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.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
19g.38499821A>TCA405668921RYR1c.7214A>T (p.His2405Leu)
c.7211A>T (p.His2404Leu)
c.666A>T
n.7297A>T
19g.38499822G>ACA405668923RYR1c.7214+1G>A (n.7214+1G>A)
c.7211+1G>A (n.7211+1G>A)
c.666+1G>A
n.7297+1G>A
 dbSNP
19g.38499822G>CCA405668927RYR1c.7214+1G>C (n.7214+1G>C)
c.7211+1G>C (n.7211+1G>C)
c.666+1G>C
n.7297+1G>C
19g.38499822G=CA2335052956RYR1c.7214+1G= (n.7214+1G=)
c.7211+1G= (n.7211+1G=)
c.666+1G=
n.7297+1G=
19g.38499822G>TCA405668929RYR1c.7214+1G>T (n.7214+1G>T)
c.7211+1G>T (n.7211+1G>T)
c.666+1G>T
n.7297+1G>T
19g.38499823T>ACA405668935RYR1c.7214+2T>A (n.7214+2T>A)
c.7211+2T>A (n.7211+2T>A)
c.666+2T>A
n.7297+2T>A
19g.38499823T>CCA405668940RYR1c.7214+2T>C (n.7214+2T>C)
c.7211+2T>C (n.7211+2T>C)
c.666+2T>C
n.7297+2T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38499823T>GCA405668934RYR1c.7214+2T>G (n.7214+2T>G)
c.7211+2T>G (n.7211+2T>G)
c.666+2T>G
n.7297+2T>G
19g.38499823T=CA2335052957RYR1c.7214+2T= (n.7214+2T=)
c.7211+2T= (n.7211+2T=)
c.666+2T=
n.7297+2T=
19g.38499824G>ACA633066149RYR1c.7214+3G>A (n.7214+3G>A)
c.7211+3G>A (n.7211+3G>A)
c.666+3G>A
n.7297+3G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38499824G=CA2335052958RYR1c.7214+3G= (n.7214+3G=)
c.7211+3G= (n.7211+3G=)
c.666+3G=
n.7297+3G=
19g.38499828C>GCA2584900042RYR1c.7214+7C>G (n.7214+7C>G)
c.7211+7C>G (n.7211+7C>G)
c.666+7C>G
n.7297+7C>G
 gnomAD v4
19g.38499828C>TCA2584900043RYR1c.7214+7C>T (n.7214+7C>T)
c.7211+7C>T (n.7211+7C>T)
c.666+7C>T
n.7297+7C>T
 gnomAD v4
19g.38499829T>ACA2584900044RYR1c.7214+8T>A (n.7214+8T>A)
c.7211+8T>A (n.7211+8T>A)
c.666+8T>A
n.7297+8T>A
 gnomAD v4
19g.38499830C>ACA2584900045RYR1c.7214+9C>A (n.7214+9C>A)
c.7211+9C>A (n.7211+9C>A)
c.666+9C>A
n.7297+9C>A
 gnomAD v4
19g.38499830C>TCA2584900046RYR1c.7214+9C>T (n.7214+9C>T)
c.7211+9C>T (n.7211+9C>T)
c.666+9C>T
n.7297+9C>T
 gnomAD v4
19g.38499831C=CA2335052959RYR1c.7214+10C= (n.7214+10C=)
c.7211+10C= (n.7211+10C=)
c.666+10C=
n.7297+10C=
19g.38499831C>TCA069249RYR1c.7214+10C>T (n.7214+10C>T)
c.7211+10C>T (n.7211+10C>T)
c.666+10C>T
n.7297+10C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499832C>ACA2584900047RYR1c.7214+11C>A (n.7214+11C>A)
c.7211+11C>A (n.7211+11C>A)
c.666+11C>A
n.7297+11C>A
 gnomAD v4
19g.38499832C=CA2335052960RYR1c.7214+11C= (n.7214+11C=)
c.7211+11C= (n.7211+11C=)
c.666+11C=
n.7297+11C=
19g.38499832C>TCA069251RYR1c.7214+11C>T (n.7214+11C>T)
c.7211+11C>T (n.7211+11C>T)
c.666+11C>T
n.7297+11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499833G>ACA069254RYR1c.7214+12G>A (n.7214+12G>A)
c.7211+12G>A (n.7211+12G>A)
c.666+12G>A
n.7297+12G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499833G=CA2335052961RYR1c.7214+12G= (n.7214+12G=)
c.7211+12G= (n.7211+12G=)
c.666+12G=
n.7297+12G=
19g.38499834G>ACA069258RYR1c.7214+13G>A (n.7214+13G>A)
c.7211+13G>A (n.7211+13G>A)
c.666+13G>A
n.7297+13G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499834G=CA2335052962RYR1c.7214+13G= (n.7214+13G=)
c.7211+13G= (n.7211+13G=)
c.666+13G=
n.7297+13G=
19g.38499835C>ACA2584900048RYR1c.7214+14C>A (n.7214+14C>A)
c.7211+14C>A (n.7211+14C>A)
c.666+14C>A
n.7297+14C>A
 gnomAD v4

Number of alleles fetched