Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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
19g.38502813_38502830delCA995718486RYR1c.7836-67_7836-50del (n.7836-67_7836-50del)
c.7833-67_7833-50del (n.7833-67_7833-50del)
c.1288-67_1288-50del
n.7919-67_7919-50del
dbSNP gnomAD v3 gnomAD v4
19g.38502813_38502831delinsGAGCAGGGGCAGGGGCAGCCA2335054693RYR1c.7836-67_7836-49delinsGAGCAGGGGCAGGGGCAGC (n.7836-67_7836-49delinsGAGCAGGGGCAGGGGCAGC)
c.7833-67_7833-49delinsGAGCAGGGGCAGGGGCAGC (n.7833-67_7833-49delinsGAGCAGGGGCAGGGGCAGC)
c.1288-67_1288-49delinsGAGCAGGGGCAGGGGCAGC
n.7919-67_7919-49delinsGAGCAGGGGCAGGGGCAGC
19g.38502816_38502833delCA2335054699RYR1c.7836-64_7836-47del (n.7836-64_7836-47del)
c.7833-64_7833-47del (n.7833-64_7833-47del)
c.1288-64_1288-47del
n.7919-64_7919-47del
dbSNP gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGCA2584900976RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGCA2584900977RYR1c.7836-50_7836-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGCA995718589RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG
gnomAD v3 gnomAD v4
19g.38502825_38502830dupCA308112974RYR1c.7836-55_7836-50dup (n.7836-55_7836-50dup)
c.7833-55_7833-50dup (n.7833-55_7833-50dup)
c.1288-55_1288-50dup
n.7919-55_7919-50dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502819_38502830dupCA995718557RYR1c.7836-61_7836-50dup (n.7836-61_7836-50dup)
c.7833-61_7833-50dup (n.7833-61_7833-50dup)
c.1288-61_1288-50dup
n.7919-61_7919-50dup
dbSNP gnomAD v3 gnomAD v4
19g.38502825_38502830delCA2576771135RYR1c.7836-55_7836-50del (n.7836-55_7836-50del)
c.7833-55_7833-50del (n.7833-55_7833-50del)
c.1288-55_1288-50del
n.7919-55_7919-50del
gnomAD v4
19g.38502819_38502830delCA882054274RYR1c.7836-61_7836-50del (n.7836-61_7836-50del)
c.7833-61_7833-50del (n.7833-61_7833-50del)
c.1288-61_1288-50del
n.7919-61_7919-50del
dbSNP gnomAD v4
19g.38502816_38502829delCA2584900988RYR1c.7836-64_7836-51del (n.7836-64_7836-51del)
c.7833-64_7833-51del (n.7833-64_7833-51del)
c.1288-64_1288-51del
n.7919-64_7919-51del
gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGGGGCAGCA995718685RYR1c.7836-50_7836-49insGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGCAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGGGCAGGGGCAGCA995718690RYR1c.7836-50_7836-49insGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGGGCAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGCAGCA2584901018RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901020RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGCA2584901017RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAGCA2584901016RYR1c.7836-50_7836-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901019RYR1c.7836-50_7836-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901022RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGCA2525411784RYR1c.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGCA2584901023RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAGCA2504081048RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG
19g.38502820_38502839delCA2584901038RYR1c.7836-60_7836-41del (n.7836-60_7836-41del)
c.7833-60_7833-41del (n.7833-60_7833-41del)
c.1288-60_1288-41del
n.7919-60_7919-41del
gnomAD v4
19g.38502823_38502840delCA2584901039RYR1c.7836-57_7836-40del (n.7836-57_7836-40del)
c.7833-57_7833-40del (n.7833-57_7833-40del)
c.1288-57_1288-40del
n.7919-57_7919-40del
gnomAD v4
19g.38502820_38502828delinsGGCAGGGGCCA2335054714RYR1c.7836-60_7836-52delinsGGCAGGGGC (n.7836-60_7836-52delinsGGCAGGGGC)
c.7833-60_7833-52delinsGGCAGGGGC (n.7833-60_7833-52delinsGGCAGGGGC)
c.1288-60_1288-52delinsGGCAGGGGC
n.7919-60_7919-52delinsGGCAGGGGC
19g.38502821_38502828delCA995718718RYR1c.7836-59_7836-52del (n.7836-59_7836-52del)
c.7833-59_7833-52del (n.7833-59_7833-52del)
c.1288-59_1288-52del
n.7919-59_7919-52del
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGAGCAGGGGCAGCA2584901048RYR1c.7836-50_7836-49insGGGGAGGAGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGAGCAGGGGCAG)
c.7833-50_7833-49insGGGGAGGAGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGAGCAGGGGCAG)
c.1288-50_1288-49insGGGGAGGAGCAGGGGCAG
n.7919-50_7919-49insGGGGAGGAGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGAGCAGGGGCAGCA2584901049RYR1c.7836-50_7836-49insGGGCAGGGGGAGGAGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGAGCAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGAGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGAGCAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGAGCAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGAGCAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGCA995718779RYR1c.7836-50_7836-49insGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGGGCAGCA995718776RYR1c.7836-50_7836-49insGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGGGCAG
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGCA2584901067RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAGCA995718782RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGCAGCA2584901064RYR1c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGCA2582145393RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGCA2814347345RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718780RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718777RYR1c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGCA2584901059RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718778RYR1c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901066RYR1c.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGCA2584901068RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901061RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA995718769RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901052RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGCA2584901057RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901065RYR1c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAGCA2584901053RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901062RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901063RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGCA2584901060RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCCGGGGCAGCA2584901071RYR1c.7836-50_7836-49insGGGCAGGGGCCGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCCGGGGCAG)
c.7833-50_7833-49insGGGCAGGGGCCGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCCGGGGCAG)
c.1288-50_1288-49insGGGCAGGGGCCGGGGCAG
n.7919-50_7919-49insGGGCAGGGGCCGGGGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGGGGGGGGGGCAGCA2584901070RYR1c.7836-50_7836-49insGGGGAGGGGCAGGGGGGGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGGGGGGCAG)
c.7833-50_7833-49insGGGGAGGGGCAGGGGGGGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGGGGGGCAG)
c.1288-50_1288-49insGGGGAGGGGCAGGGGGGGGGGCAG
n.7919-50_7919-49insGGGGAGGGGCAGGGGGGGGGGCAG
gnomAD v4
19g.38502826_38502839delCA2584901072RYR1c.7836-54_7836-41del (n.7836-54_7836-41del)
c.7833-54_7833-41del (n.7833-54_7833-41del)
c.1288-54_1288-41del
n.7919-54_7919-41del
gnomAD v4
19g.38502825_38502828delinsGGGCCA2335054724RYR1c.7836-55_7836-52delinsGGGC (n.7836-55_7836-52delinsGGGC)
c.7833-55_7833-52delinsGGGC (n.7833-55_7833-52delinsGGGC)
c.1288-55_1288-52delinsGGGC
n.7919-55_7919-52delinsGGGC
19g.38502826_38502830delCA2814347346RYR1c.7836-54_7836-50del (n.7836-54_7836-50del)
c.7833-54_7833-50del (n.7833-54_7833-50del)
c.1288-54_1288-50del
n.7919-54_7919-50del
19g.38502825_38502834delinsGGGCAGCAGACA2335054722RYR1c.7836-55_7836-46delinsGGGCAGCAGA (n.7836-55_7836-46delinsGGGCAGCAGA)
c.7833-55_7833-46delinsGGGCAGCAGA (n.7833-55_7833-46delinsGGGCAGCAGA)
c.1288-55_1288-46delinsGGGCAGCAGA
n.7919-55_7919-46delinsGGGCAGCAGA
19g.38502829_38502840delCA995718822RYR1c.7836-51_7836-40del (n.7836-51_7836-40del)
c.7833-51_7833-40del (n.7833-51_7833-40del)
c.1288-51_1288-40del
n.7919-51_7919-40del
gnomAD v3 gnomAD v4
19g.38502826_38502828delCA882054313RYR1c.7836-54_7836-52del (n.7836-54_7836-52del)
c.7833-54_7833-52del (n.7833-54_7833-52del)
c.1288-54_1288-52del
n.7919-54_7919-52del
dbSNP gnomAD v3 gnomAD v4
19g.38502826_38502828dupCA995718845RYR1c.7836-54_7836-52dup (n.7836-54_7836-52dup)
c.7833-54_7833-52dup (n.7833-54_7833-52dup)
c.1288-54_1288-52dup
n.7919-54_7919-52dup
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGCGGCAGCA995718841RYR1c.7836-50_7836-49insGGGCAGCGGCAG (n.7836-50_7836-49insGGGCAGCGGCAG)
c.7833-50_7833-49insGGGCAGCGGCAG (n.7833-50_7833-49insGGGCAGCGGCAG)
c.1288-50_1288-49insGGGCAGCGGCAG
n.7919-50_7919-49insGGGCAGCGGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502826_38502831delCA2584901073RYR1c.7836-54_7836-49del (n.7836-54_7836-49del)
c.7833-54_7833-49del (n.7833-54_7833-49del)
c.1288-54_1288-49del
n.7919-54_7919-49del
gnomAD v4
19g.38502826_38502831dupCA633066337RYR1c.7836-54_7836-49dup (n.7836-54_7836-49dup)
c.7833-54_7833-49dup (n.7833-54_7833-49dup)
c.1288-54_1288-49dup
n.7919-54_7919-49dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502827_38502835delCA995718842RYR1c.7836-53_7836-45del (n.7836-53_7836-45del)
c.7833-53_7833-45del (n.7833-53_7833-45del)
c.1288-53_1288-45del
n.7919-53_7919-45del
dbSNP gnomAD v3 gnomAD v4
19g.38502828_38502838delCA995718840RYR1c.7836-52_7836-42del (n.7836-52_7836-42del)
c.7833-52_7833-42del (n.7833-52_7833-42del)
c.1288-52_1288-42del
n.7919-52_7919-42del
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGCAGCAGCA995718847RYR1c.7836-50_7836-49insGGGCAGCAGCAG (n.7836-50_7836-49insGGGCAGCAGCAG)
c.7833-50_7833-49insGGGCAGCAGCAG (n.7833-50_7833-49insGGGCAGCAGCAG)
c.1288-50_1288-49insGGGCAGCAGCAG
n.7919-50_7919-49insGGGCAGCAGCAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGAGCAGCA2584901084RYR1c.7836-50_7836-49insGGGCAGGAGCAG (n.7836-50_7836-49insGGGCAGGAGCAG)
c.7833-50_7833-49insGGGCAGGAGCAG (n.7833-50_7833-49insGGGCAGGAGCAG)
c.1288-50_1288-49insGGGCAGGAGCAG
n.7919-50_7919-49insGGGCAGGAGCAG
gnomAD v4
19g.38502830_38502831insGGGGAGGAGCAGCA2584901079RYR1c.7836-50_7836-49insGGGGAGGAGCAG (n.7836-50_7836-49insGGGGAGGAGCAG)
c.7833-50_7833-49insGGGGAGGAGCAG (n.7833-50_7833-49insGGGGAGGAGCAG)
c.1288-50_1288-49insGGGGAGGAGCAG
n.7919-50_7919-49insGGGGAGGAGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGCAGCAGCA2584901082RYR1c.7836-50_7836-49insGGGCAGGGGCAGCAGCAG (n.7836-50_7836-49insGGGCAGGGGCAGCAGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGCAGCAG (n.7833-50_7833-49insGGGCAGGGGCAGCAGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGCAGCAG
n.7919-50_7919-49insGGGCAGGGGCAGCAGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGGAGCAGCA2584901080RYR1c.7836-50_7836-49insGGGCAGGGGGAGGAGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGAGCAG)
c.7833-50_7833-49insGGGCAGGGGGAGGAGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGAGCAG)
c.1288-50_1288-49insGGGCAGGGGGAGGAGCAG
n.7919-50_7919-49insGGGCAGGGGGAGGAGCAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGCA2584901083RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG
gnomAD v4
19g.38502828_38502833dupCA2335054726RYR1c.7836-52_7836-47dup (n.7836-52_7836-47dup)
c.7833-52_7833-47dup (n.7833-52_7833-47dup)
c.1288-52_1288-47dup
n.7919-52_7919-47dup
dbSNP gnomAD v4
19g.38502831_38502833delCA995718850RYR1c.7836-49_7836-47del (n.7836-49_7836-47del)
c.7833-49_7833-47del (n.7833-49_7833-47del)
c.1288-49_1288-47del
n.7919-49_7919-47del
gnomAD v3 gnomAD v4
19g.38502828C>ACA2335054730RYR1c.7836-52C>A (n.7836-52C>A)
c.7833-52C>A (n.7833-52C>A)
c.1288-52C>A
n.7919-52C>A
dbSNP gnomAD v4
19g.38502828C=CA2335054729RYR1c.7836-52C= (n.7836-52C=)
c.7833-52C= (n.7833-52C=)
c.1288-52C=
n.7919-52C=
19g.38502828C>GCA308113042RYR1c.7836-52C>G (n.7836-52C>G)
c.7833-52C>G (n.7833-52C>G)
c.1288-52C>G
n.7919-52C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502828C>TCA2335054728RYR1c.7836-52C>T (n.7836-52C>T)
c.7833-52C>T (n.7833-52C>T)
c.1288-52C>T
n.7919-52C>T
dbSNP gnomAD v3 gnomAD v4
19g.38502828_38502829delCA2582145395RYR1c.7836-52_7836-51del (n.7836-52_7836-51del)
c.7833-52_7833-51del (n.7833-52_7833-51del)
c.1288-52_1288-51del
n.7919-52_7919-51del
gnomAD v3 gnomAD v4
19g.38502828_38502832delCA633066338RYR1c.7836-52_7836-48del (n.7836-52_7836-48del)
c.7833-52_7833-48del (n.7833-52_7833-48del)
c.1288-52_1288-48del
n.7919-52_7919-48del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502829A=CA2335054731RYR1c.7836-51A= (n.7836-51A=)
c.7833-51A= (n.7833-51A=)
c.1288-51A=
n.7919-51A=
19g.38502829A>CCA2584901089RYR1c.7836-51A>C (n.7836-51A>C)
c.7833-51A>C (n.7833-51A>C)
c.1288-51A>C
n.7919-51A>C
dbSNP gnomAD v4
19g.38502829A>TCA2519413435RYR1c.7836-51A>T (n.7836-51A>T)
c.7833-51A>T (n.7833-51A>T)
c.1288-51A>T
n.7919-51A>T
19g.38502830_38502831insGGGGAGCA995718869RYR1c.7836-50_7836-49insGGGGAG (n.7836-50_7836-49insGGGGAG)
c.7833-50_7833-49insGGGGAG (n.7833-50_7833-49insGGGGAG)
c.1288-50_1288-49insGGGGAG
n.7919-50_7919-49insGGGGAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGTAGCA2584901088RYR1c.7836-50_7836-49insGGGTAG (n.7836-50_7836-49insGGGTAG)
c.7833-50_7833-49insGGGTAG (n.7833-50_7833-49insGGGTAG)
c.1288-50_1288-49insGGGTAG
n.7919-50_7919-49insGGGTAG
gnomAD v4
19g.38502830_38502831insGGGGAGGAGCA995718873RYR1c.7836-50_7836-49insGGGGAGGAG (n.7836-50_7836-49insGGGGAGGAG)
c.7833-50_7833-49insGGGGAGGAG (n.7833-50_7833-49insGGGGAGGAG)
c.1288-50_1288-49insGGGGAGGAG
n.7919-50_7919-49insGGGGAGGAG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGGAGCA2584901087RYR1c.7836-50_7836-49insGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGGAG)
c.7833-50_7833-49insGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGGAG)
c.1288-50_1288-49insGGGCAGGGGGAG
n.7919-50_7919-49insGGGCAGGGGGAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGGAGCA2584901086RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGGAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGGAG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGCA2584901085RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG
gnomAD v4
19g.38502829_38502847delinsAGCAGAGCGGGCCTGGACGCA2335054732RYR1c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG (n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG)
c.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG (n.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG)
c.1288-51_1288-33delinsAGCAGAGCGGGCCTGGACG
n.7919-51_7919-33delinsAGCAGAGCGGGCCTGGACG
19g.38502830G>ACA995718879RYR1c.7836-50G>A (n.7836-50G>A)
c.7833-50G>A (n.7833-50G>A)
c.1288-50G>A
n.7919-50G>A
dbSNP gnomAD v4
19g.38502830G>CCA2584901095RYR1c.7836-50G>C (n.7836-50G>C)
c.7833-50G>C (n.7833-50G>C)
c.1288-50G>C
n.7919-50G>C
gnomAD v4
19g.38502830G=CA2335054734RYR1c.7836-50G= (n.7836-50G=)
c.7833-50G= (n.7833-50G=)
c.1288-50G=
n.7919-50G=
19g.38502830G>TCA2584901096RYR1c.7836-50G>T (n.7836-50G>T)
c.7833-50G>T (n.7833-50G>T)
c.1288-50G>T
n.7919-50G>T
gnomAD v4
19g.38502830_38502831insGGGCA633066339RYR1c.7836-50_7836-49insGGG (n.7836-50_7836-49insGGG)
c.7833-50_7833-49insGGG (n.7833-50_7833-49insGGG)
c.1288-50_1288-49insGGG
n.7919-50_7919-49insGGG
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCCGCA2735916232RYR1c.7836-50_7836-49insGGGCCG (n.7836-50_7836-49insGGGCCG)
c.7833-50_7833-49insGGGCCG (n.7833-50_7833-49insGGGCCG)
c.1288-50_1288-49insGGGCCG
n.7919-50_7919-49insGGGCCG
dbSNP
19g.38502830_38502831insGGGGAGGCA995718904RYR1c.7836-50_7836-49insGGGGAGG (n.7836-50_7836-49insGGGGAGG)
c.7833-50_7833-49insGGGGAGG (n.7833-50_7833-49insGGGGAGG)
c.1288-50_1288-49insGGGGAGG
n.7919-50_7919-49insGGGGAGG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCA995718912RYR1c.7836-50_7836-49insGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGG)
c.7833-50_7833-49insGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGG)
c.1288-50_1288-49insGGGCAGGGG
n.7919-50_7919-49insGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGGGCA633066341RYR1c.7836-50_7836-49insGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGG)
c.7833-50_7833-49insGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGG)
c.1288-50_1288-49insGGGGAGGGG
n.7919-50_7919-49insGGGGAGGGG
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGGGGGGCA2584901093RYR1c.7836-50_7836-49insGGGGGGGGG (n.7836-50_7836-49insGGGGGGGGG)
c.7833-50_7833-49insGGGGGGGGG (n.7833-50_7833-49insGGGGGGGGG)
c.1288-50_1288-49insGGGGGGGGG
n.7919-50_7919-49insGGGGGGGGG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGCA2584901090RYR1c.7836-50_7836-49insGGGGAGGGGGAGG (n.7836-50_7836-49insGGGGAGGGGGAGG)
c.7833-50_7833-49insGGGGAGGGGGAGG (n.7833-50_7833-49insGGGGAGGGGGAGG)
c.1288-50_1288-49insGGGGAGGGGGAGG
n.7919-50_7919-49insGGGGAGGGGGAGG
gnomAD v4
19g.38502830_38502831insGGAGAGGAGCAGGGGCA995718921RYR1c.7836-50_7836-49insGGAGAGGAGCAGGGG (n.7836-50_7836-49insGGAGAGGAGCAGGGG)
c.7833-50_7833-49insGGAGAGGAGCAGGGG (n.7833-50_7833-49insGGAGAGGAGCAGGGG)
c.1288-50_1288-49insGGAGAGGAGCAGGGG
n.7919-50_7919-49insGGAGAGGAGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCA633066343RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGG)
c.7833-50_7833-49insGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGG)
c.1288-50_1288-49insGGGCAGGGGCAGGGG
n.7919-50_7919-49insGGGCAGGGGCAGGGG
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGAGCAGGGGCA2584901097RYR1c.7836-50_7836-49insGGGGAGGAGCAGGGG (n.7836-50_7836-49insGGGGAGGAGCAGGGG)
c.7833-50_7833-49insGGGGAGGAGCAGGGG (n.7833-50_7833-49insGGGGAGGAGCAGGGG)
c.1288-50_1288-49insGGGGAGGAGCAGGGG
n.7919-50_7919-49insGGGGAGGAGCAGGGG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGCAGGGGCA2584901099RYR1c.7836-50_7836-49insGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGCAGGGG)
c.7833-50_7833-49insGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGCAGGGG)
c.1288-50_1288-49insGGGGAGGGGCAGGGG
n.7919-50_7919-49insGGGGAGGGGCAGGGG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGCA2584901091RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGG)
c.7833-50_7833-49insGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGG)
c.1288-50_1288-49insGGGGAGGGGGAGGGG
n.7919-50_7919-49insGGGGAGGGGGAGGGG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGCA995718888RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGG
n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCA633066344RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGG
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCA2584901092RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGG
gnomAD v4
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGCA633066345RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCA995718910RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG
dbSNP gnomAD v3 gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA633066340RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v2
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA2535606458RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG
gnomAD v4
19g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGCA2505809630RYR1c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG)
c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG
19g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCA995718882RYR1c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG)
c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG)
c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG
n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG
gnomAD v3 gnomAD v4
19g.38502830dupCA2584901098RYR1c.7836-50dup (n.7836-50dup)
c.7833-50dup (n.7833-50dup)
c.1288-50dup
n.7919-50dup
gnomAD v4
19g.38502830_38502832delinsGCACA2335054733RYR1c.7836-50_7836-48delinsGCA (n.7836-50_7836-48delinsGCA)
c.7833-50_7833-48delinsGCA (n.7833-50_7833-48delinsGCA)
c.1288-50_1288-48delinsGCA
n.7919-50_7919-48delinsGCA
19g.38502830_38502836delinsGCAGAGCCA2335054735RYR1c.7836-50_7836-44delinsGCAGAGC (n.7836-50_7836-44delinsGCAGAGC)
c.7833-50_7833-44delinsGCAGAGC (n.7833-50_7833-44delinsGCAGAGC)
c.1288-50_1288-44delinsGCAGAGC
n.7919-50_7919-44delinsGCAGAGC
19g.38502831_38502847delCA2584901094RYR1c.7836-49_7836-33del (n.7836-49_7836-33del)
c.7833-49_7833-33del (n.7833-49_7833-33del)
c.1288-49_1288-33del
n.7919-49_7919-33del
gnomAD v4
19g.38502831_38502848delCA633066342RYR1c.7836-49_7836-32del (n.7836-49_7836-32del)
c.7833-49_7833-32del (n.7833-49_7833-32del)
c.1288-49_1288-32del
n.7919-49_7919-32del
dbSNP gnomAD v2 gnomAD v4
19g.38502831delCA633066346RYR1c.7836-49del (n.7836-49del)
c.7833-49del (n.7833-49del)
c.1288-49del
n.7919-49del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502831C>ACA2584901100RYR1c.7836-49C>A (n.7836-49C>A)
c.7833-49C>A (n.7833-49C>A)
c.1288-49C>A
n.7919-49C>A
gnomAD v4
19g.38502831C=CA2335054736RYR1c.7836-49C= (n.7836-49C=)
c.7833-49C= (n.7833-49C=)
c.1288-49C=
n.7919-49C=
19g.38502831C>GCA070714RYR1c.7836-49C>G (n.7836-49C>G)
c.7833-49C>G (n.7833-49C>G)
c.1288-49C>G
n.7919-49C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502831C>TCA070720RYR1c.7836-49C>T (n.7836-49C>T)
c.7833-49C>T (n.7833-49C>T)
c.1288-49C>T
n.7919-49C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502831_38502832delCA633066347RYR1c.7836-49_7836-48del (n.7836-49_7836-48del)
c.7833-49_7833-48del (n.7833-49_7833-48del)
c.1288-49_1288-48del
n.7919-49_7919-48del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502831_38502834delinsCAGACA2335054737RYR1c.7836-49_7836-46delinsCAGA (n.7836-49_7836-46delinsCAGA)
c.7833-49_7833-46delinsCAGA (n.7833-49_7833-46delinsCAGA)
c.1288-49_1288-46delinsCAGA
n.7919-49_7919-46delinsCAGA
19g.38502831_38502836delCA633066348RYR1c.7836-49_7836-44del (n.7836-49_7836-44del)
c.7833-49_7833-44del (n.7833-49_7833-44del)
c.1288-49_1288-44del
n.7919-49_7919-44del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502831_38502846delCA995718931RYR1c.7836-49_7836-34del (n.7836-49_7836-34del)
c.7833-49_7833-34del (n.7833-49_7833-34del)
c.1288-49_1288-34del
n.7919-49_7919-34del
gnomAD v3 gnomAD v4
19g.38502832A=CA2335054738RYR1c.7836-48A= (n.7836-48A=)
c.7833-48A= (n.7833-48A=)
c.1288-48A=
n.7919-48A=
19g.38502832A>CCA633066349RYR1c.7836-48A>C (n.7836-48A>C)
c.7833-48A>C (n.7833-48A>C)
c.1288-48A>C
n.7919-48A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502832A>GCA633066350RYR1c.7836-48A>G (n.7836-48A>G)
c.7833-48A>G (n.7833-48A>G)
c.1288-48A>G
n.7919-48A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502832A>TCA2584901103RYR1c.7836-48A>T (n.7836-48A>T)
c.7833-48A>T (n.7833-48A>T)
c.1288-48A>T
n.7919-48A>T
dbSNP gnomAD v4
19g.38502833_38502834insGGGCAGGGGGAGGAGCA2540190470RYR1c.7836-47_7836-46insGGGCAGGGGGAGGAG (n.7836-47_7836-46insGGGCAGGGGGAGGAG)
c.7833-47_7833-46insGGGCAGGGGGAGGAG (n.7833-47_7833-46insGGGCAGGGGGAGGAG)
c.1288-47_1288-46insGGGCAGGGGGAGGAG
n.7919-47_7919-46insGGGCAGGGGGAGGAG
gnomAD v4
19g.38502833_38502834insGGGCAGGGGCAGGGGGAGGAGCA2584901102RYR1c.7836-47_7836-46insGGGCAGGGGCAGGGGGAGGAG (n.7836-47_7836-46insGGGCAGGGGCAGGGGGAGGAG)
c.7833-47_7833-46insGGGCAGGGGCAGGGGGAGGAG (n.7833-47_7833-46insGGGCAGGGGCAGGGGGAGGAG)
c.1288-47_1288-46insGGGCAGGGGCAGGGGGAGGAG
n.7919-47_7919-46insGGGCAGGGGCAGGGGGAGGAG
gnomAD v4
19g.38502833_38502834insGGGCAGGGGCAGGGGCAGGGGGAGGAGCA2584901101RYR1c.7836-47_7836-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG (n.7836-47_7836-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG)
c.7833-47_7833-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG (n.7833-47_7833-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG)
c.1288-47_1288-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG
n.7919-47_7919-46insGGGCAGGGGCAGGGGCAGGGGGAGGAG
gnomAD v4
19g.38502832_38502834delCA995718932RYR1c.7836-48_7836-46del (n.7836-48_7836-46del)
c.7833-48_7833-46del (n.7833-48_7833-46del)
c.1288-48_1288-46del
n.7919-48_7919-46del
dbSNP gnomAD v3 gnomAD v4
19g.38502833G>ACA2335054739RYR1c.7836-47G>A (n.7836-47G>A)
c.7833-47G>A (n.7833-47G>A)
c.1288-47G>A
n.7919-47G>A
dbSNP gnomAD v4
19g.38502833G>CCA2584901104RYR1c.7836-47G>C (n.7836-47G>C)
c.7833-47G>C (n.7833-47G>C)
c.1288-47G>C
n.7919-47G>C
gnomAD v4
19g.38502833G=CA2335054741RYR1c.7836-47G= (n.7836-47G=)
c.7833-47G= (n.7833-47G=)
c.1288-47G=
n.7919-47G=
19g.38502833G>TCA070709RYR1c.7836-47G>T (n.7836-47G>T)
c.7833-47G>T (n.7833-47G>T)
c.1288-47G>T
n.7919-47G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502833_38502834insGGGCA995718936RYR1c.7836-47_7836-46insGGG (n.7836-47_7836-46insGGG)
c.7833-47_7833-46insGGG (n.7833-47_7833-46insGGG)
c.1288-47_1288-46insGGG
n.7919-47_7919-46insGGG
gnomAD v3 gnomAD v4
19g.38502833_38502834insGGGGCA995718938RYR1c.7836-47_7836-46insGGGG (n.7836-47_7836-46insGGGG)
c.7833-47_7833-46insGGGG (n.7833-47_7833-46insGGGG)
c.1288-47_1288-46insGGGG
n.7919-47_7919-46insGGGG
gnomAD v3 gnomAD v4
19g.38502833_38502834insGGGGAGGCA995718941RYR1c.7836-47_7836-46insGGGGAGG (n.7836-47_7836-46insGGGGAGG)
c.7833-47_7833-46insGGGGAGG (n.7833-47_7833-46insGGGGAGG)
c.1288-47_1288-46insGGGGAGG
n.7919-47_7919-46insGGGGAGG
gnomAD v3 gnomAD v4
19g.38502833_38502834insGGGGAGGGGGCA2584901105RYR1c.7836-47_7836-46insGGGGAGGGGG (n.7836-47_7836-46insGGGGAGGGGG)
c.7833-47_7833-46insGGGGAGGGGG (n.7833-47_7833-46insGGGGAGGGGG)
c.1288-47_1288-46insGGGGAGGGGG
n.7919-47_7919-46insGGGGAGGGGG
gnomAD v4
19g.38502833dupCA2584901106RYR1c.7836-47dup (n.7836-47dup)
c.7833-47dup (n.7833-47dup)
c.1288-47dup
n.7919-47dup
gnomAD v4
19g.38502833_38502836delinsGAGCCA2335054740RYR1c.7836-47_7836-44delinsGAGC (n.7836-47_7836-44delinsGAGC)
c.7833-47_7833-44delinsGAGC (n.7833-47_7833-44delinsGAGC)
c.1288-47_1288-44delinsGAGC
n.7919-47_7919-44delinsGAGC
19g.38502833_38502834insGGGCCA633066351RYR1c.7836-47_7836-46insGGGC (n.7836-47_7836-46insGGGC)
c.7833-47_7833-46insGGGC (n.7833-47_7833-46insGGGC)
c.1288-47_1288-46insGGGC
n.7919-47_7919-46insGGGC
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502834A=CA2335054742RYR1c.7836-46A= (n.7836-46A=)
c.7833-46A= (n.7833-46A=)
c.1288-46A=
n.7919-46A=
19g.38502834A>CCA995718950RYR1c.7836-46A>C (n.7836-46A>C)
c.7833-46A>C (n.7833-46A>C)
c.1288-46A>C
n.7919-46A>C
gnomAD v3 gnomAD v4
19g.38502834A>GCA633066353RYR1c.7836-46A>G (n.7836-46A>G)
c.7833-46A>G (n.7833-46A>G)
c.1288-46A>G
n.7919-46A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502834_38502836delCA633066352RYR1c.7836-46_7836-44del (n.7836-46_7836-44del)
c.7833-46_7833-44del (n.7833-46_7833-44del)
c.1288-46_1288-44del
n.7919-46_7919-44del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502835G>ACA070702RYR1c.7836-45G>A (n.7836-45G>A)
c.7833-45G>A (n.7833-45G>A)
c.1288-45G>A
n.7919-45G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502835G=CA2335054743RYR1c.7836-45G= (n.7836-45G=)
c.7833-45G= (n.7833-45G=)
c.1288-45G=
n.7919-45G=
19g.38502835G>TCA070705RYR1c.7836-45G>T (n.7836-45G>T)
c.7833-45G>T (n.7833-45G>T)
c.1288-45G>T
n.7919-45G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502836_38502837delCA2584901107RYR1c.7836-44_7836-43del (n.7836-44_7836-43del)
c.7833-44_7833-43del (n.7833-44_7833-43del)
c.1288-44_1288-43del
n.7919-44_7919-43del
gnomAD v4
19g.38502836_38502847delCA2584901108RYR1c.7836-44_7836-33del (n.7836-44_7836-33del)
c.7833-44_7833-33del (n.7833-44_7833-33del)
c.1288-44_1288-33del
n.7919-44_7919-33del
gnomAD v4
19g.38502836delCA633066354RYR1c.7836-44del (n.7836-44del)
c.7833-44del (n.7833-44del)
c.1288-44del
n.7919-44del
gnomAD v2 gnomAD v3 gnomAD v4
19g.38502836C>ACA2582145396RYR1c.7836-44C>A (n.7836-44C>A)
c.7833-44C>A (n.7833-44C>A)
c.1288-44C>A
n.7919-44C>A
gnomAD v3 gnomAD v4
19g.38502836C=CA2335054744RYR1c.7836-44C= (n.7836-44C=)
c.7833-44C= (n.7833-44C=)
c.1288-44C=
n.7919-44C=
19g.38502836C>GCA308113116RYR1c.7836-44C>G (n.7836-44C>G)
c.7833-44C>G (n.7833-44C>G)
c.1288-44C>G
n.7919-44C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502836C>TCA082837RYR1c.7836-44C>T (n.7836-44C>T)
c.7833-44C>T (n.7833-44C>T)
c.1288-44C>T
n.7919-44C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502836_38502837insAGCA995718965RYR1c.7836-44_7836-43insAG (n.7836-44_7836-43insAG)
c.7833-44_7833-43insAG (n.7833-44_7833-43insAG)
c.1288-44_1288-43insAG
n.7919-44_7919-43insAG
gnomAD v3 gnomAD v4
19g.38502837G>ACA070696RYR1c.7836-43G>A (n.7836-43G>A)
c.7833-43G>A (n.7833-43G>A)
c.1288-43G>A
n.7919-43G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502837G>CCA882054357RYR1c.7836-43G>C (n.7836-43G>C)
c.7833-43G>C (n.7833-43G>C)
c.1288-43G>C
n.7919-43G>C
dbSNP gnomAD v3 gnomAD v4
19g.38502837G=CA2335054745RYR1c.7836-43G= (n.7836-43G=)
c.7833-43G= (n.7833-43G=)
c.1288-43G=
n.7919-43G=
19g.38502837G>TCA2584901109RYR1c.7836-43G>T (n.7836-43G>T)
c.7833-43G>T (n.7833-43G>T)
c.1288-43G>T
n.7919-43G>T
gnomAD v4
19g.38502838G>ACA070691RYR1c.7836-42G>A (n.7836-42G>A)
c.7833-42G>A (n.7833-42G>A)
c.1288-42G>A
n.7919-42G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502838G=CA2335054746RYR1c.7836-42G= (n.7836-42G=)
c.7833-42G= (n.7833-42G=)
c.1288-42G=
n.7919-42G=
19g.38502838G>TCA082835RYR1c.7836-42G>T (n.7836-42G>T)
c.7833-42G>T (n.7833-42G>T)
c.1288-42G>T
n.7919-42G>T
gnomAD v4
19g.38502839G>ACA070685RYR1c.7836-41G>A (n.7836-41G>A)
c.7833-41G>A (n.7833-41G>A)
c.1288-41G>A
n.7919-41G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502839G=CA2335054747RYR1c.7836-41G= (n.7836-41G=)
c.7833-41G= (n.7833-41G=)
c.1288-41G=
n.7919-41G=
19g.38502839G>TCA995718980RYR1c.7836-41G>T (n.7836-41G>T)
c.7833-41G>T (n.7833-41G>T)
c.1288-41G>T
n.7919-41G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502840_38502843delCA2584901110RYR1c.7836-40_7836-37del (n.7836-40_7836-37del)
c.7833-40_7833-37del (n.7833-40_7833-37del)
c.1288-40_1288-37del
n.7919-40_7919-37del
gnomAD v4
19g.38502840C>ACA2584901111RYR1c.7836-40C>A (n.7836-40C>A)
c.7833-40C>A (n.7833-40C>A)
c.1288-40C>A
n.7919-40C>A
gnomAD v4
19g.38502840C=CA2335054748RYR1c.7836-40C= (n.7836-40C=)
c.7833-40C= (n.7833-40C=)
c.1288-40C=
n.7919-40C=
19g.38502840C>GCA070679RYR1c.7836-40C>G (n.7836-40C>G)
c.7833-40C>G (n.7833-40C>G)
c.1288-40C>G
n.7919-40C>G
dbSNP ExAC gnomAD v4
19g.38502840C>TCA070682RYR1c.7836-40C>T (n.7836-40C>T)
c.7833-40C>T (n.7833-40C>T)
c.1288-40C>T
n.7919-40C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502840_38502842delCA2582145397RYR1c.7836-40_7836-38del (n.7836-40_7836-38del)
c.7833-40_7833-38del (n.7833-40_7833-38del)
c.1288-40_1288-38del
n.7919-40_7919-38del
gnomAD v3 gnomAD v4
19g.38502841C>ACA633066355RYR1c.7836-39C>A (n.7836-39C>A)
c.7833-39C>A (n.7833-39C>A)
c.1288-39C>A
n.7919-39C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502841C=CA2335054749RYR1c.7836-39C= (n.7836-39C=)
c.7833-39C= (n.7833-39C=)
c.1288-39C=
n.7919-39C=
19g.38502841C>GCA070670RYR1c.7836-39C>G (n.7836-39C>G)
c.7833-39C>G (n.7833-39C>G)
c.1288-39C>G
n.7919-39C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502841C>TCA070675RYR1c.7836-39C>T (n.7836-39C>T)
c.7833-39C>T (n.7833-39C>T)
c.1288-39C>T
n.7919-39C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502841_38502844delCA995718993RYR1c.7836-39_7836-36del (n.7836-39_7836-36del)
c.7833-39_7833-36del (n.7833-39_7833-36del)
c.1288-39_1288-36del
n.7919-39_7919-36del
gnomAD v3 gnomAD v4
19g.38502842T>ACA2584901112RYR1c.7836-38T>A (n.7836-38T>A)
c.7833-38T>A (n.7833-38T>A)
c.1288-38T>A
n.7919-38T>A
gnomAD v4
19g.38502842T>CCA9415895RYR1c.7836-38T>C (n.7836-38T>C)
c.7833-38T>C (n.7833-38T>C)
c.1288-38T>C
n.7919-38T>C
dbSNP ExAC gnomAD v4
19g.38502842T>GCA633066356RYR1c.7836-38T>G (n.7836-38T>G)
c.7833-38T>G (n.7833-38T>G)
c.1288-38T>G
n.7919-38T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502842T=CA2335054751RYR1c.7836-38T= (n.7836-38T=)
c.7833-38T= (n.7833-38T=)
c.1288-38T=
n.7919-38T=
19g.38502842_38502843delinsTGCA2335054750RYR1c.7836-38_7836-37delinsTG (n.7836-38_7836-37delinsTG)
c.7833-38_7833-37delinsTG (n.7833-38_7833-37delinsTG)
c.1288-38_1288-37delinsTG
n.7919-38_7919-37delinsTG
19g.38502843G>ACA070650RYR1c.7836-37G>A (n.7836-37G>A)
c.7833-37G>A (n.7833-37G>A)
c.1288-37G>A
n.7919-37G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502843G>CCA070656RYR1c.7836-37G>C (n.7836-37G>C)
c.7833-37G>C (n.7833-37G>C)
c.1288-37G>C
n.7919-37G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502843G=CA2335054752RYR1c.7836-37G= (n.7836-37G=)
c.7833-37G= (n.7833-37G=)
c.1288-37G=
n.7919-37G=
19g.38502843G>TCA2584901113RYR1c.7836-37G>T (n.7836-37G>T)
c.7833-37G>T (n.7833-37G>T)
c.1288-37G>T
n.7919-37G>T
gnomAD v4
19g.38502844delCA9415894RYR1c.7836-36del (n.7836-36del)
c.7833-36del (n.7833-36del)
c.1288-36del
n.7919-36del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502844G>ACA633066357RYR1c.7836-36G>A (n.7836-36G>A)
c.7833-36G>A (n.7833-36G>A)
c.1288-36G>A
n.7919-36G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502844G=CA2335054753RYR1c.7836-36G= (n.7836-36G=)
c.7833-36G= (n.7833-36G=)
c.1288-36G=
n.7919-36G=
19g.38502844G>TCA082820RYR1c.7836-36G>T (n.7836-36G>T)
c.7833-36G>T (n.7833-36G>T)
c.1288-36G>T
n.7919-36G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502845A=CA2335054754RYR1c.7836-35A= (n.7836-35A=)
c.7833-35A= (n.7833-35A=)
c.1288-35A=
n.7919-35A=
19g.38502845A>CCA2335054755RYR1c.7836-35A>C (n.7836-35A>C)
c.7833-35A>C (n.7833-35A>C)
c.1288-35A>C
n.7919-35A>C
dbSNP
19g.38502845A>GCA633066358RYR1c.7836-35A>G (n.7836-35A>G)
c.7833-35A>G (n.7833-35A>G)
c.1288-35A>G
n.7919-35A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502845_38502846delinsCGCA082814RYR1c.7836-35_7836-34delinsCG (n.7836-35_7836-34delinsCG)
c.7833-35_7833-34delinsCG (n.7833-35_7833-34delinsCG)
c.1288-35_1288-34delinsCG
n.7919-35_7919-34delinsCG
19g.38502846delCA995719010RYR1c.7836-34del (n.7836-34del)
c.7833-34del (n.7833-34del)
c.1288-34del
n.7919-34del
gnomAD v3 gnomAD v4
19g.38502846C>ACA2584901114RYR1c.7836-34C>A (n.7836-34C>A)
c.7833-34C>A (n.7833-34C>A)
c.1288-34C>A
n.7919-34C>A
gnomAD v4
19g.38502846C=CA2335054756RYR1c.7836-34C= (n.7836-34C=)
c.7833-34C= (n.7833-34C=)
c.1288-34C=
n.7919-34C=
19g.38502846C>GCA070641RYR1c.7836-34C>G (n.7836-34C>G)
c.7833-34C>G (n.7833-34C>G)
c.1288-34C>G
n.7919-34C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502846C>TCA070642RYR1c.7836-34C>T (n.7836-34C>T)
c.7833-34C>T (n.7833-34C>T)
c.1288-34C>T
n.7919-34C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502846_38502847delinsCGCA2335054757RYR1c.7836-34_7836-33delinsCG (n.7836-34_7836-33delinsCG)
c.7833-34_7833-33delinsCG (n.7833-34_7833-33delinsCG)
c.1288-34_1288-33delinsCG
n.7919-34_7919-33delinsCG
19g.38502847G>ACA633066359RYR1c.7836-33G>A (n.7836-33G>A)
c.7833-33G>A (n.7833-33G>A)
c.1288-33G>A
n.7919-33G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502847G>CCA633066360RYR1c.7836-33G>C (n.7836-33G>C)
c.7833-33G>C (n.7833-33G>C)
c.1288-33G>C
n.7919-33G>C
dbSNP gnomAD v2 gnomAD v4
19g.38502847G=CA2335054758RYR1c.7836-33G= (n.7836-33G=)
c.7833-33G= (n.7833-33G=)
c.1288-33G=
n.7919-33G=
19g.38502847G>TCA082810RYR1c.7836-33G>T (n.7836-33G>T)
c.7833-33G>T (n.7833-33G>T)
c.1288-33G>T
n.7919-33G>T
gnomAD v3 gnomAD v4
19g.38502851delCA2335054759RYR1c.7836-29del (n.7836-29del)
c.7833-29del (n.7833-29del)
c.1288-29del
n.7919-29del
dbSNP
19g.38502848G>ACA2584901115RYR1c.7836-32G>A (n.7836-32G>A)
c.7833-32G>A (n.7833-32G>A)
c.1288-32G>A
n.7919-32G>A
gnomAD v4
19g.38502848G>TCA2584901116RYR1c.7836-32G>T (n.7836-32G>T)
c.7833-32G>T (n.7833-32G>T)
c.1288-32G>T
n.7919-32G>T
gnomAD v4
19g.38502849G>ACA070640RYR1c.7836-31G>A (n.7836-31G>A)
c.7833-31G>A (n.7833-31G>A)
c.1288-31G>A
n.7919-31G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502849G>CCA308113188RYR1c.7836-31G>C (n.7836-31G>C)
c.7833-31G>C (n.7833-31G>C)
c.1288-31G>C
n.7919-31G>C
dbSNP gnomAD v3 gnomAD v4
19g.38502849G=CA2335054760RYR1c.7836-31G= (n.7836-31G=)
c.7833-31G= (n.7833-31G=)
c.1288-31G=
n.7919-31G=
19g.38502849G>TCA2584901117RYR1c.7836-31G>T (n.7836-31G>T)
c.7833-31G>T (n.7833-31G>T)
c.1288-31G>T
n.7919-31G>T
gnomAD v4
19g.38502850G>ACA070634RYR1c.7836-30G>A (n.7836-30G>A)
c.7833-30G>A (n.7833-30G>A)
c.1288-30G>A
n.7919-30G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502850G>CCA2584901118RYR1c.7836-30G>C (n.7836-30G>C)
c.7833-30G>C (n.7833-30G>C)
c.1288-30G>C
n.7919-30G>C
gnomAD v4
19g.38502850G=CA2335054761RYR1c.7836-30G= (n.7836-30G=)
c.7833-30G= (n.7833-30G=)
c.1288-30G=
n.7919-30G=
19g.38502850G>TCA633066361RYR1c.7836-30G>T (n.7836-30G>T)
c.7833-30G>T (n.7833-30G>T)
c.1288-30G>T
n.7919-30G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502851G>ACA9415899RYR1c.7836-29G>A (n.7836-29G>A)
c.7833-29G>A (n.7833-29G>A)
c.1288-29G>A
n.7919-29G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502851G>CCA9415898RYR1c.7836-29G>C (n.7836-29G>C)
c.7833-29G>C (n.7833-29G>C)
c.1288-29G>C
n.7919-29G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502851G=CA2335054762RYR1c.7836-29G= (n.7836-29G=)
c.7833-29G= (n.7833-29G=)
c.1288-29G=
n.7919-29G=
19g.38502851G>TCA9415900RYR1c.7836-29G>T (n.7836-29G>T)
c.7833-29G>T (n.7833-29G>T)
c.1288-29G>T
n.7919-29G>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502851_38502852delinsGACA2335054763RYR1c.7836-29_7836-28delinsGA (n.7836-29_7836-28delinsGA)
c.7833-29_7833-28delinsGA (n.7833-29_7833-28delinsGA)
c.1288-29_1288-28delinsGA
n.7919-29_7919-28delinsGA
19g.38502852delCA9415897RYR1c.7836-28del (n.7836-28del)
c.7833-28del (n.7833-28del)
c.1288-28del
n.7919-28del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502852A=CA2335054764RYR1c.7836-28A= (n.7836-28A=)
c.7833-28A= (n.7833-28A=)
c.1288-28A=
n.7919-28A=
19g.38502852A>CCA882054398RYR1c.7836-28A>C (n.7836-28A>C)
c.7833-28A>C (n.7833-28A>C)
c.1288-28A>C
n.7919-28A>C
dbSNP gnomAD v3 gnomAD v4
19g.38502852A>GCA995719078RYR1c.7836-28A>G (n.7836-28A>G)
c.7833-28A>G (n.7833-28A>G)
c.1288-28A>G
n.7919-28A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502852A>TCA070614RYR1c.7836-28A>T (n.7836-28A>T)
c.7833-28A>T (n.7833-28A>T)
c.1288-28A>T
n.7919-28A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502852dupCA9415896RYR1c.7836-28dup (n.7836-28dup)
c.7833-28dup (n.7833-28dup)
c.1288-28dup
n.7919-28dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502853T>CCA995719088RYR1c.7836-27T>C (n.7836-27T>C)
c.7833-27T>C (n.7833-27T>C)
c.1288-27T>C
n.7919-27T>C
dbSNP gnomAD v3 gnomAD v4
19g.38502853T>GCA633066362RYR1c.7836-27T>G (n.7836-27T>G)
c.7833-27T>G (n.7833-27T>G)
c.1288-27T>G
n.7919-27T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502853T=CA2335054765RYR1c.7836-27T= (n.7836-27T=)
c.7833-27T= (n.7833-27T=)
c.1288-27T=
n.7919-27T=
19g.38502854T>ACA070607RYR1c.7836-26T>A (n.7836-26T>A)
c.7833-26T>A (n.7833-26T>A)
c.1288-26T>A
n.7919-26T>A
dbSNP ExAC gnomAD v4
19g.38502854T>CCA070610RYR1c.7836-26T>C (n.7836-26T>C)
c.7833-26T>C (n.7833-26T>C)
c.1288-26T>C
n.7919-26T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502854T>GCA995719093RYR1c.7836-26T>G (n.7836-26T>G)
c.7833-26T>G (n.7833-26T>G)
c.1288-26T>G
n.7919-26T>G
gnomAD v3 gnomAD v4
19g.38502854T=CA2335054766RYR1c.7836-26T= (n.7836-26T=)
c.7833-26T= (n.7833-26T=)
c.1288-26T=
n.7919-26T=
19g.38502854_38502855delinsAACA082795RYR1c.7836-26_7836-25delinsAA (n.7836-26_7836-25delinsAA)
c.7833-26_7833-25delinsAA (n.7833-26_7833-25delinsAA)
c.1288-26_1288-25delinsAA
n.7919-26_7919-25delinsAA
19g.38502854_38502855insGCA2335054767RYR1c.7836-26_7836-25insG (n.7836-26_7836-25insG)
c.7833-26_7833-25insG (n.7833-26_7833-25insG)
c.1288-26_1288-25insG
n.7919-26_7919-25insG
dbSNP
19g.38502855C=CA2335054768RYR1c.7836-25C= (n.7836-25C=)
c.7833-25C= (n.7833-25C=)
c.1288-25C=
n.7919-25C=
19g.38502855C>GCA070598RYR1c.7836-25C>G (n.7836-25C>G)
c.7833-25C>G (n.7833-25C>G)
c.1288-25C>G
n.7919-25C>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502855C>TCA082793RYR1c.7836-25C>T (n.7836-25C>T)
c.7833-25C>T (n.7833-25C>T)
c.1288-25C>T
n.7919-25C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502856T>ACA2584901119RYR1c.7836-24T>A (n.7836-24T>A)
c.7833-24T>A (n.7833-24T>A)
c.1288-24T>A
n.7919-24T>A
gnomAD v4
19g.38502856T>CCA633066363RYR1c.7836-24T>C (n.7836-24T>C)
c.7833-24T>C (n.7833-24T>C)
c.1288-24T>C
n.7919-24T>C
dbSNP gnomAD v2 gnomAD v4
19g.38502856T=CA2335054769RYR1c.7836-24T= (n.7836-24T=)
c.7833-24T= (n.7833-24T=)
c.1288-24T=
n.7919-24T=
19g.38502857A=CA2335054770RYR1c.7836-23A= (n.7836-23A=)
c.7833-23A= (n.7833-23A=)
c.1288-23A=
n.7919-23A=
19g.38502857A>CCA995719104RYR1c.7836-23A>C (n.7836-23A>C)
c.7833-23A>C (n.7833-23A>C)
c.1288-23A>C
n.7919-23A>C
gnomAD v3 gnomAD v4
19g.38502857A>GCA070597RYR1c.7836-23A>G (n.7836-23A>G)
c.7833-23A>G (n.7833-23A>G)
c.1288-23A>G
n.7919-23A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502857A>TCA2518344338RYR1c.7836-23A>T (n.7836-23A>T)
c.7833-23A>T (n.7833-23A>T)
c.1288-23A>T
n.7919-23A>T
19g.38502858C>ACA633066364RYR1c.7836-22C>A (n.7836-22C>A)
c.7833-22C>A (n.7833-22C>A)
c.1288-22C>A
n.7919-22C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502858C=CA2335054771RYR1c.7836-22C= (n.7836-22C=)
c.7833-22C= (n.7833-22C=)
c.1288-22C=
n.7919-22C=
19g.38502858C>GCA082788RYR1c.7836-22C>G (n.7836-22C>G)
c.7833-22C>G (n.7833-22C>G)
c.1288-22C>G
n.7919-22C>G
19g.38502858C>TCA070591RYR1c.7836-22C>T (n.7836-22C>T)
c.7833-22C>T (n.7833-22C>T)
c.1288-22C>T
n.7919-22C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502859A=CA2335054772RYR1c.7836-21A= (n.7836-21A=)
c.7833-21A= (n.7833-21A=)
c.1288-21A=
n.7919-21A=
19g.38502859A>CCA070586RYR1c.7836-21A>C (n.7836-21A>C)
c.7833-21A>C (n.7833-21A>C)
c.1288-21A>C
n.7919-21A>C
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502859A>GCA2335054773RYR1c.7836-21A>G (n.7836-21A>G)
c.7833-21A>G (n.7833-21A>G)
c.1288-21A>G
n.7919-21A>G
dbSNP gnomAD v4
19g.38502859dupCA9415901RYR1c.7836-21dup (n.7836-21dup)
c.7833-21dup (n.7833-21dup)
c.1288-21dup
n.7919-21dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502860T>ACA633066365RYR1c.7836-20T>A (n.7836-20T>A)
c.7833-20T>A (n.7833-20T>A)
c.1288-20T>A
n.7919-20T>A
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502860T>GCA995719110RYR1c.7836-20T>G (n.7836-20T>G)
c.7833-20T>G (n.7833-20T>G)
c.1288-20T>G
n.7919-20T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502860T=CA2335054774RYR1c.7836-20T= (n.7836-20T=)
c.7833-20T= (n.7833-20T=)
c.1288-20T=
n.7919-20T=
19g.38502861C>ACA633066366RYR1c.7836-19C>A (n.7836-19C>A)
c.7833-19C>A (n.7833-19C>A)
c.1288-19C>A
n.7919-19C>A
ClinVar dbSNP gnomAD v2
19g.38502861C=CA2335054775RYR1c.7836-19C= (n.7836-19C=)
c.7833-19C= (n.7833-19C=)
c.1288-19C=
n.7919-19C=
19g.38502861C>GCA658799200RYR1c.7836-19C>G (n.7836-19C>G)
c.7833-19C>G (n.7833-19C>G)
c.1288-19C>G
n.7919-19C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502861C>TCA070582RYR1c.7836-19C>T (n.7836-19C>T)
c.7833-19C>T (n.7833-19C>T)
c.1288-19C>T
n.7919-19C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502862T>GCA070579RYR1c.7836-18T>G (n.7836-18T>G)
c.7833-18T>G (n.7833-18T>G)
c.1288-18T>G
n.7919-18T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502862T=CA2335054776RYR1c.7836-18T= (n.7836-18T=)
c.7833-18T= (n.7833-18T=)
c.1288-18T=
n.7919-18T=
19g.38502863T>ACA633066367RYR1c.7836-17T>A (n.7836-17T>A)
c.7833-17T>A (n.7833-17T>A)
c.1288-17T>A
n.7919-17T>A
dbSNP gnomAD v2
19g.38502863T>CCA070575RYR1c.7836-17T>C (n.7836-17T>C)
c.7833-17T>C (n.7833-17T>C)
c.1288-17T>C
n.7919-17T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502863T>GCA633066368RYR1c.7836-17T>G (n.7836-17T>G)
c.7833-17T>G (n.7833-17T>G)
c.1288-17T>G
n.7919-17T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502863T=CA2335054777RYR1c.7836-17T= (n.7836-17T=)
c.7833-17T= (n.7833-17T=)
c.1288-17T=
n.7919-17T=
19g.38502864G>ACA070572RYR1c.7836-16G>A (n.7836-16G>A)
c.7833-16G>A (n.7833-16G>A)
c.1288-16G>A
n.7919-16G>A
dbSNP ExAC gnomAD v2
19g.38502864G>CCA2584901120RYR1c.7836-16G>C (n.7836-16G>C)
c.7833-16G>C (n.7833-16G>C)
c.1288-16G>C
n.7919-16G>C
gnomAD v4
19g.38502864G=CA2335054778RYR1c.7836-16G= (n.7836-16G=)
c.7833-16G= (n.7833-16G=)
c.1288-16G=
n.7919-16G=
19g.38502864G>TCA2576771137RYR1c.7836-16G>T (n.7836-16G>T)
c.7833-16G>T (n.7833-16G>T)
c.1288-16G>T
n.7919-16G>T
19g.38502865T>ACA2584901121RYR1c.7836-15T>A (n.7836-15T>A)
c.7833-15T>A (n.7833-15T>A)
c.1288-15T>A
n.7919-15T>A
gnomAD v4
19g.38502865T>CCA2576771138RYR1c.7836-15T>C (n.7836-15T>C)
c.7833-15T>C (n.7833-15T>C)
c.1288-15T>C
n.7919-15T>C
ClinVar gnomAD v4
19g.38502865T>GCA082780RYR1c.7836-15T>G (n.7836-15T>G)
c.7833-15T>G (n.7833-15T>G)
c.1288-15T>G
n.7919-15T>G
dbSNP gnomAD v4
19g.38502865T=CA2335054779RYR1c.7836-15T= (n.7836-15T=)
c.7833-15T= (n.7833-15T=)
c.1288-15T=
n.7919-15T=
19g.38502866G>ACA882054462RYR1c.7836-14G>A (n.7836-14G>A)
c.7833-14G>A (n.7833-14G>A)
c.1288-14G>A
n.7919-14G>A
ClinVar dbSNP gnomAD v4
19g.38502866G=CA2335054780RYR1c.7836-14G= (n.7836-14G=)
c.7833-14G= (n.7833-14G=)
c.1288-14G=
n.7919-14G=
19g.38502866G>TCA308113278RYR1c.7836-14G>T (n.7836-14G>T)
c.7833-14G>T (n.7833-14G>T)
c.1288-14G>T
n.7919-14G>T
dbSNP gnomAD v3 gnomAD v4
19g.38502867C>ACA308113279RYR1c.7836-13C>A (n.7836-13C>A)
c.7833-13C>A (n.7833-13C>A)
c.1288-13C>A
n.7919-13C>A
ClinVar dbSNP
19g.38502867C=CA2335054781RYR1c.7836-13C= (n.7836-13C=)
c.7833-13C= (n.7833-13C=)
c.1288-13C=
n.7919-13C=
19g.38502867C>GCA10587320RYR1c.7836-13C>G (n.7836-13C>G)
c.7833-13C>G (n.7833-13C>G)
c.1288-13C>G
n.7919-13C>G
ClinVar dbSNP gnomAD v4
19g.38502867C>TCA070567RYR1c.7836-13C>T (n.7836-13C>T)
c.7833-13C>T (n.7833-13C>T)
c.1288-13C>T
n.7919-13C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502868A=CA2335054782RYR1c.7836-12A= (n.7836-12A=)
c.7833-12A= (n.7833-12A=)
c.1288-12A=
n.7919-12A=
19g.38502868A>CCA2584901122RYR1c.7836-12A>C (n.7836-12A>C)
c.7833-12A>C (n.7833-12A>C)
c.1288-12A>C
n.7919-12A>C
gnomAD v4
19g.38502868A>GCA308113289RYR1c.7836-12A>G (n.7836-12A>G)
c.7833-12A>G (n.7833-12A>G)
c.1288-12A>G
n.7919-12A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502869T>CCA070563RYR1c.7836-11T>C (n.7836-11T>C)
c.7833-11T>C (n.7833-11T>C)
c.1288-11T>C
n.7919-11T>C
dbSNP ExAC gnomAD v4
19g.38502869T>GCA2580097217RYR1c.7836-11T>G (n.7836-11T>G)
c.7833-11T>G (n.7833-11T>G)
c.1288-11T>G
n.7919-11T>G
ClinVar
19g.38502869T=CA2335054783RYR1c.7836-11T= (n.7836-11T=)
c.7833-11T= (n.7833-11T=)
c.1288-11T=
n.7919-11T=
19g.38502870T>CCA2584901123RYR1c.7836-10T>C (n.7836-10T>C)
c.7833-10T>C (n.7833-10T>C)
c.1288-10T>C
n.7919-10T>C
ClinVar gnomAD v4
19g.38502870T>GCA633066369RYR1c.7836-10T>G (n.7836-10T>G)
c.7833-10T>G (n.7833-10T>G)
c.1288-10T>G
n.7919-10T>G
dbSNP gnomAD v2 gnomAD v4
19g.38502870T=CA2335054784RYR1c.7836-10T= (n.7836-10T=)
c.7833-10T= (n.7833-10T=)
c.1288-10T=
n.7919-10T=
19g.38502871G>ACA633066370RYR1c.7836-9G>A (n.7836-9G>A)
c.7833-9G>A (n.7833-9G>A)
c.1288-9G>A
n.7919-9G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502871G=CA2335054785RYR1c.7836-9G= (n.7836-9G=)
c.7833-9G= (n.7833-9G=)
c.1288-9G=
n.7919-9G=
19g.38502871G>TCA2335054786RYR1c.7836-9G>T (n.7836-9G>T)
c.7833-9G>T (n.7833-9G>T)
c.1288-9G>T
n.7919-9G>T
dbSNP gnomAD v4
19g.38502872T>ACA2584901124RYR1c.7836-8T>A (n.7836-8T>A)
c.7833-8T>A (n.7833-8T>A)
c.1288-8T>A
n.7919-8T>A
gnomAD v4
19g.38502872T>CCA070784RYR1c.7836-8T>C (n.7836-8T>C)
c.7833-8T>C (n.7833-8T>C)
c.1288-8T>C
n.7919-8T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502872T=CA2335054787RYR1c.7836-8T= (n.7836-8T=)
c.7833-8T= (n.7833-8T=)
c.1288-8T=
n.7919-8T=
19g.38502873C=CA2335054788RYR1c.7836-7C= (n.7836-7C=)
c.7833-7C= (n.7833-7C=)
c.1288-7C=
n.7919-7C=
19g.38502873C>GCA2814347365RYR1c.7836-7C>G (n.7836-7C>G)
c.7833-7C>G (n.7833-7C>G)
c.1288-7C>G
n.7919-7C>G
19g.38502873C>TCA070780RYR1c.7836-7C>T (n.7836-7C>T)
c.7833-7C>T (n.7833-7C>T)
c.1288-7C>T
n.7919-7C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502874C=CA2335054789RYR1c.7836-6C= (n.7836-6C=)
c.7833-6C= (n.7833-6C=)
c.1288-6C=
n.7919-6C=
19g.38502874C>GCA308113304RYR1c.7836-6C>G (n.7836-6C>G)
c.7833-6C>G (n.7833-6C>G)
c.1288-6C>G
n.7919-6C>G
dbSNP gnomAD v4
19g.38502874C>TCA070758RYR1c.7836-6C>T (n.7836-6C>T)
c.7833-6C>T (n.7833-6C>T)
c.1288-6C>T
n.7919-6C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502875C>ACA2499225471RYR1c.7836-5C>A (n.7836-5C>A)
c.7833-5C>A (n.7833-5C>A)
c.1288-5C>A
n.7919-5C>A
ClinVar dbSNP gnomAD v4
19g.38502875C=CA2335054790RYR1c.7836-5C= (n.7836-5C=)
c.7833-5C= (n.7833-5C=)
c.1288-5C=
n.7919-5C=
19g.38502875C>GCA633066371RYR1c.7836-5C>G (n.7836-5C>G)
c.7833-5C>G (n.7833-5C>G)
c.1288-5C>G
n.7919-5C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502875C>TCA633066372RYR1c.7836-5C>T (n.7836-5C>T)
c.7833-5C>T (n.7833-5C>T)
c.1288-5C>T
n.7919-5C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502876G>ACA070721RYR1c.7836-4G>A (n.7836-4G>A)
c.7833-4G>A (n.7833-4G>A)
c.1288-4G>A
n.7919-4G>A
ClinVar dbSNP ExAC gnomAD v4
19g.38502876G>CCA2584901125RYR1c.7836-4G>C (n.7836-4G>C)
c.7833-4G>C (n.7833-4G>C)
c.1288-4G>C
n.7919-4G>C
gnomAD v4
19g.38502876G=CA2335054791RYR1c.7836-4G= (n.7836-4G=)
c.7833-4G= (n.7833-4G=)
c.1288-4G=
n.7919-4G=
19g.38502876G>TCA645612040RYR1c.7836-4G>T (n.7836-4G>T)
c.7833-4G>T (n.7833-4G>T)
c.1288-4G>T
n.7919-4G>T
gnomAD v4 COSMIC
19g.38502877C>ACA2576771139RYR1c.7836-3C>A (n.7836-3C>A)
c.7833-3C>A (n.7833-3C>A)
c.1288-3C>A
n.7919-3C>A
19g.38502877C=CA2335054792RYR1c.7836-3C= (n.7836-3C=)
c.7833-3C= (n.7833-3C=)
c.1288-3C=
n.7919-3C=
19g.38502877C>GCA2580097218RYR1c.7836-3C>G (n.7836-3C>G)
c.7833-3C>G (n.7833-3C>G)
c.1288-3C>G
n.7919-3C>G
ClinVar gnomAD v4
19g.38502877C>TCA082854RYR1c.7836-3C>T (n.7836-3C>T)
c.7833-3C>T (n.7833-3C>T)
c.1288-3C>T
n.7919-3C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502878A=CA2335054793RYR1c.7836-2A= (n.7836-2A=)
c.7833-2A= (n.7833-2A=)
c.1288-2A=
n.7919-2A=
19g.38502878A>CCA405673458RYR1c.7836-2A>C (n.7836-2A>C)
c.7833-2A>C (n.7833-2A>C)
c.1288-2A>C
n.7919-2A>C
gnomAD v4
19g.38502878A>GCA405673469RYR1c.7836-2A>G (n.7836-2A>G)
c.7833-2A>G (n.7833-2A>G)
c.1288-2A>G
n.7919-2A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502878A>TCA405673472RYR1c.7836-2A>T (n.7836-2A>T)
c.7833-2A>T (n.7833-2A>T)
c.1288-2A>T
n.7919-2A>T
19g.38502879G>ACA082842RYR1c.7836-1G>A (n.7836-1G>A)
c.7833-1G>A (n.7833-1G>A)
c.1288-1G>A
n.7919-1G>A
ClinVar dbSNP gnomAD v4
19g.38502879G>CCA405673477RYR1c.7836-1G>C (n.7836-1G>C)
c.7833-1G>C (n.7833-1G>C)
c.1288-1G>C
n.7919-1G>C
19g.38502879G=CA2335054794RYR1c.7836-1G= (n.7836-1G=)
c.7833-1G= (n.7833-1G=)
c.1288-1G=
n.7919-1G=
19g.38502879G>TCA405673480RYR1c.7836-1G>T (n.7836-1G>T)
c.7833-1G>T (n.7833-1G>T)
c.1288-1G>T
n.7919-1G>T
gnomAD v4 COSMIC
19g.38502880G>ACA024866RYR1c.7836G>A (p.Arg2612=)
c.7833G>A (p.Arg2611=)
c.1288G>A
n.7919G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502880G>CCA405673484RYR1c.7836G>C (p.Arg2612Ser)
c.7833G>C (p.Arg2611Ser)
c.1288G>C
n.7919G>C
19g.38502880G=CA2335054795RYR1c.7836G= (p.Arg2612=)
c.7833G= (p.Arg2611=)
c.1288G=
n.7919G=
19g.38502880G>TCA070796RYR1c.7836G>T (p.Arg2612Ser)
c.7833G>T (p.Arg2611Ser)
c.1288G>T
n.7919G>T
dbSNP ExAC gnomAD v3 gnomAD v4
19g.38502881T>ACA405673497RYR1c.7837T>A (p.Tyr2613Asn)
c.7834T>A (p.Tyr2612Asn)
c.1289T>A
n.7920T>A
gnomAD v4
19g.38502881T>CCA405673493RYR1c.7837T>C (p.Tyr2613His)
c.7834T>C (p.Tyr2612His)
c.1289T>C
n.7920T>C
gnomAD v4
19g.38502881T>GCA405673491RYR1c.7837T>G (p.Tyr2613Asp)
c.7834T>G (p.Tyr2612Asp)
c.1289T>G
n.7920T>G
dbSNP
19g.38502882A=CA2335054796RYR1c.7838A= (p.Tyr2613=)
c.7835A= (p.Tyr2612=)
c.1290A=
n.7921A=
19g.38502882A>CCA070800RYR1c.7838A>C (p.Tyr2613Ser)
c.7835A>C (p.Tyr2612Ser)
c.1290A>C
n.7921A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502882A>GCA405673509RYR1c.7838A>G (p.Tyr2613Cys)
c.7835A>G (p.Tyr2612Cys)
c.1290A>G
n.7921A>G
dbSNP COSMIC
19g.38502882A>TCA405673511RYR1c.7838A>T (p.Tyr2613Phe)
c.7835A>T (p.Tyr2612Phe)
c.1290A>T
n.7921A>T
19g.38502883C>ACA405673513RYR1c.7839C>A (p.Tyr2613Ter)
c.7836C>A (p.Tyr2612Ter)
c.1291C>A
n.7922C>A
dbSNP
19g.38502883C=CA2335054797RYR1c.7839C= (p.Tyr2613=)
c.7836C= (p.Tyr2612=)
c.1291C=
n.7922C=
19g.38502883C>GCA405673515RYR1c.7839C>G (p.Tyr2613Ter)
c.7836C>G (p.Tyr2612Ter)
c.1291C>G
n.7922C>G
19g.38502883C>TCA070806RYR1c.7839C>T (p.Tyr2613=)
c.7836C>T (p.Tyr2612=)
c.1291C>T
n.7922C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502884A=CA2335054798RYR1c.7840A= (p.Ile2614=)
c.7837A= (p.Ile2613=)
c.1292A=
n.7923A=
19g.38502884A>CCA405673518RYR1c.7840A>C (p.Ile2614Leu)
c.7837A>C (p.Ile2613Leu)
c.1292A>C
n.7923A>C
19g.38502884A>GCA405673521RYR1c.7840A>G (p.Ile2614Val)
c.7837A>G (p.Ile2613Val)
c.1292A>G
n.7923A>G
dbSNP
19g.38502884A>TCA405673523RYR1c.7840A>T (p.Ile2614Phe)
c.7837A>T (p.Ile2613Phe)
c.1292A>T
n.7923A>T
19g.38502884_38502885insGGGGCCA082719RYR1c.7840_7841insGGGGC (p.Ile2614ArgfsTer?)
c.7837_7838insGGGGC (p.Ile2613ArgfsTer?)
c.1292_1293insGGGGC
n.7923_7924insGGGGC
19g.38502885T>ACA405673525RYR1c.7841T>A (p.Ile2614Asn)
c.7838T>A (p.Ile2613Asn)
c.1293T>A
n.7924T>A
ClinVar dbSNP gnomAD v4
19g.38502885T>CCA405673527RYR1c.7841T>C (p.Ile2614Thr)
c.7838T>C (p.Ile2613Thr)
c.1293T>C
n.7924T>C
dbSNP gnomAD v2 gnomAD v4
19g.38502885T>GCA405673529RYR1c.7841T>G (p.Ile2614Ser)
c.7838T>G (p.Ile2613Ser)
c.1293T>G
n.7924T>G
gnomAD v4
19g.38502885T=CA2335054799RYR1c.7841T= (p.Ile2614=)
c.7838T= (p.Ile2613=)
c.1293T=
n.7924T=
19g.38502886C>ACA507354024RYR1c.7842C>A (p.Ile2614=)
c.7839C>A (p.Ile2613=)
c.1294C>A
n.7925C>A
19g.38502886C=CA2335054800RYR1c.7842C= (p.Ile2614=)
c.7839C= (p.Ile2613=)
c.1294C=
n.7925C=
19g.38502886C>GCA405673531RYR1c.7842C>G (p.Ile2614Met)
c.7839C>G (p.Ile2613Met)
c.1294C>G
n.7925C>G
ClinVar gnomAD v4
19g.38502886C>TCA070814RYR1c.7842C>T (p.Ile2614=)
c.7839C>T (p.Ile2613=)
c.1294C>T
n.7925C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502886_38502887delinsAACA082762RYR1c.7842_7843delinsAA (p.Arg2615Ser)
c.7839_7840delinsAA (p.Arg2614Ser)
c.1294_1295delinsAA
n.7925_7926delinsAA
19g.38502887C>ACA405673540RYR1c.7843C>A (p.Arg2615Ser)
c.7840C>A (p.Arg2614Ser)
c.1295C>A
n.7926C>A
gnomAD v4
19g.38502887C=CA2335054801RYR1c.7843C= (p.Arg2615=)
c.7840C= (p.Arg2614=)
c.1295C=
n.7926C=
19g.38502887C>GCA405673541RYR1c.7843C>G (p.Arg2615Gly)
c.7840C>G (p.Arg2614Gly)
c.1295C>G
n.7926C>G
ClinVar gnomAD v4
19g.38502887C>TCA405673535RYR1c.7843C>T (p.Arg2615Cys)
c.7840C>T (p.Arg2614Cys)
c.1295C>T
n.7926C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>ACA070820RYR1c.7844G>A (p.Arg2615His)
c.7841G>A (p.Arg2614His)
c.1296G>A
n.7927G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502888G>CCA405673546RYR1c.7844G>C (p.Arg2615Pro)
c.7841G>C (p.Arg2614Pro)
c.1296G>C
n.7927G>C
gnomAD v4
19g.38502888G=CA2335054802RYR1c.7844G= (p.Arg2615=)
c.7841G= (p.Arg2614=)
c.1296G=
n.7927G=
19g.38502888G>TCA405673547RYR1c.7844G>T (p.Arg2615Leu)
c.7841G>T (p.Arg2614Leu)
c.1296G>T
n.7927G>T
gnomAD v4
19g.38502888_38502889delinsGCCA2335054803RYR1c.7844_7845delinsGC (p.Arg2615=)
c.7841_7842delinsGC (p.Arg2614=)
c.1296_1297delinsGC
n.7927_7928delinsGC
19g.38502889C>ACA507354030RYR1c.7845C>A (p.Arg2615=)
c.7842C>A (p.Arg2614=)
c.1297C>A
n.7928C>A
19g.38502889C=CA2335054804RYR1c.7845C= (p.Arg2615=)
c.7842C= (p.Arg2614=)
c.1297C=
n.7928C=
19g.38502889C>GCA082767RYR1c.7845C>G (p.Arg2615=)
c.7842C>G (p.Arg2614=)
c.1297C>G
n.7928C>G
ClinVar gnomAD v4
19g.38502889C>TCA082769RYR1c.7845C>T (p.Arg2615=)
c.7842C>T (p.Arg2614=)
c.1297C>T
n.7928C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502891delCA1139666424RYR1c.7847del (p.Pro2616ArgfsTer?)
c.7844del (p.Pro2615ArgfsTer?)
c.1299del
n.7930del
ClinVar dbSNP
19g.38502890C>ACA405673550RYR1c.7846C>A (p.Pro2616Thr)
c.7843C>A (p.Pro2615Thr)
c.1298C>A
n.7929C>A
gnomAD v4
19g.38502890C>GCA405673553RYR1c.7846C>G (p.Pro2616Ala)
c.7843C>G (p.Pro2615Ala)
c.1298C>G
n.7929C>G
19g.38502890C>TCA405673565RYR1c.7846C>T (p.Pro2616Ser)
c.7843C>T (p.Pro2615Ser)
c.1298C>T
n.7929C>T
ClinVar dbSNP gnomAD v4
19g.38502891C>ACA405673574RYR1c.7847C>A (p.Pro2616Gln)
c.7844C>A (p.Pro2615Gln)
c.1299C>A
n.7930C>A
19g.38502891C=CA2335054805RYR1c.7847C= (p.Pro2616=)
c.7844C= (p.Pro2615=)
c.1299C=
n.7930C=
19g.38502891C>GCA405673568RYR1c.7847C>G (p.Pro2616Arg)
c.7844C>G (p.Pro2615Arg)
c.1299C>G
n.7930C>G
ClinVar dbSNP
19g.38502891C>TCA405673570RYR1c.7847C>T (p.Pro2616Leu)
c.7844C>T (p.Pro2615Leu)
c.1299C>T
n.7930C>T
COSMIC
19g.38502892G>ACA070828RYR1c.7848G>A (p.Pro2616=)
c.7845G>A (p.Pro2615=)
c.1300G>A
n.7931G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502892G>CCA308113326RYR1c.7848G>C (p.Pro2616=)
c.7845G>C (p.Pro2615=)
c.1300G>C
n.7931G>C
ClinVar dbSNP gnomAD v4
19g.38502892G=CA2335054806RYR1c.7848G= (p.Pro2616=)
c.7845G= (p.Pro2615=)
c.1300G=
n.7931G=
19g.38502892G>TCA507354034RYR1c.7848G>T (p.Pro2616=)
c.7845G>T (p.Pro2615=)
c.1300G>T
n.7931G>T
ClinVar dbSNP gnomAD v4
19g.38502893T>ACA405673580RYR1c.7849T>A (p.Ser2617Thr)
c.7846T>A (p.Ser2616Thr)
c.1301T>A
n.7932T>A
19g.38502893T>CCA405673583RYR1c.7849T>C (p.Ser2617Pro)
c.7846T>C (p.Ser2616Pro)
c.1301T>C
n.7932T>C
gnomAD v4
19g.38502893T>GCA405673586RYR1c.7849T>G (p.Ser2617Ala)
c.7846T>G (p.Ser2616Ala)
c.1301T>G
n.7932T>G
19g.38502894C>ACA405673588RYR1c.7850C>A (p.Ser2617Ter)
c.7847C>A (p.Ser2616Ter)
c.1302C>A
n.7933C>A
ClinVar dbSNP
19g.38502894C=CA2335054807RYR1c.7850C= (p.Ser2617=)
c.7847C= (p.Ser2616=)
c.1302C=
n.7933C=
19g.38502894C>GCA082684RYR1c.7850C>G (p.Ser2617Trp)
c.7847C>G (p.Ser2616Trp)
c.1302C>G
n.7933C>G
ClinVar
19g.38502894C>TCA070831RYR1c.7850C>T (p.Ser2617Leu)
c.7847C>T (p.Ser2616Leu)
c.1302C>T
n.7933C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502895G>ACA070838RYR1c.7851G>A (p.Ser2617=)
c.7848G>A (p.Ser2616=)
c.1303G>A
n.7934G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502895G>CCA507354036RYR1c.7851G>C (p.Ser2617=)
c.7848G>C (p.Ser2616=)
c.1303G>C
n.7934G>C
gnomAD v4
19g.38502895G=CA2335054808RYR1c.7851G= (p.Ser2617=)
c.7848G= (p.Ser2616=)
c.1303G=
n.7934G=
19g.38502895G>TCA507354037RYR1c.7851G>T (p.Ser2617=)
c.7848G>T (p.Ser2616=)
c.1303G>T
n.7934G>T
ClinVar dbSNP gnomAD v4
19g.38502896A=CA2335054809RYR1c.7852A= (p.Met2618=)
c.7849A= (p.Met2617=)
c.1304A=
n.7935A=
19g.38502896A>CCA405673605RYR1c.7852A>C (p.Met2618Leu)
c.7849A>C (p.Met2617Leu)
c.1304A>C
n.7935A>C
gnomAD v4
19g.38502896A>GCA405673611RYR1c.7852A>G (p.Met2618Val)
c.7849A>G (p.Met2617Val)
c.1304A>G
n.7935A>G
dbSNP gnomAD v3 gnomAD v4
19g.38502896A>TCA405673614RYR1c.7852A>T (p.Met2618Leu)
c.7849A>T (p.Met2617Leu)
c.1304A>T
n.7935A>T
19g.38502897T>ACA405673629RYR1c.7853T>A (p.Met2618Lys)
c.7850T>A (p.Met2617Lys)
c.1305T>A
n.7936T>A
gnomAD v4
19g.38502897T>CCA070844RYR1c.7853T>C (p.Met2618Thr)
c.7850T>C (p.Met2617Thr)
c.1305T>C
n.7936T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502897T>GCA405673638RYR1c.7853T>G (p.Met2618Arg)
c.7850T>G (p.Met2617Arg)
c.1305T>G
n.7936T>G
ClinVar gnomAD v4
19g.38502897T=CA2335054810RYR1c.7853T= (p.Met2618=)
c.7850T= (p.Met2617=)
c.1305T=
n.7936T=
19g.38502898G>ACA070853RYR1c.7854G>A (p.Met2618Ile)
c.7851G>A (p.Met2617Ile)
c.1306G>A
n.7937G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502898G>CCA405673645RYR1c.7854G>C (p.Met2618Ile)
c.7851G>C (p.Met2617Ile)
c.1306G>C
n.7937G>C
19g.38502898G=CA2335054811RYR1c.7854G= (p.Met2618=)
c.7851G= (p.Met2617=)
c.1306G=
n.7937G=
19g.38502898G>TCA405673648RYR1c.7854G>T (p.Met2618Ile)
c.7851G>T (p.Met2617Ile)
c.1306G>T
n.7937G>T
gnomAD v4
19g.38502899delCA2584901126RYR1c.7855del (p.Leu2619CysfsTer?)
c.7852del (p.Leu2618CysfsTer?)
c.1307del
n.7938del
ClinVar gnomAD v4
19g.38502899C>ACA405673651RYR1c.7855C>A (p.Leu2619Met)
c.7852C>A (p.Leu2618Met)
c.1307C>A
n.7938C>A
19g.38502899C=CA2335054812RYR1c.7855C= (p.Leu2619=)
c.7852C= (p.Leu2618=)
c.1307C=
n.7938C=
19g.38502899C>GCA405673653RYR1c.7855C>G (p.Leu2619Val)
c.7852C>G (p.Leu2618Val)
c.1307C>G
n.7938C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502899C>TCA070859RYR1c.7855C>T (p.Leu2619=)
c.7852C>T (p.Leu2618=)
c.1307C>T
n.7938C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502900T>ACA405673656RYR1c.7856T>A (p.Leu2619Gln)
c.7853T>A (p.Leu2618Gln)
c.1308T>A
n.7939T>A
dbSNP gnomAD v2
19g.38502900T>CCA082875RYR1c.7856T>C (p.Leu2619Pro)
c.7853T>C (p.Leu2618Pro)
c.1308T>C
n.7939T>C
ClinVar dbSNP
19g.38502900T>GCA405673657RYR1c.7856T>G (p.Leu2619Arg)
c.7853T>G (p.Leu2618Arg)
c.1308T>G
n.7939T>G
19g.38502900T=CA2335054813RYR1c.7856T= (p.Leu2619=)
c.7853T= (p.Leu2618=)
c.1308T=
n.7939T=
19g.38502901_38502902insAGGGTGCA082695RYR1c.7857_7858insAGGGTG (p.Leu2619_Gln2620insArgVal)
c.7854_7855insAGGGTG (p.Leu2618_Gln2619insArgVal)
c.1309_1310insAGGGTG
n.7940_7941insAGGGTG
19g.38502901G>ACA070866RYR1c.7857G>A (p.Leu2619=)
c.7854G>A (p.Leu2618=)
c.1309G>A
n.7940G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502901G>CCA507354040RYR1c.7857G>C (p.Leu2619=)
c.7854G>C (p.Leu2618=)
c.1309G>C
n.7940G>C
ClinVar dbSNP gnomAD v4
19g.38502901G=CA2335054814RYR1c.7857G= (p.Leu2619=)
c.7854G= (p.Leu2618=)
c.1309G=
n.7940G=
19g.38502901G>TCA507354039RYR1c.7857G>T (p.Leu2619=)
c.7854G>T (p.Leu2618=)
c.1309G>T
n.7940G>T
gnomAD v4
19g.38502902C>ACA405673663RYR1c.7858C>A (p.Gln2620Lys)
c.7855C>A (p.Gln2619Lys)
c.1310C>A
n.7941C>A
dbSNP
19g.38502902C=CA2335054815RYR1c.7858C= (p.Gln2620=)
c.7855C= (p.Gln2619=)
c.1310C=
n.7941C=
19g.38502902C>GCA405673659RYR1c.7858C>G (p.Gln2620Glu)
c.7855C>G (p.Gln2619Glu)
c.1310C>G
n.7941C>G
gnomAD v4
19g.38502902C>TCA082877RYR1c.7858C>T (p.Gln2620Ter)
c.7855C>T (p.Gln2619Ter)
c.1310C>T
n.7941C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502903A=CA2335054816RYR1c.7859A= (p.Gln2620=)
c.7856A= (p.Gln2619=)
c.1311A=
n.7942A=
19g.38502903A>CCA405673674RYR1c.7859A>C (p.Gln2620Pro)
c.7856A>C (p.Gln2619Pro)
c.1311A>C
n.7942A>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502903A>GCA405673676RYR1c.7859A>G (p.Gln2620Arg)
c.7856A>G (p.Gln2619Arg)
c.1311A>G
n.7942A>G
19g.38502903A>TCA405673680RYR1c.7859A>T (p.Gln2620Leu)
c.7856A>T (p.Gln2619Leu)
c.1311A>T
n.7942A>T
19g.38502904G>ACA070869RYR1c.7860G>A (p.Gln2620=)
c.7857G>A (p.Gln2619=)
c.1312G>A
n.7943G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502904G>CCA405673688RYR1c.7860G>C (p.Gln2620His)
c.7857G>C (p.Gln2619His)
c.1312G>C
n.7943G>C
19g.38502904G=CA2335054817RYR1c.7860G= (p.Gln2620=)
c.7857G= (p.Gln2619=)
c.1312G=
n.7943G=
19g.38502904G>TCA405673689RYR1c.7860G>T (p.Gln2620His)
c.7857G>T (p.Gln2619His)
c.1312G>T
n.7943G>T
19g.38502905C>ACA405673691RYR1c.7861C>A (p.His2621Asn)
c.7858C>A (p.His2620Asn)
c.1313C>A
n.7944C>A
19g.38502905C=CA2335054818RYR1c.7861C= (p.His2621=)
c.7858C= (p.His2620=)
c.1313C=
n.7944C=
19g.38502905C>GCA405673693RYR1c.7861C>G (p.His2621Asp)
c.7858C>G (p.His2620Asp)
c.1313C>G
n.7944C>G
19g.38502905C>TCA070877RYR1c.7861C>T (p.His2621Tyr)
c.7858C>T (p.His2620Tyr)
c.1313C>T
n.7944C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502906A=CA2335054819RYR1c.7862A= (p.His2621=)
c.7859A= (p.His2620=)
c.1314A=
n.7945A=
19g.38502906A>CCA405673706RYR1c.7862A>C (p.His2621Pro)
c.7859A>C (p.His2620Pro)
c.1314A>C
n.7945A>C
dbSNP gnomAD v3 gnomAD v4
19g.38502906A>GCA405673700RYR1c.7862A>G (p.His2621Arg)
c.7859A>G (p.His2620Arg)
c.1314A>G
n.7945A>G
dbSNP gnomAD v2 gnomAD v4
19g.38502906A>TCA405673703RYR1c.7862A>T (p.His2621Leu)
c.7859A>T (p.His2620Leu)
c.1314A>T
n.7945A>T
19g.38502907C>ACA405673709RYR1c.7863C>A (p.His2621Gln)
c.7860C>A (p.His2620Gln)
c.1315C>A
n.7946C>A
19g.38502907C=CA2335054820RYR1c.7863C= (p.His2621=)
c.7860C= (p.His2620=)
c.1315C=
n.7946C=
19g.38502907C>GCA405673729RYR1c.7863C>G (p.His2621Gln)
c.7860C>G (p.His2620Gln)
c.1315C>G
n.7946C>G
ClinVar dbSNP gnomAD v4
19g.38502907C>TCA024868RYR1c.7863C>T (p.His2621=)
c.7860C>T (p.His2620=)
c.1315C>T
n.7946C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502907_38502908delinsCCCA2335054821RYR1c.7863_7864delinsCC (p.His2621=)
c.7860_7861delinsCC (p.His2620=)
c.1315_1316delinsCC
n.7946_7947delinsCC
19g.38502907_38502908delinsTTCA915952999RYR1c.7863_7864delinsTT (p.His2621=)
c.7860_7861delinsTT (p.His2620=)
c.1315_1316delinsTT
n.7946_7947delinsTT
ClinVar dbSNP
19g.38502908C>ACA405673732RYR1c.7864C>A (p.Leu2622Met)
c.7861C>A (p.Leu2621Met)
c.1316C>A
n.7947C>A
19g.38502908C=CA2335054822RYR1c.7864C= (p.Leu2622=)
c.7861C= (p.Leu2621=)
c.1316C=
n.7947C=
19g.38502908C>GCA405673733RYR1c.7864C>G (p.Leu2622Val)
c.7861C>G (p.Leu2621Val)
c.1316C>G
n.7947C>G
ClinVar gnomAD v4
19g.38502908C>TCA082716RYR1c.7864C>T (p.Leu2622=)
c.7861C>T (p.Leu2621=)
c.1316C>T
n.7947C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502909T>ACA405673738RYR1c.7865T>A (p.Leu2622Gln)
c.7862T>A (p.Leu2621Gln)
c.1317T>A
n.7948T>A
19g.38502909T>CCA405673741RYR1c.7865T>C (p.Leu2622Pro)
c.7862T>C (p.Leu2621Pro)
c.1317T>C
n.7948T>C
gnomAD v4
19g.38502909T>GCA405673744RYR1c.7865T>G (p.Leu2622Arg)
c.7862T>G (p.Leu2621Arg)
c.1317T>G
n.7948T>G
19g.38502911_38502913delCA082721RYR1c.7867_7869del (p.Leu2623del)
c.7864_7866del (p.Leu2622del)
c.1319_1321del
n.7950_7952del
19g.38502910G>ACA507354045RYR1c.7866G>A (p.Leu2622=)
c.7863G>A (p.Leu2621=)
c.1318G>A
n.7949G>A
ClinVar dbSNP gnomAD v4
19g.38502910G>CCA507354046RYR1c.7866G>C (p.Leu2622=)
c.7863G>C (p.Leu2621=)
c.1318G>C
n.7949G>C
ClinVar dbSNP
19g.38502910G=CA2335054823RYR1c.7866G= (p.Leu2622=)
c.7863G= (p.Leu2621=)
c.1318G=
n.7949G=
19g.38502910G>TCA507354047RYR1c.7866G>T (p.Leu2622=)
c.7863G>T (p.Leu2621=)
c.1318G>T
n.7949G>T
ClinVar gnomAD v4
19g.38502911T>ACA405673746RYR1c.7867T>A (p.Leu2623Met)
c.7864T>A (p.Leu2622Met)
c.1319T>A
n.7950T>A
gnomAD v4
19g.38502911T>CCA507354048RYR1c.7867T>C (p.Leu2623=)
c.7864T>C (p.Leu2622=)
c.1319T>C
n.7950T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502911T>GCA405673749RYR1c.7867T>G (p.Leu2623Val)
c.7864T>G (p.Leu2622Val)
c.1319T>G
n.7950T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502911T=CA2335054824RYR1c.7867T= (p.Leu2623=)
c.7864T= (p.Leu2622=)
c.1319T=
n.7950T=
19g.38502912T>ACA405673754RYR1c.7868T>A (p.Leu2623Ter)
c.7865T>A (p.Leu2622Ter)
c.1320T>A
n.7951T>A
19g.38502912T>CCA405673759RYR1c.7868T>C (p.Leu2623Ser)
c.7865T>C (p.Leu2622Ser)
c.1320T>C
n.7951T>C
19g.38502912T>GCA405673751RYR1c.7868T>G (p.Leu2623Trp)
c.7865T>G (p.Leu2622Trp)
c.1320T>G
n.7951T>G
19g.38502913G>ACA070899RYR1c.7869G>A (p.Leu2623=)
c.7866G>A (p.Leu2622=)
c.1321G>A
n.7952G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502913G>CCA405673763RYR1c.7869G>C (p.Leu2623Phe)
c.7866G>C (p.Leu2622Phe)
c.1321G>C
n.7952G>C
ClinVar gnomAD v4
19g.38502913G=CA2335054825RYR1c.7869G= (p.Leu2623=)
c.7866G= (p.Leu2622=)
c.1321G=
n.7952G=
19g.38502913G>TCA405673776RYR1c.7869G>T (p.Leu2623Phe)
c.7866G>T (p.Leu2622Phe)
c.1321G>T
n.7952G>T
gnomAD v4
19g.38502914C>ACA405673782RYR1c.7870C>A (p.Arg2624Ser)
c.7867C>A (p.Arg2623Ser)
c.1322C>A
n.7953C>A
19g.38502914C=CA2335054826RYR1c.7870C= (p.Arg2624=)
c.7867C= (p.Arg2623=)
c.1322C=
n.7953C=
19g.38502914C>GCA405673790RYR1c.7870C>G (p.Arg2624Gly)
c.7867C>G (p.Arg2623Gly)
c.1322C>G
n.7953C>G
gnomAD v4
19g.38502914C>TCA082728RYR1c.7870C>T (p.Arg2624Cys)
c.7867C>T (p.Arg2623Cys)
c.1322C>T
n.7953C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502918_38502955delCA082731RYR1c.7874_7911del (p.Arg2625GlnfsTer12)
c.7871_7908del (p.Arg2624GlnfsTer12)
c.1326_1363del
n.7957_7994del
19g.38502915G>ACA405673794RYR1c.7871G>A (p.Arg2624His)
c.7868G>A (p.Arg2623His)
c.1323G>A
n.7954G>A
dbSNP gnomAD v2 gnomAD v4
19g.38502915G>CCA405673797RYR1c.7871G>C (p.Arg2624Pro)
c.7868G>C (p.Arg2623Pro)
c.1323G>C
n.7954G>C
ClinVar gnomAD v4
19g.38502915G=CA2335054827RYR1c.7871G= (p.Arg2624=)
c.7868G= (p.Arg2623=)
c.1323G=
n.7954G=
19g.38502915G>TCA405673799RYR1c.7871G>T (p.Arg2624Leu)
c.7868G>T (p.Arg2623Leu)
c.1323G>T
n.7954G>T
gnomAD v4
19g.38502916C>ACA070913RYR1c.7872C>A (p.Arg2624=)
c.7869C>A (p.Arg2623=)
c.1324C>A
n.7955C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502916C=CA2335054828RYR1c.7872C= (p.Arg2624=)
c.7869C= (p.Arg2623=)
c.1324C=
n.7955C=
19g.38502916C>GCA308113415RYR1c.7872C>G (p.Arg2624=)
c.7869C>G (p.Arg2623=)
c.1324C>G
n.7955C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502916C>TCA024870RYR1c.7872C>T (p.Arg2624=)
c.7869C>T (p.Arg2623=)
c.1324C>T
n.7955C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502916_38502917delinsTTCA2573156352RYR1c.7872_7873delinsTT (p.Arg2625Cys)
c.7869_7870delinsTT (p.Arg2624Cys)
c.1324_1325delinsTT
n.7955_7956delinsTT
ClinVar dbSNP
19g.38502917C>ACA405673804RYR1c.7873C>A (p.Arg2625Ser)
c.7870C>A (p.Arg2624Ser)
c.1325C>A
n.7956C>A
19g.38502917C=CA2335054829RYR1c.7873C= (p.Arg2625=)
c.7870C= (p.Arg2624=)
c.1325C=
n.7956C=
19g.38502917C>GCA405673801RYR1c.7873C>G (p.Arg2625Gly)
c.7870C>G (p.Arg2624Gly)
c.1325C>G
n.7956C>G
19g.38502917C>TCA070926RYR1c.7873C>T (p.Arg2625Cys)
c.7870C>T (p.Arg2624Cys)
c.1325C>T
n.7956C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502918G>ACA070928RYR1c.7874G>A (p.Arg2625His)
c.7871G>A (p.Arg2624His)
c.1326G>A
n.7957G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502918G>CCA405673814RYR1c.7874G>C (p.Arg2625Pro)
c.7871G>C (p.Arg2624Pro)
c.1326G>C
n.7957G>C
ClinVar dbSNP
19g.38502918G=CA2335054830RYR1c.7874G= (p.Arg2625=)
c.7871G= (p.Arg2624=)
c.1326G=
n.7957G=
19g.38502918G>TCA070934RYR1c.7874G>T (p.Arg2625Leu)
c.7871G>T (p.Arg2624Leu)
c.1326G>T
n.7957G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502918_38502926delinsACA082738RYR1c.7874_7882delinsA (p.Arg2625HisfsTer22)
c.7871_7879delinsA (p.Arg2624HisfsTer22)
c.1326_1334delinsA
n.7957_7965delinsA
19g.38502919C>ACA082891RYR1c.7875C>A (p.Arg2625=)
c.7872C>A (p.Arg2624=)
c.1327C>A
n.7958C>A
gnomAD v4
19g.38502919C=CA2335054831RYR1c.7875C= (p.Arg2625=)
c.7872C= (p.Arg2624=)
c.1327C=
n.7958C=
19g.38502919C>GCA070940RYR1c.7875C>G (p.Arg2625=)
c.7872C>G (p.Arg2624=)
c.1327C>G
n.7958C>G
dbSNP ExAC gnomAD v4
19g.38502919C>TCA070942RYR1c.7875C>T (p.Arg2625=)
c.7872C>T (p.Arg2624=)
c.1327C>T
n.7958C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502920C>ACA405673819RYR1c.7876C>A (p.Leu2626Met)
c.7873C>A (p.Leu2625Met)
c.1328C>A
n.7959C>A
gnomAD v4
19g.38502920C=CA2335054832RYR1c.7876C= (p.Leu2626=)
c.7873C= (p.Leu2625=)
c.1328C=
n.7959C=
19g.38502920C>GCA070948RYR1c.7876C>G (p.Leu2626Val)
c.7873C>G (p.Leu2625Val)
c.1328C>G
n.7959C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502920C>TCA070955RYR1c.7876C>T (p.Leu2626=)
c.7873C>T (p.Leu2625=)
c.1328C>T
n.7959C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502920_38502923delinsAGGCCA082745RYR1c.7876_7879delinsAGGC (p.Leu2626_Val2627delinsArgLeu)
c.7873_7876delinsAGGC (p.Leu2625_Val2626delinsArgLeu)
c.1328_1331delinsAGGC
n.7959_7962delinsAGGC
19g.38502921T>ACA405673834RYR1c.7877T>A (p.Leu2626Gln)
c.7874T>A (p.Leu2625Gln)
c.1329T>A
n.7960T>A
dbSNP
19g.38502921T>CCA405673837RYR1c.7877T>C (p.Leu2626Pro)
c.7874T>C (p.Leu2625Pro)
c.1329T>C
n.7960T>C
19g.38502921T>GCA070956RYR1c.7877T>G (p.Leu2626Arg)
c.7874T>G (p.Leu2625Arg)
c.1329T>G
n.7960T>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502921T=CA2335054833RYR1c.7877T= (p.Leu2626=)
c.7874T= (p.Leu2625=)
c.1329T=
n.7960T=
19g.38502922G>ACA070962RYR1c.7878G>A (p.Leu2626=)
c.7875G>A (p.Leu2625=)
c.1330G>A
n.7961G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502922G>CCA070963RYR1c.7878G>C (p.Leu2626=)
c.7875G>C (p.Leu2625=)
c.1330G>C
n.7961G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502922G=CA2335054834RYR1c.7878G= (p.Leu2626=)
c.7875G= (p.Leu2625=)
c.1330G=
n.7961G=
19g.38502922G>TCA507354059RYR1c.7878G>T (p.Leu2626=)
c.7875G>T (p.Leu2625=)
c.1330G>T
n.7961G>T
gnomAD v4
19g.38502923G>ACA405673885RYR1c.7879G>A (p.Val2627Met)
c.7876G>A (p.Val2626Met)
c.1331G>A
n.7962G>A
ClinVar dbSNP gnomAD v4
19g.38502923G>CCA308113474RYR1c.7879G>C (p.Val2627Leu)
c.7876G>C (p.Val2626Leu)
c.1331G>C
n.7962G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502923G=CA2335054835RYR1c.7879G= (p.Val2627=)
c.7876G= (p.Val2626=)
c.1331G=
n.7962G=
19g.38502923G>TCA405673868RYR1c.7879G>T (p.Val2627Leu)
c.7876G>T (p.Val2626Leu)
c.1331G>T
n.7962G>T
gnomAD v4
19g.38502924T>ACA405673889RYR1c.7880T>A (p.Val2627Glu)
c.7877T>A (p.Val2626Glu)
c.1332T>A
n.7963T>A
19g.38502924T>CCA070969RYR1c.7880T>C (p.Val2627Ala)
c.7877T>C (p.Val2626Ala)
c.1332T>C
n.7963T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502924T>GCA082908RYR1c.7880T>G (p.Val2627Gly)
c.7877T>G (p.Val2626Gly)
c.1332T>G
n.7963T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502924T=CA2335054836RYR1c.7880T= (p.Val2627=)
c.7877T= (p.Val2626=)
c.1332T=
n.7963T=
19g.38502924_38502939delinsACA082754RYR1c.7880_7895delinsA (p.Val2627_Ile2632delinsAsp)
c.7877_7892delinsA (p.Val2626_Ile2631delinsAsp)
c.1332_1347delinsA
n.7963_7978delinsA
19g.38502925G>ACA070973RYR1c.7881G>A (p.Val2627=)
c.7878G>A (p.Val2626=)
c.1333G>A
n.7964G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502925G>CCA082912RYR1c.7881G>C (p.Val2627=)
c.7878G>C (p.Val2626=)
c.1333G>C
n.7964G>C
19g.38502925G=CA2335054837RYR1c.7881G= (p.Val2627=)
c.7878G= (p.Val2626=)
c.1333G=
n.7964G=
19g.38502925G>TCA507354060RYR1c.7881G>T (p.Val2627=)
c.7878G>T (p.Val2626=)
c.1333G>T
n.7964G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502926_38502929delCA082759RYR1c.7882_7885del (p.Phe2628ThrfsTer?)
c.7879_7882del (p.Phe2627ThrfsTer?)
c.1334_1337del
n.7965_7968del
19g.38502926T>ACA405673894RYR1c.7882T>A (p.Phe2628Ile)
c.7879T>A (p.Phe2627Ile)
c.1334T>A
n.7965T>A
19g.38502926T>CCA405673906RYR1c.7882T>C (p.Phe2628Leu)
c.7879T>C (p.Phe2627Leu)
c.1334T>C
n.7965T>C
19g.38502926T>GCA405673917RYR1c.7882T>G (p.Phe2628Val)
c.7879T>G (p.Phe2627Val)
c.1334T>G
n.7965T>G
19g.38502927T>ACA405673932RYR1c.7883T>A (p.Phe2628Tyr)
c.7880T>A (p.Phe2627Tyr)
c.1335T>A
n.7966T>A
19g.38502927T>CCA082915RYR1c.7883T>C (p.Phe2628Ser)
c.7880T>C (p.Phe2627Ser)
c.1335T>C
n.7966T>C
19g.38502927T>GCA405673943RYR1c.7883T>G (p.Phe2628Cys)
c.7880T>G (p.Phe2627Cys)
c.1335T>G
n.7966T>G
19g.38502928C>ACA405673944RYR1c.7884C>A (p.Phe2628Leu)
c.7881C>A (p.Phe2627Leu)
c.1336C>A
n.7967C>A
19g.38502928C=CA2335054838RYR1c.7884C= (p.Phe2628=)
c.7881C= (p.Phe2627=)
c.1336C=
n.7967C=
19g.38502928C>GCA405673948RYR1c.7884C>G (p.Phe2628Leu)
c.7881C>G (p.Phe2627Leu)
c.1336C>G
n.7967C>G
19g.38502928C>TCA070978RYR1c.7884C>T (p.Phe2628=)
c.7881C>T (p.Phe2627=)
c.1336C>T
n.7967C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502930_38502932dupCA2825002790RYR1c.7886_7888dup (p.Asp2629_Val2630insAsp)
c.7883_7885dup (p.Asp2628_Val2629insAsp)
c.1338_1340dup
n.7969_7971dup
ClinVar

Number of alleles fetched