Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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.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.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
19	g.38565363T>A	CA507355805	RYR1	c.1439T>A c.1421T>A c.13029T>A (p.Ala4343=) c.13014T>A (p.Ala4338=) c.13011T>A (p.Ala4337=) c.12996T>A (p.Ala4332=) c.13026T>A (p.Ala4342=)
19	g.38565363T>C	CA507355806	RYR1	c.1439T>C c.1421T>C c.13029T>C (p.Ala4343=) c.13014T>C (p.Ala4338=) c.13011T>C (p.Ala4337=) c.12996T>C (p.Ala4332=) c.13026T>C (p.Ala4342=)	ClinVar dbSNP gnomAD v4
19	g.38565363T>G	CA507355807	RYR1	c.1439T>G c.1421T>G c.13029T>G (p.Ala4343=) c.13014T>G (p.Ala4338=) c.13011T>G (p.Ala4337=) c.12996T>G (p.Ala4332=) c.13026T>G (p.Ala4342=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565363T=	CA2335084833	RYR1	c.1439T= c.1421T= c.13029T= (p.Ala4343=) c.13014T= (p.Ala4338=) c.13011T= (p.Ala4337=) c.12996T= (p.Ala4332=) c.13026T= (p.Ala4342=)
19	g.38565364G>A	CA405673082	RYR1	c.1440G>A c.1422G>A c.13030G>A (p.Gly4344Arg) c.13015G>A (p.Gly4339Arg) c.13012G>A (p.Gly4338Arg) c.12997G>A (p.Gly4333Arg) c.13027G>A (p.Gly4343Arg)
19	g.38565364G>C	CA405673083	RYR1	c.1440G>C c.1422G>C c.13030G>C (p.Gly4344Arg) c.13015G>C (p.Gly4339Arg) c.13012G>C (p.Gly4338Arg) c.12997G>C (p.Gly4333Arg) c.13027G>C (p.Gly4343Arg)
19	g.38565364G>T	CA405673087	RYR1	c.1440G>T c.1422G>T c.13030G>T (p.Gly4344Trp) c.13015G>T (p.Gly4339Trp) c.13012G>T (p.Gly4338Trp) c.12997G>T (p.Gly4333Trp) c.13027G>T (p.Gly4343Trp)	gnomAD v4
19	g.38565367del	CA2573054759	RYR1	c.1443del c.1425del c.13033del (p.Ala4345ProfsTer30) c.13018del (p.Ala4340ProfsTer30) c.13015del (p.Ala4339ProfsTer30) c.13000del (p.Ala4334ProfsTer30) c.13030del (p.Ala4344ProfsTer30)	ClinVar dbSNP gnomAD v4
19	g.38565365G>A	CA405673096	RYR1	c.1441G>A c.1423G>A c.13031G>A (p.Gly4344Glu) c.13016G>A (p.Gly4339Glu) c.13013G>A (p.Gly4338Glu) c.12998G>A (p.Gly4333Glu) c.13028G>A (p.Gly4343Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565365G>C	CA405673099	RYR1	c.1441G>C c.1423G>C c.13031G>C (p.Gly4344Ala) c.13016G>C (p.Gly4339Ala) c.13013G>C (p.Gly4338Ala) c.12998G>C (p.Gly4333Ala) c.13028G>C (p.Gly4343Ala)	gnomAD v4
19	g.38565365G=	CA2335084834	RYR1	c.1441G= c.1423G= c.13031G= (p.Gly4344=) c.13016G= (p.Gly4339=) c.13013G= (p.Gly4338=) c.12998G= (p.Gly4333=) c.13028G= (p.Gly4343=)
19	g.38565365G>T	CA405673100	RYR1	c.1441G>T c.1423G>T c.13031G>T (p.Gly4344Val) c.13016G>T (p.Gly4339Val) c.13013G>T (p.Gly4338Val) c.12998G>T (p.Gly4333Val) c.13028G>T (p.Gly4343Val)	gnomAD v4
19	g.38565366G>A	CA507355811	RYR1	c.1442G>A c.1424G>A c.13032G>A (p.Gly4344=) c.13017G>A (p.Gly4339=) c.13014G>A (p.Gly4338=) c.12999G>A (p.Gly4333=) c.13029G>A (p.Gly4343=)	gnomAD v4
19	g.38565366G>C	CA507355812	RYR1	c.1442G>C c.1424G>C c.13032G>C (p.Gly4344=) c.13017G>C (p.Gly4339=) c.13014G>C (p.Gly4338=) c.12999G>C (p.Gly4333=) c.13029G>C (p.Gly4343=)	gnomAD v4
19	g.38565366G>T	CA507355814	RYR1	c.1442G>T c.1424G>T c.13032G>T (p.Gly4344=) c.13017G>T (p.Gly4339=) c.13014G>T (p.Gly4338=) c.12999G>T (p.Gly4333=) c.13029G>T (p.Gly4343=)	gnomAD v4
19	g.38565367G>A	CA405673116	RYR1	c.1443G>A c.1425G>A c.13033G>A (p.Ala4345Thr) c.13018G>A (p.Ala4340Thr) c.13015G>A (p.Ala4339Thr) c.13000G>A (p.Ala4334Thr) c.13030G>A (p.Ala4344Thr)	gnomAD v4
19	g.38565367G>C	CA308109477	RYR1	c.1443G>C c.1425G>C c.13033G>C (p.Ala4345Pro) c.13018G>C (p.Ala4340Pro) c.13015G>C (p.Ala4339Pro) c.13000G>C (p.Ala4334Pro) c.13030G>C (p.Ala4344Pro)	dbSNP gnomAD v4
19	g.38565367G=	CA2335084835	RYR1	c.1443G= c.1425G= c.13033G= (p.Ala4345=) c.13018G= (p.Ala4340=) c.13015G= (p.Ala4339=) c.13000G= (p.Ala4334=) c.13030G= (p.Ala4344=)
19	g.38565367G>T	CA405673113	RYR1	c.1443G>T c.1425G>T c.13033G>T (p.Ala4345Ser) c.13018G>T (p.Ala4340Ser) c.13015G>T (p.Ala4339Ser) c.13000G>T (p.Ala4334Ser) c.13030G>T (p.Ala4344Ser)	gnomAD v4
19	g.38565368C>A	CA405673121	RYR1	c.1444C>A c.1426C>A c.13034C>A (p.Ala4345Asp) c.13019C>A (p.Ala4340Asp) c.13016C>A (p.Ala4339Asp) c.13001C>A (p.Ala4334Asp) c.13031C>A (p.Ala4344Asp)	gnomAD v4
19	g.38565368C>G	CA405673124	RYR1	c.1444C>G c.1426C>G c.13034C>G (p.Ala4345Gly) c.13019C>G (p.Ala4340Gly) c.13016C>G (p.Ala4339Gly) c.13001C>G (p.Ala4334Gly) c.13031C>G (p.Ala4344Gly)
19	g.38565368C>T	CA405673128	RYR1	c.1444C>T c.1426C>T c.13034C>T (p.Ala4345Val) c.13019C>T (p.Ala4340Val) c.13016C>T (p.Ala4339Val) c.13001C>T (p.Ala4334Val) c.13031C>T (p.Ala4344Val)	gnomAD v4
19	g.38565369_38565403del	CA2584909140	RYR1	c.1445_1479del c.1427_1461del c.13035_13069del (p.Gly4347LeufsTer?) c.13020_13054del (p.Gly4342LeufsTer?) c.13017_13051del (p.Gly4341LeufsTer?) c.13002_13036del (p.Gly4336LeufsTer?) c.13032_13066del (p.Gly4346LeufsTer?)	gnomAD v4
19	g.38565369C>A	CA507355818	RYR1	c.1445C>A c.1427C>A c.13035C>A (p.Ala4345=) c.13020C>A (p.Ala4340=) c.13017C>A (p.Ala4339=) c.13002C>A (p.Ala4334=) c.13032C>A (p.Ala4344=)	gnomAD v4
19	g.38565369C=	CA2335084836	RYR1	c.1445C= c.1427C= c.13035C= (p.Ala4345=) c.13020C= (p.Ala4340=) c.13017C= (p.Ala4339=) c.13002C= (p.Ala4334=) c.13032C= (p.Ala4344=)
19	g.38565369C>G	CA507355819	RYR1	c.1445C>G c.1427C>G c.13035C>G (p.Ala4345=) c.13020C>G (p.Ala4340=) c.13017C>G (p.Ala4339=) c.13002C>G (p.Ala4334=) c.13032C>G (p.Ala4344=)
19	g.38565369C>T	CA308109479	RYR1	c.1445C>T c.1427C>T c.13035C>T (p.Ala4345=) c.13020C>T (p.Ala4340=) c.13017C>T (p.Ala4339=) c.13002C>T (p.Ala4334=) c.13032C>T (p.Ala4344=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565375_38565400del	CA2576772103	RYR1	c.1451_1476del c.1433_1458del c.13041_13066del (p.Ala4348ProfsTer?) c.13026_13051del (p.Ala4343ProfsTer?) c.13023_13048del (p.Ala4342ProfsTer?) c.13008_13033del (p.Ala4337ProfsTer?) c.13038_13063del (p.Ala4347ProfsTer?)	ClinVar gnomAD v4
19	g.38565370del	CA2584909141	RYR1	c.1446del c.1428del c.13036del (p.Ala4346LeufsTer29) c.13021del (p.Ala4341LeufsTer29) c.13018del (p.Ala4340LeufsTer29) c.13003del (p.Ala4335LeufsTer29) c.13033del (p.Ala4345LeufsTer29)	gnomAD v4
19	g.38565370G>A	CA405673130	RYR1	c.1446G>A c.1428G>A c.13036G>A (p.Ala4346Thr) c.13021G>A (p.Ala4341Thr) c.13018G>A (p.Ala4340Thr) c.13003G>A (p.Ala4335Thr) c.13033G>A (p.Ala4345Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565370G>C	CA405673134	RYR1	c.1446G>C c.1428G>C c.13036G>C (p.Ala4346Pro) c.13021G>C (p.Ala4341Pro) c.13018G>C (p.Ala4340Pro) c.13003G>C (p.Ala4335Pro) c.13033G>C (p.Ala4345Pro)
19	g.38565370G=	CA2335084837	RYR1	c.1446G= c.1428G= c.13036G= (p.Ala4346=) c.13021G= (p.Ala4341=) c.13018G= (p.Ala4340=) c.13003G= (p.Ala4335=) c.13033G= (p.Ala4345=)
19	g.38565370G>T	CA405673137	RYR1	c.1446G>T c.1428G>T c.13036G>T (p.Ala4346Ser) c.13021G>T (p.Ala4341Ser) c.13018G>T (p.Ala4340Ser) c.13003G>T (p.Ala4335Ser) c.13033G>T (p.Ala4345Ser)	gnomAD v4
19	g.38565371C>A	CA405673140	RYR1	c.1447C>A c.1429C>A c.13037C>A (p.Ala4346Asp) c.13022C>A (p.Ala4341Asp) c.13019C>A (p.Ala4340Asp) c.13004C>A (p.Ala4335Asp) c.13034C>A (p.Ala4345Asp)	gnomAD v4
19	g.38565371C>G	CA405673155	RYR1	c.1447C>G c.1429C>G c.13037C>G (p.Ala4346Gly) c.13022C>G (p.Ala4341Gly) c.13019C>G (p.Ala4340Gly) c.13004C>G (p.Ala4335Gly) c.13034C>G (p.Ala4345Gly)	gnomAD v4
19	g.38565371C>T	CA405673143	RYR1	c.1447C>T c.1429C>T c.13037C>T (p.Ala4346Val) c.13022C>T (p.Ala4341Val) c.13019C>T (p.Ala4340Val) c.13004C>T (p.Ala4335Val) c.13034C>T (p.Ala4345Val)	gnomAD v4
19	g.38565371_38565372del	CA2584909142	RYR1	c.1447_1448del c.1429_1430del c.13037_13038del (p.Ala4346GlyfsTer?) c.13022_13023del (p.Ala4341GlyfsTer?) c.13019_13020del (p.Ala4340GlyfsTer?) c.13004_13005del (p.Ala4335GlyfsTer?) c.13034_13035del (p.Ala4345GlyfsTer?)	gnomAD v4
19	g.38565372T>A	CA507355822	RYR1	c.1448T>A c.1430T>A c.13038T>A (p.Ala4346=) c.13023T>A (p.Ala4341=) c.13020T>A (p.Ala4340=) c.13005T>A (p.Ala4335=) c.13035T>A (p.Ala4345=)
19	g.38565372T>C	CA059539	RYR1	c.1448T>C c.1430T>C c.13038T>C (p.Ala4346=) c.13023T>C (p.Ala4341=) c.13020T>C (p.Ala4340=) c.13005T>C (p.Ala4335=) c.13035T>C (p.Ala4345=)	ClinVar dbSNP ExAC gnomAD v4
19	g.38565372T>G	CA507355820	RYR1	c.1448T>G c.1430T>G c.13038T>G (p.Ala4346=) c.13023T>G (p.Ala4341=) c.13020T>G (p.Ala4340=) c.13005T>G (p.Ala4335=) c.13035T>G (p.Ala4345=)	dbSNP gnomAD v4
19	g.38565372T=	CA2335084838	RYR1	c.1448T= c.1430T= c.13038T= (p.Ala4346=) c.13023T= (p.Ala4341=) c.13020T= (p.Ala4340=) c.13005T= (p.Ala4335=) c.13035T= (p.Ala4345=)
19	g.38565373G>A	CA405673159	RYR1	c.1449G>A c.1431G>A c.13039G>A (p.Gly4347Ser) c.13024G>A (p.Gly4342Ser) c.13021G>A (p.Gly4341Ser) c.13006G>A (p.Gly4336Ser) c.13036G>A (p.Gly4346Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565373G>C	CA405673169	RYR1	c.1449G>C c.1431G>C c.13039G>C (p.Gly4347Arg) c.13024G>C (p.Gly4342Arg) c.13021G>C (p.Gly4341Arg) c.13006G>C (p.Gly4336Arg) c.13036G>C (p.Gly4346Arg)	gnomAD v4
19	g.38565373G=	CA2335084839	RYR1	c.1449G= c.1431G= c.13039G= (p.Gly4347=) c.13024G= (p.Gly4342=) c.13021G= (p.Gly4341=) c.13006G= (p.Gly4336=) c.13036G= (p.Gly4346=)
19	g.38565373G>T	CA405673171	RYR1	c.1449G>T c.1431G>T c.13039G>T (p.Gly4347Cys) c.13024G>T (p.Gly4342Cys) c.13021G>T (p.Gly4341Cys) c.13006G>T (p.Gly4336Cys) c.13036G>T (p.Gly4346Cys)	gnomAD v4
19	g.38565374G>A	CA405673182	RYR1	c.1450G>A c.1432G>A c.13040G>A (p.Gly4347Asp) c.13025G>A (p.Gly4342Asp) c.13022G>A (p.Gly4341Asp) c.13007G>A (p.Gly4336Asp) c.13037G>A (p.Gly4346Asp)	gnomAD v4
19	g.38565374G>C	CA405673172	RYR1	c.1450G>C c.1432G>C c.13040G>C (p.Gly4347Ala) c.13025G>C (p.Gly4342Ala) c.13022G>C (p.Gly4341Ala) c.13007G>C (p.Gly4336Ala) c.13037G>C (p.Gly4346Ala)
19	g.38565374G>T	CA405673174	RYR1	c.1450G>T c.1432G>T c.13040G>T (p.Gly4347Val) c.13025G>T (p.Gly4342Val) c.13022G>T (p.Gly4341Val) c.13007G>T (p.Gly4336Val) c.13037G>T (p.Gly4346Val)	gnomAD v4
19	g.38565375C>A	CA507355825	RYR1	c.1451C>A c.1433C>A c.13041C>A (p.Gly4347=) c.13026C>A (p.Gly4342=) c.13023C>A (p.Gly4341=) c.13008C>A (p.Gly4336=) c.13038C>A (p.Gly4346=)	gnomAD v4
19	g.38565375C=	CA2335084840	RYR1	c.1451C= c.1433C= c.13041C= (p.Gly4347=) c.13026C= (p.Gly4342=) c.13023C= (p.Gly4341=) c.13008C= (p.Gly4336=) c.13038C= (p.Gly4346=)
19	g.38565375C>G	CA507355826	RYR1	c.1451C>G c.1433C>G c.13041C>G (p.Gly4347=) c.13026C>G (p.Gly4342=) c.13023C>G (p.Gly4341=) c.13008C>G (p.Gly4336=) c.13038C>G (p.Gly4346=)	dbSNP
19	g.38565375C>T	CA507355827	RYR1	c.1451C>T c.1433C>T c.13041C>T (p.Gly4347=) c.13026C>T (p.Gly4342=) c.13023C>T (p.Gly4341=) c.13008C>T (p.Gly4336=) c.13038C>T (p.Gly4346=)	dbSNP gnomAD v4
19	g.38565376G>A	CA405673185	RYR1	c.1452G>A c.1434G>A c.13042G>A (p.Ala4348Thr) c.13027G>A (p.Ala4343Thr) c.13024G>A (p.Ala4342Thr) c.13009G>A (p.Ala4337Thr) c.13039G>A (p.Ala4347Thr)	ClinVar dbSNP gnomAD v4
19	g.38565376G>C	CA405673186	RYR1	c.1452G>C c.1434G>C c.13042G>C (p.Ala4348Pro) c.13027G>C (p.Ala4343Pro) c.13024G>C (p.Ala4342Pro) c.13009G>C (p.Ala4337Pro) c.13039G>C (p.Ala4347Pro)
19	g.38565376G>T	CA405673188	RYR1	c.1452G>T c.1434G>T c.13042G>T (p.Ala4348Ser) c.13027G>T (p.Ala4343Ser) c.13024G>T (p.Ala4342Ser) c.13009G>T (p.Ala4337Ser) c.13039G>T (p.Ala4347Ser)	gnomAD v4
19	g.38565381_38565392del	CA2584909143	RYR1	c.1457_1468del c.1439_1450del c.13047_13058del (p.Ala4350_Gly4353del) c.13032_13043del (p.Ala4345_Gly4348del) c.13029_13040del (p.Ala4344_Gly4347del) c.13014_13025del (p.Ala4339_Gly4342del) c.13044_13055del (p.Ala4349_Gly4352del)	gnomAD v4
19	g.38565377del	CA2584909144	RYR1	c.1453del c.1435del c.13043del (p.Ala4348GlyfsTer27) c.13028del (p.Ala4343GlyfsTer27) c.13025del (p.Ala4342GlyfsTer27) c.13010del (p.Ala4337GlyfsTer27) c.13040del (p.Ala4347GlyfsTer27)	gnomAD v4
19	g.38565377C>A	CA405673190	RYR1	c.1453C>A c.1435C>A c.13043C>A (p.Ala4348Glu) c.13028C>A (p.Ala4343Glu) c.13025C>A (p.Ala4342Glu) c.13010C>A (p.Ala4337Glu) c.13040C>A (p.Ala4347Glu)	gnomAD v4
19	g.38565377C=	CA2335084841	RYR1	c.1453C= c.1435C= c.13043C= (p.Ala4348=) c.13028C= (p.Ala4343=) c.13025C= (p.Ala4342=) c.13010C= (p.Ala4337=) c.13040C= (p.Ala4347=)
19	g.38565377C>G	CA405673192	RYR1	c.1453C>G c.1435C>G c.13043C>G (p.Ala4348Gly) c.13028C>G (p.Ala4343Gly) c.13025C>G (p.Ala4342Gly) c.13010C>G (p.Ala4337Gly) c.13040C>G (p.Ala4347Gly)	gnomAD v4
19	g.38565377C>T	CA405673195	RYR1	c.1453C>T c.1435C>T c.13043C>T (p.Ala4348Val) c.13028C>T (p.Ala4343Val) c.13025C>T (p.Ala4342Val) c.13010C>T (p.Ala4337Val) c.13040C>T (p.Ala4347Val)	dbSNP gnomAD v4
19	g.38565377_38565378delinsCG	CA2335084842	RYR1	c.1453_1454delinsCG c.1435_1436delinsCG c.13043_13044delinsCG (p.Ala4348=) c.13028_13029delinsCG (p.Ala4343=) c.13025_13026delinsCG (p.Ala4342=) c.13010_13011delinsCG (p.Ala4337=) c.13040_13041delinsCG (p.Ala4347=)
19	g.38565378G>A	CA024031	RYR1	c.1454G>A c.1436G>A c.13044G>A (p.Ala4348=) c.13029G>A (p.Ala4343=) c.13026G>A (p.Ala4342=) c.13011G>A (p.Ala4337=) c.13041G>A (p.Ala4347=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565378G>C	CA507355835	RYR1	c.1454G>C c.1436G>C c.13044G>C (p.Ala4348=) c.13029G>C (p.Ala4343=) c.13026G>C (p.Ala4342=) c.13011G>C (p.Ala4337=) c.13041G>C (p.Ala4347=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565378G=	CA2335084844	RYR1	c.1454G= c.1436G= c.13044G= (p.Ala4348=) c.13029G= (p.Ala4343=) c.13026G= (p.Ala4342=) c.13011G= (p.Ala4337=) c.13041G= (p.Ala4347=)
19	g.38565378G>T	CA507355834	RYR1	c.1454G>T c.1436G>T c.13044G>T (p.Ala4348=) c.13029G>T (p.Ala4343=) c.13026G>T (p.Ala4342=) c.13011G>T (p.Ala4337=) c.13041G>T (p.Ala4347=)	ClinVar dbSNP gnomAD v4
19	g.38565382dup	CA2584909145	RYR1	c.1458dup c.1440dup c.13048dup (p.Ala4350GlyfsTer?) c.13033dup (p.Ala4345GlyfsTer?) c.13030dup (p.Ala4344GlyfsTer?) c.13015dup (p.Ala4339GlyfsTer?) c.13045dup (p.Ala4349GlyfsTer?)	gnomAD v4
19	g.38565380_38565382dup	CA2335084843	RYR1	c.1456_1458dup c.1438_1440dup c.13046_13048dup (p.Gly4349_Ala4350insGly) c.13031_13033dup (p.Gly4344_Ala4345insGly) c.13028_13030dup (p.Gly4343_Ala4344insGly) c.13013_13015dup (p.Gly4338_Ala4339insGly) c.13043_13045dup (p.Gly4348_Ala4349insGly)	ClinVar dbSNP gnomAD v4
19	g.38565382del	CA633066828	RYR1	c.1458del c.1440del c.13048del (p.Ala4350ArgfsTer25) c.13033del (p.Ala4345ArgfsTer25) c.13030del (p.Ala4344ArgfsTer25) c.13015del (p.Ala4339ArgfsTer25) c.13045del (p.Ala4349ArgfsTer25)	dbSNP gnomAD v2 gnomAD v4
19	g.38565380_38565382del	CA2814346197	RYR1	c.1456_1458del c.1438_1440del c.13046_13048del (p.Gly4349del) c.13031_13033del (p.Gly4344del) c.13028_13030del (p.Gly4343del) c.13013_13015del (p.Gly4338del) c.13043_13045del (p.Gly4348del)
19	g.38565379G>A	CA405673197	RYR1	c.1455G>A c.1437G>A c.13045G>A (p.Gly4349Arg) c.13030G>A (p.Gly4344Arg) c.13027G>A (p.Gly4343Arg) c.13012G>A (p.Gly4338Arg) c.13042G>A (p.Gly4348Arg)	gnomAD v4
19	g.38565379G>C	CA405673201	RYR1	c.1455G>C c.1437G>C c.13045G>C (p.Gly4349Arg) c.13030G>C (p.Gly4344Arg) c.13027G>C (p.Gly4343Arg) c.13012G>C (p.Gly4338Arg) c.13042G>C (p.Gly4348Arg)
19	g.38565379G>T	CA405673210	RYR1	c.1455G>T c.1437G>T c.13045G>T (p.Gly4349Trp) c.13030G>T (p.Gly4344Trp) c.13027G>T (p.Gly4343Trp) c.13012G>T (p.Gly4338Trp) c.13042G>T (p.Gly4348Trp)	gnomAD v4
19	g.38565380G>A	CA405673212	RYR1	c.1456G>A c.1438G>A c.13046G>A (p.Gly4349Glu) c.13031G>A (p.Gly4344Glu) c.13028G>A (p.Gly4343Glu) c.13013G>A (p.Gly4338Glu) c.13043G>A (p.Gly4348Glu)	gnomAD v4
19	g.38565380G>C	CA405673214	RYR1	c.1456G>C c.1438G>C c.13046G>C (p.Gly4349Ala) c.13031G>C (p.Gly4344Ala) c.13028G>C (p.Gly4343Ala) c.13013G>C (p.Gly4338Ala) c.13043G>C (p.Gly4348Ala)	ClinVar dbSNP
19	g.38565380G=	CA2335084846	RYR1	c.1456G= c.1438G= c.13046G= (p.Gly4349=) c.13031G= (p.Gly4344=) c.13028G= (p.Gly4343=) c.13013G= (p.Gly4338=) c.13043G= (p.Gly4348=)
19	g.38565380G>T	CA405673216	RYR1	c.1456G>T c.1438G>T c.13046G>T (p.Gly4349Val) c.13031G>T (p.Gly4344Val) c.13028G>T (p.Gly4343Val) c.13013G>T (p.Gly4338Val) c.13043G>T (p.Gly4348Val)	gnomAD v4
19	g.38565380_38565383delinsGGGC	CA2335084845	RYR1	c.1456_1459delinsGGGC c.1438_1441delinsGGGC c.13046_13049delinsGGGC (p.Gly4349=) c.13031_13034delinsGGGC (p.Gly4344=) c.13028_13031delinsGGGC (p.Gly4343=) c.13013_13016delinsGGGC (p.Gly4338=) c.13043_13046delinsGGGC (p.Gly4348=)
19	g.38565381G>A	CA507355840	RYR1	c.1457G>A c.1439G>A c.13047G>A (p.Gly4349=) c.13032G>A (p.Gly4344=) c.13029G>A (p.Gly4343=) c.13014G>A (p.Gly4338=) c.13044G>A (p.Gly4348=)	gnomAD v4
19	g.38565381G>C	CA507355839	RYR1	c.1457G>C c.1439G>C c.13047G>C (p.Gly4349=) c.13032G>C (p.Gly4344=) c.13029G>C (p.Gly4343=) c.13014G>C (p.Gly4338=) c.13044G>C (p.Gly4348=)
19	g.38565381G>T	CA507355837	RYR1	c.1457G>T c.1439G>T c.13047G>T (p.Gly4349=) c.13032G>T (p.Gly4344=) c.13029G>T (p.Gly4343=) c.13014G>T (p.Gly4338=) c.13044G>T (p.Gly4348=)	gnomAD v4
19	g.38565389_38565391dup	CA2335084847	RYR1	c.1465_1467dup c.1447_1449dup c.13055_13057dup (p.Ala4352_Gly4353insAla) c.13040_13042dup (p.Ala4347_Gly4348insAla) c.13037_13039dup (p.Ala4346_Gly4347insAla) c.13022_13024dup (p.Ala4341_Gly4342insAla) c.13052_13054dup (p.Ala4351_Gly4352insAla)	dbSNP
19	g.38565386_38565391dup	CA882058928	RYR1	c.1462_1467dup c.1444_1449dup c.13052_13057dup (p.Ala4352_Gly4353insAlaAla) c.13037_13042dup (p.Ala4347_Gly4348insAlaAla) c.13034_13039dup (p.Ala4346_Gly4347insAlaAla) c.13019_13024dup (p.Ala4341_Gly4342insAlaAla) c.13049_13054dup (p.Ala4351_Gly4352insAlaAla)	ClinVar dbSNP gnomAD v4
19	g.38565389_38565391del	CA507355838	RYR1	c.1465_1467del c.1447_1449del c.13055_13057del (p.Ala4352del) c.13040_13042del (p.Ala4347del) c.13037_13039del (p.Ala4346del) c.13022_13024del (p.Ala4341del) c.13052_13054del (p.Ala4351del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565382G>A	CA059552	RYR1	c.1458G>A c.1440G>A c.13048G>A (p.Ala4350Thr) c.13033G>A (p.Ala4345Thr) c.13030G>A (p.Ala4344Thr) c.13015G>A (p.Ala4339Thr) c.13045G>A (p.Ala4349Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565382G>C	CA405673225	RYR1	c.1458G>C c.1440G>C c.13048G>C (p.Ala4350Pro) c.13033G>C (p.Ala4345Pro) c.13030G>C (p.Ala4344Pro) c.13015G>C (p.Ala4339Pro) c.13045G>C (p.Ala4349Pro)
19	g.38565382G=	CA2335084848	RYR1	c.1458G= c.1440G= c.13048G= (p.Ala4350=) c.13033G= (p.Ala4345=) c.13030G= (p.Ala4344=) c.13015G= (p.Ala4339=) c.13045G= (p.Ala4349=)
19	g.38565382G>T	CA405673223	RYR1	c.1458G>T c.1440G>T c.13048G>T (p.Ala4350Ser) c.13033G>T (p.Ala4345Ser) c.13030G>T (p.Ala4344Ser) c.13015G>T (p.Ala4339Ser) c.13045G>T (p.Ala4349Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565385_38565396dup	CA2576772104	RYR1	c.1461_1472dup c.1443_1454dup c.13051_13062dup (p.Ala4354_Leu4355insAlaAlaGlyAla) c.13036_13047dup (p.Ala4349_Leu4350insAlaAlaGlyAla) c.13033_13044dup (p.Ala4348_Leu4349insAlaAlaGlyAla) c.13018_13029dup (p.Ala4343_Leu4344insAlaAlaGlyAla) c.13048_13059dup (p.Ala4353_Leu4354insAlaAlaGlyAla)	gnomAD v4
19	g.38565383del	CA2814346203	RYR1	c.1459del c.1441del c.13049del (p.Ala4350GlyfsTer25) c.13034del (p.Ala4345GlyfsTer25) c.13031del (p.Ala4344GlyfsTer25) c.13016del (p.Ala4339GlyfsTer25) c.13046del (p.Ala4349GlyfsTer25)
19	g.38565383C>A	CA405673226	RYR1	c.1459C>A c.1441C>A c.13049C>A (p.Ala4350Glu) c.13034C>A (p.Ala4345Glu) c.13031C>A (p.Ala4344Glu) c.13016C>A (p.Ala4339Glu) c.13046C>A (p.Ala4349Glu)	gnomAD v4
19	g.38565383C>G	CA405673229	RYR1	c.1459C>G c.1441C>G c.13049C>G (p.Ala4350Gly) c.13034C>G (p.Ala4345Gly) c.13031C>G (p.Ala4344Gly) c.13016C>G (p.Ala4339Gly) c.13046C>G (p.Ala4349Gly)	gnomAD v4
19	g.38565383C>T	CA405673231	RYR1	c.1459C>T c.1441C>T c.13049C>T (p.Ala4350Val) c.13034C>T (p.Ala4345Val) c.13031C>T (p.Ala4344Val) c.13016C>T (p.Ala4339Val) c.13046C>T (p.Ala4349Val)	gnomAD v4
19	g.38565392_38565431del	CA2584909146	RYR1	c.1468_1507del c.1450_1489del c.13058_13097del (p.Gly4353AlafsTer9) c.13043_13082del (p.Gly4348AlafsTer9) c.13040_13079del (p.Gly4347AlafsTer9) c.13025_13064del (p.Gly4342AlafsTer9) c.13055_13094del (p.Gly4352AlafsTer9)	gnomAD v4
19	g.38565384G>A	CA507355842	RYR1	c.1460G>A c.1442G>A c.13050G>A (p.Ala4350=) c.13035G>A (p.Ala4345=) c.13032G>A (p.Ala4344=) c.13017G>A (p.Ala4339=) c.13047G>A (p.Ala4349=)	ClinVar dbSNP gnomAD v4
19	g.38565384G>C	CA507355844	RYR1	c.1460G>C c.1442G>C c.13050G>C (p.Ala4350=) c.13035G>C (p.Ala4345=) c.13032G>C (p.Ala4344=) c.13017G>C (p.Ala4339=) c.13047G>C (p.Ala4349=)
19	g.38565384G>T	CA507355843	RYR1	c.1460G>T c.1442G>T c.13050G>T (p.Ala4350=) c.13035G>T (p.Ala4345=) c.13032G>T (p.Ala4344=) c.13017G>T (p.Ala4339=) c.13047G>T (p.Ala4349=)	gnomAD v4
19	g.38565385G>A	CA080780	RYR1	c.1461G>A c.1443G>A c.13051G>A (p.Ala4351Thr) c.13036G>A (p.Ala4346Thr) c.13033G>A (p.Ala4345Thr) c.13018G>A (p.Ala4340Thr) c.13048G>A (p.Ala4350Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565385G>C	CA405673236	RYR1	c.1461G>C c.1443G>C c.13051G>C (p.Ala4351Pro) c.13036G>C (p.Ala4346Pro) c.13033G>C (p.Ala4345Pro) c.13018G>C (p.Ala4340Pro) c.13048G>C (p.Ala4350Pro)
19	g.38565385G=	CA2335084849	RYR1	c.1461G= c.1443G= c.13051G= (p.Ala4351=) c.13036G= (p.Ala4346=) c.13033G= (p.Ala4345=) c.13018G= (p.Ala4340=) c.13048G= (p.Ala4350=)
19	g.38565385G>T	CA405673242	RYR1	c.1461G>T c.1443G>T c.13051G>T (p.Ala4351Ser) c.13036G>T (p.Ala4346Ser) c.13033G>T (p.Ala4345Ser) c.13018G>T (p.Ala4340Ser) c.13048G>T (p.Ala4350Ser)	gnomAD v4
19	g.38565386C>A	CA405673245	RYR1	c.1462C>A c.1444C>A c.13052C>A (p.Ala4351Glu) c.13037C>A (p.Ala4346Glu) c.13034C>A (p.Ala4345Glu) c.13019C>A (p.Ala4340Glu) c.13049C>A (p.Ala4350Glu)	dbSNP gnomAD v4
19	g.38565386C=	CA2335084850	RYR1	c.1462C= c.1444C= c.13052C= (p.Ala4351=) c.13037C= (p.Ala4346=) c.13034C= (p.Ala4345=) c.13019C= (p.Ala4340=) c.13049C= (p.Ala4350=)
19	g.38565386C>G	CA405673247	RYR1	c.1462C>G c.1444C>G c.13052C>G (p.Ala4351Gly) c.13037C>G (p.Ala4346Gly) c.13034C>G (p.Ala4345Gly) c.13019C>G (p.Ala4340Gly) c.13049C>G (p.Ala4350Gly)
19	g.38565386C>T	CA405673250	RYR1	c.1462C>T c.1444C>T c.13052C>T (p.Ala4351Val) c.13037C>T (p.Ala4346Val) c.13034C>T (p.Ala4345Val) c.13019C>T (p.Ala4340Val) c.13049C>T (p.Ala4350Val)	dbSNP gnomAD v2 gnomAD v4
19	g.38565387G>A	CA507355848	RYR1	c.1463G>A c.1445G>A c.13053G>A (p.Ala4351=) c.13038G>A (p.Ala4346=) c.13035G>A (p.Ala4345=) c.13020G>A (p.Ala4340=) c.13050G>A (p.Ala4350=)	gnomAD v4
19	g.38565387G>C	CA507355849	RYR1	c.1463G>C c.1445G>C c.13053G>C (p.Ala4351=) c.13038G>C (p.Ala4346=) c.13035G>C (p.Ala4345=) c.13020G>C (p.Ala4340=) c.13050G>C (p.Ala4350=)
19	g.38565387G>T	CA507355850	RYR1	c.1463G>T c.1445G>T c.13053G>T (p.Ala4351=) c.13038G>T (p.Ala4346=) c.13035G>T (p.Ala4345=) c.13020G>T (p.Ala4340=) c.13050G>T (p.Ala4350=)	gnomAD v4
19	g.38565388dup	CA2584909147	RYR1	c.1464dup c.1446dup c.13054dup (p.Ala4352GlyfsTer?) c.13039dup (p.Ala4347GlyfsTer?) c.13036dup (p.Ala4346GlyfsTer?) c.13021dup (p.Ala4341GlyfsTer?) c.13051dup (p.Ala4351GlyfsTer?)	gnomAD v4
19	g.38565388G>A	CA405673251	RYR1	c.1464G>A c.1446G>A c.13054G>A (p.Ala4352Thr) c.13039G>A (p.Ala4347Thr) c.13036G>A (p.Ala4346Thr) c.13021G>A (p.Ala4341Thr) c.13051G>A (p.Ala4351Thr)	dbSNP gnomAD v3 gnomAD v4
19	g.38565388G>C	CA405673253	RYR1	c.1464G>C c.1446G>C c.13054G>C (p.Ala4352Pro) c.13039G>C (p.Ala4347Pro) c.13036G>C (p.Ala4346Pro) c.13021G>C (p.Ala4341Pro) c.13051G>C (p.Ala4351Pro)	ClinVar dbSNP gnomAD v4
19	g.38565388G=	CA2335084851	RYR1	c.1464G= c.1446G= c.13054G= (p.Ala4352=) c.13039G= (p.Ala4347=) c.13036G= (p.Ala4346=) c.13021G= (p.Ala4341=) c.13051G= (p.Ala4351=)
19	g.38565388G>T	CA405673256	RYR1	c.1464G>T c.1446G>T c.13054G>T (p.Ala4352Ser) c.13039G>T (p.Ala4347Ser) c.13036G>T (p.Ala4346Ser) c.13021G>T (p.Ala4341Ser) c.13051G>T (p.Ala4351Ser)	dbSNP gnomAD v3 gnomAD v4
19	g.38565389C>A	CA405673264	RYR1	c.1465C>A c.1447C>A c.13055C>A (p.Ala4352Glu) c.13040C>A (p.Ala4347Glu) c.13037C>A (p.Ala4346Glu) c.13022C>A (p.Ala4341Glu) c.13052C>A (p.Ala4351Glu)	gnomAD v4
19	g.38565389C=	CA2335084853	RYR1	c.1465C= c.1447C= c.13055C= (p.Ala4352=) c.13040C= (p.Ala4347=) c.13037C= (p.Ala4346=) c.13022C= (p.Ala4341=) c.13052C= (p.Ala4351=)
19	g.38565389C>G	CA405673261	RYR1	c.1465C>G c.1447C>G c.13055C>G (p.Ala4352Gly) c.13040C>G (p.Ala4347Gly) c.13037C>G (p.Ala4346Gly) c.13022C>G (p.Ala4341Gly) c.13052C>G (p.Ala4351Gly)	gnomAD v4
19	g.38565389C>T	CA405673259	RYR1	c.1465C>T c.1447C>T c.13055C>T (p.Ala4352Val) c.13040C>T (p.Ala4347Val) c.13037C>T (p.Ala4346Val) c.13022C>T (p.Ala4341Val) c.13052C>T (p.Ala4351Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565389_38565390delinsCG	CA2335084852	RYR1	c.1465_1466delinsCG c.1447_1448delinsCG c.13055_13056delinsCG (p.Ala4352=) c.13040_13041delinsCG (p.Ala4347=) c.13037_13038delinsCG (p.Ala4346=) c.13022_13023delinsCG (p.Ala4341=) c.13052_13053delinsCG (p.Ala4351=)
19	g.38565390G>A	CA507355851	RYR1	c.1466G>A c.1448G>A c.13056G>A (p.Ala4352=) c.13041G>A (p.Ala4347=) c.13038G>A (p.Ala4346=) c.13023G>A (p.Ala4341=) c.13053G>A (p.Ala4351=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565390G>C	CA507355852	RYR1	c.1466G>C c.1448G>C c.13056G>C (p.Ala4352=) c.13041G>C (p.Ala4347=) c.13038G>C (p.Ala4346=) c.13023G>C (p.Ala4341=) c.13053G>C (p.Ala4351=)
19	g.38565390G=	CA2335084854	RYR1	c.1466G= c.1448G= c.13056G= (p.Ala4352=) c.13041G= (p.Ala4347=) c.13038G= (p.Ala4346=) c.13023G= (p.Ala4341=) c.13053G= (p.Ala4351=)
19	g.38565390G>T	CA507355853	RYR1	c.1466G>T c.1448G>T c.13056G>T (p.Ala4352=) c.13041G>T (p.Ala4347=) c.13038G>T (p.Ala4346=) c.13023G>T (p.Ala4341=) c.13053G>T (p.Ala4351=)	gnomAD v4
19	g.38565392del	CA882058936	RYR1	c.1468del c.1450del c.13058del (p.Gly4353AlafsTer22) c.13043del (p.Gly4348AlafsTer22) c.13040del (p.Gly4347AlafsTer22) c.13025del (p.Gly4342AlafsTer22) c.13055del (p.Gly4352AlafsTer22)	ClinVar dbSNP gnomAD v4
19	g.38565391G>A	CA405673266	RYR1	c.1467G>A c.1449G>A c.13057G>A (p.Gly4353Ser) c.13042G>A (p.Gly4348Ser) c.13039G>A (p.Gly4347Ser) c.13024G>A (p.Gly4342Ser) c.13054G>A (p.Gly4352Ser)	gnomAD v4
19	g.38565391G>C	CA405673268	RYR1	c.1467G>C c.1449G>C c.13057G>C (p.Gly4353Arg) c.13042G>C (p.Gly4348Arg) c.13039G>C (p.Gly4347Arg) c.13024G>C (p.Gly4342Arg) c.13054G>C (p.Gly4352Arg)
19	g.38565391G>T	CA405673271	RYR1	c.1467G>T c.1449G>T c.13057G>T (p.Gly4353Cys) c.13042G>T (p.Gly4348Cys) c.13039G>T (p.Gly4347Cys) c.13024G>T (p.Gly4342Cys) c.13054G>T (p.Gly4352Cys)	gnomAD v4
19	g.38565392G>A	CA308109483	RYR1	c.1468G>A c.1450G>A c.13058G>A (p.Gly4353Asp) c.13043G>A (p.Gly4348Asp) c.13040G>A (p.Gly4347Asp) c.13025G>A (p.Gly4342Asp) c.13055G>A (p.Gly4352Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565392G>C	CA405673273	RYR1	c.1468G>C c.1450G>C c.13058G>C (p.Gly4353Ala) c.13043G>C (p.Gly4348Ala) c.13040G>C (p.Gly4347Ala) c.13025G>C (p.Gly4342Ala) c.13055G>C (p.Gly4352Ala)	gnomAD v4
19	g.38565392G=	CA2335084855	RYR1	c.1468G= c.1450G= c.13058G= (p.Gly4353=) c.13043G= (p.Gly4348=) c.13040G= (p.Gly4347=) c.13025G= (p.Gly4342=) c.13055G= (p.Gly4352=)
19	g.38565392G>T	CA405673276	RYR1	c.1468G>T c.1450G>T c.13058G>T (p.Gly4353Val) c.13043G>T (p.Gly4348Val) c.13040G>T (p.Gly4347Val) c.13025G>T (p.Gly4342Val) c.13055G>T (p.Gly4352Val)	dbSNP gnomAD v4
19	g.38565393C>A	CA507355857	RYR1	c.1469C>A c.1451C>A c.13059C>A (p.Gly4353=) c.13044C>A (p.Gly4348=) c.13041C>A (p.Gly4347=) c.13026C>A (p.Gly4342=) c.13056C>A (p.Gly4352=)	gnomAD v4
19	g.38565393C=	CA2335084856	RYR1	c.1469C= c.1451C= c.13059C= (p.Gly4353=) c.13044C= (p.Gly4348=) c.13041C= (p.Gly4347=) c.13026C= (p.Gly4342=) c.13056C= (p.Gly4352=)
19	g.38565393C>G	CA308109484	RYR1	c.1469C>G c.1451C>G c.13059C>G (p.Gly4353=) c.13044C>G (p.Gly4348=) c.13041C>G (p.Gly4347=) c.13026C>G (p.Gly4342=) c.13056C>G (p.Gly4352=)	dbSNP
19	g.38565393C>T	CA507355858	RYR1	c.1469C>T c.1451C>T c.13059C>T (p.Gly4353=) c.13044C>T (p.Gly4348=) c.13041C>T (p.Gly4347=) c.13026C>T (p.Gly4342=) c.13056C>T (p.Gly4352=)	gnomAD v4
19	g.38565394G>A	CA405673279	RYR1	c.1470G>A c.1452G>A c.13060G>A (p.Ala4354Thr) c.13045G>A (p.Ala4349Thr) c.13042G>A (p.Ala4348Thr) c.13027G>A (p.Ala4343Thr) c.13057G>A (p.Ala4353Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565394G>C	CA405673281	RYR1	c.1470G>C c.1452G>C c.13060G>C (p.Ala4354Pro) c.13045G>C (p.Ala4349Pro) c.13042G>C (p.Ala4348Pro) c.13027G>C (p.Ala4343Pro) c.13057G>C (p.Ala4353Pro)
19	g.38565394G=	CA2335084857	RYR1	c.1470G= c.1452G= c.13060G= (p.Ala4354=) c.13045G= (p.Ala4349=) c.13042G= (p.Ala4348=) c.13027G= (p.Ala4343=) c.13057G= (p.Ala4353=)
19	g.38565394G>T	CA405673284	RYR1	c.1470G>T c.1452G>T c.13060G>T (p.Ala4354Ser) c.13045G>T (p.Ala4349Ser) c.13042G>T (p.Ala4348Ser) c.13027G>T (p.Ala4343Ser) c.13057G>T (p.Ala4353Ser)	dbSNP gnomAD v4
19	g.38565395C>A	CA405673286	RYR1	c.1471C>A c.1453C>A c.13061C>A (p.Ala4354Glu) c.13046C>A (p.Ala4349Glu) c.13043C>A (p.Ala4348Glu) c.13028C>A (p.Ala4343Glu) c.13058C>A (p.Ala4353Glu)	gnomAD v4
19	g.38565395C>G	CA405673288	RYR1	c.1471C>G c.1453C>G c.13061C>G (p.Ala4354Gly) c.13046C>G (p.Ala4349Gly) c.13043C>G (p.Ala4348Gly) c.13028C>G (p.Ala4343Gly) c.13058C>G (p.Ala4353Gly)
19	g.38565395C>T	CA405673291	RYR1	c.1471C>T c.1453C>T c.13061C>T (p.Ala4354Val) c.13046C>T (p.Ala4349Val) c.13043C>T (p.Ala4348Val) c.13028C>T (p.Ala4343Val) c.13058C>T (p.Ala4353Val)	gnomAD v4
19	g.38565396G>A	CA507355860	RYR1	c.1472G>A c.1454G>A c.13062G>A (p.Ala4354=) c.13047G>A (p.Ala4349=) c.13044G>A (p.Ala4348=) c.13029G>A (p.Ala4343=) c.13059G>A (p.Ala4353=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565396G>C	CA507355862	RYR1	c.1472G>C c.1454G>C c.13062G>C (p.Ala4354=) c.13047G>C (p.Ala4349=) c.13044G>C (p.Ala4348=) c.13029G>C (p.Ala4343=) c.13059G>C (p.Ala4353=)
19	g.38565396G=	CA2335084858	RYR1	c.1472G= c.1454G= c.13062G= (p.Ala4354=) c.13047G= (p.Ala4349=) c.13044G= (p.Ala4348=) c.13029G= (p.Ala4343=) c.13059G= (p.Ala4353=)
19	g.38565396G>T	CA507355863	RYR1	c.1472G>T c.1454G>T c.13062G>T (p.Ala4354=) c.13047G>T (p.Ala4349=) c.13044G>T (p.Ala4348=) c.13029G>T (p.Ala4343=) c.13059G>T (p.Ala4353=)	ClinVar dbSNP gnomAD v4
19	g.38565396_38565407delinsGCTGGGCCTGCT	CA2335084859	RYR1	c.1472_1483delinsGCTGGGCCTGCT c.1454_1465delinsGCTGGGCCTGCT c.13062_13073delinsGCTGGGCCTGCT (p.Ala4354=) c.13047_13058delinsGCTGGGCCTGCT (p.Ala4349=) c.13044_13055delinsGCTGGGCCTGCT (p.Ala4348=) c.13029_13040delinsGCTGGGCCTGCT (p.Ala4343=) c.13059_13070delinsGCTGGGCCTGCT (p.Ala4353=)
19	g.38565397C>A	CA405673297	RYR1	c.1473C>A c.1455C>A c.13063C>A (p.Leu4355Met) c.13048C>A (p.Leu4350Met) c.13045C>A (p.Leu4349Met) c.13030C>A (p.Leu4344Met) c.13060C>A (p.Leu4354Met)	gnomAD v4
19	g.38565397C=	CA2335084860	RYR1	c.1473C= c.1455C= c.13063C= (p.Leu4355=) c.13048C= (p.Leu4350=) c.13045C= (p.Leu4349=) c.13030C= (p.Leu4344=) c.13060C= (p.Leu4354=)
19	g.38565397C>G	CA405673294	RYR1	c.1473C>G c.1455C>G c.13063C>G (p.Leu4355Val) c.13048C>G (p.Leu4350Val) c.13045C>G (p.Leu4349Val) c.13030C>G (p.Leu4344Val) c.13060C>G (p.Leu4354Val)
19	g.38565397C>T	CA507355865	RYR1	c.1473C>T c.1455C>T c.13063C>T (p.Leu4355=) c.13048C>T (p.Leu4350=) c.13045C>T (p.Leu4349=) c.13030C>T (p.Leu4344=) c.13060C>T (p.Leu4354=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565402_38565412del	CA1139666438	RYR1	c.1478_1488del c.1460_1470del c.13068_13078del (p.Leu4358AlafsTer?) c.13053_13063del (p.Leu4353AlafsTer?) c.13050_13060del (p.Leu4352AlafsTer?) c.13035_13045del (p.Leu4347AlafsTer?) c.13065_13075del (p.Leu4357AlafsTer?)	ClinVar dbSNP
19	g.38565398T>A	CA405673299	RYR1	c.1474T>A c.1456T>A c.13064T>A (p.Leu4355Gln) c.13049T>A (p.Leu4350Gln) c.13046T>A (p.Leu4349Gln) c.13031T>A (p.Leu4344Gln) c.13061T>A (p.Leu4354Gln)
19	g.38565398T>C	CA405673303	RYR1	c.1474T>C c.1456T>C c.13064T>C (p.Leu4355Pro) c.13049T>C (p.Leu4350Pro) c.13046T>C (p.Leu4349Pro) c.13031T>C (p.Leu4344Pro) c.13061T>C (p.Leu4354Pro)	ClinVar dbSNP gnomAD v4
19	g.38565398T>G	CA405673300	RYR1	c.1474T>G c.1456T>G c.13064T>G (p.Leu4355Arg) c.13049T>G (p.Leu4350Arg) c.13046T>G (p.Leu4349Arg) c.13031T>G (p.Leu4344Arg) c.13061T>G (p.Leu4354Arg)
19	g.38565399G>A	CA507355866	RYR1	c.1G>A c.1475G>A c.1457G>A c.13065G>A (p.Leu4355=) c.13050G>A (p.Leu4350=) c.13047G>A (p.Leu4349=) c.13032G>A (p.Leu4344=) c.13062G>A (p.Leu4354=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565399G>C	CA507355868	RYR1	c.1G>C c.1475G>C c.1457G>C c.13065G>C (p.Leu4355=) c.13050G>C (p.Leu4350=) c.13047G>C (p.Leu4349=) c.13032G>C (p.Leu4344=) c.13062G>C (p.Leu4354=)	gnomAD v4
19	g.38565399G=	CA2335084861	RYR1	c.1G= c.1475G= c.1457G= c.13065G= (p.Leu4355=) c.13050G= (p.Leu4350=) c.13047G= (p.Leu4349=) c.13032G= (p.Leu4344=) c.13062G= (p.Leu4354=)
19	g.38565399G>T	CA507355867	RYR1	c.1G>T c.1475G>T c.1457G>T c.13065G>T (p.Leu4355=) c.13050G>T (p.Leu4350=) c.13047G>T (p.Leu4349=) c.13032G>T (p.Leu4344=) c.13062G>T (p.Leu4354=)	gnomAD v4
19	g.38565401del	CA2584909148	RYR1	c.3del c.1477del c.1459del c.13067del (p.Gly4356AlafsTer19) c.13052del (p.Gly4351AlafsTer19) c.13049del (p.Gly4350AlafsTer19) c.13034del (p.Gly4345AlafsTer19) c.13064del (p.Gly4355AlafsTer19)	gnomAD v4
19	g.38565400G>A	CA405673306	RYR1	c.2G>A c.1476G>A c.1458G>A c.13066G>A (p.Gly4356Ser) c.13051G>A (p.Gly4351Ser) c.13048G>A (p.Gly4350Ser) c.13033G>A (p.Gly4345Ser) c.13063G>A (p.Gly4355Ser)	gnomAD v4
19	g.38565400G>C	CA405673309	RYR1	c.2G>C c.1476G>C c.1458G>C c.13066G>C (p.Gly4356Arg) c.13051G>C (p.Gly4351Arg) c.13048G>C (p.Gly4350Arg) c.13033G>C (p.Gly4345Arg) c.13063G>C (p.Gly4355Arg)
19	g.38565400G=	CA2335084862	RYR1	c.2G= c.1476G= c.1458G= c.13066G= (p.Gly4356=) c.13051G= (p.Gly4351=) c.13048G= (p.Gly4350=) c.13033G= (p.Gly4345=) c.13063G= (p.Gly4355=)
19	g.38565400G>T	CA405673311	RYR1	c.2G>T c.1476G>T c.1458G>T c.13066G>T (p.Gly4356Cys) c.13051G>T (p.Gly4351Cys) c.13048G>T (p.Gly4350Cys) c.13033G>T (p.Gly4345Cys) c.13063G>T (p.Gly4355Cys)	ClinVar dbSNP gnomAD v4
19	g.38565401G>A	CA405673315	RYR1	c.3G>A c.1477G>A c.1459G>A c.13067G>A (p.Gly4356Asp) c.13052G>A (p.Gly4351Asp) c.13049G>A (p.Gly4350Asp) c.13034G>A (p.Gly4345Asp) c.13064G>A (p.Gly4355Asp)	dbSNP gnomAD v2 gnomAD v4
19	g.38565401G>C	CA405673316	RYR1	c.3G>C c.1477G>C c.1459G>C c.13067G>C (p.Gly4356Ala) c.13052G>C (p.Gly4351Ala) c.13049G>C (p.Gly4350Ala) c.13034G>C (p.Gly4345Ala) c.13064G>C (p.Gly4355Ala)
19	g.38565401G=	CA2335084863	RYR1	c.3G= c.1477G= c.1459G= c.13067G= (p.Gly4356=) c.13052G= (p.Gly4351=) c.13049G= (p.Gly4350=) c.13034G= (p.Gly4345=) c.13064G= (p.Gly4355=)
19	g.38565401G>T	CA405673318	RYR1	c.3G>T c.1477G>T c.1459G>T c.13067G>T (p.Gly4356Val) c.13052G>T (p.Gly4351Val) c.13049G>T (p.Gly4350Val) c.13034G>T (p.Gly4345Val) c.13064G>T (p.Gly4355Val)	gnomAD v4
19	g.38565402C>A	CA507355870	RYR1	c.4C>A c.1478C>A c.1460C>A c.13068C>A (p.Gly4356=) c.13053C>A (p.Gly4351=) c.13050C>A (p.Gly4350=) c.13035C>A (p.Gly4345=) c.13065C>A (p.Gly4355=)	gnomAD v4
19	g.38565402C=	CA2335084864	RYR1	c.4C= c.1478C= c.1460C= c.13068C= (p.Gly4356=) c.13053C= (p.Gly4351=) c.13050C= (p.Gly4350=) c.13035C= (p.Gly4345=) c.13065C= (p.Gly4355=)
19	g.38565402C>G	CA507355871	RYR1	c.4C>G c.1478C>G c.1460C>G c.13068C>G (p.Gly4356=) c.13053C>G (p.Gly4351=) c.13050C>G (p.Gly4350=) c.13035C>G (p.Gly4345=) c.13065C>G (p.Gly4355=)
19	g.38565402C>T	CA507355872	RYR1	c.4C>T c.1478C>T c.1460C>T c.13068C>T (p.Gly4356=) c.13053C>T (p.Gly4351=) c.13050C>T (p.Gly4350=) c.13035C>T (p.Gly4345=) c.13065C>T (p.Gly4355=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565403C>A	CA405673327	RYR1	c.5C>A c.1479C>A c.1461C>A c.13069C>A (p.Leu4357Met) c.13054C>A (p.Leu4352Met) c.13051C>A (p.Leu4351Met) c.13036C>A (p.Leu4346Met) c.13066C>A (p.Leu4356Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565403C=	CA2335084865	RYR1	c.5C= c.1479C= c.1461C= c.13069C= (p.Leu4357=) c.13054C= (p.Leu4352=) c.13051C= (p.Leu4351=) c.13036C= (p.Leu4346=) c.13066C= (p.Leu4356=)
19	g.38565403C>G	CA405673329	RYR1	c.5C>G c.1479C>G c.1461C>G c.13069C>G (p.Leu4357Val) c.13054C>G (p.Leu4352Val) c.13051C>G (p.Leu4351Val) c.13036C>G (p.Leu4346Val) c.13066C>G (p.Leu4356Val)	gnomAD v4
19	g.38565403C>T	CA507355873	RYR1	c.5C>T c.1479C>T c.1461C>T c.13069C>T (p.Leu4357=) c.13054C>T (p.Leu4352=) c.13051C>T (p.Leu4351=) c.13036C>T (p.Leu4346=) c.13066C>T (p.Leu4356=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565404T>A	CA405673340	RYR1	c.6T>A c.1480T>A c.1462T>A c.13070T>A (p.Leu4357Gln) c.13055T>A (p.Leu4352Gln) c.13052T>A (p.Leu4351Gln) c.13037T>A (p.Leu4346Gln) c.13067T>A (p.Leu4356Gln)
19	g.38565404T>C	CA405673342	RYR1	c.6T>C c.1480T>C c.1462T>C c.13070T>C (p.Leu4357Pro) c.13055T>C (p.Leu4352Pro) c.13052T>C (p.Leu4351Pro) c.13037T>C (p.Leu4346Pro) c.13067T>C (p.Leu4356Pro)	gnomAD v4
19	g.38565404T>G	CA405673346	RYR1	c.6T>G c.1480T>G c.1462T>G c.13070T>G (p.Leu4357Arg) c.13055T>G (p.Leu4352Arg) c.13052T>G (p.Leu4351Arg) c.13037T>G (p.Leu4346Arg) c.13067T>G (p.Leu4356Arg)	gnomAD v4
19	g.38565405G>A	CA507355876	RYR1	c.7G>A c.1481G>A c.1463G>A c.13071G>A (p.Leu4357=) c.13056G>A (p.Leu4352=) c.13053G>A (p.Leu4351=) c.13038G>A (p.Leu4346=) c.13068G>A (p.Leu4356=)	gnomAD v4
19	g.38565405G>C	CA507355879	RYR1	c.7G>C c.1481G>C c.1463G>C c.13071G>C (p.Leu4357=) c.13056G>C (p.Leu4352=) c.13053G>C (p.Leu4351=) c.13038G>C (p.Leu4346=) c.13068G>C (p.Leu4356=)	ClinVar dbSNP
19	g.38565405G>T	CA507355877	RYR1	c.7G>T c.1481G>T c.1463G>T c.13071G>T (p.Leu4357=) c.13056G>T (p.Leu4352=) c.13053G>T (p.Leu4351=) c.13038G>T (p.Leu4346=) c.13068G>T (p.Leu4356=)	gnomAD v4
19	g.38565406C>A	CA405673354	RYR1	c.8C>A c.1482C>A c.1464C>A c.13072C>A (p.Leu4358Ile) c.13057C>A (p.Leu4353Ile) c.13054C>A (p.Leu4352Ile) c.13039C>A (p.Leu4347Ile) c.13069C>A (p.Leu4357Ile)	gnomAD v4
19	g.38565406C>G	CA405673351	RYR1	c.8C>G c.1482C>G c.1464C>G c.13072C>G (p.Leu4358Val) c.13057C>G (p.Leu4353Val) c.13054C>G (p.Leu4352Val) c.13039C>G (p.Leu4347Val) c.13069C>G (p.Leu4357Val)
19	g.38565406C>T	CA405673348	RYR1	c.8C>T c.1482C>T c.1464C>T c.13072C>T (p.Leu4358Phe) c.13057C>T (p.Leu4353Phe) c.13054C>T (p.Leu4352Phe) c.13039C>T (p.Leu4347Phe) c.13069C>T (p.Leu4357Phe)	gnomAD v4
19	g.38565407T>A	CA405673356	RYR1	c.9T>A c.1483T>A c.1465T>A c.13073T>A (p.Leu4358His) c.13058T>A (p.Leu4353His) c.13055T>A (p.Leu4352His) c.13040T>A (p.Leu4347His) c.13070T>A (p.Leu4357His)
19	g.38565407T>C	CA405673357	RYR1	c.9T>C c.1483T>C c.1465T>C c.13073T>C (p.Leu4358Pro) c.13058T>C (p.Leu4353Pro) c.13055T>C (p.Leu4352Pro) c.13040T>C (p.Leu4347Pro) c.13070T>C (p.Leu4357Pro)	gnomAD v4
19	g.38565407T>G	CA405673359	RYR1	c.9T>G c.1483T>G c.1465T>G c.13073T>G (p.Leu4358Arg) c.13058T>G (p.Leu4353Arg) c.13055T>G (p.Leu4352Arg) c.13040T>G (p.Leu4347Arg) c.13070T>G (p.Leu4357Arg)
19	g.38565408C>A	CA507355880	RYR1	c.10C>A c.1484C>A c.1466C>A c.13074C>A (p.Leu4358=) c.13059C>A (p.Leu4353=) c.13056C>A (p.Leu4352=) c.13041C>A (p.Leu4347=) c.13071C>A (p.Leu4357=)	gnomAD v4
19	g.38565408C=	CA2335084866	RYR1	c.10C= c.1484C= c.1466C= c.13074C= (p.Leu4358=) c.13059C= (p.Leu4353=) c.13056C= (p.Leu4352=) c.13041C= (p.Leu4347=) c.13071C= (p.Leu4357=)
19	g.38565408C>G	CA507355881	RYR1	c.10C>G c.1484C>G c.1466C>G c.13074C>G (p.Leu4358=) c.13059C>G (p.Leu4353=) c.13056C>G (p.Leu4352=) c.13041C>G (p.Leu4347=) c.13071C>G (p.Leu4357=)	dbSNP
19	g.38565408C>T	CA507355882	RYR1	c.10C>T c.1484C>T c.1466C>T c.13074C>T (p.Leu4358=) c.13059C>T (p.Leu4353=) c.13056C>T (p.Leu4352=) c.13041C>T (p.Leu4347=) c.13071C>T (p.Leu4357=)	ClinVar gnomAD v4
19	g.38565409T>A	CA405673363	RYR1	c.11T>A c.1485T>A c.1467T>A c.13075T>A (p.Trp4359Arg) c.13060T>A (p.Trp4354Arg) c.13057T>A (p.Trp4353Arg) c.13042T>A (p.Trp4348Arg) c.13072T>A (p.Trp4358Arg)
19	g.38565409T>C	CA405673365	RYR1	c.11T>C c.1485T>C c.1467T>C c.13075T>C (p.Trp4359Arg) c.13060T>C (p.Trp4354Arg) c.13057T>C (p.Trp4353Arg) c.13042T>C (p.Trp4348Arg) c.13072T>C (p.Trp4358Arg)
19	g.38565409T>G	CA405673367	RYR1	c.11T>G c.1485T>G c.1467T>G c.13075T>G (p.Trp4359Gly) c.13060T>G (p.Trp4354Gly) c.13057T>G (p.Trp4353Gly) c.13042T>G (p.Trp4348Gly) c.13072T>G (p.Trp4358Gly)	gnomAD v4
19	g.38565410G>A	CA405673372	RYR1	c.12G>A c.1486G>A c.1468G>A c.13076G>A (p.Trp4359Ter) c.13061G>A (p.Trp4354Ter) c.13058G>A (p.Trp4353Ter) c.13043G>A (p.Trp4348Ter) c.13073G>A (p.Trp4358Ter)	gnomAD v4
19	g.38565410G>C	CA405673373	RYR1	c.12G>C c.1486G>C c.1468G>C c.13076G>C (p.Trp4359Ser) c.13061G>C (p.Trp4354Ser) c.13058G>C (p.Trp4353Ser) c.13043G>C (p.Trp4348Ser) c.13073G>C (p.Trp4358Ser)
19	g.38565410G>T	CA405673375	RYR1	c.12G>T c.1486G>T c.1468G>T c.13076G>T (p.Trp4359Leu) c.13061G>T (p.Trp4354Leu) c.13058G>T (p.Trp4353Leu) c.13043G>T (p.Trp4348Leu) c.13073G>T (p.Trp4358Leu)	gnomAD v4
19	g.38565411G>A	CA405673376	RYR1	c.13G>A c.1487G>A c.1469G>A c.13077G>A (p.Trp4359Ter) c.13062G>A (p.Trp4354Ter) c.13059G>A (p.Trp4353Ter) c.13044G>A (p.Trp4348Ter) c.13074G>A (p.Trp4358Ter)	gnomAD v4
19	g.38565411G>C	CA405673378	RYR1	c.13G>C c.1487G>C c.1469G>C c.13077G>C (p.Trp4359Cys) c.13062G>C (p.Trp4354Cys) c.13059G>C (p.Trp4353Cys) c.13044G>C (p.Trp4348Cys) c.13074G>C (p.Trp4358Cys)
19	g.38565411G>T	CA405673380	RYR1	c.13G>T c.1487G>T c.1469G>T c.13077G>T (p.Trp4359Cys) c.13062G>T (p.Trp4354Cys) c.13059G>T (p.Trp4353Cys) c.13044G>T (p.Trp4348Cys) c.13074G>T (p.Trp4358Cys)	gnomAD v4
19	g.38565412G>A	CA405673383	RYR1	c.14G>A c.1488G>A c.1470G>A c.13078G>A (p.Gly4360Ser) c.13063G>A (p.Gly4355Ser) c.13060G>A (p.Gly4354Ser) c.13045G>A (p.Gly4349Ser) c.13075G>A (p.Gly4359Ser)
19	g.38565412G>C	CA405673382	RYR1	c.14G>C c.1488G>C c.1470G>C c.13078G>C (p.Gly4360Arg) c.13063G>C (p.Gly4355Arg) c.13060G>C (p.Gly4354Arg) c.13045G>C (p.Gly4349Arg) c.13075G>C (p.Gly4359Arg)
19	g.38565412G>T	CA405673381	RYR1	c.14G>T c.1488G>T c.1470G>T c.13078G>T (p.Gly4360Cys) c.13063G>T (p.Gly4355Cys) c.13060G>T (p.Gly4354Cys) c.13045G>T (p.Gly4349Cys) c.13075G>T (p.Gly4359Cys)	dbSNP gnomAD v3 gnomAD v4
19	g.38565413G>A	CA405673388	RYR1	c.15G>A c.1489G>A c.1471G>A c.13079G>A (p.Gly4360Asp) c.13064G>A (p.Gly4355Asp) c.13061G>A (p.Gly4354Asp) c.13046G>A (p.Gly4349Asp) c.13076G>A (p.Gly4359Asp)	gnomAD v4
19	g.38565413G>C	CA405673385	RYR1	c.15G>C c.1489G>C c.1471G>C c.13079G>C (p.Gly4360Ala) c.13064G>C (p.Gly4355Ala) c.13061G>C (p.Gly4354Ala) c.13046G>C (p.Gly4349Ala) c.13076G>C (p.Gly4359Ala)	dbSNP gnomAD v2 gnomAD v4
19	g.38565413G=	CA2335084867	RYR1	c.15G= c.1489G= c.1471G= c.13079G= (p.Gly4360=) c.13064G= (p.Gly4355=) c.13061G= (p.Gly4354=) c.13046G= (p.Gly4349=) c.13076G= (p.Gly4359=)
19	g.38565413G>T	CA405673386	RYR1	c.15G>T c.1489G>T c.1471G>T c.13079G>T (p.Gly4360Val) c.13064G>T (p.Gly4355Val) c.13061G>T (p.Gly4354Val) c.13046G>T (p.Gly4349Val) c.13076G>T (p.Gly4359Val)	dbSNP gnomAD v4
19	g.38565414C>A	CA507355889	RYR1	c.16C>A c.1490C>A c.1472C>A c.13080C>A (p.Gly4360=) c.13065C>A (p.Gly4355=) c.13062C>A (p.Gly4354=) c.13047C>A (p.Gly4349=) c.13077C>A (p.Gly4359=)	gnomAD v4
19	g.38565414C>G	CA507355886	RYR1	c.16C>G c.1490C>G c.1472C>G c.13080C>G (p.Gly4360=) c.13065C>G (p.Gly4355=) c.13062C>G (p.Gly4354=) c.13047C>G (p.Gly4349=) c.13077C>G (p.Gly4359=)
19	g.38565414C>T	CA507355888	RYR1	c.16C>T c.1490C>T c.1472C>T c.13080C>T (p.Gly4360=) c.13065C>T (p.Gly4355=) c.13062C>T (p.Gly4354=) c.13047C>T (p.Gly4349=) c.13077C>T (p.Gly4359=)	ClinVar gnomAD v4
19	g.38565415T>A	CA059555	RYR1	c.17T>A c.1491T>A c.1473T>A c.13081T>A (p.Ser4361Thr) c.13066T>A (p.Ser4356Thr) c.13063T>A (p.Ser4355Thr) c.13048T>A (p.Ser4350Thr) c.13078T>A (p.Ser4360Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565415T>C	CA405673390	RYR1	c.17T>C c.1491T>C c.1473T>C c.13081T>C (p.Ser4361Pro) c.13066T>C (p.Ser4356Pro) c.13063T>C (p.Ser4355Pro) c.13048T>C (p.Ser4350Pro) c.13078T>C (p.Ser4360Pro)	gnomAD v4
19	g.38565415T>G	CA405673392	RYR1	c.17T>G c.1491T>G c.1473T>G c.13081T>G (p.Ser4361Ala) c.13066T>G (p.Ser4356Ala) c.13063T>G (p.Ser4355Ala) c.13048T>G (p.Ser4350Ala) c.13078T>G (p.Ser4360Ala)
19	g.38565415T=	CA2335084868	RYR1	c.17T= c.1491T= c.1473T= c.13081T= (p.Ser4361=) c.13066T= (p.Ser4356=) c.13063T= (p.Ser4355=) c.13048T= (p.Ser4350=) c.13078T= (p.Ser4360=)
19	g.38565416del	CA2814346223	RYR1	c.18del c.1492del c.1474del c.13082del (p.Ser4361CysfsTer14) c.13067del (p.Ser4356CysfsTer14) c.13064del (p.Ser4355CysfsTer14) c.13049del (p.Ser4350CysfsTer14) c.13079del (p.Ser4360CysfsTer14)
19	g.38565416C>A	CA405673393	RYR1	c.18C>A c.1492C>A c.1474C>A c.13082C>A (p.Ser4361Ter) c.13067C>A (p.Ser4356Ter) c.13064C>A (p.Ser4355Ter) c.13049C>A (p.Ser4350Ter) c.13079C>A (p.Ser4360Ter)	gnomAD v4
19	g.38565416C=	CA2335084869	RYR1	c.18C= c.1492C= c.1474C= c.13082C= (p.Ser4361=) c.13067C= (p.Ser4356=) c.13064C= (p.Ser4355=) c.13049C= (p.Ser4350=) c.13079C= (p.Ser4360=)
19	g.38565416C>G	CA405673394	RYR1	c.18C>G c.1492C>G c.1474C>G c.13082C>G (p.Ser4361Trp) c.13067C>G (p.Ser4356Trp) c.13064C>G (p.Ser4355Trp) c.13049C>G (p.Ser4350Trp) c.13079C>G (p.Ser4360Trp)
19	g.38565416C>T	CA405673395	RYR1	c.18C>T c.1492C>T c.1474C>T c.13082C>T (p.Ser4361Leu) c.13067C>T (p.Ser4356Leu) c.13064C>T (p.Ser4355Leu) c.13049C>T (p.Ser4350Leu) c.13079C>T (p.Ser4360Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565417G>A	CA507355890	RYR1	c.19G>A c.1493G>A c.1475G>A c.13083G>A (p.Ser4361=) c.13068G>A (p.Ser4356=) c.13065G>A (p.Ser4355=) c.13050G>A (p.Ser4350=) c.13080G>A (p.Ser4360=)	ClinVar gnomAD v4
19	g.38565417G>C	CA507355891	RYR1	c.19G>C c.1493G>C c.1475G>C c.13083G>C (p.Ser4361=) c.13068G>C (p.Ser4356=) c.13065G>C (p.Ser4355=) c.13050G>C (p.Ser4350=) c.13080G>C (p.Ser4360=)	gnomAD v4
19	g.38565417G>T	CA507355892	RYR1	c.19G>T c.1493G>T c.1475G>T c.13083G>T (p.Ser4361=) c.13068G>T (p.Ser4356=) c.13065G>T (p.Ser4355=) c.13050G>T (p.Ser4350=) c.13080G>T (p.Ser4360=)	gnomAD v4
19	g.38565418C>A	CA405673396	RYR1	c.20C>A c.1494C>A c.1476C>A c.13084C>A (p.Leu4362Met) c.13069C>A (p.Leu4357Met) c.13066C>A (p.Leu4356Met) c.13051C>A (p.Leu4351Met) c.13081C>A (p.Leu4361Met)	gnomAD v4
19	g.38565418C=	CA2335084870	RYR1	c.20C= c.1494C= c.1476C= c.13084C= (p.Leu4362=) c.13069C= (p.Leu4357=) c.13066C= (p.Leu4356=) c.13051C= (p.Leu4351=) c.13081C= (p.Leu4361=)
19	g.38565418C>G	CA405673397	RYR1	c.20C>G c.1494C>G c.1476C>G c.13084C>G (p.Leu4362Val) c.13069C>G (p.Leu4357Val) c.13066C>G (p.Leu4356Val) c.13051C>G (p.Leu4351Val) c.13081C>G (p.Leu4361Val)	gnomAD v4
19	g.38565418C>T	CA507355893	RYR1	c.20C>T c.1494C>T c.1476C>T c.13084C>T (p.Leu4362=) c.13069C>T (p.Leu4357=) c.13066C>T (p.Leu4356=) c.13051C>T (p.Leu4351=) c.13081C>T (p.Leu4361=)	dbSNP gnomAD v4
19	g.38565421_38565435del	CA2576772105	RYR1	c.23_37del c.1497_1511del c.1479_1493del c.13087_13101del (p.Phe4363_Leu4367del) c.13072_13086del (p.Phe4358_Leu4362del) c.13069_13083del (p.Phe4357_Leu4361del) c.13054_13068del (p.Phe4352_Leu4356del) c.13084_13098del (p.Phe4362_Leu4366del)
19	g.38565419T>A	CA405673400	RYR1	c.21T>A c.1495T>A c.1477T>A c.13085T>A (p.Leu4362Gln) c.13070T>A (p.Leu4357Gln) c.13067T>A (p.Leu4356Gln) c.13052T>A (p.Leu4351Gln) c.13082T>A (p.Leu4361Gln)
19	g.38565419T>C	CA405673402	RYR1	c.21T>C c.1495T>C c.1477T>C c.13085T>C (p.Leu4362Pro) c.13070T>C (p.Leu4357Pro) c.13067T>C (p.Leu4356Pro) c.13052T>C (p.Leu4351Pro) c.13082T>C (p.Leu4361Pro)	gnomAD v4
19	g.38565419T>G	CA405673403	RYR1	c.21T>G c.1495T>G c.1477T>G c.13085T>G (p.Leu4362Arg) c.13070T>G (p.Leu4357Arg) c.13067T>G (p.Leu4356Arg) c.13052T>G (p.Leu4351Arg) c.13082T>G (p.Leu4361Arg)

Number of alleles fetched