Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50720285_50720365del	CA2657582781	SHANK3	c.2053_2133del (p.Gln685_Pro711del) n.2637_2717del c.1105_1185del (p.Gln369_Pro395del) c.595_675del (p.Gln199_Pro225del) c.1051_1131del (n.1051_1131del) c.2449_2529del (p.Gln817_Pro843del) c.2431_2511del (p.Gln811_Pro837del)	gnomAD v4
22	g.50720299_50720355del	CA2657582845	SHANK3	c.2067_2123del (p.Pro690_Pro708del) n.2651_2707del c.1119_1175del (p.Pro374_Pro392del) c.609_665del (p.Pro204_Pro222del) c.1065_1121del (n.1065_1121del) c.2463_2519del (p.Pro822_Pro840del) c.2445_2501del (p.Pro816_Pro834del)	gnomAD v4
22	g.50720308_50720364del	CA1026671807	SHANK3	c.2076_2132del (p.Ala693_Pro711del) n.2660_2716del c.1128_1184del (p.Ala377_Pro395del) c.618_674del (p.Ala207_Pro225del) c.1074_1130del (n.1074_1130del) c.2472_2528del (p.Ala825_Pro843del) c.2454_2510del (p.Ala819_Pro837del)	gnomAD v3 gnomAD v4
22	g.50720331_50720352delinsGGCCGCCCCCGGCCTTCTCGCC	CA2411007564	SHANK3	c.2099_2120delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly700=) n.2683_2704delinsGGCCGCCCCCGGCCTTCTCGCC c.1151_1172delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly384=) c.641_662delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly214=) c.1097_1118delinsGGCCGCCCCCGGCCTTCTCGCC (n.1097_1118delinsGGCCGCCCCCGGCCTTCTCGCC) c.2495_2516delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly832=) c.2477_2498delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly826=)
22	g.50720342_50720362dup	CA754092439	SHANK3	c.2110_2130dup (p.Pro710_Pro711insAlaPheSerProProProPro) n.2694_2714dup c.1162_1182dup (p.Pro394_Pro395insAlaPheSerProProProPro) c.652_672dup (p.Pro224_Pro225insAlaPheSerProProProPro) c.1108_1128dup (n.1108_1128dup) c.2506_2526dup (p.Pro842_Pro843insAlaPheSerProProProPro) c.2488_2508dup (p.Pro836_Pro837insAlaPheSerProProProPro)	dbSNP gnomAD v4
22	g.50720342_50720362del	CA2411007565	SHANK3	c.2110_2130del (p.Ala704_Pro710del) n.2694_2714del c.1162_1182del (p.Ala388_Pro394del) c.652_672del (p.Ala218_Pro224del) c.1108_1128del (n.1108_1128del) c.2506_2526del (p.Ala836_Pro842del) c.2488_2508del (p.Ala830_Pro836del)	dbSNP gnomAD v4
22	g.50720344_50720364del	CA2657582994	SHANK3	c.2112_2132del (p.Phe705_Pro711del) n.2696_2716del c.1164_1184del (p.Phe389_Pro395del) c.654_674del (p.Phe219_Pro225del) c.1110_1130del (n.1110_1130del) c.2508_2528del (p.Phe837_Pro843del) c.2490_2510del (p.Phe831_Pro837del)	gnomAD v4
22	g.50720349C>A	CA515259008	SHANK3	c.2117C>A (p.Ser706Ter) n.2701C>A c.1169C>A (p.Ser390Ter) c.659C>A (p.Ser220Ter) c.1115C>A (n.1115C>A) c.2513C>A (p.Ser838Ter) c.2495C>A (p.Ser832Ter)	gnomAD v4
22	g.50720349C=	CA2411007572	SHANK3	c.2117C= (p.Ser706=) n.2701C= c.1169C= (p.Ser390=) c.659C= (p.Ser220=) c.1115C= (n.1115C=) c.2513C= (p.Ser838=) c.2495C= (p.Ser832=)
22	g.50720349C>G	CA515259009	SHANK3	c.2117C>G (p.Ser706Trp) n.2701C>G c.1169C>G (p.Ser390Trp) c.659C>G (p.Ser220Trp) c.1115C>G (n.1115C>G) c.2513C>G (p.Ser838Trp) c.2495C>G (p.Ser832Trp)
22	g.50720349C>T	CA515259010	SHANK3	c.2117C>T (p.Ser706Leu) n.2701C>T c.1169C>T (p.Ser390Leu) c.659C>T (p.Ser220Leu) c.1115C>T (n.1115C>T) c.2513C>T (p.Ser838Leu) c.2495C>T (p.Ser832Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720356_50720358dup	CA2577768679	SHANK3	c.2124_2126dup (p.Pro709_Pro710insPro) n.2708_2710dup c.1176_1178dup (p.Pro393_Pro394insPro) c.666_668dup (p.Pro223_Pro224insPro) c.1122_1124dup (n.1122_1124dup) c.2520_2522dup (p.Pro841_Pro842insPro) c.2502_2504dup (p.Pro835_Pro836insPro)
22	g.50720356_50720358del	CA2657583013	SHANK3	c.2124_2126del (p.Pro709del) n.2708_2710del c.1176_1178del (p.Pro393del) c.666_668del (p.Pro223del) c.1122_1124del (n.1122_1124del) c.2520_2522del (p.Pro841del) c.2502_2504del (p.Pro835del)	gnomAD v4
22	g.50720350G>A	CA515259011	SHANK3	c.2118G>A (p.Ser706=) n.2702G>A c.1170G>A (p.Ser390=) c.660G>A (p.Ser220=) c.1116G>A (n.1116G>A) c.2514G>A (p.Ser838=) c.2496G>A (p.Ser832=)	dbSNP gnomAD v4
22	g.50720350G>C	CA515259012	SHANK3	c.2118G>C (p.Ser706=) n.2702G>C c.1170G>C (p.Ser390=) c.660G>C (p.Ser220=) c.1116G>C (n.1116G>C) c.2514G>C (p.Ser838=) c.2496G>C (p.Ser832=)	gnomAD v4
22	g.50720350G=	CA2411007573	SHANK3	c.2118G= (p.Ser706=) n.2702G= c.1170G= (p.Ser390=) c.660G= (p.Ser220=) c.1116G= (n.1116G=) c.2514G= (p.Ser838=) c.2496G= (p.Ser832=)
22	g.50720350G>T	CA515259013	SHANK3	c.2118G>T (p.Ser706=) n.2702G>T c.1170G>T (p.Ser390=) c.660G>T (p.Ser220=) c.1116G>T (n.1116G>T) c.2514G>T (p.Ser838=) c.2496G>T (p.Ser832=)	gnomAD v4
22	g.50720351C>A	CA515259016	SHANK3	c.2119C>A (p.Pro707Thr) n.2703C>A c.1171C>A (p.Pro391Thr) c.661C>A (p.Pro221Thr) c.1117C>A (n.1117C>A) c.2515C>A (p.Pro839Thr) c.2497C>A (p.Pro833Thr)	gnomAD v4
22	g.50720351C>G	CA515259015	SHANK3	c.2119C>G (p.Pro707Ala) n.2703C>G c.1171C>G (p.Pro391Ala) c.661C>G (p.Pro221Ala) c.1117C>G (n.1117C>G) c.2515C>G (p.Pro839Ala) c.2497C>G (p.Pro833Ala)
22	g.50720351C>T	CA515259014	SHANK3	c.2119C>T (p.Pro707Ser) n.2703C>T c.1171C>T (p.Pro391Ser) c.661C>T (p.Pro221Ser) c.1117C>T (n.1117C>T) c.2515C>T (p.Pro839Ser) c.2497C>T (p.Pro833Ser)	gnomAD v4
22	g.50720352C>A	CA515259019	SHANK3	c.2120C>A (p.Pro707Gln) n.2704C>A c.1172C>A (p.Pro391Gln) c.662C>A (p.Pro221Gln) c.1118C>A (n.1118C>A) c.2516C>A (p.Pro839Gln) c.2498C>A (p.Pro833Gln)	gnomAD v4
22	g.50720352C>G	CA515259017	SHANK3	c.2120C>G (p.Pro707Arg) n.2704C>G c.1172C>G (p.Pro391Arg) c.662C>G (p.Pro221Arg) c.1118C>G (n.1118C>G) c.2516C>G (p.Pro839Arg) c.2498C>G (p.Pro833Arg)
22	g.50720352C>T	CA515259018	SHANK3	c.2120C>T (p.Pro707Leu) n.2704C>T c.1172C>T (p.Pro391Leu) c.662C>T (p.Pro221Leu) c.1118C>T (n.1118C>T) c.2516C>T (p.Pro839Leu) c.2498C>T (p.Pro833Leu)	gnomAD v4
22	g.50720353G>A	CA515259020	SHANK3	c.2121G>A (p.Pro707=) n.2705G>A c.1173G>A (p.Pro391=) c.663G>A (p.Pro221=) c.1119G>A (n.1119G>A) c.2517G>A (p.Pro839=) c.2499G>A (p.Pro833=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720353G>C	CA515259021	SHANK3	c.2121G>C (p.Pro707=) n.2705G>C c.1173G>C (p.Pro391=) c.663G>C (p.Pro221=) c.1119G>C (n.1119G>C) c.2517G>C (p.Pro839=) c.2499G>C (p.Pro833=)	gnomAD v4
22	g.50720353G=	CA2411007574	SHANK3	c.2121G= (p.Pro707=) n.2705G= c.1173G= (p.Pro391=) c.663G= (p.Pro221=) c.1119G= (n.1119G=) c.2517G= (p.Pro839=) c.2499G= (p.Pro833=)
22	g.50720353G>T	CA515259022	SHANK3	c.2121G>T (p.Pro707=) n.2705G>T c.1173G>T (p.Pro391=) c.663G>T (p.Pro221=) c.1119G>T (n.1119G>T) c.2517G>T (p.Pro839=) c.2499G>T (p.Pro833=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720354C>A	CA515259025	SHANK3	c.2122C>A (p.Pro708Thr) n.2706C>A c.1174C>A (p.Pro392Thr) c.664C>A (p.Pro222Thr) c.1120C>A (n.1120C>A) c.2518C>A (p.Pro840Thr) c.2500C>A (p.Pro834Thr)	gnomAD v4
22	g.50720354C>G	CA515259024	SHANK3	c.2122C>G (p.Pro708Ala) n.2706C>G c.1174C>G (p.Pro392Ala) c.664C>G (p.Pro222Ala) c.1120C>G (n.1120C>G) c.2518C>G (p.Pro840Ala) c.2500C>G (p.Pro834Ala)	gnomAD v4
22	g.50720354C>T	CA515259023	SHANK3	c.2122C>T (p.Pro708Ser) n.2706C>T c.1174C>T (p.Pro392Ser) c.664C>T (p.Pro222Ser) c.1120C>T (n.1120C>T) c.2518C>T (p.Pro840Ser) c.2500C>T (p.Pro834Ser)	gnomAD v4
22	g.50720359_50720364dup	CA2657583024	SHANK3	c.2127_2132dup (p.Pro711_Gly712insProPro) n.2711_2716dup c.1179_1184dup (p.Pro395_Gly396insProPro) c.669_674dup (p.Pro225_Gly226insProPro) c.1125_1130dup (n.1125_1130dup) c.2523_2528dup (p.Pro843_Gly844insProPro) c.2505_2510dup (p.Pro837_Gly838insProPro)	gnomAD v4
22	g.50720355C>A	CA515259026	SHANK3	c.2123C>A (p.Pro708Gln) n.2707C>A c.1175C>A (p.Pro392Gln) c.665C>A (p.Pro222Gln) c.1121C>A (n.1121C>A) c.2519C>A (p.Pro840Gln) c.2501C>A (p.Pro834Gln)	dbSNP gnomAD v4
22	g.50720355C=	CA2411007575	SHANK3	c.2123C= (p.Pro708=) n.2707C= c.1175C= (p.Pro392=) c.665C= (p.Pro222=) c.1121C= (n.1121C=) c.2519C= (p.Pro840=) c.2501C= (p.Pro834=)
22	g.50720355C>G	CA515259027	SHANK3	c.2123C>G (p.Pro708Arg) n.2707C>G c.1175C>G (p.Pro392Arg) c.665C>G (p.Pro222Arg) c.1121C>G (n.1121C>G) c.2519C>G (p.Pro840Arg) c.2501C>G (p.Pro834Arg)	gnomAD v4
22	g.50720355C>T	CA515259028	SHANK3	c.2123C>T (p.Pro708Leu) n.2707C>T c.1175C>T (p.Pro392Leu) c.665C>T (p.Pro222Leu) c.1121C>T (n.1121C>T) c.2519C>T (p.Pro840Leu) c.2501C>T (p.Pro834Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720356_50720357del	CA2657583028	SHANK3	c.2124_2125del (p.Pro710AlafsTer?) n.2708_2709del c.1176_1177del (p.Pro394AlafsTer?) c.666_667del (p.Pro224AlafsTer?) c.1122_1123del (n.1122_1123del) c.2520_2521del (p.Pro842AlafsTer?) c.2502_2503del (p.Pro836AlafsTer?)	gnomAD v4
22	g.50720356del	CA2657583029	SHANK3	c.2124del (p.Pro710ArgfsTer?) n.2708del c.1176del (p.Pro394ArgfsTer?) c.666del (p.Pro224ArgfsTer?) c.1122del (n.1122del) c.2520del (p.Pro842ArgfsTer?) c.2502del (p.Pro836ArgfsTer?)	gnomAD v4
22	g.50720356G>A	CA325578056	SHANK3	c.2124G>A (p.Pro708=) n.2708G>A c.1176G>A (p.Pro392=) c.666G>A (p.Pro222=) c.1122G>A (n.1122G>A) c.2520G>A (p.Pro840=) c.2502G>A (p.Pro834=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720356G>C	CA515259029	SHANK3	c.2124G>C (p.Pro708=) n.2708G>C c.1176G>C (p.Pro392=) c.666G>C (p.Pro222=) c.1122G>C (n.1122G>C) c.2520G>C (p.Pro840=) c.2502G>C (p.Pro834=)	gnomAD v4
22	g.50720356G=	CA2411007576	SHANK3	c.2124G= (p.Pro708=) n.2708G= c.1176G= (p.Pro392=) c.666G= (p.Pro222=) c.1122G= (n.1122G=) c.2520G= (p.Pro840=) c.2502G= (p.Pro834=)
22	g.50720356G>T	CA515259030	SHANK3	c.2124G>T (p.Pro708=) n.2708G>T c.1176G>T (p.Pro392=) c.666G>T (p.Pro222=) c.1122G>T (n.1122G>T) c.2520G>T (p.Pro840=) c.2502G>T (p.Pro834=)	gnomAD v4
22	g.50720356_50720357delinsGC	CA2411007577	SHANK3	c.2124_2125delinsGC (p.Pro708=) n.2708_2709delinsGC c.1176_1177delinsGC (p.Pro392=) c.666_667delinsGC (p.Pro222=) c.1122_1123delinsGC (n.1122_1123delinsGC) c.2520_2521delinsGC (p.Pro840=) c.2502_2503delinsGC (p.Pro834=)
22	g.50720357C>A	CA515259034	SHANK3	c.2125C>A (p.Pro709Thr) n.2709C>A c.1177C>A (p.Pro393Thr) c.667C>A (p.Pro223Thr) c.1123C>A (n.1123C>A) c.2521C>A (p.Pro841Thr) c.2503C>A (p.Pro835Thr)	gnomAD v4
22	g.50720357C>G	CA515259031	SHANK3	c.2125C>G (p.Pro709Ala) n.2709C>G c.1177C>G (p.Pro393Ala) c.667C>G (p.Pro223Ala) c.1123C>G (n.1123C>G) c.2521C>G (p.Pro841Ala) c.2503C>G (p.Pro835Ala)
22	g.50720357C>T	CA515259033	SHANK3	c.2125C>T (p.Pro709Ser) n.2709C>T c.1177C>T (p.Pro393Ser) c.667C>T (p.Pro223Ser) c.1123C>T (n.1123C>T) c.2521C>T (p.Pro841Ser) c.2503C>T (p.Pro835Ser)	dbSNP gnomAD v4
22	g.50720361dup	CA2657583031	SHANK3	c.2129dup (p.Pro711AlafsTer?) n.2713dup c.1181dup (p.Pro395AlafsTer?) c.671dup (p.Pro225AlafsTer?) c.1127dup (n.1127dup) c.2525dup (p.Pro843AlafsTer?) c.2507dup (p.Pro837AlafsTer?)	gnomAD v4
22	g.50720361del	CA515259032	SHANK3	c.2129del (p.Pro710ArgfsTer?) n.2713del c.1181del (p.Pro394ArgfsTer?) c.671del (p.Pro224ArgfsTer?) c.1127del (n.1127del) c.2525del (p.Pro842ArgfsTer?) c.2507del (p.Pro836ArgfsTer?)	dbSNP gnomAD v2 gnomAD v4
22	g.50720358C>A	CA515259035	SHANK3	c.2126C>A (p.Pro709His) n.2710C>A c.1178C>A (p.Pro393His) c.668C>A (p.Pro223His) c.1124C>A (n.1124C>A) c.2522C>A (p.Pro841His) c.2504C>A (p.Pro835His)	gnomAD v4
22	g.50720358C>G	CA515259036	SHANK3	c.2126C>G (p.Pro709Arg) n.2710C>G c.1178C>G (p.Pro393Arg) c.668C>G (p.Pro223Arg) c.1124C>G (n.1124C>G) c.2522C>G (p.Pro841Arg) c.2504C>G (p.Pro835Arg)	gnomAD v4
22	g.50720358C>T	CA515259037	SHANK3	c.2126C>T (p.Pro709Leu) n.2710C>T c.1178C>T (p.Pro393Leu) c.668C>T (p.Pro223Leu) c.1124C>T (n.1124C>T) c.2522C>T (p.Pro841Leu) c.2504C>T (p.Pro835Leu)	gnomAD v4
22	g.50720359C>A	CA515259038	SHANK3	c.2127C>A (p.Pro709=) n.2711C>A c.1179C>A (p.Pro393=) c.669C>A (p.Pro223=) c.1125C>A (n.1125C>A) c.2523C>A (p.Pro841=) c.2505C>A (p.Pro835=)	gnomAD v4
22	g.50720359C=	CA2411007578	SHANK3	c.2127C= (p.Pro709=) n.2711C= c.1179C= (p.Pro393=) c.669C= (p.Pro223=) c.1125C= (n.1125C=) c.2523C= (p.Pro841=) c.2505C= (p.Pro835=)
22	g.50720359C>G	CA515259039	SHANK3	c.2127C>G (p.Pro709=) n.2711C>G c.1179C>G (p.Pro393=) c.669C>G (p.Pro223=) c.1125C>G (n.1125C>G) c.2523C>G (p.Pro841=) c.2505C>G (p.Pro835=)	dbSNP gnomAD v4
22	g.50720359C>T	CA515259040	SHANK3	c.2127C>T (p.Pro709=) n.2711C>T c.1179C>T (p.Pro393=) c.669C>T (p.Pro223=) c.1125C>T (n.1125C>T) c.2523C>T (p.Pro841=) c.2505C>T (p.Pro835=)	gnomAD v4
22	g.50720360C>A	CA515259041	SHANK3	c.2128C>A (p.Pro710Thr) n.2712C>A c.1180C>A (p.Pro394Thr) c.670C>A (p.Pro224Thr) c.1126C>A (n.1126C>A) c.2524C>A (p.Pro842Thr) c.2506C>A (p.Pro836Thr)	gnomAD v4
22	g.50720360C>G	CA515259042	SHANK3	c.2128C>G (p.Pro710Ala) n.2712C>G c.1180C>G (p.Pro394Ala) c.670C>G (p.Pro224Ala) c.1126C>G (n.1126C>G) c.2524C>G (p.Pro842Ala) c.2506C>G (p.Pro836Ala)	gnomAD v4
22	g.50720360C>T	CA515259043	SHANK3	c.2128C>T (p.Pro710Ser) n.2712C>T c.1180C>T (p.Pro394Ser) c.670C>T (p.Pro224Ser) c.1126C>T (n.1126C>T) c.2524C>T (p.Pro842Ser) c.2506C>T (p.Pro836Ser)	gnomAD v4
22	g.50720363_50720365del	CA2657583036	SHANK3	c.2131_2133del (p.Pro711del) n.2715_2717del c.1183_1185del (p.Pro395del) c.673_675del (p.Pro225del) c.1129_1131del (n.1129_1131del) c.2527_2529del (p.Pro843del) c.2509_2511del (p.Pro837del)	gnomAD v4
22	g.50720361C>A	CA515259044	SHANK3	c.2129C>A (p.Pro710Gln) n.2713C>A c.1181C>A (p.Pro394Gln) c.671C>A (p.Pro224Gln) c.1127C>A (n.1127C>A) c.2525C>A (p.Pro842Gln) c.2507C>A (p.Pro836Gln)	gnomAD v4
22	g.50720361C>G	CA515259045	SHANK3	c.2129C>G (p.Pro710Arg) n.2713C>G c.1181C>G (p.Pro394Arg) c.671C>G (p.Pro224Arg) c.1127C>G (n.1127C>G) c.2525C>G (p.Pro842Arg) c.2507C>G (p.Pro836Arg)	gnomAD v4
22	g.50720361C>T	CA515259046	SHANK3	c.2129C>T (p.Pro710Leu) n.2713C>T c.1181C>T (p.Pro394Leu) c.671C>T (p.Pro224Leu) c.1127C>T (n.1127C>T) c.2525C>T (p.Pro842Leu) c.2507C>T (p.Pro836Leu)	gnomAD v4
22	g.50720365_50720374del	CA2657583037	SHANK3	c.2133_2142del (p.Gly712ThrfsTer?) n.2717_2726del c.1185_1194del (p.Gly396ThrfsTer?) c.675_684del (p.Gly226ThrfsTer?) c.1131_1140del (n.1131_1140del) c.2529_2538del (p.Gly844ThrfsTer?) c.2511_2520del (p.Gly838ThrfsTer?)	gnomAD v4
22	g.50720361_50720362insT	CA2657583041	SHANK3	c.2129_2130insT (p.Pro711AlafsTer?) n.2713_2714insT c.1181_1182insT (p.Pro395AlafsTer?) c.671_672insT (p.Pro225AlafsTer?) c.1127_1128insT (n.1127_1128insT) c.2525_2526insT (p.Pro843AlafsTer?) c.2507_2508insT (p.Pro837AlafsTer?)	gnomAD v4
22	g.50720362del	CA2657583040	SHANK3	c.2130del (p.Pro711ArgfsTer?) n.2714del c.1182del (p.Pro395ArgfsTer?) c.672del (p.Pro225ArgfsTer?) c.1128del (n.1128del) c.2526del (p.Pro843ArgfsTer?) c.2508del (p.Pro837ArgfsTer?)	gnomAD v4
22	g.50720362G>A	CA515259047	SHANK3	c.2130G>A (p.Pro710=) n.2714G>A c.1182G>A (p.Pro394=) c.672G>A (p.Pro224=) c.1128G>A (n.1128G>A) c.2526G>A (p.Pro842=) c.2508G>A (p.Pro836=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720362G>C	CA515259049	SHANK3	c.2130G>C (p.Pro710=) n.2714G>C c.1182G>C (p.Pro394=) c.672G>C (p.Pro224=) c.1128G>C (n.1128G>C) c.2526G>C (p.Pro842=) c.2508G>C (p.Pro836=)	dbSNP gnomAD v4
22	g.50720362G=	CA2411007579	SHANK3	c.2130G= (p.Pro710=) n.2714G= c.1182G= (p.Pro394=) c.672G= (p.Pro224=) c.1128G= (n.1128G=) c.2526G= (p.Pro842=) c.2508G= (p.Pro836=)
22	g.50720362G>T	CA515259048	SHANK3	c.2130G>T (p.Pro710=) n.2714G>T c.1182G>T (p.Pro394=) c.672G>T (p.Pro224=) c.1128G>T (n.1128G>T) c.2526G>T (p.Pro842=) c.2508G>T (p.Pro836=)	gnomAD v4
22	g.50720363C>A	CA515259050	SHANK3	c.2131C>A (p.Pro711Thr) n.2715C>A c.1183C>A (p.Pro395Thr) c.673C>A (p.Pro225Thr) c.1129C>A (n.1129C>A) c.2527C>A (p.Pro843Thr) c.2509C>A (p.Pro837Thr)	gnomAD v4
22	g.50720363C>G	CA515259051	SHANK3	c.2131C>G (p.Pro711Ala) n.2715C>G c.1183C>G (p.Pro395Ala) c.673C>G (p.Pro225Ala) c.1129C>G (n.1129C>G) c.2527C>G (p.Pro843Ala) c.2509C>G (p.Pro837Ala)	gnomAD v4
22	g.50720363C>T	CA515259052	SHANK3	c.2131C>T (p.Pro711Ser) n.2715C>T c.1183C>T (p.Pro395Ser) c.673C>T (p.Pro225Ser) c.1129C>T (n.1129C>T) c.2527C>T (p.Pro843Ser) c.2509C>T (p.Pro837Ser)	gnomAD v4
22	g.50720364C>A	CA515259053	SHANK3	c.2132C>A (p.Pro711Gln) n.2716C>A c.1184C>A (p.Pro395Gln) c.674C>A (p.Pro225Gln) c.1130C>A (n.1130C>A) c.2528C>A (p.Pro843Gln) c.2510C>A (p.Pro837Gln)	gnomAD v4
22	g.50720364C>G	CA515259054	SHANK3	c.2132C>G (p.Pro711Arg) n.2716C>G c.1184C>G (p.Pro395Arg) c.674C>G (p.Pro225Arg) c.1130C>G (n.1130C>G) c.2528C>G (p.Pro843Arg) c.2510C>G (p.Pro837Arg)	gnomAD v4
22	g.50720364C>T	CA515259055	SHANK3	c.2132C>T (p.Pro711Leu) n.2716C>T c.1184C>T (p.Pro395Leu) c.674C>T (p.Pro225Leu) c.1130C>T (n.1130C>T) c.2528C>T (p.Pro843Leu) c.2510C>T (p.Pro837Leu)	gnomAD v4
22	g.50720365G>A	CA515259056	SHANK3	c.2133G>A (p.Pro711=) n.2717G>A c.1185G>A (p.Pro395=) c.675G>A (p.Pro225=) c.1131G>A (n.1131G>A) c.2529G>A (p.Pro843=) c.2511G>A (p.Pro837=)	gnomAD v4
22	g.50720365G>C	CA515259057	SHANK3	c.2133G>C (p.Pro711=) n.2717G>C c.1185G>C (p.Pro395=) c.675G>C (p.Pro225=) c.1131G>C (n.1131G>C) c.2529G>C (p.Pro843=) c.2511G>C (p.Pro837=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720365G=	CA2411007580	SHANK3	c.2133G= (p.Pro711=) n.2717G= c.1185G= (p.Pro395=) c.675G= (p.Pro225=) c.1131G= (n.1131G=) c.2529G= (p.Pro843=) c.2511G= (p.Pro837=)
22	g.50720365G>T	CA515259058	SHANK3	c.2133G>T (p.Pro711=) n.2717G>T c.1185G>T (p.Pro395=) c.675G>T (p.Pro225=) c.1131G>T (n.1131G>T) c.2529G>T (p.Pro843=) c.2511G>T (p.Pro837=)	gnomAD v4
22	g.50720367del	CA2657583042	SHANK3	c.2135del (p.Gly712AlafsTer?) n.2719del c.1187del (p.Gly396AlafsTer?) c.677del (p.Gly226AlafsTer?) c.1133del (n.1133del) c.2531del (p.Gly844AlafsTer?) c.2513del (p.Gly838AlafsTer?)	gnomAD v4
22	g.50720366G>A	CA515259059	SHANK3	c.2134G>A (p.Gly712Ser) n.2718G>A c.1186G>A (p.Gly396Ser) c.676G>A (p.Gly226Ser) c.1132G>A (n.1132G>A) c.2530G>A (p.Gly844Ser) c.2512G>A (p.Gly838Ser)	gnomAD v4
22	g.50720366G>C	CA515259060	SHANK3	c.2134G>C (p.Gly712Arg) n.2718G>C c.1186G>C (p.Gly396Arg) c.676G>C (p.Gly226Arg) c.1132G>C (n.1132G>C) c.2530G>C (p.Gly844Arg) c.2512G>C (p.Gly838Arg)	gnomAD v4
22	g.50720366G>T	CA515259061	SHANK3	c.2134G>T (p.Gly712Cys) n.2718G>T c.1186G>T (p.Gly396Cys) c.676G>T (p.Gly226Cys) c.1132G>T (n.1132G>T) c.2530G>T (p.Gly844Cys) c.2512G>T (p.Gly838Cys)	gnomAD v4
22	g.50720367G>A	CA515259063	SHANK3	c.2135G>A (p.Gly712Asp) n.2719G>A c.1187G>A (p.Gly396Asp) c.677G>A (p.Gly226Asp) c.1133G>A (n.1133G>A) c.2531G>A (p.Gly844Asp) c.2513G>A (p.Gly838Asp)	dbSNP gnomAD v2 gnomAD v4
22	g.50720367G>C	CA325578060	SHANK3	c.2135G>C (p.Gly712Ala) n.2719G>C c.1187G>C (p.Gly396Ala) c.677G>C (p.Gly226Ala) c.1133G>C (n.1133G>C) c.2531G>C (p.Gly844Ala) c.2513G>C (p.Gly838Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.50720367G=	CA2411007581	SHANK3	c.2135G= (p.Gly712=) n.2719G= c.1187G= (p.Gly396=) c.677G= (p.Gly226=) c.1133G= (n.1133G=) c.2531G= (p.Gly844=) c.2513G= (p.Gly838=)
22	g.50720367G>T	CA515259062	SHANK3	c.2135G>T (p.Gly712Val) n.2719G>T c.1187G>T (p.Gly396Val) c.677G>T (p.Gly226Val) c.1133G>T (n.1133G>T) c.2531G>T (p.Gly844Val) c.2513G>T (p.Gly838Val)	gnomAD v4
22	g.50720368C>A	CA515259064	SHANK3	c.2136C>A (p.Gly712=) n.2720C>A c.1188C>A (p.Gly396=) c.678C>A (p.Gly226=) c.1134C>A (n.1134C>A) c.2532C>A (p.Gly844=) c.2514C>A (p.Gly838=)	gnomAD v4
22	g.50720368C>G	CA515259065	SHANK3	c.2136C>G (p.Gly712=) n.2720C>G c.1188C>G (p.Gly396=) c.678C>G (p.Gly226=) c.1134C>G (n.1134C>G) c.2532C>G (p.Gly844=) c.2514C>G (p.Gly838=)	gnomAD v4
22	g.50720368C>T	CA515259066	SHANK3	c.2136C>T (p.Gly712=) n.2720C>T c.1188C>T (p.Gly396=) c.678C>T (p.Gly226=) c.1134C>T (n.1134C>T) c.2532C>T (p.Gly844=) c.2514C>T (p.Gly838=)	gnomAD v4
22	g.50720369C>A	CA515259067	SHANK3	c.2137C>A (p.Arg713Ser) n.2721C>A c.1189C>A (p.Arg397Ser) c.679C>A (p.Arg227Ser) c.1135C>A (n.1135C>A) c.2533C>A (p.Arg845Ser) c.2515C>A (p.Arg839Ser)	gnomAD v4
22	g.50720369C=	CA2411007582	SHANK3	c.2137C= (p.Arg713=) n.2721C= c.1189C= (p.Arg397=) c.679C= (p.Arg227=) c.1135C= (n.1135C=) c.2533C= (p.Arg845=) c.2515C= (p.Arg839=)
22	g.50720369C>G	CA515259068	SHANK3	c.2137C>G (p.Arg713Gly) n.2721C>G c.1189C>G (p.Arg397Gly) c.679C>G (p.Arg227Gly) c.1135C>G (n.1135C>G) c.2533C>G (p.Arg845Gly) c.2515C>G (p.Arg839Gly)
22	g.50720369C>T	CA515259069	SHANK3	c.2137C>T (p.Arg713Cys) n.2721C>T c.1189C>T (p.Arg397Cys) c.679C>T (p.Arg227Cys) c.1135C>T (n.1135C>T) c.2533C>T (p.Arg845Cys) c.2515C>T (p.Arg839Cys)	dbSNP gnomAD v4
22	g.50720370del	CA2819315429	SHANK3	c.2138del (p.Arg713ProfsTer?) n.2722del c.1190del (p.Arg397ProfsTer?) c.680del (p.Arg227ProfsTer?) c.1136del (n.1136del) c.2534del (p.Arg845ProfsTer?) c.2516del (p.Arg839ProfsTer?)
22	g.50720370G>A	CA515259070	SHANK3	c.2138G>A (p.Arg713His) n.2722G>A c.1190G>A (p.Arg397His) c.680G>A (p.Arg227His) c.1136G>A (n.1136G>A) c.2534G>A (p.Arg845His) c.2516G>A (p.Arg839His)	dbSNP gnomAD v3 gnomAD v4
22	g.50720370G>C	CA515259071	SHANK3	c.2138G>C (p.Arg713Pro) n.2722G>C c.1190G>C (p.Arg397Pro) c.680G>C (p.Arg227Pro) c.1136G>C (n.1136G>C) c.2534G>C (p.Arg845Pro) c.2516G>C (p.Arg839Pro)	gnomAD v4
22	g.50720370G=	CA2411007583	SHANK3	c.2138G= (p.Arg713=) n.2722G= c.1190G= (p.Arg397=) c.680G= (p.Arg227=) c.1136G= (n.1136G=) c.2534G= (p.Arg845=) c.2516G= (p.Arg839=)
22	g.50720370G>T	CA515259072	SHANK3	c.2138G>T (p.Arg713Leu) n.2722G>T c.1190G>T (p.Arg397Leu) c.680G>T (p.Arg227Leu) c.1136G>T (n.1136G>T) c.2534G>T (p.Arg845Leu) c.2516G>T (p.Arg839Leu)	dbSNP gnomAD v4
22	g.50720371C>A	CA515259073	SHANK3	c.2139C>A (p.Arg713=) n.2723C>A c.1191C>A (p.Arg397=) c.681C>A (p.Arg227=) c.1137C>A (n.1137C>A) c.2535C>A (p.Arg845=) c.2517C>A (p.Arg839=)	gnomAD v4
22	g.50720371C>G	CA515259074	SHANK3	c.2139C>G (p.Arg713=) n.2723C>G c.1191C>G (p.Arg397=) c.681C>G (p.Arg227=) c.1137C>G (n.1137C>G) c.2535C>G (p.Arg845=) c.2517C>G (p.Arg839=)
22	g.50720371C>T	CA515259075	SHANK3	c.2139C>T (p.Arg713=) n.2723C>T c.1191C>T (p.Arg397=) c.681C>T (p.Arg227=) c.1137C>T (n.1137C>T) c.2535C>T (p.Arg845=) c.2517C>T (p.Arg839=)	gnomAD v4
22	g.50720372G>A	CA515259077	SHANK3	c.2140G>A (p.Ala714Thr) n.2724G>A c.1192G>A (p.Ala398Thr) c.682G>A (p.Ala228Thr) c.1138G>A (n.1138G>A) c.2536G>A (p.Ala846Thr) c.2518G>A (p.Ala840Thr)	dbSNP gnomAD v4
22	g.50720372G>C	CA515259078	SHANK3	c.2140G>C (p.Ala714Pro) n.2724G>C c.1192G>C (p.Ala398Pro) c.682G>C (p.Ala228Pro) c.1138G>C (n.1138G>C) c.2536G>C (p.Ala846Pro) c.2518G>C (p.Ala840Pro)	gnomAD v4
22	g.50720372G=	CA2411007584	SHANK3	c.2140G= (p.Ala714=) n.2724G= c.1192G= (p.Ala398=) c.682G= (p.Ala228=) c.1138G= (n.1138G=) c.2536G= (p.Ala846=) c.2518G= (p.Ala840=)
22	g.50720372G>T	CA515259076	SHANK3	c.2140G>T (p.Ala714Ser) n.2724G>T c.1192G>T (p.Ala398Ser) c.682G>T (p.Ala228Ser) c.1138G>T (n.1138G>T) c.2536G>T (p.Ala846Ser) c.2518G>T (p.Ala840Ser)	gnomAD v4
22	g.50720373C>A	CA515259079	SHANK3	c.2141C>A (p.Ala714Asp) n.2725C>A c.1193C>A (p.Ala398Asp) c.683C>A (p.Ala228Asp) c.1139C>A (n.1139C>A) c.2537C>A (p.Ala846Asp) c.2519C>A (p.Ala840Asp)	gnomAD v4
22	g.50720373C=	CA2411007585	SHANK3	c.2141C= (p.Ala714=) n.2725C= c.1193C= (p.Ala398=) c.683C= (p.Ala228=) c.1139C= (n.1139C=) c.2537C= (p.Ala846=) c.2519C= (p.Ala840=)
22	g.50720373C>G	CA515259081	SHANK3	c.2141C>G (p.Ala714Gly) n.2725C>G c.1193C>G (p.Ala398Gly) c.683C>G (p.Ala228Gly) c.1139C>G (n.1139C>G) c.2537C>G (p.Ala846Gly) c.2519C>G (p.Ala840Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720373C>T	CA515259080	SHANK3	c.2141C>T (p.Ala714Val) n.2725C>T c.1193C>T (p.Ala398Val) c.683C>T (p.Ala228Val) c.1139C>T (n.1139C>T) c.2537C>T (p.Ala846Val) c.2519C>T (p.Ala840Val)	dbSNP gnomAD v4
22	g.50720374C>A	CA515259082	SHANK3	c.2142C>A (p.Ala714=) n.2726C>A c.1194C>A (p.Ala398=) c.684C>A (p.Ala228=) c.1140C>A (n.1140C>A) c.2538C>A (p.Ala846=) c.2520C>A (p.Ala840=)	gnomAD v4
22	g.50720374C>G	CA515259083	SHANK3	c.2142C>G (p.Ala714=) n.2726C>G c.1194C>G (p.Ala398=) c.684C>G (p.Ala228=) c.1140C>G (n.1140C>G) c.2538C>G (p.Ala846=) c.2520C>G (p.Ala840=)	gnomAD v4
22	g.50720374C>T	CA515259084	SHANK3	c.2142C>T (p.Ala714=) n.2726C>T c.1194C>T (p.Ala398=) c.684C>T (p.Ala228=) c.1140C>T (n.1140C>T) c.2538C>T (p.Ala846=) c.2520C>T (p.Ala840=)	gnomAD v4
22	g.50720375T>A	CA515259085	SHANK3	c.2143T>A (p.Tyr715Asn) n.2727T>A c.1195T>A (p.Tyr399Asn) c.685T>A (p.Tyr229Asn) c.1141T>A (n.1141T>A) c.2539T>A (p.Tyr847Asn) c.2521T>A (p.Tyr841Asn)	gnomAD v4
22	g.50720375T>C	CA515259086	SHANK3	c.2143T>C (p.Tyr715His) n.2727T>C c.1195T>C (p.Tyr399His) c.685T>C (p.Tyr229His) c.1141T>C (n.1141T>C) c.2539T>C (p.Tyr847His) c.2521T>C (p.Tyr841His)	gnomAD v4
22	g.50720375T>G	CA515259087	SHANK3	c.2143T>G (p.Tyr715Asp) n.2727T>G c.1195T>G (p.Tyr399Asp) c.685T>G (p.Tyr229Asp) c.1141T>G (n.1141T>G) c.2539T>G (p.Tyr847Asp) c.2521T>G (p.Tyr841Asp)
22	g.50720375_50720378delinsTACG	CA2411007586	SHANK3	c.2143_2146delinsTACG (p.Tyr715=) n.2727_2730delinsTACG c.1195_1198delinsTACG (p.Tyr399=) c.685_688delinsTACG (p.Tyr229=) c.1141_1144delinsTACG (n.1141_1144delinsTACG) c.2539_2542delinsTACG (p.Tyr847=) c.2521_2524delinsTACG (p.Tyr841=)
22	g.50720376A>C	CA515259090	SHANK3	c.2144A>C (p.Tyr715Ser) n.2728A>C c.1196A>C (p.Tyr399Ser) c.686A>C (p.Tyr229Ser) c.1142A>C (n.1142A>C) c.2540A>C (p.Tyr847Ser) c.2522A>C (p.Tyr841Ser)
22	g.50720376A>G	CA515259089	SHANK3	c.2144A>G (p.Tyr715Cys) n.2728A>G c.1196A>G (p.Tyr399Cys) c.686A>G (p.Tyr229Cys) c.1142A>G (n.1142A>G) c.2540A>G (p.Tyr847Cys) c.2522A>G (p.Tyr841Cys)	ClinVar gnomAD v4
22	g.50720376A>T	CA515259088	SHANK3	c.2144A>T (p.Tyr715Phe) n.2728A>T c.1196A>T (p.Tyr399Phe) c.686A>T (p.Tyr229Phe) c.1142A>T (n.1142A>T) c.2540A>T (p.Tyr847Phe) c.2522A>T (p.Tyr841Phe)
22	g.50720378_50720380del	CA1026671848	SHANK3	c.2146_2148del (p.Asp716del) n.2730_2732del c.1198_1200del (p.Asp400del) c.688_690del (p.Asp230del) c.1144_1146del (n.1144_1146del) c.2542_2544del (p.Asp848del) c.2524_2526del (p.Asp842del)	dbSNP gnomAD v3 gnomAD v4
22	g.50720377C>A	CA515259091	SHANK3	c.2145C>A (p.Tyr715Ter) n.2729C>A c.1197C>A (p.Tyr399Ter) c.687C>A (p.Tyr229Ter) c.1143C>A (n.1143C>A) c.2541C>A (p.Tyr847Ter) c.2523C>A (p.Tyr841Ter)	gnomAD v4
22	g.50720377C=	CA2411007587	SHANK3	c.2145C= (p.Tyr715=) n.2729C= c.1197C= (p.Tyr399=) c.687C= (p.Tyr229=) c.1143C= (n.1143C=) c.2541C= (p.Tyr847=) c.2523C= (p.Tyr841=)
22	g.50720377C>G	CA515259092	SHANK3	c.2145C>G (p.Tyr715Ter) n.2729C>G c.1197C>G (p.Tyr399Ter) c.687C>G (p.Tyr229Ter) c.1143C>G (n.1143C>G) c.2541C>G (p.Tyr847Ter) c.2523C>G (p.Tyr841Ter)	ClinVar dbSNP gnomAD v4
22	g.50720377C>T	CA515259093	SHANK3	c.2145C>T (p.Tyr715=) n.2729C>T c.1197C>T (p.Tyr399=) c.687C>T (p.Tyr229=) c.1143C>T (n.1143C>T) c.2541C>T (p.Tyr847=) c.2523C>T (p.Tyr841=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720378G>A	CA515259094	SHANK3	c.2146G>A (p.Asp716Asn) n.2730G>A c.1198G>A (p.Asp400Asn) c.688G>A (p.Asp230Asn) c.1144G>A (n.1144G>A) c.2542G>A (p.Asp848Asn) c.2524G>A (p.Asp842Asn)	gnomAD v4
22	g.50720378G>C	CA515259095	SHANK3	c.2146G>C (p.Asp716His) n.2730G>C c.1198G>C (p.Asp400His) c.688G>C (p.Asp230His) c.1144G>C (n.1144G>C) c.2542G>C (p.Asp848His) c.2524G>C (p.Asp842His)	gnomAD v4
22	g.50720378G>T	CA515259096	SHANK3	c.2146G>T (p.Asp716Tyr) n.2730G>T c.1198G>T (p.Asp400Tyr) c.688G>T (p.Asp230Tyr) c.1144G>T (n.1144G>T) c.2542G>T (p.Asp848Tyr) c.2524G>T (p.Asp842Tyr)	gnomAD v4
22	g.50720378dup	CA2819315440	SHANK3	c.2146dup (p.Asp716GlyfsTer?) n.2730dup c.1198dup (p.Asp400GlyfsTer?) c.688dup (p.Asp230GlyfsTer?) c.1144dup (n.1144dup) c.2542dup (p.Asp848GlyfsTer?) c.2524dup (p.Asp842GlyfsTer?)
22	g.50720379A=	CA2411007588	SHANK3	c.2147A= (p.Asp716=) n.2731A= c.1199A= (p.Asp400=) c.689A= (p.Asp230=) c.1145A= (n.1145A=) c.2543A= (p.Asp848=) c.2525A= (p.Asp842=)
22	g.50720379A>C	CA515259097	SHANK3	c.2147A>C (p.Asp716Ala) n.2731A>C c.1199A>C (p.Asp400Ala) c.689A>C (p.Asp230Ala) c.1145A>C (n.1145A>C) c.2543A>C (p.Asp848Ala) c.2525A>C (p.Asp842Ala)
22	g.50720379A>G	CA515259099	SHANK3	c.2147A>G (p.Asp716Gly) n.2731A>G c.1199A>G (p.Asp400Gly) c.689A>G (p.Asp230Gly) c.1145A>G (n.1145A>G) c.2543A>G (p.Asp848Gly) c.2525A>G (p.Asp842Gly)	dbSNP gnomAD v4
22	g.50720379A>T	CA515259098	SHANK3	c.2147A>T (p.Asp716Val) n.2731A>T c.1199A>T (p.Asp400Val) c.689A>T (p.Asp230Val) c.1145A>T (n.1145A>T) c.2543A>T (p.Asp848Val) c.2525A>T (p.Asp842Val)	gnomAD v4
22	g.50720380C>A	CA515259100	SHANK3	c.2148C>A (p.Asp716Glu) n.2732C>A c.1200C>A (p.Asp400Glu) c.690C>A (p.Asp230Glu) c.1146C>A (n.1146C>A) c.2544C>A (p.Asp848Glu) c.2526C>A (p.Asp842Glu)	gnomAD v4
22	g.50720380C>G	CA515259101	SHANK3	c.2148C>G (p.Asp716Glu) n.2732C>G c.1200C>G (p.Asp400Glu) c.690C>G (p.Asp230Glu) c.1146C>G (n.1146C>G) c.2544C>G (p.Asp848Glu) c.2526C>G (p.Asp842Glu)	gnomAD v4
22	g.50720380C>T	CA515259102	SHANK3	c.2148C>T (p.Asp716=) n.2732C>T c.1200C>T (p.Asp400=) c.690C>T (p.Asp230=) c.1146C>T (n.1146C>T) c.2544C>T (p.Asp848=) c.2526C>T (p.Asp842=)	gnomAD v4
22	g.50720381A>C	CA515259103	SHANK3	c.2149A>C (p.Thr717Pro) n.2733A>C c.1201A>C (p.Thr401Pro) c.691A>C (p.Thr231Pro) c.1147A>C (n.1147A>C) c.2545A>C (p.Thr849Pro) c.2527A>C (p.Thr843Pro)	gnomAD v4
22	g.50720381A>G	CA515259104	SHANK3	c.2149A>G (p.Thr717Ala) n.2733A>G c.1201A>G (p.Thr401Ala) c.691A>G (p.Thr231Ala) c.1147A>G (n.1147A>G) c.2545A>G (p.Thr849Ala) c.2527A>G (p.Thr843Ala)	gnomAD v4
22	g.50720381A>T	CA515259105	SHANK3	c.2149A>T (p.Thr717Ser) n.2733A>T c.1201A>T (p.Thr401Ser) c.691A>T (p.Thr231Ser) c.1147A>T (n.1147A>T) c.2545A>T (p.Thr849Ser) c.2527A>T (p.Thr843Ser)	gnomAD v4
22	g.50720382C>A	CA515259106	SHANK3	c.2150C>A (p.Thr717Lys) n.2734C>A c.1202C>A (p.Thr401Lys) c.692C>A (p.Thr231Lys) c.1148C>A (n.1148C>A) c.2546C>A (p.Thr849Lys) c.2528C>A (p.Thr843Lys)	gnomAD v4
22	g.50720382C>G	CA515259107	SHANK3	c.2150C>G (p.Thr717Arg) n.2734C>G c.1202C>G (p.Thr401Arg) c.692C>G (p.Thr231Arg) c.1148C>G (n.1148C>G) c.2546C>G (p.Thr849Arg) c.2528C>G (p.Thr843Arg)
22	g.50720382C>T	CA515259108	SHANK3	c.2150C>T (p.Thr717Met) n.2734C>T c.1202C>T (p.Thr401Met) c.692C>T (p.Thr231Met) c.1148C>T (n.1148C>T) c.2546C>T (p.Thr849Met) c.2528C>T (p.Thr843Met)	gnomAD v4
22	g.50720383G>A	CA515259109	SHANK3	c.2151G>A (p.Thr717=) n.2735G>A c.1203G>A (p.Thr401=) c.693G>A (p.Thr231=) c.1149G>A (n.1149G>A) c.2547G>A (p.Thr849=) c.2529G>A (p.Thr843=)	gnomAD v4
22	g.50720383G>C	CA515259110	SHANK3	c.2151G>C (p.Thr717=) n.2735G>C c.1203G>C (p.Thr401=) c.693G>C (p.Thr231=) c.1149G>C (n.1149G>C) c.2547G>C (p.Thr849=) c.2529G>C (p.Thr843=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720383G=	CA2411007589	SHANK3	c.2151G= (p.Thr717=) n.2735G= c.1203G= (p.Thr401=) c.693G= (p.Thr231=) c.1149G= (n.1149G=) c.2547G= (p.Thr849=) c.2529G= (p.Thr843=)
22	g.50720383G>T	CA515259111	SHANK3	c.2151G>T (p.Thr717=) n.2735G>T c.1203G>T (p.Thr401=) c.693G>T (p.Thr231=) c.1149G>T (n.1149G>T) c.2547G>T (p.Thr849=) c.2529G>T (p.Thr843=)	gnomAD v4
22	g.50720384G>A	CA515259112	SHANK3	c.2152G>A (p.Val718Met) n.2736G>A c.1204G>A (p.Val402Met) c.694G>A (p.Val232Met) c.1150G>A (n.1150G>A) c.2548G>A (p.Val850Met) c.2530G>A (p.Val844Met)	gnomAD v4
22	g.50720384G>C	CA325578061	SHANK3	c.2152G>C (p.Val718Leu) n.2736G>C c.1204G>C (p.Val402Leu) c.694G>C (p.Val232Leu) c.1150G>C (n.1150G>C) c.2548G>C (p.Val850Leu) c.2530G>C (p.Val844Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720384G=	CA2411007590	SHANK3	c.2152G= (p.Val718=) n.2736G= c.1204G= (p.Val402=) c.694G= (p.Val232=) c.1150G= (n.1150G=) c.2548G= (p.Val850=) c.2530G= (p.Val844=)
22	g.50720384G>T	CA515259113	SHANK3	c.2152G>T (p.Val718Leu) n.2736G>T c.1204G>T (p.Val402Leu) c.694G>T (p.Val232Leu) c.1150G>T (n.1150G>T) c.2548G>T (p.Val850Leu) c.2530G>T (p.Val844Leu)	gnomAD v4
22	g.50720385T>A	CA515259114	SHANK3	c.2153T>A (p.Val718Glu) n.2737T>A c.1205T>A (p.Val402Glu) c.695T>A (p.Val232Glu) c.1151T>A (n.1151T>A) c.2549T>A (p.Val850Glu) c.2531T>A (p.Val844Glu)	gnomAD v4
22	g.50720385T>C	CA515259115	SHANK3	c.2153T>C (p.Val718Ala) n.2737T>C c.1205T>C (p.Val402Ala) c.695T>C (p.Val232Ala) c.1151T>C (n.1151T>C) c.2549T>C (p.Val850Ala) c.2531T>C (p.Val844Ala)	gnomAD v4
22	g.50720385T>G	CA515259116	SHANK3	c.2153T>G (p.Val718Gly) n.2737T>G c.1205T>G (p.Val402Gly) c.695T>G (p.Val232Gly) c.1151T>G (n.1151T>G) c.2549T>G (p.Val850Gly) c.2531T>G (p.Val844Gly)	gnomAD v4
22	g.50720386G>A	CA515259117	SHANK3	c.2154G>A (p.Val718=) n.2738G>A c.1206G>A (p.Val402=) c.696G>A (p.Val232=) c.1152G>A (n.1152G>A) c.2550G>A (p.Val850=) c.2532G>A (p.Val844=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720386G>C	CA515259118	SHANK3	c.2154G>C (p.Val718=) n.2738G>C c.1206G>C (p.Val402=) c.696G>C (p.Val232=) c.1152G>C (n.1152G>C) c.2550G>C (p.Val850=) c.2532G>C (p.Val844=)	gnomAD v4
22	g.50720386G=	CA2411007591	SHANK3	c.2154G= (p.Val718=) n.2738G= c.1206G= (p.Val402=) c.696G= (p.Val232=) c.1152G= (n.1152G=) c.2550G= (p.Val850=) c.2532G= (p.Val844=)
22	g.50720386G>T	CA515259119	SHANK3	c.2154G>T (p.Val718=) n.2738G>T c.1206G>T (p.Val402=) c.696G>T (p.Val232=) c.1152G>T (n.1152G>T) c.2550G>T (p.Val850=) c.2532G>T (p.Val844=)	gnomAD v4
22	g.50720387C>A	CA515259120	SHANK3	c.2155C>A (p.Arg719Ser) n.2739C>A c.1207C>A (p.Arg403Ser) c.697C>A (p.Arg233Ser) c.1153C>A (n.1153C>A) c.2551C>A (p.Arg851Ser) c.2533C>A (p.Arg845Ser)	gnomAD v4
22	g.50720387C>G	CA515259121	SHANK3	c.2155C>G (p.Arg719Gly) n.2739C>G c.1207C>G (p.Arg403Gly) c.697C>G (p.Arg233Gly) c.1153C>G (n.1153C>G) c.2551C>G (p.Arg851Gly) c.2533C>G (p.Arg845Gly)	gnomAD v4
22	g.50720387C>T	CA515259122	SHANK3	c.2155C>T (p.Arg719Cys) n.2739C>T c.1207C>T (p.Arg403Cys) c.697C>T (p.Arg233Cys) c.1153C>T (n.1153C>T) c.2551C>T (p.Arg851Cys) c.2533C>T (p.Arg845Cys)	gnomAD v4
22	g.50720387_50720388insCT	CA2657583087	SHANK3	c.2155_2156insCT (p.Arg719ProfsTer?) n.2739_2740insCT c.1207_1208insCT (p.Arg403ProfsTer?) c.697_698insCT (p.Arg233ProfsTer?) c.1153_1154insCT (n.1153_1154insCT) c.2551_2552insCT (p.Arg851ProfsTer?) c.2533_2534insCT (p.Arg845ProfsTer?)	gnomAD v4
22	g.50720387_50720388insCAGTA	CA2819315456	SHANK3	c.2155_2156insCAGTA (p.Arg719ProfsTer?) n.2739_2740insCAGTA c.1207_1208insCAGTA (p.Arg403ProfsTer?) c.697_698insCAGTA (p.Arg233ProfsTer?) c.1153_1154insCAGTA (n.1153_1154insCAGTA) c.2551_2552insCAGTA (p.Arg851ProfsTer?) c.2533_2534insCAGTA (p.Arg845ProfsTer?)
22	g.50720388G>A	CA515259123	SHANK3	c.2156G>A (p.Arg719His) n.2740G>A c.1208G>A (p.Arg403His) c.698G>A (p.Arg233His) c.1154G>A (n.1154G>A) c.2552G>A (p.Arg851His) c.2534G>A (p.Arg845His)	gnomAD v4
22	g.50720388G>C	CA515259124	SHANK3	c.2156G>C (p.Arg719Pro) n.2740G>C c.1208G>C (p.Arg403Pro) c.698G>C (p.Arg233Pro) c.1154G>C (n.1154G>C) c.2552G>C (p.Arg851Pro) c.2534G>C (p.Arg845Pro)	gnomAD v4
22	g.50720388G=	CA2411007592	SHANK3	c.2156G= (p.Arg719=) n.2740G= c.1208G= (p.Arg403=) c.698G= (p.Arg233=) c.1154G= (n.1154G=) c.2552G= (p.Arg851=) c.2534G= (p.Arg845=)
22	g.50720388G>T	CA515259125	SHANK3	c.2156G>T (p.Arg719Leu) n.2740G>T c.1208G>T (p.Arg403Leu) c.698G>T (p.Arg233Leu) c.1154G>T (n.1154G>T) c.2552G>T (p.Arg851Leu) c.2534G>T (p.Arg845Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720388_50720389insTCTCTTATACACAT	CA2657583090	SHANK3	c.2156_2157insTCTCTTATACACAT (p.Ser720LeufsTer?) n.2740_2741insTCTCTTATACACAT c.1208_1209insTCTCTTATACACAT (p.Ser404LeufsTer?) c.698_699insTCTCTTATACACAT (p.Ser234LeufsTer?) c.1154_1155insTCTCTTATACACAT (n.1154_1155insTCTCTTATACACAT) c.2552_2553insTCTCTTATACACAT (p.Ser852LeufsTer?) c.2534_2535insTCTCTTATACACAT (p.Ser846LeufsTer?)	gnomAD v4
22	g.50720389C>A	CA515259128	SHANK3	c.2157C>A (p.Arg719=) n.2741C>A c.1209C>A (p.Arg403=) c.699C>A (p.Arg233=) c.1155C>A (n.1155C>A) c.2553C>A (p.Arg851=) c.2535C>A (p.Arg845=)	gnomAD v4
22	g.50720389C=	CA2411007593	SHANK3	c.2157C= (p.Arg719=) n.2741C= c.1209C= (p.Arg403=) c.699C= (p.Arg233=) c.1155C= (n.1155C=) c.2553C= (p.Arg851=) c.2535C= (p.Arg845=)
22	g.50720389C>G	CA515259127	SHANK3	c.2157C>G (p.Arg719=) n.2741C>G c.1209C>G (p.Arg403=) c.699C>G (p.Arg233=) c.1155C>G (n.1155C>G) c.2553C>G (p.Arg851=) c.2535C>G (p.Arg845=)	gnomAD v4
22	g.50720389C>T	CA515259126	SHANK3	c.2157C>T (p.Arg719=) n.2741C>T c.1209C>T (p.Arg403=) c.699C>T (p.Arg233=) c.1155C>T (n.1155C>T) c.2553C>T (p.Arg851=) c.2535C>T (p.Arg845=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720390T>A	CA515259129	SHANK3	c.2158T>A (p.Ser720Thr) n.2742T>A c.1210T>A (p.Ser404Thr) c.700T>A (p.Ser234Thr) c.1156T>A (n.1156T>A) c.2554T>A (p.Ser852Thr) c.2536T>A (p.Ser846Thr)	gnomAD v4
22	g.50720390T>C	CA515259130	SHANK3	c.2158T>C (p.Ser720Pro) n.2742T>C c.1210T>C (p.Ser404Pro) c.700T>C (p.Ser234Pro) c.1156T>C (n.1156T>C) c.2554T>C (p.Ser852Pro) c.2536T>C (p.Ser846Pro)	gnomAD v4
22	g.50720390T>G	CA515259131	SHANK3	c.2158T>G (p.Ser720Ala) n.2742T>G c.1210T>G (p.Ser404Ala) c.700T>G (p.Ser234Ala) c.1156T>G (n.1156T>G) c.2554T>G (p.Ser852Ala) c.2536T>G (p.Ser846Ala)
22	g.50720391C>A	CA515259132	SHANK3	c.2159C>A (p.Ser720Tyr) n.2743C>A c.1211C>A (p.Ser404Tyr) c.701C>A (p.Ser234Tyr) c.1157C>A (n.1157C>A) c.2555C>A (p.Ser852Tyr) c.2537C>A (p.Ser846Tyr)	gnomAD v4
22	g.50720391C>G	CA515259133	SHANK3	c.2159C>G (p.Ser720Cys) n.2743C>G c.1211C>G (p.Ser404Cys) c.701C>G (p.Ser234Cys) c.1157C>G (n.1157C>G) c.2555C>G (p.Ser852Cys) c.2537C>G (p.Ser846Cys)	gnomAD v4
22	g.50720391C>T	CA515259134	SHANK3	c.2159C>T (p.Ser720Phe) n.2743C>T c.1211C>T (p.Ser404Phe) c.701C>T (p.Ser234Phe) c.1157C>T (n.1157C>T) c.2555C>T (p.Ser852Phe) c.2537C>T (p.Ser846Phe)	gnomAD v4
22	g.50720392del	CA2657583099	SHANK3	c.2160del (p.Ser721AlafsTer?) n.2744del c.1212del (p.Ser405AlafsTer?) c.702del (p.Ser235AlafsTer?) c.1158del (n.1158del) c.2556del (p.Ser853AlafsTer?) c.2538del (p.Ser847AlafsTer?)	gnomAD v4
22	g.50720392C>A	CA515259135	SHANK3	c.2160C>A (p.Ser720=) n.2744C>A c.1212C>A (p.Ser404=) c.702C>A (p.Ser234=) c.1158C>A (n.1158C>A) c.2556C>A (p.Ser852=) c.2538C>A (p.Ser846=)	gnomAD v4
22	g.50720392C=	CA2411007594	SHANK3	c.2160C= (p.Ser720=) n.2744C= c.1212C= (p.Ser404=) c.702C= (p.Ser234=) c.1158C= (n.1158C=) c.2556C= (p.Ser852=) c.2538C= (p.Ser846=)
22	g.50720392C>G	CA515259136	SHANK3	c.2160C>G (p.Ser720=) n.2744C>G c.1212C>G (p.Ser404=) c.702C>G (p.Ser234=) c.1158C>G (n.1158C>G) c.2556C>G (p.Ser852=) c.2538C>G (p.Ser846=)	gnomAD v4
22	g.50720392C>T	CA325578062	SHANK3	c.2160C>T (p.Ser720=) n.2744C>T c.1212C>T (p.Ser404=) c.702C>T (p.Ser234=) c.1158C>T (n.1158C>T) c.2556C>T (p.Ser852=) c.2538C>T (p.Ser846=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720393A=	CA2411007595	SHANK3	c.2161A= (p.Ser721=) n.2745A= c.1213A= (p.Ser405=) c.703A= (p.Ser235=) c.1159A= (n.1159A=) c.2557A= (p.Ser853=) c.2539A= (p.Ser847=)
22	g.50720393A>C	CA515259137	SHANK3	c.2161A>C (p.Ser721Arg) n.2745A>C c.1213A>C (p.Ser405Arg) c.703A>C (p.Ser235Arg) c.1159A>C (n.1159A>C) c.2557A>C (p.Ser853Arg) c.2539A>C (p.Ser847Arg)	gnomAD v4
22	g.50720393A>G	CA515259138	SHANK3	c.2161A>G (p.Ser721Gly) n.2745A>G c.1213A>G (p.Ser405Gly) c.703A>G (p.Ser235Gly) c.1159A>G (n.1159A>G) c.2557A>G (p.Ser853Gly) c.2539A>G (p.Ser847Gly)	gnomAD v4
22	g.50720393A>T	CA325578064	SHANK3	c.2161A>T (p.Ser721Cys) n.2745A>T c.1213A>T (p.Ser405Cys) c.703A>T (p.Ser235Cys) c.1159A>T (n.1159A>T) c.2557A>T (p.Ser853Cys) c.2539A>T (p.Ser847Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.50720394G>A	CA515259139	SHANK3	c.2162G>A (p.Ser721Asn) n.2746G>A c.1214G>A (p.Ser405Asn) c.704G>A (p.Ser235Asn) c.1160G>A (n.1160G>A) c.2558G>A (p.Ser853Asn) c.2540G>A (p.Ser847Asn)	gnomAD v4
22	g.50720394G>C	CA515259141	SHANK3	c.2162G>C (p.Ser721Thr) n.2746G>C c.1214G>C (p.Ser405Thr) c.704G>C (p.Ser235Thr) c.1160G>C (n.1160G>C) c.2558G>C (p.Ser853Thr) c.2540G>C (p.Ser847Thr)	gnomAD v4
22	g.50720394G>T	CA515259140	SHANK3	c.2162G>T (p.Ser721Ile) n.2746G>T c.1214G>T (p.Ser405Ile) c.704G>T (p.Ser235Ile) c.1160G>T (n.1160G>T) c.2558G>T (p.Ser853Ile) c.2540G>T (p.Ser847Ile)	gnomAD v4
22	g.50720395C>A	CA515259142	SHANK3	c.2163C>A (p.Ser721Arg) n.2747C>A c.1215C>A (p.Ser405Arg) c.705C>A (p.Ser235Arg) c.1161C>A (n.1161C>A) c.2559C>A (p.Ser853Arg) c.2541C>A (p.Ser847Arg)	gnomAD v4
22	g.50720395C=	CA2411007596	SHANK3	c.2163C= (p.Ser721=) n.2747C= c.1215C= (p.Ser405=) c.705C= (p.Ser235=) c.1161C= (n.1161C=) c.2559C= (p.Ser853=) c.2541C= (p.Ser847=)
22	g.50720395C>G	CA515259144	SHANK3	c.2163C>G (p.Ser721Arg) n.2747C>G c.1215C>G (p.Ser405Arg) c.705C>G (p.Ser235Arg) c.1161C>G (n.1161C>G) c.2559C>G (p.Ser853Arg) c.2541C>G (p.Ser847Arg)	gnomAD v4
22	g.50720395C>T	CA515259143	SHANK3	c.2163C>T (p.Ser721=) n.2747C>T c.1215C>T (p.Ser405=) c.705C>T (p.Ser235=) c.1161C>T (n.1161C>T) c.2559C>T (p.Ser853=) c.2541C>T (p.Ser847=)	dbSNP gnomAD v4
22	g.50720396T>A	CA515259145	SHANK3	c.2164T>A (p.Phe722Ile) n.2748T>A c.1216T>A (p.Phe406Ile) c.706T>A (p.Phe236Ile) c.1162T>A (n.1162T>A) c.2560T>A (p.Phe854Ile) c.2542T>A (p.Phe848Ile)	gnomAD v4
22	g.50720396T>C	CA515259146	SHANK3	c.2164T>C (p.Phe722Leu) n.2748T>C c.1216T>C (p.Phe406Leu) c.706T>C (p.Phe236Leu) c.1162T>C (n.1162T>C) c.2560T>C (p.Phe854Leu) c.2542T>C (p.Phe848Leu)	gnomAD v4
22	g.50720396T>G	CA515259147	SHANK3	c.2164T>G (p.Phe722Val) n.2748T>G c.1216T>G (p.Phe406Val) c.706T>G (p.Phe236Val) c.1162T>G (n.1162T>G) c.2560T>G (p.Phe854Val) c.2542T>G (p.Phe848Val)	gnomAD v4
22	g.50720397T>A	CA515259148	SHANK3	c.2165T>A (p.Phe722Tyr) n.2749T>A c.1217T>A (p.Phe406Tyr) c.707T>A (p.Phe236Tyr) c.1163T>A (n.1163T>A) c.2561T>A (p.Phe854Tyr) c.2543T>A (p.Phe848Tyr)
22	g.50720397T>C	CA515259149	SHANK3	c.2165T>C (p.Phe722Ser) n.2749T>C c.1217T>C (p.Phe406Ser) c.707T>C (p.Phe236Ser) c.1163T>C (n.1163T>C) c.2561T>C (p.Phe854Ser) c.2543T>C (p.Phe848Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50720397T>G	CA515259150	SHANK3	c.2165T>G (p.Phe722Cys) n.2749T>G c.1217T>G (p.Phe406Cys) c.707T>G (p.Phe236Cys) c.1163T>G (n.1163T>G) c.2561T>G (p.Phe854Cys) c.2543T>G (p.Phe848Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.50720397T=	CA2411007597	SHANK3	c.2165T= (p.Phe722=) n.2749T= c.1217T= (p.Phe406=) c.707T= (p.Phe236=) c.1163T= (n.1163T=) c.2561T= (p.Phe854=) c.2543T= (p.Phe848=)
22	g.50720398C>A	CA515259151	SHANK3	c.2166C>A (p.Phe722Leu) n.2750C>A c.1218C>A (p.Phe406Leu) c.708C>A (p.Phe236Leu) c.1164C>A (n.1164C>A) c.2562C>A (p.Phe854Leu) c.2544C>A (p.Phe848Leu)	gnomAD v4
22	g.50720398C>G	CA515259152	SHANK3	c.2166C>G (p.Phe722Leu) n.2750C>G c.1218C>G (p.Phe406Leu) c.708C>G (p.Phe236Leu) c.1164C>G (n.1164C>G) c.2562C>G (p.Phe854Leu) c.2544C>G (p.Phe848Leu)	gnomAD v4
22	g.50720398C>T	CA515259153	SHANK3	c.2166C>T (p.Phe722=) n.2750C>T c.1218C>T (p.Phe406=) c.708C>T (p.Phe236=) c.1164C>T (n.1164C>T) c.2562C>T (p.Phe854=) c.2544C>T (p.Phe848=)	ClinVar gnomAD v4
22	g.50720399A>C	CA515259154	SHANK3	c.2167A>C (p.Lys723Gln) n.2751A>C c.1219A>C (p.Lys407Gln) c.709A>C (p.Lys237Gln) c.1165A>C (n.1165A>C) c.2563A>C (p.Lys855Gln) c.2545A>C (p.Lys849Gln)	dbSNP
22	g.50720399A>G	CA515259155	SHANK3	c.2167A>G (p.Lys723Glu) n.2751A>G c.1219A>G (p.Lys407Glu) c.709A>G (p.Lys237Glu) c.1165A>G (n.1165A>G) c.2563A>G (p.Lys855Glu) c.2545A>G (p.Lys849Glu)	gnomAD v4
22	g.50720399A>T	CA515259156	SHANK3	c.2167A>T (p.Lys723Ter) n.2751A>T c.1219A>T (p.Lys407Ter) c.709A>T (p.Lys237Ter) c.1165A>T (n.1165A>T) c.2563A>T (p.Lys855Ter) c.2545A>T (p.Lys849Ter)	gnomAD v4
22	g.50720400A=	CA2411007598	SHANK3	c.2168A= (p.Lys723=) n.2752A= c.1220A= (p.Lys407=) c.710A= (p.Lys237=) c.1166A= (n.1166A=) c.2564A= (p.Lys855=) c.2546A= (p.Lys849=)
22	g.50720400A>C	CA515259157	SHANK3	c.2168A>C (p.Lys723Thr) n.2752A>C c.1220A>C (p.Lys407Thr) c.710A>C (p.Lys237Thr) c.1166A>C (n.1166A>C) c.2564A>C (p.Lys855Thr) c.2546A>C (p.Lys849Thr)	gnomAD v4
22	g.50720400A>G	CA515259159	SHANK3	c.2168A>G (p.Lys723Arg) n.2752A>G c.1220A>G (p.Lys407Arg) c.710A>G (p.Lys237Arg) c.1166A>G (n.1166A>G) c.2564A>G (p.Lys855Arg) c.2546A>G (p.Lys849Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50720400A>T	CA515259158	SHANK3	c.2168A>T (p.Lys723Met) n.2752A>T c.1220A>T (p.Lys407Met) c.710A>T (p.Lys237Met) c.1166A>T (n.1166A>T) c.2564A>T (p.Lys855Met) c.2546A>T (p.Lys849Met)	gnomAD v4
22	g.50720401G>A	CA515259160	SHANK3	c.2169G>A (p.Lys723=) n.2753G>A c.1221G>A (p.Lys407=) c.711G>A (p.Lys237=) c.1167G>A (n.1167G>A) c.2565G>A (p.Lys855=) c.2547G>A (p.Lys849=)	gnomAD v4
22	g.50720401G>C	CA515259161	SHANK3	c.2169G>C (p.Lys723Asn) n.2753G>C c.1221G>C (p.Lys407Asn) c.711G>C (p.Lys237Asn) c.1167G>C (n.1167G>C) c.2565G>C (p.Lys855Asn) c.2547G>C (p.Lys849Asn)
22	g.50720401G=	CA2411007599	SHANK3	c.2169G= (p.Lys723=) n.2753G= c.1221G= (p.Lys407=) c.711G= (p.Lys237=) c.1167G= (n.1167G=) c.2565G= (p.Lys855=) c.2547G= (p.Lys849=)
22	g.50720401G>T	CA515259162	SHANK3	c.2169G>T (p.Lys723Asn) n.2753G>T c.1221G>T (p.Lys407Asn) c.711G>T (p.Lys237Asn) c.1167G>T (n.1167G>T) c.2565G>T (p.Lys855Asn) c.2547G>T (p.Lys849Asn)	dbSNP gnomAD v4
22	g.50720402C>A	CA515259163	SHANK3	c.2170C>A (p.Pro724Thr) n.2754C>A c.1222C>A (p.Pro408Thr) c.712C>A (p.Pro238Thr) c.1168C>A (n.1168C>A) c.2566C>A (p.Pro856Thr) c.2548C>A (p.Pro850Thr)	gnomAD v4
22	g.50720402C>G	CA515259164	SHANK3	c.2170C>G (p.Pro724Ala) n.2754C>G c.1222C>G (p.Pro408Ala) c.712C>G (p.Pro238Ala) c.1168C>G (n.1168C>G) c.2566C>G (p.Pro856Ala) c.2548C>G (p.Pro850Ala)
22	g.50720402C>T	CA515259165	SHANK3	c.2170C>T (p.Pro724Ser) n.2754C>T c.1222C>T (p.Pro408Ser) c.712C>T (p.Pro238Ser) c.1168C>T (n.1168C>T) c.2566C>T (p.Pro856Ser) c.2548C>T (p.Pro850Ser)	gnomAD v4
22	g.50720404del	CA2657583119	SHANK3	c.2172del (p.Gly725AlafsTer?) n.2756del c.1224del (p.Gly409AlafsTer?) c.714del (p.Gly239AlafsTer?) c.1170del (n.1170del) c.2568del (p.Gly857AlafsTer?) c.2550del (p.Gly851AlafsTer?)	gnomAD v4
22	g.50720403C>A	CA515259166	SHANK3	c.2171C>A (p.Pro724His) n.2755C>A c.1223C>A (p.Pro408His) c.713C>A (p.Pro238His) c.1169C>A (n.1169C>A) c.2567C>A (p.Pro856His) c.2549C>A (p.Pro850His)	gnomAD v4
22	g.50720403C=	CA2411007600	SHANK3	c.2171C= (p.Pro724=) n.2755C= c.1223C= (p.Pro408=) c.713C= (p.Pro238=) c.1169C= (n.1169C=) c.2567C= (p.Pro856=) c.2549C= (p.Pro850=)
22	g.50720403C>G	CA515259167	SHANK3	c.2171C>G (p.Pro724Arg) n.2755C>G c.1223C>G (p.Pro408Arg) c.713C>G (p.Pro238Arg) c.1169C>G (n.1169C>G) c.2567C>G (p.Pro856Arg) c.2549C>G (p.Pro850Arg)	dbSNP
22	g.50720403C>T	CA515259168	SHANK3	c.2171C>T (p.Pro724Leu) n.2755C>T c.1223C>T (p.Pro408Leu) c.713C>T (p.Pro238Leu) c.1169C>T (n.1169C>T) c.2567C>T (p.Pro856Leu) c.2549C>T (p.Pro850Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720404C>A	CA515259171	SHANK3	c.2172C>A (p.Pro724=) n.2756C>A c.1224C>A (p.Pro408=) c.714C>A (p.Pro238=) c.1170C>A (n.1170C>A) c.2568C>A (p.Pro856=) c.2550C>A (p.Pro850=)	gnomAD v4
22	g.50720404C>G	CA515259170	SHANK3	c.2172C>G (p.Pro724=) n.2756C>G c.1224C>G (p.Pro408=) c.714C>G (p.Pro238=) c.1170C>G (n.1170C>G) c.2568C>G (p.Pro856=) c.2550C>G (p.Pro850=)	gnomAD v4
22	g.50720404C>T	CA515259169	SHANK3	c.2172C>T (p.Pro724=) n.2756C>T c.1224C>T (p.Pro408=) c.714C>T (p.Pro238=) c.1170C>T (n.1170C>T) c.2568C>T (p.Pro856=) c.2550C>T (p.Pro850=)	gnomAD v4
22	g.50720405G>A	CA515259172	SHANK3	c.2173G>A (p.Gly725Ser) n.2757G>A c.1225G>A (p.Gly409Ser) c.715G>A (p.Gly239Ser) c.1171G>A (n.1171G>A) c.2569G>A (p.Gly857Ser) c.2551G>A (p.Gly851Ser)	dbSNP gnomAD v4
22	g.50720405G>C	CA515259173	SHANK3	c.2173G>C (p.Gly725Arg) n.2757G>C c.1225G>C (p.Gly409Arg) c.715G>C (p.Gly239Arg) c.1171G>C (n.1171G>C) c.2569G>C (p.Gly857Arg) c.2551G>C (p.Gly851Arg)	gnomAD v4
22	g.50720405G=	CA2411007601	SHANK3	c.2173G= (p.Gly725=) n.2757G= c.1225G= (p.Gly409=) c.715G= (p.Gly239=) c.1171G= (n.1171G=) c.2569G= (p.Gly857=) c.2551G= (p.Gly851=)
22	g.50720405G>T	CA515259174	SHANK3	c.2173G>T (p.Gly725Cys) n.2757G>T c.1225G>T (p.Gly409Cys) c.715G>T (p.Gly239Cys) c.1171G>T (n.1171G>T) c.2569G>T (p.Gly857Cys) c.2551G>T (p.Gly851Cys)	gnomAD v4
22	g.50720405_50720406del	CA2657583122	SHANK3	c.2173_2174del (p.Gly725ProfsTer?) n.2757_2758del c.1225_1226del (p.Gly409ProfsTer?) c.715_716del (p.Gly239ProfsTer?) c.1171_1172del (n.1171_1172del) c.2569_2570del (p.Gly857ProfsTer?) c.2551_2552del (p.Gly851ProfsTer?)	gnomAD v4
22	g.50720406G>A	CA515259175	SHANK3	c.2174G>A (p.Gly725Asp) n.2758G>A c.1226G>A (p.Gly409Asp) c.716G>A (p.Gly239Asp) c.1172G>A (n.1172G>A) c.2570G>A (p.Gly857Asp) c.2552G>A (p.Gly851Asp)	gnomAD v4
22	g.50720406G>C	CA515259176	SHANK3	c.2174G>C (p.Gly725Ala) n.2758G>C c.1226G>C (p.Gly409Ala) c.716G>C (p.Gly239Ala) c.1172G>C (n.1172G>C) c.2570G>C (p.Gly857Ala) c.2552G>C (p.Gly851Ala)	gnomAD v4
22	g.50720406G>T	CA515259177	SHANK3	c.2174G>T (p.Gly725Val) n.2758G>T c.1226G>T (p.Gly409Val) c.716G>T (p.Gly239Val) c.1172G>T (n.1172G>T) c.2570G>T (p.Gly857Val) c.2552G>T (p.Gly851Val)	gnomAD v4
22	g.50720407C>A	CA515259178	SHANK3	c.2175C>A (p.Gly725=) n.2759C>A c.1227C>A (p.Gly409=) c.717C>A (p.Gly239=) c.1173C>A (n.1173C>A) c.2571C>A (p.Gly857=) c.2553C>A (p.Gly851=)	gnomAD v4
22	g.50720407C=	CA2411007602	SHANK3	c.2175C= (p.Gly725=) n.2759C= c.1227C= (p.Gly409=) c.717C= (p.Gly239=) c.1173C= (n.1173C=) c.2571C= (p.Gly857=) c.2553C= (p.Gly851=)
22	g.50720407C>G	CA515259179	SHANK3	c.2175C>G (p.Gly725=) n.2759C>G c.1227C>G (p.Gly409=) c.717C>G (p.Gly239=) c.1173C>G (n.1173C>G) c.2571C>G (p.Gly857=) c.2553C>G (p.Gly851=)	gnomAD v4
22	g.50720407C>T	CA325578069	SHANK3	c.2175C>T (p.Gly725=) n.2759C>T c.1227C>T (p.Gly409=) c.717C>T (p.Gly239=) c.1173C>T (n.1173C>T) c.2571C>T (p.Gly857=) c.2553C>T (p.Gly851=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720408del	CA2819315468	SHANK3	c.2176del (p.Leu726TrpfsTer?) n.2760del c.1228del (p.Leu410TrpfsTer?) c.718del (p.Leu240TrpfsTer?) c.1174del (n.1174del) c.2572del (p.Leu858TrpfsTer?) c.2554del (p.Leu852TrpfsTer?)
22	g.50720408C>A	CA515259180	SHANK3	c.2176C>A (p.Leu726Met) n.2760C>A c.1228C>A (p.Leu410Met) c.718C>A (p.Leu240Met) c.1174C>A (n.1174C>A) c.2572C>A (p.Leu858Met) c.2554C>A (p.Leu852Met)	gnomAD v4
22	g.50720408C=	CA2411007603	SHANK3	c.2176C= (p.Leu726=) n.2760C= c.1228C= (p.Leu410=) c.718C= (p.Leu240=) c.1174C= (n.1174C=) c.2572C= (p.Leu858=) c.2554C= (p.Leu852=)
22	g.50720408C>G	CA515259181	SHANK3	c.2176C>G (p.Leu726Val) n.2760C>G c.1228C>G (p.Leu410Val) c.718C>G (p.Leu240Val) c.1174C>G (n.1174C>G) c.2572C>G (p.Leu858Val) c.2554C>G (p.Leu852Val)	gnomAD v4
22	g.50720408C>T	CA515259182	SHANK3	c.2176C>T (p.Leu726=) n.2760C>T c.1228C>T (p.Leu410=) c.718C>T (p.Leu240=) c.1174C>T (n.1174C>T) c.2572C>T (p.Leu858=) c.2554C>T (p.Leu852=)	dbSNP gnomAD v4
22	g.50720409T>A	CA515259185	SHANK3	c.2177T>A (p.Leu726Gln) n.2761T>A c.1229T>A (p.Leu410Gln) c.719T>A (p.Leu240Gln) c.1175T>A (n.1175T>A) c.2573T>A (p.Leu858Gln) c.2555T>A (p.Leu852Gln)	gnomAD v4
22	g.50720409T>C	CA515259183	SHANK3	c.2177T>C (p.Leu726Pro) n.2761T>C c.1229T>C (p.Leu410Pro) c.719T>C (p.Leu240Pro) c.1175T>C (n.1175T>C) c.2573T>C (p.Leu858Pro) c.2555T>C (p.Leu852Pro)	dbSNP gnomAD v3 gnomAD v4
22	g.50720409T>G	CA515259184	SHANK3	c.2177T>G (p.Leu726Arg) n.2761T>G c.1229T>G (p.Leu410Arg) c.719T>G (p.Leu240Arg) c.1175T>G (n.1175T>G) c.2573T>G (p.Leu858Arg) c.2555T>G (p.Leu852Arg)
22	g.50720409T=	CA2411007604	SHANK3	c.2177T= (p.Leu726=) n.2761T= c.1229T= (p.Leu410=) c.719T= (p.Leu240=) c.1175T= (n.1175T=) c.2573T= (p.Leu858=) c.2555T= (p.Leu852=)
22	g.50720410G>A	CA515259186	SHANK3	c.2178G>A (p.Leu726=) n.2762G>A c.1230G>A (p.Leu410=) c.720G>A (p.Leu240=) c.1176G>A (n.1176G>A) c.2574G>A (p.Leu858=) c.2556G>A (p.Leu852=)	gnomAD v4
22	g.50720410G>C	CA515259187	SHANK3	c.2178G>C (p.Leu726=) n.2762G>C c.1230G>C (p.Leu410=) c.720G>C (p.Leu240=) c.1176G>C (n.1176G>C) c.2574G>C (p.Leu858=) c.2556G>C (p.Leu852=)	gnomAD v4
22	g.50720410G>T	CA515259188	SHANK3	c.2178G>T (p.Leu726=) n.2762G>T c.1230G>T (p.Leu410=) c.720G>T (p.Leu240=) c.1176G>T (n.1176G>T) c.2574G>T (p.Leu858=) c.2556G>T (p.Leu852=)	gnomAD v4
22	g.50720411del	CA2657583124	SHANK3	c.2179del (p.Glu727ArgfsTer?) n.2763del c.1231del (p.Glu411ArgfsTer?) c.721del (p.Glu241ArgfsTer?) c.1177del (n.1177del) c.2575del (p.Glu859ArgfsTer?) c.2557del (p.Glu853ArgfsTer?)	gnomAD v4
22	g.50720411G>A	CA515259189	SHANK3	c.2179G>A (p.Glu727Lys) n.2763G>A c.1231G>A (p.Glu411Lys) c.721G>A (p.Glu241Lys) c.1177G>A (n.1177G>A) c.2575G>A (p.Glu859Lys) c.2557G>A (p.Glu853Lys)	gnomAD v4
22	g.50720411G>C	CA515259190	SHANK3	c.2179G>C (p.Glu727Gln) n.2763G>C c.1231G>C (p.Glu411Gln) c.721G>C (p.Glu241Gln) c.1177G>C (n.1177G>C) c.2575G>C (p.Glu859Gln) c.2557G>C (p.Glu853Gln)
22	g.50720411G>T	CA515259191	SHANK3	c.2179G>T (p.Glu727Ter) n.2763G>T c.1231G>T (p.Glu411Ter) c.721G>T (p.Glu241Ter) c.1177G>T (n.1177G>T) c.2575G>T (p.Glu859Ter) c.2557G>T (p.Glu853Ter)	gnomAD v4
22	g.50720412del	CA2657583125	SHANK3	c.2180del (p.Glu727GlyfsTer?) n.2764del c.1232del (p.Glu411GlyfsTer?) c.722del (p.Glu241GlyfsTer?) c.1178del (n.1178del) c.2576del (p.Glu859GlyfsTer?) c.2558del (p.Glu853GlyfsTer?)	gnomAD v4
22	g.50720412A>C	CA515259192	SHANK3	c.2180A>C (p.Glu727Ala) n.2764A>C c.1232A>C (p.Glu411Ala) c.722A>C (p.Glu241Ala) c.1178A>C (n.1178A>C) c.2576A>C (p.Glu859Ala) c.2558A>C (p.Glu853Ala)
22	g.50720412A>G	CA515259193	SHANK3	c.2180A>G (p.Glu727Gly) n.2764A>G c.1232A>G (p.Glu411Gly) c.722A>G (p.Glu241Gly) c.1178A>G (n.1178A>G) c.2576A>G (p.Glu859Gly) c.2558A>G (p.Glu853Gly)	gnomAD v4
22	g.50720412A>T	CA515259194	SHANK3	c.2180A>T (p.Glu727Val) n.2764A>T c.1232A>T (p.Glu411Val) c.722A>T (p.Glu241Val) c.1178A>T (n.1178A>T) c.2576A>T (p.Glu859Val) c.2558A>T (p.Glu853Val)	gnomAD v4
22	g.50720413G>A	CA515259195	SHANK3	c.2181G>A (p.Glu727=) n.2765G>A c.1233G>A (p.Glu411=) c.723G>A (p.Glu241=) c.1179G>A (n.1179G>A) c.2577G>A (p.Glu859=) c.2559G>A (p.Glu853=)	gnomAD v4
22	g.50720413G>C	CA515259196	SHANK3	c.2181G>C (p.Glu727Asp) n.2765G>C c.1233G>C (p.Glu411Asp) c.723G>C (p.Glu241Asp) c.1179G>C (n.1179G>C) c.2577G>C (p.Glu859Asp) c.2559G>C (p.Glu853Asp)
22	g.50720413G>T	CA515259197	SHANK3	c.2181G>T (p.Glu727Asp) n.2765G>T c.1233G>T (p.Glu411Asp) c.723G>T (p.Glu241Asp) c.1179G>T (n.1179G>T) c.2577G>T (p.Glu859Asp) c.2559G>T (p.Glu853Asp)	gnomAD v4
22	g.50720414G>A	CA515259199	SHANK3	c.2182G>A (p.Ala728Thr) n.2766G>A c.1234G>A (p.Ala412Thr) c.724G>A (p.Ala242Thr) c.1180G>A (n.1180G>A) c.2578G>A (p.Ala860Thr) c.2560G>A (p.Ala854Thr)	dbSNP gnomAD v4
22	g.50720414G>C	CA515259200	SHANK3	c.2182G>C (p.Ala728Pro) n.2766G>C c.1234G>C (p.Ala412Pro) c.724G>C (p.Ala242Pro) c.1180G>C (n.1180G>C) c.2578G>C (p.Ala860Pro) c.2560G>C (p.Ala854Pro)	gnomAD v4
22	g.50720414G=	CA2411007605	SHANK3	c.2182G= (p.Ala728=) n.2766G= c.1234G= (p.Ala412=) c.724G= (p.Ala242=) c.1180G= (n.1180G=) c.2578G= (p.Ala860=) c.2560G= (p.Ala854=)
22	g.50720414G>T	CA515259198	SHANK3	c.2182G>T (p.Ala728Ser) n.2766G>T c.1234G>T (p.Ala412Ser) c.724G>T (p.Ala242Ser) c.1180G>T (n.1180G>T) c.2578G>T (p.Ala860Ser) c.2560G>T (p.Ala854Ser)	gnomAD v4
22	g.50720415C>A	CA515259202	SHANK3	c.2183C>A (p.Ala728Glu) n.2767C>A c.1235C>A (p.Ala412Glu) c.725C>A (p.Ala242Glu) c.1181C>A (n.1181C>A) c.2579C>A (p.Ala860Glu) c.2561C>A (p.Ala854Glu)	gnomAD v4
22	g.50720415C>G	CA515259201	SHANK3	c.2183C>G (p.Ala728Gly) n.2767C>G c.1235C>G (p.Ala412Gly) c.725C>G (p.Ala242Gly) c.1181C>G (n.1181C>G) c.2579C>G (p.Ala860Gly) c.2561C>G (p.Ala854Gly)	gnomAD v4
22	g.50720415C>T	CA515259203	SHANK3	c.2183C>T (p.Ala728Val) n.2767C>T c.1235C>T (p.Ala412Val) c.725C>T (p.Ala242Val) c.1181C>T (n.1181C>T) c.2579C>T (p.Ala860Val) c.2561C>T (p.Ala854Val)	gnomAD v4
22	g.50720416G>A	CA515259204	SHANK3	c.2184G>A (p.Ala728=) n.2768G>A c.1236G>A (p.Ala412=) c.726G>A (p.Ala242=) c.1182G>A (n.1182G>A) c.2580G>A (p.Ala860=) c.2562G>A (p.Ala854=)	gnomAD v4
22	g.50720416G>C	CA515259205	SHANK3	c.2184G>C (p.Ala728=) n.2768G>C c.1236G>C (p.Ala412=) c.726G>C (p.Ala242=) c.1182G>C (n.1182G>C) c.2580G>C (p.Ala860=) c.2562G>C (p.Ala854=)	gnomAD v4
22	g.50720416G>T	CA515259206	SHANK3	c.2184G>T (p.Ala728=) n.2768G>T c.1236G>T (p.Ala412=) c.726G>T (p.Ala242=) c.1182G>T (n.1182G>T) c.2580G>T (p.Ala860=) c.2562G>T (p.Ala854=)	gnomAD v4
22	g.50720417C>A	CA515259207	SHANK3	c.2185C>A (p.Arg729Ser) n.2769C>A c.1237C>A (p.Arg413Ser) c.727C>A (p.Arg243Ser) c.1183C>A (n.1183C>A) c.2581C>A (p.Arg861Ser) c.2563C>A (p.Arg855Ser)	gnomAD v4
22	g.50720417C>G	CA515259208	SHANK3	c.2185C>G (p.Arg729Gly) n.2769C>G c.1237C>G (p.Arg413Gly) c.727C>G (p.Arg243Gly) c.1183C>G (n.1183C>G) c.2581C>G (p.Arg861Gly) c.2563C>G (p.Arg855Gly)	gnomAD v4
22	g.50720417C>T	CA515259209	SHANK3	c.2185C>T (p.Arg729Cys) n.2769C>T c.1237C>T (p.Arg413Cys) c.727C>T (p.Arg243Cys) c.1183C>T (n.1183C>T) c.2581C>T (p.Arg861Cys) c.2563C>T (p.Arg855Cys)	gnomAD v4
22	g.50720418G>A	CA515259210	SHANK3	c.2186G>A (p.Arg729His) n.2770G>A c.1238G>A (p.Arg413His) c.728G>A (p.Arg243His) c.1184G>A (n.1184G>A) c.2582G>A (p.Arg861His) c.2564G>A (p.Arg855His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720418G>C	CA515259211	SHANK3	c.2186G>C (p.Arg729Pro) n.2770G>C c.1238G>C (p.Arg413Pro) c.728G>C (p.Arg243Pro) c.1184G>C (n.1184G>C) c.2582G>C (p.Arg861Pro) c.2564G>C (p.Arg855Pro)	gnomAD v4
22	g.50720418G=	CA2411007606	SHANK3	c.2186G= (p.Arg729=) n.2770G= c.1238G= (p.Arg413=) c.728G= (p.Arg243=) c.1184G= (n.1184G=) c.2582G= (p.Arg861=) c.2564G= (p.Arg855=)
22	g.50720418G>T	CA515259212	SHANK3	c.2186G>T (p.Arg729Leu) n.2770G>T c.1238G>T (p.Arg413Leu) c.728G>T (p.Arg243Leu) c.1184G>T (n.1184G>T) c.2582G>T (p.Arg861Leu) c.2564G>T (p.Arg855Leu)	gnomAD v4
22	g.50720419_50720422del	CA2657583129	SHANK3	c.2187_2190del (p.Leu730AlafsTer29) n.2771_2774del c.1239_1242del (p.Leu414AlafsTer29) c.729_732del (p.Leu244AlafsTer29) c.1185_1188del (n.1185_1188del) c.2583_2586del (p.Leu862AlafsTer29) c.2565_2568del (p.Leu856AlafsTer29)	gnomAD v4
22	g.50720419C>A	CA515259213	SHANK3	c.2187C>A (p.Arg729=) n.2771C>A c.1239C>A (p.Arg413=) c.729C>A (p.Arg243=) c.1185C>A (n.1185C>A) c.2583C>A (p.Arg861=) c.2565C>A (p.Arg855=)	gnomAD v4
22	g.50720419C>G	CA515259214	SHANK3	c.2187C>G (p.Arg729=) n.2771C>G c.1239C>G (p.Arg413=) c.729C>G (p.Arg243=) c.1185C>G (n.1185C>G) c.2583C>G (p.Arg861=) c.2565C>G (p.Arg855=)
22	g.50720419C>T	CA515259215	SHANK3	c.2187C>T (p.Arg729=) n.2771C>T c.1239C>T (p.Arg413=) c.729C>T (p.Arg243=) c.1185C>T (n.1185C>T) c.2583C>T (p.Arg861=) c.2565C>T (p.Arg855=)	gnomAD v4
22	g.50720420C>A	CA515259218	SHANK3	c.2188C>A (p.Leu730Met) n.2772C>A c.1240C>A (p.Leu414Met) c.730C>A (p.Leu244Met) c.1186C>A (n.1186C>A) c.2584C>A (p.Leu862Met) c.2566C>A (p.Leu856Met)	gnomAD v4
22	g.50720420C>G	CA515259217	SHANK3	c.2188C>G (p.Leu730Val) n.2772C>G c.1240C>G (p.Leu414Val) c.730C>G (p.Leu244Val) c.1186C>G (n.1186C>G) c.2584C>G (p.Leu862Val) c.2566C>G (p.Leu856Val)
22	g.50720420C>T	CA515259216	SHANK3	c.2188C>T (p.Leu730=) n.2772C>T c.1240C>T (p.Leu414=) c.730C>T (p.Leu244=) c.1186C>T (n.1186C>T) c.2584C>T (p.Leu862=) c.2566C>T (p.Leu856=)	gnomAD v4
22	g.50720421T>A	CA515259219	SHANK3	c.2189T>A (p.Leu730Gln) n.2773T>A c.1241T>A (p.Leu414Gln) c.731T>A (p.Leu244Gln) c.1187T>A (n.1187T>A) c.2585T>A (p.Leu862Gln) c.2567T>A (p.Leu856Gln)
22	g.50720421T>C	CA515259220	SHANK3	c.2189T>C (p.Leu730Pro) n.2773T>C c.1241T>C (p.Leu414Pro) c.731T>C (p.Leu244Pro) c.1187T>C (n.1187T>C) c.2585T>C (p.Leu862Pro) c.2567T>C (p.Leu856Pro)	gnomAD v4
22	g.50720421T>G	CA515259221	SHANK3	c.2189T>G (p.Leu730Arg) n.2773T>G c.1241T>G (p.Leu414Arg) c.731T>G (p.Leu244Arg) c.1187T>G (n.1187T>G) c.2585T>G (p.Leu862Arg) c.2567T>G (p.Leu856Arg)	gnomAD v4
22	g.50720421T=	CA2411007607	SHANK3	c.2189T= (p.Leu730=) n.2773T= c.1241T= (p.Leu414=) c.731T= (p.Leu244=) c.1187T= (n.1187T=) c.2585T= (p.Leu862=) c.2567T= (p.Leu856=)
22	g.50720422G>A	CA515259222	SHANK3	c.2190G>A (p.Leu730=) n.2774G>A c.1242G>A (p.Leu414=) c.732G>A (p.Leu244=) c.1188G>A (n.1188G>A) c.2586G>A (p.Leu862=) c.2568G>A (p.Leu856=)	gnomAD v4
22	g.50720422G>C	CA515259223	SHANK3	c.2190G>C (p.Leu730=) n.2774G>C c.1242G>C (p.Leu414=) c.732G>C (p.Leu244=) c.1188G>C (n.1188G>C) c.2586G>C (p.Leu862=) c.2568G>C (p.Leu856=)	gnomAD v4
22	g.50720422G>T	CA515259224	SHANK3	c.2190G>T (p.Leu730=) n.2774G>T c.1242G>T (p.Leu414=) c.732G>T (p.Leu244=) c.1188G>T (n.1188G>T) c.2586G>T (p.Leu862=) c.2568G>T (p.Leu856=)	gnomAD v4
22	g.50720424del	CA2657583130	SHANK3	c.2192del (p.Gly731AlafsTer29) n.2776del c.1244del (p.Gly415AlafsTer29) c.734del (p.Gly245AlafsTer29) c.1190del (n.1190del) c.2588del (p.Gly863AlafsTer29) c.2570del (p.Gly857AlafsTer29)	gnomAD v4
22	g.50720428_50720433dup	CA754092511	SHANK3	c.2196_2201dup (p.Ala734_Ala735insGlyAla) n.2780_2785dup c.1248_1253dup (p.Ala418_Ala419insGlyAla) c.738_743dup (p.Ala248_Ala249insGlyAla) c.1194_1199dup (n.1194_1199dup) c.2592_2597dup (p.Ala866_Ala867insGlyAla) c.2574_2579dup (p.Ala860_Ala861insGlyAla)	dbSNP gnomAD v3 gnomAD v4
22	g.50720430_50720459dup	CA640358963	SHANK3	c.2198_2227dup (p.Ala742_Ala743insGlyAlaAlaGlyLeuTyrGluProGlyAla) n.2782_2811dup c.1250_1279dup (p.Ala426_Ala427insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.740_769dup (p.Ala256_Ala257insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.1196_1225dup (n.1196_1225dup) c.2594_2623dup (p.Ala874_Ala875insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.2576_2605dup (p.Ala868_Ala869insGlyAlaAlaGlyLeuTyrGluProGlyAla)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720430_50720459del	CA2657583131	SHANK3	c.2198_2227del (p.Gly733_Ala742del) n.2782_2811del c.1250_1279del (p.Gly417_Ala426del) c.740_769del (p.Gly247_Ala256del) c.1196_1225del (n.1196_1225del) c.2594_2623del (p.Gly865_Ala874del) c.2576_2605del (p.Gly859_Ala868del)	gnomAD v4
22	g.50720423G>A	CA515259225	SHANK3	c.2191G>A (p.Gly731Ser) n.2775G>A c.1243G>A (p.Gly415Ser) c.733G>A (p.Gly245Ser) c.1189G>A (n.1189G>A) c.2587G>A (p.Gly863Ser) c.2569G>A (p.Gly857Ser)	gnomAD v4
22	g.50720423G>C	CA515259226	SHANK3	c.2191G>C (p.Gly731Arg) n.2775G>C c.1243G>C (p.Gly415Arg) c.733G>C (p.Gly245Arg) c.1189G>C (n.1189G>C) c.2587G>C (p.Gly863Arg) c.2569G>C (p.Gly857Arg)	gnomAD v4
22	g.50720423G=	CA2411007608	SHANK3	c.2191G= (p.Gly731=) n.2775G= c.1243G= (p.Gly415=) c.733G= (p.Gly245=) c.1189G= (n.1189G=) c.2587G= (p.Gly863=) c.2569G= (p.Gly857=)
22	g.50720423G>T	CA515259227	SHANK3	c.2191G>T (p.Gly731Cys) n.2775G>T c.1243G>T (p.Gly415Cys) c.733G>T (p.Gly245Cys) c.1189G>T (n.1189G>T) c.2587G>T (p.Gly863Cys) c.2569G>T (p.Gly857Cys)	dbSNP gnomAD v4
22	g.50720426_50720440del	CA2819315490	SHANK3	c.2194_2208del (p.Ala732_Gly736del) n.2778_2792del c.1246_1260del (p.Ala416_Gly420del) c.736_750del (p.Ala246_Gly250del) c.1192_1206del (n.1192_1206del) c.2590_2604del (p.Ala864_Gly868del) c.2572_2586del (p.Ala858_Gly862del)
22	g.50720424G>A	CA515259228	SHANK3	c.2192G>A (p.Gly731Asp) n.2776G>A c.1244G>A (p.Gly415Asp) c.734G>A (p.Gly245Asp) c.1190G>A (n.1190G>A) c.2588G>A (p.Gly863Asp) c.2570G>A (p.Gly857Asp)	gnomAD v4
22	g.50720424G>C	CA325578073	SHANK3	c.2192G>C (p.Gly731Ala) n.2776G>C c.1244G>C (p.Gly415Ala) c.734G>C (p.Gly245Ala) c.1190G>C (n.1190G>C) c.2588G>C (p.Gly863Ala) c.2570G>C (p.Gly857Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.50720424G=	CA2411007609	SHANK3	c.2192G= (p.Gly731=) n.2776G= c.1244G= (p.Gly415=) c.734G= (p.Gly245=) c.1190G= (n.1190G=) c.2588G= (p.Gly863=) c.2570G= (p.Gly857=)
22	g.50720424G>T	CA515259229	SHANK3	c.2192G>T (p.Gly731Val) n.2776G>T c.1244G>T (p.Gly415Val) c.734G>T (p.Gly245Val) c.1190G>T (n.1190G>T) c.2588G>T (p.Gly863Val) c.2570G>T (p.Gly857Val)	gnomAD v4
22	g.50720427_50720428del	CA2657583135	SHANK3	c.2195_2196del (p.Ala732GlyfsTer?) n.2779_2780del c.1247_1248del (p.Ala416GlyfsTer?) c.737_738del (p.Ala246GlyfsTer?) c.1193_1194del (n.1193_1194del) c.2591_2592del (p.Ala864GlyfsTer?) c.2573_2574del (p.Ala858GlyfsTer?)	gnomAD v4
22	g.50720425del	CA2819315497	SHANK3	c.2193del (p.Ala732ArgfsTer28) n.2777del c.1245del (p.Ala416ArgfsTer28) c.735del (p.Ala246ArgfsTer28) c.1191del (n.1191del) c.2589del (p.Ala864ArgfsTer28) c.2571del (p.Ala858ArgfsTer28)
22	g.50720425C>A	CA515259232	SHANK3	c.2193C>A (p.Gly731=) n.2777C>A c.1245C>A (p.Gly415=) c.735C>A (p.Gly245=) c.1191C>A (n.1191C>A) c.2589C>A (p.Gly863=) c.2571C>A (p.Gly857=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720425C=	CA2411007610	SHANK3	c.2193C= (p.Gly731=) n.2777C= c.1245C= (p.Gly415=) c.735C= (p.Gly245=) c.1191C= (n.1191C=) c.2589C= (p.Gly863=) c.2571C= (p.Gly857=)
22	g.50720425C>G	CA515259231	SHANK3	c.2193C>G (p.Gly731=) n.2777C>G c.1245C>G (p.Gly415=) c.735C>G (p.Gly245=) c.1191C>G (n.1191C>G) c.2589C>G (p.Gly863=) c.2571C>G (p.Gly857=)	gnomAD v4
22	g.50720425C>T	CA515259230	SHANK3	c.2193C>T (p.Gly731=) n.2777C>T c.1245C>T (p.Gly415=) c.735C>T (p.Gly245=) c.1191C>T (n.1191C>T) c.2589C>T (p.Gly863=) c.2571C>T (p.Gly857=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720426G>A	CA515259233	SHANK3	c.2194G>A (p.Ala732Thr) n.2778G>A c.1246G>A (p.Ala416Thr) c.736G>A (p.Ala246Thr) c.1192G>A (n.1192G>A) c.2590G>A (p.Ala864Thr) c.2572G>A (p.Ala858Thr)	dbSNP gnomAD v4
22	g.50720426G>C	CA515259234	SHANK3	c.2194G>C (p.Ala732Pro) n.2778G>C c.1246G>C (p.Ala416Pro) c.736G>C (p.Ala246Pro) c.1192G>C (n.1192G>C) c.2590G>C (p.Ala864Pro) c.2572G>C (p.Ala858Pro)	gnomAD v4
22	g.50720426G=	CA2411007611	SHANK3	c.2194G= (p.Ala732=) n.2778G= c.1246G= (p.Ala416=) c.736G= (p.Ala246=) c.1192G= (n.1192G=) c.2590G= (p.Ala864=) c.2572G= (p.Ala858=)
22	g.50720426G>T	CA515259235	SHANK3	c.2194G>T (p.Ala732Ser) n.2778G>T c.1246G>T (p.Ala416Ser) c.736G>T (p.Ala246Ser) c.1192G>T (n.1192G>T) c.2590G>T (p.Ala864Ser) c.2572G>T (p.Ala858Ser)	gnomAD v4
22	g.50720427del	CA2657583140	SHANK3	c.2195del (p.Ala732GlyfsTer28) n.2779del c.1247del (p.Ala416GlyfsTer28) c.737del (p.Ala246GlyfsTer28) c.1193del (n.1193del) c.2591del (p.Ala864GlyfsTer28) c.2573del (p.Ala858GlyfsTer28)	gnomAD v4
22	g.50720427C>A	CA515259236	SHANK3	c.2195C>A (p.Ala732Glu) n.2779C>A c.1247C>A (p.Ala416Glu) c.737C>A (p.Ala246Glu) c.1193C>A (n.1193C>A) c.2591C>A (p.Ala864Glu) c.2573C>A (p.Ala858Glu)	gnomAD v4
22	g.50720427C=	CA2411007612	SHANK3	c.2195C= (p.Ala732=) n.2779C= c.1247C= (p.Ala416=) c.737C= (p.Ala246=) c.1193C= (n.1193C=) c.2591C= (p.Ala864=) c.2573C= (p.Ala858=)
22	g.50720427C>G	CA325578081	SHANK3	c.2195C>G (p.Ala732Gly) n.2779C>G c.1247C>G (p.Ala416Gly) c.737C>G (p.Ala246Gly) c.1193C>G (n.1193C>G) c.2591C>G (p.Ala864Gly) c.2573C>G (p.Ala858Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50720427C>T	CA515259237	SHANK3	c.2195C>T (p.Ala732Val) n.2779C>T c.1247C>T (p.Ala416Val) c.737C>T (p.Ala246Val) c.1193C>T (n.1193C>T) c.2591C>T (p.Ala864Val) c.2573C>T (p.Ala858Val)	gnomAD v4
22	g.50720434_50720457dup	CA2657583139	SHANK3	c.2202_2225dup (p.Ala742_Ala743insAlaGlyLeuTyrGluProGlyAla) n.2786_2809dup c.1254_1277dup (p.Ala426_Ala427insAlaGlyLeuTyrGluProGlyAla) c.744_767dup (p.Ala256_Ala257insAlaGlyLeuTyrGluProGlyAla) c.1200_1223dup (n.1200_1223dup) c.2598_2621dup (p.Ala874_Ala875insAlaGlyLeuTyrGluProGlyAla) c.2580_2603dup (p.Ala868_Ala869insAlaGlyLeuTyrGluProGlyAla)	gnomAD v4
22	g.50720428G>A	CA10325923	SHANK3	c.2196G>A (p.Ala732=) n.2780G>A c.1248G>A (p.Ala416=) c.738G>A (p.Ala246=) c.1194G>A (n.1194G>A) c.2592G>A (p.Ala864=) c.2574G>A (p.Ala858=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720428G>C	CA515259238	SHANK3	c.2196G>C (p.Ala732=) n.2780G>C c.1248G>C (p.Ala416=) c.738G>C (p.Ala246=) c.1194G>C (n.1194G>C) c.2592G>C (p.Ala864=) c.2574G>C (p.Ala858=)	gnomAD v4
22	g.50720428G=	CA2411007613	SHANK3	c.2196G= (p.Ala732=) n.2780G= c.1248G= (p.Ala416=) c.738G= (p.Ala246=) c.1194G= (n.1194G=) c.2592G= (p.Ala864=) c.2574G= (p.Ala858=)
22	g.50720428G>T	CA515259239	SHANK3	c.2196G>T (p.Ala732=) n.2780G>T c.1248G>T (p.Ala416=) c.738G>T (p.Ala246=) c.1194G>T (n.1194G>T) c.2592G>T (p.Ala864=) c.2574G>T (p.Ala858=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720430del	CA2657583141	SHANK3	c.2198del (p.Gly733AlafsTer27) n.2782del c.1250del (p.Gly417AlafsTer27) c.740del (p.Gly247AlafsTer27) c.1196del (n.1196del) c.2594del (p.Gly865AlafsTer27) c.2576del (p.Gly859AlafsTer27)	gnomAD v4
22	g.50720429G>A	CA515259240	SHANK3	c.2197G>A (p.Gly733Ser) n.2781G>A c.1249G>A (p.Gly417Ser) c.739G>A (p.Gly247Ser) c.1195G>A (n.1195G>A) c.2593G>A (p.Gly865Ser) c.2575G>A (p.Gly859Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50720429G>C	CA515259241	SHANK3	c.2197G>C (p.Gly733Arg) n.2781G>C c.1249G>C (p.Gly417Arg) c.739G>C (p.Gly247Arg) c.1195G>C (n.1195G>C) c.2593G>C (p.Gly865Arg) c.2575G>C (p.Gly859Arg)
22	g.50720429G=	CA2411007614	SHANK3	c.2197G= (p.Gly733=) n.2781G= c.1249G= (p.Gly417=) c.739G= (p.Gly247=) c.1195G= (n.1195G=) c.2593G= (p.Gly865=) c.2575G= (p.Gly859=)
22	g.50720429G>T	CA515259242	SHANK3	c.2197G>T (p.Gly733Cys) n.2781G>T c.1249G>T (p.Gly417Cys) c.739G>T (p.Gly247Cys) c.1195G>T (n.1195G>T) c.2593G>T (p.Gly865Cys) c.2575G>T (p.Gly859Cys)	gnomAD v4
22	g.50720430G>A	CA515259245	SHANK3	c.2198G>A (p.Gly733Asp) n.2782G>A c.1250G>A (p.Gly417Asp) c.740G>A (p.Gly247Asp) c.1196G>A (n.1196G>A) c.2594G>A (p.Gly865Asp) c.2576G>A (p.Gly859Asp)	gnomAD v4
22	g.50720430G>C	CA515259244	SHANK3	c.2198G>C (p.Gly733Ala) n.2782G>C c.1250G>C (p.Gly417Ala) c.740G>C (p.Gly247Ala) c.1196G>C (n.1196G>C) c.2594G>C (p.Gly865Ala) c.2576G>C (p.Gly859Ala)	gnomAD v4
22	g.50720430G>T	CA515259243	SHANK3	c.2198G>T (p.Gly733Val) n.2782G>T c.1250G>T (p.Gly417Val) c.740G>T (p.Gly247Val) c.1196G>T (n.1196G>T) c.2594G>T (p.Gly865Val) c.2576G>T (p.Gly859Val)	gnomAD v4
22	g.50720431C>A	CA515259246	SHANK3	c.2199C>A (p.Gly733=) n.2783C>A c.1251C>A (p.Gly417=) c.741C>A (p.Gly247=) c.1197C>A (n.1197C>A) c.2595C>A (p.Gly865=) c.2577C>A (p.Gly859=)	gnomAD v4
22	g.50720431C>G	CA515259247	SHANK3	c.2199C>G (p.Gly733=) n.2783C>G c.1251C>G (p.Gly417=) c.741C>G (p.Gly247=) c.1197C>G (n.1197C>G) c.2595C>G (p.Gly865=) c.2577C>G (p.Gly859=)	gnomAD v4
22	g.50720431C>T	CA515259248	SHANK3	c.2199C>T (p.Gly733=) n.2783C>T c.1251C>T (p.Gly417=) c.741C>T (p.Gly247=) c.1197C>T (n.1197C>T) c.2595C>T (p.Gly865=) c.2577C>T (p.Gly859=)	gnomAD v4
22	g.50720432G>A	CA515259249	SHANK3	c.2200G>A (p.Ala734Thr) n.2784G>A c.1252G>A (p.Ala418Thr) c.742G>A (p.Ala248Thr) c.1198G>A (n.1198G>A) c.2596G>A (p.Ala866Thr) c.2578G>A (p.Ala860Thr)	dbSNP gnomAD v3 gnomAD v4
22	g.50720432G>C	CA515259250	SHANK3	c.2200G>C (p.Ala734Pro) n.2784G>C c.1252G>C (p.Ala418Pro) c.742G>C (p.Ala248Pro) c.1198G>C (n.1198G>C) c.2596G>C (p.Ala866Pro) c.2578G>C (p.Ala860Pro)
22	g.50720432G=	CA2411007615	SHANK3	c.2200G= (p.Ala734=) n.2784G= c.1252G= (p.Ala418=) c.742G= (p.Ala248=) c.1198G= (n.1198G=) c.2596G= (p.Ala866=) c.2578G= (p.Ala860=)
22	g.50720432G>T	CA515259251	SHANK3	c.2200G>T (p.Ala734Ser) n.2784G>T c.1252G>T (p.Ala418Ser) c.742G>T (p.Ala248Ser) c.1198G>T (n.1198G>T) c.2596G>T (p.Ala866Ser) c.2578G>T (p.Ala860Ser)	gnomAD v4
22	g.50720433C>A	CA515259252	SHANK3	c.2201C>A (p.Ala734Asp) n.2785C>A c.1253C>A (p.Ala418Asp) c.743C>A (p.Ala248Asp) c.1199C>A (n.1199C>A) c.2597C>A (p.Ala866Asp) c.2579C>A (p.Ala860Asp)	dbSNP gnomAD v3 gnomAD v4
22	g.50720433C=	CA2411007616	SHANK3	c.2201C= (p.Ala734=) n.2785C= c.1253C= (p.Ala418=) c.743C= (p.Ala248=) c.1199C= (n.1199C=) c.2597C= (p.Ala866=) c.2579C= (p.Ala860=)
22	g.50720433C>G	CA515259253	SHANK3	c.2201C>G (p.Ala734Gly) n.2785C>G c.1253C>G (p.Ala418Gly) c.743C>G (p.Ala248Gly) c.1199C>G (n.1199C>G) c.2597C>G (p.Ala866Gly) c.2579C>G (p.Ala860Gly)	gnomAD v4
22	g.50720433C>T	CA515259254	SHANK3	c.2201C>T (p.Ala734Val) n.2785C>T c.1253C>T (p.Ala418Val) c.743C>T (p.Ala248Val) c.1199C>T (n.1199C>T) c.2597C>T (p.Ala866Val) c.2579C>T (p.Ala860Val)	dbSNP gnomAD v4
22	g.50720434T>A	CA515259255	SHANK3	c.2202T>A (p.Ala734=) n.2786T>A c.1254T>A (p.Ala418=) c.744T>A (p.Ala248=) c.1200T>A (n.1200T>A) c.2598T>A (p.Ala866=) c.2580T>A (p.Ala860=)
22	g.50720434T>C	CA515259256	SHANK3	c.2202T>C (p.Ala734=) n.2786T>C c.1254T>C (p.Ala418=) c.744T>C (p.Ala248=) c.1200T>C (n.1200T>C) c.2598T>C (p.Ala866=) c.2580T>C (p.Ala860=)	gnomAD v4
22	g.50720434T>G	CA515259257	SHANK3	c.2202T>G (p.Ala734=) n.2786T>G c.1254T>G (p.Ala418=) c.744T>G (p.Ala248=) c.1200T>G (n.1200T>G) c.2598T>G (p.Ala866=) c.2580T>G (p.Ala860=)
22	g.50720435G>A	CA515259260	SHANK3	c.2203G>A (p.Ala735Thr) n.2787G>A c.1255G>A (p.Ala419Thr) c.745G>A (p.Ala249Thr) c.1201G>A (n.1201G>A) c.2599G>A (p.Ala867Thr) c.2581G>A (p.Ala861Thr)	gnomAD v4
22	g.50720435G>C	CA515259259	SHANK3	c.2203G>C (p.Ala735Pro) n.2787G>C c.1255G>C (p.Ala419Pro) c.745G>C (p.Ala249Pro) c.1201G>C (n.1201G>C) c.2599G>C (p.Ala867Pro) c.2581G>C (p.Ala861Pro)	gnomAD v4
22	g.50720435G>T	CA515259258	SHANK3	c.2203G>T (p.Ala735Ser) n.2787G>T c.1255G>T (p.Ala419Ser) c.745G>T (p.Ala249Ser) c.1201G>T (n.1201G>T) c.2599G>T (p.Ala867Ser) c.2581G>T (p.Ala861Ser)	gnomAD v4
22	g.50720435dup	CA1026671883	SHANK3	c.2203dup (p.Ala735GlyfsTer?) n.2787dup c.1255dup (p.Ala419GlyfsTer?) c.745dup (p.Ala249GlyfsTer?) c.1201dup (n.1201dup) c.2599dup (p.Ala867GlyfsTer?) c.2581dup (p.Ala861GlyfsTer?)	gnomAD v3 gnomAD v4
22	g.50720438_50720441del	CA2657583146	SHANK3	c.2206_2209del (p.Gly736CysfsTer23) n.2790_2793del c.1258_1261del (p.Gly420CysfsTer23) c.748_751del (p.Gly250CysfsTer23) c.1204_1207del (n.1204_1207del) c.2602_2605del (p.Gly868CysfsTer23) c.2584_2587del (p.Gly862CysfsTer23)	gnomAD v4
22	g.50720436C>A	CA515259261	SHANK3	c.2204C>A (p.Ala735Asp) n.2788C>A c.1256C>A (p.Ala419Asp) c.746C>A (p.Ala249Asp) c.1202C>A (n.1202C>A) c.2600C>A (p.Ala867Asp) c.2582C>A (p.Ala861Asp)	gnomAD v4
22	g.50720436C>G	CA515259262	SHANK3	c.2204C>G (p.Ala735Gly) n.2788C>G c.1256C>G (p.Ala419Gly) c.746C>G (p.Ala249Gly) c.1202C>G (n.1202C>G) c.2600C>G (p.Ala867Gly) c.2582C>G (p.Ala861Gly)
22	g.50720436C>T	CA515259263	SHANK3	c.2204C>T (p.Ala735Val) n.2788C>T c.1256C>T (p.Ala419Val) c.746C>T (p.Ala249Val) c.1202C>T (n.1202C>T) c.2600C>T (p.Ala867Val) c.2582C>T (p.Ala861Val)	gnomAD v3 gnomAD v4
22	g.50720437C>A	CA515259264	SHANK3	c.2205C>A (p.Ala735=) n.2789C>A c.1257C>A (p.Ala419=) c.747C>A (p.Ala249=) c.1203C>A (n.1203C>A) c.2601C>A (p.Ala867=) c.2583C>A (p.Ala861=)	dbSNP gnomAD v4
22	g.50720437C=	CA2411007617	SHANK3	c.2205C= (p.Ala735=) n.2789C= c.1257C= (p.Ala419=) c.747C= (p.Ala249=) c.1203C= (n.1203C=) c.2601C= (p.Ala867=) c.2583C= (p.Ala861=)
22	g.50720437C>G	CA515259265	SHANK3	c.2205C>G (p.Ala735=) n.2789C>G c.1257C>G (p.Ala419=) c.747C>G (p.Ala249=) c.1203C>G (n.1203C>G) c.2601C>G (p.Ala867=) c.2583C>G (p.Ala861=)	gnomAD v4
22	g.50720437C>T	CA515259266	SHANK3	c.2205C>T (p.Ala735=) n.2789C>T c.1257C>T (p.Ala419=) c.747C>T (p.Ala249=) c.1203C>T (n.1203C>T) c.2601C>T (p.Ala867=) c.2583C>T (p.Ala861=)	gnomAD v4
22	g.50720437_50720438insCG	CA1026671884	SHANK3	c.2205_2206insCG (p.Gly736ArgfsTer25) n.2789_2790insCG c.1257_1258insCG (p.Gly420ArgfsTer25) c.747_748insCG (p.Gly250ArgfsTer25) c.1203_1204insCG (n.1203_1204insCG) c.2601_2602insCG (p.Gly868ArgfsTer25) c.2583_2584insCG (p.Gly862ArgfsTer25)	gnomAD v3 gnomAD v4
22	g.50720438G>A	CA515259269	SHANK3	c.2206G>A (p.Gly736Ser) n.2790G>A c.1258G>A (p.Gly420Ser) c.748G>A (p.Gly250Ser) c.1204G>A (n.1204G>A) c.2602G>A (p.Gly868Ser) c.2584G>A (p.Gly862Ser)	gnomAD v3 gnomAD v4
22	g.50720438G>C	CA515259268	SHANK3	c.2206G>C (p.Gly736Arg) n.2790G>C c.1258G>C (p.Gly420Arg) c.748G>C (p.Gly250Arg) c.1204G>C (n.1204G>C) c.2602G>C (p.Gly868Arg) c.2584G>C (p.Gly862Arg)
22	g.50720438G>T	CA515259267	SHANK3	c.2206G>T (p.Gly736Cys) n.2790G>T c.1258G>T (p.Gly420Cys) c.748G>T (p.Gly250Cys) c.1204G>T (n.1204G>T) c.2602G>T (p.Gly868Cys) c.2584G>T (p.Gly862Cys)	gnomAD v4
22	g.50720439G>A	CA515259270	SHANK3	c.2207G>A (p.Gly736Asp) n.2791G>A c.1259G>A (p.Gly420Asp) c.749G>A (p.Gly250Asp) c.1205G>A (n.1205G>A) c.2603G>A (p.Gly868Asp) c.2585G>A (p.Gly862Asp)	gnomAD v4
22	g.50720439G>C	CA515259271	SHANK3	c.2207G>C (p.Gly736Ala) n.2791G>C c.1259G>C (p.Gly420Ala) c.749G>C (p.Gly250Ala) c.1205G>C (n.1205G>C) c.2603G>C (p.Gly868Ala) c.2585G>C (p.Gly862Ala)	gnomAD v4
22	g.50720439G=	CA2411007618	SHANK3	c.2207G= (p.Gly736=) n.2791G= c.1259G= (p.Gly420=) c.749G= (p.Gly250=) c.1205G= (n.1205G=) c.2603G= (p.Gly868=) c.2585G= (p.Gly862=)
22	g.50720439G>T	CA515259272	SHANK3	c.2207G>T (p.Gly736Val) n.2791G>T c.1259G>T (p.Gly420Val) c.749G>T (p.Gly250Val) c.1205G>T (n.1205G>T) c.2603G>T (p.Gly868Val) c.2585G>T (p.Gly862Val)	dbSNP gnomAD v4
22	g.50720440C>A	CA515259273	SHANK3	c.2208C>A (p.Gly736=) n.2792C>A c.1260C>A (p.Gly420=) c.750C>A (p.Gly250=) c.1206C>A (n.1206C>A) c.2604C>A (p.Gly868=) c.2586C>A (p.Gly862=)	gnomAD v4
22	g.50720440C>G	CA515259274	SHANK3	c.2208C>G (p.Gly736=) n.2792C>G c.1260C>G (p.Gly420=) c.750C>G (p.Gly250=) c.1206C>G (n.1206C>G) c.2604C>G (p.Gly868=) c.2586C>G (p.Gly862=)	gnomAD v4
22	g.50720440C>T	CA515259275	SHANK3	c.2208C>T (p.Gly736=) n.2792C>T c.1260C>T (p.Gly420=) c.750C>T (p.Gly250=) c.1206C>T (n.1206C>T) c.2604C>T (p.Gly868=) c.2586C>T (p.Gly862=)	gnomAD v4
22	g.50720441C>A	CA515259276	SHANK3	c.2209C>A (p.Leu737Met) n.2793C>A c.1261C>A (p.Leu421Met) c.751C>A (p.Leu251Met) c.1207C>A (n.1207C>A) c.2605C>A (p.Leu869Met) c.2587C>A (p.Leu863Met)	dbSNP gnomAD v4
22	g.50720441C=	CA2411007619	SHANK3	c.2209C= (p.Leu737=) n.2793C= c.1261C= (p.Leu421=) c.751C= (p.Leu251=) c.1207C= (n.1207C=) c.2605C= (p.Leu869=) c.2587C= (p.Leu863=)
22	g.50720441C>G	CA515259277	SHANK3	c.2209C>G (p.Leu737Val) n.2793C>G c.1261C>G (p.Leu421Val) c.751C>G (p.Leu251Val) c.1207C>G (n.1207C>G) c.2605C>G (p.Leu869Val) c.2587C>G (p.Leu863Val)
22	g.50720441C>T	CA325578087	SHANK3	c.2209C>T (p.Leu737=) n.2793C>T c.1261C>T (p.Leu421=) c.751C>T (p.Leu251=) c.1207C>T (n.1207C>T) c.2605C>T (p.Leu869=) c.2587C>T (p.Leu863=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720442T>A	CA515259278	SHANK3	c.2210T>A (p.Leu737Gln) n.2794T>A c.1262T>A (p.Leu421Gln) c.752T>A (p.Leu251Gln) c.1208T>A (n.1208T>A) c.2606T>A (p.Leu869Gln) c.2588T>A (p.Leu863Gln)	gnomAD v4
22	g.50720442T>C	CA515259279	SHANK3	c.2210T>C (p.Leu737Pro) n.2794T>C c.1262T>C (p.Leu421Pro) c.752T>C (p.Leu251Pro) c.1208T>C (n.1208T>C) c.2606T>C (p.Leu869Pro) c.2588T>C (p.Leu863Pro)	gnomAD v4
22	g.50720442T>G	CA515259280	SHANK3	c.2210T>G (p.Leu737Arg) n.2794T>G c.1262T>G (p.Leu421Arg) c.752T>G (p.Leu251Arg) c.1208T>G (n.1208T>G) c.2606T>G (p.Leu869Arg) c.2588T>G (p.Leu863Arg)
22	g.50720443G>A	CA515259281	SHANK3	c.2211G>A (p.Leu737=) n.2795G>A c.1263G>A (p.Leu421=) c.753G>A (p.Leu251=) c.1209G>A (n.1209G>A) c.2607G>A (p.Leu869=) c.2589G>A (p.Leu863=)	gnomAD v4
22	g.50720443G>C	CA515259282	SHANK3	c.2211G>C (p.Leu737=) n.2795G>C c.1263G>C (p.Leu421=) c.753G>C (p.Leu251=) c.1209G>C (n.1209G>C) c.2607G>C (p.Leu869=) c.2589G>C (p.Leu863=)	gnomAD v4
22	g.50720443G>T	CA515259283	SHANK3	c.2211G>T (p.Leu737=) n.2795G>T c.1263G>T (p.Leu421=) c.753G>T (p.Leu251=) c.1209G>T (n.1209G>T) c.2607G>T (p.Leu869=) c.2589G>T (p.Leu863=)	gnomAD v4
22	g.50720444T>A	CA515259284	SHANK3	c.2212T>A (p.Tyr738Asn) n.2796T>A c.1264T>A (p.Tyr422Asn) c.754T>A (p.Tyr252Asn) c.1210T>A (n.1210T>A) c.2608T>A (p.Tyr870Asn) c.2590T>A (p.Tyr864Asn)
22	g.50720444T>C	CA515259285	SHANK3	c.2212T>C (p.Tyr738His) n.2796T>C c.1264T>C (p.Tyr422His) c.754T>C (p.Tyr252His) c.1210T>C (n.1210T>C) c.2608T>C (p.Tyr870His) c.2590T>C (p.Tyr864His)	gnomAD v4
22	g.50720444T>G	CA515259286	SHANK3	c.2212T>G (p.Tyr738Asp) n.2796T>G c.1264T>G (p.Tyr422Asp) c.754T>G (p.Tyr252Asp) c.1210T>G (n.1210T>G) c.2608T>G (p.Tyr870Asp) c.2590T>G (p.Tyr864Asp)
22	g.50720445A>C	CA515259287	SHANK3	c.2213A>C (p.Tyr738Ser) n.2797A>C c.1265A>C (p.Tyr422Ser) c.755A>C (p.Tyr252Ser) c.1211A>C (n.1211A>C) c.2609A>C (p.Tyr870Ser) c.2591A>C (p.Tyr864Ser)
22	g.50720445A>G	CA515259288	SHANK3	c.2213A>G (p.Tyr738Cys) n.2797A>G c.1265A>G (p.Tyr422Cys) c.755A>G (p.Tyr252Cys) c.1211A>G (n.1211A>G) c.2609A>G (p.Tyr870Cys) c.2591A>G (p.Tyr864Cys)	gnomAD v4
22	g.50720445A>T	CA515259289	SHANK3	c.2213A>T (p.Tyr738Phe) n.2797A>T c.1265A>T (p.Tyr422Phe) c.755A>T (p.Tyr252Phe) c.1211A>T (n.1211A>T) c.2609A>T (p.Tyr870Phe) c.2591A>T (p.Tyr864Phe)	gnomAD v4
22	g.50720446C>A	CA515259290	SHANK3	c.2214C>A (p.Tyr738Ter) n.2798C>A c.1266C>A (p.Tyr422Ter) c.756C>A (p.Tyr252Ter) c.1212C>A (n.1212C>A) c.2610C>A (p.Tyr870Ter) c.2592C>A (p.Tyr864Ter)	ClinVar dbSNP gnomAD v4
22	g.50720446C=	CA2411007620	SHANK3	c.2214C= (p.Tyr738=) n.2798C= c.1266C= (p.Tyr422=) c.756C= (p.Tyr252=) c.1212C= (n.1212C=) c.2610C= (p.Tyr870=) c.2592C= (p.Tyr864=)
22	g.50720446C>G	CA16043165	SHANK3	c.2214C>G (p.Tyr738Ter) n.2798C>G c.1266C>G (p.Tyr422Ter) c.756C>G (p.Tyr252Ter) c.1212C>G (n.1212C>G) c.2610C>G (p.Tyr870Ter) c.2592C>G (p.Tyr864Ter)	ClinVar dbSNP gnomAD v4
22	g.50720446C>T	CA325578103	SHANK3	c.2214C>T (p.Tyr738=) n.2798C>T c.1266C>T (p.Tyr422=) c.756C>T (p.Tyr252=) c.1212C>T (n.1212C>T) c.2610C>T (p.Tyr870=) c.2592C>T (p.Tyr864=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720448_50720458del	CA2657583149	SHANK3	c.2216_2226del (p.Glu739GlyfsTer?) n.2800_2810del c.1268_1278del (p.Glu423GlyfsTer?) c.758_768del (p.Glu253GlyfsTer?) c.1214_1224del (n.1214_1224del) c.2612_2622del (p.Glu871GlyfsTer?) c.2594_2604del (p.Glu865GlyfsTer?)	gnomAD v4
22	g.50720447G>A	CA515259291	SHANK3	c.2215G>A (p.Glu739Lys) n.2799G>A c.1267G>A (p.Glu423Lys) c.757G>A (p.Glu253Lys) c.1213G>A (n.1213G>A) c.2611G>A (p.Glu871Lys) c.2593G>A (p.Glu865Lys)	gnomAD v4
22	g.50720447G>C	CA515259292	SHANK3	c.2215G>C (p.Glu739Gln) n.2799G>C c.1267G>C (p.Glu423Gln) c.757G>C (p.Glu253Gln) c.1213G>C (n.1213G>C) c.2611G>C (p.Glu871Gln) c.2593G>C (p.Glu865Gln)	gnomAD v4
22	g.50720447G>T	CA515259293	SHANK3	c.2215G>T (p.Glu739Ter) n.2799G>T c.1267G>T (p.Glu423Ter) c.757G>T (p.Glu253Ter) c.1213G>T (n.1213G>T) c.2611G>T (p.Glu871Ter) c.2593G>T (p.Glu865Ter)	gnomAD v4
22	g.50720448A>C	CA515259294	SHANK3	c.2216A>C (p.Glu739Ala) n.2800A>C c.1268A>C (p.Glu423Ala) c.758A>C (p.Glu253Ala) c.1214A>C (n.1214A>C) c.2612A>C (p.Glu871Ala) c.2594A>C (p.Glu865Ala)
22	g.50720448A>G	CA515259295	SHANK3	c.2216A>G (p.Glu739Gly) n.2800A>G c.1268A>G (p.Glu423Gly) c.758A>G (p.Glu253Gly) c.1214A>G (n.1214A>G) c.2612A>G (p.Glu871Gly) c.2594A>G (p.Glu865Gly)	gnomAD v4
22	g.50720448A>T	CA515259296	SHANK3	c.2216A>T (p.Glu739Val) n.2800A>T c.1268A>T (p.Glu423Val) c.758A>T (p.Glu253Val) c.1214A>T (n.1214A>T) c.2612A>T (p.Glu871Val) c.2594A>T (p.Glu865Val)
22	g.50720449G>A	CA515259297	SHANK3	c.2217G>A (p.Glu739=) n.2801G>A c.1269G>A (p.Glu423=) c.759G>A (p.Glu253=) c.1215G>A (n.1215G>A) c.2613G>A (p.Glu871=) c.2595G>A (p.Glu865=)	gnomAD v4
22	g.50720449G>C	CA515259298	SHANK3	c.2217G>C (p.Glu739Asp) n.2801G>C c.1269G>C (p.Glu423Asp) c.759G>C (p.Glu253Asp) c.1215G>C (n.1215G>C) c.2613G>C (p.Glu871Asp) c.2595G>C (p.Glu865Asp)	gnomAD v4
22	g.50720449G>T	CA515259299	SHANK3	c.2217G>T (p.Glu739Asp) n.2801G>T c.1269G>T (p.Glu423Asp) c.759G>T (p.Glu253Asp) c.1215G>T (n.1215G>T) c.2613G>T (p.Glu871Asp) c.2595G>T (p.Glu865Asp)	gnomAD v4

Number of alleles fetched