Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499961T>ACA024732RYR1c.7268T>A (p.Met2423Lys)
c.7265T>A (p.Met2422Lys)
c.720T>A
n.7351T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499961T>CCA405669357RYR1c.7268T>C (p.Met2423Thr)
c.7265T>C (p.Met2422Thr)
c.720T>C
n.7351T>C
 gnomAD v4
19g.38499961T>GCA405669358RYR1c.7268T>G (p.Met2423Arg)
c.7265T>G (p.Met2422Arg)
c.720T>G
n.7351T>G
19g.38499961T=CA2335053031RYR1c.7268T= (p.Met2423=)
c.7265T= (p.Met2422=)
c.720T=
n.7351T=
19g.38499962G>ACA405669361RYR1c.7269G>A (p.Met2423Ile)
c.7266G>A (p.Met2422Ile)
c.721G>A
n.7352G>A
19g.38499962G>CCA405669363RYR1c.7269G>C (p.Met2423Ile)
c.7266G>C (p.Met2422Ile)
c.721G>C
n.7352G>C
19g.38499962G>TCA405669364RYR1c.7269G>T (p.Met2423Ile)
c.7266G>T (p.Met2422Ile)
c.721G>T
n.7352G>T
19g.38499963T>ACA405669366RYR1c.7270T>A (p.Ser2424Thr)
c.7267T>A (p.Ser2423Thr)
c.722T>A
n.7353T>A
19g.38499963T>CCA405669367RYR1c.7270T>C (p.Ser2424Pro)
c.7267T>C (p.Ser2423Pro)
c.722T>C
n.7353T>C
19g.38499963T>GCA405669369RYR1c.7270T>G (p.Ser2424Ala)
c.7267T>G (p.Ser2423Ala)
c.722T>G
n.7353T>G
19g.38499964C>ACA405669373RYR1c.7271C>A (p.Ser2424Tyr)
c.7268C>A (p.Ser2423Tyr)
c.723C>A
n.7354C>A
19g.38499964C>GCA405669374RYR1c.7271C>G (p.Ser2424Cys)
c.7268C>G (p.Ser2423Cys)
c.723C>G
n.7354C>G
19g.38499964C>TCA405669377RYR1c.7271C>T (p.Ser2424Phe)
c.7268C>T (p.Ser2423Phe)
c.723C>T
n.7354C>T
19g.38499964_38499967delinsCCTTCA2335053032RYR1c.7271_7274delinsCCTT (p.Ser2424=)
c.7268_7271delinsCCTT (p.Ser2423=)
c.723_726delinsCCTT
n.7354_7357delinsCCTT
19g.38499965C>ACA507353753RYR1c.7272C>A (p.Ser2424=)
c.7269C>A (p.Ser2423=)
c.724C>A
n.7355C>A
19g.38499965C>GCA507353755RYR1c.7272C>G (p.Ser2424=)
c.7269C>G (p.Ser2423=)
c.724C>G
n.7355C>G
19g.38499965C>TCA507353754RYR1c.7272C>T (p.Ser2424=)
c.7269C>T (p.Ser2423=)
c.724C>T
n.7355C>T
19g.38499967_38499969delCA882051645RYR1c.7274_7276del (p.Phe2425del)
c.7271_7273del (p.Phe2424del)
c.726_728del
n.7357_7359del
 dbSNP gnomAD v3 gnomAD v4
19g.38499966T>ACA405669382RYR1c.7273T>A (p.Phe2425Ile)
c.7270T>A (p.Phe2424Ile)
c.725T>A
n.7356T>A
19g.38499966T>CCA405669388RYR1c.7273T>C (p.Phe2425Leu)
c.7270T>C (p.Phe2424Leu)
c.725T>C
n.7356T>C
19g.38499966T>GCA405669384RYR1c.7273T>G (p.Phe2425Val)
c.7270T>G (p.Phe2424Val)
c.725T>G
n.7356T>G
19g.38499967T>ACA405669390RYR1c.7274T>A (p.Phe2425Tyr)
c.7271T>A (p.Phe2424Tyr)
c.726T>A
n.7357T>A
19g.38499967T>CCA405669395RYR1c.7274T>C (p.Phe2425Ser)
c.7271T>C (p.Phe2424Ser)
c.726T>C
n.7357T>C
19g.38499967T>GCA405669396RYR1c.7274T>G (p.Phe2425Cys)
c.7271T>G (p.Phe2424Cys)
c.726T>G
n.7357T>G
19g.38499968C>ACA405669398RYR1c.7275C>A (p.Phe2425Leu)
c.7272C>A (p.Phe2424Leu)
c.727C>A
n.7358C>A
19g.38499968C>GCA405669399RYR1c.7275C>G (p.Phe2425Leu)
c.7272C>G (p.Phe2424Leu)
c.727C>G
n.7358C>G
19g.38499968C>TCA507353759RYR1c.7275C>T (p.Phe2425=)
c.7272C>T (p.Phe2424=)
c.727C>T
n.7358C>T
 ClinVar gnomAD v4
19g.38499969T>ACA405669403RYR1c.7276T>A (p.Tyr2426Asn)
c.7273T>A (p.Tyr2425Asn)
c.728T>A
n.7359T>A
19g.38499969T>CCA405669407RYR1c.7276T>C (p.Tyr2426His)
c.7273T>C (p.Tyr2425His)
c.728T>C
n.7359T>C
19g.38499969T>GCA405669410RYR1c.7276T>G (p.Tyr2426Asp)
c.7273T>G (p.Tyr2425Asp)
c.728T>G
n.7359T>G
19g.38499970A=CA2335053033RYR1c.7277A= (p.Tyr2426=)
c.7274A= (p.Tyr2425=)
c.729A=
n.7360A=
19g.38499970A>CCA405669413RYR1c.7277A>C (p.Tyr2426Ser)
c.7274A>C (p.Tyr2425Ser)
c.729A>C
n.7360A>C
 gnomAD v4
19g.38499970A>GCA405669417RYR1c.7277A>G (p.Tyr2426Cys)
c.7274A>G (p.Tyr2425Cys)
c.729A>G
n.7360A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38499970A>TCA405669419RYR1c.7277A>T (p.Tyr2426Phe)
c.7274A>T (p.Tyr2425Phe)
c.729A>T
n.7360A>T
19g.38499971T>ACA405669421RYR1c.7278T>A (p.Tyr2426Ter)
c.7275T>A (p.Tyr2425Ter)
c.730T>A
n.7361T>A
19g.38499971T>CCA507353761RYR1c.7278T>C (p.Tyr2426=)
c.7275T>C (p.Tyr2425=)
c.730T>C
n.7361T>C
 ClinVar dbSNP gnomAD v4
19g.38499971T>GCA405669422RYR1c.7278T>G (p.Tyr2426Ter)
c.7275T>G (p.Tyr2425Ter)
c.730T>G
n.7361T>G
19g.38499972G>ACA405669427RYR1c.7279G>A (p.Ala2427Thr)
c.7276G>A (p.Ala2426Thr)
c.731G>A
n.7362G>A
19g.38499972G>CCA405669432RYR1c.7279G>C (p.Ala2427Pro)
c.7276G>C (p.Ala2426Pro)
c.731G>C
n.7362G>C
19g.38499972G>TCA405669428RYR1c.7279G>T (p.Ala2427Ser)
c.7276G>T (p.Ala2426Ser)
c.731G>T
n.7362G>T
19g.38499973C>ACA405669437RYR1c.7280C>A (p.Ala2427Asp)
c.7277C>A (p.Ala2426Asp)
c.732C>A
n.7363C>A
19g.38499973C>GCA405669441RYR1c.7280C>G (p.Ala2427Gly)
c.7277C>G (p.Ala2426Gly)
c.732C>G
n.7363C>G
19g.38499973C>TCA405669443RYR1c.7280C>T (p.Ala2427Val)
c.7277C>T (p.Ala2426Val)
c.732C>T
n.7363C>T
 gnomAD v4 COSMIC
19g.38499974C>ACA507353765RYR1c.7281C>A (p.Ala2427=)
c.7278C>A (p.Ala2426=)
c.733C>A
n.7364C>A
19g.38499974C=CA2335053034RYR1c.7281C= (p.Ala2427=)
c.7278C= (p.Ala2426=)
c.733C=
n.7364C=
19g.38499974C>GCA507353766RYR1c.7281C>G (p.Ala2427=)
c.7278C>G (p.Ala2426=)
c.733C>G
n.7364C>G
19g.38499974C>TCA024735RYR1c.7281C>T (p.Ala2427=)
c.7278C>T (p.Ala2426=)
c.733C>T
n.7364C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499975G>ACA024738RYR1c.7282G>A (p.Ala2428Thr)
c.7279G>A (p.Ala2427Thr)
c.734G>A
n.7365G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499975G>CCA405669465RYR1c.7282G>C (p.Ala2428Pro)
c.7279G>C (p.Ala2427Pro)
c.734G>C
n.7365G>C
19g.38499975G=CA2335053035RYR1c.7282G= (p.Ala2428=)
c.7279G= (p.Ala2427=)
c.734G=
n.7365G=

Number of alleles fetched