Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38519237C>ACA405694686RYR1c.9981C>A (n.9981C>A)
c.10042C>A (p.Arg3348Ser)
c.10039C>A (p.Arg3347Ser)
c.3444C>A
c.849C>A
 gnomAD v4
19g.38519237C=CA2335062905RYR1c.9981C= (n.9981C=)
c.10042C= (p.Arg3348=)
c.10039C= (p.Arg3347=)
c.3444C=
c.849C=
19g.38519237C>GCA308131130RYR1c.9981C>G (n.9981C>G)
c.10042C>G (p.Arg3348Gly)
c.10039C>G (p.Arg3347Gly)
c.3444C>G
c.849C>G
 dbSNP
19g.38519237C>TCA079715RYR1c.9981C>T (n.9981C>T)
c.10042C>T (p.Arg3348Cys)
c.10039C>T (p.Arg3347Cys)
c.3444C>T
c.849C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38519238G>ACA023809RYR1c.9982G>A (n.9982G>A)
c.10043G>A (p.Arg3348His)
c.10040G>A (p.Arg3347His)
c.3445G>A
c.850G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38519238G>CCA405694689RYR1c.9982G>C (n.9982G>C)
c.10043G>C (p.Arg3348Pro)
c.10040G>C (p.Arg3347Pro)
c.3445G>C
c.850G>C
19g.38519238G=CA2335062906RYR1c.9982G= (n.9982G=)
c.10043G= (p.Arg3348=)
c.10040G= (p.Arg3347=)
c.3445G=
c.850G=
19g.38519238G>TCA405694692RYR1c.9982G>T (n.9982G>T)
c.10043G>T (p.Arg3348Leu)
c.10040G>T (p.Arg3347Leu)
c.3445G>T
c.850G>T
19g.38519239T>ACA507354347RYR1c.9983T>A (n.9983T>A)
c.10044T>A (p.Arg3348=)
c.10041T>A (p.Arg3347=)
c.3446T>A
c.851T>A
19g.38519239T>CCA507354349RYR1c.9983T>C (n.9983T>C)
c.10044T>C (p.Arg3348=)
c.10041T>C (p.Arg3347=)
c.3446T>C
c.851T>C
19g.38519239T>GCA507354350RYR1c.9983T>G (n.9983T>G)
c.10044T>G (p.Arg3348=)
c.10041T>G (p.Arg3347=)
c.3446T>G
c.851T>G
19g.38519240G>ACA405694706RYR1c.9984G>A (n.9984G>A)
c.10045G>A (p.Ala3349Thr)
c.10042G>A (p.Ala3348Thr)
c.3447G>A
c.852G>A
19g.38519240G>CCA405694707RYR1c.9984G>C (n.9984G>C)
c.10045G>C (p.Ala3349Pro)
c.10042G>C (p.Ala3348Pro)
c.3447G>C
c.852G>C
19g.38519240G>TCA405694708RYR1c.9984G>T (n.9984G>T)
c.10045G>T (p.Ala3349Ser)
c.10042G>T (p.Ala3348Ser)
c.3447G>T
c.852G>T
 COSMIC
19g.38519241C>ACA405694712RYR1c.9985C>A (n.9985C>A)
c.10046C>A (p.Ala3349Glu)
c.10043C>A (p.Ala3348Glu)
c.3448C>A
c.853C>A
19g.38519241C=CA2335062907RYR1c.9985C= (n.9985C=)
c.10046C= (p.Ala3349=)
c.10043C= (p.Ala3348=)
c.3448C=
c.853C=
19g.38519241C>GCA212122RYR1c.9985C>G (n.9985C>G)
c.10046C>G (p.Ala3349Gly)
c.10043C>G (p.Ala3348Gly)
c.3448C>G
c.853C>G
 ClinVar dbSNP
19g.38519241C>TCA405694718RYR1c.9985C>T (n.9985C>T)
c.10046C>T (p.Ala3349Val)
c.10043C>T (p.Ala3348Val)
c.3448C>T
c.853C>T
19g.38519242A>CCA507354354RYR1c.9986A>C (n.9986A>C)
c.10047A>C (p.Ala3349=)
c.10044A>C (p.Ala3348=)
c.3449A>C
c.854A>C
19g.38519242A>GCA507354355RYR1c.9986A>G (n.9986A>G)
c.10047A>G (p.Ala3349=)
c.10044A>G (p.Ala3348=)
c.3449A>G
c.854A>G
19g.38519242A>TCA507354356RYR1c.9986A>T (n.9986A>T)
c.10047A>T (p.Ala3349=)
c.10044A>T (p.Ala3348=)
c.3449A>T
c.854A>T
19g.38519243C>ACA052256RYR1c.9987C>A (n.9987C>A)
c.10048C>A (p.Arg3350=)
c.10045C>A (p.Arg3349=)
c.3450C>A
c.855C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38519243C=CA2335062908RYR1c.9987C= (n.9987C=)
c.10048C= (p.Arg3350=)
c.10045C= (p.Arg3349=)
c.3450C=
c.855C=
19g.38519243C>GCA405694724RYR1c.9987C>G (n.9987C>G)
c.10048C>G (p.Arg3350Gly)
c.10045C>G (p.Arg3349Gly)
c.3450C>G
c.855C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38519243C>TCA405694728RYR1c.9987C>T (n.9987C>T)
c.10048C>T (p.Arg3350Trp)
c.10045C>T (p.Arg3349Trp)
c.3450C>T
c.855C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38519244G>ACA052265RYR1c.9988G>A (n.9988G>A)
c.10049G>A (p.Arg3350Gln)
c.10046G>A (p.Arg3349Gln)
c.3451G>A
c.856G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38519244G>CCA405694737RYR1c.9988G>C (n.9988G>C)
c.10049G>C (p.Arg3350Pro)
c.10046G>C (p.Arg3349Pro)
c.3451G>C
c.856G>C
19g.38519244G=CA2335062909RYR1c.9988G= (n.9988G=)
c.10049G= (p.Arg3350=)
c.10046G= (p.Arg3349=)
c.3451G=
c.856G=
19g.38519244G>TCA052270RYR1c.9988G>T (n.9988G>T)
c.10049G>T (p.Arg3350Leu)
c.10046G>T (p.Arg3349Leu)
c.3451G>T
c.856G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38519245G>ACA507354360RYR1c.9989G>A (n.9989G>A)
c.10050G>A (p.Arg3350=)
c.10047G>A (p.Arg3349=)
c.3452G>A
c.857G>A
19g.38519245G>CCA507354361RYR1c.9989G>C (n.9989G>C)
c.10050G>C (p.Arg3350=)
c.10047G>C (p.Arg3349=)
c.3452G>C
c.857G>C
19g.38519245G>TCA507354362RYR1c.9989G>T (n.9989G>T)
c.10050G>T (p.Arg3350=)
c.10047G>T (p.Arg3349=)
c.3452G>T
c.857G>T
19g.38519246C>ACA079717RYR1c.9990C>A (n.9990C>A)
c.10051C>A (p.Pro3351Thr)
c.10048C>A (p.Pro3350Thr)
c.3453C>A
c.858C>A
19g.38519246C>GCA405694745RYR1c.9990C>G (n.9990C>G)
c.10051C>G (p.Pro3351Ala)
c.10048C>G (p.Pro3350Ala)
c.3453C>G
c.858C>G
19g.38519246C>TCA405694744RYR1c.9990C>T (n.9990C>T)
c.10051C>T (p.Pro3351Ser)
c.10048C>T (p.Pro3350Ser)
c.3453C>T
c.858C>T
19g.38519247C>ACA405694747RYR1c.9991C>A (n.9991C>A)
c.10052C>A (p.Pro3351Gln)
c.10049C>A (p.Pro3350Gln)
c.3454C>A
c.859C>A
19g.38519247C=CA2335062911RYR1c.9991C= (n.9991C=)
c.10052C= (p.Pro3351=)
c.10049C= (p.Pro3350=)
c.3454C=
c.859C=
19g.38519247C>GCA308131144RYR1c.9991C>G (n.9991C>G)
c.10052C>G (p.Pro3351Arg)
c.10049C>G (p.Pro3350Arg)
c.3454C>G
c.859C>G
 dbSNP gnomAD v4
19g.38519247C>TCA405694751RYR1c.9991C>T (n.9991C>T)
c.10052C>T (p.Pro3351Leu)
c.10049C>T (p.Pro3350Leu)
c.3454C>T
c.859C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38519247_38519248delinsCGCA2335062910RYR1c.9991_9992delinsCG (n.9991_9992delinsCG)
c.10052_10053delinsCG (p.Pro3351=)
c.10049_10050delinsCG (p.Pro3350=)
c.3454_3455delinsCG
c.859_860delinsCG
19g.38519248G>ACA052278RYR1c.9992G>A (n.9992G>A)
c.10053G>A (p.Pro3351=)
c.10050G>A (p.Pro3350=)
c.3455G>A
c.860G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38519248G>CCA507354367RYR1c.9992G>C (n.9992G>C)
c.10053G>C (p.Pro3351=)
c.10050G>C (p.Pro3350=)
c.3455G>C
c.860G>C
19g.38519248G=CA2335062912RYR1c.9992G= (n.9992G=)
c.10053G= (p.Pro3351=)
c.10050G= (p.Pro3350=)
c.3455G=
c.860G=
19g.38519248G>TCA507354366RYR1c.9992G>T (n.9992G>T)
c.10053G>T (p.Pro3351=)
c.10050G>T (p.Pro3350=)
c.3455G>T
c.860G>T
19g.38519249delCA052273RYR1c.9993del (n.9993del)
c.10054del (p.Glu3352SerfsTer?)
c.10051del (p.Glu3351SerfsTer?)
c.3456del
c.861del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38519249G>ACA405694769RYR1c.9993G>A (n.9993G>A)
c.10054G>A (p.Glu3352Lys)
c.10051G>A (p.Glu3351Lys)
c.3456G>A
c.861G>A
 ClinVar dbSNP
19g.38519249G>CCA405694770RYR1c.9993G>C (n.9993G>C)
c.10054G>C (p.Glu3352Gln)
c.10051G>C (p.Glu3351Gln)
c.3456G>C
c.861G>C
 COSMIC
19g.38519249G>TCA405694784RYR1c.9993G>T (n.9993G>T)
c.10054G>T (p.Glu3352Ter)
c.10051G>T (p.Glu3351Ter)
c.3456G>T
c.861G>T
19g.38519250A=CA2335062913RYR1c.9994A= (n.9994A=)
c.10055A= (p.Glu3352=)
c.10052A= (p.Glu3351=)
c.3457A=
c.862A=
19g.38519250A>CCA405694785RYR1c.9994A>C (n.9994A>C)
c.10055A>C (p.Glu3352Ala)
c.10052A>C (p.Glu3351Ala)
c.3457A>C
c.862A>C

Number of alleles fetched