Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38565161_38565222del | CA2584909119 | RYR1 | c.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 |
19 | g.38565178_38565210del | CA2584909122 | RYR1 | c.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 |
19 | g.38565195_38565212dup | CA995731487 | RYR1 | c.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 |
19 | g.38565202_38565213del | CA2576772098 | RYR1 | c.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 |
19 | g.38565200_38565209delinsCGGCGGCGGG | CA2335084726 | RYR1 | c.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=) | |
19 | g.38565205_38565213del | CA882058564 | RYR1 | c.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 |
19 | g.38565202_38565214delinsGCGGCGGGGGCGA | CA2335084729 | RYR1 | c.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=) | |
19 | g.38565208_38565219dup | CA995731518 | RYR1 | c.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 |
19 | g.38565208_38565219del | CA882058575 | RYR1 | c.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 |
19 | g.38565206_38565209del | CA2576772099 | RYR1 | c.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?) | |
19 | g.38565208_38565213dup | CA2573156318 | RYR1 | c.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 |
19 | g.38565211dup | CA2584909128 | RYR1 | c.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 |
19 | g.38565211del | CA2335084733 | RYR1 | c.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 |
19 | g.38565209G>A | CA405672413 | RYR1 | c.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 |
19 | g.38565209G>C | CA405672416 | RYR1 | c.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 |
19 | g.38565209G= | CA2335084737 | RYR1 | c.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=) | |
19 | g.38565209G>T | CA405672418 | RYR1 | c.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 |
19 | g.38565212_38565223dup | CA2335084736 | RYR1 | c.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 |
19 | g.38565210G>A | CA507355503 | RYR1 | c.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=) | |
19 | g.38565210G>C | CA507355501 | RYR1 | c.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 |
19 | g.38565210G= | CA2335084738 | RYR1 | c.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=) | |
19 | g.38565210G>T | CA507355502 | RYR1 | c.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 |
19 | g.38565211G>A | CA405672421 | RYR1 | c.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 |
19 | g.38565211G>C | CA405672423 | RYR1 | c.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) | |
19 | g.38565211G>T | CA405672424 | RYR1 | c.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 |
19 | g.38565212C>A | CA405672427 | RYR1 | c.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 |
19 | g.38565212C= | CA2335084739 | RYR1 | c.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=) | |
19 | g.38565212C>G | CA405672430 | RYR1 | c.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) | |
19 | g.38565212C>T | CA405672432 | RYR1 | c.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 |
19 | g.38565213G>A | CA507355504 | RYR1 | c.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 |
19 | g.38565213G>C | CA024015 | RYR1 | c.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 |
19 | g.38565213G= | CA2335084740 | RYR1 | c.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=) | |
19 | g.38565213G>T | CA507355505 | RYR1 | c.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=) | |
19 | g.38565214A= | CA2335084741 | RYR1 | c.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=) | |
19 | g.38565214A>C | CA405672433 | RYR1 | c.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) | |
19 | g.38565214A>G | CA308109322 | RYR1 | c.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 |
19 | g.38565214A>T | CA405672434 | RYR1 | c.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) | |
19 | g.38565215C>A | CA405672435 | RYR1 | c.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 |
19 | g.38565215C= | CA2335084742 | RYR1 | c.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=) | |
19 | g.38565215C>G | CA405672436 | RYR1 | c.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) | |
19 | g.38565215C>T | CA024017 | RYR1 | c.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 |
19 | g.38565216_38565217insCCG | CA920105907 | RYR1 | c.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 |
19 | g.38565216G>A | CA507355508 | RYR1 | c.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 |
19 | g.38565216G>C | CA080774 | RYR1 | c.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=) | |
19 | g.38565216G= | CA2335084743 | RYR1 | c.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=) | |
19 | g.38565216G>T | CA507355509 | RYR1 | c.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=) | |
19 | g.38565217G>A | CA405672437 | RYR1 | c.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 |
19 | g.38565217G>C | CA405672439 | RYR1 | c.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) | |
19 | g.38565217G>T | CA405672442 | RYR1 | c.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) | |
19 | g.38565218C>A | CA405672443 | RYR1 | c.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) | |
19 | g.38565218C= | CA2335084744 | RYR1 | c.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=) | |
19 | g.38565218C>G | CA405672445 | RYR1 | c.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 |
19 | g.38565218C>T | CA024018 | RYR1 | c.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 |
19 | g.38565219G>A | CA507355513 | RYR1 | c.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 |
19 | g.38565219G>C | CA507355514 | RYR1 | c.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=) | |
19 | g.38565219G= | CA2335084745 | RYR1 | c.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=) | |
19 | g.38565219G>T | CA507355515 | RYR1 | c.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 |
19 | g.38565220C>A | CA507355517 | RYR1 | c.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 |
19 | g.38565220C= | CA2335084746 | RYR1 | c.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=) | |
19 | g.38565220C>G | CA405672449 | RYR1 | c.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 |
19 | g.38565220C>T | CA308109332 | RYR1 | c.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 |
19 | g.38565224_38565244del | CA2580097181 | RYR1 | c.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 |
19 | g.38565221G>A | CA405672455 | RYR1 | c.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 |
19 | g.38565221G>C | CA405672454 | RYR1 | c.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 |
19 | g.38565221G= | CA2335084747 | RYR1 | c.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=) | |
19 | g.38565221G>T | CA405672452 | RYR1 | c.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 |
19 | g.38565222G>A | CA507355519 | RYR1 | c.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 |
19 | g.38565222G>C | CA10648658 | RYR1 | c.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 |
19 | g.38565222G= | CA2335084748 | RYR1 | c.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=) | |
19 | g.38565222G>T | CA507355522 | RYR1 | c.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 |
19 | g.38565223G>A | CA405672458 | RYR1 | c.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 |
19 | g.38565223G>C | CA405672459 | RYR1 | c.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 |
19 | g.38565223G= | CA2335084749 | RYR1 | c.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=) | |
19 | g.38565223G>T | CA405672460 | RYR1 | c.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) | |
19 | g.38565224T>A | CA405672462 | RYR1 | c.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) | |
19 | g.38565224T>C | CA405672466 | RYR1 | c.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 |
19 | g.38565224T>G | CA405672468 | RYR1 | c.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 |
19 | g.38565225T>A | CA507355524 | RYR1 | c.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=) | |
19 | g.38565225T>C | CA507355527 | RYR1 | c.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 |
19 | g.38565225T>G | CA507355529 | RYR1 | c.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 |
19 | g.38565225_38565242del | CA2584909129 | RYR1 | c.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 |
19 | g.38565226G>A | CA405672469 | RYR1 | c.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 |
19 | g.38565226G>C | CA405672470 | RYR1 | c.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) | |
19 | g.38565226G= | CA2335084750 | RYR1 | c.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=) | |
19 | g.38565226G>T | CA405672473 | RYR1 | c.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 |
19 | g.38565227T>A | CA405672474 | RYR1 | c.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) | |
19 | g.38565227T>C | CA405672476 | RYR1 | c.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 |
19 | g.38565227T>G | CA405672478 | RYR1 | c.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) | |
19 | g.38565227dup | CA2335084751 | RYR1 | c.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 |
19 | g.38565228G>A | CA507355536 | RYR1 | c.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=) | |
19 | g.38565228G>C | CA507355537 | RYR1 | c.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 |
19 | g.38565228G= | CA2335084752 | RYR1 | c.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=) | |
19 | g.38565228G>T | CA507355538 | RYR1 | c.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=) | |
19 | g.38565229del | CA2584909130 | RYR1 | c.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 |
19 | g.38565229G>A | CA405672485 | RYR1 | c.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) | |
19 | g.38565229G>C | CA405672483 | RYR1 | c.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 |
19 | g.38565229G= | CA2335084753 | RYR1 | c.1305G= c.1287G= c.12895G= (p.Ala4299=) c.12880G= (p.Ala4294=) c.12877G= (p.Ala4293=) c.12862G= (p.Ala4288=) c.12892G= (p.Ala4298=) | |
19 | g.38565229G>T | CA405672481 | RYR1 | c.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 |
19 | g.38565230C>A | CA405672491 | RYR1 | c.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 |
19 | g.38565230C= | CA2335084754 | RYR1 | c.1306C= c.1288C= c.12896C= (p.Ala4299=) c.12881C= (p.Ala4294=) c.12878C= (p.Ala4293=) c.12863C= (p.Ala4288=) c.12893C= (p.Ala4298=) | |
19 | g.38565230C>G | CA405672487 | RYR1 | c.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) | |
19 | g.38565230C>T | CA405672488 | RYR1 | c.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 |
19 | g.38565231G>A | CA507355543 | RYR1 | c.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 |
19 | g.38565231G>C | CA507355544 | RYR1 | c.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=) | |
19 | g.38565231G= | CA2335084755 | RYR1 | c.1307G= c.1289G= c.12897G= (p.Ala4299=) c.12882G= (p.Ala4294=) c.12879G= (p.Ala4293=) c.12864G= (p.Ala4288=) c.12894G= (p.Ala4298=) | |
19 | g.38565231G>T | CA507355545 | RYR1 | c.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 |
19 | g.38565231_38565232insCC | CA2529490714 | RYR1 | c.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?) | |
19 | g.38565232G>A | CA405672493 | RYR1 | c.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 |
19 | g.38565232G>C | CA405672496 | RYR1 | c.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) | |
19 | g.38565232G>T | CA405672497 | RYR1 | c.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) | |
19 | g.38565233C>A | CA405672504 | RYR1 | c.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) | |
19 | g.38565233C= | CA2335084756 | RYR1 | c.1309C= c.1291C= c.12899C= (p.Ala4300=) c.12884C= (p.Ala4295=) c.12881C= (p.Ala4294=) c.12866C= (p.Ala4289=) c.12896C= (p.Ala4299=) | |
19 | g.38565233C>G | CA405672502 | RYR1 | c.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 |
19 | g.38565233C>T | CA405672501 | RYR1 | c.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 |
19 | g.38565234C>A | CA507355551 | RYR1 | c.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=) | |
19 | g.38565234C= | CA2335084757 | RYR1 | c.1310C= c.1292C= c.12900C= (p.Ala4300=) c.12885C= (p.Ala4295=) c.12882C= (p.Ala4294=) c.12867C= (p.Ala4289=) c.12897C= (p.Ala4299=) | |
19 | g.38565234C>G | CA507355552 | RYR1 | c.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=) | |
19 | g.38565234C>T | CA507355553 | RYR1 | c.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 |
19 | g.38565235G>A | CA405672506 | RYR1 | c.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 |
19 | g.38565235G>C | CA405672508 | RYR1 | c.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 |
19 | g.38565235G= | CA2335084758 | RYR1 | c.1311G= c.1293G= c.12901G= (p.Ala4301=) c.12886G= (p.Ala4296=) c.12883G= (p.Ala4295=) c.12868G= (p.Ala4290=) c.12898G= (p.Ala4300=) | |
19 | g.38565235G>T | CA405672509 | RYR1 | c.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 |
19 | g.38565236C>A | CA405672511 | RYR1 | c.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 |
19 | g.38565236C= | CA2335084759 | RYR1 | c.1312C= c.1294C= c.12902C= (p.Ala4301=) c.12887C= (p.Ala4296=) c.12884C= (p.Ala4295=) c.12869C= (p.Ala4290=) c.12899C= (p.Ala4300=) | |
19 | g.38565236C>G | CA405672514 | RYR1 | c.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 |
19 | g.38565236C>T | CA405672520 | RYR1 | c.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 |
19 | g.38565237A>C | CA507355556 | RYR1 | c.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=) | |
19 | g.38565237A>G | CA507355557 | RYR1 | c.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 |
19 | g.38565237A>T | CA507355558 | RYR1 | c.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 |
19 | g.38565238G>A | CA405672524 | RYR1 | c.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 |
19 | g.38565238G>C | CA405672526 | RYR1 | c.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) | |
19 | g.38565238G>T | CA405672525 | RYR1 | c.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) | |
19 | g.38565239G>A | CA405672527 | RYR1 | c.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 |
19 | g.38565239G>C | CA405672528 | RYR1 | c.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) | |
19 | g.38565239G>T | CA405672529 | RYR1 | c.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 |
19 | g.38565240C>A | CA507355564 | RYR1 | c.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 |
19 | g.38565240C>G | CA507355566 | RYR1 | c.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=) | |
19 | g.38565240C>T | CA507355565 | RYR1 | c.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 |
19 | g.38565241C>A | CA507355569 | RYR1 | c.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 |
19 | g.38565241C= | CA2335084760 | RYR1 | c.1317C= c.1299C= c.12907C= (p.Arg4303=) c.12892C= (p.Arg4298=) c.12889C= (p.Arg4297=) c.12874C= (p.Arg4292=) c.12904C= (p.Arg4302=) | |
19 | g.38565241C>G | CA308109361 | RYR1 | c.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 |
19 | g.38565241C>T | CA405672533 | RYR1 | c.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 |
19 | g.38565242G>A | CA405672535 | RYR1 | c.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 |
19 | g.38565242G>C | CA405672538 | RYR1 | c.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) | |
19 | g.38565242G= | CA2335084761 | RYR1 | c.1318G= c.1300G= c.12908G= (p.Arg4303=) c.12893G= (p.Arg4298=) c.12890G= (p.Arg4297=) c.12875G= (p.Arg4292=) c.12905G= (p.Arg4302=) | |
19 | g.38565242G>T | CA405672539 | RYR1 | c.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 |
19 | g.38565244del | CA2814346152 | RYR1 | c.1320del c.1302del c.12910del (p.Ala4304ProfsTer?) c.12895del (p.Ala4299ProfsTer?) c.12892del (p.Ala4298ProfsTer?) c.12877del (p.Ala4293ProfsTer?) c.12907del (p.Ala4303ProfsTer?) | |
19 | g.38565243G>A | CA507355572 | RYR1 | c.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 |
19 | g.38565243G>C | CA507355573 | RYR1 | c.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 |
19 | g.38565243G>T | CA507355574 | RYR1 | c.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=) | |
19 | g.38565244G>A | CA308109364 | RYR1 | c.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 |
19 | g.38565244G>C | CA405672542 | RYR1 | c.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) | |
19 | g.38565244G= | CA2335084762 | RYR1 | c.1320G= c.1302G= c.12910G= (p.Ala4304=) c.12895G= (p.Ala4299=) c.12892G= (p.Ala4298=) c.12877G= (p.Ala4293=) c.12907G= (p.Ala4303=) | |
19 | g.38565244G>T | CA405672544 | RYR1 | c.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 |
19 | g.38565245C>A | CA405672551 | RYR1 | c.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 |
19 | g.38565245C>G | CA405672550 | RYR1 | c.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) | |
19 | g.38565245C>T | CA405672547 | RYR1 | c.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 |
19 | g.38565247del | CA2584909131 | RYR1 | c.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 |
19 | g.38565246C>A | CA507355579 | RYR1 | c.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=) | |
19 | g.38565246C= | CA2335084763 | RYR1 | c.1322C= c.1304C= c.12912C= (p.Ala4304=) c.12897C= (p.Ala4299=) c.12894C= (p.Ala4298=) c.12879C= (p.Ala4293=) c.12909C= (p.Ala4303=) | |
19 | g.38565246C>G | CA507355580 | RYR1 | c.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=) | |
19 | g.38565246C>T | CA507355581 | RYR1 | c.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 |
19 | g.38565247C>A | CA405672553 | RYR1 | c.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) | |
19 | g.38565247C>G | CA405672555 | RYR1 | c.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) | |
19 | g.38565247C>T | CA507355583 | RYR1 | c.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 |
19 | g.38565248T>A | CA405672557 | RYR1 | c.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) | |
19 | g.38565248T>C | CA405672559 | RYR1 | c.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 |
19 | g.38565248T>G | CA405672562 | RYR1 | c.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 |
19 | g.38565248T= | CA2335084764 | RYR1 | c.1324T= c.1306T= c.12914T= (p.Leu4305=) c.12899T= (p.Leu4300=) c.12896T= (p.Leu4299=) c.12881T= (p.Leu4294=) c.12911T= (p.Leu4304=) | |
19 | g.38565249G>A | CA507355585 | RYR1 | c.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 |
19 | g.38565249G>C | CA507355586 | RYR1 | c.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=) | |
19 | g.38565249G>T | CA507355587 | RYR1 | c.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=) | |
19 | g.38565250C>A | CA507355589 | RYR1 | c.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 |
19 | g.38565250C= | CA2335084765 | RYR1 | c.1326C= c.1308C= c.12916C= (p.Arg4306=) c.12901C= (p.Arg4301=) c.12898C= (p.Arg4300=) c.12883C= (p.Arg4295=) c.12913C= (p.Arg4305=) | |
19 | g.38565250C>G | CA405672563 | RYR1 | c.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) | |
19 | g.38565250C>T | CA405672565 | RYR1 | c.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 |
19 | g.38565251G>A | CA405672567 | RYR1 | c.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 |
19 | g.38565251G>C | CA405672570 | RYR1 | c.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) | |
19 | g.38565251G>T | CA405672572 | RYR1 | c.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) | |
19 | g.38565252A>C | CA507355594 | RYR1 | c.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=) | |
19 | g.38565252A>G | CA507355596 | RYR1 | c.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 |
19 | g.38565252A>T | CA507355595 | RYR1 | c.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=) | |
19 | g.38565253G>A | CA405672574 | RYR1 | c.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) | |
19 | g.38565253G>C | CA405672575 | RYR1 | c.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 |
19 | g.38565253G= | CA2335084766 | RYR1 | c.1329G= c.1311G= c.12919G= (p.Gly4307=) c.12904G= (p.Gly4302=) c.12901G= (p.Gly4301=) c.12886G= (p.Gly4296=) c.12916G= (p.Gly4306=) | |
19 | g.38565253G>T | CA405672577 | RYR1 | c.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 |
19 | g.38565254G>A | CA405672584 | RYR1 | c.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 |
19 | g.38565254G>C | CA405672583 | RYR1 | c.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 |
19 | g.38565254G= | CA2335084767 | RYR1 | c.1330G= c.1312G= c.12920G= (p.Gly4307=) c.12905G= (p.Gly4302=) c.12902G= (p.Gly4301=) c.12887G= (p.Gly4296=) c.12917G= (p.Gly4306=) | |
19 | g.38565254G>T | CA405672580 | RYR1 | c.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 |
19 | g.38565255C>A | CA507355602 | RYR1 | c.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 |
19 | g.38565255C= | CA2335084768 | RYR1 | c.1331C= c.1313C= c.12921C= (p.Gly4307=) c.12906C= (p.Gly4302=) c.12903C= (p.Gly4301=) c.12888C= (p.Gly4296=) c.12918C= (p.Gly4306=) | |
19 | g.38565255C>G | CA507355603 | RYR1 | c.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=) | |
19 | g.38565255C>T | CA507355605 | RYR1 | c.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 |
19 | g.38565256C>A | CA405672587 | RYR1 | c.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 |
19 | g.38565256C= | CA2335084769 | RYR1 | c.1332C= c.1314C= c.12922C= (p.Leu4308=) c.12907C= (p.Leu4303=) c.12904C= (p.Leu4302=) c.12889C= (p.Leu4297=) c.12919C= (p.Leu4307=) | |
19 | g.38565256C>G | CA405672590 | RYR1 | c.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) | |
19 | g.38565256C>T | CA405672592 | RYR1 | c.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 |
19 | g.38565257T>A | CA405672595 | RYR1 | c.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 |
19 | g.38565257T>C | CA308109368 | RYR1 | c.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 |
19 | g.38565257T>G | CA405672597 | RYR1 | c.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) | |
19 | g.38565257T= | CA2335084770 | RYR1 | c.1333T= c.1315T= c.12923T= (p.Leu4308=) c.12908T= (p.Leu4303=) c.12905T= (p.Leu4302=) c.12890T= (p.Leu4297=) c.12920T= (p.Leu4307=) | |
19 | g.38565258C>A | CA507355610 | RYR1 | c.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 |
19 | g.38565258C>G | CA507355611 | RYR1 | c.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=) | |
19 | g.38565258C>T | CA507355612 | RYR1 | c.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 |
19 | g.38565259A>C | CA405672598 | RYR1 | c.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 |
19 | g.38565259A>G | CA405672601 | RYR1 | c.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 |
19 | g.38565259A>T | CA405672604 | RYR1 | c.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) | |
19 | g.38565259_38565260del | CA2584909132 | RYR1 | c.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 |
19 | g.38565260_38565263del | CA2576772100 | RYR1 | c.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 |
19 | g.38565260G>A | CA405672607 | RYR1 | c.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) | |
19 | g.38565260G>C | CA405672608 | RYR1 | c.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 |
19 | g.38565260G= | CA2335084771 | RYR1 | c.1336G= c.1318G= c.12926G= (p.Ser4309=) c.12911G= (p.Ser4304=) c.12908G= (p.Ser4303=) c.12893G= (p.Ser4298=) c.12923G= (p.Ser4308=) | |
19 | g.38565260G>T | CA405672611 | RYR1 | c.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 |
19 | g.38565261C>A | CA405672615 | RYR1 | c.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 |
19 | g.38565261C>G | CA405672616 | RYR1 | c.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) | |
19 | g.38565261C>T | CA507355620 | RYR1 | c.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 |
19 | g.38565262T>A | CA405672622 | RYR1 | c.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) | |
19 | g.38565262T>C | CA405672623 | RYR1 | c.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 |
19 | g.38565262T>G | CA405672619 | RYR1 | c.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) | |
19 | g.38565263A>C | CA405672625 | RYR1 | c.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 |
19 | g.38565263A>G | CA405672628 | RYR1 | c.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) | |
19 | g.38565263A>T | CA405672630 | RYR1 | c.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) | |
19 | g.38565264C>A | CA405672633 | RYR1 | c.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) | |
19 | g.38565264C>G | CA405672634 | RYR1 | c.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) | |
19 | g.38565264C>T | CA507355628 | RYR1 | c.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 |
19 | g.38565265C>A | CA405672636 | RYR1 | c.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 |
19 | g.38565265C= | CA2335084772 | RYR1 | c.1341C= c.1323C= c.12931C= (p.Arg4311=) c.12916C= (p.Arg4306=) c.12913C= (p.Arg4305=) c.12898C= (p.Arg4300=) c.12928C= (p.Arg4310=) | |
19 | g.38565265C>G | CA405672638 | RYR1 | c.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 |
19 | g.38565265C>T | CA405672640 | RYR1 | c.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 |
19 | g.38565266G>A | CA405672643 | RYR1 | c.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 |
19 | g.38565266G>C | CA405672644 | RYR1 | c.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 |
19 | g.38565266G>T | CA405672646 | RYR1 | c.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 |
19 | g.38565267C>A | CA507355633 | RYR1 | c.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 |
19 | g.38565267C>G | CA507355635 | RYR1 | c.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=) | |
19 | g.38565267C>T | CA507355637 | RYR1 | c.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 |
19 | g.38565268A>C | CA405672652 | RYR1 | c.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) | |
19 | g.38565268A>G | CA405672651 | RYR1 | c.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) | |
19 | g.38565268A>T | CA405672650 | RYR1 | c.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) | |
19 | g.38565268_38565280delinsAGCCTGCGGCGGC | CA2335084773 | RYR1 | c.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=) | |
19 | g.38565269G>A | CA405672653 | RYR1 | c.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 |
19 | g.38565269G>C | CA405672654 | RYR1 | c.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) | |
19 | g.38565269G>T | CA405672657 | RYR1 | c.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 |
19 | g.38565271_38565282del | CA882058704 | RYR1 | c.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 |
19 | g.38565270_38565290dup | CA2580097183 | RYR1 | c.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 |
19 | g.38565270C>A | CA405672658 | RYR1 | c.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 |
19 | g.38565270C= | CA2335084774 | RYR1 | c.1346C= c.1328C= c.12936C= (p.Ser4312=) c.12921C= (p.Ser4307=) c.12918C= (p.Ser4306=) c.12903C= (p.Ser4301=) c.12933C= (p.Ser4311=) | |
19 | g.38565270C>G | CA405672661 | RYR1 | c.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 |
19 | g.38565270C>T | CA507355646 | RYR1 | c.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=) | |
19 | g.38565271C>A | CA405672662 | RYR1 | c.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 |
19 | g.38565271C= | CA2335084776 | RYR1 | c.1347C= c.1329C= c.12937C= (p.Leu4313=) c.12922C= (p.Leu4308=) c.12919C= (p.Leu4307=) c.12904C= (p.Leu4302=) c.12934C= (p.Leu4312=) | |
19 | g.38565271C>G | CA405672665 | RYR1 | c.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) | |
19 | g.38565271C>T | CA507355647 | RYR1 | c.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 |
19 | g.38565271_38565283delinsCTGCGGCGGCGCG | CA2335084775 | RYR1 | c.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=) | |
19 | g.38565281_38565301dup | CA633066824 | RYR1 | c.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 |
19 | g.38565281_38565301del | CA2584909133 | RYR1 | c.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 |
19 | g.38565272T>A | CA405672666 | RYR1 | c.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 |
19 | g.38565272T>C | CA405672668 | RYR1 | c.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 |
19 | g.38565272T>G | CA405672671 | RYR1 | c.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) | |
19 | g.38565281_38565292dup | CA633066826 | RYR1 | c.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 |
19 | g.38565281_38565292del | CA633066825 | RYR1 | c.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 |
19 | g.38565273G>A | CA507355650 | RYR1 | c.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 |
19 | g.38565273G>C | CA507355652 | RYR1 | c.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=) | |
19 | g.38565273G>T | CA507355653 | RYR1 | c.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 |
19 | g.38565279_38565281del | CA2584909134 | RYR1 | c.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 |
19 | g.38565274C>A | CA507355654 | RYR1 | c.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=) | |
19 | g.38565274C= | CA2335084777 | RYR1 | c.1350C= c.1332C= c.12940C= (p.Arg4314=) c.12925C= (p.Arg4309=) c.12922C= (p.Arg4308=) c.12907C= (p.Arg4303=) c.12937C= (p.Arg4313=) | |
19 | g.38565274C>G | CA405672672 | RYR1 | c.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) | |
19 | g.38565274C>T | CA405672674 | RYR1 | c.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 |
19 | g.38565275G>A | CA405672676 | RYR1 | c.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 |
19 | g.38565275G>C | CA405672680 | RYR1 | c.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) | |
19 | g.38565275G>T | CA405672678 | RYR1 | c.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 |
19 | g.38565276G>A | CA507355657 | RYR1 | c.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 |
19 | g.38565276G>C | CA507355658 | RYR1 | c.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=) | |
19 | g.38565276G>T | CA507355659 | RYR1 | c.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=) | |
19 | g.38565277del | CA2584909135 | RYR1 | c.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 |
19 | g.38565277C>A | CA507355660 | RYR1 | c.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 |
19 | g.38565277C= | CA2335084778 | RYR1 | c.1353C= c.1335C= c.12943C= (p.Arg4315=) c.12928C= (p.Arg4310=) c.12925C= (p.Arg4309=) c.12910C= (p.Arg4304=) c.12940C= (p.Arg4314=) | |
19 | g.38565277C>G | CA405672683 | RYR1 | c.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) | |
19 | g.38565277C>T | CA405672686 | RYR1 | c.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 |
19 | g.38565278G>A | CA308109374 | RYR1 | c.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 |
19 | g.38565278G>C | CA405672688 | RYR1 | c.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 |
19 | g.38565278G= | CA2335084779 | RYR1 | c.1354G= c.1336G= c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12926G= (p.Arg4309=) c.12911G= (p.Arg4304=) c.12941G= (p.Arg4314=) | |
19 | g.38565278G>T | CA405672687 | RYR1 | c.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 |
19 | g.38565279G>A | CA507355667 | RYR1 | c.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 |
19 | g.38565279G>C | CA507355669 | RYR1 | c.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=) | |
19 | g.38565279G>T | CA507355672 | RYR1 | c.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 |
19 | g.38565280C>A | CA405672689 | RYR1 | c.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 |
19 | g.38565280C>G | CA405672690 | RYR1 | c.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) | |
19 | g.38565280C>T | CA405672691 | RYR1 | c.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 |
19 | g.38565281G>A | CA308109382 | RYR1 | c.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 |
19 | g.38565281G>C | CA405672692 | RYR1 | c.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) | |
19 | g.38565281G= | CA2335084780 | RYR1 | c.1357G= c.1339G= c.12947G= (p.Arg4316=) c.12932G= (p.Arg4311=) c.12929G= (p.Arg4310=) c.12914G= (p.Arg4305=) c.12944G= (p.Arg4315=) | |
19 | g.38565281G>T | CA405672694 | RYR1 | c.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 |
19 | g.38565281_38565283del | CA2814346163 | RYR1 | c.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) | |
19 | g.38565282C>A | CA507355678 | RYR1 | c.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 |
19 | g.38565282C= | CA2335084781 | RYR1 | c.1358C= c.1340C= c.12948C= (p.Arg4316=) c.12933C= (p.Arg4311=) c.12930C= (p.Arg4310=) c.12915C= (p.Arg4305=) c.12945C= (p.Arg4315=) | |
19 | g.38565282C>G | CA507355680 | RYR1 | c.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=) | |
19 | g.38565282C>T | CA507355679 | RYR1 | c.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 |
19 | g.38565282_38565283delinsGT | CA2580097187 | RYR1 | c.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 |
19 | g.38565283G>A | CA308109394 | RYR1 | c.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 |
19 | g.38565283G>C | CA405672696 | RYR1 | c.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 |
19 | g.38565283G= | CA2335084783 | RYR1 | c.1359G= c.1341G= c.12949G= (p.Val4317=) c.12934G= (p.Val4312=) c.12931G= (p.Val4311=) c.12916G= (p.Val4306=) c.12946G= (p.Val4316=) | |
19 | g.38565283G>T | CA405672697 | RYR1 | c.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) | |
19 | g.38565283_38565292delinsGTGCGGCGGC | CA2335084782 | RYR1 | c.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=) | |
19 | g.38565284T>A | CA405672698 | RYR1 | c.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) | |
19 | g.38565284T>C | CA405672699 | RYR1 | c.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 |
19 | g.38565284T>G | CA405672700 | RYR1 | c.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) | |
19 | g.38565294_38565302dup | CA024023 | RYR1 | c.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 |
19 | g.38565294_38565302del | CA308109404 | RYR1 | c.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 |
19 | g.38565285G>A | CA308109406 | RYR1 | c.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 |
19 | g.38565285G>C | CA507355684 | RYR1 | c.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=) | |
19 | g.38565285G= | CA2335084784 | RYR1 | c.1361G= c.1343G= c.12951G= (p.Val4317=) c.12936G= (p.Val4312=) c.12933G= (p.Val4311=) c.12918G= (p.Val4306=) c.12948G= (p.Val4316=) | |
19 | g.38565285G>T | CA507355685 | RYR1 | c.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 |
19 | g.38565290_38565301dup | CA2576772101 | RYR1 | c.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 |
19 | g.38565286C>A | CA507355686 | RYR1 | c.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 |
19 | g.38565286C= | CA2335084785 | RYR1 | c.1362C= c.1344C= c.12952C= (p.Arg4318=) c.12937C= (p.Arg4313=) c.12934C= (p.Arg4312=) c.12919C= (p.Arg4307=) c.12949C= (p.Arg4317=) | |
19 | g.38565286C>G | CA405672704 | RYR1 | c.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 |
19 | g.38565286C>T | CA405672702 | RYR1 | c.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 |
19 | g.38565286_38565287insAGT | CA995731594 | RYR1 | c.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 |
19 | g.38565287G>A | CA405672708 | RYR1 | c.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 |
19 | g.38565287G>C | CA405672711 | RYR1 | c.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) | |
19 | g.38565287G= | CA2335084786 | RYR1 | c.1363G= c.1345G= c.12953G= (p.Arg4318=) c.12938G= (p.Arg4313=) c.12935G= (p.Arg4312=) c.12920G= (p.Arg4307=) c.12950G= (p.Arg4317=) | |
19 | g.38565287G>T | CA405672712 | RYR1 | c.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) | |
19 | g.38565293_38565320del | CA2584909136 | RYR1 | c.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 |
19 | g.38565288G>A | CA10642763 | RYR1 | c.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 |
19 | g.38565288G>C | CA507355689 | RYR1 | c.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=) | |
19 | g.38565288G= | CA2335084787 | RYR1 | c.1364G= c.1346G= c.12954G= (p.Arg4318=) c.12939G= (p.Arg4313=) c.12936G= (p.Arg4312=) c.12921G= (p.Arg4307=) c.12951G= (p.Arg4317=) | |
19 | g.38565288G>T | CA507355692 | RYR1 | c.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 |
19 | g.38565288_38565303dup | CA2580097188 | RYR1 | c.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 |
19 | g.38565289C>A | CA507355695 | RYR1 | c.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 |
19 | g.38565289C= | CA2335084788 | RYR1 | c.1365C= c.1347C= c.12955C= (p.Arg4319=) c.12940C= (p.Arg4314=) c.12937C= (p.Arg4313=) c.12922C= (p.Arg4308=) c.12952C= (p.Arg4318=) | |
19 | g.38565289C>G | CA405672715 | RYR1 | c.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) | |
19 | g.38565289C>T | CA405672717 | RYR1 | c.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 |
19 | g.38565290G>A | CA024020 | RYR1 | c.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 |
19 | g.38565290G>C | CA405672720 | RYR1 | c.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 |
19 | g.38565290G= | CA2335084789 | RYR1 | c.1366G= c.1348G= c.12956G= (p.Arg4319=) c.12941G= (p.Arg4314=) c.12938G= (p.Arg4313=) c.12923G= (p.Arg4308=) c.12953G= (p.Arg4318=) | |
19 | g.38565290G>T | CA405672721 | RYR1 | c.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) | |
19 | g.38565291G>A | CA507355696 | RYR1 | c.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 |
19 | g.38565291G>C | CA507355697 | RYR1 | c.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=) | |
19 | g.38565291G= | CA2335084790 | RYR1 | c.1367G= c.1349G= c.12957G= (p.Arg4319=) c.12942G= (p.Arg4314=) c.12939G= (p.Arg4313=) c.12924G= (p.Arg4308=) c.12954G= (p.Arg4318=) | |
19 | g.38565291G>T | CA507355698 | RYR1 | c.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=) | |
19 | g.38565292C>A | CA405672724 | RYR1 | c.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) | |
19 | g.38565292C= | CA2335084791 | RYR1 | c.1368C= c.1350C= c.12958C= (p.Leu4320=) c.12943C= (p.Leu4315=) c.12940C= (p.Leu4314=) c.12925C= (p.Leu4309=) c.12955C= (p.Leu4319=) | |
19 | g.38565292C>G | CA405672726 | RYR1 | c.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 |
19 | g.38565292C>T | CA507355699 | RYR1 | c.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 |
19 | g.38565292_38565293insGCG | CA2584909137 | RYR1 | c.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 |
19 | g.38565293T>A | CA405672731 | RYR1 | c.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 |
19 | g.38565293T>C | CA405672729 | RYR1 | c.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 |
19 | g.38565293T>G | CA405672734 | RYR1 | c.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 |
19 | g.38565293T= | CA2335084792 | RYR1 | c.1369T= c.1351T= c.12959T= (p.Leu4320=) c.12944T= (p.Leu4315=) c.12941T= (p.Leu4314=) c.12926T= (p.Leu4309=) c.12956T= (p.Leu4319=) | |
19 | g.38565294G>A | CA507355701 | RYR1 | c.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 |
19 | g.38565294G>C | CA507355702 | RYR1 | c.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=) | |
19 | g.38565294G>T | CA507355703 | RYR1 | c.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 |
19 | g.38565295C>A | CA507355704 | RYR1 | c.1371C>A c.1353C>A c.12961C>A (p.Arg4321=) c.12946C>A (p.Arg4316=) c.12943C>A (p.Arg4315=) c.12928C>A (p.Arg4310=) c.12958C>A (p.Arg4320=) | gnomAD v4 |
19 | g.38565295C= | CA2335084793 | RYR1 | c.1371C= c.1353C= c.12961C= (p.Arg4321=) c.12946C= (p.Arg4316=) c.12943C= (p.Arg4315=) c.12928C= (p.Arg4310=) c.12958C= (p.Arg4320=) | |
19 | g.38565295C>G | CA405672736 | RYR1 | c.1371C>G c.1353C>G c.12961C>G (p.Arg4321Gly) c.12946C>G (p.Arg4316Gly) c.12943C>G (p.Arg4315Gly) c.12928C>G (p.Arg4310Gly) c.12958C>G (p.Arg4320Gly) | |
19 | g.38565295C>T | CA405672739 | RYR1 | c.1371C>T c.1353C>T c.12961C>T (p.Arg4321Trp) c.12946C>T (p.Arg4316Trp) c.12943C>T (p.Arg4315Trp) c.12928C>T (p.Arg4310Trp) c.12958C>T (p.Arg4320Trp) | ClinVar gnomAD v4 |
19 | g.38565295_38565296insAGT | CA995731603 | RYR1 | c.1371_1372insAGT c.1353_1354insAGT c.12961_12962insAGT (p.Arg4321delinsGlnTrp) c.12946_12947insAGT (p.Arg4316delinsGlnTrp) c.12943_12944insAGT (p.Arg4315delinsGlnTrp) c.12928_12929insAGT (p.Arg4310delinsGlnTrp) c.12958_12959insAGT (p.Arg4320delinsGlnTrp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565296G>A | CA405672741 | RYR1 | c.1372G>A c.1354G>A c.12962G>A (p.Arg4321Gln) c.12947G>A (p.Arg4316Gln) c.12944G>A (p.Arg4315Gln) c.12929G>A (p.Arg4310Gln) c.12959G>A (p.Arg4320Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565296G>C | CA405672743 | RYR1 | c.1372G>C c.1354G>C c.12962G>C (p.Arg4321Pro) c.12947G>C (p.Arg4316Pro) c.12944G>C (p.Arg4315Pro) c.12929G>C (p.Arg4310Pro) c.12959G>C (p.Arg4320Pro) | |
19 | g.38565296G= | CA2335084794 | RYR1 | c.1372G= c.1354G= c.12962G= (p.Arg4321=) c.12947G= (p.Arg4316=) c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12959G= (p.Arg4320=) | |
19 | g.38565296G>T | CA405672745 | RYR1 | c.1372G>T c.1354G>T c.12962G>T (p.Arg4321Leu) c.12947G>T (p.Arg4316Leu) c.12944G>T (p.Arg4315Leu) c.12929G>T (p.Arg4310Leu) c.12959G>T (p.Arg4320Leu) | dbSNP |
19 | g.38565297G>A | CA507355707 | RYR1 | c.1373G>A c.1355G>A c.12963G>A (p.Arg4321=) c.12948G>A (p.Arg4316=) c.12945G>A (p.Arg4315=) c.12930G>A (p.Arg4310=) c.12960G>A (p.Arg4320=) | gnomAD v4 |
19 | g.38565297G>C | CA507355708 | RYR1 | c.1373G>C c.1355G>C c.12963G>C (p.Arg4321=) c.12948G>C (p.Arg4316=) c.12945G>C (p.Arg4315=) c.12930G>C (p.Arg4310=) c.12960G>C (p.Arg4320=) | |
19 | g.38565297G>T | CA507355710 | RYR1 | c.1373G>T c.1355G>T c.12963G>T (p.Arg4321=) c.12948G>T (p.Arg4316=) c.12945G>T (p.Arg4315=) c.12930G>T (p.Arg4310=) c.12960G>T (p.Arg4320=) | |
19 | g.38565298C>A | CA507355711 | RYR1 | c.1374C>A c.1356C>A c.12964C>A (p.Arg4322=) c.12949C>A (p.Arg4317=) c.12946C>A (p.Arg4316=) c.12931C>A (p.Arg4311=) c.12961C>A (p.Arg4321=) | gnomAD v4 |
19 | g.38565298C= | CA2335084795 | RYR1 | c.1374C= c.1356C= c.12964C= (p.Arg4322=) c.12949C= (p.Arg4317=) c.12946C= (p.Arg4316=) c.12931C= (p.Arg4311=) c.12961C= (p.Arg4321=) | |
19 | g.38565298C>G | CA405672748 | RYR1 | c.1374C>G c.1356C>G c.12964C>G (p.Arg4322Gly) c.12949C>G (p.Arg4317Gly) c.12946C>G (p.Arg4316Gly) c.12931C>G (p.Arg4311Gly) c.12961C>G (p.Arg4321Gly) | |
19 | g.38565298C>T | CA405672750 | RYR1 | c.1374C>T c.1356C>T c.12964C>T (p.Arg4322Trp) c.12949C>T (p.Arg4317Trp) c.12946C>T (p.Arg4316Trp) c.12931C>T (p.Arg4311Trp) c.12961C>T (p.Arg4321Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565299G>A | CA405672753 | RYR1 | c.1375G>A c.1357G>A c.12965G>A (p.Arg4322Gln) c.12950G>A (p.Arg4317Gln) c.12947G>A (p.Arg4316Gln) c.12932G>A (p.Arg4311Gln) c.12962G>A (p.Arg4321Gln) | |
19 | g.38565299G>C | CA405672754 | RYR1 | c.1375G>C c.1357G>C c.12965G>C (p.Arg4322Pro) c.12950G>C (p.Arg4317Pro) c.12947G>C (p.Arg4316Pro) c.12932G>C (p.Arg4311Pro) c.12962G>C (p.Arg4321Pro) | |
19 | g.38565299G>T | CA405672756 | RYR1 | c.1375G>T c.1357G>T c.12965G>T (p.Arg4322Leu) c.12950G>T (p.Arg4317Leu) c.12947G>T (p.Arg4316Leu) c.12932G>T (p.Arg4311Leu) c.12962G>T (p.Arg4321Leu) | gnomAD v4 |
19 | g.38565300G>A | CA308109416 | RYR1 | c.1376G>A c.1358G>A c.12966G>A (p.Arg4322=) c.12951G>A (p.Arg4317=) c.12948G>A (p.Arg4316=) c.12933G>A (p.Arg4311=) c.12963G>A (p.Arg4321=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565300G>C | CA507355715 | RYR1 | c.1376G>C c.1358G>C c.12966G>C (p.Arg4322=) c.12951G>C (p.Arg4317=) c.12948G>C (p.Arg4316=) c.12933G>C (p.Arg4311=) c.12963G>C (p.Arg4321=) | |
19 | g.38565300G= | CA2335084796 | RYR1 | c.1376G= c.1358G= c.12966G= (p.Arg4322=) c.12951G= (p.Arg4317=) c.12948G= (p.Arg4316=) c.12933G= (p.Arg4311=) c.12963G= (p.Arg4321=) | |
19 | g.38565300G>T | CA507355716 | RYR1 | c.1376G>T c.1358G>T c.12966G>T (p.Arg4322=) c.12951G>T (p.Arg4317=) c.12948G>T (p.Arg4316=) c.12933G>T (p.Arg4311=) c.12963G>T (p.Arg4321=) | |
19 | g.38565300_38565302delinsGCT | CA2335084797 | RYR1 | c.1376_1378delinsGCT c.1358_1360delinsGCT c.12966_12968delinsGCT (p.Arg4322=) c.12951_12953delinsGCT (p.Arg4317=) c.12948_12950delinsGCT (p.Arg4316=) c.12933_12935delinsGCT (p.Arg4311=) c.12963_12965delinsGCT (p.Arg4321=) | |
19 | g.38565301C>A | CA405672763 | RYR1 | c.1377C>A c.1359C>A c.12967C>A (p.Leu4323Ile) c.12952C>A (p.Leu4318Ile) c.12949C>A (p.Leu4317Ile) c.12934C>A (p.Leu4312Ile) c.12964C>A (p.Leu4322Ile) | |
19 | g.38565301C>G | CA405672761 | RYR1 | c.1377C>G c.1359C>G c.12967C>G (p.Leu4323Val) c.12952C>G (p.Leu4318Val) c.12949C>G (p.Leu4317Val) c.12934C>G (p.Leu4312Val) c.12964C>G (p.Leu4322Val) | dbSNP gnomAD v4 |
19 | g.38565301C>T | CA405672760 | RYR1 | c.1377C>T c.1359C>T c.12967C>T (p.Leu4323Phe) c.12952C>T (p.Leu4318Phe) c.12949C>T (p.Leu4317Phe) c.12934C>T (p.Leu4312Phe) c.12964C>T (p.Leu4322Phe) | gnomAD v4 |
19 | g.38565301_38565302del | CA995731612 | RYR1 | c.1377_1378del c.1359_1360del c.12967_12968del (p.Leu4323TyrfsTer?) c.12952_12953del (p.Leu4318TyrfsTer?) c.12949_12950del (p.Leu4317TyrfsTer?) c.12934_12935del (p.Leu4312TyrfsTer?) c.12964_12965del (p.Leu4322TyrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565302T>A | CA405672765 | RYR1 | c.1378T>A c.1360T>A c.12968T>A (p.Leu4323His) c.12953T>A (p.Leu4318His) c.12950T>A (p.Leu4317His) c.12935T>A (p.Leu4312His) c.12965T>A (p.Leu4322His) | |
19 | g.38565302T>C | CA405672768 | RYR1 | c.1378T>C c.1360T>C c.12968T>C (p.Leu4323Pro) c.12953T>C (p.Leu4318Pro) c.12950T>C (p.Leu4317Pro) c.12935T>C (p.Leu4312Pro) c.12965T>C (p.Leu4322Pro) | gnomAD v4 |
19 | g.38565302T>G | CA405672770 | RYR1 | c.1378T>G c.1360T>G c.12968T>G (p.Leu4323Arg) c.12953T>G (p.Leu4318Arg) c.12950T>G (p.Leu4317Arg) c.12935T>G (p.Leu4312Arg) c.12965T>G (p.Leu4322Arg) | |
19 | g.38565303T>A | CA507355722 | RYR1 | c.1379T>A c.1361T>A c.12969T>A (p.Leu4323=) c.12954T>A (p.Leu4318=) c.12951T>A (p.Leu4317=) c.12936T>A (p.Leu4312=) c.12966T>A (p.Leu4322=) | |
19 | g.38565303T>C | CA507355720 | RYR1 | c.1379T>C c.1361T>C c.12969T>C (p.Leu4323=) c.12954T>C (p.Leu4318=) c.12951T>C (p.Leu4317=) c.12936T>C (p.Leu4312=) c.12966T>C (p.Leu4322=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565303T>G | CA507355721 | RYR1 | c.1379T>G c.1361T>G c.12969T>G (p.Leu4323=) c.12954T>G (p.Leu4318=) c.12951T>G (p.Leu4317=) c.12936T>G (p.Leu4312=) c.12966T>G (p.Leu4322=) | |
19 | g.38565304A= | CA2335084798 | RYR1 | c.1380A= c.1362A= c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12952A= (p.Thr4318=) c.12937A= (p.Thr4313=) c.12967A= (p.Thr4323=) | |
19 | g.38565304A>C | CA405672772 | RYR1 | c.1380A>C c.1362A>C c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12952A>C (p.Thr4318Pro) c.12937A>C (p.Thr4313Pro) c.12967A>C (p.Thr4323Pro) | |
19 | g.38565304A>G | CA405672775 | RYR1 | c.1380A>G c.1362A>G c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12952A>G (p.Thr4318Ala) c.12937A>G (p.Thr4313Ala) c.12967A>G (p.Thr4323Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565304A>T | CA405672778 | RYR1 | c.1380A>T c.1362A>T c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12952A>T (p.Thr4318Ser) c.12937A>T (p.Thr4313Ser) c.12967A>T (p.Thr4323Ser) | |
19 | g.38565305C>A | CA405672780 | RYR1 | c.1381C>A c.1363C>A c.12971C>A (p.Thr4324Lys) c.12956C>A (p.Thr4319Lys) c.12953C>A (p.Thr4318Lys) c.12938C>A (p.Thr4313Lys) c.12968C>A (p.Thr4323Lys) | |
19 | g.38565305C= | CA2335084799 | RYR1 | c.1381C= c.1363C= c.12971C= (p.Thr4324=) c.12956C= (p.Thr4319=) c.12953C= (p.Thr4318=) c.12938C= (p.Thr4313=) c.12968C= (p.Thr4323=) | |
19 | g.38565305C>G | CA405672781 | RYR1 | c.1381C>G c.1363C>G c.12971C>G (p.Thr4324Arg) c.12956C>G (p.Thr4319Arg) c.12953C>G (p.Thr4318Arg) c.12938C>G (p.Thr4313Arg) c.12968C>G (p.Thr4323Arg) | ClinVar gnomAD v4 |
19 | g.38565305C>T | CA405672783 | RYR1 | c.1381C>T c.1363C>T c.12971C>T (p.Thr4324Met) c.12956C>T (p.Thr4319Met) c.12953C>T (p.Thr4318Met) c.12938C>T (p.Thr4313Met) c.12968C>T (p.Thr4323Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565310_38565321del | CA2584909138 | RYR1 | c.1386_1397del c.1368_1379del c.12976_12987del (p.Arg4326_Ala4329del) c.12961_12972del (p.Arg4321_Ala4324del) c.12958_12969del (p.Arg4320_Ala4323del) c.12943_12954del (p.Arg4315_Ala4318del) c.12973_12984del (p.Arg4325_Ala4328del) | gnomAD v4 |
19 | g.38565305_38565306insAGT | CA995731621 | RYR1 | c.1381_1382insAGT c.1363_1364insAGT c.12971_12972insAGT (p.Thr4324_Ala4325insVal) c.12956_12957insAGT (p.Thr4319_Ala4320insVal) c.12953_12954insAGT (p.Thr4318_Ala4319insVal) c.12938_12939insAGT (p.Thr4313_Ala4314insVal) c.12968_12969insAGT (p.Thr4323_Ala4324insVal) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565306G>A | CA507355728 | RYR1 | c.1382G>A c.1364G>A c.12972G>A (p.Thr4324=) c.12957G>A (p.Thr4319=) c.12954G>A (p.Thr4318=) c.12939G>A (p.Thr4313=) c.12969G>A (p.Thr4323=) | dbSNP gnomAD v4 |
19 | g.38565306G>C | CA507355727 | RYR1 | c.1382G>C c.1364G>C c.12972G>C (p.Thr4324=) c.12957G>C (p.Thr4319=) c.12954G>C (p.Thr4318=) c.12939G>C (p.Thr4313=) c.12969G>C (p.Thr4323=) | ClinVar gnomAD v4 |
19 | g.38565306G>T | CA507355726 | RYR1 | c.1382G>T c.1364G>T c.12972G>T (p.Thr4324=) c.12957G>T (p.Thr4319=) c.12954G>T (p.Thr4318=) c.12939G>T (p.Thr4313=) c.12969G>T (p.Thr4323=) | gnomAD v4 |
19 | g.38565307G>A | CA405672787 | RYR1 | c.1383G>A c.1365G>A c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12955G>A (p.Ala4319Thr) c.12940G>A (p.Ala4314Thr) c.12970G>A (p.Ala4324Thr) | gnomAD v4 |
19 | g.38565307G>C | CA405672789 | RYR1 | c.1383G>C c.1365G>C c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12955G>C (p.Ala4319Pro) c.12940G>C (p.Ala4314Pro) c.12970G>C (p.Ala4324Pro) | |
19 | g.38565307G>T | CA405672791 | RYR1 | c.1383G>T c.1365G>T c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12955G>T (p.Ala4319Ser) c.12940G>T (p.Ala4314Ser) c.12970G>T (p.Ala4324Ser) | gnomAD v4 |
19 | g.38565308C>A | CA405672797 | RYR1 | c.1384C>A c.1366C>A c.12974C>A (p.Ala4325Asp) c.12959C>A (p.Ala4320Asp) c.12956C>A (p.Ala4319Asp) c.12941C>A (p.Ala4314Asp) c.12971C>A (p.Ala4324Asp) | gnomAD v4 |
19 | g.38565308C= | CA2335084800 | RYR1 | c.1384C= c.1366C= c.12974C= (p.Ala4325=) c.12959C= (p.Ala4320=) c.12956C= (p.Ala4319=) c.12941C= (p.Ala4314=) c.12971C= (p.Ala4324=) | |
19 | g.38565308C>G | CA405672796 | RYR1 | c.1384C>G c.1366C>G c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12956C>G (p.Ala4319Gly) c.12941C>G (p.Ala4314Gly) c.12971C>G (p.Ala4324Gly) | |
19 | g.38565308C>T | CA405672793 | RYR1 | c.1384C>T c.1366C>T c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12956C>T (p.Ala4319Val) c.12941C>T (p.Ala4314Val) c.12971C>T (p.Ala4324Val) | dbSNP gnomAD v4 |
19 | g.38565308_38565314delinsCCCGCGA | CA2335084801 | RYR1 | c.1384_1390delinsCCCGCGA c.1366_1372delinsCCCGCGA c.12974_12980delinsCCCGCGA (p.Ala4325=) c.12959_12965delinsCCCGCGA (p.Ala4320=) c.12956_12962delinsCCCGCGA (p.Ala4319=) c.12941_12947delinsCCCGCGA (p.Ala4314=) c.12971_12977delinsCCCGCGA (p.Ala4324=) | |
19 | g.38565309C>A | CA507355729 | RYR1 | c.1385C>A c.1367C>A c.12975C>A (p.Ala4325=) c.12960C>A (p.Ala4320=) c.12957C>A (p.Ala4319=) c.12942C>A (p.Ala4314=) c.12972C>A (p.Ala4324=) | gnomAD v4 |
19 | g.38565309C= | CA2335084802 | RYR1 | c.1385C= c.1367C= c.12975C= (p.Ala4325=) c.12960C= (p.Ala4320=) c.12957C= (p.Ala4319=) c.12942C= (p.Ala4314=) c.12972C= (p.Ala4324=) | |
19 | g.38565309C>G | CA507355731 | RYR1 | c.1385C>G c.1367C>G c.12975C>G (p.Ala4325=) c.12960C>G (p.Ala4320=) c.12957C>G (p.Ala4319=) c.12942C>G (p.Ala4314=) c.12972C>G (p.Ala4324=) | |
19 | g.38565309C>T | CA507355730 | RYR1 | c.1385C>T c.1367C>T c.12975C>T (p.Ala4325=) c.12960C>T (p.Ala4320=) c.12957C>T (p.Ala4319=) c.12942C>T (p.Ala4314=) c.12972C>T (p.Ala4324=) | dbSNP gnomAD v4 |
19 | g.38565309_38565314del | CA995731623 | RYR1 | c.1385_1390del c.1367_1372del c.12975_12980del (p.Arg4326_Glu4327del) c.12960_12965del (p.Arg4321_Glu4322del) c.12957_12962del (p.Arg4320_Glu4321del) c.12942_12947del (p.Arg4315_Glu4316del) c.12972_12977del (p.Arg4325_Glu4326del) | dbSNP gnomAD v3 gnomAD v4 |