Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49222476A>CCA2693714877CACNA1Fc.2288+46T>G (n.2288+46T>G)
c.2126+46T>G (n.2126+46T>G)
c.2321+46T>G (n.2321+46T>G)
n.418+46T>G
 gnomAD v4
Xg.49222477G>ACA2693714878CACNA1Fc.2288+45C>T (n.2288+45C>T)
c.2126+45C>T (n.2126+45C>T)
c.2321+45C>T (n.2321+45C>T)
n.418+45C>T
 gnomAD v4
Xg.49222477G>CCA2693714879CACNA1Fc.2288+45C>G (n.2288+45C>G)
c.2126+45C>G (n.2126+45C>G)
c.2321+45C>G (n.2321+45C>G)
n.418+45C>G
 gnomAD v4
Xg.49222477G>TCA2693714880CACNA1Fc.2288+45C>A (n.2288+45C>A)
c.2126+45C>A (n.2126+45C>A)
c.2321+45C>A (n.2321+45C>A)
n.418+45C>A
 gnomAD v4
Xg.49222478G>TCA2693714884CACNA1Fc.2288+44C>A (n.2288+44C>A)
c.2126+44C>A (n.2126+44C>A)
c.2321+44C>A (n.2321+44C>A)
n.418+44C>A
 gnomAD v4
Xg.49222479G>ACA2820834117CACNA1Fc.2288+43C>T (n.2288+43C>T)
c.2126+43C>T (n.2126+43C>T)
c.2321+43C>T (n.2321+43C>T)
n.418+43C>T
Xg.49222480A>TCA2693714885CACNA1Fc.2288+42T>A (n.2288+42T>A)
c.2126+42T>A (n.2126+42T>A)
c.2321+42T>A (n.2321+42T>A)
n.418+42T>A
 gnomAD v4
Xg.49222481T>CCA2693714887CACNA1Fc.2288+41A>G (n.2288+41A>G)
c.2126+41A>G (n.2126+41A>G)
c.2321+41A>G (n.2321+41A>G)
n.418+41A>G
 gnomAD v4
Xg.49222482C>TCA2693714896CACNA1Fc.2288+40G>A (n.2288+40G>A)
c.2126+40G>A (n.2126+40G>A)
c.2321+40G>A (n.2321+40G>A)
n.418+40G>A
 gnomAD v4
Xg.49222484delCA2693714890CACNA1Fc.2288+40del (n.2288+40del)
c.2126+40del (n.2126+40del)
c.2321+40del (n.2321+40del)
n.418+40del
 gnomAD v4
Xg.49222483C>TCA2579607874CACNA1Fc.2288+39G>A (n.2288+39G>A)
c.2126+39G>A (n.2126+39G>A)
c.2321+39G>A (n.2321+39G>A)
n.418+39G>A
 gnomAD v4
Xg.49222484C=CA2428541603CACNA1Fc.2288+38G= (n.2288+38G=)
c.2126+38G= (n.2126+38G=)
c.2321+38G= (n.2321+38G=)
n.418+38G=
Xg.49222484C>TCA10410715CACNA1Fc.2288+38G>A (n.2288+38G>A)
c.2126+38G>A (n.2126+38G>A)
c.2321+38G>A (n.2321+38G>A)
n.418+38G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49222485A=CA2428541604CACNA1Fc.2288+37T= (n.2288+37T=)
c.2126+37T= (n.2126+37T=)
c.2321+37T= (n.2321+37T=)
n.418+37T=
Xg.49222485A>GCA641526361CACNA1Fc.2288+37T>C (n.2288+37T>C)
c.2126+37T>C (n.2126+37T>C)
c.2321+37T>C (n.2321+37T>C)
n.418+37T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.49222492_49222493delCA2693714906CACNA1Fc.2288+36_2288+37del (n.2288+36_2288+37del)
c.2126+36_2126+37del (n.2126+36_2126+37del)
c.2321+36_2321+37del (n.2321+36_2321+37del)
n.418+36_418+37del
 gnomAD v4
Xg.49222486G>CCA2428541606CACNA1Fc.2288+36C>G (n.2288+36C>G)
c.2126+36C>G (n.2126+36C>G)
c.2321+36C>G (n.2321+36C>G)
n.418+36C>G
 dbSNP
Xg.49222486G=CA2428541605CACNA1Fc.2288+36C= (n.2288+36C=)
c.2126+36C= (n.2126+36C=)
c.2321+36C= (n.2321+36C=)
n.418+36C=
Xg.49222486G>TCA2579607875CACNA1Fc.2288+36C>A (n.2288+36C>A)
c.2126+36C>A (n.2126+36C>A)
c.2321+36C>A (n.2321+36C>A)
n.418+36C>A
 gnomAD v4
Xg.49222488G>ACA2693714917CACNA1Fc.2288+34C>T (n.2288+34C>T)
c.2126+34C>T (n.2126+34C>T)
c.2321+34C>T (n.2321+34C>T)
n.418+34C>T
 gnomAD v4
Xg.49222488G>TCA2693714920CACNA1Fc.2288+34C>A (n.2288+34C>A)
c.2126+34C>A (n.2126+34C>A)
c.2321+34C>A (n.2321+34C>A)
n.418+34C>A
 gnomAD v4
Xg.49222490G>ACA2693714922CACNA1Fc.2288+32C>T (n.2288+32C>T)
c.2126+32C>T (n.2126+32C>T)
c.2321+32C>T (n.2321+32C>T)
n.418+32C>T
 gnomAD v4
Xg.49222490G>CCA2693714924CACNA1Fc.2288+32C>G (n.2288+32C>G)
c.2126+32C>G (n.2126+32C>G)
c.2321+32C>G (n.2321+32C>G)
n.418+32C>G
 gnomAD v4
Xg.49222490G>TCA2693714926CACNA1Fc.2288+32C>A (n.2288+32C>A)
c.2126+32C>A (n.2126+32C>A)
c.2321+32C>A (n.2321+32C>A)
n.418+32C>A
 gnomAD v4
Xg.49222492G>ACA2693714939CACNA1Fc.2288+30C>T (n.2288+30C>T)
c.2126+30C>T (n.2126+30C>T)
c.2321+30C>T (n.2321+30C>T)
n.418+30C>T
 gnomAD v4
Xg.49222492G>CCA641526362CACNA1Fc.2288+30C>G (n.2288+30C>G)
c.2126+30C>G (n.2126+30C>G)
c.2321+30C>G (n.2321+30C>G)
n.418+30C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.49222492G=CA2428541607CACNA1Fc.2288+30C= (n.2288+30C=)
c.2126+30C= (n.2126+30C=)
c.2321+30C= (n.2321+30C=)
n.418+30C=
Xg.49222492G>TCA2579607876CACNA1Fc.2288+30C>A (n.2288+30C>A)
c.2126+30C>A (n.2126+30C>A)
c.2321+30C>A (n.2321+30C>A)
n.418+30C>A
 gnomAD v4
Xg.49222493A=CA2428541608CACNA1Fc.2288+29T= (n.2288+29T=)
c.2126+29T= (n.2126+29T=)
c.2321+29T= (n.2321+29T=)
n.418+29T=
Xg.49222493A>CCA329121927CACNA1Fc.2288+29T>G (n.2288+29T>G)
c.2126+29T>G (n.2126+29T>G)
c.2321+29T>G (n.2321+29T>G)
n.418+29T>G
 dbSNP gnomAD v4
Xg.49222493A>GCA2693714947CACNA1Fc.2288+29T>C (n.2288+29T>C)
c.2126+29T>C (n.2126+29T>C)
c.2321+29T>C (n.2321+29T>C)
n.418+29T>C
 gnomAD v4
Xg.49222496G>TCA2693714953CACNA1Fc.2288+26C>A (n.2288+26C>A)
c.2126+26C>A (n.2126+26C>A)
c.2321+26C>A (n.2321+26C>A)
n.418+26C>A
 gnomAD v4
Xg.49222497T>ACA2693714958CACNA1Fc.2288+25A>T (n.2288+25A>T)
c.2126+25A>T (n.2126+25A>T)
c.2321+25A>T (n.2321+25A>T)
n.418+25A>T
 gnomAD v4
Xg.49222497T>CCA875953574CACNA1Fc.2288+25A>G (n.2288+25A>G)
c.2126+25A>G (n.2126+25A>G)
c.2321+25A>G (n.2321+25A>G)
n.418+25A>G
 dbSNP
Xg.49222497T=CA2428541609CACNA1Fc.2288+25A= (n.2288+25A=)
c.2126+25A= (n.2126+25A=)
c.2321+25A= (n.2321+25A=)
n.418+25A=
Xg.49222498G>ACA2693714962CACNA1Fc.2288+24C>T (n.2288+24C>T)
c.2126+24C>T (n.2126+24C>T)
c.2321+24C>T (n.2321+24C>T)
n.418+24C>T
 gnomAD v4
Xg.49222498G>TCA2693714965CACNA1Fc.2288+24C>A (n.2288+24C>A)
c.2126+24C>A (n.2126+24C>A)
c.2321+24C>A (n.2321+24C>A)
n.418+24C>A
 gnomAD v4
Xg.49222500delCA2579607877CACNA1Fc.2288+23del (n.2288+23del)
c.2126+23del (n.2126+23del)
c.2321+23del (n.2321+23del)
n.418+23del
Xg.49222500_49222501delinsTACA2428541610CACNA1Fc.2288+21_2288+22delinsTA (n.2288+21_2288+22delinsTA)
c.2126+21_2126+22delinsTA (n.2126+21_2126+22delinsTA)
c.2321+21_2321+22delinsTA (n.2321+21_2321+22delinsTA)
n.418+21_418+22delinsTA
Xg.49222501delCA1132998408CACNA1Fc.2288+21del (n.2288+21del)
c.2126+21del (n.2126+21del)
c.2321+21del (n.2321+21del)
n.418+21del
 dbSNP gnomAD v3 gnomAD v4
Xg.49222501_49222502delinsAGCA2428541611CACNA1Fc.2288+20_2288+21delinsCT (n.2288+20_2288+21delinsCT)
c.2126+20_2126+21delinsCT (n.2126+20_2126+21delinsCT)
c.2321+20_2321+21delinsCT (n.2321+20_2321+21delinsCT)
n.418+20_418+21delinsCT
Xg.49222502G>ACA10410716CACNA1Fc.2288+20C>T (n.2288+20C>T)
c.2126+20C>T (n.2126+20C>T)
c.2321+20C>T (n.2321+20C>T)
n.418+20C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49222502G>CCA329121942CACNA1Fc.2288+20C>G (n.2288+20C>G)
c.2126+20C>G (n.2126+20C>G)
c.2321+20C>G (n.2321+20C>G)
n.418+20C>G
 dbSNP
Xg.49222502G=CA2428541612CACNA1Fc.2288+20C= (n.2288+20C=)
c.2126+20C= (n.2126+20C=)
c.2321+20C= (n.2321+20C=)
n.418+20C=
Xg.49222502G>TCA2693714975CACNA1Fc.2288+20C>A (n.2288+20C>A)
c.2126+20C>A (n.2126+20C>A)
c.2321+20C>A (n.2321+20C>A)
n.418+20C>A
 gnomAD v4
Xg.49222505delCA1132998409CACNA1Fc.2288+20del (n.2288+20del)
c.2126+20del (n.2126+20del)
c.2321+20del (n.2321+20del)
n.418+20del
 dbSNP gnomAD v3 gnomAD v4
Xg.49222503G>ACA10410717CACNA1Fc.2288+19C>T (n.2288+19C>T)
c.2126+19C>T (n.2126+19C>T)
c.2321+19C>T (n.2321+19C>T)
n.418+19C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.49222503G=CA2428541613CACNA1Fc.2288+19C= (n.2288+19C=)
c.2126+19C= (n.2126+19C=)
c.2321+19C= (n.2321+19C=)
n.418+19C=
Xg.49222503G>TCA2579607878CACNA1Fc.2288+19C>A (n.2288+19C>A)
c.2126+19C>A (n.2126+19C>A)
c.2321+19C>A (n.2321+19C>A)
n.418+19C>A
 gnomAD v4
Xg.49222504G>ACA2693714987CACNA1Fc.2288+18C>T (n.2288+18C>T)
c.2126+18C>T (n.2126+18C>T)
c.2321+18C>T (n.2321+18C>T)
n.418+18C>T
 gnomAD v4
Xg.49222504G>CCA2693714989CACNA1Fc.2288+18C>G (n.2288+18C>G)
c.2126+18C>G (n.2126+18C>G)
c.2321+18C>G (n.2321+18C>G)
n.418+18C>G
 gnomAD v4
Xg.49222504G>TCA2693714992CACNA1Fc.2288+18C>A (n.2288+18C>A)
c.2126+18C>A (n.2126+18C>A)
c.2321+18C>A (n.2321+18C>A)
n.418+18C>A
 gnomAD v4
Xg.49222505G>ACA2428541615CACNA1Fc.2288+17C>T (n.2288+17C>T)
c.2126+17C>T (n.2126+17C>T)
c.2321+17C>T (n.2321+17C>T)
n.418+17C>T
 dbSNP gnomAD v4
Xg.49222505G=CA2428541614CACNA1Fc.2288+17C= (n.2288+17C=)
c.2126+17C= (n.2126+17C=)
c.2321+17C= (n.2321+17C=)
n.418+17C=
Xg.49222505G>TCA2693714995CACNA1Fc.2288+17C>A (n.2288+17C>A)
c.2126+17C>A (n.2126+17C>A)
c.2321+17C>A (n.2321+17C>A)
n.418+17C>A
 gnomAD v4
Xg.49222506T>CCA2428541617CACNA1Fc.2288+16A>G (n.2288+16A>G)
c.2126+16A>G (n.2126+16A>G)
c.2321+16A>G (n.2321+16A>G)
n.418+16A>G
 dbSNP
Xg.49222506T=CA2428541616CACNA1Fc.2288+16A= (n.2288+16A=)
c.2126+16A= (n.2126+16A=)
c.2321+16A= (n.2321+16A=)
n.418+16A=
Xg.49222508delCA2579607879CACNA1Fc.2288+15del (n.2288+15del)
c.2126+15del (n.2126+15del)
c.2321+15del (n.2321+15del)
n.418+15del
Xg.49222509A>GCA2579607880CACNA1Fc.2288+13T>C (n.2288+13T>C)
c.2126+13T>C (n.2126+13T>C)
c.2321+13T>C (n.2321+13T>C)
n.418+13T>C
 gnomAD v4
Xg.49222517C>ACA2695233583CACNA1Fc.2288+5G>T (n.2288+5G>T)
c.2126+5G>T (n.2126+5G>T)
c.2321+5G>T (n.2321+5G>T)
n.418+5G>T
Xg.49222517C>TCA2697553109CACNA1Fc.2288+5G>A (n.2288+5G>A)
c.2126+5G>A (n.2126+5G>A)
c.2321+5G>A (n.2321+5G>A)
n.418+5G>A
 ClinVar
Xg.49222519C>TCA2693715006CACNA1Fc.2288+3G>A (n.2288+3G>A)
c.2126+3G>A (n.2126+3G>A)
c.2321+3G>A (n.2321+3G>A)
n.418+3G>A
 gnomAD v4
Xg.49222520A>CCA412909283CACNA1Fc.2288+2T>G (n.2288+2T>G)
c.2126+2T>G (n.2126+2T>G)
c.2321+2T>G (n.2321+2T>G)
n.418+2T>G
Xg.49222520A>GCA412909270CACNA1Fc.2288+2T>C (n.2288+2T>C)
c.2126+2T>C (n.2126+2T>C)
c.2321+2T>C (n.2321+2T>C)
n.418+2T>C
Xg.49222520A>TCA412909253CACNA1Fc.2288+2T>A (n.2288+2T>A)
c.2126+2T>A (n.2126+2T>A)
c.2321+2T>A (n.2321+2T>A)
n.418+2T>A
Xg.49222521C>ACA412909284CACNA1Fc.2288+1G>T (n.2288+1G>T)
c.2126+1G>T (n.2126+1G>T)
c.2321+1G>T (n.2321+1G>T)
n.418+1G>T
Xg.49222521C>GCA412909285CACNA1Fc.2288+1G>C (n.2288+1G>C)
c.2126+1G>C (n.2126+1G>C)
c.2321+1G>C (n.2321+1G>C)
n.418+1G>C
Xg.49222521C>TCA412909286CACNA1Fc.2288+1G>A (n.2288+1G>A)
c.2126+1G>A (n.2126+1G>A)
c.2321+1G>A (n.2321+1G>A)
n.418+1G>A
Xg.49222522C>ACA412909290CACNA1Fc.2288G>T (p.Gly763Val)
c.2126G>T (p.Gly709Val)
c.2321G>T (p.Gly774Val)
n.418G>T
Xg.49222522C>GCA412909299CACNA1Fc.2288G>C (p.Gly763Ala)
c.2126G>C (p.Gly709Ala)
c.2321G>C (p.Gly774Ala)
n.418G>C
Xg.49222522C>TCA412909304CACNA1Fc.2288G>A (p.Gly763Glu)
c.2126G>A (p.Gly709Glu)
c.2321G>A (p.Gly774Glu)
n.418G>A
 gnomAD v4
Xg.49222523C>ACA412909310CACNA1Fc.2287G>T (p.Gly763Trp)
c.2125G>T (p.Gly709Trp)
c.2320G>T (p.Gly774Trp)
n.417G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.49222523C=CA2428541618CACNA1Fc.2287G= (p.Gly763=)
c.2125G= (p.Gly709=)
c.2320G= (p.Gly774=)
n.417G=
Xg.49222523C>GCA412909313CACNA1Fc.2287G>C (p.Gly763Arg)
c.2125G>C (p.Gly709Arg)
c.2320G>C (p.Gly774Arg)
n.417G>C
Xg.49222523C>TCA10410718CACNA1Fc.2287G>A (p.Gly763Arg)
c.2125G>A (p.Gly709Arg)
c.2320G>A (p.Gly774Arg)
n.417G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49222524G>ACA516378294CACNA1Fc.2286C>T (p.Gly762=)
c.2124C>T (p.Gly708=)
c.2319C>T (p.Gly773=)
n.416C>T
 gnomAD v4
Xg.49222524G>CCA516378292CACNA1Fc.2286C>G (p.Gly762=)
c.2124C>G (p.Gly708=)
c.2319C>G (p.Gly773=)
n.416C>G
 gnomAD v4
Xg.49222524G>TCA516378293CACNA1Fc.2286C>A (p.Gly762=)
c.2124C>A (p.Gly708=)
c.2319C>A (p.Gly773=)
n.416C>A
Xg.49222525C>ACA412909326CACNA1Fc.2285G>T (p.Gly762Val)
c.2123G>T (p.Gly708Val)
c.2318G>T (p.Gly773Val)
n.415G>T
Xg.49222525C>GCA412909327CACNA1Fc.2285G>C (p.Gly762Ala)
c.2123G>C (p.Gly708Ala)
c.2318G>C (p.Gly773Ala)
n.415G>C
Xg.49222525C>TCA412909332CACNA1Fc.2285G>A (p.Gly762Asp)
c.2123G>A (p.Gly708Asp)
c.2318G>A (p.Gly773Asp)
n.415G>A
Xg.49222526C>ACA412909342CACNA1Fc.2284G>T (p.Gly762Cys)
c.2122G>T (p.Gly708Cys)
c.2317G>T (p.Gly773Cys)
n.414G>T
Xg.49222526C>GCA412909338CACNA1Fc.2284G>C (p.Gly762Arg)
c.2122G>C (p.Gly708Arg)
c.2317G>C (p.Gly773Arg)
n.414G>C
Xg.49222526C>TCA412909337CACNA1Fc.2284G>A (p.Gly762Ser)
c.2122G>A (p.Gly708Ser)
c.2317G>A (p.Gly773Ser)
n.414G>A
Xg.49222527C>ACA412909351CACNA1Fc.2283G>T (p.Lys761Asn)
c.2121G>T (p.Lys707Asn)
c.2316G>T (p.Lys772Asn)
n.413G>T
 dbSNP
Xg.49222527C=CA2428541619CACNA1Fc.2283G= (p.Lys761=)
c.2121G= (p.Lys707=)
c.2316G= (p.Lys772=)
n.413G=
Xg.49222527C>GCA412909355CACNA1Fc.2283G>C (p.Lys761Asn)
c.2121G>C (p.Lys707Asn)
c.2316G>C (p.Lys772Asn)
n.413G>C
Xg.49222527C>TCA10410719CACNA1Fc.2283G>A (p.Lys761=)
c.2121G>A (p.Lys707=)
c.2316G>A (p.Lys772=)
n.413G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49222527_49222529delCA2579607881CACNA1Fc.2281_2283del (p.Lys761del)
c.2119_2121del (p.Lys707del)
c.2314_2316del (p.Lys772del)
n.411_413del
Xg.49222528T>ACA412909366CACNA1Fc.2282A>T (p.Lys761Met)
c.2120A>T (p.Lys707Met)
c.2315A>T (p.Lys772Met)
n.412A>T
Xg.49222528T>CCA412909369CACNA1Fc.2282A>G (p.Lys761Arg)
c.2120A>G (p.Lys707Arg)
c.2315A>G (p.Lys772Arg)
n.412A>G
Xg.49222528T>GCA412909373CACNA1Fc.2282A>C (p.Lys761Thr)
c.2120A>C (p.Lys707Thr)
c.2315A>C (p.Lys772Thr)
n.412A>C
Xg.49222529T>ACA412909377CACNA1Fc.2281A>T (p.Lys761Ter)
c.2119A>T (p.Lys707Ter)
c.2314A>T (p.Lys772Ter)
n.411A>T
Xg.49222529T>CCA412909380CACNA1Fc.2281A>G (p.Lys761Glu)
c.2119A>G (p.Lys707Glu)
c.2314A>G (p.Lys772Glu)
n.411A>G
Xg.49222529T>GCA412909383CACNA1Fc.2281A>C (p.Lys761Gln)
c.2119A>C (p.Lys707Gln)
c.2314A>C (p.Lys772Gln)
n.411A>C
Xg.49222530G>ACA516378301CACNA1Fc.2280C>T (p.Asp760=)
c.2118C>T (p.Asp706=)
c.2313C>T (p.Asp771=)
n.410C>T
Xg.49222530G>CCA412909384CACNA1Fc.2280C>G (p.Asp760Glu)
c.2118C>G (p.Asp706Glu)
c.2313C>G (p.Asp771Glu)
n.410C>G
Xg.49222530G>TCA412909386CACNA1Fc.2280C>A (p.Asp760Glu)
c.2118C>A (p.Asp706Glu)
c.2313C>A (p.Asp771Glu)
n.410C>A
 gnomAD v4
Xg.49222531T>ACA412909389CACNA1Fc.2279A>T (p.Asp760Val)
c.2117A>T (p.Asp706Val)
c.2312A>T (p.Asp771Val)
n.409A>T
Xg.49222531T>CCA412909394CACNA1Fc.2279A>G (p.Asp760Gly)
c.2117A>G (p.Asp706Gly)
c.2312A>G (p.Asp771Gly)
n.409A>G
Xg.49222531T>GCA412909392CACNA1Fc.2279A>C (p.Asp760Ala)
c.2117A>C (p.Asp706Ala)
c.2312A>C (p.Asp771Ala)
n.409A>C
Xg.49222532C>ACA412909399CACNA1Fc.2278G>T (p.Asp760Tyr)
c.2116G>T (p.Asp706Tyr)
c.2311G>T (p.Asp771Tyr)
n.408G>T
Xg.49222532C=CA2428541620CACNA1Fc.2278G= (p.Asp760=)
c.2116G= (p.Asp706=)
c.2311G= (p.Asp771=)
n.408G=
Xg.49222532C>GCA412909401CACNA1Fc.2278G>C (p.Asp760His)
c.2116G>C (p.Asp706His)
c.2311G>C (p.Asp771His)
n.408G>C
Xg.49222532C>TCA10410720CACNA1Fc.2278G>A (p.Asp760Asn)
c.2116G>A (p.Asp706Asn)
c.2311G>A (p.Asp771Asn)
n.408G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49222533C>ACA412909406CACNA1Fc.2277G>T (p.Lys759Asn)
c.2115G>T (p.Lys705Asn)
c.2310G>T (p.Lys770Asn)
n.407G>T
Xg.49222533C>GCA412909409CACNA1Fc.2277G>C (p.Lys759Asn)
c.2115G>C (p.Lys705Asn)
c.2310G>C (p.Lys770Asn)
n.407G>C
Xg.49222533C>TCA516378304CACNA1Fc.2277G>A (p.Lys759=)
c.2115G>A (p.Lys705=)
c.2310G>A (p.Lys770=)
n.407G>A
Xg.49222534T>ACA412909416CACNA1Fc.2276A>T (p.Lys759Met)
c.2114A>T (p.Lys705Met)
c.2309A>T (p.Lys770Met)
n.406A>T
Xg.49222534T>CCA412909420CACNA1Fc.2276A>G (p.Lys759Arg)
c.2114A>G (p.Lys705Arg)
c.2309A>G (p.Lys770Arg)
n.406A>G
Xg.49222534T>GCA412909418CACNA1Fc.2276A>C (p.Lys759Thr)
c.2114A>C (p.Lys705Thr)
c.2309A>C (p.Lys770Thr)
n.406A>C
Xg.49222535T>ACA412909423CACNA1Fc.2275A>T (p.Lys759Ter)
c.2113A>T (p.Lys705Ter)
c.2308A>T (p.Lys770Ter)
n.405A>T
Xg.49222535T>CCA412909432CACNA1Fc.2275A>G (p.Lys759Glu)
c.2113A>G (p.Lys705Glu)
c.2308A>G (p.Lys770Glu)
n.405A>G
Xg.49222535T>GCA412909434CACNA1Fc.2275A>C (p.Lys759Gln)
c.2113A>C (p.Lys705Gln)
c.2308A>C (p.Lys770Gln)
n.405A>C
Xg.49222536G>ACA516378306CACNA1Fc.2274C>T (p.Ala758=)
c.2112C>T (p.Ala704=)
c.2307C>T (p.Ala769=)
n.404C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.49222536G>CCA516378307CACNA1Fc.2274C>G (p.Ala758=)
c.2112C>G (p.Ala704=)
c.2307C>G (p.Ala769=)
n.404C>G
Xg.49222536G=CA2428541621CACNA1Fc.2274C= (p.Ala758=)
c.2112C= (p.Ala704=)
c.2307C= (p.Ala769=)
n.404C=
Xg.49222536G>TCA516378308CACNA1Fc.2274C>A (p.Ala758=)
c.2112C>A (p.Ala704=)
c.2307C>A (p.Ala769=)
n.404C>A
 gnomAD v4
Xg.49222537_49222540delCA2579607882CACNA1Fc.2271_2274del (p.Ala758ArgfsTer?)
c.2109_2112del (p.Ala704ArgfsTer?)
c.2304_2307del (p.Ala769ArgfsTer?)
n.401_404del
Xg.49222537G>ACA412909436CACNA1Fc.2273C>T (p.Ala758Val)
c.2111C>T (p.Ala704Val)
c.2306C>T (p.Ala769Val)
n.403C>T
 gnomAD v4
Xg.49222537G>CCA412909438CACNA1Fc.2273C>G (p.Ala758Gly)
c.2111C>G (p.Ala704Gly)
c.2306C>G (p.Ala769Gly)
n.403C>G
Xg.49222537G>TCA412909441CACNA1Fc.2273C>A (p.Ala758Asp)
c.2111C>A (p.Ala704Asp)
c.2306C>A (p.Ala769Asp)
n.403C>A
Xg.49222538C>ACA412909446CACNA1Fc.2272G>T (p.Ala758Ser)
c.2110G>T (p.Ala704Ser)
c.2305G>T (p.Ala769Ser)
n.402G>T
Xg.49222538C>GCA412909447CACNA1Fc.2272G>C (p.Ala758Pro)
c.2110G>C (p.Ala704Pro)
c.2305G>C (p.Ala769Pro)
n.402G>C
Xg.49222538C>TCA412909448CACNA1Fc.2272G>A (p.Ala758Thr)
c.2110G>A (p.Ala704Thr)
c.2305G>A (p.Ala769Thr)
n.402G>A
Xg.49222539A=CA2428541622CACNA1Fc.2271T= (p.Thr757=)
c.2109T= (p.Thr703=)
c.2304T= (p.Thr768=)
n.401T=
Xg.49222539A>CCA516378312CACNA1Fc.2271T>G (p.Thr757=)
c.2109T>G (p.Thr703=)
c.2304T>G (p.Thr768=)
n.401T>G
Xg.49222539A>GCA516378314CACNA1Fc.2271T>C (p.Thr757=)
c.2109T>C (p.Thr703=)
c.2304T>C (p.Thr768=)
n.401T>C
 dbSNP
Xg.49222539A>TCA516378313CACNA1Fc.2271T>A (p.Thr757=)
c.2109T>A (p.Thr703=)
c.2304T>A (p.Thr768=)
n.401T>A
Xg.49222540G>ACA412909449CACNA1Fc.2270C>T (p.Thr757Ile)
c.2108C>T (p.Thr703Ile)
c.2303C>T (p.Thr768Ile)
n.400C>T
 COSMIC
Xg.49222540G>CCA412909450CACNA1Fc.2270C>G (p.Thr757Ser)
c.2108C>G (p.Thr703Ser)
c.2303C>G (p.Thr768Ser)
n.400C>G
Xg.49222540G>TCA412909453CACNA1Fc.2270C>A (p.Thr757Asn)
c.2108C>A (p.Thr703Asn)
c.2303C>A (p.Thr768Asn)
n.400C>A
Xg.49222541T>ACA412909455CACNA1Fc.2269A>T (p.Thr757Ser)
c.2107A>T (p.Thr703Ser)
c.2302A>T (p.Thr768Ser)
n.399A>T
Xg.49222541T>CCA412909457CACNA1Fc.2269A>G (p.Thr757Ala)
c.2107A>G (p.Thr703Ala)
c.2302A>G (p.Thr768Ala)
n.399A>G
Xg.49222541T>GCA412909456CACNA1Fc.2269A>C (p.Thr757Pro)
c.2107A>C (p.Thr703Pro)
c.2302A>C (p.Thr768Pro)
n.399A>C
Xg.49222542G>ACA516378315CACNA1Fc.2268C>T (p.Gly756=)
c.2106C>T (p.Gly702=)
c.2301C>T (p.Gly767=)
n.398C>T
Xg.49222542G>CCA516378316CACNA1Fc.2268C>G (p.Gly756=)
c.2106C>G (p.Gly702=)
c.2301C>G (p.Gly767=)
n.398C>G
Xg.49222542G>TCA516378317CACNA1Fc.2268C>A (p.Gly756=)
c.2106C>A (p.Gly702=)
c.2301C>A (p.Gly767=)
n.398C>A
Xg.49222542_49222544delCA2530890097CACNA1Fc.2266_2268del (p.Gly756del)
c.2104_2106del (p.Gly702del)
c.2299_2301del (p.Gly767del)
n.396_398del
Xg.49222543C>ACA412909459CACNA1Fc.2267G>T (p.Gly756Val)
c.2105G>T (p.Gly702Val)
c.2300G>T (p.Gly767Val)
n.397G>T
Xg.49222543C>GCA412909461CACNA1Fc.2267G>C (p.Gly756Ala)
c.2105G>C (p.Gly702Ala)
c.2300G>C (p.Gly767Ala)
n.397G>C
Xg.49222543C>TCA412909465CACNA1Fc.2267G>A (p.Gly756Asp)
c.2105G>A (p.Gly702Asp)
c.2300G>A (p.Gly767Asp)
n.397G>A
Xg.49222544C>ACA412909468CACNA1Fc.2266G>T (p.Gly756Cys)
c.2104G>T (p.Gly702Cys)
c.2299G>T (p.Gly767Cys)
n.396G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.49222544C=CA2428541623CACNA1Fc.2266G= (p.Gly756=)
c.2104G= (p.Gly702=)
c.2299G= (p.Gly767=)
n.396G=
Xg.49222544C>GCA412909469CACNA1Fc.2266G>C (p.Gly756Arg)
c.2104G>C (p.Gly702Arg)
c.2299G>C (p.Gly767Arg)
n.396G>C
Xg.49222544C>TCA412909473CACNA1Fc.2266G>A (p.Gly756Ser)
c.2104G>A (p.Gly702Ser)
c.2299G>A (p.Gly767Ser)
n.396G>A
Xg.49222545T>ACA516378318CACNA1Fc.2265A>T (p.Ala755=)
c.2103A>T (p.Ala701=)
c.2298A>T (p.Ala766=)
n.395A>T
Xg.49222545T>CCA516378319CACNA1Fc.2265A>G (p.Ala755=)
c.2103A>G (p.Ala701=)
c.2298A>G (p.Ala766=)
n.395A>G
 gnomAD v4
Xg.49222545T>GCA516378321CACNA1Fc.2265A>C (p.Ala755=)
c.2103A>C (p.Ala701=)
c.2298A>C (p.Ala766=)
n.395A>C
Xg.49222546G>ACA412909482CACNA1Fc.2264C>T (p.Ala755Val)
c.2102C>T (p.Ala701Val)
c.2297C>T (p.Ala766Val)
n.394C>T
Xg.49222546G>CCA412909476CACNA1Fc.2264C>G (p.Ala755Gly)
c.2102C>G (p.Ala701Gly)
c.2297C>G (p.Ala766Gly)
n.394C>G
Xg.49222546G>TCA412909478CACNA1Fc.2264C>A (p.Ala755Glu)
c.2102C>A (p.Ala701Glu)
c.2297C>A (p.Ala766Glu)
n.394C>A
Xg.49222547C>ACA412909485CACNA1Fc.2263G>T (p.Ala755Ser)
c.2101G>T (p.Ala701Ser)
c.2296G>T (p.Ala766Ser)
n.393G>T
Xg.49222547C>GCA412909486CACNA1Fc.2263G>C (p.Ala755Pro)
c.2101G>C (p.Ala701Pro)
c.2296G>C (p.Ala766Pro)
n.393G>C
Xg.49222547C>TCA412909487CACNA1Fc.2263G>A (p.Ala755Thr)
c.2101G>A (p.Ala701Thr)
c.2296G>A (p.Ala766Thr)
n.393G>A
 gnomAD v4
Xg.49222548A>CCA412909489CACNA1Fc.2262T>G (p.Asp754Glu)
c.2100T>G (p.Asp700Glu)
c.2295T>G (p.Asp765Glu)
n.392T>G
Xg.49222548A>GCA516378323CACNA1Fc.2262T>C (p.Asp754=)
c.2100T>C (p.Asp700=)
c.2295T>C (p.Asp765=)
n.392T>C
Xg.49222548A>TCA412909490CACNA1Fc.2262T>A (p.Asp754Glu)
c.2100T>A (p.Asp700Glu)
c.2295T>A (p.Asp765Glu)
n.392T>A
Xg.49222549delCA2570117585CACNA1Fc.2261del (p.Asp754ValfsTer?)
c.2099del (p.Asp700ValfsTer?)
c.2294del (p.Asp765ValfsTer?)
n.391del
Xg.49222549T>ACA412909503CACNA1Fc.2261A>T (p.Asp754Val)
c.2099A>T (p.Asp700Val)
c.2294A>T (p.Asp765Val)
n.391A>T
Xg.49222549T>CCA412909511CACNA1Fc.2261A>G (p.Asp754Gly)
c.2099A>G (p.Asp700Gly)
c.2294A>G (p.Asp765Gly)
n.391A>G
Xg.49222549T>GCA412909507CACNA1Fc.2261A>C (p.Asp754Ala)
c.2099A>C (p.Asp700Ala)
c.2294A>C (p.Asp765Ala)
n.391A>C
Xg.49222550C>ACA412909514CACNA1Fc.2260G>T (p.Asp754Tyr)
c.2098G>T (p.Asp700Tyr)
c.2293G>T (p.Asp765Tyr)
n.390G>T
Xg.49222550C>GCA412909516CACNA1Fc.2260G>C (p.Asp754His)
c.2098G>C (p.Asp700His)
c.2293G>C (p.Asp765His)
n.390G>C
Xg.49222550C>TCA412909519CACNA1Fc.2260G>A (p.Asp754Asn)
c.2098G>A (p.Asp700Asn)
c.2293G>A (p.Asp765Asn)
n.390G>A
 gnomAD v4
Xg.49222551delCA2553896756CACNA1Fc.2259del (p.Asp754MetfsTer?)
c.2097del (p.Asp700MetfsTer?)
c.2292del (p.Asp765MetfsTer?)
n.389del
Xg.49222551T>ACA516378326CACNA1Fc.2259A>T (p.Gly753=)
c.2097A>T (p.Gly699=)
c.2292A>T (p.Gly764=)
n.389A>T
Xg.49222551T>CCA516378327CACNA1Fc.2259A>G (p.Gly753=)
c.2097A>G (p.Gly699=)
c.2292A>G (p.Gly764=)
n.389A>G
Xg.49222551T>GCA516378328CACNA1Fc.2259A>C (p.Gly753=)
c.2097A>C (p.Gly699=)
c.2292A>C (p.Gly764=)
n.389A>C
Xg.49222552C>ACA412909525CACNA1Fc.2258G>T (p.Gly753Val)
c.2096G>T (p.Gly699Val)
c.2291G>T (p.Gly764Val)
n.388G>T
Xg.49222552C>GCA412909526CACNA1Fc.2258G>C (p.Gly753Ala)
c.2096G>C (p.Gly699Ala)
c.2291G>C (p.Gly764Ala)
n.388G>C
Xg.49222552C>TCA412909530CACNA1Fc.2258G>A (p.Gly753Glu)
c.2096G>A (p.Gly699Glu)
c.2291G>A (p.Gly764Glu)
n.388G>A
Xg.49222553C>ACA412909532CACNA1Fc.2257G>T (p.Gly753Ter)
c.2095G>T (p.Gly699Ter)
c.2290G>T (p.Gly764Ter)
n.387G>T
Xg.49222553C>GCA412909533CACNA1Fc.2257G>C (p.Gly753Arg)
c.2095G>C (p.Gly699Arg)
c.2290G>C (p.Gly764Arg)
n.387G>C
Xg.49222553C>TCA412909534CACNA1Fc.2257G>A (p.Gly753Arg)
c.2095G>A (p.Gly699Arg)
c.2290G>A (p.Gly764Arg)
n.387G>A
 gnomAD v4
Xg.49222554A>CCA412909535CACNA1Fc.2256T>G (p.Ser752Arg)
c.2094T>G (p.Ser698Arg)
c.2289T>G (p.Ser763Arg)
n.386T>G
Xg.49222554A>GCA516378330CACNA1Fc.2256T>C (p.Ser752=)
c.2094T>C (p.Ser698=)
c.2289T>C (p.Ser763=)
n.386T>C
Xg.49222554A>TCA412909537CACNA1Fc.2256T>A (p.Ser752Arg)
c.2094T>A (p.Ser698Arg)
c.2289T>A (p.Ser763Arg)
n.386T>A
Xg.49222555C>ACA412909541CACNA1Fc.2255G>T (p.Ser752Ile)
c.2093G>T (p.Ser698Ile)
c.2288G>T (p.Ser763Ile)
n.385G>T
 COSMIC
Xg.49222555C>GCA412909552CACNA1Fc.2255G>C (p.Ser752Thr)
c.2093G>C (p.Ser698Thr)
c.2288G>C (p.Ser763Thr)
n.385G>C
Xg.49222555C>TCA412909544CACNA1Fc.2255G>A (p.Ser752Asn)
c.2093G>A (p.Ser698Asn)
c.2288G>A (p.Ser763Asn)
n.385G>A
Xg.49222555_49222556delCA2566770688CACNA1Fc.2254_2255del (p.Ser752TrpfsTer16)
c.2092_2093del (p.Ser698TrpfsTer16)
c.2287_2288del (p.Ser763TrpfsTer16)
n.384_385del
Xg.49222556T>ACA412909556CACNA1Fc.2254A>T (p.Ser752Cys)
c.2092A>T (p.Ser698Cys)
c.2287A>T (p.Ser763Cys)
n.384A>T
Xg.49222556T>CCA412909563CACNA1Fc.2254A>G (p.Ser752Gly)
c.2092A>G (p.Ser698Gly)
c.2287A>G (p.Ser763Gly)
n.384A>G
Xg.49222556T>GCA412909558CACNA1Fc.2254A>C (p.Ser752Arg)
c.2092A>C (p.Ser698Arg)
c.2287A>C (p.Ser763Arg)
n.384A>C
Xg.49222557G>ACA516378332CACNA1Fc.2253C>T (p.Ala751=)
c.2091C>T (p.Ala697=)
c.2286C>T (p.Ala762=)
n.383C>T
Xg.49222557G>CCA516378333CACNA1Fc.2253C>G (p.Ala751=)
c.2091C>G (p.Ala697=)
c.2286C>G (p.Ala762=)
n.383C>G
Xg.49222557G=CA2428541624CACNA1Fc.2253C= (p.Ala751=)
c.2091C= (p.Ala697=)
c.2286C= (p.Ala762=)
n.383C=
Xg.49222557G>TCA516378334CACNA1Fc.2253C>A (p.Ala751=)
c.2091C>A (p.Ala697=)
c.2286C>A (p.Ala762=)
n.383C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.49222558G>ACA412909568CACNA1Fc.2252C>T (p.Ala751Val)
c.2090C>T (p.Ala697Val)
c.2285C>T (p.Ala762Val)
n.382C>T
 gnomAD v4
Xg.49222558G>CCA412909571CACNA1Fc.2252C>G (p.Ala751Gly)
c.2090C>G (p.Ala697Gly)
c.2285C>G (p.Ala762Gly)
n.382C>G
Xg.49222558G>TCA412909572CACNA1Fc.2252C>A (p.Ala751Asp)
c.2090C>A (p.Ala697Asp)
c.2285C>A (p.Ala762Asp)
n.382C>A
Xg.49222559C>ACA412909573CACNA1Fc.2251G>T (p.Ala751Ser)
c.2089G>T (p.Ala697Ser)
c.2284G>T (p.Ala762Ser)
n.381G>T
Xg.49222559C=CA2428541625CACNA1Fc.2251G= (p.Ala751=)
c.2089G= (p.Ala697=)
c.2284G= (p.Ala762=)
n.381G=
Xg.49222559C>GCA412909574CACNA1Fc.2251G>C (p.Ala751Pro)
c.2089G>C (p.Ala697Pro)
c.2284G>C (p.Ala762Pro)
n.381G>C
Xg.49222559C>TCA412909575CACNA1Fc.2251G>A (p.Ala751Thr)
c.2089G>A (p.Ala697Thr)
c.2284G>A (p.Ala762Thr)
n.381G>A
 dbSNP gnomAD v4
Xg.49222560C>ACA516378336CACNA1Fc.2250G>T (p.Leu750=)
c.2088G>T (p.Leu696=)
c.2283G>T (p.Leu761=)
n.380G>T
Xg.49222560C>GCA516378338CACNA1Fc.2250G>C (p.Leu750=)
c.2088G>C (p.Leu696=)
c.2283G>C (p.Leu761=)
n.380G>C
Xg.49222560C>TCA516378337CACNA1Fc.2250G>A (p.Leu750=)
c.2088G>A (p.Leu696=)
c.2283G>A (p.Leu761=)
n.380G>A
Xg.49222561A>CCA412909576CACNA1Fc.2249T>G (p.Leu750Arg)
c.2087T>G (p.Leu696Arg)
c.2282T>G (p.Leu761Arg)
n.379T>G
Xg.49222561A>GCA412909579CACNA1Fc.2249T>C (p.Leu750Pro)
c.2087T>C (p.Leu696Pro)
c.2282T>C (p.Leu761Pro)
n.379T>C
Xg.49222561A>TCA412909588CACNA1Fc.2249T>A (p.Leu750Gln)
c.2087T>A (p.Leu696Gln)
c.2282T>A (p.Leu761Gln)
n.379T>A
Xg.49222561_49222562insATACCA2550193933CACNA1Fc.2248_2249insGTAT (p.Leu750ArgfsTer20)
c.2086_2087insGTAT (p.Leu696ArgfsTer20)
c.2281_2282insGTAT (p.Leu761ArgfsTer20)
n.378_379insGTAT
Xg.49222562G>ACA516378342CACNA1Fc.2248C>T (p.Leu750=)
c.2086C>T (p.Leu696=)
c.2281C>T (p.Leu761=)
n.378C>T
 COSMIC
Xg.49222562G>CCA412909592CACNA1Fc.2248C>G (p.Leu750Val)
c.2086C>G (p.Leu696Val)
c.2281C>G (p.Leu761Val)
n.378C>G
Xg.49222562G>TCA412909597CACNA1Fc.2248C>A (p.Leu750Met)
c.2086C>A (p.Leu696Met)
c.2281C>A (p.Leu761Met)
n.378C>A
Xg.49222563G>ACA516378343CACNA1Fc.2247C>T (p.Asn749=)
c.2085C>T (p.Asn695=)
c.2280C>T (p.Asn760=)
n.377C>T
Xg.49222563G>CCA412909601CACNA1Fc.2247C>G (p.Asn749Lys)
c.2085C>G (p.Asn695Lys)
c.2280C>G (p.Asn760Lys)
n.377C>G
Xg.49222563G>TCA412909600CACNA1Fc.2247C>A (p.Asn749Lys)
c.2085C>A (p.Asn695Lys)
c.2280C>A (p.Asn760Lys)
n.377C>A
Xg.49222564T>ACA412909603CACNA1Fc.2246A>T (p.Asn749Ile)
c.2084A>T (p.Asn695Ile)
c.2279A>T (p.Asn760Ile)
n.376A>T
Xg.49222564T>CCA412909610CACNA1Fc.2246A>G (p.Asn749Ser)
c.2084A>G (p.Asn695Ser)
c.2279A>G (p.Asn760Ser)
n.376A>G
 ClinVar gnomAD v4
Xg.49222564T>GCA412909613CACNA1Fc.2246A>C (p.Asn749Thr)
c.2084A>C (p.Asn695Thr)
c.2279A>C (p.Asn760Thr)
n.376A>C
Xg.49222565T>ACA412909614CACNA1Fc.2245A>T (p.Asn749Tyr)
c.2083A>T (p.Asn695Tyr)
c.2278A>T (p.Asn760Tyr)
n.375A>T
Xg.49222565T>CCA412909615CACNA1Fc.2245A>G (p.Asn749Asp)
c.2083A>G (p.Asn695Asp)
c.2278A>G (p.Asn760Asp)
n.375A>G
Xg.49222565T>GCA412909617CACNA1Fc.2245A>C (p.Asn749His)
c.2083A>C (p.Asn695His)
c.2278A>C (p.Asn760His)
n.375A>C
Xg.49222566G>ACA516378346CACNA1Fc.2244C>T (p.Asp748=)
c.2082C>T (p.Asp694=)
c.2277C>T (p.Asp759=)
n.374C>T
Xg.49222566G>CCA412909620CACNA1Fc.2244C>G (p.Asp748Glu)
c.2082C>G (p.Asp694Glu)
c.2277C>G (p.Asp759Glu)
n.374C>G
Xg.49222566G>TCA412909623CACNA1Fc.2244C>A (p.Asp748Glu)
c.2082C>A (p.Asp694Glu)
c.2277C>A (p.Asp759Glu)
n.374C>A
Xg.49222566_49222567insGTGGCA2525861714CACNA1Fc.2244_2245insCACC (p.Asn749HisfsTer21)
c.2082_2083insCACC (p.Asn695HisfsTer21)
c.2277_2278insCACC (p.Asn760HisfsTer21)
n.374_375insCACC
Xg.49222567T>ACA412909627CACNA1Fc.2243A>T (p.Asp748Val)
c.2081A>T (p.Asp694Val)
c.2276A>T (p.Asp759Val)
n.373A>T
Xg.49222567T>CCA412909633CACNA1Fc.2243A>G (p.Asp748Gly)
c.2081A>G (p.Asp694Gly)
c.2276A>G (p.Asp759Gly)
n.373A>G
Xg.49222567T>GCA412909637CACNA1Fc.2243A>C (p.Asp748Ala)
c.2081A>C (p.Asp694Ala)
c.2276A>C (p.Asp759Ala)
n.373A>C
Xg.49222568C>ACA412909654CACNA1Fc.2242G>T (p.Asp748Tyr)
c.2080G>T (p.Asp694Tyr)
c.2275G>T (p.Asp759Tyr)
n.372G>T
 gnomAD v4
Xg.49222568C>GCA412909658CACNA1Fc.2242G>C (p.Asp748His)
c.2080G>C (p.Asp694His)
c.2275G>C (p.Asp759His)
n.372G>C
Xg.49222568C>TCA412909646CACNA1Fc.2242G>A (p.Asp748Asn)
c.2080G>A (p.Asp694Asn)
c.2275G>A (p.Asp759Asn)
n.372G>A
 COSMIC
Xg.49222569C>ACA516378348CACNA1Fc.2241G>T (p.Val747=)
c.2079G>T (p.Val693=)
c.2274G>T (p.Val758=)
n.371G>T
Xg.49222569C>GCA516378349CACNA1Fc.2241G>C (p.Val747=)
c.2079G>C (p.Val693=)
c.2274G>C (p.Val758=)
n.371G>C
Xg.49222569C>TCA516378350CACNA1Fc.2241G>A (p.Val747=)
c.2079G>A (p.Val693=)
c.2274G>A (p.Val758=)
n.371G>A
Xg.49222569_49222576delCA2515012971CACNA1Fc.2234_2241del (p.Ile745ArgfsTer21)
c.2072_2079del (p.Ile691ArgfsTer21)
c.2267_2274del (p.Ile756ArgfsTer21)
n.364_371del
Xg.49222570A>CCA412909660CACNA1Fc.2240T>G (p.Val747Gly)
c.2078T>G (p.Val693Gly)
c.2273T>G (p.Val758Gly)
n.370T>G
Xg.49222570A>GCA412909663CACNA1Fc.2240T>C (p.Val747Ala)
c.2078T>C (p.Val693Ala)
c.2273T>C (p.Val758Ala)
n.370T>C
Xg.49222570A>TCA412909664CACNA1Fc.2240T>A (p.Val747Glu)
c.2078T>A (p.Val693Glu)
c.2273T>A (p.Val758Glu)
n.370T>A
Xg.49222571C>ACA412909682CACNA1Fc.2239G>T (p.Val747Leu)
c.2077G>T (p.Val693Leu)
c.2272G>T (p.Val758Leu)
n.369G>T
Xg.49222571C>GCA412909688CACNA1Fc.2239G>C (p.Val747Leu)
c.2077G>C (p.Val693Leu)
c.2272G>C (p.Val758Leu)
n.369G>C
Xg.49222571C>TCA412909693CACNA1Fc.2239G>A (p.Val747Met)
c.2077G>A (p.Val693Met)
c.2272G>A (p.Val758Met)
n.369G>A
Xg.49222572A>CCA516378354CACNA1Fc.2238T>G (p.Ala746=)
c.2076T>G (p.Ala692=)
c.2271T>G (p.Ala757=)
n.368T>G
Xg.49222572A>GCA516378355CACNA1Fc.2238T>C (p.Ala746=)
c.2076T>C (p.Ala692=)
c.2271T>C (p.Ala757=)
n.368T>C
 gnomAD v4
Xg.49222572A>TCA516378356CACNA1Fc.2238T>A (p.Ala746=)
c.2076T>A (p.Ala692=)
c.2271T>A (p.Ala757=)
n.368T>A
Xg.49222573G>ACA412909698CACNA1Fc.2237C>T (p.Ala746Val)
c.2075C>T (p.Ala692Val)
c.2270C>T (p.Ala757Val)
n.367C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.49222573G>CCA412909702CACNA1Fc.2237C>G (p.Ala746Gly)
c.2075C>G (p.Ala692Gly)
c.2270C>G (p.Ala757Gly)
n.367C>G
Xg.49222573G=CA2428541626CACNA1Fc.2237C= (p.Ala746=)
c.2075C= (p.Ala692=)
c.2270C= (p.Ala757=)
n.367C=
Xg.49222573G>TCA412909705CACNA1Fc.2237C>A (p.Ala746Asp)
c.2075C>A (p.Ala692Asp)
c.2270C>A (p.Ala757Asp)
n.367C>A
Xg.49222574C>ACA412909707CACNA1Fc.2236G>T (p.Ala746Ser)
c.2074G>T (p.Ala692Ser)
c.2269G>T (p.Ala757Ser)
n.366G>T
 COSMIC
Xg.49222574C>GCA412909709CACNA1Fc.2236G>C (p.Ala746Pro)
c.2074G>C (p.Ala692Pro)
c.2269G>C (p.Ala757Pro)
n.366G>C
 ClinVar
Xg.49222574C>TCA412909711CACNA1Fc.2236G>A (p.Ala746Thr)
c.2074G>A (p.Ala692Thr)
c.2269G>A (p.Ala757Thr)
n.366G>A
 gnomAD v4 COSMIC
Xg.49222575A>CCA412909713CACNA1Fc.2235T>G (p.Ile745Met)
c.2073T>G (p.Ile691Met)
c.2268T>G (p.Ile756Met)
n.365T>G
Xg.49222575A>GCA516378362CACNA1Fc.2235T>C (p.Ile745=)
c.2073T>C (p.Ile691=)
c.2268T>C (p.Ile756=)
n.365T>C
Xg.49222575A>TCA516378361CACNA1Fc.2235T>A (p.Ile745=)
c.2073T>A (p.Ile691=)
c.2268T>A (p.Ile756=)
n.365T>A
Xg.49222576A=CA2428541627CACNA1Fc.2234T= (p.Ile745=)
c.2072T= (p.Ile691=)
c.2267T= (p.Ile756=)
n.364T=
Xg.49222576A>CCA412909725CACNA1Fc.2234T>G (p.Ile745Ser)
c.2072T>G (p.Ile691Ser)
c.2267T>G (p.Ile756Ser)
n.364T>G
Xg.49222576A>GCA121617CACNA1Fc.2234T>C (p.Ile745Thr)
c.2072T>C (p.Ile691Thr)
c.2267T>C (p.Ile756Thr)
n.364T>C
 ClinVar dbSNP
Xg.49222576A>TCA412909717CACNA1Fc.2234T>A (p.Ile745Asn)
c.2072T>A (p.Ile691Asn)
c.2267T>A (p.Ile756Asn)
n.364T>A

Number of alleles fetched