Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13235702C>ACA404337004CACNA1Ac.4979G>T (p.Arg1660Leu)
c.4985G>T (p.Arg1662Leu)
c.398G>T
n.203G>T
c.140G>T (p.Arg47Leu)
n.184G>T
c.4982G>T (p.Arg1661Leu)
n.968G>T
c.294G>T
c.4988G>T (p.Arg1663Leu)
c.275G>T (p.Arg92Leu)
c.4997G>T (p.Arg1666Leu)
c.4841G>T (p.Arg1614Leu)
c.239G>T
n.372G>T
c.383G>T (p.Arg128Leu)
c.5183G>T (p.Arg1728Leu)
c.1037G>T (p.Arg346Leu)
c.440G>T (p.Arg147Leu)
19g.13235702C=CA2323795785CACNA1Ac.4979G= (p.Arg1660=)
c.4985G= (p.Arg1662=)
c.398G=
n.203G=
c.140G= (p.Arg47=)
n.184G=
c.4982G= (p.Arg1661=)
n.968G=
c.294G=
c.4988G= (p.Arg1663=)
c.275G= (p.Arg92=)
c.4997G= (p.Arg1666=)
c.4841G= (p.Arg1614=)
c.239G=
n.372G=
c.383G= (p.Arg128=)
c.5183G= (p.Arg1728=)
c.1037G= (p.Arg346=)
c.440G= (p.Arg147=)
19g.13235702C>GCA404337007CACNA1Ac.4979G>C (p.Arg1660Pro)
c.4985G>C (p.Arg1662Pro)
c.398G>C
n.203G>C
c.140G>C (p.Arg47Pro)
n.184G>C
c.4982G>C (p.Arg1661Pro)
n.968G>C
c.294G>C
c.4988G>C (p.Arg1663Pro)
c.275G>C (p.Arg92Pro)
c.4997G>C (p.Arg1666Pro)
c.4841G>C (p.Arg1614Pro)
c.239G>C
n.372G>C
c.383G>C (p.Arg128Pro)
c.5183G>C (p.Arg1728Pro)
c.1037G>C (p.Arg346Pro)
c.440G>C (p.Arg147Pro)
19g.13235702C>TCA254430CACNA1Ac.4979G>A (p.Arg1660His)
c.4985G>A (p.Arg1662His)
c.398G>A
n.203G>A
c.140G>A (p.Arg47His)
n.184G>A
c.4982G>A (p.Arg1661His)
n.968G>A
c.294G>A
c.4988G>A (p.Arg1663His)
c.275G>A (p.Arg92His)
c.4997G>A (p.Arg1666His)
c.4841G>A (p.Arg1614His)
c.239G>A
n.372G>A
c.383G>A (p.Arg128His)
c.5183G>A (p.Arg1728His)
c.1037G>A (p.Arg346His)
c.440G>A (p.Arg147His)
 ClinVar dbSNP gnomAD v4
19g.13235703G>ACA9239858CACNA1Ac.4978C>T (p.Arg1660Cys)
c.4984C>T (p.Arg1662Cys)
c.397C>T
n.202C>T
c.139C>T (p.Arg47Cys)
n.183C>T
c.4981C>T (p.Arg1661Cys)
n.967C>T
c.293C>T
c.4987C>T (p.Arg1663Cys)
c.274C>T (p.Arg92Cys)
c.4996C>T (p.Arg1666Cys)
c.4840C>T (p.Arg1614Cys)
c.238C>T
n.371C>T
c.382C>T (p.Arg128Cys)
c.5182C>T (p.Arg1728Cys)
c.1036C>T (p.Arg346Cys)
c.439C>T (p.Arg147Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13235703G>CCA404337014CACNA1Ac.4978C>G (p.Arg1660Gly)
c.4984C>G (p.Arg1662Gly)
c.397C>G
n.202C>G
c.139C>G (p.Arg47Gly)
n.183C>G
c.4981C>G (p.Arg1661Gly)
n.967C>G
c.293C>G
c.4987C>G (p.Arg1663Gly)
c.274C>G (p.Arg92Gly)
c.4996C>G (p.Arg1666Gly)
c.4840C>G (p.Arg1614Gly)
c.238C>G
n.371C>G
c.382C>G (p.Arg128Gly)
c.5182C>G (p.Arg1728Gly)
c.1036C>G (p.Arg346Gly)
c.439C>G (p.Arg147Gly)
19g.13235703G=CA2323795786CACNA1Ac.4978C= (p.Arg1660=)
c.4984C= (p.Arg1662=)
c.397C=
n.202C=
c.139C= (p.Arg47=)
n.183C=
c.4981C= (p.Arg1661=)
n.967C=
c.293C=
c.4987C= (p.Arg1663=)
c.274C= (p.Arg92=)
c.4996C= (p.Arg1666=)
c.4840C= (p.Arg1614=)
c.238C=
n.371C=
c.382C= (p.Arg128=)
c.5182C= (p.Arg1728=)
c.1036C= (p.Arg346=)
c.439C= (p.Arg147=)
19g.13235703G>TCA404337016CACNA1Ac.4978C>A (p.Arg1660Ser)
c.4984C>A (p.Arg1662Ser)
c.397C>A
n.202C>A
c.139C>A (p.Arg47Ser)
n.183C>A
c.4981C>A (p.Arg1661Ser)
n.967C>A
c.293C>A
c.4987C>A (p.Arg1663Ser)
c.274C>A (p.Arg92Ser)
c.4996C>A (p.Arg1666Ser)
c.4840C>A (p.Arg1614Ser)
c.238C>A
n.371C>A
c.382C>A (p.Arg128Ser)
c.5182C>A (p.Arg1728Ser)
c.1036C>A (p.Arg346Ser)
c.439C>A (p.Arg147Ser)
19g.13235704G>ACA505658816CACNA1Ac.4977C>T (p.Leu1659=)
c.4983C>T (p.Leu1661=)
c.396C>T
n.201C>T
c.138C>T (p.Leu46=)
n.182C>T
c.4980C>T (p.Leu1660=)
n.966C>T
c.292C>T
c.4986C>T (p.Leu1662=)
c.273C>T (p.Leu91=)
c.4995C>T (p.Leu1665=)
c.4839C>T (p.Leu1613=)
c.237C>T
n.370C>T
c.381C>T (p.Leu127=)
c.5181C>T (p.Leu1727=)
c.1035C>T (p.Leu345=)
c.438C>T (p.Leu146=)
19g.13235704G>CCA505658817CACNA1Ac.4977C>G (p.Leu1659=)
c.4983C>G (p.Leu1661=)
c.396C>G
n.201C>G
c.138C>G (p.Leu46=)
n.182C>G
c.4980C>G (p.Leu1660=)
n.966C>G
c.292C>G
c.4986C>G (p.Leu1662=)
c.273C>G (p.Leu91=)
c.4995C>G (p.Leu1665=)
c.4839C>G (p.Leu1613=)
c.237C>G
n.370C>G
c.381C>G (p.Leu127=)
c.5181C>G (p.Leu1727=)
c.1035C>G (p.Leu345=)
c.438C>G (p.Leu146=)
19g.13235704G>TCA505658818CACNA1Ac.4977C>A (p.Leu1659=)
c.4983C>A (p.Leu1661=)
c.396C>A
n.201C>A
c.138C>A (p.Leu46=)
n.182C>A
c.4980C>A (p.Leu1660=)
n.966C>A
c.292C>A
c.4986C>A (p.Leu1662=)
c.273C>A (p.Leu91=)
c.4995C>A (p.Leu1665=)
c.4839C>A (p.Leu1613=)
c.237C>A
n.370C>A
c.381C>A (p.Leu127=)
c.5181C>A (p.Leu1727=)
c.1035C>A (p.Leu345=)
c.438C>A (p.Leu146=)
19g.13235705A>CCA404337025CACNA1Ac.4976T>G (p.Leu1659Arg)
c.4982T>G (p.Leu1661Arg)
c.395T>G
n.200T>G
c.137T>G (p.Leu46Arg)
n.181T>G
c.4979T>G (p.Leu1660Arg)
n.965T>G
c.291T>G
c.4985T>G (p.Leu1662Arg)
c.272T>G (p.Leu91Arg)
c.4994T>G (p.Leu1665Arg)
c.4838T>G (p.Leu1613Arg)
c.236T>G
n.369T>G
c.380T>G (p.Leu127Arg)
c.5180T>G (p.Leu1727Arg)
c.1034T>G (p.Leu345Arg)
c.437T>G (p.Leu146Arg)
19g.13235705A>GCA404337028CACNA1Ac.4976T>C (p.Leu1659Pro)
c.4982T>C (p.Leu1661Pro)
c.395T>C
n.200T>C
c.137T>C (p.Leu46Pro)
n.181T>C
c.4979T>C (p.Leu1660Pro)
n.965T>C
c.291T>C
c.4985T>C (p.Leu1662Pro)
c.272T>C (p.Leu91Pro)
c.4994T>C (p.Leu1665Pro)
c.4838T>C (p.Leu1613Pro)
c.236T>C
n.369T>C
c.380T>C (p.Leu127Pro)
c.5180T>C (p.Leu1727Pro)
c.1034T>C (p.Leu345Pro)
c.437T>C (p.Leu146Pro)
19g.13235705A>TCA404337031CACNA1Ac.4976T>A (p.Leu1659His)
c.4982T>A (p.Leu1661His)
c.395T>A
n.200T>A
c.137T>A (p.Leu46His)
n.181T>A
c.4979T>A (p.Leu1660His)
n.965T>A
c.291T>A
c.4985T>A (p.Leu1662His)
c.272T>A (p.Leu91His)
c.4994T>A (p.Leu1665His)
c.4838T>A (p.Leu1613His)
c.236T>A
n.369T>A
c.380T>A (p.Leu127His)
c.5180T>A (p.Leu1727His)
c.1034T>A (p.Leu345His)
c.437T>A (p.Leu146His)
19g.13235706G>ACA404337034CACNA1Ac.4975C>T (p.Leu1659Phe)
c.4981C>T (p.Leu1661Phe)
c.394C>T
n.199C>T
c.136C>T (p.Leu46Phe)
n.180C>T
c.4978C>T (p.Leu1660Phe)
n.964C>T
c.290C>T
c.4984C>T (p.Leu1662Phe)
c.271C>T (p.Leu91Phe)
c.4993C>T (p.Leu1665Phe)
c.4837C>T (p.Leu1613Phe)
c.235C>T
n.368C>T
c.379C>T (p.Leu127Phe)
c.5179C>T (p.Leu1727Phe)
c.1033C>T (p.Leu345Phe)
c.436C>T (p.Leu146Phe)
 ClinVar dbSNP
19g.13235706G>CCA404337039CACNA1Ac.4975C>G (p.Leu1659Val)
c.4981C>G (p.Leu1661Val)
c.394C>G
n.199C>G
c.136C>G (p.Leu46Val)
n.180C>G
c.4978C>G (p.Leu1660Val)
n.964C>G
c.290C>G
c.4984C>G (p.Leu1662Val)
c.271C>G (p.Leu91Val)
c.4993C>G (p.Leu1665Val)
c.4837C>G (p.Leu1613Val)
c.235C>G
n.368C>G
c.379C>G (p.Leu127Val)
c.5179C>G (p.Leu1727Val)
c.1033C>G (p.Leu345Val)
c.436C>G (p.Leu146Val)
19g.13235706G>TCA404337038CACNA1Ac.4975C>A (p.Leu1659Ile)
c.4981C>A (p.Leu1661Ile)
c.394C>A
n.199C>A
c.136C>A (p.Leu46Ile)
n.180C>A
c.4978C>A (p.Leu1660Ile)
n.964C>A
c.290C>A
c.4984C>A (p.Leu1662Ile)
c.271C>A (p.Leu91Ile)
c.4993C>A (p.Leu1665Ile)
c.4837C>A (p.Leu1613Ile)
c.235C>A
n.368C>A
c.379C>A (p.Leu127Ile)
c.5179C>A (p.Leu1727Ile)
c.1033C>A (p.Leu345Ile)
c.436C>A (p.Leu146Ile)
19g.13235707A>CCA404337042CACNA1Ac.4974T>G (p.Phe1658Leu)
c.4980T>G (p.Phe1660Leu)
c.393T>G
n.198T>G
c.135T>G (p.Phe45Leu)
n.179T>G
c.4977T>G (p.Phe1659Leu)
n.963T>G
c.289T>G
c.4983T>G (p.Phe1661Leu)
c.270T>G (p.Phe90Leu)
c.4992T>G (p.Phe1664Leu)
c.4836T>G (p.Phe1612Leu)
c.234T>G
n.367T>G
c.378T>G (p.Phe126Leu)
c.5178T>G (p.Phe1726Leu)
c.1032T>G (p.Phe344Leu)
c.435T>G (p.Phe145Leu)
19g.13235707A>GCA505658819CACNA1Ac.4974T>C (p.Phe1658=)
c.4980T>C (p.Phe1660=)
c.393T>C
n.198T>C
c.135T>C (p.Phe45=)
n.179T>C
c.4977T>C (p.Phe1659=)
n.963T>C
c.289T>C
c.4983T>C (p.Phe1661=)
c.270T>C (p.Phe90=)
c.4992T>C (p.Phe1664=)
c.4836T>C (p.Phe1612=)
c.234T>C
n.367T>C
c.378T>C (p.Phe126=)
c.5178T>C (p.Phe1726=)
c.1032T>C (p.Phe344=)
c.435T>C (p.Phe145=)
 gnomAD v4
19g.13235707A>TCA404337043CACNA1Ac.4974T>A (p.Phe1658Leu)
c.4980T>A (p.Phe1660Leu)
c.393T>A
n.198T>A
c.135T>A (p.Phe45Leu)
n.179T>A
c.4977T>A (p.Phe1659Leu)
n.963T>A
c.289T>A
c.4983T>A (p.Phe1661Leu)
c.270T>A (p.Phe90Leu)
c.4992T>A (p.Phe1664Leu)
c.4836T>A (p.Phe1612Leu)
c.234T>A
n.367T>A
c.378T>A (p.Phe126Leu)
c.5178T>A (p.Phe1726Leu)
c.1032T>A (p.Phe344Leu)
c.435T>A (p.Phe145Leu)
19g.13235708A>CCA404337046CACNA1Ac.4973T>G (p.Phe1658Cys)
c.4979T>G (p.Phe1660Cys)
c.392T>G
n.197T>G
c.134T>G (p.Phe45Cys)
n.178T>G
c.4976T>G (p.Phe1659Cys)
n.962T>G
c.288T>G
c.4982T>G (p.Phe1661Cys)
c.269T>G (p.Phe90Cys)
c.4991T>G (p.Phe1664Cys)
c.4835T>G (p.Phe1612Cys)
c.233T>G
n.366T>G
c.377T>G (p.Phe126Cys)
c.5177T>G (p.Phe1726Cys)
c.1031T>G (p.Phe344Cys)
c.434T>G (p.Phe145Cys)
19g.13235708A>GCA404337050CACNA1Ac.4973T>C (p.Phe1658Ser)
c.4979T>C (p.Phe1660Ser)
c.392T>C
n.197T>C
c.134T>C (p.Phe45Ser)
n.178T>C
c.4976T>C (p.Phe1659Ser)
n.962T>C
c.288T>C
c.4982T>C (p.Phe1661Ser)
c.269T>C (p.Phe90Ser)
c.4991T>C (p.Phe1664Ser)
c.4835T>C (p.Phe1612Ser)
c.233T>C
n.366T>C
c.377T>C (p.Phe126Ser)
c.5177T>C (p.Phe1726Ser)
c.1031T>C (p.Phe344Ser)
c.434T>C (p.Phe145Ser)
19g.13235708A>TCA404337054CACNA1Ac.4973T>A (p.Phe1658Tyr)
c.4979T>A (p.Phe1660Tyr)
c.392T>A
n.197T>A
c.134T>A (p.Phe45Tyr)
n.178T>A
c.4976T>A (p.Phe1659Tyr)
n.962T>A
c.288T>A
c.4982T>A (p.Phe1661Tyr)
c.269T>A (p.Phe90Tyr)
c.4991T>A (p.Phe1664Tyr)
c.4835T>A (p.Phe1612Tyr)
c.233T>A
n.366T>A
c.377T>A (p.Phe126Tyr)
c.5177T>A (p.Phe1726Tyr)
c.1031T>A (p.Phe344Tyr)
c.434T>A (p.Phe145Tyr)
19g.13235709A>CCA404337058CACNA1Ac.4972T>G (p.Phe1658Val)
c.4978T>G (p.Phe1660Val)
c.391T>G
n.196T>G
c.133T>G (p.Phe45Val)
n.177T>G
c.4975T>G (p.Phe1659Val)
n.961T>G
c.287T>G
c.4981T>G (p.Phe1661Val)
c.268T>G (p.Phe90Val)
c.4990T>G (p.Phe1664Val)
c.4834T>G (p.Phe1612Val)
c.232T>G
n.365T>G
c.376T>G (p.Phe126Val)
c.5176T>G (p.Phe1726Val)
c.1030T>G (p.Phe344Val)
c.433T>G (p.Phe145Val)
19g.13235709A>GCA404337060CACNA1Ac.4972T>C (p.Phe1658Leu)
c.4978T>C (p.Phe1660Leu)
c.391T>C
n.196T>C
c.133T>C (p.Phe45Leu)
n.177T>C
c.4975T>C (p.Phe1659Leu)
n.961T>C
c.287T>C
c.4981T>C (p.Phe1661Leu)
c.268T>C (p.Phe90Leu)
c.4990T>C (p.Phe1664Leu)
c.4834T>C (p.Phe1612Leu)
c.232T>C
n.365T>C
c.376T>C (p.Phe126Leu)
c.5176T>C (p.Phe1726Leu)
c.1030T>C (p.Phe344Leu)
c.433T>C (p.Phe145Leu)
19g.13235709A>TCA404337062CACNA1Ac.4972T>A (p.Phe1658Ile)
c.4978T>A (p.Phe1660Ile)
c.391T>A
n.196T>A
c.133T>A (p.Phe45Ile)
n.177T>A
c.4975T>A (p.Phe1659Ile)
n.961T>A
c.287T>A
c.4981T>A (p.Phe1661Ile)
c.268T>A (p.Phe90Ile)
c.4990T>A (p.Phe1664Ile)
c.4834T>A (p.Phe1612Ile)
c.232T>A
n.365T>A
c.376T>A (p.Phe126Ile)
c.5176T>A (p.Phe1726Ile)
c.1030T>A (p.Phe344Ile)
c.433T>A (p.Phe145Ile)
19g.13235710G>ACA505658820CACNA1Ac.4971C>T (p.Ser1657=)
c.4977C>T (p.Ser1659=)
c.390C>T
n.195C>T
c.132C>T (p.Ser44=)
n.176C>T
c.4974C>T (p.Ser1658=)
n.960C>T
c.286C>T
c.4980C>T (p.Ser1660=)
c.267C>T (p.Ser89=)
c.4989C>T (p.Ser1663=)
c.4833C>T (p.Ser1611=)
c.231C>T
n.364C>T
c.375C>T (p.Ser125=)
c.5175C>T (p.Ser1725=)
c.1029C>T (p.Ser343=)
c.432C>T (p.Ser144=)
 COSMIC COSMIC COSMIC COSMIC
19g.13235710G>CCA404337065CACNA1Ac.4971C>G (p.Ser1657Arg)
c.4977C>G (p.Ser1659Arg)
c.390C>G
n.195C>G
c.132C>G (p.Ser44Arg)
n.176C>G
c.4974C>G (p.Ser1658Arg)
n.960C>G
c.286C>G
c.4980C>G (p.Ser1660Arg)
c.267C>G (p.Ser89Arg)
c.4989C>G (p.Ser1663Arg)
c.4833C>G (p.Ser1611Arg)
c.231C>G
n.364C>G
c.375C>G (p.Ser125Arg)
c.5175C>G (p.Ser1725Arg)
c.1029C>G (p.Ser343Arg)
c.432C>G (p.Ser144Arg)
19g.13235710G>TCA404337066CACNA1Ac.4971C>A (p.Ser1657Arg)
c.4977C>A (p.Ser1659Arg)
c.390C>A
n.195C>A
c.132C>A (p.Ser44Arg)
n.176C>A
c.4974C>A (p.Ser1658Arg)
n.960C>A
c.286C>A
c.4980C>A (p.Ser1660Arg)
c.267C>A (p.Ser89Arg)
c.4989C>A (p.Ser1663Arg)
c.4833C>A (p.Ser1611Arg)
c.231C>A
n.364C>A
c.375C>A (p.Ser125Arg)
c.5175C>A (p.Ser1725Arg)
c.1029C>A (p.Ser343Arg)
c.432C>A (p.Ser144Arg)
19g.13235711C>ACA404337067CACNA1Ac.4970G>T (p.Ser1657Ile)
c.4976G>T (p.Ser1659Ile)
c.389G>T
n.194G>T
c.131G>T (p.Ser44Ile)
n.175G>T
c.4973G>T (p.Ser1658Ile)
n.959G>T
c.285G>T
c.4979G>T (p.Ser1660Ile)
c.266G>T (p.Ser89Ile)
c.4988G>T (p.Ser1663Ile)
c.4832G>T (p.Ser1611Ile)
c.230G>T
n.363G>T
c.374G>T (p.Ser125Ile)
c.5174G>T (p.Ser1725Ile)
c.1028G>T (p.Ser343Ile)
c.431G>T (p.Ser144Ile)
 ClinVar
19g.13235711C>GCA404337069CACNA1Ac.4970G>C (p.Ser1657Thr)
c.4976G>C (p.Ser1659Thr)
c.389G>C
n.194G>C
c.131G>C (p.Ser44Thr)
n.175G>C
c.4973G>C (p.Ser1658Thr)
n.959G>C
c.285G>C
c.4979G>C (p.Ser1660Thr)
c.266G>C (p.Ser89Thr)
c.4988G>C (p.Ser1663Thr)
c.4832G>C (p.Ser1611Thr)
c.230G>C
n.363G>C
c.374G>C (p.Ser125Thr)
c.5174G>C (p.Ser1725Thr)
c.1028G>C (p.Ser343Thr)
c.431G>C (p.Ser144Thr)
19g.13235711C>TCA404337071CACNA1Ac.4970G>A (p.Ser1657Asn)
c.4976G>A (p.Ser1659Asn)
c.389G>A
n.194G>A
c.131G>A (p.Ser44Asn)
n.175G>A
c.4973G>A (p.Ser1658Asn)
n.959G>A
c.285G>A
c.4979G>A (p.Ser1660Asn)
c.266G>A (p.Ser89Asn)
c.4988G>A (p.Ser1663Asn)
c.4832G>A (p.Ser1611Asn)
c.230G>A
n.363G>A
c.374G>A (p.Ser125Asn)
c.5174G>A (p.Ser1725Asn)
c.1028G>A (p.Ser343Asn)
c.431G>A (p.Ser144Asn)
19g.13235712T>ACA404337078CACNA1Ac.4969A>T (p.Ser1657Cys)
c.4975A>T (p.Ser1659Cys)
c.388A>T
n.193A>T
c.130A>T (p.Ser44Cys)
n.174A>T
c.4972A>T (p.Ser1658Cys)
n.958A>T
c.284A>T
c.4978A>T (p.Ser1660Cys)
c.265A>T (p.Ser89Cys)
c.4987A>T (p.Ser1663Cys)
c.4831A>T (p.Ser1611Cys)
c.229A>T
n.362A>T
c.373A>T (p.Ser125Cys)
c.5173A>T (p.Ser1725Cys)
c.1027A>T (p.Ser343Cys)
c.430A>T (p.Ser144Cys)
19g.13235712T>CCA404337073CACNA1Ac.4969A>G (p.Ser1657Gly)
c.4975A>G (p.Ser1659Gly)
c.388A>G
n.193A>G
c.130A>G (p.Ser44Gly)
n.174A>G
c.4972A>G (p.Ser1658Gly)
n.958A>G
c.284A>G
c.4978A>G (p.Ser1660Gly)
c.265A>G (p.Ser89Gly)
c.4987A>G (p.Ser1663Gly)
c.4831A>G (p.Ser1611Gly)
c.229A>G
n.362A>G
c.373A>G (p.Ser125Gly)
c.5173A>G (p.Ser1725Gly)
c.1027A>G (p.Ser343Gly)
c.430A>G (p.Ser144Gly)
19g.13235712T>GCA404337076CACNA1Ac.4969A>C (p.Ser1657Arg)
c.4975A>C (p.Ser1659Arg)
c.388A>C
n.193A>C
c.130A>C (p.Ser44Arg)
n.174A>C
c.4972A>C (p.Ser1658Arg)
n.958A>C
c.284A>C
c.4978A>C (p.Ser1660Arg)
c.265A>C (p.Ser89Arg)
c.4987A>C (p.Ser1663Arg)
c.4831A>C (p.Ser1611Arg)
c.229A>C
n.362A>C
c.373A>C (p.Ser125Arg)
c.5173A>C (p.Ser1725Arg)
c.1027A>C (p.Ser343Arg)
c.430A>C (p.Ser144Arg)
19g.13235714_13235731delCA2697556335CACNA1Ac.4952_4969del
c.4958_4975del
c.371_388del
n.176_193del
c.113_130del
n.157_174del
c.4955_4972del
n.941_958del
c.267_284del
c.4961_4978del
c.248_265del
c.4970_4987del
c.4814_4831del
c.212_229del
n.345_362del
c.356_373del
c.5156_5173del
c.1010_1027del
c.413_430del
 ClinVar
19g.13235713C>ACA505658823CACNA1Ac.4968G>T (p.Leu1656=)
c.4974G>T (p.Leu1658=)
c.387G>T
n.192G>T
c.129G>T (p.Leu43=)
n.173G>T
c.4971G>T (p.Leu1657=)
n.957G>T
c.283G>T
c.4977G>T (p.Leu1659=)
c.264G>T (p.Leu88=)
c.4986G>T (p.Leu1662=)
c.4830G>T (p.Leu1610=)
c.228G>T
n.361G>T
c.372G>T (p.Leu124=)
c.5172G>T (p.Leu1724=)
c.1026G>T (p.Leu342=)
c.429G>T (p.Leu143=)
19g.13235713C>GCA505658822CACNA1Ac.4968G>C (p.Leu1656=)
c.4974G>C (p.Leu1658=)
c.387G>C
n.192G>C
c.129G>C (p.Leu43=)
n.173G>C
c.4971G>C (p.Leu1657=)
n.957G>C
c.283G>C
c.4977G>C (p.Leu1659=)
c.264G>C (p.Leu88=)
c.4986G>C (p.Leu1662=)
c.4830G>C (p.Leu1610=)
c.228G>C
n.361G>C
c.372G>C (p.Leu124=)
c.5172G>C (p.Leu1724=)
c.1026G>C (p.Leu342=)
c.429G>C (p.Leu143=)
 gnomAD v4
19g.13235713C>TCA505658821CACNA1Ac.4968G>A (p.Leu1656=)
c.4974G>A (p.Leu1658=)
c.387G>A
n.192G>A
c.129G>A (p.Leu43=)
n.173G>A
c.4971G>A (p.Leu1657=)
n.957G>A
c.283G>A
c.4977G>A (p.Leu1659=)
c.264G>A (p.Leu88=)
c.4986G>A (p.Leu1662=)
c.4830G>A (p.Leu1610=)
c.228G>A
n.361G>A
c.372G>A (p.Leu124=)
c.5172G>A (p.Leu1724=)
c.1026G>A (p.Leu342=)
c.429G>A (p.Leu143=)
 gnomAD v4
19g.13235714A=CA2323795787CACNA1Ac.4967T= (p.Leu1656=)
c.4973T= (p.Leu1658=)
c.386T=
n.191T=
c.128T= (p.Leu43=)
n.172T=
c.4970T= (p.Leu1657=)
n.956T=
c.282T=
c.4976T= (p.Leu1659=)
c.263T= (p.Leu88=)
c.4985T= (p.Leu1662=)
c.4829T= (p.Leu1610=)
c.227T=
n.360T=
c.371T= (p.Leu124=)
c.5171T= (p.Leu1724=)
c.1025T= (p.Leu342=)
c.428T= (p.Leu143=)
19g.13235714A>CCA404337083CACNA1Ac.4967T>G (p.Leu1656Arg)
c.4973T>G (p.Leu1658Arg)
c.386T>G
n.191T>G
c.128T>G (p.Leu43Arg)
n.172T>G
c.4970T>G (p.Leu1657Arg)
n.956T>G
c.282T>G
c.4976T>G (p.Leu1659Arg)
c.263T>G (p.Leu88Arg)
c.4985T>G (p.Leu1662Arg)
c.4829T>G (p.Leu1610Arg)
c.227T>G
n.360T>G
c.371T>G (p.Leu124Arg)
c.5171T>G (p.Leu1724Arg)
c.1025T>G (p.Leu342Arg)
c.428T>G (p.Leu143Arg)
 gnomAD v4
19g.13235714A>GCA9239859CACNA1Ac.4967T>C (p.Leu1656Pro)
c.4973T>C (p.Leu1658Pro)
c.386T>C
n.191T>C
c.128T>C (p.Leu43Pro)
n.172T>C
c.4970T>C (p.Leu1657Pro)
n.956T>C
c.282T>C
c.4976T>C (p.Leu1659Pro)
c.263T>C (p.Leu88Pro)
c.4985T>C (p.Leu1662Pro)
c.4829T>C (p.Leu1610Pro)
c.227T>C
n.360T>C
c.371T>C (p.Leu124Pro)
c.5171T>C (p.Leu1724Pro)
c.1025T>C (p.Leu342Pro)
c.428T>C (p.Leu143Pro)
 dbSNP ExAC gnomAD v2
19g.13235714A>TCA404337087CACNA1Ac.4967T>A (p.Leu1656Gln)
c.4973T>A (p.Leu1658Gln)
c.386T>A
n.191T>A
c.128T>A (p.Leu43Gln)
n.172T>A
c.4970T>A (p.Leu1657Gln)
n.956T>A
c.282T>A
c.4976T>A (p.Leu1659Gln)
c.263T>A (p.Leu88Gln)
c.4985T>A (p.Leu1662Gln)
c.4829T>A (p.Leu1610Gln)
c.227T>A
n.360T>A
c.371T>A (p.Leu124Gln)
c.5171T>A (p.Leu1724Gln)
c.1025T>A (p.Leu342Gln)
c.428T>A (p.Leu143Gln)
19g.13235715G>ACA9239860CACNA1Ac.4966C>T (p.Leu1656=)
c.4972C>T (p.Leu1658=)
c.385C>T
n.190C>T
c.127C>T (p.Leu43=)
n.171C>T
c.4969C>T (p.Leu1657=)
n.955C>T
c.281C>T
c.4975C>T (p.Leu1659=)
c.262C>T (p.Leu88=)
c.4984C>T (p.Leu1662=)
c.4828C>T (p.Leu1610=)
c.226C>T
n.359C>T
c.370C>T (p.Leu124=)
c.5170C>T (p.Leu1724=)
c.1024C>T (p.Leu342=)
c.427C>T (p.Leu143=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13235715G>CCA404337091CACNA1Ac.4966C>G (p.Leu1656Val)
c.4972C>G (p.Leu1658Val)
c.385C>G
n.190C>G
c.127C>G (p.Leu43Val)
n.171C>G
c.4969C>G (p.Leu1657Val)
n.955C>G
c.281C>G
c.4975C>G (p.Leu1659Val)
c.262C>G (p.Leu88Val)
c.4984C>G (p.Leu1662Val)
c.4828C>G (p.Leu1610Val)
c.226C>G
n.359C>G
c.370C>G (p.Leu124Val)
c.5170C>G (p.Leu1724Val)
c.1024C>G (p.Leu342Val)
c.427C>G (p.Leu143Val)
19g.13235715G=CA2323795788CACNA1Ac.4966C= (p.Leu1656=)
c.4972C= (p.Leu1658=)
c.385C=
n.190C=
c.127C= (p.Leu43=)
n.171C=
c.4969C= (p.Leu1657=)
n.955C=
c.281C=
c.4975C= (p.Leu1659=)
c.262C= (p.Leu88=)
c.4984C= (p.Leu1662=)
c.4828C= (p.Leu1610=)
c.226C=
n.359C=
c.370C= (p.Leu124=)
c.5170C= (p.Leu1724=)
c.1024C= (p.Leu342=)
c.427C= (p.Leu143=)
19g.13235715G>TCA404337096CACNA1Ac.4966C>A (p.Leu1656Met)
c.4972C>A (p.Leu1658Met)
c.385C>A
n.190C>A
c.127C>A (p.Leu43Met)
n.171C>A
c.4969C>A (p.Leu1657Met)
n.955C>A
c.281C>A
c.4975C>A (p.Leu1659Met)
c.262C>A (p.Leu88Met)
c.4984C>A (p.Leu1662Met)
c.4828C>A (p.Leu1610Met)
c.226C>A
n.359C>A
c.370C>A (p.Leu124Met)
c.5170C>A (p.Leu1724Met)
c.1024C>A (p.Leu342Met)
c.427C>A (p.Leu143Met)
19g.13235716G>ACA505658824CACNA1Ac.4965C>T (p.Asn1655=)
c.4971C>T (p.Asn1657=)
c.384C>T
n.189C>T
c.126C>T (p.Asn42=)
n.170C>T
c.4968C>T (p.Asn1656=)
n.954C>T
c.280C>T
c.4974C>T (p.Asn1658=)
c.261C>T (p.Asn87=)
c.4983C>T (p.Asn1661=)
c.4827C>T (p.Asn1609=)
c.225C>T
n.358C>T
c.369C>T (p.Asn123=)
c.5169C>T (p.Asn1723=)
c.1023C>T (p.Asn341=)
c.426C>T (p.Asn142=)
 gnomAD v4
19g.13235716G>CCA404337100CACNA1Ac.4965C>G (p.Asn1655Lys)
c.4971C>G (p.Asn1657Lys)
c.384C>G
n.189C>G
c.126C>G (p.Asn42Lys)
n.170C>G
c.4968C>G (p.Asn1656Lys)
n.954C>G
c.280C>G
c.4974C>G (p.Asn1658Lys)
c.261C>G (p.Asn87Lys)
c.4983C>G (p.Asn1661Lys)
c.4827C>G (p.Asn1609Lys)
c.225C>G
n.358C>G
c.369C>G (p.Asn123Lys)
c.5169C>G (p.Asn1723Lys)
c.1023C>G (p.Asn341Lys)
c.426C>G (p.Asn142Lys)
19g.13235716G>TCA404337107CACNA1Ac.4965C>A (p.Asn1655Lys)
c.4971C>A (p.Asn1657Lys)
c.384C>A
n.189C>A
c.126C>A (p.Asn42Lys)
n.170C>A
c.4968C>A (p.Asn1656Lys)
n.954C>A
c.280C>A
c.4974C>A (p.Asn1658Lys)
c.261C>A (p.Asn87Lys)
c.4983C>A (p.Asn1661Lys)
c.4827C>A (p.Asn1609Lys)
c.225C>A
n.358C>A
c.369C>A (p.Asn123Lys)
c.5169C>A (p.Asn1723Lys)
c.1023C>A (p.Asn341Lys)
c.426C>A (p.Asn142Lys)

Number of alleles fetched