Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13235616T>ACA404336529CACNA1Ac.5065A>T (p.Lys1689Ter)
c.5071A>T (p.Lys1691Ter)
c.484A>T
n.289A>T
c.226A>T (p.Lys76Ter)
n.270A>T
c.5068A>T (p.Lys1690Ter)
n.1054A>T
c.380A>T
c.5074A>T (p.Lys1692Ter)
c.361A>T (p.Lys121Ter)
c.5083A>T (p.Lys1695Ter)
c.4927A>T (p.Lys1643Ter)
c.325A>T
n.458A>T
c.469A>T (p.Lys157Ter)
n.59A>T
c.5269A>T (p.Lys1757Ter)
c.1123A>T (p.Lys375Ter)
c.526A>T (p.Lys176Ter)
19g.13235616T>CCA404336532CACNA1Ac.5065A>G (p.Lys1689Glu)
c.5071A>G (p.Lys1691Glu)
c.484A>G
n.289A>G
c.226A>G (p.Lys76Glu)
n.270A>G
c.5068A>G (p.Lys1690Glu)
n.1054A>G
c.380A>G
c.5074A>G (p.Lys1692Glu)
c.361A>G (p.Lys121Glu)
c.5083A>G (p.Lys1695Glu)
c.4927A>G (p.Lys1643Glu)
c.325A>G
n.458A>G
c.469A>G (p.Lys157Glu)
n.59A>G
c.5269A>G (p.Lys1757Glu)
c.1123A>G (p.Lys375Glu)
c.526A>G (p.Lys176Glu)
19g.13235616T>GCA404336534CACNA1Ac.5065A>C (p.Lys1689Gln)
c.5071A>C (p.Lys1691Gln)
c.484A>C
n.289A>C
c.226A>C (p.Lys76Gln)
n.270A>C
c.5068A>C (p.Lys1690Gln)
n.1054A>C
c.380A>C
c.5074A>C (p.Lys1692Gln)
c.361A>C (p.Lys121Gln)
c.5083A>C (p.Lys1695Gln)
c.4927A>C (p.Lys1643Gln)
c.325A>C
n.458A>C
c.469A>C (p.Lys157Gln)
n.59A>C
c.5269A>C (p.Lys1757Gln)
c.1123A>C (p.Lys375Gln)
c.526A>C (p.Lys176Gln)
19g.13235617G>ACA505658744CACNA1Ac.5064C>T (p.Phe1688=)
c.5070C>T (p.Phe1690=)
c.483C>T
n.288C>T
c.225C>T (p.Phe75=)
n.269C>T
c.5067C>T (p.Phe1689=)
n.1053C>T
c.379C>T
c.5073C>T (p.Phe1691=)
c.360C>T (p.Phe120=)
c.5082C>T (p.Phe1694=)
c.4926C>T (p.Phe1642=)
c.324C>T
n.457C>T
c.468C>T (p.Phe156=)
n.58C>T
c.5268C>T (p.Phe1756=)
c.1122C>T (p.Phe374=)
c.525C>T (p.Phe175=)
 gnomAD v4
19g.13235617G>CCA404336536CACNA1Ac.5064C>G (p.Phe1688Leu)
c.5070C>G (p.Phe1690Leu)
c.483C>G
n.288C>G
c.225C>G (p.Phe75Leu)
n.269C>G
c.5067C>G (p.Phe1689Leu)
n.1053C>G
c.379C>G
c.5073C>G (p.Phe1691Leu)
c.360C>G (p.Phe120Leu)
c.5082C>G (p.Phe1694Leu)
c.4926C>G (p.Phe1642Leu)
c.324C>G
n.457C>G
c.468C>G (p.Phe156Leu)
n.58C>G
c.5268C>G (p.Phe1756Leu)
c.1122C>G (p.Phe374Leu)
c.525C>G (p.Phe175Leu)
19g.13235617G>TCA404336538CACNA1Ac.5064C>A (p.Phe1688Leu)
c.5070C>A (p.Phe1690Leu)
c.483C>A
n.288C>A
c.225C>A (p.Phe75Leu)
n.269C>A
c.5067C>A (p.Phe1689Leu)
n.1053C>A
c.379C>A
c.5073C>A (p.Phe1691Leu)
c.360C>A (p.Phe120Leu)
c.5082C>A (p.Phe1694Leu)
c.4926C>A (p.Phe1642Leu)
c.324C>A
n.457C>A
c.468C>A (p.Phe156Leu)
n.58C>A
c.5268C>A (p.Phe1756Leu)
c.1122C>A (p.Phe374Leu)
c.525C>A (p.Phe175Leu)
19g.13235618A>CCA404336540CACNA1Ac.5063T>G (p.Phe1688Cys)
c.5069T>G (p.Phe1690Cys)
c.482T>G
n.287T>G
c.224T>G (p.Phe75Cys)
n.268T>G
c.5066T>G (p.Phe1689Cys)
n.1052T>G
c.378T>G
c.5072T>G (p.Phe1691Cys)
c.359T>G (p.Phe120Cys)
c.5081T>G (p.Phe1694Cys)
c.4925T>G (p.Phe1642Cys)
c.323T>G
n.456T>G
c.467T>G (p.Phe156Cys)
n.57T>G
c.5267T>G (p.Phe1756Cys)
c.1121T>G (p.Phe374Cys)
c.524T>G (p.Phe175Cys)
19g.13235618A>GCA404336542CACNA1Ac.5063T>C (p.Phe1688Ser)
c.5069T>C (p.Phe1690Ser)
c.482T>C
n.287T>C
c.224T>C (p.Phe75Ser)
n.268T>C
c.5066T>C (p.Phe1689Ser)
n.1052T>C
c.378T>C
c.5072T>C (p.Phe1691Ser)
c.359T>C (p.Phe120Ser)
c.5081T>C (p.Phe1694Ser)
c.4925T>C (p.Phe1642Ser)
c.323T>C
n.456T>C
c.467T>C (p.Phe156Ser)
n.57T>C
c.5267T>C (p.Phe1756Ser)
c.1121T>C (p.Phe374Ser)
c.524T>C (p.Phe175Ser)
19g.13235618A>TCA404336543CACNA1Ac.5063T>A (p.Phe1688Tyr)
c.5069T>A (p.Phe1690Tyr)
c.482T>A
n.287T>A
c.224T>A (p.Phe75Tyr)
n.268T>A
c.5066T>A (p.Phe1689Tyr)
n.1052T>A
c.378T>A
c.5072T>A (p.Phe1691Tyr)
c.359T>A (p.Phe120Tyr)
c.5081T>A (p.Phe1694Tyr)
c.4925T>A (p.Phe1642Tyr)
c.323T>A
n.456T>A
c.467T>A (p.Phe156Tyr)
n.57T>A
c.5267T>A (p.Phe1756Tyr)
c.1121T>A (p.Phe374Tyr)
c.524T>A (p.Phe175Tyr)
19g.13235619A>CCA404336544CACNA1Ac.5062T>G (p.Phe1688Val)
c.5068T>G (p.Phe1690Val)
c.481T>G
n.286T>G
c.223T>G (p.Phe75Val)
n.267T>G
c.5065T>G (p.Phe1689Val)
n.1051T>G
c.377T>G
c.5071T>G (p.Phe1691Val)
c.358T>G (p.Phe120Val)
c.5080T>G (p.Phe1694Val)
c.4924T>G (p.Phe1642Val)
c.322T>G
n.455T>G
c.466T>G (p.Phe156Val)
n.56T>G
c.5266T>G (p.Phe1756Val)
c.1120T>G (p.Phe374Val)
c.523T>G (p.Phe175Val)
19g.13235619A>GCA404336545CACNA1Ac.5062T>C (p.Phe1688Leu)
c.5068T>C (p.Phe1690Leu)
c.481T>C
n.286T>C
c.223T>C (p.Phe75Leu)
n.267T>C
c.5065T>C (p.Phe1689Leu)
n.1051T>C
c.377T>C
c.5071T>C (p.Phe1691Leu)
c.358T>C (p.Phe120Leu)
c.5080T>C (p.Phe1694Leu)
c.4924T>C (p.Phe1642Leu)
c.322T>C
n.455T>C
c.466T>C (p.Phe156Leu)
n.56T>C
c.5266T>C (p.Phe1756Leu)
c.1120T>C (p.Phe374Leu)
c.523T>C (p.Phe175Leu)
19g.13235619A>TCA404336547CACNA1Ac.5062T>A (p.Phe1688Ile)
c.5068T>A (p.Phe1690Ile)
c.481T>A
n.286T>A
c.223T>A (p.Phe75Ile)
n.267T>A
c.5065T>A (p.Phe1689Ile)
n.1051T>A
c.377T>A
c.5071T>A (p.Phe1691Ile)
c.358T>A (p.Phe120Ile)
c.5080T>A (p.Phe1694Ile)
c.4924T>A (p.Phe1642Ile)
c.322T>A
n.455T>A
c.466T>A (p.Phe156Ile)
n.56T>A
c.5266T>A (p.Phe1756Ile)
c.1120T>A (p.Phe374Ile)
c.523T>A (p.Phe175Ile)
19g.13235620G>ACA9239854CACNA1Ac.5061C>T (p.Ser1687=)
c.5067C>T (p.Ser1689=)
c.480C>T
n.285C>T
c.222C>T (p.Ser74=)
n.266C>T
c.5064C>T (p.Ser1688=)
n.1050C>T
c.376C>T
c.5070C>T (p.Ser1690=)
c.357C>T (p.Ser119=)
c.5079C>T (p.Ser1693=)
c.4923C>T (p.Ser1641=)
c.321C>T
n.454C>T
c.465C>T (p.Ser155=)
n.55C>T
c.5265C>T (p.Ser1755=)
c.1119C>T (p.Ser373=)
c.522C>T (p.Ser174=)
 dbSNP ExAC gnomAD v4
19g.13235620G>CCA505658745CACNA1Ac.5061C>G (p.Ser1687=)
c.5067C>G (p.Ser1689=)
c.480C>G
n.285C>G
c.222C>G (p.Ser74=)
n.266C>G
c.5064C>G (p.Ser1688=)
n.1050C>G
c.376C>G
c.5070C>G (p.Ser1690=)
c.357C>G (p.Ser119=)
c.5079C>G (p.Ser1693=)
c.4923C>G (p.Ser1641=)
c.321C>G
n.454C>G
c.465C>G (p.Ser155=)
n.55C>G
c.5265C>G (p.Ser1755=)
c.1119C>G (p.Ser373=)
c.522C>G (p.Ser174=)
19g.13235620G=CA2323795757CACNA1Ac.5061C= (p.Ser1687=)
c.5067C= (p.Ser1689=)
c.480C=
n.285C=
c.222C= (p.Ser74=)
n.266C=
c.5064C= (p.Ser1688=)
n.1050C=
c.376C=
c.5070C= (p.Ser1690=)
c.357C= (p.Ser119=)
c.5079C= (p.Ser1693=)
c.4923C= (p.Ser1641=)
c.321C=
n.454C=
c.465C= (p.Ser155=)
n.55C=
c.5265C= (p.Ser1755=)
c.1119C= (p.Ser373=)
c.522C= (p.Ser174=)
19g.13235620G>TCA505658746CACNA1Ac.5061C>A (p.Ser1687=)
c.5067C>A (p.Ser1689=)
c.480C>A
n.285C>A
c.222C>A (p.Ser74=)
n.266C>A
c.5064C>A (p.Ser1688=)
n.1050C>A
c.376C>A
c.5070C>A (p.Ser1690=)
c.357C>A (p.Ser119=)
c.5079C>A (p.Ser1693=)
c.4923C>A (p.Ser1641=)
c.321C>A
n.454C>A
c.465C>A (p.Ser155=)
n.55C>A
c.5265C>A (p.Ser1755=)
c.1119C>A (p.Ser373=)
c.522C>A (p.Ser174=)
19g.13235621G>ACA404336552CACNA1Ac.5060C>T (p.Ser1687Phe)
c.5066C>T (p.Ser1689Phe)
c.479C>T
n.284C>T
c.221C>T (p.Ser74Phe)
n.265C>T
c.5063C>T (p.Ser1688Phe)
n.1049C>T
c.375C>T
c.5069C>T (p.Ser1690Phe)
c.356C>T (p.Ser119Phe)
c.5078C>T (p.Ser1693Phe)
c.4922C>T (p.Ser1641Phe)
c.320C>T
n.453C>T
c.464C>T (p.Ser155Phe)
n.54C>T
c.5264C>T (p.Ser1755Phe)
c.1118C>T (p.Ser373Phe)
c.521C>T (p.Ser174Phe)
 ClinVar dbSNP
19g.13235621G>CCA404336555CACNA1Ac.5060C>G (p.Ser1687Cys)
c.5066C>G (p.Ser1689Cys)
c.479C>G
n.284C>G
c.221C>G (p.Ser74Cys)
n.265C>G
c.5063C>G (p.Ser1688Cys)
n.1049C>G
c.375C>G
c.5069C>G (p.Ser1690Cys)
c.356C>G (p.Ser119Cys)
c.5078C>G (p.Ser1693Cys)
c.4922C>G (p.Ser1641Cys)
c.320C>G
n.453C>G
c.464C>G (p.Ser155Cys)
n.54C>G
c.5264C>G (p.Ser1755Cys)
c.1118C>G (p.Ser373Cys)
c.521C>G (p.Ser174Cys)
 gnomAD v4
19g.13235621G=CA2323795758CACNA1Ac.5060C= (p.Ser1687=)
c.5066C= (p.Ser1689=)
c.479C=
n.284C=
c.221C= (p.Ser74=)
n.265C=
c.5063C= (p.Ser1688=)
n.1049C=
c.375C=
c.5069C= (p.Ser1690=)
c.356C= (p.Ser119=)
c.5078C= (p.Ser1693=)
c.4922C= (p.Ser1641=)
c.320C=
n.453C=
c.464C= (p.Ser155=)
n.54C=
c.5264C= (p.Ser1755=)
c.1118C= (p.Ser373=)
c.521C= (p.Ser174=)
19g.13235621G>TCA404336550CACNA1Ac.5060C>A (p.Ser1687Tyr)
c.5066C>A (p.Ser1689Tyr)
c.479C>A
n.284C>A
c.221C>A (p.Ser74Tyr)
n.265C>A
c.5063C>A (p.Ser1688Tyr)
n.1049C>A
c.375C>A
c.5069C>A (p.Ser1690Tyr)
c.356C>A (p.Ser119Tyr)
c.5078C>A (p.Ser1693Tyr)
c.4922C>A (p.Ser1641Tyr)
c.320C>A
n.453C>A
c.464C>A (p.Ser155Tyr)
n.54C>A
c.5264C>A (p.Ser1755Tyr)
c.1118C>A (p.Ser373Tyr)
c.521C>A (p.Ser174Tyr)
19g.13235622A>CCA404336557CACNA1Ac.5059T>G (p.Ser1687Ala)
c.5065T>G (p.Ser1689Ala)
c.478T>G
n.283T>G
c.220T>G (p.Ser74Ala)
n.264T>G
c.5062T>G (p.Ser1688Ala)
n.1048T>G
c.374T>G
c.5068T>G (p.Ser1690Ala)
c.355T>G (p.Ser119Ala)
c.5077T>G (p.Ser1693Ala)
c.4921T>G (p.Ser1641Ala)
c.319T>G
n.452T>G
c.463T>G (p.Ser155Ala)
n.53T>G
c.5263T>G (p.Ser1755Ala)
c.1117T>G (p.Ser373Ala)
c.520T>G (p.Ser174Ala)
19g.13235622A>GCA404336559CACNA1Ac.5059T>C (p.Ser1687Pro)
c.5065T>C (p.Ser1689Pro)
c.478T>C
n.283T>C
c.220T>C (p.Ser74Pro)
n.264T>C
c.5062T>C (p.Ser1688Pro)
n.1048T>C
c.374T>C
c.5068T>C (p.Ser1690Pro)
c.355T>C (p.Ser119Pro)
c.5077T>C (p.Ser1693Pro)
c.4921T>C (p.Ser1641Pro)
c.319T>C
n.452T>C
c.463T>C (p.Ser155Pro)
n.53T>C
c.5263T>C (p.Ser1755Pro)
c.1117T>C (p.Ser373Pro)
c.520T>C (p.Ser174Pro)
19g.13235622A>TCA404336562CACNA1Ac.5059T>A (p.Ser1687Thr)
c.5065T>A (p.Ser1689Thr)
c.478T>A
n.283T>A
c.220T>A (p.Ser74Thr)
n.264T>A
c.5062T>A (p.Ser1688Thr)
n.1048T>A
c.374T>A
c.5068T>A (p.Ser1690Thr)
c.355T>A (p.Ser119Thr)
c.5077T>A (p.Ser1693Thr)
c.4921T>A (p.Ser1641Thr)
c.319T>A
n.452T>A
c.463T>A (p.Ser155Thr)
n.53T>A
c.5263T>A (p.Ser1755Thr)
c.1117T>A (p.Ser373Thr)
c.520T>A (p.Ser174Thr)
19g.13235623C>ACA404336564CACNA1Ac.5058G>T (p.Gln1686His)
c.5064G>T (p.Gln1688His)
c.477G>T
n.282G>T
c.219G>T (p.Gln73His)
n.263G>T
c.5061G>T (p.Gln1687His)
n.1047G>T
c.373G>T
c.5067G>T (p.Gln1689His)
c.354G>T (p.Gln118His)
c.5076G>T (p.Gln1692His)
c.4920G>T (p.Gln1640His)
c.318G>T
n.451G>T
c.462G>T (p.Gln154His)
n.52G>T
c.5262G>T (p.Gln1754His)
c.1116G>T (p.Gln372His)
c.519G>T (p.Gln173His)
19g.13235623C>GCA404336566CACNA1Ac.5058G>C (p.Gln1686His)
c.5064G>C (p.Gln1688His)
c.477G>C
n.282G>C
c.219G>C (p.Gln73His)
n.263G>C
c.5061G>C (p.Gln1687His)
n.1047G>C
c.373G>C
c.5067G>C (p.Gln1689His)
c.354G>C (p.Gln118His)
c.5076G>C (p.Gln1692His)
c.4920G>C (p.Gln1640His)
c.318G>C
n.451G>C
c.462G>C (p.Gln154His)
n.52G>C
c.5262G>C (p.Gln1754His)
c.1116G>C (p.Gln372His)
c.519G>C (p.Gln173His)
 ClinVar
19g.13235623C>TCA505658747CACNA1Ac.5058G>A (p.Gln1686=)
c.5064G>A (p.Gln1688=)
c.477G>A
n.282G>A
c.219G>A (p.Gln73=)
n.263G>A
c.5061G>A (p.Gln1687=)
n.1047G>A
c.373G>A
c.5067G>A (p.Gln1689=)
c.354G>A (p.Gln118=)
c.5076G>A (p.Gln1692=)
c.4920G>A (p.Gln1640=)
c.318G>A
n.451G>A
c.462G>A (p.Gln154=)
n.52G>A
c.5262G>A (p.Gln1754=)
c.1116G>A (p.Gln372=)
c.519G>A (p.Gln173=)
 dbSNP
19g.13235624T>ACA404336574CACNA1Ac.5057A>T (p.Gln1686Leu)
c.5063A>T (p.Gln1688Leu)
c.476A>T
n.281A>T
c.218A>T (p.Gln73Leu)
n.262A>T
c.5060A>T (p.Gln1687Leu)
n.1046A>T
c.372A>T
c.5066A>T (p.Gln1689Leu)
c.353A>T (p.Gln118Leu)
c.5075A>T (p.Gln1692Leu)
c.4919A>T (p.Gln1640Leu)
c.317A>T
n.450A>T
c.461A>T (p.Gln154Leu)
n.51A>T
c.5261A>T (p.Gln1754Leu)
c.1115A>T (p.Gln372Leu)
c.518A>T (p.Gln173Leu)
19g.13235624T>CCA404336567CACNA1Ac.5057A>G (p.Gln1686Arg)
c.5063A>G (p.Gln1688Arg)
c.476A>G
n.281A>G
c.218A>G (p.Gln73Arg)
n.262A>G
c.5060A>G (p.Gln1687Arg)
n.1046A>G
c.372A>G
c.5066A>G (p.Gln1689Arg)
c.353A>G (p.Gln118Arg)
c.5075A>G (p.Gln1692Arg)
c.4919A>G (p.Gln1640Arg)
c.317A>G
n.450A>G
c.461A>G (p.Gln154Arg)
n.51A>G
c.5261A>G (p.Gln1754Arg)
c.1115A>G (p.Gln372Arg)
c.518A>G (p.Gln173Arg)
 ClinVar dbSNP
19g.13235624T>GCA404336568CACNA1Ac.5057A>C (p.Gln1686Pro)
c.5063A>C (p.Gln1688Pro)
c.476A>C
n.281A>C
c.218A>C (p.Gln73Pro)
n.262A>C
c.5060A>C (p.Gln1687Pro)
n.1046A>C
c.372A>C
c.5066A>C (p.Gln1689Pro)
c.353A>C (p.Gln118Pro)
c.5075A>C (p.Gln1692Pro)
c.4919A>C (p.Gln1640Pro)
c.317A>C
n.450A>C
c.461A>C (p.Gln154Pro)
n.51A>C
c.5261A>C (p.Gln1754Pro)
c.1115A>C (p.Gln372Pro)
c.518A>C (p.Gln173Pro)
19g.13235624T=CA2323795759CACNA1Ac.5057A= (p.Gln1686=)
c.5063A= (p.Gln1688=)
c.476A=
n.281A=
c.218A= (p.Gln73=)
n.262A=
c.5060A= (p.Gln1687=)
n.1046A=
c.372A=
c.5066A= (p.Gln1689=)
c.353A= (p.Gln118=)
c.5075A= (p.Gln1692=)
c.4919A= (p.Gln1640=)
c.317A=
n.450A=
c.461A= (p.Gln154=)
n.51A=
c.5261A= (p.Gln1754=)
c.1115A= (p.Gln372=)
c.518A= (p.Gln173=)
19g.13235625delCA2576642015CACNA1Ac.5056del (p.Gln1686SerfsTer12)
c.5062del (p.Gln1688SerfsTer12)
c.475del
n.280del
c.217del (p.Gln73SerfsTer12)
n.261del
c.5059del (p.Gln1687SerfsTer12)
n.1045del
c.371del
c.217del (p.Gln73SerfsTer?)
c.5065del (p.Gln1689SerfsTer12)
c.352del (p.Gln118SerfsTer12)
c.5074del (p.Gln1692SerfsTer12)
c.4918del (p.Gln1640SerfsTer12)
c.316del
n.449del
c.460del (p.Gln154SerfsTer12)
n.50del
c.5260del (p.Gln1754SerfsTer12)
c.1114del (p.Gln372SerfsTer12)
c.517del (p.Gln173SerfsTer12)
19g.13235625G>ACA404336577CACNA1Ac.5056C>T (p.Gln1686Ter)
c.5062C>T (p.Gln1688Ter)
c.475C>T
n.280C>T
c.217C>T (p.Gln73Ter)
n.261C>T
c.5059C>T (p.Gln1687Ter)
n.1045C>T
c.371C>T
c.5065C>T (p.Gln1689Ter)
c.352C>T (p.Gln118Ter)
c.5074C>T (p.Gln1692Ter)
c.4918C>T (p.Gln1640Ter)
c.316C>T
n.449C>T
c.460C>T (p.Gln154Ter)
n.50C>T
c.5260C>T (p.Gln1754Ter)
c.1114C>T (p.Gln372Ter)
c.517C>T (p.Gln173Ter)
 ClinVar dbSNP gnomAD v4
19g.13235625G>CCA404336579CACNA1Ac.5056C>G (p.Gln1686Glu)
c.5062C>G (p.Gln1688Glu)
c.475C>G
n.280C>G
c.217C>G (p.Gln73Glu)
n.261C>G
c.5059C>G (p.Gln1687Glu)
n.1045C>G
c.371C>G
c.5065C>G (p.Gln1689Glu)
c.352C>G (p.Gln118Glu)
c.5074C>G (p.Gln1692Glu)
c.4918C>G (p.Gln1640Glu)
c.316C>G
n.449C>G
c.460C>G (p.Gln154Glu)
n.50C>G
c.5260C>G (p.Gln1754Glu)
c.1114C>G (p.Gln372Glu)
c.517C>G (p.Gln173Glu)
19g.13235625G=CA2323795760CACNA1Ac.5056C= (p.Gln1686=)
c.5062C= (p.Gln1688=)
c.475C=
n.280C=
c.217C= (p.Gln73=)
n.261C=
c.5059C= (p.Gln1687=)
n.1045C=
c.371C=
c.5065C= (p.Gln1689=)
c.352C= (p.Gln118=)
c.5074C= (p.Gln1692=)
c.4918C= (p.Gln1640=)
c.316C=
n.449C=
c.460C= (p.Gln154=)
n.50C=
c.5260C= (p.Gln1754=)
c.1114C= (p.Gln372=)
c.517C= (p.Gln173=)
19g.13235625G>TCA404336581CACNA1Ac.5056C>A (p.Gln1686Lys)
c.5062C>A (p.Gln1688Lys)
c.475C>A
n.280C>A
c.217C>A (p.Gln73Lys)
n.261C>A
c.5059C>A (p.Gln1687Lys)
n.1045C>A
c.371C>A
c.5065C>A (p.Gln1689Lys)
c.352C>A (p.Gln118Lys)
c.5074C>A (p.Gln1692Lys)
c.4918C>A (p.Gln1640Lys)
c.316C>A
n.449C>A
c.460C>A (p.Gln154Lys)
n.50C>A
c.5260C>A (p.Gln1754Lys)
c.1114C>A (p.Gln372Lys)
c.517C>A (p.Gln173Lys)
19g.13235626C>ACA505658748CACNA1Ac.5055G>T (p.Val1685=)
c.5061G>T (p.Val1687=)
c.474G>T
n.279G>T
c.216G>T (p.Val72=)
n.260G>T
c.5058G>T (p.Val1686=)
n.1044G>T
c.370G>T
c.5064G>T (p.Val1688=)
c.351G>T (p.Val117=)
c.5073G>T (p.Val1691=)
c.4917G>T (p.Val1639=)
c.315G>T
n.448G>T
c.459G>T (p.Val153=)
n.49G>T
c.5259G>T (p.Val1753=)
c.1113G>T (p.Val371=)
c.516G>T (p.Val172=)
19g.13235626C=CA2323795761CACNA1Ac.5055G= (p.Val1685=)
c.5061G= (p.Val1687=)
c.474G=
n.279G=
c.216G= (p.Val72=)
n.260G=
c.5058G= (p.Val1686=)
n.1044G=
c.370G=
c.5064G= (p.Val1688=)
c.351G= (p.Val117=)
c.5073G= (p.Val1691=)
c.4917G= (p.Val1639=)
c.315G=
n.448G=
c.459G= (p.Val153=)
n.49G=
c.5259G= (p.Val1753=)
c.1113G= (p.Val371=)
c.516G= (p.Val172=)
19g.13235626C>GCA505658749CACNA1Ac.5055G>C (p.Val1685=)
c.5061G>C (p.Val1687=)
c.474G>C
n.279G>C
c.216G>C (p.Val72=)
n.260G>C
c.5058G>C (p.Val1686=)
n.1044G>C
c.370G>C
c.5064G>C (p.Val1688=)
c.351G>C (p.Val117=)
c.5073G>C (p.Val1691=)
c.4917G>C (p.Val1639=)
c.315G>C
n.448G>C
c.459G>C (p.Val153=)
n.49G>C
c.5259G>C (p.Val1753=)
c.1113G>C (p.Val371=)
c.516G>C (p.Val172=)
19g.13235626C>TCA505658750CACNA1Ac.5055G>A (p.Val1685=)
c.5061G>A (p.Val1687=)
c.474G>A
n.279G>A
c.216G>A (p.Val72=)
n.260G>A
c.5058G>A (p.Val1686=)
n.1044G>A
c.370G>A
c.5064G>A (p.Val1688=)
c.351G>A (p.Val117=)
c.5073G>A (p.Val1691=)
c.4917G>A (p.Val1639=)
c.315G>A
n.448G>A
c.459G>A (p.Val153=)
n.49G>A
c.5259G>A (p.Val1753=)
c.1113G>A (p.Val371=)
c.516G>A (p.Val172=)
 dbSNP
19g.13235627A>CCA404336583CACNA1Ac.5054T>G (p.Val1685Gly)
c.5060T>G (p.Val1687Gly)
c.473T>G
n.278T>G
c.215T>G (p.Val72Gly)
n.259T>G
c.5057T>G (p.Val1686Gly)
n.1043T>G
c.369T>G
c.5063T>G (p.Val1688Gly)
c.350T>G (p.Val117Gly)
c.5072T>G (p.Val1691Gly)
c.4916T>G (p.Val1639Gly)
c.314T>G
n.447T>G
c.458T>G (p.Val153Gly)
n.48T>G
c.5258T>G (p.Val1753Gly)
c.1112T>G (p.Val371Gly)
c.515T>G (p.Val172Gly)
19g.13235627A>GCA404336585CACNA1Ac.5054T>C (p.Val1685Ala)
c.5060T>C (p.Val1687Ala)
c.473T>C
n.278T>C
c.215T>C (p.Val72Ala)
n.259T>C
c.5057T>C (p.Val1686Ala)
n.1043T>C
c.369T>C
c.5063T>C (p.Val1688Ala)
c.350T>C (p.Val117Ala)
c.5072T>C (p.Val1691Ala)
c.4916T>C (p.Val1639Ala)
c.314T>C
n.447T>C
c.458T>C (p.Val153Ala)
n.48T>C
c.5258T>C (p.Val1753Ala)
c.1112T>C (p.Val371Ala)
c.515T>C (p.Val172Ala)
19g.13235627A>TCA404336587CACNA1Ac.5054T>A (p.Val1685Glu)
c.5060T>A (p.Val1687Glu)
c.473T>A
n.278T>A
c.215T>A (p.Val72Glu)
n.259T>A
c.5057T>A (p.Val1686Glu)
n.1043T>A
c.369T>A
c.5063T>A (p.Val1688Glu)
c.350T>A (p.Val117Glu)
c.5072T>A (p.Val1691Glu)
c.4916T>A (p.Val1639Glu)
c.314T>A
n.447T>A
c.458T>A (p.Val153Glu)
n.48T>A
c.5258T>A (p.Val1753Glu)
c.1112T>A (p.Val371Glu)
c.515T>A (p.Val172Glu)
19g.13235628C>ACA404336590CACNA1Ac.5053G>T (p.Val1685Leu)
c.5059G>T (p.Val1687Leu)
c.472G>T
n.277G>T
c.214G>T (p.Val72Leu)
n.258G>T
c.5056G>T (p.Val1686Leu)
n.1042G>T
c.368G>T
c.5062G>T (p.Val1688Leu)
c.349G>T (p.Val117Leu)
c.5071G>T (p.Val1691Leu)
c.4915G>T (p.Val1639Leu)
c.313G>T
n.446G>T
c.457G>T (p.Val153Leu)
n.47G>T
c.5257G>T (p.Val1753Leu)
c.1111G>T (p.Val371Leu)
c.514G>T (p.Val172Leu)
19g.13235628C=CA2323795762CACNA1Ac.5053G= (p.Val1685=)
c.5059G= (p.Val1687=)
c.472G=
n.277G=
c.214G= (p.Val72=)
n.258G=
c.5056G= (p.Val1686=)
n.1042G=
c.368G=
c.5062G= (p.Val1688=)
c.349G= (p.Val117=)
c.5071G= (p.Val1691=)
c.4915G= (p.Val1639=)
c.313G=
n.446G=
c.457G= (p.Val153=)
n.47G=
c.5257G= (p.Val1753=)
c.1111G= (p.Val371=)
c.514G= (p.Val172=)
19g.13235628C>GCA404336592CACNA1Ac.5053G>C (p.Val1685Leu)
c.5059G>C (p.Val1687Leu)
c.472G>C
n.277G>C
c.214G>C (p.Val72Leu)
n.258G>C
c.5056G>C (p.Val1686Leu)
n.1042G>C
c.368G>C
c.5062G>C (p.Val1688Leu)
c.349G>C (p.Val117Leu)
c.5071G>C (p.Val1691Leu)
c.4915G>C (p.Val1639Leu)
c.313G>C
n.446G>C
c.457G>C (p.Val153Leu)
n.47G>C
c.5257G>C (p.Val1753Leu)
c.1111G>C (p.Val371Leu)
c.514G>C (p.Val172Leu)
19g.13235628C>TCA404336589CACNA1Ac.5053G>A (p.Val1685Met)
c.5059G>A (p.Val1687Met)
c.472G>A
n.277G>A
c.214G>A (p.Val72Met)
n.258G>A
c.5056G>A (p.Val1686Met)
n.1042G>A
c.368G>A
c.5062G>A (p.Val1688Met)
c.349G>A (p.Val117Met)
c.5071G>A (p.Val1691Met)
c.4915G>A (p.Val1639Met)
c.313G>A
n.446G>A
c.457G>A (p.Val153Met)
n.47G>A
c.5257G>A (p.Val1753Met)
c.1111G>A (p.Val371Met)
c.514G>A (p.Val172Met)
 ClinVar dbSNP
19g.13235629A=CA2323795763CACNA1Ac.5052T= (p.Phe1684=)
c.5058T= (p.Phe1686=)
c.471T=
n.276T=
c.213T= (p.Phe71=)
n.257T=
c.5055T= (p.Phe1685=)
n.1041T=
c.367T=
c.5061T= (p.Phe1687=)
c.348T= (p.Phe116=)
c.5070T= (p.Phe1690=)
c.4914T= (p.Phe1638=)
c.312T=
n.445T=
c.456T= (p.Phe152=)
n.46T=
c.5256T= (p.Phe1752=)
c.1110T= (p.Phe370=)
c.513T= (p.Phe171=)
19g.13235629A>CCA404336596CACNA1Ac.5052T>G (p.Phe1684Leu)
c.5058T>G (p.Phe1686Leu)
c.471T>G
n.276T>G
c.213T>G (p.Phe71Leu)
n.257T>G
c.5055T>G (p.Phe1685Leu)
n.1041T>G
c.367T>G
c.5061T>G (p.Phe1687Leu)
c.348T>G (p.Phe116Leu)
c.5070T>G (p.Phe1690Leu)
c.4914T>G (p.Phe1638Leu)
c.312T>G
n.445T>G
c.456T>G (p.Phe152Leu)
n.46T>G
c.5256T>G (p.Phe1752Leu)
c.1110T>G (p.Phe370Leu)
c.513T>G (p.Phe171Leu)
19g.13235629A>GCA505658751CACNA1Ac.5052T>C (p.Phe1684=)
c.5058T>C (p.Phe1686=)
c.471T>C
n.276T>C
c.213T>C (p.Phe71=)
n.257T>C
c.5055T>C (p.Phe1685=)
n.1041T>C
c.367T>C
c.5061T>C (p.Phe1687=)
c.348T>C (p.Phe116=)
c.5070T>C (p.Phe1690=)
c.4914T>C (p.Phe1638=)
c.312T>C
n.445T>C
c.456T>C (p.Phe152=)
n.46T>C
c.5256T>C (p.Phe1752=)
c.1110T>C (p.Phe370=)
c.513T>C (p.Phe171=)
 dbSNP gnomAD v3 gnomAD v4
19g.13235629A>TCA404336594CACNA1Ac.5052T>A (p.Phe1684Leu)
c.5058T>A (p.Phe1686Leu)
c.471T>A
n.276T>A
c.213T>A (p.Phe71Leu)
n.257T>A
c.5055T>A (p.Phe1685Leu)
n.1041T>A
c.367T>A
c.5061T>A (p.Phe1687Leu)
c.348T>A (p.Phe116Leu)
c.5070T>A (p.Phe1690Leu)
c.4914T>A (p.Phe1638Leu)
c.312T>A
n.445T>A
c.456T>A (p.Phe152Leu)
n.46T>A
c.5256T>A (p.Phe1752Leu)
c.1110T>A (p.Phe370Leu)
c.513T>A (p.Phe171Leu)
19g.13235630A>CCA404336602CACNA1Ac.5051T>G (p.Phe1684Cys)
c.5057T>G (p.Phe1686Cys)
c.470T>G
n.275T>G
c.212T>G (p.Phe71Cys)
n.256T>G
c.5054T>G (p.Phe1685Cys)
n.1040T>G
c.366T>G
c.5060T>G (p.Phe1687Cys)
c.347T>G (p.Phe116Cys)
c.5069T>G (p.Phe1690Cys)
c.4913T>G (p.Phe1638Cys)
c.311T>G
n.444T>G
c.455T>G (p.Phe152Cys)
n.45T>G
c.5255T>G (p.Phe1752Cys)
c.1109T>G (p.Phe370Cys)
c.512T>G (p.Phe171Cys)
19g.13235630A>GCA404336598CACNA1Ac.5051T>C (p.Phe1684Ser)
c.5057T>C (p.Phe1686Ser)
c.470T>C
n.275T>C
c.212T>C (p.Phe71Ser)
n.256T>C
c.5054T>C (p.Phe1685Ser)
n.1040T>C
c.366T>C
c.5060T>C (p.Phe1687Ser)
c.347T>C (p.Phe116Ser)
c.5069T>C (p.Phe1690Ser)
c.4913T>C (p.Phe1638Ser)
c.311T>C
n.444T>C
c.455T>C (p.Phe152Ser)
n.45T>C
c.5255T>C (p.Phe1752Ser)
c.1109T>C (p.Phe370Ser)
c.512T>C (p.Phe171Ser)
 ClinVar
19g.13235630A>TCA404336600CACNA1Ac.5051T>A (p.Phe1684Tyr)
c.5057T>A (p.Phe1686Tyr)
c.470T>A
n.275T>A
c.212T>A (p.Phe71Tyr)
n.256T>A
c.5054T>A (p.Phe1685Tyr)
n.1040T>A
c.366T>A
c.5060T>A (p.Phe1687Tyr)
c.347T>A (p.Phe116Tyr)
c.5069T>A (p.Phe1690Tyr)
c.4913T>A (p.Phe1638Tyr)
c.311T>A
n.444T>A
c.455T>A (p.Phe152Tyr)
n.45T>A
c.5255T>A (p.Phe1752Tyr)
c.1109T>A (p.Phe370Tyr)
c.512T>A (p.Phe171Tyr)
19g.13235631A>CCA404336604CACNA1Ac.5050T>G (p.Phe1684Val)
c.5056T>G (p.Phe1686Val)
c.469T>G
n.274T>G
c.211T>G (p.Phe71Val)
n.255T>G
c.5053T>G (p.Phe1685Val)
n.1039T>G
c.365T>G
c.5059T>G (p.Phe1687Val)
c.346T>G (p.Phe116Val)
c.5068T>G (p.Phe1690Val)
c.4912T>G (p.Phe1638Val)
c.310T>G
n.443T>G
c.454T>G (p.Phe152Val)
n.44T>G
c.5254T>G (p.Phe1752Val)
c.1108T>G (p.Phe370Val)
c.511T>G (p.Phe171Val)
19g.13235631A>GCA404336605CACNA1Ac.5050T>C (p.Phe1684Leu)
c.5056T>C (p.Phe1686Leu)
c.469T>C
n.274T>C
c.211T>C (p.Phe71Leu)
n.255T>C
c.5053T>C (p.Phe1685Leu)
n.1039T>C
c.365T>C
c.5059T>C (p.Phe1687Leu)
c.346T>C (p.Phe116Leu)
c.5068T>C (p.Phe1690Leu)
c.4912T>C (p.Phe1638Leu)
c.310T>C
n.443T>C
c.454T>C (p.Phe152Leu)
n.44T>C
c.5254T>C (p.Phe1752Leu)
c.1108T>C (p.Phe370Leu)
c.511T>C (p.Phe171Leu)
19g.13235631A>TCA404336606CACNA1Ac.5050T>A (p.Phe1684Ile)
c.5056T>A (p.Phe1686Ile)
c.469T>A
n.274T>A
c.211T>A (p.Phe71Ile)
n.255T>A
c.5053T>A (p.Phe1685Ile)
n.1039T>A
c.365T>A
c.5059T>A (p.Phe1687Ile)
c.346T>A (p.Phe116Ile)
c.5068T>A (p.Phe1690Ile)
c.4912T>A (p.Phe1638Ile)
c.310T>A
n.443T>A
c.454T>A (p.Phe152Ile)
n.44T>A
c.5254T>A (p.Phe1752Ile)
c.1108T>A (p.Phe370Ile)
c.511T>A (p.Phe171Ile)
19g.13235632G>ACA505658752CACNA1Ac.5049C>T (p.Thr1683=)
c.5055C>T (p.Thr1685=)
c.468C>T
n.273C>T
c.210C>T (p.Thr70=)
n.254C>T
c.5052C>T (p.Thr1684=)
n.1038C>T
c.364C>T
c.5058C>T (p.Thr1686=)
c.345C>T (p.Thr115=)
c.5067C>T (p.Thr1689=)
c.4911C>T (p.Thr1637=)
c.309C>T
n.442C>T
c.453C>T (p.Thr151=)
n.43C>T
c.5253C>T (p.Thr1751=)
c.1107C>T (p.Thr369=)
c.510C>T (p.Thr170=)
19g.13235632G>CCA505658753CACNA1Ac.5049C>G (p.Thr1683=)
c.5055C>G (p.Thr1685=)
c.468C>G
n.273C>G
c.210C>G (p.Thr70=)
n.254C>G
c.5052C>G (p.Thr1684=)
n.1038C>G
c.364C>G
c.5058C>G (p.Thr1686=)
c.345C>G (p.Thr115=)
c.5067C>G (p.Thr1689=)
c.4911C>G (p.Thr1637=)
c.309C>G
n.442C>G
c.453C>G (p.Thr151=)
n.43C>G
c.5253C>G (p.Thr1751=)
c.1107C>G (p.Thr369=)
c.510C>G (p.Thr170=)
19g.13235632G>TCA505658754CACNA1Ac.5049C>A (p.Thr1683=)
c.5055C>A (p.Thr1685=)
c.468C>A
n.273C>A
c.210C>A (p.Thr70=)
n.254C>A
c.5052C>A (p.Thr1684=)
n.1038C>A
c.364C>A
c.5058C>A (p.Thr1686=)
c.345C>A (p.Thr115=)
c.5067C>A (p.Thr1689=)
c.4911C>A (p.Thr1637=)
c.309C>A
n.442C>A
c.453C>A (p.Thr151=)
n.43C>A
c.5253C>A (p.Thr1751=)
c.1107C>A (p.Thr369=)
c.510C>A (p.Thr170=)
19g.13235633G>ACA404336607CACNA1Ac.5048C>T (p.Thr1683Ile)
c.5054C>T (p.Thr1685Ile)
c.467C>T
n.272C>T
c.209C>T (p.Thr70Ile)
n.253C>T
c.5051C>T (p.Thr1684Ile)
n.1037C>T
c.363C>T
c.5057C>T (p.Thr1686Ile)
c.344C>T (p.Thr115Ile)
c.5066C>T (p.Thr1689Ile)
c.4910C>T (p.Thr1637Ile)
c.308C>T
n.441C>T
c.452C>T (p.Thr151Ile)
n.42C>T
c.5252C>T (p.Thr1751Ile)
c.1106C>T (p.Thr369Ile)
c.509C>T (p.Thr170Ile)
 ClinVar dbSNP
19g.13235633G>CCA404336609CACNA1Ac.5048C>G (p.Thr1683Ser)
c.5054C>G (p.Thr1685Ser)
c.467C>G
n.272C>G
c.209C>G (p.Thr70Ser)
n.253C>G
c.5051C>G (p.Thr1684Ser)
n.1037C>G
c.363C>G
c.5057C>G (p.Thr1686Ser)
c.344C>G (p.Thr115Ser)
c.5066C>G (p.Thr1689Ser)
c.4910C>G (p.Thr1637Ser)
c.308C>G
n.441C>G
c.452C>G (p.Thr151Ser)
n.42C>G
c.5252C>G (p.Thr1751Ser)
c.1106C>G (p.Thr369Ser)
c.509C>G (p.Thr170Ser)
19g.13235633G=CA2323795764CACNA1Ac.5048C= (p.Thr1683=)
c.5054C= (p.Thr1685=)
c.467C=
n.272C=
c.209C= (p.Thr70=)
n.253C=
c.5051C= (p.Thr1684=)
n.1037C=
c.363C=
c.5057C= (p.Thr1686=)
c.344C= (p.Thr115=)
c.5066C= (p.Thr1689=)
c.4910C= (p.Thr1637=)
c.308C=
n.441C=
c.452C= (p.Thr151=)
n.42C=
c.5252C= (p.Thr1751=)
c.1106C= (p.Thr369=)
c.509C= (p.Thr170=)
19g.13235633G>TCA404336610CACNA1Ac.5048C>A (p.Thr1683Asn)
c.5054C>A (p.Thr1685Asn)
c.467C>A
n.272C>A
c.209C>A (p.Thr70Asn)
n.253C>A
c.5051C>A (p.Thr1684Asn)
n.1037C>A
c.363C>A
c.5057C>A (p.Thr1686Asn)
c.344C>A (p.Thr115Asn)
c.5066C>A (p.Thr1689Asn)
c.4910C>A (p.Thr1637Asn)
c.308C>A
n.441C>A
c.452C>A (p.Thr151Asn)
n.42C>A
c.5252C>A (p.Thr1751Asn)
c.1106C>A (p.Thr369Asn)
c.509C>A (p.Thr170Asn)
19g.13235634T>ACA404336612CACNA1Ac.5047A>T (p.Thr1683Ser)
c.5053A>T (p.Thr1685Ser)
c.466A>T
n.271A>T
c.208A>T (p.Thr70Ser)
n.252A>T
c.5050A>T (p.Thr1684Ser)
n.1036A>T
c.362A>T
c.5056A>T (p.Thr1686Ser)
c.343A>T (p.Thr115Ser)
c.5065A>T (p.Thr1689Ser)
c.4909A>T (p.Thr1637Ser)
c.307A>T
n.440A>T
c.451A>T (p.Thr151Ser)
n.41A>T
c.5251A>T (p.Thr1751Ser)
c.1105A>T (p.Thr369Ser)
c.508A>T (p.Thr170Ser)
19g.13235634T>CCA404336614CACNA1Ac.5047A>G (p.Thr1683Ala)
c.5053A>G (p.Thr1685Ala)
c.466A>G
n.271A>G
c.208A>G (p.Thr70Ala)
n.252A>G
c.5050A>G (p.Thr1684Ala)
n.1036A>G
c.362A>G
c.5056A>G (p.Thr1686Ala)
c.343A>G (p.Thr115Ala)
c.5065A>G (p.Thr1689Ala)
c.4909A>G (p.Thr1637Ala)
c.307A>G
n.440A>G
c.451A>G (p.Thr151Ala)
n.41A>G
c.5251A>G (p.Thr1751Ala)
c.1105A>G (p.Thr369Ala)
c.508A>G (p.Thr170Ala)
19g.13235634T>GCA404336620CACNA1Ac.5047A>C (p.Thr1683Pro)
c.5053A>C (p.Thr1685Pro)
c.466A>C
n.271A>C
c.208A>C (p.Thr70Pro)
n.252A>C
c.5050A>C (p.Thr1684Pro)
n.1036A>C
c.362A>C
c.5056A>C (p.Thr1686Pro)
c.343A>C (p.Thr115Pro)
c.5065A>C (p.Thr1689Pro)
c.4909A>C (p.Thr1637Pro)
c.307A>C
n.440A>C
c.451A>C (p.Thr151Pro)
n.41A>C
c.5251A>C (p.Thr1751Pro)
c.1105A>C (p.Thr369Pro)
c.508A>C (p.Thr170Pro)
19g.13235635C>ACA404336628CACNA1Ac.5046G>T (p.Trp1682Cys)
c.5052G>T (p.Trp1684Cys)
c.465G>T
n.270G>T
c.207G>T (p.Trp69Cys)
n.251G>T
c.5049G>T (p.Trp1683Cys)
n.1035G>T
c.361G>T
c.5055G>T (p.Trp1685Cys)
c.342G>T (p.Trp114Cys)
c.5064G>T (p.Trp1688Cys)
c.4908G>T (p.Trp1636Cys)
c.306G>T
n.439G>T
c.450G>T (p.Trp150Cys)
n.40G>T
c.5250G>T (p.Trp1750Cys)
c.1104G>T (p.Trp368Cys)
c.507G>T (p.Trp169Cys)
19g.13235635C>GCA404336626CACNA1Ac.5046G>C (p.Trp1682Cys)
c.5052G>C (p.Trp1684Cys)
c.465G>C
n.270G>C
c.207G>C (p.Trp69Cys)
n.251G>C
c.5049G>C (p.Trp1683Cys)
n.1035G>C
c.361G>C
c.5055G>C (p.Trp1685Cys)
c.342G>C (p.Trp114Cys)
c.5064G>C (p.Trp1688Cys)
c.4908G>C (p.Trp1636Cys)
c.306G>C
n.439G>C
c.450G>C (p.Trp150Cys)
n.40G>C
c.5250G>C (p.Trp1750Cys)
c.1104G>C (p.Trp368Cys)
c.507G>C (p.Trp169Cys)
19g.13235635C>TCA404336624CACNA1Ac.5046G>A (p.Trp1682Ter)
c.5052G>A (p.Trp1684Ter)
c.465G>A
n.270G>A
c.207G>A (p.Trp69Ter)
n.251G>A
c.5049G>A (p.Trp1683Ter)
n.1035G>A
c.361G>A
c.5055G>A (p.Trp1685Ter)
c.342G>A (p.Trp114Ter)
c.5064G>A (p.Trp1688Ter)
c.4908G>A (p.Trp1636Ter)
c.306G>A
n.439G>A
c.450G>A (p.Trp150Ter)
n.40G>A
c.5250G>A (p.Trp1750Ter)
c.1104G>A (p.Trp368Ter)
c.507G>A (p.Trp169Ter)
19g.13235636C>ACA404336630CACNA1Ac.5045G>T (p.Trp1682Leu)
c.5051G>T (p.Trp1684Leu)
c.464G>T
n.269G>T
c.206G>T (p.Trp69Leu)
n.250G>T
c.5048G>T (p.Trp1683Leu)
n.1034G>T
c.360G>T
c.5054G>T (p.Trp1685Leu)
c.341G>T (p.Trp114Leu)
c.5063G>T (p.Trp1688Leu)
c.4907G>T (p.Trp1636Leu)
c.305G>T
n.438G>T
c.449G>T (p.Trp150Leu)
n.39G>T
c.5249G>T (p.Trp1750Leu)
c.1103G>T (p.Trp368Leu)
c.506G>T (p.Trp169Leu)
19g.13235636C>GCA404336633CACNA1Ac.5045G>C (p.Trp1682Ser)
c.5051G>C (p.Trp1684Ser)
c.464G>C
n.269G>C
c.206G>C (p.Trp69Ser)
n.250G>C
c.5048G>C (p.Trp1683Ser)
n.1034G>C
c.360G>C
c.5054G>C (p.Trp1685Ser)
c.341G>C (p.Trp114Ser)
c.5063G>C (p.Trp1688Ser)
c.4907G>C (p.Trp1636Ser)
c.305G>C
n.438G>C
c.449G>C (p.Trp150Ser)
n.39G>C
c.5249G>C (p.Trp1750Ser)
c.1103G>C (p.Trp368Ser)
c.506G>C (p.Trp169Ser)
19g.13235636C>TCA404336634CACNA1Ac.5045G>A (p.Trp1682Ter)
c.5051G>A (p.Trp1684Ter)
c.464G>A
n.269G>A
c.206G>A (p.Trp69Ter)
n.250G>A
c.5048G>A (p.Trp1683Ter)
n.1034G>A
c.360G>A
c.5054G>A (p.Trp1685Ter)
c.341G>A (p.Trp114Ter)
c.5063G>A (p.Trp1688Ter)
c.4907G>A (p.Trp1636Ter)
c.305G>A
n.438G>A
c.449G>A (p.Trp150Ter)
n.39G>A
c.5249G>A (p.Trp1750Ter)
c.1103G>A (p.Trp368Ter)
c.506G>A (p.Trp169Ter)
19g.13235637A=CA2323795765CACNA1Ac.5044T= (p.Trp1682=)
c.5050T= (p.Trp1684=)
c.463T=
n.268T=
c.205T= (p.Trp69=)
n.249T=
c.5047T= (p.Trp1683=)
n.1033T=
c.359T=
c.5053T= (p.Trp1685=)
c.340T= (p.Trp114=)
c.5062T= (p.Trp1688=)
c.4906T= (p.Trp1636=)
c.304T=
n.437T=
c.448T= (p.Trp150=)
n.38T=
c.5248T= (p.Trp1750=)
c.1102T= (p.Trp368=)
c.505T= (p.Trp169=)
19g.13235637A>CCA404336637CACNA1Ac.5044T>G (p.Trp1682Gly)
c.5050T>G (p.Trp1684Gly)
c.463T>G
n.268T>G
c.205T>G (p.Trp69Gly)
n.249T>G
c.5047T>G (p.Trp1683Gly)
n.1033T>G
c.359T>G
c.5053T>G (p.Trp1685Gly)
c.340T>G (p.Trp114Gly)
c.5062T>G (p.Trp1688Gly)
c.4906T>G (p.Trp1636Gly)
c.304T>G
n.437T>G
c.448T>G (p.Trp150Gly)
n.38T>G
c.5248T>G (p.Trp1750Gly)
c.1102T>G (p.Trp368Gly)
c.505T>G (p.Trp169Gly)
19g.13235637A>GCA266059CACNA1Ac.5044T>C (p.Trp1682Arg)
c.5050T>C (p.Trp1684Arg)
c.463T>C
n.268T>C
c.205T>C (p.Trp69Arg)
n.249T>C
c.5047T>C (p.Trp1683Arg)
n.1033T>C
c.359T>C
c.5053T>C (p.Trp1685Arg)
c.340T>C (p.Trp114Arg)
c.5062T>C (p.Trp1688Arg)
c.4906T>C (p.Trp1636Arg)
c.304T>C
n.437T>C
c.448T>C (p.Trp150Arg)
n.38T>C
c.5248T>C (p.Trp1750Arg)
c.1102T>C (p.Trp368Arg)
c.505T>C (p.Trp169Arg)
 ClinVar dbSNP
19g.13235637A>TCA404336641CACNA1Ac.5044T>A (p.Trp1682Arg)
c.5050T>A (p.Trp1684Arg)
c.463T>A
n.268T>A
c.205T>A (p.Trp69Arg)
n.249T>A
c.5047T>A (p.Trp1683Arg)
n.1033T>A
c.359T>A
c.5053T>A (p.Trp1685Arg)
c.340T>A (p.Trp114Arg)
c.5062T>A (p.Trp1688Arg)
c.4906T>A (p.Trp1636Arg)
c.304T>A
n.437T>A
c.448T>A (p.Trp150Arg)
n.38T>A
c.5248T>A (p.Trp1750Arg)
c.1102T>A (p.Trp368Arg)
c.505T>A (p.Trp169Arg)
19g.13235638G>ACA505658755CACNA1Ac.5043C>T (p.Leu1681=)
c.5049C>T (p.Leu1683=)
c.462C>T
n.267C>T
c.204C>T (p.Leu68=)
n.248C>T
c.5046C>T (p.Leu1682=)
n.1032C>T
c.358C>T
c.5052C>T (p.Leu1684=)
c.339C>T (p.Leu113=)
c.5061C>T (p.Leu1687=)
c.4905C>T (p.Leu1635=)
c.303C>T
n.436C>T
c.447C>T (p.Leu149=)
n.37C>T
c.5247C>T (p.Leu1749=)
c.1101C>T (p.Leu367=)
c.504C>T (p.Leu168=)
 dbSNP
19g.13235638G>CCA505658756CACNA1Ac.5043C>G (p.Leu1681=)
c.5049C>G (p.Leu1683=)
c.462C>G
n.267C>G
c.204C>G (p.Leu68=)
n.248C>G
c.5046C>G (p.Leu1682=)
n.1032C>G
c.358C>G
c.5052C>G (p.Leu1684=)
c.339C>G (p.Leu113=)
c.5061C>G (p.Leu1687=)
c.4905C>G (p.Leu1635=)
c.303C>G
n.436C>G
c.447C>G (p.Leu149=)
n.37C>G
c.5247C>G (p.Leu1749=)
c.1101C>G (p.Leu367=)
c.504C>G (p.Leu168=)
19g.13235638G=CA2323795766CACNA1Ac.5043C= (p.Leu1681=)
c.5049C= (p.Leu1683=)
c.462C=
n.267C=
c.204C= (p.Leu68=)
n.248C=
c.5046C= (p.Leu1682=)
n.1032C=
c.358C=
c.5052C= (p.Leu1684=)
c.339C= (p.Leu113=)
c.5061C= (p.Leu1687=)
c.4905C= (p.Leu1635=)
c.303C=
n.436C=
c.447C= (p.Leu149=)
n.37C=
c.5247C= (p.Leu1749=)
c.1101C= (p.Leu367=)
c.504C= (p.Leu168=)
19g.13235638G>TCA505658757CACNA1Ac.5043C>A (p.Leu1681=)
c.5049C>A (p.Leu1683=)
c.462C>A
n.267C>A
c.204C>A (p.Leu68=)
n.248C>A
c.5046C>A (p.Leu1682=)
n.1032C>A
c.358C>A
c.5052C>A (p.Leu1684=)
c.339C>A (p.Leu113=)
c.5061C>A (p.Leu1687=)
c.4905C>A (p.Leu1635=)
c.303C>A
n.436C>A
c.447C>A (p.Leu149=)
n.37C>A
c.5247C>A (p.Leu1749=)
c.1101C>A (p.Leu367=)
c.504C>A (p.Leu168=)
19g.13235639A>CCA404336643CACNA1Ac.5042T>G (p.Leu1681Arg)
c.5048T>G (p.Leu1683Arg)
c.461T>G
n.266T>G
c.203T>G (p.Leu68Arg)
n.247T>G
c.5045T>G (p.Leu1682Arg)
n.1031T>G
c.357T>G
c.5051T>G (p.Leu1684Arg)
c.338T>G (p.Leu113Arg)
c.5060T>G (p.Leu1687Arg)
c.4904T>G (p.Leu1635Arg)
c.302T>G
n.435T>G
c.446T>G (p.Leu149Arg)
n.36T>G
c.5246T>G (p.Leu1749Arg)
c.1100T>G (p.Leu367Arg)
c.503T>G (p.Leu168Arg)
19g.13235639A>GCA404336644CACNA1Ac.5042T>C (p.Leu1681Pro)
c.5048T>C (p.Leu1683Pro)
c.461T>C
n.266T>C
c.203T>C (p.Leu68Pro)
n.247T>C
c.5045T>C (p.Leu1682Pro)
n.1031T>C
c.357T>C
c.5051T>C (p.Leu1684Pro)
c.338T>C (p.Leu113Pro)
c.5060T>C (p.Leu1687Pro)
c.4904T>C (p.Leu1635Pro)
c.302T>C
n.435T>C
c.446T>C (p.Leu149Pro)
n.36T>C
c.5246T>C (p.Leu1749Pro)
c.1100T>C (p.Leu367Pro)
c.503T>C (p.Leu168Pro)
19g.13235639A>TCA404336645CACNA1Ac.5042T>A (p.Leu1681His)
c.5048T>A (p.Leu1683His)
c.461T>A
n.266T>A
c.203T>A (p.Leu68His)
n.247T>A
c.5045T>A (p.Leu1682His)
n.1031T>A
c.357T>A
c.5051T>A (p.Leu1684His)
c.338T>A (p.Leu113His)
c.5060T>A (p.Leu1687His)
c.4904T>A (p.Leu1635His)
c.302T>A
n.435T>A
c.446T>A (p.Leu149His)
n.36T>A
c.5246T>A (p.Leu1749His)
c.1100T>A (p.Leu367His)
c.503T>A (p.Leu168His)
19g.13235640G>ACA404336646CACNA1Ac.5041C>T (p.Leu1681Phe)
c.5047C>T (p.Leu1683Phe)
c.460C>T
n.265C>T
c.202C>T (p.Leu68Phe)
n.246C>T
c.5044C>T (p.Leu1682Phe)
n.1030C>T
c.356C>T
c.5050C>T (p.Leu1684Phe)
c.337C>T (p.Leu113Phe)
c.5059C>T (p.Leu1687Phe)
c.4903C>T (p.Leu1635Phe)
c.301C>T
n.434C>T
c.445C>T (p.Leu149Phe)
n.35C>T
c.5245C>T (p.Leu1749Phe)
c.1099C>T (p.Leu367Phe)
c.502C>T (p.Leu168Phe)
19g.13235640G>CCA404336647CACNA1Ac.5041C>G (p.Leu1681Val)
c.5047C>G (p.Leu1683Val)
c.460C>G
n.265C>G
c.202C>G (p.Leu68Val)
n.246C>G
c.5044C>G (p.Leu1682Val)
n.1030C>G
c.356C>G
c.5050C>G (p.Leu1684Val)
c.337C>G (p.Leu113Val)
c.5059C>G (p.Leu1687Val)
c.4903C>G (p.Leu1635Val)
c.301C>G
n.434C>G
c.445C>G (p.Leu149Val)
n.35C>G
c.5245C>G (p.Leu1749Val)
c.1099C>G (p.Leu367Val)
c.502C>G (p.Leu168Val)
19g.13235640G>TCA404336649CACNA1Ac.5041C>A (p.Leu1681Ile)
c.5047C>A (p.Leu1683Ile)
c.460C>A
n.265C>A
c.202C>A (p.Leu68Ile)
n.246C>A
c.5044C>A (p.Leu1682Ile)
n.1030C>A
c.356C>A
c.5050C>A (p.Leu1684Ile)
c.337C>A (p.Leu113Ile)
c.5059C>A (p.Leu1687Ile)
c.4903C>A (p.Leu1635Ile)
c.301C>A
n.434C>A
c.445C>A (p.Leu149Ile)
n.35C>A
c.5245C>A (p.Leu1749Ile)
c.1099C>A (p.Leu367Ile)
c.502C>A (p.Leu168Ile)
 COSMIC COSMIC COSMIC COSMIC
19g.13235641A>CCA505658760CACNA1Ac.5040T>G (p.Leu1680=)
c.5046T>G (p.Leu1682=)
c.459T>G
n.264T>G
c.201T>G (p.Leu67=)
n.245T>G
c.5043T>G (p.Leu1681=)
n.1029T>G
c.355T>G
c.5049T>G (p.Leu1683=)
c.336T>G (p.Leu112=)
c.5058T>G (p.Leu1686=)
c.4902T>G (p.Leu1634=)
c.300T>G
n.433T>G
c.444T>G (p.Leu148=)
n.34T>G
c.5244T>G (p.Leu1748=)
c.1098T>G (p.Leu366=)
c.501T>G (p.Leu167=)
19g.13235641A>GCA505658759CACNA1Ac.5040T>C (p.Leu1680=)
c.5046T>C (p.Leu1682=)
c.459T>C
n.264T>C
c.201T>C (p.Leu67=)
n.245T>C
c.5043T>C (p.Leu1681=)
n.1029T>C
c.355T>C
c.5049T>C (p.Leu1683=)
c.336T>C (p.Leu112=)
c.5058T>C (p.Leu1686=)
c.4902T>C (p.Leu1634=)
c.300T>C
n.433T>C
c.444T>C (p.Leu148=)
n.34T>C
c.5244T>C (p.Leu1748=)
c.1098T>C (p.Leu366=)
c.501T>C (p.Leu167=)
19g.13235641A>TCA505658758CACNA1Ac.5040T>A (p.Leu1680=)
c.5046T>A (p.Leu1682=)
c.459T>A
n.264T>A
c.201T>A (p.Leu67=)
n.245T>A
c.5043T>A (p.Leu1681=)
n.1029T>A
c.355T>A
c.5049T>A (p.Leu1683=)
c.336T>A (p.Leu112=)
c.5058T>A (p.Leu1686=)
c.4902T>A (p.Leu1634=)
c.300T>A
n.433T>A
c.444T>A (p.Leu148=)
n.34T>A
c.5244T>A (p.Leu1748=)
c.1098T>A (p.Leu366=)
c.501T>A (p.Leu167=)
19g.13235642A>CCA404336654CACNA1Ac.5039T>G (p.Leu1680Arg)
c.5045T>G (p.Leu1682Arg)
c.458T>G
n.263T>G
c.200T>G (p.Leu67Arg)
n.244T>G
c.5042T>G (p.Leu1681Arg)
n.1028T>G
c.354T>G
c.5048T>G (p.Leu1683Arg)
c.335T>G (p.Leu112Arg)
c.5057T>G (p.Leu1686Arg)
c.4901T>G (p.Leu1634Arg)
c.299T>G
n.432T>G
c.443T>G (p.Leu148Arg)
n.33T>G
c.5243T>G (p.Leu1748Arg)
c.1097T>G (p.Leu366Arg)
c.500T>G (p.Leu167Arg)
19g.13235642A>GCA404336655CACNA1Ac.5039T>C (p.Leu1680Pro)
c.5045T>C (p.Leu1682Pro)
c.458T>C
n.263T>C
c.200T>C (p.Leu67Pro)
n.244T>C
c.5042T>C (p.Leu1681Pro)
n.1028T>C
c.354T>C
c.5048T>C (p.Leu1683Pro)
c.335T>C (p.Leu112Pro)
c.5057T>C (p.Leu1686Pro)
c.4901T>C (p.Leu1634Pro)
c.299T>C
n.432T>C
c.443T>C (p.Leu148Pro)
n.33T>C
c.5243T>C (p.Leu1748Pro)
c.1097T>C (p.Leu366Pro)
c.500T>C (p.Leu167Pro)
19g.13235642A>TCA404336652CACNA1Ac.5039T>A (p.Leu1680His)
c.5045T>A (p.Leu1682His)
c.458T>A
n.263T>A
c.200T>A (p.Leu67His)
n.244T>A
c.5042T>A (p.Leu1681His)
n.1028T>A
c.354T>A
c.5048T>A (p.Leu1683His)
c.335T>A (p.Leu112His)
c.5057T>A (p.Leu1686His)
c.4901T>A (p.Leu1634His)
c.299T>A
n.432T>A
c.443T>A (p.Leu148His)
n.33T>A
c.5243T>A (p.Leu1748His)
c.1097T>A (p.Leu366His)
c.500T>A (p.Leu167His)
19g.13235643G>ACA404336656CACNA1Ac.5038C>T (p.Leu1680Phe)
c.5044C>T (p.Leu1682Phe)
c.457C>T
n.262C>T
c.199C>T (p.Leu67Phe)
n.243C>T
c.5041C>T (p.Leu1681Phe)
n.1027C>T
c.353C>T
c.5047C>T (p.Leu1683Phe)
c.334C>T (p.Leu112Phe)
c.5056C>T (p.Leu1686Phe)
c.4900C>T (p.Leu1634Phe)
c.298C>T
n.431C>T
c.442C>T (p.Leu148Phe)
n.32C>T
c.5242C>T (p.Leu1748Phe)
c.1096C>T (p.Leu366Phe)
c.499C>T (p.Leu167Phe)
19g.13235643G>CCA404336658CACNA1Ac.5038C>G (p.Leu1680Val)
c.5044C>G (p.Leu1682Val)
c.457C>G
n.262C>G
c.199C>G (p.Leu67Val)
n.243C>G
c.5041C>G (p.Leu1681Val)
n.1027C>G
c.353C>G
c.5047C>G (p.Leu1683Val)
c.334C>G (p.Leu112Val)
c.5056C>G (p.Leu1686Val)
c.4900C>G (p.Leu1634Val)
c.298C>G
n.431C>G
c.442C>G (p.Leu148Val)
n.32C>G
c.5242C>G (p.Leu1748Val)
c.1096C>G (p.Leu366Val)
c.499C>G (p.Leu167Val)
19g.13235643G>TCA404336659CACNA1Ac.5038C>A (p.Leu1680Ile)
c.5044C>A (p.Leu1682Ile)
c.457C>A
n.262C>A
c.199C>A (p.Leu67Ile)
n.243C>A
c.5041C>A (p.Leu1681Ile)
n.1027C>A
c.353C>A
c.5047C>A (p.Leu1683Ile)
c.334C>A (p.Leu112Ile)
c.5056C>A (p.Leu1686Ile)
c.4900C>A (p.Leu1634Ile)
c.298C>A
n.431C>A
c.442C>A (p.Leu148Ile)
n.32C>A
c.5242C>A (p.Leu1748Ile)
c.1096C>A (p.Leu366Ile)
c.499C>A (p.Leu167Ile)
19g.13235644A>CCA404336660CACNA1Ac.5037T>G (p.Ile1679Met)
c.5043T>G (p.Ile1681Met)
c.456T>G
n.261T>G
c.198T>G (p.Ile66Met)
n.242T>G
c.5040T>G (p.Ile1680Met)
n.1026T>G
c.352T>G
c.5046T>G (p.Ile1682Met)
c.333T>G (p.Ile111Met)
c.5055T>G (p.Ile1685Met)
c.4899T>G (p.Ile1633Met)
c.297T>G
n.430T>G
c.441T>G (p.Ile147Met)
n.31T>G
c.5241T>G (p.Ile1747Met)
c.1095T>G (p.Ile365Met)
c.498T>G (p.Ile166Met)
19g.13235644A>GCA505658761CACNA1Ac.5037T>C (p.Ile1679=)
c.5043T>C (p.Ile1681=)
c.456T>C
n.261T>C
c.198T>C (p.Ile66=)
n.242T>C
c.5040T>C (p.Ile1680=)
n.1026T>C
c.352T>C
c.5046T>C (p.Ile1682=)
c.333T>C (p.Ile111=)
c.5055T>C (p.Ile1685=)
c.4899T>C (p.Ile1633=)
c.297T>C
n.430T>C
c.441T>C (p.Ile147=)
n.31T>C
c.5241T>C (p.Ile1747=)
c.1095T>C (p.Ile365=)
c.498T>C (p.Ile166=)
19g.13235644A>TCA505658762CACNA1Ac.5037T>A (p.Ile1679=)
c.5043T>A (p.Ile1681=)
c.456T>A
n.261T>A
c.198T>A (p.Ile66=)
n.242T>A
c.5040T>A (p.Ile1680=)
n.1026T>A
c.352T>A
c.5046T>A (p.Ile1682=)
c.333T>A (p.Ile111=)
c.5055T>A (p.Ile1685=)
c.4899T>A (p.Ile1633=)
c.297T>A
n.430T>A
c.441T>A (p.Ile147=)
n.31T>A
c.5241T>A (p.Ile1747=)
c.1095T>A (p.Ile365=)
c.498T>A (p.Ile166=)
19g.13235645A>CCA404336662CACNA1Ac.5036T>G (p.Ile1679Ser)
c.5042T>G (p.Ile1681Ser)
c.455T>G
n.260T>G
c.197T>G (p.Ile66Ser)
n.241T>G
c.5039T>G (p.Ile1680Ser)
n.1025T>G
c.351T>G
c.5045T>G (p.Ile1682Ser)
c.332T>G (p.Ile111Ser)
c.5054T>G (p.Ile1685Ser)
c.4898T>G (p.Ile1633Ser)
c.296T>G
n.429T>G
c.440T>G (p.Ile147Ser)
n.30T>G
c.5240T>G (p.Ile1747Ser)
c.1094T>G (p.Ile365Ser)
c.497T>G (p.Ile166Ser)
19g.13235645A>GCA404336663CACNA1Ac.5036T>C (p.Ile1679Thr)
c.5042T>C (p.Ile1681Thr)
c.455T>C
n.260T>C
c.197T>C (p.Ile66Thr)
n.241T>C
c.5039T>C (p.Ile1680Thr)
n.1025T>C
c.351T>C
c.5045T>C (p.Ile1682Thr)
c.332T>C (p.Ile111Thr)
c.5054T>C (p.Ile1685Thr)
c.4898T>C (p.Ile1633Thr)
c.296T>C
n.429T>C
c.440T>C (p.Ile147Thr)
n.30T>C
c.5240T>C (p.Ile1747Thr)
c.1094T>C (p.Ile365Thr)
c.497T>C (p.Ile166Thr)
19g.13235645A>TCA404336665CACNA1Ac.5036T>A (p.Ile1679Asn)
c.5042T>A (p.Ile1681Asn)
c.455T>A
n.260T>A
c.197T>A (p.Ile66Asn)
n.241T>A
c.5039T>A (p.Ile1680Asn)
n.1025T>A
c.351T>A
c.5045T>A (p.Ile1682Asn)
c.332T>A (p.Ile111Asn)
c.5054T>A (p.Ile1685Asn)
c.4898T>A (p.Ile1633Asn)
c.296T>A
n.429T>A
c.440T>A (p.Ile147Asn)
n.30T>A
c.5240T>A (p.Ile1747Asn)
c.1094T>A (p.Ile365Asn)
c.497T>A (p.Ile166Asn)
19g.13235646T>ACA404336668CACNA1Ac.5035A>T (p.Ile1679Phe)
c.5041A>T (p.Ile1681Phe)
c.454A>T
n.259A>T
c.196A>T (p.Ile66Phe)
n.240A>T
c.5038A>T (p.Ile1680Phe)
n.1024A>T
c.350A>T
c.5044A>T (p.Ile1682Phe)
c.331A>T (p.Ile111Phe)
c.5053A>T (p.Ile1685Phe)
c.4897A>T (p.Ile1633Phe)
c.295A>T
n.428A>T
c.439A>T (p.Ile147Phe)
n.29A>T
c.5239A>T (p.Ile1747Phe)
c.1093A>T (p.Ile365Phe)
c.496A>T (p.Ile166Phe)
19g.13235646T>CCA404336670CACNA1Ac.5035A>G (p.Ile1679Val)
c.5041A>G (p.Ile1681Val)
c.454A>G
n.259A>G
c.196A>G (p.Ile66Val)
n.240A>G
c.5038A>G (p.Ile1680Val)
n.1024A>G
c.350A>G
c.5044A>G (p.Ile1682Val)
c.331A>G (p.Ile111Val)
c.5053A>G (p.Ile1685Val)
c.4897A>G (p.Ile1633Val)
c.295A>G
n.428A>G
c.439A>G (p.Ile147Val)
n.29A>G
c.5239A>G (p.Ile1747Val)
c.1093A>G (p.Ile365Val)
c.496A>G (p.Ile166Val)
 dbSNP gnomAD v2
19g.13235646T>GCA404336673CACNA1Ac.5035A>C (p.Ile1679Leu)
c.5041A>C (p.Ile1681Leu)
c.454A>C
n.259A>C
c.196A>C (p.Ile66Leu)
n.240A>C
c.5038A>C (p.Ile1680Leu)
n.1024A>C
c.350A>C
c.5044A>C (p.Ile1682Leu)
c.331A>C (p.Ile111Leu)
c.5053A>C (p.Ile1685Leu)
c.4897A>C (p.Ile1633Leu)
c.295A>C
n.428A>C
c.439A>C (p.Ile147Leu)
n.29A>C
c.5239A>C (p.Ile1747Leu)
c.1093A>C (p.Ile365Leu)
c.496A>C (p.Ile166Leu)
19g.13235646T=CA2323795767CACNA1Ac.5035A= (p.Ile1679=)
c.5041A= (p.Ile1681=)
c.454A=
n.259A=
c.196A= (p.Ile66=)
n.240A=
c.5038A= (p.Ile1680=)
n.1024A=
c.350A=
c.5044A= (p.Ile1682=)
c.331A= (p.Ile111=)
c.5053A= (p.Ile1685=)
c.4897A= (p.Ile1633=)
c.295A=
n.428A=
c.439A= (p.Ile147=)
n.29A=
c.5239A= (p.Ile1747=)
c.1093A= (p.Ile365=)
c.496A= (p.Ile166=)
19g.13235647G>ACA505658763CACNA1Ac.5034C>T (p.Arg1678=)
c.5040C>T (p.Arg1680=)
c.453C>T
n.258C>T
c.195C>T (p.Arg65=)
n.239C>T
c.5037C>T (p.Arg1679=)
n.1023C>T
c.349C>T
c.5043C>T (p.Arg1681=)
c.330C>T (p.Arg110=)
c.5052C>T (p.Arg1684=)
c.4896C>T (p.Arg1632=)
c.294C>T
n.427C>T
c.438C>T (p.Arg146=)
n.28C>T
c.5238C>T (p.Arg1746=)
c.1092C>T (p.Arg364=)
c.495C>T (p.Arg165=)
 gnomAD v4
19g.13235647G>CCA505658765CACNA1Ac.5034C>G (p.Arg1678=)
c.5040C>G (p.Arg1680=)
c.453C>G
n.258C>G
c.195C>G (p.Arg65=)
n.239C>G
c.5037C>G (p.Arg1679=)
n.1023C>G
c.349C>G
c.5043C>G (p.Arg1681=)
c.330C>G (p.Arg110=)
c.5052C>G (p.Arg1684=)
c.4896C>G (p.Arg1632=)
c.294C>G
n.427C>G
c.438C>G (p.Arg146=)
n.28C>G
c.5238C>G (p.Arg1746=)
c.1092C>G (p.Arg364=)
c.495C>G (p.Arg165=)
19g.13235647G>TCA505658764CACNA1Ac.5034C>A (p.Arg1678=)
c.5040C>A (p.Arg1680=)
c.453C>A
n.258C>A
c.195C>A (p.Arg65=)
n.239C>A
c.5037C>A (p.Arg1679=)
n.1023C>A
c.349C>A
c.5043C>A (p.Arg1681=)
c.330C>A (p.Arg110=)
c.5052C>A (p.Arg1684=)
c.4896C>A (p.Arg1632=)
c.294C>A
n.427C>A
c.438C>A (p.Arg146=)
n.28C>A
c.5238C>A (p.Arg1746=)
c.1092C>A (p.Arg364=)
c.495C>A (p.Arg165=)
19g.13235648C>ACA404336675CACNA1Ac.5033G>T (p.Arg1678Leu)
c.5039G>T (p.Arg1680Leu)
c.452G>T
n.257G>T
c.194G>T (p.Arg65Leu)
n.238G>T
c.5036G>T (p.Arg1679Leu)
n.1022G>T
c.348G>T
c.5042G>T (p.Arg1681Leu)
c.329G>T (p.Arg110Leu)
c.5051G>T (p.Arg1684Leu)
c.4895G>T (p.Arg1632Leu)
c.293G>T
n.426G>T
c.437G>T (p.Arg146Leu)
n.27G>T
c.5237G>T (p.Arg1746Leu)
c.1091G>T (p.Arg364Leu)
c.494G>T (p.Arg165Leu)
19g.13235648C=CA2323795768CACNA1Ac.5033G= (p.Arg1678=)
c.5039G= (p.Arg1680=)
c.452G=
n.257G=
c.194G= (p.Arg65=)
n.238G=
c.5036G= (p.Arg1679=)
n.1022G=
c.348G=
c.5042G= (p.Arg1681=)
c.329G= (p.Arg110=)
c.5051G= (p.Arg1684=)
c.4895G= (p.Arg1632=)
c.293G=
n.426G=
c.437G= (p.Arg146=)
n.27G=
c.5237G= (p.Arg1746=)
c.1091G= (p.Arg364=)
c.494G= (p.Arg165=)
19g.13235648C>GCA404336677CACNA1Ac.5033G>C (p.Arg1678Pro)
c.5039G>C (p.Arg1680Pro)
c.452G>C
n.257G>C
c.194G>C (p.Arg65Pro)
n.238G>C
c.5036G>C (p.Arg1679Pro)
n.1022G>C
c.348G>C
c.5042G>C (p.Arg1681Pro)
c.329G>C (p.Arg110Pro)
c.5051G>C (p.Arg1684Pro)
c.4895G>C (p.Arg1632Pro)
c.293G>C
n.426G>C
c.437G>C (p.Arg146Pro)
n.27G>C
c.5237G>C (p.Arg1746Pro)
c.1091G>C (p.Arg364Pro)
c.494G>C (p.Arg165Pro)
19g.13235648C>TCA404336679CACNA1Ac.5033G>A (p.Arg1678His)
c.5039G>A (p.Arg1680His)
c.452G>A
n.257G>A
c.194G>A (p.Arg65His)
n.238G>A
c.5036G>A (p.Arg1679His)
n.1022G>A
c.348G>A
c.5042G>A (p.Arg1681His)
c.329G>A (p.Arg110His)
c.5051G>A (p.Arg1684His)
c.4895G>A (p.Arg1632His)
c.293G>A
n.426G>A
c.437G>A (p.Arg146His)
n.27G>A
c.5237G>A (p.Arg1746His)
c.1091G>A (p.Arg364His)
c.494G>A (p.Arg165His)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13235648dupCA2573332508CACNA1Ac.5033dup (p.Ile1679HisfsTer?)
c.5039dup (p.Ile1681HisfsTer?)
c.452dup
n.257dup
c.194dup (p.Ile66HisfsTer?)
n.238dup
c.5036dup (p.Ile1680HisfsTer?)
n.1022dup
c.348dup
c.194dup (p.Ile66HisfsTer15)
c.5042dup (p.Ile1682HisfsTer?)
c.329dup (p.Ile111HisfsTer?)
c.5051dup (p.Ile1685HisfsTer?)
c.4895dup (p.Ile1633HisfsTer?)
c.293dup
n.426dup
c.437dup (p.Ile147HisfsTer?)
n.27dup
c.5237dup (p.Ile1747HisfsTer?)
c.1091dup (p.Ile365HisfsTer?)
c.494dup (p.Ile166HisfsTer?)
 ClinVar
19g.13235649G>ACA266056CACNA1Ac.5032C>T (p.Arg1678Cys)
c.5038C>T (p.Arg1680Cys)
c.451C>T
n.256C>T
c.193C>T (p.Arg65Cys)
n.237C>T
c.5035C>T (p.Arg1679Cys)
n.1021C>T
c.347C>T
c.5041C>T (p.Arg1681Cys)
c.328C>T (p.Arg110Cys)
c.5050C>T (p.Arg1684Cys)
c.4894C>T (p.Arg1632Cys)
c.292C>T
n.425C>T
c.436C>T (p.Arg146Cys)
n.26C>T
c.5236C>T (p.Arg1746Cys)
c.1090C>T (p.Arg364Cys)
c.493C>T (p.Arg165Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13235649G>CCA404336684CACNA1Ac.5032C>G (p.Arg1678Gly)
c.5038C>G (p.Arg1680Gly)
c.451C>G
n.256C>G
c.193C>G (p.Arg65Gly)
n.237C>G
c.5035C>G (p.Arg1679Gly)
n.1021C>G
c.347C>G
c.5041C>G (p.Arg1681Gly)
c.328C>G (p.Arg110Gly)
c.5050C>G (p.Arg1684Gly)
c.4894C>G (p.Arg1632Gly)
c.292C>G
n.425C>G
c.436C>G (p.Arg146Gly)
n.26C>G
c.5236C>G (p.Arg1746Gly)
c.1090C>G (p.Arg364Gly)
c.493C>G (p.Arg165Gly)
19g.13235649G=CA2323795769CACNA1Ac.5032C= (p.Arg1678=)
c.5038C= (p.Arg1680=)
c.451C=
n.256C=
c.193C= (p.Arg65=)
n.237C=
c.5035C= (p.Arg1679=)
n.1021C=
c.347C=
c.5041C= (p.Arg1681=)
c.328C= (p.Arg110=)
c.5050C= (p.Arg1684=)
c.4894C= (p.Arg1632=)
c.292C=
n.425C=
c.436C= (p.Arg146=)
n.26C=
c.5236C= (p.Arg1746=)
c.1090C= (p.Arg364=)
c.493C= (p.Arg165=)
19g.13235649G>TCA404336682CACNA1Ac.5032C>A (p.Arg1678Ser)
c.5038C>A (p.Arg1680Ser)
c.451C>A
n.256C>A
c.193C>A (p.Arg65Ser)
n.237C>A
c.5035C>A (p.Arg1679Ser)
n.1021C>A
c.347C>A
c.5041C>A (p.Arg1681Ser)
c.328C>A (p.Arg110Ser)
c.5050C>A (p.Arg1684Ser)
c.4894C>A (p.Arg1632Ser)
c.292C>A
n.425C>A
c.436C>A (p.Arg146Ser)
n.26C>A
c.5236C>A (p.Arg1746Ser)
c.1090C>A (p.Arg364Ser)
c.493C>A (p.Arg165Ser)
 ClinVar
19g.13235650G>ACA505658766CACNA1Ac.5031C>T (p.Ile1677=)
c.5037C>T (p.Ile1679=)
c.450C>T
n.255C>T
c.192C>T (p.Ile64=)
n.236C>T
c.5034C>T (p.Ile1678=)
n.1020C>T
c.346C>T
c.5040C>T (p.Ile1680=)
c.327C>T (p.Ile109=)
c.5049C>T (p.Ile1683=)
c.4893C>T (p.Ile1631=)
c.291C>T
n.424C>T
c.435C>T (p.Ile145=)
n.25C>T
c.5235C>T (p.Ile1745=)
c.1089C>T (p.Ile363=)
c.492C>T (p.Ile164=)
19g.13235650G>CCA404336688CACNA1Ac.5031C>G (p.Ile1677Met)
c.5037C>G (p.Ile1679Met)
c.450C>G
n.255C>G
c.192C>G (p.Ile64Met)
n.236C>G
c.5034C>G (p.Ile1678Met)
n.1020C>G
c.346C>G
c.5040C>G (p.Ile1680Met)
c.327C>G (p.Ile109Met)
c.5049C>G (p.Ile1683Met)
c.4893C>G (p.Ile1631Met)
c.291C>G
n.424C>G
c.435C>G (p.Ile145Met)
n.25C>G
c.5235C>G (p.Ile1745Met)
c.1089C>G (p.Ile363Met)
c.492C>G (p.Ile164Met)
19g.13235650G=CA2323795770CACNA1Ac.5031C= (p.Ile1677=)
c.5037C= (p.Ile1679=)
c.450C=
n.255C=
c.192C= (p.Ile64=)
n.236C=
c.5034C= (p.Ile1678=)
n.1020C=
c.346C=
c.5040C= (p.Ile1680=)
c.327C= (p.Ile109=)
c.5049C= (p.Ile1683=)
c.4893C= (p.Ile1631=)
c.291C=
n.424C=
c.435C= (p.Ile145=)
n.25C=
c.5235C= (p.Ile1745=)
c.1089C= (p.Ile363=)
c.492C= (p.Ile164=)
19g.13235650G>TCA505658767CACNA1Ac.5031C>A (p.Ile1677=)
c.5037C>A (p.Ile1679=)
c.450C>A
n.255C>A
c.192C>A (p.Ile64=)
n.236C>A
c.5034C>A (p.Ile1678=)
n.1020C>A
c.346C>A
c.5040C>A (p.Ile1680=)
c.327C>A (p.Ile109=)
c.5049C>A (p.Ile1683=)
c.4893C>A (p.Ile1631=)
c.291C>A
n.424C>A
c.435C>A (p.Ile145=)
n.25C>A
c.5235C>A (p.Ile1745=)
c.1089C>A (p.Ile363=)
c.492C>A (p.Ile164=)
 ClinVar dbSNP
19g.13235651A>CCA404336691CACNA1Ac.5030T>G (p.Ile1677Ser)
c.5036T>G (p.Ile1679Ser)
c.449T>G
n.254T>G
c.191T>G (p.Ile64Ser)
n.235T>G
c.5033T>G (p.Ile1678Ser)
n.1019T>G
c.345T>G
c.5039T>G (p.Ile1680Ser)
c.326T>G (p.Ile109Ser)
c.5048T>G (p.Ile1683Ser)
c.4892T>G (p.Ile1631Ser)
c.290T>G
n.423T>G
c.434T>G (p.Ile145Ser)
n.24T>G
c.5234T>G (p.Ile1745Ser)
c.1088T>G (p.Ile363Ser)
c.491T>G (p.Ile164Ser)
19g.13235651A>GCA404336694CACNA1Ac.5030T>C (p.Ile1677Thr)
c.5036T>C (p.Ile1679Thr)
c.449T>C
n.254T>C
c.191T>C (p.Ile64Thr)
n.235T>C
c.5033T>C (p.Ile1678Thr)
n.1019T>C
c.345T>C
c.5039T>C (p.Ile1680Thr)
c.326T>C (p.Ile109Thr)
c.5048T>C (p.Ile1683Thr)
c.4892T>C (p.Ile1631Thr)
c.290T>C
n.423T>C
c.434T>C (p.Ile145Thr)
n.24T>C
c.5234T>C (p.Ile1745Thr)
c.1088T>C (p.Ile363Thr)
c.491T>C (p.Ile164Thr)
19g.13235651A>TCA404336697CACNA1Ac.5030T>A (p.Ile1677Asn)
c.5036T>A (p.Ile1679Asn)
c.449T>A
n.254T>A
c.191T>A (p.Ile64Asn)
n.235T>A
c.5033T>A (p.Ile1678Asn)
n.1019T>A
c.345T>A
c.5039T>A (p.Ile1680Asn)
c.326T>A (p.Ile109Asn)
c.5048T>A (p.Ile1683Asn)
c.4892T>A (p.Ile1631Asn)
c.290T>A
n.423T>A
c.434T>A (p.Ile145Asn)
n.24T>A
c.5234T>A (p.Ile1745Asn)
c.1088T>A (p.Ile363Asn)
c.491T>A (p.Ile164Asn)
19g.13235652T>ACA404336699CACNA1Ac.5029A>T (p.Ile1677Phe)
c.5035A>T (p.Ile1679Phe)
c.448A>T
n.253A>T
c.190A>T (p.Ile64Phe)
n.234A>T
c.5032A>T (p.Ile1678Phe)
n.1018A>T
c.344A>T
c.5038A>T (p.Ile1680Phe)
c.325A>T (p.Ile109Phe)
c.5047A>T (p.Ile1683Phe)
c.4891A>T (p.Ile1631Phe)
c.289A>T
n.422A>T
c.433A>T (p.Ile145Phe)
n.23A>T
c.5233A>T (p.Ile1745Phe)
c.1087A>T (p.Ile363Phe)
c.490A>T (p.Ile164Phe)
19g.13235652T>CCA9239855CACNA1Ac.5029A>G (p.Ile1677Val)
c.5035A>G (p.Ile1679Val)
c.448A>G
n.253A>G
c.190A>G (p.Ile64Val)
n.234A>G
c.5032A>G (p.Ile1678Val)
n.1018A>G
c.344A>G
c.5038A>G (p.Ile1680Val)
c.325A>G (p.Ile109Val)
c.5047A>G (p.Ile1683Val)
c.4891A>G (p.Ile1631Val)
c.289A>G
n.422A>G
c.433A>G (p.Ile145Val)
n.23A>G
c.5233A>G (p.Ile1745Val)
c.1087A>G (p.Ile363Val)
c.490A>G (p.Ile164Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13235652T>GCA404336703CACNA1Ac.5029A>C (p.Ile1677Leu)
c.5035A>C (p.Ile1679Leu)
c.448A>C
n.253A>C
c.190A>C (p.Ile64Leu)
n.234A>C
c.5032A>C (p.Ile1678Leu)
n.1018A>C
c.344A>C
c.5038A>C (p.Ile1680Leu)
c.325A>C (p.Ile109Leu)
c.5047A>C (p.Ile1683Leu)
c.4891A>C (p.Ile1631Leu)
c.289A>C
n.422A>C
c.433A>C (p.Ile145Leu)
n.23A>C
c.5233A>C (p.Ile1745Leu)
c.1087A>C (p.Ile363Leu)
c.490A>C (p.Ile164Leu)
19g.13235652T=CA2323795771CACNA1Ac.5029A= (p.Ile1677=)
c.5035A= (p.Ile1679=)
c.448A=
n.253A=
c.190A= (p.Ile64=)
n.234A=
c.5032A= (p.Ile1678=)
n.1018A=
c.344A=
c.5038A= (p.Ile1680=)
c.325A= (p.Ile109=)
c.5047A= (p.Ile1683=)
c.4891A= (p.Ile1631=)
c.289A=
n.422A=
c.433A= (p.Ile145=)
n.23A=
c.5233A= (p.Ile1745=)
c.1087A= (p.Ile363=)
c.490A= (p.Ile164=)
19g.13235653G>ACA305517369CACNA1Ac.5028C>T (p.Thr1676=)
c.5034C>T (p.Thr1678=)
c.447C>T
n.252C>T
c.189C>T (p.Thr63=)
n.233C>T
c.5031C>T (p.Thr1677=)
n.1017C>T
c.343C>T
c.5037C>T (p.Thr1679=)
c.324C>T (p.Thr108=)
c.5046C>T (p.Thr1682=)
c.4890C>T (p.Thr1630=)
c.288C>T
n.421C>T
c.432C>T (p.Thr144=)
n.22C>T
c.5232C>T (p.Thr1744=)
c.1086C>T (p.Thr362=)
c.489C>T (p.Thr163=)
 dbSNP gnomAD v2 gnomAD v4
19g.13235653G>CCA505658769CACNA1Ac.5028C>G (p.Thr1676=)
c.5034C>G (p.Thr1678=)
c.447C>G
n.252C>G
c.189C>G (p.Thr63=)
n.233C>G
c.5031C>G (p.Thr1677=)
n.1017C>G
c.343C>G
c.5037C>G (p.Thr1679=)
c.324C>G (p.Thr108=)
c.5046C>G (p.Thr1682=)
c.4890C>G (p.Thr1630=)
c.288C>G
n.421C>G
c.432C>G (p.Thr144=)
n.22C>G
c.5232C>G (p.Thr1744=)
c.1086C>G (p.Thr362=)
c.489C>G (p.Thr163=)
19g.13235653G=CA2323795772CACNA1Ac.5028C= (p.Thr1676=)
c.5034C= (p.Thr1678=)
c.447C=
n.252C=
c.189C= (p.Thr63=)
n.233C=
c.5031C= (p.Thr1677=)
n.1017C=
c.343C=
c.5037C= (p.Thr1679=)
c.324C= (p.Thr108=)
c.5046C= (p.Thr1682=)
c.4890C= (p.Thr1630=)
c.288C=
n.421C=
c.432C= (p.Thr144=)
n.22C=
c.5232C= (p.Thr1744=)
c.1086C= (p.Thr362=)
c.489C= (p.Thr163=)
19g.13235653G>TCA505658768CACNA1Ac.5028C>A (p.Thr1676=)
c.5034C>A (p.Thr1678=)
c.447C>A
n.252C>A
c.189C>A (p.Thr63=)
n.233C>A
c.5031C>A (p.Thr1677=)
n.1017C>A
c.343C>A
c.5037C>A (p.Thr1679=)
c.324C>A (p.Thr108=)
c.5046C>A (p.Thr1682=)
c.4890C>A (p.Thr1630=)
c.288C>A
n.421C>A
c.432C>A (p.Thr144=)
n.22C>A
c.5232C>A (p.Thr1744=)
c.1086C>A (p.Thr362=)
c.489C>A (p.Thr163=)
19g.13235654G>ACA404336708CACNA1Ac.5027C>T (p.Thr1676Ile)
c.5033C>T (p.Thr1678Ile)
c.446C>T
n.251C>T
c.188C>T (p.Thr63Ile)
n.232C>T
c.5030C>T (p.Thr1677Ile)
n.1016C>T
c.342C>T
c.5036C>T (p.Thr1679Ile)
c.323C>T (p.Thr108Ile)
c.5045C>T (p.Thr1682Ile)
c.4889C>T (p.Thr1630Ile)
c.287C>T
n.420C>T
c.431C>T (p.Thr144Ile)
n.21C>T
c.5231C>T (p.Thr1744Ile)
c.1085C>T (p.Thr362Ile)
c.488C>T (p.Thr163Ile)
19g.13235654G>CCA404336710CACNA1Ac.5027C>G (p.Thr1676Ser)
c.5033C>G (p.Thr1678Ser)
c.446C>G
n.251C>G
c.188C>G (p.Thr63Ser)
n.232C>G
c.5030C>G (p.Thr1677Ser)
n.1016C>G
c.342C>G
c.5036C>G (p.Thr1679Ser)
c.323C>G (p.Thr108Ser)
c.5045C>G (p.Thr1682Ser)
c.4889C>G (p.Thr1630Ser)
c.287C>G
n.420C>G
c.431C>G (p.Thr144Ser)
n.21C>G
c.5231C>G (p.Thr1744Ser)
c.1085C>G (p.Thr362Ser)
c.488C>G (p.Thr163Ser)
19g.13235654G>TCA404336713CACNA1Ac.5027C>A (p.Thr1676Asn)
c.5033C>A (p.Thr1678Asn)
c.446C>A
n.251C>A
c.188C>A (p.Thr63Asn)
n.232C>A
c.5030C>A (p.Thr1677Asn)
n.1016C>A
c.342C>A
c.5036C>A (p.Thr1679Asn)
c.323C>A (p.Thr108Asn)
c.5045C>A (p.Thr1682Asn)
c.4889C>A (p.Thr1630Asn)
c.287C>A
n.420C>A
c.431C>A (p.Thr144Asn)
n.21C>A
c.5231C>A (p.Thr1744Asn)
c.1085C>A (p.Thr362Asn)
c.488C>A (p.Thr163Asn)
19g.13235655T>ACA404336716CACNA1Ac.5026A>T (p.Thr1676Ser)
c.5032A>T (p.Thr1678Ser)
c.445A>T
n.250A>T
c.187A>T (p.Thr63Ser)
n.231A>T
c.5029A>T (p.Thr1677Ser)
n.1015A>T
c.341A>T
c.5035A>T (p.Thr1679Ser)
c.322A>T (p.Thr108Ser)
c.5044A>T (p.Thr1682Ser)
c.4888A>T (p.Thr1630Ser)
c.286A>T
n.419A>T
c.430A>T (p.Thr144Ser)
n.20A>T
c.5230A>T (p.Thr1744Ser)
c.1084A>T (p.Thr362Ser)
c.487A>T (p.Thr163Ser)
19g.13235655T>CCA404336720CACNA1Ac.5026A>G (p.Thr1676Ala)
c.5032A>G (p.Thr1678Ala)
c.445A>G
n.250A>G
c.187A>G (p.Thr63Ala)
n.231A>G
c.5029A>G (p.Thr1677Ala)
n.1015A>G
c.341A>G
c.5035A>G (p.Thr1679Ala)
c.322A>G (p.Thr108Ala)
c.5044A>G (p.Thr1682Ala)
c.4888A>G (p.Thr1630Ala)
c.286A>G
n.419A>G
c.430A>G (p.Thr144Ala)
n.20A>G
c.5230A>G (p.Thr1744Ala)
c.1084A>G (p.Thr362Ala)
c.487A>G (p.Thr163Ala)
 COSMIC COSMIC COSMIC COSMIC
19g.13235655T>GCA404336723CACNA1Ac.5026A>C (p.Thr1676Pro)
c.5032A>C (p.Thr1678Pro)
c.445A>C
n.250A>C
c.187A>C (p.Thr63Pro)
n.231A>C
c.5029A>C (p.Thr1677Pro)
n.1015A>C
c.341A>C
c.5035A>C (p.Thr1679Pro)
c.322A>C (p.Thr108Pro)
c.5044A>C (p.Thr1682Pro)
c.4888A>C (p.Thr1630Pro)
c.286A>C
n.419A>C
c.430A>C (p.Thr144Pro)
n.20A>C
c.5230A>C (p.Thr1744Pro)
c.1084A>C (p.Thr362Pro)
c.487A>C (p.Thr163Pro)
19g.13235656G>ACA505658770CACNA1Ac.5025C>T (p.Tyr1675=)
c.5031C>T (p.Tyr1677=)
c.444C>T
n.249C>T
c.186C>T (p.Tyr62=)
n.230C>T
c.5028C>T (p.Tyr1676=)
n.1014C>T
c.340C>T
c.5034C>T (p.Tyr1678=)
c.321C>T (p.Tyr107=)
c.5043C>T (p.Tyr1681=)
c.4887C>T (p.Tyr1629=)
c.285C>T
n.418C>T
c.429C>T (p.Tyr143=)
n.19C>T
c.5229C>T (p.Tyr1743=)
c.1083C>T (p.Tyr361=)
c.486C>T (p.Tyr162=)
 dbSNP gnomAD v3 gnomAD v4
19g.13235656G>CCA404336728CACNA1Ac.5025C>G (p.Tyr1675Ter)
c.5031C>G (p.Tyr1677Ter)
c.444C>G
n.249C>G
c.186C>G (p.Tyr62Ter)
n.230C>G
c.5028C>G (p.Tyr1676Ter)
n.1014C>G
c.340C>G
c.5034C>G (p.Tyr1678Ter)
c.321C>G (p.Tyr107Ter)
c.5043C>G (p.Tyr1681Ter)
c.4887C>G (p.Tyr1629Ter)
c.285C>G
n.418C>G
c.429C>G (p.Tyr143Ter)
n.19C>G
c.5229C>G (p.Tyr1743Ter)
c.1083C>G (p.Tyr361Ter)
c.486C>G (p.Tyr162Ter)
19g.13235656G=CA2323795773CACNA1Ac.5025C= (p.Tyr1675=)
c.5031C= (p.Tyr1677=)
c.444C=
n.249C=
c.186C= (p.Tyr62=)
n.230C=
c.5028C= (p.Tyr1676=)
n.1014C=
c.340C=
c.5034C= (p.Tyr1678=)
c.321C= (p.Tyr107=)
c.5043C= (p.Tyr1681=)
c.4887C= (p.Tyr1629=)
c.285C=
n.418C=
c.429C= (p.Tyr143=)
n.19C=
c.5229C= (p.Tyr1743=)
c.1083C= (p.Tyr361=)
c.486C= (p.Tyr162=)
19g.13235656G>TCA404336726CACNA1Ac.5025C>A (p.Tyr1675Ter)
c.5031C>A (p.Tyr1677Ter)
c.444C>A
n.249C>A
c.186C>A (p.Tyr62Ter)
n.230C>A
c.5028C>A (p.Tyr1676Ter)
n.1014C>A
c.340C>A
c.5034C>A (p.Tyr1678Ter)
c.321C>A (p.Tyr107Ter)
c.5043C>A (p.Tyr1681Ter)
c.4887C>A (p.Tyr1629Ter)
c.285C>A
n.418C>A
c.429C>A (p.Tyr143Ter)
n.19C>A
c.5229C>A (p.Tyr1743Ter)
c.1083C>A (p.Tyr361Ter)
c.486C>A (p.Tyr162Ter)
19g.13235657T>ACA404336731CACNA1Ac.5024A>T (p.Tyr1675Phe)
c.5030A>T (p.Tyr1677Phe)
c.443A>T
n.248A>T
c.185A>T (p.Tyr62Phe)
n.229A>T
c.5027A>T (p.Tyr1676Phe)
n.1013A>T
c.339A>T
c.5033A>T (p.Tyr1678Phe)
c.320A>T (p.Tyr107Phe)
c.5042A>T (p.Tyr1681Phe)
c.4886A>T (p.Tyr1629Phe)
c.284A>T
n.417A>T
c.428A>T (p.Tyr143Phe)
n.18A>T
c.5228A>T (p.Tyr1743Phe)
c.1082A>T (p.Tyr361Phe)
c.485A>T (p.Tyr162Phe)
19g.13235657T>CCA404336734CACNA1Ac.5024A>G (p.Tyr1675Cys)
c.5030A>G (p.Tyr1677Cys)
c.443A>G
n.248A>G
c.185A>G (p.Tyr62Cys)
n.229A>G
c.5027A>G (p.Tyr1676Cys)
n.1013A>G
c.339A>G
c.5033A>G (p.Tyr1678Cys)
c.320A>G (p.Tyr107Cys)
c.5042A>G (p.Tyr1681Cys)
c.4886A>G (p.Tyr1629Cys)
c.284A>G
n.417A>G
c.428A>G (p.Tyr143Cys)
n.18A>G
c.5228A>G (p.Tyr1743Cys)
c.1082A>G (p.Tyr361Cys)
c.485A>G (p.Tyr162Cys)
19g.13235657T>GCA404336732CACNA1Ac.5024A>C (p.Tyr1675Ser)
c.5030A>C (p.Tyr1677Ser)
c.443A>C
n.248A>C
c.185A>C (p.Tyr62Ser)
n.229A>C
c.5027A>C (p.Tyr1676Ser)
n.1013A>C
c.339A>C
c.5033A>C (p.Tyr1678Ser)
c.320A>C (p.Tyr107Ser)
c.5042A>C (p.Tyr1681Ser)
c.4886A>C (p.Tyr1629Ser)
c.284A>C
n.417A>C
c.428A>C (p.Tyr143Ser)
n.18A>C
c.5228A>C (p.Tyr1743Ser)
c.1082A>C (p.Tyr361Ser)
c.485A>C (p.Tyr162Ser)
19g.13235658A>CCA404336737CACNA1Ac.5023T>G (p.Tyr1675Asp)
c.5029T>G (p.Tyr1677Asp)
c.442T>G
n.247T>G
c.184T>G (p.Tyr62Asp)
n.228T>G
c.5026T>G (p.Tyr1676Asp)
n.1012T>G
c.338T>G
c.5032T>G (p.Tyr1678Asp)
c.319T>G (p.Tyr107Asp)
c.5041T>G (p.Tyr1681Asp)
c.4885T>G (p.Tyr1629Asp)
c.283T>G
n.416T>G
c.427T>G (p.Tyr143Asp)
n.17T>G
c.5227T>G (p.Tyr1743Asp)
c.1081T>G (p.Tyr361Asp)
c.484T>G (p.Tyr162Asp)
19g.13235658A>GCA404336738CACNA1Ac.5023T>C (p.Tyr1675His)
c.5029T>C (p.Tyr1677His)
c.442T>C
n.247T>C
c.184T>C (p.Tyr62His)
n.228T>C
c.5026T>C (p.Tyr1676His)
n.1012T>C
c.338T>C
c.5032T>C (p.Tyr1678His)
c.319T>C (p.Tyr107His)
c.5041T>C (p.Tyr1681His)
c.4885T>C (p.Tyr1629His)
c.283T>C
n.416T>C
c.427T>C (p.Tyr143His)
n.17T>C
c.5227T>C (p.Tyr1743His)
c.1081T>C (p.Tyr361His)
c.484T>C (p.Tyr162His)
19g.13235658A>TCA404336742CACNA1Ac.5023T>A (p.Tyr1675Asn)
c.5029T>A (p.Tyr1677Asn)
c.442T>A
n.247T>A
c.184T>A (p.Tyr62Asn)
n.228T>A
c.5026T>A (p.Tyr1676Asn)
n.1012T>A
c.338T>A
c.5032T>A (p.Tyr1678Asn)
c.319T>A (p.Tyr107Asn)
c.5041T>A (p.Tyr1681Asn)
c.4885T>A (p.Tyr1629Asn)
c.283T>A
n.416T>A
c.427T>A (p.Tyr143Asn)
n.17T>A
c.5227T>A (p.Tyr1743Asn)
c.1081T>A (p.Tyr361Asn)
c.484T>A (p.Tyr162Asn)
19g.13235659A>CCA505658771CACNA1Ac.5022T>G (p.Gly1674=)
c.5028T>G (p.Gly1676=)
c.441T>G
n.246T>G
c.183T>G (p.Gly61=)
n.227T>G
c.5025T>G (p.Gly1675=)
n.1011T>G
c.337T>G
c.5031T>G (p.Gly1677=)
c.318T>G (p.Gly106=)
c.5040T>G (p.Gly1680=)
c.4884T>G (p.Gly1628=)
c.282T>G
n.415T>G
c.426T>G (p.Gly142=)
n.16T>G
c.5226T>G (p.Gly1742=)
c.1080T>G (p.Gly360=)
c.483T>G (p.Gly161=)
19g.13235659A>GCA505658772CACNA1Ac.5022T>C (p.Gly1674=)
c.5028T>C (p.Gly1676=)
c.441T>C
n.246T>C
c.183T>C (p.Gly61=)
n.227T>C
c.5025T>C (p.Gly1675=)
n.1011T>C
c.337T>C
c.5031T>C (p.Gly1677=)
c.318T>C (p.Gly106=)
c.5040T>C (p.Gly1680=)
c.4884T>C (p.Gly1628=)
c.282T>C
n.415T>C
c.426T>C (p.Gly142=)
n.16T>C
c.5226T>C (p.Gly1742=)
c.1080T>C (p.Gly360=)
c.483T>C (p.Gly161=)
 gnomAD v4
19g.13235659A>TCA505658773CACNA1Ac.5022T>A (p.Gly1674=)
c.5028T>A (p.Gly1676=)
c.441T>A
n.246T>A
c.183T>A (p.Gly61=)
n.227T>A
c.5025T>A (p.Gly1675=)
n.1011T>A
c.337T>A
c.5031T>A (p.Gly1677=)
c.318T>A (p.Gly106=)
c.5040T>A (p.Gly1680=)
c.4884T>A (p.Gly1628=)
c.282T>A
n.415T>A
c.426T>A (p.Gly142=)
n.16T>A
c.5226T>A (p.Gly1742=)
c.1080T>A (p.Gly360=)
c.483T>A (p.Gly161=)
19g.13235660C>ACA404336744CACNA1Ac.5021G>T (p.Gly1674Val)
c.5027G>T (p.Gly1676Val)
c.440G>T
n.245G>T
c.182G>T (p.Gly61Val)
n.226G>T
c.5024G>T (p.Gly1675Val)
n.1010G>T
c.336G>T
c.5030G>T (p.Gly1677Val)
c.317G>T (p.Gly106Val)
c.5039G>T (p.Gly1680Val)
c.4883G>T (p.Gly1628Val)
c.281G>T
n.414G>T
c.425G>T (p.Gly142Val)
n.15G>T
c.5225G>T (p.Gly1742Val)
c.1079G>T (p.Gly360Val)
c.482G>T (p.Gly161Val)
 ClinVar dbSNP
19g.13235660C=CA2323795774CACNA1Ac.5021G= (p.Gly1674=)
c.5027G= (p.Gly1676=)
c.440G=
n.245G=
c.182G= (p.Gly61=)
n.226G=
c.5024G= (p.Gly1675=)
n.1010G=
c.336G=
c.5030G= (p.Gly1677=)
c.317G= (p.Gly106=)
c.5039G= (p.Gly1680=)
c.4883G= (p.Gly1628=)
c.281G=
n.414G=
c.425G= (p.Gly142=)
n.15G=
c.5225G= (p.Gly1742=)
c.1079G= (p.Gly360=)
c.482G= (p.Gly161=)
19g.13235660C>GCA404336747CACNA1Ac.5021G>C (p.Gly1674Ala)
c.5027G>C (p.Gly1676Ala)
c.440G>C
n.245G>C
c.182G>C (p.Gly61Ala)
n.226G>C
c.5024G>C (p.Gly1675Ala)
n.1010G>C
c.336G>C
c.5030G>C (p.Gly1677Ala)
c.317G>C (p.Gly106Ala)
c.5039G>C (p.Gly1680Ala)
c.4883G>C (p.Gly1628Ala)
c.281G>C
n.414G>C
c.425G>C (p.Gly142Ala)
n.15G>C
c.5225G>C (p.Gly1742Ala)
c.1079G>C (p.Gly360Ala)
c.482G>C (p.Gly161Ala)
19g.13235660C>TCA305517370CACNA1Ac.5021G>A (p.Gly1674Asp)
c.5027G>A (p.Gly1676Asp)
c.440G>A
n.245G>A
c.182G>A (p.Gly61Asp)
n.226G>A
c.5024G>A (p.Gly1675Asp)
n.1010G>A
c.336G>A
c.5030G>A (p.Gly1677Asp)
c.317G>A (p.Gly106Asp)
c.5039G>A (p.Gly1680Asp)
c.4883G>A (p.Gly1628Asp)
c.281G>A
n.414G>A
c.425G>A (p.Gly142Asp)
n.15G>A
c.5225G>A (p.Gly1742Asp)
c.1079G>A (p.Gly360Asp)
c.482G>A (p.Gly161Asp)
 ClinVar dbSNP
19g.13235662delCA923726183CACNA1Ac.5021del (p.Gly1674ValfsTer24)
c.5027del (p.Gly1676ValfsTer24)
c.440del
n.245del
c.182del (p.Gly61ValfsTer24)
n.226del
c.5024del (p.Gly1675ValfsTer24)
n.1010del
c.336del
c.182del (p.Gly61ValfsTer?)
c.5030del (p.Gly1677ValfsTer24)
c.317del (p.Gly106ValfsTer24)
c.5039del (p.Gly1680ValfsTer24)
c.4883del (p.Gly1628ValfsTer24)
c.281del
n.414del
c.425del (p.Gly142ValfsTer24)
n.15del
c.5225del (p.Gly1742ValfsTer24)
c.1079del (p.Gly360ValfsTer24)
c.482del (p.Gly161ValfsTer24)
 ClinVar
19g.13235661C>ACA404336751CACNA1Ac.5020G>T (p.Gly1674Cys)
c.5026G>T (p.Gly1676Cys)
c.439G>T
n.244G>T
c.181G>T (p.Gly61Cys)
n.225G>T
c.5023G>T (p.Gly1675Cys)
n.1009G>T
c.335G>T
c.5029G>T (p.Gly1677Cys)
c.316G>T (p.Gly106Cys)
c.5038G>T (p.Gly1680Cys)
c.4882G>T (p.Gly1628Cys)
c.280G>T
n.413G>T
c.424G>T (p.Gly142Cys)
n.14G>T
c.5224G>T (p.Gly1742Cys)
c.1078G>T (p.Gly360Cys)
c.481G>T (p.Gly161Cys)
19g.13235661C>GCA404336754CACNA1Ac.5020G>C (p.Gly1674Arg)
c.5026G>C (p.Gly1676Arg)
c.439G>C
n.244G>C
c.181G>C (p.Gly61Arg)
n.225G>C
c.5023G>C (p.Gly1675Arg)
n.1009G>C
c.335G>C
c.5029G>C (p.Gly1677Arg)
c.316G>C (p.Gly106Arg)
c.5038G>C (p.Gly1680Arg)
c.4882G>C (p.Gly1628Arg)
c.280G>C
n.413G>C
c.424G>C (p.Gly142Arg)
n.14G>C
c.5224G>C (p.Gly1742Arg)
c.1078G>C (p.Gly360Arg)
c.481G>C (p.Gly161Arg)
19g.13235661C>TCA404336756CACNA1Ac.5020G>A (p.Gly1674Ser)
c.5026G>A (p.Gly1676Ser)
c.439G>A
n.244G>A
c.181G>A (p.Gly61Ser)
n.225G>A
c.5023G>A (p.Gly1675Ser)
n.1009G>A
c.335G>A
c.5029G>A (p.Gly1677Ser)
c.316G>A (p.Gly106Ser)
c.5038G>A (p.Gly1680Ser)
c.4882G>A (p.Gly1628Ser)
c.280G>A
n.413G>A
c.424G>A (p.Gly142Ser)
n.14G>A
c.5224G>A (p.Gly1742Ser)
c.1078G>A (p.Gly360Ser)
c.481G>A (p.Gly161Ser)
19g.13235662C>ACA404336759CACNA1Ac.5019G>T (p.Gln1673His)
c.5025G>T (p.Gln1675His)
c.438G>T
n.243G>T
c.180G>T (p.Gln60His)
n.224G>T
c.5022G>T (p.Gln1674His)
n.1008G>T
c.334G>T
c.5028G>T (p.Gln1676His)
c.315G>T (p.Gln105His)
c.5037G>T (p.Gln1679His)
c.4881G>T (p.Gln1627His)
c.279G>T
n.412G>T
c.423G>T (p.Gln141His)
n.13G>T
c.5223G>T (p.Gln1741His)
c.1077G>T (p.Gln359His)
c.480G>T (p.Gln160His)
19g.13235662C>GCA404336760CACNA1Ac.5019G>C (p.Gln1673His)
c.5025G>C (p.Gln1675His)
c.438G>C
n.243G>C
c.180G>C (p.Gln60His)
n.224G>C
c.5022G>C (p.Gln1674His)
n.1008G>C
c.334G>C
c.5028G>C (p.Gln1676His)
c.315G>C (p.Gln105His)
c.5037G>C (p.Gln1679His)
c.4881G>C (p.Gln1627His)
c.279G>C
n.412G>C
c.423G>C (p.Gln141His)
n.13G>C
c.5223G>C (p.Gln1741His)
c.1077G>C (p.Gln359His)
c.480G>C (p.Gln160His)
 COSMIC COSMIC COSMIC COSMIC
19g.13235662C>TCA505658774CACNA1Ac.5019G>A (p.Gln1673=)
c.5025G>A (p.Gln1675=)
c.438G>A
n.243G>A
c.180G>A (p.Gln60=)
n.224G>A
c.5022G>A (p.Gln1674=)
n.1008G>A
c.334G>A
c.5028G>A (p.Gln1676=)
c.315G>A (p.Gln105=)
c.5037G>A (p.Gln1679=)
c.4881G>A (p.Gln1627=)
c.279G>A
n.412G>A
c.423G>A (p.Gln141=)
n.13G>A
c.5223G>A (p.Gln1741=)
c.1077G>A (p.Gln359=)
c.480G>A (p.Gln160=)
19g.13235663T>ACA404336767CACNA1Ac.5018A>T (p.Gln1673Leu)
c.5024A>T (p.Gln1675Leu)
c.437A>T
n.242A>T
c.179A>T (p.Gln60Leu)
n.223A>T
c.5021A>T (p.Gln1674Leu)
n.1007A>T
c.333A>T
c.5027A>T (p.Gln1676Leu)
c.314A>T (p.Gln105Leu)
c.5036A>T (p.Gln1679Leu)
c.4880A>T (p.Gln1627Leu)
c.278A>T
n.411A>T
c.422A>T (p.Gln141Leu)
n.12A>T
c.5222A>T (p.Gln1741Leu)
c.1076A>T (p.Gln359Leu)
c.479A>T (p.Gln160Leu)
19g.13235663T>CCA404336766CACNA1Ac.5018A>G (p.Gln1673Arg)
c.5024A>G (p.Gln1675Arg)
c.437A>G
n.242A>G
c.179A>G (p.Gln60Arg)
n.223A>G
c.5021A>G (p.Gln1674Arg)
n.1007A>G
c.333A>G
c.5027A>G (p.Gln1676Arg)
c.314A>G (p.Gln105Arg)
c.5036A>G (p.Gln1679Arg)
c.4880A>G (p.Gln1627Arg)
c.278A>G
n.411A>G
c.422A>G (p.Gln141Arg)
n.12A>G
c.5222A>G (p.Gln1741Arg)
c.1076A>G (p.Gln359Arg)
c.479A>G (p.Gln160Arg)
 ClinVar dbSNP
19g.13235663T>GCA404336763CACNA1Ac.5018A>C (p.Gln1673Pro)
c.5024A>C (p.Gln1675Pro)
c.437A>C
n.242A>C
c.179A>C (p.Gln60Pro)
n.223A>C
c.5021A>C (p.Gln1674Pro)
n.1007A>C
c.333A>C
c.5027A>C (p.Gln1676Pro)
c.314A>C (p.Gln105Pro)
c.5036A>C (p.Gln1679Pro)
c.4880A>C (p.Gln1627Pro)
c.278A>C
n.411A>C
c.422A>C (p.Gln141Pro)
n.12A>C
c.5222A>C (p.Gln1741Pro)
c.1076A>C (p.Gln359Pro)
c.479A>C (p.Gln160Pro)
19g.13235663T=CA2323795775CACNA1Ac.5018A= (p.Gln1673=)
c.5024A= (p.Gln1675=)
c.437A=
n.242A=
c.179A= (p.Gln60=)
n.223A=
c.5021A= (p.Gln1674=)
n.1007A=
c.333A=
c.5027A= (p.Gln1676=)
c.314A= (p.Gln105=)
c.5036A= (p.Gln1679=)
c.4880A= (p.Gln1627=)
c.278A=
n.411A=
c.422A= (p.Gln141=)
n.12A=
c.5222A= (p.Gln1741=)
c.1076A= (p.Gln359=)
c.479A= (p.Gln160=)
19g.13235664G>ACA404336771CACNA1Ac.5017C>T (p.Gln1673Ter)
c.5023C>T (p.Gln1675Ter)
c.436C>T
n.241C>T
c.178C>T (p.Gln60Ter)
n.222C>T
c.5020C>T (p.Gln1674Ter)
n.1006C>T
c.332C>T
c.5026C>T (p.Gln1676Ter)
c.313C>T (p.Gln105Ter)
c.5035C>T (p.Gln1679Ter)
c.4879C>T (p.Gln1627Ter)
c.277C>T
n.410C>T
c.421C>T (p.Gln141Ter)
n.11C>T
c.5221C>T (p.Gln1741Ter)
c.1075C>T (p.Gln359Ter)
c.478C>T (p.Gln160Ter)
19g.13235664G>CCA404336773CACNA1Ac.5017C>G (p.Gln1673Glu)
c.5023C>G (p.Gln1675Glu)
c.436C>G
n.241C>G
c.178C>G (p.Gln60Glu)
n.222C>G
c.5020C>G (p.Gln1674Glu)
n.1006C>G
c.332C>G
c.5026C>G (p.Gln1676Glu)
c.313C>G (p.Gln105Glu)
c.5035C>G (p.Gln1679Glu)
c.4879C>G (p.Gln1627Glu)
c.277C>G
n.410C>G
c.421C>G (p.Gln141Glu)
n.11C>G
c.5221C>G (p.Gln1741Glu)
c.1075C>G (p.Gln359Glu)
c.478C>G (p.Gln160Glu)
19g.13235664G>TCA404336775CACNA1Ac.5017C>A (p.Gln1673Lys)
c.5023C>A (p.Gln1675Lys)
c.436C>A
n.241C>A
c.178C>A (p.Gln60Lys)
n.222C>A
c.5020C>A (p.Gln1674Lys)
n.1006C>A
c.332C>A
c.5026C>A (p.Gln1676Lys)
c.313C>A (p.Gln105Lys)
c.5035C>A (p.Gln1679Lys)
c.4879C>A (p.Gln1627Lys)
c.277C>A
n.410C>A
c.421C>A (p.Gln141Lys)
n.11C>A
c.5221C>A (p.Gln1741Lys)
c.1075C>A (p.Gln359Lys)
c.478C>A (p.Gln160Lys)
 gnomAD v4
19g.13235665A>CCA505658775CACNA1Ac.5016T>G (p.Arg1672=)
c.5022T>G (p.Arg1674=)
c.435T>G
n.240T>G
c.177T>G (p.Arg59=)
n.221T>G
c.5019T>G (p.Arg1673=)
n.1005T>G
c.331T>G
c.5025T>G (p.Arg1675=)
c.312T>G (p.Arg104=)
c.5034T>G (p.Arg1678=)
c.4878T>G (p.Arg1626=)
c.276T>G
n.409T>G
c.420T>G (p.Arg140=)
n.10T>G
c.5220T>G (p.Arg1740=)
c.1074T>G (p.Arg358=)
c.477T>G (p.Arg159=)
19g.13235665A>GCA505658776CACNA1Ac.5016T>C (p.Arg1672=)
c.5022T>C (p.Arg1674=)
c.435T>C
n.240T>C
c.177T>C (p.Arg59=)
n.221T>C
c.5019T>C (p.Arg1673=)
n.1005T>C
c.331T>C
c.5025T>C (p.Arg1675=)
c.312T>C (p.Arg104=)
c.5034T>C (p.Arg1678=)
c.4878T>C (p.Arg1626=)
c.276T>C
n.409T>C
c.420T>C (p.Arg140=)
n.10T>C
c.5220T>C (p.Arg1740=)
c.1074T>C (p.Arg358=)
c.477T>C (p.Arg159=)
 COSMIC COSMIC COSMIC COSMIC
19g.13235665A>TCA505658777CACNA1Ac.5016T>A (p.Arg1672=)
c.5022T>A (p.Arg1674=)
c.435T>A
n.240T>A
c.177T>A (p.Arg59=)
n.221T>A
c.5019T>A (p.Arg1673=)
n.1005T>A
c.331T>A
c.5025T>A (p.Arg1675=)
c.312T>A (p.Arg104=)
c.5034T>A (p.Arg1678=)
c.4878T>A (p.Arg1626=)
c.276T>A
n.409T>A
c.420T>A (p.Arg140=)
n.10T>A
c.5220T>A (p.Arg1740=)
c.1074T>A (p.Arg358=)
c.477T>A (p.Arg159=)
19g.13235666C>ACA404336780CACNA1Ac.5015G>T (p.Arg1672Leu)
c.5021G>T (p.Arg1674Leu)
c.434G>T
n.239G>T
c.176G>T (p.Arg59Leu)
n.220G>T
c.5018G>T (p.Arg1673Leu)
n.1004G>T
c.330G>T
c.5024G>T (p.Arg1675Leu)
c.311G>T (p.Arg104Leu)
c.5033G>T (p.Arg1678Leu)
c.4877G>T (p.Arg1626Leu)
c.275G>T
n.408G>T
c.419G>T (p.Arg140Leu)
n.9G>T
c.5219G>T (p.Arg1740Leu)
c.1073G>T (p.Arg358Leu)
c.476G>T (p.Arg159Leu)
19g.13235666C=CA2323795776CACNA1Ac.5015G= (p.Arg1672=)
c.5021G= (p.Arg1674=)
c.434G=
n.239G=
c.176G= (p.Arg59=)
n.220G=
c.5018G= (p.Arg1673=)
n.1004G=
c.330G=
c.5024G= (p.Arg1675=)
c.311G= (p.Arg104=)
c.5033G= (p.Arg1678=)
c.4877G= (p.Arg1626=)
c.275G=
n.408G=
c.419G= (p.Arg140=)
n.9G=
c.5219G= (p.Arg1740=)
c.1073G= (p.Arg358=)
c.476G= (p.Arg159=)
19g.13235666C>GCA16044236CACNA1Ac.5015G>C (p.Arg1672Pro)
c.5021G>C (p.Arg1674Pro)
c.434G>C
n.239G>C
c.176G>C (p.Arg59Pro)
n.220G>C
c.5018G>C (p.Arg1673Pro)
n.1004G>C
c.330G>C
c.5024G>C (p.Arg1675Pro)
c.311G>C (p.Arg104Pro)
c.5033G>C (p.Arg1678Pro)
c.4877G>C (p.Arg1626Pro)
c.275G>C
n.408G>C
c.419G>C (p.Arg140Pro)
n.9G>C
c.5219G>C (p.Arg1740Pro)
c.1073G>C (p.Arg358Pro)
c.476G>C (p.Arg159Pro)
 ClinVar dbSNP
19g.13235666C>TCA404336785CACNA1Ac.5015G>A (p.Arg1672His)
c.5021G>A (p.Arg1674His)
c.434G>A
n.239G>A
c.176G>A (p.Arg59His)
n.220G>A
c.5018G>A (p.Arg1673His)
n.1004G>A
c.330G>A
c.5024G>A (p.Arg1675His)
c.311G>A (p.Arg104His)
c.5033G>A (p.Arg1678His)
c.4877G>A (p.Arg1626His)
c.275G>A
n.408G>A
c.419G>A (p.Arg140His)
n.9G>A
c.5219G>A (p.Arg1740His)
c.1073G>A (p.Arg358His)
c.476G>A (p.Arg159His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13235666dupCA2573156109CACNA1Ac.5015dup (p.Gln1673SerfsTer?)
c.5021dup (p.Gln1675SerfsTer?)
c.434dup
n.239dup
c.176dup (p.Gln60SerfsTer?)
n.220dup
c.5018dup (p.Gln1674SerfsTer?)
n.1004dup
c.330dup
c.176dup (p.Gln60SerfsTer21)
c.5024dup (p.Gln1676SerfsTer?)
c.311dup (p.Gln105SerfsTer?)
c.5033dup (p.Gln1679SerfsTer?)
c.4877dup (p.Gln1627SerfsTer?)
c.275dup
n.408dup
c.419dup (p.Gln141SerfsTer?)
n.9dup
c.5219dup (p.Gln1741SerfsTer?)
c.1073dup (p.Gln359SerfsTer?)
c.476dup (p.Gln160SerfsTer?)
 ClinVar dbSNP
19g.13235667G>ACA244130CACNA1Ac.5014C>T (p.Arg1672Cys)
c.5020C>T (p.Arg1674Cys)
c.433C>T
n.238C>T
c.175C>T (p.Arg59Cys)
n.219C>T
c.5017C>T (p.Arg1673Cys)
n.1003C>T
c.329C>T
c.5023C>T (p.Arg1675Cys)
c.310C>T (p.Arg104Cys)
c.5032C>T (p.Arg1678Cys)
c.4876C>T (p.Arg1626Cys)
c.274C>T
n.407C>T
c.418C>T (p.Arg140Cys)
n.8C>T
c.5218C>T (p.Arg1740Cys)
c.1072C>T (p.Arg358Cys)
c.475C>T (p.Arg159Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13235667G>CCA404336796CACNA1Ac.5014C>G (p.Arg1672Gly)
c.5020C>G (p.Arg1674Gly)
c.433C>G
n.238C>G
c.175C>G (p.Arg59Gly)
n.219C>G
c.5017C>G (p.Arg1673Gly)
n.1003C>G
c.329C>G
c.5023C>G (p.Arg1675Gly)
c.310C>G (p.Arg104Gly)
c.5032C>G (p.Arg1678Gly)
c.4876C>G (p.Arg1626Gly)
c.274C>G
n.407C>G
c.418C>G (p.Arg140Gly)
n.8C>G
c.5218C>G (p.Arg1740Gly)
c.1072C>G (p.Arg358Gly)
c.475C>G (p.Arg159Gly)
19g.13235667G=CA2323795777CACNA1Ac.5014C= (p.Arg1672=)
c.5020C= (p.Arg1674=)
c.433C=
n.238C=
c.175C= (p.Arg59=)
n.219C=
c.5017C= (p.Arg1673=)
n.1003C=
c.329C=
c.5023C= (p.Arg1675=)
c.310C= (p.Arg104=)
c.5032C= (p.Arg1678=)
c.4876C= (p.Arg1626=)
c.274C=
n.407C=
c.418C= (p.Arg140=)
n.8C=
c.5218C= (p.Arg1740=)
c.1072C= (p.Arg358=)
c.475C= (p.Arg159=)
19g.13235667G>TCA404336798CACNA1Ac.5014C>A (p.Arg1672Ser)
c.5020C>A (p.Arg1674Ser)
c.433C>A
n.238C>A
c.175C>A (p.Arg59Ser)
n.219C>A
c.5017C>A (p.Arg1673Ser)
n.1003C>A
c.329C>A
c.5023C>A (p.Arg1675Ser)
c.310C>A (p.Arg104Ser)
c.5032C>A (p.Arg1678Ser)
c.4876C>A (p.Arg1626Ser)
c.274C>A
n.407C>A
c.418C>A (p.Arg140Ser)
n.8C>A
c.5218C>A (p.Arg1740Ser)
c.1072C>A (p.Arg358Ser)
c.475C>A (p.Arg159Ser)
 COSMIC COSMIC COSMIC COSMIC
19g.13235668G>ACA505658779CACNA1Ac.5013C>T (p.Leu1671=)
c.5019C>T (p.Leu1673=)
c.432C>T
n.237C>T
c.174C>T (p.Leu58=)
n.218C>T
c.5016C>T (p.Leu1672=)
n.1002C>T
c.328C>T
c.5022C>T (p.Leu1674=)
c.309C>T (p.Leu103=)
c.5031C>T (p.Leu1677=)
c.4875C>T (p.Leu1625=)
c.273C>T
n.406C>T
c.417C>T (p.Leu139=)
n.7C>T
c.5217C>T (p.Leu1739=)
c.1071C>T (p.Leu357=)
c.474C>T (p.Leu158=)
19g.13235668G>CCA505658780CACNA1Ac.5013C>G (p.Leu1671=)
c.5019C>G (p.Leu1673=)
c.432C>G
n.237C>G
c.174C>G (p.Leu58=)
n.218C>G
c.5016C>G (p.Leu1672=)
n.1002C>G
c.328C>G
c.5022C>G (p.Leu1674=)
c.309C>G (p.Leu103=)
c.5031C>G (p.Leu1677=)
c.4875C>G (p.Leu1625=)
c.273C>G
n.406C>G
c.417C>G (p.Leu139=)
n.7C>G
c.5217C>G (p.Leu1739=)
c.1071C>G (p.Leu357=)
c.474C>G (p.Leu158=)
19g.13235668G>TCA505658781CACNA1Ac.5013C>A (p.Leu1671=)
c.5019C>A (p.Leu1673=)
c.432C>A
n.237C>A
c.174C>A (p.Leu58=)
n.218C>A
c.5016C>A (p.Leu1672=)
n.1002C>A
c.328C>A
c.5022C>A (p.Leu1674=)
c.309C>A (p.Leu103=)
c.5031C>A (p.Leu1677=)
c.4875C>A (p.Leu1625=)
c.273C>A
n.406C>A
c.417C>A (p.Leu139=)
n.7C>A
c.5217C>A (p.Leu1739=)
c.1071C>A (p.Leu357=)
c.474C>A (p.Leu158=)
19g.13235669A>CCA404336801CACNA1Ac.5012T>G (p.Leu1671Arg)
c.5018T>G (p.Leu1673Arg)
c.431T>G
n.236T>G
c.173T>G (p.Leu58Arg)
n.217T>G
c.5015T>G (p.Leu1672Arg)
n.1001T>G
c.327T>G
c.5021T>G (p.Leu1674Arg)
c.308T>G (p.Leu103Arg)
c.5030T>G (p.Leu1677Arg)
c.4874T>G (p.Leu1625Arg)
c.272T>G
n.405T>G
c.416T>G (p.Leu139Arg)
n.6T>G
c.5216T>G (p.Leu1739Arg)
c.1070T>G (p.Leu357Arg)
c.473T>G (p.Leu158Arg)
19g.13235669A>GCA404336804CACNA1Ac.5012T>C (p.Leu1671Pro)
c.5018T>C (p.Leu1673Pro)
c.431T>C
n.236T>C
c.173T>C (p.Leu58Pro)
n.217T>C
c.5015T>C (p.Leu1672Pro)
n.1001T>C
c.327T>C
c.5021T>C (p.Leu1674Pro)
c.308T>C (p.Leu103Pro)
c.5030T>C (p.Leu1677Pro)
c.4874T>C (p.Leu1625Pro)
c.272T>C
n.405T>C
c.416T>C (p.Leu139Pro)
n.6T>C
c.5216T>C (p.Leu1739Pro)
c.1070T>C (p.Leu357Pro)
c.473T>C (p.Leu158Pro)
19g.13235669A>TCA404336807CACNA1Ac.5012T>A (p.Leu1671His)
c.5018T>A (p.Leu1673His)
c.431T>A
n.236T>A
c.173T>A (p.Leu58His)
n.217T>A
c.5015T>A (p.Leu1672His)
n.1001T>A
c.327T>A
c.5021T>A (p.Leu1674His)
c.308T>A (p.Leu103His)
c.5030T>A (p.Leu1677His)
c.4874T>A (p.Leu1625His)
c.272T>A
n.405T>A
c.416T>A (p.Leu139His)
n.6T>A
c.5216T>A (p.Leu1739His)
c.1070T>A (p.Leu357His)
c.473T>A (p.Leu158His)
19g.13235670G>ACA404336813CACNA1Ac.5011C>T (p.Leu1671Phe)
c.5017C>T (p.Leu1673Phe)
c.430C>T
n.235C>T
c.172C>T (p.Leu58Phe)
n.216C>T
c.5014C>T (p.Leu1672Phe)
n.1000C>T
c.326C>T
c.5020C>T (p.Leu1674Phe)
c.307C>T (p.Leu103Phe)
c.5029C>T (p.Leu1677Phe)
c.4873C>T (p.Leu1625Phe)
c.271C>T
n.404C>T
c.415C>T (p.Leu139Phe)
n.5C>T
c.5215C>T (p.Leu1739Phe)
c.1069C>T (p.Leu357Phe)
c.472C>T (p.Leu158Phe)
19g.13235670G>CCA404336815CACNA1Ac.5011C>G (p.Leu1671Val)
c.5017C>G (p.Leu1673Val)
c.430C>G
n.235C>G
c.172C>G (p.Leu58Val)
n.216C>G
c.5014C>G (p.Leu1672Val)
n.1000C>G
c.326C>G
c.5020C>G (p.Leu1674Val)
c.307C>G (p.Leu103Val)
c.5029C>G (p.Leu1677Val)
c.4873C>G (p.Leu1625Val)
c.271C>G
n.404C>G
c.415C>G (p.Leu139Val)
n.5C>G
c.5215C>G (p.Leu1739Val)
c.1069C>G (p.Leu357Val)
c.472C>G (p.Leu158Val)
19g.13235670G>TCA404336810CACNA1Ac.5011C>A (p.Leu1671Ile)
c.5017C>A (p.Leu1673Ile)
c.430C>A
n.235C>A
c.172C>A (p.Leu58Ile)
n.216C>A
c.5014C>A (p.Leu1672Ile)
n.1000C>A
c.326C>A
c.5020C>A (p.Leu1674Ile)
c.307C>A (p.Leu103Ile)
c.5029C>A (p.Leu1677Ile)
c.4873C>A (p.Leu1625Ile)
c.271C>A
n.404C>A
c.415C>A (p.Leu139Ile)
n.5C>A
c.5215C>A (p.Leu1739Ile)
c.1069C>A (p.Leu357Ile)
c.472C>A (p.Leu158Ile)
19g.13235671A>CCA505658782CACNA1Ac.5010T>G (p.Leu1670=)
c.5016T>G (p.Leu1672=)
c.429T>G
n.234T>G
c.171T>G (p.Leu57=)
n.215T>G
c.5013T>G (p.Leu1671=)
n.999T>G
c.325T>G
c.5019T>G (p.Leu1673=)
c.306T>G (p.Leu102=)
c.5028T>G (p.Leu1676=)
c.4872T>G (p.Leu1624=)
c.270T>G
n.403T>G
c.414T>G (p.Leu138=)
n.4T>G
c.5214T>G (p.Leu1738=)
c.1068T>G (p.Leu356=)
c.471T>G (p.Leu157=)
19g.13235671A>GCA505658783CACNA1Ac.5010T>C (p.Leu1670=)
c.5016T>C (p.Leu1672=)
c.429T>C
n.234T>C
c.171T>C (p.Leu57=)
n.215T>C
c.5013T>C (p.Leu1671=)
n.999T>C
c.325T>C
c.5019T>C (p.Leu1673=)
c.306T>C (p.Leu102=)
c.5028T>C (p.Leu1676=)
c.4872T>C (p.Leu1624=)
c.270T>C
n.403T>C
c.414T>C (p.Leu138=)
n.4T>C
c.5214T>C (p.Leu1738=)
c.1068T>C (p.Leu356=)
c.471T>C (p.Leu157=)
19g.13235671A>TCA505658784CACNA1Ac.5010T>A (p.Leu1670=)
c.5016T>A (p.Leu1672=)
c.429T>A
n.234T>A
c.171T>A (p.Leu57=)
n.215T>A
c.5013T>A (p.Leu1671=)
n.999T>A
c.325T>A
c.5019T>A (p.Leu1673=)
c.306T>A (p.Leu102=)
c.5028T>A (p.Leu1676=)
c.4872T>A (p.Leu1624=)
c.270T>A
n.403T>A
c.414T>A (p.Leu138=)
n.4T>A
c.5214T>A (p.Leu1738=)
c.1068T>A (p.Leu356=)
c.471T>A (p.Leu157=)
 gnomAD v4
19g.13235672A>CCA404336816CACNA1Ac.5009T>G (p.Leu1670Arg)
c.5015T>G (p.Leu1672Arg)
c.428T>G
n.233T>G
c.170T>G (p.Leu57Arg)
n.214T>G
c.5012T>G (p.Leu1671Arg)
n.998T>G
c.324T>G
c.5018T>G (p.Leu1673Arg)
c.305T>G (p.Leu102Arg)
c.5027T>G (p.Leu1676Arg)
c.4871T>G (p.Leu1624Arg)
c.269T>G
n.402T>G
c.413T>G (p.Leu138Arg)
n.3T>G
c.5213T>G (p.Leu1738Arg)
c.1067T>G (p.Leu356Arg)
c.470T>G (p.Leu157Arg)
 ClinVar
19g.13235672A>GCA404336819CACNA1Ac.5009T>C (p.Leu1670Pro)
c.5015T>C (p.Leu1672Pro)
c.428T>C
n.233T>C
c.170T>C (p.Leu57Pro)
n.214T>C
c.5012T>C (p.Leu1671Pro)
n.998T>C
c.324T>C
c.5018T>C (p.Leu1673Pro)
c.305T>C (p.Leu102Pro)
c.5027T>C (p.Leu1676Pro)
c.4871T>C (p.Leu1624Pro)
c.269T>C
n.402T>C
c.413T>C (p.Leu138Pro)
n.3T>C
c.5213T>C (p.Leu1738Pro)
c.1067T>C (p.Leu356Pro)
c.470T>C (p.Leu157Pro)
19g.13235672A>TCA404336822CACNA1Ac.5009T>A (p.Leu1670His)
c.5015T>A (p.Leu1672His)
c.428T>A
n.233T>A
c.170T>A (p.Leu57His)
n.214T>A
c.5012T>A (p.Leu1671His)
n.998T>A
c.324T>A
c.5018T>A (p.Leu1673His)
c.305T>A (p.Leu102His)
c.5027T>A (p.Leu1676His)
c.4871T>A (p.Leu1624His)
c.269T>A
n.402T>A
c.413T>A (p.Leu138His)
n.3T>A
c.5213T>A (p.Leu1738His)
c.1067T>A (p.Leu356His)
c.470T>A (p.Leu157His)
19g.13235673G>ACA404336824CACNA1Ac.5008C>T (p.Leu1670Phe)
c.5014C>T (p.Leu1672Phe)
c.427C>T
n.232C>T
c.169C>T (p.Leu57Phe)
n.213C>T
c.5011C>T (p.Leu1671Phe)
n.997C>T
c.323C>T
c.5017C>T (p.Leu1673Phe)
c.304C>T (p.Leu102Phe)
c.5026C>T (p.Leu1676Phe)
c.4870C>T (p.Leu1624Phe)
c.268C>T
n.401C>T
c.412C>T (p.Leu138Phe)
n.2C>T
c.5212C>T (p.Leu1738Phe)
c.1066C>T (p.Leu356Phe)
c.469C>T (p.Leu157Phe)
19g.13235673G>CCA404336825CACNA1Ac.5008C>G (p.Leu1670Val)
c.5014C>G (p.Leu1672Val)
c.427C>G
n.232C>G
c.169C>G (p.Leu57Val)
n.213C>G
c.5011C>G (p.Leu1671Val)
n.997C>G
c.323C>G
c.5017C>G (p.Leu1673Val)
c.304C>G (p.Leu102Val)
c.5026C>G (p.Leu1676Val)
c.4870C>G (p.Leu1624Val)
c.268C>G
n.401C>G
c.412C>G (p.Leu138Val)
n.2C>G
c.5212C>G (p.Leu1738Val)
c.1066C>G (p.Leu356Val)
c.469C>G (p.Leu157Val)
19g.13235673G=CA2323795778CACNA1Ac.5008C= (p.Leu1670=)
c.5014C= (p.Leu1672=)
c.427C=
n.232C=
c.169C= (p.Leu57=)
n.213C=
c.5011C= (p.Leu1671=)
n.997C=
c.323C=
c.5017C= (p.Leu1673=)
c.304C= (p.Leu102=)
c.5026C= (p.Leu1676=)
c.4870C= (p.Leu1624=)
c.268C=
n.401C=
c.412C= (p.Leu138=)
n.2C=
c.5212C= (p.Leu1738=)
c.1066C= (p.Leu356=)
c.469C= (p.Leu157=)
19g.13235673G>TCA404336829CACNA1Ac.5008C>A (p.Leu1670Ile)
c.5014C>A (p.Leu1672Ile)
c.427C>A
n.232C>A
c.169C>A (p.Leu57Ile)
n.213C>A
c.5011C>A (p.Leu1671Ile)
n.997C>A
c.323C>A
c.5017C>A (p.Leu1673Ile)
c.304C>A (p.Leu102Ile)
c.5026C>A (p.Leu1676Ile)
c.4870C>A (p.Leu1624Ile)
c.268C>A
n.401C>A
c.412C>A (p.Leu138Ile)
n.2C>A
c.5212C>A (p.Leu1738Ile)
c.1066C>A (p.Leu356Ile)
c.469C>A (p.Leu157Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.13235674T>ACA404336837CACNA1Ac.5007A>T (p.Lys1669Asn)
c.5013A>T (p.Lys1671Asn)
c.426A>T
n.231A>T
c.168A>T (p.Lys56Asn)
n.212A>T
c.5010A>T (p.Lys1670Asn)
n.996A>T
c.322A>T
c.5016A>T (p.Lys1672Asn)
c.303A>T (p.Lys101Asn)
c.5025A>T (p.Lys1675Asn)
c.4869A>T (p.Lys1623Asn)
c.267A>T
n.400A>T
c.411A>T (p.Lys137Asn)
n.1A>T
c.5211A>T (p.Lys1737Asn)
c.1065A>T (p.Lys355Asn)
c.468A>T (p.Lys156Asn)
19g.13235674T>CCA505658785CACNA1Ac.5007A>G (p.Lys1669=)
c.5013A>G (p.Lys1671=)
c.426A>G
n.231A>G
c.168A>G (p.Lys56=)
n.212A>G
c.5010A>G (p.Lys1670=)
n.996A>G
c.322A>G
c.5016A>G (p.Lys1672=)
c.303A>G (p.Lys101=)
c.5025A>G (p.Lys1675=)
c.4869A>G (p.Lys1623=)
c.267A>G
n.400A>G
c.411A>G (p.Lys137=)
n.1A>G
c.5211A>G (p.Lys1737=)
c.1065A>G (p.Lys355=)
c.468A>G (p.Lys156=)
19g.13235674T>GCA404336832CACNA1Ac.5007A>C (p.Lys1669Asn)
c.5013A>C (p.Lys1671Asn)
c.426A>C
n.231A>C
c.168A>C (p.Lys56Asn)
n.212A>C
c.5010A>C (p.Lys1670Asn)
n.996A>C
c.322A>C
c.5016A>C (p.Lys1672Asn)
c.303A>C (p.Lys101Asn)
c.5025A>C (p.Lys1675Asn)
c.4869A>C (p.Lys1623Asn)
c.267A>C
n.400A>C
c.411A>C (p.Lys137Asn)
n.1A>C
c.5211A>C (p.Lys1737Asn)
c.1065A>C (p.Lys355Asn)
c.468A>C (p.Lys156Asn)
19g.13235675T>ACA404336842CACNA1Ac.5006A>T (p.Lys1669Ile)
c.5012A>T (p.Lys1671Ile)
c.425A>T
n.230A>T
c.167A>T (p.Lys56Ile)
n.211A>T
c.5009A>T (p.Lys1670Ile)
n.995A>T
c.321A>T
c.5015A>T (p.Lys1672Ile)
c.302A>T (p.Lys101Ile)
c.5024A>T (p.Lys1675Ile)
c.4868A>T (p.Lys1623Ile)
c.266A>T
n.399A>T
c.410A>T (p.Lys137Ile)
c.5210A>T (p.Lys1737Ile)
c.1064A>T (p.Lys355Ile)
c.467A>T (p.Lys156Ile)
19g.13235675T>CCA404336845CACNA1Ac.5006A>G (p.Lys1669Arg)
c.5012A>G (p.Lys1671Arg)
c.425A>G
n.230A>G
c.167A>G (p.Lys56Arg)
n.211A>G
c.5009A>G (p.Lys1670Arg)
n.995A>G
c.321A>G
c.5015A>G (p.Lys1672Arg)
c.302A>G (p.Lys101Arg)
c.5024A>G (p.Lys1675Arg)
c.4868A>G (p.Lys1623Arg)
c.266A>G
n.399A>G
c.410A>G (p.Lys137Arg)
c.5210A>G (p.Lys1737Arg)
c.1064A>G (p.Lys355Arg)
c.467A>G (p.Lys156Arg)
19g.13235675T>GCA404336848CACNA1Ac.5006A>C (p.Lys1669Thr)
c.5012A>C (p.Lys1671Thr)
c.425A>C
n.230A>C
c.167A>C (p.Lys56Thr)
n.211A>C
c.5009A>C (p.Lys1670Thr)
n.995A>C
c.321A>C
c.5015A>C (p.Lys1672Thr)
c.302A>C (p.Lys101Thr)
c.5024A>C (p.Lys1675Thr)
c.4868A>C (p.Lys1623Thr)
c.266A>C
n.399A>C
c.410A>C (p.Lys137Thr)
c.5210A>C (p.Lys1737Thr)
c.1064A>C (p.Lys355Thr)
c.467A>C (p.Lys156Thr)
19g.13235676T>ACA404336853CACNA1Ac.5005A>T (p.Lys1669Ter)
c.5011A>T (p.Lys1671Ter)
c.424A>T
n.229A>T
c.166A>T (p.Lys56Ter)
n.210A>T
c.5008A>T (p.Lys1670Ter)
n.994A>T
c.320A>T
c.5014A>T (p.Lys1672Ter)
c.301A>T (p.Lys101Ter)
c.5023A>T (p.Lys1675Ter)
c.4867A>T (p.Lys1623Ter)
c.265A>T
n.398A>T
c.409A>T (p.Lys137Ter)
c.5209A>T (p.Lys1737Ter)
c.1063A>T (p.Lys355Ter)
c.466A>T (p.Lys156Ter)
19g.13235676T>CCA404336858CACNA1Ac.5005A>G (p.Lys1669Glu)
c.5011A>G (p.Lys1671Glu)
c.424A>G
n.229A>G
c.166A>G (p.Lys56Glu)
n.210A>G
c.5008A>G (p.Lys1670Glu)
n.994A>G
c.320A>G
c.5014A>G (p.Lys1672Glu)
c.301A>G (p.Lys101Glu)
c.5023A>G (p.Lys1675Glu)
c.4867A>G (p.Lys1623Glu)
c.265A>G
n.398A>G
c.409A>G (p.Lys137Glu)
c.5209A>G (p.Lys1737Glu)
c.1063A>G (p.Lys355Glu)
c.466A>G (p.Lys156Glu)
19g.13235676T>GCA404336860CACNA1Ac.5005A>C (p.Lys1669Gln)
c.5011A>C (p.Lys1671Gln)
c.424A>C
n.229A>C
c.166A>C (p.Lys56Gln)
n.210A>C
c.5008A>C (p.Lys1670Gln)
n.994A>C
c.320A>C
c.5014A>C (p.Lys1672Gln)
c.301A>C (p.Lys101Gln)
c.5023A>C (p.Lys1675Gln)
c.4867A>C (p.Lys1623Gln)
c.265A>C
n.398A>C
c.409A>C (p.Lys137Gln)
c.5209A>C (p.Lys1737Gln)
c.1063A>C (p.Lys355Gln)
c.466A>C (p.Lys156Gln)
19g.13235677G>ACA505658786CACNA1Ac.5004C>T (p.Ile1668=)
c.5010C>T (p.Ile1670=)
c.423C>T
n.228C>T
c.165C>T (p.Ile55=)
n.209C>T
c.5007C>T (p.Ile1669=)
n.993C>T
c.319C>T
c.5013C>T (p.Ile1671=)
c.300C>T (p.Ile100=)
c.5022C>T (p.Ile1674=)
c.4866C>T (p.Ile1622=)
c.264C>T
n.397C>T
c.408C>T (p.Ile136=)
c.5208C>T (p.Ile1736=)
c.1062C>T (p.Ile354=)
c.465C>T (p.Ile155=)
19g.13235677G>CCA404336864CACNA1Ac.5004C>G (p.Ile1668Met)
c.5010C>G (p.Ile1670Met)
c.423C>G
n.228C>G
c.165C>G (p.Ile55Met)
n.209C>G
c.5007C>G (p.Ile1669Met)
n.993C>G
c.319C>G
c.5013C>G (p.Ile1671Met)
c.300C>G (p.Ile100Met)
c.5022C>G (p.Ile1674Met)
c.4866C>G (p.Ile1622Met)
c.264C>G
n.397C>G
c.408C>G (p.Ile136Met)
c.5208C>G (p.Ile1736Met)
c.1062C>G (p.Ile354Met)
c.465C>G (p.Ile155Met)
19g.13235677G>TCA505658787CACNA1Ac.5004C>A (p.Ile1668=)
c.5010C>A (p.Ile1670=)
c.423C>A
n.228C>A
c.165C>A (p.Ile55=)
n.209C>A
c.5007C>A (p.Ile1669=)
n.993C>A
c.319C>A
c.5013C>A (p.Ile1671=)
c.300C>A (p.Ile100=)
c.5022C>A (p.Ile1674=)
c.4866C>A (p.Ile1622=)
c.264C>A
n.397C>A
c.408C>A (p.Ile136=)
c.5208C>A (p.Ile1736=)
c.1062C>A (p.Ile354=)
c.465C>A (p.Ile155=)
19g.13235678A>CCA404336868CACNA1Ac.5003T>G (p.Ile1668Ser)
c.5009T>G (p.Ile1670Ser)
c.422T>G
n.227T>G
c.164T>G (p.Ile55Ser)
n.208T>G
c.5006T>G (p.Ile1669Ser)
n.992T>G
c.318T>G
c.5012T>G (p.Ile1671Ser)
c.299T>G (p.Ile100Ser)
c.5021T>G (p.Ile1674Ser)
c.4865T>G (p.Ile1622Ser)
c.263T>G
n.396T>G
c.407T>G (p.Ile136Ser)
c.5207T>G (p.Ile1736Ser)
c.1061T>G (p.Ile354Ser)
c.464T>G (p.Ile155Ser)
19g.13235678A>GCA404336875CACNA1Ac.5003T>C (p.Ile1668Thr)
c.5009T>C (p.Ile1670Thr)
c.422T>C
n.227T>C
c.164T>C (p.Ile55Thr)
n.208T>C
c.5006T>C (p.Ile1669Thr)
n.992T>C
c.318T>C
c.5012T>C (p.Ile1671Thr)
c.299T>C (p.Ile100Thr)
c.5021T>C (p.Ile1674Thr)
c.4865T>C (p.Ile1622Thr)
c.263T>C
n.396T>C
c.407T>C (p.Ile136Thr)
c.5207T>C (p.Ile1736Thr)
c.1061T>C (p.Ile354Thr)
c.464T>C (p.Ile155Thr)
19g.13235678A>TCA404336870CACNA1Ac.5003T>A (p.Ile1668Asn)
c.5009T>A (p.Ile1670Asn)
c.422T>A
n.227T>A
c.164T>A (p.Ile55Asn)
n.208T>A
c.5006T>A (p.Ile1669Asn)
n.992T>A
c.318T>A
c.5012T>A (p.Ile1671Asn)
c.299T>A (p.Ile100Asn)
c.5021T>A (p.Ile1674Asn)
c.4865T>A (p.Ile1622Asn)
c.263T>A
n.396T>A
c.407T>A (p.Ile136Asn)
c.5207T>A (p.Ile1736Asn)
c.1061T>A (p.Ile354Asn)
c.464T>A (p.Ile155Asn)
19g.13235679T>ACA404336877CACNA1Ac.5002A>T (p.Ile1668Phe)
c.5008A>T (p.Ile1670Phe)
c.421A>T
n.226A>T
c.163A>T (p.Ile55Phe)
n.207A>T
c.5005A>T (p.Ile1669Phe)
n.991A>T
c.317A>T
c.5011A>T (p.Ile1671Phe)
c.298A>T (p.Ile100Phe)
c.5020A>T (p.Ile1674Phe)
c.4864A>T (p.Ile1622Phe)
c.262A>T
n.395A>T
c.406A>T (p.Ile136Phe)
c.5206A>T (p.Ile1736Phe)
c.1060A>T (p.Ile354Phe)
c.463A>T (p.Ile155Phe)
19g.13235679T>CCA9239856CACNA1Ac.5002A>G (p.Ile1668Val)
c.5008A>G (p.Ile1670Val)
c.421A>G
n.226A>G
c.163A>G (p.Ile55Val)
n.207A>G
c.5005A>G (p.Ile1669Val)
n.991A>G
c.317A>G
c.5011A>G (p.Ile1671Val)
c.298A>G (p.Ile100Val)
c.5020A>G (p.Ile1674Val)
c.4864A>G (p.Ile1622Val)
c.262A>G
n.395A>G
c.406A>G (p.Ile136Val)
c.5206A>G (p.Ile1736Val)
c.1060A>G (p.Ile354Val)
c.463A>G (p.Ile155Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13235679T>GCA404336881CACNA1Ac.5002A>C (p.Ile1668Leu)
c.5008A>C (p.Ile1670Leu)
c.421A>C
n.226A>C
c.163A>C (p.Ile55Leu)
n.207A>C
c.5005A>C (p.Ile1669Leu)
n.991A>C
c.317A>C
c.5011A>C (p.Ile1671Leu)
c.298A>C (p.Ile100Leu)
c.5020A>C (p.Ile1674Leu)
c.4864A>C (p.Ile1622Leu)
c.262A>C
n.395A>C
c.406A>C (p.Ile136Leu)
c.5206A>C (p.Ile1736Leu)
c.1060A>C (p.Ile354Leu)
c.463A>C (p.Ile155Leu)
19g.13235679T=CA2323795779CACNA1Ac.5002A= (p.Ile1668=)
c.5008A= (p.Ile1670=)
c.421A=
n.226A=
c.163A= (p.Ile55=)
n.207A=
c.5005A= (p.Ile1669=)
n.991A=
c.317A=
c.5011A= (p.Ile1671=)
c.298A= (p.Ile100=)
c.5020A= (p.Ile1674=)
c.4864A= (p.Ile1622=)
c.262A=
n.395A=
c.406A= (p.Ile136=)
c.5206A= (p.Ile1736=)
c.1060A= (p.Ile354=)
c.463A= (p.Ile155=)
19g.13235680G>ACA9239857CACNA1Ac.5001C>T (p.Leu1667=)
c.5007C>T (p.Leu1669=)
c.420C>T
n.225C>T
c.162C>T (p.Leu54=)
n.206C>T
c.5004C>T (p.Leu1668=)
n.990C>T
c.316C>T
c.5010C>T (p.Leu1670=)
c.297C>T (p.Leu99=)
c.5019C>T (p.Leu1673=)
c.4863C>T (p.Leu1621=)
c.261C>T
n.394C>T
c.405C>T (p.Leu135=)
c.5205C>T (p.Leu1735=)
c.1059C>T (p.Leu353=)
c.462C>T (p.Leu154=)
 ClinVar dbSNP ExAC gnomAD v2
19g.13235680G>CCA505658788CACNA1Ac.5001C>G (p.Leu1667=)
c.5007C>G (p.Leu1669=)
c.420C>G
n.225C>G
c.162C>G (p.Leu54=)
n.206C>G
c.5004C>G (p.Leu1668=)
n.990C>G
c.316C>G
c.5010C>G (p.Leu1670=)
c.297C>G (p.Leu99=)
c.5019C>G (p.Leu1673=)
c.4863C>G (p.Leu1621=)
c.261C>G
n.394C>G
c.405C>G (p.Leu135=)
c.5205C>G (p.Leu1735=)
c.1059C>G (p.Leu353=)
c.462C>G (p.Leu154=)
19g.13235680G=CA2323795780CACNA1Ac.5001C= (p.Leu1667=)
c.5007C= (p.Leu1669=)
c.420C=
n.225C=
c.162C= (p.Leu54=)
n.206C=
c.5004C= (p.Leu1668=)
n.990C=
c.316C=
c.5010C= (p.Leu1670=)
c.297C= (p.Leu99=)
c.5019C= (p.Leu1673=)
c.4863C= (p.Leu1621=)
c.261C=
n.394C=
c.405C= (p.Leu135=)
c.5205C= (p.Leu1735=)
c.1059C= (p.Leu353=)
c.462C= (p.Leu154=)
19g.13235680G>TCA505658790CACNA1Ac.5001C>A (p.Leu1667=)
c.5007C>A (p.Leu1669=)
c.420C>A
n.225C>A
c.162C>A (p.Leu54=)
n.206C>A
c.5004C>A (p.Leu1668=)
n.990C>A
c.316C>A
c.5010C>A (p.Leu1670=)
c.297C>A (p.Leu99=)
c.5019C>A (p.Leu1673=)
c.4863C>A (p.Leu1621=)
c.261C>A
n.394C>A
c.405C>A (p.Leu135=)
c.5205C>A (p.Leu1735=)
c.1059C>A (p.Leu353=)
c.462C>A (p.Leu154=)
19g.13235681delCA2825002748CACNA1Ac.5000del (p.Leu1667ProfsTer?)
c.5006del (p.Leu1669ProfsTer?)
c.419del
n.224del
c.161del (p.Leu54ProfsTer?)
n.205del
c.5003del (p.Leu1668ProfsTer?)
n.989del
c.315del
c.5009del (p.Leu1670ProfsTer?)
c.296del (p.Leu99ProfsTer?)
c.5018del (p.Leu1673ProfsTer?)
c.4862del (p.Leu1621ProfsTer?)
c.260del
n.393del
c.404del (p.Leu135ProfsTer?)
c.5204del (p.Leu1735ProfsTer?)
c.1058del (p.Leu353ProfsTer?)
c.461del (p.Leu154ProfsTer?)
 ClinVar
19g.13235681A>CCA404336888CACNA1Ac.5000T>G (p.Leu1667Arg)
c.5006T>G (p.Leu1669Arg)
c.419T>G
n.224T>G
c.161T>G (p.Leu54Arg)
n.205T>G
c.5003T>G (p.Leu1668Arg)
n.989T>G
c.315T>G
c.5009T>G (p.Leu1670Arg)
c.296T>G (p.Leu99Arg)
c.5018T>G (p.Leu1673Arg)
c.4862T>G (p.Leu1621Arg)
c.260T>G
n.393T>G
c.404T>G (p.Leu135Arg)
c.5204T>G (p.Leu1735Arg)
c.1058T>G (p.Leu353Arg)
c.461T>G (p.Leu154Arg)
19g.13235681A>GCA404336890CACNA1Ac.5000T>C (p.Leu1667Pro)
c.5006T>C (p.Leu1669Pro)
c.419T>C
n.224T>C
c.161T>C (p.Leu54Pro)
n.205T>C
c.5003T>C (p.Leu1668Pro)
n.989T>C
c.315T>C
c.5009T>C (p.Leu1670Pro)
c.296T>C (p.Leu99Pro)
c.5018T>C (p.Leu1673Pro)
c.4862T>C (p.Leu1621Pro)
c.260T>C
n.393T>C
c.404T>C (p.Leu135Pro)
c.5204T>C (p.Leu1735Pro)
c.1058T>C (p.Leu353Pro)
c.461T>C (p.Leu154Pro)
19g.13235681A>TCA404336893CACNA1Ac.5000T>A (p.Leu1667His)
c.5006T>A (p.Leu1669His)
c.419T>A
n.224T>A
c.161T>A (p.Leu54His)
n.205T>A
c.5003T>A (p.Leu1668His)
n.989T>A
c.315T>A
c.5009T>A (p.Leu1670His)
c.296T>A (p.Leu99His)
c.5018T>A (p.Leu1673His)
c.4862T>A (p.Leu1621His)
c.260T>A
n.393T>A
c.404T>A (p.Leu135His)
c.5204T>A (p.Leu1735His)
c.1058T>A (p.Leu353His)
c.461T>A (p.Leu154His)
19g.13235682G>ACA404336896CACNA1Ac.4999C>T (p.Leu1667Phe)
c.5005C>T (p.Leu1669Phe)
c.418C>T
n.223C>T
c.160C>T (p.Leu54Phe)
n.204C>T
c.5002C>T (p.Leu1668Phe)
n.988C>T
c.314C>T
c.5008C>T (p.Leu1670Phe)
c.295C>T (p.Leu99Phe)
c.5017C>T (p.Leu1673Phe)
c.4861C>T (p.Leu1621Phe)
c.259C>T
n.392C>T
c.403C>T (p.Leu135Phe)
c.5203C>T (p.Leu1735Phe)
c.1057C>T (p.Leu353Phe)
c.460C>T (p.Leu154Phe)
 ClinVar dbSNP
19g.13235682G>CCA404336898CACNA1Ac.4999C>G (p.Leu1667Val)
c.5005C>G (p.Leu1669Val)
c.418C>G
n.223C>G
c.160C>G (p.Leu54Val)
n.204C>G
c.5002C>G (p.Leu1668Val)
n.988C>G
c.314C>G
c.5008C>G (p.Leu1670Val)
c.295C>G (p.Leu99Val)
c.5017C>G (p.Leu1673Val)
c.4861C>G (p.Leu1621Val)
c.259C>G
n.392C>G
c.403C>G (p.Leu135Val)
c.5203C>G (p.Leu1735Val)
c.1057C>G (p.Leu353Val)
c.460C>G (p.Leu154Val)
19g.13235682G>TCA404336901CACNA1Ac.4999C>A (p.Leu1667Ile)
c.5005C>A (p.Leu1669Ile)
c.418C>A
n.223C>A
c.160C>A (p.Leu54Ile)
n.204C>A
c.5002C>A (p.Leu1668Ile)
n.988C>A
c.314C>A
c.5008C>A (p.Leu1670Ile)
c.295C>A (p.Leu99Ile)
c.5017C>A (p.Leu1673Ile)
c.4861C>A (p.Leu1621Ile)
c.259C>A
n.392C>A
c.403C>A (p.Leu135Ile)
c.5203C>A (p.Leu1735Ile)
c.1057C>A (p.Leu353Ile)
c.460C>A (p.Leu154Ile)
19g.13235683C>ACA505658793CACNA1Ac.4998G>T (p.Arg1666=)
c.5004G>T (p.Arg1668=)
c.417G>T
n.222G>T
c.159G>T (p.Arg53=)
n.203G>T
c.5001G>T (p.Arg1667=)
n.987G>T
c.313G>T
c.5007G>T (p.Arg1669=)
c.294G>T (p.Arg98=)
c.5016G>T (p.Arg1672=)
c.4860G>T (p.Arg1620=)
c.258G>T
n.391G>T
c.402G>T (p.Arg134=)
c.5202G>T (p.Arg1734=)
c.1056G>T (p.Arg352=)
c.459G>T (p.Arg153=)
 ClinVar
19g.13235683C>GCA505658792CACNA1Ac.4998G>C (p.Arg1666=)
c.5004G>C (p.Arg1668=)
c.417G>C
n.222G>C
c.159G>C (p.Arg53=)
n.203G>C
c.5001G>C (p.Arg1667=)
n.987G>C
c.313G>C
c.5007G>C (p.Arg1669=)
c.294G>C (p.Arg98=)
c.5016G>C (p.Arg1672=)
c.4860G>C (p.Arg1620=)
c.258G>C
n.391G>C
c.402G>C (p.Arg134=)
c.5202G>C (p.Arg1734=)
c.1056G>C (p.Arg352=)
c.459G>C (p.Arg153=)
19g.13235683C>TCA505658791CACNA1Ac.4998G>A (p.Arg1666=)
c.5004G>A (p.Arg1668=)
c.417G>A
n.222G>A
c.159G>A (p.Arg53=)
n.203G>A
c.5001G>A (p.Arg1667=)
n.987G>A
c.313G>A
c.5007G>A (p.Arg1669=)
c.294G>A (p.Arg98=)
c.5016G>A (p.Arg1672=)
c.4860G>A (p.Arg1620=)
c.258G>A
n.391G>A
c.402G>A (p.Arg134=)
c.5202G>A (p.Arg1734=)
c.1056G>A (p.Arg352=)
c.459G>A (p.Arg153=)
 gnomAD v4
19g.13235684C>ACA404336902CACNA1Ac.4997G>T (p.Arg1666Leu)
c.5003G>T (p.Arg1668Leu)
c.416G>T
n.221G>T
c.158G>T (p.Arg53Leu)
n.202G>T
c.5000G>T (p.Arg1667Leu)
n.986G>T
c.312G>T
c.5006G>T (p.Arg1669Leu)
c.293G>T (p.Arg98Leu)
c.5015G>T (p.Arg1672Leu)
c.4859G>T (p.Arg1620Leu)
c.257G>T
n.390G>T
c.401G>T (p.Arg134Leu)
c.5201G>T (p.Arg1734Leu)
c.1055G>T (p.Arg352Leu)
c.458G>T (p.Arg153Leu)
19g.13235684C=CA2323795781CACNA1Ac.4997G= (p.Arg1666=)
c.5003G= (p.Arg1668=)
c.416G=
n.221G=
c.158G= (p.Arg53=)
n.202G=
c.5000G= (p.Arg1667=)
n.986G=
c.312G=
c.5006G= (p.Arg1669=)
c.293G= (p.Arg98=)
c.5015G= (p.Arg1672=)
c.4859G= (p.Arg1620=)
c.257G=
n.390G=
c.401G= (p.Arg134=)
c.5201G= (p.Arg1734=)
c.1055G= (p.Arg352=)
c.458G= (p.Arg153=)
19g.13235684C>GCA404336903CACNA1Ac.4997G>C (p.Arg1666Pro)
c.5003G>C (p.Arg1668Pro)
c.416G>C
n.221G>C
c.158G>C (p.Arg53Pro)
n.202G>C
c.5000G>C (p.Arg1667Pro)
n.986G>C
c.312G>C
c.5006G>C (p.Arg1669Pro)
c.293G>C (p.Arg98Pro)
c.5015G>C (p.Arg1672Pro)
c.4859G>C (p.Arg1620Pro)
c.257G>C
n.390G>C
c.401G>C (p.Arg134Pro)
c.5201G>C (p.Arg1734Pro)
c.1055G>C (p.Arg352Pro)
c.458G>C (p.Arg153Pro)
 ClinVar dbSNP
19g.13235684C>TCA404336905CACNA1Ac.4997G>A (p.Arg1666Gln)
c.5003G>A (p.Arg1668Gln)
c.416G>A
n.221G>A
c.158G>A (p.Arg53Gln)
n.202G>A
c.5000G>A (p.Arg1667Gln)
n.986G>A
c.312G>A
c.5006G>A (p.Arg1669Gln)
c.293G>A (p.Arg98Gln)
c.5015G>A (p.Arg1672Gln)
c.4859G>A (p.Arg1620Gln)
c.257G>A
n.390G>A
c.401G>A (p.Arg134Gln)
c.5201G>A (p.Arg1734Gln)
c.1055G>A (p.Arg352Gln)
c.458G>A (p.Arg153Gln)
 ClinVar dbSNP COSMIC COSMIC COSMIC
19g.13235685G>ACA266053CACNA1Ac.4996C>T (p.Arg1666Trp)
c.5002C>T (p.Arg1668Trp)
c.415C>T
n.220C>T
c.157C>T (p.Arg53Trp)
n.201C>T
c.4999C>T (p.Arg1667Trp)
n.985C>T
c.311C>T
c.5005C>T (p.Arg1669Trp)
c.292C>T (p.Arg98Trp)
c.5014C>T (p.Arg1672Trp)
c.4858C>T (p.Arg1620Trp)
c.256C>T
n.389C>T
c.400C>T (p.Arg134Trp)
c.5200C>T (p.Arg1734Trp)
c.1054C>T (p.Arg352Trp)
c.457C>T (p.Arg153Trp)
 ClinVar dbSNP gnomAD v4
19g.13235685G>CCA404336907CACNA1Ac.4996C>G (p.Arg1666Gly)
c.5002C>G (p.Arg1668Gly)
c.415C>G
n.220C>G
c.157C>G (p.Arg53Gly)
n.201C>G
c.4999C>G (p.Arg1667Gly)
n.985C>G
c.311C>G
c.5005C>G (p.Arg1669Gly)
c.292C>G (p.Arg98Gly)
c.5014C>G (p.Arg1672Gly)
c.4858C>G (p.Arg1620Gly)
c.256C>G
n.389C>G
c.400C>G (p.Arg134Gly)
c.5200C>G (p.Arg1734Gly)
c.1054C>G (p.Arg352Gly)
c.457C>G (p.Arg153Gly)
19g.13235685G=CA2323795782CACNA1Ac.4996C= (p.Arg1666=)
c.5002C= (p.Arg1668=)
c.415C=
n.220C=
c.157C= (p.Arg53=)
n.201C=
c.4999C= (p.Arg1667=)
n.985C=
c.311C=
c.5005C= (p.Arg1669=)
c.292C= (p.Arg98=)
c.5014C= (p.Arg1672=)
c.4858C= (p.Arg1620=)
c.256C=
n.389C=
c.400C= (p.Arg134=)
c.5200C= (p.Arg1734=)
c.1054C= (p.Arg352=)
c.457C= (p.Arg153=)
19g.13235685G>TCA505658794CACNA1Ac.4996C>A (p.Arg1666=)
c.5002C>A (p.Arg1668=)
c.415C>A
n.220C>A
c.157C>A (p.Arg53=)
n.201C>A
c.4999C>A (p.Arg1667=)
n.985C>A
c.311C>A
c.5005C>A (p.Arg1669=)
c.292C>A (p.Arg98=)
c.5014C>A (p.Arg1672=)
c.4858C>A (p.Arg1620=)
c.256C>A
n.389C>A
c.400C>A (p.Arg134=)
c.5200C>A (p.Arg1734=)
c.1054C>A (p.Arg352=)
c.457C>A (p.Arg153=)
 gnomAD v4
19g.13235686G>ACA505658796CACNA1Ac.4995C>T (p.Ala1665=)
c.5001C>T (p.Ala1667=)
c.414C>T
n.219C>T
c.156C>T (p.Ala52=)
n.200C>T
c.4998C>T (p.Ala1666=)
n.984C>T
c.310C>T
c.5004C>T (p.Ala1668=)
c.291C>T (p.Ala97=)
c.5013C>T (p.Ala1671=)
c.4857C>T (p.Ala1619=)
c.255C>T
n.388C>T
c.399C>T (p.Ala133=)
c.5199C>T (p.Ala1733=)
c.1053C>T (p.Ala351=)
c.456C>T (p.Ala152=)
19g.13235686G>CCA505658797CACNA1Ac.4995C>G (p.Ala1665=)
c.5001C>G (p.Ala1667=)
c.414C>G
n.219C>G
c.156C>G (p.Ala52=)
n.200C>G
c.4998C>G (p.Ala1666=)
n.984C>G
c.310C>G
c.5004C>G (p.Ala1668=)
c.291C>G (p.Ala97=)
c.5013C>G (p.Ala1671=)
c.4857C>G (p.Ala1619=)
c.255C>G
n.388C>G
c.399C>G (p.Ala133=)
c.5199C>G (p.Ala1733=)
c.1053C>G (p.Ala351=)
c.456C>G (p.Ala152=)
19g.13235686G>TCA505658798CACNA1Ac.4995C>A (p.Ala1665=)
c.5001C>A (p.Ala1667=)
c.414C>A
n.219C>A
c.156C>A (p.Ala52=)
n.200C>A
c.4998C>A (p.Ala1666=)
n.984C>A
c.310C>A
c.5004C>A (p.Ala1668=)
c.291C>A (p.Ala97=)
c.5013C>A (p.Ala1671=)
c.4857C>A (p.Ala1619=)
c.255C>A
n.388C>A
c.399C>A (p.Ala133=)
c.5199C>A (p.Ala1733=)
c.1053C>A (p.Ala351=)
c.456C>A (p.Ala152=)
19g.13235687G>ACA404336911CACNA1Ac.4994C>T (p.Ala1665Val)
c.5000C>T (p.Ala1667Val)
c.413C>T
n.218C>T
c.155C>T (p.Ala52Val)
n.199C>T
c.4997C>T (p.Ala1666Val)
n.983C>T
c.309C>T
c.5003C>T (p.Ala1668Val)
c.290C>T (p.Ala97Val)
c.5012C>T (p.Ala1671Val)
c.4856C>T (p.Ala1619Val)
c.254C>T
n.387C>T
c.398C>T (p.Ala133Val)
c.5198C>T (p.Ala1733Val)
c.1052C>T (p.Ala351Val)
c.455C>T (p.Ala152Val)
19g.13235687G>CCA404336918CACNA1Ac.4994C>G (p.Ala1665Gly)
c.5000C>G (p.Ala1667Gly)
c.413C>G
n.218C>G
c.155C>G (p.Ala52Gly)
n.199C>G
c.4997C>G (p.Ala1666Gly)
n.983C>G
c.309C>G
c.5003C>G (p.Ala1668Gly)
c.290C>G (p.Ala97Gly)
c.5012C>G (p.Ala1671Gly)
c.4856C>G (p.Ala1619Gly)
c.254C>G
n.387C>G
c.398C>G (p.Ala133Gly)
c.5198C>G (p.Ala1733Gly)
c.1052C>G (p.Ala351Gly)
c.455C>G (p.Ala152Gly)
19g.13235687G>TCA404336913CACNA1Ac.4994C>A (p.Ala1665Asp)
c.5000C>A (p.Ala1667Asp)
c.413C>A
n.218C>A
c.155C>A (p.Ala52Asp)
n.199C>A
c.4997C>A (p.Ala1666Asp)
n.983C>A
c.309C>A
c.5003C>A (p.Ala1668Asp)
c.290C>A (p.Ala97Asp)
c.5012C>A (p.Ala1671Asp)
c.4856C>A (p.Ala1619Asp)
c.254C>A
n.387C>A
c.398C>A (p.Ala133Asp)
c.5198C>A (p.Ala1733Asp)
c.1052C>A (p.Ala351Asp)
c.455C>A (p.Ala152Asp)
19g.13235688C>ACA404336921CACNA1Ac.4993G>T (p.Ala1665Ser)
c.4999G>T (p.Ala1667Ser)
c.412G>T
n.217G>T
c.154G>T (p.Ala52Ser)
n.198G>T
c.4996G>T (p.Ala1666Ser)
n.982G>T
c.308G>T
c.5002G>T (p.Ala1668Ser)
c.289G>T (p.Ala97Ser)
c.5011G>T (p.Ala1671Ser)
c.4855G>T (p.Ala1619Ser)
c.253G>T
n.386G>T
c.397G>T (p.Ala133Ser)
c.5197G>T (p.Ala1733Ser)
c.1051G>T (p.Ala351Ser)
c.454G>T (p.Ala152Ser)
19g.13235688C>GCA404336927CACNA1Ac.4993G>C (p.Ala1665Pro)
c.4999G>C (p.Ala1667Pro)
c.412G>C
n.217G>C
c.154G>C (p.Ala52Pro)
n.198G>C
c.4996G>C (p.Ala1666Pro)
n.982G>C
c.308G>C
c.5002G>C (p.Ala1668Pro)
c.289G>C (p.Ala97Pro)
c.5011G>C (p.Ala1671Pro)
c.4855G>C (p.Ala1619Pro)
c.253G>C
n.386G>C
c.397G>C (p.Ala133Pro)
c.5197G>C (p.Ala1733Pro)
c.1051G>C (p.Ala351Pro)
c.454G>C (p.Ala152Pro)
19g.13235688C>TCA404336924CACNA1Ac.4993G>A (p.Ala1665Thr)
c.4999G>A (p.Ala1667Thr)
c.412G>A
n.217G>A
c.154G>A (p.Ala52Thr)
n.198G>A
c.4996G>A (p.Ala1666Thr)
n.982G>A
c.308G>A
c.5002G>A (p.Ala1668Thr)
c.289G>A (p.Ala97Thr)
c.5011G>A (p.Ala1671Thr)
c.4855G>A (p.Ala1619Thr)
c.253G>A
n.386G>A
c.397G>A (p.Ala133Thr)
c.5197G>A (p.Ala1733Thr)
c.1051G>A (p.Ala351Thr)
c.454G>A (p.Ala152Thr)
19g.13235689A>CCA505658802CACNA1Ac.4992T>G (p.Ala1664=)
c.4998T>G (p.Ala1666=)
c.411T>G
n.216T>G
c.153T>G (p.Ala51=)
n.197T>G
c.4995T>G (p.Ala1665=)
n.981T>G
c.307T>G
c.5001T>G (p.Ala1667=)
c.288T>G (p.Ala96=)
c.5010T>G (p.Ala1670=)
c.4854T>G (p.Ala1618=)
c.252T>G
n.385T>G
c.396T>G (p.Ala132=)
c.5196T>G (p.Ala1732=)
c.1050T>G (p.Ala350=)
c.453T>G (p.Ala151=)
19g.13235689A>GCA505658804CACNA1Ac.4992T>C (p.Ala1664=)
c.4998T>C (p.Ala1666=)
c.411T>C
n.216T>C
c.153T>C (p.Ala51=)
n.197T>C
c.4995T>C (p.Ala1665=)
n.981T>C
c.307T>C
c.5001T>C (p.Ala1667=)
c.288T>C (p.Ala96=)
c.5010T>C (p.Ala1670=)
c.4854T>C (p.Ala1618=)
c.252T>C
n.385T>C
c.396T>C (p.Ala132=)
c.5196T>C (p.Ala1732=)
c.1050T>C (p.Ala350=)
c.453T>C (p.Ala151=)
 gnomAD v4
19g.13235689A>TCA505658803CACNA1Ac.4992T>A (p.Ala1664=)
c.4998T>A (p.Ala1666=)
c.411T>A
n.216T>A
c.153T>A (p.Ala51=)
n.197T>A
c.4995T>A (p.Ala1665=)
n.981T>A
c.307T>A
c.5001T>A (p.Ala1667=)
c.288T>A (p.Ala96=)
c.5010T>A (p.Ala1670=)
c.4854T>A (p.Ala1618=)
c.252T>A
n.385T>A
c.396T>A (p.Ala132=)
c.5196T>A (p.Ala1732=)
c.1050T>A (p.Ala350=)
c.453T>A (p.Ala151=)
19g.13235690G>ACA404336931CACNA1Ac.4991C>T (p.Ala1664Val)
c.4997C>T (p.Ala1666Val)
c.410C>T
n.215C>T
c.152C>T (p.Ala51Val)
n.196C>T
c.4994C>T (p.Ala1665Val)
n.980C>T
c.306C>T
c.5000C>T (p.Ala1667Val)
c.287C>T (p.Ala96Val)
c.5009C>T (p.Ala1670Val)
c.4853C>T (p.Ala1618Val)
c.251C>T
n.384C>T
c.395C>T (p.Ala132Val)
c.5195C>T (p.Ala1732Val)
c.1049C>T (p.Ala350Val)
c.452C>T (p.Ala151Val)
19g.13235690G>CCA404336936CACNA1Ac.4991C>G (p.Ala1664Gly)
c.4997C>G (p.Ala1666Gly)
c.410C>G
n.215C>G
c.152C>G (p.Ala51Gly)
n.196C>G
c.4994C>G (p.Ala1665Gly)
n.980C>G
c.306C>G
c.5000C>G (p.Ala1667Gly)
c.287C>G (p.Ala96Gly)
c.5009C>G (p.Ala1670Gly)
c.4853C>G (p.Ala1618Gly)
c.251C>G
n.384C>G
c.395C>G (p.Ala132Gly)
c.5195C>G (p.Ala1732Gly)
c.1049C>G (p.Ala350Gly)
c.452C>G (p.Ala151Gly)
 ClinVar
19g.13235690G>TCA404336934CACNA1Ac.4991C>A (p.Ala1664Asp)
c.4997C>A (p.Ala1666Asp)
c.410C>A
n.215C>A
c.152C>A (p.Ala51Asp)
n.196C>A
c.4994C>A (p.Ala1665Asp)
n.980C>A
c.306C>A
c.5000C>A (p.Ala1667Asp)
c.287C>A (p.Ala96Asp)
c.5009C>A (p.Ala1670Asp)
c.4853C>A (p.Ala1618Asp)
c.251C>A
n.384C>A
c.395C>A (p.Ala132Asp)
c.5195C>A (p.Ala1732Asp)
c.1049C>A (p.Ala350Asp)
c.452C>A (p.Ala151Asp)
19g.13235691C>ACA404336947CACNA1Ac.4990G>T (p.Ala1664Ser)
c.4996G>T (p.Ala1666Ser)
c.409G>T
n.214G>T
c.151G>T (p.Ala51Ser)
n.195G>T
c.4993G>T (p.Ala1665Ser)
n.979G>T
c.305G>T
c.4999G>T (p.Ala1667Ser)
c.286G>T (p.Ala96Ser)
c.5008G>T (p.Ala1670Ser)
c.4852G>T (p.Ala1618Ser)
c.250G>T
n.383G>T
c.394G>T (p.Ala132Ser)
c.5194G>T (p.Ala1732Ser)
c.1048G>T (p.Ala350Ser)
c.451G>T (p.Ala151Ser)
19g.13235691C>GCA404336952CACNA1Ac.4990G>C (p.Ala1664Pro)
c.4996G>C (p.Ala1666Pro)
c.409G>C
n.214G>C
c.151G>C (p.Ala51Pro)
n.195G>C
c.4993G>C (p.Ala1665Pro)
n.979G>C
c.305G>C
c.4999G>C (p.Ala1667Pro)
c.286G>C (p.Ala96Pro)
c.5008G>C (p.Ala1670Pro)
c.4852G>C (p.Ala1618Pro)
c.250G>C
n.383G>C
c.394G>C (p.Ala132Pro)
c.5194G>C (p.Ala1732Pro)
c.1048G>C (p.Ala350Pro)
c.451G>C (p.Ala151Pro)
19g.13235691C>TCA404336955CACNA1Ac.4990G>A (p.Ala1664Thr)
c.4996G>A (p.Ala1666Thr)
c.409G>A
n.214G>A
c.151G>A (p.Ala51Thr)
n.195G>A
c.4993G>A (p.Ala1665Thr)
n.979G>A
c.305G>A
c.4999G>A (p.Ala1667Thr)
c.286G>A (p.Ala96Thr)
c.5008G>A (p.Ala1670Thr)
c.4852G>A (p.Ala1618Thr)
c.250G>A
n.383G>A
c.394G>A (p.Ala132Thr)
c.5194G>A (p.Ala1732Thr)
c.1048G>A (p.Ala350Thr)
c.451G>A (p.Ala151Thr)
19g.13235692T>ACA505658805CACNA1Ac.4989A>T (p.Arg1663=)
c.4995A>T (p.Arg1665=)
c.408A>T
n.213A>T
c.150A>T (p.Arg50=)
n.194A>T
c.4992A>T (p.Arg1664=)
n.978A>T
c.304A>T
c.4998A>T (p.Arg1666=)
c.285A>T (p.Arg95=)
c.5007A>T (p.Arg1669=)
c.4851A>T (p.Arg1617=)
c.249A>T
n.382A>T
c.393A>T (p.Arg131=)
c.5193A>T (p.Arg1731=)
c.1047A>T (p.Arg349=)
c.450A>T (p.Arg150=)
19g.13235692T>CCA505658806CACNA1Ac.4989A>G (p.Arg1663=)
c.4995A>G (p.Arg1665=)
c.408A>G
n.213A>G
c.150A>G (p.Arg50=)
n.194A>G
c.4992A>G (p.Arg1664=)
n.978A>G
c.304A>G
c.4998A>G (p.Arg1666=)
c.285A>G (p.Arg95=)
c.5007A>G (p.Arg1669=)
c.4851A>G (p.Arg1617=)
c.249A>G
n.382A>G
c.393A>G (p.Arg131=)
c.5193A>G (p.Arg1731=)
c.1047A>G (p.Arg349=)
c.450A>G (p.Arg150=)
19g.13235692T>GCA505658807CACNA1Ac.4989A>C (p.Arg1663=)
c.4995A>C (p.Arg1665=)
c.408A>C
n.213A>C
c.150A>C (p.Arg50=)
n.194A>C
c.4992A>C (p.Arg1664=)
n.978A>C
c.304A>C
c.4998A>C (p.Arg1666=)
c.285A>C (p.Arg95=)
c.5007A>C (p.Arg1669=)
c.4851A>C (p.Arg1617=)
c.249A>C
n.382A>C
c.393A>C (p.Arg131=)
c.5193A>C (p.Arg1731=)
c.1047A>C (p.Arg349=)
c.450A>C (p.Arg150=)
19g.13235693C>ACA404336958CACNA1Ac.4988G>T (p.Arg1663Leu)
c.4994G>T (p.Arg1665Leu)
c.407G>T
n.212G>T
c.149G>T (p.Arg50Leu)
n.193G>T
c.4991G>T (p.Arg1664Leu)
n.977G>T
c.303G>T
c.4997G>T (p.Arg1666Leu)
c.284G>T (p.Arg95Leu)
c.5006G>T (p.Arg1669Leu)
c.4850G>T (p.Arg1617Leu)
c.248G>T
n.381G>T
c.392G>T (p.Arg131Leu)
c.5192G>T (p.Arg1731Leu)
c.1046G>T (p.Arg349Leu)
c.449G>T (p.Arg150Leu)
19g.13235693C=CA2323795783CACNA1Ac.4988G= (p.Arg1663=)
c.4994G= (p.Arg1665=)
c.407G=
n.212G=
c.149G= (p.Arg50=)
n.193G=
c.4991G= (p.Arg1664=)
n.977G=
c.303G=
c.4997G= (p.Arg1666=)
c.284G= (p.Arg95=)
c.5006G= (p.Arg1669=)
c.4850G= (p.Arg1617=)
c.248G=
n.381G=
c.392G= (p.Arg131=)
c.5192G= (p.Arg1731=)
c.1046G= (p.Arg349=)
c.449G= (p.Arg150=)
19g.13235693C>GCA404336959CACNA1Ac.4988G>C (p.Arg1663Pro)
c.4994G>C (p.Arg1665Pro)
c.407G>C
n.212G>C
c.149G>C (p.Arg50Pro)
n.193G>C
c.4991G>C (p.Arg1664Pro)
n.977G>C
c.303G>C
c.4997G>C (p.Arg1666Pro)
c.284G>C (p.Arg95Pro)
c.5006G>C (p.Arg1669Pro)
c.4850G>C (p.Arg1617Pro)
c.248G>C
n.381G>C
c.392G>C (p.Arg131Pro)
c.5192G>C (p.Arg1731Pro)
c.1046G>C (p.Arg349Pro)
c.449G>C (p.Arg150Pro)
 gnomAD v4
19g.13235693C>TCA185906CACNA1Ac.4988G>A (p.Arg1663Gln)
c.4994G>A (p.Arg1665Gln)
c.407G>A
n.212G>A
c.149G>A (p.Arg50Gln)
n.193G>A
c.4991G>A (p.Arg1664Gln)
n.977G>A
c.303G>A
c.4997G>A (p.Arg1666Gln)
c.284G>A (p.Arg95Gln)
c.5006G>A (p.Arg1669Gln)
c.4850G>A (p.Arg1617Gln)
c.248G>A
n.381G>A
c.392G>A (p.Arg131Gln)
c.5192G>A (p.Arg1731Gln)
c.1046G>A (p.Arg349Gln)
c.449G>A (p.Arg150Gln)
 ClinVar dbSNP
19g.13235694G>ACA404336960CACNA1Ac.4987C>T (p.Arg1663Ter)
c.4993C>T (p.Arg1665Ter)
c.406C>T
n.211C>T
c.148C>T (p.Arg50Ter)
n.192C>T
c.4990C>T (p.Arg1664Ter)
n.976C>T
c.302C>T
c.4996C>T (p.Arg1666Ter)
c.283C>T (p.Arg95Ter)
c.5005C>T (p.Arg1669Ter)
c.4849C>T (p.Arg1617Ter)
c.247C>T
n.380C>T
c.391C>T (p.Arg131Ter)
c.5191C>T (p.Arg1731Ter)
c.1045C>T (p.Arg349Ter)
c.448C>T (p.Arg150Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
19g.13235694G>CCA404336962CACNA1Ac.4987C>G (p.Arg1663Gly)
c.4993C>G (p.Arg1665Gly)
c.406C>G
n.211C>G
c.148C>G (p.Arg50Gly)
n.192C>G
c.4990C>G (p.Arg1664Gly)
n.976C>G
c.302C>G
c.4996C>G (p.Arg1666Gly)
c.283C>G (p.Arg95Gly)
c.5005C>G (p.Arg1669Gly)
c.4849C>G (p.Arg1617Gly)
c.247C>G
n.380C>G
c.391C>G (p.Arg131Gly)
c.5191C>G (p.Arg1731Gly)
c.1045C>G (p.Arg349Gly)
c.448C>G (p.Arg150Gly)
19g.13235694G=CA2323795784CACNA1Ac.4987C= (p.Arg1663=)
c.4993C= (p.Arg1665=)
c.406C=
n.211C=
c.148C= (p.Arg50=)
n.192C=
c.4990C= (p.Arg1664=)
n.976C=
c.302C=
c.4996C= (p.Arg1666=)
c.283C= (p.Arg95=)
c.5005C= (p.Arg1669=)
c.4849C= (p.Arg1617=)
c.247C=
n.380C=
c.391C= (p.Arg131=)
c.5191C= (p.Arg1731=)
c.1045C= (p.Arg349=)
c.448C= (p.Arg150=)
19g.13235694G>TCA505658808CACNA1Ac.4987C>A (p.Arg1663=)
c.4993C>A (p.Arg1665=)
c.406C>A
n.211C>A
c.148C>A (p.Arg50=)
n.192C>A
c.4990C>A (p.Arg1664=)
n.976C>A
c.302C>A
c.4996C>A (p.Arg1666=)
c.283C>A (p.Arg95=)
c.5005C>A (p.Arg1669=)
c.4849C>A (p.Arg1617=)
c.247C>A
n.380C>A
c.391C>A (p.Arg131=)
c.5191C>A (p.Arg1731=)
c.1045C>A (p.Arg349=)
c.448C>A (p.Arg150=)
19g.13235695G>ACA505658809CACNA1Ac.4986C>T (p.Phe1662=)
c.4992C>T (p.Phe1664=)
c.405C>T
n.210C>T
c.147C>T (p.Phe49=)
n.191C>T
c.4989C>T (p.Phe1663=)
n.975C>T
c.301C>T
c.4995C>T (p.Phe1665=)
c.282C>T (p.Phe94=)
c.5004C>T (p.Phe1668=)
c.4848C>T (p.Phe1616=)
c.246C>T
n.379C>T
c.390C>T (p.Phe130=)
c.5190C>T (p.Phe1730=)
c.1044C>T (p.Phe348=)
c.447C>T (p.Phe149=)
19g.13235695G>CCA404336963CACNA1Ac.4986C>G (p.Phe1662Leu)
c.4992C>G (p.Phe1664Leu)
c.405C>G
n.210C>G
c.147C>G (p.Phe49Leu)
n.191C>G
c.4989C>G (p.Phe1663Leu)
n.975C>G
c.301C>G
c.4995C>G (p.Phe1665Leu)
c.282C>G (p.Phe94Leu)
c.5004C>G (p.Phe1668Leu)
c.4848C>G (p.Phe1616Leu)
c.246C>G
n.379C>G
c.390C>G (p.Phe130Leu)
c.5190C>G (p.Phe1730Leu)
c.1044C>G (p.Phe348Leu)
c.447C>G (p.Phe149Leu)
19g.13235695G>TCA404336965CACNA1Ac.4986C>A (p.Phe1662Leu)
c.4992C>A (p.Phe1664Leu)
c.405C>A
n.210C>A
c.147C>A (p.Phe49Leu)
n.191C>A
c.4989C>A (p.Phe1663Leu)
n.975C>A
c.301C>A
c.4995C>A (p.Phe1665Leu)
c.282C>A (p.Phe94Leu)
c.5004C>A (p.Phe1668Leu)
c.4848C>A (p.Phe1616Leu)
c.246C>A
n.379C>A
c.390C>A (p.Phe130Leu)
c.5190C>A (p.Phe1730Leu)
c.1044C>A (p.Phe348Leu)
c.447C>A (p.Phe149Leu)
19g.13235696A>CCA404336969CACNA1Ac.4985T>G (p.Phe1662Cys)
c.4991T>G (p.Phe1664Cys)
c.404T>G
n.209T>G
c.146T>G (p.Phe49Cys)
n.190T>G
c.4988T>G (p.Phe1663Cys)
n.974T>G
c.300T>G
c.4994T>G (p.Phe1665Cys)
c.281T>G (p.Phe94Cys)
c.5003T>G (p.Phe1668Cys)
c.4847T>G (p.Phe1616Cys)
c.245T>G
n.378T>G
c.389T>G (p.Phe130Cys)
c.5189T>G (p.Phe1730Cys)
c.1043T>G (p.Phe348Cys)
c.446T>G (p.Phe149Cys)
19g.13235696A>GCA404336971CACNA1Ac.4985T>C (p.Phe1662Ser)
c.4991T>C (p.Phe1664Ser)
c.404T>C
n.209T>C
c.146T>C (p.Phe49Ser)
n.190T>C
c.4988T>C (p.Phe1663Ser)
n.974T>C
c.300T>C
c.4994T>C (p.Phe1665Ser)
c.281T>C (p.Phe94Ser)
c.5003T>C (p.Phe1668Ser)
c.4847T>C (p.Phe1616Ser)
c.245T>C
n.378T>C
c.389T>C (p.Phe130Ser)
c.5189T>C (p.Phe1730Ser)
c.1043T>C (p.Phe348Ser)
c.446T>C (p.Phe149Ser)
19g.13235696A>TCA404336973CACNA1Ac.4985T>A (p.Phe1662Tyr)
c.4991T>A (p.Phe1664Tyr)
c.404T>A
n.209T>A
c.146T>A (p.Phe49Tyr)
n.190T>A
c.4988T>A (p.Phe1663Tyr)
n.974T>A
c.300T>A
c.4994T>A (p.Phe1665Tyr)
c.281T>A (p.Phe94Tyr)
c.5003T>A (p.Phe1668Tyr)
c.4847T>A (p.Phe1616Tyr)
c.245T>A
n.378T>A
c.389T>A (p.Phe130Tyr)
c.5189T>A (p.Phe1730Tyr)
c.1043T>A (p.Phe348Tyr)
c.446T>A (p.Phe149Tyr)
19g.13235697A>CCA404336977CACNA1Ac.4984T>G (p.Phe1662Val)
c.4990T>G (p.Phe1664Val)
c.403T>G
n.208T>G
c.145T>G (p.Phe49Val)
n.189T>G
c.4987T>G (p.Phe1663Val)
n.973T>G
c.299T>G
c.4993T>G (p.Phe1665Val)
c.280T>G (p.Phe94Val)
c.5002T>G (p.Phe1668Val)
c.4846T>G (p.Phe1616Val)
c.244T>G
n.377T>G
c.388T>G (p.Phe130Val)
c.5188T>G (p.Phe1730Val)
c.1042T>G (p.Phe348Val)
c.445T>G (p.Phe149Val)
19g.13235697A>GCA404336979CACNA1Ac.4984T>C (p.Phe1662Leu)
c.4990T>C (p.Phe1664Leu)
c.403T>C
n.208T>C
c.145T>C (p.Phe49Leu)
n.189T>C
c.4987T>C (p.Phe1663Leu)
n.973T>C
c.299T>C
c.4993T>C (p.Phe1665Leu)
c.280T>C (p.Phe94Leu)
c.5002T>C (p.Phe1668Leu)
c.4846T>C (p.Phe1616Leu)
c.244T>C
n.377T>C
c.388T>C (p.Phe130Leu)
c.5188T>C (p.Phe1730Leu)
c.1042T>C (p.Phe348Leu)
c.445T>C (p.Phe149Leu)
19g.13235697A>TCA404336981CACNA1Ac.4984T>A (p.Phe1662Ile)
c.4990T>A (p.Phe1664Ile)
c.403T>A
n.208T>A
c.145T>A (p.Phe49Ile)
n.189T>A
c.4987T>A (p.Phe1663Ile)
n.973T>A
c.299T>A
c.4993T>A (p.Phe1665Ile)
c.280T>A (p.Phe94Ile)
c.5002T>A (p.Phe1668Ile)
c.4846T>A (p.Phe1616Ile)
c.244T>A
n.377T>A
c.388T>A (p.Phe130Ile)
c.5188T>A (p.Phe1730Ile)
c.1042T>A (p.Phe348Ile)
c.445T>A (p.Phe149Ile)
19g.13235698G>ACA505658810CACNA1Ac.4983C>T (p.Leu1661=)
c.4989C>T (p.Leu1663=)
c.402C>T
n.207C>T
c.144C>T (p.Leu48=)
n.188C>T
c.4986C>T (p.Leu1662=)
n.972C>T
c.298C>T
c.4992C>T (p.Leu1664=)
c.279C>T (p.Leu93=)
c.5001C>T (p.Leu1667=)
c.4845C>T (p.Leu1615=)
c.243C>T
n.376C>T
c.387C>T (p.Leu129=)
c.5187C>T (p.Leu1729=)
c.1041C>T (p.Leu347=)
c.444C>T (p.Leu148=)
19g.13235698G>CCA505658811CACNA1Ac.4983C>G (p.Leu1661=)
c.4989C>G (p.Leu1663=)
c.402C>G
n.207C>G
c.144C>G (p.Leu48=)
n.188C>G
c.4986C>G (p.Leu1662=)
n.972C>G
c.298C>G
c.4992C>G (p.Leu1664=)
c.279C>G (p.Leu93=)
c.5001C>G (p.Leu1667=)
c.4845C>G (p.Leu1615=)
c.243C>G
n.376C>G
c.387C>G (p.Leu129=)
c.5187C>G (p.Leu1729=)
c.1041C>G (p.Leu347=)
c.444C>G (p.Leu148=)
19g.13235698G>TCA505658812CACNA1Ac.4983C>A (p.Leu1661=)
c.4989C>A (p.Leu1663=)
c.402C>A
n.207C>A
c.144C>A (p.Leu48=)
n.188C>A
c.4986C>A (p.Leu1662=)
n.972C>A
c.298C>A
c.4992C>A (p.Leu1664=)
c.279C>A (p.Leu93=)
c.5001C>A (p.Leu1667=)
c.4845C>A (p.Leu1615=)
c.243C>A
n.376C>A
c.387C>A (p.Leu129=)
c.5187C>A (p.Leu1729=)
c.1041C>A (p.Leu347=)
c.444C>A (p.Leu148=)
19g.13235699A>CCA404336984CACNA1Ac.4982T>G (p.Leu1661Arg)
c.4988T>G (p.Leu1663Arg)
c.401T>G
n.206T>G
c.143T>G (p.Leu48Arg)
n.187T>G
c.4985T>G (p.Leu1662Arg)
n.971T>G
c.297T>G
c.4991T>G (p.Leu1664Arg)
c.278T>G (p.Leu93Arg)
c.5000T>G (p.Leu1667Arg)
c.4844T>G (p.Leu1615Arg)
c.242T>G
n.375T>G
c.386T>G (p.Leu129Arg)
c.5186T>G (p.Leu1729Arg)
c.1040T>G (p.Leu347Arg)
c.443T>G (p.Leu148Arg)
 COSMIC COSMIC COSMIC COSMIC
19g.13235699A>GCA404336989CACNA1Ac.4982T>C (p.Leu1661Pro)
c.4988T>C (p.Leu1663Pro)
c.401T>C
n.206T>C
c.143T>C (p.Leu48Pro)
n.187T>C
c.4985T>C (p.Leu1662Pro)
n.971T>C
c.297T>C
c.4991T>C (p.Leu1664Pro)
c.278T>C (p.Leu93Pro)
c.5000T>C (p.Leu1667Pro)
c.4844T>C (p.Leu1615Pro)
c.242T>C
n.375T>C
c.386T>C (p.Leu129Pro)
c.5186T>C (p.Leu1729Pro)
c.1040T>C (p.Leu347Pro)
c.443T>C (p.Leu148Pro)
19g.13235699A>TCA404336985CACNA1Ac.4982T>A (p.Leu1661His)
c.4988T>A (p.Leu1663His)
c.401T>A
n.206T>A
c.143T>A (p.Leu48His)
n.187T>A
c.4985T>A (p.Leu1662His)
n.971T>A
c.297T>A
c.4991T>A (p.Leu1664His)
c.278T>A (p.Leu93His)
c.5000T>A (p.Leu1667His)
c.4844T>A (p.Leu1615His)
c.242T>A
n.375T>A
c.386T>A (p.Leu129His)
c.5186T>A (p.Leu1729His)
c.1040T>A (p.Leu347His)
c.443T>A (p.Leu148His)
19g.13235700G>ACA404336992CACNA1Ac.4981C>T (p.Leu1661Phe)
c.4987C>T (p.Leu1663Phe)
c.400C>T
n.205C>T
c.142C>T (p.Leu48Phe)
n.186C>T
c.4984C>T (p.Leu1662Phe)
n.970C>T
c.296C>T
c.4990C>T (p.Leu1664Phe)
c.277C>T (p.Leu93Phe)
c.4999C>T (p.Leu1667Phe)
c.4843C>T (p.Leu1615Phe)
c.241C>T
n.374C>T
c.385C>T (p.Leu129Phe)
c.5185C>T (p.Leu1729Phe)
c.1039C>T (p.Leu347Phe)
c.442C>T (p.Leu148Phe)
19g.13235700G>CCA404336996CACNA1Ac.4981C>G (p.Leu1661Val)
c.4987C>G (p.Leu1663Val)
c.400C>G
n.205C>G
c.142C>G (p.Leu48Val)
n.186C>G
c.4984C>G (p.Leu1662Val)
n.970C>G
c.296C>G
c.4990C>G (p.Leu1664Val)
c.277C>G (p.Leu93Val)
c.4999C>G (p.Leu1667Val)
c.4843C>G (p.Leu1615Val)
c.241C>G
n.374C>G
c.385C>G (p.Leu129Val)
c.5185C>G (p.Leu1729Val)
c.1039C>G (p.Leu347Val)
c.442C>G (p.Leu148Val)
19g.13235700G>TCA404337000CACNA1Ac.4981C>A (p.Leu1661Ile)
c.4987C>A (p.Leu1663Ile)
c.400C>A
n.205C>A
c.142C>A (p.Leu48Ile)
n.186C>A
c.4984C>A (p.Leu1662Ile)
n.970C>A
c.296C>A
c.4990C>A (p.Leu1664Ile)
c.277C>A (p.Leu93Ile)
c.4999C>A (p.Leu1667Ile)
c.4843C>A (p.Leu1615Ile)
c.241C>A
n.374C>A
c.385C>A (p.Leu129Ile)
c.5185C>A (p.Leu1729Ile)
c.1039C>A (p.Leu347Ile)
c.442C>A (p.Leu148Ile)
 COSMIC COSMIC COSMIC COSMIC
19g.13235701G>ACA505658813CACNA1Ac.4980C>T (p.Arg1660=)
c.4986C>T (p.Arg1662=)
c.399C>T
n.204C>T
c.141C>T (p.Arg47=)
n.185C>T
c.4983C>T (p.Arg1661=)
n.969C>T
c.295C>T
c.4989C>T (p.Arg1663=)
c.276C>T (p.Arg92=)
c.4998C>T (p.Arg1666=)
c.4842C>T (p.Arg1614=)
c.240C>T
n.373C>T
c.384C>T (p.Arg128=)
c.5184C>T (p.Arg1728=)
c.1038C>T (p.Arg346=)
c.441C>T (p.Arg147=)
 gnomAD v4
19g.13235701G>CCA505658814CACNA1Ac.4980C>G (p.Arg1660=)
c.4986C>G (p.Arg1662=)
c.399C>G
n.204C>G
c.141C>G (p.Arg47=)
n.185C>G
c.4983C>G (p.Arg1661=)
n.969C>G
c.295C>G
c.4989C>G (p.Arg1663=)
c.276C>G (p.Arg92=)
c.4998C>G (p.Arg1666=)
c.4842C>G (p.Arg1614=)
c.240C>G
n.373C>G
c.384C>G (p.Arg128=)
c.5184C>G (p.Arg1728=)
c.1038C>G (p.Arg346=)
c.441C>G (p.Arg147=)
19g.13235701G>TCA505658815CACNA1Ac.4980C>A (p.Arg1660=)
c.4986C>A (p.Arg1662=)
c.399C>A
n.204C>A
c.141C>A (p.Arg47=)
n.185C>A
c.4983C>A (p.Arg1661=)
n.969C>A
c.295C>A
c.4989C>A (p.Arg1663=)
c.276C>A (p.Arg92=)
c.4998C>A (p.Arg1666=)
c.4842C>A (p.Arg1614=)
c.240C>A
n.373C>A
c.384C>A (p.Arg128=)
c.5184C>A (p.Arg1728=)
c.1038C>A (p.Arg346=)
c.441C>A (p.Arg147=)
19g.13235702C>ACA404337004CACNA1Ac.4979G>T (p.Arg1660Leu)
c.4985G>T (p.Arg1662Leu)
c.398G>T
n.203G>T
c.140G>T (p.Arg47Leu)
n.184G>T
c.4982G>T (p.Arg1661Leu)
n.968G>T
c.294G>T
c.4988G>T (p.Arg1663Leu)
c.275G>T (p.Arg92Leu)
c.4997G>T (p.Arg1666Leu)
c.4841G>T (p.Arg1614Leu)
c.239G>T
n.372G>T
c.383G>T (p.Arg128Leu)
c.5183G>T (p.Arg1728Leu)
c.1037G>T (p.Arg346Leu)
c.440G>T (p.Arg147Leu)
19g.13235702C=CA2323795785CACNA1Ac.4979G= (p.Arg1660=)
c.4985G= (p.Arg1662=)
c.398G=
n.203G=
c.140G= (p.Arg47=)
n.184G=
c.4982G= (p.Arg1661=)
n.968G=
c.294G=
c.4988G= (p.Arg1663=)
c.275G= (p.Arg92=)
c.4997G= (p.Arg1666=)
c.4841G= (p.Arg1614=)
c.239G=
n.372G=
c.383G= (p.Arg128=)
c.5183G= (p.Arg1728=)
c.1037G= (p.Arg346=)
c.440G= (p.Arg147=)
19g.13235702C>GCA404337007CACNA1Ac.4979G>C (p.Arg1660Pro)
c.4985G>C (p.Arg1662Pro)
c.398G>C
n.203G>C
c.140G>C (p.Arg47Pro)
n.184G>C
c.4982G>C (p.Arg1661Pro)
n.968G>C
c.294G>C
c.4988G>C (p.Arg1663Pro)
c.275G>C (p.Arg92Pro)
c.4997G>C (p.Arg1666Pro)
c.4841G>C (p.Arg1614Pro)
c.239G>C
n.372G>C
c.383G>C (p.Arg128Pro)
c.5183G>C (p.Arg1728Pro)
c.1037G>C (p.Arg346Pro)
c.440G>C (p.Arg147Pro)
19g.13235702C>TCA254430CACNA1Ac.4979G>A (p.Arg1660His)
c.4985G>A (p.Arg1662His)
c.398G>A
n.203G>A
c.140G>A (p.Arg47His)
n.184G>A
c.4982G>A (p.Arg1661His)
n.968G>A
c.294G>A
c.4988G>A (p.Arg1663His)
c.275G>A (p.Arg92His)
c.4997G>A (p.Arg1666His)
c.4841G>A (p.Arg1614His)
c.239G>A
n.372G>A
c.383G>A (p.Arg128His)
c.5183G>A (p.Arg1728His)
c.1037G>A (p.Arg346His)
c.440G>A (p.Arg147His)
 ClinVar dbSNP gnomAD v4
19g.13235703G>ACA9239858CACNA1Ac.4978C>T (p.Arg1660Cys)
c.4984C>T (p.Arg1662Cys)
c.397C>T
n.202C>T
c.139C>T (p.Arg47Cys)
n.183C>T
c.4981C>T (p.Arg1661Cys)
n.967C>T
c.293C>T
c.4987C>T (p.Arg1663Cys)
c.274C>T (p.Arg92Cys)
c.4996C>T (p.Arg1666Cys)
c.4840C>T (p.Arg1614Cys)
c.238C>T
n.371C>T
c.382C>T (p.Arg128Cys)
c.5182C>T (p.Arg1728Cys)
c.1036C>T (p.Arg346Cys)
c.439C>T (p.Arg147Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13235703G>CCA404337014CACNA1Ac.4978C>G (p.Arg1660Gly)
c.4984C>G (p.Arg1662Gly)
c.397C>G
n.202C>G
c.139C>G (p.Arg47Gly)
n.183C>G
c.4981C>G (p.Arg1661Gly)
n.967C>G
c.293C>G
c.4987C>G (p.Arg1663Gly)
c.274C>G (p.Arg92Gly)
c.4996C>G (p.Arg1666Gly)
c.4840C>G (p.Arg1614Gly)
c.238C>G
n.371C>G
c.382C>G (p.Arg128Gly)
c.5182C>G (p.Arg1728Gly)
c.1036C>G (p.Arg346Gly)
c.439C>G (p.Arg147Gly)
19g.13235703G=CA2323795786CACNA1Ac.4978C= (p.Arg1660=)
c.4984C= (p.Arg1662=)
c.397C=
n.202C=
c.139C= (p.Arg47=)
n.183C=
c.4981C= (p.Arg1661=)
n.967C=
c.293C=
c.4987C= (p.Arg1663=)
c.274C= (p.Arg92=)
c.4996C= (p.Arg1666=)
c.4840C= (p.Arg1614=)
c.238C=
n.371C=
c.382C= (p.Arg128=)
c.5182C= (p.Arg1728=)
c.1036C= (p.Arg346=)
c.439C= (p.Arg147=)
19g.13235703G>TCA404337016CACNA1Ac.4978C>A (p.Arg1660Ser)
c.4984C>A (p.Arg1662Ser)
c.397C>A
n.202C>A
c.139C>A (p.Arg47Ser)
n.183C>A
c.4981C>A (p.Arg1661Ser)
n.967C>A
c.293C>A
c.4987C>A (p.Arg1663Ser)
c.274C>A (p.Arg92Ser)
c.4996C>A (p.Arg1666Ser)
c.4840C>A (p.Arg1614Ser)
c.238C>A
n.371C>A
c.382C>A (p.Arg128Ser)
c.5182C>A (p.Arg1728Ser)
c.1036C>A (p.Arg346Ser)
c.439C>A (p.Arg147Ser)
19g.13235704G>ACA505658816CACNA1Ac.4977C>T (p.Leu1659=)
c.4983C>T (p.Leu1661=)
c.396C>T
n.201C>T
c.138C>T (p.Leu46=)
n.182C>T
c.4980C>T (p.Leu1660=)
n.966C>T
c.292C>T
c.4986C>T (p.Leu1662=)
c.273C>T (p.Leu91=)
c.4995C>T (p.Leu1665=)
c.4839C>T (p.Leu1613=)
c.237C>T
n.370C>T
c.381C>T (p.Leu127=)
c.5181C>T (p.Leu1727=)
c.1035C>T (p.Leu345=)
c.438C>T (p.Leu146=)
19g.13235704G>CCA505658817CACNA1Ac.4977C>G (p.Leu1659=)
c.4983C>G (p.Leu1661=)
c.396C>G
n.201C>G
c.138C>G (p.Leu46=)
n.182C>G
c.4980C>G (p.Leu1660=)
n.966C>G
c.292C>G
c.4986C>G (p.Leu1662=)
c.273C>G (p.Leu91=)
c.4995C>G (p.Leu1665=)
c.4839C>G (p.Leu1613=)
c.237C>G
n.370C>G
c.381C>G (p.Leu127=)
c.5181C>G (p.Leu1727=)
c.1035C>G (p.Leu345=)
c.438C>G (p.Leu146=)
19g.13235704G>TCA505658818CACNA1Ac.4977C>A (p.Leu1659=)
c.4983C>A (p.Leu1661=)
c.396C>A
n.201C>A
c.138C>A (p.Leu46=)
n.182C>A
c.4980C>A (p.Leu1660=)
n.966C>A
c.292C>A
c.4986C>A (p.Leu1662=)
c.273C>A (p.Leu91=)
c.4995C>A (p.Leu1665=)
c.4839C>A (p.Leu1613=)
c.237C>A
n.370C>A
c.381C>A (p.Leu127=)
c.5181C>A (p.Leu1727=)
c.1035C>A (p.Leu345=)
c.438C>A (p.Leu146=)
19g.13235705A>CCA404337025CACNA1Ac.4976T>G (p.Leu1659Arg)
c.4982T>G (p.Leu1661Arg)
c.395T>G
n.200T>G
c.137T>G (p.Leu46Arg)
n.181T>G
c.4979T>G (p.Leu1660Arg)
n.965T>G
c.291T>G
c.4985T>G (p.Leu1662Arg)
c.272T>G (p.Leu91Arg)
c.4994T>G (p.Leu1665Arg)
c.4838T>G (p.Leu1613Arg)
c.236T>G
n.369T>G
c.380T>G (p.Leu127Arg)
c.5180T>G (p.Leu1727Arg)
c.1034T>G (p.Leu345Arg)
c.437T>G (p.Leu146Arg)
19g.13235705A>GCA404337028CACNA1Ac.4976T>C (p.Leu1659Pro)
c.4982T>C (p.Leu1661Pro)
c.395T>C
n.200T>C
c.137T>C (p.Leu46Pro)
n.181T>C
c.4979T>C (p.Leu1660Pro)
n.965T>C
c.291T>C
c.4985T>C (p.Leu1662Pro)
c.272T>C (p.Leu91Pro)
c.4994T>C (p.Leu1665Pro)
c.4838T>C (p.Leu1613Pro)
c.236T>C
n.369T>C
c.380T>C (p.Leu127Pro)
c.5180T>C (p.Leu1727Pro)
c.1034T>C (p.Leu345Pro)
c.437T>C (p.Leu146Pro)
19g.13235705A>TCA404337031CACNA1Ac.4976T>A (p.Leu1659His)
c.4982T>A (p.Leu1661His)
c.395T>A
n.200T>A
c.137T>A (p.Leu46His)
n.181T>A
c.4979T>A (p.Leu1660His)
n.965T>A
c.291T>A
c.4985T>A (p.Leu1662His)
c.272T>A (p.Leu91His)
c.4994T>A (p.Leu1665His)
c.4838T>A (p.Leu1613His)
c.236T>A
n.369T>A
c.380T>A (p.Leu127His)
c.5180T>A (p.Leu1727His)
c.1034T>A (p.Leu345His)
c.437T>A (p.Leu146His)
19g.13235706G>ACA404337034CACNA1Ac.4975C>T (p.Leu1659Phe)
c.4981C>T (p.Leu1661Phe)
c.394C>T
n.199C>T
c.136C>T (p.Leu46Phe)
n.180C>T
c.4978C>T (p.Leu1660Phe)
n.964C>T
c.290C>T
c.4984C>T (p.Leu1662Phe)
c.271C>T (p.Leu91Phe)
c.4993C>T (p.Leu1665Phe)
c.4837C>T (p.Leu1613Phe)
c.235C>T
n.368C>T
c.379C>T (p.Leu127Phe)
c.5179C>T (p.Leu1727Phe)
c.1033C>T (p.Leu345Phe)
c.436C>T (p.Leu146Phe)
 ClinVar dbSNP
19g.13235706G>CCA404337039CACNA1Ac.4975C>G (p.Leu1659Val)
c.4981C>G (p.Leu1661Val)
c.394C>G
n.199C>G
c.136C>G (p.Leu46Val)
n.180C>G
c.4978C>G (p.Leu1660Val)
n.964C>G
c.290C>G
c.4984C>G (p.Leu1662Val)
c.271C>G (p.Leu91Val)
c.4993C>G (p.Leu1665Val)
c.4837C>G (p.Leu1613Val)
c.235C>G
n.368C>G
c.379C>G (p.Leu127Val)
c.5179C>G (p.Leu1727Val)
c.1033C>G (p.Leu345Val)
c.436C>G (p.Leu146Val)
19g.13235706G>TCA404337038CACNA1Ac.4975C>A (p.Leu1659Ile)
c.4981C>A (p.Leu1661Ile)
c.394C>A
n.199C>A
c.136C>A (p.Leu46Ile)
n.180C>A
c.4978C>A (p.Leu1660Ile)
n.964C>A
c.290C>A
c.4984C>A (p.Leu1662Ile)
c.271C>A (p.Leu91Ile)
c.4993C>A (p.Leu1665Ile)
c.4837C>A (p.Leu1613Ile)
c.235C>A
n.368C>A
c.379C>A (p.Leu127Ile)
c.5179C>A (p.Leu1727Ile)
c.1033C>A (p.Leu345Ile)
c.436C>A (p.Leu146Ile)
19g.13235707A>CCA404337042CACNA1Ac.4974T>G (p.Phe1658Leu)
c.4980T>G (p.Phe1660Leu)
c.393T>G
n.198T>G
c.135T>G (p.Phe45Leu)
n.179T>G
c.4977T>G (p.Phe1659Leu)
n.963T>G
c.289T>G
c.4983T>G (p.Phe1661Leu)
c.270T>G (p.Phe90Leu)
c.4992T>G (p.Phe1664Leu)
c.4836T>G (p.Phe1612Leu)
c.234T>G
n.367T>G
c.378T>G (p.Phe126Leu)
c.5178T>G (p.Phe1726Leu)
c.1032T>G (p.Phe344Leu)
c.435T>G (p.Phe145Leu)
19g.13235707A>GCA505658819CACNA1Ac.4974T>C (p.Phe1658=)
c.4980T>C (p.Phe1660=)
c.393T>C
n.198T>C
c.135T>C (p.Phe45=)
n.179T>C
c.4977T>C (p.Phe1659=)
n.963T>C
c.289T>C
c.4983T>C (p.Phe1661=)
c.270T>C (p.Phe90=)
c.4992T>C (p.Phe1664=)
c.4836T>C (p.Phe1612=)
c.234T>C
n.367T>C
c.378T>C (p.Phe126=)
c.5178T>C (p.Phe1726=)
c.1032T>C (p.Phe344=)
c.435T>C (p.Phe145=)
 gnomAD v4
19g.13235707A>TCA404337043CACNA1Ac.4974T>A (p.Phe1658Leu)
c.4980T>A (p.Phe1660Leu)
c.393T>A
n.198T>A
c.135T>A (p.Phe45Leu)
n.179T>A
c.4977T>A (p.Phe1659Leu)
n.963T>A
c.289T>A
c.4983T>A (p.Phe1661Leu)
c.270T>A (p.Phe90Leu)
c.4992T>A (p.Phe1664Leu)
c.4836T>A (p.Phe1612Leu)
c.234T>A
n.367T>A
c.378T>A (p.Phe126Leu)
c.5178T>A (p.Phe1726Leu)
c.1032T>A (p.Phe344Leu)
c.435T>A (p.Phe145Leu)
19g.13235708A>CCA404337046CACNA1Ac.4973T>G (p.Phe1658Cys)
c.4979T>G (p.Phe1660Cys)
c.392T>G
n.197T>G
c.134T>G (p.Phe45Cys)
n.178T>G
c.4976T>G (p.Phe1659Cys)
n.962T>G
c.288T>G
c.4982T>G (p.Phe1661Cys)
c.269T>G (p.Phe90Cys)
c.4991T>G (p.Phe1664Cys)
c.4835T>G (p.Phe1612Cys)
c.233T>G
n.366T>G
c.377T>G (p.Phe126Cys)
c.5177T>G (p.Phe1726Cys)
c.1031T>G (p.Phe344Cys)
c.434T>G (p.Phe145Cys)
19g.13235708A>GCA404337050CACNA1Ac.4973T>C (p.Phe1658Ser)
c.4979T>C (p.Phe1660Ser)
c.392T>C
n.197T>C
c.134T>C (p.Phe45Ser)
n.178T>C
c.4976T>C (p.Phe1659Ser)
n.962T>C
c.288T>C
c.4982T>C (p.Phe1661Ser)
c.269T>C (p.Phe90Ser)
c.4991T>C (p.Phe1664Ser)
c.4835T>C (p.Phe1612Ser)
c.233T>C
n.366T>C
c.377T>C (p.Phe126Ser)
c.5177T>C (p.Phe1726Ser)
c.1031T>C (p.Phe344Ser)
c.434T>C (p.Phe145Ser)
19g.13235708A>TCA404337054CACNA1Ac.4973T>A (p.Phe1658Tyr)
c.4979T>A (p.Phe1660Tyr)
c.392T>A
n.197T>A
c.134T>A (p.Phe45Tyr)
n.178T>A
c.4976T>A (p.Phe1659Tyr)
n.962T>A
c.288T>A
c.4982T>A (p.Phe1661Tyr)
c.269T>A (p.Phe90Tyr)
c.4991T>A (p.Phe1664Tyr)
c.4835T>A (p.Phe1612Tyr)
c.233T>A
n.366T>A
c.377T>A (p.Phe126Tyr)
c.5177T>A (p.Phe1726Tyr)
c.1031T>A (p.Phe344Tyr)
c.434T>A (p.Phe145Tyr)
19g.13235709A>CCA404337058CACNA1Ac.4972T>G (p.Phe1658Val)
c.4978T>G (p.Phe1660Val)
c.391T>G
n.196T>G
c.133T>G (p.Phe45Val)
n.177T>G
c.4975T>G (p.Phe1659Val)
n.961T>G
c.287T>G
c.4981T>G (p.Phe1661Val)
c.268T>G (p.Phe90Val)
c.4990T>G (p.Phe1664Val)
c.4834T>G (p.Phe1612Val)
c.232T>G
n.365T>G
c.376T>G (p.Phe126Val)
c.5176T>G (p.Phe1726Val)
c.1030T>G (p.Phe344Val)
c.433T>G (p.Phe145Val)
19g.13235709A>GCA404337060CACNA1Ac.4972T>C (p.Phe1658Leu)
c.4978T>C (p.Phe1660Leu)
c.391T>C
n.196T>C
c.133T>C (p.Phe45Leu)
n.177T>C
c.4975T>C (p.Phe1659Leu)
n.961T>C
c.287T>C
c.4981T>C (p.Phe1661Leu)
c.268T>C (p.Phe90Leu)
c.4990T>C (p.Phe1664Leu)
c.4834T>C (p.Phe1612Leu)
c.232T>C
n.365T>C
c.376T>C (p.Phe126Leu)
c.5176T>C (p.Phe1726Leu)
c.1030T>C (p.Phe344Leu)
c.433T>C (p.Phe145Leu)
19g.13235709A>TCA404337062CACNA1Ac.4972T>A (p.Phe1658Ile)
c.4978T>A (p.Phe1660Ile)
c.391T>A
n.196T>A
c.133T>A (p.Phe45Ile)
n.177T>A
c.4975T>A (p.Phe1659Ile)
n.961T>A
c.287T>A
c.4981T>A (p.Phe1661Ile)
c.268T>A (p.Phe90Ile)
c.4990T>A (p.Phe1664Ile)
c.4834T>A (p.Phe1612Ile)
c.232T>A
n.365T>A
c.376T>A (p.Phe126Ile)
c.5176T>A (p.Phe1726Ile)
c.1030T>A (p.Phe344Ile)
c.433T>A (p.Phe145Ile)
19g.13235710G>ACA505658820CACNA1Ac.4971C>T (p.Ser1657=)
c.4977C>T (p.Ser1659=)
c.390C>T
n.195C>T
c.132C>T (p.Ser44=)
n.176C>T
c.4974C>T (p.Ser1658=)
n.960C>T
c.286C>T
c.4980C>T (p.Ser1660=)
c.267C>T (p.Ser89=)
c.4989C>T (p.Ser1663=)
c.4833C>T (p.Ser1611=)
c.231C>T
n.364C>T
c.375C>T (p.Ser125=)
c.5175C>T (p.Ser1725=)
c.1029C>T (p.Ser343=)
c.432C>T (p.Ser144=)
 COSMIC COSMIC COSMIC COSMIC
19g.13235710G>CCA404337065CACNA1Ac.4971C>G (p.Ser1657Arg)
c.4977C>G (p.Ser1659Arg)
c.390C>G
n.195C>G
c.132C>G (p.Ser44Arg)
n.176C>G
c.4974C>G (p.Ser1658Arg)
n.960C>G
c.286C>G
c.4980C>G (p.Ser1660Arg)
c.267C>G (p.Ser89Arg)
c.4989C>G (p.Ser1663Arg)
c.4833C>G (p.Ser1611Arg)
c.231C>G
n.364C>G
c.375C>G (p.Ser125Arg)
c.5175C>G (p.Ser1725Arg)
c.1029C>G (p.Ser343Arg)
c.432C>G (p.Ser144Arg)
19g.13235710G>TCA404337066CACNA1Ac.4971C>A (p.Ser1657Arg)
c.4977C>A (p.Ser1659Arg)
c.390C>A
n.195C>A
c.132C>A (p.Ser44Arg)
n.176C>A
c.4974C>A (p.Ser1658Arg)
n.960C>A
c.286C>A
c.4980C>A (p.Ser1660Arg)
c.267C>A (p.Ser89Arg)
c.4989C>A (p.Ser1663Arg)
c.4833C>A (p.Ser1611Arg)
c.231C>A
n.364C>A
c.375C>A (p.Ser125Arg)
c.5175C>A (p.Ser1725Arg)
c.1029C>A (p.Ser343Arg)
c.432C>A (p.Ser144Arg)
19g.13235711C>ACA404337067CACNA1Ac.4970G>T (p.Ser1657Ile)
c.4976G>T (p.Ser1659Ile)
c.389G>T
n.194G>T
c.131G>T (p.Ser44Ile)
n.175G>T
c.4973G>T (p.Ser1658Ile)
n.959G>T
c.285G>T
c.4979G>T (p.Ser1660Ile)
c.266G>T (p.Ser89Ile)
c.4988G>T (p.Ser1663Ile)
c.4832G>T (p.Ser1611Ile)
c.230G>T
n.363G>T
c.374G>T (p.Ser125Ile)
c.5174G>T (p.Ser1725Ile)
c.1028G>T (p.Ser343Ile)
c.431G>T (p.Ser144Ile)
 ClinVar
19g.13235711C>GCA404337069CACNA1Ac.4970G>C (p.Ser1657Thr)
c.4976G>C (p.Ser1659Thr)
c.389G>C
n.194G>C
c.131G>C (p.Ser44Thr)
n.175G>C
c.4973G>C (p.Ser1658Thr)
n.959G>C
c.285G>C
c.4979G>C (p.Ser1660Thr)
c.266G>C (p.Ser89Thr)
c.4988G>C (p.Ser1663Thr)
c.4832G>C (p.Ser1611Thr)
c.230G>C
n.363G>C
c.374G>C (p.Ser125Thr)
c.5174G>C (p.Ser1725Thr)
c.1028G>C (p.Ser343Thr)
c.431G>C (p.Ser144Thr)
19g.13235711C>TCA404337071CACNA1Ac.4970G>A (p.Ser1657Asn)
c.4976G>A (p.Ser1659Asn)
c.389G>A
n.194G>A
c.131G>A (p.Ser44Asn)
n.175G>A
c.4973G>A (p.Ser1658Asn)
n.959G>A
c.285G>A
c.4979G>A (p.Ser1660Asn)
c.266G>A (p.Ser89Asn)
c.4988G>A (p.Ser1663Asn)
c.4832G>A (p.Ser1611Asn)
c.230G>A
n.363G>A
c.374G>A (p.Ser125Asn)
c.5174G>A (p.Ser1725Asn)
c.1028G>A (p.Ser343Asn)
c.431G>A (p.Ser144Asn)
19g.13235712T>ACA404337078CACNA1Ac.4969A>T (p.Ser1657Cys)
c.4975A>T (p.Ser1659Cys)
c.388A>T
n.193A>T
c.130A>T (p.Ser44Cys)
n.174A>T
c.4972A>T (p.Ser1658Cys)
n.958A>T
c.284A>T
c.4978A>T (p.Ser1660Cys)
c.265A>T (p.Ser89Cys)
c.4987A>T (p.Ser1663Cys)
c.4831A>T (p.Ser1611Cys)
c.229A>T
n.362A>T
c.373A>T (p.Ser125Cys)
c.5173A>T (p.Ser1725Cys)
c.1027A>T (p.Ser343Cys)
c.430A>T (p.Ser144Cys)
19g.13235712T>CCA404337073CACNA1Ac.4969A>G (p.Ser1657Gly)
c.4975A>G (p.Ser1659Gly)
c.388A>G
n.193A>G
c.130A>G (p.Ser44Gly)
n.174A>G
c.4972A>G (p.Ser1658Gly)
n.958A>G
c.284A>G
c.4978A>G (p.Ser1660Gly)
c.265A>G (p.Ser89Gly)
c.4987A>G (p.Ser1663Gly)
c.4831A>G (p.Ser1611Gly)
c.229A>G
n.362A>G
c.373A>G (p.Ser125Gly)
c.5173A>G (p.Ser1725Gly)
c.1027A>G (p.Ser343Gly)
c.430A>G (p.Ser144Gly)
19g.13235712T>GCA404337076CACNA1Ac.4969A>C (p.Ser1657Arg)
c.4975A>C (p.Ser1659Arg)
c.388A>C
n.193A>C
c.130A>C (p.Ser44Arg)
n.174A>C
c.4972A>C (p.Ser1658Arg)
n.958A>C
c.284A>C
c.4978A>C (p.Ser1660Arg)
c.265A>C (p.Ser89Arg)
c.4987A>C (p.Ser1663Arg)
c.4831A>C (p.Ser1611Arg)
c.229A>C
n.362A>C
c.373A>C (p.Ser125Arg)
c.5173A>C (p.Ser1725Arg)
c.1027A>C (p.Ser343Arg)
c.430A>C (p.Ser144Arg)
19g.13235714_13235731delCA2697556335CACNA1Ac.4952_4969del
c.4958_4975del
c.371_388del
n.176_193del
c.113_130del
n.157_174del
c.4955_4972del
n.941_958del
c.267_284del
c.4961_4978del
c.248_265del
c.4970_4987del
c.4814_4831del
c.212_229del
n.345_362del
c.356_373del
c.5156_5173del
c.1010_1027del
c.413_430del
 ClinVar
19g.13235713C>ACA505658823CACNA1Ac.4968G>T (p.Leu1656=)
c.4974G>T (p.Leu1658=)
c.387G>T
n.192G>T
c.129G>T (p.Leu43=)
n.173G>T
c.4971G>T (p.Leu1657=)
n.957G>T
c.283G>T
c.4977G>T (p.Leu1659=)
c.264G>T (p.Leu88=)
c.4986G>T (p.Leu1662=)
c.4830G>T (p.Leu1610=)
c.228G>T
n.361G>T
c.372G>T (p.Leu124=)
c.5172G>T (p.Leu1724=)
c.1026G>T (p.Leu342=)
c.429G>T (p.Leu143=)
19g.13235713C>GCA505658822CACNA1Ac.4968G>C (p.Leu1656=)
c.4974G>C (p.Leu1658=)
c.387G>C
n.192G>C
c.129G>C (p.Leu43=)
n.173G>C
c.4971G>C (p.Leu1657=)
n.957G>C
c.283G>C
c.4977G>C (p.Leu1659=)
c.264G>C (p.Leu88=)
c.4986G>C (p.Leu1662=)
c.4830G>C (p.Leu1610=)
c.228G>C
n.361G>C
c.372G>C (p.Leu124=)
c.5172G>C (p.Leu1724=)
c.1026G>C (p.Leu342=)
c.429G>C (p.Leu143=)
 gnomAD v4
19g.13235713C>TCA505658821CACNA1Ac.4968G>A (p.Leu1656=)
c.4974G>A (p.Leu1658=)
c.387G>A
n.192G>A
c.129G>A (p.Leu43=)
n.173G>A
c.4971G>A (p.Leu1657=)
n.957G>A
c.283G>A
c.4977G>A (p.Leu1659=)
c.264G>A (p.Leu88=)
c.4986G>A (p.Leu1662=)
c.4830G>A (p.Leu1610=)
c.228G>A
n.361G>A
c.372G>A (p.Leu124=)
c.5172G>A (p.Leu1724=)
c.1026G>A (p.Leu342=)
c.429G>A (p.Leu143=)
 gnomAD v4
19g.13235714A=CA2323795787CACNA1Ac.4967T= (p.Leu1656=)
c.4973T= (p.Leu1658=)
c.386T=
n.191T=
c.128T= (p.Leu43=)
n.172T=
c.4970T= (p.Leu1657=)
n.956T=
c.282T=
c.4976T= (p.Leu1659=)
c.263T= (p.Leu88=)
c.4985T= (p.Leu1662=)
c.4829T= (p.Leu1610=)
c.227T=
n.360T=
c.371T= (p.Leu124=)
c.5171T= (p.Leu1724=)
c.1025T= (p.Leu342=)
c.428T= (p.Leu143=)
19g.13235714A>CCA404337083CACNA1Ac.4967T>G (p.Leu1656Arg)
c.4973T>G (p.Leu1658Arg)
c.386T>G
n.191T>G
c.128T>G (p.Leu43Arg)
n.172T>G
c.4970T>G (p.Leu1657Arg)
n.956T>G
c.282T>G
c.4976T>G (p.Leu1659Arg)
c.263T>G (p.Leu88Arg)
c.4985T>G (p.Leu1662Arg)
c.4829T>G (p.Leu1610Arg)
c.227T>G
n.360T>G
c.371T>G (p.Leu124Arg)
c.5171T>G (p.Leu1724Arg)
c.1025T>G (p.Leu342Arg)
c.428T>G (p.Leu143Arg)
 gnomAD v4
19g.13235714A>GCA9239859CACNA1Ac.4967T>C (p.Leu1656Pro)
c.4973T>C (p.Leu1658Pro)
c.386T>C
n.191T>C
c.128T>C (p.Leu43Pro)
n.172T>C
c.4970T>C (p.Leu1657Pro)
n.956T>C
c.282T>C
c.4976T>C (p.Leu1659Pro)
c.263T>C (p.Leu88Pro)
c.4985T>C (p.Leu1662Pro)
c.4829T>C (p.Leu1610Pro)
c.227T>C
n.360T>C
c.371T>C (p.Leu124Pro)
c.5171T>C (p.Leu1724Pro)
c.1025T>C (p.Leu342Pro)
c.428T>C (p.Leu143Pro)
 dbSNP ExAC gnomAD v2
19g.13235714A>TCA404337087CACNA1Ac.4967T>A (p.Leu1656Gln)
c.4973T>A (p.Leu1658Gln)
c.386T>A
n.191T>A
c.128T>A (p.Leu43Gln)
n.172T>A
c.4970T>A (p.Leu1657Gln)
n.956T>A
c.282T>A
c.4976T>A (p.Leu1659Gln)
c.263T>A (p.Leu88Gln)
c.4985T>A (p.Leu1662Gln)
c.4829T>A (p.Leu1610Gln)
c.227T>A
n.360T>A
c.371T>A (p.Leu124Gln)
c.5171T>A (p.Leu1724Gln)
c.1025T>A (p.Leu342Gln)
c.428T>A (p.Leu143Gln)
19g.13235715G>ACA9239860CACNA1Ac.4966C>T (p.Leu1656=)
c.4972C>T (p.Leu1658=)
c.385C>T
n.190C>T
c.127C>T (p.Leu43=)
n.171C>T
c.4969C>T (p.Leu1657=)
n.955C>T
c.281C>T
c.4975C>T (p.Leu1659=)
c.262C>T (p.Leu88=)
c.4984C>T (p.Leu1662=)
c.4828C>T (p.Leu1610=)
c.226C>T
n.359C>T
c.370C>T (p.Leu124=)
c.5170C>T (p.Leu1724=)
c.1024C>T (p.Leu342=)
c.427C>T (p.Leu143=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13235715G>CCA404337091CACNA1Ac.4966C>G (p.Leu1656Val)
c.4972C>G (p.Leu1658Val)
c.385C>G
n.190C>G
c.127C>G (p.Leu43Val)
n.171C>G
c.4969C>G (p.Leu1657Val)
n.955C>G
c.281C>G
c.4975C>G (p.Leu1659Val)
c.262C>G (p.Leu88Val)
c.4984C>G (p.Leu1662Val)
c.4828C>G (p.Leu1610Val)
c.226C>G
n.359C>G
c.370C>G (p.Leu124Val)
c.5170C>G (p.Leu1724Val)
c.1024C>G (p.Leu342Val)
c.427C>G (p.Leu143Val)
19g.13235715G=CA2323795788CACNA1Ac.4966C= (p.Leu1656=)
c.4972C= (p.Leu1658=)
c.385C=
n.190C=
c.127C= (p.Leu43=)
n.171C=
c.4969C= (p.Leu1657=)
n.955C=
c.281C=
c.4975C= (p.Leu1659=)
c.262C= (p.Leu88=)
c.4984C= (p.Leu1662=)
c.4828C= (p.Leu1610=)
c.226C=
n.359C=
c.370C= (p.Leu124=)
c.5170C= (p.Leu1724=)
c.1024C= (p.Leu342=)
c.427C= (p.Leu143=)
19g.13235715G>TCA404337096CACNA1Ac.4966C>A (p.Leu1656Met)
c.4972C>A (p.Leu1658Met)
c.385C>A
n.190C>A
c.127C>A (p.Leu43Met)
n.171C>A
c.4969C>A (p.Leu1657Met)
n.955C>A
c.281C>A
c.4975C>A (p.Leu1659Met)
c.262C>A (p.Leu88Met)
c.4984C>A (p.Leu1662Met)
c.4828C>A (p.Leu1610Met)
c.226C>A
n.359C>A
c.370C>A (p.Leu124Met)
c.5170C>A (p.Leu1724Met)
c.1024C>A (p.Leu342Met)
c.427C>A (p.Leu143Met)
19g.13235716G>ACA505658824CACNA1Ac.4965C>T (p.Asn1655=)
c.4971C>T (p.Asn1657=)
c.384C>T
n.189C>T
c.126C>T (p.Asn42=)
n.170C>T
c.4968C>T (p.Asn1656=)
n.954C>T
c.280C>T
c.4974C>T (p.Asn1658=)
c.261C>T (p.Asn87=)
c.4983C>T (p.Asn1661=)
c.4827C>T (p.Asn1609=)
c.225C>T
n.358C>T
c.369C>T (p.Asn123=)
c.5169C>T (p.Asn1723=)
c.1023C>T (p.Asn341=)
c.426C>T (p.Asn142=)
 gnomAD v4
19g.13235716G>CCA404337100CACNA1Ac.4965C>G (p.Asn1655Lys)
c.4971C>G (p.Asn1657Lys)
c.384C>G
n.189C>G
c.126C>G (p.Asn42Lys)
n.170C>G
c.4968C>G (p.Asn1656Lys)
n.954C>G
c.280C>G
c.4974C>G (p.Asn1658Lys)
c.261C>G (p.Asn87Lys)
c.4983C>G (p.Asn1661Lys)
c.4827C>G (p.Asn1609Lys)
c.225C>G
n.358C>G
c.369C>G (p.Asn123Lys)
c.5169C>G (p.Asn1723Lys)
c.1023C>G (p.Asn341Lys)
c.426C>G (p.Asn142Lys)
19g.13235716G>TCA404337107CACNA1Ac.4965C>A (p.Asn1655Lys)
c.4971C>A (p.Asn1657Lys)
c.384C>A
n.189C>A
c.126C>A (p.Asn42Lys)
n.170C>A
c.4968C>A (p.Asn1656Lys)
n.954C>A
c.280C>A
c.4974C>A (p.Asn1658Lys)
c.261C>A (p.Asn87Lys)
c.4983C>A (p.Asn1661Lys)
c.4827C>A (p.Asn1609Lys)
c.225C>A
n.358C>A
c.369C>A (p.Asn123Lys)
c.5169C>A (p.Asn1723Lys)
c.1023C>A (p.Asn341Lys)
c.426C>A (p.Asn142Lys)

Number of alleles fetched