Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.38565260_38565263del	CA2576772100	RYR1	c.1336_1339del c.1318_1321del c.12926_12929del (p.Ser4309ThrfsTer?) c.12911_12914del (p.Ser4304ThrfsTer?) c.12908_12911del (p.Ser4303ThrfsTer?) c.12893_12896del (p.Ser4298ThrfsTer?) c.12923_12926del (p.Ser4308ThrfsTer?)	ClinVar
19	g.38565262T>A	CA405672622	RYR1	c.1338T>A c.1320T>A c.12928T>A (p.Tyr4310Asn) c.12913T>A (p.Tyr4305Asn) c.12910T>A (p.Tyr4304Asn) c.12895T>A (p.Tyr4299Asn) c.12925T>A (p.Tyr4309Asn)
19	g.38565262T>C	CA405672623	RYR1	c.1338T>C c.1320T>C c.12928T>C (p.Tyr4310His) c.12913T>C (p.Tyr4305His) c.12910T>C (p.Tyr4304His) c.12895T>C (p.Tyr4299His) c.12925T>C (p.Tyr4309His)	gnomAD v4
19	g.38565262T>G	CA405672619	RYR1	c.1338T>G c.1320T>G c.12928T>G (p.Tyr4310Asp) c.12913T>G (p.Tyr4305Asp) c.12910T>G (p.Tyr4304Asp) c.12895T>G (p.Tyr4299Asp) c.12925T>G (p.Tyr4309Asp)
19	g.38565263A>C	CA405672625	RYR1	c.1339A>C c.1321A>C c.12929A>C (p.Tyr4310Ser) c.12914A>C (p.Tyr4305Ser) c.12911A>C (p.Tyr4304Ser) c.12896A>C (p.Tyr4299Ser) c.12926A>C (p.Tyr4309Ser)	gnomAD v4
19	g.38565263A>G	CA405672628	RYR1	c.1339A>G c.1321A>G c.12929A>G (p.Tyr4310Cys) c.12914A>G (p.Tyr4305Cys) c.12911A>G (p.Tyr4304Cys) c.12896A>G (p.Tyr4299Cys) c.12926A>G (p.Tyr4309Cys)
19	g.38565263A>T	CA405672630	RYR1	c.1339A>T c.1321A>T c.12929A>T (p.Tyr4310Phe) c.12914A>T (p.Tyr4305Phe) c.12911A>T (p.Tyr4304Phe) c.12896A>T (p.Tyr4299Phe) c.12926A>T (p.Tyr4309Phe)
19	g.38565264C>A	CA405672633	RYR1	c.1340C>A c.1322C>A c.12930C>A (p.Tyr4310Ter) c.12915C>A (p.Tyr4305Ter) c.12912C>A (p.Tyr4304Ter) c.12897C>A (p.Tyr4299Ter) c.12927C>A (p.Tyr4309Ter)
19	g.38565264C>G	CA405672634	RYR1	c.1340C>G c.1322C>G c.12930C>G (p.Tyr4310Ter) c.12915C>G (p.Tyr4305Ter) c.12912C>G (p.Tyr4304Ter) c.12897C>G (p.Tyr4299Ter) c.12927C>G (p.Tyr4309Ter)
19	g.38565264C>T	CA507355628	RYR1	c.1340C>T c.1322C>T c.12930C>T (p.Tyr4310=) c.12915C>T (p.Tyr4305=) c.12912C>T (p.Tyr4304=) c.12897C>T (p.Tyr4299=) c.12927C>T (p.Tyr4309=)	gnomAD v4
19	g.38565265C>A	CA405672636	RYR1	c.1341C>A c.1323C>A c.12931C>A (p.Arg4311Ser) c.12916C>A (p.Arg4306Ser) c.12913C>A (p.Arg4305Ser) c.12898C>A (p.Arg4300Ser) c.12928C>A (p.Arg4310Ser)	ClinVar dbSNP gnomAD v4
19	g.38565265C=	CA2335084772	RYR1	c.1341C= c.1323C= c.12931C= (p.Arg4311=) c.12916C= (p.Arg4306=) c.12913C= (p.Arg4305=) c.12898C= (p.Arg4300=) c.12928C= (p.Arg4310=)
19	g.38565265C>G	CA405672638	RYR1	c.1341C>G c.1323C>G c.12931C>G (p.Arg4311Gly) c.12916C>G (p.Arg4306Gly) c.12913C>G (p.Arg4305Gly) c.12898C>G (p.Arg4300Gly) c.12928C>G (p.Arg4310Gly)	gnomAD v4
19	g.38565265C>T	CA405672640	RYR1	c.1341C>T c.1323C>T c.12931C>T (p.Arg4311Cys) c.12916C>T (p.Arg4306Cys) c.12913C>T (p.Arg4305Cys) c.12898C>T (p.Arg4300Cys) c.12928C>T (p.Arg4310Cys)	dbSNP gnomAD v4
19	g.38565266G>A	CA405672643	RYR1	c.1342G>A c.1324G>A c.12932G>A (p.Arg4311His) c.12917G>A (p.Arg4306His) c.12914G>A (p.Arg4305His) c.12899G>A (p.Arg4300His) c.12929G>A (p.Arg4310His)	gnomAD v4
19	g.38565266G>C	CA405672644	RYR1	c.1342G>C c.1324G>C c.12932G>C (p.Arg4311Pro) c.12917G>C (p.Arg4306Pro) c.12914G>C (p.Arg4305Pro) c.12899G>C (p.Arg4300Pro) c.12929G>C (p.Arg4310Pro)	gnomAD v4
19	g.38565266G>T	CA405672646	RYR1	c.1342G>T c.1324G>T c.12932G>T (p.Arg4311Leu) c.12917G>T (p.Arg4306Leu) c.12914G>T (p.Arg4305Leu) c.12899G>T (p.Arg4300Leu) c.12929G>T (p.Arg4310Leu)	gnomAD v4
19	g.38565267C>A	CA507355633	RYR1	c.1343C>A c.1325C>A c.12933C>A (p.Arg4311=) c.12918C>A (p.Arg4306=) c.12915C>A (p.Arg4305=) c.12900C>A (p.Arg4300=) c.12930C>A (p.Arg4310=)	gnomAD v4
19	g.38565267C>G	CA507355635	RYR1	c.1343C>G c.1325C>G c.12933C>G (p.Arg4311=) c.12918C>G (p.Arg4306=) c.12915C>G (p.Arg4305=) c.12900C>G (p.Arg4300=) c.12930C>G (p.Arg4310=)
19	g.38565267C>T	CA507355637	RYR1	c.1343C>T c.1325C>T c.12933C>T (p.Arg4311=) c.12918C>T (p.Arg4306=) c.12915C>T (p.Arg4305=) c.12900C>T (p.Arg4300=) c.12930C>T (p.Arg4310=)	ClinVar gnomAD v4
19	g.38565268A>C	CA405672652	RYR1	c.1344A>C c.1326A>C c.12934A>C (p.Ser4312Arg) c.12919A>C (p.Ser4307Arg) c.12916A>C (p.Ser4306Arg) c.12901A>C (p.Ser4301Arg) c.12931A>C (p.Ser4311Arg)
19	g.38565268A>G	CA405672651	RYR1	c.1344A>G c.1326A>G c.12934A>G (p.Ser4312Gly) c.12919A>G (p.Ser4307Gly) c.12916A>G (p.Ser4306Gly) c.12901A>G (p.Ser4301Gly) c.12931A>G (p.Ser4311Gly)
19	g.38565268A>T	CA405672650	RYR1	c.1344A>T c.1326A>T c.12934A>T (p.Ser4312Cys) c.12919A>T (p.Ser4307Cys) c.12916A>T (p.Ser4306Cys) c.12901A>T (p.Ser4301Cys) c.12931A>T (p.Ser4311Cys)
19	g.38565268_38565280delinsAGCCTGCGGCGGC	CA2335084773	RYR1	c.1344_1356delinsAGCCTGCGGCGGC c.1326_1338delinsAGCCTGCGGCGGC c.12934_12946delinsAGCCTGCGGCGGC (p.Ser4312=) c.12919_12931delinsAGCCTGCGGCGGC (p.Ser4307=) c.12916_12928delinsAGCCTGCGGCGGC (p.Ser4306=) c.12901_12913delinsAGCCTGCGGCGGC (p.Ser4301=) c.12931_12943delinsAGCCTGCGGCGGC (p.Ser4311=)
19	g.38565269G>A	CA405672653	RYR1	c.1345G>A c.1327G>A c.12935G>A (p.Ser4312Asn) c.12920G>A (p.Ser4307Asn) c.12917G>A (p.Ser4306Asn) c.12902G>A (p.Ser4301Asn) c.12932G>A (p.Ser4311Asn)	gnomAD v4
19	g.38565269G>C	CA405672654	RYR1	c.1345G>C c.1327G>C c.12935G>C (p.Ser4312Thr) c.12920G>C (p.Ser4307Thr) c.12917G>C (p.Ser4306Thr) c.12902G>C (p.Ser4301Thr) c.12932G>C (p.Ser4311Thr)
19	g.38565269G>T	CA405672657	RYR1	c.1345G>T c.1327G>T c.12935G>T (p.Ser4312Ile) c.12920G>T (p.Ser4307Ile) c.12917G>T (p.Ser4306Ile) c.12902G>T (p.Ser4301Ile) c.12932G>T (p.Ser4311Ile)	gnomAD v4
19	g.38565271_38565282del	CA882058704	RYR1	c.1347_1358del c.1329_1340del c.12937_12948del (p.Leu4313_Arg4316del) c.12922_12933del (p.Leu4308_Arg4311del) c.12919_12930del (p.Leu4307_Arg4310del) c.12904_12915del (p.Leu4302_Arg4305del) c.12934_12945del (p.Leu4312_Arg4315del)	dbSNP
19	g.38565270_38565290dup	CA2580097183	RYR1	c.1346_1366dup c.1328_1348dup c.12936_12956dup (p.Arg4319_Leu4320insLeuArgArgArgValArgArg) c.12921_12941dup (p.Arg4314_Leu4315insLeuArgArgArgValArgArg) c.12918_12938dup (p.Arg4313_Leu4314insLeuArgArgArgValArgArg) c.12903_12923dup (p.Arg4308_Leu4309insLeuArgArgArgValArgArg) c.12933_12953dup (p.Arg4318_Leu4319insLeuArgArgArgValArgArg)	ClinVar
19	g.38565270C>A	CA405672658	RYR1	c.1346C>A c.1328C>A c.12936C>A (p.Ser4312Arg) c.12921C>A (p.Ser4307Arg) c.12918C>A (p.Ser4306Arg) c.12903C>A (p.Ser4301Arg) c.12933C>A (p.Ser4311Arg)	gnomAD v4
19	g.38565270C=	CA2335084774	RYR1	c.1346C= c.1328C= c.12936C= (p.Ser4312=) c.12921C= (p.Ser4307=) c.12918C= (p.Ser4306=) c.12903C= (p.Ser4301=) c.12933C= (p.Ser4311=)
19	g.38565270C>G	CA405672661	RYR1	c.1346C>G c.1328C>G c.12936C>G (p.Ser4312Arg) c.12921C>G (p.Ser4307Arg) c.12918C>G (p.Ser4306Arg) c.12903C>G (p.Ser4301Arg) c.12933C>G (p.Ser4311Arg)	gnomAD v4
19	g.38565270C>T	CA507355646	RYR1	c.1346C>T c.1328C>T c.12936C>T (p.Ser4312=) c.12921C>T (p.Ser4307=) c.12918C>T (p.Ser4306=) c.12903C>T (p.Ser4301=) c.12933C>T (p.Ser4311=)
19	g.38565271C>A	CA405672662	RYR1	c.1347C>A c.1329C>A c.12937C>A (p.Leu4313Met) c.12922C>A (p.Leu4308Met) c.12919C>A (p.Leu4307Met) c.12904C>A (p.Leu4302Met) c.12934C>A (p.Leu4312Met)	gnomAD v4
19	g.38565271C=	CA2335084776	RYR1	c.1347C= c.1329C= c.12937C= (p.Leu4313=) c.12922C= (p.Leu4308=) c.12919C= (p.Leu4307=) c.12904C= (p.Leu4302=) c.12934C= (p.Leu4312=)
19	g.38565271C>G	CA405672665	RYR1	c.1347C>G c.1329C>G c.12937C>G (p.Leu4313Val) c.12922C>G (p.Leu4308Val) c.12919C>G (p.Leu4307Val) c.12904C>G (p.Leu4302Val) c.12934C>G (p.Leu4312Val)
19	g.38565271C>T	CA507355647	RYR1	c.1347C>T c.1329C>T c.12937C>T (p.Leu4313=) c.12922C>T (p.Leu4308=) c.12919C>T (p.Leu4307=) c.12904C>T (p.Leu4302=) c.12934C>T (p.Leu4312=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565271_38565283delinsCTGCGGCGGCGCG	CA2335084775	RYR1	c.1347_1359delinsCTGCGGCGGCGCG c.1329_1341delinsCTGCGGCGGCGCG c.12937_12949delinsCTGCGGCGGCGCG (p.Leu4313=) c.12922_12934delinsCTGCGGCGGCGCG (p.Leu4308=) c.12919_12931delinsCTGCGGCGGCGCG (p.Leu4307=) c.12904_12916delinsCTGCGGCGGCGCG (p.Leu4302=) c.12934_12946delinsCTGCGGCGGCGCG (p.Leu4312=)
19	g.38565281_38565301dup	CA633066824	RYR1	c.1357_1377dup c.1339_1359dup c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg) c.12932_12952dup (p.Arg4317_Leu4318insArgValArgArgLeuArgArg) c.12929_12949dup (p.Arg4316_Leu4317insArgValArgArgLeuArgArg) c.12914_12934dup (p.Arg4311_Leu4312insArgValArgArgLeuArgArg) c.12944_12964dup (p.Arg4321_Leu4322insArgValArgArgLeuArgArg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565281_38565301del	CA2584909133	RYR1	c.1357_1377del c.1339_1359del c.12947_12967del (p.Arg4316_Arg4322del) c.12932_12952del (p.Arg4311_Arg4317del) c.12929_12949del (p.Arg4310_Arg4316del) c.12914_12934del (p.Arg4305_Arg4311del) c.12944_12964del (p.Arg4315_Arg4321del)	gnomAD v4
19	g.38565272T>A	CA405672666	RYR1	c.1348T>A c.1330T>A c.12938T>A (p.Leu4313Gln) c.12923T>A (p.Leu4308Gln) c.12920T>A (p.Leu4307Gln) c.12905T>A (p.Leu4302Gln) c.12935T>A (p.Leu4312Gln)	gnomAD v4
19	g.38565272T>C	CA405672668	RYR1	c.1348T>C c.1330T>C c.12938T>C (p.Leu4313Pro) c.12923T>C (p.Leu4308Pro) c.12920T>C (p.Leu4307Pro) c.12905T>C (p.Leu4302Pro) c.12935T>C (p.Leu4312Pro)	gnomAD v4
19	g.38565272T>G	CA405672671	RYR1	c.1348T>G c.1330T>G c.12938T>G (p.Leu4313Arg) c.12923T>G (p.Leu4308Arg) c.12920T>G (p.Leu4307Arg) c.12905T>G (p.Leu4302Arg) c.12935T>G (p.Leu4312Arg)
19	g.38565281_38565292dup	CA633066826	RYR1	c.1357_1368dup c.1339_1350dup c.12947_12958dup (p.Arg4319_Leu4320insArgValArgArg) c.12932_12943dup (p.Arg4314_Leu4315insArgValArgArg) c.12929_12940dup (p.Arg4313_Leu4314insArgValArgArg) c.12914_12925dup (p.Arg4308_Leu4309insArgValArgArg) c.12944_12955dup (p.Arg4318_Leu4319insArgValArgArg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565281_38565292del	CA633066825	RYR1	c.1357_1368del c.1339_1350del c.12947_12958del (p.Arg4316_Arg4319del) c.12932_12943del (p.Arg4311_Arg4314del) c.12929_12940del (p.Arg4310_Arg4313del) c.12914_12925del (p.Arg4305_Arg4308del) c.12944_12955del (p.Arg4315_Arg4318del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565273G>A	CA507355650	RYR1	c.1349G>A c.1331G>A c.12939G>A (p.Leu4313=) c.12924G>A (p.Leu4308=) c.12921G>A (p.Leu4307=) c.12906G>A (p.Leu4302=) c.12936G>A (p.Leu4312=)	ClinVar gnomAD v4
19	g.38565273G>C	CA507355652	RYR1	c.1349G>C c.1331G>C c.12939G>C (p.Leu4313=) c.12924G>C (p.Leu4308=) c.12921G>C (p.Leu4307=) c.12906G>C (p.Leu4302=) c.12936G>C (p.Leu4312=)
19	g.38565273G>T	CA507355653	RYR1	c.1349G>T c.1331G>T c.12939G>T (p.Leu4313=) c.12924G>T (p.Leu4308=) c.12921G>T (p.Leu4307=) c.12906G>T (p.Leu4302=) c.12936G>T (p.Leu4312=)	gnomAD v4
19	g.38565279_38565281del	CA2584909134	RYR1	c.1355_1357del c.1337_1339del c.12945_12947del (p.Arg4316del) c.12930_12932del (p.Arg4311del) c.12927_12929del (p.Arg4310del) c.12912_12914del (p.Arg4305del) c.12942_12944del (p.Arg4315del)	gnomAD v4
19	g.38565274C>A	CA507355654	RYR1	c.1350C>A c.1332C>A c.12940C>A (p.Arg4314=) c.12925C>A (p.Arg4309=) c.12922C>A (p.Arg4308=) c.12907C>A (p.Arg4303=) c.12937C>A (p.Arg4313=)
19	g.38565274C=	CA2335084777	RYR1	c.1350C= c.1332C= c.12940C= (p.Arg4314=) c.12925C= (p.Arg4309=) c.12922C= (p.Arg4308=) c.12907C= (p.Arg4303=) c.12937C= (p.Arg4313=)
19	g.38565274C>G	CA405672672	RYR1	c.1350C>G c.1332C>G c.12940C>G (p.Arg4314Gly) c.12925C>G (p.Arg4309Gly) c.12922C>G (p.Arg4308Gly) c.12907C>G (p.Arg4303Gly) c.12937C>G (p.Arg4313Gly)
19	g.38565274C>T	CA405672674	RYR1	c.1350C>T c.1332C>T c.12940C>T (p.Arg4314Trp) c.12925C>T (p.Arg4309Trp) c.12922C>T (p.Arg4308Trp) c.12907C>T (p.Arg4303Trp) c.12937C>T (p.Arg4313Trp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565275G>A	CA405672676	RYR1	c.1351G>A c.1333G>A c.12941G>A (p.Arg4314Gln) c.12926G>A (p.Arg4309Gln) c.12923G>A (p.Arg4308Gln) c.12908G>A (p.Arg4303Gln) c.12938G>A (p.Arg4313Gln)	gnomAD v4
19	g.38565275G>C	CA405672680	RYR1	c.1351G>C c.1333G>C c.12941G>C (p.Arg4314Pro) c.12926G>C (p.Arg4309Pro) c.12923G>C (p.Arg4308Pro) c.12908G>C (p.Arg4303Pro) c.12938G>C (p.Arg4313Pro)
19	g.38565275G>T	CA405672678	RYR1	c.1351G>T c.1333G>T c.12941G>T (p.Arg4314Leu) c.12926G>T (p.Arg4309Leu) c.12923G>T (p.Arg4308Leu) c.12908G>T (p.Arg4303Leu) c.12938G>T (p.Arg4313Leu)	gnomAD v4
19	g.38565276G>A	CA507355657	RYR1	c.1352G>A c.1334G>A c.12942G>A (p.Arg4314=) c.12927G>A (p.Arg4309=) c.12924G>A (p.Arg4308=) c.12909G>A (p.Arg4303=) c.12939G>A (p.Arg4313=)	gnomAD v4
19	g.38565276G>C	CA507355658	RYR1	c.1352G>C c.1334G>C c.12942G>C (p.Arg4314=) c.12927G>C (p.Arg4309=) c.12924G>C (p.Arg4308=) c.12909G>C (p.Arg4303=) c.12939G>C (p.Arg4313=)
19	g.38565276G>T	CA507355659	RYR1	c.1352G>T c.1334G>T c.12942G>T (p.Arg4314=) c.12927G>T (p.Arg4309=) c.12924G>T (p.Arg4308=) c.12909G>T (p.Arg4303=) c.12939G>T (p.Arg4313=)
19	g.38565277del	CA2584909135	RYR1	c.1353del c.1335del c.12943del (p.Arg4315GlyfsTer26) c.12928del (p.Arg4310GlyfsTer26) c.12925del (p.Arg4309GlyfsTer26) c.12910del (p.Arg4304GlyfsTer26) c.12940del (p.Arg4314GlyfsTer26)	gnomAD v4
19	g.38565277C>A	CA507355660	RYR1	c.1353C>A c.1335C>A c.12943C>A (p.Arg4315=) c.12928C>A (p.Arg4310=) c.12925C>A (p.Arg4309=) c.12910C>A (p.Arg4304=) c.12940C>A (p.Arg4314=)	gnomAD v4
19	g.38565277C=	CA2335084778	RYR1	c.1353C= c.1335C= c.12943C= (p.Arg4315=) c.12928C= (p.Arg4310=) c.12925C= (p.Arg4309=) c.12910C= (p.Arg4304=) c.12940C= (p.Arg4314=)
19	g.38565277C>G	CA405672683	RYR1	c.1353C>G c.1335C>G c.12943C>G (p.Arg4315Gly) c.12928C>G (p.Arg4310Gly) c.12925C>G (p.Arg4309Gly) c.12910C>G (p.Arg4304Gly) c.12940C>G (p.Arg4314Gly)
19	g.38565277C>T	CA405672686	RYR1	c.1353C>T c.1335C>T c.12943C>T (p.Arg4315Trp) c.12928C>T (p.Arg4310Trp) c.12925C>T (p.Arg4309Trp) c.12910C>T (p.Arg4304Trp) c.12940C>T (p.Arg4314Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565278G>A	CA308109374	RYR1	c.1354G>A c.1336G>A c.12944G>A (p.Arg4315Gln) c.12929G>A (p.Arg4310Gln) c.12926G>A (p.Arg4309Gln) c.12911G>A (p.Arg4304Gln) c.12941G>A (p.Arg4314Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565278G>C	CA405672688	RYR1	c.1354G>C c.1336G>C c.12944G>C (p.Arg4315Pro) c.12929G>C (p.Arg4310Pro) c.12926G>C (p.Arg4309Pro) c.12911G>C (p.Arg4304Pro) c.12941G>C (p.Arg4314Pro)	gnomAD v4
19	g.38565278G=	CA2335084779	RYR1	c.1354G= c.1336G= c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12926G= (p.Arg4309=) c.12911G= (p.Arg4304=) c.12941G= (p.Arg4314=)
19	g.38565278G>T	CA405672687	RYR1	c.1354G>T c.1336G>T c.12944G>T (p.Arg4315Leu) c.12929G>T (p.Arg4310Leu) c.12926G>T (p.Arg4309Leu) c.12911G>T (p.Arg4304Leu) c.12941G>T (p.Arg4314Leu)	ClinVar dbSNP gnomAD v4
19	g.38565279G>A	CA507355667	RYR1	c.1355G>A c.1337G>A c.12945G>A (p.Arg4315=) c.12930G>A (p.Arg4310=) c.12927G>A (p.Arg4309=) c.12912G>A (p.Arg4304=) c.12942G>A (p.Arg4314=)	gnomAD v4
19	g.38565279G>C	CA507355669	RYR1	c.1355G>C c.1337G>C c.12945G>C (p.Arg4315=) c.12930G>C (p.Arg4310=) c.12927G>C (p.Arg4309=) c.12912G>C (p.Arg4304=) c.12942G>C (p.Arg4314=)
19	g.38565279G>T	CA507355672	RYR1	c.1355G>T c.1337G>T c.12945G>T (p.Arg4315=) c.12930G>T (p.Arg4310=) c.12927G>T (p.Arg4309=) c.12912G>T (p.Arg4304=) c.12942G>T (p.Arg4314=)	gnomAD v4
19	g.38565280C>A	CA405672689	RYR1	c.1356C>A c.1338C>A c.12946C>A (p.Arg4316Ser) c.12931C>A (p.Arg4311Ser) c.12928C>A (p.Arg4310Ser) c.12913C>A (p.Arg4305Ser) c.12943C>A (p.Arg4315Ser)	gnomAD v4
19	g.38565280C>G	CA405672690	RYR1	c.1356C>G c.1338C>G c.12946C>G (p.Arg4316Gly) c.12931C>G (p.Arg4311Gly) c.12928C>G (p.Arg4310Gly) c.12913C>G (p.Arg4305Gly) c.12943C>G (p.Arg4315Gly)
19	g.38565280C>T	CA405672691	RYR1	c.1356C>T c.1338C>T c.12946C>T (p.Arg4316Cys) c.12931C>T (p.Arg4311Cys) c.12928C>T (p.Arg4310Cys) c.12913C>T (p.Arg4305Cys) c.12943C>T (p.Arg4315Cys)	gnomAD v4
19	g.38565281G>A	CA308109382	RYR1	c.1357G>A c.1339G>A c.12947G>A (p.Arg4316His) c.12932G>A (p.Arg4311His) c.12929G>A (p.Arg4310His) c.12914G>A (p.Arg4305His) c.12944G>A (p.Arg4315His)	dbSNP gnomAD v3 gnomAD v4
19	g.38565281G>C	CA405672692	RYR1	c.1357G>C c.1339G>C c.12947G>C (p.Arg4316Pro) c.12932G>C (p.Arg4311Pro) c.12929G>C (p.Arg4310Pro) c.12914G>C (p.Arg4305Pro) c.12944G>C (p.Arg4315Pro)
19	g.38565281G=	CA2335084780	RYR1	c.1357G= c.1339G= c.12947G= (p.Arg4316=) c.12932G= (p.Arg4311=) c.12929G= (p.Arg4310=) c.12914G= (p.Arg4305=) c.12944G= (p.Arg4315=)
19	g.38565281G>T	CA405672694	RYR1	c.1357G>T c.1339G>T c.12947G>T (p.Arg4316Leu) c.12932G>T (p.Arg4311Leu) c.12929G>T (p.Arg4310Leu) c.12914G>T (p.Arg4305Leu) c.12944G>T (p.Arg4315Leu)	gnomAD v4
19	g.38565281_38565283del	CA2814346163	RYR1	c.1357_1359del c.1339_1341del c.12947_12949del (p.Arg4316_Val4317delinsLeu) c.12932_12934del (p.Arg4311_Val4312delinsLeu) c.12929_12931del (p.Arg4310_Val4311delinsLeu) c.12914_12916del (p.Arg4305_Val4306delinsLeu) c.12944_12946del (p.Arg4315_Val4316delinsLeu)
19	g.38565282C>A	CA507355678	RYR1	c.1358C>A c.1340C>A c.12948C>A (p.Arg4316=) c.12933C>A (p.Arg4311=) c.12930C>A (p.Arg4310=) c.12915C>A (p.Arg4305=) c.12945C>A (p.Arg4315=)	gnomAD v4
19	g.38565282C=	CA2335084781	RYR1	c.1358C= c.1340C= c.12948C= (p.Arg4316=) c.12933C= (p.Arg4311=) c.12930C= (p.Arg4310=) c.12915C= (p.Arg4305=) c.12945C= (p.Arg4315=)
19	g.38565282C>G	CA507355680	RYR1	c.1358C>G c.1340C>G c.12948C>G (p.Arg4316=) c.12933C>G (p.Arg4311=) c.12930C>G (p.Arg4310=) c.12915C>G (p.Arg4305=) c.12945C>G (p.Arg4315=)
19	g.38565282C>T	CA507355679	RYR1	c.1358C>T c.1340C>T c.12948C>T (p.Arg4316=) c.12933C>T (p.Arg4311=) c.12930C>T (p.Arg4310=) c.12915C>T (p.Arg4305=) c.12945C>T (p.Arg4315=)	dbSNP gnomAD v4
19	g.38565282_38565283delinsGT	CA2580097187	RYR1	c.1358_1359delinsGT c.1340_1341delinsGT c.12948_12949delinsGT (p.Val4317Leu) c.12933_12934delinsGT (p.Val4312Leu) c.12930_12931delinsGT (p.Val4311Leu) c.12915_12916delinsGT (p.Val4306Leu) c.12945_12946delinsGT (p.Val4316Leu)	ClinVar
19	g.38565283G>A	CA308109394	RYR1	c.1359G>A c.1341G>A c.12949G>A (p.Val4317Met) c.12934G>A (p.Val4312Met) c.12931G>A (p.Val4311Met) c.12916G>A (p.Val4306Met) c.12946G>A (p.Val4316Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38565283G>C	CA405672696	RYR1	c.1359G>C c.1341G>C c.12949G>C (p.Val4317Leu) c.12934G>C (p.Val4312Leu) c.12931G>C (p.Val4311Leu) c.12916G>C (p.Val4306Leu) c.12946G>C (p.Val4316Leu)	gnomAD v4
19	g.38565283G=	CA2335084783	RYR1	c.1359G= c.1341G= c.12949G= (p.Val4317=) c.12934G= (p.Val4312=) c.12931G= (p.Val4311=) c.12916G= (p.Val4306=) c.12946G= (p.Val4316=)
19	g.38565283G>T	CA405672697	RYR1	c.1359G>T c.1341G>T c.12949G>T (p.Val4317Leu) c.12934G>T (p.Val4312Leu) c.12931G>T (p.Val4311Leu) c.12916G>T (p.Val4306Leu) c.12946G>T (p.Val4316Leu)
19	g.38565283_38565292delinsGTGCGGCGGC	CA2335084782	RYR1	c.1359_1368delinsGTGCGGCGGC c.1341_1350delinsGTGCGGCGGC c.12949_12958delinsGTGCGGCGGC (p.Val4317=) c.12934_12943delinsGTGCGGCGGC (p.Val4312=) c.12931_12940delinsGTGCGGCGGC (p.Val4311=) c.12916_12925delinsGTGCGGCGGC (p.Val4306=) c.12946_12955delinsGTGCGGCGGC (p.Val4316=)
19	g.38565284T>A	CA405672698	RYR1	c.1360T>A c.1342T>A c.12950T>A (p.Val4317Glu) c.12935T>A (p.Val4312Glu) c.12932T>A (p.Val4311Glu) c.12917T>A (p.Val4306Glu) c.12947T>A (p.Val4316Glu)
19	g.38565284T>C	CA405672699	RYR1	c.1360T>C c.1342T>C c.12950T>C (p.Val4317Ala) c.12935T>C (p.Val4312Ala) c.12932T>C (p.Val4311Ala) c.12917T>C (p.Val4306Ala) c.12947T>C (p.Val4316Ala)	gnomAD v4
19	g.38565284T>G	CA405672700	RYR1	c.1360T>G c.1342T>G c.12950T>G (p.Val4317Gly) c.12935T>G (p.Val4312Gly) c.12932T>G (p.Val4311Gly) c.12917T>G (p.Val4306Gly) c.12947T>G (p.Val4316Gly)
19	g.38565294_38565302dup	CA024023	RYR1	c.1370_1378dup c.1352_1360dup c.12960_12968dup (p.Leu4323_Thr4324insArgArgLeu) c.12945_12953dup (p.Leu4318_Thr4319insArgArgLeu) c.12942_12950dup (p.Leu4317_Thr4318insArgArgLeu) c.12927_12935dup (p.Leu4312_Thr4313insArgArgLeu) c.12957_12965dup (p.Leu4322_Thr4323insArgArgLeu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565294_38565302del	CA308109404	RYR1	c.1370_1378del c.1352_1360del c.12960_12968del (p.Arg4321_Leu4323del) c.12945_12953del (p.Arg4316_Leu4318del) c.12942_12950del (p.Arg4315_Leu4317del) c.12927_12935del (p.Arg4310_Leu4312del) c.12957_12965del (p.Arg4320_Leu4322del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565285G>A	CA308109406	RYR1	c.1361G>A c.1343G>A c.12951G>A (p.Val4317=) c.12936G>A (p.Val4312=) c.12933G>A (p.Val4311=) c.12918G>A (p.Val4306=) c.12948G>A (p.Val4316=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565285G>C	CA507355684	RYR1	c.1361G>C c.1343G>C c.12951G>C (p.Val4317=) c.12936G>C (p.Val4312=) c.12933G>C (p.Val4311=) c.12918G>C (p.Val4306=) c.12948G>C (p.Val4316=)
19	g.38565285G=	CA2335084784	RYR1	c.1361G= c.1343G= c.12951G= (p.Val4317=) c.12936G= (p.Val4312=) c.12933G= (p.Val4311=) c.12918G= (p.Val4306=) c.12948G= (p.Val4316=)
19	g.38565285G>T	CA507355685	RYR1	c.1361G>T c.1343G>T c.12951G>T (p.Val4317=) c.12936G>T (p.Val4312=) c.12933G>T (p.Val4311=) c.12918G>T (p.Val4306=) c.12948G>T (p.Val4316=)	gnomAD v4
19	g.38565290_38565301dup	CA2576772101	RYR1	c.1366_1377dup c.1348_1359dup c.12956_12967dup (p.Arg4322_Leu4323insArgLeuArgArg) c.12941_12952dup (p.Arg4317_Leu4318insArgLeuArgArg) c.12938_12949dup (p.Arg4316_Leu4317insArgLeuArgArg) c.12923_12934dup (p.Arg4311_Leu4312insArgLeuArgArg) c.12953_12964dup (p.Arg4321_Leu4322insArgLeuArgArg)	gnomAD v4
19	g.38565286C>A	CA507355686	RYR1	c.1362C>A c.1344C>A c.12952C>A (p.Arg4318=) c.12937C>A (p.Arg4313=) c.12934C>A (p.Arg4312=) c.12919C>A (p.Arg4307=) c.12949C>A (p.Arg4317=)	gnomAD v4
19	g.38565286C=	CA2335084785	RYR1	c.1362C= c.1344C= c.12952C= (p.Arg4318=) c.12937C= (p.Arg4313=) c.12934C= (p.Arg4312=) c.12919C= (p.Arg4307=) c.12949C= (p.Arg4317=)
19	g.38565286C>G	CA405672704	RYR1	c.1362C>G c.1344C>G c.12952C>G (p.Arg4318Gly) c.12937C>G (p.Arg4313Gly) c.12934C>G (p.Arg4312Gly) c.12919C>G (p.Arg4307Gly) c.12949C>G (p.Arg4317Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565286C>T	CA405672702	RYR1	c.1362C>T c.1344C>T c.12952C>T (p.Arg4318Trp) c.12937C>T (p.Arg4313Trp) c.12934C>T (p.Arg4312Trp) c.12919C>T (p.Arg4307Trp) c.12949C>T (p.Arg4317Trp)	dbSNP gnomAD v4
19	g.38565286_38565287insAGT	CA995731594	RYR1	c.1362_1363insAGT c.1344_1345insAGT c.12952_12953insAGT (p.Arg4318delinsGlnTrp) c.12937_12938insAGT (p.Arg4313delinsGlnTrp) c.12934_12935insAGT (p.Arg4312delinsGlnTrp) c.12919_12920insAGT (p.Arg4307delinsGlnTrp) c.12949_12950insAGT (p.Arg4317delinsGlnTrp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565287G>A	CA405672708	RYR1	c.1363G>A c.1345G>A c.12953G>A (p.Arg4318Gln) c.12938G>A (p.Arg4313Gln) c.12935G>A (p.Arg4312Gln) c.12920G>A (p.Arg4307Gln) c.12950G>A (p.Arg4317Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565287G>C	CA405672711	RYR1	c.1363G>C c.1345G>C c.12953G>C (p.Arg4318Pro) c.12938G>C (p.Arg4313Pro) c.12935G>C (p.Arg4312Pro) c.12920G>C (p.Arg4307Pro) c.12950G>C (p.Arg4317Pro)
19	g.38565287G=	CA2335084786	RYR1	c.1363G= c.1345G= c.12953G= (p.Arg4318=) c.12938G= (p.Arg4313=) c.12935G= (p.Arg4312=) c.12920G= (p.Arg4307=) c.12950G= (p.Arg4317=)
19	g.38565287G>T	CA405672712	RYR1	c.1363G>T c.1345G>T c.12953G>T (p.Arg4318Leu) c.12938G>T (p.Arg4313Leu) c.12935G>T (p.Arg4312Leu) c.12920G>T (p.Arg4307Leu) c.12950G>T (p.Arg4317Leu)
19	g.38565293_38565320del	CA2584909136	RYR1	c.1369_1396del c.1351_1378del c.12959_12986del (p.Leu4320ProfsTer12) c.12944_12971del (p.Leu4315ProfsTer12) c.12941_12968del (p.Leu4314ProfsTer12) c.12926_12953del (p.Leu4309ProfsTer12) c.12956_12983del (p.Leu4319ProfsTer12)	gnomAD v4
19	g.38565288G>A	CA10642763	RYR1	c.1364G>A c.1346G>A c.12954G>A (p.Arg4318=) c.12939G>A (p.Arg4313=) c.12936G>A (p.Arg4312=) c.12921G>A (p.Arg4307=) c.12951G>A (p.Arg4317=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565288G>C	CA507355689	RYR1	c.1364G>C c.1346G>C c.12954G>C (p.Arg4318=) c.12939G>C (p.Arg4313=) c.12936G>C (p.Arg4312=) c.12921G>C (p.Arg4307=) c.12951G>C (p.Arg4317=)
19	g.38565288G=	CA2335084787	RYR1	c.1364G= c.1346G= c.12954G= (p.Arg4318=) c.12939G= (p.Arg4313=) c.12936G= (p.Arg4312=) c.12921G= (p.Arg4307=) c.12951G= (p.Arg4317=)
19	g.38565288G>T	CA507355692	RYR1	c.1364G>T c.1346G>T c.12954G>T (p.Arg4318=) c.12939G>T (p.Arg4313=) c.12936G>T (p.Arg4312=) c.12921G>T (p.Arg4307=) c.12951G>T (p.Arg4317=)	dbSNP gnomAD v3 gnomAD v4
19	g.38565288_38565303dup	CA2580097188	RYR1	c.1364_1379dup c.1346_1361dup c.12954_12969dup (p.Thr4324AlafsTer?) c.12939_12954dup (p.Thr4319AlafsTer?) c.12936_12951dup (p.Thr4318AlafsTer?) c.12921_12936dup (p.Thr4313AlafsTer?) c.12951_12966dup (p.Thr4323AlafsTer?)	ClinVar
19	g.38565289C>A	CA507355695	RYR1	c.1365C>A c.1347C>A c.12955C>A (p.Arg4319=) c.12940C>A (p.Arg4314=) c.12937C>A (p.Arg4313=) c.12922C>A (p.Arg4308=) c.12952C>A (p.Arg4318=)	gnomAD v4
19	g.38565289C=	CA2335084788	RYR1	c.1365C= c.1347C= c.12955C= (p.Arg4319=) c.12940C= (p.Arg4314=) c.12937C= (p.Arg4313=) c.12922C= (p.Arg4308=) c.12952C= (p.Arg4318=)
19	g.38565289C>G	CA405672715	RYR1	c.1365C>G c.1347C>G c.12955C>G (p.Arg4319Gly) c.12940C>G (p.Arg4314Gly) c.12937C>G (p.Arg4313Gly) c.12922C>G (p.Arg4308Gly) c.12952C>G (p.Arg4318Gly)
19	g.38565289C>T	CA405672717	RYR1	c.1365C>T c.1347C>T c.12955C>T (p.Arg4319Trp) c.12940C>T (p.Arg4314Trp) c.12937C>T (p.Arg4313Trp) c.12922C>T (p.Arg4308Trp) c.12952C>T (p.Arg4318Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565290G>A	CA024020	RYR1	c.1366G>A c.1348G>A c.12956G>A (p.Arg4319Gln) c.12941G>A (p.Arg4314Gln) c.12938G>A (p.Arg4313Gln) c.12923G>A (p.Arg4308Gln) c.12953G>A (p.Arg4318Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565290G>C	CA405672720	RYR1	c.1366G>C c.1348G>C c.12956G>C (p.Arg4319Pro) c.12941G>C (p.Arg4314Pro) c.12938G>C (p.Arg4313Pro) c.12923G>C (p.Arg4308Pro) c.12953G>C (p.Arg4318Pro)	ClinVar dbSNP
19	g.38565290G=	CA2335084789	RYR1	c.1366G= c.1348G= c.12956G= (p.Arg4319=) c.12941G= (p.Arg4314=) c.12938G= (p.Arg4313=) c.12923G= (p.Arg4308=) c.12953G= (p.Arg4318=)
19	g.38565290G>T	CA405672721	RYR1	c.1366G>T c.1348G>T c.12956G>T (p.Arg4319Leu) c.12941G>T (p.Arg4314Leu) c.12938G>T (p.Arg4313Leu) c.12923G>T (p.Arg4308Leu) c.12953G>T (p.Arg4318Leu)
19	g.38565291G>A	CA507355696	RYR1	c.1367G>A c.1349G>A c.12957G>A (p.Arg4319=) c.12942G>A (p.Arg4314=) c.12939G>A (p.Arg4313=) c.12924G>A (p.Arg4308=) c.12954G>A (p.Arg4318=)	ClinVar dbSNP gnomAD v4
19	g.38565291G>C	CA507355697	RYR1	c.1367G>C c.1349G>C c.12957G>C (p.Arg4319=) c.12942G>C (p.Arg4314=) c.12939G>C (p.Arg4313=) c.12924G>C (p.Arg4308=) c.12954G>C (p.Arg4318=)
19	g.38565291G=	CA2335084790	RYR1	c.1367G= c.1349G= c.12957G= (p.Arg4319=) c.12942G= (p.Arg4314=) c.12939G= (p.Arg4313=) c.12924G= (p.Arg4308=) c.12954G= (p.Arg4318=)
19	g.38565291G>T	CA507355698	RYR1	c.1367G>T c.1349G>T c.12957G>T (p.Arg4319=) c.12942G>T (p.Arg4314=) c.12939G>T (p.Arg4313=) c.12924G>T (p.Arg4308=) c.12954G>T (p.Arg4318=)
19	g.38565292C>A	CA405672724	RYR1	c.1368C>A c.1350C>A c.12958C>A (p.Leu4320Met) c.12943C>A (p.Leu4315Met) c.12940C>A (p.Leu4314Met) c.12925C>A (p.Leu4309Met) c.12955C>A (p.Leu4319Met)
19	g.38565292C=	CA2335084791	RYR1	c.1368C= c.1350C= c.12958C= (p.Leu4320=) c.12943C= (p.Leu4315=) c.12940C= (p.Leu4314=) c.12925C= (p.Leu4309=) c.12955C= (p.Leu4319=)
19	g.38565292C>G	CA405672726	RYR1	c.1368C>G c.1350C>G c.12958C>G (p.Leu4320Val) c.12943C>G (p.Leu4315Val) c.12940C>G (p.Leu4314Val) c.12925C>G (p.Leu4309Val) c.12955C>G (p.Leu4319Val)	dbSNP gnomAD v4
19	g.38565292C>T	CA507355699	RYR1	c.1368C>T c.1350C>T c.12958C>T (p.Leu4320=) c.12943C>T (p.Leu4315=) c.12940C>T (p.Leu4314=) c.12925C>T (p.Leu4309=) c.12955C>T (p.Leu4319=)	gnomAD v4
19	g.38565292_38565293insGCG	CA2584909137	RYR1	c.1368_1369insGCG c.1350_1351insGCG c.12958_12959insGCG (p.Leu4320delinsArgVal) c.12943_12944insGCG (p.Leu4315delinsArgVal) c.12940_12941insGCG (p.Leu4314delinsArgVal) c.12925_12926insGCG (p.Leu4309delinsArgVal) c.12955_12956insGCG (p.Leu4319delinsArgVal)	gnomAD v4
19	g.38565293T>A	CA405672731	RYR1	c.1369T>A c.1351T>A c.12959T>A (p.Leu4320Gln) c.12944T>A (p.Leu4315Gln) c.12941T>A (p.Leu4314Gln) c.12926T>A (p.Leu4309Gln) c.12956T>A (p.Leu4319Gln)	gnomAD v4
19	g.38565293T>C	CA405672729	RYR1	c.1369T>C c.1351T>C c.12959T>C (p.Leu4320Pro) c.12944T>C (p.Leu4315Pro) c.12941T>C (p.Leu4314Pro) c.12926T>C (p.Leu4309Pro) c.12956T>C (p.Leu4319Pro)	dbSNP gnomAD v4
19	g.38565293T>G	CA405672734	RYR1	c.1369T>G c.1351T>G c.12959T>G (p.Leu4320Arg) c.12944T>G (p.Leu4315Arg) c.12941T>G (p.Leu4314Arg) c.12926T>G (p.Leu4309Arg) c.12956T>G (p.Leu4319Arg)	dbSNP gnomAD v3 gnomAD v4
19	g.38565293T=	CA2335084792	RYR1	c.1369T= c.1351T= c.12959T= (p.Leu4320=) c.12944T= (p.Leu4315=) c.12941T= (p.Leu4314=) c.12926T= (p.Leu4309=) c.12956T= (p.Leu4319=)
19	g.38565294G>A	CA507355701	RYR1	c.1370G>A c.1352G>A c.12960G>A (p.Leu4320=) c.12945G>A (p.Leu4315=) c.12942G>A (p.Leu4314=) c.12927G>A (p.Leu4309=) c.12957G>A (p.Leu4319=)	gnomAD v4
19	g.38565294G>C	CA507355702	RYR1	c.1370G>C c.1352G>C c.12960G>C (p.Leu4320=) c.12945G>C (p.Leu4315=) c.12942G>C (p.Leu4314=) c.12927G>C (p.Leu4309=) c.12957G>C (p.Leu4319=)
19	g.38565294G>T	CA507355703	RYR1	c.1370G>T c.1352G>T c.12960G>T (p.Leu4320=) c.12945G>T (p.Leu4315=) c.12942G>T (p.Leu4314=) c.12927G>T (p.Leu4309=) c.12957G>T (p.Leu4319=)	gnomAD v4
19	g.38565295C>A	CA507355704	RYR1	c.1371C>A c.1353C>A c.12961C>A (p.Arg4321=) c.12946C>A (p.Arg4316=) c.12943C>A (p.Arg4315=) c.12928C>A (p.Arg4310=) c.12958C>A (p.Arg4320=)	gnomAD v4
19	g.38565295C=	CA2335084793	RYR1	c.1371C= c.1353C= c.12961C= (p.Arg4321=) c.12946C= (p.Arg4316=) c.12943C= (p.Arg4315=) c.12928C= (p.Arg4310=) c.12958C= (p.Arg4320=)
19	g.38565295C>G	CA405672736	RYR1	c.1371C>G c.1353C>G c.12961C>G (p.Arg4321Gly) c.12946C>G (p.Arg4316Gly) c.12943C>G (p.Arg4315Gly) c.12928C>G (p.Arg4310Gly) c.12958C>G (p.Arg4320Gly)
19	g.38565295C>T	CA405672739	RYR1	c.1371C>T c.1353C>T c.12961C>T (p.Arg4321Trp) c.12946C>T (p.Arg4316Trp) c.12943C>T (p.Arg4315Trp) c.12928C>T (p.Arg4310Trp) c.12958C>T (p.Arg4320Trp)	ClinVar gnomAD v4
19	g.38565295_38565296insAGT	CA995731603	RYR1	c.1371_1372insAGT c.1353_1354insAGT c.12961_12962insAGT (p.Arg4321delinsGlnTrp) c.12946_12947insAGT (p.Arg4316delinsGlnTrp) c.12943_12944insAGT (p.Arg4315delinsGlnTrp) c.12928_12929insAGT (p.Arg4310delinsGlnTrp) c.12958_12959insAGT (p.Arg4320delinsGlnTrp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565296G>A	CA405672741	RYR1	c.1372G>A c.1354G>A c.12962G>A (p.Arg4321Gln) c.12947G>A (p.Arg4316Gln) c.12944G>A (p.Arg4315Gln) c.12929G>A (p.Arg4310Gln) c.12959G>A (p.Arg4320Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565296G>C	CA405672743	RYR1	c.1372G>C c.1354G>C c.12962G>C (p.Arg4321Pro) c.12947G>C (p.Arg4316Pro) c.12944G>C (p.Arg4315Pro) c.12929G>C (p.Arg4310Pro) c.12959G>C (p.Arg4320Pro)
19	g.38565296G=	CA2335084794	RYR1	c.1372G= c.1354G= c.12962G= (p.Arg4321=) c.12947G= (p.Arg4316=) c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12959G= (p.Arg4320=)
19	g.38565296G>T	CA405672745	RYR1	c.1372G>T c.1354G>T c.12962G>T (p.Arg4321Leu) c.12947G>T (p.Arg4316Leu) c.12944G>T (p.Arg4315Leu) c.12929G>T (p.Arg4310Leu) c.12959G>T (p.Arg4320Leu)	dbSNP
19	g.38565297G>A	CA507355707	RYR1	c.1373G>A c.1355G>A c.12963G>A (p.Arg4321=) c.12948G>A (p.Arg4316=) c.12945G>A (p.Arg4315=) c.12930G>A (p.Arg4310=) c.12960G>A (p.Arg4320=)	gnomAD v4
19	g.38565297G>C	CA507355708	RYR1	c.1373G>C c.1355G>C c.12963G>C (p.Arg4321=) c.12948G>C (p.Arg4316=) c.12945G>C (p.Arg4315=) c.12930G>C (p.Arg4310=) c.12960G>C (p.Arg4320=)
19	g.38565297G>T	CA507355710	RYR1	c.1373G>T c.1355G>T c.12963G>T (p.Arg4321=) c.12948G>T (p.Arg4316=) c.12945G>T (p.Arg4315=) c.12930G>T (p.Arg4310=) c.12960G>T (p.Arg4320=)
19	g.38565298C>A	CA507355711	RYR1	c.1374C>A c.1356C>A c.12964C>A (p.Arg4322=) c.12949C>A (p.Arg4317=) c.12946C>A (p.Arg4316=) c.12931C>A (p.Arg4311=) c.12961C>A (p.Arg4321=)	gnomAD v4
19	g.38565298C=	CA2335084795	RYR1	c.1374C= c.1356C= c.12964C= (p.Arg4322=) c.12949C= (p.Arg4317=) c.12946C= (p.Arg4316=) c.12931C= (p.Arg4311=) c.12961C= (p.Arg4321=)
19	g.38565298C>G	CA405672748	RYR1	c.1374C>G c.1356C>G c.12964C>G (p.Arg4322Gly) c.12949C>G (p.Arg4317Gly) c.12946C>G (p.Arg4316Gly) c.12931C>G (p.Arg4311Gly) c.12961C>G (p.Arg4321Gly)
19	g.38565298C>T	CA405672750	RYR1	c.1374C>T c.1356C>T c.12964C>T (p.Arg4322Trp) c.12949C>T (p.Arg4317Trp) c.12946C>T (p.Arg4316Trp) c.12931C>T (p.Arg4311Trp) c.12961C>T (p.Arg4321Trp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565299G>A	CA405672753	RYR1	c.1375G>A c.1357G>A c.12965G>A (p.Arg4322Gln) c.12950G>A (p.Arg4317Gln) c.12947G>A (p.Arg4316Gln) c.12932G>A (p.Arg4311Gln) c.12962G>A (p.Arg4321Gln)
19	g.38565299G>C	CA405672754	RYR1	c.1375G>C c.1357G>C c.12965G>C (p.Arg4322Pro) c.12950G>C (p.Arg4317Pro) c.12947G>C (p.Arg4316Pro) c.12932G>C (p.Arg4311Pro) c.12962G>C (p.Arg4321Pro)
19	g.38565299G>T	CA405672756	RYR1	c.1375G>T c.1357G>T c.12965G>T (p.Arg4322Leu) c.12950G>T (p.Arg4317Leu) c.12947G>T (p.Arg4316Leu) c.12932G>T (p.Arg4311Leu) c.12962G>T (p.Arg4321Leu)	gnomAD v4
19	g.38565300G>A	CA308109416	RYR1	c.1376G>A c.1358G>A c.12966G>A (p.Arg4322=) c.12951G>A (p.Arg4317=) c.12948G>A (p.Arg4316=) c.12933G>A (p.Arg4311=) c.12963G>A (p.Arg4321=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565300G>C	CA507355715	RYR1	c.1376G>C c.1358G>C c.12966G>C (p.Arg4322=) c.12951G>C (p.Arg4317=) c.12948G>C (p.Arg4316=) c.12933G>C (p.Arg4311=) c.12963G>C (p.Arg4321=)
19	g.38565300G=	CA2335084796	RYR1	c.1376G= c.1358G= c.12966G= (p.Arg4322=) c.12951G= (p.Arg4317=) c.12948G= (p.Arg4316=) c.12933G= (p.Arg4311=) c.12963G= (p.Arg4321=)
19	g.38565300G>T	CA507355716	RYR1	c.1376G>T c.1358G>T c.12966G>T (p.Arg4322=) c.12951G>T (p.Arg4317=) c.12948G>T (p.Arg4316=) c.12933G>T (p.Arg4311=) c.12963G>T (p.Arg4321=)
19	g.38565300_38565302delinsGCT	CA2335084797	RYR1	c.1376_1378delinsGCT c.1358_1360delinsGCT c.12966_12968delinsGCT (p.Arg4322=) c.12951_12953delinsGCT (p.Arg4317=) c.12948_12950delinsGCT (p.Arg4316=) c.12933_12935delinsGCT (p.Arg4311=) c.12963_12965delinsGCT (p.Arg4321=)
19	g.38565301C>A	CA405672763	RYR1	c.1377C>A c.1359C>A c.12967C>A (p.Leu4323Ile) c.12952C>A (p.Leu4318Ile) c.12949C>A (p.Leu4317Ile) c.12934C>A (p.Leu4312Ile) c.12964C>A (p.Leu4322Ile)
19	g.38565301C>G	CA405672761	RYR1	c.1377C>G c.1359C>G c.12967C>G (p.Leu4323Val) c.12952C>G (p.Leu4318Val) c.12949C>G (p.Leu4317Val) c.12934C>G (p.Leu4312Val) c.12964C>G (p.Leu4322Val)	dbSNP gnomAD v4
19	g.38565301C>T	CA405672760	RYR1	c.1377C>T c.1359C>T c.12967C>T (p.Leu4323Phe) c.12952C>T (p.Leu4318Phe) c.12949C>T (p.Leu4317Phe) c.12934C>T (p.Leu4312Phe) c.12964C>T (p.Leu4322Phe)	gnomAD v4
19	g.38565301_38565302del	CA995731612	RYR1	c.1377_1378del c.1359_1360del c.12967_12968del (p.Leu4323TyrfsTer?) c.12952_12953del (p.Leu4318TyrfsTer?) c.12949_12950del (p.Leu4317TyrfsTer?) c.12934_12935del (p.Leu4312TyrfsTer?) c.12964_12965del (p.Leu4322TyrfsTer?)	dbSNP gnomAD v3 gnomAD v4
19	g.38565302T>A	CA405672765	RYR1	c.1378T>A c.1360T>A c.12968T>A (p.Leu4323His) c.12953T>A (p.Leu4318His) c.12950T>A (p.Leu4317His) c.12935T>A (p.Leu4312His) c.12965T>A (p.Leu4322His)
19	g.38565302T>C	CA405672768	RYR1	c.1378T>C c.1360T>C c.12968T>C (p.Leu4323Pro) c.12953T>C (p.Leu4318Pro) c.12950T>C (p.Leu4317Pro) c.12935T>C (p.Leu4312Pro) c.12965T>C (p.Leu4322Pro)	gnomAD v4
19	g.38565302T>G	CA405672770	RYR1	c.1378T>G c.1360T>G c.12968T>G (p.Leu4323Arg) c.12953T>G (p.Leu4318Arg) c.12950T>G (p.Leu4317Arg) c.12935T>G (p.Leu4312Arg) c.12965T>G (p.Leu4322Arg)
19	g.38565303T>A	CA507355722	RYR1	c.1379T>A c.1361T>A c.12969T>A (p.Leu4323=) c.12954T>A (p.Leu4318=) c.12951T>A (p.Leu4317=) c.12936T>A (p.Leu4312=) c.12966T>A (p.Leu4322=)
19	g.38565303T>C	CA507355720	RYR1	c.1379T>C c.1361T>C c.12969T>C (p.Leu4323=) c.12954T>C (p.Leu4318=) c.12951T>C (p.Leu4317=) c.12936T>C (p.Leu4312=) c.12966T>C (p.Leu4322=)	ClinVar dbSNP gnomAD v4
19	g.38565303T>G	CA507355721	RYR1	c.1379T>G c.1361T>G c.12969T>G (p.Leu4323=) c.12954T>G (p.Leu4318=) c.12951T>G (p.Leu4317=) c.12936T>G (p.Leu4312=) c.12966T>G (p.Leu4322=)
19	g.38565304A=	CA2335084798	RYR1	c.1380A= c.1362A= c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12952A= (p.Thr4318=) c.12937A= (p.Thr4313=) c.12967A= (p.Thr4323=)
19	g.38565304A>C	CA405672772	RYR1	c.1380A>C c.1362A>C c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12952A>C (p.Thr4318Pro) c.12937A>C (p.Thr4313Pro) c.12967A>C (p.Thr4323Pro)
19	g.38565304A>G	CA405672775	RYR1	c.1380A>G c.1362A>G c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12952A>G (p.Thr4318Ala) c.12937A>G (p.Thr4313Ala) c.12967A>G (p.Thr4323Ala)	dbSNP gnomAD v3 gnomAD v4
19	g.38565304A>T	CA405672778	RYR1	c.1380A>T c.1362A>T c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12952A>T (p.Thr4318Ser) c.12937A>T (p.Thr4313Ser) c.12967A>T (p.Thr4323Ser)
19	g.38565305C>A	CA405672780	RYR1	c.1381C>A c.1363C>A c.12971C>A (p.Thr4324Lys) c.12956C>A (p.Thr4319Lys) c.12953C>A (p.Thr4318Lys) c.12938C>A (p.Thr4313Lys) c.12968C>A (p.Thr4323Lys)
19	g.38565305C=	CA2335084799	RYR1	c.1381C= c.1363C= c.12971C= (p.Thr4324=) c.12956C= (p.Thr4319=) c.12953C= (p.Thr4318=) c.12938C= (p.Thr4313=) c.12968C= (p.Thr4323=)
19	g.38565305C>G	CA405672781	RYR1	c.1381C>G c.1363C>G c.12971C>G (p.Thr4324Arg) c.12956C>G (p.Thr4319Arg) c.12953C>G (p.Thr4318Arg) c.12938C>G (p.Thr4313Arg) c.12968C>G (p.Thr4323Arg)	ClinVar gnomAD v4
19	g.38565305C>T	CA405672783	RYR1	c.1381C>T c.1363C>T c.12971C>T (p.Thr4324Met) c.12956C>T (p.Thr4319Met) c.12953C>T (p.Thr4318Met) c.12938C>T (p.Thr4313Met) c.12968C>T (p.Thr4323Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38565310_38565321del	CA2584909138	RYR1	c.1386_1397del c.1368_1379del c.12976_12987del (p.Arg4326_Ala4329del) c.12961_12972del (p.Arg4321_Ala4324del) c.12958_12969del (p.Arg4320_Ala4323del) c.12943_12954del (p.Arg4315_Ala4318del) c.12973_12984del (p.Arg4325_Ala4328del)	gnomAD v4
19	g.38565305_38565306insAGT	CA995731621	RYR1	c.1381_1382insAGT c.1363_1364insAGT c.12971_12972insAGT (p.Thr4324_Ala4325insVal) c.12956_12957insAGT (p.Thr4319_Ala4320insVal) c.12953_12954insAGT (p.Thr4318_Ala4319insVal) c.12938_12939insAGT (p.Thr4313_Ala4314insVal) c.12968_12969insAGT (p.Thr4323_Ala4324insVal)	dbSNP gnomAD v3 gnomAD v4
19	g.38565306G>A	CA507355728	RYR1	c.1382G>A c.1364G>A c.12972G>A (p.Thr4324=) c.12957G>A (p.Thr4319=) c.12954G>A (p.Thr4318=) c.12939G>A (p.Thr4313=) c.12969G>A (p.Thr4323=)	dbSNP gnomAD v4
19	g.38565306G>C	CA507355727	RYR1	c.1382G>C c.1364G>C c.12972G>C (p.Thr4324=) c.12957G>C (p.Thr4319=) c.12954G>C (p.Thr4318=) c.12939G>C (p.Thr4313=) c.12969G>C (p.Thr4323=)	ClinVar gnomAD v4
19	g.38565306G>T	CA507355726	RYR1	c.1382G>T c.1364G>T c.12972G>T (p.Thr4324=) c.12957G>T (p.Thr4319=) c.12954G>T (p.Thr4318=) c.12939G>T (p.Thr4313=) c.12969G>T (p.Thr4323=)	gnomAD v4
19	g.38565307G>A	CA405672787	RYR1	c.1383G>A c.1365G>A c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12955G>A (p.Ala4319Thr) c.12940G>A (p.Ala4314Thr) c.12970G>A (p.Ala4324Thr)	gnomAD v4
19	g.38565307G>C	CA405672789	RYR1	c.1383G>C c.1365G>C c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12955G>C (p.Ala4319Pro) c.12940G>C (p.Ala4314Pro) c.12970G>C (p.Ala4324Pro)
19	g.38565307G>T	CA405672791	RYR1	c.1383G>T c.1365G>T c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12955G>T (p.Ala4319Ser) c.12940G>T (p.Ala4314Ser) c.12970G>T (p.Ala4324Ser)	gnomAD v4
19	g.38565308C>A	CA405672797	RYR1	c.1384C>A c.1366C>A c.12974C>A (p.Ala4325Asp) c.12959C>A (p.Ala4320Asp) c.12956C>A (p.Ala4319Asp) c.12941C>A (p.Ala4314Asp) c.12971C>A (p.Ala4324Asp)	gnomAD v4
19	g.38565308C=	CA2335084800	RYR1	c.1384C= c.1366C= c.12974C= (p.Ala4325=) c.12959C= (p.Ala4320=) c.12956C= (p.Ala4319=) c.12941C= (p.Ala4314=) c.12971C= (p.Ala4324=)
19	g.38565308C>G	CA405672796	RYR1	c.1384C>G c.1366C>G c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12956C>G (p.Ala4319Gly) c.12941C>G (p.Ala4314Gly) c.12971C>G (p.Ala4324Gly)
19	g.38565308C>T	CA405672793	RYR1	c.1384C>T c.1366C>T c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12956C>T (p.Ala4319Val) c.12941C>T (p.Ala4314Val) c.12971C>T (p.Ala4324Val)	dbSNP gnomAD v4
19	g.38565308_38565314delinsCCCGCGA	CA2335084801	RYR1	c.1384_1390delinsCCCGCGA c.1366_1372delinsCCCGCGA c.12974_12980delinsCCCGCGA (p.Ala4325=) c.12959_12965delinsCCCGCGA (p.Ala4320=) c.12956_12962delinsCCCGCGA (p.Ala4319=) c.12941_12947delinsCCCGCGA (p.Ala4314=) c.12971_12977delinsCCCGCGA (p.Ala4324=)
19	g.38565309C>A	CA507355729	RYR1	c.1385C>A c.1367C>A c.12975C>A (p.Ala4325=) c.12960C>A (p.Ala4320=) c.12957C>A (p.Ala4319=) c.12942C>A (p.Ala4314=) c.12972C>A (p.Ala4324=)	gnomAD v4
19	g.38565309C=	CA2335084802	RYR1	c.1385C= c.1367C= c.12975C= (p.Ala4325=) c.12960C= (p.Ala4320=) c.12957C= (p.Ala4319=) c.12942C= (p.Ala4314=) c.12972C= (p.Ala4324=)
19	g.38565309C>G	CA507355731	RYR1	c.1385C>G c.1367C>G c.12975C>G (p.Ala4325=) c.12960C>G (p.Ala4320=) c.12957C>G (p.Ala4319=) c.12942C>G (p.Ala4314=) c.12972C>G (p.Ala4324=)
19	g.38565309C>T	CA507355730	RYR1	c.1385C>T c.1367C>T c.12975C>T (p.Ala4325=) c.12960C>T (p.Ala4320=) c.12957C>T (p.Ala4319=) c.12942C>T (p.Ala4314=) c.12972C>T (p.Ala4324=)	dbSNP gnomAD v4
19	g.38565309_38565314del	CA995731623	RYR1	c.1385_1390del c.1367_1372del c.12975_12980del (p.Arg4326_Glu4327del) c.12960_12965del (p.Arg4321_Glu4322del) c.12957_12962del (p.Arg4320_Glu4321del) c.12942_12947del (p.Arg4315_Glu4316del) c.12972_12977del (p.Arg4325_Glu4326del)	dbSNP gnomAD v3 gnomAD v4
19	g.38565310C>A	CA405672800	RYR1	c.1386C>A c.1368C>A c.12976C>A (p.Arg4326Ser) c.12961C>A (p.Arg4321Ser) c.12958C>A (p.Arg4320Ser) c.12943C>A (p.Arg4315Ser) c.12973C>A (p.Arg4325Ser)	gnomAD v4
19	g.38565310C>G	CA405672802	RYR1	c.1386C>G c.1368C>G c.12976C>G (p.Arg4326Gly) c.12961C>G (p.Arg4321Gly) c.12958C>G (p.Arg4320Gly) c.12943C>G (p.Arg4315Gly) c.12973C>G (p.Arg4325Gly)
19	g.38565310C>T	CA405672805	RYR1	c.1386C>T c.1368C>T c.12976C>T (p.Arg4326Cys) c.12961C>T (p.Arg4321Cys) c.12958C>T (p.Arg4320Cys) c.12943C>T (p.Arg4315Cys) c.12973C>T (p.Arg4325Cys)	ClinVar dbSNP gnomAD v4
19	g.38565312_38565313del	CA913189013	RYR1	c.1388_1389del c.1370_1371del c.12978_12979del (p.Glu4327GlyfsTer?) c.12963_12964del (p.Glu4322GlyfsTer?) c.12960_12961del (p.Glu4321GlyfsTer?) c.12945_12946del (p.Glu4316GlyfsTer?) c.12975_12976del (p.Glu4326GlyfsTer?)
19	g.38565311G>A	CA405672807	RYR1	c.1387G>A c.1369G>A c.12977G>A (p.Arg4326His) c.12962G>A (p.Arg4321His) c.12959G>A (p.Arg4320His) c.12944G>A (p.Arg4315His) c.12974G>A (p.Arg4325His)	gnomAD v4
19	g.38565311G>C	CA405672808	RYR1	c.1387G>C c.1369G>C c.12977G>C (p.Arg4326Pro) c.12962G>C (p.Arg4321Pro) c.12959G>C (p.Arg4320Pro) c.12944G>C (p.Arg4315Pro) c.12974G>C (p.Arg4325Pro)
19	g.38565311G>T	CA405672810	RYR1	c.1387G>T c.1369G>T c.12977G>T (p.Arg4326Leu) c.12962G>T (p.Arg4321Leu) c.12959G>T (p.Arg4320Leu) c.12944G>T (p.Arg4315Leu) c.12974G>T (p.Arg4325Leu)	ClinVar dbSNP gnomAD v4
19	g.38565311_38565312delinsGC	CA2335084803	RYR1	c.1387_1388delinsGC c.1369_1370delinsGC c.12977_12978delinsGC (p.Arg4326=) c.12962_12963delinsGC (p.Arg4321=) c.12959_12960delinsGC (p.Arg4320=) c.12944_12945delinsGC (p.Arg4315=) c.12974_12975delinsGC (p.Arg4325=)
19	g.38565312del	CA891863128	RYR1	c.1388del c.1370del c.12978del (p.Glu4327ArgfsTer14) c.12963del (p.Glu4322ArgfsTer14) c.12960del (p.Glu4321ArgfsTer14) c.12945del (p.Glu4316ArgfsTer14) c.12975del (p.Glu4326ArgfsTer14)	ClinVar dbSNP
19	g.38565312C>A	CA507355732	RYR1	c.1388C>A c.1370C>A c.12978C>A (p.Arg4326=) c.12963C>A (p.Arg4321=) c.12960C>A (p.Arg4320=) c.12945C>A (p.Arg4315=) c.12975C>A (p.Arg4325=)
19	g.38565312C=	CA2335084804	RYR1	c.1388C= c.1370C= c.12978C= (p.Arg4326=) c.12963C= (p.Arg4321=) c.12960C= (p.Arg4320=) c.12945C= (p.Arg4315=) c.12975C= (p.Arg4325=)
19	g.38565312C>G	CA507355733	RYR1	c.1388C>G c.1370C>G c.12978C>G (p.Arg4326=) c.12963C>G (p.Arg4321=) c.12960C>G (p.Arg4320=) c.12945C>G (p.Arg4315=) c.12975C>G (p.Arg4325=)
19	g.38565312C>T	CA308109420	RYR1	c.1388C>T c.1370C>T c.12978C>T (p.Arg4326=) c.12963C>T (p.Arg4321=) c.12960C>T (p.Arg4320=) c.12945C>T (p.Arg4315=) c.12975C>T (p.Arg4325=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565313G>A	CA405672817	RYR1	c.1389G>A c.1371G>A c.12979G>A (p.Glu4327Lys) c.12964G>A (p.Glu4322Lys) c.12961G>A (p.Glu4321Lys) c.12946G>A (p.Glu4316Lys) c.12976G>A (p.Glu4326Lys)	dbSNP gnomAD v4
19	g.38565313G>C	CA405672812	RYR1	c.1389G>C c.1371G>C c.12979G>C (p.Glu4327Gln) c.12964G>C (p.Glu4322Gln) c.12961G>C (p.Glu4321Gln) c.12946G>C (p.Glu4316Gln) c.12976G>C (p.Glu4326Gln)
19	g.38565313G=	CA2335084805	RYR1	c.1389G= c.1371G= c.12979G= (p.Glu4327=) c.12964G= (p.Glu4322=) c.12961G= (p.Glu4321=) c.12946G= (p.Glu4316=) c.12976G= (p.Glu4326=)
19	g.38565313G>T	CA405672815	RYR1	c.1389G>T c.1371G>T c.12979G>T (p.Glu4327Ter) c.12964G>T (p.Glu4322Ter) c.12961G>T (p.Glu4321Ter) c.12946G>T (p.Glu4316Ter) c.12976G>T (p.Glu4326Ter)	gnomAD v3 gnomAD v4
19	g.38565314A>C	CA405672819	RYR1	c.1390A>C c.1372A>C c.12980A>C (p.Glu4327Ala) c.12965A>C (p.Glu4322Ala) c.12962A>C (p.Glu4321Ala) c.12947A>C (p.Glu4316Ala) c.12977A>C (p.Glu4326Ala)
19	g.38565314A>G	CA405672821	RYR1	c.1390A>G c.1372A>G c.12980A>G (p.Glu4327Gly) c.12965A>G (p.Glu4322Gly) c.12962A>G (p.Glu4321Gly) c.12947A>G (p.Glu4316Gly) c.12977A>G (p.Glu4326Gly)	gnomAD v4
19	g.38565314A>T	CA405672823	RYR1	c.1390A>T c.1372A>T c.12980A>T (p.Glu4327Val) c.12965A>T (p.Glu4322Val) c.12962A>T (p.Glu4321Val) c.12947A>T (p.Glu4316Val) c.12977A>T (p.Glu4326Val)
19	g.38565315G>A	CA507355735	RYR1	c.1391G>A c.1373G>A c.12981G>A (p.Glu4327=) c.12966G>A (p.Glu4322=) c.12963G>A (p.Glu4321=) c.12948G>A (p.Glu4316=) c.12978G>A (p.Glu4326=)
19	g.38565315G>C	CA405672825	RYR1	c.1391G>C c.1373G>C c.12981G>C (p.Glu4327Asp) c.12966G>C (p.Glu4322Asp) c.12963G>C (p.Glu4321Asp) c.12948G>C (p.Glu4316Asp) c.12978G>C (p.Glu4326Asp)	ClinVar dbSNP gnomAD v4
19	g.38565315G=	CA2335084806	RYR1	c.1391G= c.1373G= c.12981G= (p.Glu4327=) c.12966G= (p.Glu4322=) c.12963G= (p.Glu4321=) c.12948G= (p.Glu4316=) c.12978G= (p.Glu4326=)
19	g.38565315G>T	CA405672828	RYR1	c.1391G>T c.1373G>T c.12981G>T (p.Glu4327Asp) c.12966G>T (p.Glu4322Asp) c.12963G>T (p.Glu4321Asp) c.12948G>T (p.Glu4316Asp) c.12978G>T (p.Glu4326Asp)	gnomAD v4
19	g.38565316G>A	CA405672834	RYR1	c.1392G>A c.1374G>A c.12982G>A (p.Ala4328Thr) c.12967G>A (p.Ala4323Thr) c.12964G>A (p.Ala4322Thr) c.12949G>A (p.Ala4317Thr) c.12979G>A (p.Ala4327Thr)
19	g.38565316G>C	CA405672830	RYR1	c.1392G>C c.1374G>C c.12982G>C (p.Ala4328Pro) c.12967G>C (p.Ala4323Pro) c.12964G>C (p.Ala4322Pro) c.12949G>C (p.Ala4317Pro) c.12979G>C (p.Ala4327Pro)
19	g.38565316G>T	CA405672833	RYR1	c.1392G>T c.1374G>T c.12982G>T (p.Ala4328Ser) c.12967G>T (p.Ala4323Ser) c.12964G>T (p.Ala4322Ser) c.12949G>T (p.Ala4317Ser) c.12979G>T (p.Ala4327Ser)
19	g.38565317C>A	CA405672837	RYR1	c.1393C>A c.1375C>A c.12983C>A (p.Ala4328Glu) c.12968C>A (p.Ala4323Glu) c.12965C>A (p.Ala4322Glu) c.12950C>A (p.Ala4317Glu) c.12980C>A (p.Ala4327Glu)
19	g.38565317C=	CA2335084807	RYR1	c.1393C= c.1375C= c.12983C= (p.Ala4328=) c.12968C= (p.Ala4323=) c.12965C= (p.Ala4322=) c.12950C= (p.Ala4317=) c.12980C= (p.Ala4327=)
19	g.38565317C>G	CA405672840	RYR1	c.1393C>G c.1375C>G c.12983C>G (p.Ala4328Gly) c.12968C>G (p.Ala4323Gly) c.12965C>G (p.Ala4322Gly) c.12950C>G (p.Ala4317Gly) c.12980C>G (p.Ala4327Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565317C>T	CA405672841	RYR1	c.1393C>T c.1375C>T c.12983C>T (p.Ala4328Val) c.12968C>T (p.Ala4323Val) c.12965C>T (p.Ala4322Val) c.12950C>T (p.Ala4317Val) c.12980C>T (p.Ala4327Val)	gnomAD v4
19	g.38565318G>A	CA16607801	RYR1	c.1394G>A c.1376G>A c.12984G>A (p.Ala4328=) c.12969G>A (p.Ala4323=) c.12966G>A (p.Ala4322=) c.12951G>A (p.Ala4317=) c.12981G>A (p.Ala4327=)	ClinVar dbSNP
19	g.38565318G>C	CA507355739	RYR1	c.1394G>C c.1376G>C c.12984G>C (p.Ala4328=) c.12969G>C (p.Ala4323=) c.12966G>C (p.Ala4322=) c.12951G>C (p.Ala4317=) c.12981G>C (p.Ala4327=)
19	g.38565318G=	CA2335084808	RYR1	c.1394G= c.1376G= c.12984G= (p.Ala4328=) c.12969G= (p.Ala4323=) c.12966G= (p.Ala4322=) c.12951G= (p.Ala4317=) c.12981G= (p.Ala4327=)
19	g.38565318G>T	CA507355740	RYR1	c.1394G>T c.1376G>T c.12984G>T (p.Ala4328=) c.12969G>T (p.Ala4323=) c.12966G>T (p.Ala4322=) c.12951G>T (p.Ala4317=) c.12981G>T (p.Ala4327=)
19	g.38565319G>A	CA405672845	RYR1	c.1395G>A c.1377G>A c.12985G>A (p.Ala4329Thr) c.12970G>A (p.Ala4324Thr) c.12967G>A (p.Ala4323Thr) c.12952G>A (p.Ala4318Thr) c.12982G>A (p.Ala4328Thr)	gnomAD v4
19	g.38565319G>C	CA405672846	RYR1	c.1395G>C c.1377G>C c.12985G>C (p.Ala4329Pro) c.12970G>C (p.Ala4324Pro) c.12967G>C (p.Ala4323Pro) c.12952G>C (p.Ala4318Pro) c.12982G>C (p.Ala4328Pro)
19	g.38565319G>T	CA405672849	RYR1	c.1395G>T c.1377G>T c.12985G>T (p.Ala4329Ser) c.12970G>T (p.Ala4324Ser) c.12967G>T (p.Ala4323Ser) c.12952G>T (p.Ala4318Ser) c.12982G>T (p.Ala4328Ser)	gnomAD v4
19	g.38565320C>A	CA024025	RYR1	c.1396C>A c.1378C>A c.12986C>A (p.Ala4329Asp) c.12971C>A (p.Ala4324Asp) c.12968C>A (p.Ala4323Asp) c.12953C>A (p.Ala4318Asp) c.12983C>A (p.Ala4328Asp)	ClinVar dbSNP gnomAD v4
19	g.38565320C=	CA2335084810	RYR1	c.1396C= c.1378C= c.12986C= (p.Ala4329=) c.12971C= (p.Ala4324=) c.12968C= (p.Ala4323=) c.12953C= (p.Ala4318=) c.12983C= (p.Ala4328=)
19	g.38565320C>G	CA405672852	RYR1	c.1396C>G c.1378C>G c.12986C>G (p.Ala4329Gly) c.12971C>G (p.Ala4324Gly) c.12968C>G (p.Ala4323Gly) c.12953C>G (p.Ala4318Gly) c.12983C>G (p.Ala4328Gly)
19	g.38565320C>T	CA405672854	RYR1	c.1396C>T c.1378C>T c.12986C>T (p.Ala4329Val) c.12971C>T (p.Ala4324Val) c.12968C>T (p.Ala4323Val) c.12953C>T (p.Ala4318Val) c.12983C>T (p.Ala4328Val)	gnomAD v4
19	g.38565320_38565322delinsCCA	CA2335084809	RYR1	c.1396_1398delinsCCA c.1378_1380delinsCCA c.12986_12988delinsCCA (p.Ala4329=) c.12971_12973delinsCCA (p.Ala4324=) c.12968_12970delinsCCA (p.Ala4323=) c.12953_12955delinsCCA (p.Ala4318=) c.12983_12985delinsCCA (p.Ala4328=)
19	g.38565321C>A	CA507355744	RYR1	c.1397C>A c.1379C>A c.12987C>A (p.Ala4329=) c.12972C>A (p.Ala4324=) c.12969C>A (p.Ala4323=) c.12954C>A (p.Ala4318=) c.12984C>A (p.Ala4328=)
19	g.38565321C=	CA2335084811	RYR1	c.1397C= c.1379C= c.12987C= (p.Ala4329=) c.12972C= (p.Ala4324=) c.12969C= (p.Ala4323=) c.12954C= (p.Ala4318=) c.12984C= (p.Ala4328=)
19	g.38565321C>G	CA507355745	RYR1	c.1397C>G c.1379C>G c.12987C>G (p.Ala4329=) c.12972C>G (p.Ala4324=) c.12969C>G (p.Ala4323=) c.12954C>G (p.Ala4318=) c.12984C>G (p.Ala4328=)
19	g.38565321C>T	CA507355746	RYR1	c.1397C>T c.1379C>T c.12987C>T (p.Ala4329=) c.12972C>T (p.Ala4324=) c.12969C>T (p.Ala4323=) c.12954C>T (p.Ala4318=) c.12984C>T (p.Ala4328=)	dbSNP
19	g.38565322_38565323del	CA995731632	RYR1	c.1398_1399del c.1380_1381del c.12988_12989del (p.Thr4330ArgfsTer?) c.12973_12974del (p.Thr4325ArgfsTer?) c.12970_12971del (p.Thr4324ArgfsTer?) c.12955_12956del (p.Thr4319ArgfsTer?) c.12985_12986del (p.Thr4329ArgfsTer?)	dbSNP gnomAD v3 gnomAD v4
19	g.38565322A=	CA2335084812	RYR1	c.1398A= c.1380A= c.12988A= (p.Thr4330=) c.12973A= (p.Thr4325=) c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12985A= (p.Thr4329=)
19	g.38565322A>C	CA405672859	RYR1	c.1398A>C c.1380A>C c.12988A>C (p.Thr4330Pro) c.12973A>C (p.Thr4325Pro) c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12985A>C (p.Thr4329Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565322A>G	CA405672861	RYR1	c.1398A>G c.1380A>G c.12988A>G (p.Thr4330Ala) c.12973A>G (p.Thr4325Ala) c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12985A>G (p.Thr4329Ala)	gnomAD v4
19	g.38565322A>T	CA405672863	RYR1	c.1398A>T c.1380A>T c.12988A>T (p.Thr4330Ser) c.12973A>T (p.Thr4325Ser) c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12985A>T (p.Thr4329Ser)
19	g.38565323C>A	CA405672872	RYR1	c.1399C>A c.1381C>A c.12989C>A (p.Thr4330Asn) c.12974C>A (p.Thr4325Asn) c.12971C>A (p.Thr4324Asn) c.12956C>A (p.Thr4319Asn) c.12986C>A (p.Thr4329Asn)
19	g.38565323C>G	CA405672877	RYR1	c.1399C>G c.1381C>G c.12989C>G (p.Thr4330Ser) c.12974C>G (p.Thr4325Ser) c.12971C>G (p.Thr4324Ser) c.12956C>G (p.Thr4319Ser) c.12986C>G (p.Thr4329Ser)	gnomAD v3 gnomAD v4
19	g.38565323C>T	CA405672876	RYR1	c.1399C>T c.1381C>T c.12989C>T (p.Thr4330Ile) c.12974C>T (p.Thr4325Ile) c.12971C>T (p.Thr4324Ile) c.12956C>T (p.Thr4319Ile) c.12986C>T (p.Thr4329Ile)	ClinVar
19	g.38565324C>A	CA507355748	RYR1	c.1400C>A c.1382C>A c.12990C>A (p.Thr4330=) c.12975C>A (p.Thr4325=) c.12972C>A (p.Thr4324=) c.12957C>A (p.Thr4319=) c.12987C>A (p.Thr4329=)
19	g.38565324C=	CA2335084813	RYR1	c.1400C= c.1382C= c.12990C= (p.Thr4330=) c.12975C= (p.Thr4325=) c.12972C= (p.Thr4324=) c.12957C= (p.Thr4319=) c.12987C= (p.Thr4329=)
19	g.38565324C>G	CA10607086	RYR1	c.1400C>G c.1382C>G c.12990C>G (p.Thr4330=) c.12975C>G (p.Thr4325=) c.12972C>G (p.Thr4324=) c.12957C>G (p.Thr4319=) c.12987C>G (p.Thr4329=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565324C>T	CA024027	RYR1	c.1400C>T c.1382C>T c.12990C>T (p.Thr4330=) c.12975C>T (p.Thr4325=) c.12972C>T (p.Thr4324=) c.12957C>T (p.Thr4319=) c.12987C>T (p.Thr4329=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565325G>A	CA405672881	RYR1	c.1401G>A c.1383G>A c.12991G>A (p.Ala4331Thr) c.12976G>A (p.Ala4326Thr) c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12988G>A (p.Ala4330Thr)	dbSNP gnomAD v4
19	g.38565325G>C	CA405672883	RYR1	c.1401G>C c.1383G>C c.12991G>C (p.Ala4331Pro) c.12976G>C (p.Ala4326Pro) c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12988G>C (p.Ala4330Pro)
19	g.38565325G=	CA2335084814	RYR1	c.1401G= c.1383G= c.12991G= (p.Ala4331=) c.12976G= (p.Ala4326=) c.12973G= (p.Ala4325=) c.12958G= (p.Ala4320=) c.12988G= (p.Ala4330=)
19	g.38565325G>T	CA405672885	RYR1	c.1401G>T c.1383G>T c.12991G>T (p.Ala4331Ser) c.12976G>T (p.Ala4326Ser) c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12988G>T (p.Ala4330Ser)
19	g.38565325_38565326insTG	CA995731646	RYR1	c.1401_1402insTG c.1383_1384insTG c.12991_12992insTG (p.Ala4331ValfsTer11) c.12976_12977insTG (p.Ala4326ValfsTer11) c.12973_12974insTG (p.Ala4325ValfsTer11) c.12958_12959insTG (p.Ala4320ValfsTer11) c.12988_12989insTG (p.Ala4330ValfsTer11)	dbSNP gnomAD v3 gnomAD v4
19	g.38565327_38565340del	CA2576772102	RYR1	c.1403_1416del c.1385_1398del c.12993_13006del (p.Val4332LeufsTer?) c.12978_12991del (p.Val4327LeufsTer?) c.12975_12988del (p.Val4326LeufsTer?) c.12960_12973del (p.Val4321LeufsTer?) c.12990_13003del (p.Val4331LeufsTer?)
19	g.38565331_38565354dup	CA2584909139	RYR1	c.1407_1430dup c.1389_1412dup c.12997_13020dup (p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal) c.12982_13005dup (p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal) c.12979_13002dup (p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal) c.12964_12987dup (p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal) c.12994_13017dup (p.Val4339_Thr4340insAlaAlaLeuLeuTrpAlaAlaVal)	gnomAD v4
19	g.38565326C>A	CA405672888	RYR1	c.1402C>A c.1384C>A c.12992C>A (p.Ala4331Glu) c.12977C>A (p.Ala4326Glu) c.12974C>A (p.Ala4325Glu) c.12959C>A (p.Ala4320Glu) c.12989C>A (p.Ala4330Glu)
19	g.38565326C>G	CA405672891	RYR1	c.1402C>G c.1384C>G c.12992C>G (p.Ala4331Gly) c.12977C>G (p.Ala4326Gly) c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12989C>G (p.Ala4330Gly)
19	g.38565326C>T	CA405672892	RYR1	c.1402C>T c.1384C>T c.12992C>T (p.Ala4331Val) c.12977C>T (p.Ala4326Val) c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12989C>T (p.Ala4330Val)	ClinVar
19	g.38565327A>C	CA507355749	RYR1	c.1403A>C c.1385A>C c.12993A>C (p.Ala4331=) c.12978A>C (p.Ala4326=) c.12975A>C (p.Ala4325=) c.12960A>C (p.Ala4320=) c.12990A>C (p.Ala4330=)
19	g.38565327A>G	CA507355750	RYR1	c.1403A>G c.1385A>G c.12993A>G (p.Ala4331=) c.12978A>G (p.Ala4326=) c.12975A>G (p.Ala4325=) c.12960A>G (p.Ala4320=) c.12990A>G (p.Ala4330=)
19	g.38565327A>T	CA507355752	RYR1	c.1403A>T c.1385A>T c.12993A>T (p.Ala4331=) c.12978A>T (p.Ala4326=) c.12975A>T (p.Ala4325=) c.12960A>T (p.Ala4320=) c.12990A>T (p.Ala4330=)	ClinVar
19	g.38565328G>A	CA405672893	RYR1	c.1404G>A c.1386G>A c.12994G>A (p.Val4332Met) c.12979G>A (p.Val4327Met) c.12976G>A (p.Val4326Met) c.12961G>A (p.Val4321Met) c.12991G>A (p.Val4331Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38565328G>C	CA405672894	RYR1	c.1404G>C c.1386G>C c.12994G>C (p.Val4332Leu) c.12979G>C (p.Val4327Leu) c.12976G>C (p.Val4326Leu) c.12961G>C (p.Val4321Leu) c.12991G>C (p.Val4331Leu)
19	g.38565328G=	CA2335084815	RYR1	c.1404G= c.1386G= c.12994G= (p.Val4332=) c.12979G= (p.Val4327=) c.12976G= (p.Val4326=) c.12961G= (p.Val4321=) c.12991G= (p.Val4331=)
19	g.38565328G>T	CA405672895	RYR1	c.1404G>T c.1386G>T c.12994G>T (p.Val4332Leu) c.12979G>T (p.Val4327Leu) c.12976G>T (p.Val4326Leu) c.12961G>T (p.Val4321Leu) c.12991G>T (p.Val4331Leu)
19	g.38565329T>A	CA405672900	RYR1	c.1405T>A c.1387T>A c.12995T>A (p.Val4332Glu) c.12980T>A (p.Val4327Glu) c.12977T>A (p.Val4326Glu) c.12962T>A (p.Val4321Glu) c.12992T>A (p.Val4331Glu)
19	g.38565329T>C	CA405672898	RYR1	c.1405T>C c.1387T>C c.12995T>C (p.Val4332Ala) c.12980T>C (p.Val4327Ala) c.12977T>C (p.Val4326Ala) c.12962T>C (p.Val4321Ala) c.12992T>C (p.Val4331Ala)
19	g.38565329T>G	CA405672897	RYR1	c.1405T>G c.1387T>G c.12995T>G (p.Val4332Gly) c.12980T>G (p.Val4327Gly) c.12977T>G (p.Val4326Gly) c.12962T>G (p.Val4321Gly) c.12992T>G (p.Val4331Gly)
19	g.38565330G>A	CA507355756	RYR1	c.1406G>A c.1388G>A c.12996G>A (p.Val4332=) c.12981G>A (p.Val4327=) c.12978G>A (p.Val4326=) c.12963G>A (p.Val4321=) c.12993G>A (p.Val4331=)
19	g.38565330G>C	CA507355755	RYR1	c.1406G>C c.1388G>C c.12996G>C (p.Val4332=) c.12981G>C (p.Val4327=) c.12978G>C (p.Val4326=) c.12963G>C (p.Val4321=) c.12993G>C (p.Val4331=)
19	g.38565330G>T	CA507355754	RYR1	c.1406G>T c.1388G>T c.12996G>T (p.Val4332=) c.12981G>T (p.Val4327=) c.12978G>T (p.Val4326=) c.12963G>T (p.Val4321=) c.12993G>T (p.Val4331=)
19	g.38565331G>A	CA405672903	RYR1	c.1407G>A c.1389G>A c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.12979G>A (p.Ala4327Thr) c.12964G>A (p.Ala4322Thr) c.12994G>A (p.Ala4332Thr)
19	g.38565331G>C	CA405672906	RYR1	c.1407G>C c.1389G>C c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.12979G>C (p.Ala4327Pro) c.12964G>C (p.Ala4322Pro) c.12994G>C (p.Ala4332Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565331G=	CA2335084816	RYR1	c.1407G= c.1389G= c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.12979G= (p.Ala4327=) c.12964G= (p.Ala4322=) c.12994G= (p.Ala4332=)
19	g.38565331G>T	CA405672908	RYR1	c.1407G>T c.1389G>T c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.12979G>T (p.Ala4327Ser) c.12964G>T (p.Ala4322Ser) c.12994G>T (p.Ala4332Ser)
19	g.38565332C>A	CA405672910	RYR1	c.1408C>A c.1390C>A c.12998C>A (p.Ala4333Glu) c.12983C>A (p.Ala4328Glu) c.12980C>A (p.Ala4327Glu) c.12965C>A (p.Ala4322Glu) c.12995C>A (p.Ala4332Glu)
19	g.38565332C>G	CA405672914	RYR1	c.1408C>G c.1390C>G c.12998C>G (p.Ala4333Gly) c.12983C>G (p.Ala4328Gly) c.12980C>G (p.Ala4327Gly) c.12965C>G (p.Ala4322Gly) c.12995C>G (p.Ala4332Gly)
19	g.38565332C>T	CA405672917	RYR1	c.1408C>T c.1390C>T c.12998C>T (p.Ala4333Val) c.12983C>T (p.Ala4328Val) c.12980C>T (p.Ala4327Val) c.12965C>T (p.Ala4322Val) c.12995C>T (p.Ala4332Val)	gnomAD v4
19	g.38565333G>A	CA507355757	RYR1	c.1409G>A c.1391G>A c.12999G>A (p.Ala4333=) c.12984G>A (p.Ala4328=) c.12981G>A (p.Ala4327=) c.12966G>A (p.Ala4322=) c.12996G>A (p.Ala4332=)	dbSNP gnomAD v3 gnomAD v4
19	g.38565333G>C	CA507355758	RYR1	c.1409G>C c.1391G>C c.12999G>C (p.Ala4333=) c.12984G>C (p.Ala4328=) c.12981G>C (p.Ala4327=) c.12966G>C (p.Ala4322=) c.12996G>C (p.Ala4332=)	dbSNP
19	g.38565333G=	CA2335084817	RYR1	c.1409G= c.1391G= c.12999G= (p.Ala4333=) c.12984G= (p.Ala4328=) c.12981G= (p.Ala4327=) c.12966G= (p.Ala4322=) c.12996G= (p.Ala4332=)
19	g.38565333G>T	CA507355760	RYR1	c.1409G>T c.1391G>T c.12999G>T (p.Ala4333=) c.12984G>T (p.Ala4328=) c.12981G>T (p.Ala4327=) c.12966G>T (p.Ala4322=) c.12996G>T (p.Ala4332=)
19	g.38565334G>A	CA405672920	RYR1	c.1410G>A c.1392G>A c.13000G>A (p.Ala4334Thr) c.12985G>A (p.Ala4329Thr) c.12982G>A (p.Ala4328Thr) c.12967G>A (p.Ala4323Thr) c.12997G>A (p.Ala4333Thr)	dbSNP gnomAD v4
19	g.38565334G>C	CA405672921	RYR1	c.1410G>C c.1392G>C c.13000G>C (p.Ala4334Pro) c.12985G>C (p.Ala4329Pro) c.12982G>C (p.Ala4328Pro) c.12967G>C (p.Ala4323Pro) c.12997G>C (p.Ala4333Pro)
19	g.38565334G=	CA2335084818	RYR1	c.1410G= c.1392G= c.13000G= (p.Ala4334=) c.12985G= (p.Ala4329=) c.12982G= (p.Ala4328=) c.12967G= (p.Ala4323=) c.12997G= (p.Ala4333=)
19	g.38565334G>T	CA405672923	RYR1	c.1410G>T c.1392G>T c.13000G>T (p.Ala4334Ser) c.12985G>T (p.Ala4329Ser) c.12982G>T (p.Ala4328Ser) c.12967G>T (p.Ala4323Ser) c.12997G>T (p.Ala4333Ser)
19	g.38565335C>A	CA405672924	RYR1	c.1411C>A c.1393C>A c.13001C>A (p.Ala4334Glu) c.12986C>A (p.Ala4329Glu) c.12983C>A (p.Ala4328Glu) c.12968C>A (p.Ala4323Glu) c.12998C>A (p.Ala4333Glu)
19	g.38565335C>G	CA405672925	RYR1	c.1411C>G c.1393C>G c.13001C>G (p.Ala4334Gly) c.12986C>G (p.Ala4329Gly) c.12983C>G (p.Ala4328Gly) c.12968C>G (p.Ala4323Gly) c.12998C>G (p.Ala4333Gly)	dbSNP gnomAD v4
19	g.38565335C>T	CA405672928	RYR1	c.1411C>T c.1393C>T c.13001C>T (p.Ala4334Val) c.12986C>T (p.Ala4329Val) c.12983C>T (p.Ala4328Val) c.12968C>T (p.Ala4323Val) c.12998C>T (p.Ala4333Val)	gnomAD v4
19	g.38565336G>A	CA507355762	RYR1	c.1412G>A c.1394G>A c.13002G>A (p.Ala4334=) c.12987G>A (p.Ala4329=) c.12984G>A (p.Ala4328=) c.12969G>A (p.Ala4323=) c.12999G>A (p.Ala4333=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565336G>C	CA507355764	RYR1	c.1412G>C c.1394G>C c.13002G>C (p.Ala4334=) c.12987G>C (p.Ala4329=) c.12984G>C (p.Ala4328=) c.12969G>C (p.Ala4323=) c.12999G>C (p.Ala4333=)
19	g.38565336G=	CA2335084819	RYR1	c.1412G= c.1394G= c.13002G= (p.Ala4334=) c.12987G= (p.Ala4329=) c.12984G= (p.Ala4328=) c.12969G= (p.Ala4323=) c.12999G= (p.Ala4333=)
19	g.38565336G>T	CA507355763	RYR1	c.1412G>T c.1394G>T c.13002G>T (p.Ala4334=) c.12987G>T (p.Ala4329=) c.12984G>T (p.Ala4328=) c.12969G>T (p.Ala4323=) c.12999G>T (p.Ala4333=)	gnomAD v4
19	g.38565337C>A	CA405672933	RYR1	c.1413C>A c.1395C>A c.13003C>A (p.Leu4335Met) c.12988C>A (p.Leu4330Met) c.12985C>A (p.Leu4329Met) c.12970C>A (p.Leu4324Met) c.13000C>A (p.Leu4334Met)
19	g.38565337C>G	CA405672931	RYR1	c.1413C>G c.1395C>G c.13003C>G (p.Leu4335Val) c.12988C>G (p.Leu4330Val) c.12985C>G (p.Leu4329Val) c.12970C>G (p.Leu4324Val) c.13000C>G (p.Leu4334Val)
19	g.38565337C>T	CA507355765	RYR1	c.1413C>T c.1395C>T c.13003C>T (p.Leu4335=) c.12988C>T (p.Leu4330=) c.12985C>T (p.Leu4329=) c.12970C>T (p.Leu4324=) c.13000C>T (p.Leu4334=)
19	g.38565347_38565412del	CA2814346185	RYR1	c.1423_1488del c.1405_1470del c.13013_13078del (p.Ala4338_Trp4359del) c.12998_13063del (p.Ala4333_Trp4354del) c.12995_13060del (p.Ala4332_Trp4353del) c.12980_13045del (p.Ala4327_Trp4348del) c.13010_13075del (p.Ala4337_Trp4358del)
19	g.38565338T>A	CA405672935	RYR1	c.1414T>A c.1396T>A c.13004T>A (p.Leu4335Gln) c.12989T>A (p.Leu4330Gln) c.12986T>A (p.Leu4329Gln) c.12971T>A (p.Leu4324Gln) c.13001T>A (p.Leu4334Gln)
19	g.38565338T>C	CA405672940	RYR1	c.1414T>C c.1396T>C c.13004T>C (p.Leu4335Pro) c.12989T>C (p.Leu4330Pro) c.12986T>C (p.Leu4329Pro) c.12971T>C (p.Leu4324Pro) c.13001T>C (p.Leu4334Pro)
19	g.38565338T>G	CA405672938	RYR1	c.1414T>G c.1396T>G c.13004T>G (p.Leu4335Arg) c.12989T>G (p.Leu4330Arg) c.12986T>G (p.Leu4329Arg) c.12971T>G (p.Leu4324Arg) c.13001T>G (p.Leu4334Arg)	dbSNP gnomAD v3 gnomAD v4
19	g.38565338T=	CA2335084820	RYR1	c.1414T= c.1396T= c.13004T= (p.Leu4335=) c.12989T= (p.Leu4330=) c.12986T= (p.Leu4329=) c.12971T= (p.Leu4324=) c.13001T= (p.Leu4334=)
19	g.38565339G>A	CA507355767	RYR1	c.1415G>A c.1397G>A c.13005G>A (p.Leu4335=) c.12990G>A (p.Leu4330=) c.12987G>A (p.Leu4329=) c.12972G>A (p.Leu4324=) c.13002G>A (p.Leu4334=)	gnomAD v4
19	g.38565339G>C	CA507355768	RYR1	c.1415G>C c.1397G>C c.13005G>C (p.Leu4335=) c.12990G>C (p.Leu4330=) c.12987G>C (p.Leu4329=) c.12972G>C (p.Leu4324=) c.13002G>C (p.Leu4334=)	ClinVar
19	g.38565339G>T	CA507355769	RYR1	c.1415G>T c.1397G>T c.13005G>T (p.Leu4335=) c.12990G>T (p.Leu4330=) c.12987G>T (p.Leu4329=) c.12972G>T (p.Leu4324=) c.13002G>T (p.Leu4334=)	gnomAD v4
19	g.38565340C>A	CA405672942	RYR1	c.1416C>A c.1398C>A c.13006C>A (p.Leu4336Ile) c.12991C>A (p.Leu4331Ile) c.12988C>A (p.Leu4330Ile) c.12973C>A (p.Leu4325Ile) c.13003C>A (p.Leu4335Ile)
19	g.38565340C>G	CA405672952	RYR1	c.1416C>G c.1398C>G c.13006C>G (p.Leu4336Val) c.12991C>G (p.Leu4331Val) c.12988C>G (p.Leu4330Val) c.12973C>G (p.Leu4325Val) c.13003C>G (p.Leu4335Val)
19	g.38565340C>T	CA405672950	RYR1	c.1416C>T c.1398C>T c.13006C>T (p.Leu4336Phe) c.12991C>T (p.Leu4331Phe) c.12988C>T (p.Leu4330Phe) c.12973C>T (p.Leu4325Phe) c.13003C>T (p.Leu4335Phe)	gnomAD v4
19	g.38565341T>A	CA405672954	RYR1	c.1417T>A c.1399T>A c.13007T>A (p.Leu4336His) c.12992T>A (p.Leu4331His) c.12989T>A (p.Leu4330His) c.12974T>A (p.Leu4325His) c.13004T>A (p.Leu4335His)
19	g.38565341T>C	CA405672969	RYR1	c.1417T>C c.1399T>C c.13007T>C (p.Leu4336Pro) c.12992T>C (p.Leu4331Pro) c.12989T>C (p.Leu4330Pro) c.12974T>C (p.Leu4325Pro) c.13004T>C (p.Leu4335Pro)
19	g.38565341T>G	CA405672965	RYR1	c.1417T>G c.1399T>G c.13007T>G (p.Leu4336Arg) c.12992T>G (p.Leu4331Arg) c.12989T>G (p.Leu4330Arg) c.12974T>G (p.Leu4325Arg) c.13004T>G (p.Leu4335Arg)
19	g.38565341_38565361delinsTCTGGGCAGCAGTGACGCGCG	CA2335084821	RYR1	c.1417_1437delinsTCTGGGCAGCAGTGACGCGCG c.1399_1419delinsTCTGGGCAGCAGTGACGCGCG c.13007_13027delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4336=) c.12992_13012delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4331=) c.12989_13009delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4330=) c.12974_12994delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4325=) c.13004_13024delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4335=)
19	g.38565342C>A	CA507355773	RYR1	c.1418C>A c.1400C>A c.13008C>A (p.Leu4336=) c.12993C>A (p.Leu4331=) c.12990C>A (p.Leu4330=) c.12975C>A (p.Leu4325=) c.13005C>A (p.Leu4335=)
19	g.38565342C=	CA2335084822	RYR1	c.1418C= c.1400C= c.13008C= (p.Leu4336=) c.12993C= (p.Leu4331=) c.12990C= (p.Leu4330=) c.12975C= (p.Leu4325=) c.13005C= (p.Leu4335=)
19	g.38565342C>G	CA507355775	RYR1	c.1418C>G c.1400C>G c.13008C>G (p.Leu4336=) c.12993C>G (p.Leu4331=) c.12990C>G (p.Leu4330=) c.12975C>G (p.Leu4325=) c.13005C>G (p.Leu4335=)	gnomAD v4
19	g.38565342C>T	CA507355774	RYR1	c.1418C>T c.1400C>T c.13008C>T (p.Leu4336=) c.12993C>T (p.Leu4331=) c.12990C>T (p.Leu4330=) c.12975C>T (p.Leu4325=) c.13005C>T (p.Leu4335=)	dbSNP
19	g.38565347_38565366del	CA024029	RYR1	c.1423_1442del c.1405_1424del c.13013_13032del (p.Ala4338GlyfsTer?) c.12998_13017del (p.Ala4333GlyfsTer?) c.12995_13014del (p.Ala4332GlyfsTer?) c.12980_12999del (p.Ala4327GlyfsTer?) c.13010_13029del (p.Ala4337GlyfsTer?)	ClinVar dbSNP gnomAD v4
19	g.38565343T>A	CA405672975	RYR1	c.1419T>A c.1401T>A c.13009T>A (p.Trp4337Arg) c.12994T>A (p.Trp4332Arg) c.12991T>A (p.Trp4331Arg) c.12976T>A (p.Trp4326Arg) c.13006T>A (p.Trp4336Arg)	gnomAD v4
19	g.38565343T>C	CA405672978	RYR1	c.1419T>C c.1401T>C c.13009T>C (p.Trp4337Arg) c.12994T>C (p.Trp4332Arg) c.12991T>C (p.Trp4331Arg) c.12976T>C (p.Trp4326Arg) c.13006T>C (p.Trp4336Arg)
19	g.38565343T>G	CA405672980	RYR1	c.1419T>G c.1401T>G c.13009T>G (p.Trp4337Gly) c.12994T>G (p.Trp4332Gly) c.12991T>G (p.Trp4331Gly) c.12976T>G (p.Trp4326Gly) c.13006T>G (p.Trp4336Gly)
19	g.38565344G>A	CA405672984	RYR1	c.1420G>A c.1402G>A c.13010G>A (p.Trp4337Ter) c.12995G>A (p.Trp4332Ter) c.12992G>A (p.Trp4331Ter) c.12977G>A (p.Trp4326Ter) c.13007G>A (p.Trp4336Ter)
19	g.38565344G>C	CA405672987	RYR1	c.1420G>C c.1402G>C c.13010G>C (p.Trp4337Ser) c.12995G>C (p.Trp4332Ser) c.12992G>C (p.Trp4331Ser) c.12977G>C (p.Trp4326Ser) c.13007G>C (p.Trp4336Ser)
19	g.38565344G>T	CA405672990	RYR1	c.1420G>T c.1402G>T c.13010G>T (p.Trp4337Leu) c.12995G>T (p.Trp4332Leu) c.12992G>T (p.Trp4331Leu) c.12977G>T (p.Trp4326Leu) c.13007G>T (p.Trp4336Leu)
19	g.38565346del	CA2573156324	RYR1	c.1422del c.1404del c.13012del (p.Ala4338GlnfsTer3) c.12997del (p.Ala4333GlnfsTer3) c.12994del (p.Ala4332GlnfsTer3) c.12979del (p.Ala4327GlnfsTer3) c.13009del (p.Ala4337GlnfsTer3)	ClinVar dbSNP
19	g.38565345G>A	CA405672991	RYR1	c.1421G>A c.1403G>A c.13011G>A (p.Trp4337Ter) c.12996G>A (p.Trp4332Ter) c.12993G>A (p.Trp4331Ter) c.12978G>A (p.Trp4326Ter) c.13008G>A (p.Trp4336Ter)	ClinVar gnomAD v4
19	g.38565345G>C	CA405672993	RYR1	c.1421G>C c.1403G>C c.13011G>C (p.Trp4337Cys) c.12996G>C (p.Trp4332Cys) c.12993G>C (p.Trp4331Cys) c.12978G>C (p.Trp4326Cys) c.13008G>C (p.Trp4336Cys)
19	g.38565345G>T	CA405672994	RYR1	c.1421G>T c.1403G>T c.13011G>T (p.Trp4337Cys) c.12996G>T (p.Trp4332Cys) c.12993G>T (p.Trp4331Cys) c.12978G>T (p.Trp4326Cys) c.13008G>T (p.Trp4336Cys)	gnomAD v4
19	g.38565346G>A	CA405672999	RYR1	c.1422G>A c.1404G>A c.13012G>A (p.Ala4338Thr) c.12997G>A (p.Ala4333Thr) c.12994G>A (p.Ala4332Thr) c.12979G>A (p.Ala4327Thr) c.13009G>A (p.Ala4337Thr)
19	g.38565346G>C	CA405672996	RYR1	c.1422G>C c.1404G>C c.13012G>C (p.Ala4338Pro) c.12997G>C (p.Ala4333Pro) c.12994G>C (p.Ala4332Pro) c.12979G>C (p.Ala4327Pro) c.13009G>C (p.Ala4337Pro)	gnomAD v4
19	g.38565346G>T	CA405672995	RYR1	c.1422G>T c.1404G>T c.13012G>T (p.Ala4338Ser) c.12997G>T (p.Ala4333Ser) c.12994G>T (p.Ala4332Ser) c.12979G>T (p.Ala4327Ser) c.13009G>T (p.Ala4337Ser)
19	g.38565347C>A	CA405673000	RYR1	c.1423C>A c.1405C>A c.13013C>A (p.Ala4338Glu) c.12998C>A (p.Ala4333Glu) c.12995C>A (p.Ala4332Glu) c.12980C>A (p.Ala4327Glu) c.13010C>A (p.Ala4337Glu)
19	g.38565347C>G	CA405673002	RYR1	c.1423C>G c.1405C>G c.13013C>G (p.Ala4338Gly) c.12998C>G (p.Ala4333Gly) c.12995C>G (p.Ala4332Gly) c.12980C>G (p.Ala4327Gly) c.13010C>G (p.Ala4337Gly)
19	g.38565347C>T	CA405673003	RYR1	c.1423C>T c.1405C>T c.13013C>T (p.Ala4338Val) c.12998C>T (p.Ala4333Val) c.12995C>T (p.Ala4332Val) c.12980C>T (p.Ala4327Val) c.13010C>T (p.Ala4337Val)	ClinVar gnomAD v4
19	g.38565348A>C	CA507355778	RYR1	c.1424A>C c.1406A>C c.13014A>C (p.Ala4338=) c.12999A>C (p.Ala4333=) c.12996A>C (p.Ala4332=) c.12981A>C (p.Ala4327=) c.13011A>C (p.Ala4337=)
19	g.38565348A>G	CA507355779	RYR1	c.1424A>G c.1406A>G c.13014A>G (p.Ala4338=) c.12999A>G (p.Ala4333=) c.12996A>G (p.Ala4332=) c.12981A>G (p.Ala4327=) c.13011A>G (p.Ala4337=)	gnomAD v4
19	g.38565348A>T	CA507355780	RYR1	c.1424A>T c.1406A>T c.13014A>T (p.Ala4338=) c.12999A>T (p.Ala4333=) c.12996A>T (p.Ala4332=) c.12981A>T (p.Ala4327=) c.13011A>T (p.Ala4337=)
19	g.38565349G>A	CA405673004	RYR1	c.1425G>A c.1407G>A c.13015G>A (p.Ala4339Thr) c.13000G>A (p.Ala4334Thr) c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.13012G>A (p.Ala4338Thr)	gnomAD v4
19	g.38565349G>C	CA16621737	RYR1	c.1425G>C c.1407G>C c.13015G>C (p.Ala4339Pro) c.13000G>C (p.Ala4334Pro) c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.13012G>C (p.Ala4338Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565349G=	CA2335084823	RYR1	c.1425G= c.1407G= c.13015G= (p.Ala4339=) c.13000G= (p.Ala4334=) c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.13012G= (p.Ala4338=)
19	g.38565349G>T	CA405673005	RYR1	c.1425G>T c.1407G>T c.13015G>T (p.Ala4339Ser) c.13000G>T (p.Ala4334Ser) c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.13012G>T (p.Ala4338Ser)
19	g.38565350C>A	CA405673007	RYR1	c.1426C>A c.1408C>A c.13016C>A (p.Ala4339Glu) c.13001C>A (p.Ala4334Glu) c.12998C>A (p.Ala4333Glu) c.12983C>A (p.Ala4328Glu) c.13013C>A (p.Ala4338Glu)	dbSNP
19	g.38565350C>G	CA405673008	RYR1	c.1426C>G c.1408C>G c.13016C>G (p.Ala4339Gly) c.13001C>G (p.Ala4334Gly) c.12998C>G (p.Ala4333Gly) c.12983C>G (p.Ala4328Gly) c.13013C>G (p.Ala4338Gly)
19	g.38565350C>T	CA405673012	RYR1	c.1426C>T c.1408C>T c.13016C>T (p.Ala4339Val) c.13001C>T (p.Ala4334Val) c.12998C>T (p.Ala4333Val) c.12983C>T (p.Ala4328Val) c.13013C>T (p.Ala4338Val)	gnomAD v4
19	g.38565351A>C	CA507355785	RYR1	c.1427A>C c.1409A>C c.13017A>C (p.Ala4339=) c.13002A>C (p.Ala4334=) c.12999A>C (p.Ala4333=) c.12984A>C (p.Ala4328=) c.13014A>C (p.Ala4338=)
19	g.38565351A>G	CA507355783	RYR1	c.1427A>G c.1409A>G c.13017A>G (p.Ala4339=) c.13002A>G (p.Ala4334=) c.12999A>G (p.Ala4333=) c.12984A>G (p.Ala4328=) c.13014A>G (p.Ala4338=)	gnomAD v4
19	g.38565351A>T	CA507355784	RYR1	c.1427A>T c.1409A>T c.13017A>T (p.Ala4339=) c.13002A>T (p.Ala4334=) c.12999A>T (p.Ala4333=) c.12984A>T (p.Ala4328=) c.13014A>T (p.Ala4338=)
19	g.38565352G>A	CA405673014	RYR1	c.1428G>A c.1410G>A c.13018G>A (p.Val4340Met) c.13003G>A (p.Val4335Met) c.13000G>A (p.Val4334Met) c.12985G>A (p.Val4329Met) c.13015G>A (p.Val4339Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565352G>C	CA405673015	RYR1	c.1428G>C c.1410G>C c.13018G>C (p.Val4340Leu) c.13003G>C (p.Val4335Leu) c.13000G>C (p.Val4334Leu) c.12985G>C (p.Val4329Leu) c.13015G>C (p.Val4339Leu)	dbSNP
19	g.38565352G=	CA2335084824	RYR1	c.1428G= c.1410G= c.13018G= (p.Val4340=) c.13003G= (p.Val4335=) c.13000G= (p.Val4334=) c.12985G= (p.Val4329=) c.13015G= (p.Val4339=)
19	g.38565352G>T	CA405673013	RYR1	c.1428G>T c.1410G>T c.13018G>T (p.Val4340Leu) c.13003G>T (p.Val4335Leu) c.13000G>T (p.Val4334Leu) c.12985G>T (p.Val4329Leu) c.13015G>T (p.Val4339Leu)
19	g.38565353T>A	CA405673017	RYR1	c.1429T>A c.1411T>A c.13019T>A (p.Val4340Glu) c.13004T>A (p.Val4335Glu) c.13001T>A (p.Val4334Glu) c.12986T>A (p.Val4329Glu) c.13016T>A (p.Val4339Glu)
19	g.38565353T>C	CA405673019	RYR1	c.1429T>C c.1411T>C c.13019T>C (p.Val4340Ala) c.13004T>C (p.Val4335Ala) c.13001T>C (p.Val4334Ala) c.12986T>C (p.Val4329Ala) c.13016T>C (p.Val4339Ala)	gnomAD v4
19	g.38565353T>G	CA405673023	RYR1	c.1429T>G c.1411T>G c.13019T>G (p.Val4340Gly) c.13004T>G (p.Val4335Gly) c.13001T>G (p.Val4334Gly) c.12986T>G (p.Val4329Gly) c.13016T>G (p.Val4339Gly)
19	g.38565354G>A	CA507355788	RYR1	c.1430G>A c.1412G>A c.13020G>A (p.Val4340=) c.13005G>A (p.Val4335=) c.13002G>A (p.Val4334=) c.12987G>A (p.Val4329=) c.13017G>A (p.Val4339=)	ClinVar gnomAD v4
19	g.38565354G>C	CA507355789	RYR1	c.1430G>C c.1412G>C c.13020G>C (p.Val4340=) c.13005G>C (p.Val4335=) c.13002G>C (p.Val4334=) c.12987G>C (p.Val4329=) c.13017G>C (p.Val4339=)
19	g.38565354G>T	CA507355790	RYR1	c.1430G>T c.1412G>T c.13020G>T (p.Val4340=) c.13005G>T (p.Val4335=) c.13002G>T (p.Val4334=) c.12987G>T (p.Val4329=) c.13017G>T (p.Val4339=)
19	g.38565355A>C	CA405673026	RYR1	c.1431A>C c.1413A>C c.13021A>C (p.Thr4341Pro) c.13006A>C (p.Thr4336Pro) c.13003A>C (p.Thr4335Pro) c.12988A>C (p.Thr4330Pro) c.13018A>C (p.Thr4340Pro)
19	g.38565355A>G	CA405673032	RYR1	c.1431A>G c.1413A>G c.13021A>G (p.Thr4341Ala) c.13006A>G (p.Thr4336Ala) c.13003A>G (p.Thr4335Ala) c.12988A>G (p.Thr4330Ala) c.13018A>G (p.Thr4340Ala)	gnomAD v4
19	g.38565355A>T	CA405673035	RYR1	c.1431A>T c.1413A>T c.13021A>T (p.Thr4341Ser) c.13006A>T (p.Thr4336Ser) c.13003A>T (p.Thr4335Ser) c.12988A>T (p.Thr4330Ser) c.13018A>T (p.Thr4340Ser)
19	g.38565355_38565388delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG	CA2335084825	RYR1	c.1431_1464delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG c.1413_1446delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4341=) c.13006_13039delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4336=) c.13003_13036delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4335=) c.12988_13021delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4330=) c.13018_13051delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4340=)
19	g.38565356C>A	CA405673036	RYR1	c.1432C>A c.1414C>A c.13022C>A (p.Thr4341Lys) c.13007C>A (p.Thr4336Lys) c.13004C>A (p.Thr4335Lys) c.12989C>A (p.Thr4330Lys) c.13019C>A (p.Thr4340Lys)	gnomAD v4
19	g.38565356C=	CA2335084827	RYR1	c.1432C= c.1414C= c.13022C= (p.Thr4341=) c.13007C= (p.Thr4336=) c.13004C= (p.Thr4335=) c.12989C= (p.Thr4330=) c.13019C= (p.Thr4340=)
19	g.38565356C>G	CA405673038	RYR1	c.1432C>G c.1414C>G c.13022C>G (p.Thr4341Arg) c.13007C>G (p.Thr4336Arg) c.13004C>G (p.Thr4335Arg) c.12989C>G (p.Thr4330Arg) c.13019C>G (p.Thr4340Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565356C>T	CA059537	RYR1	c.1432C>T c.1414C>T c.13022C>T (p.Thr4341Met) c.13007C>T (p.Thr4336Met) c.13004C>T (p.Thr4335Met) c.12989C>T (p.Thr4330Met) c.13019C>T (p.Thr4340Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565358_38565390del	CA308109466	RYR1	c.1434_1466del c.1416_1448del c.13024_13056del (p.Arg4342_Ala4352del) c.13009_13041del (p.Arg4337_Ala4347del) c.13006_13038del (p.Arg4336_Ala4346del) c.12991_13023del (p.Arg4331_Ala4341del) c.13021_13053del (p.Arg4341_Ala4351del)	dbSNP
19	g.38565356_38565391delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG	CA2335084826	RYR1	c.1432_1467delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG c.1414_1449delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4341=) c.13007_13042delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4336=) c.13004_13039delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4335=) c.12989_13024delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4330=) c.13019_13054delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4340=)
19	g.38565357G>A	CA507355794	RYR1	c.1433G>A c.1415G>A c.13023G>A (p.Thr4341=) c.13008G>A (p.Thr4336=) c.13005G>A (p.Thr4335=) c.12990G>A (p.Thr4330=) c.13020G>A (p.Thr4340=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565357G>C	CA507355795	RYR1	c.1433G>C c.1415G>C c.13023G>C (p.Thr4341=) c.13008G>C (p.Thr4336=) c.13005G>C (p.Thr4335=) c.12990G>C (p.Thr4330=) c.13020G>C (p.Thr4340=)	ClinVar
19	g.38565357G=	CA2335084828	RYR1	c.1433G= c.1415G= c.13023G= (p.Thr4341=) c.13008G= (p.Thr4336=) c.13005G= (p.Thr4335=) c.12990G= (p.Thr4330=) c.13020G= (p.Thr4340=)
19	g.38565357G>T	CA507355796	RYR1	c.1433G>T c.1415G>T c.13023G>T (p.Thr4341=) c.13008G>T (p.Thr4336=) c.13005G>T (p.Thr4335=) c.12990G>T (p.Thr4330=) c.13020G>T (p.Thr4340=)	gnomAD v4
19	g.38565357_38565358insGG	CA2335084829	RYR1	c.1433_1434insGG c.1415_1416insGG c.13023_13024insGG (p.Arg4342GlyfsTer?) c.13008_13009insGG (p.Arg4337GlyfsTer?) c.13005_13006insGG (p.Arg4336GlyfsTer?) c.12990_12991insGG (p.Arg4331GlyfsTer?) c.13020_13021insGG (p.Arg4341GlyfsTer?)	dbSNP
19	g.38565367_38565401del	CA995731663	RYR1	c.1443_1477del c.1425_1459del c.13033_13067del (p.Ala4345ProfsTer?) c.13018_13052del (p.Ala4340ProfsTer?) c.13015_13049del (p.Ala4339ProfsTer?) c.13000_13034del (p.Ala4334ProfsTer?) c.13030_13064del (p.Ala4344ProfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565358C>A	CA405673042	RYR1	c.1434C>A c.1416C>A c.13024C>A (p.Arg4342Ser) c.13009C>A (p.Arg4337Ser) c.13006C>A (p.Arg4336Ser) c.12991C>A (p.Arg4331Ser) c.13021C>A (p.Arg4341Ser)	dbSNP gnomAD v3 gnomAD v4
19	g.38565358C=	CA2335084830	RYR1	c.1434C= c.1416C= c.13024C= (p.Arg4342=) c.13009C= (p.Arg4337=) c.13006C= (p.Arg4336=) c.12991C= (p.Arg4331=) c.13021C= (p.Arg4341=)
19	g.38565358C>G	CA405673044	RYR1	c.1434C>G c.1416C>G c.13024C>G (p.Arg4342Gly) c.13009C>G (p.Arg4337Gly) c.13006C>G (p.Arg4336Gly) c.12991C>G (p.Arg4331Gly) c.13021C>G (p.Arg4341Gly)
19	g.38565358C>T	CA405673048	RYR1	c.1434C>T c.1416C>T c.13024C>T (p.Arg4342Cys) c.13009C>T (p.Arg4337Cys) c.13006C>T (p.Arg4336Cys) c.12991C>T (p.Arg4331Cys) c.13021C>T (p.Arg4341Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565359G>A	CA405673055	RYR1	c.1435G>A c.1417G>A c.13025G>A (p.Arg4342His) c.13010G>A (p.Arg4337His) c.13007G>A (p.Arg4336His) c.12992G>A (p.Arg4331His) c.13022G>A (p.Arg4341His)	dbSNP gnomAD v4
19	g.38565359G>C	CA405673050	RYR1	c.1435G>C c.1417G>C c.13025G>C (p.Arg4342Pro) c.13010G>C (p.Arg4337Pro) c.13007G>C (p.Arg4336Pro) c.12992G>C (p.Arg4331Pro) c.13022G>C (p.Arg4341Pro)
19	g.38565359G=	CA2335084831	RYR1	c.1435G= c.1417G= c.13025G= (p.Arg4342=) c.13010G= (p.Arg4337=) c.13007G= (p.Arg4336=) c.12992G= (p.Arg4331=) c.13022G= (p.Arg4341=)
19	g.38565359G>T	CA405673051	RYR1	c.1435G>T c.1417G>T c.13025G>T (p.Arg4342Leu) c.13010G>T (p.Arg4337Leu) c.13007G>T (p.Arg4336Leu) c.12992G>T (p.Arg4331Leu) c.13022G>T (p.Arg4341Leu)	gnomAD v4
19	g.38565360C>A	CA507355799	RYR1	c.1436C>A c.1418C>A c.13026C>A (p.Arg4342=) c.13011C>A (p.Arg4337=) c.13008C>A (p.Arg4336=) c.12993C>A (p.Arg4331=) c.13023C>A (p.Arg4341=)	gnomAD v4
19	g.38565360C>G	CA507355800	RYR1	c.1436C>G c.1418C>G c.13026C>G (p.Arg4342=) c.13011C>G (p.Arg4337=) c.13008C>G (p.Arg4336=) c.12993C>G (p.Arg4331=) c.13023C>G (p.Arg4341=)
19	g.38565360C>T	CA507355801	RYR1	c.1436C>T c.1418C>T c.13026C>T (p.Arg4342=) c.13011C>T (p.Arg4337=) c.13008C>T (p.Arg4336=) c.12993C>T (p.Arg4331=) c.13023C>T (p.Arg4341=)	ClinVar dbSNP gnomAD v4
19	g.38565366_38565374dup	CA308109474	RYR1	c.1442_1450dup c.1424_1432dup c.13032_13040dup (p.Gly4347_Ala4348insAlaAlaGly) c.13017_13025dup (p.Gly4342_Ala4343insAlaAlaGly) c.13014_13022dup (p.Gly4341_Ala4342insAlaAlaGly) c.12999_13007dup (p.Gly4336_Ala4337insAlaAlaGly) c.13029_13037dup (p.Gly4346_Ala4347insAlaAlaGly)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565361G>A	CA405673059	RYR1	c.1437G>A c.1419G>A c.13027G>A (p.Ala4343Thr) c.13012G>A (p.Ala4338Thr) c.13009G>A (p.Ala4337Thr) c.12994G>A (p.Ala4332Thr) c.13024G>A (p.Ala4342Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565361G>C	CA405673068	RYR1	c.1437G>C c.1419G>C c.13027G>C (p.Ala4343Pro) c.13012G>C (p.Ala4338Pro) c.13009G>C (p.Ala4337Pro) c.12994G>C (p.Ala4332Pro) c.13024G>C (p.Ala4342Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565361G=	CA2335084832	RYR1	c.1437G= c.1419G= c.13027G= (p.Ala4343=) c.13012G= (p.Ala4338=) c.13009G= (p.Ala4337=) c.12994G= (p.Ala4332=) c.13024G= (p.Ala4342=)
19	g.38565361G>T	CA405673072	RYR1	c.1437G>T c.1419G>T c.13027G>T (p.Ala4343Ser) c.13012G>T (p.Ala4338Ser) c.13009G>T (p.Ala4337Ser) c.12994G>T (p.Ala4332Ser) c.13024G>T (p.Ala4342Ser)	gnomAD v4
19	g.38565362C>A	CA405673075	RYR1	c.1438C>A c.1420C>A c.13028C>A (p.Ala4343Asp) c.13013C>A (p.Ala4338Asp) c.13010C>A (p.Ala4337Asp) c.12995C>A (p.Ala4332Asp) c.13025C>A (p.Ala4342Asp)	gnomAD v4
19	g.38565362C>G	CA405673077	RYR1	c.1438C>G c.1420C>G c.13028C>G (p.Ala4343Gly) c.13013C>G (p.Ala4338Gly) c.13010C>G (p.Ala4337Gly) c.12995C>G (p.Ala4332Gly) c.13025C>G (p.Ala4342Gly)
19	g.38565362C>T	CA405673078	RYR1	c.1438C>T c.1420C>T c.13028C>T (p.Ala4343Val) c.13013C>T (p.Ala4338Val) c.13010C>T (p.Ala4337Val) c.12995C>T (p.Ala4332Val) c.13025C>T (p.Ala4342Val)	gnomAD v4

Number of alleles fetched