Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502883C>ACA405673513RYR1c.7839C>A (p.Tyr2613Ter)
c.7836C>A (p.Tyr2612Ter)
c.1291C>A
n.7922C>A
 dbSNP
19g.38502883C=CA2335054797RYR1c.7839C= (p.Tyr2613=)
c.7836C= (p.Tyr2612=)
c.1291C=
n.7922C=
19g.38502883C>GCA405673515RYR1c.7839C>G (p.Tyr2613Ter)
c.7836C>G (p.Tyr2612Ter)
c.1291C>G
n.7922C>G
19g.38502883C>TCA070806RYR1c.7839C>T (p.Tyr2613=)
c.7836C>T (p.Tyr2612=)
c.1291C>T
n.7922C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502884A=CA2335054798RYR1c.7840A= (p.Ile2614=)
c.7837A= (p.Ile2613=)
c.1292A=
n.7923A=
19g.38502884A>CCA405673518RYR1c.7840A>C (p.Ile2614Leu)
c.7837A>C (p.Ile2613Leu)
c.1292A>C
n.7923A>C
19g.38502884A>GCA405673521RYR1c.7840A>G (p.Ile2614Val)
c.7837A>G (p.Ile2613Val)
c.1292A>G
n.7923A>G
 dbSNP
19g.38502884A>TCA405673523RYR1c.7840A>T (p.Ile2614Phe)
c.7837A>T (p.Ile2613Phe)
c.1292A>T
n.7923A>T
19g.38502884_38502885insGGGGCCA082719RYR1c.7840_7841insGGGGC (p.Ile2614ArgfsTer?)
c.7837_7838insGGGGC (p.Ile2613ArgfsTer?)
c.1292_1293insGGGGC
n.7923_7924insGGGGC
19g.38502885T>ACA405673525RYR1c.7841T>A (p.Ile2614Asn)
c.7838T>A (p.Ile2613Asn)
c.1293T>A
n.7924T>A
 ClinVar dbSNP gnomAD v4
19g.38502885T>CCA405673527RYR1c.7841T>C (p.Ile2614Thr)
c.7838T>C (p.Ile2613Thr)
c.1293T>C
n.7924T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502885T>GCA405673529RYR1c.7841T>G (p.Ile2614Ser)
c.7838T>G (p.Ile2613Ser)
c.1293T>G
n.7924T>G
 gnomAD v4
19g.38502885T=CA2335054799RYR1c.7841T= (p.Ile2614=)
c.7838T= (p.Ile2613=)
c.1293T=
n.7924T=
19g.38502886C>ACA507354024RYR1c.7842C>A (p.Ile2614=)
c.7839C>A (p.Ile2613=)
c.1294C>A
n.7925C>A
19g.38502886C=CA2335054800RYR1c.7842C= (p.Ile2614=)
c.7839C= (p.Ile2613=)
c.1294C=
n.7925C=
19g.38502886C>GCA405673531RYR1c.7842C>G (p.Ile2614Met)
c.7839C>G (p.Ile2613Met)
c.1294C>G
n.7925C>G
 ClinVar gnomAD v4
19g.38502886C>TCA070814RYR1c.7842C>T (p.Ile2614=)
c.7839C>T (p.Ile2613=)
c.1294C>T
n.7925C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502886_38502887delinsAACA082762RYR1c.7842_7843delinsAA (p.Arg2615Ser)
c.7839_7840delinsAA (p.Arg2614Ser)
c.1294_1295delinsAA
n.7925_7926delinsAA
19g.38502887C>ACA405673540RYR1c.7843C>A (p.Arg2615Ser)
c.7840C>A (p.Arg2614Ser)
c.1295C>A
n.7926C>A
 gnomAD v4
19g.38502887C=CA2335054801RYR1c.7843C= (p.Arg2615=)
c.7840C= (p.Arg2614=)
c.1295C=
n.7926C=
19g.38502887C>GCA405673541RYR1c.7843C>G (p.Arg2615Gly)
c.7840C>G (p.Arg2614Gly)
c.1295C>G
n.7926C>G
 gnomAD v4
19g.38502887C>TCA405673535RYR1c.7843C>T (p.Arg2615Cys)
c.7840C>T (p.Arg2614Cys)
c.1295C>T
n.7926C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>ACA070820RYR1c.7844G>A (p.Arg2615His)
c.7841G>A (p.Arg2614His)
c.1296G>A
n.7927G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>CCA405673546RYR1c.7844G>C (p.Arg2615Pro)
c.7841G>C (p.Arg2614Pro)
c.1296G>C
n.7927G>C
 gnomAD v4
19g.38502888G=CA2335054802RYR1c.7844G= (p.Arg2615=)
c.7841G= (p.Arg2614=)
c.1296G=
n.7927G=
19g.38502888G>TCA405673547RYR1c.7844G>T (p.Arg2615Leu)
c.7841G>T (p.Arg2614Leu)
c.1296G>T
n.7927G>T
 gnomAD v4
19g.38502888_38502889delinsGCCA2335054803RYR1c.7844_7845delinsGC (p.Arg2615=)
c.7841_7842delinsGC (p.Arg2614=)
c.1296_1297delinsGC
n.7927_7928delinsGC
19g.38502889C>ACA507354030RYR1c.7845C>A (p.Arg2615=)
c.7842C>A (p.Arg2614=)
c.1297C>A
n.7928C>A
19g.38502889C=CA2335054804RYR1c.7845C= (p.Arg2615=)
c.7842C= (p.Arg2614=)
c.1297C=
n.7928C=
19g.38502889C>GCA082767RYR1c.7845C>G (p.Arg2615=)
c.7842C>G (p.Arg2614=)
c.1297C>G
n.7928C>G
 ClinVar gnomAD v4
19g.38502889C>TCA082769RYR1c.7845C>T (p.Arg2615=)
c.7842C>T (p.Arg2614=)
c.1297C>T
n.7928C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502891delCA1139666424RYR1c.7847del (p.Pro2616ArgfsTer?)
c.7844del (p.Pro2615ArgfsTer?)
c.1299del
n.7930del
 ClinVar dbSNP
19g.38502890C>ACA405673550RYR1c.7846C>A (p.Pro2616Thr)
c.7843C>A (p.Pro2615Thr)
c.1298C>A
n.7929C>A
 gnomAD v4
19g.38502890C>GCA405673553RYR1c.7846C>G (p.Pro2616Ala)
c.7843C>G (p.Pro2615Ala)
c.1298C>G
n.7929C>G
19g.38502890C>TCA405673565RYR1c.7846C>T (p.Pro2616Ser)
c.7843C>T (p.Pro2615Ser)
c.1298C>T
n.7929C>T
 ClinVar dbSNP gnomAD v4
19g.38502891C>ACA405673574RYR1c.7847C>A (p.Pro2616Gln)
c.7844C>A (p.Pro2615Gln)
c.1299C>A
n.7930C>A
19g.38502891C=CA2335054805RYR1c.7847C= (p.Pro2616=)
c.7844C= (p.Pro2615=)
c.1299C=
n.7930C=
19g.38502891C>GCA405673568RYR1c.7847C>G (p.Pro2616Arg)
c.7844C>G (p.Pro2615Arg)
c.1299C>G
n.7930C>G
 ClinVar dbSNP
19g.38502891C>TCA405673570RYR1c.7847C>T (p.Pro2616Leu)
c.7844C>T (p.Pro2615Leu)
c.1299C>T
n.7930C>T
 COSMIC
19g.38502892G>ACA070828RYR1c.7848G>A (p.Pro2616=)
c.7845G>A (p.Pro2615=)
c.1300G>A
n.7931G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502892G>CCA308113326RYR1c.7848G>C (p.Pro2616=)
c.7845G>C (p.Pro2615=)
c.1300G>C
n.7931G>C
 ClinVar dbSNP gnomAD v4
19g.38502892G=CA2335054806RYR1c.7848G= (p.Pro2616=)
c.7845G= (p.Pro2615=)
c.1300G=
n.7931G=
19g.38502892G>TCA507354034RYR1c.7848G>T (p.Pro2616=)
c.7845G>T (p.Pro2615=)
c.1300G>T
n.7931G>T
 ClinVar dbSNP gnomAD v4
19g.38502893T>ACA405673580RYR1c.7849T>A (p.Ser2617Thr)
c.7846T>A (p.Ser2616Thr)
c.1301T>A
n.7932T>A
19g.38502893T>CCA405673583RYR1c.7849T>C (p.Ser2617Pro)
c.7846T>C (p.Ser2616Pro)
c.1301T>C
n.7932T>C
 gnomAD v4
19g.38502893T>GCA405673586RYR1c.7849T>G (p.Ser2617Ala)
c.7846T>G (p.Ser2616Ala)
c.1301T>G
n.7932T>G
19g.38502894C>ACA405673588RYR1c.7850C>A (p.Ser2617Ter)
c.7847C>A (p.Ser2616Ter)
c.1302C>A
n.7933C>A
 ClinVar dbSNP
19g.38502894C=CA2335054807RYR1c.7850C= (p.Ser2617=)
c.7847C= (p.Ser2616=)
c.1302C=
n.7933C=
19g.38502894C>GCA082684RYR1c.7850C>G (p.Ser2617Trp)
c.7847C>G (p.Ser2616Trp)
c.1302C>G
n.7933C>G
 ClinVar
19g.38502894C>TCA070831RYR1c.7850C>T (p.Ser2617Leu)
c.7847C>T (p.Ser2616Leu)
c.1302C>T
n.7933C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502895G>ACA070838RYR1c.7851G>A (p.Ser2617=)
c.7848G>A (p.Ser2616=)
c.1303G>A
n.7934G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502895G>CCA507354036RYR1c.7851G>C (p.Ser2617=)
c.7848G>C (p.Ser2616=)
c.1303G>C
n.7934G>C
 gnomAD v4
19g.38502895G=CA2335054808RYR1c.7851G= (p.Ser2617=)
c.7848G= (p.Ser2616=)
c.1303G=
n.7934G=
19g.38502895G>TCA507354037RYR1c.7851G>T (p.Ser2617=)
c.7848G>T (p.Ser2616=)
c.1303G>T
n.7934G>T
 ClinVar dbSNP gnomAD v4
19g.38502896A=CA2335054809RYR1c.7852A= (p.Met2618=)
c.7849A= (p.Met2617=)
c.1304A=
n.7935A=
19g.38502896A>CCA405673605RYR1c.7852A>C (p.Met2618Leu)
c.7849A>C (p.Met2617Leu)
c.1304A>C
n.7935A>C
 gnomAD v4
19g.38502896A>GCA405673611RYR1c.7852A>G (p.Met2618Val)
c.7849A>G (p.Met2617Val)
c.1304A>G
n.7935A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502896A>TCA405673614RYR1c.7852A>T (p.Met2618Leu)
c.7849A>T (p.Met2617Leu)
c.1304A>T
n.7935A>T
19g.38502897T>ACA405673629RYR1c.7853T>A (p.Met2618Lys)
c.7850T>A (p.Met2617Lys)
c.1305T>A
n.7936T>A
 gnomAD v4
19g.38502897T>CCA070844RYR1c.7853T>C (p.Met2618Thr)
c.7850T>C (p.Met2617Thr)
c.1305T>C
n.7936T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502897T>GCA405673638RYR1c.7853T>G (p.Met2618Arg)
c.7850T>G (p.Met2617Arg)
c.1305T>G
n.7936T>G
 ClinVar gnomAD v4
19g.38502897T=CA2335054810RYR1c.7853T= (p.Met2618=)
c.7850T= (p.Met2617=)
c.1305T=
n.7936T=
19g.38502898G>ACA070853RYR1c.7854G>A (p.Met2618Ile)
c.7851G>A (p.Met2617Ile)
c.1306G>A
n.7937G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502898G>CCA405673645RYR1c.7854G>C (p.Met2618Ile)
c.7851G>C (p.Met2617Ile)
c.1306G>C
n.7937G>C
19g.38502898G=CA2335054811RYR1c.7854G= (p.Met2618=)
c.7851G= (p.Met2617=)
c.1306G=
n.7937G=
19g.38502898G>TCA405673648RYR1c.7854G>T (p.Met2618Ile)
c.7851G>T (p.Met2617Ile)
c.1306G>T
n.7937G>T
 gnomAD v4
19g.38502899delCA2584901126RYR1c.7855del (p.Leu2619CysfsTer?)
c.7852del (p.Leu2618CysfsTer?)
c.1307del
n.7938del
 gnomAD v4
19g.38502899C>ACA405673651RYR1c.7855C>A (p.Leu2619Met)
c.7852C>A (p.Leu2618Met)
c.1307C>A
n.7938C>A
19g.38502899C=CA2335054812RYR1c.7855C= (p.Leu2619=)
c.7852C= (p.Leu2618=)
c.1307C=
n.7938C=
19g.38502899C>GCA405673653RYR1c.7855C>G (p.Leu2619Val)
c.7852C>G (p.Leu2618Val)
c.1307C>G
n.7938C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502899C>TCA070859RYR1c.7855C>T (p.Leu2619=)
c.7852C>T (p.Leu2618=)
c.1307C>T
n.7938C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502900T>ACA405673656RYR1c.7856T>A (p.Leu2619Gln)
c.7853T>A (p.Leu2618Gln)
c.1308T>A
n.7939T>A
 dbSNP gnomAD v2
19g.38502900T>CCA082875RYR1c.7856T>C (p.Leu2619Pro)
c.7853T>C (p.Leu2618Pro)
c.1308T>C
n.7939T>C
 ClinVar dbSNP
19g.38502900T>GCA405673657RYR1c.7856T>G (p.Leu2619Arg)
c.7853T>G (p.Leu2618Arg)
c.1308T>G
n.7939T>G
19g.38502900T=CA2335054813RYR1c.7856T= (p.Leu2619=)
c.7853T= (p.Leu2618=)
c.1308T=
n.7939T=
19g.38502901_38502902insAGGGTGCA082695RYR1c.7857_7858insAGGGTG (p.Leu2619_Gln2620insArgVal)
c.7854_7855insAGGGTG (p.Leu2618_Gln2619insArgVal)
c.1309_1310insAGGGTG
n.7940_7941insAGGGTG
19g.38502901G>ACA070866RYR1c.7857G>A (p.Leu2619=)
c.7854G>A (p.Leu2618=)
c.1309G>A
n.7940G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502901G>CCA507354040RYR1c.7857G>C (p.Leu2619=)
c.7854G>C (p.Leu2618=)
c.1309G>C
n.7940G>C
 ClinVar dbSNP gnomAD v4
19g.38502901G=CA2335054814RYR1c.7857G= (p.Leu2619=)
c.7854G= (p.Leu2618=)
c.1309G=
n.7940G=
19g.38502901G>TCA507354039RYR1c.7857G>T (p.Leu2619=)
c.7854G>T (p.Leu2618=)
c.1309G>T
n.7940G>T
 gnomAD v4
19g.38502902C>ACA405673663RYR1c.7858C>A (p.Gln2620Lys)
c.7855C>A (p.Gln2619Lys)
c.1310C>A
n.7941C>A
 dbSNP
19g.38502902C=CA2335054815RYR1c.7858C= (p.Gln2620=)
c.7855C= (p.Gln2619=)
c.1310C=
n.7941C=
19g.38502902C>GCA405673659RYR1c.7858C>G (p.Gln2620Glu)
c.7855C>G (p.Gln2619Glu)
c.1310C>G
n.7941C>G
 gnomAD v4
19g.38502902C>TCA082877RYR1c.7858C>T (p.Gln2620Ter)
c.7855C>T (p.Gln2619Ter)
c.1310C>T
n.7941C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502903A=CA2335054816RYR1c.7859A= (p.Gln2620=)
c.7856A= (p.Gln2619=)
c.1311A=
n.7942A=
19g.38502903A>CCA405673674RYR1c.7859A>C (p.Gln2620Pro)
c.7856A>C (p.Gln2619Pro)
c.1311A>C
n.7942A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502903A>GCA405673676RYR1c.7859A>G (p.Gln2620Arg)
c.7856A>G (p.Gln2619Arg)
c.1311A>G
n.7942A>G
19g.38502903A>TCA405673680RYR1c.7859A>T (p.Gln2620Leu)
c.7856A>T (p.Gln2619Leu)
c.1311A>T
n.7942A>T
19g.38502904G>ACA070869RYR1c.7860G>A (p.Gln2620=)
c.7857G>A (p.Gln2619=)
c.1312G>A
n.7943G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502904G>CCA405673688RYR1c.7860G>C (p.Gln2620His)
c.7857G>C (p.Gln2619His)
c.1312G>C
n.7943G>C
19g.38502904G=CA2335054817RYR1c.7860G= (p.Gln2620=)
c.7857G= (p.Gln2619=)
c.1312G=
n.7943G=
19g.38502904G>TCA405673689RYR1c.7860G>T (p.Gln2620His)
c.7857G>T (p.Gln2619His)
c.1312G>T
n.7943G>T
19g.38502905C>ACA405673691RYR1c.7861C>A (p.His2621Asn)
c.7858C>A (p.His2620Asn)
c.1313C>A
n.7944C>A
19g.38502905C=CA2335054818RYR1c.7861C= (p.His2621=)
c.7858C= (p.His2620=)
c.1313C=
n.7944C=
19g.38502905C>GCA405673693RYR1c.7861C>G (p.His2621Asp)
c.7858C>G (p.His2620Asp)
c.1313C>G
n.7944C>G
19g.38502905C>TCA070877RYR1c.7861C>T (p.His2621Tyr)
c.7858C>T (p.His2620Tyr)
c.1313C>T
n.7944C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502906A=CA2335054819RYR1c.7862A= (p.His2621=)
c.7859A= (p.His2620=)
c.1314A=
n.7945A=
19g.38502906A>CCA405673706RYR1c.7862A>C (p.His2621Pro)
c.7859A>C (p.His2620Pro)
c.1314A>C
n.7945A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502906A>GCA405673700RYR1c.7862A>G (p.His2621Arg)
c.7859A>G (p.His2620Arg)
c.1314A>G
n.7945A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502906A>TCA405673703RYR1c.7862A>T (p.His2621Leu)
c.7859A>T (p.His2620Leu)
c.1314A>T
n.7945A>T
19g.38502907C>ACA405673709RYR1c.7863C>A (p.His2621Gln)
c.7860C>A (p.His2620Gln)
c.1315C>A
n.7946C>A
19g.38502907C=CA2335054820RYR1c.7863C= (p.His2621=)
c.7860C= (p.His2620=)
c.1315C=
n.7946C=
19g.38502907C>GCA405673729RYR1c.7863C>G (p.His2621Gln)
c.7860C>G (p.His2620Gln)
c.1315C>G
n.7946C>G
 ClinVar dbSNP gnomAD v4
19g.38502907C>TCA024868RYR1c.7863C>T (p.His2621=)
c.7860C>T (p.His2620=)
c.1315C>T
n.7946C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502907_38502908delinsCCCA2335054821RYR1c.7863_7864delinsCC (p.His2621=)
c.7860_7861delinsCC (p.His2620=)
c.1315_1316delinsCC
n.7946_7947delinsCC
19g.38502907_38502908delinsTTCA915952999RYR1c.7863_7864delinsTT (p.His2621=)
c.7860_7861delinsTT (p.His2620=)
c.1315_1316delinsTT
n.7946_7947delinsTT
 ClinVar dbSNP
19g.38502908C>ACA405673732RYR1c.7864C>A (p.Leu2622Met)
c.7861C>A (p.Leu2621Met)
c.1316C>A
n.7947C>A
19g.38502908C=CA2335054822RYR1c.7864C= (p.Leu2622=)
c.7861C= (p.Leu2621=)
c.1316C=
n.7947C=
19g.38502908C>GCA405673733RYR1c.7864C>G (p.Leu2622Val)
c.7861C>G (p.Leu2621Val)
c.1316C>G
n.7947C>G
 gnomAD v4
19g.38502908C>TCA082716RYR1c.7864C>T (p.Leu2622=)
c.7861C>T (p.Leu2621=)
c.1316C>T
n.7947C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502909T>ACA405673738RYR1c.7865T>A (p.Leu2622Gln)
c.7862T>A (p.Leu2621Gln)
c.1317T>A
n.7948T>A
19g.38502909T>CCA405673741RYR1c.7865T>C (p.Leu2622Pro)
c.7862T>C (p.Leu2621Pro)
c.1317T>C
n.7948T>C
 gnomAD v4
19g.38502909T>GCA405673744RYR1c.7865T>G (p.Leu2622Arg)
c.7862T>G (p.Leu2621Arg)
c.1317T>G
n.7948T>G
19g.38502911_38502913delCA082721RYR1c.7867_7869del (p.Leu2623del)
c.7864_7866del (p.Leu2622del)
c.1319_1321del
n.7950_7952del
19g.38502910G>ACA507354045RYR1c.7866G>A (p.Leu2622=)
c.7863G>A (p.Leu2621=)
c.1318G>A
n.7949G>A
 ClinVar dbSNP gnomAD v4
19g.38502910G>CCA507354046RYR1c.7866G>C (p.Leu2622=)
c.7863G>C (p.Leu2621=)
c.1318G>C
n.7949G>C
 ClinVar dbSNP
19g.38502910G=CA2335054823RYR1c.7866G= (p.Leu2622=)
c.7863G= (p.Leu2621=)
c.1318G=
n.7949G=
19g.38502910G>TCA507354047RYR1c.7866G>T (p.Leu2622=)
c.7863G>T (p.Leu2621=)
c.1318G>T
n.7949G>T
 ClinVar gnomAD v4
19g.38502911T>ACA405673746RYR1c.7867T>A (p.Leu2623Met)
c.7864T>A (p.Leu2622Met)
c.1319T>A
n.7950T>A
 gnomAD v4
19g.38502911T>CCA507354048RYR1c.7867T>C (p.Leu2623=)
c.7864T>C (p.Leu2622=)
c.1319T>C
n.7950T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502911T>GCA405673749RYR1c.7867T>G (p.Leu2623Val)
c.7864T>G (p.Leu2622Val)
c.1319T>G
n.7950T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502911T=CA2335054824RYR1c.7867T= (p.Leu2623=)
c.7864T= (p.Leu2622=)
c.1319T=
n.7950T=
19g.38502912T>ACA405673754RYR1c.7868T>A (p.Leu2623Ter)
c.7865T>A (p.Leu2622Ter)
c.1320T>A
n.7951T>A
19g.38502912T>CCA405673759RYR1c.7868T>C (p.Leu2623Ser)
c.7865T>C (p.Leu2622Ser)
c.1320T>C
n.7951T>C
19g.38502912T>GCA405673751RYR1c.7868T>G (p.Leu2623Trp)
c.7865T>G (p.Leu2622Trp)
c.1320T>G
n.7951T>G
19g.38502913G>ACA070899RYR1c.7869G>A (p.Leu2623=)
c.7866G>A (p.Leu2622=)
c.1321G>A
n.7952G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502913G>CCA405673763RYR1c.7869G>C (p.Leu2623Phe)
c.7866G>C (p.Leu2622Phe)
c.1321G>C
n.7952G>C
 ClinVar gnomAD v4
19g.38502913G=CA2335054825RYR1c.7869G= (p.Leu2623=)
c.7866G= (p.Leu2622=)
c.1321G=
n.7952G=
19g.38502913G>TCA405673776RYR1c.7869G>T (p.Leu2623Phe)
c.7866G>T (p.Leu2622Phe)
c.1321G>T
n.7952G>T
 gnomAD v4
19g.38502914C>ACA405673782RYR1c.7870C>A (p.Arg2624Ser)
c.7867C>A (p.Arg2623Ser)
c.1322C>A
n.7953C>A
19g.38502914C=CA2335054826RYR1c.7870C= (p.Arg2624=)
c.7867C= (p.Arg2623=)
c.1322C=
n.7953C=
19g.38502914C>GCA405673790RYR1c.7870C>G (p.Arg2624Gly)
c.7867C>G (p.Arg2623Gly)
c.1322C>G
n.7953C>G
 gnomAD v4
19g.38502914C>TCA082728RYR1c.7870C>T (p.Arg2624Cys)
c.7867C>T (p.Arg2623Cys)
c.1322C>T
n.7953C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502918_38502955delCA082731RYR1c.7874_7911del (p.Arg2625GlnfsTer12)
c.7871_7908del (p.Arg2624GlnfsTer12)
c.1326_1363del
n.7957_7994del
19g.38502915G>ACA405673794RYR1c.7871G>A (p.Arg2624His)
c.7868G>A (p.Arg2623His)
c.1323G>A
n.7954G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502915G>CCA405673797RYR1c.7871G>C (p.Arg2624Pro)
c.7868G>C (p.Arg2623Pro)
c.1323G>C
n.7954G>C
 ClinVar gnomAD v4
19g.38502915G=CA2335054827RYR1c.7871G= (p.Arg2624=)
c.7868G= (p.Arg2623=)
c.1323G=
n.7954G=
19g.38502915G>TCA405673799RYR1c.7871G>T (p.Arg2624Leu)
c.7868G>T (p.Arg2623Leu)
c.1323G>T
n.7954G>T
 gnomAD v4
19g.38502916C>ACA070913RYR1c.7872C>A (p.Arg2624=)
c.7869C>A (p.Arg2623=)
c.1324C>A
n.7955C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502916C=CA2335054828RYR1c.7872C= (p.Arg2624=)
c.7869C= (p.Arg2623=)
c.1324C=
n.7955C=
19g.38502916C>GCA308113415RYR1c.7872C>G (p.Arg2624=)
c.7869C>G (p.Arg2623=)
c.1324C>G
n.7955C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502916C>TCA024870RYR1c.7872C>T (p.Arg2624=)
c.7869C>T (p.Arg2623=)
c.1324C>T
n.7955C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502916_38502917delinsTTCA2573156352RYR1c.7872_7873delinsTT (p.Arg2625Cys)
c.7869_7870delinsTT (p.Arg2624Cys)
c.1324_1325delinsTT
n.7955_7956delinsTT
 ClinVar dbSNP
19g.38502917C>ACA405673804RYR1c.7873C>A (p.Arg2625Ser)
c.7870C>A (p.Arg2624Ser)
c.1325C>A
n.7956C>A
19g.38502917C=CA2335054829RYR1c.7873C= (p.Arg2625=)
c.7870C= (p.Arg2624=)
c.1325C=
n.7956C=
19g.38502917C>GCA405673801RYR1c.7873C>G (p.Arg2625Gly)
c.7870C>G (p.Arg2624Gly)
c.1325C>G
n.7956C>G
19g.38502917C>TCA070926RYR1c.7873C>T (p.Arg2625Cys)
c.7870C>T (p.Arg2624Cys)
c.1325C>T
n.7956C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502918G>ACA070928RYR1c.7874G>A (p.Arg2625His)
c.7871G>A (p.Arg2624His)
c.1326G>A
n.7957G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502918G>CCA405673814RYR1c.7874G>C (p.Arg2625Pro)
c.7871G>C (p.Arg2624Pro)
c.1326G>C
n.7957G>C
 ClinVar dbSNP
19g.38502918G=CA2335054830RYR1c.7874G= (p.Arg2625=)
c.7871G= (p.Arg2624=)
c.1326G=
n.7957G=
19g.38502918G>TCA070934RYR1c.7874G>T (p.Arg2625Leu)
c.7871G>T (p.Arg2624Leu)
c.1326G>T
n.7957G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502918_38502926delinsACA082738RYR1c.7874_7882delinsA (p.Arg2625HisfsTer22)
c.7871_7879delinsA (p.Arg2624HisfsTer22)
c.1326_1334delinsA
n.7957_7965delinsA
19g.38502919C>ACA082891RYR1c.7875C>A (p.Arg2625=)
c.7872C>A (p.Arg2624=)
c.1327C>A
n.7958C>A
 gnomAD v4
19g.38502919C=CA2335054831RYR1c.7875C= (p.Arg2625=)
c.7872C= (p.Arg2624=)
c.1327C=
n.7958C=
19g.38502919C>GCA070940RYR1c.7875C>G (p.Arg2625=)
c.7872C>G (p.Arg2624=)
c.1327C>G
n.7958C>G
 dbSNP ExAC gnomAD v4
19g.38502919C>TCA070942RYR1c.7875C>T (p.Arg2625=)
c.7872C>T (p.Arg2624=)
c.1327C>T
n.7958C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502920C>ACA405673819RYR1c.7876C>A (p.Leu2626Met)
c.7873C>A (p.Leu2625Met)
c.1328C>A
n.7959C>A
 gnomAD v4
19g.38502920C=CA2335054832RYR1c.7876C= (p.Leu2626=)
c.7873C= (p.Leu2625=)
c.1328C=
n.7959C=
19g.38502920C>GCA070948RYR1c.7876C>G (p.Leu2626Val)
c.7873C>G (p.Leu2625Val)
c.1328C>G
n.7959C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502920C>TCA070955RYR1c.7876C>T (p.Leu2626=)
c.7873C>T (p.Leu2625=)
c.1328C>T
n.7959C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502920_38502923delinsAGGCCA082745RYR1c.7876_7879delinsAGGC (p.Leu2626_Val2627delinsArgLeu)
c.7873_7876delinsAGGC (p.Leu2625_Val2626delinsArgLeu)
c.1328_1331delinsAGGC
n.7959_7962delinsAGGC
19g.38502921T>ACA405673834RYR1c.7877T>A (p.Leu2626Gln)
c.7874T>A (p.Leu2625Gln)
c.1329T>A
n.7960T>A
 dbSNP
19g.38502921T>CCA405673837RYR1c.7877T>C (p.Leu2626Pro)
c.7874T>C (p.Leu2625Pro)
c.1329T>C
n.7960T>C
19g.38502921T>GCA070956RYR1c.7877T>G (p.Leu2626Arg)
c.7874T>G (p.Leu2625Arg)
c.1329T>G
n.7960T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502921T=CA2335054833RYR1c.7877T= (p.Leu2626=)
c.7874T= (p.Leu2625=)
c.1329T=
n.7960T=
19g.38502922G>ACA070962RYR1c.7878G>A (p.Leu2626=)
c.7875G>A (p.Leu2625=)
c.1330G>A
n.7961G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502922G>CCA070963RYR1c.7878G>C (p.Leu2626=)
c.7875G>C (p.Leu2625=)
c.1330G>C
n.7961G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502922G=CA2335054834RYR1c.7878G= (p.Leu2626=)
c.7875G= (p.Leu2625=)
c.1330G=
n.7961G=
19g.38502922G>TCA507354059RYR1c.7878G>T (p.Leu2626=)
c.7875G>T (p.Leu2625=)
c.1330G>T
n.7961G>T
 gnomAD v4
19g.38502923G>ACA405673885RYR1c.7879G>A (p.Val2627Met)
c.7876G>A (p.Val2626Met)
c.1331G>A
n.7962G>A
 ClinVar dbSNP gnomAD v4
19g.38502923G>CCA308113474RYR1c.7879G>C (p.Val2627Leu)
c.7876G>C (p.Val2626Leu)
c.1331G>C
n.7962G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502923G=CA2335054835RYR1c.7879G= (p.Val2627=)
c.7876G= (p.Val2626=)
c.1331G=
n.7962G=
19g.38502923G>TCA405673868RYR1c.7879G>T (p.Val2627Leu)
c.7876G>T (p.Val2626Leu)
c.1331G>T
n.7962G>T
 gnomAD v4
19g.38502924T>ACA405673889RYR1c.7880T>A (p.Val2627Glu)
c.7877T>A (p.Val2626Glu)
c.1332T>A
n.7963T>A
19g.38502924T>CCA070969RYR1c.7880T>C (p.Val2627Ala)
c.7877T>C (p.Val2626Ala)
c.1332T>C
n.7963T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502924T>GCA082908RYR1c.7880T>G (p.Val2627Gly)
c.7877T>G (p.Val2626Gly)
c.1332T>G
n.7963T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502924T=CA2335054836RYR1c.7880T= (p.Val2627=)
c.7877T= (p.Val2626=)
c.1332T=
n.7963T=
19g.38502924_38502939delinsACA082754RYR1c.7880_7895delinsA (p.Val2627_Ile2632delinsAsp)
c.7877_7892delinsA (p.Val2626_Ile2631delinsAsp)
c.1332_1347delinsA
n.7963_7978delinsA
19g.38502925G>ACA070973RYR1c.7881G>A (p.Val2627=)
c.7878G>A (p.Val2626=)
c.1333G>A
n.7964G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502925G>CCA082912RYR1c.7881G>C (p.Val2627=)
c.7878G>C (p.Val2626=)
c.1333G>C
n.7964G>C
19g.38502925G=CA2335054837RYR1c.7881G= (p.Val2627=)
c.7878G= (p.Val2626=)
c.1333G=
n.7964G=
19g.38502925G>TCA507354060RYR1c.7881G>T (p.Val2627=)
c.7878G>T (p.Val2626=)
c.1333G>T
n.7964G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502926_38502929delCA082759RYR1c.7882_7885del (p.Phe2628ThrfsTer?)
c.7879_7882del (p.Phe2627ThrfsTer?)
c.1334_1337del
n.7965_7968del
19g.38502926T>ACA405673894RYR1c.7882T>A (p.Phe2628Ile)
c.7879T>A (p.Phe2627Ile)
c.1334T>A
n.7965T>A
19g.38502926T>CCA405673906RYR1c.7882T>C (p.Phe2628Leu)
c.7879T>C (p.Phe2627Leu)
c.1334T>C
n.7965T>C
19g.38502926T>GCA405673917RYR1c.7882T>G (p.Phe2628Val)
c.7879T>G (p.Phe2627Val)
c.1334T>G
n.7965T>G
19g.38502927T>ACA405673932RYR1c.7883T>A (p.Phe2628Tyr)
c.7880T>A (p.Phe2627Tyr)
c.1335T>A
n.7966T>A
19g.38502927T>CCA082915RYR1c.7883T>C (p.Phe2628Ser)
c.7880T>C (p.Phe2627Ser)
c.1335T>C
n.7966T>C
19g.38502927T>GCA405673943RYR1c.7883T>G (p.Phe2628Cys)
c.7880T>G (p.Phe2627Cys)
c.1335T>G
n.7966T>G
19g.38502928C>ACA405673944RYR1c.7884C>A (p.Phe2628Leu)
c.7881C>A (p.Phe2627Leu)
c.1336C>A
n.7967C>A
19g.38502928C=CA2335054838RYR1c.7884C= (p.Phe2628=)
c.7881C= (p.Phe2627=)
c.1336C=
n.7967C=
19g.38502928C>GCA405673948RYR1c.7884C>G (p.Phe2628Leu)
c.7881C>G (p.Phe2627Leu)
c.1336C>G
n.7967C>G
19g.38502928C>TCA070978RYR1c.7884C>T (p.Phe2628=)
c.7881C>T (p.Phe2627=)
c.1336C>T
n.7967C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502929G>ACA405673949RYR1c.7885G>A (p.Asp2629Asn)
c.7882G>A (p.Asp2628Asn)
c.1337G>A
n.7968G>A
 dbSNP gnomAD v2
19g.38502929G>CCA405673950RYR1c.7885G>C (p.Asp2629His)
c.7882G>C (p.Asp2628His)
c.1337G>C
n.7968G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502929G=CA2335054839RYR1c.7885G= (p.Asp2629=)
c.7882G= (p.Asp2628=)
c.1337G=
n.7968G=
19g.38502929G>TCA405673951RYR1c.7885G>T (p.Asp2629Tyr)
c.7882G>T (p.Asp2628Tyr)
c.1337G>T
n.7968G>T
19g.38502930A>CCA405673955RYR1c.7886A>C (p.Asp2629Ala)
c.7883A>C (p.Asp2628Ala)
c.1338A>C
n.7969A>C
 gnomAD v4
19g.38502930A>GCA405673952RYR1c.7886A>G (p.Asp2629Gly)
c.7883A>G (p.Asp2628Gly)
c.1338A>G
n.7969A>G
19g.38502930A>TCA405673953RYR1c.7886A>T (p.Asp2629Val)
c.7883A>T (p.Asp2628Val)
c.1338A>T
n.7969A>T
 gnomAD v4
19g.38502931C>ACA405673961RYR1c.7887C>A (p.Asp2629Glu)
c.7884C>A (p.Asp2628Glu)
c.1339C>A
n.7970C>A
 ClinVar gnomAD v4
19g.38502931C=CA2335054840RYR1c.7887C= (p.Asp2629=)
c.7884C= (p.Asp2628=)
c.1339C=
n.7970C=
19g.38502931C>GCA070983RYR1c.7887C>G (p.Asp2629Glu)
c.7884C>G (p.Asp2628Glu)
c.1339C>G
n.7970C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502931C>TCA070988RYR1c.7887C>T (p.Asp2629=)
c.7884C>T (p.Asp2628=)
c.1339C>T
n.7970C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502932G>ACA070994RYR1c.7888G>A (p.Val2630Met)
c.7885G>A (p.Val2629Met)
c.1340G>A
n.7971G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502932G>CCA024872RYR1c.7888G>C (p.Val2630Leu)
c.7885G>C (p.Val2629Leu)
c.1340G>C
n.7971G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502932G=CA2335054841RYR1c.7888G= (p.Val2630=)
c.7885G= (p.Val2629=)
c.1340G=
n.7971G=
19g.38502932G>TCA405673969RYR1c.7888G>T (p.Val2630Leu)
c.7885G>T (p.Val2629Leu)
c.1340G>T
n.7971G>T
 gnomAD v4
19g.38502933T>ACA405673970RYR1c.7889T>A (p.Val2630Glu)
c.7886T>A (p.Val2629Glu)
c.1341T>A
n.7972T>A
19g.38502933T>CCA405673972RYR1c.7889T>C (p.Val2630Ala)
c.7886T>C (p.Val2629Ala)
c.1341T>C
n.7972T>C
19g.38502933T>GCA405673975RYR1c.7889T>G (p.Val2630Gly)
c.7886T>G (p.Val2629Gly)
c.1341T>G
n.7972T>G
19g.38502934G>ACA507354069RYR1c.7890G>A (p.Val2630=)
c.7887G>A (p.Val2629=)
c.1342G>A
n.7973G>A
 ClinVar dbSNP gnomAD v4
19g.38502934G>CCA10587321RYR1c.7890G>C (p.Val2630=)
c.7887G>C (p.Val2629=)
c.1342G>C
n.7973G>C
 ClinVar dbSNP gnomAD v4
19g.38502934G=CA2335054842RYR1c.7890G= (p.Val2630=)
c.7887G= (p.Val2629=)
c.1342G=
n.7973G=
19g.38502934G>TCA082921RYR1c.7890G>T (p.Val2630=)
c.7887G>T (p.Val2629=)
c.1342G>T
n.7973G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502935C>ACA405674000RYR1c.7891C>A (p.Pro2631Thr)
c.7888C>A (p.Pro2630Thr)
c.1343C>A
n.7974C>A
19g.38502935C>GCA405673998RYR1c.7891C>G (p.Pro2631Ala)
c.7888C>G (p.Pro2630Ala)
c.1343C>G
n.7974C>G
19g.38502935C>TCA405673989RYR1c.7891C>T (p.Pro2631Ser)
c.7888C>T (p.Pro2630Ser)
c.1343C>T
n.7974C>T
 gnomAD v4 COSMIC
19g.38502937delCA2584901127RYR1c.7893del (p.Ile2632SerfsTer?)
c.7890del (p.Ile2631SerfsTer?)
c.1345del
n.7976del
 gnomAD v4
19g.38502936C>ACA071003RYR1c.7892C>A (p.Pro2631His)
c.7889C>A (p.Pro2630His)
c.1344C>A
n.7975C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502936C=CA2335054843RYR1c.7892C= (p.Pro2631=)
c.7889C= (p.Pro2630=)
c.1344C=
n.7975C=
19g.38502936C>GCA405674009RYR1c.7892C>G (p.Pro2631Arg)
c.7889C>G (p.Pro2630Arg)
c.1344C>G
n.7975C>G
19g.38502936C>TCA405674012RYR1c.7892C>T (p.Pro2631Leu)
c.7889C>T (p.Pro2630Leu)
c.1344C>T
n.7975C>T
 gnomAD v4 COSMIC
19g.38502937C>ACA507354075RYR1c.7893C>A (p.Pro2631=)
c.7890C>A (p.Pro2630=)
c.1345C>A
n.7976C>A
 gnomAD v4
19g.38502937C=CA2335054844RYR1c.7893C= (p.Pro2631=)
c.7890C= (p.Pro2630=)
c.1345C=
n.7976C=
19g.38502937C>GCA507354076RYR1c.7893C>G (p.Pro2631=)
c.7890C>G (p.Pro2630=)
c.1345C>G
n.7976C>G
19g.38502937C>TCA071008RYR1c.7893C>T (p.Pro2631=)
c.7890C>T (p.Pro2630=)
c.1345C>T
n.7976C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502938A=CA2335054845RYR1c.7894A= (p.Ile2632=)
c.7891A= (p.Ile2631=)
c.1346A=
n.7977A=
19g.38502938A>CCA405674020RYR1c.7894A>C (p.Ile2632Leu)
c.7891A>C (p.Ile2631Leu)
c.1346A>C
n.7977A>C
19g.38502938A>GCA405674022RYR1c.7894A>G (p.Ile2632Val)
c.7891A>G (p.Ile2631Val)
c.1346A>G
n.7977A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502938A>TCA405674027RYR1c.7894A>T (p.Ile2632Phe)
c.7891A>T (p.Ile2631Phe)
c.1346A>T
n.7977A>T
19g.38502939T>ACA405674041RYR1c.7895T>A (p.Ile2632Asn)
c.7892T>A (p.Ile2631Asn)
c.1347T>A
n.7978T>A
19g.38502939T>CCA405674049RYR1c.7895T>C (p.Ile2632Thr)
c.7892T>C (p.Ile2631Thr)
c.1347T>C
n.7978T>C
19g.38502939T>GCA405674047RYR1c.7895T>G (p.Ile2632Ser)
c.7892T>G (p.Ile2631Ser)
c.1347T>G
n.7978T>G
19g.38502941_38502943delCA2584901128RYR1c.7897_7899del (p.Leu2633del)
c.7894_7896del (p.Leu2632del)
c.1349_1351del
n.7980_7982del
 gnomAD v4
19g.38502940C>ACA507354078RYR1c.7896C>A (p.Ile2632=)
c.7893C>A (p.Ile2631=)
c.1348C>A
n.7979C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502940C=CA2335054846RYR1c.7896C= (p.Ile2632=)
c.7893C= (p.Ile2631=)
c.1348C=
n.7979C=
19g.38502940C>GCA308113557RYR1c.7896C>G (p.Ile2632Met)
c.7893C>G (p.Ile2631Met)
c.1348C>G
n.7979C>G
 dbSNP gnomAD v4
19g.38502940C>TCA082929RYR1c.7896C>T (p.Ile2632=)
c.7893C>T (p.Ile2631=)
c.1348C>T
n.7979C>T
19g.38502941C>ACA405674059RYR1c.7897C>A (p.Leu2633Ile)
c.7894C>A (p.Leu2632Ile)
c.1349C>A
n.7980C>A
 gnomAD v4
19g.38502941C=CA2335054847RYR1c.7897C= (p.Leu2633=)
c.7894C= (p.Leu2632=)
c.1349C=
n.7980C=
19g.38502941C>GCA071011RYR1c.7897C>G (p.Leu2633Val)
c.7894C>G (p.Leu2632Val)
c.1349C>G
n.7980C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502941C>TCA405674061RYR1c.7897C>T (p.Leu2633Phe)
c.7894C>T (p.Leu2632Phe)
c.1349C>T
n.7980C>T
19g.38502942T>ACA405674065RYR1c.7898T>A (p.Leu2633His)
c.7895T>A (p.Leu2632His)
c.1350T>A
n.7981T>A
19g.38502942T>CCA405674069RYR1c.7898T>C (p.Leu2633Pro)
c.7895T>C (p.Leu2632Pro)
c.1350T>C
n.7981T>C
19g.38502942T>GCA405674067RYR1c.7898T>G (p.Leu2633Arg)
c.7895T>G (p.Leu2632Arg)
c.1350T>G
n.7981T>G
19g.38502943C>ACA507354083RYR1c.7899C>A (p.Leu2633=)
c.7896C>A (p.Leu2632=)
c.1351C>A
n.7982C>A
 gnomAD v4
19g.38502943C=CA2335054848RYR1c.7899C= (p.Leu2633=)
c.7896C= (p.Leu2632=)
c.1351C=
n.7982C=
19g.38502943C>GCA507354085RYR1c.7899C>G (p.Leu2633=)
c.7896C>G (p.Leu2632=)
c.1351C>G
n.7982C>G
 dbSNP
19g.38502943C>TCA507354084RYR1c.7899C>T (p.Leu2633=)
c.7896C>T (p.Leu2632=)
c.1351C>T
n.7982C>T
19g.38502944A>CCA405674070RYR1c.7900A>C (p.Asn2634His)
c.7897A>C (p.Asn2633His)
c.1352A>C
n.7983A>C
19g.38502944A>GCA405674072RYR1c.7900A>G (p.Asn2634Asp)
c.7897A>G (p.Asn2633Asp)
c.1352A>G
n.7983A>G
 gnomAD v4
19g.38502944A>TCA405674075RYR1c.7900A>T (p.Asn2634Tyr)
c.7897A>T (p.Asn2633Tyr)
c.1352A>T
n.7983A>T
19g.38502945A=CA2335054849RYR1c.7901A= (p.Asn2634=)
c.7898A= (p.Asn2633=)
c.1353A=
n.7984A=
19g.38502945A>CCA405674091RYR1c.7901A>C (p.Asn2634Thr)
c.7898A>C (p.Asn2633Thr)
c.1353A>C
n.7984A>C
19g.38502945A>GCA405674110RYR1c.7901A>G (p.Asn2634Ser)
c.7898A>G (p.Asn2633Ser)
c.1353A>G
n.7984A>G
 dbSNP gnomAD v4
19g.38502945A>TCA405674113RYR1c.7901A>T (p.Asn2634Ile)
c.7898A>T (p.Asn2633Ile)
c.1353A>T
n.7984A>T
19g.38502946_38502948delCA2584901129RYR1c.7902_7904del (p.Asn2634_Glu2635delinsLys)
c.7899_7901del (p.Asn2633_Glu2634delinsLys)
c.1354_1356del
n.7985_7987del
 gnomAD v4
19g.38502946C>ACA071016RYR1c.7902C>A (p.Asn2634Lys)
c.7899C>A (p.Asn2633Lys)
c.1354C>A
n.7985C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502946C=CA2335054850RYR1c.7902C= (p.Asn2634=)
c.7899C= (p.Asn2633=)
c.1354C=
n.7985C=
19g.38502946C>GCA405674119RYR1c.7902C>G (p.Asn2634Lys)
c.7899C>G (p.Asn2633Lys)
c.1354C>G
n.7985C>G
19g.38502946C>TCA507354086RYR1c.7902C>T (p.Asn2634=)
c.7899C>T (p.Asn2633=)
c.1354C>T
n.7985C>T
 ClinVar dbSNP gnomAD v4
19g.38502947G>ACA308113562RYR1c.7903G>A (p.Glu2635Lys)
c.7900G>A (p.Glu2634Lys)
c.1355G>A
n.7986G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502947G>CCA071020RYR1c.7903G>C (p.Glu2635Gln)
c.7900G>C (p.Glu2634Gln)
c.1355G>C
n.7986G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502947G=CA2335054851RYR1c.7903G= (p.Glu2635=)
c.7900G= (p.Glu2634=)
c.1355G=
n.7986G=
19g.38502947G>TCA405674132RYR1c.7903G>T (p.Glu2635Ter)
c.7900G>T (p.Glu2634Ter)
c.1355G>T
n.7986G>T
 gnomAD v4
19g.38502948A=CA2335054852RYR1c.7904A= (p.Glu2635=)
c.7901A= (p.Glu2634=)
c.1356A=
n.7987A=
19g.38502948A>CCA405674137RYR1c.7904A>C (p.Glu2635Ala)
c.7901A>C (p.Glu2634Ala)
c.1356A>C
n.7987A>C
 gnomAD v4
19g.38502948A>GCA405674140RYR1c.7904A>G (p.Glu2635Gly)
c.7901A>G (p.Glu2634Gly)
c.1356A>G
n.7987A>G
19g.38502948A>TCA071025RYR1c.7904A>T (p.Glu2635Val)
c.7901A>T (p.Glu2634Val)
c.1356A>T
n.7987A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502949G>ACA507354091RYR1c.7905G>A (p.Glu2635=)
c.7902G>A (p.Glu2634=)
c.1357G>A
n.7988G>A
19g.38502949G>CCA405674143RYR1c.7905G>C (p.Glu2635Asp)
c.7902G>C (p.Glu2634Asp)
c.1357G>C
n.7988G>C
19g.38502949G>TCA405674147RYR1c.7905G>T (p.Glu2635Asp)
c.7902G>T (p.Glu2634Asp)
c.1357G>T
n.7988G>T
 gnomAD v4
19g.38502950T>ACA405674151RYR1c.7906T>A (p.Phe2636Ile)
c.7903T>A (p.Phe2635Ile)
c.1358T>A
n.7989T>A
19g.38502950T>CCA405674170RYR1c.7906T>C (p.Phe2636Leu)
c.7903T>C (p.Phe2635Leu)
c.1358T>C
n.7989T>C
 gnomAD v4
19g.38502950T>GCA405674157RYR1c.7906T>G (p.Phe2636Val)
c.7903T>G (p.Phe2635Val)
c.1358T>G
n.7989T>G
19g.38502951T>ACA405674173RYR1c.7907T>A (p.Phe2636Tyr)
c.7904T>A (p.Phe2635Tyr)
c.1359T>A
n.7990T>A
19g.38502951T>CCA405674179RYR1c.7907T>C (p.Phe2636Ser)
c.7904T>C (p.Phe2635Ser)
c.1359T>C
n.7990T>C
19g.38502951T>GCA405674182RYR1c.7907T>G (p.Phe2636Cys)
c.7904T>G (p.Phe2635Cys)
c.1359T>G
n.7990T>G
19g.38502952C>ACA405674186RYR1c.7908C>A (p.Phe2636Leu)
c.7905C>A (p.Phe2635Leu)
c.1360C>A
n.7991C>A
19g.38502952C=CA2335054853RYR1c.7908C= (p.Phe2636=)
c.7905C= (p.Phe2635=)
c.1360C=
n.7991C=
19g.38502952C>GCA405674191RYR1c.7908C>G (p.Phe2636Leu)
c.7905C>G (p.Phe2635Leu)
c.1360C>G
n.7991C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502952C>TCA507354095RYR1c.7908C>T (p.Phe2636=)
c.7905C>T (p.Phe2635=)
c.1360C>T
n.7991C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502953G>ACA405674196RYR1c.7909G>A (p.Ala2637Thr)
c.7906G>A (p.Ala2636Thr)
c.1361G>A
n.7992G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502953G>CCA405674199RYR1c.7909G>C (p.Ala2637Pro)
c.7906G>C (p.Ala2636Pro)
c.1361G>C
n.7992G>C
 ClinVar dbSNP
19g.38502953G=CA2335054854RYR1c.7909G= (p.Ala2637=)
c.7906G= (p.Ala2636=)
c.1361G=
n.7992G=
19g.38502953G>TCA405674200RYR1c.7909G>T (p.Ala2637Ser)
c.7906G>T (p.Ala2636Ser)
c.1361G>T
n.7992G>T
 ClinVar gnomAD v4
19g.38502954C>ACA405674203RYR1c.7910C>A (p.Ala2637Asp)
c.7907C>A (p.Ala2636Asp)
c.1362C>A
n.7993C>A
19g.38502954C>GCA405674207RYR1c.7910C>G (p.Ala2637Gly)
c.7907C>G (p.Ala2636Gly)
c.1362C>G
n.7993C>G
19g.38502954C>TCA405674208RYR1c.7910C>T (p.Ala2637Val)
c.7907C>T (p.Ala2636Val)
c.1362C>T
n.7993C>T
 gnomAD v4
19g.38502955C>ACA507354096RYR1c.7911C>A (p.Ala2637=)
c.7908C>A (p.Ala2636=)
c.1363C>A
n.7994C>A
19g.38502955C=CA2335054855RYR1c.7911C= (p.Ala2637=)
c.7908C= (p.Ala2636=)
c.1363C=
n.7994C=
19g.38502955C>GCA507354097RYR1c.7911C>G (p.Ala2637=)
c.7908C>G (p.Ala2636=)
c.1363C>G
n.7994C>G
19g.38502955C>TCA308113571RYR1c.7911C>T (p.Ala2637=)
c.7908C>T (p.Ala2636=)
c.1363C>T
n.7994C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502956A>CCA405674219RYR1c.7912A>C (p.Lys2638Gln)
c.7909A>C (p.Lys2637Gln)
c.1364A>C
n.7995A>C
19g.38502956A>GCA405674215RYR1c.7912A>G (p.Lys2638Glu)
c.7909A>G (p.Lys2637Glu)
c.1364A>G
n.7995A>G
19g.38502956A>TCA405674214RYR1c.7912A>T (p.Lys2638Ter)
c.7909A>T (p.Lys2637Ter)
c.1364A>T
n.7995A>T
19g.38502957A>CCA405674223RYR1c.7913A>C (p.Lys2638Thr)
c.7910A>C (p.Lys2637Thr)
c.1365A>C
n.7996A>C
19g.38502957A>GCA405674233RYR1c.7913A>G (p.Lys2638Arg)
c.7910A>G (p.Lys2637Arg)
c.1365A>G
n.7996A>G
19g.38502957A>TCA405674237RYR1c.7913A>T (p.Lys2638Met)
c.7910A>T (p.Lys2637Met)
c.1365A>T
n.7996A>T
19g.38502958G>ACA507354101RYR1c.7914G>A (p.Lys2638=)
c.7911G>A (p.Lys2637=)
c.1366G>A
n.7997G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502958G>CCA405674240RYR1c.7914G>C (p.Lys2638Asn)
c.7911G>C (p.Lys2637Asn)
c.1366G>C
n.7997G>C
19g.38502958G=CA2335054856RYR1c.7914G= (p.Lys2638=)
c.7911G= (p.Lys2637=)
c.1366G=
n.7997G=
19g.38502958G>TCA405674244RYR1c.7914G>T (p.Lys2638Asn)
c.7911G>T (p.Lys2637Asn)
c.1366G>T
n.7997G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502959A=CA2335054857RYR1c.7915A= (p.Met2639=)
c.7912A= (p.Met2638=)
c.1367A=
n.7998A=
19g.38502959A>CCA308113591RYR1c.7915A>C (p.Met2639Leu)
c.7912A>C (p.Met2638Leu)
c.1367A>C
n.7998A>C
 ClinVar dbSNP gnomAD v4
19g.38502959A>GCA405674250RYR1c.7915A>G (p.Met2639Val)
c.7912A>G (p.Met2638Val)
c.1367A>G
n.7998A>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502959A>TCA405674252RYR1c.7915A>T (p.Met2639Leu)
c.7912A>T (p.Met2638Leu)
c.1367A>T
n.7998A>T
19g.38502959dupCA507354102RYR1c.7915dup (p.Met2639AsnfsTer11)
c.7912dup (p.Met2638AsnfsTer11)
c.1367dup
n.7998dup
19g.38502960T>ACA405674254RYR1c.7916T>A (p.Met2639Lys)
c.7913T>A (p.Met2638Lys)
c.1368T>A
n.7999T>A
19g.38502960T>CCA405674257RYR1c.7916T>C (p.Met2639Thr)
c.7913T>C (p.Met2638Thr)
c.1368T>C
n.7999T>C
19g.38502960T>GCA405674261RYR1c.7916T>G (p.Met2639Arg)
c.7913T>G (p.Met2638Arg)
c.1368T>G
n.7999T>G
19g.38502961G>ACA405674264RYR1c.7917G>A (p.Met2639Ile)
c.7914G>A (p.Met2638Ile)
c.1369G>A
n.8000G>A
19g.38502961G>CCA405674263RYR1c.7917G>C (p.Met2639Ile)
c.7914G>C (p.Met2638Ile)
c.1369G>C
n.8000G>C
19g.38502961G>TCA405674262RYR1c.7917G>T (p.Met2639Ile)
c.7914G>T (p.Met2638Ile)
c.1369G>T
n.8000G>T
 gnomAD v4
19g.38502962C>ACA405674265RYR1c.7918C>A (p.Pro2640Thr)
c.7915C>A (p.Pro2639Thr)
c.1370C>A
n.8001C>A
 gnomAD v4
19g.38502962C=CA2335054858RYR1c.7918C= (p.Pro2640=)
c.7915C= (p.Pro2639=)
c.1370C=
n.8001C=
19g.38502962C>GCA405674266RYR1c.7918C>G (p.Pro2640Ala)
c.7915C>G (p.Pro2639Ala)
c.1370C>G
n.8001C>G
19g.38502962C>TCA405674267RYR1c.7918C>T (p.Pro2640Ser)
c.7915C>T (p.Pro2639Ser)
c.1370C>T
n.8001C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502963C>ACA405674269RYR1c.7919C>A (p.Pro2640Gln)
c.7916C>A (p.Pro2639Gln)
c.1371C>A
n.8002C>A
 gnomAD v4
19g.38502963C=CA2335054859RYR1c.7919C= (p.Pro2640=)
c.7916C= (p.Pro2639=)
c.1371C=
n.8002C=
19g.38502963C>GCA405674271RYR1c.7919C>G (p.Pro2640Arg)
c.7916C>G (p.Pro2639Arg)
c.1371C>G
n.8002C>G
19g.38502963C>TCA308113598RYR1c.7919C>T (p.Pro2640Leu)
c.7916C>T (p.Pro2639Leu)
c.1371C>T
n.8002C>T
 dbSNP gnomAD v4
19g.38502964A>CCA507354021RYR1c.7920A>C (p.Pro2640=)
c.7917A>C (p.Pro2639=)
c.1372A>C
n.8003A>C
19g.38502964A>GCA507354022RYR1c.7920A>G (p.Pro2640=)
c.7917A>G (p.Pro2639=)
c.1372A>G
n.8003A>G
 gnomAD v4
19g.38502964A>TCA507354023RYR1c.7920A>T (p.Pro2640=)
c.7917A>T (p.Pro2639=)
c.1372A>T
n.8003A>T
19g.38502965C>ACA405674275RYR1c.7921C>A (p.Leu2641Ile)
c.7918C>A (p.Leu2640Ile)
c.1373C>A
n.8004C>A
19g.38502965C=CA2335054860RYR1c.7921C= (p.Leu2641=)
c.7918C= (p.Leu2640=)
c.1373C=
n.8004C=
19g.38502965C>GCA405674281RYR1c.7921C>G (p.Leu2641Val)
c.7918C>G (p.Leu2640Val)
c.1373C>G
n.8004C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502965C>TCA308113606RYR1c.7921C>T (p.Leu2641Phe)
c.7918C>T (p.Leu2640Phe)
c.1373C>T
n.8004C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502966T>ACA405674287RYR1c.7922T>A (p.Leu2641His)
c.7919T>A (p.Leu2640His)
c.1374T>A
n.8005T>A
19g.38502966T>CCA405674288RYR1c.7922T>C (p.Leu2641Pro)
c.7919T>C (p.Leu2640Pro)
c.1374T>C
n.8005T>C
19g.38502966T>GCA405674290RYR1c.7922T>G (p.Leu2641Arg)
c.7919T>G (p.Leu2640Arg)
c.1374T>G
n.8005T>G
19g.38502967C>ACA507354025RYR1c.7923C>A (p.Leu2641=)
c.7920C>A (p.Leu2640=)
c.1375C>A
n.8006C>A
 gnomAD v4
19g.38502967C=CA2335054861RYR1c.7923C= (p.Leu2641=)
c.7920C= (p.Leu2640=)
c.1375C=
n.8006C=
19g.38502967C>GCA024874RYR1c.7923C>G (p.Leu2641=)
c.7920C>G (p.Leu2640=)
c.1375C>G
n.8006C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502967C>TCA507354026RYR1c.7923C>T (p.Leu2641=)
c.7920C>T (p.Leu2640=)
c.1375C>T
n.8006C>T
 gnomAD v4
19g.38502968A>CCA405674300RYR1c.7924A>C (p.Lys2642Gln)
c.7921A>C (p.Lys2641Gln)
c.1376A>C
n.8007A>C
 gnomAD v4
19g.38502968A>GCA405674294RYR1c.7924A>G (p.Lys2642Glu)
c.7921A>G (p.Lys2641Glu)
c.1376A>G
n.8007A>G
 gnomAD v4
19g.38502968A>TCA405674296RYR1c.7924A>T (p.Lys2642Ter)
c.7921A>T (p.Lys2641Ter)
c.1376A>T
n.8007A>T
19g.38502969A=CA2335054862RYR1c.7925A= (p.Lys2642=)
c.7922A= (p.Lys2641=)
c.1377A=
n.8008A=
19g.38502969A>CCA405674302RYR1c.7925A>C (p.Lys2642Thr)
c.7922A>C (p.Lys2641Thr)
c.1377A>C
n.8008A>C
19g.38502969A>GCA071033RYR1c.7925A>G (p.Lys2642Arg)
c.7922A>G (p.Lys2641Arg)
c.1377A>G
n.8008A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502969A>TCA405674309RYR1c.7925A>T (p.Lys2642Met)
c.7922A>T (p.Lys2641Met)
c.1377A>T
n.8008A>T
19g.38502970G>ACA507354031RYR1c.7926G>A (p.Lys2642=)
c.7923G>A (p.Lys2641=)
c.1378G>A
n.8009G>A
 gnomAD v4
19g.38502970G>CCA405674318RYR1c.7926G>C (p.Lys2642Asn)
c.7923G>C (p.Lys2641Asn)
c.1378G>C
n.8009G>C
19g.38502970G>TCA405674320RYR1c.7926G>T (p.Lys2642Asn)
c.7923G>T (p.Lys2641Asn)
c.1378G>T
n.8009G>T
 gnomAD v4
19g.38502971G>ACA405674323RYR1c.7926+1G>A (n.7926+1G>A)
c.7923+1G>A (n.7923+1G>A)
c.1378+1G>A
n.8009+1G>A
 gnomAD v4
19g.38502971G>CCA308113615RYR1c.7926+1G>C (n.7926+1G>C)
c.7923+1G>C (n.7923+1G>C)
c.1378+1G>C
n.8009+1G>C
 dbSNP
19g.38502971G=CA2335054863RYR1c.7926+1G= (n.7926+1G=)
c.7923+1G= (n.7923+1G=)
c.1378+1G=
n.8009+1G=
19g.38502971G>TCA405674332RYR1c.7926+1G>T (n.7926+1G>T)
c.7923+1G>T (n.7923+1G>T)
c.1378+1G>T
n.8009+1G>T
 gnomAD v4
19g.38502972T>ACA405674334RYR1c.7926+2T>A (n.7926+2T>A)
c.7923+2T>A (n.7923+2T>A)
c.1378+2T>A
n.8009+2T>A
19g.38502972T>CCA405674336RYR1c.7926+2T>C (n.7926+2T>C)
c.7923+2T>C (n.7923+2T>C)
c.1378+2T>C
n.8009+2T>C
 ClinVar dbSNP
19g.38502972T>GCA405674338RYR1c.7926+2T>G (n.7926+2T>G)
c.7923+2T>G (n.7923+2T>G)
c.1378+2T>G
n.8009+2T>G
19g.38502972T=CA2335054864RYR1c.7926+2T= (n.7926+2T=)
c.7923+2T= (n.7923+2T=)
c.1378+2T=
n.8009+2T=
19g.38502973G>ACA2584901130RYR1c.7926+3G>A (n.7926+3G>A)
c.7923+3G>A (n.7923+3G>A)
c.1378+3G>A
n.8009+3G>A
 gnomAD v4
19g.38502973G>CCA633066178RYR1c.7926+3G>C (n.7926+3G>C)
c.7923+3G>C (n.7923+3G>C)
c.1378+3G>C
n.8009+3G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502973G=CA2335054865RYR1c.7926+3G= (n.7926+3G=)
c.7923+3G= (n.7923+3G=)
c.1378+3G=
n.8009+3G=
19g.38502973G>TCA2584901131RYR1c.7926+3G>T (n.7926+3G>T)
c.7923+3G>T (n.7923+3G>T)
c.1378+3G>T
n.8009+3G>T
 gnomAD v4
19g.38502974A>GCA2584901132RYR1c.7926+4A>G (n.7926+4A>G)
c.7923+4A>G (n.7923+4A>G)
c.1378+4A>G
n.8009+4A>G
 gnomAD v4
19g.38502975G>ACA658799202RYR1c.7926+5G>A (n.7926+5G>A)
c.7923+5G>A (n.7923+5G>A)
c.1378+5G>A
n.8009+5G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502975G=CA2335054866RYR1c.7926+5G= (n.7926+5G=)
c.7923+5G= (n.7923+5G=)
c.1378+5G=
n.8009+5G=
19g.38502975G>TCA2584901134RYR1c.7926+5G>T (n.7926+5G>T)
c.7923+5G>T (n.7923+5G>T)
c.1378+5G>T
n.8009+5G>T
 gnomAD v4
19g.38502977delCA2584901133RYR1c.7926+7del (n.7926+7del)
c.7923+7del (n.7923+7del)
c.1378+7del
n.8009+7del
 gnomAD v4
19g.38502976G>ACA071068RYR1c.7926+6G>A (n.7926+6G>A)
c.7923+6G>A (n.7923+6G>A)
c.1378+6G>A
n.8009+6G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502976G=CA2335054867RYR1c.7926+6G= (n.7926+6G=)
c.7923+6G= (n.7923+6G=)
c.1378+6G=
n.8009+6G=
19g.38502976G>TCA2584901135RYR1c.7926+6G>T (n.7926+6G>T)
c.7923+6G>T (n.7923+6G>T)
c.1378+6G>T
n.8009+6G>T
 gnomAD v4
19g.38502977G>ACA2584901136RYR1c.7926+7G>A (n.7926+7G>A)
c.7923+7G>A (n.7923+7G>A)
c.1378+7G>A
n.8009+7G>A
 gnomAD v4
19g.38502977G>TCA2584901137RYR1c.7926+7G>T (n.7926+7G>T)
c.7923+7G>T (n.7923+7G>T)
c.1378+7G>T
n.8009+7G>T
 gnomAD v4
19g.38502979A>GCA2584901138RYR1c.7926+9A>G (n.7926+9A>G)
c.7923+9A>G (n.7923+9A>G)
c.1378+9A>G
n.8009+9A>G
 gnomAD v4
19g.38502980A=CA2335054868RYR1c.7926+10A= (n.7926+10A=)
c.7923+10A= (n.7923+10A=)
c.1378+10A=
n.8009+10A=
19g.38502980A>GCA071038RYR1c.7926+10A>G (n.7926+10A>G)
c.7923+10A>G (n.7923+10A>G)
c.1378+10A>G
n.8009+10A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502981G>ACA308113628RYR1c.7926+11G>A (n.7926+11G>A)
c.7923+11G>A (n.7923+11G>A)
c.1378+11G>A
n.8009+11G>A
 ClinVar dbSNP gnomAD v4
19g.38502981G>CCA308113636RYR1c.7926+11G>C (n.7926+11G>C)
c.7923+11G>C (n.7923+11G>C)
c.1378+11G>C
n.8009+11G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502981G=CA2335054869RYR1c.7926+11G= (n.7926+11G=)
c.7923+11G= (n.7923+11G=)
c.1378+11G=
n.8009+11G=
19g.38502981G>TCA2584901139RYR1c.7926+11G>T (n.7926+11G>T)
c.7923+11G>T (n.7923+11G>T)
c.1378+11G>T
n.8009+11G>T
 gnomAD v4
19g.38502982C>ACA2576771140RYR1c.7926+12C>A (n.7926+12C>A)
c.7923+12C>A (n.7923+12C>A)
c.1378+12C>A
n.8009+12C>A
 gnomAD v4
19g.38502982C=CA2335054870RYR1c.7926+12C= (n.7926+12C=)
c.7923+12C= (n.7923+12C=)
c.1378+12C=
n.8009+12C=
19g.38502982C>GCA2335054871RYR1c.7926+12C>G (n.7926+12C>G)
c.7923+12C>G (n.7923+12C>G)
c.1378+12C>G
n.8009+12C>G
 ClinVar dbSNP
19g.38502982C>TCA071041RYR1c.7926+12C>T (n.7926+12C>T)
c.7923+12C>T (n.7923+12C>T)
c.1378+12C>T
n.8009+12C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502983G>ACA995719365RYR1c.7926+13G>A (n.7926+13G>A)
c.7923+13G>A (n.7923+13G>A)
c.1378+13G>A
n.8009+13G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502983G>CCA882054728RYR1c.7926+13G>C (n.7926+13G>C)
c.7923+13G>C (n.7923+13G>C)
c.1378+13G>C
n.8009+13G>C
 dbSNP
19g.38502983G=CA2335054872RYR1c.7926+13G= (n.7926+13G=)
c.7923+13G= (n.7923+13G=)
c.1378+13G=
n.8009+13G=
19g.38502983G>TCA2565677246RYR1c.7926+13G>T (n.7926+13G>T)
c.7923+13G>T (n.7923+13G>T)
c.1378+13G>T
n.8009+13G>T
 gnomAD v4

Number of alleles fetched