Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.38565131_38565172del	CA2584909112	RYR1	c.1207_1248del c.1189_1230del c.12797_12838del (p.Gly4266_Ala4279del) c.12782_12823del (p.Gly4261_Ala4274del) c.12779_12820del (p.Gly4260_Ala4273del) c.6166_6207del c.12764_12805del (p.Gly4255_Ala4268del) c.12794_12835del (p.Gly4265_Ala4278del)	gnomAD v4
19	g.38565122_38565128delinsAGGGCGC	CA2335084650	RYR1	c.1198_1204delinsAGGGCGC c.1180_1186delinsAGGGCGC c.12788_12794delinsAGGGCGC (p.Glu4263=) c.12773_12779delinsAGGGCGC (p.Glu4258=) c.12770_12776delinsAGGGCGC (p.Glu4257=) c.6157_6163delinsAGGGCGC c.12755_12761delinsAGGGCGC (p.Glu4252=) c.12785_12791delinsAGGGCGC (p.Glu4262=)
19	g.38565122_38565143delinsAGGGCGCGGGCGCGGCGGAGGC	CA2335084651	RYR1	c.1198_1219delinsAGGGCGCGGGCGCGGCGGAGGC c.1180_1201delinsAGGGCGCGGGCGCGGCGGAGGC c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4263=) c.12773_12794delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4258=) c.12770_12791delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4257=) c.6157_6178delinsAGGGCGCGGGCGCGGCGGAGGC c.12755_12776delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4252=) c.12785_12806delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4262=)
19	g.38565131_38565136dup	CA059435	RYR1	c.1207_1212dup c.1189_1194dup c.12797_12802dup (p.Ala4267_Ala4268insGlyAla) c.12782_12787dup (p.Ala4262_Ala4263insGlyAla) c.12779_12784dup (p.Ala4261_Ala4262insGlyAla) c.6166_6171dup c.12764_12769dup (p.Ala4256_Ala4257insGlyAla) c.12794_12799dup (p.Ala4266_Ala4267insGlyAla)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565131_38565136del	CA633066813	RYR1	c.1207_1212del c.1189_1194del c.12797_12802del (p.Gly4266_Ala4267del) c.12782_12787del (p.Gly4261_Ala4262del) c.12779_12784del (p.Gly4260_Ala4261del) c.6166_6171del c.12764_12769del (p.Gly4255_Ala4256del) c.12794_12799del (p.Gly4265_Ala4266del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565131_38565151del	CA308109162	RYR1	c.1207_1227del c.1189_1209del c.12797_12817del (p.Gly4266_Ala4272del) c.12782_12802del (p.Gly4261_Ala4267del) c.12779_12799del (p.Gly4260_Ala4266del) c.6166_6186del c.12764_12784del (p.Gly4255_Ala4261del) c.12794_12814del (p.Gly4265_Ala4271del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565131_38565160dup	CA633066814	RYR1	c.1207_1236dup c.1189_1218dup c.12797_12826dup (p.Ala4275_Glu4276insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12782_12811dup (p.Ala4270_Glu4271insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12779_12808dup (p.Ala4269_Glu4270insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.6166_6195dup c.12764_12793dup (p.Ala4264_Glu4265insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12794_12823dup (p.Ala4274_Glu4275insGlyAlaAlaGluAlaGlyAlaGluGlyAla)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565126_38565129delinsCGCG	CA2335084656	RYR1	c.1202_1205delinsCGCG c.1184_1187delinsCGCG c.12792_12795delinsCGCG (p.Gly4264=) c.12777_12780delinsCGCG (p.Gly4259=) c.12774_12777delinsCGCG (p.Gly4258=) c.6161_6164delinsCGCG c.12759_12762delinsCGCG (p.Gly4253=) c.12789_12792delinsCGCG (p.Gly4263=)
19	g.38565126_38565141delinsCGCGGGCGCGGCGGAG	CA2335084655	RYR1	c.1202_1217delinsCGCGGGCGCGGCGGAG c.1184_1199delinsCGCGGGCGCGGCGGAG c.12792_12807delinsCGCGGGCGCGGCGGAG (p.Gly4264=) c.12777_12792delinsCGCGGGCGCGGCGGAG (p.Gly4259=) c.12774_12789delinsCGCGGGCGCGGCGGAG (p.Gly4258=) c.6161_6176delinsCGCGGGCGCGGCGGAG c.12759_12774delinsCGCGGGCGCGGCGGAG (p.Gly4253=) c.12789_12804delinsCGCGGGCGCGGCGGAG (p.Gly4263=)
19	g.38565128_38565130del	CA405671171	RYR1	c.1204_1206del c.1186_1188del c.12794_12796del (p.Ala4265del) c.12779_12781del (p.Ala4260del) c.12776_12778del (p.Ala4259del) c.6163_6165del c.12761_12763del (p.Ala4254del) c.12791_12793del (p.Ala4264del)	dbSNP
19	g.38565131_38565139del	CA2584909113	RYR1	c.1207_1215del c.1189_1197del c.12797_12805del (p.Gly4266_Ala4268del) c.12782_12790del (p.Gly4261_Ala4263del) c.12779_12787del (p.Gly4260_Ala4262del) c.6166_6174del c.12764_12772del (p.Gly4255_Ala4257del) c.12794_12802del (p.Gly4265_Ala4267del)	gnomAD v4
19	g.38565137_38565151dup	CA308109171	RYR1	c.1213_1227dup c.1195_1209dup c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla) c.12788_12802dup (p.Ala4267_Glu4268insAlaGluAlaGlyAla) c.12785_12799dup (p.Ala4266_Glu4267insAlaGluAlaGlyAla) c.6172_6186dup c.12770_12784dup (p.Ala4261_Glu4262insAlaGluAlaGlyAla) c.12800_12814dup (p.Ala4271_Glu4272insAlaGluAlaGlyAla)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565137_38565151del	CA308109175	RYR1	c.1213_1227del c.1195_1209del c.12803_12817del (p.Ala4268_Ala4272del) c.12788_12802del (p.Ala4263_Ala4267del) c.12785_12799del (p.Ala4262_Ala4266del) c.6172_6186del c.12770_12784del (p.Ala4257_Ala4261del) c.12800_12814del (p.Ala4267_Ala4271del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565128C>A	CA405671172	RYR1	c.1204C>A c.1186C>A c.12794C>A (p.Ala4265Glu) c.12779C>A (p.Ala4260Glu) c.12776C>A (p.Ala4259Glu) c.6163C>A c.12761C>A (p.Ala4254Glu) c.12791C>A (p.Ala4264Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565128C=	CA2335084657	RYR1	c.1204C= c.1186C= c.12794C= (p.Ala4265=) c.12779C= (p.Ala4260=) c.12776C= (p.Ala4259=) c.6163C= c.12761C= (p.Ala4254=) c.12791C= (p.Ala4264=)
19	g.38565128C>G	CA405671173	RYR1	c.1204C>G c.1186C>G c.12794C>G (p.Ala4265Gly) c.12779C>G (p.Ala4260Gly) c.12776C>G (p.Ala4259Gly) c.6163C>G c.12761C>G (p.Ala4254Gly) c.12791C>G (p.Ala4264Gly)
19	g.38565128C>T	CA405671174	RYR1	c.1204C>T c.1186C>T c.12794C>T (p.Ala4265Val) c.12779C>T (p.Ala4260Val) c.12776C>T (p.Ala4259Val) c.6163C>T c.12761C>T (p.Ala4254Val) c.12791C>T (p.Ala4264Val)	gnomAD v4
19	g.38565129G>A	CA507355622	RYR1	c.1205G>A c.1187G>A c.12795G>A (p.Ala4265=) c.12780G>A (p.Ala4260=) c.12777G>A (p.Ala4259=) c.6164G>A c.12762G>A (p.Ala4254=) c.12792G>A (p.Ala4264=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565129G>C	CA507355623	RYR1	c.1205G>C c.1187G>C c.12795G>C (p.Ala4265=) c.12780G>C (p.Ala4260=) c.12777G>C (p.Ala4259=) c.6164G>C c.12762G>C (p.Ala4254=) c.12792G>C (p.Ala4264=)	gnomAD v4
19	g.38565129G=	CA2335084658	RYR1	c.1205G= c.1187G= c.12795G= (p.Ala4265=) c.12780G= (p.Ala4260=) c.12777G= (p.Ala4259=) c.6164G= c.12762G= (p.Ala4254=) c.12792G= (p.Ala4264=)
19	g.38565129G>T	CA507355624	RYR1	c.1205G>T c.1187G>T c.12795G>T (p.Ala4265=) c.12780G>T (p.Ala4260=) c.12777G>T (p.Ala4259=) c.6164G>T c.12762G>T (p.Ala4254=) c.12792G>T (p.Ala4264=)	gnomAD v4
19	g.38565130G>A	CA405671177	RYR1	c.1206G>A c.1188G>A c.12796G>A (p.Gly4266Ser) c.12781G>A (p.Gly4261Ser) c.12778G>A (p.Gly4260Ser) c.6165G>A c.12763G>A (p.Gly4255Ser) c.12793G>A (p.Gly4265Ser)	gnomAD v4
19	g.38565130G>C	CA405671176	RYR1	c.1206G>C c.1188G>C c.12796G>C (p.Gly4266Arg) c.12781G>C (p.Gly4261Arg) c.12778G>C (p.Gly4260Arg) c.6165G>C c.12763G>C (p.Gly4255Arg) c.12793G>C (p.Gly4265Arg)
19	g.38565130G>T	CA405671175	RYR1	c.1206G>T c.1188G>T c.12796G>T (p.Gly4266Cys) c.12781G>T (p.Gly4261Cys) c.12778G>T (p.Gly4260Cys) c.6165G>T c.12763G>T (p.Gly4255Cys) c.12793G>T (p.Gly4265Cys)	gnomAD v4
19	g.38565137_38565160del	CA2584909114	RYR1	c.1213_1236del c.1195_1218del c.12803_12826del (p.Ala4268_Ala4275del) c.12788_12811del (p.Ala4263_Ala4270del) c.12785_12808del (p.Ala4262_Ala4269del) c.6172_6195del c.12770_12793del (p.Ala4257_Ala4264del) c.12800_12823del (p.Ala4267_Ala4274del)	gnomAD v4
19	g.38565131G>A	CA405671178	RYR1	c.1207G>A c.1189G>A c.12797G>A (p.Gly4266Asp) c.12782G>A (p.Gly4261Asp) c.12779G>A (p.Gly4260Asp) c.6166G>A c.12764G>A (p.Gly4255Asp) c.12794G>A (p.Gly4265Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565131G>C	CA405671181	RYR1	c.1207G>C c.1189G>C c.12797G>C (p.Gly4266Ala) c.12782G>C (p.Gly4261Ala) c.12779G>C (p.Gly4260Ala) c.6166G>C c.12764G>C (p.Gly4255Ala) c.12794G>C (p.Gly4265Ala)	gnomAD v4
19	g.38565131G=	CA2335084659	RYR1	c.1207G= c.1189G= c.12797G= (p.Gly4266=) c.12782G= (p.Gly4261=) c.12779G= (p.Gly4260=) c.6166G= c.12764G= (p.Gly4255=) c.12794G= (p.Gly4265=)
19	g.38565131G>T	CA405671179	RYR1	c.1207G>T c.1189G>T c.12797G>T (p.Gly4266Val) c.12782G>T (p.Gly4261Val) c.12779G>T (p.Gly4260Val) c.6166G>T c.12764G>T (p.Gly4255Val) c.12794G>T (p.Gly4265Val)	gnomAD v4
19	g.38565134_38565135dup	CA1139532380	RYR1	c.1210_1211dup c.1192_1193dup c.12800_12801dup (p.Ala4268ArgfsTer?) c.12785_12786dup (p.Ala4263ArgfsTer?) c.12782_12783dup (p.Ala4262ArgfsTer?) c.6169_6170dup c.12767_12768dup (p.Ala4257ArgfsTer?) c.12797_12798dup (p.Ala4267ArgfsTer?)
19	g.38565132C>A	CA507355627	RYR1	c.1208C>A c.1190C>A c.12798C>A (p.Gly4266=) c.12783C>A (p.Gly4261=) c.12780C>A (p.Gly4260=) c.6167C>A c.12765C>A (p.Gly4255=) c.12795C>A (p.Gly4265=)	gnomAD v4
19	g.38565132C=	CA2335084660	RYR1	c.1208C= c.1190C= c.12798C= (p.Gly4266=) c.12783C= (p.Gly4261=) c.12780C= (p.Gly4260=) c.6167C= c.12765C= (p.Gly4255=) c.12795C= (p.Gly4265=)
19	g.38565132C>G	CA507355626	RYR1	c.1208C>G c.1190C>G c.12798C>G (p.Gly4266=) c.12783C>G (p.Gly4261=) c.12780C>G (p.Gly4260=) c.6167C>G c.12765C>G (p.Gly4255=) c.12795C>G (p.Gly4265=)
19	g.38565132C>T	CA507355625	RYR1	c.1208C>T c.1190C>T c.12798C>T (p.Gly4266=) c.12783C>T (p.Gly4261=) c.12780C>T (p.Gly4260=) c.6167C>T c.12765C>T (p.Gly4255=) c.12795C>T (p.Gly4265=)	dbSNP gnomAD v4
19	g.38565133G>A	CA405671182	RYR1	c.1209G>A c.1191G>A c.12799G>A (p.Ala4267Thr) c.12784G>A (p.Ala4262Thr) c.12781G>A (p.Ala4261Thr) c.6168G>A c.12766G>A (p.Ala4256Thr) c.12796G>A (p.Ala4266Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565133G>C	CA405671184	RYR1	c.1209G>C c.1191G>C c.12799G>C (p.Ala4267Pro) c.12784G>C (p.Ala4262Pro) c.12781G>C (p.Ala4261Pro) c.6168G>C c.12766G>C (p.Ala4256Pro) c.12796G>C (p.Ala4266Pro)
19	g.38565133G=	CA2335084661	RYR1	c.1209G= c.1191G= c.12799G= (p.Ala4267=) c.12784G= (p.Ala4262=) c.12781G= (p.Ala4261=) c.6168G= c.12766G= (p.Ala4256=) c.12796G= (p.Ala4266=)
19	g.38565133G>T	CA405671186	RYR1	c.1209G>T c.1191G>T c.12799G>T (p.Ala4267Ser) c.12784G>T (p.Ala4262Ser) c.12781G>T (p.Ala4261Ser) c.6168G>T c.12766G>T (p.Ala4256Ser) c.12796G>T (p.Ala4266Ser)	gnomAD v4
19	g.38565134C>A	CA308109176	RYR1	c.1210C>A c.1192C>A c.12800C>A (p.Ala4267Glu) c.12785C>A (p.Ala4262Glu) c.12782C>A (p.Ala4261Glu) c.6169C>A c.12767C>A (p.Ala4256Glu) c.12797C>A (p.Ala4266Glu)	dbSNP gnomAD v4
19	g.38565134C=	CA2335084662	RYR1	c.1210C= c.1192C= c.12800C= (p.Ala4267=) c.12785C= (p.Ala4262=) c.12782C= (p.Ala4261=) c.6169C= c.12767C= (p.Ala4256=) c.12797C= (p.Ala4266=)
19	g.38565134C>G	CA059436	RYR1	c.1210C>G c.1192C>G c.12800C>G (p.Ala4267Gly) c.12785C>G (p.Ala4262Gly) c.12782C>G (p.Ala4261Gly) c.6169C>G c.12767C>G (p.Ala4256Gly) c.12797C>G (p.Ala4266Gly)	dbSNP ExAC gnomAD v4
19	g.38565134C>T	CA405671188	RYR1	c.1210C>T c.1192C>T c.12800C>T (p.Ala4267Val) c.12785C>T (p.Ala4262Val) c.12782C>T (p.Ala4261Val) c.6169C>T c.12767C>T (p.Ala4256Val) c.12797C>T (p.Ala4266Val)	gnomAD v4
19	g.38565135G>A	CA507355632	RYR1	c.1211G>A c.1193G>A c.12801G>A (p.Ala4267=) c.12786G>A (p.Ala4262=) c.12783G>A (p.Ala4261=) c.6170G>A c.12768G>A (p.Ala4256=) c.12798G>A (p.Ala4266=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565135G>C	CA507355634	RYR1	c.1211G>C c.1193G>C c.12801G>C (p.Ala4267=) c.12786G>C (p.Ala4262=) c.12783G>C (p.Ala4261=) c.6170G>C c.12768G>C (p.Ala4256=) c.12798G>C (p.Ala4266=)
19	g.38565135G=	CA2335084664	RYR1	c.1211G= c.1193G= c.12801G= (p.Ala4267=) c.12786G= (p.Ala4262=) c.12783G= (p.Ala4261=) c.6170G= c.12768G= (p.Ala4256=) c.12798G= (p.Ala4266=)
19	g.38565135G>T	CA507355636	RYR1	c.1211G>T c.1193G>T c.12801G>T (p.Ala4267=) c.12786G>T (p.Ala4262=) c.12783G>T (p.Ala4261=) c.6170G>T c.12768G>T (p.Ala4256=) c.12798G>T (p.Ala4266=)	gnomAD v4
19	g.38565135_38565156delinsGGCGGAGGCGGGCGCGGAAGGC	CA2335084663	RYR1	c.1211_1232delinsGGCGGAGGCGGGCGCGGAAGGC c.1193_1214delinsGGCGGAGGCGGGCGCGGAAGGC c.12801_12822delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4267=) c.12786_12807delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4262=) c.12783_12804delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4261=) c.6170_6191delinsGGCGGAGGCGGGCGCGGAAGGC c.12768_12789delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4256=) c.12798_12819delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4266=)
19	g.38565136G>A	CA10642758	RYR1	c.1212G>A c.1194G>A c.12802G>A (p.Ala4268Thr) c.12787G>A (p.Ala4263Thr) c.12784G>A (p.Ala4262Thr) c.6171G>A c.12769G>A (p.Ala4257Thr) c.12799G>A (p.Ala4267Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565136G>C	CA405671191	RYR1	c.1212G>C c.1194G>C c.12802G>C (p.Ala4268Pro) c.12787G>C (p.Ala4263Pro) c.12784G>C (p.Ala4262Pro) c.6171G>C c.12769G>C (p.Ala4257Pro) c.12799G>C (p.Ala4267Pro)
19	g.38565136G=	CA2335084665	RYR1	c.1212G= c.1194G= c.12802G= (p.Ala4268=) c.12787G= (p.Ala4263=) c.12784G= (p.Ala4262=) c.6171G= c.12769G= (p.Ala4257=) c.12799G= (p.Ala4267=)
19	g.38565136G>T	CA405671193	RYR1	c.1212G>T c.1194G>T c.12802G>T (p.Ala4268Ser) c.12787G>T (p.Ala4263Ser) c.12784G>T (p.Ala4262Ser) c.6171G>T c.12769G>T (p.Ala4257Ser) c.12799G>T (p.Ala4267Ser)
19	g.38565163_38565164insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG	CA2584909115	RYR1	c.1239_1240insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.1221_1222insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12829_12830insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12814_12815insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12811_12812insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.6198_6199insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12796_12797insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12826_12827insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu)	gnomAD v4
19	g.38565143_38565163dup	CA633066816	RYR1	c.1219_1239dup c.1201_1221dup c.12809_12829dup (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGlu) c.12794_12814dup (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGlu) c.12791_12811dup (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGlu) c.6178_6198dup c.12776_12796dup (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGlu) c.12806_12826dup (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGlu)	dbSNP gnomAD v2
19	g.38565143_38565163del	CA633066815	RYR1	c.1219_1239del c.1201_1221del c.12809_12829del (p.Ala4270_Glu4276del) c.12794_12814del (p.Ala4265_Glu4271del) c.12791_12811del (p.Ala4264_Glu4270del) c.6178_6198del c.12776_12796del (p.Ala4259_Glu4265del) c.12806_12826del (p.Ala4269_Glu4275del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565137C>A	CA405671196	RYR1	c.1213C>A c.1195C>A c.12803C>A (p.Ala4268Glu) c.12788C>A (p.Ala4263Glu) c.12785C>A (p.Ala4262Glu) c.6172C>A c.12770C>A (p.Ala4257Glu) c.12800C>A (p.Ala4267Glu)	gnomAD v4
19	g.38565137C=	CA2335084666	RYR1	c.1213C= c.1195C= c.12803C= (p.Ala4268=) c.12788C= (p.Ala4263=) c.12785C= (p.Ala4262=) c.6172C= c.12770C= (p.Ala4257=) c.12800C= (p.Ala4267=)
19	g.38565137C>G	CA059443	RYR1	c.1213C>G c.1195C>G c.12803C>G (p.Ala4268Gly) c.12788C>G (p.Ala4263Gly) c.12785C>G (p.Ala4262Gly) c.6172C>G c.12770C>G (p.Ala4257Gly) c.12800C>G (p.Ala4267Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565137C>T	CA405671194	RYR1	c.1213C>T c.1195C>T c.12803C>T (p.Ala4268Val) c.12788C>T (p.Ala4263Val) c.12785C>T (p.Ala4262Val) c.6172C>T c.12770C>T (p.Ala4257Val) c.12800C>T (p.Ala4267Val)	gnomAD v4
19	g.38565137_38565161delinsCGGAGGCGGGCGCGGAAGGCGCGGA	CA2335084667	RYR1	c.1213_1237delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.1195_1219delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12803_12827delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4268=) c.12788_12812delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4263=) c.12785_12809delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4262=) c.6172_6196delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12770_12794delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4257=) c.12800_12824delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4267=)
19	g.38565138G>A	CA507355643	RYR1	c.1214G>A c.1196G>A c.12804G>A (p.Ala4268=) c.12789G>A (p.Ala4263=) c.12786G>A (p.Ala4262=) c.6173G>A c.12771G>A (p.Ala4257=) c.12801G>A (p.Ala4267=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565138G>C	CA507355641	RYR1	c.1214G>C c.1196G>C c.12804G>C (p.Ala4268=) c.12789G>C (p.Ala4263=) c.12786G>C (p.Ala4262=) c.6173G>C c.12771G>C (p.Ala4257=) c.12801G>C (p.Ala4267=)
19	g.38565138G=	CA2335084668	RYR1	c.1214G= c.1196G= c.12804G= (p.Ala4268=) c.12789G= (p.Ala4263=) c.12786G= (p.Ala4262=) c.6173G= c.12771G= (p.Ala4257=) c.12801G= (p.Ala4267=)
19	g.38565138G>T	CA507355642	RYR1	c.1214G>T c.1196G>T c.12804G>T (p.Ala4268=) c.12789G>T (p.Ala4263=) c.12786G>T (p.Ala4262=) c.6173G>T c.12771G>T (p.Ala4257=) c.12801G>T (p.Ala4267=)
19	g.38565139_38565140insGGAGGCGCGGAGG	CA2576772092	RYR1	c.1215_1216insGGAGGCGCGGAGG c.1197_1198insGGAGGCGCGGAGG c.12805_12806insGGAGGCGCGGAGG (p.Glu4269GlyfsTer?) c.12790_12791insGGAGGCGCGGAGG (p.Glu4264GlyfsTer?) c.12787_12788insGGAGGCGCGGAGG (p.Glu4263GlyfsTer?) c.6174_6175insGGAGGCGCGGAGG c.12772_12773insGGAGGCGCGGAGG (p.Glu4258GlyfsTer?) c.12802_12803insGGAGGCGCGGAGG (p.Glu4268GlyfsTer?)
19	g.38565139_38565151dup	CA2576772091	RYR1	c.1215_1227dup c.1197_1209dup c.12805_12817dup (p.Glu4273GlyfsTer?) c.12790_12802dup (p.Glu4268GlyfsTer?) c.12787_12799dup (p.Glu4267GlyfsTer?) c.6174_6186dup c.12772_12784dup (p.Glu4262GlyfsTer?) c.12802_12814dup (p.Glu4272GlyfsTer?)
19	g.38565143_38565166del	CA882058415	RYR1	c.1219_1242del c.1201_1224del c.12809_12832del (p.Ala4270_Glu4277del) c.12794_12817del (p.Ala4265_Glu4272del) c.12791_12814del (p.Ala4264_Glu4271del) c.6178_6201del c.12776_12799del (p.Ala4259_Glu4266del) c.12806_12829del (p.Ala4269_Glu4276del)	dbSNP gnomAD v3 gnomAD v4
19	g.38565139G>A	CA405671197	RYR1	c.1215G>A c.1197G>A c.12805G>A (p.Glu4269Lys) c.12790G>A (p.Glu4264Lys) c.12787G>A (p.Glu4263Lys) c.6174G>A c.12772G>A (p.Glu4258Lys) c.12802G>A (p.Glu4268Lys)	ClinVar dbSNP
19	g.38565139G>C	CA405671198	RYR1	c.1215G>C c.1197G>C c.12805G>C (p.Glu4269Gln) c.12790G>C (p.Glu4264Gln) c.12787G>C (p.Glu4263Gln) c.6174G>C c.12772G>C (p.Glu4258Gln) c.12802G>C (p.Glu4268Gln)
19	g.38565139G=	CA2335084669	RYR1	c.1215G= c.1197G= c.12805G= (p.Glu4269=) c.12790G= (p.Glu4264=) c.12787G= (p.Glu4263=) c.6174G= c.12772G= (p.Glu4258=) c.12802G= (p.Glu4268=)
19	g.38565139G>T	CA405671199	RYR1	c.1215G>T c.1197G>T c.12805G>T (p.Glu4269Ter) c.12790G>T (p.Glu4264Ter) c.12787G>T (p.Glu4263Ter) c.6174G>T c.12772G>T (p.Glu4258Ter) c.12802G>T (p.Glu4268Ter)	gnomAD v4
19	g.38565140A=	CA2335084670	RYR1	c.1216A= c.1198A= c.12806A= (p.Glu4269=) c.12791A= (p.Glu4264=) c.12788A= (p.Glu4263=) c.6175A= c.12773A= (p.Glu4258=) c.12803A= (p.Glu4268=)
19	g.38565140A>C	CA405671200	RYR1	c.1216A>C c.1198A>C c.12806A>C (p.Glu4269Ala) c.12791A>C (p.Glu4264Ala) c.12788A>C (p.Glu4263Ala) c.6175A>C c.12773A>C (p.Glu4258Ala) c.12803A>C (p.Glu4268Ala)	gnomAD v3 gnomAD v4
19	g.38565140A>G	CA059446	RYR1	c.1216A>G c.1198A>G c.12806A>G (p.Glu4269Gly) c.12791A>G (p.Glu4264Gly) c.12788A>G (p.Glu4263Gly) c.6175A>G c.12773A>G (p.Glu4258Gly) c.12803A>G (p.Glu4268Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565140A>T	CA405671201	RYR1	c.1216A>T c.1198A>T c.12806A>T (p.Glu4269Val) c.12791A>T (p.Glu4264Val) c.12788A>T (p.Glu4263Val) c.6175A>T c.12773A>T (p.Glu4258Val) c.12803A>T (p.Glu4268Val)	gnomAD v4
19	g.38565141G>A	CA507355645	RYR1	c.1217G>A c.1199G>A c.12807G>A (p.Glu4269=) c.12792G>A (p.Glu4264=) c.12789G>A (p.Glu4263=) c.6176G>A c.12774G>A (p.Glu4258=) c.12804G>A (p.Glu4268=)
19	g.38565141G>C	CA405671202	RYR1	c.1217G>C c.1199G>C c.12807G>C (p.Glu4269Asp) c.12792G>C (p.Glu4264Asp) c.12789G>C (p.Glu4263Asp) c.6176G>C c.12774G>C (p.Glu4258Asp) c.12804G>C (p.Glu4268Asp)
19	g.38565141G>T	CA405671203	RYR1	c.1217G>T c.1199G>T c.12807G>T (p.Glu4269Asp) c.12792G>T (p.Glu4264Asp) c.12789G>T (p.Glu4263Asp) c.6176G>T c.12774G>T (p.Glu4258Asp) c.12804G>T (p.Glu4268Asp)	gnomAD v4
19	g.38565142G>A	CA405671204	RYR1	c.1218G>A c.1200G>A c.12808G>A (p.Ala4270Thr) c.12793G>A (p.Ala4265Thr) c.12790G>A (p.Ala4264Thr) c.6177G>A c.12775G>A (p.Ala4259Thr) c.12805G>A (p.Ala4269Thr)	ClinVar dbSNP gnomAD v4
19	g.38565142G>C	CA405671205	RYR1	c.1218G>C c.1200G>C c.12808G>C (p.Ala4270Pro) c.12793G>C (p.Ala4265Pro) c.12790G>C (p.Ala4264Pro) c.6177G>C c.12775G>C (p.Ala4259Pro) c.12805G>C (p.Ala4269Pro)
19	g.38565142G=	CA2335084671	RYR1	c.1218G= c.1200G= c.12808G= (p.Ala4270=) c.12793G= (p.Ala4265=) c.12790G= (p.Ala4264=) c.6177G= c.12775G= (p.Ala4259=) c.12805G= (p.Ala4269=)
19	g.38565142G>T	CA405671207	RYR1	c.1218G>T c.1200G>T c.12808G>T (p.Ala4270Ser) c.12793G>T (p.Ala4265Ser) c.12790G>T (p.Ala4264Ser) c.6177G>T c.12775G>T (p.Ala4259Ser) c.12805G>T (p.Ala4269Ser)
19	g.38565143C>A	CA405671216	RYR1	c.1219C>A c.1201C>A c.12809C>A (p.Ala4270Glu) c.12794C>A (p.Ala4265Glu) c.12791C>A (p.Ala4264Glu) c.6178C>A c.12776C>A (p.Ala4259Glu) c.12806C>A (p.Ala4269Glu)	dbSNP gnomAD v4
19	g.38565143C=	CA2335084673	RYR1	c.1219C= c.1201C= c.12809C= (p.Ala4270=) c.12794C= (p.Ala4265=) c.12791C= (p.Ala4264=) c.6178C= c.12776C= (p.Ala4259=) c.12806C= (p.Ala4269=)
19	g.38565143C>G	CA405671218	RYR1	c.1219C>G c.1201C>G c.12809C>G (p.Ala4270Gly) c.12794C>G (p.Ala4265Gly) c.12791C>G (p.Ala4264Gly) c.6178C>G c.12776C>G (p.Ala4259Gly) c.12806C>G (p.Ala4269Gly)	gnomAD v4
19	g.38565143C>T	CA405671215	RYR1	c.1219C>T c.1201C>T c.12809C>T (p.Ala4270Val) c.12794C>T (p.Ala4265Val) c.12791C>T (p.Ala4264Val) c.6178C>T c.12776C>T (p.Ala4259Val) c.12806C>T (p.Ala4269Val)	gnomAD v4
19	g.38565143_38565152delinsCGGGCGCGGA	CA2335084672	RYR1	c.1219_1228delinsCGGGCGCGGA c.1201_1210delinsCGGGCGCGGA c.12809_12818delinsCGGGCGCGGA (p.Ala4270=) c.12794_12803delinsCGGGCGCGGA (p.Ala4265=) c.12791_12800delinsCGGGCGCGGA (p.Ala4264=) c.6178_6187delinsCGGGCGCGGA c.12776_12785delinsCGGGCGCGGA (p.Ala4259=) c.12806_12815delinsCGGGCGCGGA (p.Ala4269=)
19	g.38565143_38565164delinsCGGGCGCGGAAGGCGCGGAGGA	CA2335084674	RYR1	c.1219_1240delinsCGGGCGCGGAAGGCGCGGAGGA c.1201_1222delinsCGGGCGCGGAAGGCGCGGAGGA c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4270=) c.12794_12815delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4265=) c.12791_12812delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4264=) c.6178_6199delinsCGGGCGCGGAAGGCGCGGAGGA c.12776_12797delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4259=) c.12806_12827delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4269=)
19	g.38565144G>A	CA507355648	RYR1	c.1220G>A c.1202G>A c.12810G>A (p.Ala4270=) c.12795G>A (p.Ala4265=) c.12792G>A (p.Ala4264=) c.6179G>A c.12777G>A (p.Ala4259=) c.12807G>A (p.Ala4269=)	gnomAD v4
19	g.38565144G>C	CA308109190	RYR1	c.1220G>C c.1202G>C c.12810G>C (p.Ala4270=) c.12795G>C (p.Ala4265=) c.12792G>C (p.Ala4264=) c.6179G>C c.12777G>C (p.Ala4259=) c.12807G>C (p.Ala4269=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565144G=	CA2335084676	RYR1	c.1220G= c.1202G= c.12810G= (p.Ala4270=) c.12795G= (p.Ala4265=) c.12792G= (p.Ala4264=) c.6179G= c.12777G= (p.Ala4259=) c.12807G= (p.Ala4269=)
19	g.38565144G>T	CA507355649	RYR1	c.1220G>T c.1202G>T c.12810G>T (p.Ala4270=) c.12795G>T (p.Ala4265=) c.12792G>T (p.Ala4264=) c.6179G>T c.12777G>T (p.Ala4259=) c.12807G>T (p.Ala4269=)
19	g.38565146del	CA2584909117	RYR1	c.1222del c.1204del c.12812del (p.Gly4271AlafsTer?) c.12797del (p.Gly4266AlafsTer?) c.12794del (p.Gly4265AlafsTer?) c.6181del c.12779del (p.Gly4260AlafsTer?) c.12809del (p.Gly4270AlafsTer?)	gnomAD v4
19	g.38565144_38565152del	CA059452	RYR1	c.1220_1228del c.1202_1210del c.12810_12818del (p.Gly4271_Glu4273del) c.12795_12803del (p.Gly4266_Glu4268del) c.12792_12800del (p.Gly4265_Glu4267del) c.6179_6187del c.12777_12785del (p.Gly4260_Glu4262del) c.12807_12815del (p.Gly4270_Glu4272del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565144_38565153delinsGGGCGCGGAA	CA2335084675	RYR1	c.1220_1229delinsGGGCGCGGAA c.1202_1211delinsGGGCGCGGAA c.12810_12819delinsGGGCGCGGAA (p.Ala4270=) c.12795_12804delinsGGGCGCGGAA (p.Ala4265=) c.12792_12801delinsGGGCGCGGAA (p.Ala4264=) c.6179_6188delinsGGGCGCGGAA c.12777_12786delinsGGGCGCGGAA (p.Ala4259=) c.12807_12816delinsGGGCGCGGAA (p.Ala4269=)
19	g.38565152_38565172dup	CA2584909116	RYR1	c.1228_1248dup c.1210_1230dup c.12818_12838dup (p.Ala4279_Ala4280insGluGlyAlaGluGluGlyAla) c.12803_12823dup (p.Ala4274_Ala4275insGluGlyAlaGluGluGlyAla) c.12800_12820dup (p.Ala4273_Ala4274insGluGlyAlaGluGluGlyAla) c.6187_6207dup c.12785_12805dup (p.Ala4268_Ala4269insGluGlyAlaGluGluGlyAla) c.12815_12835dup (p.Ala4278_Ala4279insGluGlyAlaGluGluGlyAla)	gnomAD v4
19	g.38565152_38565172del	CA916082459	RYR1	c.1228_1248del c.1210_1230del c.12818_12838del (p.Glu4273_Ala4279del) c.12803_12823del (p.Glu4268_Ala4274del) c.12800_12820del (p.Glu4267_Ala4273del) c.6187_6207del c.12785_12805del (p.Glu4262_Ala4268del) c.12815_12835del (p.Glu4272_Ala4278del)	ClinVar dbSNP gnomAD v4
19	g.38565145G>A	CA405671220	RYR1	c.1221G>A c.1203G>A c.12811G>A (p.Gly4271Ser) c.12796G>A (p.Gly4266Ser) c.12793G>A (p.Gly4265Ser) c.6180G>A c.12778G>A (p.Gly4260Ser) c.12808G>A (p.Gly4270Ser)
19	g.38565145G>C	CA405671222	RYR1	c.1221G>C c.1203G>C c.12811G>C (p.Gly4271Arg) c.12796G>C (p.Gly4266Arg) c.12793G>C (p.Gly4265Arg) c.6180G>C c.12778G>C (p.Gly4260Arg) c.12808G>C (p.Gly4270Arg)
19	g.38565145G>T	CA405671224	RYR1	c.1221G>T c.1203G>T c.12811G>T (p.Gly4271Cys) c.12796G>T (p.Gly4266Cys) c.12793G>T (p.Gly4265Cys) c.6180G>T c.12778G>T (p.Gly4260Cys) c.12808G>T (p.Gly4270Cys)
19	g.38565153_38565161dup	CA2576772093	RYR1	c.1229_1237dup c.1211_1219dup c.12819_12827dup (p.Glu4276_Glu4277insGlyAlaGlu) c.12804_12812dup (p.Glu4271_Glu4272insGlyAlaGlu) c.12801_12809dup (p.Glu4270_Glu4271insGlyAlaGlu) c.6188_6196dup c.12786_12794dup (p.Glu4265_Glu4266insGlyAlaGlu) c.12816_12824dup (p.Glu4275_Glu4276insGlyAlaGlu)	gnomAD v4
19	g.38565153_38565161del	CA080766	RYR1	c.1229_1237del c.1211_1219del c.12819_12827del (p.Gly4274_Glu4276del) c.12804_12812del (p.Gly4269_Glu4271del) c.12801_12809del (p.Gly4268_Glu4270del) c.6188_6196del c.12786_12794del (p.Gly4263_Glu4265del) c.12816_12824del (p.Gly4273_Glu4275del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565146G>A	CA059458	RYR1	c.1222G>A c.1204G>A c.12812G>A (p.Gly4271Asp) c.12797G>A (p.Gly4266Asp) c.12794G>A (p.Gly4265Asp) c.6181G>A c.12779G>A (p.Gly4260Asp) c.12809G>A (p.Gly4270Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565146G>C	CA405671226	RYR1	c.1222G>C c.1204G>C c.12812G>C (p.Gly4271Ala) c.12797G>C (p.Gly4266Ala) c.12794G>C (p.Gly4265Ala) c.6181G>C c.12779G>C (p.Gly4260Ala) c.12809G>C (p.Gly4270Ala)
19	g.38565146G=	CA2335084677	RYR1	c.1222G= c.1204G= c.12812G= (p.Gly4271=) c.12797G= (p.Gly4266=) c.12794G= (p.Gly4265=) c.6181G= c.12779G= (p.Gly4260=) c.12809G= (p.Gly4270=)
19	g.38565146G>T	CA405671227	RYR1	c.1222G>T c.1204G>T c.12812G>T (p.Gly4271Val) c.12797G>T (p.Gly4266Val) c.12794G>T (p.Gly4265Val) c.6181G>T c.12779G>T (p.Gly4260Val) c.12809G>T (p.Gly4270Val)	gnomAD v4
19	g.38565147C>A	CA507355655	RYR1	c.1223C>A c.1205C>A c.12813C>A (p.Gly4271=) c.12798C>A (p.Gly4266=) c.12795C>A (p.Gly4265=) c.6182C>A c.12780C>A (p.Gly4260=) c.12810C>A (p.Gly4270=)	gnomAD v4
19	g.38565147C=	CA2335084678	RYR1	c.1223C= c.1205C= c.12813C= (p.Gly4271=) c.12798C= (p.Gly4266=) c.12795C= (p.Gly4265=) c.6182C= c.12780C= (p.Gly4260=) c.12810C= (p.Gly4270=)
19	g.38565147C>G	CA507355656	RYR1	c.1223C>G c.1205C>G c.12813C>G (p.Gly4271=) c.12798C>G (p.Gly4266=) c.12795C>G (p.Gly4265=) c.6182C>G c.12780C>G (p.Gly4260=) c.12810C>G (p.Gly4270=)	dbSNP
19	g.38565147C>T	CA059461	RYR1	c.1223C>T c.1205C>T c.12813C>T (p.Gly4271=) c.12798C>T (p.Gly4266=) c.12795C>T (p.Gly4265=) c.6182C>T c.12780C>T (p.Gly4260=) c.12810C>T (p.Gly4270=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565148G>A	CA405671230	RYR1	c.1224G>A c.1206G>A c.12814G>A (p.Ala4272Thr) c.12799G>A (p.Ala4267Thr) c.12796G>A (p.Ala4266Thr) c.6183G>A c.12781G>A (p.Ala4261Thr) c.12811G>A (p.Ala4271Thr)	gnomAD v4
19	g.38565148G>C	CA405671231	RYR1	c.1224G>C c.1206G>C c.12814G>C (p.Ala4272Pro) c.12799G>C (p.Ala4267Pro) c.12796G>C (p.Ala4266Pro) c.6183G>C c.12781G>C (p.Ala4261Pro) c.12811G>C (p.Ala4271Pro)	dbSNP gnomAD v2 gnomAD v4
19	g.38565148G=	CA2335084679	RYR1	c.1224G= c.1206G= c.12814G= (p.Ala4272=) c.12799G= (p.Ala4267=) c.12796G= (p.Ala4266=) c.6183G= c.12781G= (p.Ala4261=) c.12811G= (p.Ala4271=)
19	g.38565148G>T	CA405671233	RYR1	c.1224G>T c.1206G>T c.12814G>T (p.Ala4272Ser) c.12799G>T (p.Ala4267Ser) c.12796G>T (p.Ala4266Ser) c.6183G>T c.12781G>T (p.Ala4261Ser) c.12811G>T (p.Ala4271Ser)	dbSNP gnomAD v4
19	g.38565149C>A	CA405671237	RYR1	c.1225C>A c.1207C>A c.12815C>A (p.Ala4272Glu) c.12800C>A (p.Ala4267Glu) c.12797C>A (p.Ala4266Glu) c.6184C>A c.12782C>A (p.Ala4261Glu) c.12812C>A (p.Ala4271Glu)
19	g.38565149C>G	CA405671238	RYR1	c.1225C>G c.1207C>G c.12815C>G (p.Ala4272Gly) c.12800C>G (p.Ala4267Gly) c.12797C>G (p.Ala4266Gly) c.6184C>G c.12782C>G (p.Ala4261Gly) c.12812C>G (p.Ala4271Gly)
19	g.38565149C>T	CA405671235	RYR1	c.1225C>T c.1207C>T c.12815C>T (p.Ala4272Val) c.12800C>T (p.Ala4267Val) c.12797C>T (p.Ala4266Val) c.6184C>T c.12782C>T (p.Ala4261Val) c.12812C>T (p.Ala4271Val)	gnomAD v4
19	g.38565150G>A	CA507355661	RYR1	c.1226G>A c.1208G>A c.12816G>A (p.Ala4272=) c.12801G>A (p.Ala4267=) c.12798G>A (p.Ala4266=) c.6185G>A c.12783G>A (p.Ala4261=) c.12813G>A (p.Ala4271=)	gnomAD v4
19	g.38565150G>C	CA507355662	RYR1	c.1226G>C c.1208G>C c.12816G>C (p.Ala4272=) c.12801G>C (p.Ala4267=) c.12798G>C (p.Ala4266=) c.6185G>C c.12783G>C (p.Ala4261=) c.12813G>C (p.Ala4271=)	ClinVar gnomAD v4
19	g.38565150G>T	CA507355663	RYR1	c.1226G>T c.1208G>T c.12816G>T (p.Ala4272=) c.12801G>T (p.Ala4267=) c.12798G>T (p.Ala4266=) c.6185G>T c.12783G>T (p.Ala4261=) c.12813G>T (p.Ala4271=)	gnomAD v4
19	g.38565150_38565156delinsGGAAGGC	CA2335084680	RYR1	c.1226_1232delinsGGAAGGC c.1208_1214delinsGGAAGGC c.12816_12822delinsGGAAGGC (p.Ala4272=) c.12801_12807delinsGGAAGGC (p.Ala4267=) c.12798_12804delinsGGAAGGC (p.Ala4266=) c.6185_6191delinsGGAAGGC c.12783_12789delinsGGAAGGC (p.Ala4261=) c.12813_12819delinsGGAAGGC (p.Ala4271=)
19	g.38565153_38565164del	CA2584909118	RYR1	c.1229_1240del c.1211_1222del c.12819_12830del (p.Gly4274_Glu4277del) c.12804_12815del (p.Gly4269_Glu4272del) c.12801_12812del (p.Gly4268_Glu4271del) c.6188_6199del c.12786_12797del (p.Gly4263_Glu4266del) c.12816_12827del (p.Gly4273_Glu4276del)	ClinVar gnomAD v4
19	g.38565151G>A	CA405671239	RYR1	c.1227G>A c.1209G>A c.12817G>A (p.Glu4273Lys) c.12802G>A (p.Glu4268Lys) c.12799G>A (p.Glu4267Lys) c.6186G>A c.12784G>A (p.Glu4262Lys) c.12814G>A (p.Glu4272Lys)	gnomAD v4
19	g.38565151G>C	CA405671240	RYR1	c.1227G>C c.1209G>C c.12817G>C (p.Glu4273Gln) c.12802G>C (p.Glu4268Gln) c.12799G>C (p.Glu4267Gln) c.6186G>C c.12784G>C (p.Glu4262Gln) c.12814G>C (p.Glu4272Gln)
19	g.38565151G>T	CA405671246	RYR1	c.1227G>T c.1209G>T c.12817G>T (p.Glu4273Ter) c.12802G>T (p.Glu4268Ter) c.12799G>T (p.Glu4267Ter) c.6186G>T c.12784G>T (p.Glu4262Ter) c.12814G>T (p.Glu4272Ter)
19	g.38565152_38565157del	CA633066817	RYR1	c.1228_1233del c.1210_1215del c.12818_12823del (p.Glu4273_Gly4274del) c.12803_12808del (p.Glu4268_Gly4269del) c.12800_12805del (p.Glu4267_Gly4268del) c.6187_6192del c.12785_12790del (p.Glu4262_Gly4263del) c.12815_12820del (p.Glu4272_Gly4273del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565152A>C	CA405671247	RYR1	c.1228A>C c.1210A>C c.12818A>C (p.Glu4273Ala) c.12803A>C (p.Glu4268Ala) c.12800A>C (p.Glu4267Ala) c.6187A>C c.12785A>C (p.Glu4262Ala) c.12815A>C (p.Glu4272Ala)	gnomAD v4
19	g.38565152A>G	CA405671249	RYR1	c.1228A>G c.1210A>G c.12818A>G (p.Glu4273Gly) c.12803A>G (p.Glu4268Gly) c.12800A>G (p.Glu4267Gly) c.6187A>G c.12785A>G (p.Glu4262Gly) c.12815A>G (p.Glu4272Gly)
19	g.38565152A>T	CA405671251	RYR1	c.1228A>T c.1210A>T c.12818A>T (p.Glu4273Val) c.12803A>T (p.Glu4268Val) c.12800A>T (p.Glu4267Val) c.6187A>T c.12785A>T (p.Glu4262Val) c.12815A>T (p.Glu4272Val)
19	g.38565153A=	CA2335084681	RYR1	c.1229A= c.1211A= c.12819A= (p.Glu4273=) c.12804A= (p.Glu4268=) c.12801A= (p.Glu4267=) c.6188A= c.12786A= (p.Glu4262=) c.12816A= (p.Glu4272=)
19	g.38565153A>C	CA405671252	RYR1	c.1229A>C c.1211A>C c.12819A>C (p.Glu4273Asp) c.12804A>C (p.Glu4268Asp) c.12801A>C (p.Glu4267Asp) c.6188A>C c.12786A>C (p.Glu4262Asp) c.12816A>C (p.Glu4272Asp)
19	g.38565153A>G	CA507355666	RYR1	c.1229A>G c.1211A>G c.12819A>G (p.Glu4273=) c.12804A>G (p.Glu4268=) c.12801A>G (p.Glu4267=) c.6188A>G c.12786A>G (p.Glu4262=) c.12816A>G (p.Glu4272=)
19	g.38565153A>T	CA405671253	RYR1	c.1229A>T c.1211A>T c.12819A>T (p.Glu4273Asp) c.12804A>T (p.Glu4268Asp) c.12801A>T (p.Glu4267Asp) c.6188A>T c.12786A>T (p.Glu4262Asp) c.12816A>T (p.Glu4272Asp)
19	g.38565154G>A	CA405671254	RYR1	c.1230G>A c.1212G>A c.12820G>A (p.Gly4274Ser) c.12805G>A (p.Gly4269Ser) c.12802G>A (p.Gly4268Ser) c.6189G>A c.12787G>A (p.Gly4263Ser) c.12817G>A (p.Gly4273Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565154G>C	CA405671256	RYR1	c.1230G>C c.1212G>C c.12820G>C (p.Gly4274Arg) c.12805G>C (p.Gly4269Arg) c.12802G>C (p.Gly4268Arg) c.6189G>C c.12787G>C (p.Gly4263Arg) c.12817G>C (p.Gly4273Arg)
19	g.38565154G=	CA2335084683	RYR1	c.1230G= c.1212G= c.12820G= (p.Gly4274=) c.12805G= (p.Gly4269=) c.12802G= (p.Gly4268=) c.6189G= c.12787G= (p.Gly4263=) c.12817G= (p.Gly4273=)
19	g.38565154G>T	CA405671259	RYR1	c.1230G>T c.1212G>T c.12820G>T (p.Gly4274Cys) c.12805G>T (p.Gly4269Cys) c.12802G>T (p.Gly4268Cys) c.6189G>T c.12787G>T (p.Gly4263Cys) c.12817G>T (p.Gly4273Cys)
19	g.38565161_38565172dup	CA2335084682	RYR1	c.1237_1248dup c.1219_1230dup c.12827_12838dup (p.Ala4279_Ala4280insGluGluGlyAla) c.12812_12823dup (p.Ala4274_Ala4275insGluGluGlyAla) c.12809_12820dup (p.Ala4273_Ala4274insGluGluGlyAla) c.6196_6207dup c.12794_12805dup (p.Ala4268_Ala4269insGluGluGlyAla) c.12824_12835dup (p.Ala4278_Ala4279insGluGluGlyAla)	ClinVar dbSNP gnomAD v4
19	g.38565161_38565172del	CA2584909120	RYR1	c.1237_1248del c.1219_1230del c.12827_12838del (p.Glu4276_Ala4279del) c.12812_12823del (p.Glu4271_Ala4274del) c.12809_12820del (p.Glu4270_Ala4273del) c.6196_6207del c.12794_12805del (p.Glu4265_Ala4268del) c.12824_12835del (p.Glu4275_Ala4278del)	gnomAD v4
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.38565155G>A	CA405671261	RYR1	c.1231G>A c.1213G>A c.12821G>A (p.Gly4274Asp) c.12806G>A (p.Gly4269Asp) c.12803G>A (p.Gly4268Asp) c.6190G>A c.12788G>A (p.Gly4263Asp) c.12818G>A (p.Gly4273Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565155G>C	CA405671264	RYR1	c.1231G>C c.1213G>C c.12821G>C (p.Gly4274Ala) c.12806G>C (p.Gly4269Ala) c.12803G>C (p.Gly4268Ala) c.6190G>C c.12788G>C (p.Gly4263Ala) c.12818G>C (p.Gly4273Ala)
19	g.38565155G=	CA2335084684	RYR1	c.1231G= c.1213G= c.12821G= (p.Gly4274=) c.12806G= (p.Gly4269=) c.12803G= (p.Gly4268=) c.6190G= c.12788G= (p.Gly4263=) c.12818G= (p.Gly4273=)
19	g.38565155G>T	CA405671268	RYR1	c.1231G>T c.1213G>T c.12821G>T (p.Gly4274Val) c.12806G>T (p.Gly4269Val) c.12803G>T (p.Gly4268Val) c.6190G>T c.12788G>T (p.Gly4263Val) c.12818G>T (p.Gly4273Val)	gnomAD v4
19	g.38565156C>A	CA507355668	RYR1	c.1232C>A c.1214C>A c.12822C>A (p.Gly4274=) c.12807C>A (p.Gly4269=) c.12804C>A (p.Gly4268=) c.6191C>A c.12789C>A (p.Gly4263=) c.12819C>A (p.Gly4273=)
19	g.38565156C=	CA2335084685	RYR1	c.1232C= c.1214C= c.12822C= (p.Gly4274=) c.12807C= (p.Gly4269=) c.12804C= (p.Gly4268=) c.6191C= c.12789C= (p.Gly4263=) c.12819C= (p.Gly4273=)
19	g.38565156C>G	CA507355670	RYR1	c.1232C>G c.1214C>G c.12822C>G (p.Gly4274=) c.12807C>G (p.Gly4269=) c.12804C>G (p.Gly4268=) c.6191C>G c.12789C>G (p.Gly4263=) c.12819C>G (p.Gly4273=)
19	g.38565156C>T	CA507355671	RYR1	c.1232C>T c.1214C>T c.12822C>T (p.Gly4274=) c.12807C>T (p.Gly4269=) c.12804C>T (p.Gly4268=) c.6191C>T c.12789C>T (p.Gly4263=) c.12819C>T (p.Gly4273=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565157G>A	CA059468	RYR1	c.1233G>A c.1215G>A c.12823G>A (p.Ala4275Thr) c.12808G>A (p.Ala4270Thr) c.12805G>A (p.Ala4269Thr) c.6192G>A c.12790G>A (p.Ala4264Thr) c.12820G>A (p.Ala4274Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565157G>C	CA405671285	RYR1	c.1233G>C c.1215G>C c.12823G>C (p.Ala4275Pro) c.12808G>C (p.Ala4270Pro) c.12805G>C (p.Ala4269Pro) c.6192G>C c.12790G>C (p.Ala4264Pro) c.12820G>C (p.Ala4274Pro)
19	g.38565157G=	CA2335084686	RYR1	c.1233G= c.1215G= c.12823G= (p.Ala4275=) c.12808G= (p.Ala4270=) c.12805G= (p.Ala4269=) c.6192G= c.12790G= (p.Ala4264=) c.12820G= (p.Ala4274=)
19	g.38565157G>T	CA405671274	RYR1	c.1233G>T c.1215G>T c.12823G>T (p.Ala4275Ser) c.12808G>T (p.Ala4270Ser) c.12805G>T (p.Ala4269Ser) c.6192G>T c.12790G>T (p.Ala4264Ser) c.12820G>T (p.Ala4274Ser)
19	g.38565157_38565158delinsAT	CA2573156315	RYR1	c.1233_1234delinsAT c.1215_1216delinsAT c.12823_12824delinsAT (p.Ala4275Met) c.12808_12809delinsAT (p.Ala4270Met) c.12805_12806delinsAT (p.Ala4269Met) c.6192_6193delinsAT c.12790_12791delinsAT (p.Ala4264Met) c.12820_12821delinsAT (p.Ala4274Met)	ClinVar dbSNP
19	g.38565158C>A	CA405671292	RYR1	c.1234C>A c.1216C>A c.12824C>A (p.Ala4275Glu) c.12809C>A (p.Ala4270Glu) c.12806C>A (p.Ala4269Glu) c.6193C>A c.12791C>A (p.Ala4264Glu) c.12821C>A (p.Ala4274Glu)
19	g.38565158C=	CA2335084687	RYR1	c.1234C= c.1216C= c.12824C= (p.Ala4275=) c.12809C= (p.Ala4270=) c.12806C= (p.Ala4269=) c.6193C= c.12791C= (p.Ala4264=) c.12821C= (p.Ala4274=)
19	g.38565158C>G	CA405671287	RYR1	c.1234C>G c.1216C>G c.12824C>G (p.Ala4275Gly) c.12809C>G (p.Ala4270Gly) c.12806C>G (p.Ala4269Gly) c.6193C>G c.12791C>G (p.Ala4264Gly) c.12821C>G (p.Ala4274Gly)
19	g.38565158C>T	CA405671290	RYR1	c.1234C>T c.1216C>T c.12824C>T (p.Ala4275Val) c.12809C>T (p.Ala4270Val) c.12806C>T (p.Ala4269Val) c.6193C>T c.12791C>T (p.Ala4264Val) c.12821C>T (p.Ala4274Val)	dbSNP gnomAD v4
19	g.38565159G>A	CA507355675	RYR1	c.1235G>A c.1217G>A c.12825G>A (p.Ala4275=) c.12810G>A (p.Ala4270=) c.12807G>A (p.Ala4269=) c.6194G>A c.12792G>A (p.Ala4264=) c.12822G>A (p.Ala4274=)	dbSNP gnomAD v2 gnomAD v4
19	g.38565159G>C	CA507355676	RYR1	c.1235G>C c.1217G>C c.12825G>C (p.Ala4275=) c.12810G>C (p.Ala4270=) c.12807G>C (p.Ala4269=) c.6194G>C c.12792G>C (p.Ala4264=) c.12822G>C (p.Ala4274=)
19	g.38565159G=	CA2335084688	RYR1	c.1235G= c.1217G= c.12825G= (p.Ala4275=) c.12810G= (p.Ala4270=) c.12807G= (p.Ala4269=) c.6194G= c.12792G= (p.Ala4264=) c.12822G= (p.Ala4274=)
19	g.38565159G>T	CA507355677	RYR1	c.1235G>T c.1217G>T c.12825G>T (p.Ala4275=) c.12810G>T (p.Ala4270=) c.12807G>T (p.Ala4269=) c.6194G>T c.12792G>T (p.Ala4264=) c.12822G>T (p.Ala4274=)
19	g.38565160G>A	CA080769	RYR1	c.1236G>A c.1218G>A c.12826G>A (p.Glu4276Lys) c.12811G>A (p.Glu4271Lys) c.12808G>A (p.Glu4270Lys) c.6195G>A c.12793G>A (p.Glu4265Lys) c.12823G>A (p.Glu4275Lys)
19	g.38565160G>C	CA405671296	RYR1	c.1236G>C c.1218G>C c.12826G>C (p.Glu4276Gln) c.12811G>C (p.Glu4271Gln) c.12808G>C (p.Glu4270Gln) c.6195G>C c.12793G>C (p.Glu4265Gln) c.12823G>C (p.Glu4275Gln)	dbSNP
19	g.38565160G=	CA2335084689	RYR1	c.1236G= c.1218G= c.12826G= (p.Glu4276=) c.12811G= (p.Glu4271=) c.12808G= (p.Glu4270=) c.6195G= c.12793G= (p.Glu4265=) c.12823G= (p.Glu4275=)
19	g.38565160G>T	CA405671298	RYR1	c.1236G>T c.1218G>T c.12826G>T (p.Glu4276Ter) c.12811G>T (p.Glu4271Ter) c.12808G>T (p.Glu4270Ter) c.6195G>T c.12793G>T (p.Glu4265Ter) c.12823G>T (p.Glu4275Ter)
19	g.38565161A=	CA2335084690	RYR1	c.1237A= c.1219A= c.12827A= (p.Glu4276=) c.12812A= (p.Glu4271=) c.12809A= (p.Glu4270=) c.6196A= c.12794A= (p.Glu4265=) c.12824A= (p.Glu4275=)
19	g.38565161A>C	CA405671315	RYR1	c.1237A>C c.1219A>C c.12827A>C (p.Glu4276Ala) c.12812A>C (p.Glu4271Ala) c.12809A>C (p.Glu4270Ala) c.6196A>C c.12794A>C (p.Glu4265Ala) c.12824A>C (p.Glu4275Ala)	dbSNP gnomAD v3 gnomAD v4
19	g.38565161A>G	CA405671334	RYR1	c.1237A>G c.1219A>G c.12827A>G (p.Glu4276Gly) c.12812A>G (p.Glu4271Gly) c.12809A>G (p.Glu4270Gly) c.6196A>G c.12794A>G (p.Glu4265Gly) c.12824A>G (p.Glu4275Gly)
19	g.38565161A>T	CA405671337	RYR1	c.1237A>T c.1219A>T c.12827A>T (p.Glu4276Val) c.12812A>T (p.Glu4271Val) c.12809A>T (p.Glu4270Val) c.6196A>T c.12794A>T (p.Glu4265Val) c.12824A>T (p.Glu4275Val)
19	g.38565162G>A	CA507355681	RYR1	c.1238G>A c.1220G>A c.12828G>A (p.Glu4276=) c.12813G>A (p.Glu4271=) c.12810G>A (p.Glu4270=) c.6197G>A c.12795G>A (p.Glu4265=) c.12825G>A (p.Glu4275=)	gnomAD v4
19	g.38565162G>C	CA405671348	RYR1	c.1238G>C c.1220G>C c.12828G>C (p.Glu4276Asp) c.12813G>C (p.Glu4271Asp) c.12810G>C (p.Glu4270Asp) c.6197G>C c.12795G>C (p.Glu4265Asp) c.12825G>C (p.Glu4275Asp)
19	g.38565162G=	CA2335084691	RYR1	c.1238G= c.1220G= c.12828G= (p.Glu4276=) c.12813G= (p.Glu4271=) c.12810G= (p.Glu4270=) c.6197G= c.12795G= (p.Glu4265=) c.12825G= (p.Glu4275=)
19	g.38565162G>T	CA405671359	RYR1	c.1238G>T c.1220G>T c.12828G>T (p.Glu4276Asp) c.12813G>T (p.Glu4271Asp) c.12810G>T (p.Glu4270Asp) c.6197G>T c.12795G>T (p.Glu4265Asp) c.12825G>T (p.Glu4275Asp)
19	g.38565164_38565175dup	CA2576772094	RYR1	c.1240_1251dup c.1222_1233dup c.12830_12841dup (p.Ala4280_Gly4281insGluGlyAlaAla) c.12815_12826dup (p.Ala4275_Gly4276insGluGlyAlaAla) c.12812_12823dup (p.Ala4274_Gly4275insGluGlyAlaAla) c.6199_6210dup c.12797_12808dup (p.Ala4269_Gly4270insGluGlyAlaAla) c.12827_12838dup (p.Ala4279_Gly4280insGluGlyAlaAla)	gnomAD v4
19	g.38565163G>A	CA405671364	RYR1	c.1239G>A c.1221G>A c.12829G>A (p.Glu4277Lys) c.12814G>A (p.Glu4272Lys) c.12811G>A (p.Glu4271Lys) c.6198G>A c.12796G>A (p.Glu4266Lys) c.12826G>A (p.Glu4276Lys)	ClinVar
19	g.38565163G>C	CA405671365	RYR1	c.1239G>C c.1221G>C c.12829G>C (p.Glu4277Gln) c.12814G>C (p.Glu4272Gln) c.12811G>C (p.Glu4271Gln) c.6198G>C c.12796G>C (p.Glu4266Gln) c.12826G>C (p.Glu4276Gln)
19	g.38565163G>T	CA405671366	RYR1	c.1239G>T c.1221G>T c.12829G>T (p.Glu4277Ter) c.12814G>T (p.Glu4272Ter) c.12811G>T (p.Glu4271Ter) c.6198G>T c.12796G>T (p.Glu4266Ter) c.12826G>T (p.Glu4276Ter)	ClinVar dbSNP gnomAD v4
19	g.38565169_38565186dup	CA633066818	RYR1	c.1245_1262dup c.1227_1244dup c.12835_12852dup (p.Gly4284_Thr4285insAlaAlaGlyLeuGluGly) c.12820_12837dup (p.Gly4279_Thr4280insAlaAlaGlyLeuGluGly) c.12817_12834dup (p.Gly4278_Thr4279insAlaAlaGlyLeuGluGly) c.6204_6221dup c.12802_12819dup (p.Gly4273_Thr4274insAlaAlaGlyLeuGluGly) c.12832_12849dup (p.Gly4283_Thr4284insAlaAlaGlyLeuGluGly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565164A=	CA2335084692	RYR1	c.1240A= c.1222A= c.12830A= (p.Glu4277=) c.12815A= (p.Glu4272=) c.12812A= (p.Glu4271=) c.6199A= c.12797A= (p.Glu4266=) c.12827A= (p.Glu4276=)
19	g.38565164A>C	CA405671367	RYR1	c.1240A>C c.1222A>C c.12830A>C (p.Glu4277Ala) c.12815A>C (p.Glu4272Ala) c.12812A>C (p.Glu4271Ala) c.6199A>C c.12797A>C (p.Glu4266Ala) c.12827A>C (p.Glu4276Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565164A>G	CA405671369	RYR1	c.1240A>G c.1222A>G c.12830A>G (p.Glu4277Gly) c.12815A>G (p.Glu4272Gly) c.12812A>G (p.Glu4271Gly) c.6199A>G c.12797A>G (p.Glu4266Gly) c.12827A>G (p.Glu4276Gly)	gnomAD v4
19	g.38565164A>T	CA405671368	RYR1	c.1240A>T c.1222A>T c.12830A>T (p.Glu4277Val) c.12815A>T (p.Glu4272Val) c.12812A>T (p.Glu4271Val) c.6199A>T c.12797A>T (p.Glu4266Val) c.12827A>T (p.Glu4276Val)
19	g.38565165G>A	CA507355683	RYR1	c.1241G>A c.1223G>A c.12831G>A (p.Glu4277=) c.12816G>A (p.Glu4272=) c.12813G>A (p.Glu4271=) c.6200G>A c.12798G>A (p.Glu4266=) c.12828G>A (p.Glu4276=)	gnomAD v4
19	g.38565165G>C	CA405671371	RYR1	c.1241G>C c.1223G>C c.12831G>C (p.Glu4277Asp) c.12816G>C (p.Glu4272Asp) c.12813G>C (p.Glu4271Asp) c.6200G>C c.12798G>C (p.Glu4266Asp) c.12828G>C (p.Glu4276Asp)
19	g.38565165G>T	CA405671373	RYR1	c.1241G>T c.1223G>T c.12831G>T (p.Glu4277Asp) c.12816G>T (p.Glu4272Asp) c.12813G>T (p.Glu4271Asp) c.6200G>T c.12798G>T (p.Glu4266Asp) c.12828G>T (p.Glu4276Asp)	gnomAD v4
19	g.38565167del	CA2576772095	RYR1	c.1243del c.1225del c.12833del (p.Gly4278AlafsTer?) c.12818del (p.Gly4273AlafsTer?) c.12815del (p.Gly4272AlafsTer?) c.6202del c.12800del (p.Gly4267AlafsTer?) c.12830del (p.Gly4277AlafsTer?)
19	g.38565166_38565177dup	CA2584909121	RYR1	c.1242_1253dup c.1224_1235dup c.12832_12843dup (p.Gly4281_Leu4282insGlyAlaAlaGly) c.12817_12828dup (p.Gly4276_Leu4277insGlyAlaAlaGly) c.12814_12825dup (p.Gly4275_Leu4276insGlyAlaAlaGly) c.6201_6212dup c.12799_12810dup (p.Gly4270_Leu4271insGlyAlaAlaGly) c.12829_12840dup (p.Gly4280_Leu4281insGlyAlaAlaGly)	gnomAD v4
19	g.38565166G>A	CA405671374	RYR1	c.1242G>A c.1224G>A c.12832G>A (p.Gly4278Ser) c.12817G>A (p.Gly4273Ser) c.12814G>A (p.Gly4272Ser) c.6201G>A c.12799G>A (p.Gly4267Ser) c.12829G>A (p.Gly4277Ser)	dbSNP gnomAD v2
19	g.38565166G>C	CA405671385	RYR1	c.1242G>C c.1224G>C c.12832G>C (p.Gly4278Arg) c.12817G>C (p.Gly4273Arg) c.12814G>C (p.Gly4272Arg) c.6201G>C c.12799G>C (p.Gly4267Arg) c.12829G>C (p.Gly4277Arg)
19	g.38565166G=	CA2335084693	RYR1	c.1242G= c.1224G= c.12832G= (p.Gly4278=) c.12817G= (p.Gly4273=) c.12814G= (p.Gly4272=) c.6201G= c.12799G= (p.Gly4267=) c.12829G= (p.Gly4277=)
19	g.38565166G>T	CA405671389	RYR1	c.1242G>T c.1224G>T c.12832G>T (p.Gly4278Cys) c.12817G>T (p.Gly4273Cys) c.12814G>T (p.Gly4272Cys) c.6201G>T c.12799G>T (p.Gly4267Cys) c.12829G>T (p.Gly4277Cys)
19	g.38565167G>A	CA405671392	RYR1	c.1243G>A c.1225G>A c.12833G>A (p.Gly4278Asp) c.12818G>A (p.Gly4273Asp) c.12815G>A (p.Gly4272Asp) c.6202G>A c.12800G>A (p.Gly4267Asp) c.12830G>A (p.Gly4277Asp)	gnomAD v4
19	g.38565167G>C	CA405671395	RYR1	c.1243G>C c.1225G>C c.12833G>C (p.Gly4278Ala) c.12818G>C (p.Gly4273Ala) c.12815G>C (p.Gly4272Ala) c.6202G>C c.12800G>C (p.Gly4267Ala) c.12830G>C (p.Gly4277Ala)
19	g.38565167G>T	CA405671399	RYR1	c.1243G>T c.1225G>T c.12833G>T (p.Gly4278Val) c.12818G>T (p.Gly4273Val) c.12815G>T (p.Gly4272Val) c.6202G>T c.12800G>T (p.Gly4267Val) c.12830G>T (p.Gly4277Val)	gnomAD v4
19	g.38565168C>A	CA507355688	RYR1	c.1244C>A c.1226C>A c.12834C>A (p.Gly4278=) c.12819C>A (p.Gly4273=) c.12816C>A (p.Gly4272=) c.6203C>A c.12801C>A (p.Gly4267=) c.12831C>A (p.Gly4277=)	ClinVar gnomAD v4
19	g.38565168C=	CA2335084694	RYR1	c.1244C= c.1226C= c.12834C= (p.Gly4278=) c.12819C= (p.Gly4273=) c.12816C= (p.Gly4272=) c.6203C= c.12801C= (p.Gly4267=) c.12831C= (p.Gly4277=)
19	g.38565168C>G	CA507355691	RYR1	c.1244C>G c.1226C>G c.12834C>G (p.Gly4278=) c.12819C>G (p.Gly4273=) c.12816C>G (p.Gly4272=) c.6203C>G c.12801C>G (p.Gly4267=) c.12831C>G (p.Gly4277=)
19	g.38565168C>T	CA507355693	RYR1	c.1244C>T c.1226C>T c.12834C>T (p.Gly4278=) c.12819C>T (p.Gly4273=) c.12816C>T (p.Gly4272=) c.6203C>T c.12801C>T (p.Gly4267=) c.12831C>T (p.Gly4277=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565169G>A	CA059483	RYR1	c.1245G>A c.1227G>A c.12835G>A (p.Ala4279Thr) c.12820G>A (p.Ala4274Thr) c.12817G>A (p.Ala4273Thr) c.6204G>A c.12802G>A (p.Ala4268Thr) c.12832G>A (p.Ala4278Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565169G>C	CA405672200	RYR1	c.1245G>C c.1227G>C c.12835G>C (p.Ala4279Pro) c.12820G>C (p.Ala4274Pro) c.12817G>C (p.Ala4273Pro) c.6204G>C c.12802G>C (p.Ala4268Pro) c.12832G>C (p.Ala4278Pro)
19	g.38565169G=	CA2335084695	RYR1	c.1245G= c.1227G= c.12835G= (p.Ala4279=) c.12820G= (p.Ala4274=) c.12817G= (p.Ala4273=) c.6204G= c.12802G= (p.Ala4268=) c.12832G= (p.Ala4278=)
19	g.38565169G>T	CA405672211	RYR1	c.1245G>T c.1227G>T c.12835G>T (p.Ala4279Ser) c.12820G>T (p.Ala4274Ser) c.12817G>T (p.Ala4273Ser) c.6204G>T c.12802G>T (p.Ala4268Ser) c.12832G>T (p.Ala4278Ser)
19	g.38565169_38565187delinsGCGGCGGGGCTCGAGGGCA	CA2335084696	RYR1	c.1245_1263delinsGCGGCGGGGCTCGAGGGCA c.1227_1245delinsGCGGCGGGGCTCGAGGGCA c.12835_12853delinsGCGGCGGGGCTCGAGGGCA (p.Ala4279=) c.12820_12838delinsGCGGCGGGGCTCGAGGGCA (p.Ala4274=) c.12817_12835delinsGCGGCGGGGCTCGAGGGCA (p.Ala4273=) c.6204_6222delinsGCGGCGGGGCTCGAGGGCA c.12802_12820delinsGCGGCGGGGCTCGAGGGCA (p.Ala4268=) c.12832_12850delinsGCGGCGGGGCTCGAGGGCA (p.Ala4278=)
19	g.38565174_38565194del	CA2736030513	RYR1	c.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
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.38565170C>A	CA405672226	RYR1	c.1246C>A c.1228C>A c.12836C>A (p.Ala4279Glu) c.12821C>A (p.Ala4274Glu) c.12818C>A (p.Ala4273Glu) c.6205C>A c.12803C>A (p.Ala4268Glu) c.12833C>A (p.Ala4278Glu)	gnomAD v4
19	g.38565170C=	CA2335084697	RYR1	c.1246C= c.1228C= c.12836C= (p.Ala4279=) c.12821C= (p.Ala4274=) c.12818C= (p.Ala4273=) c.6205C= c.12803C= (p.Ala4268=) c.12833C= (p.Ala4278=)
19	g.38565170C>G	CA405672222	RYR1	c.1246C>G c.1228C>G c.12836C>G (p.Ala4279Gly) c.12821C>G (p.Ala4274Gly) c.12818C>G (p.Ala4273Gly) c.6205C>G c.12803C>G (p.Ala4268Gly) c.12833C>G (p.Ala4278Gly)	gnomAD v4
19	g.38565170C>T	CA405672216	RYR1	c.1246C>T c.1228C>T c.12836C>T (p.Ala4279Val) c.12821C>T (p.Ala4274Val) c.12818C>T (p.Ala4273Val) c.6205C>T c.12803C>T (p.Ala4268Val) c.12833C>T (p.Ala4278Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565176_38565193dup	CA882058466	RYR1	c.1252_1269dup c.1234_1251dup c.12842_12859dup (p.Ala4286_Ala4287insGlyLeuGluGlyThrAla) c.12827_12844dup (p.Ala4281_Ala4282insGlyLeuGluGlyThrAla) c.12824_12841dup (p.Ala4280_Ala4281insGlyLeuGluGlyThrAla) c.6211_6228dup c.12809_12826dup (p.Ala4275_Ala4276insGlyLeuGluGlyThrAla) c.12839_12856dup (p.Ala4285_Ala4286insGlyLeuGluGlyThrAla)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565176_38565193del	CA633066820	RYR1	c.1252_1269del c.1234_1251del c.12842_12859del (p.Gly4281_Ala4286del) c.12827_12844del (p.Gly4276_Ala4281del) c.12824_12841del (p.Gly4275_Ala4280del) c.6211_6228del c.12809_12826del (p.Gly4270_Ala4275del) c.12839_12856del (p.Gly4280_Ala4285del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565171G>A	CA507355419	RYR1	c.1247G>A c.1229G>A c.12837G>A (p.Ala4279=) c.12822G>A (p.Ala4274=) c.12819G>A (p.Ala4273=) c.6206G>A c.12804G>A (p.Ala4268=) c.12834G>A (p.Ala4278=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565171G>C	CA507355420	RYR1	c.1247G>C c.1229G>C c.12837G>C (p.Ala4279=) c.12822G>C (p.Ala4274=) c.12819G>C (p.Ala4273=) c.6206G>C c.12804G>C (p.Ala4268=) c.12834G>C (p.Ala4278=)
19	g.38565171G=	CA2335084698	RYR1	c.1247G= c.1229G= c.12837G= (p.Ala4279=) c.12822G= (p.Ala4274=) c.12819G= (p.Ala4273=) c.6206G= c.12804G= (p.Ala4268=) c.12834G= (p.Ala4278=)
19	g.38565171G>T	CA507355421	RYR1	c.1247G>T c.1229G>T c.12837G>T (p.Ala4279=) c.12822G>T (p.Ala4274=) c.12819G>T (p.Ala4273=) c.6206G>T c.12804G>T (p.Ala4268=) c.12834G>T (p.Ala4278=)	gnomAD v4
19	g.38565174_38565178dup	CA2584909123	RYR1	c.1250_1254dup c.1232_1236dup c.12840_12844dup (p.Leu4282ArgfsTer?) c.12825_12829dup (p.Leu4277ArgfsTer?) c.12822_12826dup (p.Leu4276ArgfsTer?) c.6209_6213dup c.12807_12811dup (p.Leu4271ArgfsTer?) c.12837_12841dup (p.Leu4281ArgfsTer?)	gnomAD v4
19	g.38565172G>A	CA080770	RYR1	c.1248G>A c.1230G>A c.12838G>A (p.Ala4280Thr) c.12823G>A (p.Ala4275Thr) c.12820G>A (p.Ala4274Thr) c.6207G>A c.12805G>A (p.Ala4269Thr) c.12835G>A (p.Ala4279Thr)
19	g.38565172G>C	CA405672228	RYR1	c.1248G>C c.1230G>C c.12838G>C (p.Ala4280Pro) c.12823G>C (p.Ala4275Pro) c.12820G>C (p.Ala4274Pro) c.6207G>C c.12805G>C (p.Ala4269Pro) c.12835G>C (p.Ala4279Pro)
19	g.38565172G>T	CA405672229	RYR1	c.1248G>T c.1230G>T c.12838G>T (p.Ala4280Ser) c.12823G>T (p.Ala4275Ser) c.12820G>T (p.Ala4274Ser) c.6207G>T c.12805G>T (p.Ala4269Ser) c.12835G>T (p.Ala4279Ser)
19	g.38565173C>A	CA405672230	RYR1	c.1249C>A c.1231C>A c.12839C>A (p.Ala4280Glu) c.12824C>A (p.Ala4275Glu) c.12821C>A (p.Ala4274Glu) c.6208C>A c.12806C>A (p.Ala4269Glu) c.12836C>A (p.Ala4279Glu)	gnomAD v4
19	g.38565173C=	CA2335084699	RYR1	c.1249C= c.1231C= c.12839C= (p.Ala4280=) c.12824C= (p.Ala4275=) c.12821C= (p.Ala4274=) c.6208C= c.12806C= (p.Ala4269=) c.12836C= (p.Ala4279=)
19	g.38565173C>G	CA405672232	RYR1	c.1249C>G c.1231C>G c.12839C>G (p.Ala4280Gly) c.12824C>G (p.Ala4275Gly) c.12821C>G (p.Ala4274Gly) c.6208C>G c.12806C>G (p.Ala4269Gly) c.12836C>G (p.Ala4279Gly)
19	g.38565173C>T	CA405672233	RYR1	c.1249C>T c.1231C>T c.12839C>T (p.Ala4280Val) c.12824C>T (p.Ala4275Val) c.12821C>T (p.Ala4274Val) c.6208C>T c.12806C>T (p.Ala4269Val) c.12836C>T (p.Ala4279Val)	dbSNP gnomAD v2 gnomAD v4
19	g.38565174G>A	CA507355426	RYR1	c.1250G>A c.1232G>A c.12840G>A (p.Ala4280=) c.12825G>A (p.Ala4275=) c.12822G>A (p.Ala4274=) c.6209G>A c.12807G>A (p.Ala4269=) c.12837G>A (p.Ala4279=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565174G>C	CA507355427	RYR1	c.1250G>C c.1232G>C c.12840G>C (p.Ala4280=) c.12825G>C (p.Ala4275=) c.12822G>C (p.Ala4274=) c.6209G>C c.12807G>C (p.Ala4269=) c.12837G>C (p.Ala4279=)
19	g.38565174G=	CA2335084700	RYR1	c.1250G= c.1232G= c.12840G= (p.Ala4280=) c.12825G= (p.Ala4275=) c.12822G= (p.Ala4274=) c.6209G= c.12807G= (p.Ala4269=) c.12837G= (p.Ala4279=)
19	g.38565174G>T	CA507355428	RYR1	c.1250G>T c.1232G>T c.12840G>T (p.Ala4280=) c.12825G>T (p.Ala4275=) c.12822G>T (p.Ala4274=) c.6209G>T c.12807G>T (p.Ala4269=) c.12837G>T (p.Ala4279=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565175G>A	CA405672245	RYR1	c.1251G>A c.1233G>A c.12841G>A (p.Gly4281Arg) c.12826G>A (p.Gly4276Arg) c.12823G>A (p.Gly4275Arg) c.6210G>A c.12808G>A (p.Gly4270Arg) c.12838G>A (p.Gly4280Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565175G>C	CA405672241	RYR1	c.1251G>C c.1233G>C c.12841G>C (p.Gly4281Arg) c.12826G>C (p.Gly4276Arg) c.12823G>C (p.Gly4275Arg) c.6210G>C c.12808G>C (p.Gly4270Arg) c.12838G>C (p.Gly4280Arg)
19	g.38565175G=	CA2335084702	RYR1	c.1251G= c.1233G= c.12841G= (p.Gly4281=) c.12826G= (p.Gly4276=) c.12823G= (p.Gly4275=) c.6210G= c.12808G= (p.Gly4270=) c.12838G= (p.Gly4280=)
19	g.38565175G>T	CA405672239	RYR1	c.1251G>T c.1233G>T c.12841G>T (p.Gly4281Trp) c.12826G>T (p.Gly4276Trp) c.12823G>T (p.Gly4275Trp) c.6210G>T c.12808G>T (p.Gly4270Trp) c.12838G>T (p.Gly4280Trp)	gnomAD v4
19	g.38565179_38565186dup	CA2335084701	RYR1	c.1255_1262dup c.1237_1244dup c.12845_12852dup (p.Thr4285SerfsTer?) c.12830_12837dup (p.Thr4280SerfsTer?) c.12827_12834dup (p.Thr4279SerfsTer?) c.6214_6221dup c.12812_12819dup (p.Thr4274SerfsTer?) c.12842_12849dup (p.Thr4284SerfsTer?)	dbSNP
19	g.38565176G>A	CA059486	RYR1	c.1252G>A c.1234G>A c.12842G>A (p.Gly4281Glu) c.12827G>A (p.Gly4276Glu) c.12824G>A (p.Gly4275Glu) c.6211G>A c.12809G>A (p.Gly4270Glu) c.12839G>A (p.Gly4280Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565176G>C	CA308109264	RYR1	c.1252G>C c.1234G>C c.12842G>C (p.Gly4281Ala) c.12827G>C (p.Gly4276Ala) c.12824G>C (p.Gly4275Ala) c.6211G>C c.12809G>C (p.Gly4270Ala) c.12839G>C (p.Gly4280Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565176G=	CA2335084703	RYR1	c.1252G= c.1234G= c.12842G= (p.Gly4281=) c.12827G= (p.Gly4276=) c.12824G= (p.Gly4275=) c.6211G= c.12809G= (p.Gly4270=) c.12839G= (p.Gly4280=)
19	g.38565176G>T	CA405672255	RYR1	c.1252G>T c.1234G>T c.12842G>T (p.Gly4281Val) c.12827G>T (p.Gly4276Val) c.12824G>T (p.Gly4275Val) c.6211G>T c.12809G>T (p.Gly4270Val) c.12839G>T (p.Gly4280Val)	dbSNP gnomAD v4
19	g.38565177G>A	CA507355431	RYR1	c.1253G>A c.1235G>A c.12843G>A (p.Gly4281=) c.12828G>A (p.Gly4276=) c.12825G>A (p.Gly4275=) c.6212G>A c.12810G>A (p.Gly4270=) c.12840G>A (p.Gly4280=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565177G>C	CA507355432	RYR1	c.1253G>C c.1235G>C c.12843G>C (p.Gly4281=) c.12828G>C (p.Gly4276=) c.12825G>C (p.Gly4275=) c.6212G>C c.12810G>C (p.Gly4270=) c.12840G>C (p.Gly4280=)	ClinVar dbSNP gnomAD v4
19	g.38565177G=	CA2335084704	RYR1	c.1253G= c.1235G= c.12843G= (p.Gly4281=) c.12828G= (p.Gly4276=) c.12825G= (p.Gly4275=) c.6212G= c.12810G= (p.Gly4270=) c.12840G= (p.Gly4280=)
19	g.38565177G>T	CA507355433	RYR1	c.1253G>T c.1235G>T c.12843G>T (p.Gly4281=) c.12828G>T (p.Gly4276=) c.12825G>T (p.Gly4275=) c.6212G>T c.12810G>T (p.Gly4270=) c.12840G>T (p.Gly4280=)	gnomAD v4
19	g.38565177_38565194dup	CA2335084705	RYR1	c.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
19	g.38565178C>A	CA405672259	RYR1	c.1254C>A c.1236C>A c.12844C>A (p.Leu4282Ile) c.12829C>A (p.Leu4277Ile) c.12826C>A (p.Leu4276Ile) c.6213C>A c.12811C>A (p.Leu4271Ile) c.12841C>A (p.Leu4281Ile)	gnomAD v4
19	g.38565178C=	CA2335084706	RYR1	c.1254C= c.1236C= c.12844C= (p.Leu4282=) c.12829C= (p.Leu4277=) c.12826C= (p.Leu4276=) c.6213C= c.12811C= (p.Leu4271=) c.12841C= (p.Leu4281=)
19	g.38565178C>G	CA405672265	RYR1	c.1254C>G c.1236C>G c.12844C>G (p.Leu4282Val) c.12829C>G (p.Leu4277Val) c.12826C>G (p.Leu4276Val) c.6213C>G c.12811C>G (p.Leu4271Val) c.12841C>G (p.Leu4281Val)
19	g.38565178C>T	CA405672268	RYR1	c.1254C>T c.1236C>T c.12844C>T (p.Leu4282Phe) c.12829C>T (p.Leu4277Phe) c.12826C>T (p.Leu4276Phe) c.6213C>T c.12811C>T (p.Leu4271Phe) c.12841C>T (p.Leu4281Phe)	dbSNP gnomAD v4
19	g.38565179T>A	CA405672273	RYR1	c.1255T>A c.1237T>A c.12845T>A (p.Leu4282His) c.12830T>A (p.Leu4277His) c.12827T>A (p.Leu4276His) c.6214T>A c.12812T>A (p.Leu4271His) c.12842T>A (p.Leu4281His)
19	g.38565179T>C	CA405672279	RYR1	c.1255T>C c.1237T>C c.12845T>C (p.Leu4282Pro) c.12830T>C (p.Leu4277Pro) c.12827T>C (p.Leu4276Pro) c.6214T>C c.12812T>C (p.Leu4271Pro) c.12842T>C (p.Leu4281Pro)	gnomAD v4
19	g.38565179T>G	CA405672276	RYR1	c.1255T>G c.1237T>G c.12845T>G (p.Leu4282Arg) c.12830T>G (p.Leu4277Arg) c.12827T>G (p.Leu4276Arg) c.6214T>G c.12812T>G (p.Leu4271Arg) c.12842T>G (p.Leu4281Arg)
19	g.38565180del	CA645609850	RYR1	c.1256del c.1238del c.12846del (p.Glu4283ArgfsTer?) c.12831del (p.Glu4278ArgfsTer?) c.12828del (p.Glu4277ArgfsTer?) c.6215del c.12813del (p.Glu4272ArgfsTer?) c.12843del (p.Glu4282ArgfsTer?)	COSMIC
19	g.38565180C>A	CA507355438	RYR1	c.1256C>A c.1238C>A c.12846C>A (p.Leu4282=) c.12831C>A (p.Leu4277=) c.12828C>A (p.Leu4276=) c.6215C>A c.12813C>A (p.Leu4271=) c.12843C>A (p.Leu4281=)	gnomAD v4
19	g.38565180C=	CA2335084707	RYR1	c.1256C= c.1238C= c.12846C= (p.Leu4282=) c.12831C= (p.Leu4277=) c.12828C= (p.Leu4276=) c.6215C= c.12813C= (p.Leu4271=) c.12843C= (p.Leu4281=)
19	g.38565180C>G	CA507355439	RYR1	c.1256C>G c.1238C>G c.12846C>G (p.Leu4282=) c.12831C>G (p.Leu4277=) c.12828C>G (p.Leu4276=) c.6215C>G c.12813C>G (p.Leu4271=) c.12843C>G (p.Leu4281=)	dbSNP
19	g.38565180C>T	CA507355440	RYR1	c.1256C>T c.1238C>T c.12846C>T (p.Leu4282=) c.12831C>T (p.Leu4277=) c.12828C>T (p.Leu4276=) c.6215C>T c.12813C>T (p.Leu4271=) c.12843C>T (p.Leu4281=)	ClinVar dbSNP gnomAD v4
19	g.38565181G>A	CA024009	RYR1	c.1257G>A c.1239G>A c.12847G>A (p.Glu4283Lys) c.12832G>A (p.Glu4278Lys) c.12829G>A (p.Glu4277Lys) c.6216G>A c.12814G>A (p.Glu4272Lys) c.12844G>A (p.Glu4282Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565181G>C	CA405672280	RYR1	c.1257G>C c.1239G>C c.12847G>C (p.Glu4283Gln) c.12832G>C (p.Glu4278Gln) c.12829G>C (p.Glu4277Gln) c.6216G>C c.12814G>C (p.Glu4272Gln) c.12844G>C (p.Glu4282Gln)	dbSNP gnomAD v4
19	g.38565181G=	CA2335084708	RYR1	c.1257G= c.1239G= c.12847G= (p.Glu4283=) c.12832G= (p.Glu4278=) c.12829G= (p.Glu4277=) c.6216G= c.12814G= (p.Glu4272=) c.12844G= (p.Glu4282=)
19	g.38565181G>T	CA405672281	RYR1	c.1257G>T c.1239G>T c.12847G>T (p.Glu4283Ter) c.12832G>T (p.Glu4278Ter) c.12829G>T (p.Glu4277Ter) c.6216G>T c.12814G>T (p.Glu4272Ter) c.12844G>T (p.Glu4282Ter)	gnomAD v4 COSMIC
19	g.38565182A=	CA2335084709	RYR1	c.1258A= c.1240A= c.12848A= (p.Glu4283=) c.12833A= (p.Glu4278=) c.12830A= (p.Glu4277=) c.6217A= c.12815A= (p.Glu4272=) c.12845A= (p.Glu4282=)
19	g.38565182A>C	CA405672282	RYR1	c.1258A>C c.1240A>C c.12848A>C (p.Glu4283Ala) c.12833A>C (p.Glu4278Ala) c.12830A>C (p.Glu4277Ala) c.6217A>C c.12815A>C (p.Glu4272Ala) c.12845A>C (p.Glu4282Ala)
19	g.38565182A>G	CA405672283	RYR1	c.1258A>G c.1240A>G c.12848A>G (p.Glu4283Gly) c.12833A>G (p.Glu4278Gly) c.12830A>G (p.Glu4277Gly) c.6217A>G c.12815A>G (p.Glu4272Gly) c.12845A>G (p.Glu4282Gly)	gnomAD v4
19	g.38565182A>T	CA024011	RYR1	c.1258A>T c.1240A>T c.12848A>T (p.Glu4283Val) c.12833A>T (p.Glu4278Val) c.12830A>T (p.Glu4277Val) c.6217A>T c.12815A>T (p.Glu4272Val) c.12845A>T (p.Glu4282Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565183G>A	CA507355445	RYR1	c.1259G>A c.1241G>A c.12849G>A (p.Glu4283=) c.12834G>A (p.Glu4278=) c.12831G>A (p.Glu4277=) c.6218G>A c.12816G>A (p.Glu4272=) c.12846G>A (p.Glu4282=)
19	g.38565183G>C	CA405672296	RYR1	c.1259G>C c.1241G>C c.12849G>C (p.Glu4283Asp) c.12834G>C (p.Glu4278Asp) c.12831G>C (p.Glu4277Asp) c.6218G>C c.12816G>C (p.Glu4272Asp) c.12846G>C (p.Glu4282Asp)
19	g.38565183G>T	CA405672297	RYR1	c.1259G>T c.1241G>T c.12849G>T (p.Glu4283Asp) c.12834G>T (p.Glu4278Asp) c.12831G>T (p.Glu4277Asp) c.6218G>T c.12816G>T (p.Glu4272Asp) c.12846G>T (p.Glu4282Asp)	gnomAD v4
19	g.38565185del	CA2576772096	RYR1	c.1261del c.1243del c.12851del (p.Gly4284AlafsTer?) c.12836del (p.Gly4279AlafsTer?) c.12833del (p.Gly4278AlafsTer?) c.6220del c.12818del (p.Gly4273AlafsTer?) c.12848del (p.Gly4283AlafsTer?)
19	g.38565185_38565193dup	CA882058496	RYR1	c.1261_1269dup c.1243_1251dup c.12851_12859dup (p.Ala4286_Ala4287insGlyThrAla) c.12836_12844dup (p.Ala4281_Ala4282insGlyThrAla) c.12833_12841dup (p.Ala4280_Ala4281insGlyThrAla) c.6220_6228dup c.12818_12826dup (p.Ala4275_Ala4276insGlyThrAla) c.12848_12856dup (p.Ala4285_Ala4286insGlyThrAla)	dbSNP gnomAD v4
19	g.38565184G>A	CA405672299	RYR1	c.1260G>A c.1242G>A c.12850G>A (p.Gly4284Ser) c.12835G>A (p.Gly4279Ser) c.12832G>A (p.Gly4278Ser) c.6219G>A c.12817G>A (p.Gly4273Ser) c.12847G>A (p.Gly4283Ser)
19	g.38565184G>C	CA405672300	RYR1	c.1260G>C c.1242G>C c.12850G>C (p.Gly4284Arg) c.12835G>C (p.Gly4279Arg) c.12832G>C (p.Gly4278Arg) c.6219G>C c.12817G>C (p.Gly4273Arg) c.12847G>C (p.Gly4283Arg)	gnomAD v4
19	g.38565184G>T	CA405672302	RYR1	c.1260G>T c.1242G>T c.12850G>T (p.Gly4284Cys) c.12835G>T (p.Gly4279Cys) c.12832G>T (p.Gly4278Cys) c.6219G>T c.12817G>T (p.Gly4273Cys) c.12847G>T (p.Gly4283Cys)	gnomAD v4
19	g.38565185G>A	CA405672310	RYR1	c.1261G>A c.1243G>A c.12851G>A (p.Gly4284Asp) c.12836G>A (p.Gly4279Asp) c.12833G>A (p.Gly4278Asp) c.6220G>A c.12818G>A (p.Gly4273Asp) c.12848G>A (p.Gly4283Asp)	gnomAD v4
19	g.38565185G>C	CA405672314	RYR1	c.1261G>C c.1243G>C c.12851G>C (p.Gly4284Ala) c.12836G>C (p.Gly4279Ala) c.12833G>C (p.Gly4278Ala) c.6220G>C c.12818G>C (p.Gly4273Ala) c.12848G>C (p.Gly4283Ala)	dbSNP gnomAD v4
19	g.38565185G=	CA2335084710	RYR1	c.1261G= c.1243G= c.12851G= (p.Gly4284=) c.12836G= (p.Gly4279=) c.12833G= (p.Gly4278=) c.6220G= c.12818G= (p.Gly4273=) c.12848G= (p.Gly4283=)
19	g.38565185G>T	CA308109281	RYR1	c.1261G>T c.1243G>T c.12851G>T (p.Gly4284Val) c.12836G>T (p.Gly4279Val) c.12833G>T (p.Gly4278Val) c.6220G>T c.12818G>T (p.Gly4273Val) c.12848G>T (p.Gly4283Val)	dbSNP
19	g.38565185_38565194delinsGCACGGCGGC	CA2335084711	RYR1	c.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=)
19	g.38565186C>A	CA507355451	RYR1	c.1262C>A c.1244C>A c.12852C>A (p.Gly4284=) c.12837C>A (p.Gly4279=) c.12834C>A (p.Gly4278=) c.6221C>A c.12819C>A (p.Gly4273=) c.12849C>A (p.Gly4283=)	gnomAD v4
19	g.38565186C=	CA2335084712	RYR1	c.1262C= c.1244C= c.12852C= (p.Gly4284=) c.12837C= (p.Gly4279=) c.12834C= (p.Gly4278=) c.6221C= c.12819C= (p.Gly4273=) c.12849C= (p.Gly4283=)
19	g.38565186C>G	CA507355448	RYR1	c.1262C>G c.1244C>G c.12852C>G (p.Gly4284=) c.12837C>G (p.Gly4279=) c.12834C>G (p.Gly4278=) c.6221C>G c.12819C>G (p.Gly4273=) c.12849C>G (p.Gly4283=)
19	g.38565186C>T	CA507355447	RYR1	c.1262C>T c.1244C>T c.12852C>T (p.Gly4284=) c.12837C>T (p.Gly4279=) c.12834C>T (p.Gly4278=) c.6221C>T c.12819C>T (p.Gly4273=) c.12849C>T (p.Gly4283=)	gnomAD v4
19	g.38565195_38565203dup	CA024013	RYR1	c.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
19	g.38565186_38565203dup	CA891863127	RYR1	c.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
19	g.38565195_38565203del	CA080772	RYR1	c.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
19	g.38565187A=	CA2335084713	RYR1	c.1263A= c.1245A= c.12853A= (p.Thr4285=) c.12838A= (p.Thr4280=) c.12835A= (p.Thr4279=) c.6222A= c.12820A= (p.Thr4274=) c.12850A= (p.Thr4284=)
19	g.38565187A>C	CA405672333	RYR1	c.1263A>C c.1245A>C c.12853A>C (p.Thr4285Pro) c.12838A>C (p.Thr4280Pro) c.12835A>C (p.Thr4279Pro) c.6222A>C c.12820A>C (p.Thr4274Pro) c.12850A>C (p.Thr4284Pro)
19	g.38565187A>G	CA405672317	RYR1	c.1263A>G c.1245A>G c.12853A>G (p.Thr4285Ala) c.12838A>G (p.Thr4280Ala) c.12835A>G (p.Thr4279Ala) c.6222A>G c.12820A>G (p.Thr4274Ala) c.12850A>G (p.Thr4284Ala)	dbSNP gnomAD v4
19	g.38565187A>T	CA405672331	RYR1	c.1263A>T c.1245A>T c.12853A>T (p.Thr4285Ser) c.12838A>T (p.Thr4280Ser) c.12835A>T (p.Thr4279Ser) c.6222A>T c.12820A>T (p.Thr4274Ser) c.12850A>T (p.Thr4284Ser)	dbSNP
19	g.38565187_38565198dup	CA915953152	RYR1	c.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
19	g.38565188C>A	CA405672335	RYR1	c.1264C>A c.1246C>A c.12854C>A (p.Thr4285Lys) c.12839C>A (p.Thr4280Lys) c.12836C>A (p.Thr4279Lys) c.6223C>A c.12821C>A (p.Thr4274Lys) c.12851C>A (p.Thr4284Lys)	gnomAD v4
19	g.38565188C>G	CA405672336	RYR1	c.1264C>G c.1246C>G c.12854C>G (p.Thr4285Arg) c.12839C>G (p.Thr4280Arg) c.12836C>G (p.Thr4279Arg) c.6223C>G c.12821C>G (p.Thr4274Arg) c.12851C>G (p.Thr4284Arg)	gnomAD v4
19	g.38565188C>T	CA405672337	RYR1	c.1264C>T c.1246C>T c.12854C>T (p.Thr4285Met) c.12839C>T (p.Thr4280Met) c.12836C>T (p.Thr4279Met) c.6223C>T c.12821C>T (p.Thr4274Met) c.12851C>T (p.Thr4284Met)	ClinVar dbSNP gnomAD v4
19	g.38565189G>A	CA507355456	RYR1	c.1265G>A c.1247G>A c.12855G>A (p.Thr4285=) c.12840G>A (p.Thr4280=) c.12837G>A (p.Thr4279=) c.6224G>A c.12822G>A (p.Thr4274=) c.12852G>A (p.Thr4284=)	ClinVar dbSNP gnomAD v4
19	g.38565189G>C	CA507355455	RYR1	c.1265G>C c.1247G>C c.12855G>C (p.Thr4285=) c.12840G>C (p.Thr4280=) c.12837G>C (p.Thr4279=) c.6224G>C c.12822G>C (p.Thr4274=) c.12852G>C (p.Thr4284=)	gnomAD v4
19	g.38565189G=	CA2335084714	RYR1	c.1265G= c.1247G= c.12855G= (p.Thr4285=) c.12840G= (p.Thr4280=) c.12837G= (p.Thr4279=) c.6224G= c.12822G= (p.Thr4274=) c.12852G= (p.Thr4284=)
19	g.38565189G>T	CA507355454	RYR1	c.1265G>T c.1247G>T c.12855G>T (p.Thr4285=) c.12840G>T (p.Thr4280=) c.12837G>T (p.Thr4279=) c.6224G>T c.12822G>T (p.Thr4274=) c.12852G>T (p.Thr4284=)	gnomAD v4
19	g.38565190G>A	CA405672338	RYR1	c.1266G>A c.1248G>A c.12856G>A (p.Ala4286Thr) c.12841G>A (p.Ala4281Thr) c.12838G>A (p.Ala4280Thr) c.6225G>A c.12823G>A (p.Ala4275Thr) c.12853G>A (p.Ala4285Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.38565190G>C	CA405672339	RYR1	c.1266G>C c.1248G>C c.12856G>C (p.Ala4286Pro) c.12841G>C (p.Ala4281Pro) c.12838G>C (p.Ala4280Pro) c.6225G>C c.12823G>C (p.Ala4275Pro) c.12853G>C (p.Ala4285Pro)
19	g.38565190G=	CA2335084715	RYR1	c.1266G= c.1248G= c.12856G= (p.Ala4286=) c.12841G= (p.Ala4281=) c.12838G= (p.Ala4280=) c.6225G= c.12823G= (p.Ala4275=) c.12853G= (p.Ala4285=)
19	g.38565190G>T	CA405672341	RYR1	c.1266G>T c.1248G>T c.12856G>T (p.Ala4286Ser) c.12841G>T (p.Ala4281Ser) c.12838G>T (p.Ala4280Ser) c.6225G>T c.12823G>T (p.Ala4275Ser) c.12853G>T (p.Ala4285Ser)
19	g.38565191C>A	CA405672343	RYR1	c.1267C>A c.1249C>A c.12857C>A (p.Ala4286Glu) c.12842C>A (p.Ala4281Glu) c.12839C>A (p.Ala4280Glu) c.6226C>A c.12824C>A (p.Ala4275Glu) c.12854C>A (p.Ala4285Glu)	ClinVar dbSNP gnomAD v4
19	g.38565191C=	CA2335084716	RYR1	c.1267C= c.1249C= c.12857C= (p.Ala4286=) c.12842C= (p.Ala4281=) c.12839C= (p.Ala4280=) c.6226C= c.12824C= (p.Ala4275=) c.12854C= (p.Ala4285=)
19	g.38565191C>G	CA405672344	RYR1	c.1267C>G c.1249C>G c.12857C>G (p.Ala4286Gly) c.12842C>G (p.Ala4281Gly) c.12839C>G (p.Ala4280Gly) c.6226C>G c.12824C>G (p.Ala4275Gly) c.12854C>G (p.Ala4285Gly)	ClinVar dbSNP gnomAD v4
19	g.38565191C>T	CA405672345	RYR1	c.1267C>T c.1249C>T c.12857C>T (p.Ala4286Val) c.12842C>T (p.Ala4281Val) c.12839C>T (p.Ala4280Val) c.6226C>T c.12824C>T (p.Ala4275Val) c.12854C>T (p.Ala4285Val)	dbSNP gnomAD v3 gnomAD v4
19	g.38565191_38565192insCTG	CA2584909125	RYR1	c.1267_1268insCTG c.1249_1250insCTG c.12857_12858insCTG (p.Ala4286_Ala4287insTrp) c.12842_12843insCTG (p.Ala4281_Ala4282insTrp) c.12839_12840insCTG (p.Ala4280_Ala4281insTrp) c.6226_6227insCTG c.12824_12825insCTG (p.Ala4275_Ala4276insTrp) c.12854_12855insCTG (p.Ala4285_Ala4286insTrp)	gnomAD v4
19	g.38565192G>A	CA507355462	RYR1	c.1268G>A c.1250G>A c.12858G>A (p.Ala4286=) c.12843G>A (p.Ala4281=) c.12840G>A (p.Ala4280=) c.6227G>A c.12825G>A (p.Ala4275=) c.12855G>A (p.Ala4285=)	dbSNP gnomAD v4
19	g.38565192G>C	CA507355463	RYR1	c.1268G>C c.1250G>C c.12858G>C (p.Ala4286=) c.12843G>C (p.Ala4281=) c.12840G>C (p.Ala4280=) c.6227G>C c.12825G>C (p.Ala4275=) c.12855G>C (p.Ala4285=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565192G=	CA2335084717	RYR1	c.1268G= c.1250G= c.12858G= (p.Ala4286=) c.12843G= (p.Ala4281=) c.12840G= (p.Ala4280=) c.6227G= c.12825G= (p.Ala4275=) c.12855G= (p.Ala4285=)
19	g.38565192G>T	CA507355464	RYR1	c.1268G>T c.1250G>T c.12858G>T (p.Ala4286=) c.12843G>T (p.Ala4281=) c.12840G>T (p.Ala4280=) c.6227G>T c.12825G>T (p.Ala4275=) c.12855G>T (p.Ala4285=)	gnomAD v4
19	g.38565193dup	CA2584909124	RYR1	c.1269dup c.1251dup c.12859dup (p.Ala4287GlyfsTer?) c.12844dup (p.Ala4282GlyfsTer?) c.12841dup (p.Ala4281GlyfsTer?) c.6228dup c.12826dup (p.Ala4276GlyfsTer?) c.12856dup (p.Ala4286GlyfsTer?)	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.38565193G>A	CA405672349	RYR1	c.1269G>A c.1251G>A c.12859G>A (p.Ala4287Thr) c.12844G>A (p.Ala4282Thr) c.12841G>A (p.Ala4281Thr) c.6228G>A c.12826G>A (p.Ala4276Thr) c.12856G>A (p.Ala4286Thr)	gnomAD v4
19	g.38565193G>C	CA405672346	RYR1	c.1269G>C c.1251G>C c.12859G>C (p.Ala4287Pro) c.12844G>C (p.Ala4282Pro) c.12841G>C (p.Ala4281Pro) c.6228G>C c.12826G>C (p.Ala4276Pro) c.12856G>C (p.Ala4286Pro)
19	g.38565193G>T	CA405672347	RYR1	c.1269G>T c.1251G>T c.12859G>T (p.Ala4287Ser) c.12844G>T (p.Ala4282Ser) c.12841G>T (p.Ala4281Ser) c.6228G>T c.12826G>T (p.Ala4276Ser) c.12856G>T (p.Ala4286Ser)	gnomAD v4
19	g.38565193_38565194insGGCTCGAG	CA2584909126	RYR1	c.1269_1270insGGCTCGAG c.1251_1252insGGCTCGAG c.12859_12860insGGCTCGAG (p.Ala4287GlyfsTer?) c.12844_12845insGGCTCGAG (p.Ala4282GlyfsTer?) c.12841_12842insGGCTCGAG (p.Ala4281GlyfsTer?) c.6228_6229insGGCTCGAG c.12826_12827insGGCTCGAG (p.Ala4276GlyfsTer?) c.12856_12857insGGCTCGAG (p.Ala4286GlyfsTer?)	gnomAD v4
19	g.38565193_38565196delinsGCCA	CA2335084719	RYR1	c.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=)
19	g.38565193_38565203delinsGCCACGGCGGC	CA2335084718	RYR1	c.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=)
19	g.38565194C>A	CA405672351	RYR1	c.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
19	g.38565194C=	CA2335084720	RYR1	c.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=)
19	g.38565194C>G	CA405672354	RYR1	c.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
19	g.38565194C>T	CA405672355	RYR1	c.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
19	g.38565194_38565197del	CA2584909127	RYR1	c.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
19	g.38565195_38565197del	CA633066821	RYR1	c.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
19	g.38565194_38565203delinsT	CA248295	RYR1	c.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
19	g.38565195C>A	CA507355469	RYR1	c.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=)
19	g.38565195C=	CA2335084721	RYR1	c.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=)
19	g.38565195C>G	CA507355470	RYR1	c.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=)
19	g.38565195C>T	CA507355471	RYR1	c.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
19	g.38565196A>C	CA405672358	RYR1	c.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)
19	g.38565196A>G	CA405672361	RYR1	c.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
19	g.38565196A>T	CA405672364	RYR1	c.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
19	g.38565196_38565202delinsACGGCGG	CA2335084722	RYR1	c.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=)
19	g.38565196_38565204del	CA2576772097	RYR1	c.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)
19	g.38565197C>A	CA405672366	RYR1	c.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
19	g.38565197C=	CA2335084723	RYR1	c.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=)
19	g.38565197C>G	CA405672369	RYR1	c.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)
19	g.38565197C>T	CA308109304	RYR1	c.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
19	g.38565206_38565208dup	CA882058555	RYR1	c.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
19	g.38565206_38565208del	CA2335084724	RYR1	c.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
19	g.38565203_38565208del	CA633066822	RYR1	c.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
19	g.38565198G>A	CA507355474	RYR1	c.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
19	g.38565198G>C	CA507355475	RYR1	c.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=)
19	g.38565198G=	CA2335084725	RYR1	c.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=)
19	g.38565198G>T	CA507355476	RYR1	c.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
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.38565199G>A	CA405672373	RYR1	c.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
19	g.38565199G>C	CA405672377	RYR1	c.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)
19	g.38565199G>T	CA405672375	RYR1	c.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)
19	g.38565200C>A	CA405672380	RYR1	c.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
19	g.38565200C>G	CA405672382	RYR1	c.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
19	g.38565200C>T	CA405672383	RYR1	c.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
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.38565201G>A	CA507355481	RYR1	c.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
19	g.38565201G>C	CA507355482	RYR1	c.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=)
19	g.38565201G=	CA2335084727	RYR1	c.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=)
19	g.38565201G>T	CA507355485	RYR1	c.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
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.38565202G>A	CA405672385	RYR1	c.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
19	g.38565202G>C	CA405672386	RYR1	c.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
19	g.38565202G=	CA2335084728	RYR1	c.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=)
19	g.38565202G>T	CA405672389	RYR1	c.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
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.38565203C>A	CA405672391	RYR1	c.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)
19	g.38565203C=	CA2335084730	RYR1	c.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=)
19	g.38565203C>G	CA405672392	RYR1	c.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
19	g.38565203C>T	CA059496	RYR1	c.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
19	g.38565203_38565204insCAC	CA2573332874	RYR1	c.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
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.38565204G>A	CA308109310	RYR1	c.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
19	g.38565204G>C	CA507355491	RYR1	c.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
19	g.38565204G=	CA2335084731	RYR1	c.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=)
19	g.38565204G>T	CA507355492	RYR1	c.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
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.38565205G>A	CA405672396	RYR1	c.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
19	g.38565205G>C	CA405672399	RYR1	c.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)
19	g.38565205G>T	CA405672400	RYR1	c.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
19	g.38565206C>A	CA405672407	RYR1	c.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
19	g.38565206C>G	CA405672403	RYR1	c.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
19	g.38565206C>T	CA080773	RYR1	c.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
19	g.38565206_38565207delinsCG	CA2335084732	RYR1	c.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=)
19	g.38565207G>A	CA507355497	RYR1	c.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
19	g.38565207G>C	CA507355499	RYR1	c.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=)
19	g.38565207G=	CA2335084734	RYR1	c.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=)
19	g.38565207G>T	CA507355494	RYR1	c.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
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.38565208G>A	CA405672408	RYR1	c.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
19	g.38565208G>C	CA405672410	RYR1	c.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)
19	g.38565208G=	CA2335084735	RYR1	c.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=)
19	g.38565208G>T	CA405672411	RYR1	c.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)
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

Number of alleles fetched