Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499894_38499897delCA2576771085RYR1c.7215-14_7215-11del (n.7215-14_7215-11del)
c.7212-14_7212-11del (n.7212-14_7212-11del)
c.667-14_667-11del
n.7298-14_7298-11del
19g.38499897C=CA2335053002RYR1c.7215-11C= (n.7215-11C=)
c.7212-11C= (n.7212-11C=)
c.667-11C=
n.7298-11C=
19g.38499897C>TCA082378RYR1c.7215-11C>T (n.7215-11C>T)
c.7212-11C>T (n.7212-11C>T)
c.667-11C>T
n.7298-11C>T
 ClinVar dbSNP gnomAD v4
19g.38499898T>ACA2335053004RYR1c.7215-10T>A (n.7215-10T>A)
c.7212-10T>A (n.7212-10T>A)
c.667-10T>A
n.7298-10T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499898T=CA2335053003RYR1c.7215-10T= (n.7215-10T=)
c.7212-10T= (n.7212-10T=)
c.667-10T=
n.7298-10T=
19g.38499898_38499899insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCATCA633066132RYR1c.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT (n.7215-10_7215-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT)
c.7212-10_7212-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT (n.7212-10_7212-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT)
c.667-10_667-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT
n.7298-10_7298-9insGTGTCTCTCTGGGCCTTCGTCTGCCTGCCAT
 dbSNP gnomAD v2
19g.38499900C>ACA2584900088RYR1c.7215-8C>A (n.7215-8C>A)
c.7212-8C>A (n.7212-8C>A)
c.667-8C>A
n.7298-8C>A
 gnomAD v4
19g.38499901C=CA2335053005RYR1c.7215-7C= (n.7215-7C=)
c.7212-7C= (n.7212-7C=)
c.667-7C=
n.7298-7C=
19g.38499901C>GCA2580097206RYR1c.7215-7C>G (n.7215-7C>G)
c.7212-7C>G (n.7212-7C>G)
c.667-7C>G
n.7298-7C>G
 ClinVar gnomAD v4
19g.38499901C>TCA633066133RYR1c.7215-7C>T (n.7215-7C>T)
c.7212-7C>T (n.7212-7C>T)
c.667-7C>T
n.7298-7C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499902C>TCA2573156327RYR1c.7215-6C>T (n.7215-6C>T)
c.7212-6C>T (n.7212-6C>T)
c.667-6C>T
n.7298-6C>T
 ClinVar dbSNP
19g.38499903T>ACA2527904729RYR1c.7215-5T>A (n.7215-5T>A)
c.7212-5T>A (n.7212-5T>A)
c.667-5T>A
n.7298-5T>A
 gnomAD v4
19g.38499905C=CA2335053006RYR1c.7215-3C= (n.7215-3C=)
c.7212-3C= (n.7212-3C=)
c.667-3C=
n.7298-3C=
19g.38499905C>TCA633066134RYR1c.7215-3C>T (n.7215-3C>T)
c.7212-3C>T (n.7212-3C>T)
c.667-3C>T
n.7298-3C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499906A>CCA405669000RYR1c.7215-2A>C (n.7215-2A>C)
c.7212-2A>C (n.7212-2A>C)
c.667-2A>C
n.7298-2A>C
19g.38499906A>GCA405669003RYR1c.7215-2A>G (n.7215-2A>G)
c.7212-2A>G (n.7212-2A>G)
c.667-2A>G
n.7298-2A>G
19g.38499906A>TCA405669004RYR1c.7215-2A>T (n.7215-2A>T)
c.7212-2A>T (n.7212-2A>T)
c.667-2A>T
n.7298-2A>T
19g.38499907G>ACA405669006RYR1c.7215-1G>A (n.7215-1G>A)
c.7212-1G>A (n.7212-1G>A)
c.667-1G>A
n.7298-1G>A
19g.38499907G>CCA405669008RYR1c.7215-1G>C (n.7215-1G>C)
c.7212-1G>C (n.7212-1G>C)
c.667-1G>C
n.7298-1G>C
19g.38499907G>TCA405669012RYR1c.7215-1G>T (n.7215-1G>T)
c.7212-1G>T (n.7212-1G>T)
c.667-1G>T
n.7298-1G>T
19g.38499907_38499908delCA913015952RYR1c.7215-1_7215del
c.7212-1_7212del
c.667-1_667del
n.7298-1_7298del
19g.38499907_38499908delinsGCCA2335053007RYR1c.7215-1_7215delinsGC
c.7212-1_7212delinsGC
c.667-1_667delinsGC
n.7298-1_7298delinsGC
19g.38499908delCA658824676RYR1c.7215del (p.Phe2406LeufsTer24)
c.7212del (p.Phe2405LeufsTer24)
c.667del
n.7298del
 ClinVar dbSNP
19g.38499908C>ACA405669016RYR1c.7215C>A (p.His2405Gln)
c.7212C>A (p.His2404Gln)
c.667C>A
n.7298C>A
19g.38499908C>GCA405669018RYR1c.7215C>G (p.His2405Gln)
c.7212C>G (p.His2404Gln)
c.667C>G
n.7298C>G
19g.38499908C>TCA507353692RYR1c.7215C>T (p.His2405=)
c.7212C>T (p.His2404=)
c.667C>T
n.7298C>T
19g.38499909T>ACA405669030RYR1c.7216T>A (p.Phe2406Ile)
c.7213T>A (p.Phe2405Ile)
c.668T>A
n.7299T>A
19g.38499909T>CCA405669025RYR1c.7216T>C (p.Phe2406Leu)
c.7213T>C (p.Phe2405Leu)
c.668T>C
n.7299T>C
19g.38499909T>GCA405669022RYR1c.7216T>G (p.Phe2406Val)
c.7213T>G (p.Phe2405Val)
c.668T>G
n.7299T>G
19g.38499911dupCA645612039RYR1c.7218dup (p.Gly2407TrpfsTer2)
c.7215dup (p.Gly2406TrpfsTer2)
c.670dup
n.7301dup
 COSMIC
19g.38499910T>ACA405669032RYR1c.7217T>A (p.Phe2406Tyr)
c.7214T>A (p.Phe2405Tyr)
c.669T>A
n.7300T>A
19g.38499910T>CCA405669036RYR1c.7217T>C (p.Phe2406Ser)
c.7214T>C (p.Phe2405Ser)
c.669T>C
n.7300T>C
19g.38499910T>GCA405669037RYR1c.7217T>G (p.Phe2406Cys)
c.7214T>G (p.Phe2405Cys)
c.669T>G
n.7300T>G
19g.38499911T>ACA405669040RYR1c.7218T>A (p.Phe2406Leu)
c.7215T>A (p.Phe2405Leu)
c.670T>A
n.7301T>A
19g.38499911T>CCA507353694RYR1c.7218T>C (p.Phe2406=)
c.7215T>C (p.Phe2405=)
c.670T>C
n.7301T>C
19g.38499911T>GCA405669042RYR1c.7218T>G (p.Phe2406Leu)
c.7215T>G (p.Phe2405Leu)
c.670T>G
n.7301T>G
19g.38499912G>ACA405669055RYR1c.7219G>A (p.Gly2407Ser)
c.7216G>A (p.Gly2406Ser)
c.671G>A
n.7302G>A
19g.38499912G>CCA405669053RYR1c.7219G>C (p.Gly2407Arg)
c.7216G>C (p.Gly2406Arg)
c.671G>C
n.7302G>C
19g.38499912G>TCA405669047RYR1c.7219G>T (p.Gly2407Cys)
c.7216G>T (p.Gly2406Cys)
c.671G>T
n.7302G>T
19g.38499913G>ACA069314RYR1c.7220G>A (p.Gly2407Asp)
c.7217G>A (p.Gly2406Asp)
c.672G>A
n.7303G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499913G>CCA405669058RYR1c.7220G>C (p.Gly2407Ala)
c.7217G>C (p.Gly2406Ala)
c.672G>C
n.7303G>C
19g.38499913G=CA2335053008RYR1c.7220G= (p.Gly2407=)
c.7217G= (p.Gly2406=)
c.672G=
n.7303G=
19g.38499913G>TCA405669059RYR1c.7220G>T (p.Gly2407Val)
c.7217G>T (p.Gly2406Val)
c.672G>T
n.7303G>T
19g.38499914T>ACA507353697RYR1c.7221T>A (p.Gly2407=)
c.7218T>A (p.Gly2406=)
c.673T>A
n.7304T>A
19g.38499914T>CCA507353698RYR1c.7221T>C (p.Gly2407=)
c.7218T>C (p.Gly2406=)
c.673T>C
n.7304T>C
 COSMIC
19g.38499914T>GCA507353699RYR1c.7221T>G (p.Gly2407=)
c.7218T>G (p.Gly2406=)
c.673T>G
n.7304T>G
 gnomAD v3 gnomAD v4
19g.38499915G>ACA405669061RYR1c.7222G>A (p.Glu2408Lys)
c.7219G>A (p.Glu2407Lys)
c.674G>A
n.7305G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38499915G>CCA405669063RYR1c.7222G>C (p.Glu2408Gln)
c.7219G>C (p.Glu2407Gln)
c.674G>C
n.7305G>C
19g.38499915G=CA2335053009RYR1c.7222G= (p.Glu2408=)
c.7219G= (p.Glu2407=)
c.674G=
n.7305G=
19g.38499915G>TCA405669065RYR1c.7222G>T (p.Glu2408Ter)
c.7219G>T (p.Glu2407Ter)
c.674G>T
n.7305G>T

Number of alleles fetched