Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.38565019_38565038dup	CA2697556502	RYR1	c.1095_1114dup c.1077_1096dup c.12685_12704dup (p.Ser4235ArgfsTer7) c.12670_12689dup (p.Ser4230ArgfsTer7) c.12667_12686dup (p.Ser4229ArgfsTer7) c.6054_6073dup c.12652_12671dup (p.Ser4224ArgfsTer7) c.12682_12701dup (p.Ser4234ArgfsTer7)	ClinVar
19	g.38565035_38565037del	CA2538827511	RYR1	c.1111_1113del c.1093_1095del c.12701_12703del (p.Val4234_Ser4235delinsGly) c.12686_12688del (p.Val4229_Ser4230delinsGly) c.12683_12685del (p.Val4228_Ser4229delinsGly) c.6070_6072del c.12668_12670del (p.Val4223_Ser4224delinsGly) c.12698_12700del (p.Val4233_Ser4234delinsGly)
19	g.38565037_38565048dup	CA633066787	RYR1	c.1113_1124dup c.1095_1106dup c.12703_12714dup (p.Glu4238_Asp4239insSerPheCysGlu) c.12688_12699dup (p.Glu4233_Asp4234insSerPheCysGlu) c.12685_12696dup (p.Glu4232_Asp4233insSerPheCysGlu) c.6072_6083dup c.12670_12681dup (p.Glu4227_Asp4228insSerPheCysGlu) c.12700_12711dup (p.Glu4237_Asp4238insSerPheCysGlu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565037A>C	CA405670957	RYR1	c.1113A>C c.1095A>C c.12703A>C (p.Ser4235Arg) c.12688A>C (p.Ser4230Arg) c.12685A>C (p.Ser4229Arg) c.6072A>C c.12670A>C (p.Ser4224Arg) c.12700A>C (p.Ser4234Arg)
19	g.38565037A>G	CA405670958	RYR1	c.1113A>G c.1095A>G c.12703A>G (p.Ser4235Gly) c.12688A>G (p.Ser4230Gly) c.12685A>G (p.Ser4229Gly) c.6072A>G c.12670A>G (p.Ser4224Gly) c.12700A>G (p.Ser4234Gly)
19	g.38565037A>T	CA405670959	RYR1	c.1113A>T c.1095A>T c.12703A>T (p.Ser4235Cys) c.12688A>T (p.Ser4230Cys) c.12685A>T (p.Ser4229Cys) c.6072A>T c.12670A>T (p.Ser4224Cys) c.12700A>T (p.Ser4234Cys)
19	g.38565038G>A	CA405670962	RYR1	c.1114G>A c.1096G>A c.12704G>A (p.Ser4235Asn) c.12689G>A (p.Ser4230Asn) c.12686G>A (p.Ser4229Asn) c.6073G>A c.12671G>A (p.Ser4224Asn) c.12701G>A (p.Ser4234Asn)	gnomAD v4 COSMIC
19	g.38565038G>C	CA405670961	RYR1	c.1114G>C c.1096G>C c.12704G>C (p.Ser4235Thr) c.12689G>C (p.Ser4230Thr) c.12686G>C (p.Ser4229Thr) c.6073G>C c.12671G>C (p.Ser4224Thr) c.12701G>C (p.Ser4234Thr)
19	g.38565038G>T	CA405670960	RYR1	c.1114G>T c.1096G>T c.12704G>T (p.Ser4235Ile) c.12689G>T (p.Ser4230Ile) c.12686G>T (p.Ser4229Ile) c.6073G>T c.12671G>T (p.Ser4224Ile) c.12701G>T (p.Ser4234Ile)
19	g.38565039T>A	CA405670963	RYR1	c.1115T>A c.1097T>A c.12705T>A (p.Ser4235Arg) c.12690T>A (p.Ser4230Arg) c.12687T>A (p.Ser4229Arg) c.6074T>A c.12672T>A (p.Ser4224Arg) c.12702T>A (p.Ser4234Arg)
19	g.38565039T>C	CA507355446	RYR1	c.1115T>C c.1097T>C c.12705T>C (p.Ser4235=) c.12690T>C (p.Ser4230=) c.12687T>C (p.Ser4229=) c.6074T>C c.12672T>C (p.Ser4224=) c.12702T>C (p.Ser4234=)
19	g.38565039T>G	CA405670964	RYR1	c.1115T>G c.1097T>G c.12705T>G (p.Ser4235Arg) c.12690T>G (p.Ser4230Arg) c.12687T>G (p.Ser4229Arg) c.6074T>G c.12672T>G (p.Ser4224Arg) c.12702T>G (p.Ser4234Arg)
19	g.38565040T>A	CA405670965	RYR1	c.1116T>A c.1098T>A c.12706T>A (p.Phe4236Ile) c.12691T>A (p.Phe4231Ile) c.12688T>A (p.Phe4230Ile) c.6075T>A c.12673T>A (p.Phe4225Ile) c.12703T>A (p.Phe4235Ile)
19	g.38565040T>C	CA405670966	RYR1	c.1116T>C c.1098T>C c.12706T>C (p.Phe4236Leu) c.12691T>C (p.Phe4231Leu) c.12688T>C (p.Phe4230Leu) c.6075T>C c.12673T>C (p.Phe4225Leu) c.12703T>C (p.Phe4235Leu)
19	g.38565040T>G	CA405670967	RYR1	c.1116T>G c.1098T>G c.12706T>G (p.Phe4236Val) c.12691T>G (p.Phe4231Val) c.12688T>G (p.Phe4230Val) c.6075T>G c.12673T>G (p.Phe4225Val) c.12703T>G (p.Phe4235Val)
19	g.38565041T>A	CA405670968	RYR1	c.1117T>A c.1099T>A c.12707T>A (p.Phe4236Tyr) c.12692T>A (p.Phe4231Tyr) c.12689T>A (p.Phe4230Tyr) c.6076T>A c.12674T>A (p.Phe4225Tyr) c.12704T>A (p.Phe4235Tyr)
19	g.38565041T>C	CA405670969	RYR1	c.1117T>C c.1099T>C c.12707T>C (p.Phe4236Ser) c.12692T>C (p.Phe4231Ser) c.12689T>C (p.Phe4230Ser) c.6076T>C c.12674T>C (p.Phe4225Ser) c.12704T>C (p.Phe4235Ser)
19	g.38565041T>G	CA405670970	RYR1	c.1117T>G c.1099T>G c.12707T>G (p.Phe4236Cys) c.12692T>G (p.Phe4231Cys) c.12689T>G (p.Phe4230Cys) c.6076T>G c.12674T>G (p.Phe4225Cys) c.12704T>G (p.Phe4235Cys)
19	g.38565042C>A	CA405670971	RYR1	c.1118C>A c.1100C>A c.12708C>A (p.Phe4236Leu) c.12693C>A (p.Phe4231Leu) c.12690C>A (p.Phe4230Leu) c.6077C>A c.12675C>A (p.Phe4225Leu) c.12705C>A (p.Phe4235Leu)	gnomAD v4
19	g.38565042C=	CA2335084604	RYR1	c.1118C= c.1100C= c.12708C= (p.Phe4236=) c.12693C= (p.Phe4231=) c.12690C= (p.Phe4230=) c.6077C= c.12675C= (p.Phe4225=) c.12705C= (p.Phe4235=)
19	g.38565042C>G	CA405670972	RYR1	c.1118C>G c.1100C>G c.12708C>G (p.Phe4236Leu) c.12693C>G (p.Phe4231Leu) c.12690C>G (p.Phe4230Leu) c.6077C>G c.12675C>G (p.Phe4225Leu) c.12705C>G (p.Phe4235Leu)	gnomAD v4
19	g.38565042C>T	CA059346	RYR1	c.1118C>T c.1100C>T c.12708C>T (p.Phe4236=) c.12693C>T (p.Phe4231=) c.12690C>T (p.Phe4230=) c.6077C>T c.12675C>T (p.Phe4225=) c.12705C>T (p.Phe4235=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565043T>A	CA405670975	RYR1	c.1119T>A c.1101T>A c.12709T>A (p.Cys4237Ser) c.12694T>A (p.Cys4232Ser) c.12691T>A (p.Cys4231Ser) c.6078T>A c.12676T>A (p.Cys4226Ser) c.12706T>A (p.Cys4236Ser)
19	g.38565043T>C	CA405670974	RYR1	c.1119T>C c.1101T>C c.12709T>C (p.Cys4237Arg) c.12694T>C (p.Cys4232Arg) c.12691T>C (p.Cys4231Arg) c.6078T>C c.12676T>C (p.Cys4226Arg) c.12706T>C (p.Cys4236Arg)	gnomAD v4
19	g.38565043T>G	CA405670973	RYR1	c.1119T>G c.1101T>G c.12709T>G (p.Cys4237Gly) c.12694T>G (p.Cys4232Gly) c.12691T>G (p.Cys4231Gly) c.6078T>G c.12676T>G (p.Cys4226Gly) c.12706T>G (p.Cys4236Gly)
19	g.38565044G>A	CA405670976	RYR1	c.1120G>A c.1102G>A c.12710G>A (p.Cys4237Tyr) c.12695G>A (p.Cys4232Tyr) c.12692G>A (p.Cys4231Tyr) c.6079G>A c.12677G>A (p.Cys4226Tyr) c.12707G>A (p.Cys4236Tyr)
19	g.38565044G>C	CA405670977	RYR1	c.1120G>C c.1102G>C c.12710G>C (p.Cys4237Ser) c.12695G>C (p.Cys4232Ser) c.12692G>C (p.Cys4231Ser) c.6079G>C c.12677G>C (p.Cys4226Ser) c.12707G>C (p.Cys4236Ser)	gnomAD v4
19	g.38565044G>T	CA405670978	RYR1	c.1120G>T c.1102G>T c.12710G>T (p.Cys4237Phe) c.12695G>T (p.Cys4232Phe) c.12692G>T (p.Cys4231Phe) c.6079G>T c.12677G>T (p.Cys4226Phe) c.12707G>T (p.Cys4236Phe)	gnomAD v4
19	g.38565045C>A	CA405670979	RYR1	c.1121C>A c.1103C>A c.12711C>A (p.Cys4237Ter) c.12696C>A (p.Cys4232Ter) c.12693C>A (p.Cys4231Ter) c.6080C>A c.12678C>A (p.Cys4226Ter) c.12708C>A (p.Cys4236Ter)	gnomAD v4
19	g.38565045C=	CA2335084605	RYR1	c.1121C= c.1103C= c.12711C= (p.Cys4237=) c.12696C= (p.Cys4232=) c.12693C= (p.Cys4231=) c.6080C= c.12678C= (p.Cys4226=) c.12708C= (p.Cys4236=)
19	g.38565045C>G	CA405670980	RYR1	c.1121C>G c.1103C>G c.12711C>G (p.Cys4237Trp) c.12696C>G (p.Cys4232Trp) c.12693C>G (p.Cys4231Trp) c.6080C>G c.12678C>G (p.Cys4226Trp) c.12708C>G (p.Cys4236Trp)
19	g.38565045C>T	CA080750	RYR1	c.1121C>T c.1103C>T c.12711C>T (p.Cys4237=) c.12696C>T (p.Cys4232=) c.12693C>T (p.Cys4231=) c.6080C>T c.12678C>T (p.Cys4226=) c.12708C>T (p.Cys4236=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565046G>A	CA405670981	RYR1	c.1122G>A c.1104G>A c.12712G>A (p.Glu4238Lys) c.12697G>A (p.Glu4233Lys) c.12694G>A (p.Glu4232Lys) c.6081G>A c.12679G>A (p.Glu4227Lys) c.12709G>A (p.Glu4237Lys)	gnomAD v4
19	g.38565046G>C	CA405670982	RYR1	c.1122G>C c.1104G>C c.12712G>C (p.Glu4238Gln) c.12697G>C (p.Glu4233Gln) c.12694G>C (p.Glu4232Gln) c.6081G>C c.12679G>C (p.Glu4227Gln) c.12709G>C (p.Glu4237Gln)
19	g.38565046G>T	CA405670983	RYR1	c.1122G>T c.1104G>T c.12712G>T (p.Glu4238Ter) c.12697G>T (p.Glu4233Ter) c.12694G>T (p.Glu4232Ter) c.6081G>T c.12679G>T (p.Glu4227Ter) c.12709G>T (p.Glu4237Ter)	gnomAD v4
19	g.38565047A>C	CA405670984	RYR1	c.1123A>C c.1105A>C c.12713A>C (p.Glu4238Ala) c.12698A>C (p.Glu4233Ala) c.12695A>C (p.Glu4232Ala) c.6082A>C c.12680A>C (p.Glu4227Ala) c.12710A>C (p.Glu4237Ala)
19	g.38565047A>G	CA405670985	RYR1	c.1123A>G c.1105A>G c.12713A>G (p.Glu4238Gly) c.12698A>G (p.Glu4233Gly) c.12695A>G (p.Glu4232Gly) c.6082A>G c.12680A>G (p.Glu4227Gly) c.12710A>G (p.Glu4237Gly)
19	g.38565047A>T	CA405670986	RYR1	c.1123A>T c.1105A>T c.12713A>T (p.Glu4238Val) c.12698A>T (p.Glu4233Val) c.12695A>T (p.Glu4232Val) c.6082A>T c.12680A>T (p.Glu4227Val) c.12710A>T (p.Glu4237Val)
19	g.38565048G>A	CA507355450	RYR1	c.1124G>A c.1106G>A c.12714G>A (p.Glu4238=) c.12699G>A (p.Glu4233=) c.12696G>A (p.Glu4232=) c.6083G>A c.12681G>A (p.Glu4227=) c.12711G>A (p.Glu4237=)	gnomAD v4
19	g.38565048G>C	CA405670987	RYR1	c.1124G>C c.1106G>C c.12714G>C (p.Glu4238Asp) c.12699G>C (p.Glu4233Asp) c.12696G>C (p.Glu4232Asp) c.6083G>C c.12681G>C (p.Glu4227Asp) c.12711G>C (p.Glu4237Asp)
19	g.38565048G>T	CA405670988	RYR1	c.1124G>T c.1106G>T c.12714G>T (p.Glu4238Asp) c.12699G>T (p.Glu4233Asp) c.12696G>T (p.Glu4232Asp) c.6083G>T c.12681G>T (p.Glu4227Asp) c.12711G>T (p.Glu4237Asp)	gnomAD v4
19	g.38565049G>A	CA405670989	RYR1	c.1125G>A c.1107G>A c.12715G>A (p.Asp4239Asn) c.12700G>A (p.Asp4234Asn) c.12697G>A (p.Asp4233Asn) c.6084G>A c.12682G>A (p.Asp4228Asn) c.12712G>A (p.Asp4238Asn)
19	g.38565049G>C	CA405670991	RYR1	c.1125G>C c.1107G>C c.12715G>C (p.Asp4239His) c.12700G>C (p.Asp4234His) c.12697G>C (p.Asp4233His) c.6084G>C c.12682G>C (p.Asp4228His) c.12712G>C (p.Asp4238His)
19	g.38565049G>T	CA405670990	RYR1	c.1125G>T c.1107G>T c.12715G>T (p.Asp4239Tyr) c.12700G>T (p.Asp4234Tyr) c.12697G>T (p.Asp4233Tyr) c.6084G>T c.12682G>T (p.Asp4228Tyr) c.12712G>T (p.Asp4238Tyr)	gnomAD v4
19	g.38565050A>C	CA405670992	RYR1	c.1126A>C c.1108A>C c.12716A>C (p.Asp4239Ala) c.12701A>C (p.Asp4234Ala) c.12698A>C (p.Asp4233Ala) c.6085A>C c.12683A>C (p.Asp4228Ala) c.12713A>C (p.Asp4238Ala)
19	g.38565050A>G	CA405670993	RYR1	c.1126A>G c.1108A>G c.12716A>G (p.Asp4239Gly) c.12701A>G (p.Asp4234Gly) c.12698A>G (p.Asp4233Gly) c.6085A>G c.12683A>G (p.Asp4228Gly) c.12713A>G (p.Asp4238Gly)	gnomAD v4
19	g.38565050A>T	CA405670994	RYR1	c.1126A>T c.1108A>T c.12716A>T (p.Asp4239Val) c.12701A>T (p.Asp4234Val) c.12698A>T (p.Asp4233Val) c.6085A>T c.12683A>T (p.Asp4228Val) c.12713A>T (p.Asp4238Val)
19	g.38565051C>A	CA405670995	RYR1	c.1127C>A c.1109C>A c.12717C>A (p.Asp4239Glu) c.12702C>A (p.Asp4234Glu) c.12699C>A (p.Asp4233Glu) c.6086C>A c.12684C>A (p.Asp4228Glu) c.12714C>A (p.Asp4238Glu)	gnomAD v4
19	g.38565051C>G	CA405670996	RYR1	c.1127C>G c.1109C>G c.12717C>G (p.Asp4239Glu) c.12702C>G (p.Asp4234Glu) c.12699C>G (p.Asp4233Glu) c.6086C>G c.12684C>G (p.Asp4228Glu) c.12714C>G (p.Asp4238Glu)
19	g.38565051C>T	CA507355452	RYR1	c.1127C>T c.1109C>T c.12717C>T (p.Asp4239=) c.12702C>T (p.Asp4234=) c.12699C>T (p.Asp4233=) c.6086C>T c.12684C>T (p.Asp4228=) c.12714C>T (p.Asp4238=)
19	g.38565052A=	CA2335084606	RYR1	c.1128A= c.1110A= c.12718A= (p.Thr4240=) c.12703A= (p.Thr4235=) c.12700A= (p.Thr4234=) c.6087A= c.12685A= (p.Thr4229=) c.12715A= (p.Thr4239=)
19	g.38565052A>C	CA405670997	RYR1	c.1128A>C c.1110A>C c.12718A>C (p.Thr4240Pro) c.12703A>C (p.Thr4235Pro) c.12700A>C (p.Thr4234Pro) c.6087A>C c.12685A>C (p.Thr4229Pro) c.12715A>C (p.Thr4239Pro)
19	g.38565052A>G	CA405670998	RYR1	c.1128A>G c.1110A>G c.12718A>G (p.Thr4240Ala) c.12703A>G (p.Thr4235Ala) c.12700A>G (p.Thr4234Ala) c.6087A>G c.12685A>G (p.Thr4229Ala) c.12715A>G (p.Thr4239Ala)	ClinVar dbSNP
19	g.38565052A>T	CA405670999	RYR1	c.1128A>T c.1110A>T c.12718A>T (p.Thr4240Ser) c.12703A>T (p.Thr4235Ser) c.12700A>T (p.Thr4234Ser) c.6087A>T c.12685A>T (p.Thr4229Ser) c.12715A>T (p.Thr4239Ser)	gnomAD v4
19	g.38565053C>A	CA405671000	RYR1	c.1129C>A c.1111C>A c.12719C>A (p.Thr4240Asn) c.12704C>A (p.Thr4235Asn) c.12701C>A (p.Thr4234Asn) c.6088C>A c.12686C>A (p.Thr4229Asn) c.12716C>A (p.Thr4239Asn)	gnomAD v4
19	g.38565053C=	CA2335084607	RYR1	c.1129C= c.1111C= c.12719C= (p.Thr4240=) c.12704C= (p.Thr4235=) c.12701C= (p.Thr4234=) c.6088C= c.12686C= (p.Thr4229=) c.12716C= (p.Thr4239=)
19	g.38565053C>G	CA059350	RYR1	c.1129C>G c.1111C>G c.12719C>G (p.Thr4240Ser) c.12704C>G (p.Thr4235Ser) c.12701C>G (p.Thr4234Ser) c.6088C>G c.12686C>G (p.Thr4229Ser) c.12716C>G (p.Thr4239Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565053C>T	CA405671001	RYR1	c.1129C>T c.1111C>T c.12719C>T (p.Thr4240Ile) c.12704C>T (p.Thr4235Ile) c.12701C>T (p.Thr4234Ile) c.6088C>T c.12686C>T (p.Thr4229Ile) c.12716C>T (p.Thr4239Ile)	gnomAD v4
19	g.38565054C>A	CA507355457	RYR1	c.1130C>A c.1112C>A c.12720C>A (p.Thr4240=) c.12705C>A (p.Thr4235=) c.12702C>A (p.Thr4234=) c.6089C>A c.12687C>A (p.Thr4229=) c.12717C>A (p.Thr4239=)	gnomAD v4
19	g.38565054C=	CA2335084608	RYR1	c.1130C= c.1112C= c.12720C= (p.Thr4240=) c.12705C= (p.Thr4235=) c.12702C= (p.Thr4234=) c.6089C= c.12687C= (p.Thr4229=) c.12717C= (p.Thr4239=)
19	g.38565054C>G	CA507355458	RYR1	c.1130C>G c.1112C>G c.12720C>G (p.Thr4240=) c.12705C>G (p.Thr4235=) c.12702C>G (p.Thr4234=) c.6089C>G c.12687C>G (p.Thr4229=) c.12717C>G (p.Thr4239=)
19	g.38565054C>T	CA059354	RYR1	c.1130C>T c.1112C>T c.12720C>T (p.Thr4240=) c.12705C>T (p.Thr4235=) c.12702C>T (p.Thr4234=) c.6089C>T c.12687C>T (p.Thr4229=) c.12717C>T (p.Thr4239=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565055A>C	CA405671003	RYR1	c.1131A>C c.1113A>C c.12721A>C (p.Ile4241Leu) c.12706A>C (p.Ile4236Leu) c.12703A>C (p.Ile4235Leu) c.6090A>C c.12688A>C (p.Ile4230Leu) c.12718A>C (p.Ile4240Leu)
19	g.38565055A>G	CA405671002	RYR1	c.1131A>G c.1113A>G c.12721A>G (p.Ile4241Val) c.12706A>G (p.Ile4236Val) c.12703A>G (p.Ile4235Val) c.6090A>G c.12688A>G (p.Ile4230Val) c.12718A>G (p.Ile4240Val)	ClinVar gnomAD v4
19	g.38565055A>T	CA405671004	RYR1	c.1131A>T c.1113A>T c.12721A>T (p.Ile4241Phe) c.12706A>T (p.Ile4236Phe) c.12703A>T (p.Ile4235Phe) c.6090A>T c.12688A>T (p.Ile4230Phe) c.12718A>T (p.Ile4240Phe)
19	g.38565056T>A	CA405671005	RYR1	c.1132T>A c.1114T>A c.12722T>A (p.Ile4241Asn) c.12707T>A (p.Ile4236Asn) c.12704T>A (p.Ile4235Asn) c.6091T>A c.12689T>A (p.Ile4230Asn) c.12719T>A (p.Ile4240Asn)	gnomAD v4
19	g.38565056T>C	CA405671006	RYR1	c.1132T>C c.1114T>C c.12722T>C (p.Ile4241Thr) c.12707T>C (p.Ile4236Thr) c.12704T>C (p.Ile4235Thr) c.6091T>C c.12689T>C (p.Ile4230Thr) c.12719T>C (p.Ile4240Thr)	gnomAD v4
19	g.38565056T>G	CA405671007	RYR1	c.1132T>G c.1114T>G c.12722T>G (p.Ile4241Ser) c.12707T>G (p.Ile4236Ser) c.12704T>G (p.Ile4235Ser) c.6091T>G c.12689T>G (p.Ile4230Ser) c.12719T>G (p.Ile4240Ser)
19	g.38565057C>A	CA507355465	RYR1	c.1133C>A c.1115C>A c.12723C>A (p.Ile4241=) c.12708C>A (p.Ile4236=) c.12705C>A (p.Ile4235=) c.6092C>A c.12690C>A (p.Ile4230=) c.12720C>A (p.Ile4240=)	gnomAD v4
19	g.38565057C>G	CA405671008	RYR1	c.1133C>G c.1115C>G c.12723C>G (p.Ile4241Met) c.12708C>G (p.Ile4236Met) c.12705C>G (p.Ile4235Met) c.6092C>G c.12690C>G (p.Ile4230Met) c.12720C>G (p.Ile4240Met)
19	g.38565057C>T	CA080752	RYR1	c.1133C>T c.1115C>T c.12723C>T (p.Ile4241=) c.12708C>T (p.Ile4236=) c.12705C>T (p.Ile4235=) c.6092C>T c.12690C>T (p.Ile4230=) c.12720C>T (p.Ile4240=)	gnomAD v4
19	g.38565058T>A	CA405671009	RYR1	c.1134T>A c.1116T>A c.12724T>A (p.Phe4242Ile) c.12709T>A (p.Phe4237Ile) c.12706T>A (p.Phe4236Ile) c.6093T>A c.12691T>A (p.Phe4231Ile) c.12721T>A (p.Phe4241Ile)
19	g.38565058T>C	CA405671010	RYR1	c.1134T>C c.1116T>C c.12724T>C (p.Phe4242Leu) c.12709T>C (p.Phe4237Leu) c.12706T>C (p.Phe4236Leu) c.6093T>C c.12691T>C (p.Phe4231Leu) c.12721T>C (p.Phe4241Leu)
19	g.38565058T>G	CA405671011	RYR1	c.1134T>G c.1116T>G c.12724T>G (p.Phe4242Val) c.12709T>G (p.Phe4237Val) c.12706T>G (p.Phe4236Val) c.6093T>G c.12691T>G (p.Phe4231Val) c.12721T>G (p.Phe4241Val)
19	g.38565059T>A	CA405671014	RYR1	c.1135T>A c.1117T>A c.12725T>A (p.Phe4242Tyr) c.12710T>A (p.Phe4237Tyr) c.12707T>A (p.Phe4236Tyr) c.6094T>A c.12692T>A (p.Phe4231Tyr) c.12722T>A (p.Phe4241Tyr)
19	g.38565059T>C	CA405671012	RYR1	c.1135T>C c.1117T>C c.12725T>C (p.Phe4242Ser) c.12710T>C (p.Phe4237Ser) c.12707T>C (p.Phe4236Ser) c.6094T>C c.12692T>C (p.Phe4231Ser) c.12722T>C (p.Phe4241Ser)	gnomAD v4
19	g.38565059T>G	CA405671013	RYR1	c.1135T>G c.1117T>G c.12725T>G (p.Phe4242Cys) c.12710T>G (p.Phe4237Cys) c.12707T>G (p.Phe4236Cys) c.6094T>G c.12692T>G (p.Phe4231Cys) c.12722T>G (p.Phe4241Cys)
19	g.38565060C>A	CA405671015	RYR1	c.1136C>A c.1118C>A c.12726C>A (p.Phe4242Leu) c.12711C>A (p.Phe4237Leu) c.12708C>A (p.Phe4236Leu) c.6095C>A c.12693C>A (p.Phe4231Leu) c.12723C>A (p.Phe4241Leu)	gnomAD v4
19	g.38565060C=	CA2335084609	RYR1	c.1136C= c.1118C= c.12726C= (p.Phe4242=) c.12711C= (p.Phe4237=) c.12708C= (p.Phe4236=) c.6095C= c.12693C= (p.Phe4231=) c.12723C= (p.Phe4241=)
19	g.38565060C>G	CA405671016	RYR1	c.1136C>G c.1118C>G c.12726C>G (p.Phe4242Leu) c.12711C>G (p.Phe4237Leu) c.12708C>G (p.Phe4236Leu) c.6095C>G c.12693C>G (p.Phe4231Leu) c.12723C>G (p.Phe4241Leu)	gnomAD v4
19	g.38565060C>T	CA507355473	RYR1	c.1136C>T c.1118C>T c.12726C>T (p.Phe4242=) c.12711C>T (p.Phe4237=) c.12708C>T (p.Phe4236=) c.6095C>T c.12693C>T (p.Phe4231=) c.12723C>T (p.Phe4241=)	ClinVar dbSNP gnomAD v4
19	g.38565061G>A	CA405671017	RYR1	c.1137G>A c.1119G>A c.12727G>A (p.Glu4243Lys) c.12712G>A (p.Glu4238Lys) c.12709G>A (p.Glu4237Lys) c.6096G>A c.12694G>A (p.Glu4232Lys) c.12724G>A (p.Glu4242Lys)	ClinVar dbSNP
19	g.38565061G>C	CA405671018	RYR1	c.1137G>C c.1119G>C c.12727G>C (p.Glu4243Gln) c.12712G>C (p.Glu4238Gln) c.12709G>C (p.Glu4237Gln) c.6096G>C c.12694G>C (p.Glu4232Gln) c.12724G>C (p.Glu4242Gln)
19	g.38565061G=	CA2335084610	RYR1	c.1137G= c.1119G= c.12727G= (p.Glu4243=) c.12712G= (p.Glu4238=) c.12709G= (p.Glu4237=) c.6096G= c.12694G= (p.Glu4232=) c.12724G= (p.Glu4242=)
19	g.38565061G>T	CA405671019	RYR1	c.1137G>T c.1119G>T c.12727G>T (p.Glu4243Ter) c.12712G>T (p.Glu4238Ter) c.12709G>T (p.Glu4237Ter) c.6096G>T c.12694G>T (p.Glu4232Ter) c.12724G>T (p.Glu4242Ter)	gnomAD v4
19	g.38565062A>C	CA405671020	RYR1	c.1138A>C c.1120A>C c.12728A>C (p.Glu4243Ala) c.12713A>C (p.Glu4238Ala) c.12710A>C (p.Glu4237Ala) c.6097A>C c.12695A>C (p.Glu4232Ala) c.12725A>C (p.Glu4242Ala)
19	g.38565062A>G	CA405671022	RYR1	c.1138A>G c.1120A>G c.12728A>G (p.Glu4243Gly) c.12713A>G (p.Glu4238Gly) c.12710A>G (p.Glu4237Gly) c.6097A>G c.12695A>G (p.Glu4232Gly) c.12725A>G (p.Glu4242Gly)
19	g.38565062A>T	CA405671021	RYR1	c.1138A>T c.1120A>T c.12728A>T (p.Glu4243Val) c.12713A>T (p.Glu4238Val) c.12710A>T (p.Glu4237Val) c.6097A>T c.12695A>T (p.Glu4232Val) c.12725A>T (p.Glu4242Val)
19	g.38565063G>A	CA507355480	RYR1	c.1139G>A c.1121G>A c.12729G>A (p.Glu4243=) c.12714G>A (p.Glu4238=) c.12711G>A (p.Glu4237=) c.6098G>A c.12696G>A (p.Glu4232=) c.12726G>A (p.Glu4242=)	dbSNP gnomAD v2 gnomAD v4
19	g.38565063G>C	CA405671023	RYR1	c.1139G>C c.1121G>C c.12729G>C (p.Glu4243Asp) c.12714G>C (p.Glu4238Asp) c.12711G>C (p.Glu4237Asp) c.6098G>C c.12696G>C (p.Glu4232Asp) c.12726G>C (p.Glu4242Asp)	ClinVar dbSNP
19	g.38565063G=	CA2335084611	RYR1	c.1139G= c.1121G= c.12729G= (p.Glu4243=) c.12714G= (p.Glu4238=) c.12711G= (p.Glu4237=) c.6098G= c.12696G= (p.Glu4232=) c.12726G= (p.Glu4242=)
19	g.38565063G>T	CA405671024	RYR1	c.1139G>T c.1121G>T c.12729G>T (p.Glu4243Asp) c.12714G>T (p.Glu4238Asp) c.12711G>T (p.Glu4237Asp) c.6098G>T c.12696G>T (p.Glu4232Asp) c.12726G>T (p.Glu4242Asp)	gnomAD v4
19	g.38565064A>C	CA405671025	RYR1	c.1140A>C c.1122A>C c.12730A>C (p.Met4244Leu) c.12715A>C (p.Met4239Leu) c.12712A>C (p.Met4238Leu) c.6099A>C c.12697A>C (p.Met4233Leu) c.12727A>C (p.Met4243Leu)
19	g.38565064A>G	CA405671026	RYR1	c.1140A>G c.1122A>G c.12730A>G (p.Met4244Val) c.12715A>G (p.Met4239Val) c.12712A>G (p.Met4238Val) c.6099A>G c.12697A>G (p.Met4233Val) c.12727A>G (p.Met4243Val)	gnomAD v4
19	g.38565064A>T	CA405671027	RYR1	c.1140A>T c.1122A>T c.12730A>T (p.Met4244Leu) c.12715A>T (p.Met4239Leu) c.12712A>T (p.Met4238Leu) c.6099A>T c.12697A>T (p.Met4233Leu) c.12727A>T (p.Met4243Leu)	gnomAD v4
19	g.38565065T>A	CA405671028	RYR1	c.1141T>A c.1123T>A c.12731T>A (p.Met4244Lys) c.12716T>A (p.Met4239Lys) c.12713T>A (p.Met4238Lys) c.6100T>A c.12698T>A (p.Met4233Lys) c.12728T>A (p.Met4243Lys)
19	g.38565065T>C	CA059359	RYR1	c.1141T>C c.1123T>C c.12731T>C (p.Met4244Thr) c.12716T>C (p.Met4239Thr) c.12713T>C (p.Met4238Thr) c.6100T>C c.12698T>C (p.Met4233Thr) c.12728T>C (p.Met4243Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565065T>G	CA405671029	RYR1	c.1141T>G c.1123T>G c.12731T>G (p.Met4244Arg) c.12716T>G (p.Met4239Arg) c.12713T>G (p.Met4238Arg) c.6100T>G c.12698T>G (p.Met4233Arg) c.12728T>G (p.Met4243Arg)
19	g.38565065T=	CA2335084612	RYR1	c.1141T= c.1123T= c.12731T= (p.Met4244=) c.12716T= (p.Met4239=) c.12713T= (p.Met4238=) c.6100T= c.12698T= (p.Met4233=) c.12728T= (p.Met4243=)
19	g.38565066G>A	CA405671030	RYR1	c.1142G>A c.1124G>A c.12732G>A (p.Met4244Ile) c.12717G>A (p.Met4239Ile) c.12714G>A (p.Met4238Ile) c.6101G>A c.12699G>A (p.Met4233Ile) c.12729G>A (p.Met4243Ile)	gnomAD v4
19	g.38565066G>C	CA405671031	RYR1	c.1142G>C c.1124G>C c.12732G>C (p.Met4244Ile) c.12717G>C (p.Met4239Ile) c.12714G>C (p.Met4238Ile) c.6101G>C c.12699G>C (p.Met4233Ile) c.12729G>C (p.Met4243Ile)
19	g.38565066G>T	CA405671032	RYR1	c.1142G>T c.1124G>T c.12732G>T (p.Met4244Ile) c.12717G>T (p.Met4239Ile) c.12714G>T (p.Met4238Ile) c.6101G>T c.12699G>T (p.Met4233Ile) c.12729G>T (p.Met4243Ile)	gnomAD v4 COSMIC
19	g.38565073_38565084del	CA2573054758	RYR1	c.1149_1160del c.1131_1142del c.12739_12750del (p.Ala4247_Ile4250del) c.12724_12735del (p.Ala4242_Ile4245del) c.12721_12732del (p.Ala4241_Ile4244del) c.6108_6119del c.12706_12717del (p.Ala4236_Ile4239del) c.12736_12747del (p.Ala4246_Ile4249del)	ClinVar dbSNP gnomAD v4
19	g.38565067C>A	CA405671033	RYR1	c.1143C>A c.1125C>A c.12733C>A (p.Gln4245Lys) c.12718C>A (p.Gln4240Lys) c.12715C>A (p.Gln4239Lys) c.6102C>A c.12700C>A (p.Gln4234Lys) c.12730C>A (p.Gln4244Lys)	gnomAD v4
19	g.38565067C=	CA2335084613	RYR1	c.1143C= c.1125C= c.12733C= (p.Gln4245=) c.12718C= (p.Gln4240=) c.12715C= (p.Gln4239=) c.6102C= c.12700C= (p.Gln4234=) c.12730C= (p.Gln4244=)
19	g.38565067C>G	CA405671035	RYR1	c.1143C>G c.1125C>G c.12733C>G (p.Gln4245Glu) c.12718C>G (p.Gln4240Glu) c.12715C>G (p.Gln4239Glu) c.6102C>G c.12700C>G (p.Gln4234Glu) c.12730C>G (p.Gln4244Glu)	dbSNP gnomAD v2
19	g.38565067C>T	CA405671034	RYR1	c.1143C>T c.1125C>T c.12733C>T (p.Gln4245Ter) c.12718C>T (p.Gln4240Ter) c.12715C>T (p.Gln4239Ter) c.6102C>T c.12700C>T (p.Gln4234Ter) c.12730C>T (p.Gln4244Ter)	gnomAD v4
19	g.38565068A>C	CA405671036	RYR1	c.1144A>C c.1126A>C c.12734A>C (p.Gln4245Pro) c.12719A>C (p.Gln4240Pro) c.12716A>C (p.Gln4239Pro) c.6103A>C c.12701A>C (p.Gln4234Pro) c.12731A>C (p.Gln4244Pro)
19	g.38565068A>G	CA405671037	RYR1	c.1144A>G c.1126A>G c.12734A>G (p.Gln4245Arg) c.12719A>G (p.Gln4240Arg) c.12716A>G (p.Gln4239Arg) c.6103A>G c.12701A>G (p.Gln4234Arg) c.12731A>G (p.Gln4244Arg)	gnomAD v4
19	g.38565068A>T	CA405671038	RYR1	c.1144A>T c.1126A>T c.12734A>T (p.Gln4245Leu) c.12719A>T (p.Gln4240Leu) c.12716A>T (p.Gln4239Leu) c.6103A>T c.12701A>T (p.Gln4234Leu) c.12731A>T (p.Gln4244Leu)	gnomAD v4
19	g.38565069G>A	CA507355487	RYR1	c.1145G>A c.1127G>A c.12735G>A (p.Gln4245=) c.12720G>A (p.Gln4240=) c.12717G>A (p.Gln4239=) c.6104G>A c.12702G>A (p.Gln4234=) c.12732G>A (p.Gln4244=)
19	g.38565069G>C	CA405671039	RYR1	c.1145G>C c.1127G>C c.12735G>C (p.Gln4245His) c.12720G>C (p.Gln4240His) c.12717G>C (p.Gln4239His) c.6104G>C c.12702G>C (p.Gln4234His) c.12732G>C (p.Gln4244His)
19	g.38565069G>T	CA405671040	RYR1	c.1145G>T c.1127G>T c.12735G>T (p.Gln4245His) c.12720G>T (p.Gln4240His) c.12717G>T (p.Gln4239His) c.6104G>T c.12702G>T (p.Gln4234His) c.12732G>T (p.Gln4244His)	gnomAD v4
19	g.38565070A>C	CA405671041	RYR1	c.1146A>C c.1128A>C c.12736A>C (p.Ile4246Leu) c.12721A>C (p.Ile4241Leu) c.12718A>C (p.Ile4240Leu) c.6105A>C c.12703A>C (p.Ile4235Leu) c.12733A>C (p.Ile4245Leu)
19	g.38565070A>G	CA405671042	RYR1	c.1146A>G c.1128A>G c.12736A>G (p.Ile4246Val) c.12721A>G (p.Ile4241Val) c.12718A>G (p.Ile4240Val) c.6105A>G c.12703A>G (p.Ile4235Val) c.12733A>G (p.Ile4245Val)
19	g.38565070A>T	CA405671043	RYR1	c.1146A>T c.1128A>T c.12736A>T (p.Ile4246Phe) c.12721A>T (p.Ile4241Phe) c.12718A>T (p.Ile4240Phe) c.6105A>T c.12703A>T (p.Ile4235Phe) c.12733A>T (p.Ile4245Phe)
19	g.38565071T>A	CA405671044	RYR1	c.1147T>A c.1129T>A c.12737T>A (p.Ile4246Asn) c.12722T>A (p.Ile4241Asn) c.12719T>A (p.Ile4240Asn) c.6106T>A c.12704T>A (p.Ile4235Asn) c.12734T>A (p.Ile4245Asn)	gnomAD v4
19	g.38565071T>C	CA405671045	RYR1	c.1147T>C c.1129T>C c.12737T>C (p.Ile4246Thr) c.12722T>C (p.Ile4241Thr) c.12719T>C (p.Ile4240Thr) c.6106T>C c.12704T>C (p.Ile4235Thr) c.12734T>C (p.Ile4245Thr)
19	g.38565071T>G	CA405671046	RYR1	c.1147T>G c.1129T>G c.12737T>G (p.Ile4246Ser) c.12722T>G (p.Ile4241Ser) c.12719T>G (p.Ile4240Ser) c.6106T>G c.12704T>G (p.Ile4235Ser) c.12734T>G (p.Ile4245Ser)
19	g.38565072C>A	CA507355495	RYR1	c.1148C>A c.1130C>A c.12738C>A (p.Ile4246=) c.12723C>A (p.Ile4241=) c.12720C>A (p.Ile4240=) c.6107C>A c.12705C>A (p.Ile4235=) c.12735C>A (p.Ile4245=)	gnomAD v4
19	g.38565072C=	CA2335084614	RYR1	c.1148C= c.1130C= c.12738C= (p.Ile4246=) c.12723C= (p.Ile4241=) c.12720C= (p.Ile4240=) c.6107C= c.12705C= (p.Ile4235=) c.12735C= (p.Ile4245=)
19	g.38565072C>G	CA405671047	RYR1	c.1148C>G c.1130C>G c.12738C>G (p.Ile4246Met) c.12723C>G (p.Ile4241Met) c.12720C>G (p.Ile4240Met) c.6107C>G c.12705C>G (p.Ile4235Met) c.12735C>G (p.Ile4245Met)	gnomAD v4
19	g.38565072C>T	CA059362	RYR1	c.1148C>T c.1130C>T c.12738C>T (p.Ile4246=) c.12723C>T (p.Ile4241=) c.12720C>T (p.Ile4240=) c.6107C>T c.12705C>T (p.Ile4235=) c.12735C>T (p.Ile4245=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565073G>A	CA405671048	RYR1	c.1149G>A c.1131G>A c.12739G>A (p.Ala4247Thr) c.12724G>A (p.Ala4242Thr) c.12721G>A (p.Ala4241Thr) c.6108G>A c.12706G>A (p.Ala4236Thr) c.12736G>A (p.Ala4246Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.38565073G>C	CA405671050	RYR1	c.1149G>C c.1131G>C c.12739G>C (p.Ala4247Pro) c.12724G>C (p.Ala4242Pro) c.12721G>C (p.Ala4241Pro) c.6108G>C c.12706G>C (p.Ala4236Pro) c.12736G>C (p.Ala4246Pro)
19	g.38565073G=	CA2335084615	RYR1	c.1149G= c.1131G= c.12739G= (p.Ala4247=) c.12724G= (p.Ala4242=) c.12721G= (p.Ala4241=) c.6108G= c.12706G= (p.Ala4236=) c.12736G= (p.Ala4246=)
19	g.38565073G>T	CA405671049	RYR1	c.1149G>T c.1131G>T c.12739G>T (p.Ala4247Ser) c.12724G>T (p.Ala4242Ser) c.12721G>T (p.Ala4241Ser) c.6108G>T c.12706G>T (p.Ala4236Ser) c.12736G>T (p.Ala4246Ser)
19	g.38565074C>A	CA405671051	RYR1	c.1150C>A c.1132C>A c.12740C>A (p.Ala4247Asp) c.12725C>A (p.Ala4242Asp) c.12722C>A (p.Ala4241Asp) c.6109C>A c.12707C>A (p.Ala4236Asp) c.12737C>A (p.Ala4246Asp)	gnomAD v4
19	g.38565074C>G	CA405671052	RYR1	c.1150C>G c.1132C>G c.12740C>G (p.Ala4247Gly) c.12725C>G (p.Ala4242Gly) c.12722C>G (p.Ala4241Gly) c.6109C>G c.12707C>G (p.Ala4236Gly) c.12737C>G (p.Ala4246Gly)
19	g.38565074C>T	CA405671053	RYR1	c.1150C>T c.1132C>T c.12740C>T (p.Ala4247Val) c.12725C>T (p.Ala4242Val) c.12722C>T (p.Ala4241Val) c.6109C>T c.12707C>T (p.Ala4236Val) c.12737C>T (p.Ala4246Val)	gnomAD v4
19	g.38565075C>A	CA507355506	RYR1	c.1151C>A c.1133C>A c.12741C>A (p.Ala4247=) c.12726C>A (p.Ala4242=) c.12723C>A (p.Ala4241=) c.6110C>A c.12708C>A (p.Ala4236=) c.12738C>A (p.Ala4246=)	ClinVar dbSNP gnomAD v4
19	g.38565075C=	CA2335084616	RYR1	c.1151C= c.1133C= c.12741C= (p.Ala4247=) c.12726C= (p.Ala4242=) c.12723C= (p.Ala4241=) c.6110C= c.12708C= (p.Ala4236=) c.12738C= (p.Ala4246=)
19	g.38565075C>G	CA507355507	RYR1	c.1151C>G c.1133C>G c.12741C>G (p.Ala4247=) c.12726C>G (p.Ala4242=) c.12723C>G (p.Ala4241=) c.6110C>G c.12708C>G (p.Ala4236=) c.12738C>G (p.Ala4246=)
19	g.38565075C>T	CA024003	RYR1	c.1151C>T c.1133C>T c.12741C>T (p.Ala4247=) c.12726C>T (p.Ala4242=) c.12723C>T (p.Ala4241=) c.6110C>T c.12708C>T (p.Ala4236=) c.12738C>T (p.Ala4246=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565076G>A	CA405671054	RYR1	c.1152G>A c.1134G>A c.12742G>A (p.Ala4248Thr) c.12727G>A (p.Ala4243Thr) c.12724G>A (p.Ala4242Thr) c.6111G>A c.12709G>A (p.Ala4237Thr) c.12739G>A (p.Ala4247Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565076G>C	CA405671055	RYR1	c.1152G>C c.1134G>C c.12742G>C (p.Ala4248Pro) c.12727G>C (p.Ala4243Pro) c.12724G>C (p.Ala4242Pro) c.6111G>C c.12709G>C (p.Ala4237Pro) c.12739G>C (p.Ala4247Pro)
19	g.38565076G=	CA2335084617	RYR1	c.1152G= c.1134G= c.12742G= (p.Ala4248=) c.12727G= (p.Ala4243=) c.12724G= (p.Ala4242=) c.6111G= c.12709G= (p.Ala4237=) c.12739G= (p.Ala4247=)
19	g.38565076G>T	CA405671056	RYR1	c.1152G>T c.1134G>T c.12742G>T (p.Ala4248Ser) c.12727G>T (p.Ala4243Ser) c.12724G>T (p.Ala4242Ser) c.6111G>T c.12709G>T (p.Ala4237Ser) c.12739G>T (p.Ala4247Ser)	gnomAD v4
19	g.38565077C>A	CA405671057	RYR1	c.1153C>A c.1135C>A c.12743C>A (p.Ala4248Glu) c.12728C>A (p.Ala4243Glu) c.12725C>A (p.Ala4242Glu) c.6112C>A c.12710C>A (p.Ala4237Glu) c.12740C>A (p.Ala4247Glu)	gnomAD v4
19	g.38565077C=	CA2335084618	RYR1	c.1153C= c.1135C= c.12743C= (p.Ala4248=) c.12728C= (p.Ala4243=) c.12725C= (p.Ala4242=) c.6112C= c.12710C= (p.Ala4237=) c.12740C= (p.Ala4247=)
19	g.38565077C>G	CA405671058	RYR1	c.1153C>G c.1135C>G c.12743C>G (p.Ala4248Gly) c.12728C>G (p.Ala4243Gly) c.12725C>G (p.Ala4242Gly) c.6112C>G c.12710C>G (p.Ala4237Gly) c.12740C>G (p.Ala4247Gly)	gnomAD v4
19	g.38565077C>T	CA405671059	RYR1	c.1153C>T c.1135C>T c.12743C>T (p.Ala4248Val) c.12728C>T (p.Ala4243Val) c.12725C>T (p.Ala4242Val) c.6112C>T c.12710C>T (p.Ala4237Val) c.12740C>T (p.Ala4247Val)	ClinVar dbSNP gnomAD v4 COSMIC
19	g.38565078G>A	CA507355510	RYR1	c.1154G>A c.1136G>A c.12744G>A (p.Ala4248=) c.12729G>A (p.Ala4243=) c.12726G>A (p.Ala4242=) c.6113G>A c.12711G>A (p.Ala4237=) c.12741G>A (p.Ala4247=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565078G>C	CA507355511	RYR1	c.1154G>C c.1136G>C c.12744G>C (p.Ala4248=) c.12729G>C (p.Ala4243=) c.12726G>C (p.Ala4242=) c.6113G>C c.12711G>C (p.Ala4237=) c.12741G>C (p.Ala4247=)
19	g.38565078G=	CA2335084619	RYR1	c.1154G= c.1136G= c.12744G= (p.Ala4248=) c.12729G= (p.Ala4243=) c.12726G= (p.Ala4242=) c.6113G= c.12711G= (p.Ala4237=) c.12741G= (p.Ala4247=)
19	g.38565078G>T	CA507355512	RYR1	c.1154G>T c.1136G>T c.12744G>T (p.Ala4248=) c.12729G>T (p.Ala4243=) c.12726G>T (p.Ala4242=) c.6113G>T c.12711G>T (p.Ala4237=) c.12741G>T (p.Ala4247=)	ClinVar gnomAD v4
19	g.38565079C>A	CA405671062	RYR1	c.1155C>A c.1137C>A c.12745C>A (p.Gln4249Lys) c.12730C>A (p.Gln4244Lys) c.12727C>A (p.Gln4243Lys) c.6114C>A c.12712C>A (p.Gln4238Lys) c.12742C>A (p.Gln4248Lys)	gnomAD v4
19	g.38565079C>G	CA405671061	RYR1	c.1155C>G c.1137C>G c.12745C>G (p.Gln4249Glu) c.12730C>G (p.Gln4244Glu) c.12727C>G (p.Gln4243Glu) c.6114C>G c.12712C>G (p.Gln4238Glu) c.12742C>G (p.Gln4248Glu)
19	g.38565079C>T	CA405671060	RYR1	c.1155C>T c.1137C>T c.12745C>T (p.Gln4249Ter) c.12730C>T (p.Gln4244Ter) c.12727C>T (p.Gln4243Ter) c.6114C>T c.12712C>T (p.Gln4238Ter) c.12742C>T (p.Gln4248Ter)	gnomAD v4
19	g.38565080A=	CA2335084620	RYR1	c.1156A= c.1138A= c.12746A= (p.Gln4249=) c.12731A= (p.Gln4244=) c.12728A= (p.Gln4243=) c.6115A= c.12713A= (p.Gln4238=) c.12743A= (p.Gln4248=)
19	g.38565080A>C	CA405671063	RYR1	c.1156A>C c.1138A>C c.12746A>C (p.Gln4249Pro) c.12731A>C (p.Gln4244Pro) c.12728A>C (p.Gln4243Pro) c.6115A>C c.12713A>C (p.Gln4238Pro) c.12743A>C (p.Gln4248Pro)	dbSNP
19	g.38565080A>G	CA059379	RYR1	c.1156A>G c.1138A>G c.12746A>G (p.Gln4249Arg) c.12731A>G (p.Gln4244Arg) c.12728A>G (p.Gln4243Arg) c.6115A>G c.12713A>G (p.Gln4238Arg) c.12743A>G (p.Gln4248Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565080A>T	CA405671064	RYR1	c.1156A>T c.1138A>T c.12746A>T (p.Gln4249Leu) c.12731A>T (p.Gln4244Leu) c.12728A>T (p.Gln4243Leu) c.6115A>T c.12713A>T (p.Gln4238Leu) c.12743A>T (p.Gln4248Leu)
19	g.38565081G>A	CA507355518	RYR1	c.1157G>A c.1139G>A c.12747G>A (p.Gln4249=) c.12732G>A (p.Gln4244=) c.12729G>A (p.Gln4243=) c.6116G>A c.12714G>A (p.Gln4238=) c.12744G>A (p.Gln4248=)
19	g.38565081G>C	CA405671065	RYR1	c.1157G>C c.1139G>C c.12747G>C (p.Gln4249His) c.12732G>C (p.Gln4244His) c.12729G>C (p.Gln4243His) c.6116G>C c.12714G>C (p.Gln4238His) c.12744G>C (p.Gln4248His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565081G=	CA2335084621	RYR1	c.1157G= c.1139G= c.12747G= (p.Gln4249=) c.12732G= (p.Gln4244=) c.12729G= (p.Gln4243=) c.6116G= c.12714G= (p.Gln4238=) c.12744G= (p.Gln4248=)
19	g.38565081G>T	CA405671066	RYR1	c.1157G>T c.1139G>T c.12747G>T (p.Gln4249His) c.12732G>T (p.Gln4244His) c.12729G>T (p.Gln4243His) c.6116G>T c.12714G>T (p.Gln4238His) c.12744G>T (p.Gln4248His)	gnomAD v4
19	g.38565082A=	CA2335084622	RYR1	c.1158A= c.1140A= c.12748A= (p.Ile4250=) c.12733A= (p.Ile4245=) c.12730A= (p.Ile4244=) c.6117A= c.12715A= (p.Ile4239=) c.12745A= (p.Ile4249=)
19	g.38565082A>C	CA405671067	RYR1	c.1158A>C c.1140A>C c.12748A>C (p.Ile4250Leu) c.12733A>C (p.Ile4245Leu) c.12730A>C (p.Ile4244Leu) c.6117A>C c.12715A>C (p.Ile4239Leu) c.12745A>C (p.Ile4249Leu)
19	g.38565082A>G	CA405671068	RYR1	c.1158A>G c.1140A>G c.12748A>G (p.Ile4250Val) c.12733A>G (p.Ile4245Val) c.12730A>G (p.Ile4244Val) c.6117A>G c.12715A>G (p.Ile4239Val) c.12745A>G (p.Ile4249Val)
19	g.38565082A>T	CA059388	RYR1	c.1158A>T c.1140A>T c.12748A>T (p.Ile4250Phe) c.12733A>T (p.Ile4245Phe) c.12730A>T (p.Ile4244Phe) c.6117A>T c.12715A>T (p.Ile4239Phe) c.12745A>T (p.Ile4249Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565083T>A	CA405671069	RYR1	c.1159T>A c.1141T>A c.12749T>A (p.Ile4250Asn) c.12734T>A (p.Ile4245Asn) c.12731T>A (p.Ile4244Asn) c.6118T>A c.12716T>A (p.Ile4239Asn) c.12746T>A (p.Ile4249Asn)	gnomAD v4
19	g.38565083T>C	CA405671070	RYR1	c.1159T>C c.1141T>C c.12749T>C (p.Ile4250Thr) c.12734T>C (p.Ile4245Thr) c.12731T>C (p.Ile4244Thr) c.6118T>C c.12716T>C (p.Ile4239Thr) c.12746T>C (p.Ile4249Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565083T>G	CA405671071	RYR1	c.1159T>G c.1141T>G c.12749T>G (p.Ile4250Ser) c.12734T>G (p.Ile4245Ser) c.12731T>G (p.Ile4244Ser) c.6118T>G c.12716T>G (p.Ile4239Ser) c.12746T>G (p.Ile4249Ser)
19	g.38565083T=	CA2335084623	RYR1	c.1159T= c.1141T= c.12749T= (p.Ile4250=) c.12734T= (p.Ile4245=) c.12731T= (p.Ile4244=) c.6118T= c.12716T= (p.Ile4239=) c.12746T= (p.Ile4249=)
19	g.38565084C>A	CA059395	RYR1	c.1160C>A c.1142C>A c.12750C>A (p.Ile4250=) c.12735C>A (p.Ile4245=) c.12732C>A (p.Ile4244=) c.6119C>A c.12717C>A (p.Ile4239=) c.12747C>A (p.Ile4249=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565084C=	CA2335084624	RYR1	c.1160C= c.1142C= c.12750C= (p.Ile4250=) c.12735C= (p.Ile4245=) c.12732C= (p.Ile4244=) c.6119C= c.12717C= (p.Ile4239=) c.12747C= (p.Ile4249=)
19	g.38565084C>G	CA405671072	RYR1	c.1160C>G c.1142C>G c.12750C>G (p.Ile4250Met) c.12735C>G (p.Ile4245Met) c.12732C>G (p.Ile4244Met) c.6119C>G c.12717C>G (p.Ile4239Met) c.12747C>G (p.Ile4249Met)
19	g.38565084C>T	CA308109119	RYR1	c.1160C>T c.1142C>T c.12750C>T (p.Ile4250=) c.12735C>T (p.Ile4245=) c.12732C>T (p.Ile4244=) c.6119C>T c.12717C>T (p.Ile4239=) c.12747C>T (p.Ile4249=)	ClinVar dbSNP gnomAD v4
19	g.38565085T>A	CA405671075	RYR1	c.1161T>A c.1143T>A c.12751T>A (p.Ser4251Thr) c.12736T>A (p.Ser4246Thr) c.12733T>A (p.Ser4245Thr) c.6120T>A c.12718T>A (p.Ser4240Thr) c.12748T>A (p.Ser4250Thr)
19	g.38565085T>C	CA405671074	RYR1	c.1161T>C c.1143T>C c.12751T>C (p.Ser4251Pro) c.12736T>C (p.Ser4246Pro) c.12733T>C (p.Ser4245Pro) c.6120T>C c.12718T>C (p.Ser4240Pro) c.12748T>C (p.Ser4250Pro)	gnomAD v4
19	g.38565085T>G	CA405671073	RYR1	c.1161T>G c.1143T>G c.12751T>G (p.Ser4251Ala) c.12736T>G (p.Ser4246Ala) c.12733T>G (p.Ser4245Ala) c.6120T>G c.12718T>G (p.Ser4240Ala) c.12748T>G (p.Ser4250Ala)
19	g.38565086C>A	CA405671076	RYR1	c.1162C>A c.1144C>A c.12752C>A (p.Ser4251Ter) c.12737C>A (p.Ser4246Ter) c.12734C>A (p.Ser4245Ter) c.6121C>A c.12719C>A (p.Ser4240Ter) c.12749C>A (p.Ser4250Ter)	gnomAD v4
19	g.38565086C=	CA2335084625	RYR1	c.1162C= c.1144C= c.12752C= (p.Ser4251=) c.12737C= (p.Ser4246=) c.12734C= (p.Ser4245=) c.6121C= c.12719C= (p.Ser4240=) c.12749C= (p.Ser4250=)
19	g.38565086C>G	CA405671077	RYR1	c.1162C>G c.1144C>G c.12752C>G (p.Ser4251Trp) c.12737C>G (p.Ser4246Trp) c.12734C>G (p.Ser4245Trp) c.6121C>G c.12719C>G (p.Ser4240Trp) c.12749C>G (p.Ser4250Trp)	ClinVar dbSNP
19	g.38565086C>T	CA308109126	RYR1	c.1162C>T c.1144C>T c.12752C>T (p.Ser4251Leu) c.12737C>T (p.Ser4246Leu) c.12734C>T (p.Ser4245Leu) c.6121C>T c.12719C>T (p.Ser4240Leu) c.12749C>T (p.Ser4250Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565087G>A	CA507355530	RYR1	c.1163G>A c.1145G>A c.12753G>A (p.Ser4251=) c.12738G>A (p.Ser4246=) c.12735G>A (p.Ser4245=) c.6122G>A c.12720G>A (p.Ser4240=) c.12750G>A (p.Ser4250=)	gnomAD v4
19	g.38565087G>C	CA507355532	RYR1	c.1163G>C c.1145G>C c.12753G>C (p.Ser4251=) c.12738G>C (p.Ser4246=) c.12735G>C (p.Ser4245=) c.6122G>C c.12720G>C (p.Ser4240=) c.12750G>C (p.Ser4250=)
19	g.38565087G>T	CA507355534	RYR1	c.1163G>T c.1145G>T c.12753G>T (p.Ser4251=) c.12738G>T (p.Ser4246=) c.12735G>T (p.Ser4245=) c.6122G>T c.12720G>T (p.Ser4240=) c.12750G>T (p.Ser4250=)	gnomAD v4
19	g.38565088G>A	CA405671078	RYR1	c.1164G>A c.1146G>A c.12754G>A (p.Glu4252Lys) c.12739G>A (p.Glu4247Lys) c.12736G>A (p.Glu4246Lys) c.6123G>A c.12721G>A (p.Glu4241Lys) c.12751G>A (p.Glu4251Lys)
19	g.38565088G>C	CA405671079	RYR1	c.1164G>C c.1146G>C c.12754G>C (p.Glu4252Gln) c.12739G>C (p.Glu4247Gln) c.12736G>C (p.Glu4246Gln) c.6123G>C c.12721G>C (p.Glu4241Gln) c.12751G>C (p.Glu4251Gln)	ClinVar dbSNP gnomAD v4
19	g.38565088G=	CA2335084626	RYR1	c.1164G= c.1146G= c.12754G= (p.Glu4252=) c.12739G= (p.Glu4247=) c.12736G= (p.Glu4246=) c.6123G= c.12721G= (p.Glu4241=) c.12751G= (p.Glu4251=)
19	g.38565088G>T	CA405671080	RYR1	c.1164G>T c.1146G>T c.12754G>T (p.Glu4252Ter) c.12739G>T (p.Glu4247Ter) c.12736G>T (p.Glu4246Ter) c.6123G>T c.12721G>T (p.Glu4241Ter) c.12751G>T (p.Glu4251Ter)	gnomAD v4
19	g.38565089A>C	CA405671081	RYR1	c.1165A>C c.1147A>C c.12755A>C (p.Glu4252Ala) c.12740A>C (p.Glu4247Ala) c.12737A>C (p.Glu4246Ala) c.6124A>C c.12722A>C (p.Glu4241Ala) c.12752A>C (p.Glu4251Ala)
19	g.38565089A>G	CA405671082	RYR1	c.1165A>G c.1147A>G c.12755A>G (p.Glu4252Gly) c.12740A>G (p.Glu4247Gly) c.12737A>G (p.Glu4246Gly) c.6124A>G c.12722A>G (p.Glu4241Gly) c.12752A>G (p.Glu4251Gly)	gnomAD v4
19	g.38565089A>T	CA405671083	RYR1	c.1165A>T c.1147A>T c.12755A>T (p.Glu4252Val) c.12740A>T (p.Glu4247Val) c.12737A>T (p.Glu4246Val) c.6124A>T c.12722A>T (p.Glu4241Val) c.12752A>T (p.Glu4251Val)
19	g.38565090G>A	CA507355540	RYR1	c.1166G>A c.1148G>A c.12756G>A (p.Glu4252=) c.12741G>A (p.Glu4247=) c.12738G>A (p.Glu4246=) c.6125G>A c.12723G>A (p.Glu4241=) c.12753G>A (p.Glu4251=)	gnomAD v4
19	g.38565090G>C	CA405671084	RYR1	c.1166G>C c.1148G>C c.12756G>C (p.Glu4252Asp) c.12741G>C (p.Glu4247Asp) c.12738G>C (p.Glu4246Asp) c.6125G>C c.12723G>C (p.Glu4241Asp) c.12753G>C (p.Glu4251Asp)
19	g.38565090G>T	CA405671085	RYR1	c.1166G>T c.1148G>T c.12756G>T (p.Glu4252Asp) c.12741G>T (p.Glu4247Asp) c.12738G>T (p.Glu4246Asp) c.6125G>T c.12723G>T (p.Glu4241Asp) c.12753G>T (p.Glu4251Asp)	gnomAD v4
19	g.38565091C>A	CA405671088	RYR1	c.1167C>A c.1149C>A c.12757C>A (p.Pro4253Thr) c.12742C>A (p.Pro4248Thr) c.12739C>A (p.Pro4247Thr) c.6126C>A c.12724C>A (p.Pro4242Thr) c.12754C>A (p.Pro4252Thr)	gnomAD v4
19	g.38565091C=	CA2335084627	RYR1	c.1167C= c.1149C= c.12757C= (p.Pro4253=) c.12742C= (p.Pro4248=) c.12739C= (p.Pro4247=) c.6126C= c.12724C= (p.Pro4242=) c.12754C= (p.Pro4252=)
19	g.38565091C>G	CA405671087	RYR1	c.1167C>G c.1149C>G c.12757C>G (p.Pro4253Ala) c.12742C>G (p.Pro4248Ala) c.12739C>G (p.Pro4247Ala) c.6126C>G c.12724C>G (p.Pro4242Ala) c.12754C>G (p.Pro4252Ala)	dbSNP
19	g.38565091C>T	CA405671086	RYR1	c.1167C>T c.1149C>T c.12757C>T (p.Pro4253Ser) c.12742C>T (p.Pro4248Ser) c.12739C>T (p.Pro4247Ser) c.6126C>T c.12724C>T (p.Pro4242Ser) c.12754C>T (p.Pro4252Ser)	gnomAD v4
19	g.38565093dup	CA2814346027	RYR1	c.1169dup c.1151dup c.12759dup (p.Glu4254ArgfsTer?) c.12744dup (p.Glu4249ArgfsTer?) c.12741dup (p.Glu4248ArgfsTer?) c.6128dup c.12726dup (p.Glu4243ArgfsTer?) c.12756dup (p.Glu4253ArgfsTer?)
19	g.38565093del	CA2580097177	RYR1	c.1169del c.1151del c.12759del (p.Glu4254ArgfsTer?) c.12744del (p.Glu4249ArgfsTer?) c.12741del (p.Glu4248ArgfsTer?) c.6128del c.12726del (p.Glu4243ArgfsTer?) c.12756del (p.Glu4253ArgfsTer?)	ClinVar
19	g.38565092C>A	CA405671089	RYR1	c.1168C>A c.1150C>A c.12758C>A (p.Pro4253His) c.12743C>A (p.Pro4248His) c.12740C>A (p.Pro4247His) c.6127C>A c.12725C>A (p.Pro4242His) c.12755C>A (p.Pro4252His)	dbSNP gnomAD v4
19	g.38565092C=	CA2335084629	RYR1	c.1168C= c.1150C= c.12758C= (p.Pro4253=) c.12743C= (p.Pro4248=) c.12740C= (p.Pro4247=) c.6127C= c.12725C= (p.Pro4242=) c.12755C= (p.Pro4252=)
19	g.38565092C>G	CA405671090	RYR1	c.1168C>G c.1150C>G c.12758C>G (p.Pro4253Arg) c.12743C>G (p.Pro4248Arg) c.12740C>G (p.Pro4247Arg) c.6127C>G c.12725C>G (p.Pro4242Arg) c.12755C>G (p.Pro4252Arg)	gnomAD v4
19	g.38565092C>T	CA405671091	RYR1	c.1168C>T c.1150C>T c.12758C>T (p.Pro4253Leu) c.12743C>T (p.Pro4248Leu) c.12740C>T (p.Pro4247Leu) c.6127C>T c.12725C>T (p.Pro4242Leu) c.12755C>T (p.Pro4252Leu)
19	g.38565092_38565119delinsCCGAGGGCGAGCCGGAGACCGACGAGGA	CA2335084628	RYR1	c.1168_1195delinsCCGAGGGCGAGCCGGAGACCGACGAGGA c.1150_1177delinsCCGAGGGCGAGCCGGAGACCGACGAGGA c.12758_12785delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4253=) c.12743_12770delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4248=) c.12740_12767delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4247=) c.6127_6154delinsCCGAGGGCGAGCCGGAGACCGACGAGGA c.12725_12752delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4242=) c.12755_12782delinsCCGAGGGCGAGCCGGAGACCGACGAGGA (p.Pro4252=)
19	g.38565093C>A	CA507355550	RYR1	c.1169C>A c.1151C>A c.12759C>A (p.Pro4253=) c.12744C>A (p.Pro4248=) c.12741C>A (p.Pro4247=) c.6128C>A c.12726C>A (p.Pro4242=) c.12756C>A (p.Pro4252=)	gnomAD v4
19	g.38565093C=	CA2335084630	RYR1	c.1169C= c.1151C= c.12759C= (p.Pro4253=) c.12744C= (p.Pro4248=) c.12741C= (p.Pro4247=) c.6128C= c.12726C= (p.Pro4242=) c.12756C= (p.Pro4252=)
19	g.38565093C>G	CA507355549	RYR1	c.1169C>G c.1151C>G c.12759C>G (p.Pro4253=) c.12744C>G (p.Pro4248=) c.12741C>G (p.Pro4247=) c.6128C>G c.12726C>G (p.Pro4242=) c.12756C>G (p.Pro4252=)
19	g.38565093C>T	CA10587331	RYR1	c.1169C>T c.1151C>T c.12759C>T (p.Pro4253=) c.12744C>T (p.Pro4248=) c.12741C>T (p.Pro4247=) c.6128C>T c.12726C>T (p.Pro4242=) c.12756C>T (p.Pro4252=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.38565093_38565123del	CA2573156310	RYR1	c.1169_1199del c.1151_1181del c.12759_12789del (p.Glu4254AlafsTer?) c.12744_12774del (p.Glu4249AlafsTer?) c.12741_12771del (p.Glu4248AlafsTer?) c.6128_6158del c.12726_12756del (p.Glu4243AlafsTer?) c.12756_12786del (p.Glu4253AlafsTer?)	dbSNP
19	g.38565101_38565127del	CA633066811	RYR1	c.1177_1203del c.1159_1185del c.12767_12793del (p.Glu4256_Gly4264del) c.12752_12778del (p.Glu4251_Gly4259del) c.12749_12775del (p.Glu4250_Gly4258del) c.6136_6162del c.12734_12760del (p.Glu4245_Gly4253del) c.12764_12790del (p.Glu4255_Gly4263del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565094G>A	CA405671092	RYR1	c.1170G>A c.1152G>A c.12760G>A (p.Glu4254Lys) c.12745G>A (p.Glu4249Lys) c.12742G>A (p.Glu4248Lys) c.6129G>A c.12727G>A (p.Glu4243Lys) c.12757G>A (p.Glu4253Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565094G>C	CA405671093	RYR1	c.1170G>C c.1152G>C c.12760G>C (p.Glu4254Gln) c.12745G>C (p.Glu4249Gln) c.12742G>C (p.Glu4248Gln) c.6129G>C c.12727G>C (p.Glu4243Gln) c.12757G>C (p.Glu4253Gln)	gnomAD v4
19	g.38565094G=	CA2335084631	RYR1	c.1170G= c.1152G= c.12760G= (p.Glu4254=) c.12745G= (p.Glu4249=) c.12742G= (p.Glu4248=) c.6129G= c.12727G= (p.Glu4243=) c.12757G= (p.Glu4253=)
19	g.38565094G>T	CA405671094	RYR1	c.1170G>T c.1152G>T c.12760G>T (p.Glu4254Ter) c.12745G>T (p.Glu4249Ter) c.12742G>T (p.Glu4248Ter) c.6129G>T c.12727G>T (p.Glu4243Ter) c.12757G>T (p.Glu4253Ter)	gnomAD v4
19	g.38565095A>C	CA405671095	RYR1	c.1171A>C c.1153A>C c.12761A>C (p.Glu4254Ala) c.12746A>C (p.Glu4249Ala) c.12743A>C (p.Glu4248Ala) c.6130A>C c.12728A>C (p.Glu4243Ala) c.12758A>C (p.Glu4253Ala)
19	g.38565095A>G	CA405671096	RYR1	c.1171A>G c.1153A>G c.12761A>G (p.Glu4254Gly) c.12746A>G (p.Glu4249Gly) c.12743A>G (p.Glu4248Gly) c.6130A>G c.12728A>G (p.Glu4243Gly) c.12758A>G (p.Glu4253Gly)	gnomAD v4
19	g.38565095A>T	CA405671097	RYR1	c.1171A>T c.1153A>T c.12761A>T (p.Glu4254Val) c.12746A>T (p.Glu4249Val) c.12743A>T (p.Glu4248Val) c.6130A>T c.12728A>T (p.Glu4243Val) c.12758A>T (p.Glu4253Val)
19	g.38565096G>A	CA507355555	RYR1	c.1172G>A c.1154G>A c.12762G>A (p.Glu4254=) c.12747G>A (p.Glu4249=) c.12744G>A (p.Glu4248=) c.6131G>A c.12729G>A (p.Glu4243=) c.12759G>A (p.Glu4253=)	gnomAD v4
19	g.38565096G>C	CA405671098	RYR1	c.1172G>C c.1154G>C c.12762G>C (p.Glu4254Asp) c.12747G>C (p.Glu4249Asp) c.12744G>C (p.Glu4248Asp) c.6131G>C c.12729G>C (p.Glu4243Asp) c.12759G>C (p.Glu4253Asp)	gnomAD v4
19	g.38565096G>T	CA405671099	RYR1	c.1172G>T c.1154G>T c.12762G>T (p.Glu4254Asp) c.12747G>T (p.Glu4249Asp) c.12744G>T (p.Glu4248Asp) c.6131G>T c.12729G>T (p.Glu4243Asp) c.12759G>T (p.Glu4253Asp)	gnomAD v4
19	g.38565098del	CA2584909109	RYR1	c.1174del c.1156del c.12764del (p.Gly4255AlafsTer?) c.12749del (p.Gly4250AlafsTer?) c.12746del (p.Gly4249AlafsTer?) c.6133del c.12731del (p.Gly4244AlafsTer?) c.12761del (p.Gly4254AlafsTer?)	gnomAD v4
19	g.38565097G>A	CA405671102	RYR1	c.1173G>A c.1155G>A c.12763G>A (p.Gly4255Ser) c.12748G>A (p.Gly4250Ser) c.12745G>A (p.Gly4249Ser) c.6132G>A c.12730G>A (p.Gly4244Ser) c.12760G>A (p.Gly4254Ser)	ClinVar dbSNP gnomAD v4
19	g.38565097G>C	CA405671101	RYR1	c.1173G>C c.1155G>C c.12763G>C (p.Gly4255Arg) c.12748G>C (p.Gly4250Arg) c.12745G>C (p.Gly4249Arg) c.6132G>C c.12730G>C (p.Gly4244Arg) c.12760G>C (p.Gly4254Arg)
19	g.38565097G=	CA2335084632	RYR1	c.1173G= c.1155G= c.12763G= (p.Gly4255=) c.12748G= (p.Gly4250=) c.12745G= (p.Gly4249=) c.6132G= c.12730G= (p.Gly4244=) c.12760G= (p.Gly4254=)
19	g.38565097G>T	CA405671100	RYR1	c.1173G>T c.1155G>T c.12763G>T (p.Gly4255Cys) c.12748G>T (p.Gly4250Cys) c.12745G>T (p.Gly4249Cys) c.6132G>T c.12730G>T (p.Gly4244Cys) c.12760G>T (p.Gly4254Cys)	gnomAD v4
19	g.38565098G>A	CA405671103	RYR1	c.1174G>A c.1156G>A c.12764G>A (p.Gly4255Asp) c.12749G>A (p.Gly4250Asp) c.12746G>A (p.Gly4249Asp) c.6133G>A c.12731G>A (p.Gly4244Asp) c.12761G>A (p.Gly4254Asp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565098G>C	CA405671104	RYR1	c.1174G>C c.1156G>C c.12764G>C (p.Gly4255Ala) c.12749G>C (p.Gly4250Ala) c.12746G>C (p.Gly4249Ala) c.6133G>C c.12731G>C (p.Gly4244Ala) c.12761G>C (p.Gly4254Ala)
19	g.38565098G=	CA2335084633	RYR1	c.1174G= c.1156G= c.12764G= (p.Gly4255=) c.12749G= (p.Gly4250=) c.12746G= (p.Gly4249=) c.6133G= c.12731G= (p.Gly4244=) c.12761G= (p.Gly4254=)
19	g.38565098G>T	CA405671105	RYR1	c.1174G>T c.1156G>T c.12764G>T (p.Gly4255Val) c.12749G>T (p.Gly4250Val) c.12746G>T (p.Gly4249Val) c.6133G>T c.12731G>T (p.Gly4244Val) c.12761G>T (p.Gly4254Val)	gnomAD v4
19	g.38565099C>A	CA507355562	RYR1	c.1175C>A c.1157C>A c.12765C>A (p.Gly4255=) c.12750C>A (p.Gly4250=) c.12747C>A (p.Gly4249=) c.6134C>A c.12732C>A (p.Gly4244=) c.12762C>A (p.Gly4254=)	gnomAD v4
19	g.38565099C=	CA2335084634	RYR1	c.1175C= c.1157C= c.12765C= (p.Gly4255=) c.12750C= (p.Gly4250=) c.12747C= (p.Gly4249=) c.6134C= c.12732C= (p.Gly4244=) c.12762C= (p.Gly4254=)
19	g.38565099C>G	CA059410	RYR1	c.1175C>G c.1157C>G c.12765C>G (p.Gly4255=) c.12750C>G (p.Gly4250=) c.12747C>G (p.Gly4249=) c.6134C>G c.12732C>G (p.Gly4244=) c.12762C>G (p.Gly4254=)	dbSNP ExAC gnomAD v4
19	g.38565099C>T	CA507355563	RYR1	c.1175C>T c.1157C>T c.12765C>T (p.Gly4255=) c.12750C>T (p.Gly4250=) c.12747C>T (p.Gly4249=) c.6134C>T c.12732C>T (p.Gly4244=) c.12762C>T (p.Gly4254=)	ClinVar gnomAD v4
19	g.38565100G>A	CA405671106	RYR1	c.1176G>A c.1158G>A c.12766G>A (p.Glu4256Lys) c.12751G>A (p.Glu4251Lys) c.12748G>A (p.Glu4250Lys) c.6135G>A c.12733G>A (p.Glu4245Lys) c.12763G>A (p.Glu4255Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565100G>C	CA405671107	RYR1	c.1176G>C c.1158G>C c.12766G>C (p.Glu4256Gln) c.12751G>C (p.Glu4251Gln) c.12748G>C (p.Glu4250Gln) c.6135G>C c.12733G>C (p.Glu4245Gln) c.12763G>C (p.Glu4255Gln)	gnomAD v4
19	g.38565100G=	CA2335084635	RYR1	c.1176G= c.1158G= c.12766G= (p.Glu4256=) c.12751G= (p.Glu4251=) c.12748G= (p.Glu4250=) c.6135G= c.12733G= (p.Glu4245=) c.12763G= (p.Glu4255=)
19	g.38565100G>T	CA059417	RYR1	c.1176G>T c.1158G>T c.12766G>T (p.Glu4256Ter) c.12751G>T (p.Glu4251Ter) c.12748G>T (p.Glu4250Ter) c.6135G>T c.12733G>T (p.Glu4245Ter) c.12763G>T (p.Glu4255Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565101A>C	CA405671108	RYR1	c.1177A>C c.1159A>C c.12767A>C (p.Glu4256Ala) c.12752A>C (p.Glu4251Ala) c.12749A>C (p.Glu4250Ala) c.6136A>C c.12734A>C (p.Glu4245Ala) c.12764A>C (p.Glu4255Ala)
19	g.38565101A>G	CA405671109	RYR1	c.1177A>G c.1159A>G c.12767A>G (p.Glu4256Gly) c.12752A>G (p.Glu4251Gly) c.12749A>G (p.Glu4250Gly) c.6136A>G c.12734A>G (p.Glu4245Gly) c.12764A>G (p.Glu4255Gly)
19	g.38565101A>T	CA405671110	RYR1	c.1177A>T c.1159A>T c.12767A>T (p.Glu4256Val) c.12752A>T (p.Glu4251Val) c.12749A>T (p.Glu4250Val) c.6136A>T c.12734A>T (p.Glu4245Val) c.12764A>T (p.Glu4255Val)
19	g.38565102G>A	CA507355571	RYR1	c.1178G>A c.1160G>A c.12768G>A (p.Glu4256=) c.12753G>A (p.Glu4251=) c.12750G>A (p.Glu4250=) c.6137G>A c.12735G>A (p.Glu4245=) c.12765G>A (p.Glu4255=)	gnomAD v4
19	g.38565102G>C	CA405671111	RYR1	c.1178G>C c.1160G>C c.12768G>C (p.Glu4256Asp) c.12753G>C (p.Glu4251Asp) c.12750G>C (p.Glu4250Asp) c.6137G>C c.12735G>C (p.Glu4245Asp) c.12765G>C (p.Glu4255Asp)
19	g.38565102G=	CA2335084636	RYR1	c.1178G= c.1160G= c.12768G= (p.Glu4256=) c.12753G= (p.Glu4251=) c.12750G= (p.Glu4250=) c.6137G= c.12735G= (p.Glu4245=) c.12765G= (p.Glu4255=)
19	g.38565102G>T	CA405671112	RYR1	c.1178G>T c.1160G>T c.12768G>T (p.Glu4256Asp) c.12753G>T (p.Glu4251Asp) c.12750G>T (p.Glu4250Asp) c.6137G>T c.12735G>T (p.Glu4245Asp) c.12765G>T (p.Glu4255Asp)	gnomAD v4
19	g.38565103_38565112del	CA2573156311	RYR1	c.1179_1188del c.1161_1170del c.12769_12778del (p.Pro4257ThrfsTer?) c.12754_12763del (p.Pro4252ThrfsTer?) c.12751_12760del (p.Pro4251ThrfsTer?) c.6138_6147del c.12736_12745del (p.Pro4246ThrfsTer?) c.12766_12775del (p.Pro4256ThrfsTer?)	ClinVar dbSNP
19	g.38565103C>A	CA405671115	RYR1	c.1179C>A c.1161C>A c.12769C>A (p.Pro4257Thr) c.12754C>A (p.Pro4252Thr) c.12751C>A (p.Pro4251Thr) c.6138C>A c.12736C>A (p.Pro4246Thr) c.12766C>A (p.Pro4256Thr)	gnomAD v4
19	g.38565103C=	CA2335084637	RYR1	c.1179C= c.1161C= c.12769C= (p.Pro4257=) c.12754C= (p.Pro4252=) c.12751C= (p.Pro4251=) c.6138C= c.12736C= (p.Pro4246=) c.12766C= (p.Pro4256=)
19	g.38565103C>G	CA405671113	RYR1	c.1179C>G c.1161C>G c.12769C>G (p.Pro4257Ala) c.12754C>G (p.Pro4252Ala) c.12751C>G (p.Pro4251Ala) c.6138C>G c.12736C>G (p.Pro4246Ala) c.12766C>G (p.Pro4256Ala)
19	g.38565103C>T	CA405671114	RYR1	c.1179C>T c.1161C>T c.12769C>T (p.Pro4257Ser) c.12754C>T (p.Pro4252Ser) c.12751C>T (p.Pro4251Ser) c.6138C>T c.12736C>T (p.Pro4246Ser) c.12766C>T (p.Pro4256Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565106_38565112dup	CA633066812	RYR1	c.1182_1188dup c.1164_1170dup c.12772_12778dup (p.Asp4260GlyfsTer?) c.12757_12763dup (p.Asp4255GlyfsTer?) c.12754_12760dup (p.Asp4254GlyfsTer?) c.6141_6147dup c.12739_12745dup (p.Asp4249GlyfsTer?) c.12769_12775dup (p.Asp4259GlyfsTer?)	dbSNP gnomAD v2 gnomAD v4
19	g.38565104C>A	CA405671116	RYR1	c.1180C>A c.1162C>A c.12770C>A (p.Pro4257Gln) c.12755C>A (p.Pro4252Gln) c.12752C>A (p.Pro4251Gln) c.6139C>A c.12737C>A (p.Pro4246Gln) c.12767C>A (p.Pro4256Gln)	gnomAD v4
19	g.38565104C=	CA2335084638	RYR1	c.1180C= c.1162C= c.12770C= (p.Pro4257=) c.12755C= (p.Pro4252=) c.12752C= (p.Pro4251=) c.6139C= c.12737C= (p.Pro4246=) c.12767C= (p.Pro4256=)
19	g.38565104C>G	CA405671118	RYR1	c.1180C>G c.1162C>G c.12770C>G (p.Pro4257Arg) c.12755C>G (p.Pro4252Arg) c.12752C>G (p.Pro4251Arg) c.6139C>G c.12737C>G (p.Pro4246Arg) c.12767C>G (p.Pro4256Arg)	dbSNP gnomAD v2 gnomAD v4
19	g.38565104C>T	CA405671117	RYR1	c.1180C>T c.1162C>T c.12770C>T (p.Pro4257Leu) c.12755C>T (p.Pro4252Leu) c.12752C>T (p.Pro4251Leu) c.6139C>T c.12737C>T (p.Pro4246Leu) c.12767C>T (p.Pro4256Leu)	ClinVar dbSNP gnomAD v4
19	g.38565105G>A	CA507355575	RYR1	c.1181G>A c.1163G>A c.12771G>A (p.Pro4257=) c.12756G>A (p.Pro4252=) c.12753G>A (p.Pro4251=) c.6140G>A c.12738G>A (p.Pro4246=) c.12768G>A (p.Pro4256=)	dbSNP gnomAD v4
19	g.38565105G>C	CA507355576	RYR1	c.1181G>C c.1163G>C c.12771G>C (p.Pro4257=) c.12756G>C (p.Pro4252=) c.12753G>C (p.Pro4251=) c.6140G>C c.12738G>C (p.Pro4246=) c.12768G>C (p.Pro4256=)
19	g.38565105G=	CA2335084639	RYR1	c.1181G= c.1163G= c.12771G= (p.Pro4257=) c.12756G= (p.Pro4252=) c.12753G= (p.Pro4251=) c.6140G= c.12738G= (p.Pro4246=) c.12768G= (p.Pro4256=)
19	g.38565105G>T	CA507355577	RYR1	c.1181G>T c.1163G>T c.12771G>T (p.Pro4257=) c.12756G>T (p.Pro4252=) c.12753G>T (p.Pro4251=) c.6140G>T c.12738G>T (p.Pro4246=) c.12768G>T (p.Pro4256=)	gnomAD v4
19	g.38565106G>A	CA405671119	RYR1	c.1182G>A c.1164G>A c.12772G>A (p.Glu4258Lys) c.12757G>A (p.Glu4253Lys) c.12754G>A (p.Glu4252Lys) c.6141G>A c.12739G>A (p.Glu4247Lys) c.12769G>A (p.Glu4257Lys)	gnomAD v4
19	g.38565106G>C	CA405671121	RYR1	c.1182G>C c.1164G>C c.12772G>C (p.Glu4258Gln) c.12757G>C (p.Glu4253Gln) c.12754G>C (p.Glu4252Gln) c.6141G>C c.12739G>C (p.Glu4247Gln) c.12769G>C (p.Glu4257Gln)
19	g.38565106G>T	CA405671120	RYR1	c.1182G>T c.1164G>T c.12772G>T (p.Glu4258Ter) c.12757G>T (p.Glu4253Ter) c.12754G>T (p.Glu4252Ter) c.6141G>T c.12739G>T (p.Glu4247Ter) c.12769G>T (p.Glu4257Ter)	gnomAD v4
19	g.38565107A=	CA2335084640	RYR1	c.1183A= c.1165A= c.12773A= (p.Glu4258=) c.12758A= (p.Glu4253=) c.12755A= (p.Glu4252=) c.6142A= c.12740A= (p.Glu4247=) c.12770A= (p.Glu4257=)
19	g.38565107A>C	CA405671122	RYR1	c.1183A>C c.1165A>C c.12773A>C (p.Glu4258Ala) c.12758A>C (p.Glu4253Ala) c.12755A>C (p.Glu4252Ala) c.6142A>C c.12740A>C (p.Glu4247Ala) c.12770A>C (p.Glu4257Ala)
19	g.38565107A>G	CA059421	RYR1	c.1183A>G c.1165A>G c.12773A>G (p.Glu4258Gly) c.12758A>G (p.Glu4253Gly) c.12755A>G (p.Glu4252Gly) c.6142A>G c.12740A>G (p.Glu4247Gly) c.12770A>G (p.Glu4257Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565107A>T	CA405671123	RYR1	c.1183A>T c.1165A>T c.12773A>T (p.Glu4258Val) c.12758A>T (p.Glu4253Val) c.12755A>T (p.Glu4252Val) c.6142A>T c.12740A>T (p.Glu4247Val) c.12770A>T (p.Glu4257Val)
19	g.38565108G>A	CA507355578	RYR1	c.1184G>A c.1166G>A c.12774G>A (p.Glu4258=) c.12759G>A (p.Glu4253=) c.12756G>A (p.Glu4252=) c.6143G>A c.12741G>A (p.Glu4247=) c.12771G>A (p.Glu4257=)
19	g.38565108G>C	CA405671124	RYR1	c.1184G>C c.1166G>C c.12774G>C (p.Glu4258Asp) c.12759G>C (p.Glu4253Asp) c.12756G>C (p.Glu4252Asp) c.6143G>C c.12741G>C (p.Glu4247Asp) c.12771G>C (p.Glu4257Asp)
19	g.38565108G>T	CA405671125	RYR1	c.1184G>T c.1166G>T c.12774G>T (p.Glu4258Asp) c.12759G>T (p.Glu4253Asp) c.12756G>T (p.Glu4252Asp) c.6143G>T c.12741G>T (p.Glu4247Asp) c.12771G>T (p.Glu4257Asp)	gnomAD v4
19	g.38565109A>C	CA405671126	RYR1	c.1185A>C c.1167A>C c.12775A>C (p.Thr4259Pro) c.12760A>C (p.Thr4254Pro) c.12757A>C (p.Thr4253Pro) c.6144A>C c.12742A>C (p.Thr4248Pro) c.12772A>C (p.Thr4258Pro)
19	g.38565109A>G	CA405671128	RYR1	c.1185A>G c.1167A>G c.12775A>G (p.Thr4259Ala) c.12760A>G (p.Thr4254Ala) c.12757A>G (p.Thr4253Ala) c.6144A>G c.12742A>G (p.Thr4248Ala) c.12772A>G (p.Thr4258Ala)	gnomAD v4
19	g.38565109A>T	CA405671127	RYR1	c.1185A>T c.1167A>T c.12775A>T (p.Thr4259Ser) c.12760A>T (p.Thr4254Ser) c.12757A>T (p.Thr4253Ser) c.6144A>T c.12742A>T (p.Thr4248Ser) c.12772A>T (p.Thr4258Ser)
19	g.38565110C>A	CA405671129	RYR1	c.1186C>A c.1168C>A c.12776C>A (p.Thr4259Asn) c.12761C>A (p.Thr4254Asn) c.12758C>A (p.Thr4253Asn) c.6145C>A c.12743C>A (p.Thr4248Asn) c.12773C>A (p.Thr4258Asn)	gnomAD v4
19	g.38565110C=	CA2335084641	RYR1	c.1186C= c.1168C= c.12776C= (p.Thr4259=) c.12761C= (p.Thr4254=) c.12758C= (p.Thr4253=) c.6145C= c.12743C= (p.Thr4248=) c.12773C= (p.Thr4258=)
19	g.38565110C>G	CA059427	RYR1	c.1186C>G c.1168C>G c.12776C>G (p.Thr4259Ser) c.12761C>G (p.Thr4254Ser) c.12758C>G (p.Thr4253Ser) c.6145C>G c.12743C>G (p.Thr4248Ser) c.12773C>G (p.Thr4258Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.38565110C>T	CA405671130	RYR1	c.1186C>T c.1168C>T c.12776C>T (p.Thr4259Ile) c.12761C>T (p.Thr4254Ile) c.12758C>T (p.Thr4253Ile) c.6145C>T c.12743C>T (p.Thr4248Ile) c.12773C>T (p.Thr4258Ile)	ClinVar dbSNP gnomAD v4
19	g.38565111C>A	CA507355582	RYR1	c.1187C>A c.1169C>A c.12777C>A (p.Thr4259=) c.12762C>A (p.Thr4254=) c.12759C>A (p.Thr4253=) c.6146C>A c.12744C>A (p.Thr4248=) c.12774C>A (p.Thr4258=)	gnomAD v4
19	g.38565111C>G	CA507355588	RYR1	c.1187C>G c.1169C>G c.12777C>G (p.Thr4259=) c.12762C>G (p.Thr4254=) c.12759C>G (p.Thr4253=) c.6146C>G c.12744C>G (p.Thr4248=) c.12774C>G (p.Thr4258=)
19	g.38565111C>T	CA507355590	RYR1	c.1187C>T c.1169C>T c.12777C>T (p.Thr4259=) c.12762C>T (p.Thr4254=) c.12759C>T (p.Thr4253=) c.6146C>T c.12744C>T (p.Thr4248=) c.12774C>T (p.Thr4258=)	ClinVar gnomAD v4
19	g.38565111_38565117delinsCGACGAG	CA2335084642	RYR1	c.1187_1193delinsCGACGAG c.1169_1175delinsCGACGAG c.12777_12783delinsCGACGAG (p.Thr4259=) c.12762_12768delinsCGACGAG (p.Thr4254=) c.12759_12765delinsCGACGAG (p.Thr4253=) c.6146_6152delinsCGACGAG c.12744_12750delinsCGACGAG (p.Thr4248=) c.12774_12780delinsCGACGAG (p.Thr4258=)
19	g.38565112G>A	CA405671131	RYR1	c.1188G>A c.1170G>A c.12778G>A (p.Asp4260Asn) c.12763G>A (p.Asp4255Asn) c.12760G>A (p.Asp4254Asn) c.6147G>A c.12745G>A (p.Asp4249Asn) c.12775G>A (p.Asp4259Asn)	dbSNP gnomAD v2 gnomAD v4
19	g.38565112G>C	CA405671132	RYR1	c.1188G>C c.1170G>C c.12778G>C (p.Asp4260His) c.12763G>C (p.Asp4255His) c.12760G>C (p.Asp4254His) c.6147G>C c.12745G>C (p.Asp4249His) c.12775G>C (p.Asp4259His)	gnomAD v4
19	g.38565112G=	CA2335084643	RYR1	c.1188G= c.1170G= c.12778G= (p.Asp4260=) c.12763G= (p.Asp4255=) c.12760G= (p.Asp4254=) c.6147G= c.12745G= (p.Asp4249=) c.12775G= (p.Asp4259=)
19	g.38565112G>T	CA405671133	RYR1	c.1188G>T c.1170G>T c.12778G>T (p.Asp4260Tyr) c.12763G>T (p.Asp4255Tyr) c.12760G>T (p.Asp4254Tyr) c.6147G>T c.12745G>T (p.Asp4249Tyr) c.12775G>T (p.Asp4259Tyr)	gnomAD v4
19	g.38565119_38565124dup	CA9415938	RYR1	c.1195_1200dup c.1177_1182dup c.12785_12790dup (p.Glu4263_Gly4264insAspGlu) c.12770_12775dup (p.Glu4258_Gly4259insAspGlu) c.12767_12772dup (p.Glu4257_Gly4258insAspGlu) c.6154_6159dup c.12752_12757dup (p.Glu4252_Gly4253insAspGlu) c.12782_12787dup (p.Glu4262_Gly4263insAspGlu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565119_38565124del	CA059432	RYR1	c.1195_1200del c.1177_1182del c.12785_12790del (p.Asp4262_Glu4263del) c.12770_12775del (p.Asp4257_Glu4258del) c.12767_12772del (p.Asp4256_Glu4257del) c.6154_6159del c.12752_12757del (p.Asp4251_Glu4252del) c.12782_12787del (p.Asp4261_Glu4262del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565113A>C	CA405671134	RYR1	c.1189A>C c.1171A>C c.12779A>C (p.Asp4260Ala) c.12764A>C (p.Asp4255Ala) c.12761A>C (p.Asp4254Ala) c.6148A>C c.12746A>C (p.Asp4249Ala) c.12776A>C (p.Asp4259Ala)
19	g.38565113A>G	CA405671135	RYR1	c.1189A>G c.1171A>G c.12779A>G (p.Asp4260Gly) c.12764A>G (p.Asp4255Gly) c.12761A>G (p.Asp4254Gly) c.6148A>G c.12746A>G (p.Asp4249Gly) c.12776A>G (p.Asp4259Gly)	gnomAD v4
19	g.38565113A>T	CA405671136	RYR1	c.1189A>T c.1171A>T c.12779A>T (p.Asp4260Val) c.12764A>T (p.Asp4255Val) c.12761A>T (p.Asp4254Val) c.6148A>T c.12746A>T (p.Asp4249Val) c.12776A>T (p.Asp4259Val)
19	g.38565114C>A	CA405671138	RYR1	c.1190C>A c.1172C>A c.12780C>A (p.Asp4260Glu) c.12765C>A (p.Asp4255Glu) c.12762C>A (p.Asp4254Glu) c.6149C>A c.12747C>A (p.Asp4249Glu) c.12777C>A (p.Asp4259Glu)	dbSNP gnomAD v2 gnomAD v4
19	g.38565114C=	CA2335084644	RYR1	c.1190C= c.1172C= c.12780C= (p.Asp4260=) c.12765C= (p.Asp4255=) c.12762C= (p.Asp4254=) c.6149C= c.12747C= (p.Asp4249=) c.12777C= (p.Asp4259=)
19	g.38565114C>G	CA405671137	RYR1	c.1190C>G c.1172C>G c.12780C>G (p.Asp4260Glu) c.12765C>G (p.Asp4255Glu) c.12762C>G (p.Asp4254Glu) c.6149C>G c.12747C>G (p.Asp4249Glu) c.12777C>G (p.Asp4259Glu)	gnomAD v4
19	g.38565114C>T	CA507355597	RYR1	c.1190C>T c.1172C>T c.12780C>T (p.Asp4260=) c.12765C>T (p.Asp4255=) c.12762C>T (p.Asp4254=) c.6149C>T c.12747C>T (p.Asp4249=) c.12777C>T (p.Asp4259=)	ClinVar gnomAD v4
19	g.38565116_38565127dup	CA2584909110	RYR1	c.1192_1203dup c.1174_1185dup c.12782_12793dup (p.Gly4264_Ala4265insGluAspGluGly) c.12767_12778dup (p.Gly4259_Ala4260insGluAspGluGly) c.12764_12775dup (p.Gly4258_Ala4259insGluAspGluGly) c.6151_6162dup c.12749_12760dup (p.Gly4253_Ala4254insGluAspGluGly) c.12779_12790dup (p.Gly4263_Ala4264insGluAspGluGly)	gnomAD v4
19	g.38565115G>A	CA405671139	RYR1	c.1191G>A c.1173G>A c.12781G>A (p.Glu4261Lys) c.12766G>A (p.Glu4256Lys) c.12763G>A (p.Glu4255Lys) c.6150G>A c.12748G>A (p.Glu4250Lys) c.12778G>A (p.Glu4260Lys)	dbSNP gnomAD v2 gnomAD v4
19	g.38565115G>C	CA405671140	RYR1	c.1191G>C c.1173G>C c.12781G>C (p.Glu4261Gln) c.12766G>C (p.Glu4256Gln) c.12763G>C (p.Glu4255Gln) c.6150G>C c.12748G>C (p.Glu4250Gln) c.12778G>C (p.Glu4260Gln)	gnomAD v4
19	g.38565115G=	CA2335084645	RYR1	c.1191G= c.1173G= c.12781G= (p.Glu4261=) c.12766G= (p.Glu4256=) c.12763G= (p.Glu4255=) c.6150G= c.12748G= (p.Glu4250=) c.12778G= (p.Glu4260=)
19	g.38565115G>T	CA405671141	RYR1	c.1191G>T c.1173G>T c.12781G>T (p.Glu4261Ter) c.12766G>T (p.Glu4256Ter) c.12763G>T (p.Glu4255Ter) c.6150G>T c.12748G>T (p.Glu4250Ter) c.12778G>T (p.Glu4260Ter)	gnomAD v4
19	g.38565116A=	CA2335084646	RYR1	c.1192A= c.1174A= c.12782A= (p.Glu4261=) c.12767A= (p.Glu4256=) c.12764A= (p.Glu4255=) c.6151A= c.12749A= (p.Glu4250=) c.12779A= (p.Glu4260=)
19	g.38565116A>C	CA405671142	RYR1	c.1192A>C c.1174A>C c.12782A>C (p.Glu4261Ala) c.12767A>C (p.Glu4256Ala) c.12764A>C (p.Glu4255Ala) c.6151A>C c.12749A>C (p.Glu4250Ala) c.12779A>C (p.Glu4260Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565116A>G	CA405671143	RYR1	c.1192A>G c.1174A>G c.12782A>G (p.Glu4261Gly) c.12767A>G (p.Glu4256Gly) c.12764A>G (p.Glu4255Gly) c.6151A>G c.12749A>G (p.Glu4250Gly) c.12779A>G (p.Glu4260Gly)
19	g.38565116A>T	CA405671144	RYR1	c.1192A>T c.1174A>T c.12782A>T (p.Glu4261Val) c.12767A>T (p.Glu4256Val) c.12764A>T (p.Glu4255Val) c.6151A>T c.12749A>T (p.Glu4250Val) c.12779A>T (p.Glu4260Val)
19	g.38565117G>A	CA507355600	RYR1	c.1193G>A c.1175G>A c.12783G>A (p.Glu4261=) c.12768G>A (p.Glu4256=) c.12765G>A (p.Glu4255=) c.6152G>A c.12750G>A (p.Glu4250=) c.12780G>A (p.Glu4260=)	ClinVar
19	g.38565117G>C	CA405671145	RYR1	c.1193G>C c.1175G>C c.12783G>C (p.Glu4261Asp) c.12768G>C (p.Glu4256Asp) c.12765G>C (p.Glu4255Asp) c.6152G>C c.12750G>C (p.Glu4250Asp) c.12780G>C (p.Glu4260Asp)	ClinVar
19	g.38565117G>T	CA405671146	RYR1	c.1193G>T c.1175G>T c.12783G>T (p.Glu4261Asp) c.12768G>T (p.Glu4256Asp) c.12765G>T (p.Glu4255Asp) c.6152G>T c.12750G>T (p.Glu4250Asp) c.12780G>T (p.Glu4260Asp)	gnomAD v4
19	g.38565118G>A	CA405671147	RYR1	c.1194G>A c.1176G>A c.12784G>A (p.Asp4262Asn) c.12769G>A (p.Asp4257Asn) c.12766G>A (p.Asp4256Asn) c.6153G>A c.12751G>A (p.Asp4251Asn) c.12781G>A (p.Asp4261Asn)	gnomAD v4
19	g.38565118G>C	CA405671148	RYR1	c.1194G>C c.1176G>C c.12784G>C (p.Asp4262His) c.12769G>C (p.Asp4257His) c.12766G>C (p.Asp4256His) c.6153G>C c.12751G>C (p.Asp4251His) c.12781G>C (p.Asp4261His)
19	g.38565118G>T	CA405671149	RYR1	c.1194G>T c.1176G>T c.12784G>T (p.Asp4262Tyr) c.12769G>T (p.Asp4257Tyr) c.12766G>T (p.Asp4256Tyr) c.6153G>T c.12751G>T (p.Asp4251Tyr) c.12781G>T (p.Asp4261Tyr)	gnomAD v4
19	g.38565120_38565122del	CA2584909111	RYR1	c.1196_1198del c.1178_1180del c.12786_12788del (p.Asp4262del) c.12771_12773del (p.Asp4257del) c.12768_12770del (p.Asp4256del) c.6155_6157del c.12753_12755del (p.Asp4251del) c.12783_12785del (p.Asp4261del)	gnomAD v4
19	g.38565119A=	CA2335084647	RYR1	c.1195A= c.1177A= c.12785A= (p.Asp4262=) c.12770A= (p.Asp4257=) c.12767A= (p.Asp4256=) c.6154A= c.12752A= (p.Asp4251=) c.12782A= (p.Asp4261=)
19	g.38565119A>C	CA405671152	RYR1	c.1195A>C c.1177A>C c.12785A>C (p.Asp4262Ala) c.12770A>C (p.Asp4257Ala) c.12767A>C (p.Asp4256Ala) c.6154A>C c.12752A>C (p.Asp4251Ala) c.12782A>C (p.Asp4261Ala)
19	g.38565119A>G	CA405671151	RYR1	c.1195A>G c.1177A>G c.12785A>G (p.Asp4262Gly) c.12770A>G (p.Asp4257Gly) c.12767A>G (p.Asp4256Gly) c.6154A>G c.12752A>G (p.Asp4251Gly) c.12782A>G (p.Asp4261Gly)	dbSNP COSMIC
19	g.38565119A>T	CA405671150	RYR1	c.1195A>T c.1177A>T c.12785A>T (p.Asp4262Val) c.12770A>T (p.Asp4257Val) c.12767A>T (p.Asp4256Val) c.6154A>T c.12752A>T (p.Asp4251Val) c.12782A>T (p.Asp4261Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565120C>A	CA405671153	RYR1	c.1196C>A c.1178C>A c.12786C>A (p.Asp4262Glu) c.12771C>A (p.Asp4257Glu) c.12768C>A (p.Asp4256Glu) c.6155C>A c.12753C>A (p.Asp4251Glu) c.12783C>A (p.Asp4261Glu)	gnomAD v4
19	g.38565120C=	CA2335084648	RYR1	c.1196C= c.1178C= c.12786C= (p.Asp4262=) c.12771C= (p.Asp4257=) c.12768C= (p.Asp4256=) c.6155C= c.12753C= (p.Asp4251=) c.12783C= (p.Asp4261=)
19	g.38565120C>G	CA405671154	RYR1	c.1196C>G c.1178C>G c.12786C>G (p.Asp4262Glu) c.12771C>G (p.Asp4257Glu) c.12768C>G (p.Asp4256Glu) c.6155C>G c.12753C>G (p.Asp4251Glu) c.12783C>G (p.Asp4261Glu)	gnomAD v4
19	g.38565120C>T	CA308109161	RYR1	c.1196C>T c.1178C>T c.12786C>T (p.Asp4262=) c.12771C>T (p.Asp4257=) c.12768C>T (p.Asp4256=) c.6155C>T c.12753C>T (p.Asp4251=) c.12783C>T (p.Asp4261=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565122_38565127dup	CA507355606	RYR1	c.1198_1203dup c.1180_1185dup c.12788_12793dup (p.Gly4264_Ala4265insGluGly) c.12773_12778dup (p.Gly4259_Ala4260insGluGly) c.12770_12775dup (p.Gly4258_Ala4259insGluGly) c.6157_6162dup c.12755_12760dup (p.Gly4253_Ala4254insGluGly) c.12785_12790dup (p.Gly4263_Ala4264insGluGly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565122_38565127del	CA2580097178	RYR1	c.1198_1203del c.1180_1185del c.12788_12793del (p.Glu4263_Gly4264del) c.12773_12778del (p.Glu4258_Gly4259del) c.12770_12775del (p.Glu4257_Gly4258del) c.6157_6162del c.12755_12760del (p.Glu4252_Gly4253del) c.12785_12790del (p.Glu4262_Gly4263del)	ClinVar
19	g.38565121G>A	CA405671155	RYR1	c.1197G>A c.1179G>A c.12787G>A (p.Glu4263Lys) c.12772G>A (p.Glu4258Lys) c.12769G>A (p.Glu4257Lys) c.6156G>A c.12754G>A (p.Glu4252Lys) c.12784G>A (p.Glu4262Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565121G>C	CA405671156	RYR1	c.1197G>C c.1179G>C c.12787G>C (p.Glu4263Gln) c.12772G>C (p.Glu4258Gln) c.12769G>C (p.Glu4257Gln) c.6156G>C c.12754G>C (p.Glu4252Gln) c.12784G>C (p.Glu4262Gln)	gnomAD v4
19	g.38565121G=	CA2335084649	RYR1	c.1197G= c.1179G= c.12787G= (p.Glu4263=) c.12772G= (p.Glu4258=) c.12769G= (p.Glu4257=) c.6156G= c.12754G= (p.Glu4252=) c.12784G= (p.Glu4262=)
19	g.38565121G>T	CA405671157	RYR1	c.1197G>T c.1179G>T c.12787G>T (p.Glu4263Ter) c.12772G>T (p.Glu4258Ter) c.12769G>T (p.Glu4257Ter) c.6156G>T c.12754G>T (p.Glu4252Ter) c.12784G>T (p.Glu4262Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565131_38565172del	CA2584909112	RYR1	c.1207_1248del c.1189_1230del c.12797_12838del (p.Gly4266_Ala4279del) c.12782_12823del (p.Gly4261_Ala4274del) c.12779_12820del (p.Gly4260_Ala4273del) c.6166_6207del c.12764_12805del (p.Gly4255_Ala4268del) c.12794_12835del (p.Gly4265_Ala4278del)	gnomAD v4
19	g.38565122A=	CA2335084652	RYR1	c.1198A= c.1180A= c.12788A= (p.Glu4263=) c.12773A= (p.Glu4258=) c.12770A= (p.Glu4257=) c.6157A= c.12755A= (p.Glu4252=) c.12785A= (p.Glu4262=)
19	g.38565122A>C	CA405671158	RYR1	c.1198A>C c.1180A>C c.12788A>C (p.Glu4263Ala) c.12773A>C (p.Glu4258Ala) c.12770A>C (p.Glu4257Ala) c.6157A>C c.12755A>C (p.Glu4252Ala) c.12785A>C (p.Glu4262Ala)	COSMIC
19	g.38565122A>G	CA405671159	RYR1	c.1198A>G c.1180A>G c.12788A>G (p.Glu4263Gly) c.12773A>G (p.Glu4258Gly) c.12770A>G (p.Glu4257Gly) c.6157A>G c.12755A>G (p.Glu4252Gly) c.12785A>G (p.Glu4262Gly)
19	g.38565122A>T	CA405671160	RYR1	c.1198A>T c.1180A>T c.12788A>T (p.Glu4263Val) c.12773A>T (p.Glu4258Val) c.12770A>T (p.Glu4257Val) c.6157A>T c.12755A>T (p.Glu4252Val) c.12785A>T (p.Glu4262Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565122_38565128delinsAGGGCGC	CA2335084650	RYR1	c.1198_1204delinsAGGGCGC c.1180_1186delinsAGGGCGC c.12788_12794delinsAGGGCGC (p.Glu4263=) c.12773_12779delinsAGGGCGC (p.Glu4258=) c.12770_12776delinsAGGGCGC (p.Glu4257=) c.6157_6163delinsAGGGCGC c.12755_12761delinsAGGGCGC (p.Glu4252=) c.12785_12791delinsAGGGCGC (p.Glu4262=)
19	g.38565122_38565143delinsAGGGCGCGGGCGCGGCGGAGGC	CA2335084651	RYR1	c.1198_1219delinsAGGGCGCGGGCGCGGCGGAGGC c.1180_1201delinsAGGGCGCGGGCGCGGCGGAGGC c.12788_12809delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4263=) c.12773_12794delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4258=) c.12770_12791delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4257=) c.6157_6178delinsAGGGCGCGGGCGCGGCGGAGGC c.12755_12776delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4252=) c.12785_12806delinsAGGGCGCGGGCGCGGCGGAGGC (p.Glu4262=)
19	g.38565123G>A	CA507355613	RYR1	c.1199G>A c.1181G>A c.12789G>A (p.Glu4263=) c.12774G>A (p.Glu4258=) c.12771G>A (p.Glu4257=) c.6158G>A c.12756G>A (p.Glu4252=) c.12786G>A (p.Glu4262=)
19	g.38565123G>C	CA405671161	RYR1	c.1199G>C c.1181G>C c.12789G>C (p.Glu4263Asp) c.12774G>C (p.Glu4258Asp) c.12771G>C (p.Glu4257Asp) c.6158G>C c.12756G>C (p.Glu4252Asp) c.12786G>C (p.Glu4262Asp)	dbSNP gnomAD v2 gnomAD v4
19	g.38565123G=	CA2335084653	RYR1	c.1199G= c.1181G= c.12789G= (p.Glu4263=) c.12774G= (p.Glu4258=) c.12771G= (p.Glu4257=) c.6158G= c.12756G= (p.Glu4252=) c.12786G= (p.Glu4262=)
19	g.38565123G>T	CA405671162	RYR1	c.1199G>T c.1181G>T c.12789G>T (p.Glu4263Asp) c.12774G>T (p.Glu4258Asp) c.12771G>T (p.Glu4257Asp) c.6158G>T c.12756G>T (p.Glu4252Asp) c.12786G>T (p.Glu4262Asp)	gnomAD v4
19	g.38565131_38565136dup	CA059435	RYR1	c.1207_1212dup c.1189_1194dup c.12797_12802dup (p.Ala4267_Ala4268insGlyAla) c.12782_12787dup (p.Ala4262_Ala4263insGlyAla) c.12779_12784dup (p.Ala4261_Ala4262insGlyAla) c.6166_6171dup c.12764_12769dup (p.Ala4256_Ala4257insGlyAla) c.12794_12799dup (p.Ala4266_Ala4267insGlyAla)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565131_38565136del	CA633066813	RYR1	c.1207_1212del c.1189_1194del c.12797_12802del (p.Gly4266_Ala4267del) c.12782_12787del (p.Gly4261_Ala4262del) c.12779_12784del (p.Gly4260_Ala4261del) c.6166_6171del c.12764_12769del (p.Gly4255_Ala4256del) c.12794_12799del (p.Gly4265_Ala4266del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565131_38565151del	CA308109162	RYR1	c.1207_1227del c.1189_1209del c.12797_12817del (p.Gly4266_Ala4272del) c.12782_12802del (p.Gly4261_Ala4267del) c.12779_12799del (p.Gly4260_Ala4266del) c.6166_6186del c.12764_12784del (p.Gly4255_Ala4261del) c.12794_12814del (p.Gly4265_Ala4271del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565124G>A	CA405671165	RYR1	c.1200G>A c.1182G>A c.12790G>A (p.Gly4264Ser) c.12775G>A (p.Gly4259Ser) c.12772G>A (p.Gly4258Ser) c.6159G>A c.12757G>A (p.Gly4253Ser) c.12787G>A (p.Gly4263Ser)	gnomAD v4
19	g.38565124G>C	CA405671163	RYR1	c.1200G>C c.1182G>C c.12790G>C (p.Gly4264Arg) c.12775G>C (p.Gly4259Arg) c.12772G>C (p.Gly4258Arg) c.6159G>C c.12757G>C (p.Gly4253Arg) c.12787G>C (p.Gly4263Arg)
19	g.38565124G>T	CA405671164	RYR1	c.1200G>T c.1182G>T c.12790G>T (p.Gly4264Cys) c.12775G>T (p.Gly4259Cys) c.12772G>T (p.Gly4258Cys) c.6159G>T c.12757G>T (p.Gly4253Cys) c.12787G>T (p.Gly4263Cys)	gnomAD v4
19	g.38565131_38565160dup	CA633066814	RYR1	c.1207_1236dup c.1189_1218dup c.12797_12826dup (p.Ala4275_Glu4276insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12782_12811dup (p.Ala4270_Glu4271insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12779_12808dup (p.Ala4269_Glu4270insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.6166_6195dup c.12764_12793dup (p.Ala4264_Glu4265insGlyAlaAlaGluAlaGlyAlaGluGlyAla) c.12794_12823dup (p.Ala4274_Glu4275insGlyAlaAlaGluAlaGlyAlaGluGlyAla)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565125G>A	CA405671166	RYR1	c.1201G>A c.1183G>A c.12791G>A (p.Gly4264Asp) c.12776G>A (p.Gly4259Asp) c.12773G>A (p.Gly4258Asp) c.6160G>A c.12758G>A (p.Gly4253Asp) c.12788G>A (p.Gly4263Asp)	ClinVar dbSNP gnomAD v4
19	g.38565125G>C	CA405671167	RYR1	c.1201G>C c.1183G>C c.12791G>C (p.Gly4264Ala) c.12776G>C (p.Gly4259Ala) c.12773G>C (p.Gly4258Ala) c.6160G>C c.12758G>C (p.Gly4253Ala) c.12788G>C (p.Gly4263Ala)
19	g.38565125G=	CA2335084654	RYR1	c.1201G= c.1183G= c.12791G= (p.Gly4264=) c.12776G= (p.Gly4259=) c.12773G= (p.Gly4258=) c.6160G= c.12758G= (p.Gly4253=) c.12788G= (p.Gly4263=)
19	g.38565125G>T	CA308109167	RYR1	c.1201G>T c.1183G>T c.12791G>T (p.Gly4264Val) c.12776G>T (p.Gly4259Val) c.12773G>T (p.Gly4258Val) c.6160G>T c.12758G>T (p.Gly4253Val) c.12788G>T (p.Gly4263Val)	dbSNP gnomAD v4
19	g.38565125_38565126insGGGCGC	CA080763	RYR1	c.1201_1202insGGGCGC c.1183_1184insGGGCGC c.12791_12792insGGGCGC (p.Gly4264_Ala4265insGlyAla) c.12776_12777insGGGCGC (p.Gly4259_Ala4260insGlyAla) c.12773_12774insGGGCGC (p.Gly4258_Ala4259insGlyAla) c.6160_6161insGGGCGC c.12758_12759insGGGCGC (p.Gly4253_Ala4254insGlyAla) c.12788_12789insGGGCGC (p.Gly4263_Ala4264insGlyAla)
19	g.38565126C>A	CA507355617	RYR1	c.1202C>A c.1184C>A c.12792C>A (p.Gly4264=) c.12777C>A (p.Gly4259=) c.12774C>A (p.Gly4258=) c.6161C>A c.12759C>A (p.Gly4253=) c.12789C>A (p.Gly4263=)	gnomAD v4
19	g.38565126C>G	CA507355619	RYR1	c.1202C>G c.1184C>G c.12792C>G (p.Gly4264=) c.12777C>G (p.Gly4259=) c.12774C>G (p.Gly4258=) c.6161C>G c.12759C>G (p.Gly4253=) c.12789C>G (p.Gly4263=)
19	g.38565126C>T	CA507355618	RYR1	c.1202C>T c.1184C>T c.12792C>T (p.Gly4264=) c.12777C>T (p.Gly4259=) c.12774C>T (p.Gly4258=) c.6161C>T c.12759C>T (p.Gly4253=) c.12789C>T (p.Gly4263=)	ClinVar dbSNP gnomAD v4
19	g.38565126_38565129delinsCGCG	CA2335084656	RYR1	c.1202_1205delinsCGCG c.1184_1187delinsCGCG c.12792_12795delinsCGCG (p.Gly4264=) c.12777_12780delinsCGCG (p.Gly4259=) c.12774_12777delinsCGCG (p.Gly4258=) c.6161_6164delinsCGCG c.12759_12762delinsCGCG (p.Gly4253=) c.12789_12792delinsCGCG (p.Gly4263=)
19	g.38565126_38565141delinsCGCGGGCGCGGCGGAG	CA2335084655	RYR1	c.1202_1217delinsCGCGGGCGCGGCGGAG c.1184_1199delinsCGCGGGCGCGGCGGAG c.12792_12807delinsCGCGGGCGCGGCGGAG (p.Gly4264=) c.12777_12792delinsCGCGGGCGCGGCGGAG (p.Gly4259=) c.12774_12789delinsCGCGGGCGCGGCGGAG (p.Gly4258=) c.6161_6176delinsCGCGGGCGCGGCGGAG c.12759_12774delinsCGCGGGCGCGGCGGAG (p.Gly4253=) c.12789_12804delinsCGCGGGCGCGGCGGAG (p.Gly4263=)
19	g.38565127G>A	CA405671168	RYR1	c.1203G>A c.1185G>A c.12793G>A (p.Ala4265Thr) c.12778G>A (p.Ala4260Thr) c.12775G>A (p.Ala4259Thr) c.6162G>A c.12760G>A (p.Ala4254Thr) c.12790G>A (p.Ala4264Thr)	gnomAD v4
19	g.38565127G>C	CA405671169	RYR1	c.1203G>C c.1185G>C c.12793G>C (p.Ala4265Pro) c.12778G>C (p.Ala4260Pro) c.12775G>C (p.Ala4259Pro) c.6162G>C c.12760G>C (p.Ala4254Pro) c.12790G>C (p.Ala4264Pro)
19	g.38565127G>T	CA405671170	RYR1	c.1203G>T c.1185G>T c.12793G>T (p.Ala4265Ser) c.12778G>T (p.Ala4260Ser) c.12775G>T (p.Ala4259Ser) c.6162G>T c.12760G>T (p.Ala4254Ser) c.12790G>T (p.Ala4264Ser)	gnomAD v4
19	g.38565128_38565130del	CA405671171	RYR1	c.1204_1206del c.1186_1188del c.12794_12796del (p.Ala4265del) c.12779_12781del (p.Ala4260del) c.12776_12778del (p.Ala4259del) c.6163_6165del c.12761_12763del (p.Ala4254del) c.12791_12793del (p.Ala4264del)	dbSNP
19	g.38565131_38565139del	CA2584909113	RYR1	c.1207_1215del c.1189_1197del c.12797_12805del (p.Gly4266_Ala4268del) c.12782_12790del (p.Gly4261_Ala4263del) c.12779_12787del (p.Gly4260_Ala4262del) c.6166_6174del c.12764_12772del (p.Gly4255_Ala4257del) c.12794_12802del (p.Gly4265_Ala4267del)	gnomAD v4
19	g.38565137_38565151dup	CA308109171	RYR1	c.1213_1227dup c.1195_1209dup c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla) c.12788_12802dup (p.Ala4267_Glu4268insAlaGluAlaGlyAla) c.12785_12799dup (p.Ala4266_Glu4267insAlaGluAlaGlyAla) c.6172_6186dup c.12770_12784dup (p.Ala4261_Glu4262insAlaGluAlaGlyAla) c.12800_12814dup (p.Ala4271_Glu4272insAlaGluAlaGlyAla)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565137_38565151del	CA308109175	RYR1	c.1213_1227del c.1195_1209del c.12803_12817del (p.Ala4268_Ala4272del) c.12788_12802del (p.Ala4263_Ala4267del) c.12785_12799del (p.Ala4262_Ala4266del) c.6172_6186del c.12770_12784del (p.Ala4257_Ala4261del) c.12800_12814del (p.Ala4267_Ala4271del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565128C>A	CA405671172	RYR1	c.1204C>A c.1186C>A c.12794C>A (p.Ala4265Glu) c.12779C>A (p.Ala4260Glu) c.12776C>A (p.Ala4259Glu) c.6163C>A c.12761C>A (p.Ala4254Glu) c.12791C>A (p.Ala4264Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565128C=	CA2335084657	RYR1	c.1204C= c.1186C= c.12794C= (p.Ala4265=) c.12779C= (p.Ala4260=) c.12776C= (p.Ala4259=) c.6163C= c.12761C= (p.Ala4254=) c.12791C= (p.Ala4264=)
19	g.38565128C>G	CA405671173	RYR1	c.1204C>G c.1186C>G c.12794C>G (p.Ala4265Gly) c.12779C>G (p.Ala4260Gly) c.12776C>G (p.Ala4259Gly) c.6163C>G c.12761C>G (p.Ala4254Gly) c.12791C>G (p.Ala4264Gly)
19	g.38565128C>T	CA405671174	RYR1	c.1204C>T c.1186C>T c.12794C>T (p.Ala4265Val) c.12779C>T (p.Ala4260Val) c.12776C>T (p.Ala4259Val) c.6163C>T c.12761C>T (p.Ala4254Val) c.12791C>T (p.Ala4264Val)	gnomAD v4
19	g.38565129G>A	CA507355622	RYR1	c.1205G>A c.1187G>A c.12795G>A (p.Ala4265=) c.12780G>A (p.Ala4260=) c.12777G>A (p.Ala4259=) c.6164G>A c.12762G>A (p.Ala4254=) c.12792G>A (p.Ala4264=)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565129G>C	CA507355623	RYR1	c.1205G>C c.1187G>C c.12795G>C (p.Ala4265=) c.12780G>C (p.Ala4260=) c.12777G>C (p.Ala4259=) c.6164G>C c.12762G>C (p.Ala4254=) c.12792G>C (p.Ala4264=)	gnomAD v4
19	g.38565129G=	CA2335084658	RYR1	c.1205G= c.1187G= c.12795G= (p.Ala4265=) c.12780G= (p.Ala4260=) c.12777G= (p.Ala4259=) c.6164G= c.12762G= (p.Ala4254=) c.12792G= (p.Ala4264=)
19	g.38565129G>T	CA507355624	RYR1	c.1205G>T c.1187G>T c.12795G>T (p.Ala4265=) c.12780G>T (p.Ala4260=) c.12777G>T (p.Ala4259=) c.6164G>T c.12762G>T (p.Ala4254=) c.12792G>T (p.Ala4264=)	gnomAD v4
19	g.38565130G>A	CA405671177	RYR1	c.1206G>A c.1188G>A c.12796G>A (p.Gly4266Ser) c.12781G>A (p.Gly4261Ser) c.12778G>A (p.Gly4260Ser) c.6165G>A c.12763G>A (p.Gly4255Ser) c.12793G>A (p.Gly4265Ser)	gnomAD v4
19	g.38565130G>C	CA405671176	RYR1	c.1206G>C c.1188G>C c.12796G>C (p.Gly4266Arg) c.12781G>C (p.Gly4261Arg) c.12778G>C (p.Gly4260Arg) c.6165G>C c.12763G>C (p.Gly4255Arg) c.12793G>C (p.Gly4265Arg)
19	g.38565130G>T	CA405671175	RYR1	c.1206G>T c.1188G>T c.12796G>T (p.Gly4266Cys) c.12781G>T (p.Gly4261Cys) c.12778G>T (p.Gly4260Cys) c.6165G>T c.12763G>T (p.Gly4255Cys) c.12793G>T (p.Gly4265Cys)	gnomAD v4
19	g.38565137_38565160del	CA2584909114	RYR1	c.1213_1236del c.1195_1218del c.12803_12826del (p.Ala4268_Ala4275del) c.12788_12811del (p.Ala4263_Ala4270del) c.12785_12808del (p.Ala4262_Ala4269del) c.6172_6195del c.12770_12793del (p.Ala4257_Ala4264del) c.12800_12823del (p.Ala4267_Ala4274del)	gnomAD v4
19	g.38565131G>A	CA405671178	RYR1	c.1207G>A c.1189G>A c.12797G>A (p.Gly4266Asp) c.12782G>A (p.Gly4261Asp) c.12779G>A (p.Gly4260Asp) c.6166G>A c.12764G>A (p.Gly4255Asp) c.12794G>A (p.Gly4265Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565131G>C	CA405671181	RYR1	c.1207G>C c.1189G>C c.12797G>C (p.Gly4266Ala) c.12782G>C (p.Gly4261Ala) c.12779G>C (p.Gly4260Ala) c.6166G>C c.12764G>C (p.Gly4255Ala) c.12794G>C (p.Gly4265Ala)	gnomAD v4
19	g.38565131G=	CA2335084659	RYR1	c.1207G= c.1189G= c.12797G= (p.Gly4266=) c.12782G= (p.Gly4261=) c.12779G= (p.Gly4260=) c.6166G= c.12764G= (p.Gly4255=) c.12794G= (p.Gly4265=)
19	g.38565131G>T	CA405671179	RYR1	c.1207G>T c.1189G>T c.12797G>T (p.Gly4266Val) c.12782G>T (p.Gly4261Val) c.12779G>T (p.Gly4260Val) c.6166G>T c.12764G>T (p.Gly4255Val) c.12794G>T (p.Gly4265Val)	gnomAD v4
19	g.38565134_38565135dup	CA1139532380	RYR1	c.1210_1211dup c.1192_1193dup c.12800_12801dup (p.Ala4268ArgfsTer?) c.12785_12786dup (p.Ala4263ArgfsTer?) c.12782_12783dup (p.Ala4262ArgfsTer?) c.6169_6170dup c.12767_12768dup (p.Ala4257ArgfsTer?) c.12797_12798dup (p.Ala4267ArgfsTer?)
19	g.38565132C>A	CA507355627	RYR1	c.1208C>A c.1190C>A c.12798C>A (p.Gly4266=) c.12783C>A (p.Gly4261=) c.12780C>A (p.Gly4260=) c.6167C>A c.12765C>A (p.Gly4255=) c.12795C>A (p.Gly4265=)	gnomAD v4
19	g.38565132C=	CA2335084660	RYR1	c.1208C= c.1190C= c.12798C= (p.Gly4266=) c.12783C= (p.Gly4261=) c.12780C= (p.Gly4260=) c.6167C= c.12765C= (p.Gly4255=) c.12795C= (p.Gly4265=)
19	g.38565132C>G	CA507355626	RYR1	c.1208C>G c.1190C>G c.12798C>G (p.Gly4266=) c.12783C>G (p.Gly4261=) c.12780C>G (p.Gly4260=) c.6167C>G c.12765C>G (p.Gly4255=) c.12795C>G (p.Gly4265=)
19	g.38565132C>T	CA507355625	RYR1	c.1208C>T c.1190C>T c.12798C>T (p.Gly4266=) c.12783C>T (p.Gly4261=) c.12780C>T (p.Gly4260=) c.6167C>T c.12765C>T (p.Gly4255=) c.12795C>T (p.Gly4265=)	dbSNP gnomAD v4
19	g.38565133G>A	CA405671182	RYR1	c.1209G>A c.1191G>A c.12799G>A (p.Ala4267Thr) c.12784G>A (p.Ala4262Thr) c.12781G>A (p.Ala4261Thr) c.6168G>A c.12766G>A (p.Ala4256Thr) c.12796G>A (p.Ala4266Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565133G>C	CA405671184	RYR1	c.1209G>C c.1191G>C c.12799G>C (p.Ala4267Pro) c.12784G>C (p.Ala4262Pro) c.12781G>C (p.Ala4261Pro) c.6168G>C c.12766G>C (p.Ala4256Pro) c.12796G>C (p.Ala4266Pro)
19	g.38565133G=	CA2335084661	RYR1	c.1209G= c.1191G= c.12799G= (p.Ala4267=) c.12784G= (p.Ala4262=) c.12781G= (p.Ala4261=) c.6168G= c.12766G= (p.Ala4256=) c.12796G= (p.Ala4266=)
19	g.38565133G>T	CA405671186	RYR1	c.1209G>T c.1191G>T c.12799G>T (p.Ala4267Ser) c.12784G>T (p.Ala4262Ser) c.12781G>T (p.Ala4261Ser) c.6168G>T c.12766G>T (p.Ala4256Ser) c.12796G>T (p.Ala4266Ser)	gnomAD v4
19	g.38565134C>A	CA308109176	RYR1	c.1210C>A c.1192C>A c.12800C>A (p.Ala4267Glu) c.12785C>A (p.Ala4262Glu) c.12782C>A (p.Ala4261Glu) c.6169C>A c.12767C>A (p.Ala4256Glu) c.12797C>A (p.Ala4266Glu)	dbSNP gnomAD v4
19	g.38565134C=	CA2335084662	RYR1	c.1210C= c.1192C= c.12800C= (p.Ala4267=) c.12785C= (p.Ala4262=) c.12782C= (p.Ala4261=) c.6169C= c.12767C= (p.Ala4256=) c.12797C= (p.Ala4266=)
19	g.38565134C>G	CA059436	RYR1	c.1210C>G c.1192C>G c.12800C>G (p.Ala4267Gly) c.12785C>G (p.Ala4262Gly) c.12782C>G (p.Ala4261Gly) c.6169C>G c.12767C>G (p.Ala4256Gly) c.12797C>G (p.Ala4266Gly)	dbSNP ExAC gnomAD v4
19	g.38565134C>T	CA405671188	RYR1	c.1210C>T c.1192C>T c.12800C>T (p.Ala4267Val) c.12785C>T (p.Ala4262Val) c.12782C>T (p.Ala4261Val) c.6169C>T c.12767C>T (p.Ala4256Val) c.12797C>T (p.Ala4266Val)	gnomAD v4
19	g.38565135G>A	CA507355632	RYR1	c.1211G>A c.1193G>A c.12801G>A (p.Ala4267=) c.12786G>A (p.Ala4262=) c.12783G>A (p.Ala4261=) c.6170G>A c.12768G>A (p.Ala4256=) c.12798G>A (p.Ala4266=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565135G>C	CA507355634	RYR1	c.1211G>C c.1193G>C c.12801G>C (p.Ala4267=) c.12786G>C (p.Ala4262=) c.12783G>C (p.Ala4261=) c.6170G>C c.12768G>C (p.Ala4256=) c.12798G>C (p.Ala4266=)
19	g.38565135G=	CA2335084664	RYR1	c.1211G= c.1193G= c.12801G= (p.Ala4267=) c.12786G= (p.Ala4262=) c.12783G= (p.Ala4261=) c.6170G= c.12768G= (p.Ala4256=) c.12798G= (p.Ala4266=)
19	g.38565135G>T	CA507355636	RYR1	c.1211G>T c.1193G>T c.12801G>T (p.Ala4267=) c.12786G>T (p.Ala4262=) c.12783G>T (p.Ala4261=) c.6170G>T c.12768G>T (p.Ala4256=) c.12798G>T (p.Ala4266=)	gnomAD v4
19	g.38565135_38565156delinsGGCGGAGGCGGGCGCGGAAGGC	CA2335084663	RYR1	c.1211_1232delinsGGCGGAGGCGGGCGCGGAAGGC c.1193_1214delinsGGCGGAGGCGGGCGCGGAAGGC c.12801_12822delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4267=) c.12786_12807delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4262=) c.12783_12804delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4261=) c.6170_6191delinsGGCGGAGGCGGGCGCGGAAGGC c.12768_12789delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4256=) c.12798_12819delinsGGCGGAGGCGGGCGCGGAAGGC (p.Ala4266=)
19	g.38565136G>A	CA10642758	RYR1	c.1212G>A c.1194G>A c.12802G>A (p.Ala4268Thr) c.12787G>A (p.Ala4263Thr) c.12784G>A (p.Ala4262Thr) c.6171G>A c.12769G>A (p.Ala4257Thr) c.12799G>A (p.Ala4267Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565136G>C	CA405671191	RYR1	c.1212G>C c.1194G>C c.12802G>C (p.Ala4268Pro) c.12787G>C (p.Ala4263Pro) c.12784G>C (p.Ala4262Pro) c.6171G>C c.12769G>C (p.Ala4257Pro) c.12799G>C (p.Ala4267Pro)
19	g.38565136G=	CA2335084665	RYR1	c.1212G= c.1194G= c.12802G= (p.Ala4268=) c.12787G= (p.Ala4263=) c.12784G= (p.Ala4262=) c.6171G= c.12769G= (p.Ala4257=) c.12799G= (p.Ala4267=)
19	g.38565136G>T	CA405671193	RYR1	c.1212G>T c.1194G>T c.12802G>T (p.Ala4268Ser) c.12787G>T (p.Ala4263Ser) c.12784G>T (p.Ala4262Ser) c.6171G>T c.12769G>T (p.Ala4257Ser) c.12799G>T (p.Ala4267Ser)
19	g.38565163_38565164insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG	CA2584909115	RYR1	c.1239_1240insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.1221_1222insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12829_12830insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12814_12815insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12811_12812insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.6198_6199insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12796_12797insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12826_12827insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu)	gnomAD v4
19	g.38565143_38565163dup	CA633066816	RYR1	c.1219_1239dup c.1201_1221dup c.12809_12829dup (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGlu) c.12794_12814dup (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGlu) c.12791_12811dup (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGlu) c.6178_6198dup c.12776_12796dup (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGlu) c.12806_12826dup (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGlu)	dbSNP gnomAD v2
19	g.38565143_38565163del	CA633066815	RYR1	c.1219_1239del c.1201_1221del c.12809_12829del (p.Ala4270_Glu4276del) c.12794_12814del (p.Ala4265_Glu4271del) c.12791_12811del (p.Ala4264_Glu4270del) c.6178_6198del c.12776_12796del (p.Ala4259_Glu4265del) c.12806_12826del (p.Ala4269_Glu4275del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565137C>A	CA405671196	RYR1	c.1213C>A c.1195C>A c.12803C>A (p.Ala4268Glu) c.12788C>A (p.Ala4263Glu) c.12785C>A (p.Ala4262Glu) c.6172C>A c.12770C>A (p.Ala4257Glu) c.12800C>A (p.Ala4267Glu)	gnomAD v4
19	g.38565137C=	CA2335084666	RYR1	c.1213C= c.1195C= c.12803C= (p.Ala4268=) c.12788C= (p.Ala4263=) c.12785C= (p.Ala4262=) c.6172C= c.12770C= (p.Ala4257=) c.12800C= (p.Ala4267=)
19	g.38565137C>G	CA059443	RYR1	c.1213C>G c.1195C>G c.12803C>G (p.Ala4268Gly) c.12788C>G (p.Ala4263Gly) c.12785C>G (p.Ala4262Gly) c.6172C>G c.12770C>G (p.Ala4257Gly) c.12800C>G (p.Ala4267Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565137C>T	CA405671194	RYR1	c.1213C>T c.1195C>T c.12803C>T (p.Ala4268Val) c.12788C>T (p.Ala4263Val) c.12785C>T (p.Ala4262Val) c.6172C>T c.12770C>T (p.Ala4257Val) c.12800C>T (p.Ala4267Val)	gnomAD v4
19	g.38565137_38565161delinsCGGAGGCGGGCGCGGAAGGCGCGGA	CA2335084667	RYR1	c.1213_1237delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.1195_1219delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12803_12827delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4268=) c.12788_12812delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4263=) c.12785_12809delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4262=) c.6172_6196delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12770_12794delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4257=) c.12800_12824delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4267=)

Number of alleles fetched