Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.39679307G>ACA10244944CACNA1Ic.5256G>A (p.Leu1752=)
c.5151G>A (p.Leu1717=)
c.3402G>A (p.Leu1134=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679307G>CCA514787168CACNA1Ic.5256G>C (p.Leu1752=)
c.5151G>C (p.Leu1717=)
c.3402G>C (p.Leu1134=)
22g.39679307G=CA2405415071CACNA1Ic.5256G= (p.Leu1752=)
c.5151G= (p.Leu1717=)
c.3402G= (p.Leu1134=)
22g.39679307G>TCA514787169CACNA1Ic.5256G>T (p.Leu1752=)
c.5151G>T (p.Leu1717=)
c.3402G>T (p.Leu1134=)
 gnomAD v4
22g.39679308G>ACA411635475CACNA1Ic.5257G>A (p.Glu1753Lys)
c.5152G>A (p.Glu1718Lys)
c.3403G>A (p.Glu1135Lys)
22g.39679308G>CCA411635479CACNA1Ic.5257G>C (p.Glu1753Gln)
c.5152G>C (p.Glu1718Gln)
c.3403G>C (p.Glu1135Gln)
22g.39679308G>TCA411635483CACNA1Ic.5257G>T (p.Glu1753Ter)
c.5152G>T (p.Glu1718Ter)
c.3403G>T (p.Glu1135Ter)
 gnomAD v4
22g.39679309A=CA2405415072CACNA1Ic.5258A= (p.Glu1753=)
c.5153A= (p.Glu1718=)
c.3404A= (p.Glu1135=)
22g.39679309A>CCA411635487CACNA1Ic.5258A>C (p.Glu1753Ala)
c.5153A>C (p.Glu1718Ala)
c.3404A>C (p.Glu1135Ala)
22g.39679309A>GCA411635492CACNA1Ic.5258A>G (p.Glu1753Gly)
c.5153A>G (p.Glu1718Gly)
c.3404A>G (p.Glu1135Gly)
22g.39679309A>TCA411635495CACNA1Ic.5258A>T (p.Glu1753Val)
c.5153A>T (p.Glu1718Val)
c.3404A>T (p.Glu1135Val)
 dbSNP gnomAD v2
22g.39679310G>ACA514787170CACNA1Ic.5259G>A (p.Glu1753=)
c.5154G>A (p.Glu1718=)
c.3405G>A (p.Glu1135=)
 gnomAD v4
22g.39679310G>CCA411635500CACNA1Ic.5259G>C (p.Glu1753Asp)
c.5154G>C (p.Glu1718Asp)
c.3405G>C (p.Glu1135Asp)
22g.39679310G>TCA411635504CACNA1Ic.5259G>T (p.Glu1753Asp)
c.5154G>T (p.Glu1718Asp)
c.3405G>T (p.Glu1135Asp)
 gnomAD v4
22g.39679311A>CCA411635507CACNA1Ic.5260A>C (p.Met1754Leu)
c.5155A>C (p.Met1719Leu)
c.3406A>C (p.Met1136Leu)
22g.39679311A>GCA411635510CACNA1Ic.5260A>G (p.Met1754Val)
c.5155A>G (p.Met1719Val)
c.3406A>G (p.Met1136Val)
22g.39679311A>TCA411635516CACNA1Ic.5260A>T (p.Met1754Leu)
c.5155A>T (p.Met1719Leu)
c.3406A>T (p.Met1136Leu)
22g.39679312T>ACA411635525CACNA1Ic.5261T>A (p.Met1754Lys)
c.5156T>A (p.Met1719Lys)
c.3407T>A (p.Met1136Lys)
 dbSNP gnomAD v2
22g.39679312T>CCA411635545CACNA1Ic.5261T>C (p.Met1754Thr)
c.5156T>C (p.Met1719Thr)
c.3407T>C (p.Met1136Thr)
 gnomAD v4
22g.39679312T>GCA411635548CACNA1Ic.5261T>G (p.Met1754Arg)
c.5156T>G (p.Met1719Arg)
c.3407T>G (p.Met1136Arg)
22g.39679312T=CA2405415073CACNA1Ic.5261T= (p.Met1754=)
c.5156T= (p.Met1719=)
c.3407T= (p.Met1136=)
22g.39679313G>ACA411635557CACNA1Ic.5262G>A (p.Met1754Ile)
c.5157G>A (p.Met1719Ile)
c.3408G>A (p.Met1136Ile)
22g.39679313G>CCA411635563CACNA1Ic.5262G>C (p.Met1754Ile)
c.5157G>C (p.Met1719Ile)
c.3408G>C (p.Met1136Ile)
22g.39679313G>TCA411635566CACNA1Ic.5262G>T (p.Met1754Ile)
c.5157G>T (p.Met1719Ile)
c.3408G>T (p.Met1136Ile)
 gnomAD v4
22g.39679314G>ACA411635577CACNA1Ic.5263G>A (p.Ala1755Thr)
c.5158G>A (p.Ala1720Thr)
c.3409G>A (p.Ala1137Thr)
22g.39679314G>CCA411635583CACNA1Ic.5263G>C (p.Ala1755Pro)
c.5158G>C (p.Ala1720Pro)
c.3409G>C (p.Ala1137Pro)
22g.39679314G>TCA411635587CACNA1Ic.5263G>T (p.Ala1755Ser)
c.5158G>T (p.Ala1720Ser)
c.3409G>T (p.Ala1137Ser)
22g.39679315C>ACA411635599CACNA1Ic.5264C>A (p.Ala1755Asp)
c.5159C>A (p.Ala1720Asp)
c.3410C>A (p.Ala1137Asp)
 gnomAD v4
22g.39679315C=CA2405415074CACNA1Ic.5264C= (p.Ala1755=)
c.5159C= (p.Ala1720=)
c.3410C= (p.Ala1137=)
22g.39679315C>GCA411635595CACNA1Ic.5264C>G (p.Ala1755Gly)
c.5159C>G (p.Ala1720Gly)
c.3410C>G (p.Ala1137Gly)
22g.39679315C>TCA411635594CACNA1Ic.5264C>T (p.Ala1755Val)
c.5159C>T (p.Ala1720Val)
c.3410C>T (p.Ala1137Val)
 dbSNP gnomAD v3 gnomAD v4
22g.39679316C>ACA514787171CACNA1Ic.5265C>A (p.Ala1755=)
c.5160C>A (p.Ala1720=)
c.3411C>A (p.Ala1137=)
22g.39679316C=CA2405415075CACNA1Ic.5265C= (p.Ala1755=)
c.5160C= (p.Ala1720=)
c.3411C= (p.Ala1137=)
22g.39679316C>GCA514787172CACNA1Ic.5265C>G (p.Ala1755=)
c.5160C>G (p.Ala1720=)
c.3411C>G (p.Ala1137=)
22g.39679316C>TCA514787173CACNA1Ic.5265C>T (p.Ala1755=)
c.5160C>T (p.Ala1720=)
c.3411C>T (p.Ala1137=)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC
22g.39679317C>ACA411635607CACNA1Ic.5266C>A (p.His1756Asn)
c.5161C>A (p.His1721Asn)
c.3412C>A (p.His1138Asn)
 COSMIC COSMIC COSMIC COSMIC
22g.39679317C=CA2405415076CACNA1Ic.5266C= (p.His1756=)
c.5161C= (p.His1721=)
c.3412C= (p.His1138=)
22g.39679317C>GCA411635620CACNA1Ic.5266C>G (p.His1756Asp)
c.5161C>G (p.His1721Asp)
c.3412C>G (p.His1138Asp)
22g.39679317C>TCA411635611CACNA1Ic.5266C>T (p.His1756Tyr)
c.5161C>T (p.His1721Tyr)
c.3412C>T (p.His1138Tyr)
 dbSNP gnomAD v3 gnomAD v4
22g.39679318A=CA2405415077CACNA1Ic.5267A= (p.His1756=)
c.5162A= (p.His1721=)
c.3413A= (p.His1138=)
22g.39679318A>CCA411635634CACNA1Ic.5267A>C (p.His1756Pro)
c.5162A>C (p.His1721Pro)
c.3413A>C (p.His1138Pro)
22g.39679318A>GCA10244945CACNA1Ic.5267A>G (p.His1756Arg)
c.5162A>G (p.His1721Arg)
c.3413A>G (p.His1138Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679318A>TCA324410594CACNA1Ic.5267A>T (p.His1756Leu)
c.5162A>T (p.His1721Leu)
c.3413A>T (p.His1138Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.39679319T>ACA411635642CACNA1Ic.5268T>A (p.His1756Gln)
c.5163T>A (p.His1721Gln)
c.3414T>A (p.His1138Gln)
22g.39679319T>CCA10244946CACNA1Ic.5268T>C (p.His1756=)
c.5163T>C (p.His1721=)
c.3414T>C (p.His1138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679319T>GCA411635652CACNA1Ic.5268T>G (p.His1756Gln)
c.5163T>G (p.His1721Gln)
c.3414T>G (p.His1138Gln)
22g.39679319T=CA2405415078CACNA1Ic.5268T= (p.His1756=)
c.5163T= (p.His1721=)
c.3414T= (p.His1138=)
22g.39679320G>ACA411635654CACNA1Ic.5269G>A (p.Gly1757Ser)
c.5164G>A (p.Gly1722Ser)
c.3415G>A (p.Gly1139Ser)
22g.39679320G>CCA411635658CACNA1Ic.5269G>C (p.Gly1757Arg)
c.5164G>C (p.Gly1722Arg)
c.3415G>C (p.Gly1139Arg)
22g.39679320G>TCA411635660CACNA1Ic.5269G>T (p.Gly1757Cys)
c.5164G>T (p.Gly1722Cys)
c.3415G>T (p.Gly1139Cys)
 gnomAD v4
22g.39679321G>ACA411635664CACNA1Ic.5270G>A (p.Gly1757Asp)
c.5165G>A (p.Gly1722Asp)
c.3416G>A (p.Gly1139Asp)
 dbSNP gnomAD v4
22g.39679321G>CCA411635668CACNA1Ic.5270G>C (p.Gly1757Ala)
c.5165G>C (p.Gly1722Ala)
c.3416G>C (p.Gly1139Ala)
22g.39679321G=CA2405415079CACNA1Ic.5270G= (p.Gly1757=)
c.5165G= (p.Gly1722=)
c.3416G= (p.Gly1139=)
22g.39679321G>TCA411635669CACNA1Ic.5270G>T (p.Gly1757Val)
c.5165G>T (p.Gly1722Val)
c.3416G>T (p.Gly1139Val)
 dbSNP
22g.39679322C>ACA514787176CACNA1Ic.5271C>A (p.Gly1757=)
c.5166C>A (p.Gly1722=)
c.3417C>A (p.Gly1139=)
22g.39679322C=CA2405415080CACNA1Ic.5271C= (p.Gly1757=)
c.5166C= (p.Gly1722=)
c.3417C= (p.Gly1139=)
22g.39679322C>GCA514787174CACNA1Ic.5271C>G (p.Gly1757=)
c.5166C>G (p.Gly1722=)
c.3417C>G (p.Gly1139=)
22g.39679322C>TCA514787175CACNA1Ic.5271C>T (p.Gly1757=)
c.5166C>T (p.Gly1722=)
c.3417C>T (p.Gly1139=)
 dbSNP gnomAD v3 gnomAD v4
22g.39679323C>ACA411635678CACNA1Ic.5272C>A (p.Leu1758Met)
c.5167C>A (p.Leu1723Met)
c.3418C>A (p.Leu1140Met)
22g.39679323C>GCA411635673CACNA1Ic.5272C>G (p.Leu1758Val)
c.5167C>G (p.Leu1723Val)
c.3418C>G (p.Leu1140Val)
22g.39679323C>TCA514787177CACNA1Ic.5272C>T (p.Leu1758=)
c.5167C>T (p.Leu1723=)
c.3418C>T (p.Leu1140=)
22g.39679324T>ACA411635683CACNA1Ic.5273T>A (p.Leu1758Gln)
c.5168T>A (p.Leu1723Gln)
c.3419T>A (p.Leu1140Gln)
22g.39679324T>CCA411635684CACNA1Ic.5273T>C (p.Leu1758Pro)
c.5168T>C (p.Leu1723Pro)
c.3419T>C (p.Leu1140Pro)
22g.39679324T>GCA411635688CACNA1Ic.5273T>G (p.Leu1758Arg)
c.5168T>G (p.Leu1723Arg)
c.3419T>G (p.Leu1140Arg)
22g.39679325G>ACA514787178CACNA1Ic.5274G>A (p.Leu1758=)
c.5169G>A (p.Leu1723=)
c.3420G>A (p.Leu1140=)
 gnomAD v4
22g.39679325G>CCA514787179CACNA1Ic.5274G>C (p.Leu1758=)
c.5169G>C (p.Leu1723=)
c.3420G>C (p.Leu1140=)
22g.39679325G>TCA514787180CACNA1Ic.5274G>T (p.Leu1758=)
c.5169G>T (p.Leu1723=)
c.3420G>T (p.Leu1140=)
22g.39679326G>ACA411635689CACNA1Ic.5275G>A (p.Gly1759Ser)
c.5170G>A (p.Gly1724Ser)
c.3421G>A (p.Gly1141Ser)
22g.39679326G>CCA411635691CACNA1Ic.5275G>C (p.Gly1759Arg)
c.5170G>C (p.Gly1724Arg)
c.3421G>C (p.Gly1141Arg)
22g.39679326G>TCA411635693CACNA1Ic.5275G>T (p.Gly1759Cys)
c.5170G>T (p.Gly1724Cys)
c.3421G>T (p.Gly1141Cys)
 gnomAD v4
22g.39679327G>ACA411635709CACNA1Ic.5276G>A (p.Gly1759Asp)
c.5171G>A (p.Gly1724Asp)
c.3422G>A (p.Gly1141Asp)
 gnomAD v4
22g.39679327G>CCA411635707CACNA1Ic.5276G>C (p.Gly1759Ala)
c.5171G>C (p.Gly1724Ala)
c.3422G>C (p.Gly1141Ala)
22g.39679327G>TCA411635695CACNA1Ic.5276G>T (p.Gly1759Val)
c.5171G>T (p.Gly1724Val)
c.3422G>T (p.Gly1141Val)
22g.39679328C>ACA514787181CACNA1Ic.5277C>A (p.Gly1759=)
c.5172C>A (p.Gly1724=)
c.3423C>A (p.Gly1141=)
 gnomAD v4
22g.39679328C>GCA514787182CACNA1Ic.5277C>G (p.Gly1759=)
c.5172C>G (p.Gly1724=)
c.3423C>G (p.Gly1141=)
22g.39679328C>TCA514787183CACNA1Ic.5277C>T (p.Gly1759=)
c.5172C>T (p.Gly1724=)
c.3423C>T (p.Gly1141=)
22g.39679336_39679371delCA2656827551CACNA1Ic.5285_5320del (p.Pro1762_Gly1773del)
c.5180_5215del (p.Pro1727_Gly1738del)
c.3431_3466del (p.Pro1144_Gly1155del)
 gnomAD v4
22g.39679329C>ACA411635716CACNA1Ic.5278C>A (p.Pro1760Thr)
c.5173C>A (p.Pro1725Thr)
c.3424C>A (p.Pro1142Thr)
22g.39679329C>GCA411635718CACNA1Ic.5278C>G (p.Pro1760Ala)
c.5173C>G (p.Pro1725Ala)
c.3424C>G (p.Pro1142Ala)
22g.39679329C>TCA411635720CACNA1Ic.5278C>T (p.Pro1760Ser)
c.5173C>T (p.Pro1725Ser)
c.3424C>T (p.Pro1142Ser)
22g.39679330C>ACA411635722CACNA1Ic.5279C>A (p.Pro1760His)
c.5174C>A (p.Pro1725His)
c.3425C>A (p.Pro1142His)
22g.39679330C=CA2405415081CACNA1Ic.5279C= (p.Pro1760=)
c.5174C= (p.Pro1725=)
c.3425C= (p.Pro1142=)
22g.39679330C>GCA411635729CACNA1Ic.5279C>G (p.Pro1760Arg)
c.5174C>G (p.Pro1725Arg)
c.3425C>G (p.Pro1142Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.39679330C>TCA411635731CACNA1Ic.5279C>T (p.Pro1760Leu)
c.5174C>T (p.Pro1725Leu)
c.3425C>T (p.Pro1142Leu)
 gnomAD v4
22g.39679331T>ACA514787184CACNA1Ic.5280T>A (p.Pro1760=)
c.5175T>A (p.Pro1725=)
c.3426T>A (p.Pro1142=)
22g.39679331T>CCA514787185CACNA1Ic.5280T>C (p.Pro1760=)
c.5175T>C (p.Pro1725=)
c.3426T>C (p.Pro1142=)
22g.39679331T>GCA514787186CACNA1Ic.5280T>G (p.Pro1760=)
c.5175T>G (p.Pro1725=)
c.3426T>G (p.Pro1142=)
22g.39679332G>ACA411635737CACNA1Ic.5281G>A (p.Gly1761Ser)
c.5176G>A (p.Gly1726Ser)
c.3427G>A (p.Gly1143Ser)
22g.39679332G>CCA411635740CACNA1Ic.5281G>C (p.Gly1761Arg)
c.5176G>C (p.Gly1726Arg)
c.3427G>C (p.Gly1143Arg)
22g.39679332G>TCA411635739CACNA1Ic.5281G>T (p.Gly1761Cys)
c.5176G>T (p.Gly1726Cys)
c.3427G>T (p.Gly1143Cys)
22g.39679333G>ACA411635743CACNA1Ic.5282G>A (p.Gly1761Asp)
c.5177G>A (p.Gly1726Asp)
c.3428G>A (p.Gly1143Asp)
 dbSNP gnomAD v3 gnomAD v4
22g.39679333G>CCA411635744CACNA1Ic.5282G>C (p.Gly1761Ala)
c.5177G>C (p.Gly1726Ala)
c.3428G>C (p.Gly1143Ala)
 gnomAD v4
22g.39679333G>TCA411635745CACNA1Ic.5282G>T (p.Gly1761Val)
c.5177G>T (p.Gly1726Val)
c.3428G>T (p.Gly1143Val)
 gnomAD v4
22g.39679334C>ACA514787189CACNA1Ic.5283C>A (p.Gly1761=)
c.5178C>A (p.Gly1726=)
c.3429C>A (p.Gly1143=)
22g.39679334C>GCA514787188CACNA1Ic.5283C>G (p.Gly1761=)
c.5178C>G (p.Gly1726=)
c.3429C>G (p.Gly1143=)
22g.39679334C>TCA514787187CACNA1Ic.5283C>T (p.Gly1761=)
c.5178C>T (p.Gly1726=)
c.3429C>T (p.Gly1143=)
22g.39679335C>ACA411635748CACNA1Ic.5284C>A (p.Pro1762Thr)
c.5179C>A (p.Pro1727Thr)
c.3430C>A (p.Pro1144Thr)
22g.39679335C>GCA411635750CACNA1Ic.5284C>G (p.Pro1762Ala)
c.5179C>G (p.Pro1727Ala)
c.3430C>G (p.Pro1144Ala)
22g.39679335C>TCA411635754CACNA1Ic.5284C>T (p.Pro1762Ser)
c.5179C>T (p.Pro1727Ser)
c.3430C>T (p.Pro1144Ser)
 gnomAD v4
22g.39679336C>ACA411635768CACNA1Ic.5285C>A (p.Pro1762Gln)
c.5180C>A (p.Pro1727Gln)
c.3431C>A (p.Pro1144Gln)
22g.39679336C=CA2405415082CACNA1Ic.5285C= (p.Pro1762=)
c.5180C= (p.Pro1727=)
c.3431C= (p.Pro1144=)
22g.39679336C>GCA411635769CACNA1Ic.5285C>G (p.Pro1762Arg)
c.5180C>G (p.Pro1727Arg)
c.3431C>G (p.Pro1144Arg)
 gnomAD v4
22g.39679336C>TCA10244947CACNA1Ic.5285C>T (p.Pro1762Leu)
c.5180C>T (p.Pro1727Leu)
c.3431C>T (p.Pro1144Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679337G>ACA10244948CACNA1Ic.5286G>A (p.Pro1762=)
c.5181G>A (p.Pro1727=)
c.3432G>A (p.Pro1144=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679337G>CCA514787190CACNA1Ic.5286G>C (p.Pro1762=)
c.5181G>C (p.Pro1727=)
c.3432G>C (p.Pro1144=)
22g.39679337G=CA2405415083CACNA1Ic.5286G= (p.Pro1762=)
c.5181G= (p.Pro1727=)
c.3432G= (p.Pro1144=)
22g.39679337G>TCA514787191CACNA1Ic.5286G>T (p.Pro1762=)
c.5181G>T (p.Pro1727=)
c.3432G>T (p.Pro1144=)
 gnomAD v4
22g.39679338A>CCA514787192CACNA1Ic.5287A>C (p.Arg1763=)
c.5182A>C (p.Arg1728=)
c.3433A>C (p.Arg1145=)
22g.39679338A>GCA411635781CACNA1Ic.5287A>G (p.Arg1763Gly)
c.5182A>G (p.Arg1728Gly)
c.3433A>G (p.Arg1145Gly)
22g.39679338A>TCA411635783CACNA1Ic.5287A>T (p.Arg1763Trp)
c.5182A>T (p.Arg1728Trp)
c.3433A>T (p.Arg1145Trp)
 gnomAD v4
22g.39679339G>ACA411635791CACNA1Ic.5288G>A (p.Arg1763Lys)
c.5183G>A (p.Arg1728Lys)
c.3434G>A (p.Arg1145Lys)
 gnomAD v4
22g.39679339G>CCA411635795CACNA1Ic.5288G>C (p.Arg1763Thr)
c.5183G>C (p.Arg1728Thr)
c.3434G>C (p.Arg1145Thr)
22g.39679339G>TCA411635788CACNA1Ic.5288G>T (p.Arg1763Met)
c.5183G>T (p.Arg1728Met)
c.3434G>T (p.Arg1145Met)
22g.39679340G>ACA514787193CACNA1Ic.5289G>A (p.Arg1763=)
c.5184G>A (p.Arg1728=)
c.3435G>A (p.Arg1145=)
 gnomAD v4
22g.39679340G>CCA411635801CACNA1Ic.5289G>C (p.Arg1763Ser)
c.5184G>C (p.Arg1728Ser)
c.3435G>C (p.Arg1145Ser)
22g.39679340G>TCA411635804CACNA1Ic.5289G>T (p.Arg1763Ser)
c.5184G>T (p.Arg1728Ser)
c.3435G>T (p.Arg1145Ser)
22g.39679341C>ACA411635807CACNA1Ic.5290C>A (p.Leu1764Met)
c.5185C>A (p.Leu1729Met)
c.3436C>A (p.Leu1146Met)
22g.39679341C>GCA411635810CACNA1Ic.5290C>G (p.Leu1764Val)
c.5185C>G (p.Leu1729Val)
c.3436C>G (p.Leu1146Val)
 COSMIC COSMIC COSMIC COSMIC
22g.39679341C>TCA514787194CACNA1Ic.5290C>T (p.Leu1764=)
c.5185C>T (p.Leu1729=)
c.3436C>T (p.Leu1146=)
22g.39679342T>ACA411635826CACNA1Ic.5291T>A (p.Leu1764Gln)
c.5186T>A (p.Leu1729Gln)
c.3437T>A (p.Leu1146Gln)
22g.39679342T>CCA411635825CACNA1Ic.5291T>C (p.Leu1764Pro)
c.5186T>C (p.Leu1729Pro)
c.3437T>C (p.Leu1146Pro)
22g.39679342T>GCA411635815CACNA1Ic.5291T>G (p.Leu1764Arg)
c.5186T>G (p.Leu1729Arg)
c.3437T>G (p.Leu1146Arg)
22g.39679343G>ACA514787197CACNA1Ic.5292G>A (p.Leu1764=)
c.5187G>A (p.Leu1729=)
c.3438G>A (p.Leu1146=)
 gnomAD v4
22g.39679343G>CCA514787195CACNA1Ic.5292G>C (p.Leu1764=)
c.5187G>C (p.Leu1729=)
c.3438G>C (p.Leu1146=)
22g.39679343G>TCA514787196CACNA1Ic.5292G>T (p.Leu1764=)
c.5187G>T (p.Leu1729=)
c.3438G>T (p.Leu1146=)
 gnomAD v4
22g.39679344C>ACA411635831CACNA1Ic.5293C>A (p.Pro1765Thr)
c.5188C>A (p.Pro1730Thr)
c.3439C>A (p.Pro1147Thr)
22g.39679344C=CA2405415084CACNA1Ic.5293C= (p.Pro1765=)
c.5188C= (p.Pro1730=)
c.3439C= (p.Pro1147=)
22g.39679344C>GCA411635838CACNA1Ic.5293C>G (p.Pro1765Ala)
c.5188C>G (p.Pro1730Ala)
c.3439C>G (p.Pro1147Ala)
 gnomAD v4
22g.39679344C>TCA411635840CACNA1Ic.5293C>T (p.Pro1765Ser)
c.5188C>T (p.Pro1730Ser)
c.3439C>T (p.Pro1147Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679345C>ACA411635846CACNA1Ic.5294C>A (p.Pro1765His)
c.5189C>A (p.Pro1730His)
c.3440C>A (p.Pro1147His)
22g.39679345C=CA2405415085CACNA1Ic.5294C= (p.Pro1765=)
c.5189C= (p.Pro1730=)
c.3440C= (p.Pro1147=)
22g.39679345C>GCA411635848CACNA1Ic.5294C>G (p.Pro1765Arg)
c.5189C>G (p.Pro1730Arg)
c.3440C>G (p.Pro1147Arg)
22g.39679345C>TCA411635853CACNA1Ic.5294C>T (p.Pro1765Leu)
c.5189C>T (p.Pro1730Leu)
c.3440C>T (p.Pro1147Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.39679346T>ACA514787200CACNA1Ic.5295T>A (p.Pro1765=)
c.5190T>A (p.Pro1730=)
c.3441T>A (p.Pro1147=)
 dbSNP gnomAD v2 gnomAD v4
22g.39679346T>CCA514787199CACNA1Ic.5295T>C (p.Pro1765=)
c.5190T>C (p.Pro1730=)
c.3441T>C (p.Pro1147=)
22g.39679346T>GCA514787198CACNA1Ic.5295T>G (p.Pro1765=)
c.5190T>G (p.Pro1730=)
c.3441T>G (p.Pro1147=)
 gnomAD v4
22g.39679346T=CA2405415086CACNA1Ic.5295T= (p.Pro1765=)
c.5190T= (p.Pro1730=)
c.3441T= (p.Pro1147=)
22g.39679347A>CCA411635856CACNA1Ic.5296A>C (p.Thr1766Pro)
c.5191A>C (p.Thr1731Pro)
c.3442A>C (p.Thr1148Pro)
22g.39679347A>GCA411635863CACNA1Ic.5296A>G (p.Thr1766Ala)
c.5191A>G (p.Thr1731Ala)
c.3442A>G (p.Thr1148Ala)
22g.39679347A>TCA411635860CACNA1Ic.5296A>T (p.Thr1766Ser)
c.5191A>T (p.Thr1731Ser)
c.3442A>T (p.Thr1148Ser)
22g.39679348C>ACA411635866CACNA1Ic.5297C>A (p.Thr1766Asn)
c.5192C>A (p.Thr1731Asn)
c.3443C>A (p.Thr1148Asn)
22g.39679348C=CA2405415087CACNA1Ic.5297C= (p.Thr1766=)
c.5192C= (p.Thr1731=)
c.3443C= (p.Thr1148=)
22g.39679348C>GCA411635873CACNA1Ic.5297C>G (p.Thr1766Ser)
c.5192C>G (p.Thr1731Ser)
c.3443C>G (p.Thr1148Ser)
22g.39679348C>TCA10244949CACNA1Ic.5297C>T (p.Thr1766Ile)
c.5192C>T (p.Thr1731Ile)
c.3443C>T (p.Thr1148Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.39679349C>ACA514787201CACNA1Ic.5298C>A (p.Thr1766=)
c.5193C>A (p.Thr1731=)
c.3444C>A (p.Thr1148=)
22g.39679349C=CA2405415088CACNA1Ic.5298C= (p.Thr1766=)
c.5193C= (p.Thr1731=)
c.3444C= (p.Thr1148=)
22g.39679349C>GCA514787202CACNA1Ic.5298C>G (p.Thr1766=)
c.5193C>G (p.Thr1731=)
c.3444C>G (p.Thr1148=)
 gnomAD v4
22g.39679349C>TCA10244950CACNA1Ic.5298C>T (p.Thr1766=)
c.5193C>T (p.Thr1731=)
c.3444C>T (p.Thr1148=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679350G>ACA10244951CACNA1Ic.5299G>A (p.Gly1767Ser)
c.5194G>A (p.Gly1732Ser)
c.3445G>A (p.Gly1149Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679350G>CCA411635880CACNA1Ic.5299G>C (p.Gly1767Arg)
c.5194G>C (p.Gly1732Arg)
c.3445G>C (p.Gly1149Arg)
22g.39679350G=CA2405415089CACNA1Ic.5299G= (p.Gly1767=)
c.5194G= (p.Gly1732=)
c.3445G= (p.Gly1149=)
22g.39679350G>TCA411635883CACNA1Ic.5299G>T (p.Gly1767Cys)
c.5194G>T (p.Gly1732Cys)
c.3445G>T (p.Gly1149Cys)
 dbSNP gnomAD v2 gnomAD v4
22g.39679351G>ACA411635885CACNA1Ic.5300G>A (p.Gly1767Asp)
c.5195G>A (p.Gly1732Asp)
c.3446G>A (p.Gly1149Asp)
 gnomAD v4
22g.39679351G>CCA411635887CACNA1Ic.5300G>C (p.Gly1767Ala)
c.5195G>C (p.Gly1732Ala)
c.3446G>C (p.Gly1149Ala)
22g.39679351G>TCA411635888CACNA1Ic.5300G>T (p.Gly1767Val)
c.5195G>T (p.Gly1732Val)
c.3446G>T (p.Gly1149Val)
 gnomAD v4
22g.39679352C>ACA514787203CACNA1Ic.5301C>A (p.Gly1767=)
c.5196C>A (p.Gly1732=)
c.3447C>A (p.Gly1149=)
22g.39679352C>GCA514787205CACNA1Ic.5301C>G (p.Gly1767=)
c.5196C>G (p.Gly1732=)
c.3447C>G (p.Gly1149=)
22g.39679352C>TCA514787204CACNA1Ic.5301C>T (p.Gly1767=)
c.5196C>T (p.Gly1732=)
c.3447C>T (p.Gly1149=)
22g.39679353T>ACA411635893CACNA1Ic.5302T>A (p.Ser1768Thr)
c.5197T>A (p.Ser1733Thr)
c.3448T>A (p.Ser1150Thr)
22g.39679353T>CCA411635895CACNA1Ic.5302T>C (p.Ser1768Pro)
c.5197T>C (p.Ser1733Pro)
c.3448T>C (p.Ser1150Pro)
22g.39679353T>GCA411635898CACNA1Ic.5302T>G (p.Ser1768Ala)
c.5197T>G (p.Ser1733Ala)
c.3448T>G (p.Ser1150Ala)
 dbSNP
22g.39679353T=CA2405415090CACNA1Ic.5302T= (p.Ser1768=)
c.5197T= (p.Ser1733=)
c.3448T= (p.Ser1150=)
22g.39679354C>ACA411635908CACNA1Ic.5303C>A (p.Ser1768Tyr)
c.5198C>A (p.Ser1733Tyr)
c.3449C>A (p.Ser1150Tyr)
22g.39679354C>GCA411635912CACNA1Ic.5303C>G (p.Ser1768Cys)
c.5198C>G (p.Ser1733Cys)
c.3449C>G (p.Ser1150Cys)
22g.39679354C>TCA411635914CACNA1Ic.5303C>T (p.Ser1768Phe)
c.5198C>T (p.Ser1733Phe)
c.3449C>T (p.Ser1150Phe)
22g.39679357delCA2656827611CACNA1Ic.5306del (p.Pro1769ArgfsTer?)
c.5201del (p.Pro1734ArgfsTer?)
c.3452del (p.Pro1151ArgfsTer?)
 gnomAD v4
22g.39679355C>ACA514787207CACNA1Ic.5304C>A (p.Ser1768=)
c.5199C>A (p.Ser1733=)
c.3450C>A (p.Ser1150=)
22g.39679355C=CA2405415091CACNA1Ic.5304C= (p.Ser1768=)
c.5199C= (p.Ser1733=)
c.3450C= (p.Ser1150=)
22g.39679355C>GCA514787208CACNA1Ic.5304C>G (p.Ser1768=)
c.5199C>G (p.Ser1733=)
c.3450C>G (p.Ser1150=)
22g.39679355C>TCA514787206CACNA1Ic.5304C>T (p.Ser1768=)
c.5199C>T (p.Ser1733=)
c.3450C>T (p.Ser1150=)
 dbSNP gnomAD v4
22g.39679356C>ACA411635918CACNA1Ic.5305C>A (p.Pro1769Thr)
c.5200C>A (p.Pro1734Thr)
c.3451C>A (p.Pro1151Thr)
22g.39679356C>GCA411635924CACNA1Ic.5305C>G (p.Pro1769Ala)
c.5200C>G (p.Pro1734Ala)
c.3451C>G (p.Pro1151Ala)
22g.39679356C>TCA411635921CACNA1Ic.5305C>T (p.Pro1769Ser)
c.5200C>T (p.Pro1734Ser)
c.3451C>T (p.Pro1151Ser)
22g.39679357C>ACA411635931CACNA1Ic.5306C>A (p.Pro1769Gln)
c.5201C>A (p.Pro1734Gln)
c.3452C>A (p.Pro1151Gln)
 gnomAD v4
22g.39679357C=CA2405415092CACNA1Ic.5306C= (p.Pro1769=)
c.5201C= (p.Pro1734=)
c.3452C= (p.Pro1151=)
22g.39679357C>GCA411635935CACNA1Ic.5306C>G (p.Pro1769Arg)
c.5201C>G (p.Pro1734Arg)
c.3452C>G (p.Pro1151Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679357C>TCA10244952CACNA1Ic.5306C>T (p.Pro1769Leu)
c.5201C>T (p.Pro1734Leu)
c.3452C>T (p.Pro1151Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679358G>ACA10244953CACNA1Ic.5307G>A (p.Pro1769=)
c.5202G>A (p.Pro1734=)
c.3453G>A (p.Pro1151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679358G>CCA514787210CACNA1Ic.5307G>C (p.Pro1769=)
c.5202G>C (p.Pro1734=)
c.3453G>C (p.Pro1151=)
22g.39679358G=CA2405415093CACNA1Ic.5307G= (p.Pro1769=)
c.5202G= (p.Pro1734=)
c.3453G= (p.Pro1151=)
22g.39679358G>TCA514787209CACNA1Ic.5307G>T (p.Pro1769=)
c.5202G>T (p.Pro1734=)
c.3453G>T (p.Pro1151=)
 gnomAD v4
22g.39679360delCA2577724416CACNA1Ic.5309del (p.Gly1770AlafsTer?)
c.5204del (p.Gly1735AlafsTer?)
c.3455del (p.Gly1152AlafsTer?)
22g.39679359G>ACA411635944CACNA1Ic.5308G>A (p.Gly1770Ser)
c.5203G>A (p.Gly1735Ser)
c.3454G>A (p.Gly1152Ser)
 dbSNP gnomAD v4
22g.39679359G>CCA411635945CACNA1Ic.5308G>C (p.Gly1770Arg)
c.5203G>C (p.Gly1735Arg)
c.3454G>C (p.Gly1152Arg)
22g.39679359G=CA2405415094CACNA1Ic.5308G= (p.Gly1770=)
c.5203G= (p.Gly1735=)
c.3454G= (p.Gly1152=)
22g.39679359G>TCA411635946CACNA1Ic.5308G>T (p.Gly1770Cys)
c.5203G>T (p.Gly1735Cys)
c.3454G>T (p.Gly1152Cys)
22g.39679360G>ACA411635948CACNA1Ic.5309G>A (p.Gly1770Asp)
c.5204G>A (p.Gly1735Asp)
c.3455G>A (p.Gly1152Asp)
22g.39679360G>CCA411635950CACNA1Ic.5309G>C (p.Gly1770Ala)
c.5204G>C (p.Gly1735Ala)
c.3455G>C (p.Gly1152Ala)
 gnomAD v4
22g.39679360G>TCA411635953CACNA1Ic.5309G>T (p.Gly1770Val)
c.5204G>T (p.Gly1735Val)
c.3455G>T (p.Gly1152Val)
22g.39679361C>ACA10244955CACNA1Ic.5310C>A (p.Gly1770=)
c.5205C>A (p.Gly1735=)
c.3456C>A (p.Gly1152=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.39679361C=CA2405415095CACNA1Ic.5310C= (p.Gly1770=)
c.5205C= (p.Gly1735=)
c.3456C= (p.Gly1152=)
22g.39679361C>GCA514787211CACNA1Ic.5310C>G (p.Gly1770=)
c.5205C>G (p.Gly1735=)
c.3456C>G (p.Gly1152=)
22g.39679361C>TCA10244954CACNA1Ic.5310C>T (p.Gly1770=)
c.5205C>T (p.Gly1735=)
c.3456C>T (p.Gly1152=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679362G>ACA411635961CACNA1Ic.5311G>A (p.Ala1771Thr)
c.5206G>A (p.Ala1736Thr)
c.3457G>A (p.Ala1153Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679362G>CCA411635965CACNA1Ic.5311G>C (p.Ala1771Pro)
c.5206G>C (p.Ala1736Pro)
c.3457G>C (p.Ala1153Pro)
22g.39679362G=CA2405415096CACNA1Ic.5311G= (p.Ala1771=)
c.5206G= (p.Ala1736=)
c.3457G= (p.Ala1153=)
22g.39679362G>TCA411635969CACNA1Ic.5311G>T (p.Ala1771Ser)
c.5206G>T (p.Ala1736Ser)
c.3457G>T (p.Ala1153Ser)
 gnomAD v4
22g.39679363C>ACA411635973CACNA1Ic.5312C>A (p.Ala1771Asp)
c.5207C>A (p.Ala1736Asp)
c.3458C>A (p.Ala1153Asp)
 COSMIC COSMIC COSMIC COSMIC
22g.39679363C>GCA411635976CACNA1Ic.5312C>G (p.Ala1771Gly)
c.5207C>G (p.Ala1736Gly)
c.3458C>G (p.Ala1153Gly)
22g.39679363C>TCA411635979CACNA1Ic.5312C>T (p.Ala1771Val)
c.5207C>T (p.Ala1736Val)
c.3458C>T (p.Ala1153Val)
22g.39679366delCA2656827650CACNA1Ic.5315del (p.Pro1772LeufsTer?)
c.5210del (p.Pro1737LeufsTer?)
c.3461del (p.Pro1154LeufsTer?)
 gnomAD v4
22g.39679364C>ACA514787212CACNA1Ic.5313C>A (p.Ala1771=)
c.5208C>A (p.Ala1736=)
c.3459C>A (p.Ala1153=)
22g.39679364C>GCA514787213CACNA1Ic.5313C>G (p.Ala1771=)
c.5208C>G (p.Ala1736=)
c.3459C>G (p.Ala1153=)
22g.39679364C>TCA514787214CACNA1Ic.5313C>T (p.Ala1771=)
c.5208C>T (p.Ala1736=)
c.3459C>T (p.Ala1153=)
 gnomAD v4
22g.39679365C>ACA411635995CACNA1Ic.5314C>A (p.Pro1772Thr)
c.5209C>A (p.Pro1737Thr)
c.3460C>A (p.Pro1154Thr)
22g.39679365C>GCA411635992CACNA1Ic.5314C>G (p.Pro1772Ala)
c.5209C>G (p.Pro1737Ala)
c.3460C>G (p.Pro1154Ala)
22g.39679365C>TCA411635986CACNA1Ic.5314C>T (p.Pro1772Ser)
c.5209C>T (p.Pro1737Ser)
c.3460C>T (p.Pro1154Ser)
22g.39679366C>ACA411636000CACNA1Ic.5315C>A (p.Pro1772His)
c.5210C>A (p.Pro1737His)
c.3461C>A (p.Pro1154His)
 gnomAD v4
22g.39679366C=CA2405415097CACNA1Ic.5315C= (p.Pro1772=)
c.5210C= (p.Pro1737=)
c.3461C= (p.Pro1154=)
22g.39679366C>GCA411636002CACNA1Ic.5315C>G (p.Pro1772Arg)
c.5210C>G (p.Pro1737Arg)
c.3461C>G (p.Pro1154Arg)
22g.39679366C>TCA324410627CACNA1Ic.5315C>T (p.Pro1772Leu)
c.5210C>T (p.Pro1737Leu)
c.3461C>T (p.Pro1154Leu)
 dbSNP gnomAD v4
22g.39679367T>ACA514787215CACNA1Ic.5316T>A (p.Pro1772=)
c.5211T>A (p.Pro1737=)
c.3462T>A (p.Pro1154=)
22g.39679367T>CCA514787216CACNA1Ic.5316T>C (p.Pro1772=)
c.5211T>C (p.Pro1737=)
c.3462T>C (p.Pro1154=)
22g.39679367T>GCA514787217CACNA1Ic.5316T>G (p.Pro1772=)
c.5211T>G (p.Pro1737=)
c.3462T>G (p.Pro1154=)
22g.39679368G>ACA411636007CACNA1Ic.5317G>A (p.Gly1773Ser)
c.5212G>A (p.Gly1738Ser)
c.3463G>A (p.Gly1155Ser)
22g.39679368G>CCA411636011CACNA1Ic.5317G>C (p.Gly1773Arg)
c.5212G>C (p.Gly1738Arg)
c.3463G>C (p.Gly1155Arg)
22g.39679368G>TCA411636014CACNA1Ic.5317G>T (p.Gly1773Cys)
c.5212G>T (p.Gly1738Cys)
c.3463G>T (p.Gly1155Cys)
22g.39679369G>ACA324410630CACNA1Ic.5318G>A (p.Gly1773Asp)
c.5213G>A (p.Gly1738Asp)
c.3464G>A (p.Gly1155Asp)
 dbSNP gnomAD v3 gnomAD v4
22g.39679369G>CCA411636022CACNA1Ic.5318G>C (p.Gly1773Ala)
c.5213G>C (p.Gly1738Ala)
c.3464G>C (p.Gly1155Ala)
22g.39679369G=CA2405415098CACNA1Ic.5318G= (p.Gly1773=)
c.5213G= (p.Gly1738=)
c.3464G= (p.Gly1155=)
22g.39679369G>TCA411636018CACNA1Ic.5318G>T (p.Gly1773Val)
c.5213G>T (p.Gly1738Val)
c.3464G>T (p.Gly1155Val)
 gnomAD v4
22g.39679370C>ACA514787218CACNA1Ic.5319C>A (p.Gly1773=)
c.5214C>A (p.Gly1738=)
c.3465C>A (p.Gly1155=)
 gnomAD v4
22g.39679370C>GCA514787220CACNA1Ic.5319C>G (p.Gly1773=)
c.5214C>G (p.Gly1738=)
c.3465C>G (p.Gly1155=)
22g.39679370C>TCA514787219CACNA1Ic.5319C>T (p.Gly1773=)
c.5214C>T (p.Gly1738=)
c.3465C>T (p.Gly1155=)
 gnomAD v4
22g.39679371C>ACA514787221CACNA1Ic.5320C>A (p.Arg1774=)
c.5215C>A (p.Arg1739=)
c.3466C>A (p.Arg1156=)
22g.39679371C>GCA411636025CACNA1Ic.5320C>G (p.Arg1774Gly)
c.5215C>G (p.Arg1739Gly)
c.3466C>G (p.Arg1156Gly)
22g.39679371C>TCA411636028CACNA1Ic.5320C>T (p.Arg1774Ter)
c.5215C>T (p.Arg1739Ter)
c.3466C>T (p.Arg1156Ter)
 gnomAD v4
22g.39679372G>ACA324410636CACNA1Ic.5321G>A (p.Arg1774Gln)
c.5216G>A (p.Arg1739Gln)
c.3467G>A (p.Arg1156Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679372G>CCA411636033CACNA1Ic.5321G>C (p.Arg1774Pro)
c.5216G>C (p.Arg1739Pro)
c.3467G>C (p.Arg1156Pro)
22g.39679372G=CA2405415099CACNA1Ic.5321G= (p.Arg1774=)
c.5216G= (p.Arg1739=)
c.3467G= (p.Arg1156=)
22g.39679372G>TCA411636038CACNA1Ic.5321G>T (p.Arg1774Leu)
c.5216G>T (p.Arg1739Leu)
c.3467G>T (p.Arg1156Leu)
 gnomAD v4
22g.39679373A>CCA514787223CACNA1Ic.5322A>C (p.Arg1774=)
c.5217A>C (p.Arg1739=)
c.3468A>C (p.Arg1156=)
22g.39679373A>GCA514787222CACNA1Ic.5322A>G (p.Arg1774=)
c.5217A>G (p.Arg1739=)
c.3468A>G (p.Arg1156=)
 gnomAD v4
22g.39679373A>TCA514787224CACNA1Ic.5322A>T (p.Arg1774=)
c.5217A>T (p.Arg1739=)
c.3468A>T (p.Arg1156=)
22g.39679374G>ACA411636039CACNA1Ic.5323G>A (p.Gly1775Arg)
c.5218G>A (p.Gly1740Arg)
c.3469G>A (p.Gly1157Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679374G>CCA411636040CACNA1Ic.5323G>C (p.Gly1775Arg)
c.5218G>C (p.Gly1740Arg)
c.3469G>C (p.Gly1157Arg)
22g.39679374G=CA2405415100CACNA1Ic.5323G= (p.Gly1775=)
c.5218G= (p.Gly1740=)
c.3469G= (p.Gly1157=)
22g.39679374G>TCA411636042CACNA1Ic.5323G>T (p.Gly1775Trp)
c.5218G>T (p.Gly1740Trp)
c.3469G>T (p.Gly1157Trp)
 gnomAD v4
22g.39679375G>ACA411636044CACNA1Ic.5324G>A (p.Gly1775Glu)
c.5219G>A (p.Gly1740Glu)
c.3470G>A (p.Gly1157Glu)
22g.39679375G>CCA411636048CACNA1Ic.5324G>C (p.Gly1775Ala)
c.5219G>C (p.Gly1740Ala)
c.3470G>C (p.Gly1157Ala)
22g.39679375G>TCA411636050CACNA1Ic.5324G>T (p.Gly1775Val)
c.5219G>T (p.Gly1740Val)
c.3470G>T (p.Gly1157Val)
22g.39679377_39679389dupCA2656827679CACNA1Ic.5326_5338dup (p.Gly1780AlafsTer?)
c.5221_5233dup (p.Gly1745AlafsTer?)
c.3472_3484dup (p.Gly1162AlafsTer?)
 gnomAD v4
22g.39679376G>ACA514787227CACNA1Ic.5325G>A (p.Gly1775=)
c.5220G>A (p.Gly1740=)
c.3471G>A (p.Gly1157=)
22g.39679376G>CCA514787226CACNA1Ic.5325G>C (p.Gly1775=)
c.5220G>C (p.Gly1740=)
c.3471G>C (p.Gly1157=)
 dbSNP gnomAD v2 gnomAD v4
22g.39679376G=CA2405415101CACNA1Ic.5325G= (p.Gly1775=)
c.5220G= (p.Gly1740=)
c.3471G= (p.Gly1157=)
22g.39679376G>TCA514787225CACNA1Ic.5325G>T (p.Gly1775=)
c.5220G>T (p.Gly1740=)
c.3471G>T (p.Gly1157=)
 gnomAD v4
22g.39679377C>ACA411636053CACNA1Ic.5326C>A (p.Pro1776Thr)
c.5221C>A (p.Pro1741Thr)
c.3472C>A (p.Pro1158Thr)
 dbSNP
22g.39679377C=CA2405415102CACNA1Ic.5326C= (p.Pro1776=)
c.5221C= (p.Pro1741=)
c.3472C= (p.Pro1158=)
22g.39679377C>GCA411636062CACNA1Ic.5326C>G (p.Pro1776Ala)
c.5221C>G (p.Pro1741Ala)
c.3472C>G (p.Pro1158Ala)
22g.39679377C>TCA411636059CACNA1Ic.5326C>T (p.Pro1776Ser)
c.5221C>T (p.Pro1741Ser)
c.3472C>T (p.Pro1158Ser)
 gnomAD v4
22g.39679378C>ACA411636065CACNA1Ic.5327C>A (p.Pro1776Gln)
c.5222C>A (p.Pro1741Gln)
c.3473C>A (p.Pro1158Gln)
 gnomAD v4
22g.39679378C=CA2405415103CACNA1Ic.5327C= (p.Pro1776=)
c.5222C= (p.Pro1741=)
c.3473C= (p.Pro1158=)
22g.39679378C>GCA411636070CACNA1Ic.5327C>G (p.Pro1776Arg)
c.5222C>G (p.Pro1741Arg)
c.3473C>G (p.Pro1158Arg)
22g.39679378C>TCA10244956CACNA1Ic.5327C>T (p.Pro1776Leu)
c.5222C>T (p.Pro1741Leu)
c.3473C>T (p.Pro1158Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679379G>ACA10244957CACNA1Ic.5328G>A (p.Pro1776=)
c.5223G>A (p.Pro1741=)
c.3474G>A (p.Pro1158=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679379G>CCA514787228CACNA1Ic.5328G>C (p.Pro1776=)
c.5223G>C (p.Pro1741=)
c.3474G>C (p.Pro1158=)
22g.39679379G=CA2405415104CACNA1Ic.5328G= (p.Pro1776=)
c.5223G= (p.Pro1741=)
c.3474G= (p.Pro1158=)
22g.39679379G>TCA514787229CACNA1Ic.5328G>T (p.Pro1776=)
c.5223G>T (p.Pro1741=)
c.3474G>T (p.Pro1158=)
22g.39679380G>ACA411636071CACNA1Ic.5329G>A (p.Gly1777Arg)
c.5224G>A (p.Gly1742Arg)
c.3475G>A (p.Gly1159Arg)
22g.39679380G>CCA411636074CACNA1Ic.5329G>C (p.Gly1777Arg)
c.5224G>C (p.Gly1742Arg)
c.3475G>C (p.Gly1159Arg)
22g.39679380G>TCA411636076CACNA1Ic.5329G>T (p.Gly1777Ter)
c.5224G>T (p.Gly1742Ter)
c.3475G>T (p.Gly1159Ter)
 gnomAD v4
22g.39679381G>ACA411636089CACNA1Ic.5330G>A (p.Gly1777Glu)
c.5225G>A (p.Gly1742Glu)
c.3476G>A (p.Gly1159Glu)
22g.39679381G>CCA324410637CACNA1Ic.5330G>C (p.Gly1777Ala)
c.5225G>C (p.Gly1742Ala)
c.3476G>C (p.Gly1159Ala)
 dbSNP gnomAD v2 gnomAD v4
22g.39679381G=CA2405415105CACNA1Ic.5330G= (p.Gly1777=)
c.5225G= (p.Gly1742=)
c.3476G= (p.Gly1159=)
22g.39679381G>TCA411636096CACNA1Ic.5330G>T (p.Gly1777Val)
c.5225G>T (p.Gly1742Val)
c.3476G>T (p.Gly1159Val)
22g.39679382A>CCA514787230CACNA1Ic.5331A>C (p.Gly1777=)
c.5226A>C (p.Gly1742=)
c.3477A>C (p.Gly1159=)
22g.39679382A>GCA514787231CACNA1Ic.5331A>G (p.Gly1777=)
c.5226A>G (p.Gly1742=)
c.3477A>G (p.Gly1159=)
22g.39679382A>TCA514787232CACNA1Ic.5331A>T (p.Gly1777=)
c.5226A>T (p.Gly1742=)
c.3477A>T (p.Gly1159=)
22g.39679383G>ACA411636099CACNA1Ic.5332G>A (p.Gly1778Arg)
c.5227G>A (p.Gly1743Arg)
c.3478G>A (p.Gly1160Arg)
22g.39679383G>CCA411636100CACNA1Ic.5332G>C (p.Gly1778Arg)
c.5227G>C (p.Gly1743Arg)
c.3478G>C (p.Gly1160Arg)
22g.39679383G>TCA411636101CACNA1Ic.5332G>T (p.Gly1778Trp)
c.5227G>T (p.Gly1743Trp)
c.3478G>T (p.Gly1160Trp)
22g.39679386delCA2656827689CACNA1Ic.5335del (p.Ala1779ArgfsTer30)
c.5230del (p.Ala1744ArgfsTer30)
c.3481del (p.Ala1161ArgfsTer30)
c.3481del (p.Ala1161ArgfsTer27)
 gnomAD v4
22g.39679384G>ACA411636107CACNA1Ic.5333G>A (p.Gly1778Glu)
c.5228G>A (p.Gly1743Glu)
c.3479G>A (p.Gly1160Glu)
22g.39679384G>CCA411636108CACNA1Ic.5333G>C (p.Gly1778Ala)
c.5228G>C (p.Gly1743Ala)
c.3479G>C (p.Gly1160Ala)
22g.39679384G>TCA411636110CACNA1Ic.5333G>T (p.Gly1778Val)
c.5228G>T (p.Gly1743Val)
c.3479G>T (p.Gly1160Val)
22g.39679385G>ACA514787233CACNA1Ic.5334G>A (p.Gly1778=)
c.5229G>A (p.Gly1743=)
c.3480G>A (p.Gly1160=)
22g.39679385G>CCA514787235CACNA1Ic.5334G>C (p.Gly1778=)
c.5229G>C (p.Gly1743=)
c.3480G>C (p.Gly1160=)
22g.39679385G>TCA514787234CACNA1Ic.5334G>T (p.Gly1778=)
c.5229G>T (p.Gly1743=)
c.3480G>T (p.Gly1160=)
22g.39679386G>ACA411636112CACNA1Ic.5335G>A (p.Ala1779Thr)
c.5230G>A (p.Ala1744Thr)
c.3481G>A (p.Ala1161Thr)
22g.39679386G>CCA411636117CACNA1Ic.5335G>C (p.Ala1779Pro)
c.5230G>C (p.Ala1744Pro)
c.3481G>C (p.Ala1161Pro)
22g.39679386G=CA2405415106CACNA1Ic.5335G= (p.Ala1779=)
c.5230G= (p.Ala1744=)
c.3481G= (p.Ala1161=)
22g.39679386G>TCA411636115CACNA1Ic.5335G>T (p.Ala1779Ser)
c.5230G>T (p.Ala1744Ser)
c.3481G>T (p.Ala1161Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679387delCA2656827690CACNA1Ic.5336del (p.Ala1779GlyfsTer30)
c.5231del (p.Ala1744GlyfsTer30)
c.3482del (p.Ala1161GlyfsTer30)
c.3482del (p.Ala1161GlyfsTer27)
 gnomAD v4
22g.39679387C>ACA411636120CACNA1Ic.5336C>A (p.Ala1779Glu)
c.5231C>A (p.Ala1744Glu)
c.3482C>A (p.Ala1161Glu)
 dbSNP gnomAD v4
22g.39679387C=CA2405415107CACNA1Ic.5336C= (p.Ala1779=)
c.5231C= (p.Ala1744=)
c.3482C= (p.Ala1161=)
22g.39679387C>GCA411636122CACNA1Ic.5336C>G (p.Ala1779Gly)
c.5231C>G (p.Ala1744Gly)
c.3482C>G (p.Ala1161Gly)
22g.39679387C>TCA324410638CACNA1Ic.5336C>T (p.Ala1779Val)
c.5231C>T (p.Ala1744Val)
c.3482C>T (p.Ala1161Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679388G>ACA10244958CACNA1Ic.5337G>A (p.Ala1779=)
c.5232G>A (p.Ala1744=)
c.3483G>A (p.Ala1161=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679388G>CCA514787237CACNA1Ic.5337G>C (p.Ala1779=)
c.5232G>C (p.Ala1744=)
c.3483G>C (p.Ala1161=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679388G=CA2405415108CACNA1Ic.5337G= (p.Ala1779=)
c.5232G= (p.Ala1744=)
c.3483G= (p.Ala1161=)
22g.39679388G>TCA514787236CACNA1Ic.5337G>T (p.Ala1779=)
c.5232G>T (p.Ala1744=)
c.3483G>T (p.Ala1161=)
 dbSNP gnomAD v4
22g.39679389G>ACA411636128CACNA1Ic.5338G>A (p.Gly1780Ser)
c.5233G>A (p.Gly1745Ser)
c.3484G>A (p.Gly1162Ser)
 gnomAD v4
22g.39679389G>CCA324410640CACNA1Ic.5338G>C (p.Gly1780Arg)
c.5233G>C (p.Gly1745Arg)
c.3484G>C (p.Gly1162Arg)
 dbSNP
22g.39679389G=CA2405415109CACNA1Ic.5338G= (p.Gly1780=)
c.5233G= (p.Gly1745=)
c.3484G= (p.Gly1162=)
22g.39679389G>TCA411636129CACNA1Ic.5338G>T (p.Gly1780Cys)
c.5233G>T (p.Gly1745Cys)
c.3484G>T (p.Gly1162Cys)
22g.39679390G>ACA10244959CACNA1Ic.5339G>A (p.Gly1780Asp)
c.5234G>A (p.Gly1745Asp)
c.3485G>A (p.Gly1162Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679390G>CCA411636133CACNA1Ic.5339G>C (p.Gly1780Ala)
c.5234G>C (p.Gly1745Ala)
c.3485G>C (p.Gly1162Ala)
22g.39679390G=CA2405415110CACNA1Ic.5339G= (p.Gly1780=)
c.5234G= (p.Gly1745=)
c.3485G= (p.Gly1162=)
22g.39679390G>TCA324410642CACNA1Ic.5339G>T (p.Gly1780Val)
c.5234G>T (p.Gly1745Val)
c.3485G>T (p.Gly1162Val)
 dbSNP gnomAD v4
22g.39679391C>ACA514787238CACNA1Ic.5340C>A (p.Gly1780=)
c.5235C>A (p.Gly1745=)
c.3486C>A (p.Gly1162=)
 dbSNP gnomAD v2 gnomAD v4
22g.39679391C=CA2405415111CACNA1Ic.5340C= (p.Gly1780=)
c.5235C= (p.Gly1745=)
c.3486C= (p.Gly1162=)
22g.39679391C>GCA514787239CACNA1Ic.5340C>G (p.Gly1780=)
c.5235C>G (p.Gly1745=)
c.3486C>G (p.Gly1162=)
 gnomAD v4
22g.39679391C>TCA324410643CACNA1Ic.5340C>T (p.Gly1780=)
c.5235C>T (p.Gly1745=)
c.3486C>T (p.Gly1162=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679392G>ACA411636142CACNA1Ic.5341G>A (p.Gly1781Ser)
c.5236G>A (p.Gly1746Ser)
c.3487G>A (p.Gly1163Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679392G>CCA411636141CACNA1Ic.5341G>C (p.Gly1781Arg)
c.5236G>C (p.Gly1746Arg)
c.3487G>C (p.Gly1163Arg)
22g.39679392G=CA2405415112CACNA1Ic.5341G= (p.Gly1781=)
c.5236G= (p.Gly1746=)
c.3487G= (p.Gly1163=)
22g.39679392G>TCA411636140CACNA1Ic.5341G>T (p.Gly1781Cys)
c.5236G>T (p.Gly1746Cys)
c.3487G>T (p.Gly1163Cys)
 gnomAD v4
22g.39679393G>ACA411636149CACNA1Ic.5342G>A (p.Gly1781Asp)
c.5237G>A (p.Gly1746Asp)
c.3488G>A (p.Gly1163Asp)
 gnomAD v4
22g.39679393G>CCA411636144CACNA1Ic.5342G>C (p.Gly1781Ala)
c.5237G>C (p.Gly1746Ala)
c.3488G>C (p.Gly1163Ala)
22g.39679393G>TCA411636148CACNA1Ic.5342G>T (p.Gly1781Val)
c.5237G>T (p.Gly1746Val)
c.3488G>T (p.Gly1163Val)
 gnomAD v4
22g.39679394C>ACA514787241CACNA1Ic.5343C>A (p.Gly1781=)
c.5238C>A (p.Gly1746=)
c.3489C>A (p.Gly1163=)
22g.39679394C=CA2405415113CACNA1Ic.5343C= (p.Gly1781=)
c.5238C= (p.Gly1746=)
c.3489C= (p.Gly1163=)
22g.39679394C>GCA514787240CACNA1Ic.5343C>G (p.Gly1781=)
c.5238C>G (p.Gly1746=)
c.3489C>G (p.Gly1163=)
 gnomAD v4
22g.39679394C>TCA324410656CACNA1Ic.5343C>T (p.Gly1781=)
c.5238C>T (p.Gly1746=)
c.3489C>T (p.Gly1163=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679395G>ACA10244960CACNA1Ic.5344G>A (p.Gly1782Arg)
c.5239G>A (p.Gly1747Arg)
c.3490G>A (p.Gly1164Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.39679395G>CCA411636162CACNA1Ic.5344G>C (p.Gly1782Arg)
c.5239G>C (p.Gly1747Arg)
c.3490G>C (p.Gly1164Arg)
22g.39679395G=CA2405415114CACNA1Ic.5344G= (p.Gly1782=)
c.5239G= (p.Gly1747=)
c.3490G= (p.Gly1164=)
22g.39679395G>TCA411636163CACNA1Ic.5344G>T (p.Gly1782Trp)
c.5239G>T (p.Gly1747Trp)
c.3490G>T (p.Gly1164Trp)
22g.39679396G>ACA411636171CACNA1Ic.5345G>A (p.Gly1782Glu)
c.5240G>A (p.Gly1747Glu)
c.3491G>A (p.Gly1164Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679396G>CCA411636167CACNA1Ic.5345G>C (p.Gly1782Ala)
c.5240G>C (p.Gly1747Ala)
c.3491G>C (p.Gly1164Ala)
22g.39679396G=CA2405415115CACNA1Ic.5345G= (p.Gly1782=)
c.5240G= (p.Gly1747=)
c.3491G= (p.Gly1164=)
22g.39679396G>TCA411636164CACNA1Ic.5345G>T (p.Gly1782Val)
c.5240G>T (p.Gly1747Val)
c.3491G>T (p.Gly1164Val)
22g.39679397G>ACA514787244CACNA1Ic.5346G>A (p.Gly1782=)
c.5241G>A (p.Gly1747=)
c.3492G>A (p.Gly1164=)
 dbSNP gnomAD v4
22g.39679397G>CCA514787242CACNA1Ic.5346G>C (p.Gly1782=)
c.5241G>C (p.Gly1747=)
c.3492G>C (p.Gly1164=)
22g.39679397G=CA2405415116CACNA1Ic.5346G= (p.Gly1782=)
c.5241G= (p.Gly1747=)
c.3492G= (p.Gly1164=)
22g.39679397G>TCA514787243CACNA1Ic.5346G>T (p.Gly1782=)
c.5241G>T (p.Gly1747=)
c.3492G>T (p.Gly1164=)
 gnomAD v4
22g.39679398G>ACA411636177CACNA1Ic.5347G>A (p.Gly1783Ser)
c.5242G>A (p.Gly1748Ser)
c.3493G>A (p.Gly1165Ser)
 dbSNP gnomAD v3 gnomAD v4
22g.39679398G>CCA411636180CACNA1Ic.5347G>C (p.Gly1783Arg)
c.5242G>C (p.Gly1748Arg)
c.3493G>C (p.Gly1165Arg)
22g.39679398G=CA2405415117CACNA1Ic.5347G= (p.Gly1783=)
c.5242G= (p.Gly1748=)
c.3493G= (p.Gly1165=)
22g.39679398G>TCA411636192CACNA1Ic.5347G>T (p.Gly1783Cys)
c.5242G>T (p.Gly1748Cys)
c.3493G>T (p.Gly1165Cys)
 dbSNP
22g.39679398_39679399insTGGTCCTCCGGCCAGCCGGCCTCAGCACA2656827735CACNA1Ic.5347_5348insTGGTCCTCCGGCCAGCCGGCCTCAGCA (p.Gly1783delinsValValLeuArgProAlaGlyLeuSerSer)
c.5242_5243insTGGTCCTCCGGCCAGCCGGCCTCAGCA (p.Gly1748delinsValValLeuArgProAlaGlyLeuSerSer)
c.3493_3494insTGGTCCTCCGGCCAGCCGGCCTCAGCA (p.Gly1165delinsValValLeuArgProAlaGlyLeuSerSer)
 gnomAD v4
22g.39679399G>ACA411636197CACNA1Ic.5348G>A (p.Gly1783Asp)
c.5243G>A (p.Gly1748Asp)
c.3494G>A (p.Gly1165Asp)
 dbSNP gnomAD v3 gnomAD v4
22g.39679399G>CCA411636200CACNA1Ic.5348G>C (p.Gly1783Ala)
c.5243G>C (p.Gly1748Ala)
c.3494G>C (p.Gly1165Ala)
22g.39679399G=CA2405415118CACNA1Ic.5348G= (p.Gly1783=)
c.5243G= (p.Gly1748=)
c.3494G= (p.Gly1165=)
22g.39679399G>TCA411636203CACNA1Ic.5348G>T (p.Gly1783Val)
c.5243G>T (p.Gly1748Val)
c.3494G>T (p.Gly1165Val)
 gnomAD v4
22g.39679400C>ACA514787246CACNA1Ic.5349C>A (p.Gly1783=)
c.5244C>A (p.Gly1748=)
c.3495C>A (p.Gly1165=)
 dbSNP gnomAD v4
22g.39679400C=CA2405415119CACNA1Ic.5349C= (p.Gly1783=)
c.5244C= (p.Gly1748=)
c.3495C= (p.Gly1165=)
22g.39679400C>GCA514787245CACNA1Ic.5349C>G (p.Gly1783=)
c.5244C>G (p.Gly1748=)
c.3495C>G (p.Gly1165=)
 gnomAD v4
22g.39679400C>TCA324410672CACNA1Ic.5349C>T (p.Gly1783=)
c.5244C>T (p.Gly1748=)
c.3495C>T (p.Gly1165=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679401G>ACA411636206CACNA1Ic.5350G>A (p.Asp1784Asn)
c.5245G>A (p.Asp1749Asn)
c.3496G>A (p.Asp1166Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679401G>CCA411636210CACNA1Ic.5350G>C (p.Asp1784His)
c.5245G>C (p.Asp1749His)
c.3496G>C (p.Asp1166His)
 gnomAD v4
22g.39679401G=CA2405415120CACNA1Ic.5350G= (p.Asp1784=)
c.5245G= (p.Asp1749=)
c.3496G= (p.Asp1166=)
22g.39679401G>TCA411636209CACNA1Ic.5350G>T (p.Asp1784Tyr)
c.5245G>T (p.Asp1749Tyr)
c.3496G>T (p.Asp1166Tyr)
22g.39679402A>CCA411636212CACNA1Ic.5351A>C (p.Asp1784Ala)
c.5246A>C (p.Asp1749Ala)
c.3497A>C (p.Asp1166Ala)
22g.39679402A>GCA411636214CACNA1Ic.5351A>G (p.Asp1784Gly)
c.5246A>G (p.Asp1749Gly)
c.3497A>G (p.Asp1166Gly)
22g.39679402A>TCA411636217CACNA1Ic.5351A>T (p.Asp1784Val)
c.5246A>T (p.Asp1749Val)
c.3497A>T (p.Asp1166Val)
22g.39679403C>ACA411636220CACNA1Ic.5352C>A (p.Asp1784Glu)
c.5247C>A (p.Asp1749Glu)
c.3498C>A (p.Asp1166Glu)
22g.39679403C=CA2405415121CACNA1Ic.5352C= (p.Asp1784=)
c.5247C= (p.Asp1749=)
c.3498C= (p.Asp1166=)
22g.39679403C>GCA411636222CACNA1Ic.5352C>G (p.Asp1784Glu)
c.5247C>G (p.Asp1749Glu)
c.3498C>G (p.Asp1166Glu)
 COSMIC COSMIC COSMIC COSMIC
22g.39679403C>TCA514787247CACNA1Ic.5352C>T (p.Asp1784=)
c.5247C>T (p.Asp1749=)
c.3498C>T (p.Asp1166=)
 dbSNP gnomAD v3 gnomAD v4
22g.39679404A>CCA411636226CACNA1Ic.5353A>C (p.Thr1785Pro)
c.5248A>C (p.Thr1750Pro)
c.3499A>C (p.Thr1167Pro)
22g.39679404A>GCA411636228CACNA1Ic.5353A>G (p.Thr1785Ala)
c.5248A>G (p.Thr1750Ala)
c.3499A>G (p.Thr1167Ala)
22g.39679404A>TCA411636231CACNA1Ic.5353A>T (p.Thr1785Ser)
c.5248A>T (p.Thr1750Ser)
c.3499A>T (p.Thr1167Ser)
22g.39679405C>ACA411636234CACNA1Ic.5354C>A (p.Thr1785Asn)
c.5249C>A (p.Thr1750Asn)
c.3500C>A (p.Thr1167Asn)
22g.39679405C=CA2405415122CACNA1Ic.5354C= (p.Thr1785=)
c.5249C= (p.Thr1750=)
c.3500C= (p.Thr1167=)
22g.39679405C>GCA411636235CACNA1Ic.5354C>G (p.Thr1785Ser)
c.5249C>G (p.Thr1750Ser)
c.3500C>G (p.Thr1167Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679405C>TCA411636236CACNA1Ic.5354C>T (p.Thr1785Ile)
c.5249C>T (p.Thr1750Ile)
c.3500C>T (p.Thr1167Ile)
 gnomAD v4
22g.39679406C>ACA514787249CACNA1Ic.5355C>A (p.Thr1785=)
c.5250C>A (p.Thr1750=)
c.3501C>A (p.Thr1167=)
 gnomAD v3 gnomAD v4
22g.39679406C=CA2405415123CACNA1Ic.5355C= (p.Thr1785=)
c.5250C= (p.Thr1750=)
c.3501C= (p.Thr1167=)
22g.39679406C>GCA514787248CACNA1Ic.5355C>G (p.Thr1785=)
c.5250C>G (p.Thr1750=)
c.3501C>G (p.Thr1167=)
 dbSNP gnomAD v4
22g.39679406C>TCA324410679CACNA1Ic.5355C>T (p.Thr1785=)
c.5250C>T (p.Thr1750=)
c.3501C>T (p.Thr1167=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679407G>ACA411636244CACNA1Ic.5356G>A (p.Glu1786Lys)
c.5251G>A (p.Glu1751Lys)
c.3502G>A (p.Glu1168Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.39679407G>CCA411636247CACNA1Ic.5356G>C (p.Glu1786Gln)
c.5251G>C (p.Glu1751Gln)
c.3502G>C (p.Glu1168Gln)
22g.39679407G=CA2405415124CACNA1Ic.5356G= (p.Glu1786=)
c.5251G= (p.Glu1751=)
c.3502G= (p.Glu1168=)
22g.39679407G>TCA411636241CACNA1Ic.5356G>T (p.Glu1786Ter)
c.5251G>T (p.Glu1751Ter)
c.3502G>T (p.Glu1168Ter)
 gnomAD v4

Number of alleles fetched