Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502710C>ACA405672963RYR1c.7818C>A (p.Cys2606Ter)
c.7815C>A (p.Cys2605Ter)
c.1270C>A
n.7901C>A
19g.38502710C=CA2335054438RYR1c.7818C= (p.Cys2606=)
c.7815C= (p.Cys2605=)
c.1270C=
n.7901C=
19g.38502710C>GCA082666RYR1c.7818C>G (p.Cys2606Trp)
c.7815C>G (p.Cys2605Trp)
c.1270C>G
n.7901C>G
dbSNP gnomAD v2 gnomAD v4
19g.38502710C>TCA082669RYR1c.7818C>T (p.Cys2606=)
c.7815C>T (p.Cys2605=)
c.1270C>T
n.7901C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502711C>ACA405672967RYR1c.7819C>A (p.Leu2607Ile)
c.7816C>A (p.Leu2606Ile)
c.1271C>A
n.7902C>A
19g.38502711C=CA2335054439RYR1c.7819C= (p.Leu2607=)
c.7816C= (p.Leu2606=)
c.1271C=
n.7902C=
19g.38502711C>GCA405672970RYR1c.7819C>G (p.Leu2607Val)
c.7816C>G (p.Leu2606Val)
c.1271C>G
n.7902C>G
gnomAD v4
19g.38502711C>TCA070343RYR1c.7819C>T (p.Leu2607Phe)
c.7816C>T (p.Leu2606Phe)
c.1271C>T
n.7902C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502712T>ACA405672973RYR1c.7820T>A (p.Leu2607His)
c.7817T>A (p.Leu2606His)
c.1272T>A
n.7903T>A
19g.38502712T>CCA070351RYR1c.7820T>C (p.Leu2607Pro)
c.7817T>C (p.Leu2606Pro)
c.1272T>C
n.7903T>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502712T>GCA405672979RYR1c.7820T>G (p.Leu2607Arg)
c.7817T>G (p.Leu2606Arg)
c.1272T>G
n.7903T>G
19g.38502712T=CA2335054440RYR1c.7820T= (p.Leu2607=)
c.7817T= (p.Leu2606=)
c.1272T=
n.7903T=
19g.38502713C>ACA507353936RYR1c.7821C>A (p.Leu2607=)
c.7818C>A (p.Leu2606=)
c.1273C>A
n.7904C>A
19g.38502713C=CA2335054441RYR1c.7821C= (p.Leu2607=)
c.7818C= (p.Leu2606=)
c.1273C=
n.7904C=
19g.38502713C>GCA507353937RYR1c.7821C>G (p.Leu2607=)
c.7818C>G (p.Leu2606=)
c.1273C>G
n.7904C>G
gnomAD v4
19g.38502713C>TCA507353938RYR1c.7821C>T (p.Leu2607=)
c.7818C>T (p.Leu2606=)
c.1273C>T
n.7904C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502714A=CA2335054442RYR1c.7822A= (p.Met2608=)
c.7819A= (p.Met2607=)
c.1274A=
n.7905A=
19g.38502714A>CCA405672981RYR1c.7822A>C (p.Met2608Leu)
c.7819A>C (p.Met2607Leu)
c.1274A>C
n.7905A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502714A>GCA405672983RYR1c.7822A>G (p.Met2608Val)
c.7819A>G (p.Met2607Val)
c.1274A>G
n.7905A>G
dbSNP gnomAD v4
19g.38502714A>TCA405672985RYR1c.7822A>T (p.Met2608Leu)
c.7819A>T (p.Met2607Leu)
c.1274A>T
n.7905A>T
19g.38502714_38502727delCA2584900602RYR1c.7822_7835del (p.Met2608ValfsTer?)
c.7819_7832del (p.Met2607ValfsTer?)
c.1274_1287del
n.7905_7918del
gnomAD v4
19g.38502715delCA2584900603RYR1c.7823del (p.Met2608SerfsTer?)
c.7820del (p.Met2607SerfsTer?)
c.1275del
n.7906del
gnomAD v4
19g.38502715T>ACA405672998RYR1c.7823T>A (p.Met2608Lys)
c.7820T>A (p.Met2607Lys)
c.1275T>A
n.7906T>A
19g.38502715T>CCA082674RYR1c.7823T>C (p.Met2608Thr)
c.7820T>C (p.Met2607Thr)
c.1275T>C
n.7906T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502715T>GCA405673006RYR1c.7823T>G (p.Met2608Arg)
c.7820T>G (p.Met2607Arg)
c.1275T>G
n.7906T>G
ClinVar gnomAD v4
19g.38502715T=CA2335054443RYR1c.7823T= (p.Met2608=)
c.7820T= (p.Met2607=)
c.1275T=
n.7906T=
19g.38502716G>ACA405673028RYR1c.7824G>A (p.Met2608Ile)
c.7821G>A (p.Met2607Ile)
c.1276G>A
n.7907G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502716G>CCA405673011RYR1c.7824G>C (p.Met2608Ile)
c.7821G>C (p.Met2607Ile)
c.1276G>C
n.7907G>C
dbSNP gnomAD v4
19g.38502716G=CA2335054444RYR1c.7824G= (p.Met2608=)
c.7821G= (p.Met2607=)
c.1276G=
n.7907G=
19g.38502716G>TCA405673009RYR1c.7824G>T (p.Met2608Ile)
c.7821G>T (p.Met2607Ile)
c.1276G>T
n.7907G>T
gnomAD v4
19g.38502717T>ACA405673029RYR1c.7825T>A (p.Ser2609Thr)
c.7822T>A (p.Ser2608Thr)
c.1277T>A
n.7908T>A
19g.38502717T>CCA405673030RYR1c.7825T>C (p.Ser2609Pro)
c.7822T>C (p.Ser2608Pro)
c.1277T>C
n.7908T>C
19g.38502717T>GCA405673031RYR1c.7825T>G (p.Ser2609Ala)
c.7822T>G (p.Ser2608Ala)
c.1277T>G
n.7908T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502717T=CA2335054445RYR1c.7825T= (p.Ser2609=)
c.7822T= (p.Ser2608=)
c.1277T=
n.7908T=
19g.38502718C>ACA405673033RYR1c.7826C>A (p.Ser2609Ter)
c.7823C>A (p.Ser2608Ter)
c.1278C>A
n.7909C>A
gnomAD v3 gnomAD v4
19g.38502718C=CA2335054446RYR1c.7826C= (p.Ser2609=)
c.7823C= (p.Ser2608=)
c.1278C=
n.7909C=
19g.38502718C>GCA405673034RYR1c.7826C>G (p.Ser2609Trp)
c.7823C>G (p.Ser2608Trp)
c.1278C>G
n.7909C>G
ClinVar dbSNP
19g.38502718C>TCA070356RYR1c.7826C>T (p.Ser2609Leu)
c.7823C>T (p.Ser2608Leu)
c.1278C>T
n.7909C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502719G>ACA308112322RYR1c.7827G>A (p.Ser2609=)
c.7824G>A (p.Ser2608=)
c.1279G>A
n.7910G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502719G>CCA507353939RYR1c.7827G>C (p.Ser2609=)
c.7824G>C (p.Ser2608=)
c.1279G>C
n.7910G>C
19g.38502719G=CA2335054447RYR1c.7827G= (p.Ser2609=)
c.7824G= (p.Ser2608=)
c.1279G=
n.7910G=
19g.38502719G>TCA507353940RYR1c.7827G>T (p.Ser2609=)
c.7824G>T (p.Ser2608=)
c.1279G>T
n.7910G>T
gnomAD v4
19g.38502720C>ACA405673041RYR1c.7828C>A (p.Leu2610Ile)
c.7825C>A (p.Leu2609Ile)
c.1280C>A
n.7911C>A
19g.38502720C=CA2335054448RYR1c.7828C= (p.Leu2610=)
c.7825C= (p.Leu2609=)
c.1280C=
n.7911C=
19g.38502720C>GCA405673046RYR1c.7828C>G (p.Leu2610Val)
c.7825C>G (p.Leu2609Val)
c.1280C>G
n.7911C>G
gnomAD v4
19g.38502720C>TCA070357RYR1c.7828C>T (p.Leu2610Phe)
c.7825C>T (p.Leu2609Phe)
c.1280C>T
n.7911C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502721T>ACA405673066RYR1c.7829T>A (p.Leu2610His)
c.7826T>A (p.Leu2609His)
c.1281T>A
n.7912T>A
19g.38502721T>CCA405673069RYR1c.7829T>C (p.Leu2610Pro)
c.7826T>C (p.Leu2609Pro)
c.1281T>C
n.7912T>C
19g.38502721T>GCA405673073RYR1c.7829T>G (p.Leu2610Arg)
c.7826T>G (p.Leu2609Arg)
c.1281T>G
n.7912T>G
gnomAD v4
19g.38502722C>ACA507353941RYR1c.7830C>A (p.Leu2610=)
c.7827C>A (p.Leu2609=)
c.1282C>A
n.7913C>A
19g.38502722C=CA2335054449RYR1c.7830C= (p.Leu2610=)
c.7827C= (p.Leu2609=)
c.1282C=
n.7913C=
19g.38502722C>GCA507353942RYR1c.7830C>G (p.Leu2610=)
c.7827C>G (p.Leu2609=)
c.1282C>G
n.7913C>G
ClinVar dbSNP
19g.38502722C>TCA070361RYR1c.7830C>T (p.Leu2610=)
c.7827C>T (p.Leu2609=)
c.1282C>T
n.7913C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502723T>ACA405673085RYR1c.7831T>A (p.Cys2611Ser)
c.7828T>A (p.Cys2610Ser)
c.1283T>A
n.7914T>A
19g.38502723T>CCA405673079RYR1c.7831T>C (p.Cys2611Arg)
c.7828T>C (p.Cys2610Arg)
c.1283T>C
n.7914T>C
19g.38502723T>GCA405673081RYR1c.7831T>G (p.Cys2611Gly)
c.7828T>G (p.Cys2610Gly)
c.1283T>G
n.7914T>G
19g.38502724G>ACA070367RYR1c.7832G>A (p.Cys2611Tyr)
c.7829G>A (p.Cys2610Tyr)
c.1284G>A
n.7915G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502724G>CCA405673106RYR1c.7832G>C (p.Cys2611Ser)
c.7829G>C (p.Cys2610Ser)
c.1284G>C
n.7915G>C
gnomAD v4
19g.38502724G=CA2335054450RYR1c.7832G= (p.Cys2611=)
c.7829G= (p.Cys2610=)
c.1284G=
n.7915G=
19g.38502724G>TCA405673108RYR1c.7832G>T (p.Cys2611Phe)
c.7829G>T (p.Cys2610Phe)
c.1284G>T
n.7915G>T
gnomAD v4
19g.38502725C>ACA405673111RYR1c.7833C>A (p.Cys2611Ter)
c.7830C>A (p.Cys2610Ter)
c.1285C>A
n.7916C>A
19g.38502725C=CA2335054451RYR1c.7833C= (p.Cys2611=)
c.7830C= (p.Cys2610=)
c.1285C=
n.7916C=
19g.38502725C>GCA405673114RYR1c.7833C>G (p.Cys2611Trp)
c.7830C>G (p.Cys2610Trp)
c.1285C>G
n.7916C>G
19g.38502725C>TCA082680RYR1c.7833C>T (p.Cys2611=)
c.7830C>T (p.Cys2610=)
c.1285C>T
n.7916C>T
dbSNP gnomAD v2 gnomAD v4
19g.38502726A=CA2335054453RYR1c.7834A= (p.Arg2612=)
c.7831A= (p.Arg2611=)
c.1286A=
n.7917A=
19g.38502726A>CCA507353950RYR1c.7834A>C (p.Arg2612=)
c.7831A>C (p.Arg2611=)
c.1286A>C
n.7917A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502726A>GCA405673117RYR1c.7834A>G (p.Arg2612Gly)
c.7831A>G (p.Arg2611Gly)
c.1286A>G
n.7917A>G
19g.38502726A>TCA405673120RYR1c.7834A>T (p.Arg2612Trp)
c.7831A>T (p.Arg2611Trp)
c.1286A>T
n.7917A>T
19g.38502726_38502747delCA2576771078RYR1c.7834_7835+20del
c.7831_7832+20del
c.1286_1287+20del
n.7917_7918+20del
gnomAD v4
19g.38502726_38502748delinsAGGTGGAGCGGGGCAGGCTTCAGCA2335054452RYR1c.7834_7835+21delinsAGGTGGAGCGGGGCAGGCTTCAG
c.7831_7832+21delinsAGGTGGAGCGGGGCAGGCTTCAG
c.1286_1287+21delinsAGGTGGAGCGGGGCAGGCTTCAG
n.7917_7918+21delinsAGGTGGAGCGGGGCAGGCTTCAG
19g.38502727G>ACA070560RYR1c.7835G>A (p.Arg2612Lys)
c.7832G>A (p.Arg2611Lys)
c.1287G>A
n.7918G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502727G>CCA405673125RYR1c.7835G>C (p.Arg2612Thr)
c.7832G>C (p.Arg2611Thr)
c.1287G>C
n.7918G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502727G=CA2335054454RYR1c.7835G= (p.Arg2612=)
c.7832G= (p.Arg2611=)
c.1287G=
n.7918G=
19g.38502727G>TCA405673133RYR1c.7835G>T (p.Arg2612Met)
c.7832G>T (p.Arg2611Met)
c.1287G>T
n.7918G>T
19g.38502731_38502732insGGCGGGGCAGGCTTCAGGGTGGCA1139666423RYR1c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
c.7832+4_7832+5insGGCGGGGCAGGCTTCAGGGTGG
c.1287+4_1287+5insGGCGGGGCAGGCTTCAGGGTGG
n.7918+4_7918+5insGGCGGGGCAGGCTTCAGGGTGG
ClinVar dbSNP
19g.38502732_38502753dupCA2523901509RYR1c.7835+5_7835+26dup
c.7832+5_7832+26dup
c.1287+5_1287+26dup
n.7918+5_7918+26dup
ClinVar dbSNP gnomAD v4
19g.38502732_38502753delCA9415818RYR1c.7835+5_7835+26del
c.7832+5_7832+26del
c.1287+5_1287+26del
n.7918+5_7918+26del
dbSNP ExAC
19g.38502728G>ACA16607795RYR1c.7835+1G>A (n.7835+1G>A)
c.7832+1G>A (n.7832+1G>A)
c.1287+1G>A
n.7918+1G>A
ClinVar dbSNP gnomAD v4
19g.38502728G>CCA405673138RYR1c.7835+1G>C (n.7835+1G>C)
c.7832+1G>C (n.7832+1G>C)
c.1287+1G>C
n.7918+1G>C
gnomAD v4
19g.38502728G=CA2335054455RYR1c.7835+1G= (n.7835+1G=)
c.7832+1G= (n.7832+1G=)
c.1287+1G=
n.7918+1G=
19g.38502728G>TCA405673142RYR1c.7835+1G>T (n.7835+1G>T)
c.7832+1G>T (n.7832+1G>T)
c.1287+1G>T
n.7918+1G>T
dbSNP gnomAD v4
19g.38502729T>ACA405673147RYR1c.7835+2T>A (n.7835+2T>A)
c.7832+2T>A (n.7832+2T>A)
c.1287+2T>A
n.7918+2T>A
gnomAD v4
19g.38502729T>CCA405673150RYR1c.7835+2T>C (n.7835+2T>C)
c.7832+2T>C (n.7832+2T>C)
c.1287+2T>C
n.7918+2T>C
dbSNP
19g.38502729T>GCA405673152RYR1c.7835+2T>G (n.7835+2T>G)
c.7832+2T>G (n.7832+2T>G)
c.1287+2T>G
n.7918+2T>G
ClinVar dbSNP gnomAD v4
19g.38502729T=CA2335054456RYR1c.7835+2T= (n.7835+2T=)
c.7832+2T= (n.7832+2T=)
c.1287+2T=
n.7918+2T=
19g.38502729_38502734delinsTGGAGCCA2335054458RYR1c.7835+2_7835+7delinsTGGAGC (n.7835+2_7835+7delinsTGGAGC)
c.7832+2_7832+7delinsTGGAGC (n.7832+2_7832+7delinsTGGAGC)
c.1287+2_1287+7delinsTGGAGC
n.7918+2_7918+7delinsTGGAGC
19g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCACA2335054457RYR1c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.1287+2_1287+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
n.7918+2_7918+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
19g.38502730G>ACA995717297RYR1c.7835+3G>A (n.7835+3G>A)
c.7832+3G>A (n.7832+3G>A)
c.1287+3G>A
n.7918+3G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502730G=CA2335054460RYR1c.7835+3G= (n.7835+3G=)
c.7832+3G= (n.7832+3G=)
c.1287+3G=
n.7918+3G=
19g.38502730G>TCA308112361RYR1c.7835+3G>T (n.7835+3G>T)
c.7832+3G>T (n.7832+3G>T)
c.1287+3G>T
n.7918+3G>T
dbSNP gnomAD v4
19g.38502731_38502732insGGCGGCA070443RYR1c.7835+4_7835+5insGGCGG (n.7835+4_7835+5insGGCGG)
c.7832+4_7832+5insGGCGG (n.7832+4_7832+5insGGCGG)
c.1287+4_1287+5insGGCGG
n.7918+4_7918+5insGGCGG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502731dupCA2335054461RYR1c.7835+4dup (n.7835+4dup)
c.7832+4dup (n.7832+4dup)
c.1287+4dup
n.7918+4dup
dbSNP gnomAD v4
19g.38502732_38502736delCA633066203RYR1c.7835+5_7835+9del (n.7835+5_7835+9del)
c.7832+5_7832+9del (n.7832+5_7832+9del)
c.1287+5_1287+9del
n.7918+5_7918+9del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502730_38502746dupCA920105547RYR1c.7835+3_7835+19dup (n.7835+3_7835+19dup)
c.7832+3_7832+19dup (n.7832+3_7832+19dup)
c.1287+3_1287+19dup
n.7918+3_7918+19dup
ClinVar dbSNP gnomAD v4
19g.38502730_38502747delinsGGAGCGGGGCAGGCTTCACA2335054459RYR1c.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA (n.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA)
c.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA (n.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA)
c.1287+3_1287+20delinsGGAGCGGGGCAGGCTTCA
n.7918+3_7918+20delinsGGAGCGGGGCAGGCTTCA
19g.38502732_38502771delCA633066204RYR1c.7835+5_7835+44del (n.7835+5_7835+44del)
c.7832+5_7832+44del (n.7832+5_7832+44del)
c.1287+5_1287+44del
n.7918+5_7918+44del
dbSNP gnomAD v2 gnomAD v4
19g.38502731G>ACA9415821RYR1c.7835+4G>A (n.7835+4G>A)
c.7832+4G>A (n.7832+4G>A)
c.1287+4G>A
n.7918+4G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502731G=CA2335054464RYR1c.7835+4G= (n.7835+4G=)
c.7832+4G= (n.7832+4G=)
c.1287+4G=
n.7918+4G=
19g.38502731G>TCA2584900605RYR1c.7835+4G>T (n.7835+4G>T)
c.7832+4G>T (n.7832+4G>T)
c.1287+4G>T
n.7918+4G>T
gnomAD v4
19g.38502731_38502732delinsAGCA2499225470RYR1c.7835+4_7835+5delinsAG (n.7835+4_7835+5delinsAG)
c.7832+4_7832+5delinsAG (n.7832+4_7832+5delinsAG)
c.1287+4_1287+5delinsAG
n.7918+4_7918+5delinsAG
ClinVar dbSNP
19g.38502731_38502734delinsGAGCCA2335054463RYR1c.7835+4_7835+7delinsGAGC (n.7835+4_7835+7delinsGAGC)
c.7832+4_7832+7delinsGAGC (n.7832+4_7832+7delinsGAGC)
c.1287+4_1287+7delinsGAGC
n.7918+4_7918+7delinsGAGC
19g.38502732_38502748dupCA2584900604RYR1c.7835+5_7835+21dup (n.7835+5_7835+21dup)
c.7832+5_7832+21dup (n.7832+5_7832+21dup)
c.1287+5_1287+21dup
n.7918+5_7918+21dup
ClinVar gnomAD v4
19g.38502732_38502748delCA2335054462RYR1c.7835+5_7835+21del (n.7835+5_7835+21del)
c.7832+5_7832+21del (n.7832+5_7832+21del)
c.1287+5_1287+21del
n.7918+5_7918+21del
dbSNP
19g.38502731_38502732insGGCGGGGCCA9415820RYR1c.7835+4_7835+5insGGCGGGGC (n.7835+4_7835+5insGGCGGGGC)
c.7832+4_7832+5insGGCGGGGC (n.7832+4_7832+5insGGCGGGGC)
c.1287+4_1287+5insGGCGGGGC
n.7918+4_7918+5insGGCGGGGC
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502732A=CA2335054467RYR1c.7835+5A= (n.7835+5A=)
c.7832+5A= (n.7832+5A=)
c.1287+5A=
n.7918+5A=
19g.38502732A>CCA2581382505RYR1c.7835+5A>C (n.7835+5A>C)
c.7832+5A>C (n.7832+5A>C)
c.1287+5A>C
n.7918+5A>C
19g.38502732A>GCA024854RYR1c.7835+5A>G (n.7835+5A>G)
c.7832+5A>G (n.7832+5A>G)
c.1287+5A>G
n.7918+5A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502732A>TCA2581382506RYR1c.7835+5A>T (n.7835+5A>T)
c.7832+5A>T (n.7832+5A>T)
c.1287+5A>T
n.7918+5A>T
gnomAD v4
19g.38502732_38502734delCA9415819RYR1c.7835+5_7835+7del (n.7835+5_7835+7del)
c.7832+5_7832+7del (n.7832+5_7832+7del)
c.1287+5_1287+7del
n.7918+5_7918+7del
dbSNP ExAC
19g.38502732_38502763delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCACA2335054466RYR1c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.1287+5_1287+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
n.7918+5_7918+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
19g.38502732_38502766delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGCA2335054465RYR1c.7835+5_7835+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG (n.7835+5_7835+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG)
c.7832+5_7832+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG (n.7832+5_7832+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG)
c.1287+5_1287+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG
n.7918+5_7918+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG
19g.38502733G>ACA2584900608RYR1c.7835+6G>A (n.7835+6G>A)
c.7832+6G>A (n.7832+6G>A)
c.1287+6G>A
n.7918+6G>A
gnomAD v4
19g.38502733G>CCA2584900609RYR1c.7835+6G>C (n.7835+6G>C)
c.7832+6G>C (n.7832+6G>C)
c.1287+6G>C
n.7918+6G>C
gnomAD v4
19g.38502733G>TCA2584900610RYR1c.7835+6G>T (n.7835+6G>T)
c.7832+6G>T (n.7832+6G>T)
c.1287+6G>T
n.7918+6G>T
gnomAD v4
19g.38502733_38502734insGCTTCGGGGCA2584900607RYR1c.7835+6_7835+7insGCTTCGGGG (n.7835+6_7835+7insGCTTCGGGG)
c.7832+6_7832+7insGCTTCGGGG (n.7832+6_7832+7insGCTTCGGGG)
c.1287+6_1287+7insGCTTCGGGG
n.7918+6_7918+7insGCTTCGGGG
gnomAD v4
19g.38502733_38502734insGCTTTGGGGCA2584900606RYR1c.7835+6_7835+7insGCTTTGGGG (n.7835+6_7835+7insGCTTTGGGG)
c.7832+6_7832+7insGCTTTGGGG (n.7832+6_7832+7insGCTTTGGGG)
c.1287+6_1287+7insGCTTTGGGG
n.7918+6_7918+7insGCTTTGGGG
gnomAD v4
19g.38502733_38502734insGCTTCAGGGTGGGGCA9415822RYR1c.7835+6_7835+7insGCTTCAGGGTGGGG (n.7835+6_7835+7insGCTTCAGGGTGGGG)
c.7832+6_7832+7insGCTTCAGGGTGGGG (n.7832+6_7832+7insGCTTCAGGGTGGGG)
c.1287+6_1287+7insGCTTCAGGGTGGGG
n.7918+6_7918+7insGCTTCAGGGTGGGG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502733_38502763delinsAGCCA658658809RYR1c.7835+6_7835+36delinsAGC (n.7835+6_7835+36delinsAGC)
c.7832+6_7832+36delinsAGC (n.7832+6_7832+36delinsAGC)
c.1287+6_1287+36delinsAGC
n.7918+6_7918+36delinsAGC
ClinVar dbSNP
19g.38502735_38502768delCA882053907RYR1c.7835+8_7835+41del (n.7835+8_7835+41del)
c.7832+8_7832+41del (n.7832+8_7832+41del)
c.1287+8_1287+41del
n.7918+8_7918+41del
dbSNP
19g.38502734delCA2584900611RYR1c.7835+7del (n.7835+7del)
c.7832+7del (n.7832+7del)
c.1287+7del
n.7918+7del
gnomAD v4
19g.38502734C>ACA2581382507RYR1c.7835+7C>A (n.7835+7C>A)
c.7832+7C>A (n.7832+7C>A)
c.1287+7C>A
n.7918+7C>A
ClinVar gnomAD v4
19g.38502734C=CA2335054468RYR1c.7835+7C= (n.7835+7C=)
c.7832+7C= (n.7832+7C=)
c.1287+7C=
n.7918+7C=
19g.38502734C>GCA070549RYR1c.7835+7C>G (n.7835+7C>G)
c.7832+7C>G (n.7832+7C>G)
c.1287+7C>G
n.7918+7C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502734C>TCA024857RYR1c.7835+7C>T (n.7835+7C>T)
c.7832+7C>T (n.7832+7C>T)
c.1287+7C>T
n.7918+7C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502734_38502743delCA2584900612RYR1c.7835+7_7835+16del (n.7835+7_7835+16del)
c.7832+7_7832+16del (n.7832+7_7832+16del)
c.1287+7_1287+16del
n.7918+7_7918+16del
gnomAD v4
19g.38502734_38502751delinsCGGGGCAGGCTTCAGGGTCA2335054470RYR1c.7835+7_7835+24delinsCGGGGCAGGCTTCAGGGT (n.7835+7_7835+24delinsCGGGGCAGGCTTCAGGGT)
c.7832+7_7832+24delinsCGGGGCAGGCTTCAGGGT (n.7832+7_7832+24delinsCGGGGCAGGCTTCAGGGT)
c.1287+7_1287+24delinsCGGGGCAGGCTTCAGGGT
n.7918+7_7918+24delinsCGGGGCAGGCTTCAGGGT
19g.38502734_38502763delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCACA2335054471RYR1c.7835+7_7835+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7835+7_7835+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.7832+7_7832+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7832+7_7832+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA)
c.1287+7_1287+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
n.7918+7_7918+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA
19g.38502734_38502769delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCACA2335054469RYR1c.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA)
c.1287+7_1287+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
n.7918+7_7918+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA
19g.38502734_38502816delCA9415823RYR1c.7835+7_7836-64del (n.7835+7_7836-64del)
c.7832+7_7833-64del (n.7832+7_7833-64del)
c.1287+7_1288-64del
n.7918+7_7919-64del
ExAC
19g.38502734_38502735insACA882053909RYR1c.7835+7_7835+8insA (n.7835+7_7835+8insA)
c.7832+7_7832+8insA (n.7832+7_7832+8insA)
c.1287+7_1287+8insA
n.7918+7_7918+8insA
dbSNP gnomAD v4
19g.38502735G>ACA070555RYR1c.7835+8G>A (n.7835+8G>A)
c.7832+8G>A (n.7832+8G>A)
c.1287+8G>A
n.7918+8G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502735G>CCA2584900614RYR1c.7835+8G>C (n.7835+8G>C)
c.7832+8G>C (n.7832+8G>C)
c.1287+8G>C
n.7918+8G>C
ClinVar gnomAD v4
19g.38502735G=CA2335054472RYR1c.7835+8G= (n.7835+8G=)
c.7832+8G= (n.7832+8G=)
c.1287+8G=
n.7918+8G=
19g.38502735G>TCA2584900615RYR1c.7835+8G>T (n.7835+8G>T)
c.7832+8G>T (n.7832+8G>T)
c.1287+8G>T
n.7918+8G>T
gnomAD v4
19g.38502738dupCA2335054473RYR1c.7835+11dup (n.7835+11dup)
c.7832+11dup (n.7832+11dup)
c.1287+11dup
n.7918+11dup
ClinVar dbSNP
19g.38502738delCA2576771086RYR1c.7835+11del (n.7835+11del)
c.7832+11del (n.7832+11del)
c.1287+11del
n.7918+11del
gnomAD v4
19g.38502743_38502759dupCA633066206RYR1c.7835+16_7835+32dup (n.7835+16_7835+32dup)
c.7832+16_7832+32dup (n.7832+16_7832+32dup)
c.1287+16_1287+32dup
n.7918+16_7918+32dup
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502743_38502759delCA633066207RYR1c.7835+16_7835+32del (n.7835+16_7835+32del)
c.7832+16_7832+32del (n.7832+16_7832+32del)
c.1287+16_1287+32del
n.7918+16_7918+32del
dbSNP gnomAD v2 gnomAD v4
19g.38502743_38502771delCA882053910RYR1c.7835+16_7835+44del (n.7835+16_7835+44del)
c.7832+16_7832+44del (n.7832+16_7832+44del)
c.1287+16_1287+44del
n.7918+16_7918+44del
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502743_38502777delCA633066205RYR1c.7835+16_7835+50del (n.7835+16_7835+50del)
c.7832+16_7832+50del (n.7832+16_7832+50del)
c.1287+16_1287+50del
n.7918+16_7918+50del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502743_38502783delCA2584900613RYR1c.7835+16_7835+56del (n.7835+16_7835+56del)
c.7832+16_7832+56del (n.7832+16_7832+56del)
c.1287+16_1287+56del
n.7918+16_7918+56del
gnomAD v4
19g.38502736G>ACA9415825RYR1c.7835+9G>A (n.7835+9G>A)
c.7832+9G>A (n.7832+9G>A)
c.1287+9G>A
n.7918+9G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502736G>CCA2335054475RYR1c.7835+9G>C (n.7835+9G>C)
c.7832+9G>C (n.7832+9G>C)
c.1287+9G>C
n.7918+9G>C
ClinVar dbSNP
19g.38502736G=CA2335054474RYR1c.7835+9G= (n.7835+9G=)
c.7832+9G= (n.7832+9G=)
c.1287+9G=
n.7918+9G=
19g.38502736G>TCA882053915RYR1c.7835+9G>T (n.7835+9G>T)
c.7832+9G>T (n.7832+9G>T)
c.1287+9G>T
n.7918+9G>T
dbSNP
19g.38502738_38502742dupCA920105553RYR1c.7835+11_7835+15dup (n.7835+11_7835+15dup)
c.7832+11_7832+15dup (n.7832+11_7832+15dup)
c.1287+11_1287+15dup
n.7918+11_7918+15dup
dbSNP
19g.38502739_38502754delCA2584900616RYR1c.7835+12_7835+27del (n.7835+12_7835+27del)
c.7832+12_7832+27del (n.7832+12_7832+27del)
c.1287+12_1287+27del
n.7918+12_7918+27del
gnomAD v4
19g.38502737G>ACA070369RYR1c.7835+10G>A (n.7835+10G>A)
c.7832+10G>A (n.7832+10G>A)
c.1287+10G>A
n.7918+10G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502737G>CCA2584900617RYR1c.7835+10G>C (n.7835+10G>C)
c.7832+10G>C (n.7832+10G>C)
c.1287+10G>C
n.7918+10G>C
gnomAD v4
19g.38502737G=CA2335054476RYR1c.7835+10G= (n.7835+10G=)
c.7832+10G= (n.7832+10G=)
c.1287+10G=
n.7918+10G=
19g.38502737G>TCA2576771087RYR1c.7835+10G>T (n.7835+10G>T)
c.7832+10G>T (n.7832+10G>T)
c.1287+10G>T
n.7918+10G>T
19g.38502737_38502816delCA9415824RYR1c.7835+10_7836-64del (n.7835+10_7836-64del)
c.7832+10_7833-64del (n.7832+10_7833-64del)
c.1287+10_1288-64del
n.7918+10_7919-64del
ExAC
19g.38502738G>ACA2576771088RYR1c.7835+11G>A (n.7835+11G>A)
c.7832+11G>A (n.7832+11G>A)
c.1287+11G>A
n.7918+11G>A
ClinVar gnomAD v4
19g.38502738G>CCA633066208RYR1c.7835+11G>C (n.7835+11G>C)
c.7832+11G>C (n.7832+11G>C)
c.1287+11G>C
n.7918+11G>C
dbSNP gnomAD v2 gnomAD v4
19g.38502738G=CA2335054477RYR1c.7835+11G= (n.7835+11G=)
c.7832+11G= (n.7832+11G=)
c.1287+11G=
n.7918+11G=
19g.38502738G>TCA2584900618RYR1c.7835+11G>T (n.7835+11G>T)
c.7832+11G>T (n.7832+11G>T)
c.1287+11G>T
n.7918+11G>T
gnomAD v4
19g.38502738_38502744dupCA2697556556RYR1c.7835+11_7835+17dup (n.7835+11_7835+17dup)
c.7832+11_7832+17dup (n.7832+11_7832+17dup)
c.1287+11_1287+17dup
n.7918+11_7918+17dup
ClinVar
19g.38502739C>ACA658799198RYR1c.7835+12C>A (n.7835+12C>A)
c.7832+12C>A (n.7832+12C>A)
c.1287+12C>A
n.7918+12C>A
ClinVar dbSNP gnomAD v4
19g.38502739C=CA2335054478RYR1c.7835+12C= (n.7835+12C=)
c.7832+12C= (n.7832+12C=)
c.1287+12C=
n.7918+12C=
19g.38502739C>GCA070373RYR1c.7835+12C>G (n.7835+12C>G)
c.7832+12C>G (n.7832+12C>G)
c.1287+12C>G
n.7918+12C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502739C>TCA070375RYR1c.7835+12C>T (n.7835+12C>T)
c.7832+12C>T (n.7832+12C>T)
c.1287+12C>T
n.7918+12C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502739_38502751delinsCAGGCTTCAGGGTCA2335054479RYR1c.7835+12_7835+24delinsCAGGCTTCAGGGT (n.7835+12_7835+24delinsCAGGCTTCAGGGT)
c.7832+12_7832+24delinsCAGGCTTCAGGGT (n.7832+12_7832+24delinsCAGGCTTCAGGGT)
c.1287+12_1287+24delinsCAGGCTTCAGGGT
n.7918+12_7918+24delinsCAGGCTTCAGGGT
19g.38502740A=CA2335054481RYR1c.7835+13A= (n.7835+13A=)
c.7832+13A= (n.7832+13A=)
c.1287+13A=
n.7918+13A=
19g.38502740A>CCA633066210RYR1c.7835+13A>C (n.7835+13A>C)
c.7832+13A>C (n.7832+13A>C)
c.1287+13A>C
n.7918+13A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502740A>GCA2543878801RYR1c.7835+13A>G (n.7835+13A>G)
c.7832+13A>G (n.7832+13A>G)
c.1287+13A>G
n.7918+13A>G
ClinVar dbSNP gnomAD v4
19g.38502740_38502751delCA633066209RYR1c.7835+13_7835+24del (n.7835+13_7835+24del)
c.7832+13_7832+24del (n.7832+13_7832+24del)
c.1287+13_1287+24del
n.7918+13_7918+24del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502740_38502751delinsAGGCTTCAGGGTCA2335054480RYR1c.7835+13_7835+24delinsAGGCTTCAGGGT (n.7835+13_7835+24delinsAGGCTTCAGGGT)
c.7832+13_7832+24delinsAGGCTTCAGGGT (n.7832+13_7832+24delinsAGGCTTCAGGGT)
c.1287+13_1287+24delinsAGGCTTCAGGGT
n.7918+13_7918+24delinsAGGCTTCAGGGT
19g.38502740_38502793delCA2814346922RYR1c.7835+13_7835+66del (n.7835+13_7835+66del)
c.7832+13_7832+66del (n.7832+13_7832+66del)
c.1287+13_1287+66del
n.7918+13_7918+66del
19g.38502741G>ACA2554350659RYR1c.7835+14G>A (n.7835+14G>A)
c.7832+14G>A (n.7832+14G>A)
c.1287+14G>A
n.7918+14G>A
gnomAD v4
19g.38502741G>CCA070384RYR1c.7835+14G>C (n.7835+14G>C)
c.7832+14G>C (n.7832+14G>C)
c.1287+14G>C
n.7918+14G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502741G=CA2335054482RYR1c.7835+14G= (n.7835+14G=)
c.7832+14G= (n.7832+14G=)
c.1287+14G=
n.7918+14G=
19g.38502741G>TCA882053922RYR1c.7835+14G>T (n.7835+14G>T)
c.7832+14G>T (n.7832+14G>T)
c.1287+14G>T
n.7918+14G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502741_38502742dupCA2584900619RYR1c.7835+14_7835+15dup (n.7835+14_7835+15dup)
c.7832+14_7832+15dup (n.7832+14_7832+15dup)
c.1287+14_1287+15dup
n.7918+14_7918+15dup
gnomAD v4
19g.38502743_38502753delCA070380RYR1c.7835+16_7835+26del (n.7835+16_7835+26del)
c.7832+16_7832+26del (n.7832+16_7832+26del)
c.1287+16_1287+26del
n.7918+16_7918+26del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502742G>ACA507353958RYR1c.7835+15G>A (n.7835+15G>A)
c.7832+15G>A (n.7832+15G>A)
c.1287+15G>A
n.7918+15G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502742G>CCA882053923RYR1c.7835+15G>C (n.7835+15G>C)
c.7832+15G>C (n.7832+15G>C)
c.1287+15G>C
n.7918+15G>C
dbSNP
19g.38502742G=CA2335054484RYR1c.7835+15G= (n.7835+15G=)
c.7832+15G= (n.7832+15G=)
c.1287+15G=
n.7918+15G=
19g.38502742_38502745delinsGCTTCA2335054485RYR1c.7835+15_7835+18delinsGCTT (n.7835+15_7835+18delinsGCTT)
c.7832+15_7832+18delinsGCTT (n.7832+15_7832+18delinsGCTT)
c.1287+15_1287+18delinsGCTT
n.7918+15_7918+18delinsGCTT
19g.38502742_38502747delinsGCTTCACA2335054483RYR1c.7835+15_7835+20delinsGCTTCA (n.7835+15_7835+20delinsGCTTCA)
c.7832+15_7832+20delinsGCTTCA (n.7832+15_7832+20delinsGCTTCA)
c.1287+15_1287+20delinsGCTTCA
n.7918+15_7918+20delinsGCTTCA
19g.38502743delCA2580097216RYR1c.7835+16del (n.7835+16del)
c.7832+16del (n.7832+16del)
c.1287+16del
n.7918+16del
ClinVar
19g.38502743C>ACA882053928RYR1c.7835+16C>A (n.7835+16C>A)
c.7832+16C>A (n.7832+16C>A)
c.1287+16C>A
n.7918+16C>A
dbSNP gnomAD v4
19g.38502743C=CA2335054486RYR1c.7835+16C= (n.7835+16C=)
c.7832+16C= (n.7832+16C=)
c.1287+16C=
n.7918+16C=
19g.38502743C>TCA070389RYR1c.7835+16C>T (n.7835+16C>T)
c.7832+16C>T (n.7832+16C>T)
c.1287+16C>T
n.7918+16C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502744_38502746delCA2335054487RYR1c.7835+17_7835+19del (n.7835+17_7835+19del)
c.7832+17_7832+19del (n.7832+17_7832+19del)
c.1287+17_1287+19del
n.7918+17_7918+19del
dbSNP gnomAD v4
19g.38502743_38502747delCA070387RYR1c.7835+16_7835+20del (n.7835+16_7835+20del)
c.7832+16_7832+20del (n.7832+16_7832+20del)
c.1287+16_1287+20del
n.7918+16_7918+20del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502744T>CCA070393RYR1c.7835+17T>C (n.7835+17T>C)
c.7832+17T>C (n.7832+17T>C)
c.1287+17T>C
n.7918+17T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502744T>GCA995717336RYR1c.7835+17T>G (n.7835+17T>G)
c.7832+17T>G (n.7832+17T>G)
c.1287+17T>G
n.7918+17T>G
ClinVar gnomAD v3 gnomAD v4
19g.38502744T=CA2335054488RYR1c.7835+17T= (n.7835+17T=)
c.7832+17T= (n.7832+17T=)
c.1287+17T=
n.7918+17T=
19g.38502745T>ACA2576771089RYR1c.7835+18T>A (n.7835+18T>A)
c.7832+18T>A (n.7832+18T>A)
c.1287+18T>A
n.7918+18T>A
19g.38502745T>CCA2584900620RYR1c.7835+18T>C (n.7835+18T>C)
c.7832+18T>C (n.7832+18T>C)
c.1287+18T>C
n.7918+18T>C
dbSNP gnomAD v4
19g.38502745T>GCA882053930RYR1c.7835+18T>G (n.7835+18T>G)
c.7832+18T>G (n.7832+18T>G)
c.1287+18T>G
n.7918+18T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502745T=CA2335054489RYR1c.7835+18T= (n.7835+18T=)
c.7832+18T= (n.7832+18T=)
c.1287+18T=
n.7918+18T=
19g.38502745_38502769delCA2584900621RYR1c.7835+18_7835+42del (n.7835+18_7835+42del)
c.7832+18_7832+42del (n.7832+18_7832+42del)
c.1287+18_1287+42del
n.7918+18_7918+42del
gnomAD v4
19g.38502745_38502746insGGCA2335054490RYR1c.7835+18_7835+19insGG (n.7835+18_7835+19insGG)
c.7832+18_7832+19insGG (n.7832+18_7832+19insGG)
c.1287+18_1287+19insGG
n.7918+18_7918+19insGG
dbSNP
19g.38502746C>ACA2584900622RYR1c.7835+19C>A (n.7835+19C>A)
c.7832+19C>A (n.7832+19C>A)
c.1287+19C>A
n.7918+19C>A
gnomAD v4
19g.38502746C=CA2335054491RYR1c.7835+19C= (n.7835+19C=)
c.7832+19C= (n.7832+19C=)
c.1287+19C=
n.7918+19C=
19g.38502746C>GCA2584900623RYR1c.7835+19C>G (n.7835+19C>G)
c.7832+19C>G (n.7832+19C>G)
c.1287+19C>G
n.7918+19C>G
gnomAD v4
19g.38502746C>TCA2576771090RYR1c.7835+19C>T (n.7835+19C>T)
c.7832+19C>T (n.7832+19C>T)
c.1287+19C>T
n.7918+19C>T
gnomAD v4
19g.38502746_38502747insGGCA995717341RYR1c.7835+19_7835+20insGG (n.7835+19_7835+20insGG)
c.7832+19_7832+20insGG (n.7832+19_7832+20insGG)
c.1287+19_1287+20insGG
n.7918+19_7918+20insGG
dbSNP gnomAD v3 gnomAD v4
19g.38502747A=CA2335054492RYR1c.7835+20A= (n.7835+20A=)
c.7832+20A= (n.7832+20A=)
c.1287+20A=
n.7918+20A=
19g.38502747A>GCA070400RYR1c.7835+20A>G (n.7835+20A>G)
c.7832+20A>G (n.7832+20A>G)
c.1287+20A>G
n.7918+20A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502747A>TCA2576771091RYR1c.7835+20A>T (n.7835+20A>T)
c.7832+20A>T (n.7832+20A>T)
c.1287+20A>T
n.7918+20A>T
gnomAD v4
19g.38502747_38502751delCA2584900624RYR1c.7835+20_7835+24del (n.7835+20_7835+24del)
c.7832+20_7832+24del (n.7832+20_7832+24del)
c.1287+20_1287+24del
n.7918+20_7918+24del
gnomAD v4
19g.38502747_38502751delinsAGGGTCA2335054493RYR1c.7835+20_7835+24delinsAGGGT (n.7835+20_7835+24delinsAGGGT)
c.7832+20_7832+24delinsAGGGT (n.7832+20_7832+24delinsAGGGT)
c.1287+20_1287+24delinsAGGGT
n.7918+20_7918+24delinsAGGGT
19g.38502747_38502752dupCA070395RYR1c.7835+20_7835+25dup (n.7835+20_7835+25dup)
c.7832+20_7832+25dup (n.7832+20_7832+25dup)
c.1287+20_1287+25dup
n.7918+20_7918+25dup
dbSNP ExAC gnomAD v4
19g.38502748G>ACA070404RYR1c.7835+21G>A (n.7835+21G>A)
c.7832+21G>A (n.7832+21G>A)
c.1287+21G>A
n.7918+21G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502748G>CCA633066212RYR1c.7835+21G>C (n.7835+21G>C)
c.7832+21G>C (n.7832+21G>C)
c.1287+21G>C
n.7918+21G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502748G=CA2335054494RYR1c.7835+21G= (n.7835+21G=)
c.7832+21G= (n.7832+21G=)
c.1287+21G=
n.7918+21G=
19g.38502751_38502754delCA633066211RYR1c.7835+24_7835+27del (n.7835+24_7835+27del)
c.7832+24_7832+27del (n.7832+24_7832+27del)
c.1287+24_1287+27del
n.7918+24_7918+27del
dbSNP gnomAD v2 gnomAD v4
19g.38502750_38502755dupCA9415826RYR1c.7835+23_7835+28dup (n.7835+23_7835+28dup)
c.7832+23_7832+28dup (n.7832+23_7832+28dup)
c.1287+23_1287+28dup
n.7918+23_7918+28dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502751_38502809delCA995717359RYR1c.7835+24_7836-71del (n.7835+24_7836-71del)
c.7832+24_7833-71del (n.7832+24_7833-71del)
c.1287+24_1288-71del
n.7918+24_7919-71del
gnomAD v3 gnomAD v4
19g.38502751_38502810delCA995717362RYR1c.7835+24_7836-70del (n.7835+24_7836-70del)
c.7832+24_7833-70del (n.7832+24_7833-70del)
c.1287+24_1288-70del
n.7918+24_7919-70del
gnomAD v3 gnomAD v4
19g.38502748_38502749insAGTCA995717369RYR1c.7835+21_7835+22insAGT (n.7835+21_7835+22insAGT)
c.7832+21_7832+22insAGT (n.7832+21_7832+22insAGT)
c.1287+21_1287+22insAGT
n.7918+21_7918+22insAGT
dbSNP gnomAD v3 gnomAD v4
19g.38502748_38502749insCGGGGCAGGCTTCACA995717372RYR1c.7835+21_7835+22insCGGGGCAGGCTTCA (n.7835+21_7835+22insCGGGGCAGGCTTCA)
c.7832+21_7832+22insCGGGGCAGGCTTCA (n.7832+21_7832+22insCGGGGCAGGCTTCA)
c.1287+21_1287+22insCGGGGCAGGCTTCA
n.7918+21_7918+22insCGGGGCAGGCTTCA
gnomAD v3 gnomAD v4
19g.38502749G>ACA070407RYR1c.7835+22G>A (n.7835+22G>A)
c.7832+22G>A (n.7832+22G>A)
c.1287+22G>A
n.7918+22G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502749G=CA2335054495RYR1c.7835+22G= (n.7835+22G=)
c.7832+22G= (n.7832+22G=)
c.1287+22G=
n.7918+22G=
19g.38502749_38502750insCACA2584900625RYR1c.7835+22_7835+23insCA (n.7835+22_7835+23insCA)
c.7832+22_7832+23insCA (n.7832+22_7832+23insCA)
c.1287+22_1287+23insCA
n.7918+22_7918+23insCA
gnomAD v4
19g.38502750G>ACA308112503RYR1c.7835+23G>A (n.7835+23G>A)
c.7832+23G>A (n.7832+23G>A)
c.1287+23G>A
n.7918+23G>A
dbSNP gnomAD v4
19g.38502750G>CCA9415828RYR1c.7835+23G>C (n.7835+23G>C)
c.7832+23G>C (n.7832+23G>C)
c.1287+23G>C
n.7918+23G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502750G=CA2335054496RYR1c.7835+23G= (n.7835+23G=)
c.7832+23G= (n.7832+23G=)
c.1287+23G=
n.7918+23G=
19g.38502750G>TCA633066213RYR1c.7835+23G>T (n.7835+23G>T)
c.7832+23G>T (n.7832+23G>T)
c.1287+23G>T
n.7918+23G>T
dbSNP gnomAD v2 gnomAD v4
19g.38502750_38502768delinsGTGGGGCAGGGGCAGGGGCCA2335054497RYR1c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC (n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC)
c.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC (n.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC)
c.1287+23_1287+41delinsGTGGGGCAGGGGCAGGGGC
n.7918+23_7918+41delinsGTGGGGCAGGGGCAGGGGC
19g.38502750_38502751insGCCA995717426RYR1c.7835+23_7835+24insGC (n.7835+23_7835+24insGC)
c.7832+23_7832+24insGC (n.7832+23_7832+24insGC)
c.1287+23_1287+24insGC
n.7918+23_7918+24insGC
dbSNP gnomAD v3 gnomAD v4
19g.38502750_38502751insGGCCA2584900631RYR1c.7835+23_7835+24insGGC (n.7835+23_7835+24insGGC)
c.7832+23_7832+24insGGC (n.7832+23_7832+24insGGC)
c.1287+23_1287+24insGGC
n.7918+23_7918+24insGGC
gnomAD v4
19g.38502750_38502751insGGGCCA2584900632RYR1c.7835+23_7835+24insGGGC (n.7835+23_7835+24insGGGC)
c.7832+23_7832+24insGGGC (n.7832+23_7832+24insGGGC)
c.1287+23_1287+24insGGGC
n.7918+23_7918+24insGGGC
gnomAD v4
19g.38502750_38502751insGGGGGCCA2584900629RYR1c.7835+23_7835+24insGGGGGC (n.7835+23_7835+24insGGGGGC)
c.7832+23_7832+24insGGGGGC (n.7832+23_7832+24insGGGGGC)
c.1287+23_1287+24insGGGGGC
n.7918+23_7918+24insGGGGGC
gnomAD v4
19g.38502750_38502751insGCAGGGGCCA2584900630RYR1c.7835+23_7835+24insGCAGGGGC (n.7835+23_7835+24insGCAGGGGC)
c.7832+23_7832+24insGCAGGGGC (n.7832+23_7832+24insGCAGGGGC)
c.1287+23_1287+24insGCAGGGGC
n.7918+23_7918+24insGCAGGGGC
gnomAD v4
19g.38502750_38502751insGGCTGGGGCCA995717422RYR1c.7835+23_7835+24insGGCTGGGGC (n.7835+23_7835+24insGGCTGGGGC)
c.7832+23_7832+24insGGCTGGGGC (n.7832+23_7832+24insGGCTGGGGC)
c.1287+23_1287+24insGGCTGGGGC
n.7918+23_7918+24insGGCTGGGGC
dbSNP gnomAD v3 gnomAD v4
19g.38502750_38502751insGGGCAGGGGCCA2584900628RYR1c.7835+23_7835+24insGGGCAGGGGC (n.7835+23_7835+24insGGGCAGGGGC)
c.7832+23_7832+24insGGGCAGGGGC (n.7832+23_7832+24insGGGCAGGGGC)
c.1287+23_1287+24insGGGCAGGGGC
n.7918+23_7918+24insGGGCAGGGGC
gnomAD v4
19g.38502750_38502751insGCAGGGGCAGGGGCCA2584900626RYR1c.7835+23_7835+24insGCAGGGGCAGGGGC (n.7835+23_7835+24insGCAGGGGCAGGGGC)
c.7832+23_7832+24insGCAGGGGCAGGGGC (n.7832+23_7832+24insGCAGGGGCAGGGGC)
c.1287+23_1287+24insGCAGGGGCAGGGGC
n.7918+23_7918+24insGCAGGGGCAGGGGC
gnomAD v4
19g.38502750_38502751insGGGGGCAGGGGCAGGGGCAGGGGCCA633066214RYR1c.7835+23_7835+24insGGGGGCAGGGGCAGGGGCAGGGGC (n.7835+23_7835+24insGGGGGCAGGGGCAGGGGCAGGGGC)
c.7832+23_7832+24insGGGGGCAGGGGCAGGGGCAGGGGC (n.7832+23_7832+24insGGGGGCAGGGGCAGGGGCAGGGGC)
c.1287+23_1287+24insGGGGGCAGGGGCAGGGGCAGGGGC
n.7918+23_7918+24insGGGGGCAGGGGCAGGGGCAGGGGC
gnomAD v2
19g.38502751delCA995717424RYR1c.7835+24del (n.7835+24del)
c.7832+24del (n.7832+24del)
c.1287+24del
n.7918+24del
gnomAD v3 gnomAD v4
19g.38502751T>ACA882053941RYR1c.7835+24T>A (n.7835+24T>A)
c.7832+24T>A (n.7832+24T>A)
c.1287+24T>A
n.7918+24T>A
dbSNP gnomAD v3 gnomAD v4
19g.38502751T>CCA882053940RYR1c.7835+24T>C (n.7835+24T>C)
c.7832+24T>C (n.7832+24T>C)
c.1287+24T>C
n.7918+24T>C
dbSNP gnomAD v4
19g.38502751T>GCA995717400RYR1c.7835+24T>G (n.7835+24T>G)
c.7832+24T>G (n.7832+24T>G)
c.1287+24T>G
n.7918+24T>G
dbSNP gnomAD v3 gnomAD v4
19g.38502751T=CA2335054498RYR1c.7835+24T= (n.7835+24T=)
c.7832+24T= (n.7832+24T=)
c.1287+24T=
n.7918+24T=
19g.38502751_38502753delinsTGGCA2335054499RYR1c.7835+24_7835+26delinsTGG (n.7835+24_7835+26delinsTGG)
c.7832+24_7832+26delinsTGG (n.7832+24_7832+26delinsTGG)
c.1287+24_1287+26delinsTGG
n.7918+24_7918+26delinsTGG
19g.38502751_38502755delinsTGGGGCA2335054500RYR1c.7835+24_7835+28delinsTGGGG (n.7835+24_7835+28delinsTGGGG)
c.7832+24_7832+28delinsTGGGG (n.7832+24_7832+28delinsTGGGG)
c.1287+24_1287+28delinsTGGGG
n.7918+24_7918+28delinsTGGGG
19g.38502751_38502756delCA9415829RYR1c.7835+24_7835+29del (n.7835+24_7835+29del)
c.7832+24_7832+29del (n.7832+24_7832+29del)
c.1287+24_1287+29del
n.7918+24_7918+29del
ExAC
19g.38502751_38502756dupCA995717412RYR1c.7835+24_7835+29dup (n.7835+24_7835+29dup)
c.7832+24_7832+29dup (n.7832+24_7832+29dup)
c.1287+24_1287+29dup
n.7918+24_7918+29dup
dbSNP gnomAD v3 gnomAD v4
19g.38502751_38502757delinsTGGGGCACA2588340239RYR1c.7835+24_7835+30delinsTGGGGCA (n.7835+24_7835+30delinsTGGGGCA)
c.7832+24_7832+30delinsTGGGGCA (n.7832+24_7832+30delinsTGGGGCA)
c.1287+24_1287+30delinsTGGGGCA
n.7918+24_7918+30delinsTGGGGCA
19g.38502751_38502762dupCA2576771100RYR1c.7835+24_7835+35dup (n.7835+24_7835+35dup)
c.7832+24_7832+35dup (n.7832+24_7832+35dup)
c.1287+24_1287+35dup
n.7918+24_7918+35dup
19g.38502751_38502768delCA920105555RYR1c.7835+24_7835+41del (n.7835+24_7835+41del)
c.7832+24_7832+41del (n.7832+24_7832+41del)
c.1287+24_1287+41del
n.7918+24_7918+41del
dbSNP
19g.38502751_38502792delCA2584900627RYR1c.7835+24_7835+65del (n.7835+24_7835+65del)
c.7832+24_7832+65del (n.7832+24_7832+65del)
c.1287+24_1287+65del
n.7918+24_7918+65del
gnomAD v4
19g.38502751_38502793delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCACA2335054502RYR1c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA)
c.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA)
c.1287+24_1287+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
n.7918+24_7918+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
19g.38502751_38502816delCA9415827RYR1c.7835+24_7836-64del (n.7835+24_7836-64del)
c.7832+24_7833-64del (n.7832+24_7833-64del)
c.1287+24_1288-64del
n.7918+24_7919-64del
ExAC gnomAD v3 gnomAD v4
19g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCACA2335054501RYR1c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA)
c.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA)
c.1287+24_1288-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA
n.7918+24_7919-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA
19g.38502751_38502752insTGGGGCAGGGGCACA995717456RYR1c.7835+24_7835+25insTGGGGCAGGGGCA (n.7835+24_7835+25insTGGGGCAGGGGCA)
c.7832+24_7832+25insTGGGGCAGGGGCA (n.7832+24_7832+25insTGGGGCAGGGGCA)
c.1287+24_1287+25insTGGGGCAGGGGCA
n.7918+24_7918+25insTGGGGCAGGGGCA
dbSNP gnomAD v3 gnomAD v4
19g.38502752G>ACA070430RYR1c.7835+25G>A (n.7835+25G>A)
c.7832+25G>A (n.7832+25G>A)
c.1287+25G>A
n.7918+25G>A
dbSNP ExAC
19g.38502752G>CCA995717510RYR1c.7835+25G>C (n.7835+25G>C)
c.7832+25G>C (n.7832+25G>C)
c.1287+25G>C
n.7918+25G>C
dbSNP gnomAD v3 gnomAD v4
19g.38502752G=CA2335054504RYR1c.7835+25G= (n.7835+25G=)
c.7832+25G= (n.7832+25G=)
c.1287+25G=
n.7918+25G=
19g.38502752_38502753insAGGCAGCA2584900644RYR1c.7835+25_7835+26insAGGCAG (n.7835+25_7835+26insAGGCAG)
c.7832+25_7832+26insAGGCAG (n.7832+25_7832+26insAGGCAG)
c.1287+25_1287+26insAGGCAG
n.7918+25_7918+26insAGGCAG
gnomAD v4
19g.38502753_38502754insAGCGGCA2584900645RYR1c.7835+26_7835+27insAGCGG (n.7835+26_7835+27insAGCGG)
c.7832+26_7832+27insAGCGG (n.7832+26_7832+27insAGCGG)
c.1287+26_1287+27insAGCGG
n.7918+26_7918+27insAGCGG
gnomAD v4
19g.38502753_38502754insCGCAGGCA995717527RYR1c.7835+26_7835+27insCGCAGG (n.7835+26_7835+27insCGCAGG)
c.7832+26_7832+27insCGCAGG (n.7832+26_7832+27insCGCAGG)
c.1287+26_1287+27insCGCAGG
n.7918+26_7918+27insCGCAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502753_38502754insAGCAGGGGCAGGCA2584900646RYR1c.7835+26_7835+27insAGCAGGGGCAGG (n.7835+26_7835+27insAGCAGGGGCAGG)
c.7832+26_7832+27insAGCAGGGGCAGG (n.7832+26_7832+27insAGCAGGGGCAGG)
c.1287+26_1287+27insAGCAGGGGCAGG
n.7918+26_7918+27insAGCAGGGGCAGG
gnomAD v4
19g.38502753_38502754insCGCAGGGGCAGGGGCAGGCA995717533RYR1c.7835+26_7835+27insCGCAGGGGCAGGGGCAGG (n.7835+26_7835+27insCGCAGGGGCAGGGGCAGG)
c.7832+26_7832+27insCGCAGGGGCAGGGGCAGG (n.7832+26_7832+27insCGCAGGGGCAGGGGCAGG)
c.1287+26_1287+27insCGCAGGGGCAGGGGCAGG
n.7918+26_7918+27insCGCAGGGGCAGGGGCAGG
gnomAD v3 gnomAD v4
19g.38502753_38502754insAGCGGGGCAGGCTTCAGGGTGGGGCAGGCA2584900647RYR1c.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG (n.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG)
c.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG (n.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG)
c.1287+26_1287+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG
n.7918+26_7918+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG
gnomAD v4
19g.38502753_38502754insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGCA2584900648RYR1c.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+26_1287+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+26_7918+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502754_38502755insACAGGGCA2582145373RYR1c.7835+27_7835+28insACAGGG (n.7835+27_7835+28insACAGGG)
c.7832+27_7832+28insACAGGG (n.7832+27_7832+28insACAGGG)
c.1287+27_1287+28insACAGGG
n.7918+27_7918+28insACAGGG
gnomAD v3 gnomAD v4
19g.38502754_38502755insACAGGGGCAGGGCA2584900649RYR1c.7835+27_7835+28insACAGGGGCAGGG (n.7835+27_7835+28insACAGGGGCAGGG)
c.7832+27_7832+28insACAGGGGCAGGG (n.7832+27_7832+28insACAGGGGCAGGG)
c.1287+27_1287+28insACAGGGGCAGGG
n.7918+27_7918+28insACAGGGGCAGGG
gnomAD v4
19g.38502754_38502755insACAGGGGCAGGGGCAGGGGCAGGGCA2584900650RYR1c.7835+27_7835+28insACAGGGGCAGGGGCAGGGGCAGGG (n.7835+27_7835+28insACAGGGGCAGGGGCAGGGGCAGGG)
c.7832+27_7832+28insACAGGGGCAGGGGCAGGGGCAGGG (n.7832+27_7832+28insACAGGGGCAGGGGCAGGGGCAGGG)
c.1287+27_1287+28insACAGGGGCAGGGGCAGGGGCAGGG
n.7918+27_7918+28insACAGGGGCAGGGGCAGGGGCAGGG
gnomAD v4
19g.38502754_38502755insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA920105556RYR1c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+27_1287+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+27_7918+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP
19g.38502752_38502755delCA995717480RYR1c.7835+25_7835+28del (n.7835+25_7835+28del)
c.7832+25_7832+28del (n.7832+25_7832+28del)
c.1287+25_1287+28del
n.7918+25_7918+28del
dbSNP gnomAD v3 gnomAD v4
19g.38502755_38502756insAAGGGGCA2584900651RYR1c.7835+28_7835+29insAAGGGG (n.7835+28_7835+29insAAGGGG)
c.7832+28_7832+29insAAGGGG (n.7832+28_7832+29insAAGGGG)
c.1287+28_1287+29insAAGGGG
n.7918+28_7918+29insAAGGGG
gnomAD v4
19g.38502755_38502756insTAGGGGCA2584900641RYR1c.7835+28_7835+29insTAGGGG (n.7835+28_7835+29insTAGGGG)
c.7832+28_7832+29insTAGGGG (n.7832+28_7832+29insTAGGGG)
c.1287+28_1287+29insTAGGGG
n.7918+28_7918+29insTAGGGG
gnomAD v4
19g.38502755_38502756insGCAGGGGCA2584900640RYR1c.7835+28_7835+29insGCAGGGG (n.7835+28_7835+29insGCAGGGG)
c.7832+28_7832+29insGCAGGGG (n.7832+28_7832+29insGCAGGGG)
c.1287+28_1287+29insGCAGGGG
n.7918+28_7918+29insGCAGGGG
gnomAD v4
19g.38502755_38502756insGTGGGGCAGGGGCA882053957RYR1c.7835+28_7835+29insGTGGGGCAGGGG (n.7835+28_7835+29insGTGGGGCAGGGG)
c.7832+28_7832+29insGTGGGGCAGGGG (n.7832+28_7832+29insGTGGGGCAGGGG)
c.1287+28_1287+29insGTGGGGCAGGGG
n.7918+28_7918+29insGTGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502755_38502756insGTGGGGCAGGGGCAGGGGCA2535042797RYR1c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG (n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG)
c.7832+28_7832+29insGTGGGGCAGGGGCAGGGG (n.7832+28_7832+29insGTGGGGCAGGGGCAGGGG)
c.1287+28_1287+29insGTGGGGCAGGGGCAGGGG
n.7918+28_7918+29insGTGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502755_38502756insGTGGGGCAGGGGCAGGGGCAGGGGCA995717455RYR1c.7835+28_7835+29insGTGGGGCAGGGGCAGGGGCAGGGG (n.7835+28_7835+29insGTGGGGCAGGGGCAGGGGCAGGGG)
c.7832+28_7832+29insGTGGGGCAGGGGCAGGGGCAGGGG (n.7832+28_7832+29insGTGGGGCAGGGGCAGGGGCAGGGG)
c.1287+28_1287+29insGTGGGGCAGGGGCAGGGGCAGGGG
n.7918+28_7918+29insGTGGGGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502755delCA2584900642RYR1c.7835+28del (n.7835+28del)
c.7832+28del (n.7832+28del)
c.1287+28del
n.7918+28del
gnomAD v4
19g.38502754_38502755delCA995717459RYR1c.7835+27_7835+28del (n.7835+27_7835+28del)
c.7832+27_7832+28del (n.7832+27_7832+28del)
c.1287+27_1287+28del
n.7918+27_7918+28del
dbSNP gnomAD v3 gnomAD v4
19g.38502752_38502756delinsGGGGCCA2335054503RYR1c.7835+25_7835+29delinsGGGGC (n.7835+25_7835+29delinsGGGGC)
c.7832+25_7832+29delinsGGGGC (n.7832+25_7832+29delinsGGGGC)
c.1287+25_1287+29delinsGGGGC
n.7918+25_7918+29delinsGGGGC
19g.38502756_38502757insGGGGGCCA2584900639RYR1c.7835+29_7835+30insGGGGGC (n.7835+29_7835+30insGGGGGC)
c.7832+29_7832+30insGGGGGC (n.7832+29_7832+30insGGGGGC)
c.1287+29_1287+30insGGGGGC
n.7918+29_7918+30insGGGGGC
gnomAD v4
19g.38502757_38502758insAGGGCAGGGGCACA2584900652RYR1c.7835+30_7835+31insAGGGCAGGGGCA (n.7835+30_7835+31insAGGGCAGGGGCA)
c.7832+30_7832+31insAGGGCAGGGGCA (n.7832+30_7832+31insAGGGCAGGGGCA)
c.1287+30_1287+31insAGGGCAGGGGCA
n.7918+30_7918+31insAGGGCAGGGGCA
gnomAD v4
19g.38502757_38502758insCGGGCAGGGGCAGGGGCACA995717536RYR1c.7835+30_7835+31insCGGGCAGGGGCAGGGGCA (n.7835+30_7835+31insCGGGCAGGGGCAGGGGCA)
c.7832+30_7832+31insCGGGCAGGGGCAGGGGCA (n.7832+30_7832+31insCGGGCAGGGGCAGGGGCA)
c.1287+30_1287+31insCGGGCAGGGGCAGGGGCA
n.7918+30_7918+31insCGGGCAGGGGCAGGGGCA
dbSNP gnomAD v3 gnomAD v4
19g.38502758_38502759insAGGCAGGGGCAGCA995717537RYR1c.7835+31_7835+32insAGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAG)
c.7832+31_7832+32insAGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAG)
c.1287+31_1287+32insAGGCAGGGGCAG
n.7918+31_7918+32insAGGCAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502758_38502759insTGGCAGGGGCAGCA2522885460RYR1c.7835+31_7835+32insTGGCAGGGGCAG (n.7835+31_7835+32insTGGCAGGGGCAG)
c.7832+31_7832+32insTGGCAGGGGCAG (n.7832+31_7832+32insTGGCAGGGGCAG)
c.1287+31_1287+32insTGGCAGGGGCAG
n.7918+31_7918+32insTGGCAGGGGCAG
gnomAD v4
19g.38502758_38502759insAGGCAGGGGCAGGGGCAGCA2584900653RYR1c.7835+31_7835+32insAGGCAGGGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAGGGGCAG)
c.7832+31_7832+32insAGGCAGGGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAGGGGCAG)
c.1287+31_1287+32insAGGCAGGGGCAGGGGCAG
n.7918+31_7918+32insAGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502758_38502759insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGCA2584900654RYR1c.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.1287+31_1287+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
n.7918+31_7918+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502758_38502759insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGCA2814346984RYR1c.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.1287+31_1287+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
n.7918+31_7918+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
19g.38502759_38502760insAGCAGGGGCAGGCA2584900655RYR1c.7835+32_7835+33insAGCAGGGGCAGG (n.7835+32_7835+33insAGCAGGGGCAGG)
c.7832+32_7832+33insAGCAGGGGCAGG (n.7832+32_7832+33insAGCAGGGGCAGG)
c.1287+32_1287+33insAGCAGGGGCAGG
n.7918+32_7918+33insAGCAGGGGCAGG
gnomAD v4
19g.38502759_38502760insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGCA995717540RYR1c.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG (n.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG)
c.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG (n.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG)
c.1287+32_1287+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG
n.7918+32_7918+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG
gnomAD v3 gnomAD v4
19g.38502759_38502760insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGCA2584900656RYR1c.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+32_1287+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+32_7918+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502759_38502760insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGCA2584900657RYR1c.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+32_1287+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+32_7918+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502760_38502761insACAGGGGCAGGGCA2584900658RYR1c.7835+33_7835+34insACAGGGGCAGGG (n.7835+33_7835+34insACAGGGGCAGGG)
c.7832+33_7832+34insACAGGGGCAGGG (n.7832+33_7832+34insACAGGGGCAGGG)
c.1287+33_1287+34insACAGGGGCAGGG
n.7918+33_7918+34insACAGGGGCAGGG
gnomAD v4
19g.38502760_38502761insTCAGGGGCAGGGCA2584900637RYR1c.7835+33_7835+34insTCAGGGGCAGGG (n.7835+33_7835+34insTCAGGGGCAGGG)
c.7832+33_7832+34insTCAGGGGCAGGG (n.7832+33_7832+34insTCAGGGGCAGGG)
c.1287+33_1287+34insTCAGGGGCAGGG
n.7918+33_7918+34insTCAGGGGCAGGG
gnomAD v4
19g.38502760_38502761insTGGGGCAGGGGCAGGGCA2584900638RYR1c.7835+33_7835+34insTGGGGCAGGGGCAGGG (n.7835+33_7835+34insTGGGGCAGGGGCAGGG)
c.7832+33_7832+34insTGGGGCAGGGGCAGGG (n.7832+33_7832+34insTGGGGCAGGGGCAGGG)
c.1287+33_1287+34insTGGGGCAGGGGCAGGG
n.7918+33_7918+34insTGGGGCAGGGGCAGGG
gnomAD v4
19g.38502760_38502761insACAGGGGCAGGGGCAGGGGCAGGGCA2584900659RYR1c.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGG (n.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGG)
c.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGG (n.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGG)
c.1287+33_1287+34insACAGGGGCAGGGGCAGGGGCAGGG
n.7918+33_7918+34insACAGGGGCAGGGGCAGGGGCAGGG
gnomAD v4
19g.38502760_38502761insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGCA2584900660RYR1c.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG)
c.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG)
c.1287+33_1287+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG
n.7918+33_7918+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG
gnomAD v4
19g.38502762_38502763insCGGGGCAGGGGCCA2584900636RYR1c.7835+35_7835+36insCGGGGCAGGGGC (n.7835+35_7835+36insCGGGGCAGGGGC)
c.7832+35_7832+36insCGGGGCAGGGGC (n.7832+35_7832+36insCGGGGCAGGGGC)
c.1287+35_1287+36insCGGGGCAGGGGC
n.7918+35_7918+36insCGGGGCAGGGGC
gnomAD v4
19g.38502764_38502765insAGGCAGGGGCAGGGGCAGCA2584900661RYR1c.7835+37_7835+38insAGGCAGGGGCAGGGGCAG (n.7835+37_7835+38insAGGCAGGGGCAGGGGCAG)
c.7832+37_7832+38insAGGCAGGGGCAGGGGCAG (n.7832+37_7832+38insAGGCAGGGGCAGGGGCAG)
c.1287+37_1287+38insAGGCAGGGGCAGGGGCAG
n.7918+37_7918+38insAGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502764_38502765insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGCA2584900662RYR1c.7835+37_7835+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7835+37_7835+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.7832+37_7832+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7832+37_7832+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.1287+37_1287+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
n.7918+37_7918+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502765_38502766insAGCAGGGGCAGGGGCAGGGGCAGGCA995717558RYR1c.7835+38_7835+39insAGCAGGGGCAGGGGCAGGGGCAGG (n.7835+38_7835+39insAGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+38_7832+39insAGCAGGGGCAGGGGCAGGGGCAGG (n.7832+38_7832+39insAGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+38_1287+39insAGCAGGGGCAGGGGCAGGGGCAGG
n.7918+38_7918+39insAGCAGGGGCAGGGGCAGGGGCAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502768_38502769insCGGGGCAGGGGCAGGGGCAGGGGCCA2814346988RYR1c.7835+41_7835+42insCGGGGCAGGGGCAGGGGCAGGGGC (n.7835+41_7835+42insCGGGGCAGGGGCAGGGGCAGGGGC)
c.7832+41_7832+42insCGGGGCAGGGGCAGGGGCAGGGGC (n.7832+41_7832+42insCGGGGCAGGGGCAGGGGCAGGGGC)
c.1287+41_1287+42insCGGGGCAGGGGCAGGGGCAGGGGC
n.7918+41_7918+42insCGGGGCAGGGGCAGGGGCAGGGGC
19g.38502771_38502772insAGCAGGGGCAGGGGCAGGGGCAGGCA2584900663RYR1c.7835+44_7835+45insAGCAGGGGCAGGGGCAGGGGCAGG (n.7835+44_7835+45insAGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+44_7832+45insAGCAGGGGCAGGGGCAGGGGCAGG (n.7832+44_7832+45insAGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+44_1287+45insAGCAGGGGCAGGGGCAGGGGCAGG
n.7918+44_7918+45insAGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502771_38502772insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGCA2584900643RYR1c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+44_1287+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+44_7918+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900635RYR1c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900633RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900634RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502804_38502809dupCA633066215RYR1c.7836-76_7836-71dup (n.7836-76_7836-71dup)
c.7833-76_7833-71dup (n.7833-76_7833-71dup)
c.1288-76_1288-71dup
n.7919-76_7919-71dup
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502798_38502809dupCA633066216RYR1c.7835+71_7836-71dup (n.7835+71_7836-71dup)
c.7832+71_7833-71dup (n.7832+71_7833-71dup)
c.1287+71_1288-71dup
n.7918+71_7919-71dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502792_38502809dupCA633066217RYR1c.7835+65_7836-71dup (n.7835+65_7836-71dup)
c.7832+65_7833-71dup (n.7832+65_7833-71dup)
c.1287+65_1288-71dup
n.7918+65_7919-71dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502786_38502809dupCA920105557RYR1c.7835+59_7836-71dup (n.7835+59_7836-71dup)
c.7832+59_7833-71dup (n.7832+59_7833-71dup)
c.1287+59_1288-71dup
n.7918+59_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502780_38502809dupCA995717544RYR1c.7835+53_7836-71dup (n.7835+53_7836-71dup)
c.7832+53_7833-71dup (n.7832+53_7833-71dup)
c.1287+53_1288-71dup
n.7918+53_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502774_38502809dupCA995717550RYR1c.7835+47_7836-71dup (n.7835+47_7836-71dup)
c.7832+47_7833-71dup (n.7832+47_7833-71dup)
c.1287+47_1288-71dup
n.7918+47_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502768_38502809dupCA995717552RYR1c.7835+41_7836-71dup (n.7835+41_7836-71dup)
c.7832+41_7833-71dup (n.7832+41_7833-71dup)
c.1287+41_1288-71dup
n.7918+41_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502762_38502809dupCA995717512RYR1c.7835+35_7836-71dup (n.7835+35_7836-71dup)
c.7832+35_7833-71dup (n.7832+35_7833-71dup)
c.1287+35_1288-71dup
n.7918+35_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502756_38502809dupCA995717513RYR1c.7835+29_7836-71dup (n.7835+29_7836-71dup)
c.7832+29_7833-71dup (n.7832+29_7833-71dup)
c.1287+29_1288-71dup
n.7918+29_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502804_38502809delCA9415831RYR1c.7836-76_7836-71del (n.7836-76_7836-71del)
c.7833-76_7833-71del (n.7833-76_7833-71del)
c.1288-76_1288-71del
n.7919-76_7919-71del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502798_38502809delCA9415832RYR1c.7835+71_7836-71del (n.7835+71_7836-71del)
c.7832+71_7833-71del (n.7832+71_7833-71del)
c.1287+71_1288-71del
n.7918+71_7919-71del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502792_38502809delCA9415830RYR1c.7835+65_7836-71del (n.7835+65_7836-71del)
c.7832+65_7833-71del (n.7832+65_7833-71del)
c.1287+65_1288-71del
n.7918+65_7919-71del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502786_38502809delCA9415834RYR1c.7835+59_7836-71del (n.7835+59_7836-71del)
c.7832+59_7833-71del (n.7832+59_7833-71del)
c.1287+59_1288-71del
n.7918+59_7919-71del
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502780_38502809delCA9415833RYR1c.7835+53_7836-71del (n.7835+53_7836-71del)
c.7832+53_7833-71del (n.7832+53_7833-71del)
c.1287+53_1288-71del
n.7918+53_7919-71del
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502774_38502809delCA070415RYR1c.7835+47_7836-71del (n.7835+47_7836-71del)
c.7832+47_7833-71del (n.7832+47_7833-71del)
c.1287+47_1288-71del
n.7918+47_7919-71del
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502768_38502809delCA995717500RYR1c.7835+41_7836-71del (n.7835+41_7836-71del)
c.7832+41_7833-71del (n.7832+41_7833-71del)
c.1287+41_1288-71del
n.7918+41_7919-71del
dbSNP gnomAD v3 gnomAD v4
19g.38502762_38502809delCA995717501RYR1c.7835+35_7836-71del (n.7835+35_7836-71del)
c.7832+35_7833-71del (n.7832+35_7833-71del)
c.1287+35_1288-71del
n.7918+35_7919-71del
gnomAD v3 gnomAD v4
19g.38502754_38502813delCA995717505RYR1c.7835+27_7836-67del (n.7835+27_7836-67del)
c.7832+27_7833-67del (n.7832+27_7833-67del)
c.1287+27_1288-67del
n.7918+27_7919-67del
gnomAD v3 gnomAD v4
19g.38502765_38502830delCA995717507RYR1c.7835+38_7836-50del (n.7835+38_7836-50del)
c.7832+38_7833-50del (n.7832+38_7833-50del)
c.1287+38_1288-50del
n.7918+38_7919-50del
dbSNP gnomAD v3 gnomAD v4
19g.38502753G>ACA633066219RYR1c.7835+26G>A (n.7835+26G>A)
c.7832+26G>A (n.7832+26G>A)
c.1287+26G>A
n.7918+26G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502753G>CCA070435RYR1c.7835+26G>C (n.7835+26G>C)
c.7832+26G>C (n.7832+26G>C)
c.1287+26G>C
n.7918+26G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502753G=CA2335054505RYR1c.7835+26G= (n.7835+26G=)
c.7832+26G= (n.7832+26G=)
c.1287+26G=
n.7918+26G=
19g.38502753G>TCA070440RYR1c.7835+26G>T (n.7835+26G>T)
c.7832+26G>T (n.7832+26G>T)
c.1287+26G>T
n.7918+26G>T
dbSNP ExAC
19g.38502753_38502756delCA633066218RYR1c.7835+26_7835+29del (n.7835+26_7835+29del)
c.7832+26_7832+29del (n.7832+26_7832+29del)
c.1287+26_1287+29del
n.7918+26_7918+29del
dbSNP gnomAD v2 gnomAD v4
19g.38502754G>ACA633066220RYR1c.7835+27G>A (n.7835+27G>A)
c.7832+27G>A (n.7832+27G>A)
c.1287+27G>A
n.7918+27G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502754G>CCA9415837RYR1c.7835+27G>C (n.7835+27G>C)
c.7832+27G>C (n.7832+27G>C)
c.1287+27G>C
n.7918+27G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502754G=CA2335054508RYR1c.7835+27G= (n.7835+27G=)
c.7832+27G= (n.7832+27G=)
c.1287+27G=
n.7918+27G=
19g.38502754_38502756delCA2584900665RYR1c.7835+27_7835+29del (n.7835+27_7835+29del)
c.7832+27_7832+29del (n.7832+27_7832+29del)
c.1287+27_1287+29del
n.7918+27_7918+29del
gnomAD v4
19g.38502754_38502756delinsGGCCA2335054506RYR1c.7835+27_7835+29delinsGGC (n.7835+27_7835+29delinsGGC)
c.7832+27_7832+29delinsGGC (n.7832+27_7832+29delinsGGC)
c.1287+27_1287+29delinsGGC
n.7918+27_7918+29delinsGGC
19g.38502758_38502759insAGGCAGCA9415835RYR1c.7835+31_7835+32insAGGCAG (n.7835+31_7835+32insAGGCAG)
c.7832+31_7832+32insAGGCAG (n.7832+31_7832+32insAGGCAG)
c.1287+31_1287+32insAGGCAG
n.7918+31_7918+32insAGGCAG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502764_38502765insAGGCAGGGGCAGCA633066221RYR1c.7835+37_7835+38insAGGCAGGGGCAG (n.7835+37_7835+38insAGGCAGGGGCAG)
c.7832+37_7832+38insAGGCAGGGGCAG (n.7832+37_7832+38insAGGCAGGGGCAG)
c.1287+37_1287+38insAGGCAGGGGCAG
n.7918+37_7918+38insAGGCAGGGGCAG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502764_38502765insCGGCAGGGGCAGCA2735909549RYR1c.7835+37_7835+38insCGGCAGGGGCAG (n.7835+37_7835+38insCGGCAGGGGCAG)
c.7832+37_7832+38insCGGCAGGGGCAG (n.7832+37_7832+38insCGGCAGGGGCAG)
c.1287+37_1287+38insCGGCAGGGGCAG
n.7918+37_7918+38insCGGCAGGGGCAG
dbSNP
19g.38502770_38502771insAGGCAGGGGCAGGGGCAGCA2584900664RYR1c.7835+43_7835+44insAGGCAGGGGCAGGGGCAG (n.7835+43_7835+44insAGGCAGGGGCAGGGGCAG)
c.7832+43_7832+44insAGGCAGGGGCAGGGGCAG (n.7832+43_7832+44insAGGCAGGGGCAGGGGCAG)
c.1287+43_1287+44insAGGCAGGGGCAGGGGCAG
n.7918+43_7918+44insAGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502754_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054507RYR1c.7835+27_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+27_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+27_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+27_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+27_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+27_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502755G>ACA9415839RYR1c.7835+28G>A (n.7835+28G>A)
c.7832+28G>A (n.7832+28G>A)
c.1287+28G>A
n.7918+28G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502755G=CA2335054509RYR1c.7835+28G= (n.7835+28G=)
c.7832+28G= (n.7832+28G=)
c.1287+28G=
n.7918+28G=
19g.38502755G>TCA995717572RYR1c.7835+28G>T (n.7835+28G>T)
c.7832+28G>T (n.7832+28G>T)
c.1287+28G>T
n.7918+28G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502755_38502756delCA995717585RYR1c.7835+28_7835+29del (n.7835+28_7835+29del)
c.7832+28_7832+29del (n.7832+28_7832+29del)
c.1287+28_1287+29del
n.7918+28_7918+29del
dbSNP gnomAD v3 gnomAD v4
19g.38502755_38502757delinsGCACA2335054510RYR1c.7835+28_7835+30delinsGCA (n.7835+28_7835+30delinsGCA)
c.7832+28_7832+30delinsGCA (n.7832+28_7832+30delinsGCA)
c.1287+28_1287+30delinsGCA
n.7918+28_7918+30delinsGCA
19g.38502755_38502762delinsGCAGGGGCCA2335054511RYR1c.7835+28_7835+35delinsGCAGGGGC (n.7835+28_7835+35delinsGCAGGGGC)
c.7832+28_7832+35delinsGCAGGGGC (n.7832+28_7832+35delinsGCAGGGGC)
c.1287+28_1287+35delinsGCAGGGGC
n.7918+28_7918+35delinsGCAGGGGC
19g.38502771_38502830delCA9415836RYR1c.7835+44_7836-50del (n.7835+44_7836-50del)
c.7832+44_7833-50del (n.7832+44_7833-50del)
c.1287+44_1288-50del
n.7918+44_7919-50del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502756C>ACA2584900666RYR1c.7835+29C>A (n.7835+29C>A)
c.7832+29C>A (n.7832+29C>A)
c.1287+29C>A
n.7918+29C>A
gnomAD v4
19g.38502756C=CA2335054513RYR1c.7835+29C= (n.7835+29C=)
c.7832+29C= (n.7832+29C=)
c.1287+29C=
n.7918+29C=
19g.38502756C>GCA633066223RYR1c.7835+29C>G (n.7835+29C>G)
c.7832+29C>G (n.7832+29C>G)
c.1287+29C>G
n.7918+29C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502756C>TCA9415840RYR1c.7835+29C>T (n.7835+29C>T)
c.7832+29C>T (n.7832+29C>T)
c.1287+29C>T
n.7918+29C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502756_38502757delCA9415838RYR1c.7835+29_7835+30del (n.7835+29_7835+30del)
c.7832+29_7832+30del (n.7832+29_7832+30del)
c.1287+29_1287+30del
n.7918+29_7918+30del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502756_38502757delinsCACA2335054514RYR1c.7835+29_7835+30delinsCA (n.7835+29_7835+30delinsCA)
c.7832+29_7832+30delinsCA (n.7832+29_7832+30delinsCA)
c.1287+29_1287+30delinsCA
n.7918+29_7918+30delinsCA
19g.38502760_38502761insACAGGGCA2584900668RYR1c.7835+33_7835+34insACAGGG (n.7835+33_7835+34insACAGGG)
c.7832+33_7832+34insACAGGG (n.7832+33_7832+34insACAGGG)
c.1287+33_1287+34insACAGGG
n.7918+33_7918+34insACAGGG
gnomAD v4
19g.38502756_38502762delCA882053973RYR1c.7835+29_7835+35del (n.7835+29_7835+35del)
c.7832+29_7832+35del (n.7832+29_7832+35del)
c.1287+29_1287+35del
n.7918+29_7918+35del
dbSNP gnomAD v4
19g.38502772_38502773insACAGGGGCAGGGGCAGGGCA633066222RYR1c.7835+45_7835+46insACAGGGGCAGGGGCAGGG (n.7835+45_7835+46insACAGGGGCAGGGGCAGGG)
c.7832+45_7832+46insACAGGGGCAGGGGCAGGG (n.7832+45_7832+46insACAGGGGCAGGGGCAGGG)
c.1287+45_1287+46insACAGGGGCAGGGGCAGGG
n.7918+45_7918+46insACAGGGGCAGGGGCAGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502772_38502773insTCAGGGGCAGGGGCAGGGCA2584900667RYR1c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG (n.7835+45_7835+46insTCAGGGGCAGGGGCAGGG)
c.7832+45_7832+46insTCAGGGGCAGGGGCAGGG (n.7832+45_7832+46insTCAGGGGCAGGGGCAGGG)
c.1287+45_1287+46insTCAGGGGCAGGGGCAGGG
n.7918+45_7918+46insTCAGGGGCAGGGGCAGGG
gnomAD v4
19g.38502756_38502814delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054512RYR1c.7835+29_7836-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+29_7836-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+29_7833-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+29_7833-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+29_1288-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+29_7919-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502756_38502816delCA995717592RYR1c.7835+29_7836-64del (n.7835+29_7836-64del)
c.7832+29_7833-64del (n.7832+29_7833-64del)
c.1287+29_1288-64del
n.7918+29_7919-64del
gnomAD v3 gnomAD v4
19g.38502757delCA9415842RYR1c.7835+30del (n.7835+30del)
c.7832+30del (n.7832+30del)
c.1287+30del
n.7918+30del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502757A=CA2335054515RYR1c.7835+30A= (n.7835+30A=)
c.7832+30A= (n.7832+30A=)
c.1287+30A=
n.7918+30A=
19g.38502757A>CCA2814347005RYR1c.7835+30A>C (n.7835+30A>C)
c.7832+30A>C (n.7832+30A>C)
c.1287+30A>C
n.7918+30A>C
19g.38502757A>GCA995717595RYR1c.7835+30A>G (n.7835+30A>G)
c.7832+30A>G (n.7832+30A>G)
c.1287+30A>G
n.7918+30A>G
gnomAD v3 gnomAD v4
19g.38502757A>TCA070452RYR1c.7835+30A>T (n.7835+30A>T)
c.7832+30A>T (n.7832+30A>T)
c.1287+30A>T
n.7918+30A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502757_38502761delinsAGGGGCA2335054516RYR1c.7835+30_7835+34delinsAGGGG (n.7835+30_7835+34delinsAGGGG)
c.7832+30_7832+34delinsAGGGG (n.7832+30_7832+34delinsAGGGG)
c.1287+30_1287+34delinsAGGGG
n.7918+30_7918+34delinsAGGGG
19g.38502761_38502762insTAGGGGCA995717597RYR1c.7835+34_7835+35insTAGGGG (n.7835+34_7835+35insTAGGGG)
c.7832+34_7832+35insTAGGGG (n.7832+34_7832+35insTAGGGG)
c.1287+34_1287+35insTAGGGG
n.7918+34_7918+35insTAGGGG
gnomAD v3 gnomAD v4
19g.38502757_38502764delCA995717612RYR1c.7835+30_7835+37del (n.7835+30_7835+37del)
c.7832+30_7832+37del (n.7832+30_7832+37del)
c.1287+30_1287+37del
n.7918+30_7918+37del
gnomAD v3 gnomAD v4
19g.38502767_38502768insAAGGGGCAGGGGCA2582145374RYR1c.7835+40_7835+41insAAGGGGCAGGGG (n.7835+40_7835+41insAAGGGGCAGGGG)
c.7832+40_7832+41insAAGGGGCAGGGG (n.7832+40_7832+41insAAGGGGCAGGGG)
c.1287+40_1287+41insAAGGGGCAGGGG
n.7918+40_7918+41insAAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502767_38502768insGAGGGGCAGGGGCA2584900670RYR1c.7835+40_7835+41insGAGGGGCAGGGG (n.7835+40_7835+41insGAGGGGCAGGGG)
c.7832+40_7832+41insGAGGGGCAGGGG (n.7832+40_7832+41insGAGGGGCAGGGG)
c.1287+40_1287+41insGAGGGGCAGGGG
n.7918+40_7918+41insGAGGGGCAGGGG
gnomAD v4
19g.38502757_38502773delCA2584900669RYR1c.7835+30_7835+46del (n.7835+30_7835+46del)
c.7832+30_7832+46del (n.7832+30_7832+46del)
c.1287+30_1287+46del
n.7918+30_7918+46del
gnomAD v4
19g.38502757_38502784delCA9415843RYR1c.7835+30_7835+57del (n.7835+30_7835+57del)
c.7832+30_7832+57del (n.7832+30_7832+57del)
c.1287+30_1287+57del
n.7918+30_7918+57del
ExAC
19g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA633066225RYR1c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v4
19g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717605RYR1c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA633066224RYR1c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v4
19g.38502757_38502814delCA9415841RYR1c.7835+30_7836-66del (n.7835+30_7836-66del)
c.7832+30_7833-66del (n.7832+30_7833-66del)
c.1287+30_1288-66del
n.7918+30_7919-66del
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502758G>ACA9415848RYR1c.7835+31G>A (n.7835+31G>A)
c.7832+31G>A (n.7832+31G>A)
c.1287+31G>A
n.7918+31G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502758G>CCA9415845RYR1c.7835+31G>C (n.7835+31G>C)
c.7832+31G>C (n.7832+31G>C)
c.1287+31G>C
n.7918+31G>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502758G=CA2335054517RYR1c.7835+31G= (n.7835+31G=)
c.7832+31G= (n.7832+31G=)
c.1287+31G=
n.7918+31G=
19g.38502758G>TCA9415849RYR1c.7835+31G>T (n.7835+31G>T)
c.7832+31G>T (n.7832+31G>T)
c.1287+31G>T
n.7918+31G>T
ExAC
19g.38502759_38502760insCTTCAGGGTGGCA633066226RYR1c.7835+32_7835+33insCTTCAGGGTGG (n.7835+32_7835+33insCTTCAGGGTGG)
c.7832+32_7832+33insCTTCAGGGTGG (n.7832+32_7832+33insCTTCAGGGTGG)
c.1287+32_1287+33insCTTCAGGGTGG
n.7918+32_7918+33insCTTCAGGGTGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502758_38502761delCA995717621RYR1c.7835+31_7835+34del (n.7835+31_7835+34del)
c.7832+31_7832+34del (n.7832+31_7832+34del)
c.1287+31_1287+34del
n.7918+31_7918+34del
dbSNP gnomAD v3 gnomAD v4
19g.38502760_38502761delCA2547390296RYR1c.7835+33_7835+34del (n.7835+33_7835+34del)
c.7832+33_7832+34del (n.7832+33_7832+34del)
c.1287+33_1287+34del
n.7918+33_7918+34del
gnomAD v4
19g.38502759_38502761delCA2814347011RYR1c.7835+32_7835+34del (n.7835+32_7835+34del)
c.7832+32_7832+34del (n.7832+32_7832+34del)
c.1287+32_1287+34del
n.7918+32_7918+34del
19g.38502758_38502762delinsGGGGCCA2335054518RYR1c.7835+31_7835+35delinsGGGGC (n.7835+31_7835+35delinsGGGGC)
c.7832+31_7832+35delinsGGGGC (n.7832+31_7832+35delinsGGGGC)
c.1287+31_1287+35delinsGGGGC
n.7918+31_7918+35delinsGGGGC
19g.38502765_38502766insCTTCAGGGTGGGGCAGGCA995717619RYR1c.7835+38_7835+39insCTTCAGGGTGGGGCAGG (n.7835+38_7835+39insCTTCAGGGTGGGGCAGG)
c.7832+38_7832+39insCTTCAGGGTGGGGCAGG (n.7832+38_7832+39insCTTCAGGGTGGGGCAGG)
c.1287+38_1287+39insCTTCAGGGTGGGGCAGG
n.7918+38_7918+39insCTTCAGGGTGGGGCAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502759_38502767delCA2584900671RYR1c.7835+32_7835+40del (n.7835+32_7835+40del)
c.7832+32_7832+40del (n.7832+32_7832+40del)
c.1287+32_1287+40del
n.7918+32_7918+40del
gnomAD v4
19g.38502768_38502769insCGGGGCAGGGGCCA2814347012RYR1c.7835+41_7835+42insCGGGGCAGGGGC (n.7835+41_7835+42insCGGGGCAGGGGC)
c.7832+41_7832+42insCGGGGCAGGGGC (n.7832+41_7832+42insCGGGGCAGGGGC)
c.1287+41_1287+42insCGGGGCAGGGGC
n.7918+41_7918+42insCGGGGCAGGGGC
19g.38502774_38502775insGGGGGCAGGGGCAGGGGCCA9415844RYR1c.7835+47_7835+48insGGGGGCAGGGGCAGGGGC (n.7835+47_7835+48insGGGGGCAGGGGCAGGGGC)
c.7832+47_7832+48insGGGGGCAGGGGCAGGGGC (n.7832+47_7832+48insGGGGGCAGGGGCAGGGGC)
c.1287+47_1287+48insGGGGGCAGGGGCAGGGGC
n.7918+47_7918+48insGGGGGCAGGGGCAGGGGC
dbSNP ExAC
19g.38502783_38502784insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGCA2584900672RYR1c.7835+56_7835+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+56_7835+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+56_7832+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+56_7832+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+56_1287+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+56_7918+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502759G>ACA070456RYR1c.7835+32G>A (n.7835+32G>A)
c.7832+32G>A (n.7832+32G>A)
c.1287+32G>A
n.7918+32G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502759G>CCA882053982RYR1c.7835+32G>C (n.7835+32G>C)
c.7832+32G>C (n.7832+32G>C)
c.1287+32G>C
n.7918+32G>C
dbSNP gnomAD v4
19g.38502759G=CA2335054520RYR1c.7835+32G= (n.7835+32G=)
c.7832+32G= (n.7832+32G=)
c.1287+32G=
n.7918+32G=
19g.38502759G>TCA070459RYR1c.7835+32G>T (n.7835+32G>T)
c.7832+32G>T (n.7832+32G>T)
c.1287+32G>T
n.7918+32G>T
dbSNP ExAC gnomAD v4
19g.38502759_38502762delCA9415846RYR1c.7835+32_7835+35del (n.7835+32_7835+35del)
c.7832+32_7832+35del (n.7832+32_7832+35del)
c.1287+32_1287+35del
n.7918+32_7918+35del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502759_38502762delinsGGGCCA2335054519RYR1c.7835+32_7835+35delinsGGGC (n.7835+32_7835+35delinsGGGC)
c.7832+32_7832+35delinsGGGC (n.7832+32_7832+35delinsGGGC)
c.1287+32_1287+35delinsGGGC
n.7918+32_7918+35delinsGGGC
19g.38502763_38502764insCGGGCACA633066227RYR1c.7835+36_7835+37insCGGGCA (n.7835+36_7835+37insCGGGCA)
c.7832+36_7832+37insCGGGCA (n.7832+36_7832+37insCGGGCA)
c.1287+36_1287+37insCGGGCA
n.7918+36_7918+37insCGGGCA
dbSNP gnomAD v2 gnomAD v4
19g.38502769_38502770insAGGGCAGGGGCACA2510023416RYR1c.7835+42_7835+43insAGGGCAGGGGCA (n.7835+42_7835+43insAGGGCAGGGGCA)
c.7832+42_7832+43insAGGGCAGGGGCA (n.7832+42_7832+43insAGGGCAGGGGCA)
c.1287+42_1287+43insAGGGCAGGGGCA
n.7918+42_7918+43insAGGGCAGGGGCA
19g.38502775_38502776insAGGGCAGGGGCAGGGGCACA995717624RYR1c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA (n.7835+48_7835+49insAGGGCAGGGGCAGGGGCA)
c.7832+48_7832+49insAGGGCAGGGGCAGGGGCA (n.7832+48_7832+49insAGGGCAGGGGCAGGGGCA)
c.1287+48_1287+49insAGGGCAGGGGCAGGGGCA
n.7918+48_7918+49insAGGGCAGGGGCAGGGGCA
dbSNP gnomAD v3 gnomAD v4
19g.38502759_38502816delCA9415847RYR1c.7835+32_7836-64del (n.7835+32_7836-64del)
c.7832+32_7833-64del (n.7832+32_7833-64del)
c.1287+32_1288-64del
n.7918+32_7919-64del
ExAC
19g.38502759_38502760insCTTCACA9415851RYR1c.7835+32_7835+33insCTTCA (n.7835+32_7835+33insCTTCA)
c.7832+32_7832+33insCTTCA (n.7832+32_7832+33insCTTCA)
c.1287+32_1287+33insCTTCA
n.7918+32_7918+33insCTTCA
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502759_38502760insCTTCAGGGTCA2584900673RYR1c.7835+32_7835+33insCTTCAGGGT (n.7835+32_7835+33insCTTCAGGGT)
c.7832+32_7832+33insCTTCAGGGT (n.7832+32_7832+33insCTTCAGGGT)
c.1287+32_1287+33insCTTCAGGGT
n.7918+32_7918+33insCTTCAGGGT
gnomAD v4
19g.38502760G>ACA633066228RYR1c.7835+33G>A (n.7835+33G>A)
c.7832+33G>A (n.7832+33G>A)
c.1287+33G>A
n.7918+33G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502760G>CCA2584900675RYR1c.7835+33G>C (n.7835+33G>C)
c.7832+33G>C (n.7832+33G>C)
c.1287+33G>C
n.7918+33G>C
gnomAD v4
19g.38502760G=CA2335054521RYR1c.7835+33G= (n.7835+33G=)
c.7832+33G= (n.7832+33G=)
c.1287+33G=
n.7918+33G=
19g.38502760G>TCA2584900674RYR1c.7835+33G>T (n.7835+33G>T)
c.7832+33G>T (n.7832+33G>T)
c.1287+33G>T
n.7918+33G>T
gnomAD v4
19g.38502760_38502762delCA995717629RYR1c.7835+33_7835+35del (n.7835+33_7835+35del)
c.7832+33_7832+35del (n.7832+33_7832+35del)
c.1287+33_1287+35del
n.7918+33_7918+35del
dbSNP gnomAD v3 gnomAD v4
19g.38502760_38502762delinsGGCCA2335054523RYR1c.7835+33_7835+35delinsGGC (n.7835+33_7835+35delinsGGC)
c.7832+33_7832+35delinsGGC (n.7832+33_7832+35delinsGGC)
c.1287+33_1287+35delinsGGC
n.7918+33_7918+35delinsGGC
19g.38502764_38502765insAGGCAGCA9415850RYR1c.7835+37_7835+38insAGGCAG (n.7835+37_7835+38insAGGCAG)
c.7832+37_7832+38insAGGCAG (n.7832+37_7832+38insAGGCAG)
c.1287+37_1287+38insAGGCAG
n.7918+37_7918+38insAGGCAG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502770_38502771insAGGCAGGGGCAGCA2584900677RYR1c.7835+43_7835+44insAGGCAGGGGCAG (n.7835+43_7835+44insAGGCAGGGGCAG)
c.7832+43_7832+44insAGGCAGGGGCAG (n.7832+43_7832+44insAGGCAGGGGCAG)
c.1287+43_1287+44insAGGCAGGGGCAG
n.7918+43_7918+44insAGGCAGGGGCAG
gnomAD v4
19g.38502776_38502777insAGGCAGGGGCAGGGGCAGCA2584900676RYR1c.7835+49_7835+50insAGGCAGGGGCAGGGGCAG (n.7835+49_7835+50insAGGCAGGGGCAGGGGCAG)
c.7832+49_7832+50insAGGCAGGGGCAGGGGCAG (n.7832+49_7832+50insAGGCAGGGGCAGGGGCAG)
c.1287+49_1287+50insAGGCAGGGGCAGGGGCAG
n.7918+49_7918+50insAGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502776_38502777insCGGCAGGGGCAGGGGCAGCA920105567RYR1c.7835+49_7835+50insCGGCAGGGGCAGGGGCAG (n.7835+49_7835+50insCGGCAGGGGCAGGGGCAG)
c.7832+49_7832+50insCGGCAGGGGCAGGGGCAG (n.7832+49_7832+50insCGGCAGGGGCAGGGGCAG)
c.1287+49_1287+50insCGGCAGGGGCAGGGGCAG
n.7918+49_7918+50insCGGCAGGGGCAGGGGCAG
dbSNP
19g.38502760_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054522RYR1c.7835+33_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+33_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+33_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+33_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+33_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+33_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502761G>ACA9415853RYR1c.7835+34G>A (n.7835+34G>A)
c.7832+34G>A (n.7832+34G>A)
c.1287+34G>A
n.7918+34G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502761G>CCA633066232RYR1c.7835+34G>C (n.7835+34G>C)
c.7832+34G>C (n.7832+34G>C)
c.1287+34G>C
n.7918+34G>C
dbSNP gnomAD v2 gnomAD v4
19g.38502761G=CA2335054524RYR1c.7835+34G= (n.7835+34G=)
c.7832+34G= (n.7832+34G=)
c.1287+34G=
n.7918+34G=
19g.38502761_38502762delCA633066230RYR1c.7835+34_7835+35del (n.7835+34_7835+35del)
c.7832+34_7832+35del (n.7832+34_7832+35del)
c.1287+34_1287+35del
n.7918+34_7918+35del
dbSNP gnomAD v2 gnomAD v4
19g.38502761_38502763delinsGCACA2335054526RYR1c.7835+34_7835+36delinsGCA (n.7835+34_7835+36delinsGCA)
c.7832+34_7832+36delinsGCA (n.7832+34_7832+36delinsGCA)
c.1287+34_1287+36delinsGCA
n.7918+34_7918+36delinsGCA
19g.38502765_38502766insAGCAGGCA633066231RYR1c.7835+38_7835+39insAGCAGG (n.7835+38_7835+39insAGCAGG)
c.7832+38_7832+39insAGCAGG (n.7832+38_7832+39insAGCAGG)
c.1287+38_1287+39insAGCAGG
n.7918+38_7918+39insAGCAGG
dbSNP gnomAD v2 gnomAD v4
19g.38502761_38502768delCA2584900678RYR1c.7835+34_7835+41del (n.7835+34_7835+41del)
c.7832+34_7832+41del (n.7832+34_7832+41del)
c.1287+34_1287+41del
n.7918+34_7918+41del
gnomAD v4
19g.38502771_38502772insAGCAGGGGCAGGCA633066229RYR1c.7835+44_7835+45insAGCAGGGGCAGG (n.7835+44_7835+45insAGCAGGGGCAGG)
c.7832+44_7832+45insAGCAGGGGCAGG (n.7832+44_7832+45insAGCAGGGGCAGG)
c.1287+44_1287+45insAGCAGGGGCAGG
n.7918+44_7918+45insAGCAGGGGCAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502761_38502798delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA2335054525RYR1c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1287+34_1287+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7918+34_7918+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
19g.38502777_38502830delCA9415852RYR1c.7835+50_7836-50del (n.7835+50_7836-50del)
c.7832+50_7833-50del (n.7832+50_7833-50del)
c.1287+50_1288-50del
n.7918+50_7919-50del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502762C>ACA2584900679RYR1c.7835+35C>A (n.7835+35C>A)
c.7832+35C>A (n.7832+35C>A)
c.1287+35C>A
n.7918+35C>A
gnomAD v4
19g.38502762C=CA2335054527RYR1c.7835+35C= (n.7835+35C=)
c.7832+35C= (n.7832+35C=)
c.1287+35C=
n.7918+35C=
19g.38502762C>GCA9415857RYR1c.7835+35C>G (n.7835+35C>G)
c.7832+35C>G (n.7832+35C>G)
c.1287+35C>G
n.7918+35C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502762C>TCA633066233RYR1c.7835+35C>T (n.7835+35C>T)
c.7832+35C>T (n.7832+35C>T)
c.1287+35C>T
n.7918+35C>T
dbSNP gnomAD v2 gnomAD v4
19g.38502762_38502763insTTCCA2584900680RYR1c.7835+35_7835+36insTTC (n.7835+35_7835+36insTTC)
c.7832+35_7832+36insTTC (n.7832+35_7832+36insTTC)
c.1287+35_1287+36insTTC
n.7918+35_7918+36insTTC
gnomAD v4
19g.38502762_38502763delCA9415854RYR1c.7835+35_7835+36del (n.7835+35_7835+36del)
c.7832+35_7832+36del (n.7832+35_7832+36del)
c.1287+35_1287+36del
n.7918+35_7918+36del
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502766_38502767insACAGGGCA633066234RYR1c.7835+39_7835+40insACAGGG (n.7835+39_7835+40insACAGGG)
c.7832+39_7832+40insACAGGG (n.7832+39_7832+40insACAGGG)
c.1287+39_1287+40insACAGGG
n.7918+39_7918+40insACAGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502772_38502773insACAGGGGCAGGGCA2584900681RYR1c.7835+45_7835+46insACAGGGGCAGGG (n.7835+45_7835+46insACAGGGGCAGGG)
c.7832+45_7832+46insACAGGGGCAGGG (n.7832+45_7832+46insACAGGGGCAGGG)
c.1287+45_1287+46insACAGGGGCAGGG
n.7918+45_7918+46insACAGGGGCAGGG
gnomAD v4
19g.38502762_38502798delCA9415855RYR1c.7835+35_7835+71del (n.7835+35_7835+71del)
c.7832+35_7832+71del (n.7832+35_7832+71del)
c.1287+35_1287+71del
n.7918+35_7918+71del
dbSNP ExAC
19g.38502762_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054528RYR1c.7835+35_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+35_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+35_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+35_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+35_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+35_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502763A=CA2335054531RYR1c.7835+36A= (n.7835+36A=)
c.7832+36A= (n.7832+36A=)
c.1287+36A=
n.7918+36A=
19g.38502763A>CCA995717650RYR1c.7835+36A>C (n.7835+36A>C)
c.7832+36A>C (n.7832+36A>C)
c.1287+36A>C
n.7918+36A>C
gnomAD v3 gnomAD v4
19g.38502763A>TCA9415858RYR1c.7835+36A>T (n.7835+36A>T)
c.7832+36A>T (n.7832+36A>T)
c.1287+36A>T
n.7918+36A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502763_38502765delinsAGGCA2335054530RYR1c.7835+36_7835+38delinsAGG (n.7835+36_7835+38delinsAGG)
c.7832+36_7832+38delinsAGG (n.7832+36_7832+38delinsAGG)
c.1287+36_1287+38delinsAGG
n.7918+36_7918+38delinsAGG
19g.38502763_38502767delinsAGGGGCA2335054529RYR1c.7835+36_7835+40delinsAGGGG (n.7835+36_7835+40delinsAGGGG)
c.7832+36_7832+40delinsAGGGG (n.7832+36_7832+40delinsAGGGG)
c.1287+36_1287+40delinsAGGGG
n.7918+36_7918+40delinsAGGGG
19g.38502763_38502772delinsAGGGGCAGGGCA2335054533RYR1c.7835+36_7835+45delinsAGGGGCAGGG (n.7835+36_7835+45delinsAGGGGCAGGG)
c.7832+36_7832+45delinsAGGGGCAGGG (n.7832+36_7832+45delinsAGGGGCAGGG)
c.1287+36_1287+45delinsAGGGGCAGGG
n.7918+36_7918+45delinsAGGGGCAGGG
19g.38502763_38502773delinsAGGGGCAGGGGCA2335054532RYR1c.7835+36_7835+46delinsAGGGGCAGGGG (n.7835+36_7835+46delinsAGGGGCAGGGG)
c.7832+36_7832+46delinsAGGGGCAGGGG (n.7832+36_7832+46delinsAGGGGCAGGGG)
c.1287+36_1287+46delinsAGGGGCAGGGG
n.7918+36_7918+46delinsAGGGGCAGGGG
19g.38502773_38502774insTAGGGGCAGGGGCA2584900682RYR1c.7835+46_7835+47insTAGGGGCAGGGG (n.7835+46_7835+47insTAGGGGCAGGGG)
c.7832+46_7832+47insTAGGGGCAGGGG (n.7832+46_7832+47insTAGGGGCAGGGG)
c.1287+46_1287+47insTAGGGGCAGGGG
n.7918+46_7918+47insTAGGGGCAGGGG
gnomAD v4
19g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA633066235RYR1c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900683RYR1c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502803_38502804insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717647RYR1c.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717646RYR1c.7836-71_7836-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502766_38502813delCA9415856RYR1c.7835+39_7836-67del (n.7835+39_7836-67del)
c.7832+39_7833-67del (n.7832+39_7833-67del)
c.1287+39_1288-67del
n.7918+39_7919-67del
dbSNP ExAC
19g.38502764G>ACA882054013RYR1c.7835+37G>A (n.7835+37G>A)
c.7832+37G>A (n.7832+37G>A)
c.1287+37G>A
n.7918+37G>A
dbSNP gnomAD v4
19g.38502764G>CCA633066238RYR1c.7835+37G>C (n.7835+37G>C)
c.7832+37G>C (n.7832+37G>C)
c.1287+37G>C
n.7918+37G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502764G=CA2335054534RYR1c.7835+37G= (n.7835+37G=)
c.7832+37G= (n.7832+37G=)
c.1287+37G=
n.7918+37G=
19g.38502765_38502766insCTTCAGGGTGGCA2584900684RYR1c.7835+38_7835+39insCTTCAGGGTGG (n.7835+38_7835+39insCTTCAGGGTGG)
c.7832+38_7832+39insCTTCAGGGTGG (n.7832+38_7832+39insCTTCAGGGTGG)
c.1287+38_1287+39insCTTCAGGGTGG
n.7918+38_7918+39insCTTCAGGGTGG
gnomAD v4
19g.38502764_38502767delCA995717690RYR1c.7835+37_7835+40del (n.7835+37_7835+40del)
c.7832+37_7832+40del (n.7832+37_7832+40del)
c.1287+37_1287+40del
n.7918+37_7918+40del
dbSNP gnomAD v3 gnomAD v4
19g.38502767dupCA2335054539RYR1c.7835+40dup (n.7835+40dup)
c.7832+40dup (n.7832+40dup)
c.1287+40dup
n.7918+40dup
dbSNP
19g.38502766_38502767delCA995717688RYR1c.7835+39_7835+40del (n.7835+39_7835+40del)
c.7832+39_7832+40del (n.7832+39_7832+40del)
c.1287+39_1287+40del
n.7918+39_7918+40del
dbSNP gnomAD v3 gnomAD v4
19g.38502765_38502767delCA2584900686RYR1c.7835+38_7835+40del (n.7835+38_7835+40del)
c.7832+38_7832+40del (n.7832+38_7832+40del)
c.1287+38_1287+40del
n.7918+38_7918+40del
gnomAD v4
19g.38502764_38502768delinsGGGGCCA2335054536RYR1c.7835+37_7835+41delinsGGGGC (n.7835+37_7835+41delinsGGGGC)
c.7832+37_7832+41delinsGGGGC (n.7832+37_7832+41delinsGGGGC)
c.1287+37_1287+41delinsGGGGC
n.7918+37_7918+41delinsGGGGC
19g.38502768_38502769insCGGGGCCA2814347015RYR1c.7835+41_7835+42insCGGGGC (n.7835+41_7835+42insCGGGGC)
c.7832+41_7832+42insCGGGGC (n.7832+41_7832+42insCGGGGC)
c.1287+41_1287+42insCGGGGC
n.7918+41_7918+42insCGGGGC
19g.38502768_38502769insGGGGGCCA995717686RYR1c.7835+41_7835+42insGGGGGC (n.7835+41_7835+42insGGGGGC)
c.7832+41_7832+42insGGGGGC (n.7832+41_7832+42insGGGGGC)
c.1287+41_1287+42insGGGGGC
n.7918+41_7918+42insGGGGGC
dbSNP gnomAD v3 gnomAD v4
19g.38502764_38502769delinsGGGGCACA2335054535RYR1c.7835+37_7835+42delinsGGGGCA (n.7835+37_7835+42delinsGGGGCA)
c.7832+37_7832+42delinsGGGGCA (n.7832+37_7832+42delinsGGGGCA)
c.1287+37_1287+42delinsGGGGCA
n.7918+37_7918+42delinsGGGGCA
19g.38502764_38502773delCA633066236RYR1c.7835+37_7835+46del (n.7835+37_7835+46del)
c.7832+37_7832+46del (n.7832+37_7832+46del)
c.1287+37_1287+46del
n.7918+37_7918+46del
dbSNP gnomAD v2 gnomAD v4
19g.38502766_38502773delCA9415859RYR1c.7835+39_7835+46del (n.7835+39_7835+46del)
c.7832+39_7832+46del (n.7832+39_7832+46del)
c.1287+39_1287+46del
n.7918+39_7918+46del
dbSNP ExAC gnomAD v4
19g.38502765_38502773delCA995717691RYR1c.7835+38_7835+46del (n.7835+38_7835+46del)
c.7832+38_7832+46del (n.7832+38_7832+46del)
c.1287+38_1287+46del
n.7918+38_7918+46del
dbSNP gnomAD v3 gnomAD v4
19g.38502764_38502775delinsGGGGCAGGGGCACA2335054537RYR1c.7835+37_7835+48delinsGGGGCAGGGGCA (n.7835+37_7835+48delinsGGGGCAGGGGCA)
c.7832+37_7832+48delinsGGGGCAGGGGCA (n.7832+37_7832+48delinsGGGGCAGGGGCA)
c.1287+37_1287+48delinsGGGGCAGGGGCA
n.7918+37_7918+48delinsGGGGCAGGGGCA
19g.38502766_38502779delCA2582145375RYR1c.7835+39_7835+52del (n.7835+39_7835+52del)
c.7832+39_7832+52del (n.7832+39_7832+52del)
c.1287+39_1287+52del
n.7918+39_7918+52del
dbSNP gnomAD v3 gnomAD v4
19g.38502765_38502779delCA2584900685RYR1c.7835+38_7835+52del (n.7835+38_7835+52del)
c.7832+38_7832+52del (n.7832+38_7832+52del)
c.1287+38_1287+52del
n.7918+38_7918+52del
gnomAD v4
19g.38502789_38502790insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGCA633066237RYR1c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+62_1287+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+62_7918+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502764_38502804delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCCA2335054538RYR1c.7835+37_7836-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7835+37_7836-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.7832+37_7833-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7832+37_7833-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC)
c.1287+37_1288-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
n.7918+37_7919-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
19g.38502764_38502765insCAGAGCCA2584900687RYR1c.7835+37_7835+38insCAGAGC (n.7835+37_7835+38insCAGAGC)
c.7832+37_7832+38insCAGAGC (n.7832+37_7832+38insCAGAGC)
c.1287+37_1287+38insCAGAGC
n.7918+37_7918+38insCAGAGC
gnomAD v4
19g.38502765G>ACA9415864RYR1c.7835+38G>A (n.7835+38G>A)
c.7832+38G>A (n.7832+38G>A)
c.1287+38G>A
n.7918+38G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502765G=CA2335054540RYR1c.7835+38G= (n.7835+38G=)
c.7832+38G= (n.7832+38G=)
c.1287+38G=
n.7918+38G=
19g.38502765G>TCA995717697RYR1c.7835+38G>T (n.7835+38G>T)
c.7832+38G>T (n.7832+38G>T)
c.1287+38G>T
n.7918+38G>T
gnomAD v3 gnomAD v4
19g.38502765_38502768delCA9415860RYR1c.7835+38_7835+41del (n.7835+38_7835+41del)
c.7832+38_7832+41del (n.7832+38_7832+41del)
c.1287+38_1287+41del
n.7918+38_7918+41del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502765_38502768delinsGGGCCA2335054541RYR1c.7835+38_7835+41delinsGGGC (n.7835+38_7835+41delinsGGGC)
c.7832+38_7832+41delinsGGGC (n.7832+38_7832+41delinsGGGC)
c.1287+38_1287+41delinsGGGC
n.7918+38_7918+41delinsGGGC
19g.38502769_38502770insAGGGCACA633066239RYR1c.7835+42_7835+43insAGGGCA (n.7835+42_7835+43insAGGGCA)
c.7832+42_7832+43insAGGGCA (n.7832+42_7832+43insAGGGCA)
c.1287+42_1287+43insAGGGCA
n.7918+42_7918+43insAGGGCA
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502769_38502770insCGGGCACA2576771116RYR1c.7835+42_7835+43insCGGGCA (n.7835+42_7835+43insCGGGCA)
c.7832+42_7832+43insCGGGCA (n.7832+42_7832+43insCGGGCA)
c.1287+42_1287+43insCGGGCA
n.7918+42_7918+43insCGGGCA
19g.38502768_38502772dupCA2584900691RYR1c.7835+41_7835+45dup (n.7835+41_7835+45dup)
c.7832+41_7832+45dup (n.7832+41_7832+45dup)
c.1287+41_1287+45dup
n.7918+41_7918+45dup
gnomAD v4
19g.38502768_38502772delCA9415863RYR1c.7835+41_7835+45del (n.7835+41_7835+45del)
c.7832+41_7832+45del (n.7832+41_7832+45del)
c.1287+41_1287+45del
n.7918+41_7918+45del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502768_38502778delCA9415862RYR1c.7835+41_7835+51del (n.7835+41_7835+51del)
c.7832+41_7832+51del (n.7832+41_7832+51del)
c.1287+41_1287+51del
n.7918+41_7918+51del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502765_38502780delCA2584900689RYR1c.7835+38_7835+53del (n.7835+38_7835+53del)
c.7832+38_7832+53del (n.7832+38_7832+53del)
c.1287+38_1287+53del
n.7918+38_7918+53del
gnomAD v4
19g.38502765_38502792delCA2584900688RYR1c.7835+38_7835+65del (n.7835+38_7835+65del)
c.7832+38_7832+65del (n.7832+38_7832+65del)
c.1287+38_1287+65del
n.7918+38_7918+65del
gnomAD v4
19g.38502799_38502800insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCACA2584900690RYR1c.7835+72_7835+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7835+72_7835+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA)
c.7832+72_7832+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7832+72_7832+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA)
c.1287+72_1287+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
n.7918+72_7918+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
gnomAD v4
19g.38502765_38502804delCA9415861RYR1c.7835+38_7836-76del (n.7835+38_7836-76del)
c.7832+38_7833-76del (n.7832+38_7833-76del)
c.1287+38_1288-76del
n.7918+38_7919-76del
dbSNP ExAC gnomAD v4
19g.38502765_38502816delCA995717699RYR1c.7835+38_7836-64del (n.7835+38_7836-64del)
c.7832+38_7833-64del (n.7832+38_7833-64del)
c.1287+38_1288-64del
n.7918+38_7919-64del
gnomAD v3 gnomAD v4
19g.38502765_38502766insTCA2576771117RYR1c.7835+38_7835+39insT (n.7835+38_7835+39insT)
c.7832+38_7832+39insT (n.7832+38_7832+39insT)
c.1287+38_1287+39insT
n.7918+38_7918+39insT
19g.38502765_38502766insCTTCACA9415866RYR1c.7835+38_7835+39insCTTCA (n.7835+38_7835+39insCTTCA)
c.7832+38_7832+39insCTTCA (n.7832+38_7832+39insCTTCA)
c.1287+38_1287+39insCTTCA
n.7918+38_7918+39insCTTCA
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502766G>ACA9415869RYR1c.7835+39G>A (n.7835+39G>A)
c.7832+39G>A (n.7832+39G>A)
c.1287+39G>A
n.7918+39G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502766G=CA2335054542RYR1c.7835+39G= (n.7835+39G=)
c.7832+39G= (n.7832+39G=)
c.1287+39G=
n.7918+39G=
19g.38502766G>TCA995717714RYR1c.7835+39G>T (n.7835+39G>T)
c.7832+39G>T (n.7832+39G>T)
c.1287+39G>T
n.7918+39G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502766_38502768delCA9415865RYR1c.7835+39_7835+41del (n.7835+39_7835+41del)
c.7832+39_7832+41del (n.7832+39_7832+41del)
c.1287+39_1287+41del
n.7918+39_7918+41del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502770_38502771insAGGCAGCA995717706RYR1c.7835+43_7835+44insAGGCAG (n.7835+43_7835+44insAGGCAG)
c.7832+43_7832+44insAGGCAG (n.7832+43_7832+44insAGGCAG)
c.1287+43_1287+44insAGGCAG
n.7918+43_7918+44insAGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502770_38502771insCGGCAGCA9415867RYR1c.7835+43_7835+44insCGGCAG (n.7835+43_7835+44insCGGCAG)
c.7832+43_7832+44insCGGCAG (n.7832+43_7832+44insCGGCAG)
c.1287+43_1287+44insCGGCAG
n.7918+43_7918+44insCGGCAG
dbSNP ExAC
19g.38502770_38502771insCAGAGGCAGCA2814347021RYR1c.7835+43_7835+44insCAGAGGCAG (n.7835+43_7835+44insCAGAGGCAG)
c.7832+43_7832+44insCAGAGGCAG (n.7832+43_7832+44insCAGAGGCAG)
c.1287+43_1287+44insCAGAGGCAG
n.7918+43_7918+44insCAGAGGCAG
19g.38502782_38502783insAGGCAGGGGCAGGGGCAGCA2584900693RYR1c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG (n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG)
c.7832+55_7832+56insAGGCAGGGGCAGGGGCAG (n.7832+55_7832+56insAGGCAGGGGCAGGGGCAG)
c.1287+55_1287+56insAGGCAGGGGCAGGGGCAG
n.7918+55_7918+56insAGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502782_38502783insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAGCA2814347023RYR1c.7835+55_7835+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG (n.7835+55_7835+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG)
c.7832+55_7832+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG (n.7832+55_7832+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG)
c.1287+55_1287+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG
n.7918+55_7918+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG
19g.38502788_38502789insCGGCAGGGGCAGGGGCAGGGGCAGCA2584900692RYR1c.7835+61_7835+62insCGGCAGGGGCAGGGGCAGGGGCAG (n.7835+61_7835+62insCGGCAGGGGCAGGGGCAGGGGCAG)
c.7832+61_7832+62insCGGCAGGGGCAGGGGCAGGGGCAG (n.7832+61_7832+62insCGGCAGGGGCAGGGGCAGGGGCAG)
c.1287+61_1287+62insCGGCAGGGGCAGGGGCAGGGGCAG
n.7918+61_7918+62insCGGCAGGGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502806_38502807insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGCA995717710RYR1c.7836-74_7836-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7836-74_7836-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.7833-74_7833-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7833-74_7833-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG)
c.1288-74_1288-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
n.7919-74_7919-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502766_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054543RYR1c.7835+39_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+39_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+39_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+39_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+39_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+39_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502767G>ACA995717719RYR1c.7835+40G>A (n.7835+40G>A)
c.7832+40G>A (n.7832+40G>A)
c.1287+40G>A
n.7918+40G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502767G=CA2335054545RYR1c.7835+40G= (n.7835+40G=)
c.7832+40G= (n.7832+40G=)
c.1287+40G=
n.7918+40G=
19g.38502767G>TCA2584900694RYR1c.7835+40G>T (n.7835+40G>T)
c.7832+40G>T (n.7832+40G>T)
c.1287+40G>T
n.7918+40G>T
gnomAD v4
19g.38502767_38502768delCA2584900695RYR1c.7835+40_7835+41del (n.7835+40_7835+41del)
c.7832+40_7832+41del (n.7832+40_7832+41del)
c.1287+40_1287+41del
n.7918+40_7918+41del
gnomAD v4
19g.38502767_38502769delinsGCACA2335054544RYR1c.7835+40_7835+42delinsGCA (n.7835+40_7835+42delinsGCA)
c.7832+40_7832+42delinsGCA (n.7832+40_7832+42delinsGCA)
c.1287+40_1287+42delinsGCA
n.7918+40_7918+42delinsGCA
19g.38502771_38502772insAGCAGGCA633066240RYR1c.7835+44_7835+45insAGCAGG (n.7835+44_7835+45insAGCAGG)
c.7832+44_7832+45insAGCAGG (n.7832+44_7832+45insAGCAGG)
c.1287+44_1287+45insAGCAGG
n.7918+44_7918+45insAGCAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502795_38502796insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGCA2584900696RYR1c.7835+68_7835+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+68_7835+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.7832+68_7832+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+68_7832+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG)
c.1287+68_1287+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG
n.7918+68_7918+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG
gnomAD v4
19g.38502783_38502830delCA9415868RYR1c.7835+56_7836-50del (n.7835+56_7836-50del)
c.7832+56_7833-50del (n.7832+56_7833-50del)
c.1287+56_1288-50del
n.7918+56_7919-50del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502768C>ACA995717724RYR1c.7835+41C>A (n.7835+41C>A)
c.7832+41C>A (n.7832+41C>A)
c.1287+41C>A
n.7918+41C>A
gnomAD v3 gnomAD v4
19g.38502768C=CA2335054546RYR1c.7835+41C= (n.7835+41C=)
c.7832+41C= (n.7832+41C=)
c.1287+41C=
n.7918+41C=
19g.38502768C>GCA9415872RYR1c.7835+41C>G (n.7835+41C>G)
c.7832+41C>G (n.7832+41C>G)
c.1287+41C>G
n.7918+41C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502768C>TCA633066241RYR1c.7835+41C>T (n.7835+41C>T)
c.7832+41C>T (n.7832+41C>T)
c.1287+41C>T
n.7918+41C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502768_38502769delCA070499RYR1c.7835+41_7835+42del (n.7835+41_7835+42del)
c.7832+41_7832+42del (n.7832+41_7832+42del)
c.1287+41_1287+42del
n.7918+41_7918+42del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502768_38502769delinsCACA2335054548RYR1c.7835+41_7835+42delinsCA (n.7835+41_7835+42delinsCA)
c.7832+41_7832+42delinsCA (n.7832+41_7832+42delinsCA)
c.1287+41_1287+42delinsCA
n.7918+41_7918+42delinsCA
19g.38502772_38502773insACAGGGCA2584900697RYR1c.7835+45_7835+46insACAGGG (n.7835+45_7835+46insACAGGG)
c.7832+45_7832+46insACAGGG (n.7832+45_7832+46insACAGGG)
c.1287+45_1287+46insACAGGG
n.7918+45_7918+46insACAGGG
gnomAD v4
19g.38502768_38502776delinsCAGGGGCAGCA2335054547RYR1c.7835+41_7835+49delinsCAGGGGCAG (n.7835+41_7835+49delinsCAGGGGCAG)
c.7832+41_7832+49delinsCAGGGGCAG (n.7832+41_7832+49delinsCAGGGGCAG)
c.1287+41_1287+49delinsCAGGGGCAG
n.7918+41_7918+49delinsCAGGGGCAG
19g.38502778_38502779insTCAGGGGCAGGGCA2584900699RYR1c.7835+51_7835+52insTCAGGGGCAGGG (n.7835+51_7835+52insTCAGGGGCAGGG)
c.7832+51_7832+52insTCAGGGGCAGGG (n.7832+51_7832+52insTCAGGGGCAGGG)
c.1287+51_1287+52insTCAGGGGCAGGG
n.7918+51_7918+52insTCAGGGGCAGGG
gnomAD v4
19g.38502796_38502797insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGCA2814347027RYR1c.7835+69_7835+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7835+69_7835+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG)
c.7832+69_7832+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7832+69_7832+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG)
c.1287+69_1287+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG
n.7918+69_7918+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG
19g.38502802_38502803insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGCA2584900698RYR1c.7835+75_7836-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7835+75_7836-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG)
c.7832+75_7833-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7832+75_7833-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG)
c.1287+75_1288-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG
n.7918+75_7919-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG
gnomAD v4
19g.38502768_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054549RYR1c.7835+41_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+41_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+41_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+41_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+41_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+41_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502769delCA995717759RYR1c.7835+42del (n.7835+42del)
c.7832+42del (n.7832+42del)
c.1287+42del
n.7918+42del
dbSNP gnomAD v3 gnomAD v4
19g.38502769A=CA2335054552RYR1c.7835+42A= (n.7835+42A=)
c.7832+42A= (n.7832+42A=)
c.1287+42A=
n.7918+42A=
19g.38502769A>CCA2814347033RYR1c.7835+42A>C (n.7835+42A>C)
c.7832+42A>C (n.7832+42A>C)
c.1287+42A>C
n.7918+42A>C
19g.38502769A>GCA882054038RYR1c.7835+42A>G (n.7835+42A>G)
c.7832+42A>G (n.7832+42A>G)
c.1287+42A>G
n.7918+42A>G
dbSNP
19g.38502769A>TCA9415876RYR1c.7835+42A>T (n.7835+42A>T)
c.7832+42A>T (n.7832+42A>T)
c.1287+42A>T
n.7918+42A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502769_38502771delinsAGGCA2335054550RYR1c.7835+42_7835+44delinsAGG (n.7835+42_7835+44delinsAGG)
c.7832+42_7832+44delinsAGG (n.7832+42_7832+44delinsAGG)
c.1287+42_1287+44delinsAGG
n.7918+42_7918+44delinsAGG
19g.38502769_38502773delCA2814347031RYR1c.7835+42_7835+46del (n.7835+42_7835+46del)
c.7832+42_7832+46del (n.7832+42_7832+46del)
c.1287+42_1287+46del
n.7918+42_7918+46del
19g.38502773_38502774insGAGGGGCA2584900701RYR1c.7835+46_7835+47insGAGGGG (n.7835+46_7835+47insGAGGGG)
c.7832+46_7832+47insGAGGGG (n.7832+46_7832+47insGAGGGG)
c.1287+46_1287+47insGAGGGG
n.7918+46_7918+47insGAGGGG
gnomAD v4
19g.38502773_38502774insTAGGGGCA2584900700RYR1c.7835+46_7835+47insTAGGGG (n.7835+46_7835+47insTAGGGG)
c.7832+46_7832+47insTAGGGG (n.7832+46_7832+47insTAGGGG)
c.1287+46_1287+47insTAGGGG
n.7918+46_7918+47insTAGGGG
gnomAD v4
19g.38502769_38502776delCA995717736RYR1c.7835+42_7835+49del (n.7835+42_7835+49del)
c.7832+42_7832+49del (n.7832+42_7832+49del)
c.1287+42_1287+49del
n.7918+42_7918+49del
dbSNP gnomAD v3 gnomAD v4
19g.38502769_38502778delinsAGGGGCAGGGCA2335054551RYR1c.7835+42_7835+51delinsAGGGGCAGGG (n.7835+42_7835+51delinsAGGGGCAGGG)
c.7832+42_7832+51delinsAGGGGCAGGG (n.7832+42_7832+51delinsAGGGGCAGGG)
c.1287+42_1287+51delinsAGGGGCAGGG
n.7918+42_7918+51delinsAGGGGCAGGG
19g.38502779_38502780insTAGGGGCAGGGGCA2335054554RYR1c.7835+52_7835+53insTAGGGGCAGGGG (n.7835+52_7835+53insTAGGGGCAGGGG)
c.7832+52_7832+53insTAGGGGCAGGGG (n.7832+52_7832+53insTAGGGGCAGGGG)
c.1287+52_1287+53insTAGGGGCAGGGG
n.7918+52_7918+53insTAGGGGCAGGGG
dbSNP
19g.38502769_38502784delinsAGGGGCAGGGGCAGGGCA2335054553RYR1c.7835+42_7835+57delinsAGGGGCAGGGGCAGGG (n.7835+42_7835+57delinsAGGGGCAGGGGCAGGG)
c.7832+42_7832+57delinsAGGGGCAGGGGCAGGG (n.7832+42_7832+57delinsAGGGGCAGGGGCAGGG)
c.1287+42_1287+57delinsAGGGGCAGGGGCAGGG
n.7918+42_7918+57delinsAGGGGCAGGGGCAGGG
19g.38502785_38502786insTAGGGGCAGGGGCAGGGGCA633066242RYR1c.7835+58_7835+59insTAGGGGCAGGGGCAGGGG (n.7835+58_7835+59insTAGGGGCAGGGGCAGGGG)
c.7832+58_7832+59insTAGGGGCAGGGGCAGGGG (n.7832+58_7832+59insTAGGGGCAGGGGCAGGGG)
c.1287+58_1287+59insTAGGGGCAGGGGCAGGGG
n.7918+58_7918+59insTAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCA9415871RYR1c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCA995717732RYR1c.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCA2584900702RYR1c.7835+64_7835+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717769RYR1c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502797_38502798insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717767RYR1c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717772RYR1c.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502772_38502813delCA9415870RYR1c.7835+45_7836-67del (n.7835+45_7836-67del)
c.7832+45_7833-67del (n.7832+45_7833-67del)
c.1287+45_1288-67del
n.7918+45_7919-67del
dbSNP ExAC
19g.38502770G>ACA9415877RYR1c.7835+43G>A (n.7835+43G>A)
c.7832+43G>A (n.7832+43G>A)
c.1287+43G>A
n.7918+43G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502770G>CCA633066244RYR1c.7835+43G>C (n.7835+43G>C)
c.7832+43G>C (n.7832+43G>C)
c.1287+43G>C
n.7918+43G>C
dbSNP gnomAD v2 gnomAD v4
19g.38502770G=CA2335054557RYR1c.7835+43G= (n.7835+43G=)
c.7832+43G= (n.7832+43G=)
c.1287+43G=
n.7918+43G=
19g.38502770G>TCA995717786RYR1c.7835+43G>T (n.7835+43G>T)
c.7832+43G>T (n.7832+43G>T)
c.1287+43G>T
n.7918+43G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502771_38502772insCTTCAGGGTGGCA633066243RYR1c.7835+44_7835+45insCTTCAGGGTGG (n.7835+44_7835+45insCTTCAGGGTGG)
c.7832+44_7832+45insCTTCAGGGTGG (n.7832+44_7832+45insCTTCAGGGTGG)
c.1287+44_1287+45insCTTCAGGGTGG
n.7918+44_7918+45insCTTCAGGGTGG
gnomAD v2 gnomAD v4
19g.38502770_38502773delCA2584900704RYR1c.7835+43_7835+46del (n.7835+43_7835+46del)
c.7832+43_7832+46del (n.7832+43_7832+46del)
c.1287+43_1287+46del
n.7918+43_7918+46del
gnomAD v4
19g.38502773delCA995717777RYR1c.7835+46del (n.7835+46del)
c.7832+46del (n.7832+46del)
c.1287+46del
n.7918+46del
dbSNP gnomAD v3 gnomAD v4
19g.38502772_38502773delCA9415875RYR1c.7835+45_7835+46del (n.7835+45_7835+46del)
c.7832+45_7832+46del (n.7832+45_7832+46del)
c.1287+45_1287+46del
n.7918+45_7918+46del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502770_38502774delCA2584900703RYR1c.7835+43_7835+47del (n.7835+43_7835+47del)
c.7832+43_7832+47del (n.7832+43_7832+47del)
c.1287+43_1287+47del
n.7918+43_7918+47del
gnomAD v4
19g.38502774_38502775insCGGGGCCGGGGCCA2814347041RYR1c.7835+47_7835+48insCGGGGCCGGGGC (n.7835+47_7835+48insCGGGGCCGGGGC)
c.7832+47_7832+48insCGGGGCCGGGGC (n.7832+47_7832+48insCGGGGCCGGGGC)
c.1287+47_1287+48insCGGGGCCGGGGC
n.7918+47_7918+48insCGGGGCCGGGGC
19g.38502772_38502779delCA9415874RYR1c.7835+45_7835+52del (n.7835+45_7835+52del)
c.7832+45_7832+52del (n.7832+45_7832+52del)
c.1287+45_1287+52del
n.7918+45_7918+52del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502771_38502779delCA633066245RYR1c.7835+44_7835+52del (n.7835+44_7835+52del)
c.7832+44_7832+52del (n.7832+44_7832+52del)
c.1287+44_1287+52del
n.7918+44_7918+52del
dbSNP gnomAD v2 gnomAD v4
19g.38502770_38502780delinsGGGGCAGGGGCCA2335054556RYR1c.7835+43_7835+53delinsGGGGCAGGGGC (n.7835+43_7835+53delinsGGGGCAGGGGC)
c.7832+43_7832+53delinsGGGGCAGGGGC (n.7832+43_7832+53delinsGGGGCAGGGGC)
c.1287+43_1287+53delinsGGGGCAGGGGC
n.7918+43_7918+53delinsGGGGCAGGGGC
19g.38502772_38502785delCA995717783RYR1c.7835+45_7835+58del (n.7835+45_7835+58del)
c.7832+45_7832+58del (n.7832+45_7832+58del)
c.1287+45_1287+58del
n.7918+45_7918+58del
dbSNP gnomAD v3 gnomAD v4
19g.38502771_38502785delCA9415873RYR1c.7835+44_7835+58del (n.7835+44_7835+58del)
c.7832+44_7832+58del (n.7832+44_7832+58del)
c.1287+44_1287+58del
n.7918+44_7918+58del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502770_38502814delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054558RYR1c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+43_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+43_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502770_38502816delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCCA2335054555RYR1c.7835+43_7836-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7835+43_7836-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC)
c.7832+43_7833-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7832+43_7833-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC)
c.1287+43_1288-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC
n.7918+43_7919-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC
19g.38502770_38502771insCAGAGCCA2584900708RYR1c.7835+43_7835+44insCAGAGC (n.7835+43_7835+44insCAGAGC)
c.7832+43_7832+44insCAGAGC (n.7832+43_7832+44insCAGAGC)
c.1287+43_1287+44insCAGAGC
n.7918+43_7918+44insCAGAGC
gnomAD v4
19g.38502771G>ACA9415881RYR1c.7835+44G>A (n.7835+44G>A)
c.7832+44G>A (n.7832+44G>A)
c.1287+44G>A
n.7918+44G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502771G>CCA882054045RYR1c.7835+44G>C (n.7835+44G>C)
c.7832+44G>C (n.7832+44G>C)
c.1287+44G>C
n.7918+44G>C
dbSNP
19g.38502771G=CA2335054559RYR1c.7835+44G= (n.7835+44G=)
c.7832+44G= (n.7832+44G=)
c.1287+44G=
n.7918+44G=
19g.38502771G>TCA9415880RYR1c.7835+44G>T (n.7835+44G>T)
c.7832+44G>T (n.7832+44G>T)
c.1287+44G>T
n.7918+44G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502771_38502774delinsGGGCCA2335054560RYR1c.7835+44_7835+47delinsGGGC (n.7835+44_7835+47delinsGGGC)
c.7832+44_7832+47delinsGGGC (n.7832+44_7832+47delinsGGGC)
c.1287+44_1287+47delinsGGGC
n.7918+44_7918+47delinsGGGC
19g.38502775_38502776insCGGGCACA633066246RYR1c.7835+48_7835+49insCGGGCA (n.7835+48_7835+49insCGGGCA)
c.7832+48_7832+49insCGGGCA (n.7832+48_7832+49insCGGGCA)
c.1287+48_1287+49insCGGGCA
n.7918+48_7918+49insCGGGCA
dbSNP gnomAD v2 gnomAD v4
19g.38502771_38502780delCA995717793RYR1c.7835+44_7835+53del (n.7835+44_7835+53del)
c.7832+44_7832+53del (n.7832+44_7832+53del)
c.1287+44_1287+53del
n.7918+44_7918+53del
dbSNP gnomAD v3 gnomAD v4
19g.38502771_38502786delCA2584900707RYR1c.7835+44_7835+59del (n.7835+44_7835+59del)
c.7832+44_7832+59del (n.7832+44_7832+59del)
c.1287+44_1287+59del
n.7918+44_7918+59del
gnomAD v4
19g.38502771_38502792delCA2584900706RYR1c.7835+44_7835+65del (n.7835+44_7835+65del)
c.7832+44_7832+65del (n.7832+44_7832+65del)
c.1287+44_1287+65del
n.7918+44_7918+65del
gnomAD v4
19g.38502771_38502798delCA995717800RYR1c.7835+44_7835+71del (n.7835+44_7835+71del)
c.7832+44_7832+71del (n.7832+44_7832+71del)
c.1287+44_1287+71del
n.7918+44_7918+71del
gnomAD v3 gnomAD v4
19g.38502771_38502804delCA2584900705RYR1c.7835+44_7836-76del (n.7835+44_7836-76del)
c.7832+44_7833-76del (n.7832+44_7833-76del)
c.1287+44_1288-76del
n.7918+44_7919-76del
gnomAD v4
19g.38502772_38502815delCA9415878RYR1c.7835+45_7836-65del (n.7835+45_7836-65del)
c.7832+45_7833-65del (n.7832+45_7833-65del)
c.1287+45_1288-65del
n.7918+45_7919-65del
dbSNP ExAC gnomAD v4
19g.38502771_38502816delCA9415879RYR1c.7835+44_7836-64del (n.7835+44_7836-64del)
c.7832+44_7833-64del (n.7832+44_7833-64del)
c.1287+44_1288-64del
n.7918+44_7919-64del
dbSNP ExAC
19g.38502771_38502772insACA2814347045RYR1c.7835+44_7835+45insA (n.7835+44_7835+45insA)
c.7832+44_7832+45insA (n.7832+44_7832+45insA)
c.1287+44_1287+45insA
n.7918+44_7918+45insA
19g.38502771_38502772insCTTCACA2576771118RYR1c.7835+44_7835+45insCTTCA (n.7835+44_7835+45insCTTCA)
c.7832+44_7832+45insCTTCA (n.7832+44_7832+45insCTTCA)
c.1287+44_1287+45insCTTCA
n.7918+44_7918+45insCTTCA
gnomAD v4
19g.38502772G>ACA9415884RYR1c.7835+45G>A (n.7835+45G>A)
c.7832+45G>A (n.7832+45G>A)
c.1287+45G>A
n.7918+45G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502772G>CCA2576771119RYR1c.7835+45G>C (n.7835+45G>C)
c.7832+45G>C (n.7832+45G>C)
c.1287+45G>C
n.7918+45G>C
19g.38502772G=CA2335054561RYR1c.7835+45G= (n.7835+45G=)
c.7832+45G= (n.7832+45G=)
c.1287+45G=
n.7918+45G=
19g.38502772_38502774delCA9415882RYR1c.7835+45_7835+47del (n.7835+45_7835+47del)
c.7832+45_7832+47del (n.7832+45_7832+47del)
c.1287+45_1287+47del
n.7918+45_7918+47del
dbSNP ExAC gnomAD v4
19g.38502772_38502774delinsGGCCA2335054562RYR1c.7835+45_7835+47delinsGGC (n.7835+45_7835+47delinsGGC)
c.7832+45_7832+47delinsGGC (n.7832+45_7832+47delinsGGC)
c.1287+45_1287+47delinsGGC
n.7918+45_7918+47delinsGGC
19g.38502794_38502795insTGGCAGGGGCAGGGGCAGGGGCAGCA633066247RYR1c.7835+67_7835+68insTGGCAGGGGCAGGGGCAGGGGCAG (n.7835+67_7835+68insTGGCAGGGGCAGGGGCAGGGGCAG)
c.7832+67_7832+68insTGGCAGGGGCAGGGGCAGGGGCAG (n.7832+67_7832+68insTGGCAGGGGCAGGGGCAGGGGCAG)
c.1287+67_1287+68insTGGCAGGGGCAGGGGCAGGGGCAG
n.7918+67_7918+68insTGGCAGGGGCAGGGGCAGGGGCAG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502772_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054563RYR1c.7835+45_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+45_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+45_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+45_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+45_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+45_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502773G>ACA070525RYR1c.7835+46G>A (n.7835+46G>A)
c.7832+46G>A (n.7832+46G>A)
c.1287+46G>A
n.7918+46G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502773G>CCA2335054565RYR1c.7835+46G>C (n.7835+46G>C)
c.7832+46G>C (n.7832+46G>C)
c.1287+46G>C
n.7918+46G>C
dbSNP gnomAD v4
19g.38502773G=CA2335054564RYR1c.7835+46G= (n.7835+46G=)
c.7832+46G= (n.7832+46G=)
c.1287+46G=
n.7918+46G=
19g.38502773G>TCA2584900709RYR1c.7835+46G>T (n.7835+46G>T)
c.7832+46G>T (n.7832+46G>T)
c.1287+46G>T
n.7918+46G>T
gnomAD v4
19g.38502773_38502774delCA9415885RYR1c.7835+46_7835+47del (n.7835+46_7835+47del)
c.7832+46_7832+47del (n.7832+46_7832+47del)
c.1287+46_1287+47del
n.7918+46_7918+47del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502773_38502775delinsGCACA2335054566RYR1c.7835+46_7835+48delinsGCA (n.7835+46_7835+48delinsGCA)
c.7832+46_7832+48delinsGCA (n.7832+46_7832+48delinsGCA)
c.1287+46_1287+48delinsGCA
n.7918+46_7918+48delinsGCA
19g.38502785_38502786insGAGGAGCAGGGGCAGGGGCA2584900710RYR1c.7835+58_7835+59insGAGGAGCAGGGGCAGGGG (n.7835+58_7835+59insGAGGAGCAGGGGCAGGGG)
c.7832+58_7832+59insGAGGAGCAGGGGCAGGGG (n.7832+58_7832+59insGAGGAGCAGGGGCAGGGG)
c.1287+58_1287+59insGAGGAGCAGGGGCAGGGG
n.7918+58_7918+59insGAGGAGCAGGGGCAGGGG
gnomAD v4
19g.38502789_38502830delCA9415883RYR1c.7835+62_7836-50del (n.7835+62_7836-50del)
c.7832+62_7833-50del (n.7832+62_7833-50del)
c.1287+62_1288-50del
n.7918+62_7919-50del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502774delCA2584900712RYR1c.7835+47del (n.7835+47del)
c.7832+47del (n.7832+47del)
c.1287+47del
n.7918+47del
gnomAD v4
19g.38502774C>ACA2584900713RYR1c.7835+47C>A (n.7835+47C>A)
c.7832+47C>A (n.7832+47C>A)
c.1287+47C>A
n.7918+47C>A
gnomAD v4
19g.38502774C=CA2335054568RYR1c.7835+47C= (n.7835+47C=)
c.7832+47C= (n.7832+47C=)
c.1287+47C=
n.7918+47C=
19g.38502774C>GCA633066249RYR1c.7835+47C>G (n.7835+47C>G)
c.7832+47C>G (n.7832+47C>G)
c.1287+47C>G
n.7918+47C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502774C>TCA9415887RYR1c.7835+47C>T (n.7835+47C>T)
c.7832+47C>T (n.7832+47C>T)
c.1287+47C>T
n.7918+47C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502774_38502775insTTCCA2584900711RYR1c.7835+47_7835+48insTTC (n.7835+47_7835+48insTTC)
c.7832+47_7832+48insTTC (n.7832+47_7832+48insTTC)
c.1287+47_1287+48insTTC
n.7918+47_7918+48insTTC
gnomAD v4
19g.38502774_38502775delCA633066248RYR1c.7835+47_7835+48del (n.7835+47_7835+48del)
c.7832+47_7832+48del (n.7832+47_7832+48del)
c.1287+47_1287+48del
n.7918+47_7918+48del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502778_38502779insACAGGGCA920105584RYR1c.7835+51_7835+52insACAGGG (n.7835+51_7835+52insACAGGG)
c.7832+51_7832+52insACAGGG (n.7832+51_7832+52insACAGGG)
c.1287+51_1287+52insACAGGG
n.7918+51_7918+52insACAGGG
dbSNP
19g.38502778_38502779insTCAGGGCA633066250RYR1c.7835+51_7835+52insTCAGGG (n.7835+51_7835+52insTCAGGG)
c.7832+51_7832+52insTCAGGG (n.7832+51_7832+52insTCAGGG)
c.1287+51_1287+52insTCAGGG
n.7918+51_7918+52insTCAGGG
dbSNP gnomAD v2 gnomAD v4
19g.38502774_38502791delinsCAGGGGCAGGGGCAGGGGCA2335054567RYR1c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG (n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG)
c.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG (n.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG)
c.1287+47_1287+64delinsCAGGGGCAGGGGCAGGGG
n.7918+47_7918+64delinsCAGGGGCAGGGGCAGGGG
19g.38502774_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054569RYR1c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+47_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+47_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502775delCA2584900714RYR1c.7835+48del (n.7835+48del)
c.7832+48del (n.7832+48del)
c.1287+48del
n.7918+48del
gnomAD v4
19g.38502775A=CA2335054570RYR1c.7835+48A= (n.7835+48A=)
c.7832+48A= (n.7832+48A=)
c.1287+48A=
n.7918+48A=
19g.38502775A>CCA2584900716RYR1c.7835+48A>C (n.7835+48A>C)
c.7832+48A>C (n.7832+48A>C)
c.1287+48A>C
n.7918+48A>C
dbSNP gnomAD v4
19g.38502775A>GCA633066255RYR1c.7835+48A>G (n.7835+48A>G)
c.7832+48A>G (n.7832+48A>G)
c.1287+48A>G
n.7918+48A>G
dbSNP gnomAD v2 gnomAD v4
19g.38502775A>TCA633066256RYR1c.7835+48A>T (n.7835+48A>T)
c.7832+48A>T (n.7832+48A>T)
c.1287+48A>T
n.7918+48A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502775_38502778delinsAGGGCA2335054573RYR1c.7835+48_7835+51delinsAGGG (n.7835+48_7835+51delinsAGGG)
c.7832+48_7832+51delinsAGGG (n.7832+48_7832+51delinsAGGG)
c.1287+48_1287+51delinsAGGG
n.7918+48_7918+51delinsAGGG
19g.38502775_38502779delinsAGGGGCA2335054572RYR1c.7835+48_7835+52delinsAGGGG (n.7835+48_7835+52delinsAGGGG)
c.7832+48_7832+52delinsAGGGG (n.7832+48_7832+52delinsAGGGG)
c.1287+48_1287+52delinsAGGGG
n.7918+48_7918+52delinsAGGGG
19g.38502779_38502780insAAGGGGCA2584900719RYR1c.7835+52_7835+53insAAGGGG (n.7835+52_7835+53insAAGGGG)
c.7832+52_7832+53insAAGGGG (n.7832+52_7832+53insAAGGGG)
c.1287+52_1287+53insAAGGGG
n.7918+52_7918+53insAAGGGG
gnomAD v4
19g.38502779_38502780insGAGGGGCA633066253RYR1c.7835+52_7835+53insGAGGGG (n.7835+52_7835+53insGAGGGG)
c.7832+52_7832+53insGAGGGG (n.7832+52_7832+53insGAGGGG)
c.1287+52_1287+53insGAGGGG
n.7918+52_7918+53insGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502779_38502780insTAGGGGCA2335054574RYR1c.7835+52_7835+53insTAGGGG (n.7835+52_7835+53insTAGGGG)
c.7832+52_7832+53insTAGGGG (n.7832+52_7832+53insTAGGGG)
c.1287+52_1287+53insTAGGGG
n.7918+52_7918+53insTAGGGG
dbSNP gnomAD v4
19g.38502779_38502780insGAGGGGGAGGGGCA2814347055RYR1c.7835+52_7835+53insGAGGGGGAGGGG (n.7835+52_7835+53insGAGGGGGAGGGG)
c.7832+52_7832+53insGAGGGGGAGGGG (n.7832+52_7832+53insGAGGGGGAGGGG)
c.1287+52_1287+53insGAGGGGGAGGGG
n.7918+52_7918+53insGAGGGGGAGGGG
19g.38502775_38502782delCA2814347050RYR1c.7835+48_7835+55del (n.7835+48_7835+55del)
c.7832+48_7832+55del (n.7832+48_7832+55del)
c.1287+48_1287+55del
n.7918+48_7918+55del
19g.38502785_38502786insTAGGGGCAGGGGCA995717831RYR1c.7835+58_7835+59insTAGGGGCAGGGG (n.7835+58_7835+59insTAGGGGCAGGGG)
c.7832+58_7832+59insTAGGGGCAGGGG (n.7832+58_7832+59insTAGGGGCAGGGG)
c.1287+58_1287+59insTAGGGGCAGGGG
n.7918+58_7918+59insTAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502775_38502787delCA2814347053RYR1c.7835+48_7835+60del (n.7835+48_7835+60del)
c.7832+48_7832+60del (n.7832+48_7832+60del)
c.1287+48_1287+60del
n.7918+48_7918+60del
19g.38502775_38502788delCA2584900715RYR1c.7835+48_7835+61del (n.7835+48_7835+61del)
c.7832+48_7832+61del (n.7832+48_7832+61del)
c.1287+48_1287+61del
n.7918+48_7918+61del
gnomAD v4
19g.38502775_38502791delCA995717822RYR1c.7835+48_7835+64del (n.7835+48_7835+64del)
c.7832+48_7832+64del (n.7832+48_7832+64del)
c.1287+48_1287+64del
n.7918+48_7918+64del
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGCAGGGGCAGGGGCA995717828RYR1c.7835+64_7835+65insTAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGTAGGGGCAGGGGCAGGGGCA633066252RYR1c.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGTAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGTAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGGCA2584900717RYR1c.7835+64_7835+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCA633066251RYR1c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502798insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCA995717830RYR1c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502797_38502798insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCA995717829RYR1c.7835+70_7835+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA633066254RYR1c.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502803_38502804insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900718RYR1c.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502775_38502809delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2335054571RYR1c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1287+48_1288-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7918+48_7919-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
19g.38502809_38502810insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995717824RYR1c.7836-71_7836-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502778_38502813delCA9415886RYR1c.7835+51_7836-67del (n.7835+51_7836-67del)
c.7832+51_7833-67del (n.7832+51_7833-67del)
c.1287+51_1288-67del
n.7918+51_7919-67del
dbSNP ExAC gnomAD v4
19g.38502776G>ACA633066258RYR1c.7835+49G>A (n.7835+49G>A)
c.7832+49G>A (n.7832+49G>A)
c.1287+49G>A
n.7918+49G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502776G>CCA633066257RYR1c.7835+49G>C (n.7835+49G>C)
c.7832+49G>C (n.7832+49G>C)
c.1287+49G>C
n.7918+49G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502776G=CA2335054575RYR1c.7835+49G= (n.7835+49G=)
c.7832+49G= (n.7832+49G=)
c.1287+49G=
n.7918+49G=
19g.38502776G>TCA2584900721RYR1c.7835+49G>T (n.7835+49G>T)
c.7832+49G>T (n.7832+49G>T)
c.1287+49G>T
n.7918+49G>T
gnomAD v4
19g.38502776_38502779delCA9415888RYR1c.7835+49_7835+52del (n.7835+49_7835+52del)
c.7832+49_7832+52del (n.7832+49_7832+52del)
c.1287+49_1287+52del
n.7918+49_7918+52del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502779dupCA2576771120RYR1c.7835+52dup (n.7835+52dup)
c.7832+52dup (n.7832+52dup)
c.1287+52dup
n.7918+52dup
19g.38502779delCA2584900726RYR1c.7835+52del (n.7835+52del)
c.7832+52del (n.7832+52del)
c.1287+52del
n.7918+52del
gnomAD v4
19g.38502777_38502779delCA9415890RYR1c.7835+50_7835+52del (n.7835+50_7835+52del)
c.7832+50_7832+52del (n.7832+50_7832+52del)
c.1287+50_1287+52del
n.7918+50_7918+52del
dbSNP ExAC gnomAD v4
19g.38502776_38502780delCA2584900720RYR1c.7835+49_7835+53del (n.7835+49_7835+53del)
c.7832+49_7832+53del (n.7832+49_7832+53del)
c.1287+49_1287+53del
n.7918+49_7918+53del
gnomAD v4
19g.38502780_38502781insCGGGGCCA2814347062RYR1c.7835+53_7835+54insCGGGGC (n.7835+53_7835+54insCGGGGC)
c.7832+53_7832+54insCGGGGC (n.7832+53_7832+54insCGGGGC)
c.1287+53_1287+54insCGGGGC
n.7918+53_7918+54insCGGGGC
19g.38502779_38502785delCA2584900725RYR1c.7835+52_7835+58del (n.7835+52_7835+58del)
c.7832+52_7832+58del (n.7832+52_7832+58del)
c.1287+52_1287+58del
n.7918+52_7918+58del
gnomAD v4
19g.38502776_38502791delCA2584900722RYR1c.7835+49_7835+64del (n.7835+49_7835+64del)
c.7832+49_7832+64del (n.7832+49_7832+64del)
c.1287+49_1287+64del
n.7918+49_7918+64del
gnomAD v4
19g.38502779_38502791delCA2584900724RYR1c.7835+52_7835+64del (n.7835+52_7835+64del)
c.7832+52_7832+64del (n.7832+52_7832+64del)
c.1287+52_1287+64del
n.7918+52_7918+64del
gnomAD v4
19g.38502777_38502791delCA2584900723RYR1c.7835+50_7835+64del (n.7835+50_7835+64del)
c.7832+50_7832+64del (n.7832+50_7832+64del)
c.1287+50_1287+64del
n.7918+50_7918+64del
gnomAD v4
19g.38502776_38502792delinsGGGGCAGGGGCAGGGGCCA2335054576RYR1c.7835+49_7835+65delinsGGGGCAGGGGCAGGGGC (n.7835+49_7835+65delinsGGGGCAGGGGCAGGGGC)
c.7832+49_7832+65delinsGGGGCAGGGGCAGGGGC (n.7832+49_7832+65delinsGGGGCAGGGGCAGGGGC)
c.1287+49_1287+65delinsGGGGCAGGGGCAGGGGC
n.7918+49_7918+65delinsGGGGCAGGGGCAGGGGC
19g.38502777_38502810delCA9415889RYR1c.7835+50_7836-70del (n.7835+50_7836-70del)
c.7832+50_7833-70del (n.7832+50_7833-70del)
c.1287+50_1288-70del
n.7918+50_7919-70del
dbSNP ExAC
19g.38502776_38502777insCACA2584900729RYR1c.7835+49_7835+50insCA (n.7835+49_7835+50insCA)
c.7832+49_7832+50insCA (n.7832+49_7832+50insCA)
c.1287+49_1287+50insCA
n.7918+49_7918+50insCA
gnomAD v4
19g.38502776_38502777insCAGAGCCA2584900728RYR1c.7835+49_7835+50insCAGAGC (n.7835+49_7835+50insCAGAGC)
c.7832+49_7832+50insCAGAGC (n.7832+49_7832+50insCAGAGC)
c.1287+49_1287+50insCAGAGC
n.7918+49_7918+50insCAGAGC
gnomAD v4
19g.38502777G>ACA070539RYR1c.7835+50G>A (n.7835+50G>A)
c.7832+50G>A (n.7832+50G>A)
c.1287+50G>A
n.7918+50G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502777G>CCA2576771121RYR1c.7835+50G>C (n.7835+50G>C)
c.7832+50G>C (n.7832+50G>C)
c.1287+50G>C
n.7918+50G>C
19g.38502777G=CA2335054577RYR1c.7835+50G= (n.7835+50G=)
c.7832+50G= (n.7832+50G=)
c.1287+50G=
n.7918+50G=
19g.38502777_38502780delCA2584900730RYR1c.7835+50_7835+53del (n.7835+50_7835+53del)
c.7832+50_7832+53del (n.7832+50_7832+53del)
c.1287+50_1287+53del
n.7918+50_7918+53del
gnomAD v4
19g.38502780_38502784dupCA633066260RYR1c.7835+53_7835+57dup (n.7835+53_7835+57dup)
c.7832+53_7832+57dup (n.7832+53_7832+57dup)
c.1287+53_1287+57dup
n.7918+53_7918+57dup
dbSNP gnomAD v2 gnomAD v4
19g.38502777_38502792delCA633066259RYR1c.7835+50_7835+65del (n.7835+50_7835+65del)
c.7832+50_7832+65del (n.7832+50_7832+65del)
c.1287+50_1287+65del
n.7918+50_7918+65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502777_38502816delCA2584900727RYR1c.7835+50_7836-64del (n.7835+50_7836-64del)
c.7832+50_7833-64del (n.7832+50_7833-64del)
c.1287+50_1288-64del
n.7918+50_7919-64del
gnomAD v4
19g.38502778G>ACA9415893RYR1c.7835+51G>A (n.7835+51G>A)
c.7832+51G>A (n.7832+51G>A)
c.1287+51G>A
n.7918+51G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502778G>CCA2335054581RYR1c.7835+51G>C (n.7835+51G>C)
c.7832+51G>C (n.7832+51G>C)
c.1287+51G>C
n.7918+51G>C
dbSNP
19g.38502778G=CA2335054578RYR1c.7835+51G= (n.7835+51G=)
c.7832+51G= (n.7832+51G=)
c.1287+51G=
n.7918+51G=
19g.38502778G>TCA2335054580RYR1c.7835+51G>T (n.7835+51G>T)
c.7832+51G>T (n.7832+51G>T)
c.1287+51G>T
n.7918+51G>T
dbSNP
19g.38502778_38502780delCA2584900732RYR1c.7835+51_7835+53del (n.7835+51_7835+53del)
c.7832+51_7832+53del (n.7832+51_7832+53del)
c.1287+51_1287+53del
n.7918+51_7918+53del
gnomAD v4
19g.38502782_38502783insAGGCAGCA995717840RYR1c.7835+55_7835+56insAGGCAG (n.7835+55_7835+56insAGGCAG)
c.7832+55_7832+56insAGGCAG (n.7832+55_7832+56insAGGCAG)
c.1287+55_1287+56insAGGCAG
n.7918+55_7918+56insAGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502794_38502795insAGGCAGGGGCAGGGGCAGCA2584900731RYR1c.7835+67_7835+68insAGGCAGGGGCAGGGGCAG (n.7835+67_7835+68insAGGCAGGGGCAGGGGCAG)
c.7832+67_7832+68insAGGCAGGGGCAGGGGCAG (n.7832+67_7832+68insAGGCAGGGGCAGGGGCAG)
c.1287+67_1287+68insAGGCAGGGGCAGGGGCAG
n.7918+67_7918+68insAGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502778_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054579RYR1c.7835+51_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+51_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+51_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+51_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+51_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+51_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502778_38502831delCA2584900733RYR1c.7835+51_7836-49del (n.7835+51_7836-49del)
c.7832+51_7833-49del (n.7832+51_7833-49del)
c.1287+51_1288-49del
n.7918+51_7919-49del
gnomAD v4
19g.38502779G>ACA633066262RYR1c.7835+52G>A (n.7835+52G>A)
c.7832+52G>A (n.7832+52G>A)
c.1287+52G>A
n.7918+52G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502779G=CA2335054583RYR1c.7835+52G= (n.7835+52G=)
c.7832+52G= (n.7832+52G=)
c.1287+52G=
n.7918+52G=
19g.38502779_38502780delCA2524977630RYR1c.7835+52_7835+53del (n.7835+52_7835+53del)
c.7832+52_7832+53del (n.7832+52_7832+53del)
c.1287+52_1287+53del
n.7918+52_7918+53del
gnomAD v3 gnomAD v4
19g.38502779_38502781delinsGCACA2335054582RYR1c.7835+52_7835+54delinsGCA (n.7835+52_7835+54delinsGCA)
c.7832+52_7832+54delinsGCA (n.7832+52_7832+54delinsGCA)
c.1287+52_1287+54delinsGCA
n.7918+52_7918+54delinsGCA
19g.38502785_38502786insGAGGAGCAGGGGCA9415892RYR1c.7835+58_7835+59insGAGGAGCAGGGG (n.7835+58_7835+59insGAGGAGCAGGGG)
c.7832+58_7832+59insGAGGAGCAGGGG (n.7832+58_7832+59insGAGGAGCAGGGG)
c.1287+58_1287+59insGAGGAGCAGGGG
n.7918+58_7918+59insGAGGAGCAGGGG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502791_38502792insGAGGAGCAGGGGCAGGGGCA633066261RYR1c.7835+64_7835+65insGAGGAGCAGGGGCAGGGG (n.7835+64_7835+65insGAGGAGCAGGGGCAGGGG)
c.7832+64_7832+65insGAGGAGCAGGGGCAGGGG (n.7832+64_7832+65insGAGGAGCAGGGGCAGGGG)
c.1287+64_1287+65insGAGGAGCAGGGGCAGGGG
n.7918+64_7918+65insGAGGAGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v4
19g.38502795_38502796insAGCAGGGGCAGGGGCAGGCA995717848RYR1c.7835+68_7835+69insAGCAGGGGCAGGGGCAGG (n.7835+68_7835+69insAGCAGGGGCAGGGGCAGG)
c.7832+68_7832+69insAGCAGGGGCAGGGGCAGG (n.7832+68_7832+69insAGCAGGGGCAGGGGCAGG)
c.1287+68_1287+69insAGCAGGGGCAGGGGCAGG
n.7918+68_7918+69insAGCAGGGGCAGGGGCAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900734RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502795_38502830dupCA995717850RYR1c.7835+68_7836-50dup (n.7835+68_7836-50dup)
c.7832+68_7833-50dup (n.7832+68_7833-50dup)
c.1287+68_1288-50dup
n.7918+68_7919-50dup
dbSNP gnomAD v3 gnomAD v4
19g.38502795_38502830delCA9415891RYR1c.7835+68_7836-50del (n.7835+68_7836-50del)
c.7832+68_7833-50del (n.7832+68_7833-50del)
c.1287+68_1288-50del
n.7918+68_7919-50del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502780_38502833delCA2538484218RYR1c.7835+53_7836-47del (n.7835+53_7836-47del)
c.7832+53_7833-47del (n.7832+53_7833-47del)
c.1287+53_1288-47del
n.7918+53_7919-47del
19g.38502780delCA2584900735RYR1c.7835+53del (n.7835+53del)
c.7832+53del (n.7832+53del)
c.1287+53del
n.7918+53del
gnomAD v4
19g.38502780C=CA2335054584RYR1c.7835+53C= (n.7835+53C=)
c.7832+53C= (n.7832+53C=)
c.1287+53C=
n.7918+53C=
19g.38502780C>GCA633066265RYR1c.7835+53C>G (n.7835+53C>G)
c.7832+53C>G (n.7832+53C>G)
c.1287+53C>G
n.7918+53C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502780C>TCA633066264RYR1c.7835+53C>T (n.7835+53C>T)
c.7832+53C>T (n.7832+53C>T)
c.1287+53C>T
n.7918+53C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502780_38502781delCA633066266RYR1c.7835+53_7835+54del (n.7835+53_7835+54del)
c.7832+53_7832+54del (n.7832+53_7832+54del)
c.1287+53_1287+54del
n.7918+53_7918+54del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502790_38502791insACAGGGGCAGGGCA2584900736RYR1c.7835+63_7835+64insACAGGGGCAGGG (n.7835+63_7835+64insACAGGGGCAGGG)
c.7832+63_7832+64insACAGGGGCAGGG (n.7832+63_7832+64insACAGGGGCAGGG)
c.1287+63_1287+64insACAGGGGCAGGG
n.7918+63_7918+64insACAGGGGCAGGG
gnomAD v4
19g.38502791_38502792insTAGGGGTAGGGACAGGGGCAGGGGCA633066263RYR1c.7835+64_7835+65insTAGGGGTAGGGACAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGACAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGTAGGGACAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGACAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGTAGGGACAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGTAGGGACAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v4
19g.38502796_38502797insACAGGGGCAGGGGCAGGGCA2584900737RYR1c.7835+69_7835+70insACAGGGGCAGGGGCAGGG (n.7835+69_7835+70insACAGGGGCAGGGGCAGGG)
c.7832+69_7832+70insACAGGGGCAGGGGCAGGG (n.7832+69_7832+70insACAGGGGCAGGGGCAGGG)
c.1287+69_1287+70insACAGGGGCAGGGGCAGGG
n.7918+69_7918+70insACAGGGGCAGGGGCAGGG
gnomAD v4
19g.38502780_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054585RYR1c.7835+53_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+53_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+53_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+53_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+53_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+53_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502781delCA2814347084RYR1c.7835+54del (n.7835+54del)
c.7832+54del (n.7832+54del)
c.1287+54del
n.7918+54del
19g.38502781A=CA2335054586RYR1c.7835+54A= (n.7835+54A=)
c.7832+54A= (n.7832+54A=)
c.1287+54A=
n.7918+54A=
19g.38502781A>CCA2335054587RYR1c.7835+54A>C (n.7835+54A>C)
c.7832+54A>C (n.7832+54A>C)
c.1287+54A>C
n.7918+54A>C
dbSNP gnomAD v4
19g.38502781A>GCA657360689RYR1c.7835+54A>G (n.7835+54A>G)
c.7832+54A>G (n.7832+54A>G)
c.1287+54A>G
n.7918+54A>G
dbSNP COSMIC
19g.38502781A>TCA2576771122RYR1c.7835+54A>T (n.7835+54A>T)
c.7832+54A>T (n.7832+54A>T)
c.1287+54A>T
n.7918+54A>T
19g.38502781_38502782delCA2584900739RYR1c.7835+54_7835+55del (n.7835+54_7835+55del)
c.7832+54_7832+55del (n.7832+54_7832+55del)
c.1287+54_1287+55del
n.7918+54_7918+55del
gnomAD v4
19g.38502785_38502786insGAGGGGCA633066267RYR1c.7835+58_7835+59insGAGGGG (n.7835+58_7835+59insGAGGGG)
c.7832+58_7832+59insGAGGGG (n.7832+58_7832+59insGAGGGG)
c.1287+58_1287+59insGAGGGG
n.7918+58_7918+59insGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502785_38502786insTAGGGGCA2584900740RYR1c.7835+58_7835+59insTAGGGG (n.7835+58_7835+59insTAGGGG)
c.7832+58_7832+59insTAGGGG (n.7832+58_7832+59insTAGGGG)
c.1287+58_1287+59insTAGGGG
n.7918+58_7918+59insTAGGGG
gnomAD v4
19g.38502785_38502786insGAGGGGGAGGGGCA995717869RYR1c.7835+58_7835+59insGAGGGGGAGGGG (n.7835+58_7835+59insGAGGGGGAGGGG)
c.7832+58_7832+59insGAGGGGGAGGGG (n.7832+58_7832+59insGAGGGGGAGGGG)
c.1287+58_1287+59insGAGGGGGAGGGG
n.7918+58_7918+59insGAGGGGGAGGGG
gnomAD v3 gnomAD v4
19g.38502785_38502786insGAGGGGGAGGGGGAGGGGCA995717888RYR1c.7835+58_7835+59insGAGGGGGAGGGGGAGGGG (n.7835+58_7835+59insGAGGGGGAGGGGGAGGGG)
c.7832+58_7832+59insGAGGGGGAGGGGGAGGGG (n.7832+58_7832+59insGAGGGGGAGGGGGAGGGG)
c.1287+58_1287+59insGAGGGGGAGGGGGAGGGG
n.7918+58_7918+59insGAGGGGGAGGGGGAGGGG
gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGCAGGGGCA995717898RYR1c.7835+64_7835+65insTAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGG)
c.7832+64_7832+65insTAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGG)
c.1287+64_1287+65insTAGGGGCAGGGG
n.7918+64_7918+65insTAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502797_38502798insTAGGGGCAGGGGCAGGGGCA995717897RYR1c.7835+70_7835+71insTAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGG)
c.7832+70_7832+71insTAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGG)
c.1287+70_1287+71insTAGGGGCAGGGGCAGGGG
n.7918+70_7918+71insTAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2584900741RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502784_38502813delCA882054072RYR1c.7835+57_7836-67del (n.7835+57_7836-67del)
c.7832+57_7833-67del (n.7832+57_7833-67del)
c.1287+57_1288-67del
n.7918+57_7919-67del
dbSNP gnomAD v3 gnomAD v4
19g.38502781_38502815delCA2584900738RYR1c.7835+54_7836-65del (n.7835+54_7836-65del)
c.7832+54_7833-65del (n.7832+54_7833-65del)
c.1287+54_1288-65del
n.7918+54_7919-65del
gnomAD v4
19g.38502782G>ACA2584900746RYR1c.7835+55G>A (n.7835+55G>A)
c.7832+55G>A (n.7832+55G>A)
c.1287+55G>A
n.7918+55G>A
gnomAD v4
19g.38502782G=CA2335054588RYR1c.7835+55G= (n.7835+55G=)
c.7832+55G= (n.7832+55G=)
c.1287+55G=
n.7918+55G=
19g.38502782G>TCA2584900745RYR1c.7835+55G>T (n.7835+55G>T)
c.7832+55G>T (n.7832+55G>T)
c.1287+55G>T
n.7918+55G>T
gnomAD v4
19g.38502783_38502784insCAGGGCAGGGGCAGGGGCA920105597RYR1c.7835+56_7835+57insCAGGGCAGGGGCAGGGG (n.7835+56_7835+57insCAGGGCAGGGGCAGGGG)
c.7832+56_7832+57insCAGGGCAGGGGCAGGGG (n.7832+56_7832+57insCAGGGCAGGGGCAGGGG)
c.1287+56_1287+57insCAGGGCAGGGGCAGGGG
n.7918+56_7918+57insCAGGGCAGGGGCAGGGG
dbSNP
19g.38502784_38502785dupCA2584900749RYR1c.7835+57_7835+58dup (n.7835+57_7835+58dup)
c.7832+57_7832+58dup (n.7832+57_7832+58dup)
c.1287+57_1287+58dup
n.7918+57_7918+58dup
gnomAD v4
19g.38502785delCA2584900747RYR1c.7835+58del (n.7835+58del)
c.7832+58del (n.7832+58del)
c.1287+58del
n.7918+58del
gnomAD v4
19g.38502784_38502785delCA913015956RYR1c.7835+57_7835+58del (n.7835+57_7835+58del)
c.7832+57_7832+58del (n.7832+57_7832+58del)
c.1287+57_1287+58del
n.7918+57_7918+58del
gnomAD v4
19g.38502783_38502785delCA2584900743RYR1c.7835+56_7835+58del (n.7835+56_7835+58del)
c.7832+56_7832+58del (n.7832+56_7832+58del)
c.1287+56_1287+58del
n.7918+56_7918+58del
gnomAD v4
19g.38502782_38502786delCA2584900742RYR1c.7835+55_7835+59del (n.7835+55_7835+59del)
c.7832+55_7832+59del (n.7832+55_7832+59del)
c.1287+55_1287+59del
n.7918+55_7918+59del
gnomAD v4
19g.38502786_38502787insCGGGGCCA2584900750RYR1c.7835+59_7835+60insCGGGGC (n.7835+59_7835+60insCGGGGC)
c.7832+59_7832+60insCGGGGC (n.7832+59_7832+60insCGGGGC)
c.1287+59_1287+60insCGGGGC
n.7918+59_7918+60insCGGGGC
gnomAD v4
19g.38502786_38502787insGGGGGCCA2584900748RYR1c.7835+59_7835+60insGGGGGC (n.7835+59_7835+60insGGGGGC)
c.7832+59_7832+60insGGGGGC (n.7832+59_7832+60insGGGGGC)
c.1287+59_1287+60insGGGGGC
n.7918+59_7918+60insGGGGGC
gnomAD v4
19g.38502783_38502791delCA2584900744RYR1c.7835+56_7835+64del (n.7835+56_7835+64del)
c.7832+56_7832+64del (n.7832+56_7832+64del)
c.1287+56_1287+64del
n.7918+56_7918+64del
gnomAD v4
19g.38502792_38502793insCGGGGCAGGGGCCA2814347091RYR1c.7835+65_7835+66insCGGGGCAGGGGC (n.7835+65_7835+66insCGGGGCAGGGGC)
c.7832+65_7832+66insCGGGGCAGGGGC (n.7832+65_7832+66insCGGGGCAGGGGC)
c.1287+65_1287+66insCGGGGCAGGGGC
n.7918+65_7918+66insCGGGGCAGGGGC
19g.38502782_38502815delCA2541113321RYR1c.7835+55_7836-65del (n.7835+55_7836-65del)
c.7832+55_7833-65del (n.7832+55_7833-65del)
c.1287+55_1288-65del
n.7918+55_7919-65del
gnomAD v3 gnomAD v4
19g.38502782_38502830delCA2814347093RYR1c.7835+55_7836-50del (n.7835+55_7836-50del)
c.7832+55_7833-50del (n.7832+55_7833-50del)
c.1287+55_1288-50del
n.7918+55_7919-50del
19g.38502782_38502783insCAGAGCCA995717903RYR1c.7835+55_7835+56insCAGAGC (n.7835+55_7835+56insCAGAGC)
c.7832+55_7832+56insCAGAGC (n.7832+55_7832+56insCAGAGC)
c.1287+55_1287+56insCAGAGC
n.7918+55_7918+56insCAGAGC
gnomAD v3 gnomAD v4
19g.38502783G>ACA882054077RYR1c.7835+56G>A (n.7835+56G>A)
c.7832+56G>A (n.7832+56G>A)
c.1287+56G>A
n.7918+56G>A
dbSNP gnomAD v4
19g.38502783G>CCA2584900752RYR1c.7835+56G>C (n.7835+56G>C)
c.7832+56G>C (n.7832+56G>C)
c.1287+56G>C
n.7918+56G>C
gnomAD v4
19g.38502783G=CA2335054589RYR1c.7835+56G= (n.7835+56G=)
c.7832+56G= (n.7832+56G=)
c.1287+56G=
n.7918+56G=
19g.38502783_38502786delCA633066269RYR1c.7835+56_7835+59del (n.7835+56_7835+59del)
c.7832+56_7832+59del (n.7832+56_7832+59del)
c.1287+56_1287+59del
n.7918+56_7918+59del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502783_38502792delCA995717911RYR1c.7835+56_7835+65del (n.7835+56_7835+65del)
c.7832+56_7832+65del (n.7832+56_7832+65del)
c.1287+56_1287+65del
n.7918+56_7918+65del
gnomAD v3 gnomAD v4
19g.38502783_38502798delCA633066268RYR1c.7835+56_7835+71del (n.7835+56_7835+71del)
c.7832+56_7832+71del (n.7832+56_7832+71del)
c.1287+56_1287+71del
n.7918+56_7918+71del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502799_38502800insTGGGCAGGGGCAGGGGCACA995717904RYR1c.7835+72_7835+73insTGGGCAGGGGCAGGGGCA (n.7835+72_7835+73insTGGGCAGGGGCAGGGGCA)
c.7832+72_7832+73insTGGGCAGGGGCAGGGGCA (n.7832+72_7832+73insTGGGCAGGGGCAGGGGCA)
c.1287+72_1287+73insTGGGCAGGGGCAGGGGCA
n.7918+72_7918+73insTGGGCAGGGGCAGGGGCA
dbSNP gnomAD v3 gnomAD v4
19g.38502783_38502804delCA2584900751RYR1c.7835+56_7836-76del (n.7835+56_7836-76del)
c.7832+56_7833-76del (n.7832+56_7833-76del)
c.1287+56_1288-76del
n.7918+56_7919-76del
gnomAD v4
19g.38502784_38502815delCA2584900753RYR1c.7835+57_7836-65del (n.7835+57_7836-65del)
c.7832+57_7833-65del (n.7832+57_7833-65del)
c.1287+57_1288-65del
n.7918+57_7919-65del
gnomAD v4
19g.38502784G>ACA308112864RYR1c.7835+57G>A (n.7835+57G>A)
c.7832+57G>A (n.7832+57G>A)
c.1287+57G>A
n.7918+57G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502784G=CA2335054590RYR1c.7835+57G= (n.7835+57G=)
c.7832+57G= (n.7832+57G=)
c.1287+57G=
n.7918+57G=
19g.38502784_38502786delCA995717921RYR1c.7835+57_7835+59del (n.7835+57_7835+59del)
c.7832+57_7832+59del (n.7832+57_7832+59del)
c.1287+57_1287+59del
n.7918+57_7918+59del
gnomAD v3 gnomAD v4
19g.38502794_38502795insCGGCAGGGGCAGCA2335054592RYR1c.7835+67_7835+68insCGGCAGGGGCAG (n.7835+67_7835+68insCGGCAGGGGCAG)
c.7832+67_7832+68insCGGCAGGGGCAG (n.7832+67_7832+68insCGGCAGGGGCAG)
c.1287+67_1287+68insCGGCAGGGGCAG
n.7918+67_7918+68insCGGCAGGGGCAG
dbSNP gnomAD v4
19g.38502806_38502807insAGGCAGGGGCAGGGGCAGGGGCAGCA995717918RYR1c.7836-74_7836-73insAGGCAGGGGCAGGGGCAGGGGCAG (n.7836-74_7836-73insAGGCAGGGGCAGGGGCAGGGGCAG)
c.7833-74_7833-73insAGGCAGGGGCAGGGGCAGGGGCAG (n.7833-74_7833-73insAGGCAGGGGCAGGGGCAGGGGCAG)
c.1288-74_1288-73insAGGCAGGGGCAGGGGCAGGGGCAG
n.7919-74_7919-73insAGGCAGGGGCAGGGGCAGGGGCAG
gnomAD v3 gnomAD v4
19g.38502784_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054591RYR1c.7835+57_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+57_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+57_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+57_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+57_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+57_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502785G>ACA2335054597RYR1c.7835+58G>A (n.7835+58G>A)
c.7832+58G>A (n.7832+58G>A)
c.1287+58G>A
n.7918+58G>A
dbSNP gnomAD v4
19g.38502785G=CA2335054596RYR1c.7835+58G= (n.7835+58G=)
c.7832+58G= (n.7832+58G=)
c.1287+58G=
n.7918+58G=
19g.38502785G>TCA995717925RYR1c.7835+58G>T (n.7835+58G>T)
c.7832+58G>T (n.7832+58G>T)
c.1287+58G>T
n.7918+58G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502785_38502786delCA2584900754RYR1c.7835+58_7835+59del (n.7835+58_7835+59del)
c.7832+58_7832+59del (n.7832+58_7832+59del)
c.1287+58_1287+59del
n.7918+58_7918+59del
gnomAD v4
19g.38502785_38502787delinsGCACA2335054595RYR1c.7835+58_7835+60delinsGCA (n.7835+58_7835+60delinsGCA)
c.7832+58_7832+60delinsGCA (n.7832+58_7832+60delinsGCA)
c.1287+58_1287+60delinsGCA
n.7918+58_7918+60delinsGCA
19g.38502789_38502790insAGCAGGCA2335054593RYR1c.7835+62_7835+63insAGCAGG (n.7835+62_7835+63insAGCAGG)
c.7832+62_7832+63insAGCAGG (n.7832+62_7832+63insAGCAGG)
c.1287+62_1287+63insAGCAGG
n.7918+62_7918+63insAGCAGG
dbSNP gnomAD v4
19g.38502791_38502792insGAGGAGCAGGGGCA2335054594RYR1c.7835+64_7835+65insGAGGAGCAGGGG (n.7835+64_7835+65insGAGGAGCAGGGG)
c.7832+64_7832+65insGAGGAGCAGGGG (n.7832+64_7832+65insGAGGAGCAGGGG)
c.1287+64_1287+65insGAGGAGCAGGGG
n.7918+64_7918+65insGAGGAGCAGGGG
dbSNP gnomAD v4
19g.38502795_38502796insAGCAGGGGCAGGCA633066270RYR1c.7835+68_7835+69insAGCAGGGGCAGG (n.7835+68_7835+69insAGCAGGGGCAGG)
c.7832+68_7832+69insAGCAGGGGCAGG (n.7832+68_7832+69insAGCAGGGGCAGG)
c.1287+68_1287+69insAGCAGGGGCAGG
n.7918+68_7918+69insAGCAGGGGCAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGAGCAGGGGCAGGGGCA2584900755RYR1c.7835+70_7835+71insGAGGAGCAGGGGCAGGGG (n.7835+70_7835+71insGAGGAGCAGGGGCAGGGG)
c.7832+70_7832+71insGAGGAGCAGGGGCAGGGG (n.7832+70_7832+71insGAGGAGCAGGGGCAGGGG)
c.1287+70_1287+71insGAGGAGCAGGGGCAGGGG
n.7918+70_7918+71insGAGGAGCAGGGGCAGGGG
gnomAD v4
19g.38502801_38502830delCA507353992RYR1c.7835+74_7836-50del (n.7835+74_7836-50del)
c.7832+74_7833-50del (n.7832+74_7833-50del)
c.1287+74_1288-50del
n.7918+74_7919-50del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502786C=CA2335054598RYR1c.7835+59C= (n.7835+59C=)
c.7832+59C= (n.7832+59C=)
c.1287+59C=
n.7918+59C=
19g.38502786C>GCA633066272RYR1c.7835+59C>G (n.7835+59C>G)
c.7832+59C>G (n.7832+59C>G)
c.1287+59C>G
n.7918+59C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502786C>TCA882054083RYR1c.7835+59C>T (n.7835+59C>T)
c.7832+59C>T (n.7832+59C>T)
c.1287+59C>T
n.7918+59C>T
dbSNP gnomAD v4
19g.38502786_38502787delCA633066271RYR1c.7835+59_7835+60del (n.7835+59_7835+60del)
c.7832+59_7832+60del (n.7832+59_7832+60del)
c.1287+59_1287+60del
n.7918+59_7918+60del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502790_38502791insACAGGGCA2584900757RYR1c.7835+63_7835+64insACAGGG (n.7835+63_7835+64insACAGGG)
c.7832+63_7832+64insACAGGG (n.7832+63_7832+64insACAGGG)
c.1287+63_1287+64insACAGGG
n.7918+63_7918+64insACAGGG
gnomAD v4
19g.38502796_38502797insACAGGGGCAGGGCA2584900756RYR1c.7835+69_7835+70insACAGGGGCAGGG (n.7835+69_7835+70insACAGGGGCAGGG)
c.7832+69_7832+70insACAGGGGCAGGG (n.7832+69_7832+70insACAGGGGCAGGG)
c.1287+69_1287+70insACAGGGGCAGGG
n.7918+69_7918+70insACAGGGGCAGGG
gnomAD v4
19g.38502802_38502803insACAGGGGCAGGGGCAGGGCA2814347112RYR1c.7835+75_7836-77insACAGGGGCAGGGGCAGGG (n.7835+75_7836-77insACAGGGGCAGGGGCAGGG)
c.7832+75_7833-77insACAGGGGCAGGGGCAGGG (n.7832+75_7833-77insACAGGGGCAGGGGCAGGG)
c.1287+75_1288-77insACAGGGGCAGGGGCAGGG
n.7918+75_7919-77insACAGGGGCAGGGGCAGGG
19g.38502786_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGGCA2335054599RYR1c.7835+59_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+59_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG)
c.7832+59_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+59_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG)
c.1287+59_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG
n.7918+59_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG
19g.38502786_38502787insCGGGGCAGGGGGCA2584900764RYR1c.7835+59_7835+60insCGGGGCAGGGGG (n.7835+59_7835+60insCGGGGCAGGGGG)
c.7832+59_7832+60insCGGGGCAGGGGG (n.7832+59_7832+60insCGGGGCAGGGGG)
c.1287+59_1287+60insCGGGGCAGGGGG
n.7918+59_7918+60insCGGGGCAGGGGG
gnomAD v4
19g.38502787A=CA2335054600RYR1c.7835+60A= (n.7835+60A=)
c.7832+60A= (n.7832+60A=)
c.1287+60A=
n.7918+60A=
19g.38502787A>CCA995717940RYR1c.7835+60A>C (n.7835+60A>C)
c.7832+60A>C (n.7832+60A>C)
c.1287+60A>C
n.7918+60A>C
gnomAD v3 gnomAD v4
19g.38502787A>GCA657360690RYR1c.7835+60A>G (n.7835+60A>G)
c.7832+60A>G (n.7832+60A>G)
c.1287+60A>G
n.7918+60A>G
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38502787A>TCA2335054601RYR1c.7835+60A>T (n.7835+60A>T)
c.7832+60A>T (n.7832+60A>T)
c.1287+60A>T
n.7918+60A>T
dbSNP gnomAD v4
19g.38502787_38502791delCA995717942RYR1c.7835+60_7835+64del (n.7835+60_7835+64del)
c.7832+60_7832+64del (n.7832+60_7832+64del)
c.1287+60_1287+64del
n.7918+60_7918+64del
gnomAD v3 gnomAD v4
19g.38502791_38502792insGAGGGGCA633066275RYR1c.7835+64_7835+65insGAGGGG (n.7835+64_7835+65insGAGGGG)
c.7832+64_7832+65insGAGGGG (n.7832+64_7832+65insGAGGGG)
c.1287+64_1287+65insGAGGGG
n.7918+64_7918+65insGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGCA882054093RYR1c.7835+64_7835+65insTAGGGG (n.7835+64_7835+65insTAGGGG)
c.7832+64_7832+65insTAGGGG (n.7832+64_7832+65insTAGGGG)
c.1287+64_1287+65insTAGGGG
n.7918+64_7918+65insTAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insGAGGGGAGGGGCA2584900760RYR1c.7835+64_7835+65insGAGGGGAGGGG (n.7835+64_7835+65insGAGGGGAGGGG)
c.7832+64_7832+65insGAGGGGAGGGG (n.7832+64_7832+65insGAGGGGAGGGG)
c.1287+64_1287+65insGAGGGGAGGGG
n.7918+64_7918+65insGAGGGGAGGGG
gnomAD v4
19g.38502791_38502792insGAGGGGGAGGGGCA920105599RYR1c.7835+64_7835+65insGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGG)
c.7832+64_7832+65insGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGG)
c.1287+64_1287+65insGAGGGGGAGGGG
n.7918+64_7918+65insGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insTAGGGGTAGGGGCA995717945RYR1c.7835+64_7835+65insTAGGGGTAGGGG (n.7835+64_7835+65insTAGGGGTAGGGG)
c.7832+64_7832+65insTAGGGGTAGGGG (n.7832+64_7832+65insTAGGGGTAGGGG)
c.1287+64_1287+65insTAGGGGTAGGGG
n.7918+64_7918+65insTAGGGGTAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insGAGGGGGAGGGGGAGGGGCA995717964RYR1c.7835+64_7835+65insGAGGGGGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGGGAGGGG)
c.7832+64_7832+65insGAGGGGGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGGGAGGGG)
c.1287+64_1287+65insGAGGGGGAGGGGGAGGGG
n.7918+64_7918+65insGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502791_38502792insGAGGGGGAGGGGGAGGGGGAGGGGCA2584900762RYR1c.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGG)
c.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGG)
c.1287+64_1287+65insGAGGGGGAGGGGGAGGGGGAGGGG
n.7918+64_7918+65insGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502791_38502792insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900763RYR1c.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1287+64_1287+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7918+64_7918+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502791_38502792insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCA2584900761RYR1c.7835+64_7835+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG)
c.7832+64_7832+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG)
c.1287+64_1287+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
n.7918+64_7918+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502797_38502798insGAGGGGCAGGGGCA995717966RYR1c.7835+70_7835+71insGAGGGGCAGGGG (n.7835+70_7835+71insGAGGGGCAGGGG)
c.7832+70_7832+71insGAGGGGCAGGGG (n.7832+70_7832+71insGAGGGGCAGGGG)
c.1287+70_1287+71insGAGGGGCAGGGG
n.7918+70_7918+71insGAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGCAGGGGCA2584900758RYR1c.7835+70_7835+71insGAGGGGGAGGGGCAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGCAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGGCAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGCAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGGCAGGGG
n.7918+70_7918+71insGAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGGAGGGGCAGGGGCA2584900759RYR1c.7835+70_7835+71insGAGGGGGAGGGGGAGGGGCAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGGCAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGGGAGGGGCAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGGCAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGGGAGGGGCAGGGG
n.7918+70_7918+71insGAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCAGGGGCA2584900778RYR1c.7836-77_7836-76insGAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502803_38502804insTAGGGGCAGGGGCAGGGGCA2814347131RYR1c.7836-77_7836-76insTAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGCAGGGGCAGGGG
19g.38502803_38502804insTAGGGGTAGGGGCAGGGGCAGGGGCA2814347130RYR1c.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGTAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGTAGGGGCAGGGGCAGGGG
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCA2584900779RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCA633066274RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900766RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900770RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900768RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGGCA2584900765RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900767RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2582145376RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900771RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900774RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900772RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900769RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900775RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCA2584900773RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGCA633066273RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGCA2584900776RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGCA2584900777RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG
gnomAD v4
19g.38502790_38502813dupCA995717969RYR1c.7835+63_7836-67dup (n.7835+63_7836-67dup)
c.7832+63_7833-67dup (n.7832+63_7833-67dup)
c.1287+63_1288-67dup
n.7918+63_7919-67dup
gnomAD v3 gnomAD v4
19g.38502790_38502813delCA995717941RYR1c.7835+63_7836-67del (n.7835+63_7836-67del)
c.7832+63_7833-67del (n.7832+63_7833-67del)
c.1287+63_1288-67del
n.7918+63_7919-67del
dbSNP gnomAD v3 gnomAD v4
19g.38502787_38502817delCA2814347126RYR1c.7835+60_7836-63del (n.7835+60_7836-63del)
c.7832+60_7833-63del (n.7832+60_7833-63del)
c.1287+60_1288-63del
n.7918+60_7919-63del
19g.38502787_38502820delCA2814347125RYR1c.7835+60_7836-60del (n.7835+60_7836-60del)
c.7832+60_7833-60del (n.7832+60_7833-60del)
c.1287+60_1288-60del
n.7918+60_7919-60del
19g.38502788G>ACA2584900781RYR1c.7835+61G>A (n.7835+61G>A)
c.7832+61G>A (n.7832+61G>A)
c.1287+61G>A
n.7918+61G>A
gnomAD v4
19g.38502789_38502790insCTTCAGGGTGGCA2335054607RYR1c.7835+62_7835+63insCTTCAGGGTGG (n.7835+62_7835+63insCTTCAGGGTGG)
c.7832+62_7832+63insCTTCAGGGTGG (n.7832+62_7832+63insCTTCAGGGTGG)
c.1287+62_1287+63insCTTCAGGGTGG
n.7918+62_7918+63insCTTCAGGGTGG
dbSNP
19g.38502790_38502791delCA995717977RYR1c.7835+63_7835+64del (n.7835+63_7835+64del)
c.7832+63_7832+64del (n.7832+63_7832+64del)
c.1287+63_1287+64del
n.7918+63_7918+64del
gnomAD v3 gnomAD v4
19g.38502789_38502791delCA995717979RYR1c.7835+62_7835+64del (n.7835+62_7835+64del)
c.7832+62_7832+64del (n.7832+62_7832+64del)
c.1287+62_1287+64del
n.7918+62_7918+64del
gnomAD v3 gnomAD v4
19g.38502788_38502792delCA2814347141RYR1c.7835+61_7835+65del (n.7835+61_7835+65del)
c.7832+61_7832+65del (n.7832+61_7832+65del)
c.1287+61_1287+65del
n.7918+61_7918+65del
19g.38502788_38502792delinsGGGGCCA2335054606RYR1c.7835+61_7835+65delinsGGGGC (n.7835+61_7835+65delinsGGGGC)
c.7832+61_7832+65delinsGGGGC (n.7832+61_7832+65delinsGGGGC)
c.1287+61_1287+65delinsGGGGC
n.7918+61_7918+65delinsGGGGC
19g.38502792_38502793insCGGGGCCA2584900783RYR1c.7835+65_7835+66insCGGGGC (n.7835+65_7835+66insCGGGGC)
c.7832+65_7832+66insCGGGGC (n.7832+65_7832+66insCGGGGC)
c.1287+65_1287+66insCGGGGC
n.7918+65_7918+66insCGGGGC
gnomAD v4
19g.38502791_38502797delCA2584900784RYR1c.7835+64_7835+70del (n.7835+64_7835+70del)
c.7832+64_7832+70del (n.7832+64_7832+70del)
c.1287+64_1287+70del
n.7918+64_7918+70del
gnomAD v4
19g.38502788_38502798delinsGGGGCAGGGGCCA2335054605RYR1c.7835+61_7835+71delinsGGGGCAGGGGC (n.7835+61_7835+71delinsGGGGCAGGGGC)
c.7832+61_7832+71delinsGGGGCAGGGGC (n.7832+61_7832+71delinsGGGGCAGGGGC)
c.1287+61_1287+71delinsGGGGCAGGGGC
n.7918+61_7918+71delinsGGGGCAGGGGC
19g.38502788_38502803delCA2584900780RYR1c.7835+61_7836-77del (n.7835+61_7836-77del)
c.7832+61_7833-77del (n.7832+61_7833-77del)
c.1287+61_1288-77del
n.7918+61_7919-77del
gnomAD v4
19g.38502788_38502804delinsGGGGCAGGGGCAGGGGCCA2335054602RYR1c.7835+61_7836-76delinsGGGGCAGGGGCAGGGGC (n.7835+61_7836-76delinsGGGGCAGGGGCAGGGGC)
c.7832+61_7833-76delinsGGGGCAGGGGCAGGGGC (n.7832+61_7833-76delinsGGGGCAGGGGCAGGGGC)
c.1287+61_1288-76delinsGGGGCAGGGGCAGGGGC
n.7918+61_7919-76delinsGGGGCAGGGGCAGGGGC
19g.38502788_38502814delinsGGGGCAGGGGCAGGGGCAGGGGGAGGACA2335054604RYR1c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+61_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+61_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502790_38502821delCA2584900782RYR1c.7835+63_7836-59del (n.7835+63_7836-59del)
c.7832+63_7833-59del (n.7832+63_7833-59del)
c.1287+63_1288-59del
n.7918+63_7919-59del
gnomAD v4
19g.38502788_38502822delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCCA2335054603RYR1c.7835+61_7836-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC (n.7835+61_7836-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC)
c.7832+61_7833-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC (n.7832+61_7833-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC)
c.1287+61_1288-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC
n.7918+61_7919-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC
19g.38502788_38502789insCACA2584900789RYR1c.7835+61_7835+62insCA (n.7835+61_7835+62insCA)
c.7832+61_7832+62insCA (n.7832+61_7832+62insCA)
c.1287+61_1287+62insCA
n.7918+61_7918+62insCA
gnomAD v4
19g.38502788_38502789insCAGAGCCA995718014RYR1c.7835+61_7835+62insCAGAGC (n.7835+61_7835+62insCAGAGC)
c.7832+61_7832+62insCAGAGC (n.7832+61_7832+62insCAGAGC)
c.1287+61_1287+62insCAGAGC
n.7918+61_7918+62insCAGAGC
gnomAD v3 gnomAD v4
19g.38502789G>ACA633066276RYR1c.7835+62G>A (n.7835+62G>A)
c.7832+62G>A (n.7832+62G>A)
c.1287+62G>A
n.7918+62G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502789G=CA2335054608RYR1c.7835+62G= (n.7835+62G=)
c.7832+62G= (n.7832+62G=)
c.1287+62G=
n.7918+62G=
19g.38502789G>TCA2576771123RYR1c.7835+62G>T (n.7835+62G>T)
c.7832+62G>T (n.7832+62G>T)
c.1287+62G>T
n.7918+62G>T
19g.38502789_38502792delCA633066278RYR1c.7835+62_7835+65del (n.7835+62_7835+65del)
c.7832+62_7832+65del (n.7832+62_7832+65del)
c.1287+62_1287+65del
n.7918+62_7918+65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502793_38502794insCGGGCACA2584900788RYR1c.7835+66_7835+67insCGGGCA (n.7835+66_7835+67insCGGGCA)
c.7832+66_7832+67insCGGGCA (n.7832+66_7832+67insCGGGCA)
c.1287+66_1287+67insCGGGCA
n.7918+66_7918+67insCGGGCA
gnomAD v4
19g.38502793_38502794insTGGGCACA2584900787RYR1c.7835+66_7835+67insTGGGCA (n.7835+66_7835+67insTGGGCA)
c.7832+66_7832+67insTGGGCA (n.7832+66_7832+67insTGGGCA)
c.1287+66_1287+67insTGGGCA
n.7918+66_7918+67insTGGGCA
gnomAD v4
19g.38502789_38502798delCA633066277RYR1c.7835+62_7835+71del (n.7835+62_7835+71del)
c.7832+62_7832+71del (n.7832+62_7832+71del)
c.1287+62_1287+71del
n.7918+62_7918+71del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502789_38502804delCA995718013RYR1c.7835+62_7836-76del (n.7835+62_7836-76del)
c.7832+62_7833-76del (n.7832+62_7833-76del)
c.1287+62_1288-76del
n.7918+62_7919-76del
dbSNP gnomAD v3 gnomAD v4
19g.38502790_38502815delCA995718011RYR1c.7835+63_7836-65del (n.7835+63_7836-65del)
c.7832+63_7833-65del (n.7832+63_7833-65del)
c.1287+63_1288-65del
n.7918+63_7919-65del
dbSNP gnomAD v3 gnomAD v4
19g.38502789_38502816delCA2584900786RYR1c.7835+62_7836-64del (n.7835+62_7836-64del)
c.7832+62_7833-64del (n.7832+62_7833-64del)
c.1287+62_1288-64del
n.7918+62_7919-64del
gnomAD v4
19g.38502789_38502822delCA995717994RYR1c.7835+62_7836-58del (n.7835+62_7836-58del)
c.7832+62_7833-58del (n.7832+62_7833-58del)
c.1287+62_1288-58del
n.7918+62_7919-58del
dbSNP gnomAD v3 gnomAD v4
19g.38502793_38502840delCA2584900785RYR1c.7835+66_7836-40del (n.7835+66_7836-40del)
c.7832+66_7833-40del (n.7832+66_7833-40del)
c.1287+66_1288-40del
n.7918+66_7919-40del
gnomAD v4
19g.38502790G>ACA882054099RYR1c.7835+63G>A (n.7835+63G>A)
c.7832+63G>A (n.7832+63G>A)
c.1287+63G>A
n.7918+63G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502790G>CCA882054100RYR1c.7835+63G>C (n.7835+63G>C)
c.7832+63G>C (n.7832+63G>C)
c.1287+63G>C
n.7918+63G>C
dbSNP
19g.38502790G=CA2335054609RYR1c.7835+63G= (n.7835+63G=)
c.7832+63G= (n.7832+63G=)
c.1287+63G=
n.7918+63G=
19g.38502790_38502792delCA995718019RYR1c.7835+63_7835+65del (n.7835+63_7835+65del)
c.7832+63_7832+65del (n.7832+63_7832+65del)
c.1287+63_1287+65del
n.7918+63_7918+65del
gnomAD v3 gnomAD v4
19g.38502794_38502795insAGGCAGCA995718018RYR1c.7835+67_7835+68insAGGCAG (n.7835+67_7835+68insAGGCAG)
c.7832+67_7832+68insAGGCAG (n.7832+67_7832+68insAGGCAG)
c.1287+67_1287+68insAGGCAG
n.7918+67_7918+68insAGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502800_38502801insAGGCAGGGGCAGCA2584900790RYR1c.7835+73_7835+74insAGGCAGGGGCAG (n.7835+73_7835+74insAGGCAGGGGCAG)
c.7832+73_7832+74insAGGCAGGGGCAG (n.7832+73_7832+74insAGGCAGGGGCAG)
c.1287+73_1287+74insAGGCAGGGGCAG
n.7918+73_7918+74insAGGCAGGGGCAG
gnomAD v4
19g.38502790_38502814delinsGGCAGGGGCAGGGGCAGGGGGAGGACA2335054610RYR1c.7835+63_7836-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+63_7836-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA)
c.7832+63_7833-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+63_7833-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA)
c.1287+63_1288-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA
n.7918+63_7919-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA
19g.38502791G>ACA882054102RYR1c.7835+64G>A (n.7835+64G>A)
c.7832+64G>A (n.7832+64G>A)
c.1287+64G>A
n.7918+64G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502791G>CCA882054108RYR1c.7835+64G>C (n.7835+64G>C)
c.7832+64G>C (n.7832+64G>C)
c.1287+64G>C
n.7918+64G>C
dbSNP
19g.38502791G=CA2335054611RYR1c.7835+64G= (n.7835+64G=)
c.7832+64G= (n.7832+64G=)
c.1287+64G=
n.7918+64G=
19g.38502791G>TCA2584900791RYR1c.7835+64G>T (n.7835+64G>T)
c.7832+64G>T (n.7832+64G>T)
c.1287+64G>T
n.7918+64G>T
gnomAD v4
19g.38502791_38502792insGAGGAGCA2554350049RYR1c.7835+64_7835+65insGAGGAG (n.7835+64_7835+65insGAGGAG)
c.7832+64_7832+65insGAGGAG (n.7832+64_7832+65insGAGGAG)
c.1287+64_1287+65insGAGGAG
n.7918+64_7918+65insGAGGAG
gnomAD v4
19g.38502791_38502792delCA2584900793RYR1c.7835+64_7835+65del (n.7835+64_7835+65del)
c.7832+64_7832+65del (n.7832+64_7832+65del)
c.1287+64_1287+65del
n.7918+64_7918+65del
gnomAD v4
19g.38502791_38502793delinsGCACA2335054612RYR1c.7835+64_7835+66delinsGCA (n.7835+64_7835+66delinsGCA)
c.7832+64_7832+66delinsGCA (n.7832+64_7832+66delinsGCA)
c.1287+64_1287+66delinsGCA
n.7918+64_7918+66delinsGCA
19g.38502795_38502796insCGCAGGCA995718020RYR1c.7835+68_7835+69insCGCAGG (n.7835+68_7835+69insCGCAGG)
c.7832+68_7832+69insCGCAGG (n.7832+68_7832+69insCGCAGG)
c.1287+68_1287+69insCGCAGG
n.7918+68_7918+69insCGCAGG
gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGAGCAGGGGCA995718021RYR1c.7835+70_7835+71insGAGGAGCAGGGG (n.7835+70_7835+71insGAGGAGCAGGGG)
c.7832+70_7832+71insGAGGAGCAGGGG (n.7832+70_7832+71insGAGGAGCAGGGG)
c.1287+70_1287+71insGAGGAGCAGGGG
n.7918+70_7918+71insGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGAGCAGGGGCAGGGGCA2582145377RYR1c.7836-77_7836-76insGAGGAGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGAGCAGGGGCAGGGG)
c.7833-77_7833-76insGAGGAGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGAGCAGGGGCAGGGG)
c.1288-77_1288-76insGAGGAGCAGGGGCAGGGG
n.7919-77_7919-76insGAGGAGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCA2582145378RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCA2584900794RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCA2584900795RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502807_38502830dupCA633066279RYR1c.7836-73_7836-50dup (n.7836-73_7836-50dup)
c.7833-73_7833-50dup (n.7833-73_7833-50dup)
c.1288-73_1288-50dup
n.7919-73_7919-50dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502807_38502830delCA507353993RYR1c.7836-73_7836-50del (n.7836-73_7836-50del)
c.7833-73_7833-50del (n.7833-73_7833-50del)
c.1288-73_1288-50del
n.7919-73_7919-50del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502792_38502833delCA2584900792RYR1c.7835+65_7836-47del (n.7835+65_7836-47del)
c.7832+65_7833-47del (n.7832+65_7833-47del)
c.1287+65_1288-47del
n.7918+65_7919-47del
gnomAD v4
19g.38502792C>ACA2335054616RYR1c.7835+65C>A (n.7835+65C>A)
c.7832+65C>A (n.7832+65C>A)
c.1287+65C>A
n.7918+65C>A
dbSNP
19g.38502792C=CA2335054614RYR1c.7835+65C= (n.7835+65C=)
c.7832+65C= (n.7832+65C=)
c.1287+65C=
n.7918+65C=
19g.38502792C>GCA308112866RYR1c.7835+65C>G (n.7835+65C>G)
c.7832+65C>G (n.7832+65C>G)
c.1287+65C>G
n.7918+65C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502792C>TCA882054115RYR1c.7835+65C>T (n.7835+65C>T)
c.7832+65C>T (n.7832+65C>T)
c.1287+65C>T
n.7918+65C>T
dbSNP gnomAD v3 gnomAD v4
19g.38502792_38502793delCA633066280RYR1c.7835+65_7835+66del (n.7835+65_7835+66del)
c.7832+65_7832+66del (n.7832+65_7832+66del)
c.1287+65_1287+66del
n.7918+65_7918+66del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502792_38502798delCA2576771124RYR1c.7835+65_7835+71del (n.7835+65_7835+71del)
c.7832+65_7832+71del (n.7832+65_7832+71del)
c.1287+65_1287+71del
n.7918+65_7918+71del
19g.38502792_38502808delinsCAGGGGCAGGGGCAGGGCA2335054613RYR1c.7835+65_7836-72delinsCAGGGGCAGGGGCAGGG (n.7835+65_7836-72delinsCAGGGGCAGGGGCAGGG)
c.7832+65_7833-72delinsCAGGGGCAGGGGCAGGG (n.7832+65_7833-72delinsCAGGGGCAGGGGCAGGG)
c.1287+65_1288-72delinsCAGGGGCAGGGGCAGGG
n.7918+65_7919-72delinsCAGGGGCAGGGGCAGGG
19g.38502792_38502810delinsCAGGGGCAGGGGCAGGGGGCA2335054615RYR1c.7835+65_7836-70delinsCAGGGGCAGGGGCAGGGGG (n.7835+65_7836-70delinsCAGGGGCAGGGGCAGGGGG)
c.7832+65_7833-70delinsCAGGGGCAGGGGCAGGGGG (n.7832+65_7833-70delinsCAGGGGCAGGGGCAGGGGG)
c.1287+65_1288-70delinsCAGGGGCAGGGGCAGGGGG
n.7918+65_7919-70delinsCAGGGGCAGGGGCAGGGGG
19g.38502793delCA2814347171RYR1c.7835+66del (n.7835+66del)
c.7832+66del (n.7832+66del)
c.1287+66del
n.7918+66del
19g.38502793A=CA2335054619RYR1c.7835+66A= (n.7835+66A=)
c.7832+66A= (n.7832+66A=)
c.1287+66A=
n.7918+66A=
19g.38502793A>CCA2584900802RYR1c.7835+66A>C (n.7835+66A>C)
c.7832+66A>C (n.7832+66A>C)
c.1287+66A>C
n.7918+66A>C
gnomAD v4
19g.38502793A>GCA882054123RYR1c.7835+66A>G (n.7835+66A>G)
c.7832+66A>G (n.7832+66A>G)
c.1287+66A>G
n.7918+66A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502793A>TCA995718053RYR1c.7835+66A>T (n.7835+66A>T)
c.7832+66A>T (n.7832+66A>T)
c.1287+66A>T
n.7918+66A>T
dbSNP gnomAD v3 gnomAD v4
19g.38502793_38502796delinsAGGGCA2335054618RYR1c.7835+66_7835+69delinsAGGG (n.7835+66_7835+69delinsAGGG)
c.7832+66_7832+69delinsAGGG (n.7832+66_7832+69delinsAGGG)
c.1287+66_1287+69delinsAGGG
n.7918+66_7918+69delinsAGGG
19g.38502796_38502797insACAGGGGGAGGGGGAGGGCA995718073RYR1c.7835+69_7835+70insACAGGGGGAGGGGGAGGG (n.7835+69_7835+70insACAGGGGGAGGGGGAGGG)
c.7832+69_7832+70insACAGGGGGAGGGGGAGGG (n.7832+69_7832+70insACAGGGGGAGGGGGAGGG)
c.1287+69_1287+70insACAGGGGGAGGGGGAGGG
n.7918+69_7918+70insACAGGGGGAGGGGGAGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502796_38502797insACAGGGGGAGGGGGAGGGGGAGGGGGAGGGCA2584900804RYR1c.7835+69_7835+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG (n.7835+69_7835+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG)
c.7832+69_7832+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG (n.7832+69_7832+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG)
c.1287+69_1287+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG
n.7918+69_7918+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG
gnomAD v4
19g.38502793_38502797delCA2584900800RYR1c.7835+66_7835+70del (n.7835+66_7835+70del)
c.7832+66_7832+70del (n.7832+66_7832+70del)
c.1287+66_1287+70del
n.7918+66_7918+70del
gnomAD v4
19g.38502797_38502798insGAGGGGCA633066282RYR1c.7835+70_7835+71insGAGGGG (n.7835+70_7835+71insGAGGGG)
c.7832+70_7832+71insGAGGGG (n.7832+70_7832+71insGAGGGG)
c.1287+70_1287+71insGAGGGG
n.7918+70_7918+71insGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502798insTAGGGGCA2582145379RYR1c.7835+70_7835+71insTAGGGG (n.7835+70_7835+71insTAGGGG)
c.7832+70_7832+71insTAGGGG (n.7832+70_7832+71insTAGGGG)
c.1287+70_1287+71insTAGGGG
n.7918+70_7918+71insTAGGGG
gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGAGGGAGGGGCA2584900803RYR1c.7835+70_7835+71insGAGAGGGAGGGG (n.7835+70_7835+71insGAGAGGGAGGGG)
c.7832+70_7832+71insGAGAGGGAGGGG (n.7832+70_7832+71insGAGAGGGAGGGG)
c.1287+70_1287+71insGAGAGGGAGGGG
n.7918+70_7918+71insGAGAGGGAGGGG
gnomAD v4
19g.38502797_38502798insGAGGAGGAGGGGCA995718058RYR1c.7835+70_7835+71insGAGGAGGAGGGG (n.7835+70_7835+71insGAGGAGGAGGGG)
c.7832+70_7832+71insGAGGAGGAGGGG (n.7832+70_7832+71insGAGGAGGAGGGG)
c.1287+70_1287+71insGAGGAGGAGGGG
n.7918+70_7918+71insGAGGAGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGCA633066283RYR1c.7835+70_7835+71insGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGGAGGGGCA633066284RYR1c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGGGGAGGTGGAGGGGGAGGGGCA2584900799RYR1c.7835+70_7835+71insGAGGGGGAGGTGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGTGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGGAGGTGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGTGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGGAGGTGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGGAGGTGGAGGGGGAGGGG
gnomAD v4
19g.38502797_38502798insGAGGGGCAGGGGGAGGGGGAGGGGCA2584900796RYR1c.7835+70_7835+71insGAGGGGCAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGCAGGGGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGCAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGCAGGGGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGCAGGGGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGGAGGGGGAGGGGCA920105606RYR1c.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2584900798RYR1c.7835+70_7835+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502797_38502798insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900797RYR1c.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502797_38502798insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900807RYR1c.7835+70_7835+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7832+70_7832+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1287+70_1287+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7918+70_7918+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCA995718064RYR1c.7836-77_7836-76insGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insTAGGGGCAGGGGCA995718062RYR1c.7836-77_7836-76insTAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGG)
c.7833-77_7833-76insTAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGG)
c.1288-77_1288-76insTAGGGGCAGGGG
n.7919-77_7919-76insTAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGCAGGGGCA995718056RYR1c.7836-77_7836-76insGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGCAGGGGCA2582145381RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2582145380RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2584900809RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCA2584900808RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502793_38502805delCA2814347164RYR1c.7835+66_7836-75del (n.7835+66_7836-75del)
c.7832+66_7833-75del (n.7832+66_7833-75del)
c.1287+66_1288-75del
n.7918+66_7919-75del
19g.38502793_38502808delCA995718033RYR1c.7835+66_7836-72del (n.7835+66_7836-72del)
c.7832+66_7833-72del (n.7832+66_7833-72del)
c.1287+66_1288-72del
n.7918+66_7919-72del
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGCAGGGGCA995718072RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGTAGGGGCAGGGGCAGGGGCA2584900806RYR1c.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGTAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGTAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCA2569944801RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCA2584900805RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502796_38502813dupCA995718070RYR1c.7835+69_7836-67dup (n.7835+69_7836-67dup)
c.7832+69_7833-67dup (n.7832+69_7833-67dup)
c.1287+69_1288-67dup
n.7918+69_7919-67dup
dbSNP gnomAD v3 gnomAD v4
19g.38502796_38502813delCA633066281RYR1c.7835+69_7836-67del (n.7835+69_7836-67del)
c.7832+69_7833-67del (n.7832+69_7833-67del)
c.1287+69_1288-67del
n.7918+69_7919-67del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502793_38502817delCA2814347163RYR1c.7835+66_7836-63del (n.7835+66_7836-63del)
c.7832+66_7833-63del (n.7832+66_7833-63del)
c.1287+66_1288-63del
n.7918+66_7919-63del
19g.38502793_38502820delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGGCA2335054617RYR1c.7835+66_7836-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG (n.7835+66_7836-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG)
c.7832+66_7833-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG (n.7832+66_7833-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG)
c.1287+66_1288-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG
n.7918+66_7919-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG
19g.38502793_38502823delCA2814347162RYR1c.7835+66_7836-57del (n.7835+66_7836-57del)
c.7832+66_7833-57del (n.7832+66_7833-57del)
c.1287+66_1288-57del
n.7918+66_7919-57del
19g.38502793_38502825delCA2584900801RYR1c.7835+66_7836-55del (n.7835+66_7836-55del)
c.7832+66_7833-55del (n.7832+66_7833-55del)
c.1287+66_1288-55del
n.7918+66_7919-55del
gnomAD v4
19g.38502794G>ACA2335054622RYR1c.7835+67G>A (n.7835+67G>A)
c.7832+67G>A (n.7832+67G>A)
c.1287+67G>A
n.7918+67G>A
dbSNP gnomAD v4
19g.38502794G>CCA2335054621RYR1c.7835+67G>C (n.7835+67G>C)
c.7832+67G>C (n.7832+67G>C)
c.1287+67G>C
n.7918+67G>C
dbSNP gnomAD v4
19g.38502794G=CA2335054620RYR1c.7835+67G= (n.7835+67G=)
c.7832+67G= (n.7832+67G=)
c.1287+67G=
n.7918+67G=
19g.38502794G>TCA2584900810RYR1c.7835+67G>T (n.7835+67G>T)
c.7832+67G>T (n.7832+67G>T)
c.1287+67G>T
n.7918+67G>T
gnomAD v4
19g.38502797_38502798insGAGGGGGGGGGGCA2814347181RYR1c.7835+70_7835+71insGAGGGGGGGGGG (n.7835+70_7835+71insGAGGGGGGGGGG)
c.7832+70_7832+71insGAGGGGGGGGGG (n.7832+70_7832+71insGAGGGGGGGGGG)
c.1287+70_1287+71insGAGGGGGGGGGG
n.7918+70_7918+71insGAGGGGGGGGGG
19g.38502797delCA2814347180RYR1c.7835+70del (n.7835+70del)
c.7832+70del (n.7832+70del)
c.1287+70del
n.7918+70del
19g.38502795_38502797delCA633066285RYR1c.7835+68_7835+70del (n.7835+68_7835+70del)
c.7832+68_7832+70del (n.7832+68_7832+70del)
c.1287+68_1287+70del
n.7918+68_7918+70del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502794_38502798delCA2584900814RYR1c.7835+67_7835+71del (n.7835+67_7835+71del)
c.7832+67_7832+71del (n.7832+67_7832+71del)
c.1287+67_1287+71del
n.7918+67_7918+71del
dbSNP gnomAD v4
19g.38502794_38502798delinsGGGGCCA2335054625RYR1c.7835+67_7835+71delinsGGGGC (n.7835+67_7835+71delinsGGGGC)
c.7832+67_7832+71delinsGGGGC (n.7832+67_7832+71delinsGGGGC)
c.1287+67_1287+71delinsGGGGC
n.7918+67_7918+71delinsGGGGC
19g.38502798_38502799insCGGGGCCA2584900815RYR1c.7835+71_7835+72insCGGGGC (n.7835+71_7835+72insCGGGGC)
c.7832+71_7832+72insCGGGGC (n.7832+71_7832+72insCGGGGC)
c.1287+71_1287+72insCGGGGC
n.7918+71_7918+72insCGGGGC
gnomAD v4
19g.38502795_38502803delCA2584900813RYR1c.7835+68_7836-77del (n.7835+68_7836-77del)
c.7832+68_7833-77del (n.7832+68_7833-77del)
c.1287+68_1288-77del
n.7918+68_7919-77del
gnomAD v4
19g.38502794_38502804delinsGGGGCAGGGGCCA2335054624RYR1c.7835+67_7836-76delinsGGGGCAGGGGC (n.7835+67_7836-76delinsGGGGCAGGGGC)
c.7832+67_7833-76delinsGGGGCAGGGGC (n.7832+67_7833-76delinsGGGGCAGGGGC)
c.1287+67_1288-76delinsGGGGCAGGGGC
n.7918+67_7919-76delinsGGGGCAGGGGC
19g.38502804_38502805insCGGGGCAGGGGCCA2584900816RYR1c.7836-76_7836-75insCGGGGCAGGGGC (n.7836-76_7836-75insCGGGGCAGGGGC)
c.7833-76_7833-75insCGGGGCAGGGGC (n.7833-76_7833-75insCGGGGCAGGGGC)
c.1288-76_1288-75insCGGGGCAGGGGC
n.7919-76_7919-75insCGGGGCAGGGGC
gnomAD v4
19g.38502809_38502810insCTGGGGCAGGGGCAGGGGCA2814347182RYR1c.7836-71_7836-70insCTGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCTGGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCTGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCTGGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCTGGGGCAGGGGCAGGGG
n.7919-71_7919-70insCTGGGGCAGGGGCAGGGG
19g.38502796_38502810delCA2539088332RYR1c.7835+69_7836-70del (n.7835+69_7836-70del)
c.7832+69_7833-70del (n.7832+69_7833-70del)
c.1287+69_1288-70del
n.7918+69_7919-70del
gnomAD v4
19g.38502795_38502810delCA2584900812RYR1c.7835+68_7836-70del (n.7835+68_7836-70del)
c.7832+68_7833-70del (n.7832+68_7833-70del)
c.1287+68_1288-70del
n.7918+68_7919-70del
gnomAD v4
19g.38502794_38502814delinsGGGGCAGGGGCAGGGGGAGGACA2335054623RYR1c.7835+67_7836-66delinsGGGGCAGGGGCAGGGGGAGGA (n.7835+67_7836-66delinsGGGGCAGGGGCAGGGGGAGGA)
c.7832+67_7833-66delinsGGGGCAGGGGCAGGGGGAGGA (n.7832+67_7833-66delinsGGGGCAGGGGCAGGGGGAGGA)
c.1287+67_1288-66delinsGGGGCAGGGGCAGGGGGAGGA
n.7918+67_7919-66delinsGGGGCAGGGGCAGGGGGAGGA
19g.38502795_38502821delCA995718092RYR1c.7835+68_7836-59del (n.7835+68_7836-59del)
c.7832+68_7833-59del (n.7832+68_7833-59del)
c.1287+68_1288-59del
n.7918+68_7919-59del
dbSNP gnomAD v3 gnomAD v4
19g.38502794_38502827delCA2584900811RYR1c.7835+67_7836-53del (n.7835+67_7836-53del)
c.7832+67_7833-53del (n.7832+67_7833-53del)
c.1287+67_1288-53del
n.7918+67_7919-53del
gnomAD v4
19g.38502794_38502795insCACA995718105RYR1c.7835+67_7835+68insCA (n.7835+67_7835+68insCA)
c.7832+67_7832+68insCA (n.7832+67_7832+68insCA)
c.1287+67_1287+68insCA
n.7918+67_7918+68insCA
gnomAD v3 gnomAD v4
19g.38502794_38502795insCAGAGCCA633066287RYR1c.7835+67_7835+68insCAGAGC (n.7835+67_7835+68insCAGAGC)
c.7832+67_7832+68insCAGAGC (n.7832+67_7832+68insCAGAGC)
c.1287+67_1287+68insCAGAGC
n.7918+67_7918+68insCAGAGC
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502795G>ACA633066286RYR1c.7835+68G>A (n.7835+68G>A)
c.7832+68G>A (n.7832+68G>A)
c.1287+68G>A
n.7918+68G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502795G>CCA2335054628RYR1c.7835+68G>C (n.7835+68G>C)
c.7832+68G>C (n.7832+68G>C)
c.1287+68G>C
n.7918+68G>C
dbSNP gnomAD v4
19g.38502795G=CA2335054626RYR1c.7835+68G= (n.7835+68G=)
c.7832+68G= (n.7832+68G=)
c.1287+68G=
n.7918+68G=
19g.38502795G>TCA2584900817RYR1c.7835+68G>T (n.7835+68G>T)
c.7832+68G>T (n.7832+68G>T)
c.1287+68G>T
n.7918+68G>T
gnomAD v4
19g.38502795_38502798delCA308112886RYR1c.7835+68_7835+71del (n.7835+68_7835+71del)
c.7832+68_7832+71del (n.7832+68_7832+71del)
c.1287+68_1287+71del
n.7918+68_7918+71del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502795_38502798delinsGGGCCA2335054627RYR1c.7835+68_7835+71delinsGGGC (n.7835+68_7835+71delinsGGGC)
c.7832+68_7832+71delinsGGGC (n.7832+68_7832+71delinsGGGC)
c.1287+68_1287+71delinsGGGC
n.7918+68_7918+71delinsGGGC
19g.38502799_38502800insCGGGCACA2335054629RYR1c.7835+72_7835+73insCGGGCA (n.7835+72_7835+73insCGGGCA)
c.7832+72_7832+73insCGGGCA (n.7832+72_7832+73insCGGGCA)
c.1287+72_1287+73insCGGGCA
n.7918+72_7918+73insCGGGCA
dbSNP gnomAD v4
19g.38502795_38502804delCA633066288RYR1c.7835+68_7836-76del (n.7835+68_7836-76del)
c.7832+68_7833-76del (n.7832+68_7833-76del)
c.1287+68_1288-76del
n.7918+68_7919-76del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCACGGGCAGGGGCAGGGGCA995718115RYR1c.7836-71_7836-70insCACGGGCAGGGGCAGGGG (n.7836-71_7836-70insCACGGGCAGGGGCAGGGG)
c.7833-71_7833-70insCACGGGCAGGGGCAGGGG (n.7833-71_7833-70insCACGGGCAGGGGCAGGGG)
c.1288-71_1288-70insCACGGGCAGGGGCAGGGG
n.7919-71_7919-70insCACGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502796_38502815delCA633066289RYR1c.7835+69_7836-65del (n.7835+69_7836-65del)
c.7832+69_7833-65del (n.7832+69_7833-65del)
c.1287+69_1288-65del
n.7918+69_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502795_38502816delCA995718119RYR1c.7835+68_7836-64del (n.7835+68_7836-64del)
c.7832+68_7833-64del (n.7832+68_7833-64del)
c.1287+68_1288-64del
n.7918+68_7919-64del
gnomAD v3 gnomAD v4
19g.38502795_38502822delCA2584900818RYR1c.7835+68_7836-58del (n.7835+68_7836-58del)
c.7832+68_7833-58del (n.7832+68_7833-58del)
c.1287+68_1288-58del
n.7918+68_7919-58del
gnomAD v4
19g.38502796G>ACA633066291RYR1c.7835+69G>A (n.7835+69G>A)
c.7832+69G>A (n.7832+69G>A)
c.1287+69G>A
n.7918+69G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502796G=CA2335054630RYR1c.7835+69G= (n.7835+69G=)
c.7832+69G= (n.7832+69G=)
c.1287+69G=
n.7918+69G=
19g.38502796_38502798delCA633066290RYR1c.7835+69_7835+71del (n.7835+69_7835+71del)
c.7832+69_7832+71del (n.7832+69_7832+71del)
c.1287+69_1287+71del
n.7918+69_7918+71del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502796_38502798delinsGGCCA2335054633RYR1c.7835+69_7835+71delinsGGC (n.7835+69_7835+71delinsGGC)
c.7832+69_7832+71delinsGGC (n.7832+69_7832+71delinsGGC)
c.1287+69_1287+71delinsGGC
n.7918+69_7918+71delinsGGC
19g.38502796_38502799delinsGGCACA2335054632RYR1c.7835+69_7835+72delinsGGCA (n.7835+69_7835+72delinsGGCA)
c.7832+69_7832+72delinsGGCA (n.7832+69_7832+72delinsGGCA)
c.1287+69_1287+72delinsGGCA
n.7918+69_7918+72delinsGGCA
19g.38502800_38502801insTGGCAGCA995718125RYR1c.7835+73_7835+74insTGGCAG (n.7835+73_7835+74insTGGCAG)
c.7832+73_7832+74insTGGCAG (n.7832+73_7832+74insTGGCAG)
c.1287+73_1287+74insTGGCAG
n.7918+73_7918+74insTGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502796_38502805delinsGGCAGGGGCACA2335054631RYR1c.7835+69_7836-75delinsGGCAGGGGCA (n.7835+69_7836-75delinsGGCAGGGGCA)
c.7832+69_7833-75delinsGGCAGGGGCA (n.7832+69_7833-75delinsGGCAGGGGCA)
c.1287+69_1288-75delinsGGCAGGGGCA
n.7918+69_7919-75delinsGGCAGGGGCA
19g.38502796_38502814delinsGGCAGGGGCAGGGGGAGGACA2335054634RYR1c.7835+69_7836-66delinsGGCAGGGGCAGGGGGAGGA (n.7835+69_7836-66delinsGGCAGGGGCAGGGGGAGGA)
c.7832+69_7833-66delinsGGCAGGGGCAGGGGGAGGA (n.7832+69_7833-66delinsGGCAGGGGCAGGGGGAGGA)
c.1287+69_1288-66delinsGGCAGGGGCAGGGGGAGGA
n.7918+69_7919-66delinsGGCAGGGGCAGGGGGAGGA
19g.38502796_38502831delCA2584900819RYR1c.7835+69_7836-49del (n.7835+69_7836-49del)
c.7832+69_7833-49del (n.7832+69_7833-49del)
c.1287+69_1288-49del
n.7918+69_7919-49del
gnomAD v4
19g.38502797G>ACA2335054636RYR1c.7835+70G>A (n.7835+70G>A)
c.7832+70G>A (n.7832+70G>A)
c.1287+70G>A
n.7918+70G>A
dbSNP gnomAD v4
19g.38502797G=CA2335054637RYR1c.7835+70G= (n.7835+70G=)
c.7832+70G= (n.7832+70G=)
c.1287+70G=
n.7918+70G=
19g.38502797_38502798insGAGGAGCA995718132RYR1c.7835+70_7835+71insGAGGAG (n.7835+70_7835+71insGAGGAG)
c.7832+70_7832+71insGAGGAG (n.7832+70_7832+71insGAGGAG)
c.1287+70_1287+71insGAGGAG
n.7918+70_7918+71insGAGGAG
gnomAD v3 gnomAD v4
19g.38502797_38502798delCA633066292RYR1c.7835+70_7835+71del (n.7835+70_7835+71del)
c.7832+70_7832+71del (n.7832+70_7832+71del)
c.1287+70_1287+71del
n.7918+70_7918+71del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502797_38502799delinsGCACA2335054638RYR1c.7835+70_7835+72delinsGCA (n.7835+70_7835+72delinsGCA)
c.7832+70_7832+72delinsGCA (n.7832+70_7832+72delinsGCA)
c.1287+70_1287+72delinsGCA
n.7918+70_7918+72delinsGCA
19g.38502798_38502800delCA2335054639RYR1c.7835+71_7835+73del (n.7835+71_7835+73del)
c.7832+71_7832+73del (n.7832+71_7832+73del)
c.1287+71_1287+73del
n.7918+71_7918+73del
dbSNP
19g.38502801_38502802insAGCAGGCA914324678RYR1c.7835+74_7835+75insAGCAGG (n.7835+74_7835+75insAGCAGG)
c.7832+74_7832+75insAGCAGG (n.7832+74_7832+75insAGCAGG)
c.1287+74_1287+75insAGCAGG
n.7918+74_7918+75insAGCAGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGAGCAGGGGCA995718133RYR1c.7836-77_7836-76insGAGGAGCAGGGG (n.7836-77_7836-76insGAGGAGCAGGGG)
c.7833-77_7833-76insGAGGAGCAGGGG (n.7833-77_7833-76insGAGGAGCAGGGG)
c.1288-77_1288-76insGAGGAGCAGGGG
n.7919-77_7919-76insGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502798_38502806delCA2335054635RYR1c.7835+71_7836-74del (n.7835+71_7836-74del)
c.7832+71_7833-74del (n.7832+71_7833-74del)
c.1287+71_1288-74del
n.7918+71_7919-74del
dbSNP
19g.38502807_38502808insAGCAGGGGCAGGCA2584900823RYR1c.7836-73_7836-72insAGCAGGGGCAGG (n.7836-73_7836-72insAGCAGGGGCAGG)
c.7833-73_7833-72insAGCAGGGGCAGG (n.7833-73_7833-72insAGCAGGGGCAGG)
c.1288-73_1288-72insAGCAGGGGCAGG
n.7919-73_7919-72insAGCAGGGGCAGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGCA995718134RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCA995718136RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCA2584900821RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCA2584900820RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCA2584900822RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG
gnomAD v4
19g.38502810_38502827dupCA633066293RYR1c.7836-70_7836-53dup (n.7836-70_7836-53dup)
c.7833-70_7833-53dup (n.7833-70_7833-53dup)
c.1288-70_1288-53dup
n.7919-70_7919-53dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810_38502827delCA507353994RYR1c.7836-70_7836-53del (n.7836-70_7836-53del)
c.7833-70_7833-53del (n.7833-70_7833-53del)
c.1288-70_1288-53del
n.7919-70_7919-53del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502798delCA995718145RYR1c.7835+71del (n.7835+71del)
c.7832+71del (n.7832+71del)
c.1287+71del
n.7918+71del
gnomAD v3 gnomAD v4
19g.38502798C>ACA2584900825RYR1c.7835+71C>A (n.7835+71C>A)
c.7832+71C>A (n.7832+71C>A)
c.1287+71C>A
n.7918+71C>A
gnomAD v4
19g.38502798C=CA2335054640RYR1c.7835+71C= (n.7835+71C=)
c.7832+71C= (n.7832+71C=)
c.1287+71C=
n.7918+71C=
19g.38502798C>GCA308112890RYR1c.7835+71C>G (n.7835+71C>G)
c.7832+71C>G (n.7832+71C>G)
c.1287+71C>G
n.7918+71C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502798C>TCA882054142RYR1c.7835+71C>T (n.7835+71C>T)
c.7832+71C>T (n.7832+71C>T)
c.1287+71C>T
n.7918+71C>T
dbSNP gnomAD v3 gnomAD v4
19g.38502798_38502799delCA633066294RYR1c.7835+71_7835+72del (n.7835+71_7835+72del)
c.7832+71_7832+72del (n.7832+71_7832+72del)
c.1287+71_1287+72del
n.7918+71_7918+72del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502802_38502803insACAGGGCA2584900824RYR1c.7835+75_7836-77insACAGGG (n.7835+75_7836-77insACAGGG)
c.7832+75_7833-77insACAGGG (n.7832+75_7833-77insACAGGG)
c.1287+75_1288-77insACAGGG
n.7918+75_7919-77insACAGGG
gnomAD v4
19g.38502798_38502810delinsCAGGGGCAGGGGGCA2335054642RYR1c.7835+71_7836-70delinsCAGGGGCAGGGGG (n.7835+71_7836-70delinsCAGGGGCAGGGGG)
c.7832+71_7833-70delinsCAGGGGCAGGGGG (n.7832+71_7833-70delinsCAGGGGCAGGGGG)
c.1287+71_1288-70delinsCAGGGGCAGGGGG
n.7918+71_7919-70delinsCAGGGGCAGGGGG
19g.38502798_38502825delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGGCA2335054641RYR1c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG (n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG)
c.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG (n.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG)
c.1287+71_1288-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG
n.7918+71_7919-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG
19g.38502798_38502799insCGGGGGAGGGGGAGGGGGCA2584900834RYR1c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG (n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG)
c.7832+71_7832+72insCGGGGGAGGGGGAGGGGG (n.7832+71_7832+72insCGGGGGAGGGGGAGGGGG)
c.1287+71_1287+72insCGGGGGAGGGGGAGGGGG
n.7918+71_7918+72insCGGGGGAGGGGGAGGGGG
gnomAD v4
19g.38502799delCA2814347224RYR1c.7835+72del (n.7835+72del)
c.7832+72del (n.7832+72del)
c.1287+72del
n.7918+72del
19g.38502799A=CA2335054645RYR1c.7835+72A= (n.7835+72A=)
c.7832+72A= (n.7832+72A=)
c.1287+72A=
n.7918+72A=
19g.38502799A>CCA2528574926RYR1c.7835+72A>C (n.7835+72A>C)
c.7832+72A>C (n.7832+72A>C)
c.1287+72A>C
n.7918+72A>C
gnomAD v4
19g.38502799A>GCA882054153RYR1c.7835+72A>G (n.7835+72A>G)
c.7832+72A>G (n.7832+72A>G)
c.1287+72A>G
n.7918+72A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502799A>TCA2576771126RYR1c.7835+72A>T (n.7835+72A>T)
c.7832+72A>T (n.7832+72A>T)
c.1287+72A>T
n.7918+72A>T
gnomAD v4
19g.38502800_38502801insCAGAGCAGGGGGAGCA2584900836RYR1c.7835+73_7835+74insCAGAGCAGGGGGAG (n.7835+73_7835+74insCAGAGCAGGGGGAG)
c.7832+73_7832+74insCAGAGCAGGGGGAG (n.7832+73_7832+74insCAGAGCAGGGGGAG)
c.1287+73_1287+74insCAGAGCAGGGGGAG
n.7918+73_7918+74insCAGAGCAGGGGGAG
gnomAD v4
19g.38502800_38502801insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGCA2584900835RYR1c.7835+73_7835+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG (n.7835+73_7835+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG)
c.7832+73_7832+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG (n.7832+73_7832+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG)
c.1287+73_1287+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
n.7918+73_7918+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG
gnomAD v4
19g.38502799_38502802delinsAGGGCA2335054648RYR1c.7835+72_7835+75delinsAGGG (n.7835+72_7835+75delinsAGGG)
c.7832+72_7832+75delinsAGGG (n.7832+72_7832+75delinsAGGG)
c.1287+72_1287+75delinsAGGG
n.7918+72_7918+75delinsAGGG
19g.38502799_38502803delCA2814347223RYR1c.7835+72_7836-77del (n.7835+72_7836-77del)
c.7832+72_7833-77del (n.7832+72_7833-77del)
c.1287+72_1288-77del
n.7918+72_7919-77del
19g.38502799_38502803delinsAGGGGCA2335054647RYR1c.7835+72_7836-77delinsAGGGG (n.7835+72_7836-77delinsAGGGG)
c.7832+72_7833-77delinsAGGGG (n.7832+72_7833-77delinsAGGGG)
c.1287+72_1288-77delinsAGGGG
n.7918+72_7919-77delinsAGGGG
19g.38502803_38502804insGAGGGGCA882054148RYR1c.7836-77_7836-76insGAGGGG (n.7836-77_7836-76insGAGGGG)
c.7833-77_7833-76insGAGGGG (n.7833-77_7833-76insGAGGGG)
c.1288-77_1288-76insGAGGGG
n.7919-77_7919-76insGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insTAGGGGCA2576771125RYR1c.7836-77_7836-76insTAGGGG (n.7836-77_7836-76insTAGGGG)
c.7833-77_7833-76insTAGGGG (n.7833-77_7833-76insTAGGGG)
c.1288-77_1288-76insTAGGGG
n.7919-77_7919-76insTAGGGG
gnomAD v4
19g.38502803_38502804insGAGGAGGAGGGGCA2584900841RYR1c.7836-77_7836-76insGAGGAGGAGGGG (n.7836-77_7836-76insGAGGAGGAGGGG)
c.7833-77_7833-76insGAGGAGGAGGGG (n.7833-77_7833-76insGAGGAGGAGGGG)
c.1288-77_1288-76insGAGGAGGAGGGG
n.7919-77_7919-76insGAGGAGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGCA633066297RYR1c.7836-77_7836-76insGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGCA633066298RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGGGGGGGAGGGGCA2584900833RYR1c.7836-77_7836-76insGAGGGGGGGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGGGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGGGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGGGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGGGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGGGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGCA2582145382RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGCA995718179RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2335054650RYR1c.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
dbSNP gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA995718181RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA995718163RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2582145383RYR1c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900829RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900826RYR1c.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900842RYR1c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900832RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900838RYR1c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900831RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900827RYR1c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCA2584900830RYR1c.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCA2584900828RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502808_38502809insTGAGGGGCAGGGCA2584900840RYR1c.7836-72_7836-71insTGAGGGGCAGGG (n.7836-72_7836-71insTGAGGGGCAGGG)
c.7833-72_7833-71insTGAGGGGCAGGG (n.7833-72_7833-71insTGAGGGGCAGGG)
c.1288-72_1288-71insTGAGGGGCAGGG
n.7919-72_7919-71insTGAGGGGCAGGG
gnomAD v4
19g.38502799_38502809delinsAGGGGCAGGGGCA2335054646RYR1c.7835+72_7836-71delinsAGGGGCAGGGG (n.7835+72_7836-71delinsAGGGGCAGGGG)
c.7832+72_7833-71delinsAGGGGCAGGGG (n.7832+72_7833-71delinsAGGGGCAGGGG)
c.1287+72_1288-71delinsAGGGGCAGGGG
n.7918+72_7919-71delinsAGGGGCAGGGG
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGCA633066295RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGTAGGGGCAGGGGCA2584900839RYR1c.7836-71_7836-70insCAGGGGTAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGTAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGTAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGTAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCA920105610RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGGGCAGGGGCA920105611RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGCAGGGG
dbSNP gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCA995718184RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA2570982574RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCA2584900837RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCA995718183RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCA2508541197RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCA995718186RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502813_38502814insGGGAGGGGCAGGGGGAGGCA2335054649RYR1c.7836-67_7836-66insGGGAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGCAGGGGGAGG)
c.7833-67_7833-66insGGGAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGCAGGGGGAGG)
c.1288-67_1288-66insGGGAGGGGCAGGGGGAGG
n.7919-67_7919-66insGGGAGGGGCAGGGGGAGG
dbSNP gnomAD v4
19g.38502802_38502813dupCA633066296RYR1c.7835+75_7836-67dup (n.7835+75_7836-67dup)
c.7832+75_7833-67dup (n.7832+75_7833-67dup)
c.1287+75_1288-67dup
n.7918+75_7919-67dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502802_38502813delCA882054160RYR1c.7835+75_7836-67del (n.7835+75_7836-67del)
c.7832+75_7833-67del (n.7832+75_7833-67del)
c.1287+75_1288-67del
n.7918+75_7919-67del
dbSNP gnomAD v3 gnomAD v4
19g.38502799_38502817delCA2814347221RYR1c.7835+72_7836-63del (n.7835+72_7836-63del)
c.7832+72_7833-63del (n.7832+72_7833-63del)
c.1287+72_1288-63del
n.7918+72_7919-63del
19g.38502799_38502820delinsAGGGGCAGGGGGAGGAGCAGGGCA2335054644RYR1c.7835+72_7836-60delinsAGGGGCAGGGGGAGGAGCAGGG (n.7835+72_7836-60delinsAGGGGCAGGGGGAGGAGCAGGG)
c.7832+72_7833-60delinsAGGGGCAGGGGGAGGAGCAGGG (n.7832+72_7833-60delinsAGGGGCAGGGGGAGGAGCAGGG)
c.1287+72_1288-60delinsAGGGGCAGGGGGAGGAGCAGGG
n.7918+72_7919-60delinsAGGGGCAGGGGGAGGAGCAGGG
19g.38502799_38502823delCA2584900843RYR1c.7835+72_7836-57del (n.7835+72_7836-57del)
c.7832+72_7833-57del (n.7832+72_7833-57del)
c.1287+72_1288-57del
n.7918+72_7919-57del
gnomAD v4
19g.38502799_38502825delCA995718158RYR1c.7835+72_7836-55del (n.7835+72_7836-55del)
c.7832+72_7833-55del (n.7832+72_7833-55del)
c.1287+72_1288-55del
n.7918+72_7919-55del
dbSNP gnomAD v3 gnomAD v4
19g.38502799_38502828delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCCA2335054643RYR1c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC (n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC)
c.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC (n.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC)
c.1287+72_1288-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC
n.7918+72_7919-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC
19g.38502799_38502800insTCA2584900851RYR1c.7835+72_7835+73insT (n.7835+72_7835+73insT)
c.7832+72_7832+73insT (n.7832+72_7832+73insT)
c.1287+72_1287+73insT
n.7918+72_7918+73insT
gnomAD v4
19g.38502800G>ACA2584900845RYR1c.7835+73G>A (n.7835+73G>A)
c.7832+73G>A (n.7832+73G>A)
c.1287+73G>A
n.7918+73G>A
gnomAD v4
19g.38502800G=CA2335054651RYR1c.7835+73G= (n.7835+73G=)
c.7832+73G= (n.7832+73G=)
c.1287+73G=
n.7918+73G=
19g.38502800G>TCA2584900844RYR1c.7835+73G>T (n.7835+73G>T)
c.7832+73G>T (n.7832+73G>T)
c.1287+73G>T
n.7918+73G>T
gnomAD v4
19g.38502800_38502803delCA633066301RYR1c.7835+73_7836-77del (n.7835+73_7836-77del)
c.7832+73_7833-77del (n.7832+73_7833-77del)
c.1287+73_1288-77del
n.7918+73_7919-77del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGGGGGGCA2584900852RYR1c.7836-77_7836-76insGAGGGGGGGGGG (n.7836-77_7836-76insGAGGGGGGGGGG)
c.7833-77_7833-76insGAGGGGGGGGGG (n.7833-77_7833-76insGAGGGGGGGGGG)
c.1288-77_1288-76insGAGGGGGGGGGG
n.7919-77_7919-76insGAGGGGGGGGGG
gnomAD v4
19g.38502803dupCA995718194RYR1c.7836-77dup (n.7836-77dup)
c.7833-77dup (n.7833-77dup)
c.1288-77dup
n.7919-77dup
dbSNP gnomAD v3 gnomAD v4
19g.38502801_38502803delCA633066299RYR1c.7835+74_7836-77del (n.7835+74_7836-77del)
c.7832+74_7833-77del (n.7832+74_7833-77del)
c.1287+74_1288-77del
n.7918+74_7919-77del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502800_38502804delCA2584900850RYR1c.7835+73_7836-76del (n.7835+73_7836-76del)
c.7832+73_7833-76del (n.7832+73_7833-76del)
c.1287+73_1288-76del
n.7918+73_7919-76del
gnomAD v4
19g.38502800_38502804delinsGGGGCCA2335054652RYR1c.7835+73_7836-76delinsGGGGC (n.7835+73_7836-76delinsGGGGC)
c.7832+73_7833-76delinsGGGGC (n.7832+73_7833-76delinsGGGGC)
c.1287+73_1288-76delinsGGGGC
n.7918+73_7919-76delinsGGGGC
19g.38502809_38502810insCAGGGGCAGGGGGCAGGGGCA920105612RYR1c.7836-71_7836-70insCAGGGGCAGGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGCAGGGG
dbSNP
19g.38502804_38502810delCA2584900849RYR1c.7836-76_7836-70del (n.7836-76_7836-70del)
c.7833-76_7833-70del (n.7833-76_7833-70del)
c.1288-76_1288-70del
n.7919-76_7919-70del
dbSNP gnomAD v4
19g.38502802_38502810delCA633066300RYR1c.7835+75_7836-70del (n.7835+75_7836-70del)
c.7832+75_7833-70del (n.7832+75_7833-70del)
c.1287+75_1288-70del
n.7918+75_7919-70del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502801_38502810delCA995718209RYR1c.7835+74_7836-70del (n.7835+74_7836-70del)
c.7832+74_7833-70del (n.7832+74_7833-70del)
c.1287+74_1288-70del
n.7918+74_7919-70del
dbSNP gnomAD v3 gnomAD v4
19g.38502801_38502813delCA2584900848RYR1c.7835+74_7836-67del (n.7835+74_7836-67del)
c.7832+74_7833-67del (n.7832+74_7833-67del)
c.1287+74_1288-67del
n.7918+74_7919-67del
gnomAD v4
19g.38502800_38502814delinsGGGGCAGGGGGAGGACA2335054653RYR1c.7835+73_7836-66delinsGGGGCAGGGGGAGGA (n.7835+73_7836-66delinsGGGGCAGGGGGAGGA)
c.7832+73_7833-66delinsGGGGCAGGGGGAGGA (n.7832+73_7833-66delinsGGGGCAGGGGGAGGA)
c.1287+73_1288-66delinsGGGGCAGGGGGAGGA
n.7918+73_7919-66delinsGGGGCAGGGGGAGGA
19g.38502800_38502816delinsGGGGCAGGGGGAGGAGCCA2335054654RYR1c.7835+73_7836-64delinsGGGGCAGGGGGAGGAGC (n.7835+73_7836-64delinsGGGGCAGGGGGAGGAGC)
c.7832+73_7833-64delinsGGGGCAGGGGGAGGAGC (n.7832+73_7833-64delinsGGGGCAGGGGGAGGAGC)
c.1287+73_1288-64delinsGGGGCAGGGGGAGGAGC
n.7918+73_7919-64delinsGGGGCAGGGGGAGGAGC
19g.38502800_38502821delCA2534497867RYR1c.7835+73_7836-59del (n.7835+73_7836-59del)
c.7832+73_7833-59del (n.7832+73_7833-59del)
c.1287+73_1288-59del
n.7918+73_7919-59del
19g.38502801_38502821delCA2335054655RYR1c.7835+74_7836-59del (n.7835+74_7836-59del)
c.7832+74_7833-59del (n.7832+74_7833-59del)
c.1287+74_1288-59del
n.7918+74_7919-59del
dbSNP
19g.38502800_38502827delCA2584900846RYR1c.7835+73_7836-53del (n.7835+73_7836-53del)
c.7832+73_7833-53del (n.7832+73_7833-53del)
c.1287+73_1288-53del
n.7918+73_7919-53del
gnomAD v4
19g.38502801_38502827delCA2584900847RYR1c.7835+74_7836-53del (n.7835+74_7836-53del)
c.7832+74_7833-53del (n.7832+74_7833-53del)
c.1287+74_1288-53del
n.7918+74_7919-53del
gnomAD v4
19g.38502800_38502828delCA995718225RYR1c.7835+73_7836-52del (n.7835+73_7836-52del)
c.7832+73_7833-52del (n.7832+73_7833-52del)
c.1287+73_1288-52del
n.7918+73_7919-52del
dbSNP gnomAD v3 gnomAD v4
19g.38502800_38502801insCACA995718231RYR1c.7835+73_7835+74insCA (n.7835+73_7835+74insCA)
c.7832+73_7832+74insCA (n.7832+73_7832+74insCA)
c.1287+73_1287+74insCA
n.7918+73_7918+74insCA
dbSNP gnomAD v3 gnomAD v4
19g.38502800_38502801insTAGAGCCA2546368036RYR1c.7835+73_7835+74insTAGAGC (n.7835+73_7835+74insTAGAGC)
c.7832+73_7832+74insTAGAGC (n.7832+73_7832+74insTAGAGC)
c.1287+73_1287+74insTAGAGC
n.7918+73_7918+74insTAGAGC
19g.38502800_38502801insCAGAGCGACA2584900853RYR1c.7835+73_7835+74insCAGAGCGA (n.7835+73_7835+74insCAGAGCGA)
c.7832+73_7832+74insCAGAGCGA (n.7832+73_7832+74insCAGAGCGA)
c.1287+73_1287+74insCAGAGCGA
n.7918+73_7918+74insCAGAGCGA
gnomAD v4
19g.38502801G>ACA882054172RYR1c.7835+74G>A (n.7835+74G>A)
c.7832+74G>A (n.7832+74G>A)
c.1287+74G>A
n.7918+74G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502801G>CCA2576771127RYR1c.7835+74G>C (n.7835+74G>C)
c.7832+74G>C (n.7832+74G>C)
c.1287+74G>C
n.7918+74G>C
gnomAD v4
19g.38502801G=CA2335054657RYR1c.7835+74G= (n.7835+74G=)
c.7832+74G= (n.7832+74G=)
c.1287+74G=
n.7918+74G=
19g.38502801_38502804delCA633066302RYR1c.7835+74_7836-76del (n.7835+74_7836-76del)
c.7832+74_7833-76del (n.7832+74_7833-76del)
c.1287+74_1288-76del
n.7918+74_7919-76del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502802_38502815delCA308112897RYR1c.7835+75_7836-65del (n.7835+75_7836-65del)
c.7832+75_7833-65del (n.7832+75_7833-65del)
c.1287+75_1288-65del
n.7918+75_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502801_38502816delCA995718234RYR1c.7835+74_7836-64del (n.7835+74_7836-64del)
c.7832+74_7833-64del (n.7832+74_7833-64del)
c.1287+74_1288-64del
n.7918+74_7919-64del
dbSNP gnomAD v3 gnomAD v4
19g.38502801_38502831delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCCA2335054656RYR1c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC (n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC)
c.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC (n.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC)
c.1287+74_1288-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC
n.7918+74_7919-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC
19g.38502801_38502802insACA2584900855RYR1c.7835+74_7835+75insA (n.7835+74_7835+75insA)
c.7832+74_7832+75insA (n.7832+74_7832+75insA)
c.1287+74_1287+75insA
n.7918+74_7918+75insA
gnomAD v4
19g.38502802G>ACA308112907RYR1c.7835+75G>A (n.7835+75G>A)
c.7832+75G>A (n.7832+75G>A)
c.1287+75G>A
n.7918+75G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502802G=CA2335054658RYR1c.7835+75G= (n.7835+75G=)
c.7832+75G= (n.7832+75G=)
c.1287+75G=
n.7918+75G=
19g.38502802_38502804delCA2584900856RYR1c.7835+75_7836-76del (n.7835+75_7836-76del)
c.7832+75_7833-76del (n.7832+75_7833-76del)
c.1287+75_1288-76del
n.7918+75_7919-76del
gnomAD v4
19g.38502806_38502807insCGGCAGCA2584900854RYR1c.7836-74_7836-73insCGGCAG (n.7836-74_7836-73insCGGCAG)
c.7833-74_7833-73insCGGCAG (n.7833-74_7833-73insCGGCAG)
c.1288-74_1288-73insCGGCAG
n.7919-74_7919-73insCGGCAG
gnomAD v4
19g.38502802_38502814delinsGGCAGGGGGAGGACA2335054659RYR1c.7835+75_7836-66delinsGGCAGGGGGAGGA (n.7835+75_7836-66delinsGGCAGGGGGAGGA)
c.7832+75_7833-66delinsGGCAGGGGGAGGA (n.7832+75_7833-66delinsGGCAGGGGGAGGA)
c.1287+75_1288-66delinsGGCAGGGGGAGGA
n.7918+75_7919-66delinsGGCAGGGGGAGGA
19g.38502802_38502831delCA995718238RYR1c.7835+75_7836-49del (n.7835+75_7836-49del)
c.7832+75_7833-49del (n.7832+75_7833-49del)
c.1287+75_1288-49del
n.7918+75_7919-49del
dbSNP gnomAD v3 gnomAD v4
19g.38502802_38502803insACA2584900870RYR1c.7835+75_7836-77insA (n.7835+75_7836-77insA)
c.7832+75_7833-77insA (n.7832+75_7833-77insA)
c.1287+75_1288-77insA
n.7918+75_7919-77insA
gnomAD v4
19g.38502803G>ACA882054198RYR1c.7836-77G>A (n.7836-77G>A)
c.7833-77G>A (n.7833-77G>A)
c.1288-77G>A
n.7919-77G>A
dbSNP gnomAD v4
19g.38502803G>CCA2584900869RYR1c.7836-77G>C (n.7836-77G>C)
c.7833-77G>C (n.7833-77G>C)
c.1288-77G>C
n.7919-77G>C
gnomAD v4
19g.38502803G=CA2335054660RYR1c.7836-77G= (n.7836-77G=)
c.7833-77G= (n.7833-77G=)
c.1288-77G=
n.7919-77G=
19g.38502803_38502804insAGGAGCA2584900871RYR1c.7836-77_7836-76insAGGAG (n.7836-77_7836-76insAGGAG)
c.7833-77_7833-76insAGGAG (n.7833-77_7833-76insAGGAG)
c.1288-77_1288-76insAGGAG
n.7919-77_7919-76insAGGAG
gnomAD v4
19g.38502803_38502804insGAGGAGCA633066303RYR1c.7836-77_7836-76insGAGGAG (n.7836-77_7836-76insGAGGAG)
c.7833-77_7833-76insGAGGAG (n.7833-77_7833-76insGAGGAG)
c.1288-77_1288-76insGAGGAG
n.7919-77_7919-76insGAGGAG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502803_38502804insGGAGGAGCA2584900867RYR1c.7836-77_7836-76insGGAGGAG (n.7836-77_7836-76insGGAGGAG)
c.7833-77_7833-76insGGAGGAG (n.7833-77_7833-76insGGAGGAG)
c.1288-77_1288-76insGGAGGAG
n.7919-77_7919-76insGGAGGAG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGAGCA2582145384RYR1c.7836-77_7836-76insGAGGGGGAGGAG (n.7836-77_7836-76insGAGGGGGAGGAG)
c.7833-77_7833-76insGAGGGGGAGGAG (n.7833-77_7833-76insGAGGGGGAGGAG)
c.1288-77_1288-76insGAGGGGGAGGAG
n.7919-77_7919-76insGAGGGGGAGGAG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGAGCAGGGGGAGGAGCA995718257RYR1c.7836-77_7836-76insGAGGAGCAGGGGGAGGAG (n.7836-77_7836-76insGAGGAGCAGGGGGAGGAG)
c.7833-77_7833-76insGAGGAGCAGGGGGAGGAG (n.7833-77_7833-76insGAGGAGCAGGGGGAGGAG)
c.1288-77_1288-76insGAGGAGCAGGGGGAGGAG
n.7919-77_7919-76insGAGGAGCAGGGGGAGGAG
dbSNP gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGCAGGGGGAGGAGCA2582145385RYR1c.7836-77_7836-76insGAGGGGCAGGGGGAGGAG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGAG)
c.7833-77_7833-76insGAGGGGCAGGGGGAGGAG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGAG)
c.1288-77_1288-76insGAGGGGCAGGGGGAGGAG
n.7919-77_7919-76insGAGGGGCAGGGGGAGGAG
gnomAD v3 gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAGCA2584900866RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG
gnomAD v4
19g.38502803_38502804delCA2584900868RYR1c.7836-77_7836-76del (n.7836-77_7836-76del)
c.7833-77_7833-76del (n.7833-77_7833-76del)
c.1288-77_1288-76del
n.7919-77_7919-76del
gnomAD v4
19g.38502806_38502807insCAGAGGGGAGGAGCAGCA2584900872RYR1c.7836-74_7836-73insCAGAGGGGAGGAGCAG (n.7836-74_7836-73insCAGAGGGGAGGAGCAG)
c.7833-74_7833-73insCAGAGGGGAGGAGCAG (n.7833-74_7833-73insCAGAGGGGAGGAGCAG)
c.1288-74_1288-73insCAGAGGGGAGGAGCAG
n.7919-74_7919-73insCAGAGGGGAGGAGCAG
gnomAD v4
19g.38502807_38502808insAGCAGGCA995718271RYR1c.7836-73_7836-72insAGCAGG (n.7836-73_7836-72insAGCAGG)
c.7833-73_7833-72insAGCAGG (n.7833-73_7833-72insAGCAGG)
c.1288-73_1288-72insAGCAGG
n.7919-73_7919-72insAGCAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGAGCAGGGGCA2584900874RYR1c.7836-71_7836-70insCAGGAGCAGGGG (n.7836-71_7836-70insCAGGAGCAGGGG)
c.7833-71_7833-70insCAGGAGCAGGGG (n.7833-71_7833-70insCAGGAGCAGGGG)
c.1288-71_1288-70insCAGGAGCAGGGG
n.7919-71_7919-70insCAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGAGCAGGGGCA633066305RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insTAGGGGGAGGAGCAGGGGCA2584900865RYR1c.7836-71_7836-70insTAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insTAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insTAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insTAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insTAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insTAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGAGCAGGGGCA995718263RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGAGAGGAGCAGGGGCA2584900875RYR1c.7836-71_7836-70insCAGGGGCAGGGAGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGAGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGAGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGAGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGAGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGAGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGCA633066306RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGGCA2584900858RYR1c.7836-71_7836-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGGCA995718283RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2584900860RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA995718268RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGGCA995718264RYR1c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGGCA2584900876RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGGCA2584900887RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA2560531417RYR1c.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA995718278RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA2584900873RYR1c.7836-71_7836-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2553212418RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
19g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGGCA2584900859RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGGCA2515676476RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGGCA2584900883RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGGCA2584900857RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGGCA995718265RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2584900885RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA995718279RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGGCA2584900886RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA995718280RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGGCA2584900882RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGGCA2584900884RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2584900881RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGGCA2584900880RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA2584900879RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA2584900878RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA995718281RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCA2584900877RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502813_38502814insGGGAGGAGCAGGGGGAGGCA995718259RYR1c.7836-67_7836-66insGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGGAGGAGCAGGGGGAGG)
c.7833-67_7833-66insGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGGAGGAGCAGGGGGAGG)
c.1288-67_1288-66insGGGAGGAGCAGGGGGAGG
n.7919-67_7919-66insGGGAGGAGCAGGGGGAGG
gnomAD v3 gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGAGCAGGGGGAGGCA2584900864RYR1c.7836-67_7836-66insGGCAGGGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGAGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGAGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGAGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGAGCAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGCA2584900863RYR1c.7836-67_7836-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG
gnomAD v4
19g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGGCA2584900862RYR1c.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-59_1288-58insGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-59_7919-58insGAGGAGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2535608033RYR1c.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-59_1288-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-59_7919-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
gnomAD v4
19g.38502810_38502821dupCA633066304RYR1c.7836-70_7836-59dup (n.7836-70_7836-59dup)
c.7833-70_7833-59dup (n.7833-70_7833-59dup)
c.1288-70_1288-59dup
n.7919-70_7919-59dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810_38502821delCA633066307RYR1c.7836-70_7836-59del (n.7836-70_7836-59del)
c.7833-70_7833-59del (n.7833-70_7833-59del)
c.1288-70_1288-59del
n.7919-70_7919-59del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502827_38502828insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGGCA2584900861RYR1c.7836-53_7836-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-53_7836-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG)
c.7833-53_7833-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-53_7833-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG)
c.1288-53_1288-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG
n.7919-53_7919-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG
gnomAD v4
19g.38502803_38502804insGAGGGGGAGGGGGAGGGACA2814347247RYR1c.7836-77_7836-76insGAGGGGGAGGGGGAGGGA (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGA)
c.7833-77_7833-76insGAGGGGGAGGGGGAGGGA (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGA)
c.1288-77_1288-76insGAGGGGGAGGGGGAGGGA
n.7919-77_7919-76insGAGGGGGAGGGGGAGGGA
19g.38502804delCA995718296RYR1c.7836-76del (n.7836-76del)
c.7833-76del (n.7833-76del)
c.1288-76del
n.7919-76del
gnomAD v3 gnomAD v4
19g.38502804C>ACA995718292RYR1c.7836-76C>A (n.7836-76C>A)
c.7833-76C>A (n.7833-76C>A)
c.1288-76C>A
n.7919-76C>A
dbSNP gnomAD v3 gnomAD v4
19g.38502804C=CA2335054662RYR1c.7836-76C= (n.7836-76C=)
c.7833-76C= (n.7833-76C=)
c.1288-76C=
n.7919-76C=
19g.38502804C>GCA308112915RYR1c.7836-76C>G (n.7836-76C>G)
c.7833-76C>G (n.7833-76C>G)
c.1288-76C>G
n.7919-76C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502804C>TCA882054200RYR1c.7836-76C>T (n.7836-76C>T)
c.7833-76C>T (n.7833-76C>T)
c.1288-76C>T
n.7919-76C>T
dbSNP gnomAD v3 gnomAD v4
19g.38502804_38502805delCA633066308RYR1c.7836-76_7836-75del (n.7836-76_7836-75del)
c.7833-76_7833-75del (n.7833-76_7833-75del)
c.1288-76_1288-75del
n.7919-76_7919-75del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502804_38502810delinsCAGGGGGCA2335054663RYR1c.7836-76_7836-70delinsCAGGGGG (n.7836-76_7836-70delinsCAGGGGG)
c.7833-76_7833-70delinsCAGGGGG (n.7833-76_7833-70delinsCAGGGGG)
c.1288-76_1288-70delinsCAGGGGG
n.7919-76_7919-70delinsCAGGGGG
19g.38502804_38502816delCA2584900888RYR1c.7836-76_7836-64del (n.7836-76_7836-64del)
c.7833-76_7833-64del (n.7833-76_7833-64del)
c.1288-76_1288-64del
n.7919-76_7919-64del
gnomAD v4
19g.38502804_38502825delinsCAGGGGGAGGAGCAGGGGCAGGCA2335054661RYR1c.7836-76_7836-55delinsCAGGGGGAGGAGCAGGGGCAGG (n.7836-76_7836-55delinsCAGGGGGAGGAGCAGGGGCAGG)
c.7833-76_7833-55delinsCAGGGGGAGGAGCAGGGGCAGG (n.7833-76_7833-55delinsCAGGGGGAGGAGCAGGGGCAGG)
c.1288-76_1288-55delinsCAGGGGGAGGAGCAGGGGCAGG
n.7919-76_7919-55delinsCAGGGGGAGGAGCAGGGGCAGG
19g.38502805delCA2814347263RYR1c.7836-75del (n.7836-75del)
c.7833-75del (n.7833-75del)
c.1288-75del
n.7919-75del
19g.38502805A=CA2335054665RYR1c.7836-75A= (n.7836-75A=)
c.7833-75A= (n.7833-75A=)
c.1288-75A=
n.7919-75A=
19g.38502805A>CCA2584900894RYR1c.7836-75A>C (n.7836-75A>C)
c.7833-75A>C (n.7833-75A>C)
c.1288-75A>C
n.7919-75A>C
gnomAD v4
19g.38502805A>GCA882054211RYR1c.7836-75A>G (n.7836-75A>G)
c.7833-75A>G (n.7833-75A>G)
c.1288-75A>G
n.7919-75A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502805A>TCA2576771129RYR1c.7836-75A>T (n.7836-75A>T)
c.7833-75A>T (n.7833-75A>T)
c.1288-75A>T
n.7919-75A>T
gnomAD v3 gnomAD v4
19g.38502805_38502807delinsAGGCA2335054664RYR1c.7836-75_7836-73delinsAGG (n.7836-75_7836-73delinsAGG)
c.7833-75_7833-73delinsAGG (n.7833-75_7833-73delinsAGG)
c.1288-75_1288-73delinsAGG
n.7919-75_7919-73delinsAGG
19g.38502807_38502808insAGGAGGGGGAGGGGGAGGGGGAGGCA2527248667RYR1c.7836-73_7836-72insAGGAGGGGGAGGGGGAGGGGGAGG (n.7836-73_7836-72insAGGAGGGGGAGGGGGAGGGGGAGG)
c.7833-73_7833-72insAGGAGGGGGAGGGGGAGGGGGAGG (n.7833-73_7833-72insAGGAGGGGGAGGGGGAGGGGGAGG)
c.1288-73_1288-72insAGGAGGGGGAGGGGGAGGGGGAGG
n.7919-73_7919-72insAGGAGGGGGAGGGGGAGGGGGAGG
19g.38502809_38502810insTAGGGGCA2576771128RYR1c.7836-71_7836-70insTAGGGG (n.7836-71_7836-70insTAGGGG)
c.7833-71_7833-70insTAGGGG (n.7833-71_7833-70insTAGGGG)
c.1288-71_1288-70insTAGGGG
n.7919-71_7919-70insTAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGCA633066311RYR1c.7836-71_7836-70insCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGCA995718321RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGGGCA995718311RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGAGGGGGAGGGGCA2584900898RYR1c.7836-71_7836-70insCAGGGGCAGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGTAGGGGCA2584900900RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGTAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGTAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGTAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGTAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGTAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGTAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGCA995718309RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCA633066310RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGCA995718308RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAAGGGGGAGGGGCA2584900889RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA995718334RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2582145386RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA995718314RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCA995718336RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGGCA2550224393RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900897RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2584900906RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCA995718339RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900909RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900907RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCA2584900902RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2584900904RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCA2584900890RYR1c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900910RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCA2584900911RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900908RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCA2584900899RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCA2584900905RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCA2584900901RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCA2584900903RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502805_38502809dupCA995718342RYR1c.7836-75_7836-71dup (n.7836-75_7836-71dup)
c.7833-75_7833-71dup (n.7833-75_7833-71dup)
c.1288-75_1288-71dup
n.7919-75_7919-71dup
dbSNP gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGGGCAGGGGGAGGGGGAGGGGGCA2584900893RYR1c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG (n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG)
c.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG (n.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG)
c.1288-70_1288-69insGGGGGCAGGGGGAGGGGGAGGGGG
n.7919-70_7919-69insGGGGGCAGGGGGAGGGGGAGGGGG
gnomAD v4
19g.38502813_38502814insGGGAGGGGGAGGCA882054212RYR1c.7836-67_7836-66insGGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGGAGG)
c.7833-67_7833-66insGGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGGAGG)
c.1288-67_1288-66insGGGAGGGGGAGG
n.7919-67_7919-66insGGGAGGGGGAGG
dbSNP gnomAD v4
19g.38502813_38502814insGGGAGGAGGAGGGGGAGGCA2584900891RYR1c.7836-67_7836-66insGGGAGGAGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGAGGAGGGGGAGG)
c.7833-67_7833-66insGGGAGGAGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGAGGAGGGGGAGG)
c.1288-67_1288-66insGGGAGGAGGAGGGGGAGG
n.7919-67_7919-66insGGGAGGAGGAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGGAGGGGGAGGGGGAGGCA2584900892RYR1c.7836-67_7836-66insGGGAGGGGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGG)
c.7833-67_7833-66insGGGAGGGGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGG)
c.1288-67_1288-66insGGGAGGGGGAGGGGGAGG
n.7919-67_7919-66insGGGAGGGGGAGGGGGAGG
gnomAD v4
19g.38502813_38502814insGGCAGGGGGAGGGGGAGGGGGAGGCA2814347267RYR1c.7836-67_7836-66insGGCAGGGGGAGGGGGAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGGAGGGGGAGG)
c.7833-67_7833-66insGGCAGGGGGAGGGGGAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGGAGGGGGAGG)
c.1288-67_1288-66insGGCAGGGGGAGGGGGAGGGGGAGG
n.7919-67_7919-66insGGCAGGGGGAGGGGGAGGGGGAGG
19g.38502808_38502813dupCA633066312RYR1c.7836-72_7836-67dup (n.7836-72_7836-67dup)
c.7833-72_7833-67dup (n.7833-72_7833-67dup)
c.1288-72_1288-67dup
n.7919-72_7919-67dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502808_38502813delCA633066309RYR1c.7836-72_7836-67del (n.7836-72_7836-67del)
c.7833-72_7833-67del (n.7833-72_7833-67del)
c.1288-72_1288-67del
n.7919-72_7919-67del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502807_38502815delCA2584900895RYR1c.7836-73_7836-65del (n.7836-73_7836-65del)
c.7833-73_7833-65del (n.7833-73_7833-65del)
c.1288-73_1288-65del
n.7919-73_7919-65del
gnomAD v4
19g.38502805_38502819delCA2584900896RYR1c.7836-75_7836-61del (n.7836-75_7836-61del)
c.7833-75_7833-61del (n.7833-75_7833-61del)
c.1288-75_1288-61del
n.7919-75_7919-61del
gnomAD v4
19g.38502805_38502825delCA995718305RYR1c.7836-75_7836-55del (n.7836-75_7836-55del)
c.7833-75_7833-55del (n.7833-75_7833-55del)
c.1288-75_1288-55del
n.7919-75_7919-55del
dbSNP gnomAD v3 gnomAD v4
19g.38502806G>ACA882054214RYR1c.7836-74G>A (n.7836-74G>A)
c.7833-74G>A (n.7833-74G>A)
c.1288-74G>A
n.7919-74G>A
dbSNP
19g.38502806G>CCA2576771130RYR1c.7836-74G>C (n.7836-74G>C)
c.7833-74G>C (n.7833-74G>C)
c.1288-74G>C
n.7919-74G>C
gnomAD v4
19g.38502806G=CA2335054667RYR1c.7836-74G= (n.7836-74G=)
c.7833-74G= (n.7833-74G=)
c.1288-74G=
n.7919-74G=
19g.38502806G>TCA2584900915RYR1c.7836-74G>T (n.7836-74G>T)
c.7833-74G>T (n.7833-74G>T)
c.1288-74G>T
n.7919-74G>T
gnomAD v4
19g.38502809_38502810insCCGGGGCA2814347276RYR1c.7836-71_7836-70insCCGGGG (n.7836-71_7836-70insCCGGGG)
c.7833-71_7833-70insCCGGGG (n.7833-71_7833-70insCCGGGG)
c.1288-71_1288-70insCCGGGG
n.7919-71_7919-70insCCGGGG
19g.38502809_38502810insCGGGGGCA995718356RYR1c.7836-71_7836-70insCGGGGG (n.7836-71_7836-70insCGGGGG)
c.7833-71_7833-70insCGGGGG (n.7833-71_7833-70insCGGGGG)
c.1288-71_1288-70insCGGGGG
n.7919-71_7919-70insCGGGGG
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCCGGGGCA2814347274RYR1c.7836-71_7836-70insCAGGGGCCGGGG (n.7836-71_7836-70insCAGGGGCCGGGG)
c.7833-71_7833-70insCAGGGGCCGGGG (n.7833-71_7833-70insCAGGGGCCGGGG)
c.1288-71_1288-70insCAGGGGCCGGGG
n.7919-71_7919-70insCAGGGGCCGGGG
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGGCA2584900914RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG
gnomAD v4
19g.38502806_38502810delCA995718362RYR1c.7836-74_7836-70del (n.7836-74_7836-70del)
c.7833-74_7833-70del (n.7833-74_7833-70del)
c.1288-74_1288-70del
n.7919-74_7919-70del
gnomAD v3 gnomAD v4
19g.38502810_38502811insGGGGGGCA2584900918RYR1c.7836-70_7836-69insGGGGGG (n.7836-70_7836-69insGGGGGG)
c.7833-70_7833-69insGGGGGG (n.7833-70_7833-69insGGGGGG)
c.1288-70_1288-69insGGGGGG
n.7919-70_7919-69insGGGGGG
gnomAD v4
19g.38502810delCA995718360RYR1c.7836-70del (n.7836-70del)
c.7833-70del (n.7833-70del)
c.1288-70del
n.7919-70del
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810delCA995718361RYR1c.7836-71_7836-70del (n.7836-71_7836-70del)
c.7833-71_7833-70del (n.7833-71_7833-70del)
c.1288-71_1288-70del
n.7919-71_7919-70del
dbSNP gnomAD v3 gnomAD v4
19g.38502808_38502810delCA2584900917RYR1c.7836-72_7836-70del (n.7836-72_7836-70del)
c.7833-72_7833-70del (n.7833-72_7833-70del)
c.1288-72_1288-70del
n.7919-72_7919-70del
gnomAD v4
19g.38502807_38502810delCA2584900916RYR1c.7836-73_7836-70del (n.7836-73_7836-70del)
c.7833-73_7833-70del (n.7833-73_7833-70del)
c.1288-73_1288-70del
n.7919-73_7919-70del
gnomAD v4
19g.38502806_38502814delinsGGGGGAGGACA2335054666RYR1c.7836-74_7836-66delinsGGGGGAGGA (n.7836-74_7836-66delinsGGGGGAGGA)
c.7833-74_7833-66delinsGGGGGAGGA (n.7833-74_7833-66delinsGGGGGAGGA)
c.1288-74_1288-66delinsGGGGGAGGA
n.7919-74_7919-66delinsGGGGGAGGA
19g.38502809_38502827delCA2584900912RYR1c.7836-71_7836-53del (n.7836-71_7836-53del)
c.7833-71_7833-53del (n.7833-71_7833-53del)
c.1288-71_1288-53del
n.7919-71_7919-53del
gnomAD v4
19g.38502807_38502827delCA995718364RYR1c.7836-73_7836-53del (n.7836-73_7836-53del)
c.7833-73_7833-53del (n.7833-73_7833-53del)
c.1288-73_1288-53del
n.7919-73_7919-53del
dbSNP gnomAD v3 gnomAD v4
19g.38502806_38502831delCA2584900913RYR1c.7836-74_7836-49del (n.7836-74_7836-49del)
c.7833-74_7833-49del (n.7833-74_7833-49del)
c.1288-74_1288-49del
n.7919-74_7919-49del
gnomAD v4
19g.38502806_38502807insCAGACA995718381RYR1c.7836-74_7836-73insCAGA (n.7836-74_7836-73insCAGA)
c.7833-74_7833-73insCAGA (n.7833-74_7833-73insCAGA)
c.1288-74_1288-73insCAGA
n.7919-74_7919-73insCAGA
gnomAD v3 gnomAD v4
19g.38502807G>ACA308112919RYR1c.7836-73G>A (n.7836-73G>A)
c.7833-73G>A (n.7833-73G>A)
c.1288-73G>A
n.7919-73G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.38502807G>CCA995718372RYR1c.7836-73G>C (n.7836-73G>C)
c.7833-73G>C (n.7833-73G>C)
c.1288-73G>C
n.7919-73G>C
gnomAD v3 gnomAD v4
19g.38502807G=CA2335054668RYR1c.7836-73G= (n.7836-73G=)
c.7833-73G= (n.7833-73G=)
c.1288-73G=
n.7919-73G=
19g.38502807G>TCA882054221RYR1c.7836-73G>T (n.7836-73G>T)
c.7833-73G>T (n.7833-73G>T)
c.1288-73G>T
n.7919-73G>T
dbSNP gnomAD v4
19g.38502809_38502810insCAAGGGCA2584900921RYR1c.7836-71_7836-70insCAAGGG (n.7836-71_7836-70insCAAGGG)
c.7833-71_7833-70insCAAGGG (n.7833-71_7833-70insCAAGGG)
c.1288-71_1288-70insCAAGGG
n.7919-71_7919-70insCAAGGG
gnomAD v4
19g.38502809_38502810insCAGCAGAGGGCA2584900919RYR1c.7836-71_7836-70insCAGCAGAGGG (n.7836-71_7836-70insCAGCAGAGGG)
c.7833-71_7833-70insCAGCAGAGGG (n.7833-71_7833-70insCAGCAGAGGG)
c.1288-71_1288-70insCAGCAGAGGG
n.7919-71_7919-70insCAGCAGAGGG
gnomAD v4
19g.38502809_38502810insCAGGGGCAAGGGCA995718395RYR1c.7836-71_7836-70insCAGGGGCAAGGG (n.7836-71_7836-70insCAGGGGCAAGGG)
c.7833-71_7833-70insCAGGGGCAAGGG (n.7833-71_7833-70insCAGGGGCAAGGG)
c.1288-71_1288-70insCAGGGGCAAGGG
n.7919-71_7919-70insCAGGGGCAAGGG
gnomAD v3 gnomAD v4
19g.38502808_38502815delCA633066314RYR1c.7836-72_7836-65del (n.7836-72_7836-65del)
c.7833-72_7833-65del (n.7833-72_7833-65del)
c.1288-72_1288-65del
n.7919-72_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502807_38502816delCA633066313RYR1c.7836-73_7836-64del (n.7836-73_7836-64del)
c.7833-73_7833-64del (n.7833-73_7833-64del)
c.1288-73_1288-64del
n.7919-73_7919-64del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502811_38502827delCA2584900920RYR1c.7836-69_7836-53del (n.7836-69_7836-53del)
c.7833-69_7833-53del (n.7833-69_7833-53del)
c.1288-69_1288-53del
n.7919-69_7919-53del
gnomAD v4
19g.38502807_38502828delCA2814347278RYR1c.7836-73_7836-52del (n.7836-73_7836-52del)
c.7833-73_7833-52del (n.7833-73_7833-52del)
c.1288-73_1288-52del
n.7919-73_7919-52del
19g.38502807_38502831delinsGGGGAGGAGCAGGGGCAGGGGCAGCCA2335054669RYR1c.7836-73_7836-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC (n.7836-73_7836-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC)
c.7833-73_7833-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC (n.7833-73_7833-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC)
c.1288-73_1288-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC
n.7919-73_7919-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC
19g.38502807_38502808insACA2584900925RYR1c.7836-73_7836-72insA (n.7836-73_7836-72insA)
c.7833-73_7833-72insA (n.7833-73_7833-72insA)
c.1288-73_1288-72insA
n.7919-73_7919-72insA
gnomAD v4
19g.38502807_38502808insAGCACA2584900924RYR1c.7836-73_7836-72insAGCA (n.7836-73_7836-72insAGCA)
c.7833-73_7833-72insAGCA (n.7833-73_7833-72insAGCA)
c.1288-73_1288-72insAGCA
n.7919-73_7919-72insAGCA
gnomAD v4
19g.38502808G>ACA308112935RYR1c.7836-72G>A (n.7836-72G>A)
c.7833-72G>A (n.7833-72G>A)
c.1288-72G>A
n.7919-72G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502808G>CCA2335054672RYR1c.7836-72G>C (n.7836-72G>C)
c.7833-72G>C (n.7833-72G>C)
c.1288-72G>C
n.7919-72G>C
dbSNP
19g.38502808G=CA2335054671RYR1c.7836-72G= (n.7836-72G=)
c.7833-72G= (n.7833-72G=)
c.1288-72G=
n.7919-72G=
19g.38502808G>TCA995718409RYR1c.7836-72G>T (n.7836-72G>T)
c.7833-72G>T (n.7833-72G>T)
c.1288-72G>T
n.7919-72G>T
gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGAGGCA995718406RYR1c.7836-71_7836-70insCAGGGGCAGAGG (n.7836-71_7836-70insCAGGGGCAGAGG)
c.7833-71_7833-70insCAGGGGCAGAGG (n.7833-71_7833-70insCAGGGGCAGAGG)
c.1288-71_1288-70insCAGGGGCAGAGG
n.7919-71_7919-70insCAGGGGCAGAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502808_38502814delinsGGGAGGACA2335054674RYR1c.7836-72_7836-66delinsGGGAGGA (n.7836-72_7836-66delinsGGGAGGA)
c.7833-72_7833-66delinsGGGAGGA (n.7833-72_7833-66delinsGGGAGGA)
c.1288-72_1288-66delinsGGGAGGA
n.7919-72_7919-66delinsGGGAGGA
19g.38502809_38502815delCA2584900922RYR1c.7836-71_7836-65del (n.7836-71_7836-65del)
c.7833-71_7833-65del (n.7833-71_7833-65del)
c.1288-71_1288-65del
n.7919-71_7919-65del
gnomAD v4
19g.38502808_38502816delinsGGGAGGAGCCA2335054673RYR1c.7836-72_7836-64delinsGGGAGGAGC (n.7836-72_7836-64delinsGGGAGGAGC)
c.7833-72_7833-64delinsGGGAGGAGC (n.7833-72_7833-64delinsGGGAGGAGC)
c.1288-72_1288-64delinsGGGAGGAGC
n.7919-72_7919-64delinsGGGAGGAGC
19g.38502818_38502819insTGGGAGGAGCAGCA2584900923RYR1c.7836-62_7836-61insTGGGAGGAGCAG (n.7836-62_7836-61insTGGGAGGAGCAG)
c.7833-62_7833-61insTGGGAGGAGCAG (n.7833-62_7833-61insTGGGAGGAGCAG)
c.1288-62_1288-61insTGGGAGGAGCAG
n.7919-62_7919-61insTGGGAGGAGCAG
gnomAD v4
19g.38502808_38502829delinsGGGAGGAGCAGGGGCAGGGGCACA2335054670RYR1c.7836-72_7836-51delinsGGGAGGAGCAGGGGCAGGGGCA (n.7836-72_7836-51delinsGGGAGGAGCAGGGGCAGGGGCA)
c.7833-72_7833-51delinsGGGAGGAGCAGGGGCAGGGGCA (n.7833-72_7833-51delinsGGGAGGAGCAGGGGCAGGGGCA)
c.1288-72_1288-51delinsGGGAGGAGCAGGGGCAGGGGCA
n.7919-72_7919-51delinsGGGAGGAGCAGGGGCAGGGGCA
19g.38502808_38502831delCA920105621RYR1c.7836-72_7836-49del (n.7836-72_7836-49del)
c.7833-72_7833-49del (n.7833-72_7833-49del)
c.1288-72_1288-49del
n.7919-72_7919-49del
dbSNP
19g.38502808_38502809insCACA2584900935RYR1c.7836-72_7836-71insCA (n.7836-72_7836-71insCA)
c.7833-72_7833-71insCA (n.7833-72_7833-71insCA)
c.1288-72_1288-71insCA
n.7919-72_7919-71insCA
gnomAD v4
19g.38502809G>ACA308112956RYR1c.7836-71G>A (n.7836-71G>A)
c.7833-71G>A (n.7833-71G>A)
c.1288-71G>A
n.7919-71G>A
dbSNP gnomAD v3 gnomAD v4
19g.38502809G>CCA633066315RYR1c.7836-71G>C (n.7836-71G>C)
c.7833-71G>C (n.7833-71G>C)
c.1288-71G>C
n.7919-71G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809G=CA2335054676RYR1c.7836-71G= (n.7836-71G=)
c.7833-71G= (n.7833-71G=)
c.1288-71G=
n.7919-71G=
19g.38502809G>TCA2584900927RYR1c.7836-71G>T (n.7836-71G>T)
c.7833-71G>T (n.7833-71G>T)
c.1288-71G>T
n.7919-71G>T
gnomAD v4
19g.38502809_38502810insCAGCA2584900934RYR1c.7836-71_7836-70insCAG (n.7836-71_7836-70insCAG)
c.7833-71_7833-70insCAG (n.7833-71_7833-70insCAG)
c.1288-71_1288-70insCAG
n.7919-71_7919-70insCAG
gnomAD v4
19g.38502809_38502810insCAGGAGCA2335054680RYR1c.7836-71_7836-70insCAGGAG (n.7836-71_7836-70insCAGGAG)
c.7833-71_7833-70insCAGGAG (n.7833-71_7833-70insCAGGAG)
c.1288-71_1288-70insCAGGAG
n.7919-71_7919-70insCAGGAG
dbSNP
19g.38502809_38502810insCAGGGGCAGCA2558193582RYR1c.7836-71_7836-70insCAGGGGCAG (n.7836-71_7836-70insCAGGGGCAG)
c.7833-71_7833-70insCAGGGGCAG (n.7833-71_7833-70insCAGGGGCAG)
c.1288-71_1288-70insCAGGGGCAG
n.7919-71_7919-70insCAGGGGCAG
gnomAD v4
19g.38502809_38502810insCAGGAGCAGGAGCA2335054679RYR1c.7836-71_7836-70insCAGGAGCAGGAG (n.7836-71_7836-70insCAGGAGCAGGAG)
c.7833-71_7833-70insCAGGAGCAGGAG (n.7833-71_7833-70insCAGGAGCAGGAG)
c.1288-71_1288-70insCAGGAGCAGGAG
n.7919-71_7919-70insCAGGAGCAGGAG
dbSNP
19g.38502809_38502810insCAGGGGCAGGAGCA2335054678RYR1c.7836-71_7836-70insCAGGGGCAGGAG (n.7836-71_7836-70insCAGGGGCAGGAG)
c.7833-71_7833-70insCAGGGGCAGGAG (n.7833-71_7833-70insCAGGGGCAGGAG)
c.1288-71_1288-70insCAGGGGCAGGAG
n.7919-71_7919-70insCAGGGGCAGGAG
dbSNP
19g.38502809_38502810insCAGGGGGAGGAGCA2584900930RYR1c.7836-71_7836-70insCAGGGGGAGGAG (n.7836-71_7836-70insCAGGGGGAGGAG)
c.7833-71_7833-70insCAGGGGGAGGAG (n.7833-71_7833-70insCAGGGGGAGGAG)
c.1288-71_1288-70insCAGGGGGAGGAG
n.7919-71_7919-70insCAGGGGGAGGAG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGCA2584900926RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAG (n.7836-71_7836-70insCAGGGGCAGGGGGAG)
c.7833-71_7833-70insCAGGGGCAGGGGGAG (n.7833-71_7833-70insCAGGGGCAGGGGGAG)
c.1288-71_1288-70insCAGGGGCAGGGGGAG
n.7919-71_7919-70insCAGGGGCAGGGGGAG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGAGCA995718412RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGAG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGAG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGAG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGAG
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGGAGGAGCA2584900931RYR1c.7836-71_7836-70insCAGGGGCAGGGGGAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAG)
c.7833-71_7833-70insCAGGGGCAGGGGGAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAG)
c.1288-71_1288-70insCAGGGGCAGGGGGAGGAG
n.7919-71_7919-70insCAGGGGCAGGGGGAGGAG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGAGCA2584900933RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGAG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGAG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGAG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGAG
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCA2584900932RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAG)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAG)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAG
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAG
gnomAD v4
19g.38502809_38502814delinsGGAGGACA2335054677RYR1c.7836-71_7836-66delinsGGAGGA (n.7836-71_7836-66delinsGGAGGA)
c.7833-71_7833-66delinsGGAGGA (n.7833-71_7833-66delinsGGAGGA)
c.1288-71_1288-66delinsGGAGGA
n.7919-71_7919-66delinsGGAGGA
19g.38502813_38502815dupCA2335054682RYR1c.7836-67_7836-65dup (n.7836-67_7836-65dup)
c.7833-67_7833-65dup (n.7833-67_7833-65dup)
c.1288-67_1288-65dup
n.7919-67_7919-65dup
dbSNP gnomAD v4
19g.38502810_38502815dupCA2584900929RYR1c.7836-70_7836-65dup (n.7836-70_7836-65dup)
c.7833-70_7833-65dup (n.7833-70_7833-65dup)
c.1288-70_1288-65dup
n.7919-70_7919-65dup
gnomAD v4
19g.38502813_38502815delCA2335054681RYR1c.7836-67_7836-65del (n.7836-67_7836-65del)
c.7833-67_7833-65del (n.7833-67_7833-65del)
c.1288-67_1288-65del
n.7919-67_7919-65del
dbSNP gnomAD v4
19g.38502810_38502815delCA308112961RYR1c.7836-70_7836-65del (n.7836-70_7836-65del)
c.7833-70_7833-65del (n.7833-70_7833-65del)
c.1288-70_1288-65del
n.7919-70_7919-65del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502816delCA308112957RYR1c.7836-71_7836-64del (n.7836-71_7836-64del)
c.7833-71_7833-64del (n.7833-71_7833-64del)
c.1288-71_1288-64del
n.7919-71_7919-64del
dbSNP
19g.38502809_38502816delinsGGAGGAGCCA2335054675RYR1c.7836-71_7836-64delinsGGAGGAGC (n.7836-71_7836-64delinsGGAGGAGC)
c.7833-71_7833-64delinsGGAGGAGC (n.7833-71_7833-64delinsGGAGGAGC)
c.1288-71_1288-64delinsGGAGGAGC
n.7919-71_7919-64delinsGGAGGAGC
19g.38502819_38502820insAGGAGGAGCAGGCA2584900928RYR1c.7836-61_7836-60insAGGAGGAGCAGG (n.7836-61_7836-60insAGGAGGAGCAGG)
c.7833-61_7833-60insAGGAGGAGCAGG (n.7833-61_7833-60insAGGAGGAGCAGG)
c.1288-61_1288-60insAGGAGGAGCAGG
n.7919-61_7919-60insAGGAGGAGCAGG
gnomAD v4
19g.38502810_38502830delCA995718415RYR1c.7836-70_7836-50del (n.7836-70_7836-50del)
c.7833-70_7833-50del (n.7833-70_7833-50del)
c.1288-70_1288-50del
n.7919-70_7919-50del
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCACA633066316RYR1c.7836-71_7836-70insCA (n.7836-71_7836-70insCA)
c.7833-71_7833-70insCA (n.7833-71_7833-70insCA)
c.1288-71_1288-70insCA
n.7919-71_7919-70insCA
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGACA2335054687RYR1c.7836-71_7836-70insCAGGGA (n.7836-71_7836-70insCAGGGA)
c.7833-71_7833-70insCAGGGA (n.7833-71_7833-70insCAGGGA)
c.1288-71_1288-70insCAGGGA
n.7919-71_7919-70insCAGGGA
dbSNP gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGACA995718441RYR1c.7836-71_7836-70insCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGA)
c.7833-71_7833-70insCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGA)
c.1288-71_1288-70insCAGGGGCAGGGA
n.7919-71_7919-70insCAGGGGCAGGGA
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGGAGGAGCAGGGACA2584900936RYR1c.7836-71_7836-70insCAGGGGGAGGAGCAGGGA (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGA)
c.7833-71_7833-70insCAGGGGGAGGAGCAGGGA (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGA)
c.1288-71_1288-70insCAGGGGGAGGAGCAGGGA
n.7919-71_7919-70insCAGGGGGAGGAGCAGGGA
gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGACA995718426RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGA)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGA)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGA
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGA
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGACA995718436RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGA)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGA)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGA
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGA
dbSNP gnomAD v3 gnomAD v4
19g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGACA633066317RYR1c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA)
c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA)
c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA
n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810G>ACA882054240RYR1c.7836-70G>A (n.7836-70G>A)
c.7833-70G>A (n.7833-70G>A)
c.1288-70G>A
n.7919-70G>A
dbSNP gnomAD v4
19g.38502810G>CCA024863RYR1c.7836-70G>C (n.7836-70G>C)
c.7833-70G>C (n.7833-70G>C)
c.1288-70G>C
n.7919-70G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502810G=CA2335054684RYR1c.7836-70G= (n.7836-70G=)
c.7833-70G= (n.7833-70G=)
c.1288-70G=
n.7919-70G=
19g.38502810G>TCA882054241RYR1c.7836-70G>T (n.7836-70G>T)
c.7833-70G>T (n.7833-70G>T)
c.1288-70G>T
n.7919-70G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502811_38502815delCA920105622RYR1c.7836-69_7836-65del (n.7836-69_7836-65del)
c.7833-69_7833-65del (n.7833-69_7833-65del)
c.1288-69_1288-65del
n.7919-69_7919-65del
dbSNP gnomAD v4
19g.38502810_38502816delCA2335054688RYR1c.7836-70_7836-64del (n.7836-70_7836-64del)
c.7833-70_7833-64del (n.7833-70_7833-64del)
c.1288-70_1288-64del
n.7919-70_7919-64del
dbSNP gnomAD v4
19g.38502810_38502816delinsGAGGAGCCA2335054686RYR1c.7836-70_7836-64delinsGAGGAGC (n.7836-70_7836-64delinsGAGGAGC)
c.7833-70_7833-64delinsGAGGAGC (n.7833-70_7833-64delinsGAGGAGC)
c.1288-70_1288-64delinsGAGGAGC
n.7919-70_7919-64delinsGAGGAGC
19g.38502810_38502822delinsGAGGAGCAGGGGCCA2335054685RYR1c.7836-70_7836-58delinsGAGGAGCAGGGGC (n.7836-70_7836-58delinsGAGGAGCAGGGGC)
c.7833-70_7833-58delinsGAGGAGCAGGGGC (n.7833-70_7833-58delinsGAGGAGCAGGGGC)
c.1288-70_1288-58delinsGAGGAGCAGGGGC
n.7919-70_7919-58delinsGAGGAGCAGGGGC
19g.38502810_38502828delinsGAGGAGCAGGGGCAGGGGCCA2335054683RYR1c.7836-70_7836-52delinsGAGGAGCAGGGGCAGGGGC (n.7836-70_7836-52delinsGAGGAGCAGGGGCAGGGGC)
c.7833-70_7833-52delinsGAGGAGCAGGGGCAGGGGC (n.7833-70_7833-52delinsGAGGAGCAGGGGCAGGGGC)
c.1288-70_1288-52delinsGAGGAGCAGGGGCAGGGGC
n.7919-70_7919-52delinsGAGGAGCAGGGGCAGGGGC

Number of alleles fetched