Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502879G>ACA082842RYR1c.7836-1G>A (n.7836-1G>A)
c.7833-1G>A (n.7833-1G>A)
c.1288-1G>A
n.7919-1G>A
 ClinVar dbSNP gnomAD v4
19g.38502879G>CCA405673477RYR1c.7836-1G>C (n.7836-1G>C)
c.7833-1G>C (n.7833-1G>C)
c.1288-1G>C
n.7919-1G>C
19g.38502879G=CA2335054794RYR1c.7836-1G= (n.7836-1G=)
c.7833-1G= (n.7833-1G=)
c.1288-1G=
n.7919-1G=
19g.38502879G>TCA405673480RYR1c.7836-1G>T (n.7836-1G>T)
c.7833-1G>T (n.7833-1G>T)
c.1288-1G>T
n.7919-1G>T
 gnomAD v4 COSMIC
19g.38502880G>ACA024866RYR1c.7836G>A (p.Arg2612=)
c.7833G>A (p.Arg2611=)
c.1288G>A
n.7919G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502880G>CCA405673484RYR1c.7836G>C (p.Arg2612Ser)
c.7833G>C (p.Arg2611Ser)
c.1288G>C
n.7919G>C
19g.38502880G=CA2335054795RYR1c.7836G= (p.Arg2612=)
c.7833G= (p.Arg2611=)
c.1288G=
n.7919G=
19g.38502880G>TCA070796RYR1c.7836G>T (p.Arg2612Ser)
c.7833G>T (p.Arg2611Ser)
c.1288G>T
n.7919G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502881T>ACA405673497RYR1c.7837T>A (p.Tyr2613Asn)
c.7834T>A (p.Tyr2612Asn)
c.1289T>A
n.7920T>A
 gnomAD v4
19g.38502881T>CCA405673493RYR1c.7837T>C (p.Tyr2613His)
c.7834T>C (p.Tyr2612His)
c.1289T>C
n.7920T>C
 gnomAD v4
19g.38502881T>GCA405673491RYR1c.7837T>G (p.Tyr2613Asp)
c.7834T>G (p.Tyr2612Asp)
c.1289T>G
n.7920T>G
 dbSNP
19g.38502882A=CA2335054796RYR1c.7838A= (p.Tyr2613=)
c.7835A= (p.Tyr2612=)
c.1290A=
n.7921A=
19g.38502882A>CCA070800RYR1c.7838A>C (p.Tyr2613Ser)
c.7835A>C (p.Tyr2612Ser)
c.1290A>C
n.7921A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502882A>GCA405673509RYR1c.7838A>G (p.Tyr2613Cys)
c.7835A>G (p.Tyr2612Cys)
c.1290A>G
n.7921A>G
 dbSNP COSMIC
19g.38502882A>TCA405673511RYR1c.7838A>T (p.Tyr2613Phe)
c.7835A>T (p.Tyr2612Phe)
c.1290A>T
n.7921A>T
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

Number of alleles fetched