
c.5280C>G (p.Val1760=)
c.612C>G
n.811C>G
c.822C>G (p.Val274=)
n.412C>G
c.5622C>G (p.Val1874=)
c.1476C>G (p.Val492=)
c.879C>G (p.Val293=)
19g.13230192G=CA2323793059CACNA1Ac.5418C= (p.Val1806=)
c.5424C= (p.Val1808=)
c.837C=
n.642C=
c.579C= (p.Val193=)
c.5421C= (p.Val1807=)
n.1407C=
c.495+1518C= (n.495+1518C=)
c.5427C= (p.Val1809=)
c.45C= (p.Val15=)
c.5436C= (p.Val1812=)
c.5280C= (p.Val1760=)
c.612C=
n.811C=
c.822C= (p.Val274=)
n.412C=
c.5622C= (p.Val1874=)
c.1476C= (p.Val492=)
c.879C= (p.Val293=)
19g.13230192G>TCA505657082CACNA1Ac.5418C>A (p.Val1806=)
c.5424C>A (p.Val1808=)
c.837C>A
n.642C>A
c.579C>A (p.Val193=)
c.5421C>A (p.Val1807=)
n.1407C>A
c.495+1518C>A (n.495+1518C>A)
c.5427C>A (p.Val1809=)
c.45C>A (p.Val15=)
c.5436C>A (p.Val1812=)
c.5280C>A (p.Val1760=)
c.612C>A
n.811C>A
c.822C>A (p.Val274=)
n.412C>A
c.5622C>A (p.Val1874=)
c.1476C>A (p.Val492=)
c.879C>A (p.Val293=)
19g.13230193A>CCA404333765CACNA1Ac.5417T>G (p.Val1806Gly)
c.5423T>G (p.Val1808Gly)
c.836T>G
n.641T>G
c.578T>G (p.Val193Gly)
c.5420T>G (p.Val1807Gly)
n.1406T>G
c.495+1517T>G (n.495+1517T>G)
c.5426T>G (p.Val1809Gly)
c.44T>G (p.Val15Gly)
c.5435T>G (p.Val1812Gly)
c.5279T>G (p.Val1760Gly)
c.611T>G
n.810T>G
c.821T>G (p.Val274Gly)
n.411T>G
c.5621T>G (p.Val1874Gly)
c.1475T>G (p.Val492Gly)
c.878T>G (p.Val293Gly)
19g.13230193A>GCA404333764CACNA1Ac.5417T>C (p.Val1806Ala)
c.5423T>C (p.Val1808Ala)
c.836T>C
n.641T>C
c.578T>C (p.Val193Ala)
c.5420T>C (p.Val1807Ala)
n.1406T>C
c.495+1517T>C (n.495+1517T>C)
c.5426T>C (p.Val1809Ala)
c.44T>C (p.Val15Ala)
c.5435T>C (p.Val1812Ala)
c.5279T>C (p.Val1760Ala)
c.611T>C
n.810T>C
c.821T>C (p.Val274Ala)
n.411T>C
c.5621T>C (p.Val1874Ala)
c.1475T>C (p.Val492Ala)
c.878T>C (p.Val293Ala)
 ClinVar dbSNP
19g.13230193A>TCA404333763CACNA1Ac.5417T>A (p.Val1806Asp)
c.5423T>A (p.Val1808Asp)
c.836T>A
n.641T>A
c.578T>A (p.Val193Asp)
c.5420T>A (p.Val1807Asp)
n.1406T>A
c.495+1517T>A (n.495+1517T>A)
c.5426T>A (p.Val1809Asp)
c.44T>A (p.Val15Asp)
c.5435T>A (p.Val1812Asp)
c.5279T>A (p.Val1760Asp)
c.611T>A
n.810T>A
c.821T>A (p.Val274Asp)
n.411T>A
c.5621T>A (p.Val1874Asp)
c.1475T>A (p.Val492Asp)
c.878T>A (p.Val293Asp)
19g.13230194C>ACA404333766CACNA1Ac.5416G>T (p.Val1806Phe)
c.5422G>T (p.Val1808Phe)
c.835G>T
n.640G>T
c.577G>T (p.Val193Phe)
c.5419G>T (p.Val1807Phe)
n.1405G>T
c.495+1516G>T (n.495+1516G>T)
c.5425G>T (p.Val1809Phe)
c.43G>T (p.Val15Phe)
c.5434G>T (p.Val1812Phe)
c.5278G>T (p.Val1760Phe)
c.610G>T
n.809G>T
c.820G>T (p.Val274Phe)
n.410G>T
c.5620G>T (p.Val1874Phe)
c.1474G>T (p.Val492Phe)
c.877G>T (p.Val293Phe)
19g.13230194C>GCA404333770CACNA1Ac.5416G>C (p.Val1806Leu)
c.5422G>C (p.Val1808Leu)
c.835G>C
n.640G>C
c.577G>C (p.Val193Leu)
c.5419G>C (p.Val1807Leu)
n.1405G>C
c.495+1516G>C (n.495+1516G>C)
c.5425G>C (p.Val1809Leu)
c.43G>C (p.Val15Leu)
c.5434G>C (p.Val1812Leu)
c.5278G>C (p.Val1760Leu)
c.610G>C
n.809G>C
c.820G>C (p.Val274Leu)
n.410G>C
c.5620G>C (p.Val1874Leu)
c.1474G>C (p.Val492Leu)
c.877G>C (p.Val293Leu)
19g.13230194C>TCA404333768CACNA1Ac.5416G>A (p.Val1806Ile)
c.5422G>A (p.Val1808Ile)
c.835G>A
n.640G>A
c.577G>A (p.Val193Ile)
c.5419G>A (p.Val1807Ile)
n.1405G>A
c.495+1516G>A (n.495+1516G>A)
c.5425G>A (p.Val1809Ile)
c.43G>A (p.Val15Ile)
c.5434G>A (p.Val1812Ile)
c.5278G>A (p.Val1760Ile)
c.610G>A
n.809G>A
c.820G>A (p.Val274Ile)
n.410G>A
c.5620G>A (p.Val1874Ile)
c.1474G>A (p.Val492Ile)
c.877G>A (p.Val293Ile)
 ClinVar gnomAD v4
19g.13230195A=CA2323793060CACNA1Ac.5415T= (p.Phe1805=)
c.5421T= (p.Phe1807=)
c.834T=
n.639T=
c.576T= (p.Phe192=)
c.5418T= (p.Phe1806=)
n.1404T=
c.495+1515T= (n.495+1515T=)
c.5424T= (p.Phe1808=)
c.42T= (p.Phe14=)
c.5433T= (p.Phe1811=)
c.5277T= (p.Phe1759=)
c.609T=
n.808T=
c.819T= (p.Phe273=)
n.409T=
c.5619T= (p.Phe1873=)
c.1473T= (p.Phe491=)
c.876T= (p.Phe292=)
19g.13230195A>CCA404333773CACNA1Ac.5415T>G (p.Phe1805Leu)
c.5421T>G (p.Phe1807Leu)
c.834T>G
n.639T>G
c.576T>G (p.Phe192Leu)
c.5418T>G (p.Phe1806Leu)
n.1404T>G
c.495+1515T>G (n.495+1515T>G)
c.5424T>G (p.Phe1808Leu)
c.42T>G (p.Phe14Leu)
c.5433T>G (p.Phe1811Leu)
c.5277T>G (p.Phe1759Leu)
c.609T>G
n.808T>G
c.819T>G (p.Phe273Leu)
n.409T>G
c.5619T>G (p.Phe1873Leu)
c.1473T>G (p.Phe491Leu)
c.876T>G (p.Phe292Leu)
19g.13230195A>GCA16608060CACNA1Ac.5415T>C (p.Phe1805=)
c.5421T>C (p.Phe1807=)
c.834T>C
n.639T>C
c.576T>C (p.Phe192=)
c.5418T>C (p.Phe1806=)
n.1404T>C
c.495+1515T>C (n.495+1515T>C)
c.5424T>C (p.Phe1808=)
c.42T>C (p.Phe14=)
c.5433T>C (p.Phe1811=)
c.5277T>C (p.Phe1759=)
c.609T>C
n.808T>C
c.819T>C (p.Phe273=)
n.409T>C
c.5619T>C (p.Phe1873=)
c.1473T>C (p.Phe491=)
c.876T>C (p.Phe292=)
 ClinVar dbSNP
19g.13230195A>TCA404333776CACNA1Ac.5415T>A (p.Phe1805Leu)
c.5421T>A (p.Phe1807Leu)
c.834T>A
n.639T>A
c.576T>A (p.Phe192Leu)
c.5418T>A (p.Phe1806Leu)
n.1404T>A
c.495+1515T>A (n.495+1515T>A)
c.5424T>A (p.Phe1808Leu)
c.42T>A (p.Phe14Leu)
c.5433T>A (p.Phe1811Leu)
c.5277T>A (p.Phe1759Leu)
c.609T>A
n.808T>A
c.819T>A (p.Phe273Leu)
n.409T>A
c.5619T>A (p.Phe1873Leu)
c.1473T>A (p.Phe491Leu)
c.876T>A (p.Phe292Leu)
19g.13230196_13230197delCA2582818200CACNA1Ac.5414_5415del (p.Phe1805CysfsTer9)
c.5420_5421del (p.Phe1807CysfsTer9)
c.833_834del
n.638_639del
c.575_576del (p.Phe192CysfsTer9)
c.5417_5418del (p.Phe1806CysfsTer9)
n.1403_1404del
c.495+1514_495+1515del (n.495+1514_495+1515del)
c.5423_5424del (p.Phe1808CysfsTer9)
c.41_42del (p.Phe14CysfsTer9)
c.5432_5433del (p.Phe1811CysfsTer9)
c.5276_5277del (p.Phe1759CysfsTer9)
c.608_609del
n.807_808del
c.818_819del (p.Phe273CysfsTer9)
n.408_409del
c.5618_5619del (p.Phe1873CysfsTer9)
c.1472_1473del (p.Phe491CysfsTer9)
c.875_876del (p.Phe292CysfsTer9)
 gnomAD v4
19g.13230196A>CCA404333780CACNA1Ac.5414T>G (p.Phe1805Cys)
c.5420T>G (p.Phe1807Cys)
c.833T>G
n.638T>G
c.575T>G (p.Phe192Cys)
c.5417T>G (p.Phe1806Cys)
n.1403T>G
c.495+1514T>G (n.495+1514T>G)
c.5423T>G (p.Phe1808Cys)
c.41T>G (p.Phe14Cys)
c.5432T>G (p.Phe1811Cys)
c.5276T>G (p.Phe1759Cys)
c.608T>G
n.807T>G
c.818T>G (p.Phe273Cys)
n.408T>G
c.5618T>G (p.Phe1873Cys)
c.1472T>G (p.Phe491Cys)
c.875T>G (p.Phe292Cys)
19g.13230196A>GCA404333782CACNA1Ac.5414T>C (p.Phe1805Ser)
c.5420T>C (p.Phe1807Ser)
c.833T>C
n.638T>C
c.575T>C (p.Phe192Ser)
c.5417T>C (p.Phe1806Ser)
n.1403T>C
c.495+1514T>C (n.495+1514T>C)
c.5423T>C (p.Phe1808Ser)
c.41T>C (p.Phe14Ser)
c.5432T>C (p.Phe1811Ser)
c.5276T>C (p.Phe1759Ser)
c.608T>C
n.807T>C
c.818T>C (p.Phe273Ser)
n.408T>C
c.5618T>C (p.Phe1873Ser)
c.1472T>C (p.Phe491Ser)
c.875T>C (p.Phe292Ser)
19g.13230196A>TCA404333784CACNA1Ac.5414T>A (p.Phe1805Tyr)
c.5420T>A (p.Phe1807Tyr)
c.833T>A
n.638T>A
c.575T>A (p.Phe192Tyr)
c.5417T>A (p.Phe1806Tyr)
n.1403T>A
c.495+1514T>A (n.495+1514T>A)
c.5423T>A (p.Phe1808Tyr)
c.41T>A (p.Phe14Tyr)
c.5432T>A (p.Phe1811Tyr)
c.5276T>A (p.Phe1759Tyr)
c.608T>A
n.807T>A
c.818T>A (p.Phe273Tyr)
n.408T>A
c.5618T>A (p.Phe1873Tyr)
c.1472T>A (p.Phe491Tyr)
c.875T>A (p.Phe292Tyr)
19g.13230197A>CCA404333787CACNA1Ac.5413T>G (p.Phe1805Val)
c.5419T>G (p.Phe1807Val)
c.832T>G
n.637T>G
c.574T>G (p.Phe192Val)
c.5416T>G (p.Phe1806Val)
n.1402T>G
c.495+1513T>G (n.495+1513T>G)
c.5422T>G (p.Phe1808Val)
c.40T>G (p.Phe14Val)
c.5431T>G (p.Phe1811Val)
c.5275T>G (p.Phe1759Val)
c.607T>G
n.806T>G
c.817T>G (p.Phe273Val)
n.407T>G
c.5617T>G (p.Phe1873Val)
c.1471T>G (p.Phe491Val)
c.874T>G (p.Phe292Val)
19g.13230197A>GCA404333788CACNA1Ac.5413T>C (p.Phe1805Leu)
c.5419T>C (p.Phe1807Leu)
c.832T>C
n.637T>C
c.574T>C (p.Phe192Leu)
c.5416T>C (p.Phe1806Leu)
n.1402T>C
c.495+1513T>C (n.495+1513T>C)
c.5422T>C (p.Phe1808Leu)
c.40T>C (p.Phe14Leu)
c.5431T>C (p.Phe1811Leu)
c.5275T>C (p.Phe1759Leu)
c.607T>C
n.806T>C
c.817T>C (p.Phe273Leu)
n.407T>C
c.5617T>C (p.Phe1873Leu)
c.1471T>C (p.Phe491Leu)
c.874T>C (p.Phe292Leu)
19g.13230197A>TCA404333789CACNA1Ac.5413T>A (p.Phe1805Ile)
c.5419T>A (p.Phe1807Ile)
c.832T>A
n.637T>A
c.574T>A (p.Phe192Ile)
c.5416T>A (p.Phe1806Ile)
n.1402T>A
c.495+1513T>A (n.495+1513T>A)
c.5422T>A (p.Phe1808Ile)
c.40T>A (p.Phe14Ile)
c.5431T>A (p.Phe1811Ile)
c.5275T>A (p.Phe1759Ile)
c.607T>A
n.806T>A
c.817T>A (p.Phe273Ile)
n.407T>A
c.5617T>A (p.Phe1873Ile)
c.1471T>A (p.Phe491Ile)
c.874T>A (p.Phe292Ile)

Number of alleles fetched