Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13231749delCA2695201649CACNA1Ac.5365del (p.Tyr1789ThrfsTer12)
c.5371del (p.Tyr1791ThrfsTer12)
c.784del
n.589del
c.526del (p.Tyr176ThrfsTer12)
c.5368del (p.Tyr1790ThrfsTer12)
n.1354del
c.460del (p.Tyr154ThrfsTer?)
c.5374del (p.Tyr1792ThrfsTer12)
c.5383del (p.Tyr1795ThrfsTer12)
c.5227del (p.Tyr1743ThrfsTer12)
c.559del
n.758del
c.769del (p.Tyr257ThrfsTer12)
n.359del
c.5569del (p.Tyr1857ThrfsTer12)
c.1423del (p.Tyr475ThrfsTer12)
c.826del (p.Tyr276ThrfsTer12)
19g.13231749A=CA2323793790CACNA1Ac.5361T= (p.Tyr1787=)
c.5367T= (p.Tyr1789=)
c.780T=
n.585T=
c.522T= (p.Tyr174=)
c.5364T= (p.Tyr1788=)
n.1350T=
c.456T= (p.Tyr152=)
c.5370T= (p.Tyr1790=)
c.5379T= (p.Tyr1793=)
c.5223T= (p.Tyr1741=)
c.555T=
n.754T=
c.765T= (p.Tyr255=)
n.355T=
c.5565T= (p.Tyr1855=)
c.1419T= (p.Tyr473=)
c.822T= (p.Tyr274=)
19g.13231749A>CCA404334409CACNA1Ac.5361T>G (p.Tyr1787Ter)
c.5367T>G (p.Tyr1789Ter)
c.780T>G
n.585T>G
c.522T>G (p.Tyr174Ter)
c.5364T>G (p.Tyr1788Ter)
n.1350T>G
c.456T>G (p.Tyr152Ter)
c.5370T>G (p.Tyr1790Ter)
c.5379T>G (p.Tyr1793Ter)
c.5223T>G (p.Tyr1741Ter)
c.555T>G
n.754T>G
c.765T>G (p.Tyr255Ter)
n.355T>G
c.5565T>G (p.Tyr1855Ter)
c.1419T>G (p.Tyr473Ter)
c.822T>G (p.Tyr274Ter)
19g.13231749A>GCA505657123CACNA1Ac.5361T>C (p.Tyr1787=)
c.5367T>C (p.Tyr1789=)
c.780T>C
n.585T>C
c.522T>C (p.Tyr174=)
c.5364T>C (p.Tyr1788=)
n.1350T>C
c.456T>C (p.Tyr152=)
c.5370T>C (p.Tyr1790=)
c.5379T>C (p.Tyr1793=)
c.5223T>C (p.Tyr1741=)
c.555T>C
n.754T>C
c.765T>C (p.Tyr255=)
n.355T>C
c.5565T>C (p.Tyr1855=)
c.1419T>C (p.Tyr473=)
c.822T>C (p.Tyr274=)
 dbSNP
19g.13231749A>TCA404334411CACNA1Ac.5361T>A (p.Tyr1787Ter)
c.5367T>A (p.Tyr1789Ter)
c.780T>A
n.585T>A
c.522T>A (p.Tyr174Ter)
c.5364T>A (p.Tyr1788Ter)
n.1350T>A
c.456T>A (p.Tyr152Ter)
c.5370T>A (p.Tyr1790Ter)
c.5379T>A (p.Tyr1793Ter)
c.5223T>A (p.Tyr1741Ter)
c.555T>A
n.754T>A
c.765T>A (p.Tyr255Ter)
n.355T>A
c.5565T>A (p.Tyr1855Ter)
c.1419T>A (p.Tyr473Ter)
c.822T>A (p.Tyr274Ter)
19g.13231750T>ACA404334413CACNA1Ac.5360A>T (p.Tyr1787Phe)
c.5366A>T (p.Tyr1789Phe)
c.779A>T
n.584A>T
c.521A>T (p.Tyr174Phe)
c.5363A>T (p.Tyr1788Phe)
n.1349A>T
c.455A>T (p.Tyr152Phe)
c.5369A>T (p.Tyr1790Phe)
c.5378A>T (p.Tyr1793Phe)
c.5222A>T (p.Tyr1741Phe)
c.554A>T
n.753A>T
c.764A>T (p.Tyr255Phe)
n.354A>T
c.5564A>T (p.Tyr1855Phe)
c.1418A>T (p.Tyr473Phe)
c.821A>T (p.Tyr274Phe)
19g.13231750T>CCA404334415CACNA1Ac.5360A>G (p.Tyr1787Cys)
c.5366A>G (p.Tyr1789Cys)
c.779A>G
n.584A>G
c.521A>G (p.Tyr174Cys)
c.5363A>G (p.Tyr1788Cys)
n.1349A>G
c.455A>G (p.Tyr152Cys)
c.5369A>G (p.Tyr1790Cys)
c.5378A>G (p.Tyr1793Cys)
c.5222A>G (p.Tyr1741Cys)
c.554A>G
n.753A>G
c.764A>G (p.Tyr255Cys)
n.354A>G
c.5564A>G (p.Tyr1855Cys)
c.1418A>G (p.Tyr473Cys)
c.821A>G (p.Tyr274Cys)
 COSMIC COSMIC COSMIC COSMIC
19g.13231750T>GCA404334418CACNA1Ac.5360A>C (p.Tyr1787Ser)
c.5366A>C (p.Tyr1789Ser)
c.779A>C
n.584A>C
c.521A>C (p.Tyr174Ser)
c.5363A>C (p.Tyr1788Ser)
n.1349A>C
c.455A>C (p.Tyr152Ser)
c.5369A>C (p.Tyr1790Ser)
c.5378A>C (p.Tyr1793Ser)
c.5222A>C (p.Tyr1741Ser)
c.554A>C
n.753A>C
c.764A>C (p.Tyr255Ser)
n.354A>C
c.5564A>C (p.Tyr1855Ser)
c.1418A>C (p.Tyr473Ser)
c.821A>C (p.Tyr274Ser)
19g.13231751A>CCA404334420CACNA1Ac.5359T>G (p.Tyr1787Asp)
c.5365T>G (p.Tyr1789Asp)
c.778T>G
n.583T>G
c.520T>G (p.Tyr174Asp)
c.5362T>G (p.Tyr1788Asp)
n.1348T>G
c.454T>G (p.Tyr152Asp)
c.5368T>G (p.Tyr1790Asp)
c.5377T>G (p.Tyr1793Asp)
c.5221T>G (p.Tyr1741Asp)
c.553T>G
n.752T>G
c.763T>G (p.Tyr255Asp)
n.353T>G
c.5563T>G (p.Tyr1855Asp)
c.1417T>G (p.Tyr473Asp)
c.820T>G (p.Tyr274Asp)
19g.13231751A>GCA404334422CACNA1Ac.5359T>C (p.Tyr1787His)
c.5365T>C (p.Tyr1789His)
c.778T>C
n.583T>C
c.520T>C (p.Tyr174His)
c.5362T>C (p.Tyr1788His)
n.1348T>C
c.454T>C (p.Tyr152His)
c.5368T>C (p.Tyr1790His)
c.5377T>C (p.Tyr1793His)
c.5221T>C (p.Tyr1741His)
c.553T>C
n.752T>C
c.763T>C (p.Tyr255His)
n.353T>C
c.5563T>C (p.Tyr1855His)
c.1417T>C (p.Tyr473His)
c.820T>C (p.Tyr274His)
19g.13231751A>TCA404334424CACNA1Ac.5359T>A (p.Tyr1787Asn)
c.5365T>A (p.Tyr1789Asn)
c.778T>A
n.583T>A
c.520T>A (p.Tyr174Asn)
c.5362T>A (p.Tyr1788Asn)
n.1348T>A
c.454T>A (p.Tyr152Asn)
c.5368T>A (p.Tyr1790Asn)
c.5377T>A (p.Tyr1793Asn)
c.5221T>A (p.Tyr1741Asn)
c.553T>A
n.752T>A
c.763T>A (p.Tyr255Asn)
n.353T>A
c.5563T>A (p.Tyr1855Asn)
c.1417T>A (p.Tyr473Asn)
c.820T>A (p.Tyr274Asn)
19g.13231752A>CCA505657124CACNA1Ac.5358T>G (p.Ala1786=)
c.5364T>G (p.Ala1788=)
c.777T>G
n.582T>G
c.519T>G (p.Ala173=)
c.5361T>G (p.Ala1787=)
n.1347T>G
c.453T>G (p.Ala151=)
c.5367T>G (p.Ala1789=)
c.5376T>G (p.Ala1792=)
c.5220T>G (p.Ala1740=)
c.552T>G
n.751T>G
c.762T>G (p.Ala254=)
n.352T>G
c.5562T>G (p.Ala1854=)
c.1416T>G (p.Ala472=)
c.819T>G (p.Ala273=)
19g.13231752A>GCA505657125CACNA1Ac.5358T>C (p.Ala1786=)
c.5364T>C (p.Ala1788=)
c.777T>C
n.582T>C
c.519T>C (p.Ala173=)
c.5361T>C (p.Ala1787=)
n.1347T>C
c.453T>C (p.Ala151=)
c.5367T>C (p.Ala1789=)
c.5376T>C (p.Ala1792=)
c.5220T>C (p.Ala1740=)
c.552T>C
n.751T>C
c.762T>C (p.Ala254=)
n.352T>C
c.5562T>C (p.Ala1854=)
c.1416T>C (p.Ala472=)
c.819T>C (p.Ala273=)
19g.13231752A>TCA505657126CACNA1Ac.5358T>A (p.Ala1786=)
c.5364T>A (p.Ala1788=)
c.777T>A
n.582T>A
c.519T>A (p.Ala173=)
c.5361T>A (p.Ala1787=)
n.1347T>A
c.453T>A (p.Ala151=)
c.5367T>A (p.Ala1789=)
c.5376T>A (p.Ala1792=)
c.5220T>A (p.Ala1740=)
c.552T>A
n.751T>A
c.762T>A (p.Ala254=)
n.352T>A
c.5562T>A (p.Ala1854=)
c.1416T>A (p.Ala472=)
c.819T>A (p.Ala273=)
19g.13231753G>ACA404334427CACNA1Ac.5357C>T (p.Ala1786Val)
c.5363C>T (p.Ala1788Val)
c.776C>T
n.581C>T
c.518C>T (p.Ala173Val)
c.5360C>T (p.Ala1787Val)
n.1346C>T
c.452C>T (p.Ala151Val)
c.5366C>T (p.Ala1789Val)
c.5375C>T (p.Ala1792Val)
c.5219C>T (p.Ala1740Val)
c.551C>T
n.750C>T
c.761C>T (p.Ala254Val)
n.351C>T
c.5561C>T (p.Ala1854Val)
c.1415C>T (p.Ala472Val)
c.818C>T (p.Ala273Val)
19g.13231753G>CCA404334429CACNA1Ac.5357C>G (p.Ala1786Gly)
c.5363C>G (p.Ala1788Gly)
c.776C>G
n.581C>G
c.518C>G (p.Ala173Gly)
c.5360C>G (p.Ala1787Gly)
n.1346C>G
c.452C>G (p.Ala151Gly)
c.5366C>G (p.Ala1789Gly)
c.5375C>G (p.Ala1792Gly)
c.5219C>G (p.Ala1740Gly)
c.551C>G
n.750C>G
c.761C>G (p.Ala254Gly)
n.351C>G
c.5561C>G (p.Ala1854Gly)
c.1415C>G (p.Ala472Gly)
c.818C>G (p.Ala273Gly)
19g.13231753G>TCA404334431CACNA1Ac.5357C>A (p.Ala1786Asp)
c.5363C>A (p.Ala1788Asp)
c.776C>A
n.581C>A
c.518C>A (p.Ala173Asp)
c.5360C>A (p.Ala1787Asp)
n.1346C>A
c.452C>A (p.Ala151Asp)
c.5366C>A (p.Ala1789Asp)
c.5375C>A (p.Ala1792Asp)
c.5219C>A (p.Ala1740Asp)
c.551C>A
n.750C>A
c.761C>A (p.Ala254Asp)
n.351C>A
c.5561C>A (p.Ala1854Asp)
c.1415C>A (p.Ala472Asp)
c.818C>A (p.Ala273Asp)
19g.13231754C>ACA404334438CACNA1Ac.5356G>T (p.Ala1786Ser)
c.5362G>T (p.Ala1788Ser)
c.775G>T
n.580G>T
c.517G>T (p.Ala173Ser)
c.5359G>T (p.Ala1787Ser)
n.1345G>T
c.451G>T (p.Ala151Ser)
c.5365G>T (p.Ala1789Ser)
c.5374G>T (p.Ala1792Ser)
c.5218G>T (p.Ala1740Ser)
c.550G>T
n.749G>T
c.760G>T (p.Ala254Ser)
n.350G>T
c.5560G>T (p.Ala1854Ser)
c.1414G>T (p.Ala472Ser)
c.817G>T (p.Ala273Ser)
 ClinVar
19g.13231754C>GCA404334436CACNA1Ac.5356G>C (p.Ala1786Pro)
c.5362G>C (p.Ala1788Pro)
c.775G>C
n.580G>C
c.517G>C (p.Ala173Pro)
c.5359G>C (p.Ala1787Pro)
n.1345G>C
c.451G>C (p.Ala151Pro)
c.5365G>C (p.Ala1789Pro)
c.5374G>C (p.Ala1792Pro)
c.5218G>C (p.Ala1740Pro)
c.550G>C
n.749G>C
c.760G>C (p.Ala254Pro)
n.350G>C
c.5560G>C (p.Ala1854Pro)
c.1414G>C (p.Ala472Pro)
c.817G>C (p.Ala273Pro)
19g.13231754C>TCA404334434CACNA1Ac.5356G>A (p.Ala1786Thr)
c.5362G>A (p.Ala1788Thr)
c.775G>A
n.580G>A
c.517G>A (p.Ala173Thr)
c.5359G>A (p.Ala1787Thr)
n.1345G>A
c.451G>A (p.Ala151Thr)
c.5365G>A (p.Ala1789Thr)
c.5374G>A (p.Ala1792Thr)
c.5218G>A (p.Ala1740Thr)
c.550G>A
n.749G>A
c.760G>A (p.Ala254Thr)
n.350G>A
c.5560G>A (p.Ala1854Thr)
c.1414G>A (p.Ala472Thr)
c.817G>A (p.Ala273Thr)
19g.13231755A>CCA404334440CACNA1Ac.5355T>G (p.Phe1785Leu)
c.5361T>G (p.Phe1787Leu)
c.774T>G
n.579T>G
c.516T>G (p.Phe172Leu)
c.5358T>G (p.Phe1786Leu)
n.1344T>G
c.450T>G (p.Phe150Leu)
c.5364T>G (p.Phe1788Leu)
c.5373T>G (p.Phe1791Leu)
c.5217T>G (p.Phe1739Leu)
c.549T>G
n.748T>G
c.759T>G (p.Phe253Leu)
n.349T>G
c.5559T>G (p.Phe1853Leu)
c.1413T>G (p.Phe471Leu)
c.816T>G (p.Phe272Leu)
19g.13231755A>GCA505657127CACNA1Ac.5355T>C (p.Phe1785=)
c.5361T>C (p.Phe1787=)
c.774T>C
n.579T>C
c.516T>C (p.Phe172=)
c.5358T>C (p.Phe1786=)
n.1344T>C
c.450T>C (p.Phe150=)
c.5364T>C (p.Phe1788=)
c.5373T>C (p.Phe1791=)
c.5217T>C (p.Phe1739=)
c.549T>C
n.748T>C
c.759T>C (p.Phe253=)
n.349T>C
c.5559T>C (p.Phe1853=)
c.1413T>C (p.Phe471=)
c.816T>C (p.Phe272=)
19g.13231755A>TCA404334442CACNA1Ac.5355T>A (p.Phe1785Leu)
c.5361T>A (p.Phe1787Leu)
c.774T>A
n.579T>A
c.516T>A (p.Phe172Leu)
c.5358T>A (p.Phe1786Leu)
n.1344T>A
c.450T>A (p.Phe150Leu)
c.5364T>A (p.Phe1788Leu)
c.5373T>A (p.Phe1791Leu)
c.5217T>A (p.Phe1739Leu)
c.549T>A
n.748T>A
c.759T>A (p.Phe253Leu)
n.349T>A
c.5559T>A (p.Phe1853Leu)
c.1413T>A (p.Phe471Leu)
c.816T>A (p.Phe272Leu)
19g.13231756A>CCA404334444CACNA1Ac.5354T>G (p.Phe1785Cys)
c.5360T>G (p.Phe1787Cys)
c.773T>G
n.578T>G
c.515T>G (p.Phe172Cys)
c.5357T>G (p.Phe1786Cys)
n.1343T>G
c.449T>G (p.Phe150Cys)
c.5363T>G (p.Phe1788Cys)
c.5372T>G (p.Phe1791Cys)
c.5216T>G (p.Phe1739Cys)
c.548T>G
n.747T>G
c.758T>G (p.Phe253Cys)
n.348T>G
c.5558T>G (p.Phe1853Cys)
c.1412T>G (p.Phe471Cys)
c.815T>G (p.Phe272Cys)
19g.13231756A>GCA404334446CACNA1Ac.5354T>C (p.Phe1785Ser)
c.5360T>C (p.Phe1787Ser)
c.773T>C
n.578T>C
c.515T>C (p.Phe172Ser)
c.5357T>C (p.Phe1786Ser)
n.1343T>C
c.449T>C (p.Phe150Ser)
c.5363T>C (p.Phe1788Ser)
c.5372T>C (p.Phe1791Ser)
c.5216T>C (p.Phe1739Ser)
c.548T>C
n.747T>C
c.758T>C (p.Phe253Ser)
n.348T>C
c.5558T>C (p.Phe1853Ser)
c.1412T>C (p.Phe471Ser)
c.815T>C (p.Phe272Ser)
19g.13231756A>TCA404334449CACNA1Ac.5354T>A (p.Phe1785Tyr)
c.5360T>A (p.Phe1787Tyr)
c.773T>A
n.578T>A
c.515T>A (p.Phe172Tyr)
c.5357T>A (p.Phe1786Tyr)
n.1343T>A
c.449T>A (p.Phe150Tyr)
c.5363T>A (p.Phe1788Tyr)
c.5372T>A (p.Phe1791Tyr)
c.5216T>A (p.Phe1739Tyr)
c.548T>A
n.747T>A
c.758T>A (p.Phe253Tyr)
n.348T>A
c.5558T>A (p.Phe1853Tyr)
c.1412T>A (p.Phe471Tyr)
c.815T>A (p.Phe272Tyr)
19g.13231757A>CCA404334452CACNA1Ac.5353T>G (p.Phe1785Val)
c.5359T>G (p.Phe1787Val)
c.772T>G
n.577T>G
c.514T>G (p.Phe172Val)
c.5356T>G (p.Phe1786Val)
n.1342T>G
c.448T>G (p.Phe150Val)
c.5362T>G (p.Phe1788Val)
c.5371T>G (p.Phe1791Val)
c.5215T>G (p.Phe1739Val)
c.547T>G
n.746T>G
c.757T>G (p.Phe253Val)
n.347T>G
c.5557T>G (p.Phe1853Val)
c.1411T>G (p.Phe471Val)
c.814T>G (p.Phe272Val)
19g.13231757A>GCA404334453CACNA1Ac.5353T>C (p.Phe1785Leu)
c.5359T>C (p.Phe1787Leu)
c.772T>C
n.577T>C
c.514T>C (p.Phe172Leu)
c.5356T>C (p.Phe1786Leu)
n.1342T>C
c.448T>C (p.Phe150Leu)
c.5362T>C (p.Phe1788Leu)
c.5371T>C (p.Phe1791Leu)
c.5215T>C (p.Phe1739Leu)
c.547T>C
n.746T>C
c.757T>C (p.Phe253Leu)
n.347T>C
c.5557T>C (p.Phe1853Leu)
c.1411T>C (p.Phe471Leu)
c.814T>C (p.Phe272Leu)
 gnomAD v4
19g.13231757A>TCA404334455CACNA1Ac.5353T>A (p.Phe1785Ile)
c.5359T>A (p.Phe1787Ile)
c.772T>A
n.577T>A
c.514T>A (p.Phe172Ile)
c.5356T>A (p.Phe1786Ile)
n.1342T>A
c.448T>A (p.Phe150Ile)
c.5362T>A (p.Phe1788Ile)
c.5371T>A (p.Phe1791Ile)
c.5215T>A (p.Phe1739Ile)
c.547T>A
n.746T>A
c.757T>A (p.Phe253Ile)
n.347T>A
c.5557T>A (p.Phe1853Ile)
c.1411T>A (p.Phe471Ile)
c.814T>A (p.Phe272Ile)
19g.13231758T>ACA404334457CACNA1Ac.5352A>T (p.Glu1784Asp)
c.5358A>T (p.Glu1786Asp)
c.771A>T
n.576A>T
c.513A>T (p.Glu171Asp)
c.5355A>T (p.Glu1785Asp)
n.1341A>T
c.447A>T (p.Glu149Asp)
c.5361A>T (p.Glu1787Asp)
c.5370A>T (p.Glu1790Asp)
c.5214A>T (p.Glu1738Asp)
c.546A>T
n.745A>T
c.756A>T (p.Glu252Asp)
n.346A>T
c.5556A>T (p.Glu1852Asp)
c.1410A>T (p.Glu470Asp)
c.813A>T (p.Glu271Asp)
19g.13231758T>CCA505657128CACNA1Ac.5352A>G (p.Glu1784=)
c.5358A>G (p.Glu1786=)
c.771A>G
n.576A>G
c.513A>G (p.Glu171=)
c.5355A>G (p.Glu1785=)
n.1341A>G
c.447A>G (p.Glu149=)
c.5361A>G (p.Glu1787=)
c.5370A>G (p.Glu1790=)
c.5214A>G (p.Glu1738=)
c.546A>G
n.745A>G
c.756A>G (p.Glu252=)
n.346A>G
c.5556A>G (p.Glu1852=)
c.1410A>G (p.Glu470=)
c.813A>G (p.Glu271=)
19g.13231758T>GCA404334459CACNA1Ac.5352A>C (p.Glu1784Asp)
c.5358A>C (p.Glu1786Asp)
c.771A>C
n.576A>C
c.513A>C (p.Glu171Asp)
c.5355A>C (p.Glu1785Asp)
n.1341A>C
c.447A>C (p.Glu149Asp)
c.5361A>C (p.Glu1787Asp)
c.5370A>C (p.Glu1790Asp)
c.5214A>C (p.Glu1738Asp)
c.546A>C
n.745A>C
c.756A>C (p.Glu252Asp)
n.346A>C
c.5556A>C (p.Glu1852Asp)
c.1410A>C (p.Glu470Asp)
c.813A>C (p.Glu271Asp)
19g.13231759T>ACA404334461CACNA1Ac.5351A>T (p.Glu1784Val)
c.5357A>T (p.Glu1786Val)
c.770A>T
n.575A>T
c.512A>T (p.Glu171Val)
c.5354A>T (p.Glu1785Val)
n.1340A>T
c.446A>T (p.Glu149Val)
c.5360A>T (p.Glu1787Val)
c.5369A>T (p.Glu1790Val)
c.5213A>T (p.Glu1738Val)
c.545A>T
n.744A>T
c.755A>T (p.Glu252Val)
n.345A>T
c.5555A>T (p.Glu1852Val)
c.1409A>T (p.Glu470Val)
c.812A>T (p.Glu271Val)
19g.13231759T>CCA404334463CACNA1Ac.5351A>G (p.Glu1784Gly)
c.5357A>G (p.Glu1786Gly)
c.770A>G
n.575A>G
c.512A>G (p.Glu171Gly)
c.5354A>G (p.Glu1785Gly)
n.1340A>G
c.446A>G (p.Glu149Gly)
c.5360A>G (p.Glu1787Gly)
c.5369A>G (p.Glu1790Gly)
c.5213A>G (p.Glu1738Gly)
c.545A>G
n.744A>G
c.755A>G (p.Glu252Gly)
n.345A>G
c.5555A>G (p.Glu1852Gly)
c.1409A>G (p.Glu470Gly)
c.812A>G (p.Glu271Gly)
19g.13231759T>GCA404334465CACNA1Ac.5351A>C (p.Glu1784Ala)
c.5357A>C (p.Glu1786Ala)
c.770A>C
n.575A>C
c.512A>C (p.Glu171Ala)
c.5354A>C (p.Glu1785Ala)
n.1340A>C
c.446A>C (p.Glu149Ala)
c.5360A>C (p.Glu1787Ala)
c.5369A>C (p.Glu1790Ala)
c.5213A>C (p.Glu1738Ala)
c.545A>C
n.744A>C
c.755A>C (p.Glu252Ala)
n.345A>C
c.5555A>C (p.Glu1852Ala)
c.1409A>C (p.Glu470Ala)
c.812A>C (p.Glu271Ala)
19g.13231760C>ACA404334467CACNA1Ac.5350G>T (p.Glu1784Ter)
c.5356G>T (p.Glu1786Ter)
c.769G>T
n.574G>T
c.511G>T (p.Glu171Ter)
c.5353G>T (p.Glu1785Ter)
n.1339G>T
c.445G>T (p.Glu149Ter)
c.5359G>T (p.Glu1787Ter)
c.5368G>T (p.Glu1790Ter)
c.5212G>T (p.Glu1738Ter)
c.544G>T
n.743G>T
c.754G>T (p.Glu252Ter)
n.344G>T
c.5554G>T (p.Glu1852Ter)
c.1408G>T (p.Glu470Ter)
c.811G>T (p.Glu271Ter)
19g.13231760C>GCA404334469CACNA1Ac.5350G>C (p.Glu1784Gln)
c.5356G>C (p.Glu1786Gln)
c.769G>C
n.574G>C
c.511G>C (p.Glu171Gln)
c.5353G>C (p.Glu1785Gln)
n.1339G>C
c.445G>C (p.Glu149Gln)
c.5359G>C (p.Glu1787Gln)
c.5368G>C (p.Glu1790Gln)
c.5212G>C (p.Glu1738Gln)
c.544G>C
n.743G>C
c.754G>C (p.Glu252Gln)
n.344G>C
c.5554G>C (p.Glu1852Gln)
c.1408G>C (p.Glu470Gln)
c.811G>C (p.Glu271Gln)
19g.13231760C>TCA404334471CACNA1Ac.5350G>A (p.Glu1784Lys)
c.5356G>A (p.Glu1786Lys)
c.769G>A
n.574G>A
c.511G>A (p.Glu171Lys)
c.5353G>A (p.Glu1785Lys)
n.1339G>A
c.445G>A (p.Glu149Lys)
c.5359G>A (p.Glu1787Lys)
c.5368G>A (p.Glu1790Lys)
c.5212G>A (p.Glu1738Lys)
c.544G>A
n.743G>A
c.754G>A (p.Glu252Lys)
n.344G>A
c.5554G>A (p.Glu1852Lys)
c.1408G>A (p.Glu470Lys)
c.811G>A (p.Glu271Lys)
19g.13231761A>CCA404334475CACNA1Ac.5349T>G (p.Asn1783Lys)
c.5355T>G (p.Asn1785Lys)
c.768T>G
n.573T>G
c.510T>G (p.Asn170Lys)
c.5352T>G (p.Asn1784Lys)
n.1338T>G
c.444T>G (p.Asn148Lys)
c.5358T>G (p.Asn1786Lys)
c.5367T>G (p.Asn1789Lys)
c.5211T>G (p.Asn1737Lys)
c.543T>G
n.742T>G
c.753T>G (p.Asn251Lys)
n.343T>G
c.5553T>G (p.Asn1851Lys)
c.1407T>G (p.Asn469Lys)
c.810T>G (p.Asn270Lys)
19g.13231761A>GCA505657129CACNA1Ac.5349T>C (p.Asn1783=)
c.5355T>C (p.Asn1785=)
c.768T>C
n.573T>C
c.510T>C (p.Asn170=)
c.5352T>C (p.Asn1784=)
n.1338T>C
c.444T>C (p.Asn148=)
c.5358T>C (p.Asn1786=)
c.5367T>C (p.Asn1789=)
c.5211T>C (p.Asn1737=)
c.543T>C
n.742T>C
c.753T>C (p.Asn251=)
n.343T>C
c.5553T>C (p.Asn1851=)
c.1407T>C (p.Asn469=)
c.810T>C (p.Asn270=)
 gnomAD v4
19g.13231761A>TCA404334473CACNA1Ac.5349T>A (p.Asn1783Lys)
c.5355T>A (p.Asn1785Lys)
c.768T>A
n.573T>A
c.510T>A (p.Asn170Lys)
c.5352T>A (p.Asn1784Lys)
n.1338T>A
c.444T>A (p.Asn148Lys)
c.5358T>A (p.Asn1786Lys)
c.5367T>A (p.Asn1789Lys)
c.5211T>A (p.Asn1737Lys)
c.543T>A
n.742T>A
c.753T>A (p.Asn251Lys)
n.343T>A
c.5553T>A (p.Asn1851Lys)
c.1407T>A (p.Asn469Lys)
c.810T>A (p.Asn270Lys)
19g.13231762T>ACA404334477CACNA1Ac.5348A>T (p.Asn1783Ile)
c.5354A>T (p.Asn1785Ile)
c.767A>T
n.572A>T
c.509A>T (p.Asn170Ile)
c.5351A>T (p.Asn1784Ile)
n.1337A>T
c.443A>T (p.Asn148Ile)
c.5357A>T (p.Asn1786Ile)
c.5366A>T (p.Asn1789Ile)
c.5210A>T (p.Asn1737Ile)
c.542A>T
n.741A>T
c.752A>T (p.Asn251Ile)
n.342A>T
c.5552A>T (p.Asn1851Ile)
c.1406A>T (p.Asn469Ile)
c.809A>T (p.Asn270Ile)
19g.13231762T>CCA9239757CACNA1Ac.5348A>G (p.Asn1783Ser)
c.5354A>G (p.Asn1785Ser)
c.767A>G
n.572A>G
c.509A>G (p.Asn170Ser)
c.5351A>G (p.Asn1784Ser)
n.1337A>G
c.443A>G (p.Asn148Ser)
c.5357A>G (p.Asn1786Ser)
c.5366A>G (p.Asn1789Ser)
c.5210A>G (p.Asn1737Ser)
c.542A>G
n.741A>G
c.752A>G (p.Asn251Ser)
n.342A>G
c.5552A>G (p.Asn1851Ser)
c.1406A>G (p.Asn469Ser)
c.809A>G (p.Asn270Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13231762T>GCA404334480CACNA1Ac.5348A>C (p.Asn1783Thr)
c.5354A>C (p.Asn1785Thr)
c.767A>C
n.572A>C
c.509A>C (p.Asn170Thr)
c.5351A>C (p.Asn1784Thr)
n.1337A>C
c.443A>C (p.Asn148Thr)
c.5357A>C (p.Asn1786Thr)
c.5366A>C (p.Asn1789Thr)
c.5210A>C (p.Asn1737Thr)
c.542A>C
n.741A>C
c.752A>C (p.Asn251Thr)
n.342A>C
c.5552A>C (p.Asn1851Thr)
c.1406A>C (p.Asn469Thr)
c.809A>C (p.Asn270Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.13231762T=CA2323793791CACNA1Ac.5348A= (p.Asn1783=)
c.5354A= (p.Asn1785=)
c.767A=
n.572A=
c.509A= (p.Asn170=)
c.5351A= (p.Asn1784=)
n.1337A=
c.443A= (p.Asn148=)
c.5357A= (p.Asn1786=)
c.5366A= (p.Asn1789=)
c.5210A= (p.Asn1737=)
c.542A=
n.741A=
c.752A= (p.Asn251=)
n.342A=
c.5552A= (p.Asn1851=)
c.1406A= (p.Asn469=)
c.809A= (p.Asn270=)
19g.13231763T>ACA404334482CACNA1Ac.5347A>T (p.Asn1783Tyr)
c.5353A>T (p.Asn1785Tyr)
c.766A>T
n.571A>T
c.508A>T (p.Asn170Tyr)
c.5350A>T (p.Asn1784Tyr)
n.1336A>T
c.442A>T (p.Asn148Tyr)
c.5356A>T (p.Asn1786Tyr)
c.5365A>T (p.Asn1789Tyr)
c.5209A>T (p.Asn1737Tyr)
c.541A>T
n.740A>T
c.751A>T (p.Asn251Tyr)
n.341A>T
c.5551A>T (p.Asn1851Tyr)
c.1405A>T (p.Asn469Tyr)
c.808A>T (p.Asn270Tyr)
19g.13231763T>CCA404334484CACNA1Ac.5347A>G (p.Asn1783Asp)
c.5353A>G (p.Asn1785Asp)
c.766A>G
n.571A>G
c.508A>G (p.Asn170Asp)
c.5350A>G (p.Asn1784Asp)
n.1336A>G
c.442A>G (p.Asn148Asp)
c.5356A>G (p.Asn1786Asp)
c.5365A>G (p.Asn1789Asp)
c.5209A>G (p.Asn1737Asp)
c.541A>G
n.740A>G
c.751A>G (p.Asn251Asp)
n.341A>G
c.5551A>G (p.Asn1851Asp)
c.1405A>G (p.Asn469Asp)
c.808A>G (p.Asn270Asp)
 gnomAD v4
19g.13231763T>GCA404334486CACNA1Ac.5347A>C (p.Asn1783His)
c.5353A>C (p.Asn1785His)
c.766A>C
n.571A>C
c.508A>C (p.Asn170His)
c.5350A>C (p.Asn1784His)
n.1336A>C
c.442A>C (p.Asn148His)
c.5356A>C (p.Asn1786His)
c.5365A>C (p.Asn1789His)
c.5209A>C (p.Asn1737His)
c.541A>C
n.740A>C
c.751A>C (p.Asn251His)
n.341A>C
c.5551A>C (p.Asn1851His)
c.1405A>C (p.Asn469His)
c.808A>C (p.Asn270His)
19g.13231764G>ACA505657130CACNA1Ac.5346C>T (p.Gly1782=)
c.5352C>T (p.Gly1784=)
c.765C>T
n.570C>T
c.507C>T (p.Gly169=)
c.5349C>T (p.Gly1783=)
n.1335C>T
c.441C>T (p.Gly147=)
c.5355C>T (p.Gly1785=)
c.5364C>T (p.Gly1788=)
c.5208C>T (p.Gly1736=)
c.540C>T
n.739C>T
c.750C>T (p.Gly250=)
n.340C>T
c.5550C>T (p.Gly1850=)
c.1404C>T (p.Gly468=)
c.807C>T (p.Gly269=)
19g.13231764G>CCA505657131CACNA1Ac.5346C>G (p.Gly1782=)
c.5352C>G (p.Gly1784=)
c.765C>G
n.570C>G
c.507C>G (p.Gly169=)
c.5349C>G (p.Gly1783=)
n.1335C>G
c.441C>G (p.Gly147=)
c.5355C>G (p.Gly1785=)
c.5364C>G (p.Gly1788=)
c.5208C>G (p.Gly1736=)
c.540C>G
n.739C>G
c.750C>G (p.Gly250=)
n.340C>G
c.5550C>G (p.Gly1850=)
c.1404C>G (p.Gly468=)
c.807C>G (p.Gly269=)

Number of alleles fetched