Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499897C>TCA082378RYR1c.7215-11C>T (p.=)
n.7215-11C>T (p.=)
c.7212-11C>T (p.=)
19g.38499897_38499898insTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCACA633066132RYR1c.7215-11_7215-10insTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCA (p.=)
n.7215-11_7215-10insTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCA (p.=)
c.7212-11_7212-10insTGTGTCTCTCTGGGCCTTCGTCTGCCTGCCA (p.=)
dbSNP gnomAD
19g.38499901C>TCA633066133RYR1c.7215-7C>T (p.=)
n.7215-7C>T (p.=)
c.7212-7C>T (p.=)
gnomAD
19g.38499905C>TCA633066134RYR1c.7215-3C>T (p.=)
n.7215-3C>T (p.=)
c.7212-3C>T (p.=)
gnomAD
19g.38499906A>CCA405669000RYR1c.7215-2A>C (p.=)
n.7215-2A>C (p.=)
c.7212-2A>C (p.=)
19g.38499906A>GCA405669003RYR1c.7215-2A>G (p.=)
n.7215-2A>G (p.=)
c.7212-2A>G (p.=)
19g.38499906A>TCA405669004RYR1c.7215-2A>T (p.=)
n.7215-2A>T (p.=)
c.7212-2A>T (p.=)
19g.38499907G>ACA405669006RYR1c.7215-1G>A (p.=)
n.7215-1G>A (p.=)
c.7212-1G>A (p.=)
19g.38499907G>CCA405669008RYR1c.7215-1G>C (p.=)
n.7215-1G>C (p.=)
c.7212-1G>C (p.=)
19g.38499907G>TCA405669012RYR1c.7215-1G>T (p.=)
n.7215-1G>T (p.=)
c.7212-1G>T (p.=)
19g.38499907_38499908delCA913015952
19g.38499908delCA658824676RYR1c.7215del (p.Phe2406LeufsTer24)
n.7215del (p.Phe2406LeufsTer24)
c.7212del (p.Phe2405LeufsTer24)
ClinVar dbSNP
19g.38499908C>ACA405669016RYR1c.7215C>A (p.His2405Gln)
n.7215C>A (p.His2405Gln)
c.7212C>A (p.His2404Gln)
19g.38499908C>GCA405669018RYR1c.7215C>G (p.His2405Gln)
n.7215C>G (p.His2405Gln)
c.7212C>G (p.His2404Gln)
19g.38499908C>TCA507353692RYR1c.7215C>T (p.His2405=)
n.7215C>T (p.His2405=)
c.7212C>T (p.His2404=)
19g.38499909T>ACA405669030RYR1c.7216T>A (p.Phe2406Ile)
n.7216T>A (p.Phe2406Ile)
c.7213T>A (p.Phe2405Ile)
19g.38499909T>CCA405669025RYR1c.7216T>C (p.Phe2406Leu)
n.7216T>C (p.Phe2406Leu)
c.7213T>C (p.Phe2405Leu)
19g.38499909T>GCA405669022RYR1c.7216T>G (p.Phe2406Val)
n.7216T>G (p.Phe2406Val)
c.7213T>G (p.Phe2405Val)
19g.38499911dupCA645612039RYR1c.7218dup (p.Gly2407TrpfsTer2)
n.7218dup (p.Gly2407TrpfsTer2)
c.7215dup (p.Gly2406TrpfsTer2)
COSMIC
19g.38499910T>ACA405669032RYR1c.7217T>A (p.Phe2406Tyr)
n.7217T>A (p.Phe2406Tyr)
c.7214T>A (p.Phe2405Tyr)
19g.38499910T>CCA405669036RYR1c.7217T>C (p.Phe2406Ser)
n.7217T>C (p.Phe2406Ser)
c.7214T>C (p.Phe2405Ser)
19g.38499910T>GCA405669037RYR1c.7217T>G (p.Phe2406Cys)
n.7217T>G (p.Phe2406Cys)
c.7214T>G (p.Phe2405Cys)
19g.38499911T>ACA405669040RYR1c.7218T>A (p.Phe2406Leu)
n.7218T>A (p.Phe2406Leu)
c.7215T>A (p.Phe2405Leu)
19g.38499911T>CCA507353694RYR1c.7218T>C (p.Phe2406=)
n.7218T>C (p.Phe2406=)
c.7215T>C (p.Phe2405=)
19g.38499911T>GCA405669042RYR1c.7218T>G (p.Phe2406Leu)
n.7218T>G (p.Phe2406Leu)
c.7215T>G (p.Phe2405Leu)
19g.38499912G>ACA405669055RYR1c.7219G>A (p.Gly2407Ser)
n.7219G>A (p.Gly2407Ser)
c.7216G>A (p.Gly2406Ser)
19g.38499912G>CCA405669053RYR1c.7219G>C (p.Gly2407Arg)
n.7219G>C (p.Gly2407Arg)
c.7216G>C (p.Gly2406Arg)
19g.38499912G>TCA405669047RYR1c.7219G>T (p.Gly2407Cys)
n.7219G>T (p.Gly2407Cys)
c.7216G>T (p.Gly2406Cys)
19g.38499913G>ACA069314RYR1c.7220G>A (p.Gly2407Asp)
n.7220G>A (p.Gly2407Asp)
c.7217G>A (p.Gly2406Asp)
dbSNP ExAC gnomAD
19g.38499913G>CCA405669058RYR1c.7220G>C (p.Gly2407Ala)
n.7220G>C (p.Gly2407Ala)
c.7217G>C (p.Gly2406Ala)
19g.38499913G>TCA405669059RYR1c.7220G>T (p.Gly2407Val)
n.7220G>T (p.Gly2407Val)
c.7217G>T (p.Gly2406Val)
19g.38499914T>ACA507353697RYR1c.7221T>A (p.Gly2407=)
n.7221T>A (p.Gly2407=)
c.7218T>A (p.Gly2406=)
19g.38499914T>CCA507353698RYR1c.7221T>C (p.Gly2407=)
n.7221T>C (p.Gly2407=)
c.7218T>C (p.Gly2406=)
COSMIC
19g.38499914T>GCA507353699RYR1c.7221T>G (p.Gly2407=)
n.7221T>G (p.Gly2407=)
c.7218T>G (p.Gly2406=)
19g.38499915G>ACA405669061RYR1c.7222G>A (p.Glu2408Lys)
n.7222G>A (p.Glu2408Lys)
c.7219G>A (p.Glu2407Lys)
gnomAD
19g.38499915G>CCA405669063RYR1c.7222G>C (p.Glu2408Gln)
n.7222G>C (p.Glu2408Gln)
c.7219G>C (p.Glu2407Gln)
19g.38499915G>TCA405669065RYR1c.7222G>T (p.Glu2408Ter)
n.7222G>T (p.Glu2408Ter)
c.7219G>T (p.Glu2407Ter)
19g.38499916A>CCA405669070RYR1c.7223A>C (p.Glu2408Ala)
n.7223A>C (p.Glu2408Ala)
c.7220A>C (p.Glu2407Ala)
19g.38499916A>GCA405669073RYR1c.7223A>G (p.Glu2408Gly)
n.7223A>G (p.Glu2408Gly)
c.7220A>G (p.Glu2407Gly)
19g.38499916A>TCA405669071RYR1c.7223A>T (p.Glu2408Val)
n.7223A>T (p.Glu2408Val)
c.7220A>T (p.Glu2407Val)
19g.38499917G>ACA507353700RYR1c.7224G>A (p.Glu2408=)
n.7224G>A (p.Glu2408=)
c.7221G>A (p.Glu2407=)
19g.38499917G>CCA405669076RYR1c.7224G>C (p.Glu2408Asp)
n.7224G>C (p.Glu2408Asp)
c.7221G>C (p.Glu2407Asp)
19g.38499917G>TCA405669080RYR1c.7224G>T (p.Glu2408Asp)
n.7224G>T (p.Glu2408Asp)
c.7221G>T (p.Glu2407Asp)
19g.38499918G>ACA405669083RYR1c.7225G>A (p.Glu2409Lys)
n.7225G>A (p.Glu2409Lys)
c.7222G>A (p.Glu2408Lys)
COSMIC
19g.38499918G>CCA405669084RYR1c.7225G>C (p.Glu2409Gln)
n.7225G>C (p.Glu2409Gln)
c.7222G>C (p.Glu2408Gln)
19g.38499918G>TCA405669086RYR1c.7225G>T (p.Glu2409Ter)
n.7225G>T (p.Glu2409Ter)
c.7222G>T (p.Glu2408Ter)
19g.38499919A>CCA405669091RYR1c.7226A>C (p.Glu2409Ala)
n.7226A>C (p.Glu2409Ala)
c.7223A>C (p.Glu2408Ala)
19g.38499919A>GCA405669093RYR1c.7226A>G (p.Glu2409Gly)
n.7226A>G (p.Glu2409Gly)
c.7223A>G (p.Glu2408Gly)
19g.38499919A>TCA405669094RYR1c.7226A>T (p.Glu2409Val)
n.7226A>T (p.Glu2409Val)
c.7223A>T (p.Glu2408Val)
19g.38499920A>CCA405669096RYR1c.7227A>C (p.Glu2409Asp)
n.7227A>C (p.Glu2409Asp)
c.7224A>C (p.Glu2408Asp)

Number of alleles fetched