Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499806_38499830delinsACCGGCGGCGCGAGCAGTGAGTCTCCA2335052944RYR1c.7199_7214+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
c.7196_7211+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
c.651_666+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
n.7282_7297+9delinsACCGGCGGCGCGAGCAGTGAGTCTC
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.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
19g.38499813G>TCA507353932RYR1c.7206G>T (p.Arg2402=)
c.7203G>T (p.Arg2401=)
c.658G>T
n.7289G>T
19g.38499814C>ACA405668859RYR1c.7207C>A (p.Arg2403Ser)
c.7204C>A (p.Arg2402Ser)
c.659C>A
n.7290C>A
19g.38499814C=CA2335052950RYR1c.7207C= (p.Arg2403=)
c.7204C= (p.Arg2402=)
c.659C=
n.7290C=
19g.38499814C>GCA405668861RYR1c.7207C>G (p.Arg2403Gly)
c.7204C>G (p.Arg2402Gly)
c.659C>G
n.7290C>G
19g.38499814C>TCA082358RYR1c.7207C>T (p.Arg2403Cys)
c.7204C>T (p.Arg2402Cys)
c.659C>T
n.7290C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38499815G>ACA069241RYR1c.7208G>A (p.Arg2403His)
c.7205G>A (p.Arg2402His)
c.660G>A
n.7291G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499815G>CCA405668869RYR1c.7208G>C (p.Arg2403Pro)
c.7205G>C (p.Arg2402Pro)
c.660G>C
n.7291G>C
19g.38499815G=CA2335052951RYR1c.7208G= (p.Arg2403=)
c.7205G= (p.Arg2402=)
c.660G=
n.7291G=
19g.38499815G>TCA405668871RYR1c.7208G>T (p.Arg2403Leu)
c.7205G>T (p.Arg2402Leu)
c.660G>T
n.7291G>T
 dbSNP gnomAD v4
19g.38499815_38499816delinsATCA2697556575RYR1c.7208_7209delinsAT (p.Arg2403His)
c.7205_7206delinsAT (p.Arg2402His)
c.660_661delinsAT
n.7291_7292delinsAT
 ClinVar
19g.38499816C>ACA507353933RYR1c.7209C>A (p.Arg2403=)
c.7206C>A (p.Arg2402=)
c.661C>A
n.7292C>A
 dbSNP
19g.38499816C=CA2335052952RYR1c.7209C= (p.Arg2403=)
c.7206C= (p.Arg2402=)
c.661C=
n.7292C=
19g.38499816C>GCA507353934RYR1c.7209C>G (p.Arg2403=)
c.7206C>G (p.Arg2402=)
c.661C>G
n.7292C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38499816C>TCA024721RYR1c.7209C>T (p.Arg2403=)
c.7206C>T (p.Arg2402=)
c.661C>T
n.7292C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499817G>ACA024723RYR1c.7210G>A (p.Glu2404Lys)
c.7207G>A (p.Glu2403Lys)
c.662G>A
n.7293G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499817G>CCA405668877RYR1c.7210G>C (p.Glu2404Gln)
c.7207G>C (p.Glu2403Gln)
c.662G>C
n.7293G>C
19g.38499817G=CA2335052953RYR1c.7210G= (p.Glu2404=)
c.7207G= (p.Glu2403=)
c.662G=
n.7293G=
19g.38499817G>TCA405668873RYR1c.7210G>T (p.Glu2404Ter)
c.7207G>T (p.Glu2403Ter)
c.662G>T
n.7293G>T
 ClinVar dbSNP gnomAD v4
19g.38499818A=CA2335052954RYR1c.7211A= (p.Glu2404=)
c.7208A= (p.Glu2403=)
c.663A=
n.7294A=
19g.38499818A>CCA405668898RYR1c.7211A>C (p.Glu2404Ala)
c.7208A>C (p.Glu2403Ala)
c.663A>C
n.7294A>C
19g.38499818A>GCA405668899RYR1c.7211A>G (p.Glu2404Gly)
c.7208A>G (p.Glu2403Gly)
c.663A>G
n.7294A>G
 dbSNP
19g.38499818A>TCA405668900RYR1c.7211A>T (p.Glu2404Val)
c.7208A>T (p.Glu2403Val)
c.663A>T
n.7294A>T
19g.38499819G>ACA507353935RYR1c.7212G>A (p.Glu2404=)
c.7209G>A (p.Glu2403=)
c.664G>A
n.7295G>A
 ClinVar dbSNP gnomAD v4
19g.38499819G>CCA405668901RYR1c.7212G>C (p.Glu2404Asp)
c.7209G>C (p.Glu2403Asp)
c.664G>C
n.7295G>C
19g.38499819G=CA2335052955RYR1c.7212G= (p.Glu2404=)
c.7209G= (p.Glu2403=)
c.664G=
n.7295G=
19g.38499819G>TCA405668903RYR1c.7212G>T (p.Glu2404Asp)
c.7209G>T (p.Glu2403Asp)
c.664G>T
n.7295G>T
19g.38499820C>ACA405668914RYR1c.7213C>A (p.His2405Asn)
c.7210C>A (p.His2404Asn)
c.665C>A
n.7296C>A
19g.38499820C>GCA405668906RYR1c.7213C>G (p.His2405Asp)
c.7210C>G (p.His2404Asp)
c.665C>G
n.7296C>G
19g.38499820C>TCA405668912RYR1c.7213C>T (p.His2405Tyr)
c.7210C>T (p.His2404Tyr)
c.665C>T
n.7296C>T
19g.38499821A>CCA405668917RYR1c.7214A>C (p.His2405Pro)
c.7211A>C (p.His2404Pro)
c.666A>C
n.7297A>C
19g.38499821A>GCA405668919RYR1c.7214A>G (p.His2405Arg)
c.7211A>G (p.His2404Arg)
c.666A>G
n.7297A>G

Number of alleles fetched