Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38565161_38565222delCA2584909119RYR1c.1237_1298del
c.1219_1280del
c.12827_12888del (p.Glu4276GlyfsTer?)
c.12812_12873del (p.Glu4271GlyfsTer?)
c.12809_12870del (p.Glu4270GlyfsTer?)
c.6196_6257del
c.12794_12855del (p.Glu4265GlyfsTer?)
c.12824_12885del (p.Glu4275GlyfsTer?)
gnomAD v4
19g.38565174_38565194delCA2736030513RYR1c.1250_1270del
c.1232_1252del
c.12840_12860del (p.Gly4281_Ala4287del)
c.12825_12845del (p.Gly4276_Ala4282del)
c.12822_12842del (p.Gly4275_Ala4281del)
c.6209_6229del
c.12807_12827del (p.Gly4270_Ala4276del)
c.12837_12857del (p.Gly4280_Ala4286del)
dbSNP
19g.38565178_38565210delCA2584909122RYR1c.1254_1286del
c.1236_1268del
c.12844_12876del (p.Leu4282_Gly4292del)
c.12829_12861del (p.Leu4277_Gly4287del)
c.12826_12858del (p.Leu4276_Gly4286del)
c.6213_6245del
c.12811_12843del (p.Leu4271_Gly4281del)
c.12841_12873del (p.Leu4281_Gly4291del)
gnomAD v4
19g.38565177_38565194dupCA2335084705RYR1c.1253_1270dup
c.1235_1252dup
c.12843_12860dup (p.Ala4287_Thr4288insLeuGluGlyThrAlaAla)
c.12828_12845dup (p.Ala4282_Thr4283insLeuGluGlyThrAlaAla)
c.12825_12842dup (p.Ala4281_Thr4282insLeuGluGlyThrAlaAla)
c.6212_6229dup
c.12810_12827dup (p.Ala4276_Thr4277insLeuGluGlyThrAlaAla)
c.12840_12857dup (p.Ala4286_Thr4287insLeuGluGlyThrAlaAla)
dbSNP gnomAD v4
19g.38565185_38565194delinsGCACGGCGGCCA2335084711RYR1c.1261_1270delinsGCACGGCGGC
c.1243_1252delinsGCACGGCGGC
c.12851_12860delinsGCACGGCGGC (p.Gly4284=)
c.12836_12845delinsGCACGGCGGC (p.Gly4279=)
c.12833_12842delinsGCACGGCGGC (p.Gly4278=)
c.6220_6229delinsGCACGGCGGC
c.12818_12827delinsGCACGGCGGC (p.Gly4273=)
c.12848_12857delinsGCACGGCGGC (p.Gly4283=)
19g.38565195_38565203dupCA024013RYR1c.1271_1279dup
c.1253_1261dup
c.12861_12869dup (p.Ala4290_Ala4291insThrAlaAla)
c.12846_12854dup (p.Ala4285_Ala4286insThrAlaAla)
c.12843_12851dup (p.Ala4284_Ala4285insThrAlaAla)
c.6230_6238dup
c.12828_12836dup (p.Ala4279_Ala4280insThrAlaAla)
c.12858_12866dup (p.Ala4289_Ala4290insThrAlaAla)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565186_38565203dupCA891863127RYR1c.1262_1279dup
c.1244_1261dup
c.12852_12869dup (p.Ala4290_Ala4291insThrAlaAlaThrAlaAla)
c.12837_12854dup (p.Ala4285_Ala4286insThrAlaAlaThrAlaAla)
c.12834_12851dup (p.Ala4284_Ala4285insThrAlaAlaThrAlaAla)
c.6221_6238dup
c.12819_12836dup (p.Ala4279_Ala4280insThrAlaAlaThrAlaAla)
c.12849_12866dup (p.Ala4289_Ala4290insThrAlaAlaThrAlaAla)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565195_38565203delCA080772RYR1c.1271_1279del
c.1253_1261del
c.12861_12869del (p.Thr4288_Ala4290del)
c.12846_12854del (p.Thr4283_Ala4285del)
c.12843_12851del (p.Thr4282_Ala4284del)
c.6230_6238del
c.12828_12836del (p.Thr4277_Ala4279del)
c.12858_12866del (p.Thr4287_Ala4289del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38565187_38565198dupCA915953152RYR1c.1263_1274dup
c.1245_1256dup
c.12853_12864dup (p.Thr4288_Ala4289insThrAlaAlaThr)
c.12838_12849dup (p.Thr4283_Ala4284insThrAlaAlaThr)
c.12835_12846dup (p.Thr4282_Ala4283insThrAlaAlaThr)
c.6222_6233dup
c.12820_12831dup (p.Thr4277_Ala4278insThrAlaAlaThr)
c.12850_12861dup (p.Thr4287_Ala4288insThrAlaAlaThr)
ClinVar dbSNP gnomAD v4
19g.38565195_38565212dupCA995731487RYR1c.1271_1288dup
c.1253_1270dup
c.12861_12878dup (p.Ala4293_Thr4294insThrAlaAlaAlaGlyAla)
c.12846_12863dup (p.Ala4288_Thr4289insThrAlaAlaAlaGlyAla)
c.12843_12860dup (p.Ala4287_Thr4288insThrAlaAlaAlaGlyAla)
c.6230_6247dup
c.12828_12845dup (p.Ala4282_Thr4283insThrAlaAlaAlaGlyAla)
c.12858_12875dup (p.Ala4292_Thr4293insThrAlaAlaAlaGlyAla)
dbSNP gnomAD v3 gnomAD v4
19g.38565193_38565196delinsGCCACA2335084719RYR1c.1269_1272delinsGCCA
c.1251_1254delinsGCCA
c.12859_12862delinsGCCA (p.Ala4287=)
c.12844_12847delinsGCCA (p.Ala4282=)
c.12841_12844delinsGCCA (p.Ala4281=)
c.6228_6231delinsGCCA
c.12826_12829delinsGCCA (p.Ala4276=)
c.12856_12859delinsGCCA (p.Ala4286=)
19g.38565193_38565203delinsGCCACGGCGGCCA2335084718RYR1c.1269_1279delinsGCCACGGCGGC
c.1251_1261delinsGCCACGGCGGC
c.12859_12869delinsGCCACGGCGGC (p.Ala4287=)
c.12844_12854delinsGCCACGGCGGC (p.Ala4282=)
c.12841_12851delinsGCCACGGCGGC (p.Ala4281=)
c.6228_6238delinsGCCACGGCGGC
c.12826_12836delinsGCCACGGCGGC (p.Ala4276=)
c.12856_12866delinsGCCACGGCGGC (p.Ala4286=)
19g.38565194C>ACA405672351RYR1c.1270C>A
c.1252C>A
c.12860C>A (p.Ala4287Asp)
c.12845C>A (p.Ala4282Asp)
c.12842C>A (p.Ala4281Asp)
c.6229C>A
c.12827C>A (p.Ala4276Asp)
c.12857C>A (p.Ala4286Asp)
gnomAD v4
19g.38565194C=CA2335084720RYR1c.1270C=
c.1252C=
c.12860C= (p.Ala4287=)
c.12845C= (p.Ala4282=)
c.12842C= (p.Ala4281=)
c.6229C=
c.12827C= (p.Ala4276=)
c.12857C= (p.Ala4286=)
19g.38565194C>GCA405672354RYR1c.1270C>G
c.1252C>G
c.12860C>G (p.Ala4287Gly)
c.12845C>G (p.Ala4282Gly)
c.12842C>G (p.Ala4281Gly)
c.6229C>G
c.12827C>G (p.Ala4276Gly)
c.12857C>G (p.Ala4286Gly)
ClinVar dbSNP gnomAD v4
19g.38565194C>TCA405672355RYR1c.1270C>T
c.1252C>T
c.12860C>T (p.Ala4287Val)
c.12845C>T (p.Ala4282Val)
c.12842C>T (p.Ala4281Val)
c.6229C>T
c.12827C>T (p.Ala4276Val)
c.12857C>T (p.Ala4286Val)
gnomAD v4
19g.38565194_38565197delCA2584909127RYR1c.1270_1273del
c.1252_1255del
c.12860_12863del (p.Ala4287GlyfsTer?)
c.12845_12848del (p.Ala4282GlyfsTer?)
c.12842_12845del (p.Ala4281GlyfsTer?)
c.6229_6232del
c.12827_12830del (p.Ala4276GlyfsTer?)
c.12857_12860del (p.Ala4286GlyfsTer?)
gnomAD v4
19g.38565195_38565197delCA633066821RYR1c.1271_1273del
c.1253_1255del
c.12861_12863del (p.Thr4288del)
c.12846_12848del (p.Thr4283del)
c.12843_12845del (p.Thr4282del)
c.6230_6232del
c.12828_12830del (p.Thr4277del)
c.12858_12860del (p.Thr4287del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565194_38565203delinsTCA248295RYR1c.1270_1279delinsT
c.1252_1261delinsT
c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
c.12845_12854delinsT (p.Ala4282_Ala4285delinsVal)
c.12842_12851delinsT (p.Ala4281_Ala4284delinsVal)
c.6229_6238delinsT
c.12827_12836delinsT (p.Ala4276_Ala4279delinsVal)
c.12857_12866delinsT (p.Ala4286_Ala4289delinsVal)
ClinVar dbSNP
19g.38565195C>ACA507355469RYR1c.1271C>A
c.1253C>A
c.12861C>A (p.Ala4287=)
c.12846C>A (p.Ala4282=)
c.12843C>A (p.Ala4281=)
c.6230C>A
c.12828C>A (p.Ala4276=)
c.12858C>A (p.Ala4286=)
19g.38565195C=CA2335084721RYR1c.1271C=
c.1253C=
c.12861C= (p.Ala4287=)
c.12846C= (p.Ala4282=)
c.12843C= (p.Ala4281=)
c.6230C=
c.12828C= (p.Ala4276=)
c.12858C= (p.Ala4286=)
19g.38565195C>GCA507355470RYR1c.1271C>G
c.1253C>G
c.12861C>G (p.Ala4287=)
c.12846C>G (p.Ala4282=)
c.12843C>G (p.Ala4281=)
c.6230C>G
c.12828C>G (p.Ala4276=)
c.12858C>G (p.Ala4286=)
19g.38565195C>TCA507355471RYR1c.1271C>T
c.1253C>T
c.12861C>T (p.Ala4287=)
c.12846C>T (p.Ala4282=)
c.12843C>T (p.Ala4281=)
c.6230C>T
c.12828C>T (p.Ala4276=)
c.12858C>T (p.Ala4286=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565196A>CCA405672358RYR1c.1272A>C
c.1254A>C
c.12862A>C (p.Thr4288Pro)
c.12847A>C (p.Thr4283Pro)
c.12844A>C (p.Thr4282Pro)
c.6231A>C
c.12829A>C (p.Thr4277Pro)
c.12859A>C (p.Thr4287Pro)
19g.38565196A>GCA405672361RYR1c.1272A>G
c.1254A>G
c.12862A>G (p.Thr4288Ala)
c.12847A>G (p.Thr4283Ala)
c.12844A>G (p.Thr4282Ala)
c.6231A>G
c.12829A>G (p.Thr4277Ala)
c.12859A>G (p.Thr4287Ala)
gnomAD v3 gnomAD v4
19g.38565196A>TCA405672364RYR1c.1272A>T
c.1254A>T
c.12862A>T (p.Thr4288Ser)
c.12847A>T (p.Thr4283Ser)
c.12844A>T (p.Thr4282Ser)
c.6231A>T
c.12829A>T (p.Thr4277Ser)
c.12859A>T (p.Thr4287Ser)
gnomAD v4
19g.38565196_38565202delinsACGGCGGCA2335084722RYR1c.1272_1278delinsACGGCGG
c.1254_1260delinsACGGCGG
c.12862_12868delinsACGGCGG (p.Thr4288=)
c.12847_12853delinsACGGCGG (p.Thr4283=)
c.12844_12850delinsACGGCGG (p.Thr4282=)
c.6231_6237delinsACGGCGG
c.12829_12835delinsACGGCGG (p.Thr4277=)
c.12859_12865delinsACGGCGG (p.Thr4287=)
19g.38565196_38565204delCA2576772097RYR1c.1272_1280del
c.1254_1262del
c.12862_12870del (p.Thr4288_Ala4290del)
c.12847_12855del (p.Thr4283_Ala4285del)
c.12844_12852del (p.Thr4282_Ala4284del)
c.6231_6239del
c.12829_12837del (p.Thr4277_Ala4279del)
c.12859_12867del (p.Thr4287_Ala4289del)
19g.38565197C>ACA405672366RYR1c.1273C>A
c.1255C>A
c.12863C>A (p.Thr4288Lys)
c.12848C>A (p.Thr4283Lys)
c.12845C>A (p.Thr4282Lys)
c.6232C>A
c.12830C>A (p.Thr4277Lys)
c.12860C>A (p.Thr4287Lys)
gnomAD v4
19g.38565197C=CA2335084723RYR1c.1273C=
c.1255C=
c.12863C= (p.Thr4288=)
c.12848C= (p.Thr4283=)
c.12845C= (p.Thr4282=)
c.6232C=
c.12830C= (p.Thr4277=)
c.12860C= (p.Thr4287=)
19g.38565197C>GCA405672369RYR1c.1273C>G
c.1255C>G
c.12863C>G (p.Thr4288Arg)
c.12848C>G (p.Thr4283Arg)
c.12845C>G (p.Thr4282Arg)
c.6232C>G
c.12830C>G (p.Thr4277Arg)
c.12860C>G (p.Thr4287Arg)
19g.38565197C>TCA308109304RYR1c.1273C>T
c.1255C>T
c.12863C>T (p.Thr4288Met)
c.12848C>T (p.Thr4283Met)
c.12845C>T (p.Thr4282Met)
c.6232C>T
c.12830C>T (p.Thr4277Met)
c.12860C>T (p.Thr4287Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565206_38565208dupCA882058555RYR1c.1282_1284dup
c.1264_1266dup
c.12872_12874dup (p.Ala4291_Gly4292insAla)
c.12857_12859dup (p.Ala4286_Gly4287insAla)
c.12854_12856dup (p.Ala4285_Gly4286insAla)
c.6241_6243dup
c.12839_12841dup (p.Ala4280_Gly4281insAla)
c.12869_12871dup (p.Ala4290_Gly4291insAla)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565206_38565208delCA2335084724RYR1c.1282_1284del
c.1264_1266del
c.12872_12874del (p.Ala4291del)
c.12857_12859del (p.Ala4286del)
c.12854_12856del (p.Ala4285del)
c.6241_6243del
c.12839_12841del (p.Ala4280del)
c.12869_12871del (p.Ala4290del)
dbSNP gnomAD v4
19g.38565203_38565208delCA633066822RYR1c.1279_1284del
c.1261_1266del
c.12869_12874del (p.Ala4290_Ala4291del)
c.12854_12859del (p.Ala4285_Ala4286del)
c.12851_12856del (p.Ala4284_Ala4285del)
c.6238_6243del
c.12836_12841del (p.Ala4279_Ala4280del)
c.12866_12871del (p.Ala4289_Ala4290del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565198G>ACA507355474RYR1c.1274G>A
c.1256G>A
c.12864G>A (p.Thr4288=)
c.12849G>A (p.Thr4283=)
c.12846G>A (p.Thr4282=)
c.6233G>A
c.12831G>A (p.Thr4277=)
c.12861G>A (p.Thr4287=)
ClinVar dbSNP gnomAD v4
19g.38565198G>CCA507355475RYR1c.1274G>C
c.1256G>C
c.12864G>C (p.Thr4288=)
c.12849G>C (p.Thr4283=)
c.12846G>C (p.Thr4282=)
c.6233G>C
c.12831G>C (p.Thr4277=)
c.12861G>C (p.Thr4287=)
19g.38565198G=CA2335084725RYR1c.1274G=
c.1256G=
c.12864G= (p.Thr4288=)
c.12849G= (p.Thr4283=)
c.12846G= (p.Thr4282=)
c.6233G=
c.12831G= (p.Thr4277=)
c.12861G= (p.Thr4287=)
19g.38565198G>TCA507355476RYR1c.1274G>T
c.1256G>T
c.12864G>T (p.Thr4288=)
c.12849G>T (p.Thr4283=)
c.12846G>T (p.Thr4282=)
c.6233G>T
c.12831G>T (p.Thr4277=)
c.12861G>T (p.Thr4287=)
gnomAD v4
19g.38565202_38565213delCA2576772098RYR1c.1278_1289del
c.1260_1271del
c.12868_12879del (p.Ala4290_Ala4293del)
c.12853_12864del (p.Ala4285_Ala4288del)
c.12850_12861del (p.Ala4284_Ala4287del)
c.6237_6248del
c.12835_12846del (p.Ala4279_Ala4282del)
c.12865_12876del (p.Ala4289_Ala4292del)
gnomAD v4
19g.38565199G>ACA405672373RYR1c.1275G>A
c.1257G>A
c.12865G>A (p.Ala4289Thr)
c.12850G>A (p.Ala4284Thr)
c.12847G>A (p.Ala4283Thr)
c.6234G>A
c.12832G>A (p.Ala4278Thr)
c.12862G>A (p.Ala4288Thr)
gnomAD v4
19g.38565199G>CCA405672377RYR1c.1275G>C
c.1257G>C
c.12865G>C (p.Ala4289Pro)
c.12850G>C (p.Ala4284Pro)
c.12847G>C (p.Ala4283Pro)
c.6234G>C
c.12832G>C (p.Ala4278Pro)
c.12862G>C (p.Ala4288Pro)
19g.38565199G>TCA405672375RYR1c.1275G>T
c.1257G>T
c.12865G>T (p.Ala4289Ser)
c.12850G>T (p.Ala4284Ser)
c.12847G>T (p.Ala4283Ser)
c.6234G>T
c.12832G>T (p.Ala4278Ser)
c.12862G>T (p.Ala4288Ser)
19g.38565200C>ACA405672380RYR1c.1276C>A
c.1258C>A
c.12866C>A (p.Ala4289Glu)
c.12851C>A (p.Ala4284Glu)
c.12848C>A (p.Ala4283Glu)
c.6235C>A
c.12833C>A (p.Ala4278Glu)
c.12863C>A (p.Ala4288Glu)
gnomAD v4
19g.38565200C>GCA405672382RYR1c.1276C>G
c.1258C>G
c.12866C>G (p.Ala4289Gly)
c.12851C>G (p.Ala4284Gly)
c.12848C>G (p.Ala4283Gly)
c.6235C>G
c.12833C>G (p.Ala4278Gly)
c.12863C>G (p.Ala4288Gly)
gnomAD v4
19g.38565200C>TCA405672383RYR1c.1276C>T
c.1258C>T
c.12866C>T (p.Ala4289Val)
c.12851C>T (p.Ala4284Val)
c.12848C>T (p.Ala4283Val)
c.6235C>T
c.12833C>T (p.Ala4278Val)
c.12863C>T (p.Ala4288Val)
gnomAD v4
19g.38565200_38565209delinsCGGCGGCGGGCA2335084726RYR1c.1276_1285delinsCGGCGGCGGG
c.1258_1267delinsCGGCGGCGGG
c.12866_12875delinsCGGCGGCGGG (p.Ala4289=)
c.12851_12860delinsCGGCGGCGGG (p.Ala4284=)
c.12848_12857delinsCGGCGGCGGG (p.Ala4283=)
c.6235_6244delinsCGGCGGCGGG
c.12833_12842delinsCGGCGGCGGG (p.Ala4278=)
c.12863_12872delinsCGGCGGCGGG (p.Ala4288=)
19g.38565201G>ACA507355481RYR1c.1277G>A
c.1259G>A
c.12867G>A (p.Ala4289=)
c.12852G>A (p.Ala4284=)
c.12849G>A (p.Ala4283=)
c.6236G>A
c.12834G>A (p.Ala4278=)
c.12864G>A (p.Ala4288=)
ClinVar dbSNP gnomAD v4
19g.38565201G>CCA507355482RYR1c.1277G>C
c.1259G>C
c.12867G>C (p.Ala4289=)
c.12852G>C (p.Ala4284=)
c.12849G>C (p.Ala4283=)
c.6236G>C
c.12834G>C (p.Ala4278=)
c.12864G>C (p.Ala4288=)
19g.38565201G=CA2335084727RYR1c.1277G=
c.1259G=
c.12867G= (p.Ala4289=)
c.12852G= (p.Ala4284=)
c.12849G= (p.Ala4283=)
c.6236G=
c.12834G= (p.Ala4278=)
c.12864G= (p.Ala4288=)
19g.38565201G>TCA507355485RYR1c.1277G>T
c.1259G>T
c.12867G>T (p.Ala4289=)
c.12852G>T (p.Ala4284=)
c.12849G>T (p.Ala4283=)
c.6236G>T
c.12834G>T (p.Ala4278=)
c.12864G>T (p.Ala4288=)
gnomAD v4
19g.38565205_38565213delCA882058564RYR1c.1281_1289del
c.1263_1271del
c.12871_12879del (p.Ala4291_Ala4293del)
c.12856_12864del (p.Ala4286_Ala4288del)
c.12853_12861del (p.Ala4285_Ala4287del)
c.6240_6248del
c.12838_12846del (p.Ala4280_Ala4282del)
c.12868_12876del (p.Ala4290_Ala4292del)
dbSNP gnomAD v3 gnomAD v4
19g.38565202G>ACA405672385RYR1c.1278G>A
c.1260G>A
c.12868G>A (p.Ala4290Thr)
c.12853G>A (p.Ala4285Thr)
c.12850G>A (p.Ala4284Thr)
c.6237G>A
c.12835G>A (p.Ala4279Thr)
c.12865G>A (p.Ala4289Thr)
gnomAD v4
19g.38565202G>CCA405672386RYR1c.1278G>C
c.1260G>C
c.12868G>C (p.Ala4290Pro)
c.12853G>C (p.Ala4285Pro)
c.12850G>C (p.Ala4284Pro)
c.6237G>C
c.12835G>C (p.Ala4279Pro)
c.12865G>C (p.Ala4289Pro)
gnomAD v4
19g.38565202G=CA2335084728RYR1c.1278G=
c.1260G=
c.12868G= (p.Ala4290=)
c.12853G= (p.Ala4285=)
c.12850G= (p.Ala4284=)
c.6237G=
c.12835G= (p.Ala4279=)
c.12865G= (p.Ala4289=)
19g.38565202G>TCA405672389RYR1c.1278G>T
c.1260G>T
c.12868G>T (p.Ala4290Ser)
c.12853G>T (p.Ala4285Ser)
c.12850G>T (p.Ala4284Ser)
c.6237G>T
c.12835G>T (p.Ala4279Ser)
c.12865G>T (p.Ala4289Ser)
dbSNP
19g.38565202_38565214delinsGCGGCGGGGGCGACA2335084729RYR1c.1278_1290delinsGCGGCGGGGGCGA
c.1260_1272delinsGCGGCGGGGGCGA
c.12868_12880delinsGCGGCGGGGGCGA (p.Ala4290=)
c.12853_12865delinsGCGGCGGGGGCGA (p.Ala4285=)
c.12850_12862delinsGCGGCGGGGGCGA (p.Ala4284=)
c.6237_6249delinsGCGGCGGGGGCGA
c.12835_12847delinsGCGGCGGGGGCGA (p.Ala4279=)
c.12865_12877delinsGCGGCGGGGGCGA (p.Ala4289=)
19g.38565203C>ACA405672391RYR1c.1279C>A
c.1261C>A
c.12869C>A (p.Ala4290Glu)
c.12854C>A (p.Ala4285Glu)
c.12851C>A (p.Ala4284Glu)
c.6238C>A
c.12836C>A (p.Ala4279Glu)
c.12866C>A (p.Ala4289Glu)
19g.38565203C=CA2335084730RYR1c.1279C=
c.1261C=
c.12869C= (p.Ala4290=)
c.12854C= (p.Ala4285=)
c.12851C= (p.Ala4284=)
c.6238C=
c.12836C= (p.Ala4279=)
c.12866C= (p.Ala4289=)
19g.38565203C>GCA405672392RYR1c.1279C>G
c.1261C>G
c.12869C>G (p.Ala4290Gly)
c.12854C>G (p.Ala4285Gly)
c.12851C>G (p.Ala4284Gly)
c.6238C>G
c.12836C>G (p.Ala4279Gly)
c.12866C>G (p.Ala4289Gly)
gnomAD v4
19g.38565203C>TCA059496RYR1c.1279C>T
c.1261C>T
c.12869C>T (p.Ala4290Val)
c.12854C>T (p.Ala4285Val)
c.12851C>T (p.Ala4284Val)
c.6238C>T
c.12836C>T (p.Ala4279Val)
c.12866C>T (p.Ala4289Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38565203_38565204insCACCA2573332874RYR1c.1279_1280insCAC
c.1261_1262insCAC
c.12869_12870insCAC (p.Ala4290_Ala4291insThr)
c.12854_12855insCAC (p.Ala4285_Ala4286insThr)
c.12851_12852insCAC (p.Ala4284_Ala4285insThr)
c.6238_6239insCAC
c.12836_12837insCAC (p.Ala4279_Ala4280insThr)
c.12866_12867insCAC (p.Ala4289_Ala4290insThr)
gnomAD v4
19g.38565208_38565219dupCA995731518RYR1c.1284_1295dup
c.1266_1277dup
c.12874_12885dup (p.Ala4295_Arg4296insGlyAlaThrAla)
c.12859_12870dup (p.Ala4290_Arg4291insGlyAlaThrAla)
c.12856_12867dup (p.Ala4289_Arg4290insGlyAlaThrAla)
c.6243_6254dup
c.12841_12852dup (p.Ala4284_Arg4285insGlyAlaThrAla)
c.12871_12882dup (p.Ala4294_Arg4295insGlyAlaThrAla)
dbSNP gnomAD v3 gnomAD v4
19g.38565208_38565219delCA882058575RYR1c.1284_1295del
c.1266_1277del
c.12874_12885del (p.Gly4292_Ala4295del)
c.12859_12870del (p.Gly4287_Ala4290del)
c.12856_12867del (p.Gly4286_Ala4289del)
c.6243_6254del
c.12841_12852del (p.Gly4281_Ala4284del)
c.12871_12882del (p.Gly4291_Ala4294del)
dbSNP gnomAD v3 gnomAD v4
19g.38565204G>ACA308109310RYR1c.1280G>A
c.1262G>A
c.12870G>A (p.Ala4290=)
c.12855G>A (p.Ala4285=)
c.12852G>A (p.Ala4284=)
c.6239G>A
c.12837G>A (p.Ala4279=)
c.12867G>A (p.Ala4289=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565204G>CCA507355491RYR1c.1280G>C
c.1262G>C
c.12870G>C (p.Ala4290=)
c.12855G>C (p.Ala4285=)
c.12852G>C (p.Ala4284=)
c.6239G>C
c.12837G>C (p.Ala4279=)
c.12867G>C (p.Ala4289=)
gnomAD v3 gnomAD v4
19g.38565204G=CA2335084731RYR1c.1280G=
c.1262G=
c.12870G= (p.Ala4290=)
c.12855G= (p.Ala4285=)
c.12852G= (p.Ala4284=)
c.6239G=
c.12837G= (p.Ala4279=)
c.12867G= (p.Ala4289=)
19g.38565204G>TCA507355492RYR1c.1280G>T
c.1262G>T
c.12870G>T (p.Ala4290=)
c.12855G>T (p.Ala4285=)
c.12852G>T (p.Ala4284=)
c.6239G>T
c.12837G>T (p.Ala4279=)
c.12867G>T (p.Ala4289=)
dbSNP gnomAD v4
19g.38565206_38565209delCA2576772099RYR1c.1282_1285del
c.1264_1267del
c.12872_12875del (p.Ala4291GlyfsTer?)
c.12857_12860del (p.Ala4286GlyfsTer?)
c.12854_12857del (p.Ala4285GlyfsTer?)
c.6241_6244del
c.12839_12842del (p.Ala4280GlyfsTer?)
c.12869_12872del (p.Ala4290GlyfsTer?)
19g.38565208_38565213dupCA2573156318RYR1c.1284_1289dup
c.1266_1271dup
c.12874_12879dup (p.Ala4293_Thr4294insGlyAla)
c.12859_12864dup (p.Ala4288_Thr4289insGlyAla)
c.12856_12861dup (p.Ala4287_Thr4288insGlyAla)
c.6243_6248dup
c.12841_12846dup (p.Ala4282_Thr4283insGlyAla)
c.12871_12876dup (p.Ala4292_Thr4293insGlyAla)
ClinVar dbSNP
19g.38565205G>ACA405672396RYR1c.1281G>A
c.1263G>A
c.12871G>A (p.Ala4291Thr)
c.12856G>A (p.Ala4286Thr)
c.12853G>A (p.Ala4285Thr)
c.6240G>A
c.12838G>A (p.Ala4280Thr)
c.12868G>A (p.Ala4290Thr)
dbSNP gnomAD v3 gnomAD v4
19g.38565205G>CCA405672399RYR1c.1281G>C
c.1263G>C
c.12871G>C (p.Ala4291Pro)
c.12856G>C (p.Ala4286Pro)
c.12853G>C (p.Ala4285Pro)
c.6240G>C
c.12838G>C (p.Ala4280Pro)
c.12868G>C (p.Ala4290Pro)
19g.38565205G>TCA405672400RYR1c.1281G>T
c.1263G>T
c.12871G>T (p.Ala4291Ser)
c.12856G>T (p.Ala4286Ser)
c.12853G>T (p.Ala4285Ser)
c.6240G>T
c.12838G>T (p.Ala4280Ser)
c.12868G>T (p.Ala4290Ser)
gnomAD v4
19g.38565206C>ACA405672407RYR1c.1282C>A
c.1264C>A
c.12872C>A (p.Ala4291Glu)
c.12857C>A (p.Ala4286Glu)
c.12854C>A (p.Ala4285Glu)
c.6241C>A
c.12839C>A (p.Ala4280Glu)
c.12869C>A (p.Ala4290Glu)
gnomAD v4
19g.38565206C>GCA405672403RYR1c.1282C>G
c.1264C>G
c.12872C>G (p.Ala4291Gly)
c.12857C>G (p.Ala4286Gly)
c.12854C>G (p.Ala4285Gly)
c.6241C>G
c.12839C>G (p.Ala4280Gly)
c.12869C>G (p.Ala4290Gly)
gnomAD v4
19g.38565206C>TCA080773RYR1c.1282C>T
c.1264C>T
c.12872C>T (p.Ala4291Val)
c.12857C>T (p.Ala4286Val)
c.12854C>T (p.Ala4285Val)
c.6241C>T
c.12839C>T (p.Ala4280Val)
c.12869C>T (p.Ala4290Val)
gnomAD v4
19g.38565206_38565207delinsCGCA2335084732RYR1c.1282_1283delinsCG
c.1264_1265delinsCG
c.12872_12873delinsCG (p.Ala4291=)
c.12857_12858delinsCG (p.Ala4286=)
c.12854_12855delinsCG (p.Ala4285=)
c.6241_6242delinsCG
c.12839_12840delinsCG (p.Ala4280=)
c.12869_12870delinsCG (p.Ala4290=)
19g.38565207G>ACA507355497RYR1c.1283G>A
c.1265G>A
c.12873G>A (p.Ala4291=)
c.12858G>A (p.Ala4286=)
c.12855G>A (p.Ala4285=)
c.6242G>A
c.12840G>A (p.Ala4280=)
c.12870G>A (p.Ala4290=)
ClinVar
19g.38565207G>CCA507355499RYR1c.1283G>C
c.1265G>C
c.12873G>C (p.Ala4291=)
c.12858G>C (p.Ala4286=)
c.12855G>C (p.Ala4285=)
c.6242G>C
c.12840G>C (p.Ala4280=)
c.12870G>C (p.Ala4290=)
19g.38565207G=CA2335084734RYR1c.1283G=
c.1265G=
c.12873G= (p.Ala4291=)
c.12858G= (p.Ala4286=)
c.12855G= (p.Ala4285=)
c.6242G=
c.12840G= (p.Ala4280=)
c.12870G= (p.Ala4290=)
19g.38565207G>TCA507355494RYR1c.1283G>T
c.1265G>T
c.12873G>T (p.Ala4291=)
c.12858G>T (p.Ala4286=)
c.12855G>T (p.Ala4285=)
c.6242G>T
c.12840G>T (p.Ala4280=)
c.12870G>T (p.Ala4290=)
dbSNP gnomAD v4
19g.38565211dupCA2584909128RYR1c.1287dup
c.1269dup
c.12877dup (p.Ala4293GlyfsTer?)
c.12862dup (p.Ala4288GlyfsTer?)
c.12859dup (p.Ala4287GlyfsTer?)
c.6246dup
c.12844dup (p.Ala4282GlyfsTer?)
c.12874dup (p.Ala4292GlyfsTer?)
gnomAD v4
19g.38565211delCA2335084733RYR1c.1287del
c.1269del
c.12877del (p.Ala4293ArgfsTer?)
c.12862del (p.Ala4288ArgfsTer?)
c.12859del (p.Ala4287ArgfsTer?)
c.6246del
c.12844del (p.Ala4282ArgfsTer?)
c.12874del (p.Ala4292ArgfsTer?)
ClinVar dbSNP gnomAD v4
19g.38565208G>ACA405672408RYR1c.1284G>A
c.1266G>A
c.12874G>A (p.Gly4292Arg)
c.12859G>A (p.Gly4287Arg)
c.12856G>A (p.Gly4286Arg)
c.6243G>A
c.12841G>A (p.Gly4281Arg)
c.12871G>A (p.Gly4291Arg)
gnomAD v4
19g.38565208G>CCA405672410RYR1c.1284G>C
c.1266G>C
c.12874G>C (p.Gly4292Arg)
c.12859G>C (p.Gly4287Arg)
c.12856G>C (p.Gly4286Arg)
c.6243G>C
c.12841G>C (p.Gly4281Arg)
c.12871G>C (p.Gly4291Arg)
19g.38565208G=CA2335084735RYR1c.1284G=
c.1266G=
c.12874G= (p.Gly4292=)
c.12859G= (p.Gly4287=)
c.12856G= (p.Gly4286=)
c.6243G=
c.12841G= (p.Gly4281=)
c.12871G= (p.Gly4291=)
19g.38565208G>TCA405672411RYR1c.1284G>T
c.1266G>T
c.12874G>T (p.Gly4292Trp)
c.12859G>T (p.Gly4287Trp)
c.12856G>T (p.Gly4286Trp)
c.6243G>T
c.12841G>T (p.Gly4281Trp)
c.12871G>T (p.Gly4291Trp)
19g.38565209G>ACA405672413RYR1c.1285G>A
c.1267G>A
c.12875G>A (p.Gly4292Glu)
c.12860G>A (p.Gly4287Glu)
c.12857G>A (p.Gly4286Glu)
c.6244G>A
c.12842G>A (p.Gly4281Glu)
c.12872G>A (p.Gly4291Glu)
dbSNP
19g.38565209G>CCA405672416RYR1c.1285G>C
c.1267G>C
c.12875G>C (p.Gly4292Ala)
c.12860G>C (p.Gly4287Ala)
c.12857G>C (p.Gly4286Ala)
c.6244G>C
c.12842G>C (p.Gly4281Ala)
c.12872G>C (p.Gly4291Ala)
gnomAD v4
19g.38565209G=CA2335084737RYR1c.1285G=
c.1267G=
c.12875G= (p.Gly4292=)
c.12860G= (p.Gly4287=)
c.12857G= (p.Gly4286=)
c.6244G=
c.12842G= (p.Gly4281=)
c.12872G= (p.Gly4291=)
19g.38565209G>TCA405672418RYR1c.1285G>T
c.1267G>T
c.12875G>T (p.Gly4292Val)
c.12860G>T (p.Gly4287Val)
c.12857G>T (p.Gly4286Val)
c.6244G>T
c.12842G>T (p.Gly4281Val)
c.12872G>T (p.Gly4291Val)
gnomAD v4
19g.38565212_38565223dupCA2335084736RYR1c.1288_1299dup
c.1270_1281dup
c.12878_12889dup (p.Arg4296_Val4297insAlaThrAlaArg)
c.12863_12874dup (p.Arg4291_Val4292insAlaThrAlaArg)
c.12860_12871dup (p.Arg4290_Val4291insAlaThrAlaArg)
c.6247_6258dup
c.12845_12856dup (p.Arg4285_Val4286insAlaThrAlaArg)
c.12875_12886dup (p.Arg4295_Val4296insAlaThrAlaArg)
dbSNP gnomAD v4
19g.38565210G>ACA507355503RYR1c.1286G>A
c.1268G>A
c.12876G>A (p.Gly4292=)
c.12861G>A (p.Gly4287=)
c.12858G>A (p.Gly4286=)
c.6245G>A
c.12843G>A (p.Gly4281=)
c.12873G>A (p.Gly4291=)
19g.38565210G>CCA507355501RYR1c.1286G>C
c.1268G>C
c.12876G>C (p.Gly4292=)
c.12861G>C (p.Gly4287=)
c.12858G>C (p.Gly4286=)
c.6245G>C
c.12843G>C (p.Gly4281=)
c.12873G>C (p.Gly4291=)
ClinVar dbSNP
19g.38565210G=CA2335084738RYR1c.1286G=
c.1268G=
c.12876G= (p.Gly4292=)
c.12861G= (p.Gly4287=)
c.12858G= (p.Gly4286=)
c.6245G=
c.12843G= (p.Gly4281=)
c.12873G= (p.Gly4291=)
19g.38565210G>TCA507355502RYR1c.1286G>T
c.1268G>T
c.12876G>T (p.Gly4292=)
c.12861G>T (p.Gly4287=)
c.12858G>T (p.Gly4286=)
c.6245G>T
c.12843G>T (p.Gly4281=)
c.12873G>T (p.Gly4291=)
gnomAD v4
19g.38565211G>ACA405672421RYR1c.1287G>A
c.1269G>A
c.12877G>A (p.Ala4293Thr)
c.12862G>A (p.Ala4288Thr)
c.12859G>A (p.Ala4287Thr)
c.6246G>A
c.12844G>A (p.Ala4282Thr)
c.12874G>A (p.Ala4292Thr)
gnomAD v4
19g.38565211G>CCA405672423RYR1c.1287G>C
c.1269G>C
c.12877G>C (p.Ala4293Pro)
c.12862G>C (p.Ala4288Pro)
c.12859G>C (p.Ala4287Pro)
c.6246G>C
c.12844G>C (p.Ala4282Pro)
c.12874G>C (p.Ala4292Pro)
19g.38565211G>TCA405672424RYR1c.1287G>T
c.1269G>T
c.12877G>T (p.Ala4293Ser)
c.12862G>T (p.Ala4288Ser)
c.12859G>T (p.Ala4287Ser)
c.6246G>T
c.12844G>T (p.Ala4282Ser)
c.12874G>T (p.Ala4292Ser)
gnomAD v4
19g.38565212C>ACA405672427RYR1c.1288C>A
c.1270C>A
c.12878C>A (p.Ala4293Glu)
c.12863C>A (p.Ala4288Glu)
c.12860C>A (p.Ala4287Glu)
c.6247C>A
c.12845C>A (p.Ala4282Glu)
c.12875C>A (p.Ala4292Glu)
ClinVar dbSNP gnomAD v4
19g.38565212C=CA2335084739RYR1c.1288C=
c.1270C=
c.12878C= (p.Ala4293=)
c.12863C= (p.Ala4288=)
c.12860C= (p.Ala4287=)
c.6247C=
c.12845C= (p.Ala4282=)
c.12875C= (p.Ala4292=)
19g.38565212C>GCA405672430RYR1c.1288C>G
c.1270C>G
c.12878C>G (p.Ala4293Gly)
c.12863C>G (p.Ala4288Gly)
c.12860C>G (p.Ala4287Gly)
c.6247C>G
c.12845C>G (p.Ala4282Gly)
c.12875C>G (p.Ala4292Gly)
19g.38565212C>TCA405672432RYR1c.1288C>T
c.1270C>T
c.12878C>T (p.Ala4293Val)
c.12863C>T (p.Ala4288Val)
c.12860C>T (p.Ala4287Val)
c.6247C>T
c.12845C>T (p.Ala4282Val)
c.12875C>T (p.Ala4292Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565213G>ACA507355504RYR1c.1289G>A
c.1271G>A
c.12879G>A (p.Ala4293=)
c.12864G>A (p.Ala4288=)
c.12861G>A (p.Ala4287=)
c.6248G>A
c.12846G>A (p.Ala4282=)
c.12876G>A (p.Ala4292=)
gnomAD v4
19g.38565213G>CCA024015RYR1c.1289G>C
c.1271G>C
c.12879G>C (p.Ala4293=)
c.12864G>C (p.Ala4288=)
c.12861G>C (p.Ala4287=)
c.6248G>C
c.12846G>C (p.Ala4282=)
c.12876G>C (p.Ala4292=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38565213G=CA2335084740RYR1c.1289G=
c.1271G=
c.12879G= (p.Ala4293=)
c.12864G= (p.Ala4288=)
c.12861G= (p.Ala4287=)
c.6248G=
c.12846G= (p.Ala4282=)
c.12876G= (p.Ala4292=)
19g.38565213G>TCA507355505RYR1c.1289G>T
c.1271G>T
c.12879G>T (p.Ala4293=)
c.12864G>T (p.Ala4288=)
c.12861G>T (p.Ala4287=)
c.6248G>T
c.12846G>T (p.Ala4282=)
c.12876G>T (p.Ala4292=)
19g.38565214A=CA2335084741RYR1c.1290A=
c.1272A=
c.12880A= (p.Thr4294=)
c.12865A= (p.Thr4289=)
c.12862A= (p.Thr4288=)
c.6249A=
c.12847A= (p.Thr4283=)
c.12877A= (p.Thr4293=)
19g.38565214A>CCA405672433RYR1c.1290A>C
c.1272A>C
c.12880A>C (p.Thr4294Pro)
c.12865A>C (p.Thr4289Pro)
c.12862A>C (p.Thr4288Pro)
c.6249A>C
c.12847A>C (p.Thr4283Pro)
c.12877A>C (p.Thr4293Pro)
19g.38565214A>GCA308109322RYR1c.1290A>G
c.1272A>G
c.12880A>G (p.Thr4294Ala)
c.12865A>G (p.Thr4289Ala)
c.12862A>G (p.Thr4288Ala)
c.6249A>G
c.12847A>G (p.Thr4283Ala)
c.12877A>G (p.Thr4293Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565214A>TCA405672434RYR1c.1290A>T
c.1272A>T
c.12880A>T (p.Thr4294Ser)
c.12865A>T (p.Thr4289Ser)
c.12862A>T (p.Thr4288Ser)
c.6249A>T
c.12847A>T (p.Thr4283Ser)
c.12877A>T (p.Thr4293Ser)
19g.38565215C>ACA405672435RYR1c.1291C>A
c.1273C>A
c.12881C>A (p.Thr4294Lys)
c.12866C>A (p.Thr4289Lys)
c.12863C>A (p.Thr4288Lys)
c.6250C>A
c.12848C>A (p.Thr4283Lys)
c.12878C>A (p.Thr4293Lys)
dbSNP
19g.38565215C=CA2335084742RYR1c.1291C=
c.1273C=
c.12881C= (p.Thr4294=)
c.12866C= (p.Thr4289=)
c.12863C= (p.Thr4288=)
c.6250C=
c.12848C= (p.Thr4283=)
c.12878C= (p.Thr4293=)
19g.38565215C>GCA405672436RYR1c.1291C>G
c.1273C>G
c.12881C>G (p.Thr4294Arg)
c.12866C>G (p.Thr4289Arg)
c.12863C>G (p.Thr4288Arg)
c.6250C>G
c.12848C>G (p.Thr4283Arg)
c.12878C>G (p.Thr4293Arg)
19g.38565215C>TCA024017RYR1c.1291C>T
c.1273C>T
c.12881C>T (p.Thr4294Met)
c.12866C>T (p.Thr4289Met)
c.12863C>T (p.Thr4288Met)
c.6250C>T
c.12848C>T (p.Thr4283Met)
c.12878C>T (p.Thr4293Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565216_38565217insCCGCA920105907RYR1c.1292_1293insCCG
c.1274_1275insCCG
c.12882_12883insCCG (p.Thr4294_Ala4295insPro)
c.12867_12868insCCG (p.Thr4289_Ala4290insPro)
c.12864_12865insCCG (p.Thr4288_Ala4289insPro)
c.6251_6252insCCG
c.12849_12850insCCG (p.Thr4283_Ala4284insPro)
c.12879_12880insCCG (p.Thr4293_Ala4294insPro)
dbSNP
19g.38565216G>ACA507355508RYR1c.1292G>A
c.1274G>A
c.12882G>A (p.Thr4294=)
c.12867G>A (p.Thr4289=)
c.12864G>A (p.Thr4288=)
c.6251G>A
c.12849G>A (p.Thr4283=)
c.12879G>A (p.Thr4293=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565216G>CCA080774RYR1c.1292G>C
c.1274G>C
c.12882G>C (p.Thr4294=)
c.12867G>C (p.Thr4289=)
c.12864G>C (p.Thr4288=)
c.6251G>C
c.12849G>C (p.Thr4283=)
c.12879G>C (p.Thr4293=)
19g.38565216G=CA2335084743RYR1c.1292G=
c.1274G=
c.12882G= (p.Thr4294=)
c.12867G= (p.Thr4289=)
c.12864G= (p.Thr4288=)
c.6251G=
c.12849G= (p.Thr4283=)
c.12879G= (p.Thr4293=)
19g.38565216G>TCA507355509RYR1c.1292G>T
c.1274G>T
c.12882G>T (p.Thr4294=)
c.12867G>T (p.Thr4289=)
c.12864G>T (p.Thr4288=)
c.6251G>T
c.12849G>T (p.Thr4283=)
c.12879G>T (p.Thr4293=)
19g.38565217G>ACA405672437RYR1c.1293G>A
c.1275G>A
c.12883G>A (p.Ala4295Thr)
c.12868G>A (p.Ala4290Thr)
c.12865G>A (p.Ala4289Thr)
c.6252G>A
c.12850G>A (p.Ala4284Thr)
c.12880G>A (p.Ala4294Thr)
gnomAD v4
19g.38565217G>CCA405672439RYR1c.1293G>C
c.1275G>C
c.12883G>C (p.Ala4295Pro)
c.12868G>C (p.Ala4290Pro)
c.12865G>C (p.Ala4289Pro)
c.6252G>C
c.12850G>C (p.Ala4284Pro)
c.12880G>C (p.Ala4294Pro)
19g.38565217G>TCA405672442RYR1c.1293G>T
c.1275G>T
c.12883G>T (p.Ala4295Ser)
c.12868G>T (p.Ala4290Ser)
c.12865G>T (p.Ala4289Ser)
c.6252G>T
c.12850G>T (p.Ala4284Ser)
c.12880G>T (p.Ala4294Ser)
19g.38565218C>ACA405672443RYR1c.1294C>A
c.1276C>A
c.12884C>A (p.Ala4295Glu)
c.12869C>A (p.Ala4290Glu)
c.12866C>A (p.Ala4289Glu)
c.6253C>A
c.12851C>A (p.Ala4284Glu)
c.12881C>A (p.Ala4294Glu)
19g.38565218C=CA2335084744RYR1c.1294C=
c.1276C=
c.12884C= (p.Ala4295=)
c.12869C= (p.Ala4290=)
c.12866C= (p.Ala4289=)
c.6253C=
c.12851C= (p.Ala4284=)
c.12881C= (p.Ala4294=)
19g.38565218C>GCA405672445RYR1c.1294C>G
c.1276C>G
c.12884C>G (p.Ala4295Gly)
c.12869C>G (p.Ala4290Gly)
c.12866C>G (p.Ala4289Gly)
c.6253C>G
c.12851C>G (p.Ala4284Gly)
c.12881C>G (p.Ala4294Gly)
dbSNP gnomAD v3 gnomAD v4
19g.38565218C>TCA024018RYR1c.1294C>T
c.1276C>T
c.12884C>T (p.Ala4295Val)
c.12869C>T (p.Ala4290Val)
c.12866C>T (p.Ala4289Val)
c.6253C>T
c.12851C>T (p.Ala4284Val)
c.12881C>T (p.Ala4294Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565219G>ACA507355513RYR1c.1295G>A
c.1277G>A
c.12885G>A (p.Ala4295=)
c.12870G>A (p.Ala4290=)
c.12867G>A (p.Ala4289=)
c.6254G>A
c.12852G>A (p.Ala4284=)
c.12882G>A (p.Ala4294=)
ClinVar dbSNP gnomAD v4
19g.38565219G>CCA507355514RYR1c.1295G>C
c.1277G>C
c.12885G>C (p.Ala4295=)
c.12870G>C (p.Ala4290=)
c.12867G>C (p.Ala4289=)
c.6254G>C
c.12852G>C (p.Ala4284=)
c.12882G>C (p.Ala4294=)
19g.38565219G=CA2335084745RYR1c.1295G=
c.1277G=
c.12885G= (p.Ala4295=)
c.12870G= (p.Ala4290=)
c.12867G= (p.Ala4289=)
c.6254G=
c.12852G= (p.Ala4284=)
c.12882G= (p.Ala4294=)
19g.38565219G>TCA507355515RYR1c.1295G>T
c.1277G>T
c.12885G>T (p.Ala4295=)
c.12870G>T (p.Ala4290=)
c.12867G>T (p.Ala4289=)
c.6254G>T
c.12852G>T (p.Ala4284=)
c.12882G>T (p.Ala4294=)
gnomAD v4
19g.38565220C>ACA507355517RYR1c.1296C>A
c.1278C>A
c.12886C>A (p.Arg4296=)
c.12871C>A (p.Arg4291=)
c.12868C>A (p.Arg4290=)
c.6255C>A
c.12853C>A (p.Arg4285=)
c.12883C>A (p.Arg4295=)
gnomAD v4
19g.38565220C=CA2335084746RYR1c.1296C=
c.1278C=
c.12886C= (p.Arg4296=)
c.12871C= (p.Arg4291=)
c.12868C= (p.Arg4290=)
c.6255C=
c.12853C= (p.Arg4285=)
c.12883C= (p.Arg4295=)
19g.38565220C>GCA405672449RYR1c.1296C>G
c.1278C>G
c.12886C>G (p.Arg4296Gly)
c.12871C>G (p.Arg4291Gly)
c.12868C>G (p.Arg4290Gly)
c.6255C>G
c.12853C>G (p.Arg4285Gly)
c.12883C>G (p.Arg4295Gly)
gnomAD v4
19g.38565220C>TCA308109332RYR1c.1296C>T
c.1278C>T
c.12886C>T (p.Arg4296Trp)
c.12871C>T (p.Arg4291Trp)
c.12868C>T (p.Arg4290Trp)
c.6255C>T
c.12853C>T (p.Arg4285Trp)
c.12883C>T (p.Arg4295Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565224_38565244delCA2580097181RYR1c.1300_1320del
c.1282_1302del
c.12890_12910del (p.Val4297_Arg4303del)
c.12875_12895del (p.Val4292_Arg4298del)
c.12872_12892del (p.Val4291_Arg4297del)
c.12857_12877del (p.Val4286_Arg4292del)
c.12887_12907del (p.Val4296_Arg4302del)
ClinVar gnomAD v4
19g.38565221G>ACA405672455RYR1c.1297G>A
c.1279G>A
c.12887G>A (p.Arg4296Gln)
c.12872G>A (p.Arg4291Gln)
c.12869G>A (p.Arg4290Gln)
c.6256G>A
c.12854G>A (p.Arg4285Gln)
c.12884G>A (p.Arg4295Gln)
dbSNP
19g.38565221G>CCA405672454RYR1c.1297G>C
c.1279G>C
c.12887G>C (p.Arg4296Pro)
c.12872G>C (p.Arg4291Pro)
c.12869G>C (p.Arg4290Pro)
c.6256G>C
c.12854G>C (p.Arg4285Pro)
c.12884G>C (p.Arg4295Pro)
ClinVar gnomAD v4
19g.38565221G=CA2335084747RYR1c.1297G=
c.1279G=
c.12887G= (p.Arg4296=)
c.12872G= (p.Arg4291=)
c.12869G= (p.Arg4290=)
c.6256G=
c.12854G= (p.Arg4285=)
c.12884G= (p.Arg4295=)
19g.38565221G>TCA405672452RYR1c.1297G>T
c.1279G>T
c.12887G>T (p.Arg4296Leu)
c.12872G>T (p.Arg4291Leu)
c.12869G>T (p.Arg4290Leu)
c.6256G>T
c.12854G>T (p.Arg4285Leu)
c.12884G>T (p.Arg4295Leu)
dbSNP gnomAD v4
19g.38565222G>ACA507355519RYR1c.1298G>A
c.1280G>A
c.12888G>A (p.Arg4296=)
c.12873G>A (p.Arg4291=)
c.12870G>A (p.Arg4290=)
c.6257G>A
c.12855G>A (p.Arg4285=)
c.12885G>A (p.Arg4295=)
ClinVar dbSNP gnomAD v4
19g.38565222G>CCA10648658RYR1c.1298G>C
c.1280G>C
c.12888G>C (p.Arg4296=)
c.12873G>C (p.Arg4291=)
c.12870G>C (p.Arg4290=)
c.6257G>C
c.12855G>C (p.Arg4285=)
c.12885G>C (p.Arg4295=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565222G=CA2335084748RYR1c.1298G=
c.1280G=
c.12888G= (p.Arg4296=)
c.12873G= (p.Arg4291=)
c.12870G= (p.Arg4290=)
c.6257G=
c.12855G= (p.Arg4285=)
c.12885G= (p.Arg4295=)
19g.38565222G>TCA507355522RYR1c.1298G>T
c.1280G>T
c.12888G>T (p.Arg4296=)
c.12873G>T (p.Arg4291=)
c.12870G>T (p.Arg4290=)
c.6257G>T
c.12855G>T (p.Arg4285=)
c.12885G>T (p.Arg4295=)
gnomAD v4
19g.38565223G>ACA405672458RYR1c.1299G>A
c.1281G>A
c.12889G>A (p.Val4297Ile)
c.12874G>A (p.Val4292Ile)
c.12871G>A (p.Val4291Ile)
c.6258G>A
c.12856G>A (p.Val4286Ile)
c.12886G>A (p.Val4296Ile)
gnomAD v4
19g.38565223G>CCA405672459RYR1c.1299G>C
c.1281G>C
c.12889G>C (p.Val4297Leu)
c.12874G>C (p.Val4292Leu)
c.12871G>C (p.Val4291Leu)
c.6258G>C
c.12856G>C (p.Val4286Leu)
c.12886G>C (p.Val4296Leu)
ClinVar dbSNP gnomAD v4
19g.38565223G=CA2335084749RYR1c.1299G=
c.1281G=
c.12889G= (p.Val4297=)
c.12874G= (p.Val4292=)
c.12871G= (p.Val4291=)
c.6258G=
c.12856G= (p.Val4286=)
c.12886G= (p.Val4296=)
19g.38565223G>TCA405672460RYR1c.1299G>T
c.1281G>T
c.12889G>T (p.Val4297Phe)
c.12874G>T (p.Val4292Phe)
c.12871G>T (p.Val4291Phe)
c.6258G>T
c.12856G>T (p.Val4286Phe)
c.12886G>T (p.Val4296Phe)
19g.38565224T>ACA405672462RYR1c.1300T>A
c.1282T>A
c.12890T>A (p.Val4297Asp)
c.12875T>A (p.Val4292Asp)
c.12872T>A (p.Val4291Asp)
c.6259T>A
c.12857T>A (p.Val4286Asp)
c.12887T>A (p.Val4296Asp)
19g.38565224T>CCA405672466RYR1c.1300T>C
c.1282T>C
c.12890T>C (p.Val4297Ala)
c.12875T>C (p.Val4292Ala)
c.12872T>C (p.Val4291Ala)
c.6259T>C
c.12857T>C (p.Val4286Ala)
c.12887T>C (p.Val4296Ala)
gnomAD v4
19g.38565224T>GCA405672468RYR1c.1300T>G
c.1282T>G
c.12890T>G (p.Val4297Gly)
c.12875T>G (p.Val4292Gly)
c.12872T>G (p.Val4291Gly)
c.6259T>G
c.12857T>G (p.Val4286Gly)
c.12887T>G (p.Val4296Gly)
dbSNP
19g.38565225T>ACA507355524RYR1c.1301T>A
c.1283T>A
c.12891T>A (p.Val4297=)
c.12876T>A (p.Val4292=)
c.12873T>A (p.Val4291=)
c.6260T>A
c.12858T>A (p.Val4286=)
c.12888T>A (p.Val4296=)
19g.38565225T>CCA507355527RYR1c.1301T>C
c.1283T>C
c.12891T>C (p.Val4297=)
c.12876T>C (p.Val4292=)
c.12873T>C (p.Val4291=)
c.6260T>C
c.12858T>C (p.Val4286=)
c.12888T>C (p.Val4296=)
gnomAD v4
19g.38565225T>GCA507355529RYR1c.1301T>G
c.1283T>G
c.12891T>G (p.Val4297=)
c.12876T>G (p.Val4292=)
c.12873T>G (p.Val4291=)
c.6260T>G
c.12858T>G (p.Val4286=)
c.12888T>G (p.Val4296=)
ClinVar dbSNP gnomAD v4
19g.38565225_38565242delCA2584909129RYR1c.1301_1318del
c.1283_1300del
c.12891_12908del (p.Val4298_Arg4303del)
c.12876_12893del (p.Val4293_Arg4298del)
c.12873_12890del (p.Val4292_Arg4297del)
c.12858_12875del (p.Val4287_Arg4292del)
c.12888_12905del (p.Val4297_Arg4302del)
gnomAD v4
19g.38565226G>ACA405672469RYR1c.1302G>A
c.1284G>A
c.12892G>A (p.Val4298Met)
c.12877G>A (p.Val4293Met)
c.12874G>A (p.Val4292Met)
c.6261G>A
c.12859G>A (p.Val4287Met)
c.12889G>A (p.Val4297Met)
dbSNP
19g.38565226G>CCA405672470RYR1c.1302G>C
c.1284G>C
c.12892G>C (p.Val4298Leu)
c.12877G>C (p.Val4293Leu)
c.12874G>C (p.Val4292Leu)
c.6261G>C
c.12859G>C (p.Val4287Leu)
c.12889G>C (p.Val4297Leu)
19g.38565226G=CA2335084750RYR1c.1302G=
c.1284G=
c.12892G= (p.Val4298=)
c.12877G= (p.Val4293=)
c.12874G= (p.Val4292=)
c.6261G=
c.12859G= (p.Val4287=)
c.12889G= (p.Val4297=)
19g.38565226G>TCA405672473RYR1c.1302G>T
c.1284G>T
c.12892G>T (p.Val4298Leu)
c.12877G>T (p.Val4293Leu)
c.12874G>T (p.Val4292Leu)
c.6261G>T
c.12859G>T (p.Val4287Leu)
c.12889G>T (p.Val4297Leu)
ClinVar gnomAD v4
19g.38565227T>ACA405672474RYR1c.1303T>A
c.1285T>A
c.12893T>A (p.Val4298Glu)
c.12878T>A (p.Val4293Glu)
c.12875T>A (p.Val4292Glu)
c.6262T>A
c.12860T>A (p.Val4287Glu)
c.12890T>A (p.Val4297Glu)
19g.38565227T>CCA405672476RYR1c.1303T>C
c.1285T>C
c.12893T>C (p.Val4298Ala)
c.12878T>C (p.Val4293Ala)
c.12875T>C (p.Val4292Ala)
c.6262T>C
c.12860T>C (p.Val4287Ala)
c.12890T>C (p.Val4297Ala)
gnomAD v4
19g.38565227T>GCA405672478RYR1c.1303T>G
c.1285T>G
c.12893T>G (p.Val4298Gly)
c.12878T>G (p.Val4293Gly)
c.12875T>G (p.Val4292Gly)
c.6262T>G
c.12860T>G (p.Val4287Gly)
c.12890T>G (p.Val4297Gly)
19g.38565227dupCA2335084751RYR1c.1303dup
c.1285dup
c.12893dup (p.Ala4299GlyfsTer?)
c.12878dup (p.Ala4294GlyfsTer?)
c.12875dup (p.Ala4293GlyfsTer?)
c.6262dup
c.12860dup (p.Ala4288GlyfsTer?)
c.12890dup (p.Ala4298GlyfsTer?)
dbSNP
19g.38565228G>ACA507355536RYR1c.1304G>A
c.1286G>A
c.12894G>A (p.Val4298=)
c.12879G>A (p.Val4293=)
c.12876G>A (p.Val4292=)
c.6263G>A
c.12861G>A (p.Val4287=)
c.12891G>A (p.Val4297=)
19g.38565228G>CCA507355537RYR1c.1304G>C
c.1286G>C
c.12894G>C (p.Val4298=)
c.12879G>C (p.Val4293=)
c.12876G>C (p.Val4292=)
c.6263G>C
c.12861G>C (p.Val4287=)
c.12891G>C (p.Val4297=)
dbSNP gnomAD v3 gnomAD v4
19g.38565228G=CA2335084752RYR1c.1304G=
c.1286G=
c.12894G= (p.Val4298=)
c.12879G= (p.Val4293=)
c.12876G= (p.Val4292=)
c.6263G=
c.12861G= (p.Val4287=)
c.12891G= (p.Val4297=)
19g.38565228G>TCA507355538RYR1c.1304G>T
c.1286G>T
c.12894G>T (p.Val4298=)
c.12879G>T (p.Val4293=)
c.12876G>T (p.Val4292=)
c.6263G>T
c.12861G>T (p.Val4287=)
c.12891G>T (p.Val4297=)
19g.38565229delCA2584909130RYR1c.1305del
c.1287del
c.12895del (p.Ala4299ArgfsTer?)
c.12880del (p.Ala4294ArgfsTer?)
c.12877del (p.Ala4293ArgfsTer?)
c.12862del (p.Ala4288ArgfsTer?)
c.12892del (p.Ala4298ArgfsTer?)
gnomAD v4
19g.38565229G>ACA405672485RYR1c.1305G>A
c.1287G>A
c.12895G>A (p.Ala4299Thr)
c.12880G>A (p.Ala4294Thr)
c.12877G>A (p.Ala4293Thr)
c.12862G>A (p.Ala4288Thr)
c.12892G>A (p.Ala4298Thr)
19g.38565229G>CCA405672483RYR1c.1305G>C
c.1287G>C
c.12895G>C (p.Ala4299Pro)
c.12880G>C (p.Ala4294Pro)
c.12877G>C (p.Ala4293Pro)
c.12862G>C (p.Ala4288Pro)
c.12892G>C (p.Ala4298Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565229G=CA2335084753RYR1c.1305G=
c.1287G=
c.12895G= (p.Ala4299=)
c.12880G= (p.Ala4294=)
c.12877G= (p.Ala4293=)
c.12862G= (p.Ala4288=)
c.12892G= (p.Ala4298=)
19g.38565229G>TCA405672481RYR1c.1305G>T
c.1287G>T
c.12895G>T (p.Ala4299Ser)
c.12880G>T (p.Ala4294Ser)
c.12877G>T (p.Ala4293Ser)
c.12862G>T (p.Ala4288Ser)
c.12892G>T (p.Ala4298Ser)
gnomAD v4
19g.38565230C>ACA405672491RYR1c.1306C>A
c.1288C>A
c.12896C>A (p.Ala4299Glu)
c.12881C>A (p.Ala4294Glu)
c.12878C>A (p.Ala4293Glu)
c.12863C>A (p.Ala4288Glu)
c.12893C>A (p.Ala4298Glu)
gnomAD v4
19g.38565230C=CA2335084754RYR1c.1306C=
c.1288C=
c.12896C= (p.Ala4299=)
c.12881C= (p.Ala4294=)
c.12878C= (p.Ala4293=)
c.12863C= (p.Ala4288=)
c.12893C= (p.Ala4298=)
19g.38565230C>GCA405672487RYR1c.1306C>G
c.1288C>G
c.12896C>G (p.Ala4299Gly)
c.12881C>G (p.Ala4294Gly)
c.12878C>G (p.Ala4293Gly)
c.12863C>G (p.Ala4288Gly)
c.12893C>G (p.Ala4298Gly)
19g.38565230C>TCA405672488RYR1c.1306C>T
c.1288C>T
c.12896C>T (p.Ala4299Val)
c.12881C>T (p.Ala4294Val)
c.12878C>T (p.Ala4293Val)
c.12863C>T (p.Ala4288Val)
c.12893C>T (p.Ala4298Val)
dbSNP gnomAD v4
19g.38565231G>ACA507355543RYR1c.1307G>A
c.1289G>A
c.12897G>A (p.Ala4299=)
c.12882G>A (p.Ala4294=)
c.12879G>A (p.Ala4293=)
c.12864G>A (p.Ala4288=)
c.12894G>A (p.Ala4298=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565231G>CCA507355544RYR1c.1307G>C
c.1289G>C
c.12897G>C (p.Ala4299=)
c.12882G>C (p.Ala4294=)
c.12879G>C (p.Ala4293=)
c.12864G>C (p.Ala4288=)
c.12894G>C (p.Ala4298=)
19g.38565231G=CA2335084755RYR1c.1307G=
c.1289G=
c.12897G= (p.Ala4299=)
c.12882G= (p.Ala4294=)
c.12879G= (p.Ala4293=)
c.12864G= (p.Ala4288=)
c.12894G= (p.Ala4298=)
19g.38565231G>TCA507355545RYR1c.1307G>T
c.1289G>T
c.12897G>T (p.Ala4299=)
c.12882G>T (p.Ala4294=)
c.12879G>T (p.Ala4293=)
c.12864G>T (p.Ala4288=)
c.12894G>T (p.Ala4298=)
ClinVar dbSNP gnomAD v4
19g.38565231_38565232insCCCA2529490714RYR1c.1307_1308insCC
c.1289_1290insCC
c.12897_12898insCC (p.Ala4300ProfsTer?)
c.12882_12883insCC (p.Ala4295ProfsTer?)
c.12879_12880insCC (p.Ala4294ProfsTer?)
c.12864_12865insCC (p.Ala4289ProfsTer?)
c.12894_12895insCC (p.Ala4299ProfsTer?)
19g.38565232G>ACA405672493RYR1c.1308G>A
c.1290G>A
c.12898G>A (p.Ala4300Thr)
c.12883G>A (p.Ala4295Thr)
c.12880G>A (p.Ala4294Thr)
c.12865G>A (p.Ala4289Thr)
c.12895G>A (p.Ala4299Thr)
gnomAD v4
19g.38565232G>CCA405672496RYR1c.1308G>C
c.1290G>C
c.12898G>C (p.Ala4300Pro)
c.12883G>C (p.Ala4295Pro)
c.12880G>C (p.Ala4294Pro)
c.12865G>C (p.Ala4289Pro)
c.12895G>C (p.Ala4299Pro)
19g.38565232G>TCA405672497RYR1c.1308G>T
c.1290G>T
c.12898G>T (p.Ala4300Ser)
c.12883G>T (p.Ala4295Ser)
c.12880G>T (p.Ala4294Ser)
c.12865G>T (p.Ala4289Ser)
c.12895G>T (p.Ala4299Ser)
19g.38565233C>ACA405672504RYR1c.1309C>A
c.1291C>A
c.12899C>A (p.Ala4300Asp)
c.12884C>A (p.Ala4295Asp)
c.12881C>A (p.Ala4294Asp)
c.12866C>A (p.Ala4289Asp)
c.12896C>A (p.Ala4299Asp)
19g.38565233C=CA2335084756RYR1c.1309C=
c.1291C=
c.12899C= (p.Ala4300=)
c.12884C= (p.Ala4295=)
c.12881C= (p.Ala4294=)
c.12866C= (p.Ala4289=)
c.12896C= (p.Ala4299=)
19g.38565233C>GCA405672502RYR1c.1309C>G
c.1291C>G
c.12899C>G (p.Ala4300Gly)
c.12884C>G (p.Ala4295Gly)
c.12881C>G (p.Ala4294Gly)
c.12866C>G (p.Ala4289Gly)
c.12896C>G (p.Ala4299Gly)
dbSNP
19g.38565233C>TCA405672501RYR1c.1309C>T
c.1291C>T
c.12899C>T (p.Ala4300Val)
c.12884C>T (p.Ala4295Val)
c.12881C>T (p.Ala4294Val)
c.12866C>T (p.Ala4289Val)
c.12896C>T (p.Ala4299Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38565234C>ACA507355551RYR1c.1310C>A
c.1292C>A
c.12900C>A (p.Ala4300=)
c.12885C>A (p.Ala4295=)
c.12882C>A (p.Ala4294=)
c.12867C>A (p.Ala4289=)
c.12897C>A (p.Ala4299=)
19g.38565234C=CA2335084757RYR1c.1310C=
c.1292C=
c.12900C= (p.Ala4300=)
c.12885C= (p.Ala4295=)
c.12882C= (p.Ala4294=)
c.12867C= (p.Ala4289=)
c.12897C= (p.Ala4299=)
19g.38565234C>GCA507355552RYR1c.1310C>G
c.1292C>G
c.12900C>G (p.Ala4300=)
c.12885C>G (p.Ala4295=)
c.12882C>G (p.Ala4294=)
c.12867C>G (p.Ala4289=)
c.12897C>G (p.Ala4299=)
19g.38565234C>TCA507355553RYR1c.1310C>T
c.1292C>T
c.12900C>T (p.Ala4300=)
c.12885C>T (p.Ala4295=)
c.12882C>T (p.Ala4294=)
c.12867C>T (p.Ala4289=)
c.12897C>T (p.Ala4299=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565235G>ACA405672506RYR1c.1311G>A
c.1293G>A
c.12901G>A (p.Ala4301Thr)
c.12886G>A (p.Ala4296Thr)
c.12883G>A (p.Ala4295Thr)
c.12868G>A (p.Ala4290Thr)
c.12898G>A (p.Ala4300Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565235G>CCA405672508RYR1c.1311G>C
c.1293G>C
c.12901G>C (p.Ala4301Pro)
c.12886G>C (p.Ala4296Pro)
c.12883G>C (p.Ala4295Pro)
c.12868G>C (p.Ala4290Pro)
c.12898G>C (p.Ala4300Pro)
gnomAD v4
19g.38565235G=CA2335084758RYR1c.1311G=
c.1293G=
c.12901G= (p.Ala4301=)
c.12886G= (p.Ala4296=)
c.12883G= (p.Ala4295=)
c.12868G= (p.Ala4290=)
c.12898G= (p.Ala4300=)
19g.38565235G>TCA405672509RYR1c.1311G>T
c.1293G>T
c.12901G>T (p.Ala4301Ser)
c.12886G>T (p.Ala4296Ser)
c.12883G>T (p.Ala4295Ser)
c.12868G>T (p.Ala4290Ser)
c.12898G>T (p.Ala4300Ser)
gnomAD v4
19g.38565236C>ACA405672511RYR1c.1312C>A
c.1294C>A
c.12902C>A (p.Ala4301Glu)
c.12887C>A (p.Ala4296Glu)
c.12884C>A (p.Ala4295Glu)
c.12869C>A (p.Ala4290Glu)
c.12899C>A (p.Ala4300Glu)
gnomAD v4
19g.38565236C=CA2335084759RYR1c.1312C=
c.1294C=
c.12902C= (p.Ala4301=)
c.12887C= (p.Ala4296=)
c.12884C= (p.Ala4295=)
c.12869C= (p.Ala4290=)
c.12899C= (p.Ala4300=)
19g.38565236C>GCA405672514RYR1c.1312C>G
c.1294C>G
c.12902C>G (p.Ala4301Gly)
c.12887C>G (p.Ala4296Gly)
c.12884C>G (p.Ala4295Gly)
c.12869C>G (p.Ala4290Gly)
c.12899C>G (p.Ala4300Gly)
gnomAD v4
19g.38565236C>TCA405672520RYR1c.1312C>T
c.1294C>T
c.12902C>T (p.Ala4301Val)
c.12887C>T (p.Ala4296Val)
c.12884C>T (p.Ala4295Val)
c.12869C>T (p.Ala4290Val)
c.12899C>T (p.Ala4300Val)
dbSNP gnomAD v3 gnomAD v4
19g.38565237A>CCA507355556RYR1c.1313A>C
c.1295A>C
c.12903A>C (p.Ala4301=)
c.12888A>C (p.Ala4296=)
c.12885A>C (p.Ala4295=)
c.12870A>C (p.Ala4290=)
c.12900A>C (p.Ala4300=)
19g.38565237A>GCA507355557RYR1c.1313A>G
c.1295A>G
c.12903A>G (p.Ala4301=)
c.12888A>G (p.Ala4296=)
c.12885A>G (p.Ala4295=)
c.12870A>G (p.Ala4290=)
c.12900A>G (p.Ala4300=)
gnomAD v4
19g.38565237A>TCA507355558RYR1c.1313A>T
c.1295A>T
c.12903A>T (p.Ala4301=)
c.12888A>T (p.Ala4296=)
c.12885A>T (p.Ala4295=)
c.12870A>T (p.Ala4290=)
c.12900A>T (p.Ala4300=)
gnomAD v4
19g.38565238G>ACA405672524RYR1c.1314G>A
c.1296G>A
c.12904G>A (p.Gly4302Ser)
c.12889G>A (p.Gly4297Ser)
c.12886G>A (p.Gly4296Ser)
c.12871G>A (p.Gly4291Ser)
c.12901G>A (p.Gly4301Ser)
gnomAD v4
19g.38565238G>CCA405672526RYR1c.1314G>C
c.1296G>C
c.12904G>C (p.Gly4302Arg)
c.12889G>C (p.Gly4297Arg)
c.12886G>C (p.Gly4296Arg)
c.12871G>C (p.Gly4291Arg)
c.12901G>C (p.Gly4301Arg)
19g.38565238G>TCA405672525RYR1c.1314G>T
c.1296G>T
c.12904G>T (p.Gly4302Cys)
c.12889G>T (p.Gly4297Cys)
c.12886G>T (p.Gly4296Cys)
c.12871G>T (p.Gly4291Cys)
c.12901G>T (p.Gly4301Cys)
19g.38565239G>ACA405672527RYR1c.1315G>A
c.1297G>A
c.12905G>A (p.Gly4302Asp)
c.12890G>A (p.Gly4297Asp)
c.12887G>A (p.Gly4296Asp)
c.12872G>A (p.Gly4291Asp)
c.12902G>A (p.Gly4301Asp)
gnomAD v4
19g.38565239G>CCA405672528RYR1c.1315G>C
c.1297G>C
c.12905G>C (p.Gly4302Ala)
c.12890G>C (p.Gly4297Ala)
c.12887G>C (p.Gly4296Ala)
c.12872G>C (p.Gly4291Ala)
c.12902G>C (p.Gly4301Ala)
19g.38565239G>TCA405672529RYR1c.1315G>T
c.1297G>T
c.12905G>T (p.Gly4302Val)
c.12890G>T (p.Gly4297Val)
c.12887G>T (p.Gly4296Val)
c.12872G>T (p.Gly4291Val)
c.12902G>T (p.Gly4301Val)
gnomAD v4
19g.38565240C>ACA507355564RYR1c.1316C>A
c.1298C>A
c.12906C>A (p.Gly4302=)
c.12891C>A (p.Gly4297=)
c.12888C>A (p.Gly4296=)
c.12873C>A (p.Gly4291=)
c.12903C>A (p.Gly4301=)
gnomAD v4
19g.38565240C>GCA507355566RYR1c.1316C>G
c.1298C>G
c.12906C>G (p.Gly4302=)
c.12891C>G (p.Gly4297=)
c.12888C>G (p.Gly4296=)
c.12873C>G (p.Gly4291=)
c.12903C>G (p.Gly4301=)
19g.38565240C>TCA507355565RYR1c.1316C>T
c.1298C>T
c.12906C>T (p.Gly4302=)
c.12891C>T (p.Gly4297=)
c.12888C>T (p.Gly4296=)
c.12873C>T (p.Gly4291=)
c.12903C>T (p.Gly4301=)
gnomAD v4
19g.38565241C>ACA507355569RYR1c.1317C>A
c.1299C>A
c.12907C>A (p.Arg4303=)
c.12892C>A (p.Arg4298=)
c.12889C>A (p.Arg4297=)
c.12874C>A (p.Arg4292=)
c.12904C>A (p.Arg4302=)
gnomAD v3 gnomAD v4
19g.38565241C=CA2335084760RYR1c.1317C=
c.1299C=
c.12907C= (p.Arg4303=)
c.12892C= (p.Arg4298=)
c.12889C= (p.Arg4297=)
c.12874C= (p.Arg4292=)
c.12904C= (p.Arg4302=)
19g.38565241C>GCA308109361RYR1c.1317C>G
c.1299C>G
c.12907C>G (p.Arg4303Gly)
c.12892C>G (p.Arg4298Gly)
c.12889C>G (p.Arg4297Gly)
c.12874C>G (p.Arg4292Gly)
c.12904C>G (p.Arg4302Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565241C>TCA405672533RYR1c.1317C>T
c.1299C>T
c.12907C>T (p.Arg4303Trp)
c.12892C>T (p.Arg4298Trp)
c.12889C>T (p.Arg4297Trp)
c.12874C>T (p.Arg4292Trp)
c.12904C>T (p.Arg4302Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565242G>ACA405672535RYR1c.1318G>A
c.1300G>A
c.12908G>A (p.Arg4303Gln)
c.12893G>A (p.Arg4298Gln)
c.12890G>A (p.Arg4297Gln)
c.12875G>A (p.Arg4292Gln)
c.12905G>A (p.Arg4302Gln)
dbSNP gnomAD v2 gnomAD v4
19g.38565242G>CCA405672538RYR1c.1318G>C
c.1300G>C
c.12908G>C (p.Arg4303Pro)
c.12893G>C (p.Arg4298Pro)
c.12890G>C (p.Arg4297Pro)
c.12875G>C (p.Arg4292Pro)
c.12905G>C (p.Arg4302Pro)
19g.38565242G=CA2335084761RYR1c.1318G=
c.1300G=
c.12908G= (p.Arg4303=)
c.12893G= (p.Arg4298=)
c.12890G= (p.Arg4297=)
c.12875G= (p.Arg4292=)
c.12905G= (p.Arg4302=)
19g.38565242G>TCA405672539RYR1c.1318G>T
c.1300G>T
c.12908G>T (p.Arg4303Leu)
c.12893G>T (p.Arg4298Leu)
c.12890G>T (p.Arg4297Leu)
c.12875G>T (p.Arg4292Leu)
c.12905G>T (p.Arg4302Leu)
gnomAD v4
19g.38565244delCA2814346152RYR1c.1320del
c.1302del
c.12910del (p.Ala4304ProfsTer?)
c.12895del (p.Ala4299ProfsTer?)
c.12892del (p.Ala4298ProfsTer?)
c.12877del (p.Ala4293ProfsTer?)
c.12907del (p.Ala4303ProfsTer?)
19g.38565243G>ACA507355572RYR1c.1319G>A
c.1301G>A
c.12909G>A (p.Arg4303=)
c.12894G>A (p.Arg4298=)
c.12891G>A (p.Arg4297=)
c.12876G>A (p.Arg4292=)
c.12906G>A (p.Arg4302=)
gnomAD v4
19g.38565243G>CCA507355573RYR1c.1319G>C
c.1301G>C
c.12909G>C (p.Arg4303=)
c.12894G>C (p.Arg4298=)
c.12891G>C (p.Arg4297=)
c.12876G>C (p.Arg4292=)
c.12906G>C (p.Arg4302=)
ClinVar
19g.38565243G>TCA507355574RYR1c.1319G>T
c.1301G>T
c.12909G>T (p.Arg4303=)
c.12894G>T (p.Arg4298=)
c.12891G>T (p.Arg4297=)
c.12876G>T (p.Arg4292=)
c.12906G>T (p.Arg4302=)
19g.38565244G>ACA308109364RYR1c.1320G>A
c.1302G>A
c.12910G>A (p.Ala4304Thr)
c.12895G>A (p.Ala4299Thr)
c.12892G>A (p.Ala4298Thr)
c.12877G>A (p.Ala4293Thr)
c.12907G>A (p.Ala4303Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565244G>CCA405672542RYR1c.1320G>C
c.1302G>C
c.12910G>C (p.Ala4304Pro)
c.12895G>C (p.Ala4299Pro)
c.12892G>C (p.Ala4298Pro)
c.12877G>C (p.Ala4293Pro)
c.12907G>C (p.Ala4303Pro)
19g.38565244G=CA2335084762RYR1c.1320G=
c.1302G=
c.12910G= (p.Ala4304=)
c.12895G= (p.Ala4299=)
c.12892G= (p.Ala4298=)
c.12877G= (p.Ala4293=)
c.12907G= (p.Ala4303=)
19g.38565244G>TCA405672544RYR1c.1320G>T
c.1302G>T
c.12910G>T (p.Ala4304Ser)
c.12895G>T (p.Ala4299Ser)
c.12892G>T (p.Ala4298Ser)
c.12877G>T (p.Ala4293Ser)
c.12907G>T (p.Ala4303Ser)
gnomAD v4
19g.38565245C>ACA405672551RYR1c.1321C>A
c.1303C>A
c.12911C>A (p.Ala4304Asp)
c.12896C>A (p.Ala4299Asp)
c.12893C>A (p.Ala4298Asp)
c.12878C>A (p.Ala4293Asp)
c.12908C>A (p.Ala4303Asp)
gnomAD v4
19g.38565245C>GCA405672550RYR1c.1321C>G
c.1303C>G
c.12911C>G (p.Ala4304Gly)
c.12896C>G (p.Ala4299Gly)
c.12893C>G (p.Ala4298Gly)
c.12878C>G (p.Ala4293Gly)
c.12908C>G (p.Ala4303Gly)
19g.38565245C>TCA405672547RYR1c.1321C>T
c.1303C>T
c.12911C>T (p.Ala4304Val)
c.12896C>T (p.Ala4299Val)
c.12893C>T (p.Ala4298Val)
c.12878C>T (p.Ala4293Val)
c.12908C>T (p.Ala4303Val)
gnomAD v4
19g.38565247delCA2584909131RYR1c.1323del
c.1305del
c.12913del (p.Leu4305CysfsTer?)
c.12898del (p.Leu4300CysfsTer?)
c.12895del (p.Leu4299CysfsTer?)
c.12880del (p.Leu4294CysfsTer?)
c.12910del (p.Leu4304CysfsTer?)
gnomAD v4
19g.38565246C>ACA507355579RYR1c.1322C>A
c.1304C>A
c.12912C>A (p.Ala4304=)
c.12897C>A (p.Ala4299=)
c.12894C>A (p.Ala4298=)
c.12879C>A (p.Ala4293=)
c.12909C>A (p.Ala4303=)
19g.38565246C=CA2335084763RYR1c.1322C=
c.1304C=
c.12912C= (p.Ala4304=)
c.12897C= (p.Ala4299=)
c.12894C= (p.Ala4298=)
c.12879C= (p.Ala4293=)
c.12909C= (p.Ala4303=)
19g.38565246C>GCA507355580RYR1c.1322C>G
c.1304C>G
c.12912C>G (p.Ala4304=)
c.12897C>G (p.Ala4299=)
c.12894C>G (p.Ala4298=)
c.12879C>G (p.Ala4293=)
c.12909C>G (p.Ala4303=)
19g.38565246C>TCA507355581RYR1c.1322C>T
c.1304C>T
c.12912C>T (p.Ala4304=)
c.12897C>T (p.Ala4299=)
c.12894C>T (p.Ala4298=)
c.12879C>T (p.Ala4293=)
c.12909C>T (p.Ala4303=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565247C>ACA405672553RYR1c.1323C>A
c.1305C>A
c.12913C>A (p.Leu4305Met)
c.12898C>A (p.Leu4300Met)
c.12895C>A (p.Leu4299Met)
c.12880C>A (p.Leu4294Met)
c.12910C>A (p.Leu4304Met)
19g.38565247C>GCA405672555RYR1c.1323C>G
c.1305C>G
c.12913C>G (p.Leu4305Val)
c.12898C>G (p.Leu4300Val)
c.12895C>G (p.Leu4299Val)
c.12880C>G (p.Leu4294Val)
c.12910C>G (p.Leu4304Val)
19g.38565247C>TCA507355583RYR1c.1323C>T
c.1305C>T
c.12913C>T (p.Leu4305=)
c.12898C>T (p.Leu4300=)
c.12895C>T (p.Leu4299=)
c.12880C>T (p.Leu4294=)
c.12910C>T (p.Leu4304=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565248T>ACA405672557RYR1c.1324T>A
c.1306T>A
c.12914T>A (p.Leu4305Gln)
c.12899T>A (p.Leu4300Gln)
c.12896T>A (p.Leu4299Gln)
c.12881T>A (p.Leu4294Gln)
c.12911T>A (p.Leu4304Gln)
19g.38565248T>CCA405672559RYR1c.1324T>C
c.1306T>C
c.12914T>C (p.Leu4305Pro)
c.12899T>C (p.Leu4300Pro)
c.12896T>C (p.Leu4299Pro)
c.12881T>C (p.Leu4294Pro)
c.12911T>C (p.Leu4304Pro)
dbSNP gnomAD v3 gnomAD v4
19g.38565248T>GCA405672562RYR1c.1324T>G
c.1306T>G
c.12914T>G (p.Leu4305Arg)
c.12899T>G (p.Leu4300Arg)
c.12896T>G (p.Leu4299Arg)
c.12881T>G (p.Leu4294Arg)
c.12911T>G (p.Leu4304Arg)
dbSNP
19g.38565248T=CA2335084764RYR1c.1324T=
c.1306T=
c.12914T= (p.Leu4305=)
c.12899T= (p.Leu4300=)
c.12896T= (p.Leu4299=)
c.12881T= (p.Leu4294=)
c.12911T= (p.Leu4304=)
19g.38565249G>ACA507355585RYR1c.1325G>A
c.1307G>A
c.12915G>A (p.Leu4305=)
c.12900G>A (p.Leu4300=)
c.12897G>A (p.Leu4299=)
c.12882G>A (p.Leu4294=)
c.12912G>A (p.Leu4304=)
gnomAD v4
19g.38565249G>CCA507355586RYR1c.1325G>C
c.1307G>C
c.12915G>C (p.Leu4305=)
c.12900G>C (p.Leu4300=)
c.12897G>C (p.Leu4299=)
c.12882G>C (p.Leu4294=)
c.12912G>C (p.Leu4304=)
19g.38565249G>TCA507355587RYR1c.1325G>T
c.1307G>T
c.12915G>T (p.Leu4305=)
c.12900G>T (p.Leu4300=)
c.12897G>T (p.Leu4299=)
c.12882G>T (p.Leu4294=)
c.12912G>T (p.Leu4304=)
19g.38565250C>ACA507355589RYR1c.1326C>A
c.1308C>A
c.12916C>A (p.Arg4306=)
c.12901C>A (p.Arg4301=)
c.12898C>A (p.Arg4300=)
c.12883C>A (p.Arg4295=)
c.12913C>A (p.Arg4305=)
gnomAD v4
19g.38565250C=CA2335084765RYR1c.1326C=
c.1308C=
c.12916C= (p.Arg4306=)
c.12901C= (p.Arg4301=)
c.12898C= (p.Arg4300=)
c.12883C= (p.Arg4295=)
c.12913C= (p.Arg4305=)
19g.38565250C>GCA405672563RYR1c.1326C>G
c.1308C>G
c.12916C>G (p.Arg4306Gly)
c.12901C>G (p.Arg4301Gly)
c.12898C>G (p.Arg4300Gly)
c.12883C>G (p.Arg4295Gly)
c.12913C>G (p.Arg4305Gly)
19g.38565250C>TCA405672565RYR1c.1326C>T
c.1308C>T
c.12916C>T (p.Arg4306Ter)
c.12901C>T (p.Arg4301Ter)
c.12898C>T (p.Arg4300Ter)
c.12883C>T (p.Arg4295Ter)
c.12913C>T (p.Arg4305Ter)
ClinVar dbSNP gnomAD v4
19g.38565251G>ACA405672567RYR1c.1327G>A
c.1309G>A
c.12917G>A (p.Arg4306Gln)
c.12902G>A (p.Arg4301Gln)
c.12899G>A (p.Arg4300Gln)
c.12884G>A (p.Arg4295Gln)
c.12914G>A (p.Arg4305Gln)
ClinVar dbSNP gnomAD v4
19g.38565251G>CCA405672570RYR1c.1327G>C
c.1309G>C
c.12917G>C (p.Arg4306Pro)
c.12902G>C (p.Arg4301Pro)
c.12899G>C (p.Arg4300Pro)
c.12884G>C (p.Arg4295Pro)
c.12914G>C (p.Arg4305Pro)
19g.38565251G>TCA405672572RYR1c.1327G>T
c.1309G>T
c.12917G>T (p.Arg4306Leu)
c.12902G>T (p.Arg4301Leu)
c.12899G>T (p.Arg4300Leu)
c.12884G>T (p.Arg4295Leu)
c.12914G>T (p.Arg4305Leu)
19g.38565252A>CCA507355594RYR1c.1328A>C
c.1310A>C
c.12918A>C (p.Arg4306=)
c.12903A>C (p.Arg4301=)
c.12900A>C (p.Arg4300=)
c.12885A>C (p.Arg4295=)
c.12915A>C (p.Arg4305=)
19g.38565252A>GCA507355596RYR1c.1328A>G
c.1310A>G
c.12918A>G (p.Arg4306=)
c.12903A>G (p.Arg4301=)
c.12900A>G (p.Arg4300=)
c.12885A>G (p.Arg4295=)
c.12915A>G (p.Arg4305=)
dbSNP gnomAD v4
19g.38565252A>TCA507355595RYR1c.1328A>T
c.1310A>T
c.12918A>T (p.Arg4306=)
c.12903A>T (p.Arg4301=)
c.12900A>T (p.Arg4300=)
c.12885A>T (p.Arg4295=)
c.12915A>T (p.Arg4305=)
19g.38565253G>ACA405672574RYR1c.1329G>A
c.1311G>A
c.12919G>A (p.Gly4307Ser)
c.12904G>A (p.Gly4302Ser)
c.12901G>A (p.Gly4301Ser)
c.12886G>A (p.Gly4296Ser)
c.12916G>A (p.Gly4306Ser)
19g.38565253G>CCA405672575RYR1c.1329G>C
c.1311G>C
c.12919G>C (p.Gly4307Arg)
c.12904G>C (p.Gly4302Arg)
c.12901G>C (p.Gly4301Arg)
c.12886G>C (p.Gly4296Arg)
c.12916G>C (p.Gly4306Arg)
gnomAD v4
19g.38565253G=CA2335084766RYR1c.1329G=
c.1311G=
c.12919G= (p.Gly4307=)
c.12904G= (p.Gly4302=)
c.12901G= (p.Gly4301=)
c.12886G= (p.Gly4296=)
c.12916G= (p.Gly4306=)
19g.38565253G>TCA405672577RYR1c.1329G>T
c.1311G>T
c.12919G>T (p.Gly4307Cys)
c.12904G>T (p.Gly4302Cys)
c.12901G>T (p.Gly4301Cys)
c.12886G>T (p.Gly4296Cys)
c.12916G>T (p.Gly4306Cys)
dbSNP gnomAD v4
19g.38565254G>ACA405672584RYR1c.1330G>A
c.1312G>A
c.12920G>A (p.Gly4307Asp)
c.12905G>A (p.Gly4302Asp)
c.12902G>A (p.Gly4301Asp)
c.12887G>A (p.Gly4296Asp)
c.12917G>A (p.Gly4306Asp)
dbSNP gnomAD v4
19g.38565254G>CCA405672583RYR1c.1330G>C
c.1312G>C
c.12920G>C (p.Gly4307Ala)
c.12905G>C (p.Gly4302Ala)
c.12902G>C (p.Gly4301Ala)
c.12887G>C (p.Gly4296Ala)
c.12917G>C (p.Gly4306Ala)
gnomAD v4
19g.38565254G=CA2335084767RYR1c.1330G=
c.1312G=
c.12920G= (p.Gly4307=)
c.12905G= (p.Gly4302=)
c.12902G= (p.Gly4301=)
c.12887G= (p.Gly4296=)
c.12917G= (p.Gly4306=)
19g.38565254G>TCA405672580RYR1c.1330G>T
c.1312G>T
c.12920G>T (p.Gly4307Val)
c.12905G>T (p.Gly4302Val)
c.12902G>T (p.Gly4301Val)
c.12887G>T (p.Gly4296Val)
c.12917G>T (p.Gly4306Val)
dbSNP gnomAD v4
19g.38565255C>ACA507355602RYR1c.1331C>A
c.1313C>A
c.12921C>A (p.Gly4307=)
c.12906C>A (p.Gly4302=)
c.12903C>A (p.Gly4301=)
c.12888C>A (p.Gly4296=)
c.12918C>A (p.Gly4306=)
gnomAD v4
19g.38565255C=CA2335084768RYR1c.1331C=
c.1313C=
c.12921C= (p.Gly4307=)
c.12906C= (p.Gly4302=)
c.12903C= (p.Gly4301=)
c.12888C= (p.Gly4296=)
c.12918C= (p.Gly4306=)
19g.38565255C>GCA507355603RYR1c.1331C>G
c.1313C>G
c.12921C>G (p.Gly4307=)
c.12906C>G (p.Gly4302=)
c.12903C>G (p.Gly4301=)
c.12888C>G (p.Gly4296=)
c.12918C>G (p.Gly4306=)
19g.38565255C>TCA507355605RYR1c.1331C>T
c.1313C>T
c.12921C>T (p.Gly4307=)
c.12906C>T (p.Gly4302=)
c.12903C>T (p.Gly4301=)
c.12888C>T (p.Gly4296=)
c.12918C>T (p.Gly4306=)
dbSNP
19g.38565256C>ACA405672587RYR1c.1332C>A
c.1314C>A
c.12922C>A (p.Leu4308Ile)
c.12907C>A (p.Leu4303Ile)
c.12904C>A (p.Leu4302Ile)
c.12889C>A (p.Leu4297Ile)
c.12919C>A (p.Leu4307Ile)
dbSNP gnomAD v4
19g.38565256C=CA2335084769RYR1c.1332C=
c.1314C=
c.12922C= (p.Leu4308=)
c.12907C= (p.Leu4303=)
c.12904C= (p.Leu4302=)
c.12889C= (p.Leu4297=)
c.12919C= (p.Leu4307=)
19g.38565256C>GCA405672590RYR1c.1332C>G
c.1314C>G
c.12922C>G (p.Leu4308Val)
c.12907C>G (p.Leu4303Val)
c.12904C>G (p.Leu4302Val)
c.12889C>G (p.Leu4297Val)
c.12919C>G (p.Leu4307Val)
19g.38565256C>TCA405672592RYR1c.1332C>T
c.1314C>T
c.12922C>T (p.Leu4308Phe)
c.12907C>T (p.Leu4303Phe)
c.12904C>T (p.Leu4302Phe)
c.12889C>T (p.Leu4297Phe)
c.12919C>T (p.Leu4307Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565257T>ACA405672595RYR1c.1333T>A
c.1315T>A
c.12923T>A (p.Leu4308His)
c.12908T>A (p.Leu4303His)
c.12905T>A (p.Leu4302His)
c.12890T>A (p.Leu4297His)
c.12920T>A (p.Leu4307His)
dbSNP
19g.38565257T>CCA308109368RYR1c.1333T>C
c.1315T>C
c.12923T>C (p.Leu4308Pro)
c.12908T>C (p.Leu4303Pro)
c.12905T>C (p.Leu4302Pro)
c.12890T>C (p.Leu4297Pro)
c.12920T>C (p.Leu4307Pro)
dbSNP gnomAD v4
19g.38565257T>GCA405672597RYR1c.1333T>G
c.1315T>G
c.12923T>G (p.Leu4308Arg)
c.12908T>G (p.Leu4303Arg)
c.12905T>G (p.Leu4302Arg)
c.12890T>G (p.Leu4297Arg)
c.12920T>G (p.Leu4307Arg)
19g.38565257T=CA2335084770RYR1c.1333T=
c.1315T=
c.12923T= (p.Leu4308=)
c.12908T= (p.Leu4303=)
c.12905T= (p.Leu4302=)
c.12890T= (p.Leu4297=)
c.12920T= (p.Leu4307=)
19g.38565258C>ACA507355610RYR1c.1334C>A
c.1316C>A
c.12924C>A (p.Leu4308=)
c.12909C>A (p.Leu4303=)
c.12906C>A (p.Leu4302=)
c.12891C>A (p.Leu4297=)
c.12921C>A (p.Leu4307=)
gnomAD v4
19g.38565258C>GCA507355611RYR1c.1334C>G
c.1316C>G
c.12924C>G (p.Leu4308=)
c.12909C>G (p.Leu4303=)
c.12906C>G (p.Leu4302=)
c.12891C>G (p.Leu4297=)
c.12921C>G (p.Leu4307=)
19g.38565258C>TCA507355612RYR1c.1334C>T
c.1316C>T
c.12924C>T (p.Leu4308=)
c.12909C>T (p.Leu4303=)
c.12906C>T (p.Leu4302=)
c.12891C>T (p.Leu4297=)
c.12921C>T (p.Leu4307=)
ClinVar dbSNP gnomAD v4
19g.38565259A>CCA405672598RYR1c.1335A>C
c.1317A>C
c.12925A>C (p.Ser4309Arg)
c.12910A>C (p.Ser4304Arg)
c.12907A>C (p.Ser4303Arg)
c.12892A>C (p.Ser4298Arg)
c.12922A>C (p.Ser4308Arg)
gnomAD v4
19g.38565259A>GCA405672601RYR1c.1335A>G
c.1317A>G
c.12925A>G (p.Ser4309Gly)
c.12910A>G (p.Ser4304Gly)
c.12907A>G (p.Ser4303Gly)
c.12892A>G (p.Ser4298Gly)
c.12922A>G (p.Ser4308Gly)
gnomAD v4
19g.38565259A>TCA405672604RYR1c.1335A>T
c.1317A>T
c.12925A>T (p.Ser4309Cys)
c.12910A>T (p.Ser4304Cys)
c.12907A>T (p.Ser4303Cys)
c.12892A>T (p.Ser4298Cys)
c.12922A>T (p.Ser4308Cys)
19g.38565259_38565260delCA2584909132RYR1c.1335_1336del
c.1317_1318del
c.12925_12926del (p.Ser4309LeufsTer?)
c.12910_12911del (p.Ser4304LeufsTer?)
c.12907_12908del (p.Ser4303LeufsTer?)
c.12892_12893del (p.Ser4298LeufsTer?)
c.12922_12923del (p.Ser4308LeufsTer?)
gnomAD v4
19g.38565260_38565263delCA2576772100RYR1c.1336_1339del
c.1318_1321del
c.12926_12929del (p.Ser4309ThrfsTer?)
c.12911_12914del (p.Ser4304ThrfsTer?)
c.12908_12911del (p.Ser4303ThrfsTer?)
c.12893_12896del (p.Ser4298ThrfsTer?)
c.12923_12926del (p.Ser4308ThrfsTer?)
ClinVar
19g.38565260G>ACA405672607RYR1c.1336G>A
c.1318G>A
c.12926G>A (p.Ser4309Asn)
c.12911G>A (p.Ser4304Asn)
c.12908G>A (p.Ser4303Asn)
c.12893G>A (p.Ser4298Asn)
c.12923G>A (p.Ser4308Asn)
19g.38565260G>CCA405672608RYR1c.1336G>C
c.1318G>C
c.12926G>C (p.Ser4309Thr)
c.12911G>C (p.Ser4304Thr)
c.12908G>C (p.Ser4303Thr)
c.12893G>C (p.Ser4298Thr)
c.12923G>C (p.Ser4308Thr)
dbSNP
19g.38565260G=CA2335084771RYR1c.1336G=
c.1318G=
c.12926G= (p.Ser4309=)
c.12911G= (p.Ser4304=)
c.12908G= (p.Ser4303=)
c.12893G= (p.Ser4298=)
c.12923G= (p.Ser4308=)
19g.38565260G>TCA405672611RYR1c.1336G>T
c.1318G>T
c.12926G>T (p.Ser4309Ile)
c.12911G>T (p.Ser4304Ile)
c.12908G>T (p.Ser4303Ile)
c.12893G>T (p.Ser4298Ile)
c.12923G>T (p.Ser4308Ile)
ClinVar gnomAD v4
19g.38565261C>ACA405672615RYR1c.1337C>A
c.1319C>A
c.12927C>A (p.Ser4309Arg)
c.12912C>A (p.Ser4304Arg)
c.12909C>A (p.Ser4303Arg)
c.12894C>A (p.Ser4298Arg)
c.12924C>A (p.Ser4308Arg)
gnomAD v4
19g.38565261C>GCA405672616RYR1c.1337C>G
c.1319C>G
c.12927C>G (p.Ser4309Arg)
c.12912C>G (p.Ser4304Arg)
c.12909C>G (p.Ser4303Arg)
c.12894C>G (p.Ser4298Arg)
c.12924C>G (p.Ser4308Arg)
19g.38565261C>TCA507355620RYR1c.1337C>T
c.1319C>T
c.12927C>T (p.Ser4309=)
c.12912C>T (p.Ser4304=)
c.12909C>T (p.Ser4303=)
c.12894C>T (p.Ser4298=)
c.12924C>T (p.Ser4308=)
gnomAD v4
19g.38565262T>ACA405672622RYR1c.1338T>A
c.1320T>A
c.12928T>A (p.Tyr4310Asn)
c.12913T>A (p.Tyr4305Asn)
c.12910T>A (p.Tyr4304Asn)
c.12895T>A (p.Tyr4299Asn)
c.12925T>A (p.Tyr4309Asn)
19g.38565262T>CCA405672623RYR1c.1338T>C
c.1320T>C
c.12928T>C (p.Tyr4310His)
c.12913T>C (p.Tyr4305His)
c.12910T>C (p.Tyr4304His)
c.12895T>C (p.Tyr4299His)
c.12925T>C (p.Tyr4309His)
gnomAD v4
19g.38565262T>GCA405672619RYR1c.1338T>G
c.1320T>G
c.12928T>G (p.Tyr4310Asp)
c.12913T>G (p.Tyr4305Asp)
c.12910T>G (p.Tyr4304Asp)
c.12895T>G (p.Tyr4299Asp)
c.12925T>G (p.Tyr4309Asp)
19g.38565263A>CCA405672625RYR1c.1339A>C
c.1321A>C
c.12929A>C (p.Tyr4310Ser)
c.12914A>C (p.Tyr4305Ser)
c.12911A>C (p.Tyr4304Ser)
c.12896A>C (p.Tyr4299Ser)
c.12926A>C (p.Tyr4309Ser)
gnomAD v4
19g.38565263A>GCA405672628RYR1c.1339A>G
c.1321A>G
c.12929A>G (p.Tyr4310Cys)
c.12914A>G (p.Tyr4305Cys)
c.12911A>G (p.Tyr4304Cys)
c.12896A>G (p.Tyr4299Cys)
c.12926A>G (p.Tyr4309Cys)
19g.38565263A>TCA405672630RYR1c.1339A>T
c.1321A>T
c.12929A>T (p.Tyr4310Phe)
c.12914A>T (p.Tyr4305Phe)
c.12911A>T (p.Tyr4304Phe)
c.12896A>T (p.Tyr4299Phe)
c.12926A>T (p.Tyr4309Phe)
19g.38565264C>ACA405672633RYR1c.1340C>A
c.1322C>A
c.12930C>A (p.Tyr4310Ter)
c.12915C>A (p.Tyr4305Ter)
c.12912C>A (p.Tyr4304Ter)
c.12897C>A (p.Tyr4299Ter)
c.12927C>A (p.Tyr4309Ter)
19g.38565264C>GCA405672634RYR1c.1340C>G
c.1322C>G
c.12930C>G (p.Tyr4310Ter)
c.12915C>G (p.Tyr4305Ter)
c.12912C>G (p.Tyr4304Ter)
c.12897C>G (p.Tyr4299Ter)
c.12927C>G (p.Tyr4309Ter)
19g.38565264C>TCA507355628RYR1c.1340C>T
c.1322C>T
c.12930C>T (p.Tyr4310=)
c.12915C>T (p.Tyr4305=)
c.12912C>T (p.Tyr4304=)
c.12897C>T (p.Tyr4299=)
c.12927C>T (p.Tyr4309=)
gnomAD v4
19g.38565265C>ACA405672636RYR1c.1341C>A
c.1323C>A
c.12931C>A (p.Arg4311Ser)
c.12916C>A (p.Arg4306Ser)
c.12913C>A (p.Arg4305Ser)
c.12898C>A (p.Arg4300Ser)
c.12928C>A (p.Arg4310Ser)
ClinVar dbSNP gnomAD v4
19g.38565265C=CA2335084772RYR1c.1341C=
c.1323C=
c.12931C= (p.Arg4311=)
c.12916C= (p.Arg4306=)
c.12913C= (p.Arg4305=)
c.12898C= (p.Arg4300=)
c.12928C= (p.Arg4310=)
19g.38565265C>GCA405672638RYR1c.1341C>G
c.1323C>G
c.12931C>G (p.Arg4311Gly)
c.12916C>G (p.Arg4306Gly)
c.12913C>G (p.Arg4305Gly)
c.12898C>G (p.Arg4300Gly)
c.12928C>G (p.Arg4310Gly)
gnomAD v4
19g.38565265C>TCA405672640RYR1c.1341C>T
c.1323C>T
c.12931C>T (p.Arg4311Cys)
c.12916C>T (p.Arg4306Cys)
c.12913C>T (p.Arg4305Cys)
c.12898C>T (p.Arg4300Cys)
c.12928C>T (p.Arg4310Cys)
dbSNP gnomAD v4
19g.38565266G>ACA405672643RYR1c.1342G>A
c.1324G>A
c.12932G>A (p.Arg4311His)
c.12917G>A (p.Arg4306His)
c.12914G>A (p.Arg4305His)
c.12899G>A (p.Arg4300His)
c.12929G>A (p.Arg4310His)
gnomAD v4
19g.38565266G>CCA405672644RYR1c.1342G>C
c.1324G>C
c.12932G>C (p.Arg4311Pro)
c.12917G>C (p.Arg4306Pro)
c.12914G>C (p.Arg4305Pro)
c.12899G>C (p.Arg4300Pro)
c.12929G>C (p.Arg4310Pro)
gnomAD v4
19g.38565266G>TCA405672646RYR1c.1342G>T
c.1324G>T
c.12932G>T (p.Arg4311Leu)
c.12917G>T (p.Arg4306Leu)
c.12914G>T (p.Arg4305Leu)
c.12899G>T (p.Arg4300Leu)
c.12929G>T (p.Arg4310Leu)
gnomAD v4
19g.38565267C>ACA507355633RYR1c.1343C>A
c.1325C>A
c.12933C>A (p.Arg4311=)
c.12918C>A (p.Arg4306=)
c.12915C>A (p.Arg4305=)
c.12900C>A (p.Arg4300=)
c.12930C>A (p.Arg4310=)
gnomAD v4
19g.38565267C>GCA507355635RYR1c.1343C>G
c.1325C>G
c.12933C>G (p.Arg4311=)
c.12918C>G (p.Arg4306=)
c.12915C>G (p.Arg4305=)
c.12900C>G (p.Arg4300=)
c.12930C>G (p.Arg4310=)
19g.38565267C>TCA507355637RYR1c.1343C>T
c.1325C>T
c.12933C>T (p.Arg4311=)
c.12918C>T (p.Arg4306=)
c.12915C>T (p.Arg4305=)
c.12900C>T (p.Arg4300=)
c.12930C>T (p.Arg4310=)
ClinVar gnomAD v4
19g.38565268A>CCA405672652RYR1c.1344A>C
c.1326A>C
c.12934A>C (p.Ser4312Arg)
c.12919A>C (p.Ser4307Arg)
c.12916A>C (p.Ser4306Arg)
c.12901A>C (p.Ser4301Arg)
c.12931A>C (p.Ser4311Arg)
19g.38565268A>GCA405672651RYR1c.1344A>G
c.1326A>G
c.12934A>G (p.Ser4312Gly)
c.12919A>G (p.Ser4307Gly)
c.12916A>G (p.Ser4306Gly)
c.12901A>G (p.Ser4301Gly)
c.12931A>G (p.Ser4311Gly)
19g.38565268A>TCA405672650RYR1c.1344A>T
c.1326A>T
c.12934A>T (p.Ser4312Cys)
c.12919A>T (p.Ser4307Cys)
c.12916A>T (p.Ser4306Cys)
c.12901A>T (p.Ser4301Cys)
c.12931A>T (p.Ser4311Cys)
19g.38565268_38565280delinsAGCCTGCGGCGGCCA2335084773RYR1c.1344_1356delinsAGCCTGCGGCGGC
c.1326_1338delinsAGCCTGCGGCGGC
c.12934_12946delinsAGCCTGCGGCGGC (p.Ser4312=)
c.12919_12931delinsAGCCTGCGGCGGC (p.Ser4307=)
c.12916_12928delinsAGCCTGCGGCGGC (p.Ser4306=)
c.12901_12913delinsAGCCTGCGGCGGC (p.Ser4301=)
c.12931_12943delinsAGCCTGCGGCGGC (p.Ser4311=)
19g.38565269G>ACA405672653RYR1c.1345G>A
c.1327G>A
c.12935G>A (p.Ser4312Asn)
c.12920G>A (p.Ser4307Asn)
c.12917G>A (p.Ser4306Asn)
c.12902G>A (p.Ser4301Asn)
c.12932G>A (p.Ser4311Asn)
gnomAD v4
19g.38565269G>CCA405672654RYR1c.1345G>C
c.1327G>C
c.12935G>C (p.Ser4312Thr)
c.12920G>C (p.Ser4307Thr)
c.12917G>C (p.Ser4306Thr)
c.12902G>C (p.Ser4301Thr)
c.12932G>C (p.Ser4311Thr)
19g.38565269G>TCA405672657RYR1c.1345G>T
c.1327G>T
c.12935G>T (p.Ser4312Ile)
c.12920G>T (p.Ser4307Ile)
c.12917G>T (p.Ser4306Ile)
c.12902G>T (p.Ser4301Ile)
c.12932G>T (p.Ser4311Ile)
gnomAD v4
19g.38565271_38565282delCA882058704RYR1c.1347_1358del
c.1329_1340del
c.12937_12948del (p.Leu4313_Arg4316del)
c.12922_12933del (p.Leu4308_Arg4311del)
c.12919_12930del (p.Leu4307_Arg4310del)
c.12904_12915del (p.Leu4302_Arg4305del)
c.12934_12945del (p.Leu4312_Arg4315del)
dbSNP
19g.38565270_38565290dupCA2580097183RYR1c.1346_1366dup
c.1328_1348dup
c.12936_12956dup (p.Arg4319_Leu4320insLeuArgArgArgValArgArg)
c.12921_12941dup (p.Arg4314_Leu4315insLeuArgArgArgValArgArg)
c.12918_12938dup (p.Arg4313_Leu4314insLeuArgArgArgValArgArg)
c.12903_12923dup (p.Arg4308_Leu4309insLeuArgArgArgValArgArg)
c.12933_12953dup (p.Arg4318_Leu4319insLeuArgArgArgValArgArg)
ClinVar
19g.38565270C>ACA405672658RYR1c.1346C>A
c.1328C>A
c.12936C>A (p.Ser4312Arg)
c.12921C>A (p.Ser4307Arg)
c.12918C>A (p.Ser4306Arg)
c.12903C>A (p.Ser4301Arg)
c.12933C>A (p.Ser4311Arg)
gnomAD v4
19g.38565270C=CA2335084774RYR1c.1346C=
c.1328C=
c.12936C= (p.Ser4312=)
c.12921C= (p.Ser4307=)
c.12918C= (p.Ser4306=)
c.12903C= (p.Ser4301=)
c.12933C= (p.Ser4311=)
19g.38565270C>GCA405672661RYR1c.1346C>G
c.1328C>G
c.12936C>G (p.Ser4312Arg)
c.12921C>G (p.Ser4307Arg)
c.12918C>G (p.Ser4306Arg)
c.12903C>G (p.Ser4301Arg)
c.12933C>G (p.Ser4311Arg)
gnomAD v4
19g.38565270C>TCA507355646RYR1c.1346C>T
c.1328C>T
c.12936C>T (p.Ser4312=)
c.12921C>T (p.Ser4307=)
c.12918C>T (p.Ser4306=)
c.12903C>T (p.Ser4301=)
c.12933C>T (p.Ser4311=)
19g.38565271C>ACA405672662RYR1c.1347C>A
c.1329C>A
c.12937C>A (p.Leu4313Met)
c.12922C>A (p.Leu4308Met)
c.12919C>A (p.Leu4307Met)
c.12904C>A (p.Leu4302Met)
c.12934C>A (p.Leu4312Met)
gnomAD v4
19g.38565271C=CA2335084776RYR1c.1347C=
c.1329C=
c.12937C= (p.Leu4313=)
c.12922C= (p.Leu4308=)
c.12919C= (p.Leu4307=)
c.12904C= (p.Leu4302=)
c.12934C= (p.Leu4312=)
19g.38565271C>GCA405672665RYR1c.1347C>G
c.1329C>G
c.12937C>G (p.Leu4313Val)
c.12922C>G (p.Leu4308Val)
c.12919C>G (p.Leu4307Val)
c.12904C>G (p.Leu4302Val)
c.12934C>G (p.Leu4312Val)
19g.38565271C>TCA507355647RYR1c.1347C>T
c.1329C>T
c.12937C>T (p.Leu4313=)
c.12922C>T (p.Leu4308=)
c.12919C>T (p.Leu4307=)
c.12904C>T (p.Leu4302=)
c.12934C>T (p.Leu4312=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565271_38565283delinsCTGCGGCGGCGCGCA2335084775RYR1c.1347_1359delinsCTGCGGCGGCGCG
c.1329_1341delinsCTGCGGCGGCGCG
c.12937_12949delinsCTGCGGCGGCGCG (p.Leu4313=)
c.12922_12934delinsCTGCGGCGGCGCG (p.Leu4308=)
c.12919_12931delinsCTGCGGCGGCGCG (p.Leu4307=)
c.12904_12916delinsCTGCGGCGGCGCG (p.Leu4302=)
c.12934_12946delinsCTGCGGCGGCGCG (p.Leu4312=)
19g.38565281_38565301dupCA633066824RYR1c.1357_1377dup
c.1339_1359dup
c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
c.12932_12952dup (p.Arg4317_Leu4318insArgValArgArgLeuArgArg)
c.12929_12949dup (p.Arg4316_Leu4317insArgValArgArgLeuArgArg)
c.12914_12934dup (p.Arg4311_Leu4312insArgValArgArgLeuArgArg)
c.12944_12964dup (p.Arg4321_Leu4322insArgValArgArgLeuArgArg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565281_38565301delCA2584909133RYR1c.1357_1377del
c.1339_1359del
c.12947_12967del (p.Arg4316_Arg4322del)
c.12932_12952del (p.Arg4311_Arg4317del)
c.12929_12949del (p.Arg4310_Arg4316del)
c.12914_12934del (p.Arg4305_Arg4311del)
c.12944_12964del (p.Arg4315_Arg4321del)
gnomAD v4
19g.38565272T>ACA405672666RYR1c.1348T>A
c.1330T>A
c.12938T>A (p.Leu4313Gln)
c.12923T>A (p.Leu4308Gln)
c.12920T>A (p.Leu4307Gln)
c.12905T>A (p.Leu4302Gln)
c.12935T>A (p.Leu4312Gln)
gnomAD v4
19g.38565272T>CCA405672668RYR1c.1348T>C
c.1330T>C
c.12938T>C (p.Leu4313Pro)
c.12923T>C (p.Leu4308Pro)
c.12920T>C (p.Leu4307Pro)
c.12905T>C (p.Leu4302Pro)
c.12935T>C (p.Leu4312Pro)
gnomAD v4
19g.38565272T>GCA405672671RYR1c.1348T>G
c.1330T>G
c.12938T>G (p.Leu4313Arg)
c.12923T>G (p.Leu4308Arg)
c.12920T>G (p.Leu4307Arg)
c.12905T>G (p.Leu4302Arg)
c.12935T>G (p.Leu4312Arg)
19g.38565281_38565292dupCA633066826RYR1c.1357_1368dup
c.1339_1350dup
c.12947_12958dup (p.Arg4319_Leu4320insArgValArgArg)
c.12932_12943dup (p.Arg4314_Leu4315insArgValArgArg)
c.12929_12940dup (p.Arg4313_Leu4314insArgValArgArg)
c.12914_12925dup (p.Arg4308_Leu4309insArgValArgArg)
c.12944_12955dup (p.Arg4318_Leu4319insArgValArgArg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565281_38565292delCA633066825RYR1c.1357_1368del
c.1339_1350del
c.12947_12958del (p.Arg4316_Arg4319del)
c.12932_12943del (p.Arg4311_Arg4314del)
c.12929_12940del (p.Arg4310_Arg4313del)
c.12914_12925del (p.Arg4305_Arg4308del)
c.12944_12955del (p.Arg4315_Arg4318del)
dbSNP gnomAD v2 gnomAD v4
19g.38565273G>ACA507355650RYR1c.1349G>A
c.1331G>A
c.12939G>A (p.Leu4313=)
c.12924G>A (p.Leu4308=)
c.12921G>A (p.Leu4307=)
c.12906G>A (p.Leu4302=)
c.12936G>A (p.Leu4312=)
ClinVar gnomAD v4
19g.38565273G>CCA507355652RYR1c.1349G>C
c.1331G>C
c.12939G>C (p.Leu4313=)
c.12924G>C (p.Leu4308=)
c.12921G>C (p.Leu4307=)
c.12906G>C (p.Leu4302=)
c.12936G>C (p.Leu4312=)
19g.38565273G>TCA507355653RYR1c.1349G>T
c.1331G>T
c.12939G>T (p.Leu4313=)
c.12924G>T (p.Leu4308=)
c.12921G>T (p.Leu4307=)
c.12906G>T (p.Leu4302=)
c.12936G>T (p.Leu4312=)
gnomAD v4
19g.38565279_38565281delCA2584909134RYR1c.1355_1357del
c.1337_1339del
c.12945_12947del (p.Arg4316del)
c.12930_12932del (p.Arg4311del)
c.12927_12929del (p.Arg4310del)
c.12912_12914del (p.Arg4305del)
c.12942_12944del (p.Arg4315del)
gnomAD v4
19g.38565274C>ACA507355654RYR1c.1350C>A
c.1332C>A
c.12940C>A (p.Arg4314=)
c.12925C>A (p.Arg4309=)
c.12922C>A (p.Arg4308=)
c.12907C>A (p.Arg4303=)
c.12937C>A (p.Arg4313=)
19g.38565274C=CA2335084777RYR1c.1350C=
c.1332C=
c.12940C= (p.Arg4314=)
c.12925C= (p.Arg4309=)
c.12922C= (p.Arg4308=)
c.12907C= (p.Arg4303=)
c.12937C= (p.Arg4313=)
19g.38565274C>GCA405672672RYR1c.1350C>G
c.1332C>G
c.12940C>G (p.Arg4314Gly)
c.12925C>G (p.Arg4309Gly)
c.12922C>G (p.Arg4308Gly)
c.12907C>G (p.Arg4303Gly)
c.12937C>G (p.Arg4313Gly)
19g.38565274C>TCA405672674RYR1c.1350C>T
c.1332C>T
c.12940C>T (p.Arg4314Trp)
c.12925C>T (p.Arg4309Trp)
c.12922C>T (p.Arg4308Trp)
c.12907C>T (p.Arg4303Trp)
c.12937C>T (p.Arg4313Trp)
dbSNP gnomAD v3 gnomAD v4
19g.38565275G>ACA405672676RYR1c.1351G>A
c.1333G>A
c.12941G>A (p.Arg4314Gln)
c.12926G>A (p.Arg4309Gln)
c.12923G>A (p.Arg4308Gln)
c.12908G>A (p.Arg4303Gln)
c.12938G>A (p.Arg4313Gln)
gnomAD v4
19g.38565275G>CCA405672680RYR1c.1351G>C
c.1333G>C
c.12941G>C (p.Arg4314Pro)
c.12926G>C (p.Arg4309Pro)
c.12923G>C (p.Arg4308Pro)
c.12908G>C (p.Arg4303Pro)
c.12938G>C (p.Arg4313Pro)
19g.38565275G>TCA405672678RYR1c.1351G>T
c.1333G>T
c.12941G>T (p.Arg4314Leu)
c.12926G>T (p.Arg4309Leu)
c.12923G>T (p.Arg4308Leu)
c.12908G>T (p.Arg4303Leu)
c.12938G>T (p.Arg4313Leu)
gnomAD v4
19g.38565276G>ACA507355657RYR1c.1352G>A
c.1334G>A
c.12942G>A (p.Arg4314=)
c.12927G>A (p.Arg4309=)
c.12924G>A (p.Arg4308=)
c.12909G>A (p.Arg4303=)
c.12939G>A (p.Arg4313=)
gnomAD v4
19g.38565276G>CCA507355658RYR1c.1352G>C
c.1334G>C
c.12942G>C (p.Arg4314=)
c.12927G>C (p.Arg4309=)
c.12924G>C (p.Arg4308=)
c.12909G>C (p.Arg4303=)
c.12939G>C (p.Arg4313=)
19g.38565276G>TCA507355659RYR1c.1352G>T
c.1334G>T
c.12942G>T (p.Arg4314=)
c.12927G>T (p.Arg4309=)
c.12924G>T (p.Arg4308=)
c.12909G>T (p.Arg4303=)
c.12939G>T (p.Arg4313=)
19g.38565277delCA2584909135RYR1c.1353del
c.1335del
c.12943del (p.Arg4315GlyfsTer26)
c.12928del (p.Arg4310GlyfsTer26)
c.12925del (p.Arg4309GlyfsTer26)
c.12910del (p.Arg4304GlyfsTer26)
c.12940del (p.Arg4314GlyfsTer26)
gnomAD v4
19g.38565277C>ACA507355660RYR1c.1353C>A
c.1335C>A
c.12943C>A (p.Arg4315=)
c.12928C>A (p.Arg4310=)
c.12925C>A (p.Arg4309=)
c.12910C>A (p.Arg4304=)
c.12940C>A (p.Arg4314=)
gnomAD v4
19g.38565277C=CA2335084778RYR1c.1353C=
c.1335C=
c.12943C= (p.Arg4315=)
c.12928C= (p.Arg4310=)
c.12925C= (p.Arg4309=)
c.12910C= (p.Arg4304=)
c.12940C= (p.Arg4314=)
19g.38565277C>GCA405672683RYR1c.1353C>G
c.1335C>G
c.12943C>G (p.Arg4315Gly)
c.12928C>G (p.Arg4310Gly)
c.12925C>G (p.Arg4309Gly)
c.12910C>G (p.Arg4304Gly)
c.12940C>G (p.Arg4314Gly)
19g.38565277C>TCA405672686RYR1c.1353C>T
c.1335C>T
c.12943C>T (p.Arg4315Trp)
c.12928C>T (p.Arg4310Trp)
c.12925C>T (p.Arg4309Trp)
c.12910C>T (p.Arg4304Trp)
c.12940C>T (p.Arg4314Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565278G>ACA308109374RYR1c.1354G>A
c.1336G>A
c.12944G>A (p.Arg4315Gln)
c.12929G>A (p.Arg4310Gln)
c.12926G>A (p.Arg4309Gln)
c.12911G>A (p.Arg4304Gln)
c.12941G>A (p.Arg4314Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565278G>CCA405672688RYR1c.1354G>C
c.1336G>C
c.12944G>C (p.Arg4315Pro)
c.12929G>C (p.Arg4310Pro)
c.12926G>C (p.Arg4309Pro)
c.12911G>C (p.Arg4304Pro)
c.12941G>C (p.Arg4314Pro)
gnomAD v4
19g.38565278G=CA2335084779RYR1c.1354G=
c.1336G=
c.12944G= (p.Arg4315=)
c.12929G= (p.Arg4310=)
c.12926G= (p.Arg4309=)
c.12911G= (p.Arg4304=)
c.12941G= (p.Arg4314=)
19g.38565278G>TCA405672687RYR1c.1354G>T
c.1336G>T
c.12944G>T (p.Arg4315Leu)
c.12929G>T (p.Arg4310Leu)
c.12926G>T (p.Arg4309Leu)
c.12911G>T (p.Arg4304Leu)
c.12941G>T (p.Arg4314Leu)
ClinVar dbSNP gnomAD v4
19g.38565279G>ACA507355667RYR1c.1355G>A
c.1337G>A
c.12945G>A (p.Arg4315=)
c.12930G>A (p.Arg4310=)
c.12927G>A (p.Arg4309=)
c.12912G>A (p.Arg4304=)
c.12942G>A (p.Arg4314=)
gnomAD v4
19g.38565279G>CCA507355669RYR1c.1355G>C
c.1337G>C
c.12945G>C (p.Arg4315=)
c.12930G>C (p.Arg4310=)
c.12927G>C (p.Arg4309=)
c.12912G>C (p.Arg4304=)
c.12942G>C (p.Arg4314=)
19g.38565279G>TCA507355672RYR1c.1355G>T
c.1337G>T
c.12945G>T (p.Arg4315=)
c.12930G>T (p.Arg4310=)
c.12927G>T (p.Arg4309=)
c.12912G>T (p.Arg4304=)
c.12942G>T (p.Arg4314=)
gnomAD v4
19g.38565280C>ACA405672689RYR1c.1356C>A
c.1338C>A
c.12946C>A (p.Arg4316Ser)
c.12931C>A (p.Arg4311Ser)
c.12928C>A (p.Arg4310Ser)
c.12913C>A (p.Arg4305Ser)
c.12943C>A (p.Arg4315Ser)
gnomAD v4
19g.38565280C>GCA405672690RYR1c.1356C>G
c.1338C>G
c.12946C>G (p.Arg4316Gly)
c.12931C>G (p.Arg4311Gly)
c.12928C>G (p.Arg4310Gly)
c.12913C>G (p.Arg4305Gly)
c.12943C>G (p.Arg4315Gly)
19g.38565280C>TCA405672691RYR1c.1356C>T
c.1338C>T
c.12946C>T (p.Arg4316Cys)
c.12931C>T (p.Arg4311Cys)
c.12928C>T (p.Arg4310Cys)
c.12913C>T (p.Arg4305Cys)
c.12943C>T (p.Arg4315Cys)
gnomAD v4
19g.38565281G>ACA308109382RYR1c.1357G>A
c.1339G>A
c.12947G>A (p.Arg4316His)
c.12932G>A (p.Arg4311His)
c.12929G>A (p.Arg4310His)
c.12914G>A (p.Arg4305His)
c.12944G>A (p.Arg4315His)
dbSNP gnomAD v3 gnomAD v4
19g.38565281G>CCA405672692RYR1c.1357G>C
c.1339G>C
c.12947G>C (p.Arg4316Pro)
c.12932G>C (p.Arg4311Pro)
c.12929G>C (p.Arg4310Pro)
c.12914G>C (p.Arg4305Pro)
c.12944G>C (p.Arg4315Pro)
19g.38565281G=CA2335084780RYR1c.1357G=
c.1339G=
c.12947G= (p.Arg4316=)
c.12932G= (p.Arg4311=)
c.12929G= (p.Arg4310=)
c.12914G= (p.Arg4305=)
c.12944G= (p.Arg4315=)
19g.38565281G>TCA405672694RYR1c.1357G>T
c.1339G>T
c.12947G>T (p.Arg4316Leu)
c.12932G>T (p.Arg4311Leu)
c.12929G>T (p.Arg4310Leu)
c.12914G>T (p.Arg4305Leu)
c.12944G>T (p.Arg4315Leu)
gnomAD v4
19g.38565281_38565283delCA2814346163RYR1c.1357_1359del
c.1339_1341del
c.12947_12949del (p.Arg4316_Val4317delinsLeu)
c.12932_12934del (p.Arg4311_Val4312delinsLeu)
c.12929_12931del (p.Arg4310_Val4311delinsLeu)
c.12914_12916del (p.Arg4305_Val4306delinsLeu)
c.12944_12946del (p.Arg4315_Val4316delinsLeu)
19g.38565282C>ACA507355678RYR1c.1358C>A
c.1340C>A
c.12948C>A (p.Arg4316=)
c.12933C>A (p.Arg4311=)
c.12930C>A (p.Arg4310=)
c.12915C>A (p.Arg4305=)
c.12945C>A (p.Arg4315=)
gnomAD v4
19g.38565282C=CA2335084781RYR1c.1358C=
c.1340C=
c.12948C= (p.Arg4316=)
c.12933C= (p.Arg4311=)
c.12930C= (p.Arg4310=)
c.12915C= (p.Arg4305=)
c.12945C= (p.Arg4315=)
19g.38565282C>GCA507355680RYR1c.1358C>G
c.1340C>G
c.12948C>G (p.Arg4316=)
c.12933C>G (p.Arg4311=)
c.12930C>G (p.Arg4310=)
c.12915C>G (p.Arg4305=)
c.12945C>G (p.Arg4315=)
19g.38565282C>TCA507355679RYR1c.1358C>T
c.1340C>T
c.12948C>T (p.Arg4316=)
c.12933C>T (p.Arg4311=)
c.12930C>T (p.Arg4310=)
c.12915C>T (p.Arg4305=)
c.12945C>T (p.Arg4315=)
dbSNP gnomAD v4
19g.38565282_38565283delinsGTCA2580097187RYR1c.1358_1359delinsGT
c.1340_1341delinsGT
c.12948_12949delinsGT (p.Val4317Leu)
c.12933_12934delinsGT (p.Val4312Leu)
c.12930_12931delinsGT (p.Val4311Leu)
c.12915_12916delinsGT (p.Val4306Leu)
c.12945_12946delinsGT (p.Val4316Leu)
ClinVar
19g.38565283G>ACA308109394RYR1c.1359G>A
c.1341G>A
c.12949G>A (p.Val4317Met)
c.12934G>A (p.Val4312Met)
c.12931G>A (p.Val4311Met)
c.12916G>A (p.Val4306Met)
c.12946G>A (p.Val4316Met)
dbSNP gnomAD v3 gnomAD v4
19g.38565283G>CCA405672696RYR1c.1359G>C
c.1341G>C
c.12949G>C (p.Val4317Leu)
c.12934G>C (p.Val4312Leu)
c.12931G>C (p.Val4311Leu)
c.12916G>C (p.Val4306Leu)
c.12946G>C (p.Val4316Leu)
gnomAD v4
19g.38565283G=CA2335084783RYR1c.1359G=
c.1341G=
c.12949G= (p.Val4317=)
c.12934G= (p.Val4312=)
c.12931G= (p.Val4311=)
c.12916G= (p.Val4306=)
c.12946G= (p.Val4316=)
19g.38565283G>TCA405672697RYR1c.1359G>T
c.1341G>T
c.12949G>T (p.Val4317Leu)
c.12934G>T (p.Val4312Leu)
c.12931G>T (p.Val4311Leu)
c.12916G>T (p.Val4306Leu)
c.12946G>T (p.Val4316Leu)
19g.38565283_38565292delinsGTGCGGCGGCCA2335084782RYR1c.1359_1368delinsGTGCGGCGGC
c.1341_1350delinsGTGCGGCGGC
c.12949_12958delinsGTGCGGCGGC (p.Val4317=)
c.12934_12943delinsGTGCGGCGGC (p.Val4312=)
c.12931_12940delinsGTGCGGCGGC (p.Val4311=)
c.12916_12925delinsGTGCGGCGGC (p.Val4306=)
c.12946_12955delinsGTGCGGCGGC (p.Val4316=)
19g.38565284T>ACA405672698RYR1c.1360T>A
c.1342T>A
c.12950T>A (p.Val4317Glu)
c.12935T>A (p.Val4312Glu)
c.12932T>A (p.Val4311Glu)
c.12917T>A (p.Val4306Glu)
c.12947T>A (p.Val4316Glu)
19g.38565284T>CCA405672699RYR1c.1360T>C
c.1342T>C
c.12950T>C (p.Val4317Ala)
c.12935T>C (p.Val4312Ala)
c.12932T>C (p.Val4311Ala)
c.12917T>C (p.Val4306Ala)
c.12947T>C (p.Val4316Ala)
gnomAD v4
19g.38565284T>GCA405672700RYR1c.1360T>G
c.1342T>G
c.12950T>G (p.Val4317Gly)
c.12935T>G (p.Val4312Gly)
c.12932T>G (p.Val4311Gly)
c.12917T>G (p.Val4306Gly)
c.12947T>G (p.Val4316Gly)
19g.38565294_38565302dupCA024023RYR1c.1370_1378dup
c.1352_1360dup
c.12960_12968dup (p.Leu4323_Thr4324insArgArgLeu)
c.12945_12953dup (p.Leu4318_Thr4319insArgArgLeu)
c.12942_12950dup (p.Leu4317_Thr4318insArgArgLeu)
c.12927_12935dup (p.Leu4312_Thr4313insArgArgLeu)
c.12957_12965dup (p.Leu4322_Thr4323insArgArgLeu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565294_38565302delCA308109404RYR1c.1370_1378del
c.1352_1360del
c.12960_12968del (p.Arg4321_Leu4323del)
c.12945_12953del (p.Arg4316_Leu4318del)
c.12942_12950del (p.Arg4315_Leu4317del)
c.12927_12935del (p.Arg4310_Leu4312del)
c.12957_12965del (p.Arg4320_Leu4322del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565285G>ACA308109406RYR1c.1361G>A
c.1343G>A
c.12951G>A (p.Val4317=)
c.12936G>A (p.Val4312=)
c.12933G>A (p.Val4311=)
c.12918G>A (p.Val4306=)
c.12948G>A (p.Val4316=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565285G>CCA507355684RYR1c.1361G>C
c.1343G>C
c.12951G>C (p.Val4317=)
c.12936G>C (p.Val4312=)
c.12933G>C (p.Val4311=)
c.12918G>C (p.Val4306=)
c.12948G>C (p.Val4316=)
19g.38565285G=CA2335084784RYR1c.1361G=
c.1343G=
c.12951G= (p.Val4317=)
c.12936G= (p.Val4312=)
c.12933G= (p.Val4311=)
c.12918G= (p.Val4306=)
c.12948G= (p.Val4316=)
19g.38565285G>TCA507355685RYR1c.1361G>T
c.1343G>T
c.12951G>T (p.Val4317=)
c.12936G>T (p.Val4312=)
c.12933G>T (p.Val4311=)
c.12918G>T (p.Val4306=)
c.12948G>T (p.Val4316=)
gnomAD v4
19g.38565290_38565301dupCA2576772101RYR1c.1366_1377dup
c.1348_1359dup
c.12956_12967dup (p.Arg4322_Leu4323insArgLeuArgArg)
c.12941_12952dup (p.Arg4317_Leu4318insArgLeuArgArg)
c.12938_12949dup (p.Arg4316_Leu4317insArgLeuArgArg)
c.12923_12934dup (p.Arg4311_Leu4312insArgLeuArgArg)
c.12953_12964dup (p.Arg4321_Leu4322insArgLeuArgArg)
gnomAD v4
19g.38565286C>ACA507355686RYR1c.1362C>A
c.1344C>A
c.12952C>A (p.Arg4318=)
c.12937C>A (p.Arg4313=)
c.12934C>A (p.Arg4312=)
c.12919C>A (p.Arg4307=)
c.12949C>A (p.Arg4317=)
gnomAD v4
19g.38565286C=CA2335084785RYR1c.1362C=
c.1344C=
c.12952C= (p.Arg4318=)
c.12937C= (p.Arg4313=)
c.12934C= (p.Arg4312=)
c.12919C= (p.Arg4307=)
c.12949C= (p.Arg4317=)
19g.38565286C>GCA405672704RYR1c.1362C>G
c.1344C>G
c.12952C>G (p.Arg4318Gly)
c.12937C>G (p.Arg4313Gly)
c.12934C>G (p.Arg4312Gly)
c.12919C>G (p.Arg4307Gly)
c.12949C>G (p.Arg4317Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565286C>TCA405672702RYR1c.1362C>T
c.1344C>T
c.12952C>T (p.Arg4318Trp)
c.12937C>T (p.Arg4313Trp)
c.12934C>T (p.Arg4312Trp)
c.12919C>T (p.Arg4307Trp)
c.12949C>T (p.Arg4317Trp)
dbSNP gnomAD v4
19g.38565286_38565287insAGTCA995731594RYR1c.1362_1363insAGT
c.1344_1345insAGT
c.12952_12953insAGT (p.Arg4318delinsGlnTrp)
c.12937_12938insAGT (p.Arg4313delinsGlnTrp)
c.12934_12935insAGT (p.Arg4312delinsGlnTrp)
c.12919_12920insAGT (p.Arg4307delinsGlnTrp)
c.12949_12950insAGT (p.Arg4317delinsGlnTrp)
dbSNP gnomAD v3 gnomAD v4
19g.38565287G>ACA405672708RYR1c.1363G>A
c.1345G>A
c.12953G>A (p.Arg4318Gln)
c.12938G>A (p.Arg4313Gln)
c.12935G>A (p.Arg4312Gln)
c.12920G>A (p.Arg4307Gln)
c.12950G>A (p.Arg4317Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565287G>CCA405672711RYR1c.1363G>C
c.1345G>C
c.12953G>C (p.Arg4318Pro)
c.12938G>C (p.Arg4313Pro)
c.12935G>C (p.Arg4312Pro)
c.12920G>C (p.Arg4307Pro)
c.12950G>C (p.Arg4317Pro)
19g.38565287G=CA2335084786RYR1c.1363G=
c.1345G=
c.12953G= (p.Arg4318=)
c.12938G= (p.Arg4313=)
c.12935G= (p.Arg4312=)
c.12920G= (p.Arg4307=)
c.12950G= (p.Arg4317=)
19g.38565287G>TCA405672712RYR1c.1363G>T
c.1345G>T
c.12953G>T (p.Arg4318Leu)
c.12938G>T (p.Arg4313Leu)
c.12935G>T (p.Arg4312Leu)
c.12920G>T (p.Arg4307Leu)
c.12950G>T (p.Arg4317Leu)
19g.38565293_38565320delCA2584909136RYR1c.1369_1396del
c.1351_1378del
c.12959_12986del (p.Leu4320ProfsTer12)
c.12944_12971del (p.Leu4315ProfsTer12)
c.12941_12968del (p.Leu4314ProfsTer12)
c.12926_12953del (p.Leu4309ProfsTer12)
c.12956_12983del (p.Leu4319ProfsTer12)
gnomAD v4
19g.38565288G>ACA10642763RYR1c.1364G>A
c.1346G>A
c.12954G>A (p.Arg4318=)
c.12939G>A (p.Arg4313=)
c.12936G>A (p.Arg4312=)
c.12921G>A (p.Arg4307=)
c.12951G>A (p.Arg4317=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565288G>CCA507355689RYR1c.1364G>C
c.1346G>C
c.12954G>C (p.Arg4318=)
c.12939G>C (p.Arg4313=)
c.12936G>C (p.Arg4312=)
c.12921G>C (p.Arg4307=)
c.12951G>C (p.Arg4317=)
19g.38565288G=CA2335084787RYR1c.1364G=
c.1346G=
c.12954G= (p.Arg4318=)
c.12939G= (p.Arg4313=)
c.12936G= (p.Arg4312=)
c.12921G= (p.Arg4307=)
c.12951G= (p.Arg4317=)
19g.38565288G>TCA507355692RYR1c.1364G>T
c.1346G>T
c.12954G>T (p.Arg4318=)
c.12939G>T (p.Arg4313=)
c.12936G>T (p.Arg4312=)
c.12921G>T (p.Arg4307=)
c.12951G>T (p.Arg4317=)
dbSNP gnomAD v3 gnomAD v4
19g.38565288_38565303dupCA2580097188RYR1c.1364_1379dup
c.1346_1361dup
c.12954_12969dup (p.Thr4324AlafsTer?)
c.12939_12954dup (p.Thr4319AlafsTer?)
c.12936_12951dup (p.Thr4318AlafsTer?)
c.12921_12936dup (p.Thr4313AlafsTer?)
c.12951_12966dup (p.Thr4323AlafsTer?)
ClinVar
19g.38565289C>ACA507355695RYR1c.1365C>A
c.1347C>A
c.12955C>A (p.Arg4319=)
c.12940C>A (p.Arg4314=)
c.12937C>A (p.Arg4313=)
c.12922C>A (p.Arg4308=)
c.12952C>A (p.Arg4318=)
gnomAD v4
19g.38565289C=CA2335084788RYR1c.1365C=
c.1347C=
c.12955C= (p.Arg4319=)
c.12940C= (p.Arg4314=)
c.12937C= (p.Arg4313=)
c.12922C= (p.Arg4308=)
c.12952C= (p.Arg4318=)
19g.38565289C>GCA405672715RYR1c.1365C>G
c.1347C>G
c.12955C>G (p.Arg4319Gly)
c.12940C>G (p.Arg4314Gly)
c.12937C>G (p.Arg4313Gly)
c.12922C>G (p.Arg4308Gly)
c.12952C>G (p.Arg4318Gly)
19g.38565289C>TCA405672717RYR1c.1365C>T
c.1347C>T
c.12955C>T (p.Arg4319Trp)
c.12940C>T (p.Arg4314Trp)
c.12937C>T (p.Arg4313Trp)
c.12922C>T (p.Arg4308Trp)
c.12952C>T (p.Arg4318Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38565290G>ACA024020RYR1c.1366G>A
c.1348G>A
c.12956G>A (p.Arg4319Gln)
c.12941G>A (p.Arg4314Gln)
c.12938G>A (p.Arg4313Gln)
c.12923G>A (p.Arg4308Gln)
c.12953G>A (p.Arg4318Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38565290G>CCA405672720RYR1c.1366G>C
c.1348G>C
c.12956G>C (p.Arg4319Pro)
c.12941G>C (p.Arg4314Pro)
c.12938G>C (p.Arg4313Pro)
c.12923G>C (p.Arg4308Pro)
c.12953G>C (p.Arg4318Pro)
ClinVar dbSNP
19g.38565290G=CA2335084789RYR1c.1366G=
c.1348G=
c.12956G= (p.Arg4319=)
c.12941G= (p.Arg4314=)
c.12938G= (p.Arg4313=)
c.12923G= (p.Arg4308=)
c.12953G= (p.Arg4318=)
19g.38565290G>TCA405672721RYR1c.1366G>T
c.1348G>T
c.12956G>T (p.Arg4319Leu)
c.12941G>T (p.Arg4314Leu)
c.12938G>T (p.Arg4313Leu)
c.12923G>T (p.Arg4308Leu)
c.12953G>T (p.Arg4318Leu)
19g.38565291G>ACA507355696RYR1c.1367G>A
c.1349G>A
c.12957G>A (p.Arg4319=)
c.12942G>A (p.Arg4314=)
c.12939G>A (p.Arg4313=)
c.12924G>A (p.Arg4308=)
c.12954G>A (p.Arg4318=)
ClinVar dbSNP gnomAD v4
19g.38565291G>CCA507355697RYR1c.1367G>C
c.1349G>C
c.12957G>C (p.Arg4319=)
c.12942G>C (p.Arg4314=)
c.12939G>C (p.Arg4313=)
c.12924G>C (p.Arg4308=)
c.12954G>C (p.Arg4318=)
19g.38565291G=CA2335084790RYR1c.1367G=
c.1349G=
c.12957G= (p.Arg4319=)
c.12942G= (p.Arg4314=)
c.12939G= (p.Arg4313=)
c.12924G= (p.Arg4308=)
c.12954G= (p.Arg4318=)
19g.38565291G>TCA507355698RYR1c.1367G>T
c.1349G>T
c.12957G>T (p.Arg4319=)
c.12942G>T (p.Arg4314=)
c.12939G>T (p.Arg4313=)
c.12924G>T (p.Arg4308=)
c.12954G>T (p.Arg4318=)
19g.38565292C>ACA405672724RYR1c.1368C>A
c.1350C>A
c.12958C>A (p.Leu4320Met)
c.12943C>A (p.Leu4315Met)
c.12940C>A (p.Leu4314Met)
c.12925C>A (p.Leu4309Met)
c.12955C>A (p.Leu4319Met)
19g.38565292C=CA2335084791RYR1c.1368C=
c.1350C=
c.12958C= (p.Leu4320=)
c.12943C= (p.Leu4315=)
c.12940C= (p.Leu4314=)
c.12925C= (p.Leu4309=)
c.12955C= (p.Leu4319=)
19g.38565292C>GCA405672726RYR1c.1368C>G
c.1350C>G
c.12958C>G (p.Leu4320Val)
c.12943C>G (p.Leu4315Val)
c.12940C>G (p.Leu4314Val)
c.12925C>G (p.Leu4309Val)
c.12955C>G (p.Leu4319Val)
dbSNP gnomAD v4
19g.38565292C>TCA507355699RYR1c.1368C>T
c.1350C>T
c.12958C>T (p.Leu4320=)
c.12943C>T (p.Leu4315=)
c.12940C>T (p.Leu4314=)
c.12925C>T (p.Leu4309=)
c.12955C>T (p.Leu4319=)
gnomAD v4
19g.38565292_38565293insGCGCA2584909137RYR1c.1368_1369insGCG
c.1350_1351insGCG
c.12958_12959insGCG (p.Leu4320delinsArgVal)
c.12943_12944insGCG (p.Leu4315delinsArgVal)
c.12940_12941insGCG (p.Leu4314delinsArgVal)
c.12925_12926insGCG (p.Leu4309delinsArgVal)
c.12955_12956insGCG (p.Leu4319delinsArgVal)
gnomAD v4
19g.38565293T>ACA405672731RYR1c.1369T>A
c.1351T>A
c.12959T>A (p.Leu4320Gln)
c.12944T>A (p.Leu4315Gln)
c.12941T>A (p.Leu4314Gln)
c.12926T>A (p.Leu4309Gln)
c.12956T>A (p.Leu4319Gln)
gnomAD v4
19g.38565293T>CCA405672729RYR1c.1369T>C
c.1351T>C
c.12959T>C (p.Leu4320Pro)
c.12944T>C (p.Leu4315Pro)
c.12941T>C (p.Leu4314Pro)
c.12926T>C (p.Leu4309Pro)
c.12956T>C (p.Leu4319Pro)
dbSNP gnomAD v4
19g.38565293T>GCA405672734RYR1c.1369T>G
c.1351T>G
c.12959T>G (p.Leu4320Arg)
c.12944T>G (p.Leu4315Arg)
c.12941T>G (p.Leu4314Arg)
c.12926T>G (p.Leu4309Arg)
c.12956T>G (p.Leu4319Arg)
dbSNP gnomAD v3 gnomAD v4
19g.38565293T=CA2335084792RYR1c.1369T=
c.1351T=
c.12959T= (p.Leu4320=)
c.12944T= (p.Leu4315=)
c.12941T= (p.Leu4314=)
c.12926T= (p.Leu4309=)
c.12956T= (p.Leu4319=)
19g.38565294G>ACA507355701RYR1c.1370G>A
c.1352G>A
c.12960G>A (p.Leu4320=)
c.12945G>A (p.Leu4315=)
c.12942G>A (p.Leu4314=)
c.12927G>A (p.Leu4309=)
c.12957G>A (p.Leu4319=)
gnomAD v4
19g.38565294G>CCA507355702RYR1c.1370G>C
c.1352G>C
c.12960G>C (p.Leu4320=)
c.12945G>C (p.Leu4315=)
c.12942G>C (p.Leu4314=)
c.12927G>C (p.Leu4309=)
c.12957G>C (p.Leu4319=)
19g.38565294G>TCA507355703RYR1c.1370G>T
c.1352G>T
c.12960G>T (p.Leu4320=)
c.12945G>T (p.Leu4315=)
c.12942G>T (p.Leu4314=)
c.12927G>T (p.Leu4309=)
c.12957G>T (p.Leu4319=)
gnomAD v4

Number of alleles fetched