Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.38565224_38565244del	CA2580097181	RYR1	c.1300_1320del c.1282_1302del c.12890_12910del (p.Val4297_Arg4303del) c.12875_12895del (p.Val4292_Arg4298del) c.12872_12892del (p.Val4291_Arg4297del) c.12857_12877del (p.Val4286_Arg4292del) c.12887_12907del (p.Val4296_Arg4302del)	ClinVar gnomAD v4
19	g.38565225_38565242del	CA2584909129	RYR1	c.1301_1318del c.1283_1300del c.12891_12908del (p.Val4298_Arg4303del) c.12876_12893del (p.Val4293_Arg4298del) c.12873_12890del (p.Val4292_Arg4297del) c.12858_12875del (p.Val4287_Arg4292del) c.12888_12905del (p.Val4297_Arg4302del)	gnomAD v4
19	g.38565229del	CA2584909130	RYR1	c.1305del c.1287del c.12895del (p.Ala4299ArgfsTer?) c.12880del (p.Ala4294ArgfsTer?) c.12877del (p.Ala4293ArgfsTer?) c.12862del (p.Ala4288ArgfsTer?) c.12892del (p.Ala4298ArgfsTer?)	gnomAD v4
19	g.38565229G>A	CA405672485	RYR1	c.1305G>A c.1287G>A c.12895G>A (p.Ala4299Thr) c.12880G>A (p.Ala4294Thr) c.12877G>A (p.Ala4293Thr) c.12862G>A (p.Ala4288Thr) c.12892G>A (p.Ala4298Thr)
19	g.38565229G>C	CA405672483	RYR1	c.1305G>C c.1287G>C c.12895G>C (p.Ala4299Pro) c.12880G>C (p.Ala4294Pro) c.12877G>C (p.Ala4293Pro) c.12862G>C (p.Ala4288Pro) c.12892G>C (p.Ala4298Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565229G=	CA2335084753	RYR1	c.1305G= c.1287G= c.12895G= (p.Ala4299=) c.12880G= (p.Ala4294=) c.12877G= (p.Ala4293=) c.12862G= (p.Ala4288=) c.12892G= (p.Ala4298=)
19	g.38565229G>T	CA405672481	RYR1	c.1305G>T c.1287G>T c.12895G>T (p.Ala4299Ser) c.12880G>T (p.Ala4294Ser) c.12877G>T (p.Ala4293Ser) c.12862G>T (p.Ala4288Ser) c.12892G>T (p.Ala4298Ser)	gnomAD v4
19	g.38565230C>A	CA405672491	RYR1	c.1306C>A c.1288C>A c.12896C>A (p.Ala4299Glu) c.12881C>A (p.Ala4294Glu) c.12878C>A (p.Ala4293Glu) c.12863C>A (p.Ala4288Glu) c.12893C>A (p.Ala4298Glu)	gnomAD v4
19	g.38565230C=	CA2335084754	RYR1	c.1306C= c.1288C= c.12896C= (p.Ala4299=) c.12881C= (p.Ala4294=) c.12878C= (p.Ala4293=) c.12863C= (p.Ala4288=) c.12893C= (p.Ala4298=)
19	g.38565230C>G	CA405672487	RYR1	c.1306C>G c.1288C>G c.12896C>G (p.Ala4299Gly) c.12881C>G (p.Ala4294Gly) c.12878C>G (p.Ala4293Gly) c.12863C>G (p.Ala4288Gly) c.12893C>G (p.Ala4298Gly)
19	g.38565230C>T	CA405672488	RYR1	c.1306C>T c.1288C>T c.12896C>T (p.Ala4299Val) c.12881C>T (p.Ala4294Val) c.12878C>T (p.Ala4293Val) c.12863C>T (p.Ala4288Val) c.12893C>T (p.Ala4298Val)	dbSNP gnomAD v4
19	g.38565231G>A	CA507355543	RYR1	c.1307G>A c.1289G>A c.12897G>A (p.Ala4299=) c.12882G>A (p.Ala4294=) c.12879G>A (p.Ala4293=) c.12864G>A (p.Ala4288=) c.12894G>A (p.Ala4298=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565231G>C	CA507355544	RYR1	c.1307G>C c.1289G>C c.12897G>C (p.Ala4299=) c.12882G>C (p.Ala4294=) c.12879G>C (p.Ala4293=) c.12864G>C (p.Ala4288=) c.12894G>C (p.Ala4298=)
19	g.38565231G=	CA2335084755	RYR1	c.1307G= c.1289G= c.12897G= (p.Ala4299=) c.12882G= (p.Ala4294=) c.12879G= (p.Ala4293=) c.12864G= (p.Ala4288=) c.12894G= (p.Ala4298=)
19	g.38565231G>T	CA507355545	RYR1	c.1307G>T c.1289G>T c.12897G>T (p.Ala4299=) c.12882G>T (p.Ala4294=) c.12879G>T (p.Ala4293=) c.12864G>T (p.Ala4288=) c.12894G>T (p.Ala4298=)	ClinVar dbSNP gnomAD v4
19	g.38565231_38565232insCC	CA2529490714	RYR1	c.1307_1308insCC c.1289_1290insCC c.12897_12898insCC (p.Ala4300ProfsTer?) c.12882_12883insCC (p.Ala4295ProfsTer?) c.12879_12880insCC (p.Ala4294ProfsTer?) c.12864_12865insCC (p.Ala4289ProfsTer?) c.12894_12895insCC (p.Ala4299ProfsTer?)
19	g.38565232G>A	CA405672493	RYR1	c.1308G>A c.1290G>A c.12898G>A (p.Ala4300Thr) c.12883G>A (p.Ala4295Thr) c.12880G>A (p.Ala4294Thr) c.12865G>A (p.Ala4289Thr) c.12895G>A (p.Ala4299Thr)	gnomAD v4
19	g.38565232G>C	CA405672496	RYR1	c.1308G>C c.1290G>C c.12898G>C (p.Ala4300Pro) c.12883G>C (p.Ala4295Pro) c.12880G>C (p.Ala4294Pro) c.12865G>C (p.Ala4289Pro) c.12895G>C (p.Ala4299Pro)
19	g.38565232G>T	CA405672497	RYR1	c.1308G>T c.1290G>T c.12898G>T (p.Ala4300Ser) c.12883G>T (p.Ala4295Ser) c.12880G>T (p.Ala4294Ser) c.12865G>T (p.Ala4289Ser) c.12895G>T (p.Ala4299Ser)
19	g.38565233C>A	CA405672504	RYR1	c.1309C>A c.1291C>A c.12899C>A (p.Ala4300Asp) c.12884C>A (p.Ala4295Asp) c.12881C>A (p.Ala4294Asp) c.12866C>A (p.Ala4289Asp) c.12896C>A (p.Ala4299Asp)
19	g.38565233C=	CA2335084756	RYR1	c.1309C= c.1291C= c.12899C= (p.Ala4300=) c.12884C= (p.Ala4295=) c.12881C= (p.Ala4294=) c.12866C= (p.Ala4289=) c.12896C= (p.Ala4299=)
19	g.38565233C>G	CA405672502	RYR1	c.1309C>G c.1291C>G c.12899C>G (p.Ala4300Gly) c.12884C>G (p.Ala4295Gly) c.12881C>G (p.Ala4294Gly) c.12866C>G (p.Ala4289Gly) c.12896C>G (p.Ala4299Gly)	dbSNP
19	g.38565233C>T	CA405672501	RYR1	c.1309C>T c.1291C>T c.12899C>T (p.Ala4300Val) c.12884C>T (p.Ala4295Val) c.12881C>T (p.Ala4294Val) c.12866C>T (p.Ala4289Val) c.12896C>T (p.Ala4299Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.38565234C>A	CA507355551	RYR1	c.1310C>A c.1292C>A c.12900C>A (p.Ala4300=) c.12885C>A (p.Ala4295=) c.12882C>A (p.Ala4294=) c.12867C>A (p.Ala4289=) c.12897C>A (p.Ala4299=)
19	g.38565234C=	CA2335084757	RYR1	c.1310C= c.1292C= c.12900C= (p.Ala4300=) c.12885C= (p.Ala4295=) c.12882C= (p.Ala4294=) c.12867C= (p.Ala4289=) c.12897C= (p.Ala4299=)
19	g.38565234C>G	CA507355552	RYR1	c.1310C>G c.1292C>G c.12900C>G (p.Ala4300=) c.12885C>G (p.Ala4295=) c.12882C>G (p.Ala4294=) c.12867C>G (p.Ala4289=) c.12897C>G (p.Ala4299=)
19	g.38565234C>T	CA507355553	RYR1	c.1310C>T c.1292C>T c.12900C>T (p.Ala4300=) c.12885C>T (p.Ala4295=) c.12882C>T (p.Ala4294=) c.12867C>T (p.Ala4289=) c.12897C>T (p.Ala4299=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565235G>A	CA405672506	RYR1	c.1311G>A c.1293G>A c.12901G>A (p.Ala4301Thr) c.12886G>A (p.Ala4296Thr) c.12883G>A (p.Ala4295Thr) c.12868G>A (p.Ala4290Thr) c.12898G>A (p.Ala4300Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565235G>C	CA405672508	RYR1	c.1311G>C c.1293G>C c.12901G>C (p.Ala4301Pro) c.12886G>C (p.Ala4296Pro) c.12883G>C (p.Ala4295Pro) c.12868G>C (p.Ala4290Pro) c.12898G>C (p.Ala4300Pro)	gnomAD v4
19	g.38565235G=	CA2335084758	RYR1	c.1311G= c.1293G= c.12901G= (p.Ala4301=) c.12886G= (p.Ala4296=) c.12883G= (p.Ala4295=) c.12868G= (p.Ala4290=) c.12898G= (p.Ala4300=)
19	g.38565235G>T	CA405672509	RYR1	c.1311G>T c.1293G>T c.12901G>T (p.Ala4301Ser) c.12886G>T (p.Ala4296Ser) c.12883G>T (p.Ala4295Ser) c.12868G>T (p.Ala4290Ser) c.12898G>T (p.Ala4300Ser)	gnomAD v4
19	g.38565236C>A	CA405672511	RYR1	c.1312C>A c.1294C>A c.12902C>A (p.Ala4301Glu) c.12887C>A (p.Ala4296Glu) c.12884C>A (p.Ala4295Glu) c.12869C>A (p.Ala4290Glu) c.12899C>A (p.Ala4300Glu)	gnomAD v4
19	g.38565236C=	CA2335084759	RYR1	c.1312C= c.1294C= c.12902C= (p.Ala4301=) c.12887C= (p.Ala4296=) c.12884C= (p.Ala4295=) c.12869C= (p.Ala4290=) c.12899C= (p.Ala4300=)
19	g.38565236C>G	CA405672514	RYR1	c.1312C>G c.1294C>G c.12902C>G (p.Ala4301Gly) c.12887C>G (p.Ala4296Gly) c.12884C>G (p.Ala4295Gly) c.12869C>G (p.Ala4290Gly) c.12899C>G (p.Ala4300Gly)	gnomAD v4
19	g.38565236C>T	CA405672520	RYR1	c.1312C>T c.1294C>T c.12902C>T (p.Ala4301Val) c.12887C>T (p.Ala4296Val) c.12884C>T (p.Ala4295Val) c.12869C>T (p.Ala4290Val) c.12899C>T (p.Ala4300Val)	dbSNP gnomAD v3 gnomAD v4
19	g.38565237A>C	CA507355556	RYR1	c.1313A>C c.1295A>C c.12903A>C (p.Ala4301=) c.12888A>C (p.Ala4296=) c.12885A>C (p.Ala4295=) c.12870A>C (p.Ala4290=) c.12900A>C (p.Ala4300=)
19	g.38565237A>G	CA507355557	RYR1	c.1313A>G c.1295A>G c.12903A>G (p.Ala4301=) c.12888A>G (p.Ala4296=) c.12885A>G (p.Ala4295=) c.12870A>G (p.Ala4290=) c.12900A>G (p.Ala4300=)	gnomAD v4
19	g.38565237A>T	CA507355558	RYR1	c.1313A>T c.1295A>T c.12903A>T (p.Ala4301=) c.12888A>T (p.Ala4296=) c.12885A>T (p.Ala4295=) c.12870A>T (p.Ala4290=) c.12900A>T (p.Ala4300=)	gnomAD v4
19	g.38565238G>A	CA405672524	RYR1	c.1314G>A c.1296G>A c.12904G>A (p.Gly4302Ser) c.12889G>A (p.Gly4297Ser) c.12886G>A (p.Gly4296Ser) c.12871G>A (p.Gly4291Ser) c.12901G>A (p.Gly4301Ser)	gnomAD v4
19	g.38565238G>C	CA405672526	RYR1	c.1314G>C c.1296G>C c.12904G>C (p.Gly4302Arg) c.12889G>C (p.Gly4297Arg) c.12886G>C (p.Gly4296Arg) c.12871G>C (p.Gly4291Arg) c.12901G>C (p.Gly4301Arg)
19	g.38565238G>T	CA405672525	RYR1	c.1314G>T c.1296G>T c.12904G>T (p.Gly4302Cys) c.12889G>T (p.Gly4297Cys) c.12886G>T (p.Gly4296Cys) c.12871G>T (p.Gly4291Cys) c.12901G>T (p.Gly4301Cys)
19	g.38565239G>A	CA405672527	RYR1	c.1315G>A c.1297G>A c.12905G>A (p.Gly4302Asp) c.12890G>A (p.Gly4297Asp) c.12887G>A (p.Gly4296Asp) c.12872G>A (p.Gly4291Asp) c.12902G>A (p.Gly4301Asp)	gnomAD v4
19	g.38565239G>C	CA405672528	RYR1	c.1315G>C c.1297G>C c.12905G>C (p.Gly4302Ala) c.12890G>C (p.Gly4297Ala) c.12887G>C (p.Gly4296Ala) c.12872G>C (p.Gly4291Ala) c.12902G>C (p.Gly4301Ala)
19	g.38565239G>T	CA405672529	RYR1	c.1315G>T c.1297G>T c.12905G>T (p.Gly4302Val) c.12890G>T (p.Gly4297Val) c.12887G>T (p.Gly4296Val) c.12872G>T (p.Gly4291Val) c.12902G>T (p.Gly4301Val)	gnomAD v4
19	g.38565240C>A	CA507355564	RYR1	c.1316C>A c.1298C>A c.12906C>A (p.Gly4302=) c.12891C>A (p.Gly4297=) c.12888C>A (p.Gly4296=) c.12873C>A (p.Gly4291=) c.12903C>A (p.Gly4301=)	gnomAD v4
19	g.38565240C>G	CA507355566	RYR1	c.1316C>G c.1298C>G c.12906C>G (p.Gly4302=) c.12891C>G (p.Gly4297=) c.12888C>G (p.Gly4296=) c.12873C>G (p.Gly4291=) c.12903C>G (p.Gly4301=)
19	g.38565240C>T	CA507355565	RYR1	c.1316C>T c.1298C>T c.12906C>T (p.Gly4302=) c.12891C>T (p.Gly4297=) c.12888C>T (p.Gly4296=) c.12873C>T (p.Gly4291=) c.12903C>T (p.Gly4301=)	gnomAD v4
19	g.38565241C>A	CA507355569	RYR1	c.1317C>A c.1299C>A c.12907C>A (p.Arg4303=) c.12892C>A (p.Arg4298=) c.12889C>A (p.Arg4297=) c.12874C>A (p.Arg4292=) c.12904C>A (p.Arg4302=)	gnomAD v3 gnomAD v4
19	g.38565241C=	CA2335084760	RYR1	c.1317C= c.1299C= c.12907C= (p.Arg4303=) c.12892C= (p.Arg4298=) c.12889C= (p.Arg4297=) c.12874C= (p.Arg4292=) c.12904C= (p.Arg4302=)
19	g.38565241C>G	CA308109361	RYR1	c.1317C>G c.1299C>G c.12907C>G (p.Arg4303Gly) c.12892C>G (p.Arg4298Gly) c.12889C>G (p.Arg4297Gly) c.12874C>G (p.Arg4292Gly) c.12904C>G (p.Arg4302Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565241C>T	CA405672533	RYR1	c.1317C>T c.1299C>T c.12907C>T (p.Arg4303Trp) c.12892C>T (p.Arg4298Trp) c.12889C>T (p.Arg4297Trp) c.12874C>T (p.Arg4292Trp) c.12904C>T (p.Arg4302Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565242G>A	CA405672535	RYR1	c.1318G>A c.1300G>A c.12908G>A (p.Arg4303Gln) c.12893G>A (p.Arg4298Gln) c.12890G>A (p.Arg4297Gln) c.12875G>A (p.Arg4292Gln) c.12905G>A (p.Arg4302Gln)	dbSNP gnomAD v2 gnomAD v4
19	g.38565242G>C	CA405672538	RYR1	c.1318G>C c.1300G>C c.12908G>C (p.Arg4303Pro) c.12893G>C (p.Arg4298Pro) c.12890G>C (p.Arg4297Pro) c.12875G>C (p.Arg4292Pro) c.12905G>C (p.Arg4302Pro)
19	g.38565242G=	CA2335084761	RYR1	c.1318G= c.1300G= c.12908G= (p.Arg4303=) c.12893G= (p.Arg4298=) c.12890G= (p.Arg4297=) c.12875G= (p.Arg4292=) c.12905G= (p.Arg4302=)
19	g.38565242G>T	CA405672539	RYR1	c.1318G>T c.1300G>T c.12908G>T (p.Arg4303Leu) c.12893G>T (p.Arg4298Leu) c.12890G>T (p.Arg4297Leu) c.12875G>T (p.Arg4292Leu) c.12905G>T (p.Arg4302Leu)	gnomAD v4
19	g.38565244del	CA2814346152	RYR1	c.1320del c.1302del c.12910del (p.Ala4304ProfsTer?) c.12895del (p.Ala4299ProfsTer?) c.12892del (p.Ala4298ProfsTer?) c.12877del (p.Ala4293ProfsTer?) c.12907del (p.Ala4303ProfsTer?)
19	g.38565243G>A	CA507355572	RYR1	c.1319G>A c.1301G>A c.12909G>A (p.Arg4303=) c.12894G>A (p.Arg4298=) c.12891G>A (p.Arg4297=) c.12876G>A (p.Arg4292=) c.12906G>A (p.Arg4302=)	gnomAD v4
19	g.38565243G>C	CA507355573	RYR1	c.1319G>C c.1301G>C c.12909G>C (p.Arg4303=) c.12894G>C (p.Arg4298=) c.12891G>C (p.Arg4297=) c.12876G>C (p.Arg4292=) c.12906G>C (p.Arg4302=)	ClinVar
19	g.38565243G>T	CA507355574	RYR1	c.1319G>T c.1301G>T c.12909G>T (p.Arg4303=) c.12894G>T (p.Arg4298=) c.12891G>T (p.Arg4297=) c.12876G>T (p.Arg4292=) c.12906G>T (p.Arg4302=)
19	g.38565244G>A	CA308109364	RYR1	c.1320G>A c.1302G>A c.12910G>A (p.Ala4304Thr) c.12895G>A (p.Ala4299Thr) c.12892G>A (p.Ala4298Thr) c.12877G>A (p.Ala4293Thr) c.12907G>A (p.Ala4303Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565244G>C	CA405672542	RYR1	c.1320G>C c.1302G>C c.12910G>C (p.Ala4304Pro) c.12895G>C (p.Ala4299Pro) c.12892G>C (p.Ala4298Pro) c.12877G>C (p.Ala4293Pro) c.12907G>C (p.Ala4303Pro)
19	g.38565244G=	CA2335084762	RYR1	c.1320G= c.1302G= c.12910G= (p.Ala4304=) c.12895G= (p.Ala4299=) c.12892G= (p.Ala4298=) c.12877G= (p.Ala4293=) c.12907G= (p.Ala4303=)
19	g.38565244G>T	CA405672544	RYR1	c.1320G>T c.1302G>T c.12910G>T (p.Ala4304Ser) c.12895G>T (p.Ala4299Ser) c.12892G>T (p.Ala4298Ser) c.12877G>T (p.Ala4293Ser) c.12907G>T (p.Ala4303Ser)	gnomAD v4
19	g.38565245C>A	CA405672551	RYR1	c.1321C>A c.1303C>A c.12911C>A (p.Ala4304Asp) c.12896C>A (p.Ala4299Asp) c.12893C>A (p.Ala4298Asp) c.12878C>A (p.Ala4293Asp) c.12908C>A (p.Ala4303Asp)	gnomAD v4
19	g.38565245C>G	CA405672550	RYR1	c.1321C>G c.1303C>G c.12911C>G (p.Ala4304Gly) c.12896C>G (p.Ala4299Gly) c.12893C>G (p.Ala4298Gly) c.12878C>G (p.Ala4293Gly) c.12908C>G (p.Ala4303Gly)
19	g.38565245C>T	CA405672547	RYR1	c.1321C>T c.1303C>T c.12911C>T (p.Ala4304Val) c.12896C>T (p.Ala4299Val) c.12893C>T (p.Ala4298Val) c.12878C>T (p.Ala4293Val) c.12908C>T (p.Ala4303Val)	gnomAD v4
19	g.38565247del	CA2584909131	RYR1	c.1323del c.1305del c.12913del (p.Leu4305CysfsTer?) c.12898del (p.Leu4300CysfsTer?) c.12895del (p.Leu4299CysfsTer?) c.12880del (p.Leu4294CysfsTer?) c.12910del (p.Leu4304CysfsTer?)	gnomAD v4
19	g.38565246C>A	CA507355579	RYR1	c.1322C>A c.1304C>A c.12912C>A (p.Ala4304=) c.12897C>A (p.Ala4299=) c.12894C>A (p.Ala4298=) c.12879C>A (p.Ala4293=) c.12909C>A (p.Ala4303=)
19	g.38565246C=	CA2335084763	RYR1	c.1322C= c.1304C= c.12912C= (p.Ala4304=) c.12897C= (p.Ala4299=) c.12894C= (p.Ala4298=) c.12879C= (p.Ala4293=) c.12909C= (p.Ala4303=)
19	g.38565246C>G	CA507355580	RYR1	c.1322C>G c.1304C>G c.12912C>G (p.Ala4304=) c.12897C>G (p.Ala4299=) c.12894C>G (p.Ala4298=) c.12879C>G (p.Ala4293=) c.12909C>G (p.Ala4303=)
19	g.38565246C>T	CA507355581	RYR1	c.1322C>T c.1304C>T c.12912C>T (p.Ala4304=) c.12897C>T (p.Ala4299=) c.12894C>T (p.Ala4298=) c.12879C>T (p.Ala4293=) c.12909C>T (p.Ala4303=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565247C>A	CA405672553	RYR1	c.1323C>A c.1305C>A c.12913C>A (p.Leu4305Met) c.12898C>A (p.Leu4300Met) c.12895C>A (p.Leu4299Met) c.12880C>A (p.Leu4294Met) c.12910C>A (p.Leu4304Met)
19	g.38565247C>G	CA405672555	RYR1	c.1323C>G c.1305C>G c.12913C>G (p.Leu4305Val) c.12898C>G (p.Leu4300Val) c.12895C>G (p.Leu4299Val) c.12880C>G (p.Leu4294Val) c.12910C>G (p.Leu4304Val)
19	g.38565247C>T	CA507355583	RYR1	c.1323C>T c.1305C>T c.12913C>T (p.Leu4305=) c.12898C>T (p.Leu4300=) c.12895C>T (p.Leu4299=) c.12880C>T (p.Leu4294=) c.12910C>T (p.Leu4304=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565248T>A	CA405672557	RYR1	c.1324T>A c.1306T>A c.12914T>A (p.Leu4305Gln) c.12899T>A (p.Leu4300Gln) c.12896T>A (p.Leu4299Gln) c.12881T>A (p.Leu4294Gln) c.12911T>A (p.Leu4304Gln)
19	g.38565248T>C	CA405672559	RYR1	c.1324T>C c.1306T>C c.12914T>C (p.Leu4305Pro) c.12899T>C (p.Leu4300Pro) c.12896T>C (p.Leu4299Pro) c.12881T>C (p.Leu4294Pro) c.12911T>C (p.Leu4304Pro)	dbSNP gnomAD v3 gnomAD v4
19	g.38565248T>G	CA405672562	RYR1	c.1324T>G c.1306T>G c.12914T>G (p.Leu4305Arg) c.12899T>G (p.Leu4300Arg) c.12896T>G (p.Leu4299Arg) c.12881T>G (p.Leu4294Arg) c.12911T>G (p.Leu4304Arg)	dbSNP
19	g.38565248T=	CA2335084764	RYR1	c.1324T= c.1306T= c.12914T= (p.Leu4305=) c.12899T= (p.Leu4300=) c.12896T= (p.Leu4299=) c.12881T= (p.Leu4294=) c.12911T= (p.Leu4304=)
19	g.38565249G>A	CA507355585	RYR1	c.1325G>A c.1307G>A c.12915G>A (p.Leu4305=) c.12900G>A (p.Leu4300=) c.12897G>A (p.Leu4299=) c.12882G>A (p.Leu4294=) c.12912G>A (p.Leu4304=)	gnomAD v4
19	g.38565249G>C	CA507355586	RYR1	c.1325G>C c.1307G>C c.12915G>C (p.Leu4305=) c.12900G>C (p.Leu4300=) c.12897G>C (p.Leu4299=) c.12882G>C (p.Leu4294=) c.12912G>C (p.Leu4304=)
19	g.38565249G>T	CA507355587	RYR1	c.1325G>T c.1307G>T c.12915G>T (p.Leu4305=) c.12900G>T (p.Leu4300=) c.12897G>T (p.Leu4299=) c.12882G>T (p.Leu4294=) c.12912G>T (p.Leu4304=)
19	g.38565250C>A	CA507355589	RYR1	c.1326C>A c.1308C>A c.12916C>A (p.Arg4306=) c.12901C>A (p.Arg4301=) c.12898C>A (p.Arg4300=) c.12883C>A (p.Arg4295=) c.12913C>A (p.Arg4305=)	gnomAD v4
19	g.38565250C=	CA2335084765	RYR1	c.1326C= c.1308C= c.12916C= (p.Arg4306=) c.12901C= (p.Arg4301=) c.12898C= (p.Arg4300=) c.12883C= (p.Arg4295=) c.12913C= (p.Arg4305=)
19	g.38565250C>G	CA405672563	RYR1	c.1326C>G c.1308C>G c.12916C>G (p.Arg4306Gly) c.12901C>G (p.Arg4301Gly) c.12898C>G (p.Arg4300Gly) c.12883C>G (p.Arg4295Gly) c.12913C>G (p.Arg4305Gly)
19	g.38565250C>T	CA405672565	RYR1	c.1326C>T c.1308C>T c.12916C>T (p.Arg4306Ter) c.12901C>T (p.Arg4301Ter) c.12898C>T (p.Arg4300Ter) c.12883C>T (p.Arg4295Ter) c.12913C>T (p.Arg4305Ter)	ClinVar dbSNP gnomAD v4
19	g.38565251G>A	CA405672567	RYR1	c.1327G>A c.1309G>A c.12917G>A (p.Arg4306Gln) c.12902G>A (p.Arg4301Gln) c.12899G>A (p.Arg4300Gln) c.12884G>A (p.Arg4295Gln) c.12914G>A (p.Arg4305Gln)	ClinVar dbSNP gnomAD v4
19	g.38565251G>C	CA405672570	RYR1	c.1327G>C c.1309G>C c.12917G>C (p.Arg4306Pro) c.12902G>C (p.Arg4301Pro) c.12899G>C (p.Arg4300Pro) c.12884G>C (p.Arg4295Pro) c.12914G>C (p.Arg4305Pro)
19	g.38565251G>T	CA405672572	RYR1	c.1327G>T c.1309G>T c.12917G>T (p.Arg4306Leu) c.12902G>T (p.Arg4301Leu) c.12899G>T (p.Arg4300Leu) c.12884G>T (p.Arg4295Leu) c.12914G>T (p.Arg4305Leu)
19	g.38565252A>C	CA507355594	RYR1	c.1328A>C c.1310A>C c.12918A>C (p.Arg4306=) c.12903A>C (p.Arg4301=) c.12900A>C (p.Arg4300=) c.12885A>C (p.Arg4295=) c.12915A>C (p.Arg4305=)
19	g.38565252A>G	CA507355596	RYR1	c.1328A>G c.1310A>G c.12918A>G (p.Arg4306=) c.12903A>G (p.Arg4301=) c.12900A>G (p.Arg4300=) c.12885A>G (p.Arg4295=) c.12915A>G (p.Arg4305=)	dbSNP gnomAD v4
19	g.38565252A>T	CA507355595	RYR1	c.1328A>T c.1310A>T c.12918A>T (p.Arg4306=) c.12903A>T (p.Arg4301=) c.12900A>T (p.Arg4300=) c.12885A>T (p.Arg4295=) c.12915A>T (p.Arg4305=)
19	g.38565253G>A	CA405672574	RYR1	c.1329G>A c.1311G>A c.12919G>A (p.Gly4307Ser) c.12904G>A (p.Gly4302Ser) c.12901G>A (p.Gly4301Ser) c.12886G>A (p.Gly4296Ser) c.12916G>A (p.Gly4306Ser)
19	g.38565253G>C	CA405672575	RYR1	c.1329G>C c.1311G>C c.12919G>C (p.Gly4307Arg) c.12904G>C (p.Gly4302Arg) c.12901G>C (p.Gly4301Arg) c.12886G>C (p.Gly4296Arg) c.12916G>C (p.Gly4306Arg)	gnomAD v4
19	g.38565253G=	CA2335084766	RYR1	c.1329G= c.1311G= c.12919G= (p.Gly4307=) c.12904G= (p.Gly4302=) c.12901G= (p.Gly4301=) c.12886G= (p.Gly4296=) c.12916G= (p.Gly4306=)
19	g.38565253G>T	CA405672577	RYR1	c.1329G>T c.1311G>T c.12919G>T (p.Gly4307Cys) c.12904G>T (p.Gly4302Cys) c.12901G>T (p.Gly4301Cys) c.12886G>T (p.Gly4296Cys) c.12916G>T (p.Gly4306Cys)	dbSNP gnomAD v4
19	g.38565254G>A	CA405672584	RYR1	c.1330G>A c.1312G>A c.12920G>A (p.Gly4307Asp) c.12905G>A (p.Gly4302Asp) c.12902G>A (p.Gly4301Asp) c.12887G>A (p.Gly4296Asp) c.12917G>A (p.Gly4306Asp)	dbSNP gnomAD v4
19	g.38565254G>C	CA405672583	RYR1	c.1330G>C c.1312G>C c.12920G>C (p.Gly4307Ala) c.12905G>C (p.Gly4302Ala) c.12902G>C (p.Gly4301Ala) c.12887G>C (p.Gly4296Ala) c.12917G>C (p.Gly4306Ala)	gnomAD v4
19	g.38565254G=	CA2335084767	RYR1	c.1330G= c.1312G= c.12920G= (p.Gly4307=) c.12905G= (p.Gly4302=) c.12902G= (p.Gly4301=) c.12887G= (p.Gly4296=) c.12917G= (p.Gly4306=)
19	g.38565254G>T	CA405672580	RYR1	c.1330G>T c.1312G>T c.12920G>T (p.Gly4307Val) c.12905G>T (p.Gly4302Val) c.12902G>T (p.Gly4301Val) c.12887G>T (p.Gly4296Val) c.12917G>T (p.Gly4306Val)	dbSNP gnomAD v4
19	g.38565255C>A	CA507355602	RYR1	c.1331C>A c.1313C>A c.12921C>A (p.Gly4307=) c.12906C>A (p.Gly4302=) c.12903C>A (p.Gly4301=) c.12888C>A (p.Gly4296=) c.12918C>A (p.Gly4306=)	gnomAD v4
19	g.38565255C=	CA2335084768	RYR1	c.1331C= c.1313C= c.12921C= (p.Gly4307=) c.12906C= (p.Gly4302=) c.12903C= (p.Gly4301=) c.12888C= (p.Gly4296=) c.12918C= (p.Gly4306=)
19	g.38565255C>G	CA507355603	RYR1	c.1331C>G c.1313C>G c.12921C>G (p.Gly4307=) c.12906C>G (p.Gly4302=) c.12903C>G (p.Gly4301=) c.12888C>G (p.Gly4296=) c.12918C>G (p.Gly4306=)
19	g.38565255C>T	CA507355605	RYR1	c.1331C>T c.1313C>T c.12921C>T (p.Gly4307=) c.12906C>T (p.Gly4302=) c.12903C>T (p.Gly4301=) c.12888C>T (p.Gly4296=) c.12918C>T (p.Gly4306=)	dbSNP
19	g.38565256C>A	CA405672587	RYR1	c.1332C>A c.1314C>A c.12922C>A (p.Leu4308Ile) c.12907C>A (p.Leu4303Ile) c.12904C>A (p.Leu4302Ile) c.12889C>A (p.Leu4297Ile) c.12919C>A (p.Leu4307Ile)	dbSNP gnomAD v4
19	g.38565256C=	CA2335084769	RYR1	c.1332C= c.1314C= c.12922C= (p.Leu4308=) c.12907C= (p.Leu4303=) c.12904C= (p.Leu4302=) c.12889C= (p.Leu4297=) c.12919C= (p.Leu4307=)
19	g.38565256C>G	CA405672590	RYR1	c.1332C>G c.1314C>G c.12922C>G (p.Leu4308Val) c.12907C>G (p.Leu4303Val) c.12904C>G (p.Leu4302Val) c.12889C>G (p.Leu4297Val) c.12919C>G (p.Leu4307Val)
19	g.38565256C>T	CA405672592	RYR1	c.1332C>T c.1314C>T c.12922C>T (p.Leu4308Phe) c.12907C>T (p.Leu4303Phe) c.12904C>T (p.Leu4302Phe) c.12889C>T (p.Leu4297Phe) c.12919C>T (p.Leu4307Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565257T>A	CA405672595	RYR1	c.1333T>A c.1315T>A c.12923T>A (p.Leu4308His) c.12908T>A (p.Leu4303His) c.12905T>A (p.Leu4302His) c.12890T>A (p.Leu4297His) c.12920T>A (p.Leu4307His)	dbSNP
19	g.38565257T>C	CA308109368	RYR1	c.1333T>C c.1315T>C c.12923T>C (p.Leu4308Pro) c.12908T>C (p.Leu4303Pro) c.12905T>C (p.Leu4302Pro) c.12890T>C (p.Leu4297Pro) c.12920T>C (p.Leu4307Pro)	dbSNP gnomAD v4
19	g.38565257T>G	CA405672597	RYR1	c.1333T>G c.1315T>G c.12923T>G (p.Leu4308Arg) c.12908T>G (p.Leu4303Arg) c.12905T>G (p.Leu4302Arg) c.12890T>G (p.Leu4297Arg) c.12920T>G (p.Leu4307Arg)
19	g.38565257T=	CA2335084770	RYR1	c.1333T= c.1315T= c.12923T= (p.Leu4308=) c.12908T= (p.Leu4303=) c.12905T= (p.Leu4302=) c.12890T= (p.Leu4297=) c.12920T= (p.Leu4307=)
19	g.38565258C>A	CA507355610	RYR1	c.1334C>A c.1316C>A c.12924C>A (p.Leu4308=) c.12909C>A (p.Leu4303=) c.12906C>A (p.Leu4302=) c.12891C>A (p.Leu4297=) c.12921C>A (p.Leu4307=)	gnomAD v4
19	g.38565258C>G	CA507355611	RYR1	c.1334C>G c.1316C>G c.12924C>G (p.Leu4308=) c.12909C>G (p.Leu4303=) c.12906C>G (p.Leu4302=) c.12891C>G (p.Leu4297=) c.12921C>G (p.Leu4307=)
19	g.38565258C>T	CA507355612	RYR1	c.1334C>T c.1316C>T c.12924C>T (p.Leu4308=) c.12909C>T (p.Leu4303=) c.12906C>T (p.Leu4302=) c.12891C>T (p.Leu4297=) c.12921C>T (p.Leu4307=)	ClinVar dbSNP gnomAD v4
19	g.38565259A>C	CA405672598	RYR1	c.1335A>C c.1317A>C c.12925A>C (p.Ser4309Arg) c.12910A>C (p.Ser4304Arg) c.12907A>C (p.Ser4303Arg) c.12892A>C (p.Ser4298Arg) c.12922A>C (p.Ser4308Arg)	gnomAD v4
19	g.38565259A>G	CA405672601	RYR1	c.1335A>G c.1317A>G c.12925A>G (p.Ser4309Gly) c.12910A>G (p.Ser4304Gly) c.12907A>G (p.Ser4303Gly) c.12892A>G (p.Ser4298Gly) c.12922A>G (p.Ser4308Gly)	gnomAD v4
19	g.38565259A>T	CA405672604	RYR1	c.1335A>T c.1317A>T c.12925A>T (p.Ser4309Cys) c.12910A>T (p.Ser4304Cys) c.12907A>T (p.Ser4303Cys) c.12892A>T (p.Ser4298Cys) c.12922A>T (p.Ser4308Cys)
19	g.38565259_38565260del	CA2584909132	RYR1	c.1335_1336del c.1317_1318del c.12925_12926del (p.Ser4309LeufsTer?) c.12910_12911del (p.Ser4304LeufsTer?) c.12907_12908del (p.Ser4303LeufsTer?) c.12892_12893del (p.Ser4298LeufsTer?) c.12922_12923del (p.Ser4308LeufsTer?)	gnomAD v4
19	g.38565260_38565263del	CA2576772100	RYR1	c.1336_1339del c.1318_1321del c.12926_12929del (p.Ser4309ThrfsTer?) c.12911_12914del (p.Ser4304ThrfsTer?) c.12908_12911del (p.Ser4303ThrfsTer?) c.12893_12896del (p.Ser4298ThrfsTer?) c.12923_12926del (p.Ser4308ThrfsTer?)	ClinVar
19	g.38565260G>A	CA405672607	RYR1	c.1336G>A c.1318G>A c.12926G>A (p.Ser4309Asn) c.12911G>A (p.Ser4304Asn) c.12908G>A (p.Ser4303Asn) c.12893G>A (p.Ser4298Asn) c.12923G>A (p.Ser4308Asn)
19	g.38565260G>C	CA405672608	RYR1	c.1336G>C c.1318G>C c.12926G>C (p.Ser4309Thr) c.12911G>C (p.Ser4304Thr) c.12908G>C (p.Ser4303Thr) c.12893G>C (p.Ser4298Thr) c.12923G>C (p.Ser4308Thr)	dbSNP
19	g.38565260G=	CA2335084771	RYR1	c.1336G= c.1318G= c.12926G= (p.Ser4309=) c.12911G= (p.Ser4304=) c.12908G= (p.Ser4303=) c.12893G= (p.Ser4298=) c.12923G= (p.Ser4308=)
19	g.38565260G>T	CA405672611	RYR1	c.1336G>T c.1318G>T c.12926G>T (p.Ser4309Ile) c.12911G>T (p.Ser4304Ile) c.12908G>T (p.Ser4303Ile) c.12893G>T (p.Ser4298Ile) c.12923G>T (p.Ser4308Ile)	ClinVar gnomAD v4
19	g.38565261C>A	CA405672615	RYR1	c.1337C>A c.1319C>A c.12927C>A (p.Ser4309Arg) c.12912C>A (p.Ser4304Arg) c.12909C>A (p.Ser4303Arg) c.12894C>A (p.Ser4298Arg) c.12924C>A (p.Ser4308Arg)	gnomAD v4
19	g.38565261C>G	CA405672616	RYR1	c.1337C>G c.1319C>G c.12927C>G (p.Ser4309Arg) c.12912C>G (p.Ser4304Arg) c.12909C>G (p.Ser4303Arg) c.12894C>G (p.Ser4298Arg) c.12924C>G (p.Ser4308Arg)
19	g.38565261C>T	CA507355620	RYR1	c.1337C>T c.1319C>T c.12927C>T (p.Ser4309=) c.12912C>T (p.Ser4304=) c.12909C>T (p.Ser4303=) c.12894C>T (p.Ser4298=) c.12924C>T (p.Ser4308=)	gnomAD v4
19	g.38565262T>A	CA405672622	RYR1	c.1338T>A c.1320T>A c.12928T>A (p.Tyr4310Asn) c.12913T>A (p.Tyr4305Asn) c.12910T>A (p.Tyr4304Asn) c.12895T>A (p.Tyr4299Asn) c.12925T>A (p.Tyr4309Asn)
19	g.38565262T>C	CA405672623	RYR1	c.1338T>C c.1320T>C c.12928T>C (p.Tyr4310His) c.12913T>C (p.Tyr4305His) c.12910T>C (p.Tyr4304His) c.12895T>C (p.Tyr4299His) c.12925T>C (p.Tyr4309His)	gnomAD v4
19	g.38565262T>G	CA405672619	RYR1	c.1338T>G c.1320T>G c.12928T>G (p.Tyr4310Asp) c.12913T>G (p.Tyr4305Asp) c.12910T>G (p.Tyr4304Asp) c.12895T>G (p.Tyr4299Asp) c.12925T>G (p.Tyr4309Asp)
19	g.38565263A>C	CA405672625	RYR1	c.1339A>C c.1321A>C c.12929A>C (p.Tyr4310Ser) c.12914A>C (p.Tyr4305Ser) c.12911A>C (p.Tyr4304Ser) c.12896A>C (p.Tyr4299Ser) c.12926A>C (p.Tyr4309Ser)	gnomAD v4
19	g.38565263A>G	CA405672628	RYR1	c.1339A>G c.1321A>G c.12929A>G (p.Tyr4310Cys) c.12914A>G (p.Tyr4305Cys) c.12911A>G (p.Tyr4304Cys) c.12896A>G (p.Tyr4299Cys) c.12926A>G (p.Tyr4309Cys)
19	g.38565263A>T	CA405672630	RYR1	c.1339A>T c.1321A>T c.12929A>T (p.Tyr4310Phe) c.12914A>T (p.Tyr4305Phe) c.12911A>T (p.Tyr4304Phe) c.12896A>T (p.Tyr4299Phe) c.12926A>T (p.Tyr4309Phe)
19	g.38565264C>A	CA405672633	RYR1	c.1340C>A c.1322C>A c.12930C>A (p.Tyr4310Ter) c.12915C>A (p.Tyr4305Ter) c.12912C>A (p.Tyr4304Ter) c.12897C>A (p.Tyr4299Ter) c.12927C>A (p.Tyr4309Ter)
19	g.38565264C>G	CA405672634	RYR1	c.1340C>G c.1322C>G c.12930C>G (p.Tyr4310Ter) c.12915C>G (p.Tyr4305Ter) c.12912C>G (p.Tyr4304Ter) c.12897C>G (p.Tyr4299Ter) c.12927C>G (p.Tyr4309Ter)
19	g.38565264C>T	CA507355628	RYR1	c.1340C>T c.1322C>T c.12930C>T (p.Tyr4310=) c.12915C>T (p.Tyr4305=) c.12912C>T (p.Tyr4304=) c.12897C>T (p.Tyr4299=) c.12927C>T (p.Tyr4309=)	gnomAD v4
19	g.38565265C>A	CA405672636	RYR1	c.1341C>A c.1323C>A c.12931C>A (p.Arg4311Ser) c.12916C>A (p.Arg4306Ser) c.12913C>A (p.Arg4305Ser) c.12898C>A (p.Arg4300Ser) c.12928C>A (p.Arg4310Ser)	ClinVar dbSNP gnomAD v4
19	g.38565265C=	CA2335084772	RYR1	c.1341C= c.1323C= c.12931C= (p.Arg4311=) c.12916C= (p.Arg4306=) c.12913C= (p.Arg4305=) c.12898C= (p.Arg4300=) c.12928C= (p.Arg4310=)
19	g.38565265C>G	CA405672638	RYR1	c.1341C>G c.1323C>G c.12931C>G (p.Arg4311Gly) c.12916C>G (p.Arg4306Gly) c.12913C>G (p.Arg4305Gly) c.12898C>G (p.Arg4300Gly) c.12928C>G (p.Arg4310Gly)	gnomAD v4
19	g.38565265C>T	CA405672640	RYR1	c.1341C>T c.1323C>T c.12931C>T (p.Arg4311Cys) c.12916C>T (p.Arg4306Cys) c.12913C>T (p.Arg4305Cys) c.12898C>T (p.Arg4300Cys) c.12928C>T (p.Arg4310Cys)	dbSNP gnomAD v4
19	g.38565266G>A	CA405672643	RYR1	c.1342G>A c.1324G>A c.12932G>A (p.Arg4311His) c.12917G>A (p.Arg4306His) c.12914G>A (p.Arg4305His) c.12899G>A (p.Arg4300His) c.12929G>A (p.Arg4310His)	gnomAD v4
19	g.38565266G>C	CA405672644	RYR1	c.1342G>C c.1324G>C c.12932G>C (p.Arg4311Pro) c.12917G>C (p.Arg4306Pro) c.12914G>C (p.Arg4305Pro) c.12899G>C (p.Arg4300Pro) c.12929G>C (p.Arg4310Pro)	gnomAD v4
19	g.38565266G>T	CA405672646	RYR1	c.1342G>T c.1324G>T c.12932G>T (p.Arg4311Leu) c.12917G>T (p.Arg4306Leu) c.12914G>T (p.Arg4305Leu) c.12899G>T (p.Arg4300Leu) c.12929G>T (p.Arg4310Leu)	gnomAD v4
19	g.38565267C>A	CA507355633	RYR1	c.1343C>A c.1325C>A c.12933C>A (p.Arg4311=) c.12918C>A (p.Arg4306=) c.12915C>A (p.Arg4305=) c.12900C>A (p.Arg4300=) c.12930C>A (p.Arg4310=)	gnomAD v4
19	g.38565267C>G	CA507355635	RYR1	c.1343C>G c.1325C>G c.12933C>G (p.Arg4311=) c.12918C>G (p.Arg4306=) c.12915C>G (p.Arg4305=) c.12900C>G (p.Arg4300=) c.12930C>G (p.Arg4310=)
19	g.38565267C>T	CA507355637	RYR1	c.1343C>T c.1325C>T c.12933C>T (p.Arg4311=) c.12918C>T (p.Arg4306=) c.12915C>T (p.Arg4305=) c.12900C>T (p.Arg4300=) c.12930C>T (p.Arg4310=)	ClinVar gnomAD v4
19	g.38565268A>C	CA405672652	RYR1	c.1344A>C c.1326A>C c.12934A>C (p.Ser4312Arg) c.12919A>C (p.Ser4307Arg) c.12916A>C (p.Ser4306Arg) c.12901A>C (p.Ser4301Arg) c.12931A>C (p.Ser4311Arg)
19	g.38565268A>G	CA405672651	RYR1	c.1344A>G c.1326A>G c.12934A>G (p.Ser4312Gly) c.12919A>G (p.Ser4307Gly) c.12916A>G (p.Ser4306Gly) c.12901A>G (p.Ser4301Gly) c.12931A>G (p.Ser4311Gly)
19	g.38565268A>T	CA405672650	RYR1	c.1344A>T c.1326A>T c.12934A>T (p.Ser4312Cys) c.12919A>T (p.Ser4307Cys) c.12916A>T (p.Ser4306Cys) c.12901A>T (p.Ser4301Cys) c.12931A>T (p.Ser4311Cys)
19	g.38565268_38565280delinsAGCCTGCGGCGGC	CA2335084773	RYR1	c.1344_1356delinsAGCCTGCGGCGGC c.1326_1338delinsAGCCTGCGGCGGC c.12934_12946delinsAGCCTGCGGCGGC (p.Ser4312=) c.12919_12931delinsAGCCTGCGGCGGC (p.Ser4307=) c.12916_12928delinsAGCCTGCGGCGGC (p.Ser4306=) c.12901_12913delinsAGCCTGCGGCGGC (p.Ser4301=) c.12931_12943delinsAGCCTGCGGCGGC (p.Ser4311=)
19	g.38565269G>A	CA405672653	RYR1	c.1345G>A c.1327G>A c.12935G>A (p.Ser4312Asn) c.12920G>A (p.Ser4307Asn) c.12917G>A (p.Ser4306Asn) c.12902G>A (p.Ser4301Asn) c.12932G>A (p.Ser4311Asn)	gnomAD v4
19	g.38565269G>C	CA405672654	RYR1	c.1345G>C c.1327G>C c.12935G>C (p.Ser4312Thr) c.12920G>C (p.Ser4307Thr) c.12917G>C (p.Ser4306Thr) c.12902G>C (p.Ser4301Thr) c.12932G>C (p.Ser4311Thr)
19	g.38565269G>T	CA405672657	RYR1	c.1345G>T c.1327G>T c.12935G>T (p.Ser4312Ile) c.12920G>T (p.Ser4307Ile) c.12917G>T (p.Ser4306Ile) c.12902G>T (p.Ser4301Ile) c.12932G>T (p.Ser4311Ile)	gnomAD v4
19	g.38565271_38565282del	CA882058704	RYR1	c.1347_1358del c.1329_1340del c.12937_12948del (p.Leu4313_Arg4316del) c.12922_12933del (p.Leu4308_Arg4311del) c.12919_12930del (p.Leu4307_Arg4310del) c.12904_12915del (p.Leu4302_Arg4305del) c.12934_12945del (p.Leu4312_Arg4315del)	dbSNP
19	g.38565270_38565290dup	CA2580097183	RYR1	c.1346_1366dup c.1328_1348dup c.12936_12956dup (p.Arg4319_Leu4320insLeuArgArgArgValArgArg) c.12921_12941dup (p.Arg4314_Leu4315insLeuArgArgArgValArgArg) c.12918_12938dup (p.Arg4313_Leu4314insLeuArgArgArgValArgArg) c.12903_12923dup (p.Arg4308_Leu4309insLeuArgArgArgValArgArg) c.12933_12953dup (p.Arg4318_Leu4319insLeuArgArgArgValArgArg)	ClinVar
19	g.38565270C>A	CA405672658	RYR1	c.1346C>A c.1328C>A c.12936C>A (p.Ser4312Arg) c.12921C>A (p.Ser4307Arg) c.12918C>A (p.Ser4306Arg) c.12903C>A (p.Ser4301Arg) c.12933C>A (p.Ser4311Arg)	gnomAD v4
19	g.38565270C=	CA2335084774	RYR1	c.1346C= c.1328C= c.12936C= (p.Ser4312=) c.12921C= (p.Ser4307=) c.12918C= (p.Ser4306=) c.12903C= (p.Ser4301=) c.12933C= (p.Ser4311=)
19	g.38565270C>G	CA405672661	RYR1	c.1346C>G c.1328C>G c.12936C>G (p.Ser4312Arg) c.12921C>G (p.Ser4307Arg) c.12918C>G (p.Ser4306Arg) c.12903C>G (p.Ser4301Arg) c.12933C>G (p.Ser4311Arg)	gnomAD v4
19	g.38565270C>T	CA507355646	RYR1	c.1346C>T c.1328C>T c.12936C>T (p.Ser4312=) c.12921C>T (p.Ser4307=) c.12918C>T (p.Ser4306=) c.12903C>T (p.Ser4301=) c.12933C>T (p.Ser4311=)
19	g.38565271C>A	CA405672662	RYR1	c.1347C>A c.1329C>A c.12937C>A (p.Leu4313Met) c.12922C>A (p.Leu4308Met) c.12919C>A (p.Leu4307Met) c.12904C>A (p.Leu4302Met) c.12934C>A (p.Leu4312Met)	gnomAD v4
19	g.38565271C=	CA2335084776	RYR1	c.1347C= c.1329C= c.12937C= (p.Leu4313=) c.12922C= (p.Leu4308=) c.12919C= (p.Leu4307=) c.12904C= (p.Leu4302=) c.12934C= (p.Leu4312=)
19	g.38565271C>G	CA405672665	RYR1	c.1347C>G c.1329C>G c.12937C>G (p.Leu4313Val) c.12922C>G (p.Leu4308Val) c.12919C>G (p.Leu4307Val) c.12904C>G (p.Leu4302Val) c.12934C>G (p.Leu4312Val)
19	g.38565271C>T	CA507355647	RYR1	c.1347C>T c.1329C>T c.12937C>T (p.Leu4313=) c.12922C>T (p.Leu4308=) c.12919C>T (p.Leu4307=) c.12904C>T (p.Leu4302=) c.12934C>T (p.Leu4312=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565271_38565283delinsCTGCGGCGGCGCG	CA2335084775	RYR1	c.1347_1359delinsCTGCGGCGGCGCG c.1329_1341delinsCTGCGGCGGCGCG c.12937_12949delinsCTGCGGCGGCGCG (p.Leu4313=) c.12922_12934delinsCTGCGGCGGCGCG (p.Leu4308=) c.12919_12931delinsCTGCGGCGGCGCG (p.Leu4307=) c.12904_12916delinsCTGCGGCGGCGCG (p.Leu4302=) c.12934_12946delinsCTGCGGCGGCGCG (p.Leu4312=)
19	g.38565281_38565301dup	CA633066824	RYR1	c.1357_1377dup c.1339_1359dup c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg) c.12932_12952dup (p.Arg4317_Leu4318insArgValArgArgLeuArgArg) c.12929_12949dup (p.Arg4316_Leu4317insArgValArgArgLeuArgArg) c.12914_12934dup (p.Arg4311_Leu4312insArgValArgArgLeuArgArg) c.12944_12964dup (p.Arg4321_Leu4322insArgValArgArgLeuArgArg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565281_38565301del	CA2584909133	RYR1	c.1357_1377del c.1339_1359del c.12947_12967del (p.Arg4316_Arg4322del) c.12932_12952del (p.Arg4311_Arg4317del) c.12929_12949del (p.Arg4310_Arg4316del) c.12914_12934del (p.Arg4305_Arg4311del) c.12944_12964del (p.Arg4315_Arg4321del)	gnomAD v4
19	g.38565272T>A	CA405672666	RYR1	c.1348T>A c.1330T>A c.12938T>A (p.Leu4313Gln) c.12923T>A (p.Leu4308Gln) c.12920T>A (p.Leu4307Gln) c.12905T>A (p.Leu4302Gln) c.12935T>A (p.Leu4312Gln)	gnomAD v4
19	g.38565272T>C	CA405672668	RYR1	c.1348T>C c.1330T>C c.12938T>C (p.Leu4313Pro) c.12923T>C (p.Leu4308Pro) c.12920T>C (p.Leu4307Pro) c.12905T>C (p.Leu4302Pro) c.12935T>C (p.Leu4312Pro)	gnomAD v4
19	g.38565272T>G	CA405672671	RYR1	c.1348T>G c.1330T>G c.12938T>G (p.Leu4313Arg) c.12923T>G (p.Leu4308Arg) c.12920T>G (p.Leu4307Arg) c.12905T>G (p.Leu4302Arg) c.12935T>G (p.Leu4312Arg)
19	g.38565281_38565292dup	CA633066826	RYR1	c.1357_1368dup c.1339_1350dup c.12947_12958dup (p.Arg4319_Leu4320insArgValArgArg) c.12932_12943dup (p.Arg4314_Leu4315insArgValArgArg) c.12929_12940dup (p.Arg4313_Leu4314insArgValArgArg) c.12914_12925dup (p.Arg4308_Leu4309insArgValArgArg) c.12944_12955dup (p.Arg4318_Leu4319insArgValArgArg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565281_38565292del	CA633066825	RYR1	c.1357_1368del c.1339_1350del c.12947_12958del (p.Arg4316_Arg4319del) c.12932_12943del (p.Arg4311_Arg4314del) c.12929_12940del (p.Arg4310_Arg4313del) c.12914_12925del (p.Arg4305_Arg4308del) c.12944_12955del (p.Arg4315_Arg4318del)	dbSNP gnomAD v2 gnomAD v4
19	g.38565273G>A	CA507355650	RYR1	c.1349G>A c.1331G>A c.12939G>A (p.Leu4313=) c.12924G>A (p.Leu4308=) c.12921G>A (p.Leu4307=) c.12906G>A (p.Leu4302=) c.12936G>A (p.Leu4312=)	ClinVar gnomAD v4
19	g.38565273G>C	CA507355652	RYR1	c.1349G>C c.1331G>C c.12939G>C (p.Leu4313=) c.12924G>C (p.Leu4308=) c.12921G>C (p.Leu4307=) c.12906G>C (p.Leu4302=) c.12936G>C (p.Leu4312=)
19	g.38565273G>T	CA507355653	RYR1	c.1349G>T c.1331G>T c.12939G>T (p.Leu4313=) c.12924G>T (p.Leu4308=) c.12921G>T (p.Leu4307=) c.12906G>T (p.Leu4302=) c.12936G>T (p.Leu4312=)	gnomAD v4
19	g.38565279_38565281del	CA2584909134	RYR1	c.1355_1357del c.1337_1339del c.12945_12947del (p.Arg4316del) c.12930_12932del (p.Arg4311del) c.12927_12929del (p.Arg4310del) c.12912_12914del (p.Arg4305del) c.12942_12944del (p.Arg4315del)	gnomAD v4
19	g.38565274C>A	CA507355654	RYR1	c.1350C>A c.1332C>A c.12940C>A (p.Arg4314=) c.12925C>A (p.Arg4309=) c.12922C>A (p.Arg4308=) c.12907C>A (p.Arg4303=) c.12937C>A (p.Arg4313=)
19	g.38565274C=	CA2335084777	RYR1	c.1350C= c.1332C= c.12940C= (p.Arg4314=) c.12925C= (p.Arg4309=) c.12922C= (p.Arg4308=) c.12907C= (p.Arg4303=) c.12937C= (p.Arg4313=)
19	g.38565274C>G	CA405672672	RYR1	c.1350C>G c.1332C>G c.12940C>G (p.Arg4314Gly) c.12925C>G (p.Arg4309Gly) c.12922C>G (p.Arg4308Gly) c.12907C>G (p.Arg4303Gly) c.12937C>G (p.Arg4313Gly)
19	g.38565274C>T	CA405672674	RYR1	c.1350C>T c.1332C>T c.12940C>T (p.Arg4314Trp) c.12925C>T (p.Arg4309Trp) c.12922C>T (p.Arg4308Trp) c.12907C>T (p.Arg4303Trp) c.12937C>T (p.Arg4313Trp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565275G>A	CA405672676	RYR1	c.1351G>A c.1333G>A c.12941G>A (p.Arg4314Gln) c.12926G>A (p.Arg4309Gln) c.12923G>A (p.Arg4308Gln) c.12908G>A (p.Arg4303Gln) c.12938G>A (p.Arg4313Gln)	gnomAD v4
19	g.38565275G>C	CA405672680	RYR1	c.1351G>C c.1333G>C c.12941G>C (p.Arg4314Pro) c.12926G>C (p.Arg4309Pro) c.12923G>C (p.Arg4308Pro) c.12908G>C (p.Arg4303Pro) c.12938G>C (p.Arg4313Pro)
19	g.38565275G>T	CA405672678	RYR1	c.1351G>T c.1333G>T c.12941G>T (p.Arg4314Leu) c.12926G>T (p.Arg4309Leu) c.12923G>T (p.Arg4308Leu) c.12908G>T (p.Arg4303Leu) c.12938G>T (p.Arg4313Leu)	gnomAD v4
19	g.38565276G>A	CA507355657	RYR1	c.1352G>A c.1334G>A c.12942G>A (p.Arg4314=) c.12927G>A (p.Arg4309=) c.12924G>A (p.Arg4308=) c.12909G>A (p.Arg4303=) c.12939G>A (p.Arg4313=)	gnomAD v4
19	g.38565276G>C	CA507355658	RYR1	c.1352G>C c.1334G>C c.12942G>C (p.Arg4314=) c.12927G>C (p.Arg4309=) c.12924G>C (p.Arg4308=) c.12909G>C (p.Arg4303=) c.12939G>C (p.Arg4313=)
19	g.38565276G>T	CA507355659	RYR1	c.1352G>T c.1334G>T c.12942G>T (p.Arg4314=) c.12927G>T (p.Arg4309=) c.12924G>T (p.Arg4308=) c.12909G>T (p.Arg4303=) c.12939G>T (p.Arg4313=)
19	g.38565277del	CA2584909135	RYR1	c.1353del c.1335del c.12943del (p.Arg4315GlyfsTer26) c.12928del (p.Arg4310GlyfsTer26) c.12925del (p.Arg4309GlyfsTer26) c.12910del (p.Arg4304GlyfsTer26) c.12940del (p.Arg4314GlyfsTer26)	gnomAD v4
19	g.38565277C>A	CA507355660	RYR1	c.1353C>A c.1335C>A c.12943C>A (p.Arg4315=) c.12928C>A (p.Arg4310=) c.12925C>A (p.Arg4309=) c.12910C>A (p.Arg4304=) c.12940C>A (p.Arg4314=)	gnomAD v4
19	g.38565277C=	CA2335084778	RYR1	c.1353C= c.1335C= c.12943C= (p.Arg4315=) c.12928C= (p.Arg4310=) c.12925C= (p.Arg4309=) c.12910C= (p.Arg4304=) c.12940C= (p.Arg4314=)
19	g.38565277C>G	CA405672683	RYR1	c.1353C>G c.1335C>G c.12943C>G (p.Arg4315Gly) c.12928C>G (p.Arg4310Gly) c.12925C>G (p.Arg4309Gly) c.12910C>G (p.Arg4304Gly) c.12940C>G (p.Arg4314Gly)
19	g.38565277C>T	CA405672686	RYR1	c.1353C>T c.1335C>T c.12943C>T (p.Arg4315Trp) c.12928C>T (p.Arg4310Trp) c.12925C>T (p.Arg4309Trp) c.12910C>T (p.Arg4304Trp) c.12940C>T (p.Arg4314Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565278G>A	CA308109374	RYR1	c.1354G>A c.1336G>A c.12944G>A (p.Arg4315Gln) c.12929G>A (p.Arg4310Gln) c.12926G>A (p.Arg4309Gln) c.12911G>A (p.Arg4304Gln) c.12941G>A (p.Arg4314Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565278G>C	CA405672688	RYR1	c.1354G>C c.1336G>C c.12944G>C (p.Arg4315Pro) c.12929G>C (p.Arg4310Pro) c.12926G>C (p.Arg4309Pro) c.12911G>C (p.Arg4304Pro) c.12941G>C (p.Arg4314Pro)	gnomAD v4
19	g.38565278G=	CA2335084779	RYR1	c.1354G= c.1336G= c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12926G= (p.Arg4309=) c.12911G= (p.Arg4304=) c.12941G= (p.Arg4314=)
19	g.38565278G>T	CA405672687	RYR1	c.1354G>T c.1336G>T c.12944G>T (p.Arg4315Leu) c.12929G>T (p.Arg4310Leu) c.12926G>T (p.Arg4309Leu) c.12911G>T (p.Arg4304Leu) c.12941G>T (p.Arg4314Leu)	ClinVar dbSNP gnomAD v4
19	g.38565279G>A	CA507355667	RYR1	c.1355G>A c.1337G>A c.12945G>A (p.Arg4315=) c.12930G>A (p.Arg4310=) c.12927G>A (p.Arg4309=) c.12912G>A (p.Arg4304=) c.12942G>A (p.Arg4314=)	gnomAD v4
19	g.38565279G>C	CA507355669	RYR1	c.1355G>C c.1337G>C c.12945G>C (p.Arg4315=) c.12930G>C (p.Arg4310=) c.12927G>C (p.Arg4309=) c.12912G>C (p.Arg4304=) c.12942G>C (p.Arg4314=)
19	g.38565279G>T	CA507355672	RYR1	c.1355G>T c.1337G>T c.12945G>T (p.Arg4315=) c.12930G>T (p.Arg4310=) c.12927G>T (p.Arg4309=) c.12912G>T (p.Arg4304=) c.12942G>T (p.Arg4314=)	gnomAD v4
19	g.38565280C>A	CA405672689	RYR1	c.1356C>A c.1338C>A c.12946C>A (p.Arg4316Ser) c.12931C>A (p.Arg4311Ser) c.12928C>A (p.Arg4310Ser) c.12913C>A (p.Arg4305Ser) c.12943C>A (p.Arg4315Ser)	gnomAD v4
19	g.38565280C>G	CA405672690	RYR1	c.1356C>G c.1338C>G c.12946C>G (p.Arg4316Gly) c.12931C>G (p.Arg4311Gly) c.12928C>G (p.Arg4310Gly) c.12913C>G (p.Arg4305Gly) c.12943C>G (p.Arg4315Gly)
19	g.38565280C>T	CA405672691	RYR1	c.1356C>T c.1338C>T c.12946C>T (p.Arg4316Cys) c.12931C>T (p.Arg4311Cys) c.12928C>T (p.Arg4310Cys) c.12913C>T (p.Arg4305Cys) c.12943C>T (p.Arg4315Cys)	gnomAD v4
19	g.38565281G>A	CA308109382	RYR1	c.1357G>A c.1339G>A c.12947G>A (p.Arg4316His) c.12932G>A (p.Arg4311His) c.12929G>A (p.Arg4310His) c.12914G>A (p.Arg4305His) c.12944G>A (p.Arg4315His)	dbSNP gnomAD v3 gnomAD v4
19	g.38565281G>C	CA405672692	RYR1	c.1357G>C c.1339G>C c.12947G>C (p.Arg4316Pro) c.12932G>C (p.Arg4311Pro) c.12929G>C (p.Arg4310Pro) c.12914G>C (p.Arg4305Pro) c.12944G>C (p.Arg4315Pro)
19	g.38565281G=	CA2335084780	RYR1	c.1357G= c.1339G= c.12947G= (p.Arg4316=) c.12932G= (p.Arg4311=) c.12929G= (p.Arg4310=) c.12914G= (p.Arg4305=) c.12944G= (p.Arg4315=)
19	g.38565281G>T	CA405672694	RYR1	c.1357G>T c.1339G>T c.12947G>T (p.Arg4316Leu) c.12932G>T (p.Arg4311Leu) c.12929G>T (p.Arg4310Leu) c.12914G>T (p.Arg4305Leu) c.12944G>T (p.Arg4315Leu)	gnomAD v4
19	g.38565281_38565283del	CA2814346163	RYR1	c.1357_1359del c.1339_1341del c.12947_12949del (p.Arg4316_Val4317delinsLeu) c.12932_12934del (p.Arg4311_Val4312delinsLeu) c.12929_12931del (p.Arg4310_Val4311delinsLeu) c.12914_12916del (p.Arg4305_Val4306delinsLeu) c.12944_12946del (p.Arg4315_Val4316delinsLeu)
19	g.38565282C>A	CA507355678	RYR1	c.1358C>A c.1340C>A c.12948C>A (p.Arg4316=) c.12933C>A (p.Arg4311=) c.12930C>A (p.Arg4310=) c.12915C>A (p.Arg4305=) c.12945C>A (p.Arg4315=)	gnomAD v4
19	g.38565282C=	CA2335084781	RYR1	c.1358C= c.1340C= c.12948C= (p.Arg4316=) c.12933C= (p.Arg4311=) c.12930C= (p.Arg4310=) c.12915C= (p.Arg4305=) c.12945C= (p.Arg4315=)
19	g.38565282C>G	CA507355680	RYR1	c.1358C>G c.1340C>G c.12948C>G (p.Arg4316=) c.12933C>G (p.Arg4311=) c.12930C>G (p.Arg4310=) c.12915C>G (p.Arg4305=) c.12945C>G (p.Arg4315=)
19	g.38565282C>T	CA507355679	RYR1	c.1358C>T c.1340C>T c.12948C>T (p.Arg4316=) c.12933C>T (p.Arg4311=) c.12930C>T (p.Arg4310=) c.12915C>T (p.Arg4305=) c.12945C>T (p.Arg4315=)	dbSNP gnomAD v4
19	g.38565282_38565283delinsGT	CA2580097187	RYR1	c.1358_1359delinsGT c.1340_1341delinsGT c.12948_12949delinsGT (p.Val4317Leu) c.12933_12934delinsGT (p.Val4312Leu) c.12930_12931delinsGT (p.Val4311Leu) c.12915_12916delinsGT (p.Val4306Leu) c.12945_12946delinsGT (p.Val4316Leu)	ClinVar
19	g.38565283G>A	CA308109394	RYR1	c.1359G>A c.1341G>A c.12949G>A (p.Val4317Met) c.12934G>A (p.Val4312Met) c.12931G>A (p.Val4311Met) c.12916G>A (p.Val4306Met) c.12946G>A (p.Val4316Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38565283G>C	CA405672696	RYR1	c.1359G>C c.1341G>C c.12949G>C (p.Val4317Leu) c.12934G>C (p.Val4312Leu) c.12931G>C (p.Val4311Leu) c.12916G>C (p.Val4306Leu) c.12946G>C (p.Val4316Leu)	gnomAD v4
19	g.38565283G=	CA2335084783	RYR1	c.1359G= c.1341G= c.12949G= (p.Val4317=) c.12934G= (p.Val4312=) c.12931G= (p.Val4311=) c.12916G= (p.Val4306=) c.12946G= (p.Val4316=)
19	g.38565283G>T	CA405672697	RYR1	c.1359G>T c.1341G>T c.12949G>T (p.Val4317Leu) c.12934G>T (p.Val4312Leu) c.12931G>T (p.Val4311Leu) c.12916G>T (p.Val4306Leu) c.12946G>T (p.Val4316Leu)
19	g.38565283_38565292delinsGTGCGGCGGC	CA2335084782	RYR1	c.1359_1368delinsGTGCGGCGGC c.1341_1350delinsGTGCGGCGGC c.12949_12958delinsGTGCGGCGGC (p.Val4317=) c.12934_12943delinsGTGCGGCGGC (p.Val4312=) c.12931_12940delinsGTGCGGCGGC (p.Val4311=) c.12916_12925delinsGTGCGGCGGC (p.Val4306=) c.12946_12955delinsGTGCGGCGGC (p.Val4316=)
19	g.38565284T>A	CA405672698	RYR1	c.1360T>A c.1342T>A c.12950T>A (p.Val4317Glu) c.12935T>A (p.Val4312Glu) c.12932T>A (p.Val4311Glu) c.12917T>A (p.Val4306Glu) c.12947T>A (p.Val4316Glu)
19	g.38565284T>C	CA405672699	RYR1	c.1360T>C c.1342T>C c.12950T>C (p.Val4317Ala) c.12935T>C (p.Val4312Ala) c.12932T>C (p.Val4311Ala) c.12917T>C (p.Val4306Ala) c.12947T>C (p.Val4316Ala)	gnomAD v4
19	g.38565284T>G	CA405672700	RYR1	c.1360T>G c.1342T>G c.12950T>G (p.Val4317Gly) c.12935T>G (p.Val4312Gly) c.12932T>G (p.Val4311Gly) c.12917T>G (p.Val4306Gly) c.12947T>G (p.Val4316Gly)
19	g.38565294_38565302dup	CA024023	RYR1	c.1370_1378dup c.1352_1360dup c.12960_12968dup (p.Leu4323_Thr4324insArgArgLeu) c.12945_12953dup (p.Leu4318_Thr4319insArgArgLeu) c.12942_12950dup (p.Leu4317_Thr4318insArgArgLeu) c.12927_12935dup (p.Leu4312_Thr4313insArgArgLeu) c.12957_12965dup (p.Leu4322_Thr4323insArgArgLeu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565294_38565302del	CA308109404	RYR1	c.1370_1378del c.1352_1360del c.12960_12968del (p.Arg4321_Leu4323del) c.12945_12953del (p.Arg4316_Leu4318del) c.12942_12950del (p.Arg4315_Leu4317del) c.12927_12935del (p.Arg4310_Leu4312del) c.12957_12965del (p.Arg4320_Leu4322del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565285G>A	CA308109406	RYR1	c.1361G>A c.1343G>A c.12951G>A (p.Val4317=) c.12936G>A (p.Val4312=) c.12933G>A (p.Val4311=) c.12918G>A (p.Val4306=) c.12948G>A (p.Val4316=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565285G>C	CA507355684	RYR1	c.1361G>C c.1343G>C c.12951G>C (p.Val4317=) c.12936G>C (p.Val4312=) c.12933G>C (p.Val4311=) c.12918G>C (p.Val4306=) c.12948G>C (p.Val4316=)
19	g.38565285G=	CA2335084784	RYR1	c.1361G= c.1343G= c.12951G= (p.Val4317=) c.12936G= (p.Val4312=) c.12933G= (p.Val4311=) c.12918G= (p.Val4306=) c.12948G= (p.Val4316=)
19	g.38565285G>T	CA507355685	RYR1	c.1361G>T c.1343G>T c.12951G>T (p.Val4317=) c.12936G>T (p.Val4312=) c.12933G>T (p.Val4311=) c.12918G>T (p.Val4306=) c.12948G>T (p.Val4316=)	gnomAD v4
19	g.38565290_38565301dup	CA2576772101	RYR1	c.1366_1377dup c.1348_1359dup c.12956_12967dup (p.Arg4322_Leu4323insArgLeuArgArg) c.12941_12952dup (p.Arg4317_Leu4318insArgLeuArgArg) c.12938_12949dup (p.Arg4316_Leu4317insArgLeuArgArg) c.12923_12934dup (p.Arg4311_Leu4312insArgLeuArgArg) c.12953_12964dup (p.Arg4321_Leu4322insArgLeuArgArg)	gnomAD v4
19	g.38565286C>A	CA507355686	RYR1	c.1362C>A c.1344C>A c.12952C>A (p.Arg4318=) c.12937C>A (p.Arg4313=) c.12934C>A (p.Arg4312=) c.12919C>A (p.Arg4307=) c.12949C>A (p.Arg4317=)	gnomAD v4
19	g.38565286C=	CA2335084785	RYR1	c.1362C= c.1344C= c.12952C= (p.Arg4318=) c.12937C= (p.Arg4313=) c.12934C= (p.Arg4312=) c.12919C= (p.Arg4307=) c.12949C= (p.Arg4317=)
19	g.38565286C>G	CA405672704	RYR1	c.1362C>G c.1344C>G c.12952C>G (p.Arg4318Gly) c.12937C>G (p.Arg4313Gly) c.12934C>G (p.Arg4312Gly) c.12919C>G (p.Arg4307Gly) c.12949C>G (p.Arg4317Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565286C>T	CA405672702	RYR1	c.1362C>T c.1344C>T c.12952C>T (p.Arg4318Trp) c.12937C>T (p.Arg4313Trp) c.12934C>T (p.Arg4312Trp) c.12919C>T (p.Arg4307Trp) c.12949C>T (p.Arg4317Trp)	dbSNP gnomAD v4
19	g.38565286_38565287insAGT	CA995731594	RYR1	c.1362_1363insAGT c.1344_1345insAGT c.12952_12953insAGT (p.Arg4318delinsGlnTrp) c.12937_12938insAGT (p.Arg4313delinsGlnTrp) c.12934_12935insAGT (p.Arg4312delinsGlnTrp) c.12919_12920insAGT (p.Arg4307delinsGlnTrp) c.12949_12950insAGT (p.Arg4317delinsGlnTrp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565287G>A	CA405672708	RYR1	c.1363G>A c.1345G>A c.12953G>A (p.Arg4318Gln) c.12938G>A (p.Arg4313Gln) c.12935G>A (p.Arg4312Gln) c.12920G>A (p.Arg4307Gln) c.12950G>A (p.Arg4317Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565287G>C	CA405672711	RYR1	c.1363G>C c.1345G>C c.12953G>C (p.Arg4318Pro) c.12938G>C (p.Arg4313Pro) c.12935G>C (p.Arg4312Pro) c.12920G>C (p.Arg4307Pro) c.12950G>C (p.Arg4317Pro)
19	g.38565287G=	CA2335084786	RYR1	c.1363G= c.1345G= c.12953G= (p.Arg4318=) c.12938G= (p.Arg4313=) c.12935G= (p.Arg4312=) c.12920G= (p.Arg4307=) c.12950G= (p.Arg4317=)
19	g.38565287G>T	CA405672712	RYR1	c.1363G>T c.1345G>T c.12953G>T (p.Arg4318Leu) c.12938G>T (p.Arg4313Leu) c.12935G>T (p.Arg4312Leu) c.12920G>T (p.Arg4307Leu) c.12950G>T (p.Arg4317Leu)
19	g.38565293_38565320del	CA2584909136	RYR1	c.1369_1396del c.1351_1378del c.12959_12986del (p.Leu4320ProfsTer12) c.12944_12971del (p.Leu4315ProfsTer12) c.12941_12968del (p.Leu4314ProfsTer12) c.12926_12953del (p.Leu4309ProfsTer12) c.12956_12983del (p.Leu4319ProfsTer12)	gnomAD v4
19	g.38565288G>A	CA10642763	RYR1	c.1364G>A c.1346G>A c.12954G>A (p.Arg4318=) c.12939G>A (p.Arg4313=) c.12936G>A (p.Arg4312=) c.12921G>A (p.Arg4307=) c.12951G>A (p.Arg4317=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565288G>C	CA507355689	RYR1	c.1364G>C c.1346G>C c.12954G>C (p.Arg4318=) c.12939G>C (p.Arg4313=) c.12936G>C (p.Arg4312=) c.12921G>C (p.Arg4307=) c.12951G>C (p.Arg4317=)
19	g.38565288G=	CA2335084787	RYR1	c.1364G= c.1346G= c.12954G= (p.Arg4318=) c.12939G= (p.Arg4313=) c.12936G= (p.Arg4312=) c.12921G= (p.Arg4307=) c.12951G= (p.Arg4317=)
19	g.38565288G>T	CA507355692	RYR1	c.1364G>T c.1346G>T c.12954G>T (p.Arg4318=) c.12939G>T (p.Arg4313=) c.12936G>T (p.Arg4312=) c.12921G>T (p.Arg4307=) c.12951G>T (p.Arg4317=)	dbSNP gnomAD v3 gnomAD v4
19	g.38565288_38565303dup	CA2580097188	RYR1	c.1364_1379dup c.1346_1361dup c.12954_12969dup (p.Thr4324AlafsTer?) c.12939_12954dup (p.Thr4319AlafsTer?) c.12936_12951dup (p.Thr4318AlafsTer?) c.12921_12936dup (p.Thr4313AlafsTer?) c.12951_12966dup (p.Thr4323AlafsTer?)	ClinVar
19	g.38565289C>A	CA507355695	RYR1	c.1365C>A c.1347C>A c.12955C>A (p.Arg4319=) c.12940C>A (p.Arg4314=) c.12937C>A (p.Arg4313=) c.12922C>A (p.Arg4308=) c.12952C>A (p.Arg4318=)	gnomAD v4
19	g.38565289C=	CA2335084788	RYR1	c.1365C= c.1347C= c.12955C= (p.Arg4319=) c.12940C= (p.Arg4314=) c.12937C= (p.Arg4313=) c.12922C= (p.Arg4308=) c.12952C= (p.Arg4318=)
19	g.38565289C>G	CA405672715	RYR1	c.1365C>G c.1347C>G c.12955C>G (p.Arg4319Gly) c.12940C>G (p.Arg4314Gly) c.12937C>G (p.Arg4313Gly) c.12922C>G (p.Arg4308Gly) c.12952C>G (p.Arg4318Gly)
19	g.38565289C>T	CA405672717	RYR1	c.1365C>T c.1347C>T c.12955C>T (p.Arg4319Trp) c.12940C>T (p.Arg4314Trp) c.12937C>T (p.Arg4313Trp) c.12922C>T (p.Arg4308Trp) c.12952C>T (p.Arg4318Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565290G>A	CA024020	RYR1	c.1366G>A c.1348G>A c.12956G>A (p.Arg4319Gln) c.12941G>A (p.Arg4314Gln) c.12938G>A (p.Arg4313Gln) c.12923G>A (p.Arg4308Gln) c.12953G>A (p.Arg4318Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565290G>C	CA405672720	RYR1	c.1366G>C c.1348G>C c.12956G>C (p.Arg4319Pro) c.12941G>C (p.Arg4314Pro) c.12938G>C (p.Arg4313Pro) c.12923G>C (p.Arg4308Pro) c.12953G>C (p.Arg4318Pro)	ClinVar dbSNP
19	g.38565290G=	CA2335084789	RYR1	c.1366G= c.1348G= c.12956G= (p.Arg4319=) c.12941G= (p.Arg4314=) c.12938G= (p.Arg4313=) c.12923G= (p.Arg4308=) c.12953G= (p.Arg4318=)
19	g.38565290G>T	CA405672721	RYR1	c.1366G>T c.1348G>T c.12956G>T (p.Arg4319Leu) c.12941G>T (p.Arg4314Leu) c.12938G>T (p.Arg4313Leu) c.12923G>T (p.Arg4308Leu) c.12953G>T (p.Arg4318Leu)
19	g.38565291G>A	CA507355696	RYR1	c.1367G>A c.1349G>A c.12957G>A (p.Arg4319=) c.12942G>A (p.Arg4314=) c.12939G>A (p.Arg4313=) c.12924G>A (p.Arg4308=) c.12954G>A (p.Arg4318=)	ClinVar dbSNP gnomAD v4
19	g.38565291G>C	CA507355697	RYR1	c.1367G>C c.1349G>C c.12957G>C (p.Arg4319=) c.12942G>C (p.Arg4314=) c.12939G>C (p.Arg4313=) c.12924G>C (p.Arg4308=) c.12954G>C (p.Arg4318=)
19	g.38565291G=	CA2335084790	RYR1	c.1367G= c.1349G= c.12957G= (p.Arg4319=) c.12942G= (p.Arg4314=) c.12939G= (p.Arg4313=) c.12924G= (p.Arg4308=) c.12954G= (p.Arg4318=)
19	g.38565291G>T	CA507355698	RYR1	c.1367G>T c.1349G>T c.12957G>T (p.Arg4319=) c.12942G>T (p.Arg4314=) c.12939G>T (p.Arg4313=) c.12924G>T (p.Arg4308=) c.12954G>T (p.Arg4318=)
19	g.38565292C>A	CA405672724	RYR1	c.1368C>A c.1350C>A c.12958C>A (p.Leu4320Met) c.12943C>A (p.Leu4315Met) c.12940C>A (p.Leu4314Met) c.12925C>A (p.Leu4309Met) c.12955C>A (p.Leu4319Met)
19	g.38565292C=	CA2335084791	RYR1	c.1368C= c.1350C= c.12958C= (p.Leu4320=) c.12943C= (p.Leu4315=) c.12940C= (p.Leu4314=) c.12925C= (p.Leu4309=) c.12955C= (p.Leu4319=)
19	g.38565292C>G	CA405672726	RYR1	c.1368C>G c.1350C>G c.12958C>G (p.Leu4320Val) c.12943C>G (p.Leu4315Val) c.12940C>G (p.Leu4314Val) c.12925C>G (p.Leu4309Val) c.12955C>G (p.Leu4319Val)	dbSNP gnomAD v4
19	g.38565292C>T	CA507355699	RYR1	c.1368C>T c.1350C>T c.12958C>T (p.Leu4320=) c.12943C>T (p.Leu4315=) c.12940C>T (p.Leu4314=) c.12925C>T (p.Leu4309=) c.12955C>T (p.Leu4319=)	gnomAD v4
19	g.38565292_38565293insGCG	CA2584909137	RYR1	c.1368_1369insGCG c.1350_1351insGCG c.12958_12959insGCG (p.Leu4320delinsArgVal) c.12943_12944insGCG (p.Leu4315delinsArgVal) c.12940_12941insGCG (p.Leu4314delinsArgVal) c.12925_12926insGCG (p.Leu4309delinsArgVal) c.12955_12956insGCG (p.Leu4319delinsArgVal)	gnomAD v4
19	g.38565293T>A	CA405672731	RYR1	c.1369T>A c.1351T>A c.12959T>A (p.Leu4320Gln) c.12944T>A (p.Leu4315Gln) c.12941T>A (p.Leu4314Gln) c.12926T>A (p.Leu4309Gln) c.12956T>A (p.Leu4319Gln)	gnomAD v4
19	g.38565293T>C	CA405672729	RYR1	c.1369T>C c.1351T>C c.12959T>C (p.Leu4320Pro) c.12944T>C (p.Leu4315Pro) c.12941T>C (p.Leu4314Pro) c.12926T>C (p.Leu4309Pro) c.12956T>C (p.Leu4319Pro)	dbSNP gnomAD v4
19	g.38565293T>G	CA405672734	RYR1	c.1369T>G c.1351T>G c.12959T>G (p.Leu4320Arg) c.12944T>G (p.Leu4315Arg) c.12941T>G (p.Leu4314Arg) c.12926T>G (p.Leu4309Arg) c.12956T>G (p.Leu4319Arg)	dbSNP gnomAD v3 gnomAD v4
19	g.38565293T=	CA2335084792	RYR1	c.1369T= c.1351T= c.12959T= (p.Leu4320=) c.12944T= (p.Leu4315=) c.12941T= (p.Leu4314=) c.12926T= (p.Leu4309=) c.12956T= (p.Leu4319=)
19	g.38565294G>A	CA507355701	RYR1	c.1370G>A c.1352G>A c.12960G>A (p.Leu4320=) c.12945G>A (p.Leu4315=) c.12942G>A (p.Leu4314=) c.12927G>A (p.Leu4309=) c.12957G>A (p.Leu4319=)	gnomAD v4
19	g.38565294G>C	CA507355702	RYR1	c.1370G>C c.1352G>C c.12960G>C (p.Leu4320=) c.12945G>C (p.Leu4315=) c.12942G>C (p.Leu4314=) c.12927G>C (p.Leu4309=) c.12957G>C (p.Leu4319=)
19	g.38565294G>T	CA507355703	RYR1	c.1370G>T c.1352G>T c.12960G>T (p.Leu4320=) c.12945G>T (p.Leu4315=) c.12942G>T (p.Leu4314=) c.12927G>T (p.Leu4309=) c.12957G>T (p.Leu4319=)	gnomAD v4
19	g.38565295C>A	CA507355704	RYR1	c.1371C>A c.1353C>A c.12961C>A (p.Arg4321=) c.12946C>A (p.Arg4316=) c.12943C>A (p.Arg4315=) c.12928C>A (p.Arg4310=) c.12958C>A (p.Arg4320=)	gnomAD v4
19	g.38565295C=	CA2335084793	RYR1	c.1371C= c.1353C= c.12961C= (p.Arg4321=) c.12946C= (p.Arg4316=) c.12943C= (p.Arg4315=) c.12928C= (p.Arg4310=) c.12958C= (p.Arg4320=)
19	g.38565295C>G	CA405672736	RYR1	c.1371C>G c.1353C>G c.12961C>G (p.Arg4321Gly) c.12946C>G (p.Arg4316Gly) c.12943C>G (p.Arg4315Gly) c.12928C>G (p.Arg4310Gly) c.12958C>G (p.Arg4320Gly)
19	g.38565295C>T	CA405672739	RYR1	c.1371C>T c.1353C>T c.12961C>T (p.Arg4321Trp) c.12946C>T (p.Arg4316Trp) c.12943C>T (p.Arg4315Trp) c.12928C>T (p.Arg4310Trp) c.12958C>T (p.Arg4320Trp)	ClinVar gnomAD v4
19	g.38565295_38565296insAGT	CA995731603	RYR1	c.1371_1372insAGT c.1353_1354insAGT c.12961_12962insAGT (p.Arg4321delinsGlnTrp) c.12946_12947insAGT (p.Arg4316delinsGlnTrp) c.12943_12944insAGT (p.Arg4315delinsGlnTrp) c.12928_12929insAGT (p.Arg4310delinsGlnTrp) c.12958_12959insAGT (p.Arg4320delinsGlnTrp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565296G>A	CA405672741	RYR1	c.1372G>A c.1354G>A c.12962G>A (p.Arg4321Gln) c.12947G>A (p.Arg4316Gln) c.12944G>A (p.Arg4315Gln) c.12929G>A (p.Arg4310Gln) c.12959G>A (p.Arg4320Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565296G>C	CA405672743	RYR1	c.1372G>C c.1354G>C c.12962G>C (p.Arg4321Pro) c.12947G>C (p.Arg4316Pro) c.12944G>C (p.Arg4315Pro) c.12929G>C (p.Arg4310Pro) c.12959G>C (p.Arg4320Pro)
19	g.38565296G=	CA2335084794	RYR1	c.1372G= c.1354G= c.12962G= (p.Arg4321=) c.12947G= (p.Arg4316=) c.12944G= (p.Arg4315=) c.12929G= (p.Arg4310=) c.12959G= (p.Arg4320=)
19	g.38565296G>T	CA405672745	RYR1	c.1372G>T c.1354G>T c.12962G>T (p.Arg4321Leu) c.12947G>T (p.Arg4316Leu) c.12944G>T (p.Arg4315Leu) c.12929G>T (p.Arg4310Leu) c.12959G>T (p.Arg4320Leu)	dbSNP
19	g.38565297G>A	CA507355707	RYR1	c.1373G>A c.1355G>A c.12963G>A (p.Arg4321=) c.12948G>A (p.Arg4316=) c.12945G>A (p.Arg4315=) c.12930G>A (p.Arg4310=) c.12960G>A (p.Arg4320=)	gnomAD v4
19	g.38565297G>C	CA507355708	RYR1	c.1373G>C c.1355G>C c.12963G>C (p.Arg4321=) c.12948G>C (p.Arg4316=) c.12945G>C (p.Arg4315=) c.12930G>C (p.Arg4310=) c.12960G>C (p.Arg4320=)
19	g.38565297G>T	CA507355710	RYR1	c.1373G>T c.1355G>T c.12963G>T (p.Arg4321=) c.12948G>T (p.Arg4316=) c.12945G>T (p.Arg4315=) c.12930G>T (p.Arg4310=) c.12960G>T (p.Arg4320=)
19	g.38565298C>A	CA507355711	RYR1	c.1374C>A c.1356C>A c.12964C>A (p.Arg4322=) c.12949C>A (p.Arg4317=) c.12946C>A (p.Arg4316=) c.12931C>A (p.Arg4311=) c.12961C>A (p.Arg4321=)	gnomAD v4
19	g.38565298C=	CA2335084795	RYR1	c.1374C= c.1356C= c.12964C= (p.Arg4322=) c.12949C= (p.Arg4317=) c.12946C= (p.Arg4316=) c.12931C= (p.Arg4311=) c.12961C= (p.Arg4321=)
19	g.38565298C>G	CA405672748	RYR1	c.1374C>G c.1356C>G c.12964C>G (p.Arg4322Gly) c.12949C>G (p.Arg4317Gly) c.12946C>G (p.Arg4316Gly) c.12931C>G (p.Arg4311Gly) c.12961C>G (p.Arg4321Gly)
19	g.38565298C>T	CA405672750	RYR1	c.1374C>T c.1356C>T c.12964C>T (p.Arg4322Trp) c.12949C>T (p.Arg4317Trp) c.12946C>T (p.Arg4316Trp) c.12931C>T (p.Arg4311Trp) c.12961C>T (p.Arg4321Trp)	dbSNP gnomAD v3 gnomAD v4
19	g.38565299G>A	CA405672753	RYR1	c.1375G>A c.1357G>A c.12965G>A (p.Arg4322Gln) c.12950G>A (p.Arg4317Gln) c.12947G>A (p.Arg4316Gln) c.12932G>A (p.Arg4311Gln) c.12962G>A (p.Arg4321Gln)
19	g.38565299G>C	CA405672754	RYR1	c.1375G>C c.1357G>C c.12965G>C (p.Arg4322Pro) c.12950G>C (p.Arg4317Pro) c.12947G>C (p.Arg4316Pro) c.12932G>C (p.Arg4311Pro) c.12962G>C (p.Arg4321Pro)
19	g.38565299G>T	CA405672756	RYR1	c.1375G>T c.1357G>T c.12965G>T (p.Arg4322Leu) c.12950G>T (p.Arg4317Leu) c.12947G>T (p.Arg4316Leu) c.12932G>T (p.Arg4311Leu) c.12962G>T (p.Arg4321Leu)	gnomAD v4
19	g.38565300G>A	CA308109416	RYR1	c.1376G>A c.1358G>A c.12966G>A (p.Arg4322=) c.12951G>A (p.Arg4317=) c.12948G>A (p.Arg4316=) c.12933G>A (p.Arg4311=) c.12963G>A (p.Arg4321=)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565300G>C	CA507355715	RYR1	c.1376G>C c.1358G>C c.12966G>C (p.Arg4322=) c.12951G>C (p.Arg4317=) c.12948G>C (p.Arg4316=) c.12933G>C (p.Arg4311=) c.12963G>C (p.Arg4321=)
19	g.38565300G=	CA2335084796	RYR1	c.1376G= c.1358G= c.12966G= (p.Arg4322=) c.12951G= (p.Arg4317=) c.12948G= (p.Arg4316=) c.12933G= (p.Arg4311=) c.12963G= (p.Arg4321=)
19	g.38565300G>T	CA507355716	RYR1	c.1376G>T c.1358G>T c.12966G>T (p.Arg4322=) c.12951G>T (p.Arg4317=) c.12948G>T (p.Arg4316=) c.12933G>T (p.Arg4311=) c.12963G>T (p.Arg4321=)
19	g.38565300_38565302delinsGCT	CA2335084797	RYR1	c.1376_1378delinsGCT c.1358_1360delinsGCT c.12966_12968delinsGCT (p.Arg4322=) c.12951_12953delinsGCT (p.Arg4317=) c.12948_12950delinsGCT (p.Arg4316=) c.12933_12935delinsGCT (p.Arg4311=) c.12963_12965delinsGCT (p.Arg4321=)
19	g.38565301C>A	CA405672763	RYR1	c.1377C>A c.1359C>A c.12967C>A (p.Leu4323Ile) c.12952C>A (p.Leu4318Ile) c.12949C>A (p.Leu4317Ile) c.12934C>A (p.Leu4312Ile) c.12964C>A (p.Leu4322Ile)
19	g.38565301C>G	CA405672761	RYR1	c.1377C>G c.1359C>G c.12967C>G (p.Leu4323Val) c.12952C>G (p.Leu4318Val) c.12949C>G (p.Leu4317Val) c.12934C>G (p.Leu4312Val) c.12964C>G (p.Leu4322Val)	dbSNP gnomAD v4
19	g.38565301C>T	CA405672760	RYR1	c.1377C>T c.1359C>T c.12967C>T (p.Leu4323Phe) c.12952C>T (p.Leu4318Phe) c.12949C>T (p.Leu4317Phe) c.12934C>T (p.Leu4312Phe) c.12964C>T (p.Leu4322Phe)	gnomAD v4
19	g.38565301_38565302del	CA995731612	RYR1	c.1377_1378del c.1359_1360del c.12967_12968del (p.Leu4323TyrfsTer?) c.12952_12953del (p.Leu4318TyrfsTer?) c.12949_12950del (p.Leu4317TyrfsTer?) c.12934_12935del (p.Leu4312TyrfsTer?) c.12964_12965del (p.Leu4322TyrfsTer?)	dbSNP gnomAD v3 gnomAD v4
19	g.38565302T>A	CA405672765	RYR1	c.1378T>A c.1360T>A c.12968T>A (p.Leu4323His) c.12953T>A (p.Leu4318His) c.12950T>A (p.Leu4317His) c.12935T>A (p.Leu4312His) c.12965T>A (p.Leu4322His)
19	g.38565302T>C	CA405672768	RYR1	c.1378T>C c.1360T>C c.12968T>C (p.Leu4323Pro) c.12953T>C (p.Leu4318Pro) c.12950T>C (p.Leu4317Pro) c.12935T>C (p.Leu4312Pro) c.12965T>C (p.Leu4322Pro)	gnomAD v4
19	g.38565302T>G	CA405672770	RYR1	c.1378T>G c.1360T>G c.12968T>G (p.Leu4323Arg) c.12953T>G (p.Leu4318Arg) c.12950T>G (p.Leu4317Arg) c.12935T>G (p.Leu4312Arg) c.12965T>G (p.Leu4322Arg)
19	g.38565303T>A	CA507355722	RYR1	c.1379T>A c.1361T>A c.12969T>A (p.Leu4323=) c.12954T>A (p.Leu4318=) c.12951T>A (p.Leu4317=) c.12936T>A (p.Leu4312=) c.12966T>A (p.Leu4322=)
19	g.38565303T>C	CA507355720	RYR1	c.1379T>C c.1361T>C c.12969T>C (p.Leu4323=) c.12954T>C (p.Leu4318=) c.12951T>C (p.Leu4317=) c.12936T>C (p.Leu4312=) c.12966T>C (p.Leu4322=)	ClinVar dbSNP gnomAD v4
19	g.38565303T>G	CA507355721	RYR1	c.1379T>G c.1361T>G c.12969T>G (p.Leu4323=) c.12954T>G (p.Leu4318=) c.12951T>G (p.Leu4317=) c.12936T>G (p.Leu4312=) c.12966T>G (p.Leu4322=)
19	g.38565304A=	CA2335084798	RYR1	c.1380A= c.1362A= c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12952A= (p.Thr4318=) c.12937A= (p.Thr4313=) c.12967A= (p.Thr4323=)
19	g.38565304A>C	CA405672772	RYR1	c.1380A>C c.1362A>C c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12952A>C (p.Thr4318Pro) c.12937A>C (p.Thr4313Pro) c.12967A>C (p.Thr4323Pro)
19	g.38565304A>G	CA405672775	RYR1	c.1380A>G c.1362A>G c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12952A>G (p.Thr4318Ala) c.12937A>G (p.Thr4313Ala) c.12967A>G (p.Thr4323Ala)	dbSNP gnomAD v3 gnomAD v4
19	g.38565304A>T	CA405672778	RYR1	c.1380A>T c.1362A>T c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12952A>T (p.Thr4318Ser) c.12937A>T (p.Thr4313Ser) c.12967A>T (p.Thr4323Ser)
19	g.38565305C>A	CA405672780	RYR1	c.1381C>A c.1363C>A c.12971C>A (p.Thr4324Lys) c.12956C>A (p.Thr4319Lys) c.12953C>A (p.Thr4318Lys) c.12938C>A (p.Thr4313Lys) c.12968C>A (p.Thr4323Lys)
19	g.38565305C=	CA2335084799	RYR1	c.1381C= c.1363C= c.12971C= (p.Thr4324=) c.12956C= (p.Thr4319=) c.12953C= (p.Thr4318=) c.12938C= (p.Thr4313=) c.12968C= (p.Thr4323=)
19	g.38565305C>G	CA405672781	RYR1	c.1381C>G c.1363C>G c.12971C>G (p.Thr4324Arg) c.12956C>G (p.Thr4319Arg) c.12953C>G (p.Thr4318Arg) c.12938C>G (p.Thr4313Arg) c.12968C>G (p.Thr4323Arg)	ClinVar gnomAD v4
19	g.38565305C>T	CA405672783	RYR1	c.1381C>T c.1363C>T c.12971C>T (p.Thr4324Met) c.12956C>T (p.Thr4319Met) c.12953C>T (p.Thr4318Met) c.12938C>T (p.Thr4313Met) c.12968C>T (p.Thr4323Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38565310_38565321del	CA2584909138	RYR1	c.1386_1397del c.1368_1379del c.12976_12987del (p.Arg4326_Ala4329del) c.12961_12972del (p.Arg4321_Ala4324del) c.12958_12969del (p.Arg4320_Ala4323del) c.12943_12954del (p.Arg4315_Ala4318del) c.12973_12984del (p.Arg4325_Ala4328del)	gnomAD v4
19	g.38565305_38565306insAGT	CA995731621	RYR1	c.1381_1382insAGT c.1363_1364insAGT c.12971_12972insAGT (p.Thr4324_Ala4325insVal) c.12956_12957insAGT (p.Thr4319_Ala4320insVal) c.12953_12954insAGT (p.Thr4318_Ala4319insVal) c.12938_12939insAGT (p.Thr4313_Ala4314insVal) c.12968_12969insAGT (p.Thr4323_Ala4324insVal)	dbSNP gnomAD v3 gnomAD v4
19	g.38565306G>A	CA507355728	RYR1	c.1382G>A c.1364G>A c.12972G>A (p.Thr4324=) c.12957G>A (p.Thr4319=) c.12954G>A (p.Thr4318=) c.12939G>A (p.Thr4313=) c.12969G>A (p.Thr4323=)	dbSNP gnomAD v4
19	g.38565306G>C	CA507355727	RYR1	c.1382G>C c.1364G>C c.12972G>C (p.Thr4324=) c.12957G>C (p.Thr4319=) c.12954G>C (p.Thr4318=) c.12939G>C (p.Thr4313=) c.12969G>C (p.Thr4323=)	ClinVar gnomAD v4
19	g.38565306G>T	CA507355726	RYR1	c.1382G>T c.1364G>T c.12972G>T (p.Thr4324=) c.12957G>T (p.Thr4319=) c.12954G>T (p.Thr4318=) c.12939G>T (p.Thr4313=) c.12969G>T (p.Thr4323=)	gnomAD v4
19	g.38565307G>A	CA405672787	RYR1	c.1383G>A c.1365G>A c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12955G>A (p.Ala4319Thr) c.12940G>A (p.Ala4314Thr) c.12970G>A (p.Ala4324Thr)	gnomAD v4
19	g.38565307G>C	CA405672789	RYR1	c.1383G>C c.1365G>C c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12955G>C (p.Ala4319Pro) c.12940G>C (p.Ala4314Pro) c.12970G>C (p.Ala4324Pro)
19	g.38565307G>T	CA405672791	RYR1	c.1383G>T c.1365G>T c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12955G>T (p.Ala4319Ser) c.12940G>T (p.Ala4314Ser) c.12970G>T (p.Ala4324Ser)	gnomAD v4
19	g.38565308C>A	CA405672797	RYR1	c.1384C>A c.1366C>A c.12974C>A (p.Ala4325Asp) c.12959C>A (p.Ala4320Asp) c.12956C>A (p.Ala4319Asp) c.12941C>A (p.Ala4314Asp) c.12971C>A (p.Ala4324Asp)	gnomAD v4
19	g.38565308C=	CA2335084800	RYR1	c.1384C= c.1366C= c.12974C= (p.Ala4325=) c.12959C= (p.Ala4320=) c.12956C= (p.Ala4319=) c.12941C= (p.Ala4314=) c.12971C= (p.Ala4324=)
19	g.38565308C>G	CA405672796	RYR1	c.1384C>G c.1366C>G c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12956C>G (p.Ala4319Gly) c.12941C>G (p.Ala4314Gly) c.12971C>G (p.Ala4324Gly)
19	g.38565308C>T	CA405672793	RYR1	c.1384C>T c.1366C>T c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12956C>T (p.Ala4319Val) c.12941C>T (p.Ala4314Val) c.12971C>T (p.Ala4324Val)	dbSNP gnomAD v4
19	g.38565308_38565314delinsCCCGCGA	CA2335084801	RYR1	c.1384_1390delinsCCCGCGA c.1366_1372delinsCCCGCGA c.12974_12980delinsCCCGCGA (p.Ala4325=) c.12959_12965delinsCCCGCGA (p.Ala4320=) c.12956_12962delinsCCCGCGA (p.Ala4319=) c.12941_12947delinsCCCGCGA (p.Ala4314=) c.12971_12977delinsCCCGCGA (p.Ala4324=)
19	g.38565309C>A	CA507355729	RYR1	c.1385C>A c.1367C>A c.12975C>A (p.Ala4325=) c.12960C>A (p.Ala4320=) c.12957C>A (p.Ala4319=) c.12942C>A (p.Ala4314=) c.12972C>A (p.Ala4324=)	gnomAD v4
19	g.38565309C=	CA2335084802	RYR1	c.1385C= c.1367C= c.12975C= (p.Ala4325=) c.12960C= (p.Ala4320=) c.12957C= (p.Ala4319=) c.12942C= (p.Ala4314=) c.12972C= (p.Ala4324=)
19	g.38565309C>G	CA507355731	RYR1	c.1385C>G c.1367C>G c.12975C>G (p.Ala4325=) c.12960C>G (p.Ala4320=) c.12957C>G (p.Ala4319=) c.12942C>G (p.Ala4314=) c.12972C>G (p.Ala4324=)
19	g.38565309C>T	CA507355730	RYR1	c.1385C>T c.1367C>T c.12975C>T (p.Ala4325=) c.12960C>T (p.Ala4320=) c.12957C>T (p.Ala4319=) c.12942C>T (p.Ala4314=) c.12972C>T (p.Ala4324=)	dbSNP gnomAD v4
19	g.38565309_38565314del	CA995731623	RYR1	c.1385_1390del c.1367_1372del c.12975_12980del (p.Arg4326_Glu4327del) c.12960_12965del (p.Arg4321_Glu4322del) c.12957_12962del (p.Arg4320_Glu4321del) c.12942_12947del (p.Arg4315_Glu4316del) c.12972_12977del (p.Arg4325_Glu4326del)	dbSNP gnomAD v3 gnomAD v4
19	g.38565310C>A	CA405672800	RYR1	c.1386C>A c.1368C>A c.12976C>A (p.Arg4326Ser) c.12961C>A (p.Arg4321Ser) c.12958C>A (p.Arg4320Ser) c.12943C>A (p.Arg4315Ser) c.12973C>A (p.Arg4325Ser)	gnomAD v4
19	g.38565310C>G	CA405672802	RYR1	c.1386C>G c.1368C>G c.12976C>G (p.Arg4326Gly) c.12961C>G (p.Arg4321Gly) c.12958C>G (p.Arg4320Gly) c.12943C>G (p.Arg4315Gly) c.12973C>G (p.Arg4325Gly)
19	g.38565310C>T	CA405672805	RYR1	c.1386C>T c.1368C>T c.12976C>T (p.Arg4326Cys) c.12961C>T (p.Arg4321Cys) c.12958C>T (p.Arg4320Cys) c.12943C>T (p.Arg4315Cys) c.12973C>T (p.Arg4325Cys)	ClinVar dbSNP gnomAD v4
19	g.38565312_38565313del	CA913189013	RYR1	c.1388_1389del c.1370_1371del c.12978_12979del (p.Glu4327GlyfsTer?) c.12963_12964del (p.Glu4322GlyfsTer?) c.12960_12961del (p.Glu4321GlyfsTer?) c.12945_12946del (p.Glu4316GlyfsTer?) c.12975_12976del (p.Glu4326GlyfsTer?)
19	g.38565311G>A	CA405672807	RYR1	c.1387G>A c.1369G>A c.12977G>A (p.Arg4326His) c.12962G>A (p.Arg4321His) c.12959G>A (p.Arg4320His) c.12944G>A (p.Arg4315His) c.12974G>A (p.Arg4325His)	gnomAD v4
19	g.38565311G>C	CA405672808	RYR1	c.1387G>C c.1369G>C c.12977G>C (p.Arg4326Pro) c.12962G>C (p.Arg4321Pro) c.12959G>C (p.Arg4320Pro) c.12944G>C (p.Arg4315Pro) c.12974G>C (p.Arg4325Pro)
19	g.38565311G>T	CA405672810	RYR1	c.1387G>T c.1369G>T c.12977G>T (p.Arg4326Leu) c.12962G>T (p.Arg4321Leu) c.12959G>T (p.Arg4320Leu) c.12944G>T (p.Arg4315Leu) c.12974G>T (p.Arg4325Leu)	ClinVar dbSNP gnomAD v4
19	g.38565311_38565312delinsGC	CA2335084803	RYR1	c.1387_1388delinsGC c.1369_1370delinsGC c.12977_12978delinsGC (p.Arg4326=) c.12962_12963delinsGC (p.Arg4321=) c.12959_12960delinsGC (p.Arg4320=) c.12944_12945delinsGC (p.Arg4315=) c.12974_12975delinsGC (p.Arg4325=)
19	g.38565312del	CA891863128	RYR1	c.1388del c.1370del c.12978del (p.Glu4327ArgfsTer14) c.12963del (p.Glu4322ArgfsTer14) c.12960del (p.Glu4321ArgfsTer14) c.12945del (p.Glu4316ArgfsTer14) c.12975del (p.Glu4326ArgfsTer14)	ClinVar dbSNP
19	g.38565312C>A	CA507355732	RYR1	c.1388C>A c.1370C>A c.12978C>A (p.Arg4326=) c.12963C>A (p.Arg4321=) c.12960C>A (p.Arg4320=) c.12945C>A (p.Arg4315=) c.12975C>A (p.Arg4325=)
19	g.38565312C=	CA2335084804	RYR1	c.1388C= c.1370C= c.12978C= (p.Arg4326=) c.12963C= (p.Arg4321=) c.12960C= (p.Arg4320=) c.12945C= (p.Arg4315=) c.12975C= (p.Arg4325=)
19	g.38565312C>G	CA507355733	RYR1	c.1388C>G c.1370C>G c.12978C>G (p.Arg4326=) c.12963C>G (p.Arg4321=) c.12960C>G (p.Arg4320=) c.12945C>G (p.Arg4315=) c.12975C>G (p.Arg4325=)
19	g.38565312C>T	CA308109420	RYR1	c.1388C>T c.1370C>T c.12978C>T (p.Arg4326=) c.12963C>T (p.Arg4321=) c.12960C>T (p.Arg4320=) c.12945C>T (p.Arg4315=) c.12975C>T (p.Arg4325=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565313G>A	CA405672817	RYR1	c.1389G>A c.1371G>A c.12979G>A (p.Glu4327Lys) c.12964G>A (p.Glu4322Lys) c.12961G>A (p.Glu4321Lys) c.12946G>A (p.Glu4316Lys) c.12976G>A (p.Glu4326Lys)	dbSNP gnomAD v4
19	g.38565313G>C	CA405672812	RYR1	c.1389G>C c.1371G>C c.12979G>C (p.Glu4327Gln) c.12964G>C (p.Glu4322Gln) c.12961G>C (p.Glu4321Gln) c.12946G>C (p.Glu4316Gln) c.12976G>C (p.Glu4326Gln)
19	g.38565313G=	CA2335084805	RYR1	c.1389G= c.1371G= c.12979G= (p.Glu4327=) c.12964G= (p.Glu4322=) c.12961G= (p.Glu4321=) c.12946G= (p.Glu4316=) c.12976G= (p.Glu4326=)
19	g.38565313G>T	CA405672815	RYR1	c.1389G>T c.1371G>T c.12979G>T (p.Glu4327Ter) c.12964G>T (p.Glu4322Ter) c.12961G>T (p.Glu4321Ter) c.12946G>T (p.Glu4316Ter) c.12976G>T (p.Glu4326Ter)	gnomAD v3 gnomAD v4
19	g.38565314A>C	CA405672819	RYR1	c.1390A>C c.1372A>C c.12980A>C (p.Glu4327Ala) c.12965A>C (p.Glu4322Ala) c.12962A>C (p.Glu4321Ala) c.12947A>C (p.Glu4316Ala) c.12977A>C (p.Glu4326Ala)
19	g.38565314A>G	CA405672821	RYR1	c.1390A>G c.1372A>G c.12980A>G (p.Glu4327Gly) c.12965A>G (p.Glu4322Gly) c.12962A>G (p.Glu4321Gly) c.12947A>G (p.Glu4316Gly) c.12977A>G (p.Glu4326Gly)	gnomAD v4
19	g.38565314A>T	CA405672823	RYR1	c.1390A>T c.1372A>T c.12980A>T (p.Glu4327Val) c.12965A>T (p.Glu4322Val) c.12962A>T (p.Glu4321Val) c.12947A>T (p.Glu4316Val) c.12977A>T (p.Glu4326Val)
19	g.38565315G>A	CA507355735	RYR1	c.1391G>A c.1373G>A c.12981G>A (p.Glu4327=) c.12966G>A (p.Glu4322=) c.12963G>A (p.Glu4321=) c.12948G>A (p.Glu4316=) c.12978G>A (p.Glu4326=)
19	g.38565315G>C	CA405672825	RYR1	c.1391G>C c.1373G>C c.12981G>C (p.Glu4327Asp) c.12966G>C (p.Glu4322Asp) c.12963G>C (p.Glu4321Asp) c.12948G>C (p.Glu4316Asp) c.12978G>C (p.Glu4326Asp)	ClinVar dbSNP gnomAD v4
19	g.38565315G=	CA2335084806	RYR1	c.1391G= c.1373G= c.12981G= (p.Glu4327=) c.12966G= (p.Glu4322=) c.12963G= (p.Glu4321=) c.12948G= (p.Glu4316=) c.12978G= (p.Glu4326=)
19	g.38565315G>T	CA405672828	RYR1	c.1391G>T c.1373G>T c.12981G>T (p.Glu4327Asp) c.12966G>T (p.Glu4322Asp) c.12963G>T (p.Glu4321Asp) c.12948G>T (p.Glu4316Asp) c.12978G>T (p.Glu4326Asp)	gnomAD v4
19	g.38565316G>A	CA405672834	RYR1	c.1392G>A c.1374G>A c.12982G>A (p.Ala4328Thr) c.12967G>A (p.Ala4323Thr) c.12964G>A (p.Ala4322Thr) c.12949G>A (p.Ala4317Thr) c.12979G>A (p.Ala4327Thr)
19	g.38565316G>C	CA405672830	RYR1	c.1392G>C c.1374G>C c.12982G>C (p.Ala4328Pro) c.12967G>C (p.Ala4323Pro) c.12964G>C (p.Ala4322Pro) c.12949G>C (p.Ala4317Pro) c.12979G>C (p.Ala4327Pro)
19	g.38565316G>T	CA405672833	RYR1	c.1392G>T c.1374G>T c.12982G>T (p.Ala4328Ser) c.12967G>T (p.Ala4323Ser) c.12964G>T (p.Ala4322Ser) c.12949G>T (p.Ala4317Ser) c.12979G>T (p.Ala4327Ser)
19	g.38565317C>A	CA405672837	RYR1	c.1393C>A c.1375C>A c.12983C>A (p.Ala4328Glu) c.12968C>A (p.Ala4323Glu) c.12965C>A (p.Ala4322Glu) c.12950C>A (p.Ala4317Glu) c.12980C>A (p.Ala4327Glu)
19	g.38565317C=	CA2335084807	RYR1	c.1393C= c.1375C= c.12983C= (p.Ala4328=) c.12968C= (p.Ala4323=) c.12965C= (p.Ala4322=) c.12950C= (p.Ala4317=) c.12980C= (p.Ala4327=)
19	g.38565317C>G	CA405672840	RYR1	c.1393C>G c.1375C>G c.12983C>G (p.Ala4328Gly) c.12968C>G (p.Ala4323Gly) c.12965C>G (p.Ala4322Gly) c.12950C>G (p.Ala4317Gly) c.12980C>G (p.Ala4327Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565317C>T	CA405672841	RYR1	c.1393C>T c.1375C>T c.12983C>T (p.Ala4328Val) c.12968C>T (p.Ala4323Val) c.12965C>T (p.Ala4322Val) c.12950C>T (p.Ala4317Val) c.12980C>T (p.Ala4327Val)	gnomAD v4
19	g.38565318G>A	CA16607801	RYR1	c.1394G>A c.1376G>A c.12984G>A (p.Ala4328=) c.12969G>A (p.Ala4323=) c.12966G>A (p.Ala4322=) c.12951G>A (p.Ala4317=) c.12981G>A (p.Ala4327=)	ClinVar dbSNP
19	g.38565318G>C	CA507355739	RYR1	c.1394G>C c.1376G>C c.12984G>C (p.Ala4328=) c.12969G>C (p.Ala4323=) c.12966G>C (p.Ala4322=) c.12951G>C (p.Ala4317=) c.12981G>C (p.Ala4327=)
19	g.38565318G=	CA2335084808	RYR1	c.1394G= c.1376G= c.12984G= (p.Ala4328=) c.12969G= (p.Ala4323=) c.12966G= (p.Ala4322=) c.12951G= (p.Ala4317=) c.12981G= (p.Ala4327=)
19	g.38565318G>T	CA507355740	RYR1	c.1394G>T c.1376G>T c.12984G>T (p.Ala4328=) c.12969G>T (p.Ala4323=) c.12966G>T (p.Ala4322=) c.12951G>T (p.Ala4317=) c.12981G>T (p.Ala4327=)
19	g.38565319G>A	CA405672845	RYR1	c.1395G>A c.1377G>A c.12985G>A (p.Ala4329Thr) c.12970G>A (p.Ala4324Thr) c.12967G>A (p.Ala4323Thr) c.12952G>A (p.Ala4318Thr) c.12982G>A (p.Ala4328Thr)	gnomAD v4
19	g.38565319G>C	CA405672846	RYR1	c.1395G>C c.1377G>C c.12985G>C (p.Ala4329Pro) c.12970G>C (p.Ala4324Pro) c.12967G>C (p.Ala4323Pro) c.12952G>C (p.Ala4318Pro) c.12982G>C (p.Ala4328Pro)
19	g.38565319G>T	CA405672849	RYR1	c.1395G>T c.1377G>T c.12985G>T (p.Ala4329Ser) c.12970G>T (p.Ala4324Ser) c.12967G>T (p.Ala4323Ser) c.12952G>T (p.Ala4318Ser) c.12982G>T (p.Ala4328Ser)	gnomAD v4
19	g.38565320C>A	CA024025	RYR1	c.1396C>A c.1378C>A c.12986C>A (p.Ala4329Asp) c.12971C>A (p.Ala4324Asp) c.12968C>A (p.Ala4323Asp) c.12953C>A (p.Ala4318Asp) c.12983C>A (p.Ala4328Asp)	ClinVar dbSNP gnomAD v4
19	g.38565320C=	CA2335084810	RYR1	c.1396C= c.1378C= c.12986C= (p.Ala4329=) c.12971C= (p.Ala4324=) c.12968C= (p.Ala4323=) c.12953C= (p.Ala4318=) c.12983C= (p.Ala4328=)
19	g.38565320C>G	CA405672852	RYR1	c.1396C>G c.1378C>G c.12986C>G (p.Ala4329Gly) c.12971C>G (p.Ala4324Gly) c.12968C>G (p.Ala4323Gly) c.12953C>G (p.Ala4318Gly) c.12983C>G (p.Ala4328Gly)
19	g.38565320C>T	CA405672854	RYR1	c.1396C>T c.1378C>T c.12986C>T (p.Ala4329Val) c.12971C>T (p.Ala4324Val) c.12968C>T (p.Ala4323Val) c.12953C>T (p.Ala4318Val) c.12983C>T (p.Ala4328Val)	gnomAD v4
19	g.38565320_38565322delinsCCA	CA2335084809	RYR1	c.1396_1398delinsCCA c.1378_1380delinsCCA c.12986_12988delinsCCA (p.Ala4329=) c.12971_12973delinsCCA (p.Ala4324=) c.12968_12970delinsCCA (p.Ala4323=) c.12953_12955delinsCCA (p.Ala4318=) c.12983_12985delinsCCA (p.Ala4328=)
19	g.38565321C>A	CA507355744	RYR1	c.1397C>A c.1379C>A c.12987C>A (p.Ala4329=) c.12972C>A (p.Ala4324=) c.12969C>A (p.Ala4323=) c.12954C>A (p.Ala4318=) c.12984C>A (p.Ala4328=)
19	g.38565321C=	CA2335084811	RYR1	c.1397C= c.1379C= c.12987C= (p.Ala4329=) c.12972C= (p.Ala4324=) c.12969C= (p.Ala4323=) c.12954C= (p.Ala4318=) c.12984C= (p.Ala4328=)
19	g.38565321C>G	CA507355745	RYR1	c.1397C>G c.1379C>G c.12987C>G (p.Ala4329=) c.12972C>G (p.Ala4324=) c.12969C>G (p.Ala4323=) c.12954C>G (p.Ala4318=) c.12984C>G (p.Ala4328=)
19	g.38565321C>T	CA507355746	RYR1	c.1397C>T c.1379C>T c.12987C>T (p.Ala4329=) c.12972C>T (p.Ala4324=) c.12969C>T (p.Ala4323=) c.12954C>T (p.Ala4318=) c.12984C>T (p.Ala4328=)	dbSNP
19	g.38565322_38565323del	CA995731632	RYR1	c.1398_1399del c.1380_1381del c.12988_12989del (p.Thr4330ArgfsTer?) c.12973_12974del (p.Thr4325ArgfsTer?) c.12970_12971del (p.Thr4324ArgfsTer?) c.12955_12956del (p.Thr4319ArgfsTer?) c.12985_12986del (p.Thr4329ArgfsTer?)	dbSNP gnomAD v3 gnomAD v4
19	g.38565322A=	CA2335084812	RYR1	c.1398A= c.1380A= c.12988A= (p.Thr4330=) c.12973A= (p.Thr4325=) c.12970A= (p.Thr4324=) c.12955A= (p.Thr4319=) c.12985A= (p.Thr4329=)
19	g.38565322A>C	CA405672859	RYR1	c.1398A>C c.1380A>C c.12988A>C (p.Thr4330Pro) c.12973A>C (p.Thr4325Pro) c.12970A>C (p.Thr4324Pro) c.12955A>C (p.Thr4319Pro) c.12985A>C (p.Thr4329Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
19	g.38565322A>G	CA405672861	RYR1	c.1398A>G c.1380A>G c.12988A>G (p.Thr4330Ala) c.12973A>G (p.Thr4325Ala) c.12970A>G (p.Thr4324Ala) c.12955A>G (p.Thr4319Ala) c.12985A>G (p.Thr4329Ala)	gnomAD v4
19	g.38565322A>T	CA405672863	RYR1	c.1398A>T c.1380A>T c.12988A>T (p.Thr4330Ser) c.12973A>T (p.Thr4325Ser) c.12970A>T (p.Thr4324Ser) c.12955A>T (p.Thr4319Ser) c.12985A>T (p.Thr4329Ser)
19	g.38565323C>A	CA405672872	RYR1	c.1399C>A c.1381C>A c.12989C>A (p.Thr4330Asn) c.12974C>A (p.Thr4325Asn) c.12971C>A (p.Thr4324Asn) c.12956C>A (p.Thr4319Asn) c.12986C>A (p.Thr4329Asn)
19	g.38565323C>G	CA405672877	RYR1	c.1399C>G c.1381C>G c.12989C>G (p.Thr4330Ser) c.12974C>G (p.Thr4325Ser) c.12971C>G (p.Thr4324Ser) c.12956C>G (p.Thr4319Ser) c.12986C>G (p.Thr4329Ser)	gnomAD v3 gnomAD v4
19	g.38565323C>T	CA405672876	RYR1	c.1399C>T c.1381C>T c.12989C>T (p.Thr4330Ile) c.12974C>T (p.Thr4325Ile) c.12971C>T (p.Thr4324Ile) c.12956C>T (p.Thr4319Ile) c.12986C>T (p.Thr4329Ile)	ClinVar
19	g.38565324C>A	CA507355748	RYR1	c.1400C>A c.1382C>A c.12990C>A (p.Thr4330=) c.12975C>A (p.Thr4325=) c.12972C>A (p.Thr4324=) c.12957C>A (p.Thr4319=) c.12987C>A (p.Thr4329=)
19	g.38565324C=	CA2335084813	RYR1	c.1400C= c.1382C= c.12990C= (p.Thr4330=) c.12975C= (p.Thr4325=) c.12972C= (p.Thr4324=) c.12957C= (p.Thr4319=) c.12987C= (p.Thr4329=)
19	g.38565324C>G	CA10607086	RYR1	c.1400C>G c.1382C>G c.12990C>G (p.Thr4330=) c.12975C>G (p.Thr4325=) c.12972C>G (p.Thr4324=) c.12957C>G (p.Thr4319=) c.12987C>G (p.Thr4329=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565324C>T	CA024027	RYR1	c.1400C>T c.1382C>T c.12990C>T (p.Thr4330=) c.12975C>T (p.Thr4325=) c.12972C>T (p.Thr4324=) c.12957C>T (p.Thr4319=) c.12987C>T (p.Thr4329=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.38565325G>A	CA405672881	RYR1	c.1401G>A c.1383G>A c.12991G>A (p.Ala4331Thr) c.12976G>A (p.Ala4326Thr) c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12988G>A (p.Ala4330Thr)	dbSNP gnomAD v4
19	g.38565325G>C	CA405672883	RYR1	c.1401G>C c.1383G>C c.12991G>C (p.Ala4331Pro) c.12976G>C (p.Ala4326Pro) c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12988G>C (p.Ala4330Pro)
19	g.38565325G=	CA2335084814	RYR1	c.1401G= c.1383G= c.12991G= (p.Ala4331=) c.12976G= (p.Ala4326=) c.12973G= (p.Ala4325=) c.12958G= (p.Ala4320=) c.12988G= (p.Ala4330=)
19	g.38565325G>T	CA405672885	RYR1	c.1401G>T c.1383G>T c.12991G>T (p.Ala4331Ser) c.12976G>T (p.Ala4326Ser) c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12988G>T (p.Ala4330Ser)
19	g.38565325_38565326insTG	CA995731646	RYR1	c.1401_1402insTG c.1383_1384insTG c.12991_12992insTG (p.Ala4331ValfsTer11) c.12976_12977insTG (p.Ala4326ValfsTer11) c.12973_12974insTG (p.Ala4325ValfsTer11) c.12958_12959insTG (p.Ala4320ValfsTer11) c.12988_12989insTG (p.Ala4330ValfsTer11)	dbSNP gnomAD v3 gnomAD v4
19	g.38565327_38565340del	CA2576772102	RYR1	c.1403_1416del c.1385_1398del c.12993_13006del (p.Val4332LeufsTer?) c.12978_12991del (p.Val4327LeufsTer?) c.12975_12988del (p.Val4326LeufsTer?) c.12960_12973del (p.Val4321LeufsTer?) c.12990_13003del (p.Val4331LeufsTer?)
19	g.38565331_38565354dup	CA2584909139	RYR1	c.1407_1430dup c.1389_1412dup c.12997_13020dup (p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal) c.12982_13005dup (p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal) c.12979_13002dup (p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal) c.12964_12987dup (p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal) c.12994_13017dup (p.Val4339_Thr4340insAlaAlaLeuLeuTrpAlaAlaVal)	gnomAD v4
19	g.38565326C>A	CA405672888	RYR1	c.1402C>A c.1384C>A c.12992C>A (p.Ala4331Glu) c.12977C>A (p.Ala4326Glu) c.12974C>A (p.Ala4325Glu) c.12959C>A (p.Ala4320Glu) c.12989C>A (p.Ala4330Glu)
19	g.38565326C>G	CA405672891	RYR1	c.1402C>G c.1384C>G c.12992C>G (p.Ala4331Gly) c.12977C>G (p.Ala4326Gly) c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12989C>G (p.Ala4330Gly)
19	g.38565326C>T	CA405672892	RYR1	c.1402C>T c.1384C>T c.12992C>T (p.Ala4331Val) c.12977C>T (p.Ala4326Val) c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12989C>T (p.Ala4330Val)	ClinVar
19	g.38565327A>C	CA507355749	RYR1	c.1403A>C c.1385A>C c.12993A>C (p.Ala4331=) c.12978A>C (p.Ala4326=) c.12975A>C (p.Ala4325=) c.12960A>C (p.Ala4320=) c.12990A>C (p.Ala4330=)
19	g.38565327A>G	CA507355750	RYR1	c.1403A>G c.1385A>G c.12993A>G (p.Ala4331=) c.12978A>G (p.Ala4326=) c.12975A>G (p.Ala4325=) c.12960A>G (p.Ala4320=) c.12990A>G (p.Ala4330=)
19	g.38565327A>T	CA507355752	RYR1	c.1403A>T c.1385A>T c.12993A>T (p.Ala4331=) c.12978A>T (p.Ala4326=) c.12975A>T (p.Ala4325=) c.12960A>T (p.Ala4320=) c.12990A>T (p.Ala4330=)	ClinVar
19	g.38565328G>A	CA405672893	RYR1	c.1404G>A c.1386G>A c.12994G>A (p.Val4332Met) c.12979G>A (p.Val4327Met) c.12976G>A (p.Val4326Met) c.12961G>A (p.Val4321Met) c.12991G>A (p.Val4331Met)	dbSNP gnomAD v3 gnomAD v4
19	g.38565328G>C	CA405672894	RYR1	c.1404G>C c.1386G>C c.12994G>C (p.Val4332Leu) c.12979G>C (p.Val4327Leu) c.12976G>C (p.Val4326Leu) c.12961G>C (p.Val4321Leu) c.12991G>C (p.Val4331Leu)
19	g.38565328G=	CA2335084815	RYR1	c.1404G= c.1386G= c.12994G= (p.Val4332=) c.12979G= (p.Val4327=) c.12976G= (p.Val4326=) c.12961G= (p.Val4321=) c.12991G= (p.Val4331=)
19	g.38565328G>T	CA405672895	RYR1	c.1404G>T c.1386G>T c.12994G>T (p.Val4332Leu) c.12979G>T (p.Val4327Leu) c.12976G>T (p.Val4326Leu) c.12961G>T (p.Val4321Leu) c.12991G>T (p.Val4331Leu)
19	g.38565329T>A	CA405672900	RYR1	c.1405T>A c.1387T>A c.12995T>A (p.Val4332Glu) c.12980T>A (p.Val4327Glu) c.12977T>A (p.Val4326Glu) c.12962T>A (p.Val4321Glu) c.12992T>A (p.Val4331Glu)
19	g.38565329T>C	CA405672898	RYR1	c.1405T>C c.1387T>C c.12995T>C (p.Val4332Ala) c.12980T>C (p.Val4327Ala) c.12977T>C (p.Val4326Ala) c.12962T>C (p.Val4321Ala) c.12992T>C (p.Val4331Ala)
19	g.38565329T>G	CA405672897	RYR1	c.1405T>G c.1387T>G c.12995T>G (p.Val4332Gly) c.12980T>G (p.Val4327Gly) c.12977T>G (p.Val4326Gly) c.12962T>G (p.Val4321Gly) c.12992T>G (p.Val4331Gly)

Number of alleles fetched