Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499127G>ACA405667130RYR1c.6911G>A (p.Gly2304Asp)
c.6908G>A (p.Gly2303Asp)
c.363G>A
n.6994G>A
19g.38499127G>CCA068925RYR1c.6911G>C (p.Gly2304Ala)
c.6908G>C (p.Gly2303Ala)
c.363G>C
n.6994G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499127G=CA2335052598RYR1c.6911G= (p.Gly2304=)
c.6908G= (p.Gly2303=)
c.363G=
n.6994G=
19g.38499127G>TCA405667131RYR1c.6911G>T (p.Gly2304Val)
c.6908G>T (p.Gly2303Val)
c.363G>T
n.6994G>T
19g.38499128C>ACA507243106RYR1c.6912C>A (p.Gly2304=)
c.6909C>A (p.Gly2303=)
c.364C>A
n.6995C>A
19g.38499128C>GCA507243107RYR1c.6912C>G (p.Gly2304=)
c.6909C>G (p.Gly2303=)
c.364C>G
n.6995C>G
 ClinVar
19g.38499128C>TCA507243108RYR1c.6912C>T (p.Gly2304=)
c.6909C>T (p.Gly2303=)
c.364C>T
n.6995C>T
19g.38499129T>ACA405667132RYR1c.6913T>A (p.Cys2305Ser)
c.6910T>A (p.Cys2304Ser)
c.365T>A
n.6996T>A
19g.38499129T>CCA405667133RYR1c.6913T>C (p.Cys2305Arg)
c.6910T>C (p.Cys2304Arg)
c.365T>C
n.6996T>C
19g.38499129T>GCA405667135RYR1c.6913T>G (p.Cys2305Gly)
c.6910T>G (p.Cys2304Gly)
c.365T>G
n.6996T>G
19g.38499130G>ACA405667136RYR1c.6914G>A (p.Cys2305Tyr)
c.6911G>A (p.Cys2304Tyr)
c.366G>A
n.6997G>A
19g.38499130G>CCA082270RYR1c.6914G>C (p.Cys2305Ser)
c.6911G>C (p.Cys2304Ser)
c.366G>C
n.6997G>C
 gnomAD v4
19g.38499130G>TCA405667138RYR1c.6914G>T (p.Cys2305Phe)
c.6911G>T (p.Cys2304Phe)
c.366G>T
n.6997G>T
19g.38499131T>ACA405667140RYR1c.6915T>A (p.Cys2305Ter)
c.6912T>A (p.Cys2304Ter)
c.367T>A
n.6998T>A
19g.38499131T>CCA507243115RYR1c.6915T>C (p.Cys2305=)
c.6912T>C (p.Cys2304=)
c.367T>C
n.6998T>C
19g.38499131T>GCA405667141RYR1c.6915T>G (p.Cys2305Trp)
c.6912T>G (p.Cys2304Trp)
c.367T>G
n.6998T>G
 dbSNP
19g.38499132G>ACA405667142RYR1c.6916G>A (p.Gly2306Ser)
c.6913G>A (p.Gly2305Ser)
c.368G>A
n.6999G>A
19g.38499132G>CCA405667144RYR1c.6916G>C (p.Gly2306Arg)
c.6913G>C (p.Gly2305Arg)
c.368G>C
n.6999G>C
19g.38499132G>TCA405667146RYR1c.6916G>T (p.Gly2306Cys)
c.6913G>T (p.Gly2305Cys)
c.368G>T
n.6999G>T
19g.38499133G>ACA405667151RYR1c.6917G>A (p.Gly2306Asp)
c.6914G>A (p.Gly2305Asp)
c.369G>A
n.7000G>A
19g.38499133G>CCA405667149RYR1c.6917G>C (p.Gly2306Ala)
c.6914G>C (p.Gly2305Ala)
c.369G>C
n.7000G>C
19g.38499133G>TCA405667148RYR1c.6917G>T (p.Gly2306Val)
c.6914G>T (p.Gly2305Val)
c.369G>T
n.7000G>T
19g.38499134C>ACA507243122RYR1c.6918C>A (p.Gly2306=)
c.6915C>A (p.Gly2305=)
c.370C>A
n.7001C>A
19g.38499134C>GCA507243124RYR1c.6918C>G (p.Gly2306=)
c.6915C>G (p.Gly2305=)
c.370C>G
n.7001C>G
19g.38499134C>TCA507243126RYR1c.6918C>T (p.Gly2306=)
c.6915C>T (p.Gly2305=)
c.370C>T
n.7001C>T
19g.38499135C>ACA405667153RYR1c.6919C>A (p.Leu2307Ile)
c.6916C>A (p.Leu2306Ile)
c.371C>A
n.7002C>A
19g.38499135C>GCA405667154RYR1c.6919C>G (p.Leu2307Val)
c.6916C>G (p.Leu2306Val)
c.371C>G
n.7002C>G
19g.38499135C>TCA405667156RYR1c.6919C>T (p.Leu2307Phe)
c.6916C>T (p.Leu2306Phe)
c.371C>T
n.7002C>T
 gnomAD v4
19g.38499136T>ACA405667157RYR1c.6920T>A (p.Leu2307His)
c.6917T>A (p.Leu2306His)
c.372T>A
n.7003T>A
19g.38499136T>CCA405667159RYR1c.6920T>C (p.Leu2307Pro)
c.6917T>C (p.Leu2306Pro)
c.372T>C
n.7003T>C
19g.38499136T>GCA405667161RYR1c.6920T>G (p.Leu2307Arg)
c.6917T>G (p.Leu2306Arg)
c.372T>G
n.7003T>G
19g.38499137C>ACA507243133RYR1c.6921C>A (p.Leu2307=)
c.6918C>A (p.Leu2306=)
c.373C>A
n.7004C>A
19g.38499137C=CA2335052599RYR1c.6921C= (p.Leu2307=)
c.6918C= (p.Leu2306=)
c.373C=
n.7004C=
19g.38499137C>GCA068928RYR1c.6921C>G (p.Leu2307=)
c.6918C>G (p.Leu2306=)
c.373C>G
n.7004C>G
 ClinVar dbSNP ExAC gnomAD v2
19g.38499137C>TCA507243134RYR1c.6921C>T (p.Leu2307=)
c.6918C>T (p.Leu2306=)
c.373C>T
n.7004C>T
19g.38499138C>ACA405667163RYR1c.6922C>A (p.Gln2308Lys)
c.6919C>A (p.Gln2307Lys)
c.374C>A
n.7005C>A
19g.38499138C>GCA405667164RYR1c.6922C>G (p.Gln2308Glu)
c.6919C>G (p.Gln2307Glu)
c.374C>G
n.7005C>G
19g.38499138C>TCA405667166RYR1c.6922C>T (p.Gln2308Ter)
c.6919C>T (p.Gln2307Ter)
c.374C>T
n.7005C>T
19g.38499139A>CCA405667168RYR1c.6923A>C (p.Gln2308Pro)
c.6920A>C (p.Gln2307Pro)
c.375A>C
n.7006A>C
19g.38499139A>GCA405667169RYR1c.6923A>G (p.Gln2308Arg)
c.6920A>G (p.Gln2307Arg)
c.375A>G
n.7006A>G
19g.38499139A>TCA405667171RYR1c.6923A>T (p.Gln2308Leu)
c.6920A>T (p.Gln2307Leu)
c.375A>T
n.7006A>T
19g.38499140G>ACA507243141RYR1c.6924G>A (p.Gln2308=)
c.6921G>A (p.Gln2307=)
c.376G>A
n.7007G>A
19g.38499140G>CCA405667174RYR1c.6924G>C (p.Gln2308His)
c.6921G>C (p.Gln2307His)
c.376G>C
n.7007G>C
19g.38499140G>TCA405667173RYR1c.6924G>T (p.Gln2308His)
c.6921G>T (p.Gln2307His)
c.376G>T
n.7007G>T
19g.38499141A>CCA405667177RYR1c.6925A>C (p.Ser2309Arg)
c.6922A>C (p.Ser2308Arg)
c.377A>C
n.7008A>C
19g.38499141A>GCA405667179RYR1c.6925A>G (p.Ser2309Gly)
c.6922A>G (p.Ser2308Gly)
c.377A>G
n.7008A>G
19g.38499141A>TCA405667180RYR1c.6925A>T (p.Ser2309Cys)
c.6922A>T (p.Ser2308Cys)
c.377A>T
n.7008A>T
19g.38499142G>ACA405667182RYR1c.6926G>A (p.Ser2309Asn)
c.6923G>A (p.Ser2308Asn)
c.378G>A
n.7009G>A
 ClinVar dbSNP gnomAD v4
19g.38499142G>CCA405667183RYR1c.6926G>C (p.Ser2309Thr)
c.6923G>C (p.Ser2308Thr)
c.378G>C
n.7009G>C
19g.38499142G>TCA405667184RYR1c.6926G>T (p.Ser2309Ile)
c.6923G>T (p.Ser2308Ile)
c.378G>T
n.7009G>T

Number of alleles fetched