Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499801C>ACA507353921RYR1c.7194C>A (p.Arg2398=)
c.7191C>A (p.Arg2397=)
c.646C>A
n.7277C>A
19g.38499801C=CA2335052940RYR1c.7194C= (p.Arg2398=)
c.7191C= (p.Arg2397=)
c.646C=
n.7277C=
19g.38499801C>GCA507353922RYR1c.7194C>G (p.Arg2398=)
c.7191C>G (p.Arg2397=)
c.646C>G
n.7277C>G
19g.38499801C>TCA308109635RYR1c.7194C>T (p.Arg2398=)
c.7191C>T (p.Arg2397=)
c.646C>T
n.7277C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499802A>CCA507353923RYR1c.7195A>C (p.Arg2399=)
c.7192A>C (p.Arg2398=)
c.647A>C
n.7278A>C
19g.38499802A>GCA405668782RYR1c.7195A>G (p.Arg2399Gly)
c.7192A>G (p.Arg2398Gly)
c.647A>G
n.7278A>G
 gnomAD v4
19g.38499802A>TCA405668785RYR1c.7195A>T (p.Arg2399Trp)
c.7192A>T (p.Arg2398Trp)
c.647A>T
n.7278A>T
19g.38499802_38499803delinsAGCA2335052941RYR1c.7195_7196delinsAG (p.Arg2399=)
c.7192_7193delinsAG (p.Arg2398=)
c.647_648delinsAG
n.7278_7279delinsAG
19g.38499803G>ACA082353RYR1c.7196G>A (p.Arg2399Lys)
c.7193G>A (p.Arg2398Lys)
c.648G>A
n.7279G>A
19g.38499803G>CCA405668799RYR1c.7196G>C (p.Arg2399Thr)
c.7193G>C (p.Arg2398Thr)
c.648G>C
n.7279G>C
19g.38499803G>TCA405668802RYR1c.7196G>T (p.Arg2399Met)
c.7193G>T (p.Arg2398Met)
c.648G>T
n.7279G>T
19g.38499805delCA069225RYR1c.7198del (p.Asp2400ThrfsTer30)
c.7195del (p.Asp2399ThrfsTer30)
c.650del
n.7281del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499804G>ACA507353924RYR1c.7197G>A (p.Arg2399=)
c.7194G>A (p.Arg2398=)
c.649G>A
n.7280G>A
 dbSNP
19g.38499804G>CCA405668807RYR1c.7197G>C (p.Arg2399Ser)
c.7194G>C (p.Arg2398Ser)
c.649G>C
n.7280G>C
19g.38499804G=CA2335052942RYR1c.7197G= (p.Arg2399=)
c.7194G= (p.Arg2398=)
c.649G=
n.7280G=
19g.38499804G>TCA405668810RYR1c.7197G>T (p.Arg2399Ser)
c.7194G>T (p.Arg2398Ser)
c.649G>T
n.7280G>T
 gnomAD v4
19g.38499805G>ACA405668817RYR1c.7198G>A (p.Asp2400Asn)
c.7195G>A (p.Asp2399Asn)
c.650G>A
n.7281G>A
 gnomAD v4
19g.38499805G>CCA405668819RYR1c.7198G>C (p.Asp2400His)
c.7195G>C (p.Asp2399His)
c.650G>C
n.7281G>C
19g.38499805G>TCA405668822RYR1c.7198G>T (p.Asp2400Tyr)
c.7195G>T (p.Asp2399Tyr)
c.650G>T
n.7281G>T
19g.38499806A=CA2335052943RYR1c.7199A= (p.Asp2400=)
c.7196A= (p.Asp2399=)
c.651A=
n.7282A=
19g.38499806A>CCA405668826RYR1c.7199A>C (p.Asp2400Ala)
c.7196A>C (p.Asp2399Ala)
c.651A>C
n.7282A>C
19g.38499806A>GCA308109644RYR1c.7199A>G (p.Asp2400Gly)
c.7196A>G (p.Asp2399Gly)
c.651A>G
n.7282A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499806A>TCA405668828RYR1c.7199A>T (p.Asp2400Val)
c.7196A>T (p.Asp2399Val)
c.651A>T
n.7282A>T
19g.38499806_38499830delinsACCGGCGGCGCGAGCAGTGAGTCTCCA2335052944RYR1c.7199_7214+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
c.7196_7211+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
c.651_666+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
n.7282_7297+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
19g.38499807C>ACA405668830RYR1c.7200C>A (p.Asp2400Glu)
c.7197C>A (p.Asp2399Glu)
c.652C>A
n.7283C>A
 gnomAD v4
19g.38499807C=CA2335052945RYR1c.7200C= (p.Asp2400=)
c.7197C= (p.Asp2399=)
c.652C=
n.7283C=
19g.38499807C>GCA405668832RYR1c.7200C>G (p.Asp2400Glu)
c.7197C>G (p.Asp2399Glu)
c.652C>G
n.7283C>G
19g.38499807C>TCA069228RYR1c.7200C>T (p.Asp2400=)
c.7197C>T (p.Asp2399=)
c.652C>T
n.7283C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499812_38499835delCA633066148RYR1c.7205_7214+14del
c.7202_7211+14del
c.657_666+14del
n.7288_7297+14del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499808C>ACA507353925RYR1c.7201C>A (p.Arg2401=)
c.7198C>A (p.Arg2400=)
c.653C>A
n.7284C>A
 gnomAD v4
19g.38499808C=CA2335052946RYR1c.7201C= (p.Arg2401=)
c.7198C= (p.Arg2400=)
c.653C=
n.7284C=
19g.38499808C>GCA405668834RYR1c.7201C>G (p.Arg2401Gly)
c.7198C>G (p.Arg2400Gly)
c.653C>G
n.7284C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499808C>TCA405668836RYR1c.7201C>T (p.Arg2401Trp)
c.7198C>T (p.Arg2400Trp)
c.653C>T
n.7284C>T
 dbSNP gnomAD v4
19g.38499809G>ACA069232RYR1c.7202G>A (p.Arg2401Gln)
c.7199G>A (p.Arg2400Gln)
c.654G>A
n.7285G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499809G>CCA405668842RYR1c.7202G>C (p.Arg2401Pro)
c.7199G>C (p.Arg2400Pro)
c.654G>C
n.7285G>C
19g.38499809G=CA2335052947RYR1c.7202G= (p.Arg2401=)
c.7199G= (p.Arg2400=)
c.654G=
n.7285G=
19g.38499809G>TCA069235RYR1c.7202G>T (p.Arg2401Leu)
c.7199G>T (p.Arg2400Leu)
c.654G>T
n.7285G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499810G>ACA507353926RYR1c.7203G>A (p.Arg2401=)
c.7200G>A (p.Arg2400=)
c.655G>A
n.7286G>A
 gnomAD v4
19g.38499810G>CCA507353928RYR1c.7203G>C (p.Arg2401=)
c.7200G>C (p.Arg2400=)
c.655G>C
n.7286G>C
 gnomAD v4
19g.38499810G>TCA507353927RYR1c.7203G>T (p.Arg2401=)
c.7200G>T (p.Arg2400=)
c.655G>T
n.7286G>T
 gnomAD v4
19g.38499811C>ACA507353929RYR1c.7204C>A (p.Arg2402=)
c.7201C>A (p.Arg2401=)
c.656C>A
n.7287C>A
19g.38499811C=CA2335052948RYR1c.7204C= (p.Arg2402=)
c.7201C= (p.Arg2401=)
c.656C=
n.7287C=
19g.38499811C>GCA405668848RYR1c.7204C>G (p.Arg2402Gly)
c.7201C>G (p.Arg2401Gly)
c.656C>G
n.7287C>G
19g.38499811C>TCA069238RYR1c.7204C>T (p.Arg2402Trp)
c.7201C>T (p.Arg2401Trp)
c.656C>T
n.7287C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499812G>ACA082356RYR1c.7205G>A (p.Arg2402Gln)
c.7202G>A (p.Arg2401Gln)
c.657G>A
n.7288G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499812G>CCA405668856RYR1c.7205G>C (p.Arg2402Pro)
c.7202G>C (p.Arg2401Pro)
c.657G>C
n.7288G>C
 gnomAD v4
19g.38499812G=CA2335052949RYR1c.7205G= (p.Arg2402=)
c.7202G= (p.Arg2401=)
c.657G=
n.7288G=
19g.38499812G>TCA082357RYR1c.7205G>T (p.Arg2402Leu)
c.7202G>T (p.Arg2401Leu)
c.657G>T
n.7288G>T
19g.38499813G>ACA507353930RYR1c.7206G>A (p.Arg2402=)
c.7203G>A (p.Arg2401=)
c.658G>A
n.7289G>A
 ClinVar
19g.38499813G>CCA507353931RYR1c.7206G>C (p.Arg2402=)
c.7203G>C (p.Arg2401=)
c.658G>C
n.7289G>C

Number of alleles fetched