Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50720679_50720752del	CA2657583379	SHANK3	c.2447_2520del (p.Arg816ProfsTer?) n.3031_3104del c.1499_1572del (p.Arg500ProfsTer?) c.989_1062del (p.Arg330ProfsTer?) c.1445_1518del (n.1445_1518del) c.2843_2916del (p.Arg948ProfsTer?) c.2825_2898del (p.Arg942ProfsTer?)	gnomAD v4
22	g.50720722G>A	CA515260102	SHANK3	c.2490G>A (p.Ala830=) n.3074G>A c.1542G>A (p.Ala514=) c.1032G>A (p.Ala344=) c.1488G>A (n.1488G>A) c.2886G>A (p.Ala962=) c.2868G>A (p.Ala956=)	dbSNP gnomAD v4
22	g.50720722G>C	CA10325936	SHANK3	c.2490G>C (p.Ala830=) n.3074G>C c.1542G>C (p.Ala514=) c.1032G>C (p.Ala344=) c.1488G>C (n.1488G>C) c.2886G>C (p.Ala962=) c.2868G>C (p.Ala956=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720722G=	CA2411007776	SHANK3	c.2490G= (p.Ala830=) n.3074G= c.1542G= (p.Ala514=) c.1032G= (p.Ala344=) c.1488G= (n.1488G=) c.2886G= (p.Ala962=) c.2868G= (p.Ala956=)
22	g.50720722G>T	CA515260103	SHANK3	c.2490G>T (p.Ala830=) n.3074G>T c.1542G>T (p.Ala514=) c.1032G>T (p.Ala344=) c.1488G>T (n.1488G>T) c.2886G>T (p.Ala962=) c.2868G>T (p.Ala956=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720723C>A	CA515260104	SHANK3	c.2491C>A (p.Gln831Lys) n.3075C>A c.1543C>A (p.Gln515Lys) c.1033C>A (p.Gln345Lys) c.1489C>A (n.1489C>A) c.2887C>A (p.Gln963Lys) c.2869C>A (p.Gln957Lys)	dbSNP gnomAD v3 gnomAD v4
22	g.50720723C=	CA2411007777	SHANK3	c.2491C= (p.Gln831=) n.3075C= c.1543C= (p.Gln515=) c.1033C= (p.Gln345=) c.1489C= (n.1489C=) c.2887C= (p.Gln963=) c.2869C= (p.Gln957=)
22	g.50720723C>G	CA515260105	SHANK3	c.2491C>G (p.Gln831Glu) n.3075C>G c.1543C>G (p.Gln515Glu) c.1033C>G (p.Gln345Glu) c.1489C>G (n.1489C>G) c.2887C>G (p.Gln963Glu) c.2869C>G (p.Gln957Glu)	gnomAD v4
22	g.50720723C>T	CA515260106	SHANK3	c.2491C>T (p.Gln831Ter) n.3075C>T c.1543C>T (p.Gln515Ter) c.1033C>T (p.Gln345Ter) c.1489C>T (n.1489C>T) c.2887C>T (p.Gln963Ter) c.2869C>T (p.Gln957Ter)	gnomAD v4
22	g.50720724A>C	CA515260107	SHANK3	c.2492A>C (p.Gln831Pro) n.3076A>C c.1544A>C (p.Gln515Pro) c.1034A>C (p.Gln345Pro) c.1490A>C (n.1490A>C) c.2888A>C (p.Gln963Pro) c.2870A>C (p.Gln957Pro)	gnomAD v4
22	g.50720724A>G	CA515260108	SHANK3	c.2492A>G (p.Gln831Arg) n.3076A>G c.1544A>G (p.Gln515Arg) c.1034A>G (p.Gln345Arg) c.1490A>G (n.1490A>G) c.2888A>G (p.Gln963Arg) c.2870A>G (p.Gln957Arg)	gnomAD v4
22	g.50720724A>T	CA515260109	SHANK3	c.2492A>T (p.Gln831Leu) n.3076A>T c.1544A>T (p.Gln515Leu) c.1034A>T (p.Gln345Leu) c.1490A>T (n.1490A>T) c.2888A>T (p.Gln963Leu) c.2870A>T (p.Gln957Leu)	gnomAD v4
22	g.50720725G>A	CA515260110	SHANK3	c.2493G>A (p.Gln831=) n.3077G>A c.1545G>A (p.Gln515=) c.1035G>A (p.Gln345=) c.1491G>A (n.1491G>A) c.2889G>A (p.Gln963=) c.2871G>A (p.Gln957=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720725G>C	CA515260111	SHANK3	c.2493G>C (p.Gln831His) n.3077G>C c.1545G>C (p.Gln515His) c.1035G>C (p.Gln345His) c.1491G>C (n.1491G>C) c.2889G>C (p.Gln963His) c.2871G>C (p.Gln957His)	gnomAD v4
22	g.50720725G=	CA2411007778	SHANK3	c.2493G= (p.Gln831=) n.3077G= c.1545G= (p.Gln515=) c.1035G= (p.Gln345=) c.1491G= (n.1491G=) c.2889G= (p.Gln963=) c.2871G= (p.Gln957=)
22	g.50720725G>T	CA515260112	SHANK3	c.2493G>T (p.Gln831His) n.3077G>T c.1545G>T (p.Gln515His) c.1035G>T (p.Gln345His) c.1491G>T (n.1491G>T) c.2889G>T (p.Gln963His) c.2871G>T (p.Gln957His)	gnomAD v4
22	g.50720726G>A	CA515260113	SHANK3	c.2494G>A (p.Glu832Lys) n.3078G>A c.1546G>A (p.Glu516Lys) c.1036G>A (p.Glu346Lys) c.1492G>A (n.1492G>A) c.2890G>A (p.Glu964Lys) c.2872G>A (p.Glu958Lys)	gnomAD v4
22	g.50720726G>C	CA515260114	SHANK3	c.2494G>C (p.Glu832Gln) n.3078G>C c.1546G>C (p.Glu516Gln) c.1036G>C (p.Glu346Gln) c.1492G>C (n.1492G>C) c.2890G>C (p.Glu964Gln) c.2872G>C (p.Glu958Gln)	gnomAD v4
22	g.50720726G>T	CA515260115	SHANK3	c.2494G>T (p.Glu832Ter) n.3078G>T c.1546G>T (p.Glu516Ter) c.1036G>T (p.Glu346Ter) c.1492G>T (n.1492G>T) c.2890G>T (p.Glu964Ter) c.2872G>T (p.Glu958Ter)	gnomAD v4
22	g.50720727A=	CA2411007779	SHANK3	c.2495A= (p.Glu832=) n.3079A= c.1547A= (p.Glu516=) c.1037A= (p.Glu346=) c.1493A= (n.1493A=) c.2891A= (p.Glu964=) c.2873A= (p.Glu958=)
22	g.50720727A>C	CA515260118	SHANK3	c.2495A>C (p.Glu832Ala) n.3079A>C c.1547A>C (p.Glu516Ala) c.1037A>C (p.Glu346Ala) c.1493A>C (n.1493A>C) c.2891A>C (p.Glu964Ala) c.2873A>C (p.Glu958Ala)
22	g.50720727A>G	CA515260117	SHANK3	c.2495A>G (p.Glu832Gly) n.3079A>G c.1547A>G (p.Glu516Gly) c.1037A>G (p.Glu346Gly) c.1493A>G (n.1493A>G) c.2891A>G (p.Glu964Gly) c.2873A>G (p.Glu958Gly)	dbSNP gnomAD v3 gnomAD v4
22	g.50720727A>T	CA515260116	SHANK3	c.2495A>T (p.Glu832Val) n.3079A>T c.1547A>T (p.Glu516Val) c.1037A>T (p.Glu346Val) c.1493A>T (n.1493A>T) c.2891A>T (p.Glu964Val) c.2873A>T (p.Glu958Val)
22	g.50720728G>A	CA515260119	SHANK3	c.2496G>A (p.Glu832=) n.3080G>A c.1548G>A (p.Glu516=) c.1038G>A (p.Glu346=) c.1494G>A (n.1494G>A) c.2892G>A (p.Glu964=) c.2874G>A (p.Glu958=)	gnomAD v4
22	g.50720728G>C	CA515260120	SHANK3	c.2496G>C (p.Glu832Asp) n.3080G>C c.1548G>C (p.Glu516Asp) c.1038G>C (p.Glu346Asp) c.1494G>C (n.1494G>C) c.2892G>C (p.Glu964Asp) c.2874G>C (p.Glu958Asp)
22	g.50720728G>T	CA515260121	SHANK3	c.2496G>T (p.Glu832Asp) n.3080G>T c.1548G>T (p.Glu516Asp) c.1038G>T (p.Glu346Asp) c.1494G>T (n.1494G>T) c.2892G>T (p.Glu964Asp) c.2874G>T (p.Glu958Asp)	gnomAD v4
22	g.50720729C>A	CA515260122	SHANK3	c.2497C>A (p.Arg833Ser) n.3081C>A c.1549C>A (p.Arg517Ser) c.1039C>A (p.Arg347Ser) c.1495C>A (n.1495C>A) c.2893C>A (p.Arg965Ser) c.2875C>A (p.Arg959Ser)	gnomAD v4
22	g.50720729C>G	CA515260123	SHANK3	c.2497C>G (p.Arg833Gly) n.3081C>G c.1549C>G (p.Arg517Gly) c.1039C>G (p.Arg347Gly) c.1495C>G (n.1495C>G) c.2893C>G (p.Arg965Gly) c.2875C>G (p.Arg959Gly)	gnomAD v4
22	g.50720729C>T	CA515260124	SHANK3	c.2497C>T (p.Arg833Cys) n.3081C>T c.1549C>T (p.Arg517Cys) c.1039C>T (p.Arg347Cys) c.1495C>T (n.1495C>T) c.2893C>T (p.Arg965Cys) c.2875C>T (p.Arg959Cys)	gnomAD v4
22	g.50720730G>A	CA325578258	SHANK3	c.2498G>A (p.Arg833His) n.3082G>A c.1550G>A (p.Arg517His) c.1040G>A (p.Arg347His) c.1496G>A (n.1496G>A) c.2894G>A (p.Arg965His) c.2876G>A (p.Arg959His)	dbSNP gnomAD v4
22	g.50720730G>C	CA515260125	SHANK3	c.2498G>C (p.Arg833Pro) n.3082G>C c.1550G>C (p.Arg517Pro) c.1040G>C (p.Arg347Pro) c.1496G>C (n.1496G>C) c.2894G>C (p.Arg965Pro) c.2876G>C (p.Arg959Pro)	gnomAD v4
22	g.50720730G=	CA2411007780	SHANK3	c.2498G= (p.Arg833=) n.3082G= c.1550G= (p.Arg517=) c.1040G= (p.Arg347=) c.1496G= (n.1496G=) c.2894G= (p.Arg965=) c.2876G= (p.Arg959=)
22	g.50720730G>T	CA515260126	SHANK3	c.2498G>T (p.Arg833Leu) n.3082G>T c.1550G>T (p.Arg517Leu) c.1040G>T (p.Arg347Leu) c.1496G>T (n.1496G>T) c.2894G>T (p.Arg965Leu) c.2876G>T (p.Arg959Leu)	gnomAD v4
22	g.50720731C>A	CA515260127	SHANK3	c.2499C>A (p.Arg833=) n.3083C>A c.1551C>A (p.Arg517=) c.1041C>A (p.Arg347=) c.1497C>A (n.1497C>A) c.2895C>A (p.Arg965=) c.2877C>A (p.Arg959=)	gnomAD v4
22	g.50720731C=	CA2411007781	SHANK3	c.2499C= (p.Arg833=) n.3083C= c.1551C= (p.Arg517=) c.1041C= (p.Arg347=) c.1497C= (n.1497C=) c.2895C= (p.Arg965=) c.2877C= (p.Arg959=)
22	g.50720731C>G	CA515260128	SHANK3	c.2499C>G (p.Arg833=) n.3083C>G c.1551C>G (p.Arg517=) c.1041C>G (p.Arg347=) c.1497C>G (n.1497C>G) c.2895C>G (p.Arg965=) c.2877C>G (p.Arg959=)	gnomAD v4
22	g.50720731C>T	CA515260129	SHANK3	c.2499C>T (p.Arg833=) n.3083C>T c.1551C>T (p.Arg517=) c.1041C>T (p.Arg347=) c.1497C>T (n.1497C>T) c.2895C>T (p.Arg965=) c.2877C>T (p.Arg959=)	dbSNP gnomAD v4
22	g.50720732G>A	CA515260130	SHANK3	c.2500G>A (p.Ala834Thr) n.3084G>A c.1552G>A (p.Ala518Thr) c.1042G>A (p.Ala348Thr) c.1498G>A (n.1498G>A) c.2896G>A (p.Ala966Thr) c.2878G>A (p.Ala960Thr)	gnomAD v4
22	g.50720732G>C	CA325578260	SHANK3	c.2500G>C (p.Ala834Pro) n.3084G>C c.1552G>C (p.Ala518Pro) c.1042G>C (p.Ala348Pro) c.1498G>C (n.1498G>C) c.2896G>C (p.Ala966Pro) c.2878G>C (p.Ala960Pro)	dbSNP gnomAD v4
22	g.50720732G=	CA2411007782	SHANK3	c.2500G= (p.Ala834=) n.3084G= c.1552G= (p.Ala518=) c.1042G= (p.Ala348=) c.1498G= (n.1498G=) c.2896G= (p.Ala966=) c.2878G= (p.Ala960=)
22	g.50720732G>T	CA515260131	SHANK3	c.2500G>T (p.Ala834Ser) n.3084G>T c.1552G>T (p.Ala518Ser) c.1042G>T (p.Ala348Ser) c.1498G>T (n.1498G>T) c.2896G>T (p.Ala966Ser) c.2878G>T (p.Ala960Ser)	gnomAD v4
22	g.50720733C>A	CA515260132	SHANK3	c.2501C>A (p.Ala834Glu) n.3085C>A c.1553C>A (p.Ala518Glu) c.1043C>A (p.Ala348Glu) c.1499C>A (n.1499C>A) c.2897C>A (p.Ala966Glu) c.2879C>A (p.Ala960Glu)	gnomAD v4
22	g.50720733C=	CA2411007783	SHANK3	c.2501C= (p.Ala834=) n.3085C= c.1553C= (p.Ala518=) c.1043C= (p.Ala348=) c.1499C= (n.1499C=) c.2897C= (p.Ala966=) c.2879C= (p.Ala960=)
22	g.50720733C>G	CA515260134	SHANK3	c.2501C>G (p.Ala834Gly) n.3085C>G c.1553C>G (p.Ala518Gly) c.1043C>G (p.Ala348Gly) c.1499C>G (n.1499C>G) c.2897C>G (p.Ala966Gly) c.2879C>G (p.Ala960Gly)	gnomAD v4
22	g.50720733C>T	CA515260133	SHANK3	c.2501C>T (p.Ala834Val) n.3085C>T c.1553C>T (p.Ala518Val) c.1043C>T (p.Ala348Val) c.1499C>T (n.1499C>T) c.2897C>T (p.Ala966Val) c.2879C>T (p.Ala960Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50720734G>A	CA515260135	SHANK3	c.2502G>A (p.Ala834=) n.3086G>A c.1554G>A (p.Ala518=) c.1044G>A (p.Ala348=) c.1500G>A (n.1500G>A) c.2898G>A (p.Ala966=) c.2880G>A (p.Ala960=)	gnomAD v4
22	g.50720734G>C	CA515260136	SHANK3	c.2502G>C (p.Ala834=) n.3086G>C c.1554G>C (p.Ala518=) c.1044G>C (p.Ala348=) c.1500G>C (n.1500G>C) c.2898G>C (p.Ala966=) c.2880G>C (p.Ala960=)	gnomAD v4
22	g.50720734G>T	CA515260137	SHANK3	c.2502G>T (p.Ala834=) n.3086G>T c.1554G>T (p.Ala518=) c.1044G>T (p.Ala348=) c.1500G>T (n.1500G>T) c.2898G>T (p.Ala966=) c.2880G>T (p.Ala960=)	gnomAD v4
22	g.50720735G>A	CA515260138	SHANK3	c.2503G>A (p.Ala835Thr) n.3087G>A c.1555G>A (p.Ala519Thr) c.1045G>A (p.Ala349Thr) c.1501G>A (n.1501G>A) c.2899G>A (p.Ala967Thr) c.2881G>A (p.Ala961Thr)	gnomAD v4
22	g.50720735G>C	CA515260139	SHANK3	c.2503G>C (p.Ala835Pro) n.3087G>C c.1555G>C (p.Ala519Pro) c.1045G>C (p.Ala349Pro) c.1501G>C (n.1501G>C) c.2899G>C (p.Ala967Pro) c.2881G>C (p.Ala961Pro)	gnomAD v4
22	g.50720735G=	CA2411007784	SHANK3	c.2503G= (p.Ala835=) n.3087G= c.1555G= (p.Ala519=) c.1045G= (p.Ala349=) c.1501G= (n.1501G=) c.2899G= (p.Ala967=) c.2881G= (p.Ala961=)
22	g.50720735G>T	CA515260140	SHANK3	c.2503G>T (p.Ala835Ser) n.3087G>T c.1555G>T (p.Ala519Ser) c.1045G>T (p.Ala349Ser) c.1501G>T (n.1501G>T) c.2899G>T (p.Ala967Ser) c.2881G>T (p.Ala961Ser)	gnomAD v4
22	g.50720736C>A	CA515260141	SHANK3	c.2504C>A (p.Ala835Asp) n.3088C>A c.1556C>A (p.Ala519Asp) c.1046C>A (p.Ala349Asp) c.1502C>A (n.1502C>A) c.2900C>A (p.Ala967Asp) c.2882C>A (p.Ala961Asp)	ClinVar dbSNP gnomAD v4
22	g.50720736C>G	CA515260142	SHANK3	c.2504C>G (p.Ala835Gly) n.3088C>G c.1556C>G (p.Ala519Gly) c.1046C>G (p.Ala349Gly) c.1502C>G (n.1502C>G) c.2900C>G (p.Ala967Gly) c.2882C>G (p.Ala961Gly)	gnomAD v4
22	g.50720736C>T	CA515260143	SHANK3	c.2504C>T (p.Ala835Val) n.3088C>T c.1556C>T (p.Ala519Val) c.1046C>T (p.Ala349Val) c.1502C>T (n.1502C>T) c.2900C>T (p.Ala967Val) c.2882C>T (p.Ala961Val)	gnomAD v4
22	g.50720738dup	CA640358966	SHANK3	c.2506dup (p.Leu836ProfsTer?) n.3090dup c.1558dup (p.Leu520ProfsTer?) c.1048dup (p.Leu350ProfsTer?) c.1504dup (n.1504dup) c.2902dup (p.Leu968ProfsTer?) c.2884dup (p.Leu962ProfsTer?)	dbSNP gnomAD v2
22	g.50720738del	CA2657583395	SHANK3	c.2506del (p.Leu836TrpfsTer?) n.3090del c.1558del (p.Leu520TrpfsTer?) c.1048del (p.Leu350TrpfsTer?) c.1504del (n.1504del) c.2902del (p.Leu968TrpfsTer?) c.2884del (p.Leu962TrpfsTer?)	gnomAD v4
22	g.50720737C>A	CA515260144	SHANK3	c.2505C>A (p.Ala835=) n.3089C>A c.1557C>A (p.Ala519=) c.1047C>A (p.Ala349=) c.1503C>A (n.1503C>A) c.2901C>A (p.Ala967=) c.2883C>A (p.Ala961=)	gnomAD v4
22	g.50720737C>G	CA515260145	SHANK3	c.2505C>G (p.Ala835=) n.3089C>G c.1557C>G (p.Ala519=) c.1047C>G (p.Ala349=) c.1503C>G (n.1503C>G) c.2901C>G (p.Ala967=) c.2883C>G (p.Ala961=)
22	g.50720737C>T	CA515260146	SHANK3	c.2505C>T (p.Ala835=) n.3089C>T c.1557C>T (p.Ala519=) c.1047C>T (p.Ala349=) c.1503C>T (n.1503C>T) c.2901C>T (p.Ala967=) c.2883C>T (p.Ala961=)	gnomAD v4
22	g.50720738C>A	CA515260147	SHANK3	c.2506C>A (p.Leu836Met) n.3090C>A c.1558C>A (p.Leu520Met) c.1048C>A (p.Leu350Met) c.1504C>A (n.1504C>A) c.2902C>A (p.Leu968Met) c.2884C>A (p.Leu962Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720738C=	CA2411007785	SHANK3	c.2506C= (p.Leu836=) n.3090C= c.1558C= (p.Leu520=) c.1048C= (p.Leu350=) c.1504C= (n.1504C=) c.2902C= (p.Leu968=) c.2884C= (p.Leu962=)
22	g.50720738C>G	CA515260149	SHANK3	c.2506C>G (p.Leu836Val) n.3090C>G c.1558C>G (p.Leu520Val) c.1048C>G (p.Leu350Val) c.1504C>G (n.1504C>G) c.2902C>G (p.Leu968Val) c.2884C>G (p.Leu962Val)	ClinVar
22	g.50720738C>T	CA515260148	SHANK3	c.2506C>T (p.Leu836=) n.3090C>T c.1558C>T (p.Leu520=) c.1048C>T (p.Leu350=) c.1504C>T (n.1504C>T) c.2902C>T (p.Leu968=) c.2884C>T (p.Leu962=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720738_50720741delinsCTGG	CA2411007786	SHANK3	c.2506_2509delinsCTGG (p.Leu836=) n.3090_3093delinsCTGG c.1558_1561delinsCTGG (p.Leu520=) c.1048_1051delinsCTGG (p.Leu350=) c.1504_1507delinsCTGG (n.1504_1507delinsCTGG) c.2902_2905delinsCTGG (p.Leu968=) c.2884_2887delinsCTGG (p.Leu962=)
22	g.50720739T>A	CA515260150	SHANK3	c.2507T>A (p.Leu836Gln) n.3091T>A c.1559T>A (p.Leu520Gln) c.1049T>A (p.Leu350Gln) c.1505T>A (n.1505T>A) c.2903T>A (p.Leu968Gln) c.2885T>A (p.Leu962Gln)	gnomAD v4
22	g.50720739T>C	CA515260151	SHANK3	c.2507T>C (p.Leu836Pro) n.3091T>C c.1559T>C (p.Leu520Pro) c.1049T>C (p.Leu350Pro) c.1505T>C (n.1505T>C) c.2903T>C (p.Leu968Pro) c.2885T>C (p.Leu962Pro)	gnomAD v4
22	g.50720739T>G	CA515260152	SHANK3	c.2507T>G (p.Leu836Arg) n.3091T>G c.1559T>G (p.Leu520Arg) c.1049T>G (p.Leu350Arg) c.1505T>G (n.1505T>G) c.2903T>G (p.Leu968Arg) c.2885T>G (p.Leu962Arg)	gnomAD v4
22	g.50720739T=	CA2411007787	SHANK3	c.2507T= (p.Leu836=) n.3091T= c.1559T= (p.Leu520=) c.1049T= (p.Leu350=) c.1505T= (n.1505T=) c.2903T= (p.Leu968=) c.2885T= (p.Leu962=)
22	g.50720739_50720741del	CA640358967	SHANK3	c.2507_2509del (p.Leu836_Ala837delinsPro) n.3091_3093del c.1559_1561del (p.Leu520_Ala521delinsPro) c.1049_1051del (p.Leu350_Ala351delinsPro) c.1505_1507del (n.1505_1507del) c.2903_2905del (p.Leu968_Ala969delinsPro) c.2885_2887del (p.Leu962_Ala963delinsPro)	dbSNP gnomAD v2
22	g.50720740G>A	CA515260153	SHANK3	c.2508G>A (p.Leu836=) n.3092G>A c.1560G>A (p.Leu520=) c.1050G>A (p.Leu350=) c.1506G>A (n.1506G>A) c.2904G>A (p.Leu968=) c.2886G>A (p.Leu962=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720740G>C	CA515260154	SHANK3	c.2508G>C (p.Leu836=) n.3092G>C c.1560G>C (p.Leu520=) c.1050G>C (p.Leu350=) c.1506G>C (n.1506G>C) c.2904G>C (p.Leu968=) c.2886G>C (p.Leu962=)	gnomAD v4
22	g.50720740G=	CA2411007788	SHANK3	c.2508G= (p.Leu836=) n.3092G= c.1560G= (p.Leu520=) c.1050G= (p.Leu350=) c.1506G= (n.1506G=) c.2904G= (p.Leu968=) c.2886G= (p.Leu962=)
22	g.50720740G>T	CA515260155	SHANK3	c.2508G>T (p.Leu836=) n.3092G>T c.1560G>T (p.Leu520=) c.1050G>T (p.Leu350=) c.1506G>T (n.1506G>T) c.2904G>T (p.Leu968=) c.2886G>T (p.Leu962=)	gnomAD v4
22	g.50720741del	CA2657583396	SHANK3	c.2509del (p.Ala837ProfsTer?) n.3093del c.1561del (p.Ala521ProfsTer?) c.1051del (p.Ala351ProfsTer?) c.1507del (n.1507del) c.2905del (p.Ala969ProfsTer?) c.2887del (p.Ala963ProfsTer?)	gnomAD v4
22	g.50720742_50720757dup	CA10581460	SHANK3	c.2510_2525dup (p.Pro843ArgfsTer?) n.3094_3109dup c.1562_1577dup (p.Pro527ArgfsTer?) c.1052_1067dup (p.Pro357ArgfsTer?) c.1508_1523dup (n.1508_1523dup) c.2906_2921dup (p.Pro975ArgfsTer?) c.2888_2903dup (p.Pro969ArgfsTer?)	ClinVar dbSNP
22	g.50720741G>A	CA515260156	SHANK3	c.2509G>A (p.Ala837Thr) n.3093G>A c.1561G>A (p.Ala521Thr) c.1051G>A (p.Ala351Thr) c.1507G>A (n.1507G>A) c.2905G>A (p.Ala969Thr) c.2887G>A (p.Ala963Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720741G>C	CA515260157	SHANK3	c.2509G>C (p.Ala837Pro) n.3093G>C c.1561G>C (p.Ala521Pro) c.1051G>C (p.Ala351Pro) c.1507G>C (n.1507G>C) c.2905G>C (p.Ala969Pro) c.2887G>C (p.Ala963Pro)	dbSNP gnomAD v3 gnomAD v4
22	g.50720741G=	CA2411007789	SHANK3	c.2509G= (p.Ala837=) n.3093G= c.1561G= (p.Ala521=) c.1051G= (p.Ala351=) c.1507G= (n.1507G=) c.2905G= (p.Ala969=) c.2887G= (p.Ala963=)
22	g.50720741G>T	CA10325937	SHANK3	c.2509G>T (p.Ala837Ser) n.3093G>T c.1561G>T (p.Ala521Ser) c.1051G>T (p.Ala351Ser) c.1507G>T (n.1507G>T) c.2905G>T (p.Ala969Ser) c.2887G>T (p.Ala963Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720742C>A	CA515260159	SHANK3	c.2510C>A (p.Ala837Asp) n.3094C>A c.1562C>A (p.Ala521Asp) c.1052C>A (p.Ala351Asp) c.1508C>A (n.1508C>A) c.2906C>A (p.Ala969Asp) c.2888C>A (p.Ala963Asp)	gnomAD v4
22	g.50720742C=	CA2411007790	SHANK3	c.2510C= (p.Ala837=) n.3094C= c.1562C= (p.Ala521=) c.1052C= (p.Ala351=) c.1508C= (n.1508C=) c.2906C= (p.Ala969=) c.2888C= (p.Ala963=)
22	g.50720742C>G	CA515260160	SHANK3	c.2510C>G (p.Ala837Gly) n.3094C>G c.1562C>G (p.Ala521Gly) c.1052C>G (p.Ala351Gly) c.1508C>G (n.1508C>G) c.2906C>G (p.Ala969Gly) c.2888C>G (p.Ala963Gly)	gnomAD v4
22	g.50720742C>T	CA515260158	SHANK3	c.2510C>T (p.Ala837Val) n.3094C>T c.1562C>T (p.Ala521Val) c.1052C>T (p.Ala351Val) c.1508C>T (n.1508C>T) c.2906C>T (p.Ala969Val) c.2888C>T (p.Ala963Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50720743C>A	CA515260161	SHANK3	c.2511C>A (p.Ala837=) n.3095C>A c.1563C>A (p.Ala521=) c.1053C>A (p.Ala351=) c.1509C>A (n.1509C>A) c.2907C>A (p.Ala969=) c.2889C>A (p.Ala963=)	dbSNP gnomAD v4
22	g.50720743C=	CA2411007791	SHANK3	c.2511C= (p.Ala837=) n.3095C= c.1563C= (p.Ala521=) c.1053C= (p.Ala351=) c.1509C= (n.1509C=) c.2907C= (p.Ala969=) c.2889C= (p.Ala963=)
22	g.50720743C>G	CA515260162	SHANK3	c.2511C>G (p.Ala837=) n.3095C>G c.1563C>G (p.Ala521=) c.1053C>G (p.Ala351=) c.1509C>G (n.1509C>G) c.2907C>G (p.Ala969=) c.2889C>G (p.Ala963=)	gnomAD v4
22	g.50720743C>T	CA325578267	SHANK3	c.2511C>T (p.Ala837=) n.3095C>T c.1563C>T (p.Ala521=) c.1053C>T (p.Ala351=) c.1509C>T (n.1509C>T) c.2907C>T (p.Ala969=) c.2889C>T (p.Ala963=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720744del	CA2657583397	SHANK3	c.2512del (p.Val838TrpfsTer?) n.3096del c.1564del (p.Val522TrpfsTer?) c.1054del (p.Val352TrpfsTer?) c.1510del (n.1510del) c.2908del (p.Val970TrpfsTer?) c.2890del (p.Val964TrpfsTer?)	gnomAD v4
22	g.50720744G>A	CA515260163	SHANK3	c.2512G>A (p.Val838Met) n.3096G>A c.1564G>A (p.Val522Met) c.1054G>A (p.Val352Met) c.1510G>A (n.1510G>A) c.2908G>A (p.Val970Met) c.2890G>A (p.Val964Met)	dbSNP gnomAD v3 gnomAD v4
22	g.50720744G>C	CA515260164	SHANK3	c.2512G>C (p.Val838Leu) n.3096G>C c.1564G>C (p.Val522Leu) c.1054G>C (p.Val352Leu) c.1510G>C (n.1510G>C) c.2908G>C (p.Val970Leu) c.2890G>C (p.Val964Leu)	gnomAD v4
22	g.50720744G=	CA2411007792	SHANK3	c.2512G= (p.Val838=) n.3096G= c.1564G= (p.Val522=) c.1054G= (p.Val352=) c.1510G= (n.1510G=) c.2908G= (p.Val970=) c.2890G= (p.Val964=)
22	g.50720744G>T	CA515260165	SHANK3	c.2512G>T (p.Val838Leu) n.3096G>T c.1564G>T (p.Val522Leu) c.1054G>T (p.Val352Leu) c.1510G>T (n.1510G>T) c.2908G>T (p.Val970Leu) c.2890G>T (p.Val964Leu)	gnomAD v4
22	g.50720745T>A	CA515260166	SHANK3	c.2513T>A (p.Val838Glu) n.3097T>A c.1565T>A (p.Val522Glu) c.1055T>A (p.Val352Glu) c.1511T>A (n.1511T>A) c.2909T>A (p.Val970Glu) c.2891T>A (p.Val964Glu)	gnomAD v4
22	g.50720745T>C	CA515260167	SHANK3	c.2513T>C (p.Val838Ala) n.3097T>C c.1565T>C (p.Val522Ala) c.1055T>C (p.Val352Ala) c.1511T>C (n.1511T>C) c.2909T>C (p.Val970Ala) c.2891T>C (p.Val964Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50720745T>G	CA515260168	SHANK3	c.2513T>G (p.Val838Gly) n.3097T>G c.1565T>G (p.Val522Gly) c.1055T>G (p.Val352Gly) c.1511T>G (n.1511T>G) c.2909T>G (p.Val970Gly) c.2891T>G (p.Val964Gly)
22	g.50720745T=	CA2411007793	SHANK3	c.2513T= (p.Val838=) n.3097T= c.1565T= (p.Val522=) c.1055T= (p.Val352=) c.1511T= (n.1511T=) c.2909T= (p.Val970=) c.2891T= (p.Val964=)
22	g.50720746G>A	CA515260169	SHANK3	c.2514G>A (p.Val838=) n.3098G>A c.1566G>A (p.Val522=) c.1056G>A (p.Val352=) c.1512G>A (n.1512G>A) c.2910G>A (p.Val970=) c.2892G>A (p.Val964=)	gnomAD v4
22	g.50720746G>C	CA515260170	SHANK3	c.2514G>C (p.Val838=) n.3098G>C c.1566G>C (p.Val522=) c.1056G>C (p.Val352=) c.1512G>C (n.1512G>C) c.2910G>C (p.Val970=) c.2892G>C (p.Val964=)	dbSNP gnomAD v4
22	g.50720746G=	CA2411007794	SHANK3	c.2514G= (p.Val838=) n.3098G= c.1566G= (p.Val522=) c.1056G= (p.Val352=) c.1512G= (n.1512G=) c.2910G= (p.Val970=) c.2892G= (p.Val964=)
22	g.50720746G>T	CA515260171	SHANK3	c.2514G>T (p.Val838=) n.3098G>T c.1566G>T (p.Val522=) c.1056G>T (p.Val352=) c.1512G>T (n.1512G>T) c.2910G>T (p.Val970=) c.2892G>T (p.Val964=)	gnomAD v4
22	g.50720748del	CA2657583398	SHANK3	c.2516del (p.Gly839AlafsTer?) n.3100del c.1568del (p.Gly523AlafsTer?) c.1058del (p.Gly353AlafsTer?) c.1514del (n.1514del) c.2912del (p.Gly971AlafsTer?) c.2894del (p.Gly965AlafsTer?)	gnomAD v4
22	g.50720747_50720748del	CA2819316001	SHANK3	c.2515_2516del (p.Gly839GlnfsTer?) n.3099_3100del c.1567_1568del (p.Gly523GlnfsTer?) c.1057_1058del (p.Gly353GlnfsTer?) c.1513_1514del (n.1513_1514del) c.2911_2912del (p.Gly971GlnfsTer?) c.2893_2894del (p.Gly965GlnfsTer?)
22	g.50720747G>A	CA515260174	SHANK3	c.2515G>A (p.Gly839Ser) n.3099G>A c.1567G>A (p.Gly523Ser) c.1057G>A (p.Gly353Ser) c.1513G>A (n.1513G>A) c.2911G>A (p.Gly971Ser) c.2893G>A (p.Gly965Ser)	gnomAD v4
22	g.50720747G>C	CA515260172	SHANK3	c.2515G>C (p.Gly839Arg) n.3099G>C c.1567G>C (p.Gly523Arg) c.1057G>C (p.Gly353Arg) c.1513G>C (n.1513G>C) c.2911G>C (p.Gly971Arg) c.2893G>C (p.Gly965Arg)	gnomAD v4
22	g.50720747G>T	CA515260173	SHANK3	c.2515G>T (p.Gly839Cys) n.3099G>T c.1567G>T (p.Gly523Cys) c.1057G>T (p.Gly353Cys) c.1513G>T (n.1513G>T) c.2911G>T (p.Gly971Cys) c.2893G>T (p.Gly965Cys)	gnomAD v4
22	g.50720748G>A	CA515260175	SHANK3	c.2516G>A (p.Gly839Asp) n.3100G>A c.1568G>A (p.Gly523Asp) c.1058G>A (p.Gly353Asp) c.1514G>A (n.1514G>A) c.2912G>A (p.Gly971Asp) c.2894G>A (p.Gly965Asp)	gnomAD v4
22	g.50720748G>C	CA515260176	SHANK3	c.2516G>C (p.Gly839Ala) n.3100G>C c.1568G>C (p.Gly523Ala) c.1058G>C (p.Gly353Ala) c.1514G>C (n.1514G>C) c.2912G>C (p.Gly971Ala) c.2894G>C (p.Gly965Ala)
22	g.50720748G>T	CA515260177	SHANK3	c.2516G>T (p.Gly839Val) n.3100G>T c.1568G>T (p.Gly523Val) c.1058G>T (p.Gly353Val) c.1514G>T (n.1514G>T) c.2912G>T (p.Gly971Val) c.2894G>T (p.Gly965Val)	gnomAD v4
22	g.50720749C>A	CA515260178	SHANK3	c.2517C>A (p.Gly839=) n.3101C>A c.1569C>A (p.Gly523=) c.1059C>A (p.Gly353=) c.1515C>A (n.1515C>A) c.2913C>A (p.Gly971=) c.2895C>A (p.Gly965=)	gnomAD v4
22	g.50720749C=	CA2411007795	SHANK3	c.2517C= (p.Gly839=) n.3101C= c.1569C= (p.Gly523=) c.1059C= (p.Gly353=) c.1515C= (n.1515C=) c.2913C= (p.Gly971=) c.2895C= (p.Gly965=)
22	g.50720749C>G	CA515260179	SHANK3	c.2517C>G (p.Gly839=) n.3101C>G c.1569C>G (p.Gly523=) c.1059C>G (p.Gly353=) c.1515C>G (n.1515C>G) c.2913C>G (p.Gly971=) c.2895C>G (p.Gly965=)	gnomAD v4
22	g.50720749C>T	CA515260180	SHANK3	c.2517C>T (p.Gly839=) n.3101C>T c.1569C>T (p.Gly523=) c.1059C>T (p.Gly353=) c.1515C>T (n.1515C>T) c.2913C>T (p.Gly971=) c.2895C>T (p.Gly965=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720750A>C	CA515260181	SHANK3	c.2518A>C (p.Ser840Arg) n.3102A>C c.1570A>C (p.Ser524Arg) c.1060A>C (p.Ser354Arg) c.1516A>C (n.1516A>C) c.2914A>C (p.Ser972Arg) c.2896A>C (p.Ser966Arg)	gnomAD v4
22	g.50720750A>G	CA515260182	SHANK3	c.2518A>G (p.Ser840Gly) n.3102A>G c.1570A>G (p.Ser524Gly) c.1060A>G (p.Ser354Gly) c.1516A>G (n.1516A>G) c.2914A>G (p.Ser972Gly) c.2896A>G (p.Ser966Gly)	gnomAD v4
22	g.50720750A>T	CA515260183	SHANK3	c.2518A>T (p.Ser840Cys) n.3102A>T c.1570A>T (p.Ser524Cys) c.1060A>T (p.Ser354Cys) c.1516A>T (n.1516A>T) c.2914A>T (p.Ser972Cys) c.2896A>T (p.Ser966Cys)	gnomAD v4
22	g.50720751G>A	CA515260184	SHANK3	c.2519G>A (p.Ser840Asn) n.3103G>A c.1571G>A (p.Ser524Asn) c.1061G>A (p.Ser354Asn) c.1517G>A (n.1517G>A) c.2915G>A (p.Ser972Asn) c.2897G>A (p.Ser966Asn)	gnomAD v4
22	g.50720751G>C	CA515260185	SHANK3	c.2519G>C (p.Ser840Thr) n.3103G>C c.1571G>C (p.Ser524Thr) c.1061G>C (p.Ser354Thr) c.1517G>C (n.1517G>C) c.2915G>C (p.Ser972Thr) c.2897G>C (p.Ser966Thr)	gnomAD v4
22	g.50720751G=	CA2411007796	SHANK3	c.2519G= (p.Ser840=) n.3103G= c.1571G= (p.Ser524=) c.1061G= (p.Ser354=) c.1517G= (n.1517G=) c.2915G= (p.Ser972=) c.2897G= (p.Ser966=)
22	g.50720751G>T	CA515260186	SHANK3	c.2519G>T (p.Ser840Ile) n.3103G>T c.1571G>T (p.Ser524Ile) c.1061G>T (p.Ser354Ile) c.1517G>T (n.1517G>T) c.2915G>T (p.Ser972Ile) c.2897G>T (p.Ser966Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720752C>A	CA515260187	SHANK3	c.2520C>A (p.Ser840Arg) n.3104C>A c.1572C>A (p.Ser524Arg) c.1062C>A (p.Ser354Arg) c.1518C>A (n.1518C>A) c.2916C>A (p.Ser972Arg) c.2898C>A (p.Ser966Arg)	gnomAD v4
22	g.50720752C=	CA2411007797	SHANK3	c.2520C= (p.Ser840=) n.3104C= c.1572C= (p.Ser524=) c.1062C= (p.Ser354=) c.1518C= (n.1518C=) c.2916C= (p.Ser972=) c.2898C= (p.Ser966=)
22	g.50720752C>G	CA515260188	SHANK3	c.2520C>G (p.Ser840Arg) n.3104C>G c.1572C>G (p.Ser524Arg) c.1062C>G (p.Ser354Arg) c.1518C>G (n.1518C>G) c.2916C>G (p.Ser972Arg) c.2898C>G (p.Ser966Arg)	gnomAD v4
22	g.50720752C>T	CA10325938	SHANK3	c.2520C>T (p.Ser840=) n.3104C>T c.1572C>T (p.Ser524=) c.1062C>T (p.Ser354=) c.1518C>T (n.1518C>T) c.2916C>T (p.Ser972=) c.2898C>T (p.Ser966=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720755del	CA2657583399	SHANK3	c.2523del (p.Gly842ValfsTer?) n.3107del c.1575del (p.Gly526ValfsTer?) c.1065del (p.Gly356ValfsTer?) c.1521del (n.1521del) c.2919del (p.Gly974ValfsTer?) c.2901del (p.Gly968ValfsTer?)	gnomAD v4
22	g.50720753C>A	CA515260190	SHANK3	c.2521C>A (p.Pro841Thr) n.3105C>A c.1573C>A (p.Pro525Thr) c.1063C>A (p.Pro355Thr) c.1519C>A (n.1519C>A) c.2917C>A (p.Pro973Thr) c.2899C>A (p.Pro967Thr)	gnomAD v4
22	g.50720753C=	CA2411007798	SHANK3	c.2521C= (p.Pro841=) n.3105C= c.1573C= (p.Pro525=) c.1063C= (p.Pro355=) c.1519C= (n.1519C=) c.2917C= (p.Pro973=) c.2899C= (p.Pro967=)
22	g.50720753C>G	CA515260189	SHANK3	c.2521C>G (p.Pro841Ala) n.3105C>G c.1573C>G (p.Pro525Ala) c.1063C>G (p.Pro355Ala) c.1519C>G (n.1519C>G) c.2917C>G (p.Pro973Ala) c.2899C>G (p.Pro967Ala)
22	g.50720753C>T	CA10325939	SHANK3	c.2521C>T (p.Pro841Ser) n.3105C>T c.1573C>T (p.Pro525Ser) c.1063C>T (p.Pro355Ser) c.1519C>T (n.1519C>T) c.2917C>T (p.Pro973Ser) c.2899C>T (p.Pro967Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720754C>A	CA515260191	SHANK3	c.2522C>A (p.Pro841His) n.3106C>A c.1574C>A (p.Pro525His) c.1064C>A (p.Pro355His) c.1520C>A (n.1520C>A) c.2918C>A (p.Pro973His) c.2900C>A (p.Pro967His)	gnomAD v4
22	g.50720754C=	CA2411007799	SHANK3	c.2522C= (p.Pro841=) n.3106C= c.1574C= (p.Pro525=) c.1064C= (p.Pro355=) c.1520C= (n.1520C=) c.2918C= (p.Pro973=) c.2900C= (p.Pro967=)
22	g.50720754C>G	CA515260192	SHANK3	c.2522C>G (p.Pro841Arg) n.3106C>G c.1574C>G (p.Pro525Arg) c.1064C>G (p.Pro355Arg) c.1520C>G (n.1520C>G) c.2918C>G (p.Pro973Arg) c.2900C>G (p.Pro967Arg)	gnomAD v4
22	g.50720754C>T	CA515260193	SHANK3	c.2522C>T (p.Pro841Leu) n.3106C>T c.1574C>T (p.Pro525Leu) c.1064C>T (p.Pro355Leu) c.1520C>T (n.1520C>T) c.2918C>T (p.Pro973Leu) c.2900C>T (p.Pro967Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720755C>A	CA515260196	SHANK3	c.2523C>A (p.Pro841=) n.3107C>A c.1575C>A (p.Pro525=) c.1065C>A (p.Pro355=) c.1521C>A (n.1521C>A) c.2919C>A (p.Pro973=) c.2901C>A (p.Pro967=)	gnomAD v4
22	g.50720755C=	CA2411007800	SHANK3	c.2523C= (p.Pro841=) n.3107C= c.1575C= (p.Pro525=) c.1065C= (p.Pro355=) c.1521C= (n.1521C=) c.2919C= (p.Pro973=) c.2901C= (p.Pro967=)
22	g.50720755C>G	CA515260195	SHANK3	c.2523C>G (p.Pro841=) n.3107C>G c.1575C>G (p.Pro525=) c.1065C>G (p.Pro355=) c.1521C>G (n.1521C>G) c.2919C>G (p.Pro973=) c.2901C>G (p.Pro967=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720755C>T	CA515260194	SHANK3	c.2523C>T (p.Pro841=) n.3107C>T c.1575C>T (p.Pro525=) c.1065C>T (p.Pro355=) c.1521C>T (n.1521C>T) c.2919C>T (p.Pro973=) c.2901C>T (p.Pro967=)	dbSNP gnomAD v4
22	g.50720755_50720756insT	CA2657583400	SHANK3	c.2523_2524insT (p.Gly842TrpfsTer?) n.3107_3108insT c.1575_1576insT (p.Gly526TrpfsTer?) c.1065_1066insT (p.Gly356TrpfsTer?) c.1521_1522insT (n.1521_1522insT) c.2919_2920insT (p.Gly974TrpfsTer?) c.2901_2902insT (p.Gly968TrpfsTer?)	gnomAD v4
22	g.50720756G>A	CA515260197	SHANK3	c.2524G>A (p.Gly842Ser) n.3108G>A c.1576G>A (p.Gly526Ser) c.1066G>A (p.Gly356Ser) c.1522G>A (n.1522G>A) c.2920G>A (p.Gly974Ser) c.2902G>A (p.Gly968Ser)	gnomAD v4
22	g.50720756G>C	CA515260198	SHANK3	c.2524G>C (p.Gly842Arg) n.3108G>C c.1576G>C (p.Gly526Arg) c.1066G>C (p.Gly356Arg) c.1522G>C (n.1522G>C) c.2920G>C (p.Gly974Arg) c.2902G>C (p.Gly968Arg)	gnomAD v4
22	g.50720756G>T	CA515260199	SHANK3	c.2524G>T (p.Gly842Cys) n.3108G>T c.1576G>T (p.Gly526Cys) c.1066G>T (p.Gly356Cys) c.1522G>T (n.1522G>T) c.2920G>T (p.Gly974Cys) c.2902G>T (p.Gly968Cys)	gnomAD v4
22	g.50720757G>A	CA515260200	SHANK3	c.2525G>A (p.Gly842Asp) n.3109G>A c.1577G>A (p.Gly526Asp) c.1067G>A (p.Gly356Asp) c.1523G>A (n.1523G>A) c.2921G>A (p.Gly974Asp) c.2903G>A (p.Gly968Asp)	dbSNP gnomAD v4
22	g.50720757G>C	CA515260201	SHANK3	c.2525G>C (p.Gly842Ala) n.3109G>C c.1577G>C (p.Gly526Ala) c.1067G>C (p.Gly356Ala) c.1523G>C (n.1523G>C) c.2921G>C (p.Gly974Ala) c.2903G>C (p.Gly968Ala)
22	g.50720757G=	CA2411007801	SHANK3	c.2525G= (p.Gly842=) n.3109G= c.1577G= (p.Gly526=) c.1067G= (p.Gly356=) c.1523G= (n.1523G=) c.2921G= (p.Gly974=) c.2903G= (p.Gly968=)
22	g.50720757G>T	CA515260202	SHANK3	c.2525G>T (p.Gly842Val) n.3109G>T c.1577G>T (p.Gly526Val) c.1067G>T (p.Gly356Val) c.1523G>T (n.1523G>T) c.2921G>T (p.Gly974Val) c.2903G>T (p.Gly968Val)	gnomAD v4
22	g.50720757_50720758delinsGT	CA2411007802	SHANK3	c.2525_2526delinsGT (p.Gly842=) n.3109_3110delinsGT c.1577_1578delinsGT (p.Gly526=) c.1067_1068delinsGT (p.Gly356=) c.1523_1524delinsGT (n.1523_1524delinsGT) c.2921_2922delinsGT (p.Gly974=) c.2903_2904delinsGT (p.Gly968=)
22	g.50720758del	CA2411007803	SHANK3	c.2526del (p.Gly844AlafsTer?) n.3110del c.1578del (p.Gly528AlafsTer?) c.1068del (p.Gly358AlafsTer?) c.1524del (n.1524del) c.2922del (p.Gly976AlafsTer?) c.2904del (p.Gly970AlafsTer?)	dbSNP
22	g.50720758T>A	CA515260205	SHANK3	c.2526T>A (p.Gly842=) n.3110T>A c.1578T>A (p.Gly526=) c.1068T>A (p.Gly356=) c.1524T>A (n.1524T>A) c.2922T>A (p.Gly974=) c.2904T>A (p.Gly968=)
22	g.50720758T>C	CA515260203	SHANK3	c.2526T>C (p.Gly842=) n.3110T>C c.1578T>C (p.Gly526=) c.1068T>C (p.Gly356=) c.1524T>C (n.1524T>C) c.2922T>C (p.Gly974=) c.2904T>C (p.Gly968=)	gnomAD v4
22	g.50720758T>G	CA515260204	SHANK3	c.2526T>G (p.Gly842=) n.3110T>G c.1578T>G (p.Gly526=) c.1068T>G (p.Gly356=) c.1524T>G (n.1524T>G) c.2922T>G (p.Gly974=) c.2904T>G (p.Gly968=)
22	g.50720758_50720759delinsTC	CA2411007804	SHANK3	c.2526_2527delinsTC (p.Gly842=) n.3110_3111delinsTC c.1578_1579delinsTC (p.Gly526=) c.1068_1069delinsTC (p.Gly356=) c.1524_1525delinsTC (n.1524_1525delinsTC) c.2922_2923delinsTC (p.Gly974=) c.2904_2905delinsTC (p.Gly968=)
22	g.50720759C>A	CA515260206	SHANK3	c.2527C>A (p.Pro843Thr) n.3111C>A c.1579C>A (p.Pro527Thr) c.1069C>A (p.Pro357Thr) c.1525C>A (n.1525C>A) c.2923C>A (p.Pro975Thr) c.2905C>A (p.Pro969Thr)	gnomAD v4
22	g.50720759C>G	CA515260207	SHANK3	c.2527C>G (p.Pro843Ala) n.3111C>G c.1579C>G (p.Pro527Ala) c.1069C>G (p.Pro357Ala) c.1525C>G (n.1525C>G) c.2923C>G (p.Pro975Ala) c.2905C>G (p.Pro969Ala)
22	g.50720759C>T	CA515260208	SHANK3	c.2527C>T (p.Pro843Ser) n.3111C>T c.1579C>T (p.Pro527Ser) c.1069C>T (p.Pro357Ser) c.1525C>T (n.1525C>T) c.2923C>T (p.Pro975Ser) c.2905C>T (p.Pro969Ser)	ClinVar dbSNP gnomAD v4
22	g.50720761del	CA10603523	SHANK3	c.2529del (p.Gly844AlafsTer?) n.3113del c.1581del (p.Gly528AlafsTer?) c.1071del (p.Gly358AlafsTer?) c.1527del (n.1527del) c.2925del (p.Gly976AlafsTer?) c.2907del (p.Gly970AlafsTer?)	ClinVar dbSNP gnomAD v4
22	g.50720760C>A	CA515260209	SHANK3	c.2528C>A (p.Pro843His) n.3112C>A c.1580C>A (p.Pro527His) c.1070C>A (p.Pro357His) c.1526C>A (n.1526C>A) c.2924C>A (p.Pro975His) c.2906C>A (p.Pro969His)	gnomAD v4
22	g.50720760C=	CA2411007805	SHANK3	c.2528C= (p.Pro843=) n.3112C= c.1580C= (p.Pro527=) c.1070C= (p.Pro357=) c.1526C= (n.1526C=) c.2924C= (p.Pro975=) c.2906C= (p.Pro969=)
22	g.50720760C>G	CA515260210	SHANK3	c.2528C>G (p.Pro843Arg) n.3112C>G c.1580C>G (p.Pro527Arg) c.1070C>G (p.Pro357Arg) c.1526C>G (n.1526C>G) c.2924C>G (p.Pro975Arg) c.2906C>G (p.Pro969Arg)	gnomAD v4
22	g.50720760C>T	CA515260211	SHANK3	c.2528C>T (p.Pro843Leu) n.3112C>T c.1580C>T (p.Pro527Leu) c.1070C>T (p.Pro357Leu) c.1526C>T (n.1526C>T) c.2924C>T (p.Pro975Leu) c.2906C>T (p.Pro969Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720761C>A	CA515260212	SHANK3	c.2529C>A (p.Pro843=) n.3113C>A c.1581C>A (p.Pro527=) c.1071C>A (p.Pro357=) c.1527C>A (n.1527C>A) c.2925C>A (p.Pro975=) c.2907C>A (p.Pro969=)	ClinVar dbSNP gnomAD v4
22	g.50720761C=	CA2411007806	SHANK3	c.2529C= (p.Pro843=) n.3113C= c.1581C= (p.Pro527=) c.1071C= (p.Pro357=) c.1527C= (n.1527C=) c.2925C= (p.Pro975=) c.2907C= (p.Pro969=)
22	g.50720761C>G	CA515260213	SHANK3	c.2529C>G (p.Pro843=) n.3113C>G c.1581C>G (p.Pro527=) c.1071C>G (p.Pro357=) c.1527C>G (n.1527C>G) c.2925C>G (p.Pro975=) c.2907C>G (p.Pro969=)	gnomAD v4
22	g.50720761C>T	CA515260214	SHANK3	c.2529C>T (p.Pro843=) n.3113C>T c.1581C>T (p.Pro527=) c.1071C>T (p.Pro357=) c.1527C>T (n.1527C>T) c.2925C>T (p.Pro975=) c.2907C>T (p.Pro969=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720768_50720770dup	CA2577768680	SHANK3	c.2536_2538dup (p.Gly846_Ser847insGly) n.3120_3122dup c.1588_1590dup (p.Gly530_Ser531insGly) c.1078_1080dup (p.Gly360_Ser361insGly) c.1534_1536dup (n.1534_1536dup) c.2932_2934dup (p.Gly978_Ser979insGly) c.2914_2916dup (p.Gly972_Ser973insGly)	gnomAD v4
22	g.50720768_50720770del	CA640358968	SHANK3	c.2536_2538del (p.Gly846del) n.3120_3122del c.1588_1590del (p.Gly530del) c.1078_1080del (p.Gly360del) c.1534_1536del (n.1534_1536del) c.2932_2934del (p.Gly978del) c.2914_2916del (p.Gly972del)	gnomAD v2 gnomAD v4
22	g.50720762G>A	CA515260215	SHANK3	c.2530G>A (p.Gly844Ser) n.3114G>A c.1582G>A (p.Gly528Ser) c.1072G>A (p.Gly358Ser) c.1528G>A (n.1528G>A) c.2926G>A (p.Gly976Ser) c.2908G>A (p.Gly970Ser)	gnomAD v4
22	g.50720762G>C	CA515260216	SHANK3	c.2530G>C (p.Gly844Arg) n.3114G>C c.1582G>C (p.Gly528Arg) c.1072G>C (p.Gly358Arg) c.1528G>C (n.1528G>C) c.2926G>C (p.Gly976Arg) c.2908G>C (p.Gly970Arg)	gnomAD v4
22	g.50720762G>T	CA515260217	SHANK3	c.2530G>T (p.Gly844Cys) n.3114G>T c.1582G>T (p.Gly528Cys) c.1072G>T (p.Gly358Cys) c.1528G>T (n.1528G>T) c.2926G>T (p.Gly976Cys) c.2908G>T (p.Gly970Cys)	gnomAD v4
22	g.50720763G>A	CA515260218	SHANK3	c.2531G>A (p.Gly844Asp) n.3115G>A c.1583G>A (p.Gly528Asp) c.1073G>A (p.Gly358Asp) c.1529G>A (n.1529G>A) c.2927G>A (p.Gly976Asp) c.2909G>A (p.Gly970Asp)	gnomAD v4
22	g.50720763G>C	CA515260220	SHANK3	c.2531G>C (p.Gly844Ala) n.3115G>C c.1583G>C (p.Gly528Ala) c.1073G>C (p.Gly358Ala) c.1529G>C (n.1529G>C) c.2927G>C (p.Gly976Ala) c.2909G>C (p.Gly970Ala)	gnomAD v4
22	g.50720763G>T	CA515260219	SHANK3	c.2531G>T (p.Gly844Val) n.3115G>T c.1583G>T (p.Gly528Val) c.1073G>T (p.Gly358Val) c.1529G>T (n.1529G>T) c.2927G>T (p.Gly976Val) c.2909G>T (p.Gly970Val)	gnomAD v4
22	g.50720764del	CA2657583401	SHANK3	c.2532del (p.Gly845AlafsTer?) n.3116del c.1584del (p.Gly529AlafsTer?) c.1074del (p.Gly359AlafsTer?) c.1530del (n.1530del) c.2928del (p.Gly977AlafsTer?) c.2910del (p.Gly971AlafsTer?)	gnomAD v4
22	g.50720764C>A	CA515260221	SHANK3	c.2532C>A (p.Gly844=) n.3116C>A c.1584C>A (p.Gly528=) c.1074C>A (p.Gly358=) c.1530C>A (n.1530C>A) c.2928C>A (p.Gly976=) c.2910C>A (p.Gly970=)	gnomAD v4
22	g.50720764C=	CA2411007807	SHANK3	c.2532C= (p.Gly844=) n.3116C= c.1584C= (p.Gly528=) c.1074C= (p.Gly358=) c.1530C= (n.1530C=) c.2928C= (p.Gly976=) c.2910C= (p.Gly970=)
22	g.50720764C>G	CA515260222	SHANK3	c.2532C>G (p.Gly844=) n.3116C>G c.1584C>G (p.Gly528=) c.1074C>G (p.Gly358=) c.1530C>G (n.1530C>G) c.2928C>G (p.Gly976=) c.2910C>G (p.Gly970=)	gnomAD v4
22	g.50720764C>T	CA515260223	SHANK3	c.2532C>T (p.Gly844=) n.3116C>T c.1584C>T (p.Gly528=) c.1074C>T (p.Gly358=) c.1530C>T (n.1530C>T) c.2928C>T (p.Gly976=) c.2910C>T (p.Gly970=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720765G>A	CA515260224	SHANK3	c.2533G>A (p.Gly845Ser) n.3117G>A c.1585G>A (p.Gly529Ser) c.1075G>A (p.Gly359Ser) c.1531G>A (n.1531G>A) c.2929G>A (p.Gly977Ser) c.2911G>A (p.Gly971Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50720765G>C	CA515260225	SHANK3	c.2533G>C (p.Gly845Arg) n.3117G>C c.1585G>C (p.Gly529Arg) c.1075G>C (p.Gly359Arg) c.1531G>C (n.1531G>C) c.2929G>C (p.Gly977Arg) c.2911G>C (p.Gly971Arg)	gnomAD v4
22	g.50720765G=	CA2411007808	SHANK3	c.2533G= (p.Gly845=) n.3117G= c.1585G= (p.Gly529=) c.1075G= (p.Gly359=) c.1531G= (n.1531G=) c.2929G= (p.Gly977=) c.2911G= (p.Gly971=)
22	g.50720765G>T	CA515260226	SHANK3	c.2533G>T (p.Gly845Cys) n.3117G>T c.1585G>T (p.Gly529Cys) c.1075G>T (p.Gly359Cys) c.1531G>T (n.1531G>T) c.2929G>T (p.Gly977Cys) c.2911G>T (p.Gly971Cys)	gnomAD v4
22	g.50720766dup	CA2411007809	SHANK3	c.2534dup (p.Gly846ArgfsTer?) n.3118dup c.1586dup (p.Gly530ArgfsTer?) c.1076dup (p.Gly360ArgfsTer?) c.1532dup (n.1532dup) c.2930dup (p.Gly978ArgfsTer?) c.2912dup (p.Gly972ArgfsTer?)	dbSNP
22	g.50720766G>A	CA515260227	SHANK3	c.2534G>A (p.Gly845Asp) n.3118G>A c.1586G>A (p.Gly529Asp) c.1076G>A (p.Gly359Asp) c.1532G>A (n.1532G>A) c.2930G>A (p.Gly977Asp) c.2912G>A (p.Gly971Asp)	gnomAD v4
22	g.50720766G>C	CA515260228	SHANK3	c.2534G>C (p.Gly845Ala) n.3118G>C c.1586G>C (p.Gly529Ala) c.1076G>C (p.Gly359Ala) c.1532G>C (n.1532G>C) c.2930G>C (p.Gly977Ala) c.2912G>C (p.Gly971Ala)
22	g.50720766G>T	CA515260229	SHANK3	c.2534G>T (p.Gly845Val) n.3118G>T c.1586G>T (p.Gly529Val) c.1076G>T (p.Gly359Val) c.1532G>T (n.1532G>T) c.2930G>T (p.Gly977Val) c.2912G>T (p.Gly971Val)	gnomAD v4
22	g.50720767del	CA2657583402	SHANK3	c.2535del (p.Gly846AlafsTer?) n.3119del c.1587del (p.Gly530AlafsTer?) c.1077del (p.Gly360AlafsTer?) c.1533del (n.1533del) c.2931del (p.Gly978AlafsTer?) c.2913del (p.Gly972AlafsTer?)	gnomAD v4
22	g.50720767C>A	CA515260230	SHANK3	c.2535C>A (p.Gly845=) n.3119C>A c.1587C>A (p.Gly529=) c.1077C>A (p.Gly359=) c.1533C>A (n.1533C>A) c.2931C>A (p.Gly977=) c.2913C>A (p.Gly971=)	gnomAD v4
22	g.50720767C=	CA2411007810	SHANK3	c.2535C= (p.Gly845=) n.3119C= c.1587C= (p.Gly529=) c.1077C= (p.Gly359=) c.1533C= (n.1533C=) c.2931C= (p.Gly977=) c.2913C= (p.Gly971=)
22	g.50720767C>G	CA515260231	SHANK3	c.2535C>G (p.Gly845=) n.3119C>G c.1587C>G (p.Gly529=) c.1077C>G (p.Gly359=) c.1533C>G (n.1533C>G) c.2931C>G (p.Gly977=) c.2913C>G (p.Gly971=)	dbSNP
22	g.50720767C>T	CA515260232	SHANK3	c.2535C>T (p.Gly845=) n.3119C>T c.1587C>T (p.Gly529=) c.1077C>T (p.Gly359=) c.1533C>T (n.1533C>T) c.2931C>T (p.Gly977=) c.2913C>T (p.Gly971=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720767_50720787delinsGGCAG	CA2580099958	SHANK3	c.2535_2555delinsGGCAG (p.Gly846AlafsTer?) n.3119_3139delinsGGCAG c.1587_1607delinsGGCAG (p.Gly530AlafsTer?) c.1077_1097delinsGGCAG (p.Gly360AlafsTer?) c.1533_1553delinsGGCAG (n.1533_1553delinsGGCAG) c.2931_2951delinsGGCAG (p.Gly978AlafsTer?) c.2913_2933delinsGGCAG (p.Gly972AlafsTer?)	ClinVar dbSNP
22	g.50720768G>A	CA515260236	SHANK3	c.2536G>A (p.Gly846Ser) n.3120G>A c.1588G>A (p.Gly530Ser) c.1078G>A (p.Gly360Ser) c.1534G>A (n.1534G>A) c.2932G>A (p.Gly978Ser) c.2914G>A (p.Gly972Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720768G>C	CA515260235	SHANK3	c.2536G>C (p.Gly846Arg) n.3120G>C c.1588G>C (p.Gly530Arg) c.1078G>C (p.Gly360Arg) c.1534G>C (n.1534G>C) c.2932G>C (p.Gly978Arg) c.2914G>C (p.Gly972Arg)	gnomAD v4
22	g.50720768G=	CA2411007812	SHANK3	c.2536G= (p.Gly846=) n.3120G= c.1588G= (p.Gly530=) c.1078G= (p.Gly360=) c.1534G= (n.1534G=) c.2932G= (p.Gly978=) c.2914G= (p.Gly972=)
22	g.50720768G>T	CA515260233	SHANK3	c.2536G>T (p.Gly846Cys) n.3120G>T c.1588G>T (p.Gly530Cys) c.1078G>T (p.Gly360Cys) c.1534G>T (n.1534G>T) c.2932G>T (p.Gly978Cys) c.2914G>T (p.Gly972Cys)	gnomAD v4
22	g.50720768_50720771delinsGGCA	CA2411007811	SHANK3	c.2536_2539delinsGGCA (p.Gly846=) n.3120_3123delinsGGCA c.1588_1591delinsGGCA (p.Gly530=) c.1078_1081delinsGGCA (p.Gly360=) c.1534_1537delinsGGCA (n.1534_1537delinsGGCA) c.2932_2935delinsGGCA (p.Gly978=) c.2914_2917delinsGGCA (p.Gly972=)
22	g.50720769G>A	CA515260237	SHANK3	c.2537G>A (p.Gly846Asp) n.3121G>A c.1589G>A (p.Gly530Asp) c.1079G>A (p.Gly360Asp) c.1535G>A (n.1535G>A) c.2933G>A (p.Gly978Asp) c.2915G>A (p.Gly972Asp)	dbSNP gnomAD v2 gnomAD v4
22	g.50720769G>C	CA515260238	SHANK3	c.2537G>C (p.Gly846Ala) n.3121G>C c.1589G>C (p.Gly530Ala) c.1079G>C (p.Gly360Ala) c.1535G>C (n.1535G>C) c.2933G>C (p.Gly978Ala) c.2915G>C (p.Gly972Ala)	gnomAD v4
22	g.50720769G=	CA2411007813	SHANK3	c.2537G= (p.Gly846=) n.3121G= c.1589G= (p.Gly530=) c.1079G= (p.Gly360=) c.1535G= (n.1535G=) c.2933G= (p.Gly978=) c.2915G= (p.Gly972=)
22	g.50720769G>T	CA515260239	SHANK3	c.2537G>T (p.Gly846Val) n.3121G>T c.1589G>T (p.Gly530Val) c.1079G>T (p.Gly360Val) c.1535G>T (n.1535G>T) c.2933G>T (p.Gly978Val) c.2915G>T (p.Gly972Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50720769_50720773delinsGCAGC	CA2411007814	SHANK3	c.2537_2541delinsGCAGC (p.Gly846=) n.3121_3125delinsGCAGC c.1589_1593delinsGCAGC (p.Gly530=) c.1079_1083delinsGCAGC (p.Gly360=) c.1535_1539delinsGCAGC (n.1535_1539delinsGCAGC) c.2933_2937delinsGCAGC (p.Gly978=) c.2915_2919delinsGCAGC (p.Gly972=)
22	g.50720771_50720773dup	CA2657583403	SHANK3	c.2539_2541dup (p.Ser847_Phe848insSer) n.3123_3125dup c.1591_1593dup (p.Ser531_Phe532insSer) c.1081_1083dup (p.Ser361_Phe362insSer) c.1537_1539dup (n.1537_1539dup) c.2935_2937dup (p.Ser979_Phe980insSer) c.2917_2919dup (p.Ser973_Phe974insSer)	gnomAD v4
22	g.50720771_50720773del	CA754092984	SHANK3	c.2539_2541del (p.Ser847del) n.3123_3125del c.1591_1593del (p.Ser531del) c.1081_1083del (p.Ser361del) c.1537_1539del (n.1537_1539del) c.2935_2937del (p.Ser979del) c.2917_2919del (p.Ser973del)	dbSNP gnomAD v3 gnomAD v4
22	g.50720770C>A	CA515260240	SHANK3	c.2538C>A (p.Gly846=) n.3122C>A c.1590C>A (p.Gly530=) c.1080C>A (p.Gly360=) c.1536C>A (n.1536C>A) c.2934C>A (p.Gly978=) c.2916C>A (p.Gly972=)	gnomAD v4
22	g.50720770C=	CA2411007815	SHANK3	c.2538C= (p.Gly846=) n.3122C= c.1590C= (p.Gly530=) c.1080C= (p.Gly360=) c.1536C= (n.1536C=) c.2934C= (p.Gly978=) c.2916C= (p.Gly972=)
22	g.50720770C>G	CA515260241	SHANK3	c.2538C>G (p.Gly846=) n.3122C>G c.1590C>G (p.Gly530=) c.1080C>G (p.Gly360=) c.1536C>G (n.1536C>G) c.2934C>G (p.Gly978=) c.2916C>G (p.Gly972=)	gnomAD v4
22	g.50720770C>T	CA515260242	SHANK3	c.2538C>T (p.Gly846=) n.3122C>T c.1590C>T (p.Gly530=) c.1080C>T (p.Gly360=) c.1536C>T (n.1536C>T) c.2934C>T (p.Gly978=) c.2916C>T (p.Gly972=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720770_50720773del	CA1139667200	SHANK3	c.2538_2541del (p.Phe848ProfsTer?) n.3122_3125del c.1590_1593del (p.Phe532ProfsTer?) c.1080_1083del (p.Phe362ProfsTer?) c.1536_1539del (n.1536_1539del) c.2934_2937del (p.Phe980ProfsTer?) c.2916_2919del (p.Phe974ProfsTer?)	ClinVar dbSNP
22	g.50720771A=	CA2411007816	SHANK3	c.2539A= (p.Ser847=) n.3123A= c.1591A= (p.Ser531=) c.1081A= (p.Ser361=) c.1537A= (n.1537A=) c.2935A= (p.Ser979=) c.2917A= (p.Ser973=)
22	g.50720771A>C	CA515260243	SHANK3	c.2539A>C (p.Ser847Arg) n.3123A>C c.1591A>C (p.Ser531Arg) c.1081A>C (p.Ser361Arg) c.1537A>C (n.1537A>C) c.2935A>C (p.Ser979Arg) c.2917A>C (p.Ser973Arg)	gnomAD v4
22	g.50720771A>G	CA10325940	SHANK3	c.2539A>G (p.Ser847Gly) n.3123A>G c.1591A>G (p.Ser531Gly) c.1081A>G (p.Ser361Gly) c.1537A>G (n.1537A>G) c.2935A>G (p.Ser979Gly) c.2917A>G (p.Ser973Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720771A>T	CA515260245	SHANK3	c.2539A>T (p.Ser847Cys) n.3123A>T c.1591A>T (p.Ser531Cys) c.1081A>T (p.Ser361Cys) c.1537A>T (n.1537A>T) c.2935A>T (p.Ser979Cys) c.2917A>T (p.Ser973Cys)
22	g.50720772G>A	CA515260246	SHANK3	c.2540G>A (p.Ser847Asn) n.3124G>A c.1592G>A (p.Ser531Asn) c.1082G>A (p.Ser361Asn) c.1538G>A (n.1538G>A) c.2936G>A (p.Ser979Asn) c.2918G>A (p.Ser973Asn)	gnomAD v4
22	g.50720772G>C	CA515260247	SHANK3	c.2540G>C (p.Ser847Thr) n.3124G>C c.1592G>C (p.Ser531Thr) c.1082G>C (p.Ser361Thr) c.1538G>C (n.1538G>C) c.2936G>C (p.Ser979Thr) c.2918G>C (p.Ser973Thr)	gnomAD v4
22	g.50720772G>T	CA515260248	SHANK3	c.2540G>T (p.Ser847Ile) n.3124G>T c.1592G>T (p.Ser531Ile) c.1082G>T (p.Ser361Ile) c.1538G>T (n.1538G>T) c.2936G>T (p.Ser979Ile) c.2918G>T (p.Ser973Ile)	gnomAD v4
22	g.50720773C>A	CA515260251	SHANK3	c.2541C>A (p.Ser847Arg) n.3125C>A c.1593C>A (p.Ser531Arg) c.1083C>A (p.Ser361Arg) c.1539C>A (n.1539C>A) c.2937C>A (p.Ser979Arg) c.2919C>A (p.Ser973Arg)	gnomAD v4
22	g.50720773C=	CA2411007817	SHANK3	c.2541C= (p.Ser847=) n.3125C= c.1593C= (p.Ser531=) c.1083C= (p.Ser361=) c.1539C= (n.1539C=) c.2937C= (p.Ser979=) c.2919C= (p.Ser973=)
22	g.50720773C>G	CA515260250	SHANK3	c.2541C>G (p.Ser847Arg) n.3125C>G c.1593C>G (p.Ser531Arg) c.1083C>G (p.Ser361Arg) c.1539C>G (n.1539C>G) c.2937C>G (p.Ser979Arg) c.2919C>G (p.Ser973Arg)	gnomAD v4
22	g.50720773C>T	CA515260249	SHANK3	c.2541C>T (p.Ser847=) n.3125C>T c.1593C>T (p.Ser531=) c.1083C>T (p.Ser361=) c.1539C>T (n.1539C>T) c.2937C>T (p.Ser979=) c.2919C>T (p.Ser973=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720774T>A	CA515260252	SHANK3	c.2542T>A (p.Phe848Ile) n.3126T>A c.1594T>A (p.Phe532Ile) c.1084T>A (p.Phe362Ile) c.1540T>A (n.1540T>A) c.2938T>A (p.Phe980Ile) c.2920T>A (p.Phe974Ile)	gnomAD v4
22	g.50720774T>C	CA515260253	SHANK3	c.2542T>C (p.Phe848Leu) n.3126T>C c.1594T>C (p.Phe532Leu) c.1084T>C (p.Phe362Leu) c.1540T>C (n.1540T>C) c.2938T>C (p.Phe980Leu) c.2920T>C (p.Phe974Leu)	gnomAD v4
22	g.50720774T>G	CA515260254	SHANK3	c.2542T>G (p.Phe848Val) n.3126T>G c.1594T>G (p.Phe532Val) c.1084T>G (p.Phe362Val) c.1540T>G (n.1540T>G) c.2938T>G (p.Phe980Val) c.2920T>G (p.Phe974Val)
22	g.50720775T>A	CA515260255	SHANK3	c.2543T>A (p.Phe848Tyr) n.3127T>A c.1595T>A (p.Phe532Tyr) c.1085T>A (p.Phe362Tyr) c.1541T>A (n.1541T>A) c.2939T>A (p.Phe980Tyr) c.2921T>A (p.Phe974Tyr)
22	g.50720775T>C	CA515260256	SHANK3	c.2543T>C (p.Phe848Ser) n.3127T>C c.1595T>C (p.Phe532Ser) c.1085T>C (p.Phe362Ser) c.1541T>C (n.1541T>C) c.2939T>C (p.Phe980Ser) c.2921T>C (p.Phe974Ser)	gnomAD v4
22	g.50720775T>G	CA515260257	SHANK3	c.2543T>G (p.Phe848Cys) n.3127T>G c.1595T>G (p.Phe532Cys) c.1085T>G (p.Phe362Cys) c.1541T>G (n.1541T>G) c.2939T>G (p.Phe980Cys) c.2921T>G (p.Phe974Cys)
22	g.50720776C>A	CA515260260	SHANK3	c.2544C>A (p.Phe848Leu) n.3128C>A c.1596C>A (p.Phe532Leu) c.1086C>A (p.Phe362Leu) c.1542C>A (n.1542C>A) c.2940C>A (p.Phe980Leu) c.2922C>A (p.Phe974Leu)	gnomAD v4
22	g.50720776C=	CA2411007818	SHANK3	c.2544C= (p.Phe848=) n.3128C= c.1596C= (p.Phe532=) c.1086C= (p.Phe362=) c.1542C= (n.1542C=) c.2940C= (p.Phe980=) c.2922C= (p.Phe974=)
22	g.50720776C>G	CA515260259	SHANK3	c.2544C>G (p.Phe848Leu) n.3128C>G c.1596C>G (p.Phe532Leu) c.1086C>G (p.Phe362Leu) c.1542C>G (n.1542C>G) c.2940C>G (p.Phe980Leu) c.2922C>G (p.Phe974Leu)	gnomAD v4
22	g.50720776C>T	CA515260258	SHANK3	c.2544C>T (p.Phe848=) n.3128C>T c.1596C>T (p.Phe532=) c.1086C>T (p.Phe362=) c.1542C>T (n.1542C>T) c.2940C>T (p.Phe980=) c.2922C>T (p.Phe974=)	dbSNP gnomAD v4
22	g.50720779_50720782del	CA891842416	SHANK3	c.2547_2550del (p.Arg850SerfsTer?) n.3131_3134del c.1599_1602del (p.Arg534SerfsTer?) c.1089_1092del (p.Arg364SerfsTer?) c.1545_1548del (n.1545_1548del) c.2943_2946del (p.Arg982SerfsTer?) c.2925_2928del (p.Arg976SerfsTer?)
22	g.50720782_50720815del	CA2819316027	SHANK3	c.2550_2583del (p.Glu851ValfsTer?) n.3134_3167del c.1602_1635del (p.Glu535ValfsTer?) c.1092_1125del (p.Glu365ValfsTer?) c.1548_1581del (n.1548_1581del) c.2946_2979del (p.Glu983ValfsTer?) c.2928_2961del (p.Glu977ValfsTer?)
22	g.50720777G>A	CA515260261	SHANK3	c.2545G>A (p.Ala849Thr) n.3129G>A c.1597G>A (p.Ala533Thr) c.1087G>A (p.Ala363Thr) c.1543G>A (n.1543G>A) c.2941G>A (p.Ala981Thr) c.2923G>A (p.Ala975Thr)	dbSNP gnomAD v3 gnomAD v4
22	g.50720777G>C	CA515260262	SHANK3	c.2545G>C (p.Ala849Pro) n.3129G>C c.1597G>C (p.Ala533Pro) c.1087G>C (p.Ala363Pro) c.1543G>C (n.1543G>C) c.2941G>C (p.Ala981Pro) c.2923G>C (p.Ala975Pro)	gnomAD v4
22	g.50720777G=	CA2411007819	SHANK3	c.2545G= (p.Ala849=) n.3129G= c.1597G= (p.Ala533=) c.1087G= (p.Ala363=) c.1543G= (n.1543G=) c.2941G= (p.Ala981=) c.2923G= (p.Ala975=)
22	g.50720777G>T	CA515260263	SHANK3	c.2545G>T (p.Ala849Ser) n.3129G>T c.1597G>T (p.Ala533Ser) c.1087G>T (p.Ala363Ser) c.1543G>T (n.1543G>T) c.2941G>T (p.Ala981Ser) c.2923G>T (p.Ala975Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50720778C>A	CA515260264	SHANK3	c.2546C>A (p.Ala849Asp) n.3130C>A c.1598C>A (p.Ala533Asp) c.1088C>A (p.Ala363Asp) c.1544C>A (n.1544C>A) c.2942C>A (p.Ala981Asp) c.2924C>A (p.Ala975Asp)	gnomAD v3 gnomAD v4
22	g.50720778C=	CA2411007820	SHANK3	c.2546C= (p.Ala849=) n.3130C= c.1598C= (p.Ala533=) c.1088C= (p.Ala363=) c.1544C= (n.1544C=) c.2942C= (p.Ala981=) c.2924C= (p.Ala975=)
22	g.50720778C>G	CA515260265	SHANK3	c.2546C>G (p.Ala849Gly) n.3130C>G c.1598C>G (p.Ala533Gly) c.1088C>G (p.Ala363Gly) c.1544C>G (n.1544C>G) c.2942C>G (p.Ala981Gly) c.2924C>G (p.Ala975Gly)	gnomAD v4
22	g.50720778C>T	CA10325941	SHANK3	c.2546C>T (p.Ala849Val) n.3130C>T c.1598C>T (p.Ala533Val) c.1088C>T (p.Ala363Val) c.1544C>T (n.1544C>T) c.2942C>T (p.Ala981Val) c.2924C>T (p.Ala975Val)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720780del	CA2657583404	SHANK3	c.2548del (p.Arg850AlafsTer?) n.3132del c.1600del (p.Arg534AlafsTer?) c.1090del (p.Arg364AlafsTer?) c.1546del (n.1546del) c.2944del (p.Arg982AlafsTer?) c.2926del (p.Arg976AlafsTer?)	gnomAD v4
22	g.50720779C>A	CA515260266	SHANK3	c.2547C>A (p.Ala849=) n.3131C>A c.1599C>A (p.Ala533=) c.1089C>A (p.Ala363=) c.1545C>A (n.1545C>A) c.2943C>A (p.Ala981=) c.2925C>A (p.Ala975=)	gnomAD v4
22	g.50720779C=	CA2411007821	SHANK3	c.2547C= (p.Ala849=) n.3131C= c.1599C= (p.Ala533=) c.1089C= (p.Ala363=) c.1545C= (n.1545C=) c.2943C= (p.Ala981=) c.2925C= (p.Ala975=)
22	g.50720779C>G	CA515260267	SHANK3	c.2547C>G (p.Ala849=) n.3131C>G c.1599C>G (p.Ala533=) c.1089C>G (p.Ala363=) c.1545C>G (n.1545C>G) c.2943C>G (p.Ala981=) c.2925C>G (p.Ala975=)	gnomAD v4
22	g.50720779C>T	CA10325942	SHANK3	c.2547C>T (p.Ala849=) n.3131C>T c.1599C>T (p.Ala533=) c.1089C>T (p.Ala363=) c.1545C>T (n.1545C>T) c.2943C>T (p.Ala981=) c.2925C>T (p.Ala975=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720784_50720804dup	CA2657583405	SHANK3	c.2552_2572dup (p.Arg857_Gly858insGluProSerProThrHisArg) n.3136_3156dup c.1604_1624dup (p.Arg541_Gly542insGluProSerProThrHisArg) c.1094_1114dup (p.Arg371_Gly372insGluProSerProThrHisArg) c.1550_1570dup (n.1550_1570dup) c.2948_2968dup (p.Arg989_Gly990insGluProSerProThrHisArg) c.2930_2950dup (p.Arg983_Gly984insGluProSerProThrHisArg)	gnomAD v4
22	g.50720780C>A	CA515260268	SHANK3	c.2548C>A (p.Arg850Ser) n.3132C>A c.1600C>A (p.Arg534Ser) c.1090C>A (p.Arg364Ser) c.1546C>A (n.1546C>A) c.2944C>A (p.Arg982Ser) c.2926C>A (p.Arg976Ser)	gnomAD v3 gnomAD v4
22	g.50720780C>G	CA515260269	SHANK3	c.2548C>G (p.Arg850Gly) n.3132C>G c.1600C>G (p.Arg534Gly) c.1090C>G (p.Arg364Gly) c.1546C>G (n.1546C>G) c.2944C>G (p.Arg982Gly) c.2926C>G (p.Arg976Gly)	gnomAD v4
22	g.50720780C>T	CA515260270	SHANK3	c.2548C>T (p.Arg850Cys) n.3132C>T c.1600C>T (p.Arg534Cys) c.1090C>T (p.Arg364Cys) c.1546C>T (n.1546C>T) c.2944C>T (p.Arg982Cys) c.2926C>T (p.Arg976Cys)	gnomAD v4
22	g.50720781del	CA2657583406	SHANK3	c.2549del (p.Arg850ProfsTer?) n.3133del c.1601del (p.Arg534ProfsTer?) c.1091del (p.Arg364ProfsTer?) c.1547del (n.1547del) c.2945del (p.Arg982ProfsTer?) c.2927del (p.Arg976ProfsTer?)	gnomAD v4
22	g.50720781G>A	CA515260271	SHANK3	c.2549G>A (p.Arg850His) n.3133G>A c.1601G>A (p.Arg534His) c.1091G>A (p.Arg364His) c.1547G>A (n.1547G>A) c.2945G>A (p.Arg982His) c.2927G>A (p.Arg976His)	dbSNP gnomAD v4
22	g.50720781G>C	CA325578280	SHANK3	c.2549G>C (p.Arg850Pro) n.3133G>C c.1601G>C (p.Arg534Pro) c.1091G>C (p.Arg364Pro) c.1547G>C (n.1547G>C) c.2945G>C (p.Arg982Pro) c.2927G>C (p.Arg976Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720781G=	CA2411007822	SHANK3	c.2549G= (p.Arg850=) n.3133G= c.1601G= (p.Arg534=) c.1091G= (p.Arg364=) c.1547G= (n.1547G=) c.2945G= (p.Arg982=) c.2927G= (p.Arg976=)
22	g.50720781G>T	CA515260272	SHANK3	c.2549G>T (p.Arg850Leu) n.3133G>T c.1601G>T (p.Arg534Leu) c.1091G>T (p.Arg364Leu) c.1547G>T (n.1547G>T) c.2945G>T (p.Arg982Leu) c.2927G>T (p.Arg976Leu)	gnomAD v4
22	g.50720782C>A	CA515260273	SHANK3	c.2550C>A (p.Arg850=) n.3134C>A c.1602C>A (p.Arg534=) c.1092C>A (p.Arg364=) c.1548C>A (n.1548C>A) c.2946C>A (p.Arg982=) c.2928C>A (p.Arg976=)	dbSNP gnomAD v4
22	g.50720782C=	CA2411007823	SHANK3	c.2550C= (p.Arg850=) n.3134C= c.1602C= (p.Arg534=) c.1092C= (p.Arg364=) c.1548C= (n.1548C=) c.2946C= (p.Arg982=) c.2928C= (p.Arg976=)
22	g.50720782C>G	CA515260274	SHANK3	c.2550C>G (p.Arg850=) n.3134C>G c.1602C>G (p.Arg534=) c.1092C>G (p.Arg364=) c.1548C>G (n.1548C>G) c.2946C>G (p.Arg982=) c.2928C>G (p.Arg976=)	gnomAD v4
22	g.50720782C>T	CA515260275	SHANK3	c.2550C>T (p.Arg850=) n.3134C>T c.1602C>T (p.Arg534=) c.1092C>T (p.Arg364=) c.1548C>T (n.1548C>T) c.2946C>T (p.Arg982=) c.2928C>T (p.Arg976=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720783G>A	CA515260276	SHANK3	c.2551G>A (p.Glu851Lys) n.3135G>A c.1603G>A (p.Glu535Lys) c.1093G>A (p.Glu365Lys) c.1549G>A (n.1549G>A) c.2947G>A (p.Glu983Lys) c.2929G>A (p.Glu977Lys)	dbSNP gnomAD v4
22	g.50720783G>C	CA515260277	SHANK3	c.2551G>C (p.Glu851Gln) n.3135G>C c.1603G>C (p.Glu535Gln) c.1093G>C (p.Glu365Gln) c.1549G>C (n.1549G>C) c.2947G>C (p.Glu983Gln) c.2929G>C (p.Glu977Gln)	gnomAD v4
22	g.50720783G=	CA2411007824	SHANK3	c.2551G= (p.Glu851=) n.3135G= c.1603G= (p.Glu535=) c.1093G= (p.Glu365=) c.1549G= (n.1549G=) c.2947G= (p.Glu983=) c.2929G= (p.Glu977=)
22	g.50720783G>T	CA515260278	SHANK3	c.2551G>T (p.Glu851Ter) n.3135G>T c.1603G>T (p.Glu535Ter) c.1093G>T (p.Glu365Ter) c.1549G>T (n.1549G>T) c.2947G>T (p.Glu983Ter) c.2929G>T (p.Glu977Ter)	ClinVar dbSNP gnomAD v4
22	g.50720784A>C	CA515260279	SHANK3	c.2552A>C (p.Glu851Ala) n.3136A>C c.1604A>C (p.Glu535Ala) c.1094A>C (p.Glu365Ala) c.1550A>C (n.1550A>C) c.2948A>C (p.Glu983Ala) c.2930A>C (p.Glu977Ala)
22	g.50720784A>G	CA515260281	SHANK3	c.2552A>G (p.Glu851Gly) n.3136A>G c.1604A>G (p.Glu535Gly) c.1094A>G (p.Glu365Gly) c.1550A>G (n.1550A>G) c.2948A>G (p.Glu983Gly) c.2930A>G (p.Glu977Gly)	gnomAD v4
22	g.50720784A>T	CA515260280	SHANK3	c.2552A>T (p.Glu851Val) n.3136A>T c.1604A>T (p.Glu535Val) c.1094A>T (p.Glu365Val) c.1550A>T (n.1550A>T) c.2948A>T (p.Glu983Val) c.2930A>T (p.Glu977Val)
22	g.50720785G>A	CA515260282	SHANK3	c.2553G>A (p.Glu851=) n.3137G>A c.1605G>A (p.Glu535=) c.1095G>A (p.Glu365=) c.1551G>A (n.1551G>A) c.2949G>A (p.Glu983=) c.2931G>A (p.Glu977=)	gnomAD v4
22	g.50720785G>C	CA515260283	SHANK3	c.2553G>C (p.Glu851Asp) n.3137G>C c.1605G>C (p.Glu535Asp) c.1095G>C (p.Glu365Asp) c.1551G>C (n.1551G>C) c.2949G>C (p.Glu983Asp) c.2931G>C (p.Glu977Asp)	gnomAD v4
22	g.50720785G>T	CA515260284	SHANK3	c.2553G>T (p.Glu851Asp) n.3137G>T c.1605G>T (p.Glu535Asp) c.1095G>T (p.Glu365Asp) c.1551G>T (n.1551G>T) c.2949G>T (p.Glu983Asp) c.2931G>T (p.Glu977Asp)	gnomAD v4
22	g.50720786C>A	CA515260285	SHANK3	c.2554C>A (p.Pro852Thr) n.3138C>A c.1606C>A (p.Pro536Thr) c.1096C>A (p.Pro366Thr) c.1552C>A (n.1552C>A) c.2950C>A (p.Pro984Thr) c.2932C>A (p.Pro978Thr)	dbSNP gnomAD v4
22	g.50720786C=	CA2411007825	SHANK3	c.2554C= (p.Pro852=) n.3138C= c.1606C= (p.Pro536=) c.1096C= (p.Pro366=) c.1552C= (n.1552C=) c.2950C= (p.Pro984=) c.2932C= (p.Pro978=)
22	g.50720786C>G	CA515260286	SHANK3	c.2554C>G (p.Pro852Ala) n.3138C>G c.1606C>G (p.Pro536Ala) c.1096C>G (p.Pro366Ala) c.1552C>G (n.1552C>G) c.2950C>G (p.Pro984Ala) c.2932C>G (p.Pro978Ala)	gnomAD v4
22	g.50720786C>T	CA515260287	SHANK3	c.2554C>T (p.Pro852Ser) n.3138C>T c.1606C>T (p.Pro536Ser) c.1096C>T (p.Pro366Ser) c.1552C>T (n.1552C>T) c.2950C>T (p.Pro984Ser) c.2932C>T (p.Pro978Ser)	gnomAD v4
22	g.50720788dup	CA2657583407	SHANK3	c.2556dup (p.Ser853LeufsTer?) n.3140dup c.1608dup (p.Ser537LeufsTer?) c.1098dup (p.Ser367LeufsTer?) c.1554dup (n.1554dup) c.2952dup (p.Ser985LeufsTer?) c.2934dup (p.Ser979LeufsTer?)	gnomAD v4
22	g.50720788del	CA2657583408	SHANK3	c.2556del (p.Ser853ProfsTer?) n.3140del c.1608del (p.Ser537ProfsTer?) c.1098del (p.Ser367ProfsTer?) c.1554del (n.1554del) c.2952del (p.Ser985ProfsTer?) c.2934del (p.Ser979ProfsTer?)	gnomAD v4
22	g.50720787C>A	CA515260288	SHANK3	c.2555C>A (p.Pro852His) n.3139C>A c.1607C>A (p.Pro536His) c.1097C>A (p.Pro366His) c.1553C>A (n.1553C>A) c.2951C>A (p.Pro984His) c.2933C>A (p.Pro978His)	gnomAD v4
22	g.50720787C>G	CA515260289	SHANK3	c.2555C>G (p.Pro852Arg) n.3139C>G c.1607C>G (p.Pro536Arg) c.1097C>G (p.Pro366Arg) c.1553C>G (n.1553C>G) c.2951C>G (p.Pro984Arg) c.2933C>G (p.Pro978Arg)
22	g.50720787C>T	CA515260290	SHANK3	c.2555C>T (p.Pro852Leu) n.3139C>T c.1607C>T (p.Pro536Leu) c.1097C>T (p.Pro366Leu) c.1553C>T (n.1553C>T) c.2951C>T (p.Pro984Leu) c.2933C>T (p.Pro978Leu)	gnomAD v4
22	g.50720788C>A	CA515260291	SHANK3	c.2556C>A (p.Pro852=) n.3140C>A c.1608C>A (p.Pro536=) c.1098C>A (p.Pro366=) c.1554C>A (n.1554C>A) c.2952C>A (p.Pro984=) c.2934C>A (p.Pro978=)	gnomAD v4
22	g.50720788C=	CA2411007826	SHANK3	c.2556C= (p.Pro852=) n.3140C= c.1608C= (p.Pro536=) c.1098C= (p.Pro366=) c.1554C= (n.1554C=) c.2952C= (p.Pro984=) c.2934C= (p.Pro978=)
22	g.50720788C>G	CA515260292	SHANK3	c.2556C>G (p.Pro852=) n.3140C>G c.1608C>G (p.Pro536=) c.1098C>G (p.Pro366=) c.1554C>G (n.1554C>G) c.2952C>G (p.Pro984=) c.2934C>G (p.Pro978=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720788C>T	CA325578299	SHANK3	c.2556C>T (p.Pro852=) n.3140C>T c.1608C>T (p.Pro536=) c.1098C>T (p.Pro366=) c.1554C>T (n.1554C>T) c.2952C>T (p.Pro984=) c.2934C>T (p.Pro978=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720795_50720796insGCTCTCCCCGA	CA2580099961	SHANK3	c.2563_2564insGCTCTCCCCGA (p.Thr855SerfsTer?) n.3147_3148insGCTCTCCCCGA c.1615_1616insGCTCTCCCCGA (p.Thr539SerfsTer?) c.1105_1106insGCTCTCCCCGA (p.Thr369SerfsTer?) c.1561_1562insGCTCTCCCCGA (n.1561_1562insGCTCTCCCCGA) c.2959_2960insGCTCTCCCCGA (p.Thr987SerfsTer?) c.2941_2942insGCTCTCCCCGA (p.Thr981SerfsTer?)	ClinVar
22	g.50720789del	CA2657583409	SHANK3	c.2557del (p.Ser853ProfsTer?) n.3141del c.1609del (p.Ser537ProfsTer?) c.1099del (p.Ser367ProfsTer?) c.1555del (n.1555del) c.2953del (p.Ser985ProfsTer?) c.2935del (p.Ser979ProfsTer?)	gnomAD v4
22	g.50720789T>A	CA515260295	SHANK3	c.2557T>A (p.Ser853Thr) n.3141T>A c.1609T>A (p.Ser537Thr) c.1099T>A (p.Ser367Thr) c.1555T>A (n.1555T>A) c.2953T>A (p.Ser985Thr) c.2935T>A (p.Ser979Thr)
22	g.50720789T>C	CA515260294	SHANK3	c.2557T>C (p.Ser853Pro) n.3141T>C c.1609T>C (p.Ser537Pro) c.1099T>C (p.Ser367Pro) c.1555T>C (n.1555T>C) c.2953T>C (p.Ser985Pro) c.2935T>C (p.Ser979Pro)	gnomAD v4
22	g.50720789T>G	CA515260293	SHANK3	c.2557T>G (p.Ser853Ala) n.3141T>G c.1609T>G (p.Ser537Ala) c.1099T>G (p.Ser367Ala) c.1555T>G (n.1555T>G) c.2953T>G (p.Ser985Ala) c.2935T>G (p.Ser979Ala)
22	g.50720789_50720790delinsTC	CA2411007827	SHANK3	c.2557_2558delinsTC (p.Ser853=) n.3141_3142delinsTC c.1609_1610delinsTC (p.Ser537=) c.1099_1100delinsTC (p.Ser367=) c.1555_1556delinsTC (n.1555_1556delinsTC) c.2953_2954delinsTC (p.Ser985=) c.2935_2936delinsTC (p.Ser979=)
22	g.50720790C>A	CA515260296	SHANK3	c.2558C>A (p.Ser853Tyr) n.3142C>A c.1610C>A (p.Ser537Tyr) c.1100C>A (p.Ser367Tyr) c.1556C>A (n.1556C>A) c.2954C>A (p.Ser985Tyr) c.2936C>A (p.Ser979Tyr)	gnomAD v4
22	g.50720790C>G	CA515260297	SHANK3	c.2558C>G (p.Ser853Cys) n.3142C>G c.1610C>G (p.Ser537Cys) c.1100C>G (p.Ser367Cys) c.1556C>G (n.1556C>G) c.2954C>G (p.Ser985Cys) c.2936C>G (p.Ser979Cys)	gnomAD v4
22	g.50720790C>T	CA515260298	SHANK3	c.2558C>T (p.Ser853Phe) n.3142C>T c.1610C>T (p.Ser537Phe) c.1100C>T (p.Ser367Phe) c.1556C>T (n.1556C>T) c.2954C>T (p.Ser985Phe) c.2936C>T (p.Ser979Phe)	gnomAD v4
22	g.50720793del	CA640358969	SHANK3	c.2561del (p.Pro854ArgfsTer?) n.3145del c.1613del (p.Pro538ArgfsTer?) c.1103del (p.Pro368ArgfsTer?) c.1559del (n.1559del) c.2957del (p.Pro986ArgfsTer?) c.2939del (p.Pro980ArgfsTer?)	dbSNP gnomAD v2 gnomAD v4
22	g.50720792_50720793del	CA2819316045	SHANK3	c.2560_2561del (p.Pro854AspfsTer?) n.3144_3145del c.1612_1613del (p.Pro538AspfsTer?) c.1102_1103del (p.Pro368AspfsTer?) c.1558_1559del (n.1558_1559del) c.2956_2957del (p.Pro986AspfsTer?) c.2938_2939del (p.Pro980AspfsTer?)
22	g.50720791C>A	CA515260299	SHANK3	c.2559C>A (p.Ser853=) n.3143C>A c.1611C>A (p.Ser537=) c.1101C>A (p.Ser367=) c.1557C>A (n.1557C>A) c.2955C>A (p.Ser985=) c.2937C>A (p.Ser979=)	gnomAD v4
22	g.50720791C=	CA2411007828	SHANK3	c.2559C= (p.Ser853=) n.3143C= c.1611C= (p.Ser537=) c.1101C= (p.Ser367=) c.1557C= (n.1557C=) c.2955C= (p.Ser985=) c.2937C= (p.Ser979=)
22	g.50720791C>G	CA515260300	SHANK3	c.2559C>G (p.Ser853=) n.3143C>G c.1611C>G (p.Ser537=) c.1101C>G (p.Ser367=) c.1557C>G (n.1557C>G) c.2955C>G (p.Ser985=) c.2937C>G (p.Ser979=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720791C>T	CA515260301	SHANK3	c.2559C>T (p.Ser853=) n.3143C>T c.1611C>T (p.Ser537=) c.1101C>T (p.Ser367=) c.1557C>T (n.1557C>T) c.2955C>T (p.Ser985=) c.2937C>T (p.Ser979=)	gnomAD v4
22	g.50720792C>A	CA515260302	SHANK3	c.2560C>A (p.Pro854Thr) n.3144C>A c.1612C>A (p.Pro538Thr) c.1102C>A (p.Pro368Thr) c.1558C>A (n.1558C>A) c.2956C>A (p.Pro986Thr) c.2938C>A (p.Pro980Thr)	gnomAD v4
22	g.50720792C>G	CA515260303	SHANK3	c.2560C>G (p.Pro854Ala) n.3144C>G c.1612C>G (p.Pro538Ala) c.1102C>G (p.Pro368Ala) c.1558C>G (n.1558C>G) c.2956C>G (p.Pro986Ala) c.2938C>G (p.Pro980Ala)	gnomAD v4
22	g.50720792C>T	CA515260304	SHANK3	c.2560C>T (p.Pro854Ser) n.3144C>T c.1612C>T (p.Pro538Ser) c.1102C>T (p.Pro368Ser) c.1558C>T (n.1558C>T) c.2956C>T (p.Pro986Ser) c.2938C>T (p.Pro980Ser)	gnomAD v4
22	g.50720793C>A	CA515260305	SHANK3	c.2561C>A (p.Pro854Gln) n.3145C>A c.1613C>A (p.Pro538Gln) c.1103C>A (p.Pro368Gln) c.1559C>A (n.1559C>A) c.2957C>A (p.Pro986Gln) c.2939C>A (p.Pro980Gln)	gnomAD v4
22	g.50720793C>G	CA515260306	SHANK3	c.2561C>G (p.Pro854Arg) n.3145C>G c.1613C>G (p.Pro538Arg) c.1103C>G (p.Pro368Arg) c.1559C>G (n.1559C>G) c.2957C>G (p.Pro986Arg) c.2939C>G (p.Pro980Arg)	gnomAD v4
22	g.50720793C>T	CA515260307	SHANK3	c.2561C>T (p.Pro854Leu) n.3145C>T c.1613C>T (p.Pro538Leu) c.1103C>T (p.Pro368Leu) c.1559C>T (n.1559C>T) c.2957C>T (p.Pro986Leu) c.2939C>T (p.Pro980Leu)	gnomAD v4
22	g.50720794G>A	CA515260311	SHANK3	c.2562G>A (p.Pro854=) n.3146G>A c.1614G>A (p.Pro538=) c.1104G>A (p.Pro368=) c.1560G>A (n.1560G>A) c.2958G>A (p.Pro986=) c.2940G>A (p.Pro980=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720794G>C	CA515260310	SHANK3	c.2562G>C (p.Pro854=) n.3146G>C c.1614G>C (p.Pro538=) c.1104G>C (p.Pro368=) c.1560G>C (n.1560G>C) c.2958G>C (p.Pro986=) c.2940G>C (p.Pro980=)
22	g.50720794G=	CA2411007829	SHANK3	c.2562G= (p.Pro854=) n.3146G= c.1614G= (p.Pro538=) c.1104G= (p.Pro368=) c.1560G= (n.1560G=) c.2958G= (p.Pro986=) c.2940G= (p.Pro980=)
22	g.50720794G>T	CA515260309	SHANK3	c.2562G>T (p.Pro854=) n.3146G>T c.1614G>T (p.Pro538=) c.1104G>T (p.Pro368=) c.1560G>T (n.1560G>T) c.2958G>T (p.Pro986=) c.2940G>T (p.Pro980=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720795A=	CA2411007830	SHANK3	c.2563A= (p.Thr855=) n.3147A= c.1615A= (p.Thr539=) c.1105A= (p.Thr369=) c.1561A= (n.1561A=) c.2959A= (p.Thr987=) c.2941A= (p.Thr981=)
22	g.50720795A>C	CA515260312	SHANK3	c.2563A>C (p.Thr855Pro) n.3147A>C c.1615A>C (p.Thr539Pro) c.1105A>C (p.Thr369Pro) c.1561A>C (n.1561A>C) c.2959A>C (p.Thr987Pro) c.2941A>C (p.Thr981Pro)	dbSNP gnomAD v4
22	g.50720795A>G	CA515260314	SHANK3	c.2563A>G (p.Thr855Ala) n.3147A>G c.1615A>G (p.Thr539Ala) c.1105A>G (p.Thr369Ala) c.1561A>G (n.1561A>G) c.2959A>G (p.Thr987Ala) c.2941A>G (p.Thr981Ala)	dbSNP gnomAD v4
22	g.50720795A>T	CA515260313	SHANK3	c.2563A>T (p.Thr855Ser) n.3147A>T c.1615A>T (p.Thr539Ser) c.1105A>T (p.Thr369Ser) c.1561A>T (n.1561A>T) c.2959A>T (p.Thr987Ser) c.2941A>T (p.Thr981Ser)	gnomAD v4
22	g.50720796C>A	CA515260315	SHANK3	c.2564C>A (p.Thr855Asn) n.3148C>A c.1616C>A (p.Thr539Asn) c.1106C>A (p.Thr369Asn) c.1562C>A (n.1562C>A) c.2960C>A (p.Thr987Asn) c.2942C>A (p.Thr981Asn)	gnomAD v4
22	g.50720796C=	CA2411007831	SHANK3	c.2564C= (p.Thr855=) n.3148C= c.1616C= (p.Thr539=) c.1106C= (p.Thr369=) c.1562C= (n.1562C=) c.2960C= (p.Thr987=) c.2942C= (p.Thr981=)
22	g.50720796C>G	CA515260317	SHANK3	c.2564C>G (p.Thr855Ser) n.3148C>G c.1616C>G (p.Thr539Ser) c.1106C>G (p.Thr369Ser) c.1562C>G (n.1562C>G) c.2960C>G (p.Thr987Ser) c.2942C>G (p.Thr981Ser)
22	g.50720796C>T	CA515260316	SHANK3	c.2564C>T (p.Thr855Ile) n.3148C>T c.1616C>T (p.Thr539Ile) c.1106C>T (p.Thr369Ile) c.1562C>T (n.1562C>T) c.2960C>T (p.Thr987Ile) c.2942C>T (p.Thr981Ile)	dbSNP gnomAD v4
22	g.50720798del	CA2657583410	SHANK3	c.2566del (p.His856ThrfsTer?) n.3150del c.1618del (p.His540ThrfsTer?) c.1108del (p.His370ThrfsTer?) c.1564del (n.1564del) c.2962del (p.His988ThrfsTer?) c.2944del (p.His982ThrfsTer?)	gnomAD v4
22	g.50720797_50720810del	CA2740092005	SHANK3	c.2565_2578del (p.His856ProfsTer?) n.3149_3162del c.1617_1630del (p.His540ProfsTer?) c.1107_1120del (p.His370ProfsTer?) c.1563_1576del (n.1563_1576del) c.2961_2974del (p.His988ProfsTer?) c.2943_2956del (p.His982ProfsTer?)	ClinVar
22	g.50720797C>A	CA515260318	SHANK3	c.2565C>A (p.Thr855=) n.3149C>A c.1617C>A (p.Thr539=) c.1107C>A (p.Thr369=) c.1563C>A (n.1563C>A) c.2961C>A (p.Thr987=) c.2943C>A (p.Thr981=)	gnomAD v4
22	g.50720797C=	CA2411007832	SHANK3	c.2565C= (p.Thr855=) n.3149C= c.1617C= (p.Thr539=) c.1107C= (p.Thr369=) c.1563C= (n.1563C=) c.2961C= (p.Thr987=) c.2943C= (p.Thr981=)
22	g.50720797C>G	CA515260320	SHANK3	c.2565C>G (p.Thr855=) n.3149C>G c.1617C>G (p.Thr539=) c.1107C>G (p.Thr369=) c.1563C>G (n.1563C>G) c.2961C>G (p.Thr987=) c.2943C>G (p.Thr981=)	gnomAD v4
22	g.50720797C>T	CA515260319	SHANK3	c.2565C>T (p.Thr855=) n.3149C>T c.1617C>T (p.Thr539=) c.1107C>T (p.Thr369=) c.1563C>T (n.1563C>T) c.2961C>T (p.Thr987=) c.2943C>T (p.Thr981=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720798C>A	CA515260321	SHANK3	c.2566C>A (p.His856Asn) n.3150C>A c.1618C>A (p.His540Asn) c.1108C>A (p.His370Asn) c.1564C>A (n.1564C>A) c.2962C>A (p.His988Asn) c.2944C>A (p.His982Asn)	gnomAD v4
22	g.50720798C>G	CA515260322	SHANK3	c.2566C>G (p.His856Asp) n.3150C>G c.1618C>G (p.His540Asp) c.1108C>G (p.His370Asp) c.1564C>G (n.1564C>G) c.2962C>G (p.His988Asp) c.2944C>G (p.His982Asp)	gnomAD v4
22	g.50720798C>T	CA515260323	SHANK3	c.2566C>T (p.His856Tyr) n.3150C>T c.1618C>T (p.His540Tyr) c.1108C>T (p.His370Tyr) c.1564C>T (n.1564C>T) c.2962C>T (p.His988Tyr) c.2944C>T (p.His982Tyr)	gnomAD v4
22	g.50720799A>C	CA515260324	SHANK3	c.2567A>C (p.His856Pro) n.3151A>C c.1619A>C (p.His540Pro) c.1109A>C (p.His370Pro) c.1565A>C (n.1565A>C) c.2963A>C (p.His988Pro) c.2945A>C (p.His982Pro)	ClinVar gnomAD v3 gnomAD v4
22	g.50720799A>G	CA515260325	SHANK3	c.2567A>G (p.His856Arg) n.3151A>G c.1619A>G (p.His540Arg) c.1109A>G (p.His370Arg) c.1565A>G (n.1565A>G) c.2963A>G (p.His988Arg) c.2945A>G (p.His982Arg)	gnomAD v4
22	g.50720799A>T	CA515260326	SHANK3	c.2567A>T (p.His856Leu) n.3151A>T c.1619A>T (p.His540Leu) c.1109A>T (p.His370Leu) c.1565A>T (n.1565A>T) c.2963A>T (p.His988Leu) c.2945A>T (p.His982Leu)
22	g.50720800C>A	CA515260329	SHANK3	c.2568C>A (p.His856Gln) n.3152C>A c.1620C>A (p.His540Gln) c.1110C>A (p.His370Gln) c.1566C>A (n.1566C>A) c.2964C>A (p.His988Gln) c.2946C>A (p.His982Gln)	gnomAD v4
22	g.50720800C>G	CA515260328	SHANK3	c.2568C>G (p.His856Gln) n.3152C>G c.1620C>G (p.His540Gln) c.1110C>G (p.His370Gln) c.1566C>G (n.1566C>G) c.2964C>G (p.His988Gln) c.2946C>G (p.His982Gln)	gnomAD v4
22	g.50720800C>T	CA515260327	SHANK3	c.2568C>T (p.His856=) n.3152C>T c.1620C>T (p.His540=) c.1110C>T (p.His370=) c.1566C>T (n.1566C>T) c.2964C>T (p.His988=) c.2946C>T (p.His982=)	gnomAD v4
22	g.50720801C>A	CA515260330	SHANK3	c.2569C>A (p.Arg857Ser) n.3153C>A c.1621C>A (p.Arg541Ser) c.1111C>A (p.Arg371Ser) c.1567C>A (n.1567C>A) c.2965C>A (p.Arg989Ser) c.2947C>A (p.Arg983Ser)	gnomAD v4
22	g.50720801C>G	CA515260331	SHANK3	c.2569C>G (p.Arg857Gly) n.3153C>G c.1621C>G (p.Arg541Gly) c.1111C>G (p.Arg371Gly) c.1567C>G (n.1567C>G) c.2965C>G (p.Arg989Gly) c.2947C>G (p.Arg983Gly)
22	g.50720801C>T	CA515260332	SHANK3	c.2569C>T (p.Arg857Cys) n.3153C>T c.1621C>T (p.Arg541Cys) c.1111C>T (p.Arg371Cys) c.1567C>T (n.1567C>T) c.2965C>T (p.Arg989Cys) c.2947C>T (p.Arg983Cys)	gnomAD v4
22	g.50720802del	CA2819316059	SHANK3	c.2570del (p.Arg857ProfsTer?) n.3154del c.1622del (p.Arg541ProfsTer?) c.1112del (p.Arg371ProfsTer?) c.1568del (n.1568del) c.2966del (p.Arg989ProfsTer?) c.2948del (p.Arg983ProfsTer?)
22	g.50720802G>A	CA515260333	SHANK3	c.2570G>A (p.Arg857His) n.3154G>A c.1622G>A (p.Arg541His) c.1112G>A (p.Arg371His) c.1568G>A (n.1568G>A) c.2966G>A (p.Arg989His) c.2948G>A (p.Arg983His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720802G>C	CA515260334	SHANK3	c.2570G>C (p.Arg857Pro) n.3154G>C c.1622G>C (p.Arg541Pro) c.1112G>C (p.Arg371Pro) c.1568G>C (n.1568G>C) c.2966G>C (p.Arg989Pro) c.2948G>C (p.Arg983Pro)
22	g.50720802G=	CA2411007833	SHANK3	c.2570G= (p.Arg857=) n.3154G= c.1622G= (p.Arg541=) c.1112G= (p.Arg371=) c.1568G= (n.1568G=) c.2966G= (p.Arg989=) c.2948G= (p.Arg983=)
22	g.50720802G>T	CA515260335	SHANK3	c.2570G>T (p.Arg857Leu) n.3154G>T c.1622G>T (p.Arg541Leu) c.1112G>T (p.Arg371Leu) c.1568G>T (n.1568G>T) c.2966G>T (p.Arg989Leu) c.2948G>T (p.Arg983Leu)	gnomAD v4
22	g.50720803del	CA2657583411	SHANK3	c.2571del (p.Gly858ValfsTer?) n.3155del c.1623del (p.Gly542ValfsTer?) c.1113del (p.Gly372ValfsTer?) c.1569del (n.1569del) c.2967del (p.Gly990ValfsTer?) c.2949del (p.Gly984ValfsTer?)	gnomAD v4
22	g.50720803C>A	CA515260336	SHANK3	c.2571C>A (p.Arg857=) n.3155C>A c.1623C>A (p.Arg541=) c.1113C>A (p.Arg371=) c.1569C>A (n.1569C>A) c.2967C>A (p.Arg989=) c.2949C>A (p.Arg983=)	ClinVar dbSNP gnomAD v4
22	g.50720803C=	CA2411007834	SHANK3	c.2571C= (p.Arg857=) n.3155C= c.1623C= (p.Arg541=) c.1113C= (p.Arg371=) c.1569C= (n.1569C=) c.2967C= (p.Arg989=) c.2949C= (p.Arg983=)
22	g.50720803C>G	CA515260338	SHANK3	c.2571C>G (p.Arg857=) n.3155C>G c.1623C>G (p.Arg541=) c.1113C>G (p.Arg371=) c.1569C>G (n.1569C>G) c.2967C>G (p.Arg989=) c.2949C>G (p.Arg983=)	gnomAD v4
22	g.50720803C>T	CA515260337	SHANK3	c.2571C>T (p.Arg857=) n.3155C>T c.1623C>T (p.Arg541=) c.1113C>T (p.Arg371=) c.1569C>T (n.1569C>T) c.2967C>T (p.Arg989=) c.2949C>T (p.Arg983=)	gnomAD v4
22	g.50720804G>A	CA325578304	SHANK3	c.2572G>A (p.Gly858Ser) n.3156G>A c.1624G>A (p.Gly542Ser) c.1114G>A (p.Gly372Ser) c.1570G>A (n.1570G>A) c.2968G>A (p.Gly990Ser) c.2950G>A (p.Gly984Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720804G>C	CA515260339	SHANK3	c.2572G>C (p.Gly858Arg) n.3156G>C c.1624G>C (p.Gly542Arg) c.1114G>C (p.Gly372Arg) c.1570G>C (n.1570G>C) c.2968G>C (p.Gly990Arg) c.2950G>C (p.Gly984Arg)	gnomAD v4
22	g.50720804G=	CA2411007835	SHANK3	c.2572G= (p.Gly858=) n.3156G= c.1624G= (p.Gly542=) c.1114G= (p.Gly372=) c.1570G= (n.1570G=) c.2968G= (p.Gly990=) c.2950G= (p.Gly984=)
22	g.50720804G>T	CA515260340	SHANK3	c.2572G>T (p.Gly858Cys) n.3156G>T c.1624G>T (p.Gly542Cys) c.1114G>T (p.Gly372Cys) c.1570G>T (n.1570G>T) c.2968G>T (p.Gly990Cys) c.2950G>T (p.Gly984Cys)	gnomAD v4
22	g.50720805del	CA2657583412	SHANK3	c.2573del (p.Gly858ValfsTer?) n.3157del c.1625del (p.Gly542ValfsTer?) c.1115del (p.Gly372ValfsTer?) c.1571del (n.1571del) c.2969del (p.Gly990ValfsTer?) c.2951del (p.Gly984ValfsTer?)	gnomAD v4
22	g.50720805G>A	CA515260341	SHANK3	c.2573G>A (p.Gly858Asp) n.3157G>A c.1625G>A (p.Gly542Asp) c.1115G>A (p.Gly372Asp) c.1571G>A (n.1571G>A) c.2969G>A (p.Gly990Asp) c.2951G>A (p.Gly984Asp)	gnomAD v4
22	g.50720805G>C	CA515260342	SHANK3	c.2573G>C (p.Gly858Ala) n.3157G>C c.1625G>C (p.Gly542Ala) c.1115G>C (p.Gly372Ala) c.1571G>C (n.1571G>C) c.2969G>C (p.Gly990Ala) c.2951G>C (p.Gly984Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720805G=	CA2411007836	SHANK3	c.2573G= (p.Gly858=) n.3157G= c.1625G= (p.Gly542=) c.1115G= (p.Gly372=) c.1571G= (n.1571G=) c.2969G= (p.Gly990=) c.2951G= (p.Gly984=)
22	g.50720805G>T	CA515260343	SHANK3	c.2573G>T (p.Gly858Val) n.3157G>T c.1625G>T (p.Gly542Val) c.1115G>T (p.Gly372Val) c.1571G>T (n.1571G>T) c.2969G>T (p.Gly990Val) c.2951G>T (p.Gly984Val)	gnomAD v4
22	g.50720805_50720808delinsGTCC	CA2411007837	SHANK3	c.2573_2576delinsGTCC (p.Gly858=) n.3157_3160delinsGTCC c.1625_1628delinsGTCC (p.Gly542=) c.1115_1118delinsGTCC (p.Gly372=) c.1571_1574delinsGTCC (n.1571_1574delinsGTCC) c.2969_2972delinsGTCC (p.Gly990=) c.2951_2954delinsGTCC (p.Gly984=)
22	g.50720806T>A	CA515260344	SHANK3	c.2574T>A (p.Gly858=) n.3158T>A c.1626T>A (p.Gly542=) c.1116T>A (p.Gly372=) c.1572T>A (n.1572T>A) c.2970T>A (p.Gly990=) c.2952T>A (p.Gly984=)	gnomAD v4
22	g.50720806T>C	CA515260345	SHANK3	c.2574T>C (p.Gly858=) n.3158T>C c.1626T>C (p.Gly542=) c.1116T>C (p.Gly372=) c.1572T>C (n.1572T>C) c.2970T>C (p.Gly990=) c.2952T>C (p.Gly984=)	gnomAD v4
22	g.50720806T>G	CA515260346	SHANK3	c.2574T>G (p.Gly858=) n.3158T>G c.1626T>G (p.Gly542=) c.1116T>G (p.Gly372=) c.1572T>G (n.1572T>G) c.2970T>G (p.Gly990=) c.2952T>G (p.Gly984=)
22	g.50720806_50720808del	CA640358970	SHANK3	c.2574_2576del (p.Pro859del) n.3158_3160del c.1626_1628del (p.Pro543del) c.1116_1118del (p.Pro373del) c.1572_1574del (n.1572_1574del) c.2970_2972del (p.Pro991del) c.2952_2954del (p.Pro985del)	dbSNP gnomAD v2
22	g.50720807C>A	CA515260347	SHANK3	c.2575C>A (p.Pro859Thr) n.3159C>A c.1627C>A (p.Pro543Thr) c.1117C>A (p.Pro373Thr) c.1573C>A (n.1573C>A) c.2971C>A (p.Pro991Thr) c.2953C>A (p.Pro985Thr)	gnomAD v4
22	g.50720807C=	CA2411007838	SHANK3	c.2575C= (p.Pro859=) n.3159C= c.1627C= (p.Pro543=) c.1117C= (p.Pro373=) c.1573C= (n.1573C=) c.2971C= (p.Pro991=) c.2953C= (p.Pro985=)
22	g.50720807C>G	CA515260348	SHANK3	c.2575C>G (p.Pro859Ala) n.3159C>G c.1627C>G (p.Pro543Ala) c.1117C>G (p.Pro373Ala) c.1573C>G (n.1573C>G) c.2971C>G (p.Pro991Ala) c.2953C>G (p.Pro985Ala)	gnomAD v4
22	g.50720807C>T	CA515260349	SHANK3	c.2575C>T (p.Pro859Ser) n.3159C>T c.1627C>T (p.Pro543Ser) c.1117C>T (p.Pro373Ser) c.1573C>T (n.1573C>T) c.2971C>T (p.Pro991Ser) c.2953C>T (p.Pro985Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720808C>A	CA515260350	SHANK3	c.2576C>A (p.Pro859Gln) n.3160C>A c.1628C>A (p.Pro543Gln) c.1118C>A (p.Pro373Gln) c.1574C>A (n.1574C>A) c.2972C>A (p.Pro991Gln) c.2954C>A (p.Pro985Gln)	gnomAD v4
22	g.50720808C=	CA2411007839	SHANK3	c.2576C= (p.Pro859=) n.3160C= c.1628C= (p.Pro543=) c.1118C= (p.Pro373=) c.1574C= (n.1574C=) c.2972C= (p.Pro991=) c.2954C= (p.Pro985=)
22	g.50720808C>G	CA515260352	SHANK3	c.2576C>G (p.Pro859Arg) n.3160C>G c.1628C>G (p.Pro543Arg) c.1118C>G (p.Pro373Arg) c.1574C>G (n.1574C>G) c.2972C>G (p.Pro991Arg) c.2954C>G (p.Pro985Arg)	gnomAD v4
22	g.50720808C>T	CA515260351	SHANK3	c.2576C>T (p.Pro859Leu) n.3160C>T c.1628C>T (p.Pro543Leu) c.1118C>T (p.Pro373Leu) c.1574C>T (n.1574C>T) c.2972C>T (p.Pro991Leu) c.2954C>T (p.Pro985Leu)	dbSNP gnomAD v4
22	g.50720809G>A	CA515260353	SHANK3	c.2577G>A (p.Pro859=) n.3161G>A c.1629G>A (p.Pro543=) c.1119G>A (p.Pro373=) c.1575G>A (n.1575G>A) c.2973G>A (p.Pro991=) c.2955G>A (p.Pro985=)	dbSNP gnomAD v4
22	g.50720809G>C	CA515260354	SHANK3	c.2577G>C (p.Pro859=) n.3161G>C c.1629G>C (p.Pro543=) c.1119G>C (p.Pro373=) c.1575G>C (n.1575G>C) c.2973G>C (p.Pro991=) c.2955G>C (p.Pro985=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720809G=	CA2411007840	SHANK3	c.2577G= (p.Pro859=) n.3161G= c.1629G= (p.Pro543=) c.1119G= (p.Pro373=) c.1575G= (n.1575G=) c.2973G= (p.Pro991=) c.2955G= (p.Pro985=)
22	g.50720809G>T	CA515260355	SHANK3	c.2577G>T (p.Pro859=) n.3161G>T c.1629G>T (p.Pro543=) c.1119G>T (p.Pro373=) c.1575G>T (n.1575G>T) c.2973G>T (p.Pro991=) c.2955G>T (p.Pro985=)	gnomAD v4
22	g.50720810C>A	CA515260356	SHANK3	c.2578C>A (p.Arg860Ser) n.3162C>A c.1630C>A (p.Arg544Ser) c.1120C>A (p.Arg374Ser) c.1576C>A (n.1576C>A) c.2974C>A (p.Arg992Ser) c.2956C>A (p.Arg986Ser)	ClinVar dbSNP gnomAD v4
22	g.50720810C=	CA2411007841	SHANK3	c.2578C= (p.Arg860=) n.3162C= c.1630C= (p.Arg544=) c.1120C= (p.Arg374=) c.1576C= (n.1576C=) c.2974C= (p.Arg992=) c.2956C= (p.Arg986=)
22	g.50720810C>G	CA515260357	SHANK3	c.2578C>G (p.Arg860Gly) n.3162C>G c.1630C>G (p.Arg544Gly) c.1120C>G (p.Arg374Gly) c.1576C>G (n.1576C>G) c.2974C>G (p.Arg992Gly) c.2956C>G (p.Arg986Gly)
22	g.50720810C>T	CA515260358	SHANK3	c.2578C>T (p.Arg860Cys) n.3162C>T c.1630C>T (p.Arg544Cys) c.1120C>T (p.Arg374Cys) c.1576C>T (n.1576C>T) c.2974C>T (p.Arg992Cys) c.2956C>T (p.Arg986Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.50720811G>A	CA515260359	SHANK3	c.2579G>A (p.Arg860His) n.3163G>A c.1631G>A (p.Arg544His) c.1121G>A (p.Arg374His) c.1577G>A (n.1577G>A) c.2975G>A (p.Arg992His) c.2957G>A (p.Arg986His)	gnomAD v4
22	g.50720811G>C	CA515260360	SHANK3	c.2579G>C (p.Arg860Pro) n.3163G>C c.1631G>C (p.Arg544Pro) c.1121G>C (p.Arg374Pro) c.1577G>C (n.1577G>C) c.2975G>C (p.Arg992Pro) c.2957G>C (p.Arg986Pro)
22	g.50720811G>T	CA515260361	SHANK3	c.2579G>T (p.Arg860Leu) n.3163G>T c.1631G>T (p.Arg544Leu) c.1121G>T (p.Arg374Leu) c.1577G>T (n.1577G>T) c.2975G>T (p.Arg992Leu) c.2957G>T (p.Arg986Leu)	gnomAD v4
22	g.50720812C>A	CA515260362	SHANK3	c.2580C>A (p.Arg860=) n.3164C>A c.1632C>A (p.Arg544=) c.1122C>A (p.Arg374=) c.1578C>A (n.1578C>A) c.2976C>A (p.Arg992=) c.2958C>A (p.Arg986=)	gnomAD v4
22	g.50720812C>G	CA515260363	SHANK3	c.2580C>G (p.Arg860=) n.3164C>G c.1632C>G (p.Arg544=) c.1122C>G (p.Arg374=) c.1578C>G (n.1578C>G) c.2976C>G (p.Arg992=) c.2958C>G (p.Arg986=)
22	g.50720812C>T	CA515260364	SHANK3	c.2580C>T (p.Arg860=) n.3164C>T c.1632C>T (p.Arg544=) c.1122C>T (p.Arg374=) c.1578C>T (n.1578C>T) c.2976C>T (p.Arg992=) c.2958C>T (p.Arg986=)	gnomAD v4
22	g.50720814del	CA2819316074	SHANK3	c.2582del (p.Pro861ArgfsTer?) n.3166del c.1634del (p.Pro545ArgfsTer?) c.1124del (p.Pro375ArgfsTer?) c.1580del (n.1580del) c.2978del (p.Pro993ArgfsTer?) c.2960del (p.Pro987ArgfsTer?)
22	g.50720813C>A	CA515260367	SHANK3	c.2581C>A (p.Pro861Thr) n.3165C>A c.1633C>A (p.Pro545Thr) c.1123C>A (p.Pro375Thr) c.1579C>A (n.1579C>A) c.2977C>A (p.Pro993Thr) c.2959C>A (p.Pro987Thr)	gnomAD v4
22	g.50720813C=	CA2411007842	SHANK3	c.2581C= (p.Pro861=) n.3165C= c.1633C= (p.Pro545=) c.1123C= (p.Pro375=) c.1579C= (n.1579C=) c.2977C= (p.Pro993=) c.2959C= (p.Pro987=)
22	g.50720813C>G	CA515260366	SHANK3	c.2581C>G (p.Pro861Ala) n.3165C>G c.1633C>G (p.Pro545Ala) c.1123C>G (p.Pro375Ala) c.1579C>G (n.1579C>G) c.2977C>G (p.Pro993Ala) c.2959C>G (p.Pro987Ala)
22	g.50720813C>T	CA515260365	SHANK3	c.2581C>T (p.Pro861Ser) n.3165C>T c.1633C>T (p.Pro545Ser) c.1123C>T (p.Pro375Ser) c.1579C>T (n.1579C>T) c.2977C>T (p.Pro993Ser) c.2959C>T (p.Pro987Ser)	dbSNP gnomAD v4
22	g.50720814C>A	CA515260368	SHANK3	c.2582C>A (p.Pro861Gln) n.3166C>A c.1634C>A (p.Pro545Gln) c.1124C>A (p.Pro375Gln) c.1580C>A (n.1580C>A) c.2978C>A (p.Pro993Gln) c.2960C>A (p.Pro987Gln)	gnomAD v4
22	g.50720814C=	CA2411007843	SHANK3	c.2582C= (p.Pro861=) n.3166C= c.1634C= (p.Pro545=) c.1124C= (p.Pro375=) c.1580C= (n.1580C=) c.2978C= (p.Pro993=) c.2960C= (p.Pro987=)
22	g.50720814C>G	CA515260369	SHANK3	c.2582C>G (p.Pro861Arg) n.3166C>G c.1634C>G (p.Pro545Arg) c.1124C>G (p.Pro375Arg) c.1580C>G (n.1580C>G) c.2978C>G (p.Pro993Arg) c.2960C>G (p.Pro987Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50720814C>T	CA325578308	SHANK3	c.2582C>T (p.Pro861Leu) n.3166C>T c.1634C>T (p.Pro545Leu) c.1124C>T (p.Pro375Leu) c.1580C>T (n.1580C>T) c.2978C>T (p.Pro993Leu) c.2960C>T (p.Pro987Leu)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50720814_50720815delinsCG	CA2411007844	SHANK3	c.2582_2583delinsCG (p.Pro861=) n.3166_3167delinsCG c.1634_1635delinsCG (p.Pro545=) c.1124_1125delinsCG (p.Pro375=) c.1580_1581delinsCG (n.1580_1581delinsCG) c.2978_2979delinsCG (p.Pro993=) c.2960_2961delinsCG (p.Pro987=)
22	g.50720815G>A	CA515260370	SHANK3	c.2583G>A (p.Pro861=) n.3167G>A c.1635G>A (p.Pro545=) c.1125G>A (p.Pro375=) c.1581G>A (n.1581G>A) c.2979G>A (p.Pro993=) c.2961G>A (p.Pro987=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720815G>C	CA515260371	SHANK3	c.2583G>C (p.Pro861=) n.3167G>C c.1635G>C (p.Pro545=) c.1125G>C (p.Pro375=) c.1581G>C (n.1581G>C) c.2979G>C (p.Pro993=) c.2961G>C (p.Pro987=)	dbSNP
22	g.50720815G=	CA2411007845	SHANK3	c.2583G= (p.Pro861=) n.3167G= c.1635G= (p.Pro545=) c.1125G= (p.Pro375=) c.1581G= (n.1581G=) c.2979G= (p.Pro993=) c.2961G= (p.Pro987=)
22	g.50720815G>T	CA515260372	SHANK3	c.2583G>T (p.Pro861=) n.3167G>T c.1635G>T (p.Pro545=) c.1125G>T (p.Pro375=) c.1581G>T (n.1581G>T) c.2979G>T (p.Pro993=) c.2961G>T (p.Pro987=)	gnomAD v4
22	g.50720817del	CA1139667201	SHANK3	c.2585del (p.Gly862ValfsTer?) n.3169del c.1637del (p.Gly546ValfsTer?) c.1127del (p.Gly376ValfsTer?) c.1583del (n.1583del) c.2981del (p.Gly994ValfsTer?) c.2963del (p.Gly988ValfsTer?)	ClinVar dbSNP gnomAD v4
22	g.50720816G>A	CA515260373	SHANK3	c.2584G>A (p.Gly862Ser) n.3168G>A c.1636G>A (p.Gly546Ser) c.1126G>A (p.Gly376Ser) c.1582G>A (n.1582G>A) c.2980G>A (p.Gly994Ser) c.2962G>A (p.Gly988Ser)	gnomAD v4
22	g.50720816G>C	CA515260374	SHANK3	c.2584G>C (p.Gly862Arg) n.3168G>C c.1636G>C (p.Gly546Arg) c.1126G>C (p.Gly376Arg) c.1582G>C (n.1582G>C) c.2980G>C (p.Gly994Arg) c.2962G>C (p.Gly988Arg)	gnomAD v4
22	g.50720816G>T	CA515260375	SHANK3	c.2584G>T (p.Gly862Cys) n.3168G>T c.1636G>T (p.Gly546Cys) c.1126G>T (p.Gly376Cys) c.1582G>T (n.1582G>T) c.2980G>T (p.Gly994Cys) c.2962G>T (p.Gly988Cys)	gnomAD v4
22	g.50720817G>A	CA515260376	SHANK3	c.2585G>A (p.Gly862Asp) n.3169G>A c.1637G>A (p.Gly546Asp) c.1127G>A (p.Gly376Asp) c.1583G>A (n.1583G>A) c.2981G>A (p.Gly994Asp) c.2963G>A (p.Gly988Asp)	gnomAD v4
22	g.50720817G>C	CA515260377	SHANK3	c.2585G>C (p.Gly862Ala) n.3169G>C c.1637G>C (p.Gly546Ala) c.1127G>C (p.Gly376Ala) c.1583G>C (n.1583G>C) c.2981G>C (p.Gly994Ala) c.2963G>C (p.Gly988Ala)	gnomAD v4
22	g.50720817G>T	CA515260378	SHANK3	c.2585G>T (p.Gly862Val) n.3169G>T c.1637G>T (p.Gly546Val) c.1127G>T (p.Gly376Val) c.1583G>T (n.1583G>T) c.2981G>T (p.Gly994Val) c.2963G>T (p.Gly988Val)	gnomAD v4
22	g.50720818T>A	CA515260379	SHANK3	c.2586T>A (p.Gly862=) n.3170T>A c.1638T>A (p.Gly546=) c.1128T>A (p.Gly376=) c.1584T>A (n.1584T>A) c.2982T>A (p.Gly994=) c.2964T>A (p.Gly988=)
22	g.50720818T>C	CA515260381	SHANK3	c.2586T>C (p.Gly862=) n.3170T>C c.1638T>C (p.Gly546=) c.1128T>C (p.Gly376=) c.1584T>C (n.1584T>C) c.2982T>C (p.Gly994=) c.2964T>C (p.Gly988=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720818T>G	CA515260380	SHANK3	c.2586T>G (p.Gly862=) n.3170T>G c.1638T>G (p.Gly546=) c.1128T>G (p.Gly376=) c.1584T>G (n.1584T>G) c.2982T>G (p.Gly994=) c.2964T>G (p.Gly988=)	dbSNP
22	g.50720818T=	CA2411007846	SHANK3	c.2586T= (p.Gly862=) n.3170T= c.1638T= (p.Gly546=) c.1128T= (p.Gly376=) c.1584T= (n.1584T=) c.2982T= (p.Gly994=) c.2964T= (p.Gly988=)
22	g.50720819G>A	CA515260382	SHANK3	c.2587G>A (p.Gly863Ser) n.3171G>A c.1639G>A (p.Gly547Ser) c.1129G>A (p.Gly377Ser) c.1585G>A (n.1585G>A) c.2983G>A (p.Gly995Ser) c.2965G>A (p.Gly989Ser)	gnomAD v4
22	g.50720819G>C	CA515260384	SHANK3	c.2587G>C (p.Gly863Arg) n.3171G>C c.1639G>C (p.Gly547Arg) c.1129G>C (p.Gly377Arg) c.1585G>C (n.1585G>C) c.2983G>C (p.Gly995Arg) c.2965G>C (p.Gly989Arg)	gnomAD v4
22	g.50720819G>T	CA515260383	SHANK3	c.2587G>T (p.Gly863Cys) n.3171G>T c.1639G>T (p.Gly547Cys) c.1129G>T (p.Gly377Cys) c.1585G>T (n.1585G>T) c.2983G>T (p.Gly995Cys) c.2965G>T (p.Gly989Cys)	gnomAD v4
22	g.50720820del	CA2657583413	SHANK3	c.2588del (p.Gly863AlafsTer?) n.3172del c.1640del (p.Gly547AlafsTer?) c.1130del (p.Gly377AlafsTer?) c.1586del (n.1586del) c.2984del (p.Gly995AlafsTer?) c.2966del (p.Gly989AlafsTer?)	gnomAD v4
22	g.50720820G>A	CA515260385	SHANK3	c.2588G>A (p.Gly863Asp) n.3172G>A c.1640G>A (p.Gly547Asp) c.1130G>A (p.Gly377Asp) c.1586G>A (n.1586G>A) c.2984G>A (p.Gly995Asp) c.2966G>A (p.Gly989Asp)	gnomAD v4
22	g.50720820G>C	CA515260386	SHANK3	c.2588G>C (p.Gly863Ala) n.3172G>C c.1640G>C (p.Gly547Ala) c.1130G>C (p.Gly377Ala) c.1586G>C (n.1586G>C) c.2984G>C (p.Gly995Ala) c.2966G>C (p.Gly989Ala)
22	g.50720820G=	CA2411007847	SHANK3	c.2588G= (p.Gly863=) n.3172G= c.1640G= (p.Gly547=) c.1130G= (p.Gly377=) c.1586G= (n.1586G=) c.2984G= (p.Gly995=) c.2966G= (p.Gly989=)
22	g.50720820G>T	CA325578326	SHANK3	c.2588G>T (p.Gly863Val) n.3172G>T c.1640G>T (p.Gly547Val) c.1130G>T (p.Gly377Val) c.1586G>T (n.1586G>T) c.2984G>T (p.Gly995Val) c.2966G>T (p.Gly989Val)	dbSNP gnomAD v4
22	g.50720821C>A	CA515260387	SHANK3	c.2589C>A (p.Gly863=) n.3173C>A c.1641C>A (p.Gly547=) c.1131C>A (p.Gly377=) c.1587C>A (n.1587C>A) c.2985C>A (p.Gly995=) c.2967C>A (p.Gly989=)	gnomAD v4
22	g.50720821C=	CA2411007848	SHANK3	c.2589C= (p.Gly863=) n.3173C= c.1641C= (p.Gly547=) c.1131C= (p.Gly377=) c.1587C= (n.1587C=) c.2985C= (p.Gly995=) c.2967C= (p.Gly989=)
22	g.50720821C>G	CA515260388	SHANK3	c.2589C>G (p.Gly863=) n.3173C>G c.1641C>G (p.Gly547=) c.1131C>G (p.Gly377=) c.1587C>G (n.1587C>G) c.2985C>G (p.Gly995=) c.2967C>G (p.Gly989=)	gnomAD v4
22	g.50720821C>T	CA515260389	SHANK3	c.2589C>T (p.Gly863=) n.3173C>T c.1641C>T (p.Gly547=) c.1131C>T (p.Gly377=) c.1587C>T (n.1587C>T) c.2985C>T (p.Gly995=) c.2967C>T (p.Gly989=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720822C>A	CA515260390	SHANK3	c.2590C>A (p.Leu864Ile) n.3174C>A c.1642C>A (p.Leu548Ile) c.1132C>A (p.Leu378Ile) c.1588C>A (n.1588C>A) c.2986C>A (p.Leu996Ile) c.2968C>A (p.Leu990Ile)	gnomAD v4
22	g.50720822C=	CA2411007849	SHANK3	c.2590C= (p.Leu864=) n.3174C= c.1642C= (p.Leu548=) c.1132C= (p.Leu378=) c.1588C= (n.1588C=) c.2986C= (p.Leu996=) c.2968C= (p.Leu990=)
22	g.50720822C>G	CA515260391	SHANK3	c.2590C>G (p.Leu864Val) n.3174C>G c.1642C>G (p.Leu548Val) c.1132C>G (p.Leu378Val) c.1588C>G (n.1588C>G) c.2986C>G (p.Leu996Val) c.2968C>G (p.Leu990Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720822C>T	CA515260392	SHANK3	c.2590C>T (p.Leu864Phe) n.3174C>T c.1642C>T (p.Leu548Phe) c.1132C>T (p.Leu378Phe) c.1588C>T (n.1588C>T) c.2986C>T (p.Leu996Phe) c.2968C>T (p.Leu990Phe)	dbSNP gnomAD v4

Number of alleles fetched