Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13259576T>ACA404339222CACNA1Ac.4376A>T (p.Glu1459Val)
c.4382A>T (p.Glu1461Val)
n.3130A>T
c.4379A>T (p.Glu1460Val)
n.365A>T
n.868A>T
n.1064A>T
n.659A>T
n.842A>T
c.32A>T (p.Glu11Val)
c.4388A>T (p.Glu1463Val)
n.698A>T
c.4238A>T (p.Glu1413Val)
c.4574A>T (p.Glu1525Val)
c.434A>T (p.Glu145Val)
19g.13259576T>CCA404339224CACNA1Ac.4376A>G (p.Glu1459Gly)
c.4382A>G (p.Glu1461Gly)
n.3130A>G
c.4379A>G (p.Glu1460Gly)
n.365A>G
n.868A>G
n.1064A>G
n.659A>G
n.842A>G
c.32A>G (p.Glu11Gly)
c.4388A>G (p.Glu1463Gly)
n.698A>G
c.4238A>G (p.Glu1413Gly)
c.4574A>G (p.Glu1525Gly)
c.434A>G (p.Glu145Gly)
19g.13259576T>GCA404339223CACNA1Ac.4376A>C (p.Glu1459Ala)
c.4382A>C (p.Glu1461Ala)
n.3130A>C
c.4379A>C (p.Glu1460Ala)
n.365A>C
n.868A>C
n.1064A>C
n.659A>C
n.842A>C
c.32A>C (p.Glu11Ala)
c.4388A>C (p.Glu1463Ala)
n.698A>C
c.4238A>C (p.Glu1413Ala)
c.4574A>C (p.Glu1525Ala)
c.434A>C (p.Glu145Ala)
19g.13259577C>ACA404339225CACNA1Ac.4375G>T (p.Glu1459Ter)
c.4381G>T (p.Glu1461Ter)
n.3129G>T
c.4378G>T (p.Glu1460Ter)
n.364G>T
n.867G>T
n.1063G>T
n.658G>T
n.841G>T
c.31G>T (p.Glu11Ter)
c.4387G>T (p.Glu1463Ter)
n.697G>T
c.4237G>T (p.Glu1413Ter)
c.4573G>T (p.Glu1525Ter)
c.433G>T (p.Glu145Ter)
19g.13259577C>GCA404339227CACNA1Ac.4375G>C (p.Glu1459Gln)
c.4381G>C (p.Glu1461Gln)
n.3129G>C
c.4378G>C (p.Glu1460Gln)
n.364G>C
n.867G>C
n.1063G>C
n.658G>C
n.841G>C
c.31G>C (p.Glu11Gln)
c.4387G>C (p.Glu1463Gln)
n.697G>C
c.4237G>C (p.Glu1413Gln)
c.4573G>C (p.Glu1525Gln)
c.433G>C (p.Glu145Gln)
19g.13259577C>TCA404339226CACNA1Ac.4375G>A (p.Glu1459Lys)
c.4381G>A (p.Glu1461Lys)
n.3129G>A
c.4378G>A (p.Glu1460Lys)
n.364G>A
n.867G>A
n.1063G>A
n.658G>A
n.841G>A
c.31G>A (p.Glu11Lys)
c.4387G>A (p.Glu1463Lys)
n.697G>A
c.4237G>A (p.Glu1413Lys)
c.4573G>A (p.Glu1525Lys)
c.433G>A (p.Glu145Lys)
19g.13259578T>ACA505659735CACNA1Ac.4374A>T (p.Gly1458=)
c.4380A>T (p.Gly1460=)
n.3128A>T
c.4377A>T (p.Gly1459=)
n.363A>T
n.866A>T
n.1062A>T
n.657A>T
n.840A>T
c.30A>T (p.Gly10=)
c.4386A>T (p.Gly1462=)
n.696A>T
c.4236A>T (p.Gly1412=)
c.4572A>T (p.Gly1524=)
c.432A>T (p.Gly144=)
19g.13259578T>CCA505659737CACNA1Ac.4374A>G (p.Gly1458=)
c.4380A>G (p.Gly1460=)
n.3128A>G
c.4377A>G (p.Gly1459=)
n.363A>G
n.866A>G
n.1062A>G
n.657A>G
n.840A>G
c.30A>G (p.Gly10=)
c.4386A>G (p.Gly1462=)
n.696A>G
c.4236A>G (p.Gly1412=)
c.4572A>G (p.Gly1524=)
c.432A>G (p.Gly144=)
 gnomAD v4
19g.13259578T>GCA505659738CACNA1Ac.4374A>C (p.Gly1458=)
c.4380A>C (p.Gly1460=)
n.3128A>C
c.4377A>C (p.Gly1459=)
n.363A>C
n.866A>C
n.1062A>C
n.657A>C
n.840A>C
c.30A>C (p.Gly10=)
c.4386A>C (p.Gly1462=)
n.696A>C
c.4236A>C (p.Gly1412=)
c.4572A>C (p.Gly1524=)
c.432A>C (p.Gly144=)
19g.13259579C>ACA404339228CACNA1Ac.4373G>T (p.Gly1458Val)
c.4379G>T (p.Gly1460Val)
n.3127G>T
c.4376G>T (p.Gly1459Val)
n.362G>T
n.865G>T
n.1061G>T
n.656G>T
n.839G>T
c.29G>T (p.Gly10Val)
c.4385G>T (p.Gly1462Val)
n.695G>T
c.4235G>T (p.Gly1412Val)
c.4571G>T (p.Gly1524Val)
c.431G>T (p.Gly144Val)
19g.13259579C=CA2323807476CACNA1Ac.4373G= (p.Gly1458=)
c.4379G= (p.Gly1460=)
n.3127G=
c.4376G= (p.Gly1459=)
n.362G=
n.865G=
n.1061G=
n.656G=
n.839G=
c.29G= (p.Gly10=)
c.4385G= (p.Gly1462=)
n.695G=
c.4235G= (p.Gly1412=)
c.4571G= (p.Gly1524=)
c.431G= (p.Gly144=)
19g.13259579C>GCA404339229CACNA1Ac.4373G>C (p.Gly1458Ala)
c.4379G>C (p.Gly1460Ala)
n.3127G>C
c.4376G>C (p.Gly1459Ala)
n.362G>C
n.865G>C
n.1061G>C
n.656G>C
n.839G>C
c.29G>C (p.Gly10Ala)
c.4385G>C (p.Gly1462Ala)
n.695G>C
c.4235G>C (p.Gly1412Ala)
c.4571G>C (p.Gly1524Ala)
c.431G>C (p.Gly144Ala)
19g.13259579C>TCA404339230CACNA1Ac.4373G>A (p.Gly1458Glu)
c.4379G>A (p.Gly1460Glu)
n.3127G>A
c.4376G>A (p.Gly1459Glu)
n.362G>A
n.865G>A
n.1061G>A
n.656G>A
n.839G>A
c.29G>A (p.Gly10Glu)
c.4385G>A (p.Gly1462Glu)
n.695G>A
c.4235G>A (p.Gly1412Glu)
c.4571G>A (p.Gly1524Glu)
c.431G>A (p.Gly144Glu)
 dbSNP gnomAD v2
19g.13259580C>ACA404339231CACNA1Ac.4372G>T (p.Gly1458Ter)
c.4378G>T (p.Gly1460Ter)
n.3126G>T
c.4375G>T (p.Gly1459Ter)
n.361G>T
n.864G>T
n.1060G>T
n.655G>T
n.838G>T
c.28G>T (p.Gly10Ter)
c.4384G>T (p.Gly1462Ter)
n.694G>T
c.4234G>T (p.Gly1412Ter)
c.4570G>T (p.Gly1524Ter)
c.430G>T (p.Gly144Ter)
 gnomAD v4
19g.13259580C>GCA404339232CACNA1Ac.4372G>C (p.Gly1458Arg)
c.4378G>C (p.Gly1460Arg)
n.3126G>C
c.4375G>C (p.Gly1459Arg)
n.361G>C
n.864G>C
n.1060G>C
n.655G>C
n.838G>C
c.28G>C (p.Gly10Arg)
c.4384G>C (p.Gly1462Arg)
n.694G>C
c.4234G>C (p.Gly1412Arg)
c.4570G>C (p.Gly1524Arg)
c.430G>C (p.Gly144Arg)
19g.13259580C>TCA404339233CACNA1Ac.4372G>A (p.Gly1458Arg)
c.4378G>A (p.Gly1460Arg)
n.3126G>A
c.4375G>A (p.Gly1459Arg)
n.361G>A
n.864G>A
n.1060G>A
n.655G>A
n.838G>A
c.28G>A (p.Gly10Arg)
c.4384G>A (p.Gly1462Arg)
n.694G>A
c.4234G>A (p.Gly1412Arg)
c.4570G>A (p.Gly1524Arg)
c.430G>A (p.Gly144Arg)
 gnomAD v4
19g.13259581C>ACA505659739CACNA1Ac.4371G>T (p.Thr1457=)
c.4377G>T (p.Thr1459=)
n.3125G>T
c.4374G>T (p.Thr1458=)
n.360G>T
n.863G>T
n.1059G>T
n.654G>T
n.837G>T
c.27G>T (p.Thr9=)
c.4383G>T (p.Thr1461=)
n.693G>T
c.4233G>T (p.Thr1411=)
c.4569G>T (p.Thr1523=)
c.429G>T (p.Thr143=)
 gnomAD v4
19g.13259581C=CA2323807477CACNA1Ac.4371G= (p.Thr1457=)
c.4377G= (p.Thr1459=)
n.3125G=
c.4374G= (p.Thr1458=)
n.360G=
n.863G=
n.1059G=
n.654G=
n.837G=
c.27G= (p.Thr9=)
c.4383G= (p.Thr1461=)
n.693G=
c.4233G= (p.Thr1411=)
c.4569G= (p.Thr1523=)
c.429G= (p.Thr143=)
19g.13259581C>GCA505659740CACNA1Ac.4371G>C (p.Thr1457=)
c.4377G>C (p.Thr1459=)
n.3125G>C
c.4374G>C (p.Thr1458=)
n.360G>C
n.863G>C
n.1059G>C
n.654G>C
n.837G>C
c.27G>C (p.Thr9=)
c.4383G>C (p.Thr1461=)
n.693G>C
c.4233G>C (p.Thr1411=)
c.4569G>C (p.Thr1523=)
c.429G>C (p.Thr143=)
19g.13259581C>TCA9240028CACNA1Ac.4371G>A (p.Thr1457=)
c.4377G>A (p.Thr1459=)
n.3125G>A
c.4374G>A (p.Thr1458=)
n.360G>A
n.863G>A
n.1059G>A
n.654G>A
n.837G>A
c.27G>A (p.Thr9=)
c.4383G>A (p.Thr1461=)
n.693G>A
c.4233G>A (p.Thr1411=)
c.4569G>A (p.Thr1523=)
c.429G>A (p.Thr143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259582G>ACA404339234CACNA1Ac.4370C>T (p.Thr1457Met)
c.4376C>T (p.Thr1459Met)
n.3124C>T
c.4373C>T (p.Thr1458Met)
n.359C>T
n.862C>T
n.1058C>T
n.653C>T
n.836C>T
c.26C>T (p.Thr9Met)
c.4382C>T (p.Thr1461Met)
n.692C>T
c.4232C>T (p.Thr1411Met)
c.4568C>T (p.Thr1523Met)
c.428C>T (p.Thr143Met)
 ClinVar dbSNP gnomAD v4
19g.13259582G>CCA404339235CACNA1Ac.4370C>G (p.Thr1457Arg)
c.4376C>G (p.Thr1459Arg)
n.3124C>G
c.4373C>G (p.Thr1458Arg)
n.359C>G
n.862C>G
n.1058C>G
n.653C>G
n.836C>G
c.26C>G (p.Thr9Arg)
c.4382C>G (p.Thr1461Arg)
n.692C>G
c.4232C>G (p.Thr1411Arg)
c.4568C>G (p.Thr1523Arg)
c.428C>G (p.Thr143Arg)
19g.13259582G=CA2323807478CACNA1Ac.4370C= (p.Thr1457=)
c.4376C= (p.Thr1459=)
n.3124C=
c.4373C= (p.Thr1458=)
n.359C=
n.862C=
n.1058C=
n.653C=
n.836C=
c.26C= (p.Thr9=)
c.4382C= (p.Thr1461=)
n.692C=
c.4232C= (p.Thr1411=)
c.4568C= (p.Thr1523=)
c.428C= (p.Thr143=)
19g.13259582G>TCA404339236CACNA1Ac.4370C>A (p.Thr1457Lys)
c.4376C>A (p.Thr1459Lys)
n.3124C>A
c.4373C>A (p.Thr1458Lys)
n.359C>A
n.862C>A
n.1058C>A
n.653C>A
n.836C>A
c.26C>A (p.Thr9Lys)
c.4382C>A (p.Thr1461Lys)
n.692C>A
c.4232C>A (p.Thr1411Lys)
c.4568C>A (p.Thr1523Lys)
c.428C>A (p.Thr143Lys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13259583T>ACA404339237CACNA1Ac.4369A>T (p.Thr1457Ser)
c.4375A>T (p.Thr1459Ser)
n.3123A>T
c.4372A>T (p.Thr1458Ser)
n.358A>T
n.861A>T
n.1057A>T
n.652A>T
n.835A>T
c.25A>T (p.Thr9Ser)
c.4381A>T (p.Thr1461Ser)
n.691A>T
c.4231A>T (p.Thr1411Ser)
c.4567A>T (p.Thr1523Ser)
c.427A>T (p.Thr143Ser)
19g.13259583T>CCA404339238CACNA1Ac.4369A>G (p.Thr1457Ala)
c.4375A>G (p.Thr1459Ala)
n.3123A>G
c.4372A>G (p.Thr1458Ala)
n.358A>G
n.861A>G
n.1057A>G
n.652A>G
n.835A>G
c.25A>G (p.Thr9Ala)
c.4381A>G (p.Thr1461Ala)
n.691A>G
c.4231A>G (p.Thr1411Ala)
c.4567A>G (p.Thr1523Ala)
c.427A>G (p.Thr143Ala)
19g.13259583T>GCA404339239CACNA1Ac.4369A>C (p.Thr1457Pro)
c.4375A>C (p.Thr1459Pro)
n.3123A>C
c.4372A>C (p.Thr1458Pro)
n.358A>C
n.861A>C
n.1057A>C
n.652A>C
n.835A>C
c.25A>C (p.Thr9Pro)
c.4381A>C (p.Thr1461Pro)
n.691A>C
c.4231A>C (p.Thr1411Pro)
c.4567A>C (p.Thr1523Pro)
c.427A>C (p.Thr143Pro)
19g.13259584G>ACA505659742CACNA1Ac.4368C>T (p.Ser1456=)
c.4374C>T (p.Ser1458=)
n.3122C>T
c.4371C>T (p.Ser1457=)
n.357C>T
n.860C>T
n.1056C>T
n.651C>T
n.834C>T
c.24C>T (p.Ser8=)
c.4380C>T (p.Ser1460=)
n.690C>T
c.4230C>T (p.Ser1410=)
c.4566C>T (p.Ser1522=)
c.426C>T (p.Ser142=)
 gnomAD v4
19g.13259584G>CCA505659743CACNA1Ac.4368C>G (p.Ser1456=)
c.4374C>G (p.Ser1458=)
n.3122C>G
c.4371C>G (p.Ser1457=)
n.357C>G
n.860C>G
n.1056C>G
n.651C>G
n.834C>G
c.24C>G (p.Ser8=)
c.4380C>G (p.Ser1460=)
n.690C>G
c.4230C>G (p.Ser1410=)
c.4566C>G (p.Ser1522=)
c.426C>G (p.Ser142=)
19g.13259584G=CA2323807479CACNA1Ac.4368C= (p.Ser1456=)
c.4374C= (p.Ser1458=)
n.3122C=
c.4371C= (p.Ser1457=)
n.357C=
n.860C=
n.1056C=
n.651C=
n.834C=
c.24C= (p.Ser8=)
c.4380C= (p.Ser1460=)
n.690C=
c.4230C= (p.Ser1410=)
c.4566C= (p.Ser1522=)
c.426C= (p.Ser142=)
19g.13259584G>TCA505659744CACNA1Ac.4368C>A (p.Ser1456=)
c.4374C>A (p.Ser1458=)
n.3122C>A
c.4371C>A (p.Ser1457=)
n.357C>A
n.860C>A
n.1056C>A
n.651C>A
n.834C>A
c.24C>A (p.Ser8=)
c.4380C>A (p.Ser1460=)
n.690C>A
c.4230C>A (p.Ser1410=)
c.4566C>A (p.Ser1522=)
c.426C>A (p.Ser142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259585G>ACA404339242CACNA1Ac.4367C>T (p.Ser1456Phe)
c.4373C>T (p.Ser1458Phe)
n.3121C>T
c.4370C>T (p.Ser1457Phe)
n.356C>T
n.859C>T
n.1055C>T
n.650C>T
n.833C>T
c.23C>T (p.Ser8Phe)
c.4379C>T (p.Ser1460Phe)
n.689C>T
c.4229C>T (p.Ser1410Phe)
c.4565C>T (p.Ser1522Phe)
c.425C>T (p.Ser142Phe)
 gnomAD v4
19g.13259585G>CCA404339241CACNA1Ac.4367C>G (p.Ser1456Cys)
c.4373C>G (p.Ser1458Cys)
n.3121C>G
c.4370C>G (p.Ser1457Cys)
n.356C>G
n.859C>G
n.1055C>G
n.650C>G
n.833C>G
c.23C>G (p.Ser8Cys)
c.4379C>G (p.Ser1460Cys)
n.689C>G
c.4229C>G (p.Ser1410Cys)
c.4565C>G (p.Ser1522Cys)
c.425C>G (p.Ser142Cys)
19g.13259585G>TCA404339240CACNA1Ac.4367C>A (p.Ser1456Tyr)
c.4373C>A (p.Ser1458Tyr)
n.3121C>A
c.4370C>A (p.Ser1457Tyr)
n.356C>A
n.859C>A
n.1055C>A
n.650C>A
n.833C>A
c.23C>A (p.Ser8Tyr)
c.4379C>A (p.Ser1460Tyr)
n.689C>A
c.4229C>A (p.Ser1410Tyr)
c.4565C>A (p.Ser1522Tyr)
c.425C>A (p.Ser142Tyr)
19g.13259586delCA2573156115CACNA1Ac.4366del (p.Ser1456ProfsTer?)
c.4372del (p.Ser1458ProfsTer?)
n.3120del
c.4369del (p.Ser1457ProfsTer?)
n.355del
n.858del
n.1054del
n.649del
n.832del
c.22del (p.Ser8ProfsTer?)
c.4378del (p.Ser1460ProfsTer?)
n.688del
c.4228del (p.Ser1410ProfsTer?)
c.4564del (p.Ser1522ProfsTer?)
c.424del (p.Ser142ProfsTer?)
 ClinVar dbSNP
19g.13259586A>CCA404339243CACNA1Ac.4366T>G (p.Ser1456Ala)
c.4372T>G (p.Ser1458Ala)
n.3120T>G
c.4369T>G (p.Ser1457Ala)
n.355T>G
n.858T>G
n.1054T>G
n.649T>G
n.832T>G
c.22T>G (p.Ser8Ala)
c.4378T>G (p.Ser1460Ala)
n.688T>G
c.4228T>G (p.Ser1410Ala)
c.4564T>G (p.Ser1522Ala)
c.424T>G (p.Ser142Ala)
19g.13259586A>GCA404339244CACNA1Ac.4366T>C (p.Ser1456Pro)
c.4372T>C (p.Ser1458Pro)
n.3120T>C
c.4369T>C (p.Ser1457Pro)
n.355T>C
n.858T>C
n.1054T>C
n.649T>C
n.832T>C
c.22T>C (p.Ser8Pro)
c.4378T>C (p.Ser1460Pro)
n.688T>C
c.4228T>C (p.Ser1410Pro)
c.4564T>C (p.Ser1522Pro)
c.424T>C (p.Ser142Pro)
19g.13259586A>TCA404339245CACNA1Ac.4366T>A (p.Ser1456Thr)
c.4372T>A (p.Ser1458Thr)
n.3120T>A
c.4369T>A (p.Ser1457Thr)
n.355T>A
n.858T>A
n.1054T>A
n.649T>A
n.832T>A
c.22T>A (p.Ser8Thr)
c.4378T>A (p.Ser1460Thr)
n.688T>A
c.4228T>A (p.Ser1410Thr)
c.4564T>A (p.Ser1522Thr)
c.424T>A (p.Ser142Thr)
19g.13259587C>ACA505659745CACNA1Ac.4365G>T (p.Val1455=)
c.4371G>T (p.Val1457=)
n.3119G>T
c.4368G>T (p.Val1456=)
n.354G>T
n.857G>T
n.1053G>T
n.648G>T
n.831G>T
c.21G>T (p.Val7=)
c.4377G>T (p.Val1459=)
n.687G>T
c.4227G>T (p.Val1409=)
c.4563G>T (p.Val1521=)
c.423G>T (p.Val141=)
 ClinVar dbSNP gnomAD v4
19g.13259587C>GCA505659748CACNA1Ac.4365G>C (p.Val1455=)
c.4371G>C (p.Val1457=)
n.3119G>C
c.4368G>C (p.Val1456=)
n.354G>C
n.857G>C
n.1053G>C
n.648G>C
n.831G>C
c.21G>C (p.Val7=)
c.4377G>C (p.Val1459=)
n.687G>C
c.4227G>C (p.Val1409=)
c.4563G>C (p.Val1521=)
c.423G>C (p.Val141=)
19g.13259587C>TCA505659746CACNA1Ac.4365G>A (p.Val1455=)
c.4371G>A (p.Val1457=)
n.3119G>A
c.4368G>A (p.Val1456=)
n.354G>A
n.857G>A
n.1053G>A
n.648G>A
n.831G>A
c.21G>A (p.Val7=)
c.4377G>A (p.Val1459=)
n.687G>A
c.4227G>A (p.Val1409=)
c.4563G>A (p.Val1521=)
c.423G>A (p.Val141=)
 COSMIC COSMIC COSMIC COSMIC
19g.13259588A>CCA404339246CACNA1Ac.4364T>G (p.Val1455Gly)
c.4370T>G (p.Val1457Gly)
n.3118T>G
c.4367T>G (p.Val1456Gly)
n.353T>G
n.856T>G
n.1052T>G
n.647T>G
n.830T>G
c.20T>G (p.Val7Gly)
c.4376T>G (p.Val1459Gly)
n.686T>G
c.4226T>G (p.Val1409Gly)
c.4562T>G (p.Val1521Gly)
c.422T>G (p.Val141Gly)
19g.13259588A>GCA404339247CACNA1Ac.4364T>C (p.Val1455Ala)
c.4370T>C (p.Val1457Ala)
n.3118T>C
c.4367T>C (p.Val1456Ala)
n.353T>C
n.856T>C
n.1052T>C
n.647T>C
n.830T>C
c.20T>C (p.Val7Ala)
c.4376T>C (p.Val1459Ala)
n.686T>C
c.4226T>C (p.Val1409Ala)
c.4562T>C (p.Val1521Ala)
c.422T>C (p.Val141Ala)
19g.13259588A>TCA404339248CACNA1Ac.4364T>A (p.Val1455Glu)
c.4370T>A (p.Val1457Glu)
n.3118T>A
c.4367T>A (p.Val1456Glu)
n.353T>A
n.856T>A
n.1052T>A
n.647T>A
n.830T>A
c.20T>A (p.Val7Glu)
c.4376T>A (p.Val1459Glu)
n.686T>A
c.4226T>A (p.Val1409Glu)
c.4562T>A (p.Val1521Glu)
c.422T>A (p.Val141Glu)
19g.13259589C>ACA254466CACNA1Ac.4363G>T (p.Val1455Leu)
c.4369G>T (p.Val1457Leu)
n.3117G>T
c.4366G>T (p.Val1456Leu)
n.352G>T
n.855G>T
n.1051G>T
n.646G>T
n.829G>T
c.19G>T (p.Val7Leu)
c.4375G>T (p.Val1459Leu)
n.685G>T
c.4225G>T (p.Val1409Leu)
c.4561G>T (p.Val1521Leu)
c.421G>T (p.Val141Leu)
 ClinVar dbSNP
19g.13259589C=CA2323807480CACNA1Ac.4363G= (p.Val1455=)
c.4369G= (p.Val1457=)
n.3117G=
c.4366G= (p.Val1456=)
n.352G=
n.855G=
n.1051G=
n.646G=
n.829G=
c.19G= (p.Val7=)
c.4375G= (p.Val1459=)
n.685G=
c.4225G= (p.Val1409=)
c.4561G= (p.Val1521=)
c.421G= (p.Val141=)
19g.13259589C>GCA404339249CACNA1Ac.4363G>C (p.Val1455Leu)
c.4369G>C (p.Val1457Leu)
n.3117G>C
c.4366G>C (p.Val1456Leu)
n.352G>C
n.855G>C
n.1051G>C
n.646G>C
n.829G>C
c.19G>C (p.Val7Leu)
c.4375G>C (p.Val1459Leu)
n.685G>C
c.4225G>C (p.Val1409Leu)
c.4561G>C (p.Val1521Leu)
c.421G>C (p.Val141Leu)
 ClinVar
19g.13259589C>TCA404339250CACNA1Ac.4363G>A (p.Val1455Met)
c.4369G>A (p.Val1457Met)
n.3117G>A
c.4366G>A (p.Val1456Met)
n.352G>A
n.855G>A
n.1051G>A
n.646G>A
n.829G>A
c.19G>A (p.Val7Met)
c.4375G>A (p.Val1459Met)
n.685G>A
c.4225G>A (p.Val1409Met)
c.4561G>A (p.Val1521Met)
c.421G>A (p.Val141Met)
 ClinVar dbSNP gnomAD v4
19g.13259590G>ACA9240029CACNA1Ac.4362C>T (p.Thr1454=)
c.4368C>T (p.Thr1456=)
n.3116C>T
c.4365C>T (p.Thr1455=)
n.351C>T
n.854C>T
n.1050C>T
n.645C>T
n.828C>T
c.18C>T (p.Thr6=)
c.4374C>T (p.Thr1458=)
n.684C>T
c.4224C>T (p.Thr1408=)
c.4560C>T (p.Thr1520=)
c.420C>T (p.Thr140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259590G>CCA505659750CACNA1Ac.4362C>G (p.Thr1454=)
c.4368C>G (p.Thr1456=)
n.3116C>G
c.4365C>G (p.Thr1455=)
n.351C>G
n.854C>G
n.1050C>G
n.645C>G
n.828C>G
c.18C>G (p.Thr6=)
c.4374C>G (p.Thr1458=)
n.684C>G
c.4224C>G (p.Thr1408=)
c.4560C>G (p.Thr1520=)
c.420C>G (p.Thr140=)
 gnomAD v4
19g.13259590G=CA2323807481CACNA1Ac.4362C= (p.Thr1454=)
c.4368C= (p.Thr1456=)
n.3116C=
c.4365C= (p.Thr1455=)
n.351C=
n.854C=
n.1050C=
n.645C=
n.828C=
c.18C= (p.Thr6=)
c.4374C= (p.Thr1458=)
n.684C=
c.4224C= (p.Thr1408=)
c.4560C= (p.Thr1520=)
c.420C= (p.Thr140=)
19g.13259590G>TCA505659751CACNA1Ac.4362C>A (p.Thr1454=)
c.4368C>A (p.Thr1456=)
n.3116C>A
c.4365C>A (p.Thr1455=)
n.351C>A
n.854C>A
n.1050C>A
n.645C>A
n.828C>A
c.18C>A (p.Thr6=)
c.4374C>A (p.Thr1458=)
n.684C>A
c.4224C>A (p.Thr1408=)
c.4560C>A (p.Thr1520=)
c.420C>A (p.Thr140=)
 dbSNP gnomAD v4
19g.13259591G>ACA404339251CACNA1Ac.4361C>T (p.Thr1454Ile)
c.4367C>T (p.Thr1456Ile)
n.3115C>T
c.4364C>T (p.Thr1455Ile)
n.350C>T
n.853C>T
n.1049C>T
n.644C>T
n.827C>T
c.17C>T (p.Thr6Ile)
c.4373C>T (p.Thr1458Ile)
n.683C>T
c.4223C>T (p.Thr1408Ile)
c.4559C>T (p.Thr1520Ile)
c.419C>T (p.Thr140Ile)
 gnomAD v4
19g.13259591G>CCA404339252CACNA1Ac.4361C>G (p.Thr1454Ser)
c.4367C>G (p.Thr1456Ser)
n.3115C>G
c.4364C>G (p.Thr1455Ser)
n.350C>G
n.853C>G
n.1049C>G
n.644C>G
n.827C>G
c.17C>G (p.Thr6Ser)
c.4373C>G (p.Thr1458Ser)
n.683C>G
c.4223C>G (p.Thr1408Ser)
c.4559C>G (p.Thr1520Ser)
c.419C>G (p.Thr140Ser)
19g.13259591G>TCA404339253CACNA1Ac.4361C>A (p.Thr1454Asn)
c.4367C>A (p.Thr1456Asn)
n.3115C>A
c.4364C>A (p.Thr1455Asn)
n.350C>A
n.853C>A
n.1049C>A
n.644C>A
n.827C>A
c.17C>A (p.Thr6Asn)
c.4373C>A (p.Thr1458Asn)
n.683C>A
c.4223C>A (p.Thr1408Asn)
c.4559C>A (p.Thr1520Asn)
c.419C>A (p.Thr140Asn)
 COSMIC COSMIC COSMIC COSMIC
19g.13259592T>ACA404339255CACNA1Ac.4360A>T (p.Thr1454Ser)
c.4366A>T (p.Thr1456Ser)
n.3114A>T
c.4363A>T (p.Thr1455Ser)
n.349A>T
n.852A>T
n.1048A>T
n.643A>T
n.826A>T
c.16A>T (p.Thr6Ser)
c.4372A>T (p.Thr1458Ser)
n.682A>T
c.4222A>T (p.Thr1408Ser)
c.4558A>T (p.Thr1520Ser)
c.418A>T (p.Thr140Ser)
19g.13259592T>CCA404339256CACNA1Ac.4360A>G (p.Thr1454Ala)
c.4366A>G (p.Thr1456Ala)
n.3114A>G
c.4363A>G (p.Thr1455Ala)
n.349A>G
n.852A>G
n.1048A>G
n.643A>G
n.826A>G
c.16A>G (p.Thr6Ala)
c.4372A>G (p.Thr1458Ala)
n.682A>G
c.4222A>G (p.Thr1408Ala)
c.4558A>G (p.Thr1520Ala)
c.418A>G (p.Thr140Ala)
19g.13259592T>GCA404339254CACNA1Ac.4360A>C (p.Thr1454Pro)
c.4366A>C (p.Thr1456Pro)
n.3114A>C
c.4363A>C (p.Thr1455Pro)
n.349A>C
n.852A>C
n.1048A>C
n.643A>C
n.826A>C
c.16A>C (p.Thr6Pro)
c.4372A>C (p.Thr1458Pro)
n.682A>C
c.4222A>C (p.Thr1408Pro)
c.4558A>C (p.Thr1520Pro)
c.418A>C (p.Thr140Pro)
 dbSNP
19g.13259592T=CA2323807482CACNA1Ac.4360A= (p.Thr1454=)
c.4366A= (p.Thr1456=)
n.3114A=
c.4363A= (p.Thr1455=)
n.349A=
n.852A=
n.1048A=
n.643A=
n.826A=
c.16A= (p.Thr6=)
c.4372A= (p.Thr1458=)
n.682A=
c.4222A= (p.Thr1408=)
c.4558A= (p.Thr1520=)
c.418A= (p.Thr140=)
19g.13259593G>ACA505659753CACNA1Ac.4359C>T (p.Phe1453=)
c.4365C>T (p.Phe1455=)
n.3113C>T
c.4362C>T (p.Phe1454=)
n.348C>T
n.851C>T
n.1047C>T
n.642C>T
n.825C>T
c.15C>T (p.Phe5=)
c.4371C>T (p.Phe1457=)
n.681C>T
c.4221C>T (p.Phe1407=)
c.4557C>T (p.Phe1519=)
c.417C>T (p.Phe139=)
19g.13259593G>CCA404339257CACNA1Ac.4359C>G (p.Phe1453Leu)
c.4365C>G (p.Phe1455Leu)
n.3113C>G
c.4362C>G (p.Phe1454Leu)
n.348C>G
n.851C>G
n.1047C>G
n.642C>G
n.825C>G
c.15C>G (p.Phe5Leu)
c.4371C>G (p.Phe1457Leu)
n.681C>G
c.4221C>G (p.Phe1407Leu)
c.4557C>G (p.Phe1519Leu)
c.417C>G (p.Phe139Leu)
19g.13259593G>TCA404339258CACNA1Ac.4359C>A (p.Phe1453Leu)
c.4365C>A (p.Phe1455Leu)
n.3113C>A
c.4362C>A (p.Phe1454Leu)
n.348C>A
n.851C>A
n.1047C>A
n.642C>A
n.825C>A
c.15C>A (p.Phe5Leu)
c.4371C>A (p.Phe1457Leu)
n.681C>A
c.4221C>A (p.Phe1407Leu)
c.4557C>A (p.Phe1519Leu)
c.417C>A (p.Phe139Leu)
19g.13259594A>CCA404339259CACNA1Ac.4358T>G (p.Phe1453Cys)
c.4364T>G (p.Phe1455Cys)
n.3112T>G
c.4361T>G (p.Phe1454Cys)
n.347T>G
n.850T>G
n.1046T>G
n.641T>G
n.824T>G
c.14T>G (p.Phe5Cys)
c.4370T>G (p.Phe1457Cys)
n.680T>G
c.4220T>G (p.Phe1407Cys)
c.4556T>G (p.Phe1519Cys)
c.416T>G (p.Phe139Cys)
19g.13259594A>GCA404339260CACNA1Ac.4358T>C (p.Phe1453Ser)
c.4364T>C (p.Phe1455Ser)
n.3112T>C
c.4361T>C (p.Phe1454Ser)
n.347T>C
n.850T>C
n.1046T>C
n.641T>C
n.824T>C
c.14T>C (p.Phe5Ser)
c.4370T>C (p.Phe1457Ser)
n.680T>C
c.4220T>C (p.Phe1407Ser)
c.4556T>C (p.Phe1519Ser)
c.416T>C (p.Phe139Ser)
19g.13259594A>TCA404339261CACNA1Ac.4358T>A (p.Phe1453Tyr)
c.4364T>A (p.Phe1455Tyr)
n.3112T>A
c.4361T>A (p.Phe1454Tyr)
n.347T>A
n.850T>A
n.1046T>A
n.641T>A
n.824T>A
c.14T>A (p.Phe5Tyr)
c.4370T>A (p.Phe1457Tyr)
n.680T>A
c.4220T>A (p.Phe1407Tyr)
c.4556T>A (p.Phe1519Tyr)
c.416T>A (p.Phe139Tyr)
19g.13259595A>CCA404339262CACNA1Ac.4357T>G (p.Phe1453Val)
c.4363T>G (p.Phe1455Val)
n.3111T>G
c.4360T>G (p.Phe1454Val)
n.346T>G
n.849T>G
n.1045T>G
n.640T>G
n.823T>G
c.13T>G (p.Phe5Val)
c.4369T>G (p.Phe1457Val)
n.679T>G
c.4219T>G (p.Phe1407Val)
c.4555T>G (p.Phe1519Val)
c.415T>G (p.Phe139Val)
19g.13259595A>GCA404339263CACNA1Ac.4357T>C (p.Phe1453Leu)
c.4363T>C (p.Phe1455Leu)
n.3111T>C
c.4360T>C (p.Phe1454Leu)
n.346T>C
n.849T>C
n.1045T>C
n.640T>C
n.823T>C
c.13T>C (p.Phe5Leu)
c.4369T>C (p.Phe1457Leu)
n.679T>C
c.4219T>C (p.Phe1407Leu)
c.4555T>C (p.Phe1519Leu)
c.415T>C (p.Phe139Leu)
19g.13259595A>TCA404339264CACNA1Ac.4357T>A (p.Phe1453Ile)
c.4363T>A (p.Phe1455Ile)
n.3111T>A
c.4360T>A (p.Phe1454Ile)
n.346T>A
n.849T>A
n.1045T>A
n.640T>A
n.823T>A
c.13T>A (p.Phe5Ile)
c.4369T>A (p.Phe1457Ile)
n.679T>A
c.4219T>A (p.Phe1407Ile)
c.4555T>A (p.Phe1519Ile)
c.415T>A (p.Phe139Ile)
19g.13259596G>ACA505659757CACNA1Ac.4356C>T (p.Leu1452=)
c.4362C>T (p.Leu1454=)
n.3110C>T
c.4359C>T (p.Leu1453=)
n.345C>T
n.848C>T
n.1044C>T
n.639C>T
n.822C>T
c.12C>T (p.Leu4=)
c.4368C>T (p.Leu1456=)
n.678C>T
c.4218C>T (p.Leu1406=)
c.4554C>T (p.Leu1518=)
c.414C>T (p.Leu138=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259596G>CCA9240030CACNA1Ac.4356C>G (p.Leu1452=)
c.4362C>G (p.Leu1454=)
n.3110C>G
c.4359C>G (p.Leu1453=)
n.345C>G
n.848C>G
n.1044C>G
n.639C>G
n.822C>G
c.12C>G (p.Leu4=)
c.4368C>G (p.Leu1456=)
n.678C>G
c.4218C>G (p.Leu1406=)
c.4554C>G (p.Leu1518=)
c.414C>G (p.Leu138=)
 dbSNP ExAC gnomAD v2
19g.13259596G=CA2323807483CACNA1Ac.4356C= (p.Leu1452=)
c.4362C= (p.Leu1454=)
n.3110C=
c.4359C= (p.Leu1453=)
n.345C=
n.848C=
n.1044C=
n.639C=
n.822C=
c.12C= (p.Leu4=)
c.4368C= (p.Leu1456=)
n.678C=
c.4218C= (p.Leu1406=)
c.4554C= (p.Leu1518=)
c.414C= (p.Leu138=)
19g.13259596G>TCA505659758CACNA1Ac.4356C>A (p.Leu1452=)
c.4362C>A (p.Leu1454=)
n.3110C>A
c.4359C>A (p.Leu1453=)
n.345C>A
n.848C>A
n.1044C>A
n.639C>A
n.822C>A
c.12C>A (p.Leu4=)
c.4368C>A (p.Leu1456=)
n.678C>A
c.4218C>A (p.Leu1406=)
c.4554C>A (p.Leu1518=)
c.414C>A (p.Leu138=)
19g.13259597A>CCA404339265CACNA1Ac.4355T>G (p.Leu1452Arg)
c.4361T>G (p.Leu1454Arg)
n.3109T>G
c.4358T>G (p.Leu1453Arg)
n.344T>G
n.847T>G
n.1043T>G
n.638T>G
n.821T>G
c.11T>G (p.Leu4Arg)
c.4367T>G (p.Leu1456Arg)
n.677T>G
c.4217T>G (p.Leu1406Arg)
c.4553T>G (p.Leu1518Arg)
c.413T>G (p.Leu138Arg)
19g.13259597A>GCA404339266CACNA1Ac.4355T>C (p.Leu1452Pro)
c.4361T>C (p.Leu1454Pro)
n.3109T>C
c.4358T>C (p.Leu1453Pro)
n.344T>C
n.847T>C
n.1043T>C
n.638T>C
n.821T>C
c.11T>C (p.Leu4Pro)
c.4367T>C (p.Leu1456Pro)
n.677T>C
c.4217T>C (p.Leu1406Pro)
c.4553T>C (p.Leu1518Pro)
c.413T>C (p.Leu138Pro)
19g.13259597A>TCA404339267CACNA1Ac.4355T>A (p.Leu1452His)
c.4361T>A (p.Leu1454His)
n.3109T>A
c.4358T>A (p.Leu1453His)
n.344T>A
n.847T>A
n.1043T>A
n.638T>A
n.821T>A
c.11T>A (p.Leu4His)
c.4367T>A (p.Leu1456His)
n.677T>A
c.4217T>A (p.Leu1406His)
c.4553T>A (p.Leu1518His)
c.413T>A (p.Leu138His)
19g.13259598G>ACA404339270CACNA1Ac.4354C>T (p.Leu1452Phe)
c.4360C>T (p.Leu1454Phe)
n.3108C>T
c.4357C>T (p.Leu1453Phe)
n.343C>T
n.846C>T
n.1042C>T
n.637C>T
n.820C>T
c.10C>T (p.Leu4Phe)
c.4366C>T (p.Leu1456Phe)
n.676C>T
c.4216C>T (p.Leu1406Phe)
c.4552C>T (p.Leu1518Phe)
c.412C>T (p.Leu138Phe)
19g.13259598G>CCA404339268CACNA1Ac.4354C>G (p.Leu1452Val)
c.4360C>G (p.Leu1454Val)
n.3108C>G
c.4357C>G (p.Leu1453Val)
n.343C>G
n.846C>G
n.1042C>G
n.637C>G
n.820C>G
c.10C>G (p.Leu4Val)
c.4366C>G (p.Leu1456Val)
n.676C>G
c.4216C>G (p.Leu1406Val)
c.4552C>G (p.Leu1518Val)
c.412C>G (p.Leu138Val)
19g.13259598G=CA2323807484CACNA1Ac.4354C= (p.Leu1452=)
c.4360C= (p.Leu1454=)
n.3108C=
c.4357C= (p.Leu1453=)
n.343C=
n.846C=
n.1042C=
n.637C=
n.820C=
c.10C= (p.Leu4=)
c.4366C= (p.Leu1456=)
n.676C=
c.4216C= (p.Leu1406=)
c.4552C= (p.Leu1518=)
c.412C= (p.Leu138=)
19g.13259598G>TCA404339269CACNA1Ac.4354C>A (p.Leu1452Ile)
c.4360C>A (p.Leu1454Ile)
n.3108C>A
c.4357C>A (p.Leu1453Ile)
n.343C>A
n.846C>A
n.1042C>A
n.637C>A
n.820C>A
c.10C>A (p.Leu4Ile)
c.4366C>A (p.Leu1456Ile)
n.676C>A
c.4216C>A (p.Leu1406Ile)
c.4552C>A (p.Leu1518Ile)
c.412C>A (p.Leu138Ile)
 dbSNP gnomAD v4
19g.13259599G>ACA505659760CACNA1Ac.4353C>T (p.Thr1451=)
c.4359C>T (p.Thr1453=)
n.3107C>T
c.4356C>T (p.Thr1452=)
n.342C>T
n.845C>T
n.1041C>T
n.636C>T
n.819C>T
c.9C>T (p.Thr3=)
c.4365C>T (p.Thr1455=)
n.675C>T
c.4215C>T (p.Thr1405=)
c.4551C>T (p.Thr1517=)
c.411C>T (p.Thr137=)
 gnomAD v4
19g.13259599G>CCA505659761CACNA1Ac.4353C>G (p.Thr1451=)
c.4359C>G (p.Thr1453=)
n.3107C>G
c.4356C>G (p.Thr1452=)
n.342C>G
n.845C>G
n.1041C>G
n.636C>G
n.819C>G
c.9C>G (p.Thr3=)
c.4365C>G (p.Thr1455=)
n.675C>G
c.4215C>G (p.Thr1405=)
c.4551C>G (p.Thr1517=)
c.411C>G (p.Thr137=)
 gnomAD v4
19g.13259599G>TCA505659762CACNA1Ac.4353C>A (p.Thr1451=)
c.4359C>A (p.Thr1453=)
n.3107C>A
c.4356C>A (p.Thr1452=)
n.342C>A
n.845C>A
n.1041C>A
n.636C>A
n.819C>A
c.9C>A (p.Thr3=)
c.4365C>A (p.Thr1455=)
n.675C>A
c.4215C>A (p.Thr1405=)
c.4551C>A (p.Thr1517=)
c.411C>A (p.Thr137=)
19g.13259600G>ACA404339271CACNA1Ac.4352C>T (p.Thr1451Ile)
c.4358C>T (p.Thr1453Ile)
n.3106C>T
c.4355C>T (p.Thr1452Ile)
n.341C>T
n.844C>T
n.1040C>T
n.635C>T
n.818C>T
c.8C>T (p.Thr3Ile)
c.4364C>T (p.Thr1455Ile)
n.674C>T
c.4214C>T (p.Thr1405Ile)
c.4550C>T (p.Thr1517Ile)
c.410C>T (p.Thr137Ile)
19g.13259600G>CCA404339272CACNA1Ac.4352C>G (p.Thr1451Ser)
c.4358C>G (p.Thr1453Ser)
n.3106C>G
c.4355C>G (p.Thr1452Ser)
n.341C>G
n.844C>G
n.1040C>G
n.635C>G
n.818C>G
c.8C>G (p.Thr3Ser)
c.4364C>G (p.Thr1455Ser)
n.674C>G
c.4214C>G (p.Thr1405Ser)
c.4550C>G (p.Thr1517Ser)
c.410C>G (p.Thr137Ser)
 ClinVar gnomAD v4
19g.13259600G>TCA404339273CACNA1Ac.4352C>A (p.Thr1451Asn)
c.4358C>A (p.Thr1453Asn)
n.3106C>A
c.4355C>A (p.Thr1452Asn)
n.341C>A
n.844C>A
n.1040C>A
n.635C>A
n.818C>A
c.8C>A (p.Thr3Asn)
c.4364C>A (p.Thr1455Asn)
n.674C>A
c.4214C>A (p.Thr1405Asn)
c.4550C>A (p.Thr1517Asn)
c.410C>A (p.Thr137Asn)
19g.13259601T>ACA404339274CACNA1Ac.4351A>T (p.Thr1451Ser)
c.4357A>T (p.Thr1453Ser)
n.3105A>T
c.4354A>T (p.Thr1452Ser)
n.340A>T
n.843A>T
n.1039A>T
n.634A>T
n.817A>T
c.7A>T (p.Thr3Ser)
c.4363A>T (p.Thr1455Ser)
n.673A>T
c.4213A>T (p.Thr1405Ser)
c.4549A>T (p.Thr1517Ser)
c.409A>T (p.Thr137Ser)
19g.13259601T>CCA404339275CACNA1Ac.4351A>G (p.Thr1451Ala)
c.4357A>G (p.Thr1453Ala)
n.3105A>G
c.4354A>G (p.Thr1452Ala)
n.340A>G
n.843A>G
n.1039A>G
n.634A>G
n.817A>G
c.7A>G (p.Thr3Ala)
c.4363A>G (p.Thr1455Ala)
n.673A>G
c.4213A>G (p.Thr1405Ala)
c.4549A>G (p.Thr1517Ala)
c.409A>G (p.Thr137Ala)
19g.13259601T>GCA404339276CACNA1Ac.4351A>C (p.Thr1451Pro)
c.4357A>C (p.Thr1453Pro)
n.3105A>C
c.4354A>C (p.Thr1452Pro)
n.340A>C
n.843A>C
n.1039A>C
n.634A>C
n.817A>C
c.7A>C (p.Thr3Pro)
c.4363A>C (p.Thr1455Pro)
n.673A>C
c.4213A>C (p.Thr1405Pro)
c.4549A>C (p.Thr1517Pro)
c.409A>C (p.Thr137Pro)
 dbSNP gnomAD v4
19g.13259601T=CA2323807485CACNA1Ac.4351A= (p.Thr1451=)
c.4357A= (p.Thr1453=)
n.3105A=
c.4354A= (p.Thr1452=)
n.340A=
n.843A=
n.1039A=
n.634A=
n.817A=
c.7A= (p.Thr3=)
c.4363A= (p.Thr1455=)
n.673A=
c.4213A= (p.Thr1405=)
c.4549A= (p.Thr1517=)
c.409A= (p.Thr137=)
19g.13259602C>ACA505659767CACNA1Ac.4350G>T (p.Leu1450=)
c.4356G>T (p.Leu1452=)
n.3104G>T
c.4353G>T (p.Leu1451=)
n.339G>T
n.842G>T
n.1038G>T
n.633G>T
n.816G>T
c.6G>T (p.Leu2=)
c.4362G>T (p.Leu1454=)
n.672G>T
c.4212G>T (p.Leu1404=)
c.4548G>T (p.Leu1516=)
c.408G>T (p.Leu136=)
19g.13259602C>GCA505659768CACNA1Ac.4350G>C (p.Leu1450=)
c.4356G>C (p.Leu1452=)
n.3104G>C
c.4353G>C (p.Leu1451=)
n.339G>C
n.842G>C
n.1038G>C
n.633G>C
n.816G>C
c.6G>C (p.Leu2=)
c.4362G>C (p.Leu1454=)
n.672G>C
c.4212G>C (p.Leu1404=)
c.4548G>C (p.Leu1516=)
c.408G>C (p.Leu136=)
19g.13259602C>TCA505659769CACNA1Ac.4350G>A (p.Leu1450=)
c.4356G>A (p.Leu1452=)
n.3104G>A
c.4353G>A (p.Leu1451=)
n.339G>A
n.842G>A
n.1038G>A
n.633G>A
n.816G>A
c.6G>A (p.Leu2=)
c.4362G>A (p.Leu1454=)
n.672G>A
c.4212G>A (p.Leu1404=)
c.4548G>A (p.Leu1516=)
c.408G>A (p.Leu136=)
19g.13259603A>CCA404339277CACNA1Ac.4349T>G (p.Leu1450Arg)
c.4355T>G (p.Leu1452Arg)
n.3103T>G
c.4352T>G (p.Leu1451Arg)
n.338T>G
n.841T>G
n.1037T>G
n.632T>G
n.815T>G
c.5T>G (p.Leu2Arg)
c.4361T>G (p.Leu1454Arg)
n.671T>G
c.4211T>G (p.Leu1404Arg)
c.4547T>G (p.Leu1516Arg)
c.407T>G (p.Leu136Arg)
19g.13259603A>GCA404339278CACNA1Ac.4349T>C (p.Leu1450Pro)
c.4355T>C (p.Leu1452Pro)
n.3103T>C
c.4352T>C (p.Leu1451Pro)
n.338T>C
n.841T>C
n.1037T>C
n.632T>C
n.815T>C
c.5T>C (p.Leu2Pro)
c.4361T>C (p.Leu1454Pro)
n.671T>C
c.4211T>C (p.Leu1404Pro)
c.4547T>C (p.Leu1516Pro)
c.407T>C (p.Leu136Pro)
19g.13259603A>TCA404339279CACNA1Ac.4349T>A (p.Leu1450Gln)
c.4355T>A (p.Leu1452Gln)
n.3103T>A
c.4352T>A (p.Leu1451Gln)
n.338T>A
n.841T>A
n.1037T>A
n.632T>A
n.815T>A
c.5T>A (p.Leu2Gln)
c.4361T>A (p.Leu1454Gln)
n.671T>A
c.4211T>A (p.Leu1404Gln)
c.4547T>A (p.Leu1516Gln)
c.407T>A (p.Leu136Gln)
19g.13259604G>ACA505659770CACNA1Ac.4348C>T (p.Leu1450=)
c.4354C>T (p.Leu1452=)
n.3102C>T
c.4351C>T (p.Leu1451=)
n.337C>T
n.840C>T
n.1036C>T
n.631C>T
n.814C>T
c.4C>T (p.Leu2=)
c.4360C>T (p.Leu1454=)
n.670C>T
c.4210C>T (p.Leu1404=)
c.4546C>T (p.Leu1516=)
c.406C>T (p.Leu136=)
 COSMIC COSMIC COSMIC COSMIC
19g.13259604G>CCA404339280CACNA1Ac.4348C>G (p.Leu1450Val)
c.4354C>G (p.Leu1452Val)
n.3102C>G
c.4351C>G (p.Leu1451Val)
n.337C>G
n.840C>G
n.1036C>G
n.631C>G
n.814C>G
c.4C>G (p.Leu2Val)
c.4360C>G (p.Leu1454Val)
n.670C>G
c.4210C>G (p.Leu1404Val)
c.4546C>G (p.Leu1516Val)
c.406C>G (p.Leu136Val)
19g.13259604G>TCA404339281CACNA1Ac.4348C>A (p.Leu1450Met)
c.4354C>A (p.Leu1452Met)
n.3102C>A
c.4351C>A (p.Leu1451Met)
n.337C>A
n.840C>A
n.1036C>A
n.631C>A
n.814C>A
c.4C>A (p.Leu2Met)
c.4360C>A (p.Leu1454Met)
n.670C>A
c.4210C>A (p.Leu1404Met)
c.4546C>A (p.Leu1516Met)
c.406C>A (p.Leu136Met)
19g.13259605C>ACA505659771CACNA1Ac.4347G>T (p.Leu1449=)
c.4353G>T (p.Leu1451=)
n.3101G>T
c.4350G>T (p.Leu1450=)
n.336G>T
n.839G>T
n.1035G>T
n.630G>T
n.813G>T
c.3G>T (p.Leu1=)
c.4359G>T (p.Leu1453=)
n.669G>T
c.4209G>T (p.Leu1403=)
c.4545G>T (p.Leu1515=)
c.405G>T (p.Leu135=)
19g.13259605C=CA2323807486CACNA1Ac.4347G= (p.Leu1449=)
c.4353G= (p.Leu1451=)
n.3101G=
c.4350G= (p.Leu1450=)
n.336G=
n.839G=
n.1035G=
n.630G=
n.813G=
c.3G= (p.Leu1=)
c.4359G= (p.Leu1453=)
n.669G=
c.4209G= (p.Leu1403=)
c.4545G= (p.Leu1515=)
c.405G= (p.Leu135=)
19g.13259605C>GCA505659772CACNA1Ac.4347G>C (p.Leu1449=)
c.4353G>C (p.Leu1451=)
n.3101G>C
c.4350G>C (p.Leu1450=)
n.336G>C
n.839G>C
n.1035G>C
n.630G>C
n.813G>C
c.3G>C (p.Leu1=)
c.4359G>C (p.Leu1453=)
n.669G>C
c.4209G>C (p.Leu1403=)
c.4545G>C (p.Leu1515=)
c.405G>C (p.Leu135=)
 ClinVar dbSNP
19g.13259605C>TCA505659773CACNA1Ac.4347G>A (p.Leu1449=)
c.4353G>A (p.Leu1451=)
n.3101G>A
c.4350G>A (p.Leu1450=)
n.336G>A
n.839G>A
n.1035G>A
n.630G>A
n.813G>A
c.3G>A (p.Leu1=)
c.4359G>A (p.Leu1453=)
n.669G>A
c.4209G>A (p.Leu1403=)
c.4545G>A (p.Leu1515=)
c.405G>A (p.Leu135=)
 dbSNP gnomAD v2 gnomAD v4
19g.13259606A>CCA404339284CACNA1Ac.4346T>G (p.Leu1449Arg)
c.4352T>G (p.Leu1451Arg)
n.3100T>G
c.4349T>G (p.Leu1450Arg)
n.335T>G
n.838T>G
n.1034T>G
n.629T>G
n.812T>G
c.2T>G (p.Leu1Arg)
c.4358T>G (p.Leu1453Arg)
n.668T>G
c.4208T>G (p.Leu1403Arg)
c.4544T>G (p.Leu1515Arg)
c.404T>G (p.Leu135Arg)
19g.13259606A>GCA404339283CACNA1Ac.4346T>C (p.Leu1449Pro)
c.4352T>C (p.Leu1451Pro)
n.3100T>C
c.4349T>C (p.Leu1450Pro)
n.335T>C
n.838T>C
n.1034T>C
n.629T>C
n.812T>C
c.2T>C (p.Leu1Pro)
c.4358T>C (p.Leu1453Pro)
n.668T>C
c.4208T>C (p.Leu1403Pro)
c.4544T>C (p.Leu1515Pro)
c.404T>C (p.Leu135Pro)
19g.13259606A>TCA404339282CACNA1Ac.4346T>A (p.Leu1449Gln)
c.4352T>A (p.Leu1451Gln)
n.3100T>A
c.4349T>A (p.Leu1450Gln)
n.335T>A
n.838T>A
n.1034T>A
n.629T>A
n.812T>A
c.2T>A (p.Leu1Gln)
c.4358T>A (p.Leu1453Gln)
n.668T>A
c.4208T>A (p.Leu1403Gln)
c.4544T>A (p.Leu1515Gln)
c.404T>A (p.Leu135Gln)
19g.13259607G>ACA505659774CACNA1Ac.4345C>T (p.Leu1449=)
c.4351C>T (p.Leu1451=)
n.3099C>T
c.4348C>T (p.Leu1450=)
n.334C>T
n.837C>T
n.1033C>T
n.628C>T
n.811C>T
c.1C>T (p.Leu1=)
c.4357C>T (p.Leu1453=)
n.667C>T
c.4207C>T (p.Leu1403=)
c.4543C>T (p.Leu1515=)
c.403C>T (p.Leu135=)
19g.13259607G>CCA404339285CACNA1Ac.4345C>G (p.Leu1449Val)
c.4351C>G (p.Leu1451Val)
n.3099C>G
c.4348C>G (p.Leu1450Val)
n.334C>G
n.837C>G
n.1033C>G
n.628C>G
n.811C>G
c.1C>G (p.Leu1Val)
c.4357C>G (p.Leu1453Val)
n.667C>G
c.4207C>G (p.Leu1403Val)
c.4543C>G (p.Leu1515Val)
c.403C>G (p.Leu135Val)
19g.13259607G=CA2323807487CACNA1Ac.4345C= (p.Leu1449=)
c.4351C= (p.Leu1451=)
n.3099C=
c.4348C= (p.Leu1450=)
n.334C=
n.837C=
n.1033C=
n.628C=
n.811C=
c.1C= (p.Leu1=)
c.4357C= (p.Leu1453=)
n.667C=
c.4207C= (p.Leu1403=)
c.4543C= (p.Leu1515=)
c.403C= (p.Leu135=)
19g.13259607G>TCA404339286CACNA1Ac.4345C>A (p.Leu1449Met)
c.4351C>A (p.Leu1451Met)
n.3099C>A
c.4348C>A (p.Leu1450Met)
n.334C>A
n.837C>A
n.1033C>A
n.628C>A
n.811C>A
c.1C>A (p.Leu1Met)
c.4357C>A (p.Leu1453Met)
n.667C>A
c.4207C>A (p.Leu1403Met)
c.4543C>A (p.Leu1515Met)
c.403C>A (p.Leu135Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13259608A>CCA505659776CACNA1Ac.4344T>G (p.Ala1448=)
c.4350T>G (p.Ala1450=)
n.3098T>G
c.4347T>G (p.Ala1449=)
n.333T>G
n.836T>G
n.1032T>G
n.627T>G
n.810T>G
c.4356T>G (p.Ala1452=)
n.666T>G
c.4206T>G (p.Ala1402=)
c.4542T>G (p.Ala1514=)
c.402T>G (p.Ala134=)
19g.13259608A>GCA505659777CACNA1Ac.4344T>C (p.Ala1448=)
c.4350T>C (p.Ala1450=)
n.3098T>C
c.4347T>C (p.Ala1449=)
n.333T>C
n.836T>C
n.1032T>C
n.627T>C
n.810T>C
c.4356T>C (p.Ala1452=)
n.666T>C
c.4206T>C (p.Ala1402=)
c.4542T>C (p.Ala1514=)
c.402T>C (p.Ala134=)
19g.13259608A>TCA505659778CACNA1Ac.4344T>A (p.Ala1448=)
c.4350T>A (p.Ala1450=)
n.3098T>A
c.4347T>A (p.Ala1449=)
n.333T>A
n.836T>A
n.1032T>A
n.627T>A
n.810T>A
c.4356T>A (p.Ala1452=)
n.666T>A
c.4206T>A (p.Ala1402=)
c.4542T>A (p.Ala1514=)
c.402T>A (p.Ala134=)
19g.13259609G>ACA305539393CACNA1Ac.4343C>T (p.Ala1448Val)
c.4349C>T (p.Ala1450Val)
n.3097C>T
c.4346C>T (p.Ala1449Val)
n.332C>T
n.835C>T
n.1031C>T
n.626C>T
n.809C>T
c.4355C>T (p.Ala1452Val)
n.665C>T
c.4205C>T (p.Ala1402Val)
c.4541C>T (p.Ala1514Val)
c.401C>T (p.Ala134Val)
 dbSNP
19g.13259609G>CCA404339287CACNA1Ac.4343C>G (p.Ala1448Gly)
c.4349C>G (p.Ala1450Gly)
n.3097C>G
c.4346C>G (p.Ala1449Gly)
n.332C>G
n.835C>G
n.1031C>G
n.626C>G
n.809C>G
c.4355C>G (p.Ala1452Gly)
n.665C>G
c.4205C>G (p.Ala1402Gly)
c.4541C>G (p.Ala1514Gly)
c.401C>G (p.Ala134Gly)
19g.13259609G=CA2323807488CACNA1Ac.4343C= (p.Ala1448=)
c.4349C= (p.Ala1450=)
n.3097C=
c.4346C= (p.Ala1449=)
n.332C=
n.835C=
n.1031C=
n.626C=
n.809C=
c.4355C= (p.Ala1452=)
n.665C=
c.4205C= (p.Ala1402=)
c.4541C= (p.Ala1514=)
c.401C= (p.Ala134=)
19g.13259609G>TCA404339288CACNA1Ac.4343C>A (p.Ala1448Asp)
c.4349C>A (p.Ala1450Asp)
n.3097C>A
c.4346C>A (p.Ala1449Asp)
n.332C>A
n.835C>A
n.1031C>A
n.626C>A
n.809C>A
c.4355C>A (p.Ala1452Asp)
n.665C>A
c.4205C>A (p.Ala1402Asp)
c.4541C>A (p.Ala1514Asp)
c.401C>A (p.Ala134Asp)
 gnomAD v4
19g.13259610C>ACA404339289CACNA1Ac.4342G>T (p.Ala1448Ser)
c.4348G>T (p.Ala1450Ser)
n.3096G>T
c.4345G>T (p.Ala1449Ser)
n.331G>T
n.834G>T
n.1030G>T
n.625G>T
n.808G>T
c.4354G>T (p.Ala1452Ser)
n.664G>T
c.4204G>T (p.Ala1402Ser)
c.4540G>T (p.Ala1514Ser)
c.400G>T (p.Ala134Ser)
19g.13259610C>GCA404339290CACNA1Ac.4342G>C (p.Ala1448Pro)
c.4348G>C (p.Ala1450Pro)
n.3096G>C
c.4345G>C (p.Ala1449Pro)
n.331G>C
n.834G>C
n.1030G>C
n.625G>C
n.808G>C
c.4354G>C (p.Ala1452Pro)
n.664G>C
c.4204G>C (p.Ala1402Pro)
c.4540G>C (p.Ala1514Pro)
c.400G>C (p.Ala134Pro)
19g.13259610C>TCA404339291CACNA1Ac.4342G>A (p.Ala1448Thr)
c.4348G>A (p.Ala1450Thr)
n.3096G>A
c.4345G>A (p.Ala1449Thr)
n.331G>A
n.834G>A
n.1030G>A
n.625G>A
n.808G>A
c.4354G>A (p.Ala1452Thr)
n.664G>A
c.4204G>A (p.Ala1402Thr)
c.4540G>A (p.Ala1514Thr)
c.400G>A (p.Ala134Thr)
 gnomAD v4
19g.13259611C>ACA404339292CACNA1Ac.4341G>T (p.Trp1447Cys)
c.4347G>T (p.Trp1449Cys)
n.3095G>T
c.4344G>T (p.Trp1448Cys)
n.330G>T
n.833G>T
n.1029G>T
n.624G>T
n.807G>T
c.4353G>T (p.Trp1451Cys)
n.663G>T
c.4203G>T (p.Trp1401Cys)
c.4539G>T (p.Trp1513Cys)
c.399G>T (p.Trp133Cys)
 dbSNP gnomAD v4
19g.13259611C>GCA404339293CACNA1Ac.4341G>C (p.Trp1447Cys)
c.4347G>C (p.Trp1449Cys)
n.3095G>C
c.4344G>C (p.Trp1448Cys)
n.330G>C
n.833G>C
n.1029G>C
n.624G>C
n.807G>C
c.4353G>C (p.Trp1451Cys)
n.663G>C
c.4203G>C (p.Trp1401Cys)
c.4539G>C (p.Trp1513Cys)
c.399G>C (p.Trp133Cys)
19g.13259611C>TCA404339294CACNA1Ac.4341G>A (p.Trp1447Ter)
c.4347G>A (p.Trp1449Ter)
n.3095G>A
c.4344G>A (p.Trp1448Ter)
n.330G>A
n.833G>A
n.1029G>A
n.624G>A
n.807G>A
c.4353G>A (p.Trp1451Ter)
n.663G>A
c.4203G>A (p.Trp1401Ter)
c.4539G>A (p.Trp1513Ter)
c.399G>A (p.Trp133Ter)
19g.13259612C>ACA404339295CACNA1Ac.4340G>T (p.Trp1447Leu)
c.4346G>T (p.Trp1449Leu)
n.3094G>T
c.4343G>T (p.Trp1448Leu)
n.329G>T
n.832G>T
n.1028G>T
n.623G>T
n.806G>T
c.4352G>T (p.Trp1451Leu)
n.662G>T
c.4202G>T (p.Trp1401Leu)
c.4538G>T (p.Trp1513Leu)
c.398G>T (p.Trp133Leu)
19g.13259612C>GCA404339296CACNA1Ac.4340G>C (p.Trp1447Ser)
c.4346G>C (p.Trp1449Ser)
n.3094G>C
c.4343G>C (p.Trp1448Ser)
n.329G>C
n.832G>C
n.1028G>C
n.623G>C
n.806G>C
c.4352G>C (p.Trp1451Ser)
n.662G>C
c.4202G>C (p.Trp1401Ser)
c.4538G>C (p.Trp1513Ser)
c.398G>C (p.Trp133Ser)
 ClinVar
19g.13259612C>TCA404339297CACNA1Ac.4340G>A (p.Trp1447Ter)
c.4346G>A (p.Trp1449Ter)
n.3094G>A
c.4343G>A (p.Trp1448Ter)
n.329G>A
n.832G>A
n.1028G>A
n.623G>A
n.806G>A
c.4352G>A (p.Trp1451Ter)
n.662G>A
c.4202G>A (p.Trp1401Ter)
c.4538G>A (p.Trp1513Ter)
c.398G>A (p.Trp133Ter)
19g.13259613A>CCA404339300CACNA1Ac.4339T>G (p.Trp1447Gly)
c.4345T>G (p.Trp1449Gly)
n.3093T>G
c.4342T>G (p.Trp1448Gly)
n.328T>G
n.831T>G
n.1027T>G
n.622T>G
n.805T>G
c.4351T>G (p.Trp1451Gly)
n.661T>G
c.4201T>G (p.Trp1401Gly)
c.4537T>G (p.Trp1513Gly)
c.397T>G (p.Trp133Gly)
19g.13259613A>GCA404339298CACNA1Ac.4339T>C (p.Trp1447Arg)
c.4345T>C (p.Trp1449Arg)
n.3093T>C
c.4342T>C (p.Trp1448Arg)
n.328T>C
n.831T>C
n.1027T>C
n.622T>C
n.805T>C
c.4351T>C (p.Trp1451Arg)
n.661T>C
c.4201T>C (p.Trp1401Arg)
c.4537T>C (p.Trp1513Arg)
c.397T>C (p.Trp133Arg)
 gnomAD v4
19g.13259613A>TCA404339299CACNA1Ac.4339T>A (p.Trp1447Arg)
c.4345T>A (p.Trp1449Arg)
n.3093T>A
c.4342T>A (p.Trp1448Arg)
n.328T>A
n.831T>A
n.1027T>A
n.622T>A
n.805T>A
c.4351T>A (p.Trp1451Arg)
n.661T>A
c.4201T>A (p.Trp1401Arg)
c.4537T>A (p.Trp1513Arg)
c.397T>A (p.Trp133Arg)
19g.13259614C>ACA505659783CACNA1Ac.4338G>T (p.Leu1446=)
c.4344G>T (p.Leu1448=)
n.3092G>T
c.4341G>T (p.Leu1447=)
n.327G>T
n.830G>T
n.1026G>T
n.621G>T
n.804G>T
c.4350G>T (p.Leu1450=)
n.660G>T
c.4200G>T (p.Leu1400=)
c.4536G>T (p.Leu1512=)
c.396G>T (p.Leu132=)
 dbSNP
19g.13259614C=CA2323807489CACNA1Ac.4338G= (p.Leu1446=)
c.4344G= (p.Leu1448=)
n.3092G=
c.4341G= (p.Leu1447=)
n.327G=
n.830G=
n.1026G=
n.621G=
n.804G=
c.4350G= (p.Leu1450=)
n.660G=
c.4200G= (p.Leu1400=)
c.4536G= (p.Leu1512=)
c.396G= (p.Leu132=)
19g.13259614C>GCA505659784CACNA1Ac.4338G>C (p.Leu1446=)
c.4344G>C (p.Leu1448=)
n.3092G>C
c.4341G>C (p.Leu1447=)
n.327G>C
n.830G>C
n.1026G>C
n.621G>C
n.804G>C
c.4350G>C (p.Leu1450=)
n.660G>C
c.4200G>C (p.Leu1400=)
c.4536G>C (p.Leu1512=)
c.396G>C (p.Leu132=)
 gnomAD v4
19g.13259614C>TCA9240031CACNA1Ac.4338G>A (p.Leu1446=)
c.4344G>A (p.Leu1448=)
n.3092G>A
c.4341G>A (p.Leu1447=)
n.327G>A
n.830G>A
n.1026G>A
n.621G>A
n.804G>A
c.4350G>A (p.Leu1450=)
n.660G>A
c.4200G>A (p.Leu1400=)
c.4536G>A (p.Leu1512=)
c.396G>A (p.Leu132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259615A>CCA404339301CACNA1Ac.4337T>G (p.Leu1446Arg)
c.4343T>G (p.Leu1448Arg)
n.3091T>G
c.4340T>G (p.Leu1447Arg)
n.326T>G
n.829T>G
n.1025T>G
n.620T>G
n.803T>G
c.4349T>G (p.Leu1450Arg)
n.659T>G
c.4199T>G (p.Leu1400Arg)
c.4535T>G (p.Leu1512Arg)
c.395T>G (p.Leu132Arg)
19g.13259615A>GCA404339302CACNA1Ac.4337T>C (p.Leu1446Pro)
c.4343T>C (p.Leu1448Pro)
n.3091T>C
c.4340T>C (p.Leu1447Pro)
n.326T>C
n.829T>C
n.1025T>C
n.620T>C
n.803T>C
c.4349T>C (p.Leu1450Pro)
n.659T>C
c.4199T>C (p.Leu1400Pro)
c.4535T>C (p.Leu1512Pro)
c.395T>C (p.Leu132Pro)
 ClinVar
19g.13259615A>TCA404339303CACNA1Ac.4337T>A (p.Leu1446Gln)
c.4343T>A (p.Leu1448Gln)
n.3091T>A
c.4340T>A (p.Leu1447Gln)
n.326T>A
n.829T>A
n.1025T>A
n.620T>A
n.803T>A
c.4349T>A (p.Leu1450Gln)
n.659T>A
c.4199T>A (p.Leu1400Gln)
c.4535T>A (p.Leu1512Gln)
c.395T>A (p.Leu132Gln)
19g.13259616G>ACA505659785CACNA1Ac.4336C>T (p.Leu1446=)
c.4342C>T (p.Leu1448=)
n.3090C>T
c.4339C>T (p.Leu1447=)
n.325C>T
n.828C>T
n.1024C>T
n.619C>T
n.802C>T
c.4348C>T (p.Leu1450=)
n.658C>T
c.4198C>T (p.Leu1400=)
c.4534C>T (p.Leu1512=)
c.394C>T (p.Leu132=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259616G>CCA404339304CACNA1Ac.4336C>G (p.Leu1446Val)
c.4342C>G (p.Leu1448Val)
n.3090C>G
c.4339C>G (p.Leu1447Val)
n.325C>G
n.828C>G
n.1024C>G
n.619C>G
n.802C>G
c.4348C>G (p.Leu1450Val)
n.658C>G
c.4198C>G (p.Leu1400Val)
c.4534C>G (p.Leu1512Val)
c.394C>G (p.Leu132Val)
19g.13259616G=CA2323807490CACNA1Ac.4336C= (p.Leu1446=)
c.4342C= (p.Leu1448=)
n.3090C=
c.4339C= (p.Leu1447=)
n.325C=
n.828C=
n.1024C=
n.619C=
n.802C=
c.4348C= (p.Leu1450=)
n.658C=
c.4198C= (p.Leu1400=)
c.4534C= (p.Leu1512=)
c.394C= (p.Leu132=)
19g.13259616G>TCA404339305CACNA1Ac.4336C>A (p.Leu1446Met)
c.4342C>A (p.Leu1448Met)
n.3090C>A
c.4339C>A (p.Leu1447Met)
n.325C>A
n.828C>A
n.1024C>A
n.619C>A
n.802C>A
c.4348C>A (p.Leu1450Met)
n.658C>A
c.4198C>A (p.Leu1400Met)
c.4534C>A (p.Leu1512Met)
c.394C>A (p.Leu132Met)
19g.13259617C>ACA505659789CACNA1Ac.4335G>T (p.Val1445=)
c.4341G>T (p.Val1447=)
n.3089G>T
c.4338G>T (p.Val1446=)
n.324G>T
n.827G>T
n.1023G>T
n.618G>T
n.801G>T
c.4347G>T (p.Val1449=)
n.657G>T
c.4197G>T (p.Val1399=)
c.4533G>T (p.Val1511=)
c.393G>T (p.Val131=)
 gnomAD v4
19g.13259617C>GCA505659788CACNA1Ac.4335G>C (p.Val1445=)
c.4341G>C (p.Val1447=)
n.3089G>C
c.4338G>C (p.Val1446=)
n.324G>C
n.827G>C
n.1023G>C
n.618G>C
n.801G>C
c.4347G>C (p.Val1449=)
n.657G>C
c.4197G>C (p.Val1399=)
c.4533G>C (p.Val1511=)
c.393G>C (p.Val131=)
19g.13259617C>TCA505659787CACNA1Ac.4335G>A (p.Val1445=)
c.4341G>A (p.Val1447=)
n.3089G>A
c.4338G>A (p.Val1446=)
n.324G>A
n.827G>A
n.1023G>A
n.618G>A
n.801G>A
c.4347G>A (p.Val1449=)
n.657G>A
c.4197G>A (p.Val1399=)
c.4533G>A (p.Val1511=)
c.393G>A (p.Val131=)
 gnomAD v4 COSMIC
19g.13259618A>CCA404339306CACNA1Ac.4334T>G (p.Val1445Gly)
c.4340T>G (p.Val1447Gly)
n.3088T>G
c.4337T>G (p.Val1446Gly)
n.323T>G
n.826T>G
n.1022T>G
n.617T>G
n.800T>G
c.4346T>G (p.Val1449Gly)
n.656T>G
c.4196T>G (p.Val1399Gly)
c.4532T>G (p.Val1511Gly)
c.392T>G (p.Val131Gly)
19g.13259618A>GCA404339307CACNA1Ac.4334T>C (p.Val1445Ala)
c.4340T>C (p.Val1447Ala)
n.3088T>C
c.4337T>C (p.Val1446Ala)
n.323T>C
n.826T>C
n.1022T>C
n.617T>C
n.800T>C
c.4346T>C (p.Val1449Ala)
n.656T>C
c.4196T>C (p.Val1399Ala)
c.4532T>C (p.Val1511Ala)
c.392T>C (p.Val131Ala)
19g.13259618A>TCA404339308CACNA1Ac.4334T>A (p.Val1445Glu)
c.4340T>A (p.Val1447Glu)
n.3088T>A
c.4337T>A (p.Val1446Glu)
n.323T>A
n.826T>A
n.1022T>A
n.617T>A
n.800T>A
c.4346T>A (p.Val1449Glu)
n.656T>A
c.4196T>A (p.Val1399Glu)
c.4532T>A (p.Val1511Glu)
c.392T>A (p.Val131Glu)
19g.13259619C>ACA404339309CACNA1Ac.4333G>T (p.Val1445Leu)
c.4339G>T (p.Val1447Leu)
n.3087G>T
c.4336G>T (p.Val1446Leu)
n.322G>T
n.825G>T
n.1021G>T
n.616G>T
n.799G>T
c.4345G>T (p.Val1449Leu)
n.655G>T
c.4195G>T (p.Val1399Leu)
c.4531G>T (p.Val1511Leu)
c.391G>T (p.Val131Leu)
19g.13259619C=CA2323807491CACNA1Ac.4333G= (p.Val1445=)
c.4339G= (p.Val1447=)
n.3087G=
c.4336G= (p.Val1446=)
n.322G=
n.825G=
n.1021G=
n.616G=
n.799G=
c.4345G= (p.Val1449=)
n.655G=
c.4195G= (p.Val1399=)
c.4531G= (p.Val1511=)
c.391G= (p.Val131=)
19g.13259619C>GCA404339310CACNA1Ac.4333G>C (p.Val1445Leu)
c.4339G>C (p.Val1447Leu)
n.3087G>C
c.4336G>C (p.Val1446Leu)
n.322G>C
n.825G>C
n.1021G>C
n.616G>C
n.799G>C
c.4345G>C (p.Val1449Leu)
n.655G>C
c.4195G>C (p.Val1399Leu)
c.4531G>C (p.Val1511Leu)
c.391G>C (p.Val131Leu)
19g.13259619C>TCA404339311CACNA1Ac.4333G>A (p.Val1445Met)
c.4339G>A (p.Val1447Met)
n.3087G>A
c.4336G>A (p.Val1446Met)
n.322G>A
n.825G>A
n.1021G>A
n.616G>A
n.799G>A
c.4345G>A (p.Val1449Met)
n.655G>A
c.4195G>A (p.Val1399Met)
c.4531G>A (p.Val1511Met)
c.391G>A (p.Val131Met)
 dbSNP gnomAD v2 gnomAD v4
19g.13259620A=CA2323807492CACNA1Ac.4332T= (p.Asn1444=)
c.4338T= (p.Asn1446=)
n.3086T=
c.4335T= (p.Asn1445=)
n.321T=
n.824T=
n.1020T=
n.615T=
n.798T=
c.4344T= (p.Asn1448=)
n.654T=
c.4194T= (p.Asn1398=)
c.4530T= (p.Asn1510=)
c.390T= (p.Asn130=)
19g.13259620A>CCA404339313CACNA1Ac.4332T>G (p.Asn1444Lys)
c.4338T>G (p.Asn1446Lys)
n.3086T>G
c.4335T>G (p.Asn1445Lys)
n.321T>G
n.824T>G
n.1020T>G
n.615T>G
n.798T>G
c.4344T>G (p.Asn1448Lys)
n.654T>G
c.4194T>G (p.Asn1398Lys)
c.4530T>G (p.Asn1510Lys)
c.390T>G (p.Asn130Lys)
19g.13259620A>GCA505659792CACNA1Ac.4332T>C (p.Asn1444=)
c.4338T>C (p.Asn1446=)
n.3086T>C
c.4335T>C (p.Asn1445=)
n.321T>C
n.824T>C
n.1020T>C
n.615T>C
n.798T>C
c.4344T>C (p.Asn1448=)
n.654T>C
c.4194T>C (p.Asn1398=)
c.4530T>C (p.Asn1510=)
c.390T>C (p.Asn130=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259620A>TCA404339312CACNA1Ac.4332T>A (p.Asn1444Lys)
c.4338T>A (p.Asn1446Lys)
n.3086T>A
c.4335T>A (p.Asn1445Lys)
n.321T>A
n.824T>A
n.1020T>A
n.615T>A
n.798T>A
c.4344T>A (p.Asn1448Lys)
n.654T>A
c.4194T>A (p.Asn1398Lys)
c.4530T>A (p.Asn1510Lys)
c.390T>A (p.Asn130Lys)
19g.13259621T>ACA404339314CACNA1Ac.4331A>T (p.Asn1444Ile)
c.4337A>T (p.Asn1446Ile)
n.3085A>T
c.4334A>T (p.Asn1445Ile)
n.320A>T
n.823A>T
n.1019A>T
n.614A>T
n.797A>T
c.4343A>T (p.Asn1448Ile)
n.653A>T
c.4193A>T (p.Asn1398Ile)
c.4529A>T (p.Asn1510Ile)
c.389A>T (p.Asn130Ile)
19g.13259621T>CCA404339315CACNA1Ac.4331A>G (p.Asn1444Ser)
c.4337A>G (p.Asn1446Ser)
n.3085A>G
c.4334A>G (p.Asn1445Ser)
n.320A>G
n.823A>G
n.1019A>G
n.614A>G
n.797A>G
c.4343A>G (p.Asn1448Ser)
n.653A>G
c.4193A>G (p.Asn1398Ser)
c.4529A>G (p.Asn1510Ser)
c.389A>G (p.Asn130Ser)
19g.13259621T>GCA404339316CACNA1Ac.4331A>C (p.Asn1444Thr)
c.4337A>C (p.Asn1446Thr)
n.3085A>C
c.4334A>C (p.Asn1445Thr)
n.320A>C
n.823A>C
n.1019A>C
n.614A>C
n.797A>C
c.4343A>C (p.Asn1448Thr)
n.653A>C
c.4193A>C (p.Asn1398Thr)
c.4529A>C (p.Asn1510Thr)
c.389A>C (p.Asn130Thr)
19g.13259622T>ACA404339317CACNA1Ac.4330A>T (p.Asn1444Tyr)
c.4336A>T (p.Asn1446Tyr)
n.3084A>T
c.4333A>T (p.Asn1445Tyr)
n.319A>T
n.822A>T
n.1018A>T
n.613A>T
n.796A>T
c.4342A>T (p.Asn1448Tyr)
n.652A>T
c.4192A>T (p.Asn1398Tyr)
c.4528A>T (p.Asn1510Tyr)
c.388A>T (p.Asn130Tyr)
19g.13259622T>CCA404339318CACNA1Ac.4330A>G (p.Asn1444Asp)
c.4336A>G (p.Asn1446Asp)
n.3084A>G
c.4333A>G (p.Asn1445Asp)
n.319A>G
n.822A>G
n.1018A>G
n.613A>G
n.796A>G
c.4342A>G (p.Asn1448Asp)
n.652A>G
c.4192A>G (p.Asn1398Asp)
c.4528A>G (p.Asn1510Asp)
c.388A>G (p.Asn130Asp)
 gnomAD v4
19g.13259622T>GCA404339319CACNA1Ac.4330A>C (p.Asn1444His)
c.4336A>C (p.Asn1446His)
n.3084A>C
c.4333A>C (p.Asn1445His)
n.319A>C
n.822A>C
n.1018A>C
n.613A>C
n.796A>C
c.4342A>C (p.Asn1448His)
n.652A>C
c.4192A>C (p.Asn1398His)
c.4528A>C (p.Asn1510His)
c.388A>C (p.Asn130His)
19g.13259623G>ACA505659795CACNA1Ac.4329C>T (p.Asp1443=)
c.4335C>T (p.Asp1445=)
n.3083C>T
c.4332C>T (p.Asp1444=)
n.318C>T
n.821C>T
n.1017C>T
n.612C>T
n.795C>T
c.4341C>T (p.Asp1447=)
n.651C>T
c.4191C>T (p.Asp1397=)
c.4527C>T (p.Asp1509=)
c.387C>T (p.Asp129=)
19g.13259623G>CCA404339321CACNA1Ac.4329C>G (p.Asp1443Glu)
c.4335C>G (p.Asp1445Glu)
n.3083C>G
c.4332C>G (p.Asp1444Glu)
n.318C>G
n.821C>G
n.1017C>G
n.612C>G
n.795C>G
c.4341C>G (p.Asp1447Glu)
n.651C>G
c.4191C>G (p.Asp1397Glu)
c.4527C>G (p.Asp1509Glu)
c.387C>G (p.Asp129Glu)
19g.13259623G>TCA404339320CACNA1Ac.4329C>A (p.Asp1443Glu)
c.4335C>A (p.Asp1445Glu)
n.3083C>A
c.4332C>A (p.Asp1444Glu)
n.318C>A
n.821C>A
n.1017C>A
n.612C>A
n.795C>A
c.4341C>A (p.Asp1447Glu)
n.651C>A
c.4191C>A (p.Asp1397Glu)
c.4527C>A (p.Asp1509Glu)
c.387C>A (p.Asp129Glu)
19g.13259624T>ACA404339322CACNA1Ac.4328A>T (p.Asp1443Val)
c.4334A>T (p.Asp1445Val)
n.3082A>T
c.4331A>T (p.Asp1444Val)
n.317A>T
n.820A>T
n.1016A>T
n.611A>T
n.794A>T
c.4340A>T (p.Asp1447Val)
n.650A>T
c.4190A>T (p.Asp1397Val)
c.4526A>T (p.Asp1509Val)
c.386A>T (p.Asp129Val)
19g.13259624T>CCA404339323CACNA1Ac.4328A>G (p.Asp1443Gly)
c.4334A>G (p.Asp1445Gly)
n.3082A>G
c.4331A>G (p.Asp1444Gly)
n.317A>G
n.820A>G
n.1016A>G
n.611A>G
n.794A>G
c.4340A>G (p.Asp1447Gly)
n.650A>G
c.4190A>G (p.Asp1397Gly)
c.4526A>G (p.Asp1509Gly)
c.386A>G (p.Asp129Gly)
 ClinVar dbSNP
19g.13259624T>GCA404339324CACNA1Ac.4328A>C (p.Asp1443Ala)
c.4334A>C (p.Asp1445Ala)
n.3082A>C
c.4331A>C (p.Asp1444Ala)
n.317A>C
n.820A>C
n.1016A>C
n.611A>C
n.794A>C
c.4340A>C (p.Asp1447Ala)
n.650A>C
c.4190A>C (p.Asp1397Ala)
c.4526A>C (p.Asp1509Ala)
c.386A>C (p.Asp129Ala)
19g.13259624T=CA2323807493CACNA1Ac.4328A= (p.Asp1443=)
c.4334A= (p.Asp1445=)
n.3082A=
c.4331A= (p.Asp1444=)
n.317A=
n.820A=
n.1016A=
n.611A=
n.794A=
c.4340A= (p.Asp1447=)
n.650A=
c.4190A= (p.Asp1397=)
c.4526A= (p.Asp1509=)
c.386A= (p.Asp129=)
19g.13259625C>ACA404339325CACNA1Ac.4327G>T (p.Asp1443Tyr)
c.4333G>T (p.Asp1445Tyr)
n.3081G>T
c.4330G>T (p.Asp1444Tyr)
n.316G>T
n.819G>T
n.1015G>T
n.610G>T
n.793G>T
c.4339G>T (p.Asp1447Tyr)
n.649G>T
c.4189G>T (p.Asp1397Tyr)
c.4525G>T (p.Asp1509Tyr)
c.385G>T (p.Asp129Tyr)
19g.13259625C=CA2323807494CACNA1Ac.4327G= (p.Asp1443=)
c.4333G= (p.Asp1445=)
n.3081G=
c.4330G= (p.Asp1444=)
n.316G=
n.819G=
n.1015G=
n.610G=
n.793G=
c.4339G= (p.Asp1447=)
n.649G=
c.4189G= (p.Asp1397=)
c.4525G= (p.Asp1509=)
c.385G= (p.Asp129=)
19g.13259625C>GCA404339326CACNA1Ac.4327G>C (p.Asp1443His)
c.4333G>C (p.Asp1445His)
n.3081G>C
c.4330G>C (p.Asp1444His)
n.316G>C
n.819G>C
n.1015G>C
n.610G>C
n.793G>C
c.4339G>C (p.Asp1447His)
n.649G>C
c.4189G>C (p.Asp1397His)
c.4525G>C (p.Asp1509His)
c.385G>C (p.Asp129His)
19g.13259625C>TCA404339327CACNA1Ac.4327G>A (p.Asp1443Asn)
c.4333G>A (p.Asp1445Asn)
n.3081G>A
c.4330G>A (p.Asp1444Asn)
n.316G>A
n.819G>A
n.1015G>A
n.610G>A
n.793G>A
c.4339G>A (p.Asp1447Asn)
n.649G>A
c.4189G>A (p.Asp1397Asn)
c.4525G>A (p.Asp1509Asn)
c.385G>A (p.Asp129Asn)
 ClinVar dbSNP gnomAD v2
19g.13259626G>ACA9240032CACNA1Ac.4326C>T (p.Tyr1442=)
c.4332C>T (p.Tyr1444=)
n.3080C>T
c.4329C>T (p.Tyr1443=)
n.315C>T
n.818C>T
n.1014C>T
n.609C>T
n.792C>T
c.4338C>T (p.Tyr1446=)
n.648C>T
c.4188C>T (p.Tyr1396=)
c.4524C>T (p.Tyr1508=)
c.384C>T (p.Tyr128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13259626G>CCA404339329CACNA1Ac.4326C>G (p.Tyr1442Ter)
c.4332C>G (p.Tyr1444Ter)
n.3080C>G
c.4329C>G (p.Tyr1443Ter)
n.315C>G
n.818C>G
n.1014C>G
n.609C>G
n.792C>G
c.4338C>G (p.Tyr1446Ter)
n.648C>G
c.4188C>G (p.Tyr1396Ter)
c.4524C>G (p.Tyr1508Ter)
c.384C>G (p.Tyr128Ter)
19g.13259626G=CA2323807495CACNA1Ac.4326C= (p.Tyr1442=)
c.4332C= (p.Tyr1444=)
n.3080C=
c.4329C= (p.Tyr1443=)
n.315C=
n.818C=
n.1014C=
n.609C=
n.792C=
c.4338C= (p.Tyr1446=)
n.648C=
c.4188C= (p.Tyr1396=)
c.4524C= (p.Tyr1508=)
c.384C= (p.Tyr128=)
19g.13259626G>TCA404339328CACNA1Ac.4326C>A (p.Tyr1442Ter)
c.4332C>A (p.Tyr1444Ter)
n.3080C>A
c.4329C>A (p.Tyr1443Ter)
n.315C>A
n.818C>A
n.1014C>A
n.609C>A
n.792C>A
c.4338C>A (p.Tyr1446Ter)
n.648C>A
c.4188C>A (p.Tyr1396Ter)
c.4524C>A (p.Tyr1508Ter)
c.384C>A (p.Tyr128Ter)
19g.13259627T>ACA404339330CACNA1Ac.4325A>T (p.Tyr1442Phe)
c.4331A>T (p.Tyr1444Phe)
n.3079A>T
c.4328A>T (p.Tyr1443Phe)
n.314A>T
n.817A>T
n.1013A>T
n.608A>T
n.791A>T
c.4337A>T (p.Tyr1446Phe)
n.647A>T
c.4187A>T (p.Tyr1396Phe)
c.4523A>T (p.Tyr1508Phe)
c.383A>T (p.Tyr128Phe)
19g.13259627T>CCA404339331CACNA1Ac.4325A>G (p.Tyr1442Cys)
c.4331A>G (p.Tyr1444Cys)
n.3079A>G
c.4328A>G (p.Tyr1443Cys)
n.314A>G
n.817A>G
n.1013A>G
n.608A>G
n.791A>G
c.4337A>G (p.Tyr1446Cys)
n.647A>G
c.4187A>G (p.Tyr1396Cys)
c.4523A>G (p.Tyr1508Cys)
c.383A>G (p.Tyr128Cys)
19g.13259627T>GCA404339332CACNA1Ac.4325A>C (p.Tyr1442Ser)
c.4331A>C (p.Tyr1444Ser)
n.3079A>C
c.4328A>C (p.Tyr1443Ser)
n.314A>C
n.817A>C
n.1013A>C
n.608A>C
n.791A>C
c.4337A>C (p.Tyr1446Ser)
n.647A>C
c.4187A>C (p.Tyr1396Ser)
c.4523A>C (p.Tyr1508Ser)
c.383A>C (p.Tyr128Ser)
19g.13259628A=CA2323807496CACNA1Ac.4324T= (p.Tyr1442=)
c.4330T= (p.Tyr1444=)
n.3078T=
c.4327T= (p.Tyr1443=)
n.313T=
n.816T=
n.1012T=
n.607T=
n.790T=
c.4336T= (p.Tyr1446=)
n.646T=
c.4186T= (p.Tyr1396=)
c.4522T= (p.Tyr1508=)
c.382T= (p.Tyr128=)
19g.13259628A>CCA404339333CACNA1Ac.4324T>G (p.Tyr1442Asp)
c.4330T>G (p.Tyr1444Asp)
n.3078T>G
c.4327T>G (p.Tyr1443Asp)
n.313T>G
n.816T>G
n.1012T>G
n.607T>G
n.790T>G
c.4336T>G (p.Tyr1446Asp)
n.646T>G
c.4186T>G (p.Tyr1396Asp)
c.4522T>G (p.Tyr1508Asp)
c.382T>G (p.Tyr128Asp)
 ClinVar dbSNP
19g.13259628A>GCA404339334CACNA1Ac.4324T>C (p.Tyr1442His)
c.4330T>C (p.Tyr1444His)
n.3078T>C
c.4327T>C (p.Tyr1443His)
n.313T>C
n.816T>C
n.1012T>C
n.607T>C
n.790T>C
c.4336T>C (p.Tyr1446His)
n.646T>C
c.4186T>C (p.Tyr1396His)
c.4522T>C (p.Tyr1508His)
c.382T>C (p.Tyr128His)
19g.13259628A>TCA404339335CACNA1Ac.4324T>A (p.Tyr1442Asn)
c.4330T>A (p.Tyr1444Asn)
n.3078T>A
c.4327T>A (p.Tyr1443Asn)
n.313T>A
n.816T>A
n.1012T>A
n.607T>A
n.790T>A
c.4336T>A (p.Tyr1446Asn)
n.646T>A
c.4186T>A (p.Tyr1396Asn)
c.4522T>A (p.Tyr1508Asn)
c.382T>A (p.Tyr128Asn)
19g.13259629A>CCA404339336CACNA1Ac.4323T>G (p.His1441Gln)
c.4329T>G (p.His1443Gln)
n.3077T>G
c.4326T>G (p.His1442Gln)
n.312T>G
n.815T>G
n.1011T>G
n.606T>G
n.789T>G
c.4335T>G (p.His1445Gln)
n.645T>G
c.4185T>G (p.His1395Gln)
c.4521T>G (p.His1507Gln)
c.381T>G (p.His127Gln)
19g.13259629A>GCA505659796CACNA1Ac.4323T>C (p.His1441=)
c.4329T>C (p.His1443=)
n.3077T>C
c.4326T>C (p.His1442=)
n.312T>C
n.815T>C
n.1011T>C
n.606T>C
n.789T>C
c.4335T>C (p.His1445=)
n.645T>C
c.4185T>C (p.His1395=)
c.4521T>C (p.His1507=)
c.381T>C (p.His127=)
19g.13259629A>TCA404339337CACNA1Ac.4323T>A (p.His1441Gln)
c.4329T>A (p.His1443Gln)
n.3077T>A
c.4326T>A (p.His1442Gln)
n.312T>A
n.815T>A
n.1011T>A
n.606T>A
n.789T>A
c.4335T>A (p.His1445Gln)
n.645T>A
c.4185T>A (p.His1395Gln)
c.4521T>A (p.His1507Gln)
c.381T>A (p.His127Gln)
19g.13259630T>ACA404339338CACNA1Ac.4322A>T (p.His1441Leu)
c.4328A>T (p.His1443Leu)
n.3076A>T
c.4325A>T (p.His1442Leu)
n.311A>T
n.814A>T
n.1010A>T
n.605A>T
n.788A>T
c.4334A>T (p.His1445Leu)
n.644A>T
c.4184A>T (p.His1395Leu)
c.4520A>T (p.His1507Leu)
c.380A>T (p.His127Leu)
 ClinVar dbSNP
19g.13259630T>CCA404339339CACNA1Ac.4322A>G (p.His1441Arg)
c.4328A>G (p.His1443Arg)
n.3076A>G
c.4325A>G (p.His1442Arg)
n.311A>G
n.814A>G
n.1010A>G
n.605A>G
n.788A>G
c.4334A>G (p.His1445Arg)
n.644A>G
c.4184A>G (p.His1395Arg)
c.4520A>G (p.His1507Arg)
c.380A>G (p.His127Arg)
19g.13259630T>GCA404339340CACNA1Ac.4322A>C (p.His1441Pro)
c.4328A>C (p.His1443Pro)
n.3076A>C
c.4325A>C (p.His1442Pro)
n.311A>C
n.814A>C
n.1010A>C
n.605A>C
n.788A>C
c.4334A>C (p.His1445Pro)
n.644A>C
c.4184A>C (p.His1395Pro)
c.4520A>C (p.His1507Pro)
c.380A>C (p.His127Pro)
19g.13259631G>ACA404339341CACNA1Ac.4321C>T (p.His1441Tyr)
c.4327C>T (p.His1443Tyr)
n.3075C>T
c.4324C>T (p.His1442Tyr)
n.310C>T
n.813C>T
n.1009C>T
n.604C>T
n.787C>T
c.4333C>T (p.His1445Tyr)
n.643C>T
c.4183C>T (p.His1395Tyr)
c.4519C>T (p.His1507Tyr)
c.379C>T (p.His127Tyr)
19g.13259631G>CCA404339343CACNA1Ac.4321C>G (p.His1441Asp)
c.4327C>G (p.His1443Asp)
n.3075C>G
c.4324C>G (p.His1442Asp)
n.310C>G
n.813C>G
n.1009C>G
n.604C>G
n.787C>G
c.4333C>G (p.His1445Asp)
n.643C>G
c.4183C>G (p.His1395Asp)
c.4519C>G (p.His1507Asp)
c.379C>G (p.His127Asp)
19g.13259631G>TCA404339342CACNA1Ac.4321C>A (p.His1441Asn)
c.4327C>A (p.His1443Asn)
n.3075C>A
c.4324C>A (p.His1442Asn)
n.310C>A
n.813C>A
n.1009C>A
n.604C>A
n.787C>A
c.4333C>A (p.His1445Asn)
n.643C>A
c.4183C>A (p.His1395Asn)
c.4519C>A (p.His1507Asn)
c.379C>A (p.His127Asn)
19g.13259632G>ACA505659797CACNA1Ac.4320C>T (p.Phe1440=)
c.4326C>T (p.Phe1442=)
n.3074C>T
c.4323C>T (p.Phe1441=)
n.309C>T
n.812C>T
n.1008C>T
n.603C>T
n.786C>T
c.4332C>T (p.Phe1444=)
n.642C>T
c.4182C>T (p.Phe1394=)
c.4518C>T (p.Phe1506=)
c.378C>T (p.Phe126=)
 dbSNP gnomAD v4
19g.13259632G>CCA404339344CACNA1Ac.4320C>G (p.Phe1440Leu)
c.4326C>G (p.Phe1442Leu)
n.3074C>G
c.4323C>G (p.Phe1441Leu)
n.309C>G
n.812C>G
n.1008C>G
n.603C>G
n.786C>G
c.4332C>G (p.Phe1444Leu)
n.642C>G
c.4182C>G (p.Phe1394Leu)
c.4518C>G (p.Phe1506Leu)
c.378C>G (p.Phe126Leu)
19g.13259632G=CA2323807497CACNA1Ac.4320C= (p.Phe1440=)
c.4326C= (p.Phe1442=)
n.3074C=
c.4323C= (p.Phe1441=)
n.309C=
n.812C=
n.1008C=
n.603C=
n.786C=
c.4332C= (p.Phe1444=)
n.642C=
c.4182C= (p.Phe1394=)
c.4518C= (p.Phe1506=)
c.378C= (p.Phe126=)
19g.13259632G>TCA404339345CACNA1Ac.4320C>A (p.Phe1440Leu)
c.4326C>A (p.Phe1442Leu)
n.3074C>A
c.4323C>A (p.Phe1441Leu)
n.309C>A
n.812C>A
n.1008C>A
n.603C>A
n.786C>A
c.4332C>A (p.Phe1444Leu)
n.642C>A
c.4182C>A (p.Phe1394Leu)
c.4518C>A (p.Phe1506Leu)
c.378C>A (p.Phe126Leu)
 gnomAD v4
19g.13259633A>CCA404339346CACNA1Ac.4319T>G (p.Phe1440Cys)
c.4325T>G (p.Phe1442Cys)
n.3073T>G
c.4322T>G (p.Phe1441Cys)
n.308T>G
n.811T>G
n.1007T>G
n.602T>G
n.785T>G
c.4331T>G (p.Phe1444Cys)
n.641T>G
c.4181T>G (p.Phe1394Cys)
c.4517T>G (p.Phe1506Cys)
c.377T>G (p.Phe126Cys)
19g.13259633A>GCA404339348CACNA1Ac.4319T>C (p.Phe1440Ser)
c.4325T>C (p.Phe1442Ser)
n.3073T>C
c.4322T>C (p.Phe1441Ser)
n.308T>C
n.811T>C
n.1007T>C
n.602T>C
n.785T>C
c.4331T>C (p.Phe1444Ser)
n.641T>C
c.4181T>C (p.Phe1394Ser)
c.4517T>C (p.Phe1506Ser)
c.377T>C (p.Phe126Ser)
19g.13259633A>TCA404339347CACNA1Ac.4319T>A (p.Phe1440Tyr)
c.4325T>A (p.Phe1442Tyr)
n.3073T>A
c.4322T>A (p.Phe1441Tyr)
n.308T>A
n.811T>A
n.1007T>A
n.602T>A
n.785T>A
c.4331T>A (p.Phe1444Tyr)
n.641T>A
c.4181T>A (p.Phe1394Tyr)
c.4517T>A (p.Phe1506Tyr)
c.377T>A (p.Phe126Tyr)
19g.13259634A>CCA404339349CACNA1Ac.4318T>G (p.Phe1440Val)
c.4324T>G (p.Phe1442Val)
n.3072T>G
c.4321T>G (p.Phe1441Val)
n.307T>G
n.810T>G
n.1006T>G
n.601T>G
n.784T>G
c.4330T>G (p.Phe1444Val)
n.640T>G
c.4180T>G (p.Phe1394Val)
c.4516T>G (p.Phe1506Val)
c.376T>G (p.Phe126Val)
19g.13259634A>GCA404339351CACNA1Ac.4318T>C (p.Phe1440Leu)
c.4324T>C (p.Phe1442Leu)
n.3072T>C
c.4321T>C (p.Phe1441Leu)
n.307T>C
n.810T>C
n.1006T>C
n.601T>C
n.784T>C
c.4330T>C (p.Phe1444Leu)
n.640T>C
c.4180T>C (p.Phe1394Leu)
c.4516T>C (p.Phe1506Leu)
c.376T>C (p.Phe126Leu)
19g.13259634A>TCA404339350CACNA1Ac.4318T>A (p.Phe1440Ile)
c.4324T>A (p.Phe1442Ile)
n.3072T>A
c.4321T>A (p.Phe1441Ile)
n.307T>A
n.810T>A
n.1006T>A
n.601T>A
n.784T>A
c.4330T>A (p.Phe1444Ile)
n.640T>A
c.4180T>A (p.Phe1394Ile)
c.4516T>A (p.Phe1506Ile)
c.376T>A (p.Phe126Ile)
 COSMIC COSMIC COSMIC COSMIC
19g.13259635T>ACA404339352CACNA1Ac.4317A>T (p.Glu1439Asp)
c.4323A>T (p.Glu1441Asp)
n.3071A>T
c.4320A>T (p.Glu1440Asp)
n.306A>T
n.809A>T
n.1005A>T
n.600A>T
n.783A>T
c.4329A>T (p.Glu1443Asp)
n.639A>T
c.4179A>T (p.Glu1393Asp)
c.4515A>T (p.Glu1505Asp)
c.375A>T (p.Glu125Asp)
19g.13259635T>CCA505659798CACNA1Ac.4317A>G (p.Glu1439=)
c.4323A>G (p.Glu1441=)
n.3071A>G
c.4320A>G (p.Glu1440=)
n.306A>G
n.809A>G
n.1005A>G
n.600A>G
n.783A>G
c.4329A>G (p.Glu1443=)
n.639A>G
c.4179A>G (p.Glu1393=)
c.4515A>G (p.Glu1505=)
c.375A>G (p.Glu125=)
19g.13259635T>GCA404339353CACNA1Ac.4317A>C (p.Glu1439Asp)
c.4323A>C (p.Glu1441Asp)
n.3071A>C
c.4320A>C (p.Glu1440Asp)
n.306A>C
n.809A>C
n.1005A>C
n.600A>C
n.783A>C
c.4329A>C (p.Glu1443Asp)
n.639A>C
c.4179A>C (p.Glu1393Asp)
c.4515A>C (p.Glu1505Asp)
c.375A>C (p.Glu125Asp)
19g.13259636T>ACA404339354CACNA1Ac.4316A>T (p.Glu1439Val)
c.4322A>T (p.Glu1441Val)
n.3070A>T
c.4319A>T (p.Glu1440Val)
n.305A>T
n.808A>T
n.1004A>T
n.599A>T
n.782A>T
c.4328A>T (p.Glu1443Val)
n.638A>T
c.4178A>T (p.Glu1393Val)
c.4514A>T (p.Glu1505Val)
c.374A>T (p.Glu125Val)
19g.13259636T>CCA404339355CACNA1Ac.4316A>G (p.Glu1439Gly)
c.4322A>G (p.Glu1441Gly)
n.3070A>G
c.4319A>G (p.Glu1440Gly)
n.305A>G
n.808A>G
n.1004A>G
n.599A>G
n.782A>G
c.4328A>G (p.Glu1443Gly)
n.638A>G
c.4178A>G (p.Glu1393Gly)
c.4514A>G (p.Glu1505Gly)
c.374A>G (p.Glu125Gly)
19g.13259636T>GCA404339356CACNA1Ac.4316A>C (p.Glu1439Ala)
c.4322A>C (p.Glu1441Ala)
n.3070A>C
c.4319A>C (p.Glu1440Ala)
n.305A>C
n.808A>C
n.1004A>C
n.599A>C
n.782A>C
c.4328A>C (p.Glu1443Ala)
n.638A>C
c.4178A>C (p.Glu1393Ala)
c.4514A>C (p.Glu1505Ala)
c.374A>C (p.Glu125Ala)
19g.13259637C>ACA404339357CACNA1Ac.4315G>T (p.Glu1439Ter)
c.4321G>T (p.Glu1441Ter)
n.3069G>T
c.4318G>T (p.Glu1440Ter)
n.304G>T
n.807G>T
n.1003G>T
n.598G>T
n.781G>T
c.4327G>T (p.Glu1443Ter)
n.637G>T
c.4177G>T (p.Glu1393Ter)
c.4513G>T (p.Glu1505Ter)
c.373G>T (p.Glu125Ter)
19g.13259637C>GCA404339358CACNA1Ac.4315G>C (p.Glu1439Gln)
c.4321G>C (p.Glu1441Gln)
n.3069G>C
c.4318G>C (p.Glu1440Gln)
n.304G>C
n.807G>C
n.1003G>C
n.598G>C
n.781G>C
c.4327G>C (p.Glu1443Gln)
n.637G>C
c.4177G>C (p.Glu1393Gln)
c.4513G>C (p.Glu1505Gln)
c.373G>C (p.Glu125Gln)
19g.13259637C>TCA404339359CACNA1Ac.4315G>A (p.Glu1439Lys)
c.4321G>A (p.Glu1441Lys)
n.3069G>A
c.4318G>A (p.Glu1440Lys)
n.304G>A
n.807G>A
n.1003G>A
n.598G>A
n.781G>A
c.4327G>A (p.Glu1443Lys)
n.637G>A
c.4177G>A (p.Glu1393Lys)
c.4513G>A (p.Glu1505Lys)
c.373G>A (p.Glu125Lys)
 COSMIC COSMIC COSMIC COSMIC
19g.13259638A=CA2323807498CACNA1Ac.4314T= (p.Tyr1438=)
c.4320T= (p.Tyr1440=)
n.3068T=
c.4317T= (p.Tyr1439=)
n.303T=
n.806T=
n.1002T=
n.597T=
n.780T=
c.4326T= (p.Tyr1442=)
n.636T=
c.4176T= (p.Tyr1392=)
c.4512T= (p.Tyr1504=)
c.372T= (p.Tyr124=)
19g.13259638A>CCA404339360CACNA1Ac.4314T>G (p.Tyr1438Ter)
c.4320T>G (p.Tyr1440Ter)
n.3068T>G
c.4317T>G (p.Tyr1439Ter)
n.303T>G
n.806T>G
n.1002T>G
n.597T>G
n.780T>G
c.4326T>G (p.Tyr1442Ter)
n.636T>G
c.4176T>G (p.Tyr1392Ter)
c.4512T>G (p.Tyr1504Ter)
c.372T>G (p.Tyr124Ter)
 ClinVar
19g.13259638A>GCA9240033CACNA1Ac.4314T>C (p.Tyr1438=)
c.4320T>C (p.Tyr1440=)
n.3068T>C
c.4317T>C (p.Tyr1439=)
n.303T>C
n.806T>C
n.1002T>C
n.597T>C
n.780T>C
c.4326T>C (p.Tyr1442=)
n.636T>C
c.4176T>C (p.Tyr1392=)
c.4512T>C (p.Tyr1504=)
c.372T>C (p.Tyr124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259638A>TCA404339361CACNA1Ac.4314T>A (p.Tyr1438Ter)
c.4320T>A (p.Tyr1440Ter)
n.3068T>A
c.4317T>A (p.Tyr1439Ter)
n.303T>A
n.806T>A
n.1002T>A
n.597T>A
n.780T>A
c.4326T>A (p.Tyr1442Ter)
n.636T>A
c.4176T>A (p.Tyr1392Ter)
c.4512T>A (p.Tyr1504Ter)
c.372T>A (p.Tyr124Ter)
19g.13259639T>ACA404339362CACNA1Ac.4313A>T (p.Tyr1438Phe)
c.4319A>T (p.Tyr1440Phe)
n.3067A>T
c.4316A>T (p.Tyr1439Phe)
n.302A>T
n.805A>T
n.1001A>T
n.596A>T
n.779A>T
c.4325A>T (p.Tyr1442Phe)
n.635A>T
c.4175A>T (p.Tyr1392Phe)
c.4511A>T (p.Tyr1504Phe)
c.371A>T (p.Tyr124Phe)
19g.13259639T>CCA404339363CACNA1Ac.4313A>G (p.Tyr1438Cys)
c.4319A>G (p.Tyr1440Cys)
n.3067A>G
c.4316A>G (p.Tyr1439Cys)
n.302A>G
n.805A>G
n.1001A>G
n.596A>G
n.779A>G
c.4325A>G (p.Tyr1442Cys)
n.635A>G
c.4175A>G (p.Tyr1392Cys)
c.4511A>G (p.Tyr1504Cys)
c.371A>G (p.Tyr124Cys)
19g.13259639T>GCA404339364CACNA1Ac.4313A>C (p.Tyr1438Ser)
c.4319A>C (p.Tyr1440Ser)
n.3067A>C
c.4316A>C (p.Tyr1439Ser)
n.302A>C
n.805A>C
n.1001A>C
n.596A>C
n.779A>C
c.4325A>C (p.Tyr1442Ser)
n.635A>C
c.4175A>C (p.Tyr1392Ser)
c.4511A>C (p.Tyr1504Ser)
c.371A>C (p.Tyr124Ser)
19g.13259640A>CCA404339367CACNA1Ac.4312T>G (p.Tyr1438Asp)
c.4318T>G (p.Tyr1440Asp)
n.3066T>G
c.4315T>G (p.Tyr1439Asp)
n.301T>G
n.804T>G
n.1000T>G
n.595T>G
n.778T>G
c.4324T>G (p.Tyr1442Asp)
n.634T>G
c.4174T>G (p.Tyr1392Asp)
c.4510T>G (p.Tyr1504Asp)
c.370T>G (p.Tyr124Asp)
19g.13259640A>GCA404339365CACNA1Ac.4312T>C (p.Tyr1438His)
c.4318T>C (p.Tyr1440His)
n.3066T>C
c.4315T>C (p.Tyr1439His)
n.301T>C
n.804T>C
n.1000T>C
n.595T>C
n.778T>C
c.4324T>C (p.Tyr1442His)
n.634T>C
c.4174T>C (p.Tyr1392His)
c.4510T>C (p.Tyr1504His)
c.370T>C (p.Tyr124His)
19g.13259640A>TCA404339366CACNA1Ac.4312T>A (p.Tyr1438Asn)
c.4318T>A (p.Tyr1440Asn)
n.3066T>A
c.4315T>A (p.Tyr1439Asn)
n.301T>A
n.804T>A
n.1000T>A
n.595T>A
n.778T>A
c.4324T>A (p.Tyr1442Asn)
n.634T>A
c.4174T>A (p.Tyr1392Asn)
c.4510T>A (p.Tyr1504Asn)
c.370T>A (p.Tyr124Asn)
19g.13259641C>ACA404339368CACNA1Ac.4311G>T (p.Lys1437Asn)
c.4317G>T (p.Lys1439Asn)
n.3065G>T
c.4314G>T (p.Lys1438Asn)
n.300G>T
n.803G>T
n.999G>T
n.594G>T
n.777G>T
c.4323G>T (p.Lys1441Asn)
n.633G>T
c.4173G>T (p.Lys1391Asn)
c.4509G>T (p.Lys1503Asn)
c.369G>T (p.Lys123Asn)
19g.13259641C=CA2323807499CACNA1Ac.4311G= (p.Lys1437=)
c.4317G= (p.Lys1439=)
n.3065G=
c.4314G= (p.Lys1438=)
n.300G=
n.803G=
n.999G=
n.594G=
n.777G=
c.4323G= (p.Lys1441=)
n.633G=
c.4173G= (p.Lys1391=)
c.4509G= (p.Lys1503=)
c.369G= (p.Lys123=)
19g.13259641C>GCA404339369CACNA1Ac.4311G>C (p.Lys1437Asn)
c.4317G>C (p.Lys1439Asn)
n.3065G>C
c.4314G>C (p.Lys1438Asn)
n.300G>C
n.803G>C
n.999G>C
n.594G>C
n.777G>C
c.4323G>C (p.Lys1441Asn)
n.633G>C
c.4173G>C (p.Lys1391Asn)
c.4509G>C (p.Lys1503Asn)
c.369G>C (p.Lys123Asn)
19g.13259641C>TCA9240034CACNA1Ac.4311G>A (p.Lys1437=)
c.4317G>A (p.Lys1439=)
n.3065G>A
c.4314G>A (p.Lys1438=)
n.300G>A
n.803G>A
n.999G>A
n.594G>A
n.777G>A
c.4323G>A (p.Lys1441=)
n.633G>A
c.4173G>A (p.Lys1391=)
c.4509G>A (p.Lys1503=)
c.369G>A (p.Lys123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259642T>ACA404339370CACNA1Ac.4310A>T (p.Lys1437Met)
c.4316A>T (p.Lys1439Met)
n.3064A>T
c.4313A>T (p.Lys1438Met)
n.299A>T
n.802A>T
n.998A>T
n.593A>T
n.776A>T
c.4322A>T (p.Lys1441Met)
n.632A>T
c.4172A>T (p.Lys1391Met)
c.4508A>T (p.Lys1503Met)
c.368A>T (p.Lys123Met)
19g.13259642T>CCA9240035CACNA1Ac.4310A>G (p.Lys1437Arg)
c.4316A>G (p.Lys1439Arg)
n.3064A>G
c.4313A>G (p.Lys1438Arg)
n.299A>G
n.802A>G
n.998A>G
n.593A>G
n.776A>G
c.4322A>G (p.Lys1441Arg)
n.632A>G
c.4172A>G (p.Lys1391Arg)
c.4508A>G (p.Lys1503Arg)
c.368A>G (p.Lys123Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13259642T>GCA404339371CACNA1Ac.4310A>C (p.Lys1437Thr)
c.4316A>C (p.Lys1439Thr)
n.3064A>C
c.4313A>C (p.Lys1438Thr)
n.299A>C
n.802A>C
n.998A>C
n.593A>C
n.776A>C
c.4322A>C (p.Lys1441Thr)
n.632A>C
c.4172A>C (p.Lys1391Thr)
c.4508A>C (p.Lys1503Thr)
c.368A>C (p.Lys123Thr)
19g.13259642T=CA2323807500CACNA1Ac.4310A= (p.Lys1437=)
c.4316A= (p.Lys1439=)
n.3064A=
c.4313A= (p.Lys1438=)
n.299A=
n.802A=
n.998A=
n.593A=
n.776A=
c.4322A= (p.Lys1441=)
n.632A=
c.4172A= (p.Lys1391=)
c.4508A= (p.Lys1503=)
c.368A= (p.Lys123=)
19g.13259643T>ACA404339372CACNA1Ac.4309A>T (p.Lys1437Ter)
c.4315A>T (p.Lys1439Ter)
n.3063A>T
c.4312A>T (p.Lys1438Ter)
n.298A>T
n.801A>T
n.997A>T
n.592A>T
n.775A>T
c.4321A>T (p.Lys1441Ter)
n.631A>T
c.4171A>T (p.Lys1391Ter)
c.4507A>T (p.Lys1503Ter)
c.367A>T (p.Lys123Ter)
19g.13259643T>CCA404339373CACNA1Ac.4309A>G (p.Lys1437Glu)
c.4315A>G (p.Lys1439Glu)
n.3063A>G
c.4312A>G (p.Lys1438Glu)
n.298A>G
n.801A>G
n.997A>G
n.592A>G
n.775A>G
c.4321A>G (p.Lys1441Glu)
n.631A>G
c.4171A>G (p.Lys1391Glu)
c.4507A>G (p.Lys1503Glu)
c.367A>G (p.Lys123Glu)
19g.13259643T>GCA404339374CACNA1Ac.4309A>C (p.Lys1437Gln)
c.4315A>C (p.Lys1439Gln)
n.3063A>C
c.4312A>C (p.Lys1438Gln)
n.298A>C
n.801A>C
n.997A>C
n.592A>C
n.775A>C
c.4321A>C (p.Lys1441Gln)
n.631A>C
c.4171A>C (p.Lys1391Gln)
c.4507A>C (p.Lys1503Gln)
c.367A>C (p.Lys123Gln)
19g.13259644C>ACA404339375CACNA1Ac.4308G>T (p.Lys1436Asn)
c.4314G>T (p.Lys1438Asn)
n.3062G>T
c.4311G>T (p.Lys1437Asn)
n.297G>T
n.800G>T
n.996G>T
n.591G>T
n.774G>T
c.4320G>T (p.Lys1440Asn)
n.630G>T
c.4170G>T (p.Lys1390Asn)
c.4506G>T (p.Lys1502Asn)
c.366G>T (p.Lys122Asn)
19g.13259644C=CA2323807501CACNA1Ac.4308G= (p.Lys1436=)
c.4314G= (p.Lys1438=)
n.3062G=
c.4311G= (p.Lys1437=)
n.297G=
n.800G=
n.996G=
n.591G=
n.774G=
c.4320G= (p.Lys1440=)
n.630G=
c.4170G= (p.Lys1390=)
c.4506G= (p.Lys1502=)
c.366G= (p.Lys122=)
19g.13259644C>GCA404339376CACNA1Ac.4308G>C (p.Lys1436Asn)
c.4314G>C (p.Lys1438Asn)
n.3062G>C
c.4311G>C (p.Lys1437Asn)
n.297G>C
n.800G>C
n.996G>C
n.591G>C
n.774G>C
c.4320G>C (p.Lys1440Asn)
n.630G>C
c.4170G>C (p.Lys1390Asn)
c.4506G>C (p.Lys1502Asn)
c.366G>C (p.Lys122Asn)
19g.13259644C>TCA505659800CACNA1Ac.4308G>A (p.Lys1436=)
c.4314G>A (p.Lys1438=)
n.3062G>A
c.4311G>A (p.Lys1437=)
n.297G>A
n.800G>A
n.996G>A
n.591G>A
n.774G>A
c.4320G>A (p.Lys1440=)
n.630G>A
c.4170G>A (p.Lys1390=)
c.4506G>A (p.Lys1502=)
c.366G>A (p.Lys122=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13259645T>ACA404339379CACNA1Ac.4307A>T (p.Lys1436Met)
c.4313A>T (p.Lys1438Met)
n.3061A>T
c.4310A>T (p.Lys1437Met)
n.296A>T
n.799A>T
n.995A>T
n.590A>T
n.773A>T
c.4319A>T (p.Lys1440Met)
n.629A>T
c.4169A>T (p.Lys1390Met)
c.4505A>T (p.Lys1502Met)
c.365A>T (p.Lys122Met)
19g.13259645T>CCA404339378CACNA1Ac.4307A>G (p.Lys1436Arg)
c.4313A>G (p.Lys1438Arg)
n.3061A>G
c.4310A>G (p.Lys1437Arg)
n.296A>G
n.799A>G
n.995A>G
n.590A>G
n.773A>G
c.4319A>G (p.Lys1440Arg)
n.629A>G
c.4169A>G (p.Lys1390Arg)
c.4505A>G (p.Lys1502Arg)
c.365A>G (p.Lys122Arg)
 gnomAD v4
19g.13259645T>GCA404339377CACNA1Ac.4307A>C (p.Lys1436Thr)
c.4313A>C (p.Lys1438Thr)
n.3061A>C
c.4310A>C (p.Lys1437Thr)
n.296A>C
n.799A>C
n.995A>C
n.590A>C
n.773A>C
c.4319A>C (p.Lys1440Thr)
n.629A>C
c.4169A>C (p.Lys1390Thr)
c.4505A>C (p.Lys1502Thr)
c.365A>C (p.Lys122Thr)
19g.13259646T>ACA404339380CACNA1Ac.4306A>T (p.Lys1436Ter)
c.4312A>T (p.Lys1438Ter)
n.3060A>T
c.4309A>T (p.Lys1437Ter)
n.295A>T
n.798A>T
n.994A>T
n.589A>T
n.772A>T
c.4318A>T (p.Lys1440Ter)
n.628A>T
c.4168A>T (p.Lys1390Ter)
c.4504A>T (p.Lys1502Ter)
c.364A>T (p.Lys122Ter)
19g.13259646T>CCA404339381CACNA1Ac.4306A>G (p.Lys1436Glu)
c.4312A>G (p.Lys1438Glu)
n.3060A>G
c.4309A>G (p.Lys1437Glu)
n.295A>G
n.798A>G
n.994A>G
n.589A>G
n.772A>G
c.4318A>G (p.Lys1440Glu)
n.628A>G
c.4168A>G (p.Lys1390Glu)
c.4504A>G (p.Lys1502Glu)
c.364A>G (p.Lys122Glu)
19g.13259646T>GCA404339382CACNA1Ac.4306A>C (p.Lys1436Gln)
c.4312A>C (p.Lys1438Gln)
n.3060A>C
c.4309A>C (p.Lys1437Gln)
n.295A>C
n.798A>C
n.994A>C
n.589A>C
n.772A>C
c.4318A>C (p.Lys1440Gln)
n.628A>C
c.4168A>C (p.Lys1390Gln)
c.4504A>C (p.Lys1502Gln)
c.364A>C (p.Lys122Gln)
19g.13259647C>ACA404339383CACNA1Ac.4305G>T (p.Trp1435Cys)
c.4311G>T (p.Trp1437Cys)
n.3059G>T
c.4308G>T (p.Trp1436Cys)
n.294G>T
n.797G>T
n.993G>T
n.588G>T
n.771G>T
c.4317G>T (p.Trp1439Cys)
n.627G>T
c.4167G>T (p.Trp1389Cys)
c.4503G>T (p.Trp1501Cys)
c.363G>T (p.Trp121Cys)
19g.13259647C>GCA404339384CACNA1Ac.4305G>C (p.Trp1435Cys)
c.4311G>C (p.Trp1437Cys)
n.3059G>C
c.4308G>C (p.Trp1436Cys)
n.294G>C
n.797G>C
n.993G>C
n.588G>C
n.771G>C
c.4317G>C (p.Trp1439Cys)
n.627G>C
c.4167G>C (p.Trp1389Cys)
c.4503G>C (p.Trp1501Cys)
c.363G>C (p.Trp121Cys)
19g.13259647C>TCA404339385CACNA1Ac.4305G>A (p.Trp1435Ter)
c.4311G>A (p.Trp1437Ter)
n.3059G>A
c.4308G>A (p.Trp1436Ter)
n.294G>A
n.797G>A
n.993G>A
n.588G>A
n.771G>A
c.4317G>A (p.Trp1439Ter)
n.627G>A
c.4167G>A (p.Trp1389Ter)
c.4503G>A (p.Trp1501Ter)
c.363G>A (p.Trp121Ter)
 COSMIC COSMIC COSMIC COSMIC
19g.13259648C>ACA404339386CACNA1Ac.4304G>T (p.Trp1435Leu)
c.4310G>T (p.Trp1437Leu)
n.3058G>T
c.4307G>T (p.Trp1436Leu)
n.293G>T
n.796G>T
n.992G>T
n.587G>T
n.770G>T
c.4316G>T (p.Trp1439Leu)
n.626G>T
c.4166G>T (p.Trp1389Leu)
c.4502G>T (p.Trp1501Leu)
c.362G>T (p.Trp121Leu)
19g.13259648C>GCA404339387CACNA1Ac.4304G>C (p.Trp1435Ser)
c.4310G>C (p.Trp1437Ser)
n.3058G>C
c.4307G>C (p.Trp1436Ser)
n.293G>C
n.796G>C
n.992G>C
n.587G>C
n.770G>C
c.4316G>C (p.Trp1439Ser)
n.626G>C
c.4166G>C (p.Trp1389Ser)
c.4502G>C (p.Trp1501Ser)
c.362G>C (p.Trp121Ser)
19g.13259648C>TCA404339388CACNA1Ac.4304G>A (p.Trp1435Ter)
c.4310G>A (p.Trp1437Ter)
n.3058G>A
c.4307G>A (p.Trp1436Ter)
n.293G>A
n.796G>A
n.992G>A
n.587G>A
n.770G>A
c.4316G>A (p.Trp1439Ter)
n.626G>A
c.4166G>A (p.Trp1389Ter)
c.4502G>A (p.Trp1501Ter)
c.362G>A (p.Trp121Ter)
 gnomAD v4
19g.13259649A>CCA404339389CACNA1Ac.4303T>G (p.Trp1435Gly)
c.4309T>G (p.Trp1437Gly)
n.3057T>G
c.4306T>G (p.Trp1436Gly)
n.292T>G
n.795T>G
n.991T>G
n.586T>G
n.769T>G
c.4315T>G (p.Trp1439Gly)
n.625T>G
c.4165T>G (p.Trp1389Gly)
c.4501T>G (p.Trp1501Gly)
c.361T>G (p.Trp121Gly)
19g.13259649A>GCA404339390CACNA1Ac.4303T>C (p.Trp1435Arg)
c.4309T>C (p.Trp1437Arg)
n.3057T>C
c.4306T>C (p.Trp1436Arg)
n.292T>C
n.795T>C
n.991T>C
n.586T>C
n.769T>C
c.4315T>C (p.Trp1439Arg)
n.625T>C
c.4165T>C (p.Trp1389Arg)
c.4501T>C (p.Trp1501Arg)
c.361T>C (p.Trp121Arg)
19g.13259649A>TCA404339391CACNA1Ac.4303T>A (p.Trp1435Arg)
c.4309T>A (p.Trp1437Arg)
n.3057T>A
c.4306T>A (p.Trp1436Arg)
n.292T>A
n.795T>A
n.991T>A
n.586T>A
n.769T>A
c.4315T>A (p.Trp1439Arg)
n.625T>A
c.4165T>A (p.Trp1389Arg)
c.4501T>A (p.Trp1501Arg)
c.361T>A (p.Trp121Arg)
19g.13259650C>ACA404339393CACNA1Ac.4302G>T (p.Glu1434Asp)
c.4308G>T (p.Glu1436Asp)
n.3056G>T
c.4305G>T (p.Glu1435Asp)
n.291G>T
n.794G>T
n.990G>T
n.585G>T
n.768G>T
c.4314G>T (p.Glu1438Asp)
n.624G>T
c.4164G>T (p.Glu1388Asp)
c.4500G>T (p.Glu1500Asp)
c.360G>T (p.Glu120Asp)
19g.13259650C=CA2323807502CACNA1Ac.4302G= (p.Glu1434=)
c.4308G= (p.Glu1436=)
n.3056G=
c.4305G= (p.Glu1435=)
n.291G=
n.794G=
n.990G=
n.585G=
n.768G=
c.4314G= (p.Glu1438=)
n.624G=
c.4164G= (p.Glu1388=)
c.4500G= (p.Glu1500=)
c.360G= (p.Glu120=)
19g.13259650C>GCA404339392CACNA1Ac.4302G>C (p.Glu1434Asp)
c.4308G>C (p.Glu1436Asp)
n.3056G>C
c.4305G>C (p.Glu1435Asp)
n.291G>C
n.794G>C
n.990G>C
n.585G>C
n.768G>C
c.4314G>C (p.Glu1438Asp)
n.624G>C
c.4164G>C (p.Glu1388Asp)
c.4500G>C (p.Glu1500Asp)
c.360G>C (p.Glu120Asp)
19g.13259650C>TCA305539442CACNA1Ac.4302G>A (p.Glu1434=)
c.4308G>A (p.Glu1436=)
n.3056G>A
c.4305G>A (p.Glu1435=)
n.291G>A
n.794G>A
n.990G>A
n.585G>A
n.768G>A
c.4314G>A (p.Glu1438=)
n.624G>A
c.4164G>A (p.Glu1388=)
c.4500G>A (p.Glu1500=)
c.360G>A (p.Glu120=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259651T>ACA404339394CACNA1Ac.4301A>T (p.Glu1434Val)
c.4307A>T (p.Glu1436Val)
n.3055A>T
c.4304A>T (p.Glu1435Val)
n.290A>T
n.793A>T
n.989A>T
n.584A>T
n.767A>T
c.4313A>T (p.Glu1438Val)
n.623A>T
c.4163A>T (p.Glu1388Val)
c.4499A>T (p.Glu1500Val)
c.359A>T (p.Glu120Val)
19g.13259651T>CCA404339395CACNA1Ac.4301A>G (p.Glu1434Gly)
c.4307A>G (p.Glu1436Gly)
n.3055A>G
c.4304A>G (p.Glu1435Gly)
n.290A>G
n.793A>G
n.989A>G
n.584A>G
n.767A>G
c.4313A>G (p.Glu1438Gly)
n.623A>G
c.4163A>G (p.Glu1388Gly)
c.4499A>G (p.Glu1500Gly)
c.359A>G (p.Glu120Gly)
19g.13259651T>GCA404339396CACNA1Ac.4301A>C (p.Glu1434Ala)
c.4307A>C (p.Glu1436Ala)
n.3055A>C
c.4304A>C (p.Glu1435Ala)
n.290A>C
n.793A>C
n.989A>C
n.584A>C
n.767A>C
c.4313A>C (p.Glu1438Ala)
n.623A>C
c.4163A>C (p.Glu1388Ala)
c.4499A>C (p.Glu1500Ala)
c.359A>C (p.Glu120Ala)
19g.13259652C>ACA404339397CACNA1Ac.4300G>T (p.Glu1434Ter)
c.4306G>T (p.Glu1436Ter)
n.3054G>T
c.4303G>T (p.Glu1435Ter)
n.289G>T
n.792G>T
n.988G>T
n.583G>T
n.766G>T
c.4312G>T (p.Glu1438Ter)
n.622G>T
c.4162G>T (p.Glu1388Ter)
c.4498G>T (p.Glu1500Ter)
c.358G>T (p.Glu120Ter)
 gnomAD v4
19g.13259652C>GCA404339398CACNA1Ac.4300G>C (p.Glu1434Gln)
c.4306G>C (p.Glu1436Gln)
n.3054G>C
c.4303G>C (p.Glu1435Gln)
n.289G>C
n.792G>C
n.988G>C
n.583G>C
n.766G>C
c.4312G>C (p.Glu1438Gln)
n.622G>C
c.4162G>C (p.Glu1388Gln)
c.4498G>C (p.Glu1500Gln)
c.358G>C (p.Glu120Gln)
 gnomAD v4
19g.13259652C>TCA404339399CACNA1Ac.4300G>A (p.Glu1434Lys)
c.4306G>A (p.Glu1436Lys)
n.3054G>A
c.4303G>A (p.Glu1435Lys)
n.289G>A
n.792G>A
n.988G>A
n.583G>A
n.766G>A
c.4312G>A (p.Glu1438Lys)
n.622G>A
c.4162G>A (p.Glu1388Lys)
c.4498G>A (p.Glu1500Lys)
c.358G>A (p.Glu120Lys)
19g.13259653C>ACA505659807CACNA1Ac.4299G>T (p.Arg1433=)
c.4305G>T (p.Arg1435=)
n.3053G>T
c.4302G>T (p.Arg1434=)
n.288G>T
n.791G>T
n.987G>T
n.582G>T
n.765G>T
c.4311G>T (p.Arg1437=)
n.621G>T
c.4161G>T (p.Arg1387=)
c.4497G>T (p.Arg1499=)
c.357G>T (p.Arg119=)
 gnomAD v4
19g.13259653C>GCA505659808CACNA1Ac.4299G>C (p.Arg1433=)
c.4305G>C (p.Arg1435=)
n.3053G>C
c.4302G>C (p.Arg1434=)
n.288G>C
n.791G>C
n.987G>C
n.582G>C
n.765G>C
c.4311G>C (p.Arg1437=)
n.621G>C
c.4161G>C (p.Arg1387=)
c.4497G>C (p.Arg1499=)
c.357G>C (p.Arg119=)
19g.13259653C>TCA505659809CACNA1Ac.4299G>A (p.Arg1433=)
c.4305G>A (p.Arg1435=)
n.3053G>A
c.4302G>A (p.Arg1434=)
n.288G>A
n.791G>A
n.987G>A
n.582G>A
n.765G>A
c.4311G>A (p.Arg1437=)
n.621G>A
c.4161G>A (p.Arg1387=)
c.4497G>A (p.Arg1499=)
c.357G>A (p.Arg119=)
 gnomAD v4
19g.13259654C>ACA404339400CACNA1Ac.4298G>T (p.Arg1433Leu)
c.4304G>T (p.Arg1435Leu)
n.3052G>T
c.4301G>T (p.Arg1434Leu)
n.287G>T
n.790G>T
n.986G>T
n.581G>T
n.764G>T
c.4310G>T (p.Arg1437Leu)
n.620G>T
c.4160G>T (p.Arg1387Leu)
c.4496G>T (p.Arg1499Leu)
c.356G>T (p.Arg119Leu)
19g.13259654C>GCA404339401CACNA1Ac.4298G>C (p.Arg1433Pro)
c.4304G>C (p.Arg1435Pro)
n.3052G>C
c.4301G>C (p.Arg1434Pro)
n.287G>C
n.790G>C
n.986G>C
n.581G>C
n.764G>C
c.4310G>C (p.Arg1437Pro)
n.620G>C
c.4160G>C (p.Arg1387Pro)
c.4496G>C (p.Arg1499Pro)
c.356G>C (p.Arg119Pro)
19g.13259654C>TCA404339402CACNA1Ac.4298G>A (p.Arg1433Gln)
c.4304G>A (p.Arg1435Gln)
n.3052G>A
c.4301G>A (p.Arg1434Gln)
n.287G>A
n.790G>A
n.986G>A
n.581G>A
n.764G>A
c.4310G>A (p.Arg1437Gln)
n.620G>A
c.4160G>A (p.Arg1387Gln)
c.4496G>A (p.Arg1499Gln)
c.356G>A (p.Arg119Gln)
 ClinVar dbSNP gnomAD v4
19g.13259655G>ACA404339403CACNA1Ac.4297C>T (p.Arg1433Trp)
c.4303C>T (p.Arg1435Trp)
n.3051C>T
c.4300C>T (p.Arg1434Trp)
n.286C>T
n.789C>T
n.985C>T
n.580C>T
n.763C>T
c.4309C>T (p.Arg1437Trp)
n.619C>T
c.4159C>T (p.Arg1387Trp)
c.4495C>T (p.Arg1499Trp)
c.355C>T (p.Arg119Trp)
 ClinVar dbSNP
19g.13259655G>CCA404339404CACNA1Ac.4297C>G (p.Arg1433Gly)
c.4303C>G (p.Arg1435Gly)
n.3051C>G
c.4300C>G (p.Arg1434Gly)
n.286C>G
n.789C>G
n.985C>G
n.580C>G
n.763C>G
c.4309C>G (p.Arg1437Gly)
n.619C>G
c.4159C>G (p.Arg1387Gly)
c.4495C>G (p.Arg1499Gly)
c.355C>G (p.Arg119Gly)
19g.13259655G=CA2323807503CACNA1Ac.4297C= (p.Arg1433=)
c.4303C= (p.Arg1435=)
n.3051C=
c.4300C= (p.Arg1434=)
n.286C=
n.789C=
n.985C=
n.580C=
n.763C=
c.4309C= (p.Arg1437=)
n.619C=
c.4159C= (p.Arg1387=)
c.4495C= (p.Arg1499=)
c.355C= (p.Arg119=)
19g.13259655G>TCA505659810CACNA1Ac.4297C>A (p.Arg1433=)
c.4303C>A (p.Arg1435=)
n.3051C>A
c.4300C>A (p.Arg1434=)
n.286C>A
n.789C>A
n.985C>A
n.580C>A
n.763C>A
c.4309C>A (p.Arg1437=)
n.619C>A
c.4159C>A (p.Arg1387=)
c.4495C>A (p.Arg1499=)
c.355C>A (p.Arg119=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259656G>ACA505659811CACNA1Ac.4296C>T (p.Asp1432=)
c.4302C>T (p.Asp1434=)
n.3050C>T
c.4299C>T (p.Asp1433=)
n.285C>T
n.788C>T
n.984C>T
n.579C>T
n.762C>T
c.4308C>T (p.Asp1436=)
n.618C>T
c.4158C>T (p.Asp1386=)
c.4494C>T (p.Asp1498=)
c.354C>T (p.Asp118=)
 dbSNP
19g.13259656G>CCA404339405CACNA1Ac.4296C>G (p.Asp1432Glu)
c.4302C>G (p.Asp1434Glu)
n.3050C>G
c.4299C>G (p.Asp1433Glu)
n.285C>G
n.788C>G
n.984C>G
n.579C>G
n.762C>G
c.4308C>G (p.Asp1436Glu)
n.618C>G
c.4158C>G (p.Asp1386Glu)
c.4494C>G (p.Asp1498Glu)
c.354C>G (p.Asp118Glu)
19g.13259656G>TCA404339406CACNA1Ac.4296C>A (p.Asp1432Glu)
c.4302C>A (p.Asp1434Glu)
n.3050C>A
c.4299C>A (p.Asp1433Glu)
n.285C>A
n.788C>A
n.984C>A
n.579C>A
n.762C>A
c.4308C>A (p.Asp1436Glu)
n.618C>A
c.4158C>A (p.Asp1386Glu)
c.4494C>A (p.Asp1498Glu)
c.354C>A (p.Asp118Glu)
19g.13259657T>ACA404339409CACNA1Ac.4295A>T (p.Asp1432Val)
c.4301A>T (p.Asp1434Val)
n.3049A>T
c.4298A>T (p.Asp1433Val)
n.284A>T
n.787A>T
n.983A>T
n.578A>T
n.761A>T
c.4307A>T (p.Asp1436Val)
n.617A>T
c.4157A>T (p.Asp1386Val)
c.4493A>T (p.Asp1498Val)
c.353A>T (p.Asp118Val)
19g.13259657T>CCA404339408CACNA1Ac.4295A>G (p.Asp1432Gly)
c.4301A>G (p.Asp1434Gly)
n.3049A>G
c.4298A>G (p.Asp1433Gly)
n.284A>G
n.787A>G
n.983A>G
n.578A>G
n.761A>G
c.4307A>G (p.Asp1436Gly)
n.617A>G
c.4157A>G (p.Asp1386Gly)
c.4493A>G (p.Asp1498Gly)
c.353A>G (p.Asp118Gly)
19g.13259657T>GCA404339407CACNA1Ac.4295A>C (p.Asp1432Ala)
c.4301A>C (p.Asp1434Ala)
n.3049A>C
c.4298A>C (p.Asp1433Ala)
n.284A>C
n.787A>C
n.983A>C
n.578A>C
n.761A>C
c.4307A>C (p.Asp1436Ala)
n.617A>C
c.4157A>C (p.Asp1386Ala)
c.4493A>C (p.Asp1498Ala)
c.353A>C (p.Asp118Ala)
19g.13259658C>ACA404339411CACNA1Ac.4294G>T (p.Asp1432Tyr)
c.4300G>T (p.Asp1434Tyr)
n.3048G>T
c.4297G>T (p.Asp1433Tyr)
n.283G>T
n.786G>T
n.982G>T
n.577G>T
n.760G>T
c.4306G>T (p.Asp1436Tyr)
n.616G>T
c.4156G>T (p.Asp1386Tyr)
c.4492G>T (p.Asp1498Tyr)
c.352G>T (p.Asp118Tyr)
19g.13259658C=CA2323807504CACNA1Ac.4294G= (p.Asp1432=)
c.4300G= (p.Asp1434=)
n.3048G=
c.4297G= (p.Asp1433=)
n.283G=
n.786G=
n.982G=
n.577G=
n.760G=
c.4306G= (p.Asp1436=)
n.616G=
c.4156G= (p.Asp1386=)
c.4492G= (p.Asp1498=)
c.352G= (p.Asp118=)
19g.13259658C>GCA404339410CACNA1Ac.4294G>C (p.Asp1432His)
c.4300G>C (p.Asp1434His)
n.3048G>C
c.4297G>C (p.Asp1433His)
n.283G>C
n.786G>C
n.982G>C
n.577G>C
n.760G>C
c.4306G>C (p.Asp1436His)
n.616G>C
c.4156G>C (p.Asp1386His)
c.4492G>C (p.Asp1498His)
c.352G>C (p.Asp118His)
 dbSNP
19g.13259658C>TCA404339412CACNA1Ac.4294G>A (p.Asp1432Asn)
c.4300G>A (p.Asp1434Asn)
n.3048G>A
c.4297G>A (p.Asp1433Asn)
n.283G>A
n.786G>A
n.982G>A
n.577G>A
n.760G>A
c.4306G>A (p.Asp1436Asn)
n.616G>A
c.4156G>A (p.Asp1386Asn)
c.4492G>A (p.Asp1498Asn)
c.352G>A (p.Asp118Asn)
 gnomAD v4
19g.13259659T>ACA505659814CACNA1Ac.4293A>T (p.Arg1431=)
c.4299A>T (p.Arg1433=)
n.3047A>T
c.4296A>T (p.Arg1432=)
n.282A>T
n.785A>T
n.981A>T
n.576A>T
n.759A>T
c.4305A>T (p.Arg1435=)
n.615A>T
c.4155A>T (p.Arg1385=)
c.4491A>T (p.Arg1497=)
c.351A>T (p.Arg117=)
19g.13259659T>CCA305539455CACNA1Ac.4293A>G (p.Arg1431=)
c.4299A>G (p.Arg1433=)
n.3047A>G
c.4296A>G (p.Arg1432=)
n.282A>G
n.785A>G
n.981A>G
n.576A>G
n.759A>G
c.4305A>G (p.Arg1435=)
n.615A>G
c.4155A>G (p.Arg1385=)
c.4491A>G (p.Arg1497=)
c.351A>G (p.Arg117=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259659T>GCA505659813CACNA1Ac.4293A>C (p.Arg1431=)
c.4299A>C (p.Arg1433=)
n.3047A>C
c.4296A>C (p.Arg1432=)
n.282A>C
n.785A>C
n.981A>C
n.576A>C
n.759A>C
c.4305A>C (p.Arg1435=)
n.615A>C
c.4155A>C (p.Arg1385=)
c.4491A>C (p.Arg1497=)
c.351A>C (p.Arg117=)
19g.13259659T=CA2323807505CACNA1Ac.4293A= (p.Arg1431=)
c.4299A= (p.Arg1433=)
n.3047A=
c.4296A= (p.Arg1432=)
n.282A=
n.785A=
n.981A=
n.576A=
n.759A=
c.4305A= (p.Arg1435=)
n.615A=
c.4155A= (p.Arg1385=)
c.4491A= (p.Arg1497=)
c.351A= (p.Arg117=)
19g.13259660C>ACA404339413CACNA1Ac.4292G>T (p.Arg1431Leu)
c.4298G>T (p.Arg1433Leu)
n.3046G>T
c.4295G>T (p.Arg1432Leu)
n.281G>T
n.784G>T
n.980G>T
n.575G>T
n.758G>T
c.4304G>T (p.Arg1435Leu)
n.614G>T
c.4154G>T (p.Arg1385Leu)
c.4490G>T (p.Arg1497Leu)
c.350G>T (p.Arg117Leu)
19g.13259660C=CA2323807506CACNA1Ac.4292G= (p.Arg1431=)
c.4298G= (p.Arg1433=)
n.3046G=
c.4295G= (p.Arg1432=)
n.281G=
n.784G=
n.980G=
n.575G=
n.758G=
c.4304G= (p.Arg1435=)
n.614G=
c.4154G= (p.Arg1385=)
c.4490G= (p.Arg1497=)
c.350G= (p.Arg117=)
19g.13259660C>GCA404339414CACNA1Ac.4292G>C (p.Arg1431Pro)
c.4298G>C (p.Arg1433Pro)
n.3046G>C
c.4295G>C (p.Arg1432Pro)
n.281G>C
n.784G>C
n.980G>C
n.575G>C
n.758G>C
c.4304G>C (p.Arg1435Pro)
n.614G>C
c.4154G>C (p.Arg1385Pro)
c.4490G>C (p.Arg1497Pro)
c.350G>C (p.Arg117Pro)
 dbSNP
19g.13259660C>TCA9240036CACNA1Ac.4292G>A (p.Arg1431Gln)
c.4298G>A (p.Arg1433Gln)
n.3046G>A
c.4295G>A (p.Arg1432Gln)
n.281G>A
n.784G>A
n.980G>A
n.575G>A
n.758G>A
c.4304G>A (p.Arg1435Gln)
n.614G>A
c.4154G>A (p.Arg1385Gln)
c.4490G>A (p.Arg1497Gln)
c.350G>A (p.Arg117Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259661G>ACA404339415CACNA1Ac.4291C>T (p.Arg1431Ter)
c.4297C>T (p.Arg1433Ter)
n.3045C>T
c.4294C>T (p.Arg1432Ter)
n.280C>T
n.783C>T
n.979C>T
n.574C>T
n.757C>T
c.4303C>T (p.Arg1435Ter)
n.613C>T
c.4153C>T (p.Arg1385Ter)
c.4489C>T (p.Arg1497Ter)
c.349C>T (p.Arg117Ter)
 ClinVar dbSNP gnomAD v4
19g.13259661G>CCA404339416CACNA1Ac.4291C>G (p.Arg1431Gly)
c.4297C>G (p.Arg1433Gly)
n.3045C>G
c.4294C>G (p.Arg1432Gly)
n.280C>G
n.783C>G
n.979C>G
n.574C>G
n.757C>G
c.4303C>G (p.Arg1435Gly)
n.613C>G
c.4153C>G (p.Arg1385Gly)
c.4489C>G (p.Arg1497Gly)
c.349C>G (p.Arg117Gly)
19g.13259661G=CA2323807507CACNA1Ac.4291C= (p.Arg1431=)
c.4297C= (p.Arg1433=)
n.3045C=
c.4294C= (p.Arg1432=)
n.280C=
n.783C=
n.979C=
n.574C=
n.757C=
c.4303C= (p.Arg1435=)
n.613C=
c.4153C= (p.Arg1385=)
c.4489C= (p.Arg1497=)
c.349C= (p.Arg117=)
19g.13259661G>TCA505659816CACNA1Ac.4291C>A (p.Arg1431=)
c.4297C>A (p.Arg1433=)
n.3045C>A
c.4294C>A (p.Arg1432=)
n.280C>A
n.783C>A
n.979C>A
n.574C>A
n.757C>A
c.4303C>A (p.Arg1435=)
n.613C>A
c.4153C>A (p.Arg1385=)
c.4489C>A (p.Arg1497=)
c.349C>A (p.Arg117=)
19g.13259662C>ACA9240038CACNA1Ac.4290G>T (p.Ala1430=)
c.4296G>T (p.Ala1432=)
n.3044G>T
c.4293G>T (p.Ala1431=)
n.279G>T
n.782G>T
n.978G>T
n.573G>T
n.756G>T
c.4302G>T (p.Ala1434=)
n.612G>T
c.4152G>T (p.Ala1384=)
c.4488G>T (p.Ala1496=)
c.348G>T (p.Ala116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259662C=CA2323807508CACNA1Ac.4290G= (p.Ala1430=)
c.4296G= (p.Ala1432=)
n.3044G=
c.4293G= (p.Ala1431=)
n.279G=
n.782G=
n.978G=
n.573G=
n.756G=
c.4302G= (p.Ala1434=)
n.612G=
c.4152G= (p.Ala1384=)
c.4488G= (p.Ala1496=)
c.348G= (p.Ala116=)
19g.13259662C>GCA505659817CACNA1Ac.4290G>C (p.Ala1430=)
c.4296G>C (p.Ala1432=)
n.3044G>C
c.4293G>C (p.Ala1431=)
n.279G>C
n.782G>C
n.978G>C
n.573G>C
n.756G>C
c.4302G>C (p.Ala1434=)
n.612G>C
c.4152G>C (p.Ala1384=)
c.4488G>C (p.Ala1496=)
c.348G>C (p.Ala116=)
 gnomAD v4
19g.13259662C>TCA9240037CACNA1Ac.4290G>A (p.Ala1430=)
c.4296G>A (p.Ala1432=)
n.3044G>A
c.4293G>A (p.Ala1431=)
n.279G>A
n.782G>A
n.978G>A
n.573G>A
n.756G>A
c.4302G>A (p.Ala1434=)
n.612G>A
c.4152G>A (p.Ala1384=)
c.4488G>A (p.Ala1496=)
c.348G>A (p.Ala116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13259663G>ACA404339417CACNA1Ac.4289C>T (p.Ala1430Val)
c.4295C>T (p.Ala1432Val)
n.3043C>T
c.4292C>T (p.Ala1431Val)
n.278C>T
n.781C>T
n.977C>T
n.572C>T
n.755C>T
c.4301C>T (p.Ala1434Val)
n.611C>T
c.4151C>T (p.Ala1384Val)
c.4487C>T (p.Ala1496Val)
c.347C>T (p.Ala116Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13259663G>CCA404339418CACNA1Ac.4289C>G (p.Ala1430Gly)
c.4295C>G (p.Ala1432Gly)
n.3043C>G
c.4292C>G (p.Ala1431Gly)
n.278C>G
n.781C>G
n.977C>G
n.572C>G
n.755C>G
c.4301C>G (p.Ala1434Gly)
n.611C>G
c.4151C>G (p.Ala1384Gly)
c.4487C>G (p.Ala1496Gly)
c.347C>G (p.Ala116Gly)
19g.13259663G=CA2323807509CACNA1Ac.4289C= (p.Ala1430=)
c.4295C= (p.Ala1432=)
n.3043C=
c.4292C= (p.Ala1431=)
n.278C=
n.781C=
n.977C=
n.572C=
n.755C=
c.4301C= (p.Ala1434=)
n.611C=
c.4151C= (p.Ala1384=)
c.4487C= (p.Ala1496=)
c.347C= (p.Ala116=)
19g.13259663G>TCA404339419CACNA1Ac.4289C>A (p.Ala1430Glu)
c.4295C>A (p.Ala1432Glu)
n.3043C>A
c.4292C>A (p.Ala1431Glu)
n.278C>A
n.781C>A
n.977C>A
n.572C>A
n.755C>A
c.4301C>A (p.Ala1434Glu)
n.611C>A
c.4151C>A (p.Ala1384Glu)
c.4487C>A (p.Ala1496Glu)
c.347C>A (p.Ala116Glu)
19g.13259664C>ACA404339420CACNA1Ac.4288G>T (p.Ala1430Ser)
c.4294G>T (p.Ala1432Ser)
n.3042G>T
c.4291G>T (p.Ala1431Ser)
n.277G>T
n.780G>T
n.976G>T
n.571G>T
n.754G>T
c.4300G>T (p.Ala1434Ser)
n.610G>T
c.4150G>T (p.Ala1384Ser)
c.4486G>T (p.Ala1496Ser)
c.346G>T (p.Ala116Ser)
 gnomAD v4
19g.13259664C=CA2323807510CACNA1Ac.4288G= (p.Ala1430=)
c.4294G= (p.Ala1432=)
n.3042G=
c.4291G= (p.Ala1431=)
n.277G=
n.780G=
n.976G=
n.571G=
n.754G=
c.4300G= (p.Ala1434=)
n.610G=
c.4150G= (p.Ala1384=)
c.4486G= (p.Ala1496=)
c.346G= (p.Ala116=)
19g.13259664C>GCA404339421CACNA1Ac.4288G>C (p.Ala1430Pro)
c.4294G>C (p.Ala1432Pro)
n.3042G>C
c.4291G>C (p.Ala1431Pro)
n.277G>C
n.780G>C
n.976G>C
n.571G>C
n.754G>C
c.4300G>C (p.Ala1434Pro)
n.610G>C
c.4150G>C (p.Ala1384Pro)
c.4486G>C (p.Ala1496Pro)
c.346G>C (p.Ala116Pro)
19g.13259664C>TCA404339422CACNA1Ac.4288G>A (p.Ala1430Thr)
c.4294G>A (p.Ala1432Thr)
n.3042G>A
c.4291G>A (p.Ala1431Thr)
n.277G>A
n.780G>A
n.976G>A
n.571G>A
n.754G>A
c.4300G>A (p.Ala1434Thr)
n.610G>A
c.4150G>A (p.Ala1384Thr)
c.4486G>A (p.Ala1496Thr)
c.346G>A (p.Ala116Thr)
 dbSNP COSMIC COSMIC COSMIC COSMIC
19g.13259665C>ACA404339423CACNA1Ac.4287G>T (p.Lys1429Asn)
c.4293G>T (p.Lys1431Asn)
n.3041G>T
c.4290G>T (p.Lys1430Asn)
n.276G>T
n.779G>T
n.975G>T
n.570G>T
n.753G>T
c.4299G>T (p.Lys1433Asn)
n.609G>T
c.4149G>T (p.Lys1383Asn)
c.4485G>T (p.Lys1495Asn)
c.345G>T (p.Lys115Asn)
19g.13259665C>GCA404339424CACNA1Ac.4287G>C (p.Lys1429Asn)
c.4293G>C (p.Lys1431Asn)
n.3041G>C
c.4290G>C (p.Lys1430Asn)
n.276G>C
n.779G>C
n.975G>C
n.570G>C
n.753G>C
c.4299G>C (p.Lys1433Asn)
n.609G>C
c.4149G>C (p.Lys1383Asn)
c.4485G>C (p.Lys1495Asn)
c.345G>C (p.Lys115Asn)
19g.13259665C>TCA505659821CACNA1Ac.4287G>A (p.Lys1429=)
c.4293G>A (p.Lys1431=)
n.3041G>A
c.4290G>A (p.Lys1430=)
n.276G>A
n.779G>A
n.975G>A
n.570G>A
n.753G>A
c.4299G>A (p.Lys1433=)
n.609G>A
c.4149G>A (p.Lys1383=)
c.4485G>A (p.Lys1495=)
c.345G>A (p.Lys115=)
 gnomAD v4
19g.13259666T>ACA404339425CACNA1Ac.4286A>T (p.Lys1429Met)
c.4292A>T (p.Lys1431Met)
n.3040A>T
c.4289A>T (p.Lys1430Met)
n.275A>T
n.778A>T
n.974A>T
n.569A>T
n.752A>T
c.4298A>T (p.Lys1433Met)
n.608A>T
c.4148A>T (p.Lys1383Met)
c.4484A>T (p.Lys1495Met)
c.344A>T (p.Lys115Met)
19g.13259666T>CCA404339426CACNA1Ac.4286A>G (p.Lys1429Arg)
c.4292A>G (p.Lys1431Arg)
n.3040A>G
c.4289A>G (p.Lys1430Arg)
n.275A>G
n.778A>G
n.974A>G
n.569A>G
n.752A>G
c.4298A>G (p.Lys1433Arg)
n.608A>G
c.4148A>G (p.Lys1383Arg)
c.4484A>G (p.Lys1495Arg)
c.344A>G (p.Lys115Arg)
 gnomAD v4
19g.13259666T>GCA404339427CACNA1Ac.4286A>C (p.Lys1429Thr)
c.4292A>C (p.Lys1431Thr)
n.3040A>C
c.4289A>C (p.Lys1430Thr)
n.275A>C
n.778A>C
n.974A>C
n.569A>C
n.752A>C
c.4298A>C (p.Lys1433Thr)
n.608A>C
c.4148A>C (p.Lys1383Thr)
c.4484A>C (p.Lys1495Thr)
c.344A>C (p.Lys115Thr)
19g.13259667T>ACA404339428CACNA1Ac.4285A>T (p.Lys1429Ter)
c.4291A>T (p.Lys1431Ter)
n.3039A>T
c.4288A>T (p.Lys1430Ter)
n.274A>T
n.777A>T
n.973A>T
n.568A>T
n.751A>T
c.4297A>T (p.Lys1433Ter)
n.607A>T
c.4147A>T (p.Lys1383Ter)
c.4483A>T (p.Lys1495Ter)
c.343A>T (p.Lys115Ter)
19g.13259667T>CCA404339429CACNA1Ac.4285A>G (p.Lys1429Glu)
c.4291A>G (p.Lys1431Glu)
n.3039A>G
c.4288A>G (p.Lys1430Glu)
n.274A>G
n.777A>G
n.973A>G
n.568A>G
n.751A>G
c.4297A>G (p.Lys1433Glu)
n.607A>G
c.4147A>G (p.Lys1383Glu)
c.4483A>G (p.Lys1495Glu)
c.343A>G (p.Lys115Glu)
19g.13259667T>GCA404339430CACNA1Ac.4285A>C (p.Lys1429Gln)
c.4291A>C (p.Lys1431Gln)
n.3039A>C
c.4288A>C (p.Lys1430Gln)
n.274A>C
n.777A>C
n.973A>C
n.568A>C
n.751A>C
c.4297A>C (p.Lys1433Gln)
n.607A>C
c.4147A>C (p.Lys1383Gln)
c.4483A>C (p.Lys1495Gln)
c.343A>C (p.Lys115Gln)
19g.13259668C>ACA505659822CACNA1Ac.4284G>T (p.Val1428=)
c.4290G>T (p.Val1430=)
n.3038G>T
c.4287G>T (p.Val1429=)
n.273G>T
n.776G>T
n.972G>T
n.567G>T
n.750G>T
c.4296G>T (p.Val1432=)
n.606G>T
c.4146G>T (p.Val1382=)
c.4482G>T (p.Val1494=)
c.342G>T (p.Val114=)
19g.13259668C>GCA505659823CACNA1Ac.4284G>C (p.Val1428=)
c.4290G>C (p.Val1430=)
n.3038G>C
c.4287G>C (p.Val1429=)
n.273G>C
n.776G>C
n.972G>C
n.567G>C
n.750G>C
c.4296G>C (p.Val1432=)
n.606G>C
c.4146G>C (p.Val1382=)
c.4482G>C (p.Val1494=)
c.342G>C (p.Val114=)
19g.13259668C>TCA505659824CACNA1Ac.4284G>A (p.Val1428=)
c.4290G>A (p.Val1430=)
n.3038G>A
c.4287G>A (p.Val1429=)
n.273G>A
n.776G>A
n.972G>A
n.567G>A
n.750G>A
c.4296G>A (p.Val1432=)
n.606G>A
c.4146G>A (p.Val1382=)
c.4482G>A (p.Val1494=)
c.342G>A (p.Val114=)
19g.13259669A>CCA404339431CACNA1Ac.4283T>G (p.Val1428Gly)
c.4289T>G (p.Val1430Gly)
n.3037T>G
c.4286T>G (p.Val1429Gly)
n.272T>G
n.775T>G
n.971T>G
n.566T>G
n.749T>G
c.4295T>G (p.Val1432Gly)
n.605T>G
c.4145T>G (p.Val1382Gly)
c.4481T>G (p.Val1494Gly)
c.341T>G (p.Val114Gly)
19g.13259669A>GCA404339432CACNA1Ac.4283T>C (p.Val1428Ala)
c.4289T>C (p.Val1430Ala)
n.3037T>C
c.4286T>C (p.Val1429Ala)
n.272T>C
n.775T>C
n.971T>C
n.566T>C
n.749T>C
c.4295T>C (p.Val1432Ala)
n.605T>C
c.4145T>C (p.Val1382Ala)
c.4481T>C (p.Val1494Ala)
c.341T>C (p.Val114Ala)
19g.13259669A>TCA404339433CACNA1Ac.4283T>A (p.Val1428Glu)
c.4289T>A (p.Val1430Glu)
n.3037T>A
c.4286T>A (p.Val1429Glu)
n.272T>A
n.775T>A
n.971T>A
n.566T>A
n.749T>A
c.4295T>A (p.Val1432Glu)
n.605T>A
c.4145T>A (p.Val1382Glu)
c.4481T>A (p.Val1494Glu)
c.341T>A (p.Val114Glu)
19g.13259670C>ACA404339434CACNA1Ac.4282G>T (p.Val1428Leu)
c.4288G>T (p.Val1430Leu)
n.3036G>T
c.4285G>T (p.Val1429Leu)
n.271G>T
n.774G>T
n.970G>T
n.565G>T
n.748G>T
c.4294G>T (p.Val1432Leu)
n.604G>T
c.4144G>T (p.Val1382Leu)
c.4480G>T (p.Val1494Leu)
c.340G>T (p.Val114Leu)
19g.13259670C>GCA404339435CACNA1Ac.4282G>C (p.Val1428Leu)
c.4288G>C (p.Val1430Leu)
n.3036G>C
c.4285G>C (p.Val1429Leu)
n.271G>C
n.774G>C
n.970G>C
n.565G>C
n.748G>C
c.4294G>C (p.Val1432Leu)
n.604G>C
c.4144G>C (p.Val1382Leu)
c.4480G>C (p.Val1494Leu)
c.340G>C (p.Val114Leu)
19g.13259670C>TCA404339436CACNA1Ac.4282G>A (p.Val1428Met)
c.4288G>A (p.Val1430Met)
n.3036G>A
c.4285G>A (p.Val1429Met)
n.271G>A
n.774G>A
n.970G>A
n.565G>A
n.748G>A
c.4294G>A (p.Val1432Met)
n.604G>A
c.4144G>A (p.Val1382Met)
c.4480G>A (p.Val1494Met)
c.340G>A (p.Val114Met)
19g.13259671C>ACA16620784CACNA1Ac.4281G>T (p.Glu1427Asp)
c.4287G>T (p.Glu1429Asp)
n.3035G>T
c.4284G>T (p.Glu1428Asp)
n.270G>T
n.773G>T
n.969G>T
n.564G>T
n.747G>T
c.4293G>T (p.Glu1431Asp)
n.603G>T
c.4143G>T (p.Glu1381Asp)
c.4479G>T (p.Glu1493Asp)
c.339G>T (p.Glu113Asp)
 ClinVar dbSNP gnomAD v4
19g.13259671C=CA2323807511CACNA1Ac.4281G= (p.Glu1427=)
c.4287G= (p.Glu1429=)
n.3035G=
c.4284G= (p.Glu1428=)
n.270G=
n.773G=
n.969G=
n.564G=
n.747G=
c.4293G= (p.Glu1431=)
n.603G=
c.4143G= (p.Glu1381=)
c.4479G= (p.Glu1493=)
c.339G= (p.Glu113=)
19g.13259671C>GCA9240039CACNA1Ac.4281G>C (p.Glu1427Asp)
c.4287G>C (p.Glu1429Asp)
n.3035G>C
c.4284G>C (p.Glu1428Asp)
n.270G>C
n.773G>C
n.969G>C
n.564G>C
n.747G>C
c.4293G>C (p.Glu1431Asp)
n.603G>C
c.4143G>C (p.Glu1381Asp)
c.4479G>C (p.Glu1493Asp)
c.339G>C (p.Glu113Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13259671C>TCA505659826CACNA1Ac.4281G>A (p.Glu1427=)
c.4287G>A (p.Glu1429=)
n.3035G>A
c.4284G>A (p.Glu1428=)
n.270G>A
n.773G>A
n.969G>A
n.564G>A
n.747G>A
c.4293G>A (p.Glu1431=)
n.603G>A
c.4143G>A (p.Glu1381=)
c.4479G>A (p.Glu1493=)
c.339G>A (p.Glu113=)
 dbSNP
19g.13259672T>ACA404339437CACNA1Ac.4280A>T (p.Glu1427Val)
c.4286A>T (p.Glu1429Val)
n.3034A>T
c.4283A>T (p.Glu1428Val)
n.269A>T
n.772A>T
n.968A>T
n.563A>T
n.746A>T
c.4292A>T (p.Glu1431Val)
n.602A>T
c.4142A>T (p.Glu1381Val)
c.4478A>T (p.Glu1493Val)
c.338A>T (p.Glu113Val)
19g.13259672T>CCA404339438CACNA1Ac.4280A>G (p.Glu1427Gly)
c.4286A>G (p.Glu1429Gly)
n.3034A>G
c.4283A>G (p.Glu1428Gly)
n.269A>G
n.772A>G
n.968A>G
n.563A>G
n.746A>G
c.4292A>G (p.Glu1431Gly)
n.602A>G
c.4142A>G (p.Glu1381Gly)
c.4478A>G (p.Glu1493Gly)
c.338A>G (p.Glu113Gly)
19g.13259672T>GCA404339439CACNA1Ac.4280A>C (p.Glu1427Ala)
c.4286A>C (p.Glu1429Ala)
n.3034A>C
c.4283A>C (p.Glu1428Ala)
n.269A>C
n.772A>C
n.968A>C
n.563A>C
n.746A>C
c.4292A>C (p.Glu1431Ala)
n.602A>C
c.4142A>C (p.Glu1381Ala)
c.4478A>C (p.Glu1493Ala)
c.338A>C (p.Glu113Ala)
19g.13259673C>ACA404339440CACNA1Ac.4279G>T (p.Glu1427Ter)
c.4285G>T (p.Glu1429Ter)
n.3033G>T
c.4282G>T (p.Glu1428Ter)
n.268G>T
n.771G>T
n.967G>T
n.562G>T
n.745G>T
c.4291G>T (p.Glu1431Ter)
n.601G>T
c.4141G>T (p.Glu1381Ter)
c.4477G>T (p.Glu1493Ter)
c.337G>T (p.Glu113Ter)
19g.13259673C>GCA404339441CACNA1Ac.4279G>C (p.Glu1427Gln)
c.4285G>C (p.Glu1429Gln)
n.3033G>C
c.4282G>C (p.Glu1428Gln)
n.268G>C
n.771G>C
n.967G>C
n.562G>C
n.745G>C
c.4291G>C (p.Glu1431Gln)
n.601G>C
c.4141G>C (p.Glu1381Gln)
c.4477G>C (p.Glu1493Gln)
c.337G>C (p.Glu113Gln)
19g.13259673C>TCA404339442CACNA1Ac.4279G>A (p.Glu1427Lys)
c.4285G>A (p.Glu1429Lys)
n.3033G>A
c.4282G>A (p.Glu1428Lys)
n.268G>A
n.771G>A
n.967G>A
n.562G>A
n.745G>A
c.4291G>A (p.Glu1431Lys)
n.601G>A
c.4141G>A (p.Glu1381Lys)
c.4477G>A (p.Glu1493Lys)
c.337G>A (p.Glu113Lys)
19g.13259674A>CCA404339443CACNA1Ac.4278T>G (p.Asn1426Lys)
c.4284T>G (p.Asn1428Lys)
n.3032T>G
c.4281T>G (p.Asn1427Lys)
n.267T>G
n.770T>G
n.966T>G
n.561T>G
n.744T>G
c.4290T>G (p.Asn1430Lys)
n.600T>G
c.4140T>G (p.Asn1380Lys)
c.4476T>G (p.Asn1492Lys)
c.336T>G (p.Asn112Lys)
 gnomAD v4
19g.13259674A>GCA505659828CACNA1Ac.4278T>C (p.Asn1426=)
c.4284T>C (p.Asn1428=)
n.3032T>C
c.4281T>C (p.Asn1427=)
n.267T>C
n.770T>C
n.966T>C
n.561T>C
n.744T>C
c.4290T>C (p.Asn1430=)
n.600T>C
c.4140T>C (p.Asn1380=)
c.4476T>C (p.Asn1492=)
c.336T>C (p.Asn112=)
 ClinVar
19g.13259674A>TCA404339444CACNA1Ac.4278T>A (p.Asn1426Lys)
c.4284T>A (p.Asn1428Lys)
n.3032T>A
c.4281T>A (p.Asn1427Lys)
n.267T>A
n.770T>A
n.966T>A
n.561T>A
n.744T>A
c.4290T>A (p.Asn1430Lys)
n.600T>A
c.4140T>A (p.Asn1380Lys)
c.4476T>A (p.Asn1492Lys)
c.336T>A (p.Asn112Lys)
19g.13259675T>ACA404339445CACNA1Ac.4277A>T (p.Asn1426Ile)
c.4283A>T (p.Asn1428Ile)
n.3031A>T
c.4280A>T (p.Asn1427Ile)
n.266A>T
n.769A>T
n.965A>T
n.560A>T
n.743A>T
c.4289A>T (p.Asn1430Ile)
n.599A>T
c.4139A>T (p.Asn1380Ile)
c.4475A>T (p.Asn1492Ile)
c.335A>T (p.Asn112Ile)
19g.13259675T>CCA404339446CACNA1Ac.4277A>G (p.Asn1426Ser)
c.4283A>G (p.Asn1428Ser)
n.3031A>G
c.4280A>G (p.Asn1427Ser)
n.266A>G
n.769A>G
n.965A>G
n.560A>G
n.743A>G
c.4289A>G (p.Asn1430Ser)
n.599A>G
c.4139A>G (p.Asn1380Ser)
c.4475A>G (p.Asn1492Ser)
c.335A>G (p.Asn112Ser)
 gnomAD v4
19g.13259675T>GCA404339447CACNA1Ac.4277A>C (p.Asn1426Thr)
c.4283A>C (p.Asn1428Thr)
n.3031A>C
c.4280A>C (p.Asn1427Thr)
n.266A>C
n.769A>C
n.965A>C
n.560A>C
n.743A>C
c.4289A>C (p.Asn1430Thr)
n.599A>C
c.4139A>C (p.Asn1380Thr)
c.4475A>C (p.Asn1492Thr)
c.335A>C (p.Asn112Thr)
19g.13259676T>ACA404339448CACNA1Ac.4276A>T (p.Asn1426Tyr)
c.4282A>T (p.Asn1428Tyr)
n.3030A>T
c.4279A>T (p.Asn1427Tyr)
n.265A>T
n.768A>T
n.964A>T
n.559A>T
n.742A>T
c.4288A>T (p.Asn1430Tyr)
n.598A>T
c.4138A>T (p.Asn1380Tyr)
c.4474A>T (p.Asn1492Tyr)
c.334A>T (p.Asn112Tyr)
19g.13259676T>CCA305539496CACNA1Ac.4276A>G (p.Asn1426Asp)
c.4282A>G (p.Asn1428Asp)
n.3030A>G
c.4279A>G (p.Asn1427Asp)
n.265A>G
n.768A>G
n.964A>G
n.559A>G
n.742A>G
c.4288A>G (p.Asn1430Asp)
n.598A>G
c.4138A>G (p.Asn1380Asp)
c.4474A>G (p.Asn1492Asp)
c.334A>G (p.Asn112Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13259676T>GCA404339449CACNA1Ac.4276A>C (p.Asn1426His)
c.4282A>C (p.Asn1428His)
n.3030A>C
c.4279A>C (p.Asn1427His)
n.265A>C
n.768A>C
n.964A>C
n.559A>C
n.742A>C
c.4288A>C (p.Asn1430His)
n.598A>C
c.4138A>C (p.Asn1380His)
c.4474A>C (p.Asn1492His)
c.334A>C (p.Asn112His)
19g.13259676T=CA2323807512CACNA1Ac.4276A= (p.Asn1426=)
c.4282A= (p.Asn1428=)
n.3030A=
c.4279A= (p.Asn1427=)
n.265A=
n.768A=
n.964A=
n.559A=
n.742A=
c.4288A= (p.Asn1430=)
n.598A=
c.4138A= (p.Asn1380=)
c.4474A= (p.Asn1492=)
c.334A= (p.Asn112=)

Number of alleles fetched