Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721992T>A	CA515264134	SHANK3	c.3760T>A (p.Ser1254Thr) n.4344T>A c.2812T>A (p.Ser938Thr) c.2302T>A (p.Ser768Thr) c.2758T>A (n.2758T>A) c.4156T>A (p.Ser1386Thr) c.4138T>A (p.Ser1380Thr)
22	g.50721992T>C	CA515264135	SHANK3	c.3760T>C (p.Ser1254Pro) n.4344T>C c.2812T>C (p.Ser938Pro) c.2302T>C (p.Ser768Pro) c.2758T>C (n.2758T>C) c.4156T>C (p.Ser1386Pro) c.4138T>C (p.Ser1380Pro)
22	g.50721992T>G	CA515264136	SHANK3	c.3760T>G (p.Ser1254Ala) n.4344T>G c.2812T>G (p.Ser938Ala) c.2302T>G (p.Ser768Ala) c.2758T>G (n.2758T>G) c.4156T>G (p.Ser1386Ala) c.4138T>G (p.Ser1380Ala)
22	g.50721993C>A	CA515264137	SHANK3	c.3761C>A (p.Ser1254Ter) n.4345C>A c.2813C>A (p.Ser938Ter) c.2303C>A (p.Ser768Ter) c.2759C>A (n.2759C>A) c.4157C>A (p.Ser1386Ter) c.4139C>A (p.Ser1380Ter)	gnomAD v4
22	g.50721993C=	CA2411008571	SHANK3	c.3761C= (p.Ser1254=) n.4345C= c.2813C= (p.Ser938=) c.2303C= (p.Ser768=) c.2759C= (n.2759C=) c.4157C= (p.Ser1386=) c.4139C= (p.Ser1380=)
22	g.50721993C>G	CA515264138	SHANK3	c.3761C>G (p.Ser1254Trp) n.4345C>G c.2813C>G (p.Ser938Trp) c.2303C>G (p.Ser768Trp) c.2759C>G (n.2759C>G) c.4157C>G (p.Ser1386Trp) c.4139C>G (p.Ser1380Trp)	gnomAD v4
22	g.50721993C>T	CA10326210	SHANK3	c.3761C>T (p.Ser1254Leu) n.4345C>T c.2813C>T (p.Ser938Leu) c.2303C>T (p.Ser768Leu) c.2759C>T (n.2759C>T) c.4157C>T (p.Ser1386Leu) c.4139C>T (p.Ser1380Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721994G>A	CA10326212	SHANK3	c.3762G>A (p.Ser1254=) n.4346G>A c.2814G>A (p.Ser938=) c.2304G>A (p.Ser768=) c.2760G>A (n.2760G>A) c.4158G>A (p.Ser1386=) c.4140G>A (p.Ser1380=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721994G>C	CA515264139	SHANK3	c.3762G>C (p.Ser1254=) n.4346G>C c.2814G>C (p.Ser938=) c.2304G>C (p.Ser768=) c.2760G>C (n.2760G>C) c.4158G>C (p.Ser1386=) c.4140G>C (p.Ser1380=)	dbSNP
22	g.50721994G=	CA2411008572	SHANK3	c.3762G= (p.Ser1254=) n.4346G= c.2814G= (p.Ser938=) c.2304G= (p.Ser768=) c.2760G= (n.2760G=) c.4158G= (p.Ser1386=) c.4140G= (p.Ser1380=)
22	g.50721994G>T	CA10326211	SHANK3	c.3762G>T (p.Ser1254=) n.4346G>T c.2814G>T (p.Ser938=) c.2304G>T (p.Ser768=) c.2760G>T (n.2760G>T) c.4158G>T (p.Ser1386=) c.4140G>T (p.Ser1380=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721995G>A	CA515264140	SHANK3	c.3763G>A (p.Glu1255Lys) n.4347G>A c.2815G>A (p.Glu939Lys) c.2305G>A (p.Glu769Lys) c.2761G>A (n.2761G>A) c.4159G>A (p.Glu1387Lys) c.4141G>A (p.Glu1381Lys)	gnomAD v4
22	g.50721995G>C	CA515264141	SHANK3	c.3763G>C (p.Glu1255Gln) n.4347G>C c.2815G>C (p.Glu939Gln) c.2305G>C (p.Glu769Gln) c.2761G>C (n.2761G>C) c.4159G>C (p.Glu1387Gln) c.4141G>C (p.Glu1381Gln)
22	g.50721995G>T	CA515264142	SHANK3	c.3763G>T (p.Glu1255Ter) n.4347G>T c.2815G>T (p.Glu939Ter) c.2305G>T (p.Glu769Ter) c.2761G>T (n.2761G>T) c.4159G>T (p.Glu1387Ter) c.4141G>T (p.Glu1381Ter)	gnomAD v4
22	g.50721996A>C	CA515264143	SHANK3	c.3764A>C (p.Glu1255Ala) n.4348A>C c.2816A>C (p.Glu939Ala) c.2306A>C (p.Glu769Ala) c.2762A>C (n.2762A>C) c.4160A>C (p.Glu1387Ala) c.4142A>C (p.Glu1381Ala)
22	g.50721996A>G	CA515264145	SHANK3	c.3764A>G (p.Glu1255Gly) n.4348A>G c.2816A>G (p.Glu939Gly) c.2306A>G (p.Glu769Gly) c.2762A>G (n.2762A>G) c.4160A>G (p.Glu1387Gly) c.4142A>G (p.Glu1381Gly)
22	g.50721996A>T	CA515264144	SHANK3	c.3764A>T (p.Glu1255Val) n.4348A>T c.2816A>T (p.Glu939Val) c.2306A>T (p.Glu769Val) c.2762A>T (n.2762A>T) c.4160A>T (p.Glu1387Val) c.4142A>T (p.Glu1381Val)	gnomAD v4
22	g.50721997G>A	CA515264146	SHANK3	c.3765G>A (p.Glu1255=) n.4349G>A c.2817G>A (p.Glu939=) c.2307G>A (p.Glu769=) c.2763G>A (n.2763G>A) c.4161G>A (p.Glu1387=) c.4143G>A (p.Glu1381=)
22	g.50721997G>C	CA515264147	SHANK3	c.3765G>C (p.Glu1255Asp) n.4349G>C c.2817G>C (p.Glu939Asp) c.2307G>C (p.Glu769Asp) c.2763G>C (n.2763G>C) c.4161G>C (p.Glu1387Asp) c.4143G>C (p.Glu1381Asp)
22	g.50721997G>T	CA515264148	SHANK3	c.3765G>T (p.Glu1255Asp) n.4349G>T c.2817G>T (p.Glu939Asp) c.2307G>T (p.Glu769Asp) c.2763G>T (n.2763G>T) c.4161G>T (p.Glu1387Asp) c.4143G>T (p.Glu1381Asp)	gnomAD v4
22	g.50721998A>C	CA515264149	SHANK3	c.3766A>C (p.Ser1256Arg) n.4350A>C c.2818A>C (p.Ser940Arg) c.2308A>C (p.Ser770Arg) c.2764A>C (n.2764A>C) c.4162A>C (p.Ser1388Arg) c.4144A>C (p.Ser1382Arg)
22	g.50721998A>G	CA515264150	SHANK3	c.3766A>G (p.Ser1256Gly) n.4350A>G c.2818A>G (p.Ser940Gly) c.2308A>G (p.Ser770Gly) c.2764A>G (n.2764A>G) c.4162A>G (p.Ser1388Gly) c.4144A>G (p.Ser1382Gly)
22	g.50721998A>T	CA515264151	SHANK3	c.3766A>T (p.Ser1256Cys) n.4350A>T c.2818A>T (p.Ser940Cys) c.2308A>T (p.Ser770Cys) c.2764A>T (n.2764A>T) c.4162A>T (p.Ser1388Cys) c.4144A>T (p.Ser1382Cys)
22	g.50721999G>A	CA515264152	SHANK3	c.3767G>A (p.Ser1256Asn) n.4351G>A c.2819G>A (p.Ser940Asn) c.2309G>A (p.Ser770Asn) c.2765G>A (n.2765G>A) c.4163G>A (p.Ser1388Asn) c.4145G>A (p.Ser1382Asn)
22	g.50721999G>C	CA515264153	SHANK3	c.3767G>C (p.Ser1256Thr) n.4351G>C c.2819G>C (p.Ser940Thr) c.2309G>C (p.Ser770Thr) c.2765G>C (n.2765G>C) c.4163G>C (p.Ser1388Thr) c.4145G>C (p.Ser1382Thr)
22	g.50721999G>T	CA515264154	SHANK3	c.3767G>T (p.Ser1256Ile) n.4351G>T c.2819G>T (p.Ser940Ile) c.2309G>T (p.Ser770Ile) c.2765G>T (n.2765G>T) c.4163G>T (p.Ser1388Ile) c.4145G>T (p.Ser1382Ile)
22	g.50722000C>A	CA515264155	SHANK3	c.3768C>A (p.Ser1256Arg) n.4352C>A c.2820C>A (p.Ser940Arg) c.2310C>A (p.Ser770Arg) c.2766C>A (n.2766C>A) c.4164C>A (p.Ser1388Arg) c.4146C>A (p.Ser1382Arg)
22	g.50722000C=	CA2411008573	SHANK3	c.3768C= (p.Ser1256=) n.4352C= c.2820C= (p.Ser940=) c.2310C= (p.Ser770=) c.2766C= (n.2766C=) c.4164C= (p.Ser1388=) c.4146C= (p.Ser1382=)
22	g.50722000C>G	CA515264156	SHANK3	c.3768C>G (p.Ser1256Arg) n.4352C>G c.2820C>G (p.Ser940Arg) c.2310C>G (p.Ser770Arg) c.2766C>G (n.2766C>G) c.4164C>G (p.Ser1388Arg) c.4146C>G (p.Ser1382Arg)
22	g.50722000C>T	CA10326213	SHANK3	c.3768C>T (p.Ser1256=) n.4352C>T c.2820C>T (p.Ser940=) c.2310C>T (p.Ser770=) c.2766C>T (n.2766C>T) c.4164C>T (p.Ser1388=) c.4146C>T (p.Ser1382=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722001G>A	CA325579841	SHANK3	c.3769G>A (p.Gly1257Arg) n.4353G>A c.2821G>A (p.Gly941Arg) c.2311G>A (p.Gly771Arg) c.2767G>A (n.2767G>A) c.4165G>A (p.Gly1389Arg) c.4147G>A (p.Gly1383Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50722001G>C	CA515264158	SHANK3	c.3769G>C (p.Gly1257Arg) n.4353G>C c.2821G>C (p.Gly941Arg) c.2311G>C (p.Gly771Arg) c.2767G>C (n.2767G>C) c.4165G>C (p.Gly1389Arg) c.4147G>C (p.Gly1383Arg)
22	g.50722001G=	CA2411008574	SHANK3	c.3769G= (p.Gly1257=) n.4353G= c.2821G= (p.Gly941=) c.2311G= (p.Gly771=) c.2767G= (n.2767G=) c.4165G= (p.Gly1389=) c.4147G= (p.Gly1383=)
22	g.50722001G>T	CA515264157	SHANK3	c.3769G>T (p.Gly1257Trp) n.4353G>T c.2821G>T (p.Gly941Trp) c.2311G>T (p.Gly771Trp) c.2767G>T (n.2767G>T) c.4165G>T (p.Gly1389Trp) c.4147G>T (p.Gly1383Trp)	dbSNP gnomAD v4
22	g.50722002G>A	CA515264159	SHANK3	c.3770G>A (p.Gly1257Glu) n.4354G>A c.2822G>A (p.Gly941Glu) c.2312G>A (p.Gly771Glu) c.2768G>A (n.2768G>A) c.4166G>A (p.Gly1389Glu) c.4148G>A (p.Gly1383Glu)
22	g.50722002G>C	CA515264160	SHANK3	c.3770G>C (p.Gly1257Ala) n.4354G>C c.2822G>C (p.Gly941Ala) c.2312G>C (p.Gly771Ala) c.2768G>C (n.2768G>C) c.4166G>C (p.Gly1389Ala) c.4148G>C (p.Gly1383Ala)
22	g.50722002G>T	CA515264161	SHANK3	c.3770G>T (p.Gly1257Val) n.4354G>T c.2822G>T (p.Gly941Val) c.2312G>T (p.Gly771Val) c.2768G>T (n.2768G>T) c.4166G>T (p.Gly1389Val) c.4148G>T (p.Gly1383Val)
22	g.50722003G>A	CA515264162	SHANK3	c.3771G>A (p.Gly1257=) n.4355G>A c.2823G>A (p.Gly941=) c.2313G>A (p.Gly771=) c.2769G>A (n.2769G>A) c.4167G>A (p.Gly1389=) c.4149G>A (p.Gly1383=)	gnomAD v4
22	g.50722003G>C	CA515264163	SHANK3	c.3771G>C (p.Gly1257=) n.4355G>C c.2823G>C (p.Gly941=) c.2313G>C (p.Gly771=) c.2769G>C (n.2769G>C) c.4167G>C (p.Gly1389=) c.4149G>C (p.Gly1383=)
22	g.50722003G>T	CA515264164	SHANK3	c.3771G>T (p.Gly1257=) n.4355G>T c.2823G>T (p.Gly941=) c.2313G>T (p.Gly771=) c.2769G>T (n.2769G>T) c.4167G>T (p.Gly1389=) c.4149G>T (p.Gly1383=)
22	g.50722004G>A	CA515264165	SHANK3	c.3772G>A (p.Glu1258Lys) n.4356G>A c.2824G>A (p.Glu942Lys) c.2314G>A (p.Glu772Lys) c.2770G>A (n.2770G>A) c.4168G>A (p.Glu1390Lys) c.4150G>A (p.Glu1384Lys)
22	g.50722004G>C	CA515264166	SHANK3	c.3772G>C (p.Glu1258Gln) n.4356G>C c.2824G>C (p.Glu942Gln) c.2314G>C (p.Glu772Gln) c.2770G>C (n.2770G>C) c.4168G>C (p.Glu1390Gln) c.4150G>C (p.Glu1384Gln)
22	g.50722004G>T	CA515264167	SHANK3	c.3772G>T (p.Glu1258Ter) n.4356G>T c.2824G>T (p.Glu942Ter) c.2314G>T (p.Glu772Ter) c.2770G>T (n.2770G>T) c.4168G>T (p.Glu1390Ter) c.4150G>T (p.Glu1384Ter)	ClinVar
22	g.50722005A>C	CA515264168	SHANK3	c.3773A>C (p.Glu1258Ala) n.4357A>C c.2825A>C (p.Glu942Ala) c.2315A>C (p.Glu772Ala) c.2771A>C (n.2771A>C) c.4169A>C (p.Glu1390Ala) c.4151A>C (p.Glu1384Ala)
22	g.50722005A>G	CA515264169	SHANK3	c.3773A>G (p.Glu1258Gly) n.4357A>G c.2825A>G (p.Glu942Gly) c.2315A>G (p.Glu772Gly) c.2771A>G (n.2771A>G) c.4169A>G (p.Glu1390Gly) c.4151A>G (p.Glu1384Gly)
22	g.50722005A>T	CA515264170	SHANK3	c.3773A>T (p.Glu1258Val) n.4357A>T c.2825A>T (p.Glu942Val) c.2315A>T (p.Glu772Val) c.2771A>T (n.2771A>T) c.4169A>T (p.Glu1390Val) c.4151A>T (p.Glu1384Val)
22	g.50722006A=	CA2411008575	SHANK3	c.3774A= (p.Glu1258=) n.4358A= c.2826A= (p.Glu942=) c.2316A= (p.Glu772=) c.2772A= (n.2772A=) c.4170A= (p.Glu1390=) c.4152A= (p.Glu1384=)
22	g.50722006A>C	CA515264171	SHANK3	c.3774A>C (p.Glu1258Asp) n.4358A>C c.2826A>C (p.Glu942Asp) c.2316A>C (p.Glu772Asp) c.2772A>C (n.2772A>C) c.4170A>C (p.Glu1390Asp) c.4152A>C (p.Glu1384Asp)	gnomAD v4
22	g.50722006A>G	CA325579843	SHANK3	c.3774A>G (p.Glu1258=) n.4358A>G c.2826A>G (p.Glu942=) c.2316A>G (p.Glu772=) c.2772A>G (n.2772A>G) c.4170A>G (p.Glu1390=) c.4152A>G (p.Glu1384=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722006A>T	CA10326214	SHANK3	c.3774A>T (p.Glu1258Asp) n.4358A>T c.2826A>T (p.Glu942Asp) c.2316A>T (p.Glu772Asp) c.2772A>T (n.2772A>T) c.4170A>T (p.Glu1390Asp) c.4152A>T (p.Glu1384Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722009_50722012del	CA2499226245	SHANK3	c.3777_3780del (p.Asp1261ProfsTer?) n.4361_4364del c.2829_2832del (p.Asp945ProfsTer?) c.2319_2322del (p.Asp775ProfsTer?) c.2775_2778del (n.2775_2778del) c.4173_4176del (p.Asp1393ProfsTer?) c.4155_4158del (p.Asp1387ProfsTer?)	ClinVar dbSNP
22	g.50722007C>A	CA515264172	SHANK3	c.3775C>A (p.Leu1259Ile) n.4359C>A c.2827C>A (p.Leu943Ile) c.2317C>A (p.Leu773Ile) c.2773C>A (n.2773C>A) c.4171C>A (p.Leu1391Ile) c.4153C>A (p.Leu1385Ile)
22	g.50722007C>G	CA515264174	SHANK3	c.3775C>G (p.Leu1259Val) n.4359C>G c.2827C>G (p.Leu943Val) c.2317C>G (p.Leu773Val) c.2773C>G (n.2773C>G) c.4171C>G (p.Leu1391Val) c.4153C>G (p.Leu1385Val)
22	g.50722007C>T	CA515264173	SHANK3	c.3775C>T (p.Leu1259Phe) n.4359C>T c.2827C>T (p.Leu943Phe) c.2317C>T (p.Leu773Phe) c.2773C>T (n.2773C>T) c.4171C>T (p.Leu1391Phe) c.4153C>T (p.Leu1385Phe)
22	g.50722008T>A	CA515264175	SHANK3	c.3776T>A (p.Leu1259His) n.4360T>A c.2828T>A (p.Leu943His) c.2318T>A (p.Leu773His) c.2774T>A (n.2774T>A) c.4172T>A (p.Leu1391His) c.4154T>A (p.Leu1385His)
22	g.50722008T>C	CA325579847	SHANK3	c.3776T>C (p.Leu1259Pro) n.4360T>C c.2828T>C (p.Leu943Pro) c.2318T>C (p.Leu773Pro) c.2774T>C (n.2774T>C) c.4172T>C (p.Leu1391Pro) c.4154T>C (p.Leu1385Pro)	dbSNP
22	g.50722008T>G	CA515264176	SHANK3	c.3776T>G (p.Leu1259Arg) n.4360T>G c.2828T>G (p.Leu943Arg) c.2318T>G (p.Leu773Arg) c.2774T>G (n.2774T>G) c.4172T>G (p.Leu1391Arg) c.4154T>G (p.Leu1385Arg)
22	g.50722008T=	CA2411008576	SHANK3	c.3776T= (p.Leu1259=) n.4360T= c.2828T= (p.Leu943=) c.2318T= (p.Leu773=) c.2774T= (n.2774T=) c.4172T= (p.Leu1391=) c.4154T= (p.Leu1385=)
22	g.50722009C>A	CA325579850	SHANK3	c.3777C>A (p.Leu1259=) n.4361C>A c.2829C>A (p.Leu943=) c.2319C>A (p.Leu773=) c.2775C>A (n.2775C>A) c.4173C>A (p.Leu1391=) c.4155C>A (p.Leu1385=)	dbSNP gnomAD v4
22	g.50722009C=	CA2411008577	SHANK3	c.3777C= (p.Leu1259=) n.4361C= c.2829C= (p.Leu943=) c.2319C= (p.Leu773=) c.2775C= (n.2775C=) c.4173C= (p.Leu1391=) c.4155C= (p.Leu1385=)
22	g.50722009C>G	CA515264177	SHANK3	c.3777C>G (p.Leu1259=) n.4361C>G c.2829C>G (p.Leu943=) c.2319C>G (p.Leu773=) c.2775C>G (n.2775C>G) c.4173C>G (p.Leu1391=) c.4155C>G (p.Leu1385=)	ClinVar dbSNP gnomAD v4
22	g.50722009C>T	CA515264178	SHANK3	c.3777C>T (p.Leu1259=) n.4361C>T c.2829C>T (p.Leu943=) c.2319C>T (p.Leu773=) c.2775C>T (n.2775C>T) c.4173C>T (p.Leu1391=) c.4155C>T (p.Leu1385=)	dbSNP
22	g.50722010A=	CA2411008578	SHANK3	c.3778A= (p.Thr1260=) n.4362A= c.2830A= (p.Thr944=) c.2320A= (p.Thr774=) c.2776A= (n.2776A=) c.4174A= (p.Thr1392=) c.4156A= (p.Thr1386=)
22	g.50722010A>C	CA515264179	SHANK3	c.3778A>C (p.Thr1260Pro) n.4362A>C c.2830A>C (p.Thr944Pro) c.2320A>C (p.Thr774Pro) c.2776A>C (n.2776A>C) c.4174A>C (p.Thr1392Pro) c.4156A>C (p.Thr1386Pro)
22	g.50722010A>G	CA515264180	SHANK3	c.3778A>G (p.Thr1260Ala) n.4362A>G c.2830A>G (p.Thr944Ala) c.2320A>G (p.Thr774Ala) c.2776A>G (n.2776A>G) c.4174A>G (p.Thr1392Ala) c.4156A>G (p.Thr1386Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50722010A>T	CA515264181	SHANK3	c.3778A>T (p.Thr1260Ser) n.4362A>T c.2830A>T (p.Thr944Ser) c.2320A>T (p.Thr774Ser) c.2776A>T (n.2776A>T) c.4174A>T (p.Thr1392Ser) c.4156A>T (p.Thr1386Ser)
22	g.50722011C>A	CA515264182	SHANK3	c.3779C>A (p.Thr1260Asn) n.4363C>A c.2831C>A (p.Thr944Asn) c.2321C>A (p.Thr774Asn) c.2777C>A (n.2777C>A) c.4175C>A (p.Thr1392Asn) c.4157C>A (p.Thr1386Asn)
22	g.50722011C>G	CA515264183	SHANK3	c.3779C>G (p.Thr1260Ser) n.4363C>G c.2831C>G (p.Thr944Ser) c.2321C>G (p.Thr774Ser) c.2777C>G (n.2777C>G) c.4175C>G (p.Thr1392Ser) c.4157C>G (p.Thr1386Ser)	gnomAD v4
22	g.50722011C>T	CA515264184	SHANK3	c.3779C>T (p.Thr1260Ile) n.4363C>T c.2831C>T (p.Thr944Ile) c.2321C>T (p.Thr774Ile) c.2777C>T (n.2777C>T) c.4175C>T (p.Thr1392Ile) c.4157C>T (p.Thr1386Ile)
22	g.50722012T>A	CA515264185	SHANK3	c.3780T>A (p.Thr1260=) n.4364T>A c.2832T>A (p.Thr944=) c.2322T>A (p.Thr774=) c.2778T>A (n.2778T>A) c.4176T>A (p.Thr1392=) c.4158T>A (p.Thr1386=)	gnomAD v4
22	g.50722012T>C	CA10326215	SHANK3	c.3780T>C (p.Thr1260=) n.4364T>C c.2832T>C (p.Thr944=) c.2322T>C (p.Thr774=) c.2778T>C (n.2778T>C) c.4176T>C (p.Thr1392=) c.4158T>C (p.Thr1386=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722012T>G	CA515264186	SHANK3	c.3780T>G (p.Thr1260=) n.4364T>G c.2832T>G (p.Thr944=) c.2322T>G (p.Thr774=) c.2778T>G (n.2778T>G) c.4176T>G (p.Thr1392=) c.4158T>G (p.Thr1386=)
22	g.50722012T=	CA2411008579	SHANK3	c.3780T= (p.Thr1260=) n.4364T= c.2832T= (p.Thr944=) c.2322T= (p.Thr774=) c.2778T= (n.2778T=) c.4176T= (p.Thr1392=) c.4158T= (p.Thr1386=)
22	g.50722013G>A	CA10326216	SHANK3	c.3781G>A (p.Asp1261Asn) n.4365G>A c.2833G>A (p.Asp945Asn) c.2323G>A (p.Asp775Asn) c.2779G>A (n.2779G>A) c.4177G>A (p.Asp1393Asn) c.4159G>A (p.Asp1387Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722013G>C	CA515264187	SHANK3	c.3781G>C (p.Asp1261His) n.4365G>C c.2833G>C (p.Asp945His) c.2323G>C (p.Asp775His) c.2779G>C (n.2779G>C) c.4177G>C (p.Asp1393His) c.4159G>C (p.Asp1387His)
22	g.50722013G=	CA2411008580	SHANK3	c.3781G= (p.Asp1261=) n.4365G= c.2833G= (p.Asp945=) c.2323G= (p.Asp775=) c.2779G= (n.2779G=) c.4177G= (p.Asp1393=) c.4159G= (p.Asp1387=)
22	g.50722013G>T	CA515264188	SHANK3	c.3781G>T (p.Asp1261Tyr) n.4365G>T c.2833G>T (p.Asp945Tyr) c.2323G>T (p.Asp775Tyr) c.2779G>T (n.2779G>T) c.4177G>T (p.Asp1393Tyr) c.4159G>T (p.Asp1387Tyr)
22	g.50722014A>C	CA515264189	SHANK3	c.3782A>C (p.Asp1261Ala) n.4366A>C c.2834A>C (p.Asp945Ala) c.2324A>C (p.Asp775Ala) c.2780A>C (n.2780A>C) c.4178A>C (p.Asp1393Ala) c.4160A>C (p.Asp1387Ala)
22	g.50722014A>G	CA515264190	SHANK3	c.3782A>G (p.Asp1261Gly) n.4366A>G c.2834A>G (p.Asp945Gly) c.2324A>G (p.Asp775Gly) c.2780A>G (n.2780A>G) c.4178A>G (p.Asp1393Gly) c.4160A>G (p.Asp1387Gly)
22	g.50722014A>T	CA515264191	SHANK3	c.3782A>T (p.Asp1261Val) n.4366A>T c.2834A>T (p.Asp945Val) c.2324A>T (p.Asp775Val) c.2780A>T (n.2780A>T) c.4178A>T (p.Asp1393Val) c.4160A>T (p.Asp1387Val)
22	g.50722015C>A	CA515264192	SHANK3	c.3783C>A (p.Asp1261Glu) n.4367C>A c.2835C>A (p.Asp945Glu) c.2325C>A (p.Asp775Glu) c.2781C>A (n.2781C>A) c.4179C>A (p.Asp1393Glu) c.4161C>A (p.Asp1387Glu)
22	g.50722015C=	CA2411008581	SHANK3	c.3783C= (p.Asp1261=) n.4367C= c.2835C= (p.Asp945=) c.2325C= (p.Asp775=) c.2781C= (n.2781C=) c.4179C= (p.Asp1393=) c.4161C= (p.Asp1387=)
22	g.50722015C>G	CA515264193	SHANK3	c.3783C>G (p.Asp1261Glu) n.4367C>G c.2835C>G (p.Asp945Glu) c.2325C>G (p.Asp775Glu) c.2781C>G (n.2781C>G) c.4179C>G (p.Asp1393Glu) c.4161C>G (p.Asp1387Glu)
22	g.50722015C>T	CA10326217	SHANK3	c.3783C>T (p.Asp1261=) n.4367C>T c.2835C>T (p.Asp945=) c.2325C>T (p.Asp775=) c.2781C>T (n.2781C>T) c.4179C>T (p.Asp1393=) c.4161C>T (p.Asp1387=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722016A>C	CA515264196	SHANK3	c.3784A>C (p.Thr1262Pro) n.4368A>C c.2836A>C (p.Thr946Pro) c.2326A>C (p.Thr776Pro) c.2782A>C (n.2782A>C) c.4180A>C (p.Thr1394Pro) c.4162A>C (p.Thr1388Pro)
22	g.50722016A>G	CA515264195	SHANK3	c.3784A>G (p.Thr1262Ala) n.4368A>G c.2836A>G (p.Thr946Ala) c.2326A>G (p.Thr776Ala) c.2782A>G (n.2782A>G) c.4180A>G (p.Thr1394Ala) c.4162A>G (p.Thr1388Ala)
22	g.50722016A>T	CA515264194	SHANK3	c.3784A>T (p.Thr1262Ser) n.4368A>T c.2836A>T (p.Thr946Ser) c.2326A>T (p.Thr776Ser) c.2782A>T (n.2782A>T) c.4180A>T (p.Thr1394Ser) c.4162A>T (p.Thr1388Ser)
22	g.50722017C>A	CA515264197	SHANK3	c.3785C>A (p.Thr1262Asn) n.4369C>A c.2837C>A (p.Thr946Asn) c.2327C>A (p.Thr776Asn) c.2783C>A (n.2783C>A) c.4181C>A (p.Thr1394Asn) c.4163C>A (p.Thr1388Asn)
22	g.50722017C>G	CA515264198	SHANK3	c.3785C>G (p.Thr1262Ser) n.4369C>G c.2837C>G (p.Thr946Ser) c.2327C>G (p.Thr776Ser) c.2783C>G (n.2783C>G) c.4181C>G (p.Thr1394Ser) c.4163C>G (p.Thr1388Ser)
22	g.50722017C>T	CA515264199	SHANK3	c.3785C>T (p.Thr1262Ile) n.4369C>T c.2837C>T (p.Thr946Ile) c.2327C>T (p.Thr776Ile) c.2783C>T (n.2783C>T) c.4181C>T (p.Thr1394Ile) c.4163C>T (p.Thr1388Ile)
22	g.50722018C>A	CA515264200	SHANK3	c.3786C>A (p.Thr1262=) n.4370C>A c.2838C>A (p.Thr946=) c.2328C>A (p.Thr776=) c.2784C>A (n.2784C>A) c.4182C>A (p.Thr1394=) c.4164C>A (p.Thr1388=)
22	g.50722018C=	CA2411008582	SHANK3	c.3786C= (p.Thr1262=) n.4370C= c.2838C= (p.Thr946=) c.2328C= (p.Thr776=) c.2784C= (n.2784C=) c.4182C= (p.Thr1394=) c.4164C= (p.Thr1388=)
22	g.50722018C>G	CA515264201	SHANK3	c.3786C>G (p.Thr1262=) n.4370C>G c.2838C>G (p.Thr946=) c.2328C>G (p.Thr776=) c.2784C>G (n.2784C>G) c.4182C>G (p.Thr1394=) c.4164C>G (p.Thr1388=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722018C>T	CA10326218	SHANK3	c.3786C>T (p.Thr1262=) n.4370C>T c.2838C>T (p.Thr946=) c.2328C>T (p.Thr776=) c.2784C>T (n.2784C>T) c.4182C>T (p.Thr1394=) c.4164C>T (p.Thr1388=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722019C>A	CA515264202	SHANK3	c.3787C>A (p.His1263Asn) n.4371C>A c.2839C>A (p.His947Asn) c.2329C>A (p.His777Asn) c.2785C>A (n.2785C>A) c.4183C>A (p.His1395Asn) c.4165C>A (p.His1389Asn)
22	g.50722019C>G	CA515264203	SHANK3	c.3787C>G (p.His1263Asp) n.4371C>G c.2839C>G (p.His947Asp) c.2329C>G (p.His777Asp) c.2785C>G (n.2785C>G) c.4183C>G (p.His1395Asp) c.4165C>G (p.His1389Asp)
22	g.50722019C>T	CA515264205	SHANK3	c.3787C>T (p.His1263Tyr) n.4371C>T c.2839C>T (p.His947Tyr) c.2329C>T (p.His777Tyr) c.2785C>T (n.2785C>T) c.4183C>T (p.His1395Tyr) c.4165C>T (p.His1389Tyr)
22	g.50722020A=	CA2411008583	SHANK3	c.3788A= (p.His1263=) n.4372A= c.2840A= (p.His947=) c.2330A= (p.His777=) c.2786A= (n.2786A=) c.4184A= (p.His1395=) c.4166A= (p.His1389=)
22	g.50722020A>C	CA515264206	SHANK3	c.3788A>C (p.His1263Pro) n.4372A>C c.2840A>C (p.His947Pro) c.2330A>C (p.His777Pro) c.2786A>C (n.2786A>C) c.4184A>C (p.His1395Pro) c.4166A>C (p.His1389Pro)
22	g.50722020A>G	CA515264207	SHANK3	c.3788A>G (p.His1263Arg) n.4372A>G c.2840A>G (p.His947Arg) c.2330A>G (p.His777Arg) c.2786A>G (n.2786A>G) c.4184A>G (p.His1395Arg) c.4166A>G (p.His1389Arg)	dbSNP
22	g.50722020A>T	CA515264208	SHANK3	c.3788A>T (p.His1263Leu) n.4372A>T c.2840A>T (p.His947Leu) c.2330A>T (p.His777Leu) c.2786A>T (n.2786A>T) c.4184A>T (p.His1395Leu) c.4166A>T (p.His1389Leu)
22	g.50722021C>A	CA515264212	SHANK3	c.3789C>A (p.His1263Gln) n.4373C>A c.2841C>A (p.His947Gln) c.2331C>A (p.His777Gln) c.2787C>A (n.2787C>A) c.4185C>A (p.His1395Gln) c.4167C>A (p.His1389Gln)
22	g.50722021C>G	CA515264209	SHANK3	c.3789C>G (p.His1263Gln) n.4373C>G c.2841C>G (p.His947Gln) c.2331C>G (p.His777Gln) c.2787C>G (n.2787C>G) c.4185C>G (p.His1395Gln) c.4167C>G (p.His1389Gln)
22	g.50722021C>T	CA515264211	SHANK3	c.3789C>T (p.His1263=) n.4373C>T c.2841C>T (p.His947=) c.2331C>T (p.His777=) c.2787C>T (n.2787C>T) c.4185C>T (p.His1395=) c.4167C>T (p.His1389=)	gnomAD v4
22	g.50722022A=	CA2411008584	SHANK3	c.3790A= (p.Thr1264=) n.4374A= c.2842A= (p.Thr948=) c.2332A= (p.Thr778=) c.2788A= (n.2788A=) c.4186A= (p.Thr1396=) c.4168A= (p.Thr1390=)
22	g.50722022A>C	CA515264213	SHANK3	c.3790A>C (p.Thr1264Pro) n.4374A>C c.2842A>C (p.Thr948Pro) c.2332A>C (p.Thr778Pro) c.2788A>C (n.2788A>C) c.4186A>C (p.Thr1396Pro) c.4168A>C (p.Thr1390Pro)
22	g.50722022A>G	CA515264214	SHANK3	c.3790A>G (p.Thr1264Ala) n.4374A>G c.2842A>G (p.Thr948Ala) c.2332A>G (p.Thr778Ala) c.2788A>G (n.2788A>G) c.4186A>G (p.Thr1396Ala) c.4168A>G (p.Thr1390Ala)	dbSNP
22	g.50722022A>T	CA515264215	SHANK3	c.3790A>T (p.Thr1264Ser) n.4374A>T c.2842A>T (p.Thr948Ser) c.2332A>T (p.Thr778Ser) c.2788A>T (n.2788A>T) c.4186A>T (p.Thr1396Ser) c.4168A>T (p.Thr1390Ser)
22	g.50722023C>A	CA515264216	SHANK3	c.3791C>A (p.Thr1264Asn) n.4375C>A c.2843C>A (p.Thr948Asn) c.2333C>A (p.Thr778Asn) c.2789C>A (n.2789C>A) c.4187C>A (p.Thr1396Asn) c.4169C>A (p.Thr1390Asn)	gnomAD v4
22	g.50722023C=	CA2411008585	SHANK3	c.3791C= (p.Thr1264=) n.4375C= c.2843C= (p.Thr948=) c.2333C= (p.Thr778=) c.2789C= (n.2789C=) c.4187C= (p.Thr1396=) c.4169C= (p.Thr1390=)
22	g.50722023C>G	CA515264217	SHANK3	c.3791C>G (p.Thr1264Ser) n.4375C>G c.2843C>G (p.Thr948Ser) c.2333C>G (p.Thr778Ser) c.2789C>G (n.2789C>G) c.4187C>G (p.Thr1396Ser) c.4169C>G (p.Thr1390Ser)
22	g.50722023C>T	CA515264218	SHANK3	c.3791C>T (p.Thr1264Ile) n.4375C>T c.2843C>T (p.Thr948Ile) c.2333C>T (p.Thr778Ile) c.2789C>T (n.2789C>T) c.4187C>T (p.Thr1396Ile) c.4169C>T (p.Thr1390Ile)	dbSNP gnomAD v3 gnomAD v4
22	g.50722024C>A	CA515264219	SHANK3	c.3792C>A (p.Thr1264=) n.4376C>A c.2844C>A (p.Thr948=) c.2334C>A (p.Thr778=) c.2790C>A (n.2790C>A) c.4188C>A (p.Thr1396=) c.4170C>A (p.Thr1390=)
22	g.50722024C=	CA2411008586	SHANK3	c.3792C= (p.Thr1264=) n.4376C= c.2844C= (p.Thr948=) c.2334C= (p.Thr778=) c.2790C= (n.2790C=) c.4188C= (p.Thr1396=) c.4170C= (p.Thr1390=)
22	g.50722024C>G	CA515264220	SHANK3	c.3792C>G (p.Thr1264=) n.4376C>G c.2844C>G (p.Thr948=) c.2334C>G (p.Thr778=) c.2790C>G (n.2790C>G) c.4188C>G (p.Thr1396=) c.4170C>G (p.Thr1390=)
22	g.50722024C>T	CA10326219	SHANK3	c.3792C>T (p.Thr1264=) n.4376C>T c.2844C>T (p.Thr948=) c.2334C>T (p.Thr778=) c.2790C>T (n.2790C>T) c.4188C>T (p.Thr1396=) c.4170C>T (p.Thr1390=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722025T>A	CA515264221	SHANK3	c.3793T>A (p.Ser1265Thr) n.4377T>A c.2845T>A (p.Ser949Thr) c.2335T>A (p.Ser779Thr) c.2791T>A (n.2791T>A) c.4189T>A (p.Ser1397Thr) c.4171T>A (p.Ser1391Thr)
22	g.50722025T>C	CA515264222	SHANK3	c.3793T>C (p.Ser1265Pro) n.4377T>C c.2845T>C (p.Ser949Pro) c.2335T>C (p.Ser779Pro) c.2791T>C (n.2791T>C) c.4189T>C (p.Ser1397Pro) c.4171T>C (p.Ser1391Pro)
22	g.50722025T>G	CA515264223	SHANK3	c.3793T>G (p.Ser1265Ala) n.4377T>G c.2845T>G (p.Ser949Ala) c.2335T>G (p.Ser779Ala) c.2791T>G (n.2791T>G) c.4189T>G (p.Ser1397Ala) c.4171T>G (p.Ser1391Ala)
22	g.50722026C>A	CA515264225	SHANK3	c.3794C>A (p.Ser1265Tyr) n.4378C>A c.2846C>A (p.Ser949Tyr) c.2336C>A (p.Ser779Tyr) c.2792C>A (n.2792C>A) c.4190C>A (p.Ser1397Tyr) c.4172C>A (p.Ser1391Tyr)
22	g.50722026C>G	CA515264226	SHANK3	c.3794C>G (p.Ser1265Cys) n.4378C>G c.2846C>G (p.Ser949Cys) c.2336C>G (p.Ser779Cys) c.2792C>G (n.2792C>G) c.4190C>G (p.Ser1397Cys) c.4172C>G (p.Ser1391Cys)
22	g.50722026C>T	CA515264224	SHANK3	c.3794C>T (p.Ser1265Phe) n.4378C>T c.2846C>T (p.Ser949Phe) c.2336C>T (p.Ser779Phe) c.2792C>T (n.2792C>T) c.4190C>T (p.Ser1397Phe) c.4172C>T (p.Ser1391Phe)
22	g.50722027C>A	CA515264228	SHANK3	c.3795C>A (p.Ser1265=) n.4379C>A c.2847C>A (p.Ser949=) c.2337C>A (p.Ser779=) c.2793C>A (n.2793C>A) c.4191C>A (p.Ser1397=) c.4173C>A (p.Ser1391=)
22	g.50722027C>G	CA515264227	SHANK3	c.3795C>G (p.Ser1265=) n.4379C>G c.2847C>G (p.Ser949=) c.2337C>G (p.Ser779=) c.2793C>G (n.2793C>G) c.4191C>G (p.Ser1397=) c.4173C>G (p.Ser1391=)	gnomAD v4
22	g.50722027C>T	CA515264229	SHANK3	c.3795C>T (p.Ser1265=) n.4379C>T c.2847C>T (p.Ser949=) c.2337C>T (p.Ser779=) c.2793C>T (n.2793C>T) c.4191C>T (p.Ser1397=) c.4173C>T (p.Ser1391=)
22	g.50722028T>A	CA515264230	SHANK3	c.3796T>A (p.Phe1266Ile) n.4380T>A c.2848T>A (p.Phe950Ile) c.2338T>A (p.Phe780Ile) c.2794T>A (n.2794T>A) c.4192T>A (p.Phe1398Ile) c.4174T>A (p.Phe1392Ile)
22	g.50722028T>C	CA515264231	SHANK3	c.3796T>C (p.Phe1266Leu) n.4380T>C c.2848T>C (p.Phe950Leu) c.2338T>C (p.Phe780Leu) c.2794T>C (n.2794T>C) c.4192T>C (p.Phe1398Leu) c.4174T>C (p.Phe1392Leu)
22	g.50722028T>G	CA515264232	SHANK3	c.3796T>G (p.Phe1266Val) n.4380T>G c.2848T>G (p.Phe950Val) c.2338T>G (p.Phe780Val) c.2794T>G (n.2794T>G) c.4192T>G (p.Phe1398Val) c.4174T>G (p.Phe1392Val)
22	g.50722029T>A	CA515264233	SHANK3	c.3797T>A (p.Phe1266Tyr) n.4381T>A c.2849T>A (p.Phe950Tyr) c.2339T>A (p.Phe780Tyr) c.2795T>A (n.2795T>A) c.4193T>A (p.Phe1398Tyr) c.4175T>A (p.Phe1392Tyr)
22	g.50722029T>C	CA515264234	SHANK3	c.3797T>C (p.Phe1266Ser) n.4381T>C c.2849T>C (p.Phe950Ser) c.2339T>C (p.Phe780Ser) c.2795T>C (n.2795T>C) c.4193T>C (p.Phe1398Ser) c.4175T>C (p.Phe1392Ser)
22	g.50722029T>G	CA515264235	SHANK3	c.3797T>G (p.Phe1266Cys) n.4381T>G c.2849T>G (p.Phe950Cys) c.2339T>G (p.Phe780Cys) c.2795T>G (n.2795T>G) c.4193T>G (p.Phe1398Cys) c.4175T>G (p.Phe1392Cys)
22	g.50722030C>A	CA515264236	SHANK3	c.3798C>A (p.Phe1266Leu) n.4382C>A c.2850C>A (p.Phe950Leu) c.2340C>A (p.Phe780Leu) c.2796C>A (n.2796C>A) c.4194C>A (p.Phe1398Leu) c.4176C>A (p.Phe1392Leu)	gnomAD v4
22	g.50722030C=	CA2411008587	SHANK3	c.3798C= (p.Phe1266=) n.4382C= c.2850C= (p.Phe950=) c.2340C= (p.Phe780=) c.2796C= (n.2796C=) c.4194C= (p.Phe1398=) c.4176C= (p.Phe1392=)
22	g.50722030C>G	CA515264237	SHANK3	c.3798C>G (p.Phe1266Leu) n.4382C>G c.2850C>G (p.Phe950Leu) c.2340C>G (p.Phe780Leu) c.2796C>G (n.2796C>G) c.4194C>G (p.Phe1398Leu) c.4176C>G (p.Phe1392Leu)
22	g.50722030C>T	CA10326220	SHANK3	c.3798C>T (p.Phe1266=) n.4382C>T c.2850C>T (p.Phe950=) c.2340C>T (p.Phe780=) c.2796C>T (n.2796C>T) c.4194C>T (p.Phe1398=) c.4176C>T (p.Phe1392=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722031G>A	CA325579927	SHANK3	c.3799G>A (p.Ala1267Thr) n.4383G>A c.2851G>A (p.Ala951Thr) c.2341G>A (p.Ala781Thr) c.2797G>A (n.2797G>A) c.4195G>A (p.Ala1399Thr) c.4177G>A (p.Ala1393Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722031G>C	CA515264238	SHANK3	c.3799G>C (p.Ala1267Pro) n.4383G>C c.2851G>C (p.Ala951Pro) c.2341G>C (p.Ala781Pro) c.2797G>C (n.2797G>C) c.4195G>C (p.Ala1399Pro) c.4177G>C (p.Ala1393Pro)
22	g.50722031G=	CA2411008588	SHANK3	c.3799G= (p.Ala1267=) n.4383G= c.2851G= (p.Ala951=) c.2341G= (p.Ala781=) c.2797G= (n.2797G=) c.4195G= (p.Ala1399=) c.4177G= (p.Ala1393=)
22	g.50722031G>T	CA515264239	SHANK3	c.3799G>T (p.Ala1267Ser) n.4383G>T c.2851G>T (p.Ala951Ser) c.2341G>T (p.Ala781Ser) c.2797G>T (n.2797G>T) c.4195G>T (p.Ala1399Ser) c.4177G>T (p.Ala1393Ser)
22	g.50722032C>A	CA515264242	SHANK3	c.3800C>A (p.Ala1267Asp) n.4384C>A c.2852C>A (p.Ala951Asp) c.2342C>A (p.Ala781Asp) c.2798C>A (n.2798C>A) c.4196C>A (p.Ala1399Asp) c.4178C>A (p.Ala1393Asp)
22	g.50722032C>G	CA515264241	SHANK3	c.3800C>G (p.Ala1267Gly) n.4384C>G c.2852C>G (p.Ala951Gly) c.2342C>G (p.Ala781Gly) c.2798C>G (n.2798C>G) c.4196C>G (p.Ala1399Gly) c.4178C>G (p.Ala1393Gly)
22	g.50722032C>T	CA515264240	SHANK3	c.3800C>T (p.Ala1267Val) n.4384C>T c.2852C>T (p.Ala951Val) c.2342C>T (p.Ala781Val) c.2798C>T (n.2798C>T) c.4196C>T (p.Ala1399Val) c.4178C>T (p.Ala1393Val)
22	g.50722033T>A	CA515264243	SHANK3	c.3801T>A (p.Ala1267=) n.4385T>A c.2853T>A (p.Ala951=) c.2343T>A (p.Ala781=) c.2799T>A (n.2799T>A) c.4197T>A (p.Ala1399=) c.4179T>A (p.Ala1393=)
22	g.50722033T>C	CA515264244	SHANK3	c.3801T>C (p.Ala1267=) n.4385T>C c.2853T>C (p.Ala951=) c.2343T>C (p.Ala781=) c.2799T>C (n.2799T>C) c.4197T>C (p.Ala1399=) c.4179T>C (p.Ala1393=)
22	g.50722033T>G	CA515264245	SHANK3	c.3801T>G (p.Ala1267=) n.4385T>G c.2853T>G (p.Ala951=) c.2343T>G (p.Ala781=) c.2799T>G (n.2799T>G) c.4197T>G (p.Ala1399=) c.4179T>G (p.Ala1393=)
22	g.50722034G>A	CA515264246	SHANK3	c.3802G>A (p.Asp1268Asn) n.4386G>A c.2854G>A (p.Asp952Asn) c.2344G>A (p.Asp782Asn) c.2800G>A (n.2800G>A) c.4198G>A (p.Asp1400Asn) c.4180G>A (p.Asp1394Asn)
22	g.50722034G>C	CA515264247	SHANK3	c.3802G>C (p.Asp1268His) n.4386G>C c.2854G>C (p.Asp952His) c.2344G>C (p.Asp782His) c.2800G>C (n.2800G>C) c.4198G>C (p.Asp1400His) c.4180G>C (p.Asp1394His)
22	g.50722034G>T	CA515264248	SHANK3	c.3802G>T (p.Asp1268Tyr) n.4386G>T c.2854G>T (p.Asp952Tyr) c.2344G>T (p.Asp782Tyr) c.2800G>T (n.2800G>T) c.4198G>T (p.Asp1400Tyr) c.4180G>T (p.Asp1394Tyr)
22	g.50722035A>C	CA515264249	SHANK3	c.3803A>C (p.Asp1268Ala) n.4387A>C c.2855A>C (p.Asp952Ala) c.2345A>C (p.Asp782Ala) c.2801A>C (n.2801A>C) c.4199A>C (p.Asp1400Ala) c.4181A>C (p.Asp1394Ala)
22	g.50722035A>G	CA515264250	SHANK3	c.3803A>G (p.Asp1268Gly) n.4387A>G c.2855A>G (p.Asp952Gly) c.2345A>G (p.Asp782Gly) c.2801A>G (n.2801A>G) c.4199A>G (p.Asp1400Gly) c.4181A>G (p.Asp1394Gly)
22	g.50722035A>T	CA515264251	SHANK3	c.3803A>T (p.Asp1268Val) n.4387A>T c.2855A>T (p.Asp952Val) c.2345A>T (p.Asp782Val) c.2801A>T (n.2801A>T) c.4199A>T (p.Asp1400Val) c.4181A>T (p.Asp1394Val)
22	g.50722036C>A	CA515264252	SHANK3	c.3804C>A (p.Asp1268Glu) n.4388C>A c.2856C>A (p.Asp952Glu) c.2346C>A (p.Asp782Glu) c.2802C>A (n.2802C>A) c.4200C>A (p.Asp1400Glu) c.4182C>A (p.Asp1394Glu)
22	g.50722036C=	CA2411008589	SHANK3	c.3804C= (p.Asp1268=) n.4388C= c.2856C= (p.Asp952=) c.2346C= (p.Asp782=) c.2802C= (n.2802C=) c.4200C= (p.Asp1400=) c.4182C= (p.Asp1394=)
22	g.50722036C>G	CA515264253	SHANK3	c.3804C>G (p.Asp1268Glu) n.4388C>G c.2856C>G (p.Asp952Glu) c.2346C>G (p.Asp782Glu) c.2802C>G (n.2802C>G) c.4200C>G (p.Asp1400Glu) c.4182C>G (p.Asp1394Glu)
22	g.50722036C>T	CA10326221	SHANK3	c.3804C>T (p.Asp1268=) n.4388C>T c.2856C>T (p.Asp952=) c.2346C>T (p.Asp782=) c.2802C>T (n.2802C>T) c.4200C>T (p.Asp1400=) c.4182C>T (p.Asp1394=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722037G>A	CA10326222	SHANK3	c.3805G>A (p.Gly1269Arg) n.4389G>A c.2857G>A (p.Gly953Arg) c.2347G>A (p.Gly783Arg) c.2803G>A (n.2803G>A) c.4201G>A (p.Gly1401Arg) c.4183G>A (p.Gly1395Arg)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50722037G>C	CA515264255	SHANK3	c.3805G>C (p.Gly1269Arg) n.4389G>C c.2857G>C (p.Gly953Arg) c.2347G>C (p.Gly783Arg) c.2803G>C (n.2803G>C) c.4201G>C (p.Gly1401Arg) c.4183G>C (p.Gly1395Arg)
22	g.50722037G=	CA2411008590	SHANK3	c.3805G= (p.Gly1269=) n.4389G= c.2857G= (p.Gly953=) c.2347G= (p.Gly783=) c.2803G= (n.2803G=) c.4201G= (p.Gly1401=) c.4183G= (p.Gly1395=)
22	g.50722037G>T	CA515264254	SHANK3	c.3805G>T (p.Gly1269Ter) n.4389G>T c.2857G>T (p.Gly953Ter) c.2347G>T (p.Gly783Ter) c.2803G>T (n.2803G>T) c.4201G>T (p.Gly1401Ter) c.4183G>T (p.Gly1395Ter)
22	g.50722038G>A	CA515264256	SHANK3	c.3806G>A (p.Gly1269Glu) n.4390G>A c.2858G>A (p.Gly953Glu) c.2348G>A (p.Gly783Glu) c.2804G>A (n.2804G>A) c.4202G>A (p.Gly1401Glu) c.4184G>A (p.Gly1395Glu)
22	g.50722038G>C	CA515264257	SHANK3	c.3806G>C (p.Gly1269Ala) n.4390G>C c.2858G>C (p.Gly953Ala) c.2348G>C (p.Gly783Ala) c.2804G>C (n.2804G>C) c.4202G>C (p.Gly1401Ala) c.4184G>C (p.Gly1395Ala)
22	g.50722038G>T	CA515264258	SHANK3	c.3806G>T (p.Gly1269Val) n.4390G>T c.2858G>T (p.Gly953Val) c.2348G>T (p.Gly783Val) c.2804G>T (n.2804G>T) c.4202G>T (p.Gly1401Val) c.4184G>T (p.Gly1395Val)
22	g.50722039A>C	CA515264259	SHANK3	c.3807A>C (p.Gly1269=) n.4391A>C c.2859A>C (p.Gly953=) c.2349A>C (p.Gly783=) c.2805A>C (n.2805A>C) c.4203A>C (p.Gly1401=) c.4185A>C (p.Gly1395=)
22	g.50722039A>G	CA515264260	SHANK3	c.3807A>G (p.Gly1269=) n.4391A>G c.2859A>G (p.Gly953=) c.2349A>G (p.Gly783=) c.2805A>G (n.2805A>G) c.4203A>G (p.Gly1401=) c.4185A>G (p.Gly1395=)	gnomAD v4
22	g.50722039A>T	CA515264261	SHANK3	c.3807A>T (p.Gly1269=) n.4391A>T c.2859A>T (p.Gly953=) c.2349A>T (p.Gly783=) c.2805A>T (n.2805A>T) c.4203A>T (p.Gly1401=) c.4185A>T (p.Gly1395=)
22	g.50722040C>A	CA515264262	SHANK3	c.3808C>A (p.His1270Asn) n.4392C>A c.2860C>A (p.His954Asn) c.2350C>A (p.His784Asn) c.2806C>A (n.2806C>A) c.4204C>A (p.His1402Asn) c.4186C>A (p.His1396Asn)
22	g.50722040C>G	CA515264263	SHANK3	c.3808C>G (p.His1270Asp) n.4392C>G c.2860C>G (p.His954Asp) c.2350C>G (p.His784Asp) c.2806C>G (n.2806C>G) c.4204C>G (p.His1402Asp) c.4186C>G (p.His1396Asp)
22	g.50722040C>T	CA515264264	SHANK3	c.3808C>T (p.His1270Tyr) n.4392C>T c.2860C>T (p.His954Tyr) c.2350C>T (p.His784Tyr) c.2806C>T (n.2806C>T) c.4204C>T (p.His1402Tyr) c.4186C>T (p.His1396Tyr)	dbSNP
22	g.50722041A>C	CA515264265	SHANK3	c.3809A>C (p.His1270Pro) n.4393A>C c.2861A>C (p.His954Pro) c.2351A>C (p.His784Pro) c.2807A>C (n.2807A>C) c.4205A>C (p.His1402Pro) c.4187A>C (p.His1396Pro)
22	g.50722041A>G	CA515264266	SHANK3	c.3809A>G (p.His1270Arg) n.4393A>G c.2861A>G (p.His954Arg) c.2351A>G (p.His784Arg) c.2807A>G (n.2807A>G) c.4205A>G (p.His1402Arg) c.4187A>G (p.His1396Arg)
22	g.50722041A>T	CA515264267	SHANK3	c.3809A>T (p.His1270Leu) n.4393A>T c.2861A>T (p.His954Leu) c.2351A>T (p.His784Leu) c.2807A>T (n.2807A>T) c.4205A>T (p.His1402Leu) c.4187A>T (p.His1396Leu)
22	g.50722042C>A	CA515264269	SHANK3	c.3810C>A (p.His1270Gln) n.4394C>A c.2862C>A (p.His954Gln) c.2352C>A (p.His784Gln) c.2808C>A (n.2808C>A) c.4206C>A (p.His1402Gln) c.4188C>A (p.His1396Gln)	dbSNP gnomAD v2 gnomAD v4
22	g.50722042C=	CA2411008591	SHANK3	c.3810C= (p.His1270=) n.4394C= c.2862C= (p.His954=) c.2352C= (p.His784=) c.2808C= (n.2808C=) c.4206C= (p.His1402=) c.4188C= (p.His1396=)
22	g.50722042C>G	CA515264268	SHANK3	c.3810C>G (p.His1270Gln) n.4394C>G c.2862C>G (p.His954Gln) c.2352C>G (p.His784Gln) c.2808C>G (n.2808C>G) c.4206C>G (p.His1402Gln) c.4188C>G (p.His1396Gln)
22	g.50722042C>T	CA10326223	SHANK3	c.3810C>T (p.His1270=) n.4394C>T c.2862C>T (p.His954=) c.2352C>T (p.His784=) c.2808C>T (n.2808C>T) c.4206C>T (p.His1402=) c.4188C>T (p.His1396=)	dbSNP ExAC gnomAD v2
22	g.50722043A=	CA2411008592	SHANK3	c.3811A= (p.Thr1271=) n.4395A= c.2863A= (p.Thr955=) c.2353A= (p.Thr785=) c.2809A= (n.2809A=) c.4207A= (p.Thr1403=) c.4189A= (p.Thr1397=)
22	g.50722043A>C	CA515264270	SHANK3	c.3811A>C (p.Thr1271Pro) n.4395A>C c.2863A>C (p.Thr955Pro) c.2353A>C (p.Thr785Pro) c.2809A>C (n.2809A>C) c.4207A>C (p.Thr1403Pro) c.4189A>C (p.Thr1397Pro)
22	g.50722043A>G	CA10326224	SHANK3	c.3811A>G (p.Thr1271Ala) n.4395A>G c.2863A>G (p.Thr955Ala) c.2353A>G (p.Thr785Ala) c.2809A>G (n.2809A>G) c.4207A>G (p.Thr1403Ala) c.4189A>G (p.Thr1397Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722043A>T	CA515264271	SHANK3	c.3811A>T (p.Thr1271Ser) n.4395A>T c.2863A>T (p.Thr955Ser) c.2353A>T (p.Thr785Ser) c.2809A>T (n.2809A>T) c.4207A>T (p.Thr1403Ser) c.4189A>T (p.Thr1397Ser)
22	g.50722044C>A	CA515264272	SHANK3	c.3812C>A (p.Thr1271Asn) n.4396C>A c.2864C>A (p.Thr955Asn) c.2354C>A (p.Thr785Asn) c.2810C>A (n.2810C>A) c.4208C>A (p.Thr1403Asn) c.4190C>A (p.Thr1397Asn)
22	g.50722044C=	CA2411008593	SHANK3	c.3812C= (p.Thr1271=) n.4396C= c.2864C= (p.Thr955=) c.2354C= (p.Thr785=) c.2810C= (n.2810C=) c.4208C= (p.Thr1403=) c.4190C= (p.Thr1397=)
22	g.50722044C>G	CA515264273	SHANK3	c.3812C>G (p.Thr1271Ser) n.4396C>G c.2864C>G (p.Thr955Ser) c.2354C>G (p.Thr785Ser) c.2810C>G (n.2810C>G) c.4208C>G (p.Thr1403Ser) c.4190C>G (p.Thr1397Ser)
22	g.50722044C>T	CA10326225	SHANK3	c.3812C>T (p.Thr1271Ile) n.4396C>T c.2864C>T (p.Thr955Ile) c.2354C>T (p.Thr785Ile) c.2810C>T (n.2810C>T) c.4208C>T (p.Thr1403Ile) c.4190C>T (p.Thr1397Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722045T>A	CA515264274	SHANK3	c.3813T>A (p.Thr1271=) n.4397T>A c.2865T>A (p.Thr955=) c.2355T>A (p.Thr785=) c.2811T>A (n.2811T>A) c.4209T>A (p.Thr1403=) c.4191T>A (p.Thr1397=)
22	g.50722045T>C	CA515264275	SHANK3	c.3813T>C (p.Thr1271=) n.4397T>C c.2865T>C (p.Thr955=) c.2355T>C (p.Thr785=) c.2811T>C (n.2811T>C) c.4209T>C (p.Thr1403=) c.4191T>C (p.Thr1397=)
22	g.50722045T>G	CA515264276	SHANK3	c.3813T>G (p.Thr1271=) n.4397T>G c.2865T>G (p.Thr955=) c.2355T>G (p.Thr785=) c.2811T>G (n.2811T>G) c.4209T>G (p.Thr1403=) c.4191T>G (p.Thr1397=)
22	g.50722046T>A	CA515264277	SHANK3	c.3814T>A (p.Phe1272Ile) n.4398T>A c.2866T>A (p.Phe956Ile) c.2356T>A (p.Phe786Ile) c.2812T>A (n.2812T>A) c.4210T>A (p.Phe1404Ile) c.4192T>A (p.Phe1398Ile)
22	g.50722046T>C	CA515264278	SHANK3	c.3814T>C (p.Phe1272Leu) n.4398T>C c.2866T>C (p.Phe956Leu) c.2356T>C (p.Phe786Leu) c.2812T>C (n.2812T>C) c.4210T>C (p.Phe1404Leu) c.4192T>C (p.Phe1398Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50722046T>G	CA515264279	SHANK3	c.3814T>G (p.Phe1272Val) n.4398T>G c.2866T>G (p.Phe956Val) c.2356T>G (p.Phe786Val) c.2812T>G (n.2812T>G) c.4210T>G (p.Phe1404Val) c.4192T>G (p.Phe1398Val)
22	g.50722046T=	CA2411008594	SHANK3	c.3814T= (p.Phe1272=) n.4398T= c.2866T= (p.Phe956=) c.2356T= (p.Phe786=) c.2812T= (n.2812T=) c.4210T= (p.Phe1404=) c.4192T= (p.Phe1398=)
22	g.50722047T>A	CA515264282	SHANK3	c.3815T>A (p.Phe1272Tyr) n.4399T>A c.2867T>A (p.Phe956Tyr) c.2357T>A (p.Phe786Tyr) c.2813T>A (n.2813T>A) c.4211T>A (p.Phe1404Tyr) c.4193T>A (p.Phe1398Tyr)
22	g.50722047T>C	CA515264281	SHANK3	c.3815T>C (p.Phe1272Ser) n.4399T>C c.2867T>C (p.Phe956Ser) c.2357T>C (p.Phe786Ser) c.2813T>C (n.2813T>C) c.4211T>C (p.Phe1404Ser) c.4193T>C (p.Phe1398Ser)	gnomAD v4
22	g.50722047T>G	CA515264280	SHANK3	c.3815T>G (p.Phe1272Cys) n.4399T>G c.2867T>G (p.Phe956Cys) c.2357T>G (p.Phe786Cys) c.2813T>G (n.2813T>G) c.4211T>G (p.Phe1404Cys) c.4193T>G (p.Phe1398Cys)
22	g.50722048T>A	CA515264283	SHANK3	c.3816T>A (p.Phe1272Leu) n.4400T>A c.2868T>A (p.Phe956Leu) c.2358T>A (p.Phe786Leu) c.2814T>A (n.2814T>A) c.4212T>A (p.Phe1404Leu) c.4194T>A (p.Phe1398Leu)
22	g.50722048T>C	CA515264284	SHANK3	c.3816T>C (p.Phe1272=) n.4400T>C c.2868T>C (p.Phe956=) c.2358T>C (p.Phe786=) c.2814T>C (n.2814T>C) c.4212T>C (p.Phe1404=) c.4194T>C (p.Phe1398=)	dbSNP gnomAD v4
22	g.50722048T>G	CA515264285	SHANK3	c.3816T>G (p.Phe1272Leu) n.4400T>G c.2868T>G (p.Phe956Leu) c.2358T>G (p.Phe786Leu) c.2814T>G (n.2814T>G) c.4212T>G (p.Phe1404Leu) c.4194T>G (p.Phe1398Leu)
22	g.50722048T=	CA2411008595	SHANK3	c.3816T= (p.Phe1272=) n.4400T= c.2868T= (p.Phe956=) c.2358T= (p.Phe786=) c.2814T= (n.2814T=) c.4212T= (p.Phe1404=) c.4194T= (p.Phe1398=)
22	g.50722049C>A	CA515264286	SHANK3	c.3817C>A (p.Leu1273Ile) n.4401C>A c.2869C>A (p.Leu957Ile) c.2359C>A (p.Leu787Ile) c.2815C>A (n.2815C>A) c.4213C>A (p.Leu1405Ile) c.4195C>A (p.Leu1399Ile)
22	g.50722049C=	CA2411008596	SHANK3	c.3817C= (p.Leu1273=) n.4401C= c.2869C= (p.Leu957=) c.2359C= (p.Leu787=) c.2815C= (n.2815C=) c.4213C= (p.Leu1405=) c.4195C= (p.Leu1399=)
22	g.50722049C>G	CA10326226	SHANK3	c.3817C>G (p.Leu1273Val) n.4401C>G c.2869C>G (p.Leu957Val) c.2359C>G (p.Leu787Val) c.2815C>G (n.2815C>G) c.4213C>G (p.Leu1405Val) c.4195C>G (p.Leu1399Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722049C>T	CA515264287	SHANK3	c.3817C>T (p.Leu1273=) n.4401C>T c.2869C>T (p.Leu957=) c.2359C>T (p.Leu787=) c.2815C>T (n.2815C>T) c.4213C>T (p.Leu1405=) c.4195C>T (p.Leu1399=)
22	g.50722050T>A	CA515264289	SHANK3	c.3818T>A (p.Leu1273Gln) n.4402T>A c.2870T>A (p.Leu957Gln) c.2360T>A (p.Leu787Gln) c.2816T>A (n.2816T>A) c.4214T>A (p.Leu1405Gln) c.4196T>A (p.Leu1399Gln)
22	g.50722050T>C	CA10326227	SHANK3	c.3818T>C (p.Leu1273Pro) n.4402T>C c.2870T>C (p.Leu957Pro) c.2360T>C (p.Leu787Pro) c.2816T>C (n.2816T>C) c.4214T>C (p.Leu1405Pro) c.4196T>C (p.Leu1399Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722050T>G	CA515264288	SHANK3	c.3818T>G (p.Leu1273Arg) n.4402T>G c.2870T>G (p.Leu957Arg) c.2360T>G (p.Leu787Arg) c.2816T>G (n.2816T>G) c.4214T>G (p.Leu1405Arg) c.4196T>G (p.Leu1399Arg)
22	g.50722050T=	CA2411008597	SHANK3	c.3818T= (p.Leu1273=) n.4402T= c.2870T= (p.Leu957=) c.2360T= (p.Leu787=) c.2816T= (n.2816T=) c.4214T= (p.Leu1405=) c.4196T= (p.Leu1399=)
22	g.50722051A>C	CA515264290	SHANK3	c.3819A>C (p.Leu1273=) n.4403A>C c.2871A>C (p.Leu957=) c.2361A>C (p.Leu787=) c.2817A>C (n.2817A>C) c.4215A>C (p.Leu1405=) c.4197A>C (p.Leu1399=)
22	g.50722051A>G	CA515264291	SHANK3	c.3819A>G (p.Leu1273=) n.4403A>G c.2871A>G (p.Leu957=) c.2361A>G (p.Leu787=) c.2817A>G (n.2817A>G) c.4215A>G (p.Leu1405=) c.4197A>G (p.Leu1399=)
22	g.50722051A>T	CA515264292	SHANK3	c.3819A>T (p.Leu1273=) n.4403A>T c.2871A>T (p.Leu957=) c.2361A>T (p.Leu787=) c.2817A>T (n.2817A>T) c.4215A>T (p.Leu1405=) c.4197A>T (p.Leu1399=)
22	g.50722052C>A	CA515264293	SHANK3	c.3820C>A (p.Leu1274Ile) n.4404C>A c.2872C>A (p.Leu958Ile) c.2362C>A (p.Leu788Ile) c.2818C>A (n.2818C>A) c.4216C>A (p.Leu1406Ile) c.4198C>A (p.Leu1400Ile)
22	g.50722052C=	CA2411008598	SHANK3	c.3820C= (p.Leu1274=) n.4404C= c.2872C= (p.Leu958=) c.2362C= (p.Leu788=) c.2818C= (n.2818C=) c.4216C= (p.Leu1406=) c.4198C= (p.Leu1400=)
22	g.50722052C>G	CA515264294	SHANK3	c.3820C>G (p.Leu1274Val) n.4404C>G c.2872C>G (p.Leu958Val) c.2362C>G (p.Leu788Val) c.2818C>G (n.2818C>G) c.4216C>G (p.Leu1406Val) c.4198C>G (p.Leu1400Val)
22	g.50722052C>T	CA515264295	SHANK3	c.3820C>T (p.Leu1274Phe) n.4404C>T c.2872C>T (p.Leu958Phe) c.2362C>T (p.Leu788Phe) c.2818C>T (n.2818C>T) c.4216C>T (p.Leu1406Phe) c.4198C>T (p.Leu1400Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722053T>A	CA515264296	SHANK3	c.3821T>A (p.Leu1274His) n.4405T>A c.2873T>A (p.Leu958His) c.2363T>A (p.Leu788His) c.2819T>A (n.2819T>A) c.4217T>A (p.Leu1406His) c.4199T>A (p.Leu1400His)
22	g.50722053T>C	CA515264298	SHANK3	c.3821T>C (p.Leu1274Pro) n.4405T>C c.2873T>C (p.Leu958Pro) c.2363T>C (p.Leu788Pro) c.2819T>C (n.2819T>C) c.4217T>C (p.Leu1406Pro) c.4199T>C (p.Leu1400Pro)
22	g.50722053T>G	CA515264297	SHANK3	c.3821T>G (p.Leu1274Arg) n.4405T>G c.2873T>G (p.Leu958Arg) c.2363T>G (p.Leu788Arg) c.2819T>G (n.2819T>G) c.4217T>G (p.Leu1406Arg) c.4199T>G (p.Leu1400Arg)
22	g.50722054C>A	CA515264299	SHANK3	c.3822C>A (p.Leu1274=) n.4406C>A c.2874C>A (p.Leu958=) c.2364C>A (p.Leu788=) c.2820C>A (n.2820C>A) c.4218C>A (p.Leu1406=) c.4200C>A (p.Leu1400=)
22	g.50722054C=	CA2411008599	SHANK3	c.3822C= (p.Leu1274=) n.4406C= c.2874C= (p.Leu958=) c.2364C= (p.Leu788=) c.2820C= (n.2820C=) c.4218C= (p.Leu1406=) c.4200C= (p.Leu1400=)
22	g.50722054C>G	CA10326229	SHANK3	c.3822C>G (p.Leu1274=) n.4406C>G c.2874C>G (p.Leu958=) c.2364C>G (p.Leu788=) c.2820C>G (n.2820C>G) c.4218C>G (p.Leu1406=) c.4200C>G (p.Leu1400=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722054C>T	CA10326228	SHANK3	c.3822C>T (p.Leu1274=) n.4406C>T c.2874C>T (p.Leu958=) c.2364C>T (p.Leu788=) c.2820C>T (n.2820C>T) c.4218C>T (p.Leu1406=) c.4200C>T (p.Leu1400=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722055G>A	CA515264300	SHANK3	c.3823G>A (p.Glu1275Lys) n.4407G>A c.2875G>A (p.Glu959Lys) c.2365G>A (p.Glu789Lys) c.2821G>A (n.2821G>A) c.4219G>A (p.Glu1407Lys) c.4201G>A (p.Glu1401Lys)	dbSNP gnomAD v2 gnomAD v4
22	g.50722055G>C	CA515264301	SHANK3	c.3823G>C (p.Glu1275Gln) n.4407G>C c.2875G>C (p.Glu959Gln) c.2365G>C (p.Glu789Gln) c.2821G>C (n.2821G>C) c.4219G>C (p.Glu1407Gln) c.4201G>C (p.Glu1401Gln)
22	g.50722055G=	CA2411008600	SHANK3	c.3823G= (p.Glu1275=) n.4407G= c.2875G= (p.Glu959=) c.2365G= (p.Glu789=) c.2821G= (n.2821G=) c.4219G= (p.Glu1407=) c.4201G= (p.Glu1401=)
22	g.50722055G>T	CA515264302	SHANK3	c.3823G>T (p.Glu1275Ter) n.4407G>T c.2875G>T (p.Glu959Ter) c.2365G>T (p.Glu789Ter) c.2821G>T (n.2821G>T) c.4219G>T (p.Glu1407Ter) c.4201G>T (p.Glu1401Ter)
22	g.50722056A>C	CA515264303	SHANK3	c.3824A>C (p.Glu1275Ala) n.4408A>C c.2876A>C (p.Glu959Ala) c.2366A>C (p.Glu789Ala) c.2822A>C (n.2822A>C) c.4220A>C (p.Glu1407Ala) c.4202A>C (p.Glu1401Ala)
22	g.50722056A>G	CA515264304	SHANK3	c.3824A>G (p.Glu1275Gly) n.4408A>G c.2876A>G (p.Glu959Gly) c.2366A>G (p.Glu789Gly) c.2822A>G (n.2822A>G) c.4220A>G (p.Glu1407Gly) c.4202A>G (p.Glu1401Gly)
22	g.50722056A>T	CA515264305	SHANK3	c.3824A>T (p.Glu1275Val) n.4408A>T c.2876A>T (p.Glu959Val) c.2366A>T (p.Glu789Val) c.2822A>T (n.2822A>T) c.4220A>T (p.Glu1407Val) c.4202A>T (p.Glu1401Val)
22	g.50722057G>A	CA515264306	SHANK3	c.3825G>A (p.Glu1275=) n.4409G>A c.2877G>A (p.Glu959=) c.2367G>A (p.Glu789=) c.2823G>A (n.2823G>A) c.4221G>A (p.Glu1407=) c.4203G>A (p.Glu1401=)	gnomAD v4
22	g.50722057G>C	CA515264307	SHANK3	c.3825G>C (p.Glu1275Asp) n.4409G>C c.2877G>C (p.Glu959Asp) c.2367G>C (p.Glu789Asp) c.2823G>C (n.2823G>C) c.4221G>C (p.Glu1407Asp) c.4203G>C (p.Glu1401Asp)
22	g.50722057G>T	CA515264308	SHANK3	c.3825G>T (p.Glu1275Asp) n.4409G>T c.2877G>T (p.Glu959Asp) c.2367G>T (p.Glu789Asp) c.2823G>T (n.2823G>T) c.4221G>T (p.Glu1407Asp) c.4203G>T (p.Glu1401Asp)
22	g.50722058A>C	CA515264309	SHANK3	c.3826A>C (p.Lys1276Gln) n.4410A>C c.2878A>C (p.Lys960Gln) c.2368A>C (p.Lys790Gln) c.2824A>C (n.2824A>C) c.4222A>C (p.Lys1408Gln) c.4204A>C (p.Lys1402Gln)
22	g.50722058A>G	CA515264311	SHANK3	c.3826A>G (p.Lys1276Glu) n.4410A>G c.2878A>G (p.Lys960Glu) c.2368A>G (p.Lys790Glu) c.2824A>G (n.2824A>G) c.4222A>G (p.Lys1408Glu) c.4204A>G (p.Lys1402Glu)
22	g.50722058A>T	CA515264310	SHANK3	c.3826A>T (p.Lys1276Ter) n.4410A>T c.2878A>T (p.Lys960Ter) c.2368A>T (p.Lys790Ter) c.2824A>T (n.2824A>T) c.4222A>T (p.Lys1408Ter) c.4204A>T (p.Lys1402Ter)
22	g.50722059A>C	CA515264312	SHANK3	c.3827A>C (p.Lys1276Thr) n.4411A>C c.2879A>C (p.Lys960Thr) c.2369A>C (p.Lys790Thr) c.2825A>C (n.2825A>C) c.4223A>C (p.Lys1408Thr) c.4205A>C (p.Lys1402Thr)
22	g.50722059A>G	CA515264313	SHANK3	c.3827A>G (p.Lys1276Arg) n.4411A>G c.2879A>G (p.Lys960Arg) c.2369A>G (p.Lys790Arg) c.2825A>G (n.2825A>G) c.4223A>G (p.Lys1408Arg) c.4205A>G (p.Lys1402Arg)
22	g.50722059A>T	CA515264314	SHANK3	c.3827A>T (p.Lys1276Met) n.4411A>T c.2879A>T (p.Lys960Met) c.2369A>T (p.Lys790Met) c.2825A>T (n.2825A>T) c.4223A>T (p.Lys1408Met) c.4205A>T (p.Lys1402Met)
22	g.50722060G>A	CA515264315	SHANK3	c.3828G>A (p.Lys1276=) n.4412G>A c.2880G>A (p.Lys960=) c.2370G>A (p.Lys790=) c.2826G>A (n.2826G>A) c.4224G>A (p.Lys1408=) c.4206G>A (p.Lys1402=)
22	g.50722060G>C	CA515264316	SHANK3	c.3828G>C (p.Lys1276Asn) n.4412G>C c.2880G>C (p.Lys960Asn) c.2370G>C (p.Lys790Asn) c.2826G>C (n.2826G>C) c.4224G>C (p.Lys1408Asn) c.4206G>C (p.Lys1402Asn)
22	g.50722060G>T	CA515264317	SHANK3	c.3828G>T (p.Lys1276Asn) n.4412G>T c.2880G>T (p.Lys960Asn) c.2370G>T (p.Lys790Asn) c.2826G>T (n.2826G>T) c.4224G>T (p.Lys1408Asn) c.4206G>T (p.Lys1402Asn)
22	g.50722060_50722061delinsGC	CA2411008601	SHANK3	c.3828_3829delinsGC (p.Lys1276=) n.4412_4413delinsGC c.2880_2881delinsGC (p.Lys960=) c.2370_2371delinsGC (p.Lys790=) c.2826_2827delinsGC (n.2826_2827delinsGC) c.4224_4225delinsGC (p.Lys1408=) c.4206_4207delinsGC (p.Lys1402=)
22	g.50722061C>A	CA515264318	SHANK3	c.3829C>A (p.Pro1277Thr) n.4413C>A c.2881C>A (p.Pro961Thr) c.2371C>A (p.Pro791Thr) c.2827C>A (n.2827C>A) c.4225C>A (p.Pro1409Thr) c.4207C>A (p.Pro1403Thr)
22	g.50722061C>G	CA515264319	SHANK3	c.3829C>G (p.Pro1277Ala) n.4413C>G c.2881C>G (p.Pro961Ala) c.2371C>G (p.Pro791Ala) c.2827C>G (n.2827C>G) c.4225C>G (p.Pro1409Ala) c.4207C>G (p.Pro1403Ala)
22	g.50722061C>T	CA515264320	SHANK3	c.3829C>T (p.Pro1277Ser) n.4413C>T c.2881C>T (p.Pro961Ser) c.2371C>T (p.Pro791Ser) c.2827C>T (n.2827C>T) c.4225C>T (p.Pro1409Ser) c.4207C>T (p.Pro1403Ser)
22	g.50722062del	CA645369800	SHANK3	c.3830del (p.Pro1277HisfsTer18) n.4414del c.2882del (p.Pro961HisfsTer18) c.2372del (p.Pro791HisfsTer18) c.2828del (n.2828del) c.4226del (p.Pro1409HisfsTer18) c.4208del (p.Pro1403HisfsTer18)	ClinVar dbSNP
22	g.50722062C>A	CA515264321	SHANK3	c.3830C>A (p.Pro1277Gln) n.4414C>A c.2882C>A (p.Pro961Gln) c.2372C>A (p.Pro791Gln) c.2828C>A (n.2828C>A) c.4226C>A (p.Pro1409Gln) c.4208C>A (p.Pro1403Gln)
22	g.50722062C>G	CA515264322	SHANK3	c.3830C>G (p.Pro1277Arg) n.4414C>G c.2882C>G (p.Pro961Arg) c.2372C>G (p.Pro791Arg) c.2828C>G (n.2828C>G) c.4226C>G (p.Pro1409Arg) c.4208C>G (p.Pro1403Arg)
22	g.50722062C>T	CA515264323	SHANK3	c.3830C>T (p.Pro1277Leu) n.4414C>T c.2882C>T (p.Pro961Leu) c.2372C>T (p.Pro791Leu) c.2828C>T (n.2828C>T) c.4226C>T (p.Pro1409Leu) c.4208C>T (p.Pro1403Leu)
22	g.50722063A>C	CA515264326	SHANK3	c.3831A>C (p.Pro1277=) n.4415A>C c.2883A>C (p.Pro961=) c.2373A>C (p.Pro791=) c.2829A>C (n.2829A>C) c.4227A>C (p.Pro1409=) c.4209A>C (p.Pro1403=)
22	g.50722063A>G	CA515264325	SHANK3	c.3831A>G (p.Pro1277=) n.4415A>G c.2883A>G (p.Pro961=) c.2373A>G (p.Pro791=) c.2829A>G (n.2829A>G) c.4227A>G (p.Pro1409=) c.4209A>G (p.Pro1403=)
22	g.50722063A>T	CA515264324	SHANK3	c.3831A>T (p.Pro1277=) n.4415A>T c.2883A>T (p.Pro961=) c.2373A>T (p.Pro791=) c.2829A>T (n.2829A>T) c.4227A>T (p.Pro1409=) c.4209A>T (p.Pro1403=)
22	g.50722064C>A	CA515264327	SHANK3	c.3832C>A (p.Pro1278Thr) n.4416C>A c.2884C>A (p.Pro962Thr) c.2374C>A (p.Pro792Thr) c.2830C>A (n.2830C>A) c.4228C>A (p.Pro1410Thr) c.4210C>A (p.Pro1404Thr)
22	g.50722064C>G	CA515264328	SHANK3	c.3832C>G (p.Pro1278Ala) n.4416C>G c.2884C>G (p.Pro962Ala) c.2374C>G (p.Pro792Ala) c.2830C>G (n.2830C>G) c.4228C>G (p.Pro1410Ala) c.4210C>G (p.Pro1404Ala)
22	g.50722064C>T	CA515264329	SHANK3	c.3832C>T (p.Pro1278Ser) n.4416C>T c.2884C>T (p.Pro962Ser) c.2374C>T (p.Pro792Ser) c.2830C>T (n.2830C>T) c.4228C>T (p.Pro1410Ser) c.4210C>T (p.Pro1404Ser)
22	g.50722065C>A	CA515264330	SHANK3	c.3833C>A (p.Pro1278Gln) n.4417C>A c.2885C>A (p.Pro962Gln) c.2375C>A (p.Pro792Gln) c.2831C>A (n.2831C>A) c.4229C>A (p.Pro1410Gln) c.4211C>A (p.Pro1404Gln)
22	g.50722065C=	CA2411008602	SHANK3	c.3833C= (p.Pro1278=) n.4417C= c.2885C= (p.Pro962=) c.2375C= (p.Pro792=) c.2831C= (n.2831C=) c.4229C= (p.Pro1410=) c.4211C= (p.Pro1404=)
22	g.50722065C>G	CA515264331	SHANK3	c.3833C>G (p.Pro1278Arg) n.4417C>G c.2885C>G (p.Pro962Arg) c.2375C>G (p.Pro792Arg) c.2831C>G (n.2831C>G) c.4229C>G (p.Pro1410Arg) c.4211C>G (p.Pro1404Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722065C>T	CA515264332	SHANK3	c.3833C>T (p.Pro1278Leu) n.4417C>T c.2885C>T (p.Pro962Leu) c.2375C>T (p.Pro792Leu) c.2831C>T (n.2831C>T) c.4229C>T (p.Pro1410Leu) c.4211C>T (p.Pro1404Leu)
22	g.50722066A>C	CA515264333	SHANK3	c.3834A>C (p.Pro1278=) n.4418A>C c.2886A>C (p.Pro962=) c.2376A>C (p.Pro792=) c.2832A>C (n.2832A>C) c.4230A>C (p.Pro1410=) c.4212A>C (p.Pro1404=)
22	g.50722066A>G	CA515264334	SHANK3	c.3834A>G (p.Pro1278=) n.4418A>G c.2886A>G (p.Pro962=) c.2376A>G (p.Pro792=) c.2832A>G (n.2832A>G) c.4230A>G (p.Pro1410=) c.4212A>G (p.Pro1404=)
22	g.50722066A>T	CA515264335	SHANK3	c.3834A>T (p.Pro1278=) n.4418A>T c.2886A>T (p.Pro962=) c.2376A>T (p.Pro792=) c.2832A>T (n.2832A>T) c.4230A>T (p.Pro1410=) c.4212A>T (p.Pro1404=)
22	g.50722067G>A	CA10326230	SHANK3	c.3835G>A (p.Val1279Met) n.4419G>A c.2887G>A (p.Val963Met) c.2377G>A (p.Val793Met) c.2833G>A (n.2833G>A) c.4231G>A (p.Val1411Met) c.4213G>A (p.Val1405Met)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722067G>C	CA515264336	SHANK3	c.3835G>C (p.Val1279Leu) n.4419G>C c.2887G>C (p.Val963Leu) c.2377G>C (p.Val793Leu) c.2833G>C (n.2833G>C) c.4231G>C (p.Val1411Leu) c.4213G>C (p.Val1405Leu)
22	g.50722067G=	CA2411008603	SHANK3	c.3835G= (p.Val1279=) n.4419G= c.2887G= (p.Val963=) c.2377G= (p.Val793=) c.2833G= (n.2833G=) c.4231G= (p.Val1411=) c.4213G= (p.Val1405=)
22	g.50722067G>T	CA515264337	SHANK3	c.3835G>T (p.Val1279Leu) n.4419G>T c.2887G>T (p.Val963Leu) c.2377G>T (p.Val793Leu) c.2833G>T (n.2833G>T) c.4231G>T (p.Val1411Leu) c.4213G>T (p.Val1405Leu)
22	g.50722068T>A	CA515264340	SHANK3	c.3836T>A (p.Val1279Glu) n.4420T>A c.2888T>A (p.Val963Glu) c.2378T>A (p.Val793Glu) c.2834T>A (n.2834T>A) c.4232T>A (p.Val1411Glu) c.4214T>A (p.Val1405Glu)
22	g.50722068T>C	CA515264339	SHANK3	c.3836T>C (p.Val1279Ala) n.4420T>C c.2888T>C (p.Val963Ala) c.2378T>C (p.Val793Ala) c.2834T>C (n.2834T>C) c.4232T>C (p.Val1411Ala) c.4214T>C (p.Val1405Ala)
22	g.50722068T>G	CA515264338	SHANK3	c.3836T>G (p.Val1279Gly) n.4420T>G c.2888T>G (p.Val963Gly) c.2378T>G (p.Val793Gly) c.2834T>G (n.2834T>G) c.4232T>G (p.Val1411Gly) c.4214T>G (p.Val1405Gly)
22	g.50722069G>A	CA515264341	SHANK3	c.3837G>A (p.Val1279=) n.4421G>A c.2889G>A (p.Val963=) c.2379G>A (p.Val793=) c.2835G>A (n.2835G>A) c.4233G>A (p.Val1411=) c.4215G>A (p.Val1405=)
22	g.50722069G>C	CA515264343	SHANK3	c.3837G>C (p.Val1279=) n.4421G>C c.2889G>C (p.Val963=) c.2379G>C (p.Val793=) c.2835G>C (n.2835G>C) c.4233G>C (p.Val1411=) c.4215G>C (p.Val1405=)
22	g.50722069G>T	CA515264342	SHANK3	c.3837G>T (p.Val1279=) n.4421G>T c.2889G>T (p.Val963=) c.2379G>T (p.Val793=) c.2835G>T (n.2835G>T) c.4233G>T (p.Val1411=) c.4215G>T (p.Val1405=)
22	g.50722070C>A	CA515264344	SHANK3	c.3838C>A (p.Pro1280Thr) n.4422C>A c.2890C>A (p.Pro964Thr) c.2380C>A (p.Pro794Thr) c.2836C>A (n.2836C>A) c.4234C>A (p.Pro1412Thr) c.4216C>A (p.Pro1406Thr)
22	g.50722070C>G	CA515264345	SHANK3	c.3838C>G (p.Pro1280Ala) n.4422C>G c.2890C>G (p.Pro964Ala) c.2380C>G (p.Pro794Ala) c.2836C>G (n.2836C>G) c.4234C>G (p.Pro1412Ala) c.4216C>G (p.Pro1406Ala)
22	g.50722070C>T	CA515264346	SHANK3	c.3838C>T (p.Pro1280Ser) n.4422C>T c.2890C>T (p.Pro964Ser) c.2380C>T (p.Pro794Ser) c.2836C>T (n.2836C>T) c.4234C>T (p.Pro1412Ser) c.4216C>T (p.Pro1406Ser)
22	g.50722071C>A	CA515264347	SHANK3	c.3839C>A (p.Pro1280His) n.4423C>A c.2891C>A (p.Pro964His) c.2381C>A (p.Pro794His) c.2837C>A (n.2837C>A) c.4235C>A (p.Pro1412His) c.4217C>A (p.Pro1406His)
22	g.50722071C>G	CA515264348	SHANK3	c.3839C>G (p.Pro1280Arg) n.4423C>G c.2891C>G (p.Pro964Arg) c.2381C>G (p.Pro794Arg) c.2837C>G (n.2837C>G) c.4235C>G (p.Pro1412Arg) c.4217C>G (p.Pro1406Arg)
22	g.50722071C>T	CA515264349	SHANK3	c.3839C>T (p.Pro1280Leu) n.4423C>T c.2891C>T (p.Pro964Leu) c.2381C>T (p.Pro794Leu) c.2837C>T (n.2837C>T) c.4235C>T (p.Pro1412Leu) c.4217C>T (p.Pro1406Leu)
22	g.50722072T>A	CA515264350	SHANK3	c.3840T>A (p.Pro1280=) n.4424T>A c.2892T>A (p.Pro964=) c.2382T>A (p.Pro794=) c.2838T>A (n.2838T>A) c.4236T>A (p.Pro1412=) c.4218T>A (p.Pro1406=)
22	g.50722072T>C	CA515264351	SHANK3	c.3840T>C (p.Pro1280=) n.4424T>C c.2892T>C (p.Pro964=) c.2382T>C (p.Pro794=) c.2838T>C (n.2838T>C) c.4236T>C (p.Pro1412=) c.4218T>C (p.Pro1406=)
22	g.50722072T>G	CA515264352	SHANK3	c.3840T>G (p.Pro1280=) n.4424T>G c.2892T>G (p.Pro964=) c.2382T>G (p.Pro794=) c.2838T>G (n.2838T>G) c.4236T>G (p.Pro1412=) c.4218T>G (p.Pro1406=)
22	g.50722072_50722078delinsTCCCAAG	CA2411008604	SHANK3	c.3840_3846delinsTCCCAAG (p.Pro1280=) n.4424_4430delinsTCCCAAG c.2892_2898delinsTCCCAAG (p.Pro964=) c.2382_2388delinsTCCCAAG (p.Pro794=) c.2838_2844delinsTCCCAAG (n.2838_2844delinsTCCCAAG) c.4236_4242delinsTCCCAAG (p.Pro1412=) c.4218_4224delinsTCCCAAG (p.Pro1406=)
22	g.50722073C>A	CA515264353	SHANK3	c.3841C>A (p.Pro1281Thr) n.4425C>A c.2893C>A (p.Pro965Thr) c.2383C>A (p.Pro795Thr) c.2839C>A (n.2839C>A) c.4237C>A (p.Pro1413Thr) c.4219C>A (p.Pro1407Thr)
22	g.50722073C>G	CA515264354	SHANK3	c.3841C>G (p.Pro1281Ala) n.4425C>G c.2893C>G (p.Pro965Ala) c.2383C>G (p.Pro795Ala) c.2839C>G (n.2839C>G) c.4237C>G (p.Pro1413Ala) c.4219C>G (p.Pro1407Ala)
22	g.50722073C>T	CA515264355	SHANK3	c.3841C>T (p.Pro1281Ser) n.4425C>T c.2893C>T (p.Pro965Ser) c.2383C>T (p.Pro795Ser) c.2839C>T (n.2839C>T) c.4237C>T (p.Pro1413Ser) c.4219C>T (p.Pro1407Ser)
22	g.50722080_50722085del	CA754094829	SHANK3	c.3848_3853del (p.Pro1283_Lys1284del) n.4432_4437del c.2900_2905del (p.Pro967_Lys968del) c.2390_2395del (p.Pro797_Lys798del) c.2846_2851del (n.2846_2851del) c.4244_4249del (p.Pro1415_Lys1416del) c.4226_4231del (p.Pro1409_Lys1410del)	dbSNP
22	g.50722074C>A	CA515264358	SHANK3	c.3842C>A (p.Pro1281His) n.4426C>A c.2894C>A (p.Pro965His) c.2384C>A (p.Pro795His) c.2840C>A (n.2840C>A) c.4238C>A (p.Pro1413His) c.4220C>A (p.Pro1407His)
22	g.50722074C=	CA2411008605	SHANK3	c.3842C= (p.Pro1281=) n.4426C= c.2894C= (p.Pro965=) c.2384C= (p.Pro795=) c.2840C= (n.2840C=) c.4238C= (p.Pro1413=) c.4220C= (p.Pro1407=)
22	g.50722074C>G	CA515264356	SHANK3	c.3842C>G (p.Pro1281Arg) n.4426C>G c.2894C>G (p.Pro965Arg) c.2384C>G (p.Pro795Arg) c.2840C>G (n.2840C>G) c.4238C>G (p.Pro1413Arg) c.4220C>G (p.Pro1407Arg)
22	g.50722074C>T	CA515264357	SHANK3	c.3842C>T (p.Pro1281Leu) n.4426C>T c.2894C>T (p.Pro965Leu) c.2384C>T (p.Pro795Leu) c.2840C>T (n.2840C>T) c.4238C>T (p.Pro1413Leu) c.4220C>T (p.Pro1407Leu)	dbSNP gnomAD v2
22	g.50722075C>A	CA515264359	SHANK3	c.3843C>A (p.Pro1281=) n.4427C>A c.2895C>A (p.Pro965=) c.2385C>A (p.Pro795=) c.2841C>A (n.2841C>A) c.4239C>A (p.Pro1413=) c.4221C>A (p.Pro1407=)
22	g.50722075C>G	CA515264360	SHANK3	c.3843C>G (p.Pro1281=) n.4427C>G c.2895C>G (p.Pro965=) c.2385C>G (p.Pro795=) c.2841C>G (n.2841C>G) c.4239C>G (p.Pro1413=) c.4221C>G (p.Pro1407=)
22	g.50722075C>T	CA515264361	SHANK3	c.3843C>T (p.Pro1281=) n.4427C>T c.2895C>T (p.Pro965=) c.2385C>T (p.Pro795=) c.2841C>T (n.2841C>T) c.4239C>T (p.Pro1413=) c.4221C>T (p.Pro1407=)
22	g.50722076A>C	CA515264362	SHANK3	c.3844A>C (p.Lys1282Gln) n.4428A>C c.2896A>C (p.Lys966Gln) c.2386A>C (p.Lys796Gln) c.2842A>C (n.2842A>C) c.4240A>C (p.Lys1414Gln) c.4222A>C (p.Lys1408Gln)
22	g.50722076A>G	CA515264363	SHANK3	c.3844A>G (p.Lys1282Glu) n.4428A>G c.2896A>G (p.Lys966Glu) c.2386A>G (p.Lys796Glu) c.2842A>G (n.2842A>G) c.4240A>G (p.Lys1414Glu) c.4222A>G (p.Lys1408Glu)
22	g.50722076A>T	CA515264364	SHANK3	c.3844A>T (p.Lys1282Ter) n.4428A>T c.2896A>T (p.Lys966Ter) c.2386A>T (p.Lys796Ter) c.2842A>T (n.2842A>T) c.4240A>T (p.Lys1414Ter) c.4222A>T (p.Lys1408Ter)
22	g.50722077A>C	CA515264365	SHANK3	c.3845A>C (p.Lys1282Thr) n.4429A>C c.2897A>C (p.Lys966Thr) c.2387A>C (p.Lys796Thr) c.2843A>C (n.2843A>C) c.4241A>C (p.Lys1414Thr) c.4223A>C (p.Lys1408Thr)
22	g.50722077A>G	CA515264366	SHANK3	c.3845A>G (p.Lys1282Arg) n.4429A>G c.2897A>G (p.Lys966Arg) c.2387A>G (p.Lys796Arg) c.2843A>G (n.2843A>G) c.4241A>G (p.Lys1414Arg) c.4223A>G (p.Lys1408Arg)
22	g.50722077A>T	CA515264367	SHANK3	c.3845A>T (p.Lys1282Met) n.4429A>T c.2897A>T (p.Lys966Met) c.2387A>T (p.Lys796Met) c.2843A>T (n.2843A>T) c.4241A>T (p.Lys1414Met) c.4223A>T (p.Lys1408Met)
22	g.50722078G>A	CA325579993	SHANK3	c.3846G>A (p.Lys1282=) n.4430G>A c.2898G>A (p.Lys966=) c.2388G>A (p.Lys796=) c.2844G>A (n.2844G>A) c.4242G>A (p.Lys1414=) c.4224G>A (p.Lys1408=)	dbSNP
22	g.50722078G>C	CA515264368	SHANK3	c.3846G>C (p.Lys1282Asn) n.4430G>C c.2898G>C (p.Lys966Asn) c.2388G>C (p.Lys796Asn) c.2844G>C (n.2844G>C) c.4242G>C (p.Lys1414Asn) c.4224G>C (p.Lys1408Asn)
22	g.50722078G=	CA2411008606	SHANK3	c.3846G= (p.Lys1282=) n.4430G= c.2898G= (p.Lys966=) c.2388G= (p.Lys796=) c.2844G= (n.2844G=) c.4242G= (p.Lys1414=) c.4224G= (p.Lys1408=)
22	g.50722078G>T	CA515264369	SHANK3	c.3846G>T (p.Lys1282Asn) n.4430G>T c.2898G>T (p.Lys966Asn) c.2388G>T (p.Lys796Asn) c.2844G>T (n.2844G>T) c.4242G>T (p.Lys1414Asn) c.4224G>T (p.Lys1408Asn)
22	g.50722079C>A	CA515264372	SHANK3	c.3847C>A (p.Pro1283Thr) n.4431C>A c.2899C>A (p.Pro967Thr) c.2389C>A (p.Pro797Thr) c.2845C>A (n.2845C>A) c.4243C>A (p.Pro1415Thr) c.4225C>A (p.Pro1409Thr)
22	g.50722079C>G	CA515264371	SHANK3	c.3847C>G (p.Pro1283Ala) n.4431C>G c.2899C>G (p.Pro967Ala) c.2389C>G (p.Pro797Ala) c.2845C>G (n.2845C>G) c.4243C>G (p.Pro1415Ala) c.4225C>G (p.Pro1409Ala)
22	g.50722079C>T	CA515264370	SHANK3	c.3847C>T (p.Pro1283Ser) n.4431C>T c.2899C>T (p.Pro967Ser) c.2389C>T (p.Pro797Ser) c.2845C>T (n.2845C>T) c.4243C>T (p.Pro1415Ser) c.4225C>T (p.Pro1409Ser)
22	g.50722080C>A	CA515264375	SHANK3	c.3848C>A (p.Pro1283His) n.4432C>A c.2900C>A (p.Pro967His) c.2390C>A (p.Pro797His) c.2846C>A (n.2846C>A) c.4244C>A (p.Pro1415His) c.4226C>A (p.Pro1409His)
22	g.50722080C>G	CA515264373	SHANK3	c.3848C>G (p.Pro1283Arg) n.4432C>G c.2900C>G (p.Pro967Arg) c.2390C>G (p.Pro797Arg) c.2846C>G (n.2846C>G) c.4244C>G (p.Pro1415Arg) c.4226C>G (p.Pro1409Arg)
22	g.50722080C>T	CA515264374	SHANK3	c.3848C>T (p.Pro1283Leu) n.4432C>T c.2900C>T (p.Pro967Leu) c.2390C>T (p.Pro797Leu) c.2846C>T (n.2846C>T) c.4244C>T (p.Pro1415Leu) c.4226C>T (p.Pro1409Leu)	gnomAD v4
22	g.50722081C>A	CA10326231	SHANK3	c.3849C>A (p.Pro1283=) n.4433C>A c.2901C>A (p.Pro967=) c.2391C>A (p.Pro797=) c.2847C>A (n.2847C>A) c.4245C>A (p.Pro1415=) c.4227C>A (p.Pro1409=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722081C=	CA2411008607	SHANK3	c.3849C= (p.Pro1283=) n.4433C= c.2901C= (p.Pro967=) c.2391C= (p.Pro797=) c.2847C= (n.2847C=) c.4245C= (p.Pro1415=) c.4227C= (p.Pro1409=)
22	g.50722081C>G	CA515264376	SHANK3	c.3849C>G (p.Pro1283=) n.4433C>G c.2901C>G (p.Pro967=) c.2391C>G (p.Pro797=) c.2847C>G (n.2847C>G) c.4245C>G (p.Pro1415=) c.4227C>G (p.Pro1409=)
22	g.50722081C>T	CA515264377	SHANK3	c.3849C>T (p.Pro1283=) n.4433C>T c.2901C>T (p.Pro967=) c.2391C>T (p.Pro797=) c.2847C>T (n.2847C>T) c.4245C>T (p.Pro1415=) c.4227C>T (p.Pro1409=)
22	g.50722082A=	CA2411008608	SHANK3	c.3850A= (p.Lys1284=) n.4434A= c.2902A= (p.Lys968=) c.2392A= (p.Lys798=) c.2848A= (n.2848A=) c.4246A= (p.Lys1416=) c.4228A= (p.Lys1410=)
22	g.50722082A>C	CA515264380	SHANK3	c.3850A>C (p.Lys1284Gln) n.4434A>C c.2902A>C (p.Lys968Gln) c.2392A>C (p.Lys798Gln) c.2848A>C (n.2848A>C) c.4246A>C (p.Lys1416Gln) c.4228A>C (p.Lys1410Gln)
22	g.50722082A>G	CA515264379	SHANK3	c.3850A>G (p.Lys1284Glu) n.4434A>G c.2902A>G (p.Lys968Glu) c.2392A>G (p.Lys798Glu) c.2848A>G (n.2848A>G) c.4246A>G (p.Lys1416Glu) c.4228A>G (p.Lys1410Glu)	dbSNP
22	g.50722082A>T	CA515264378	SHANK3	c.3850A>T (p.Lys1284Ter) n.4434A>T c.2902A>T (p.Lys968Ter) c.2392A>T (p.Lys798Ter) c.2848A>T (n.2848A>T) c.4246A>T (p.Lys1416Ter) c.4228A>T (p.Lys1410Ter)
22	g.50722083A>C	CA515264381	SHANK3	c.3851A>C (p.Lys1284Thr) n.4435A>C c.2903A>C (p.Lys968Thr) c.2393A>C (p.Lys798Thr) c.2849A>C (n.2849A>C) c.4247A>C (p.Lys1416Thr) c.4229A>C (p.Lys1410Thr)
22	g.50722083A>G	CA515264382	SHANK3	c.3851A>G (p.Lys1284Arg) n.4435A>G c.2903A>G (p.Lys968Arg) c.2393A>G (p.Lys798Arg) c.2849A>G (n.2849A>G) c.4247A>G (p.Lys1416Arg) c.4229A>G (p.Lys1410Arg)
22	g.50722083A>T	CA515264383	SHANK3	c.3851A>T (p.Lys1284Met) n.4435A>T c.2903A>T (p.Lys968Met) c.2393A>T (p.Lys798Met) c.2849A>T (n.2849A>T) c.4247A>T (p.Lys1416Met) c.4229A>T (p.Lys1410Met)
22	g.50722084G>A	CA515264384	SHANK3	c.3852G>A (p.Lys1284=) n.4436G>A c.2904G>A (p.Lys968=) c.2394G>A (p.Lys798=) c.2850G>A (n.2850G>A) c.4248G>A (p.Lys1416=) c.4230G>A (p.Lys1410=)
22	g.50722084G>C	CA515264385	SHANK3	c.3852G>C (p.Lys1284Asn) n.4436G>C c.2904G>C (p.Lys968Asn) c.2394G>C (p.Lys798Asn) c.2850G>C (n.2850G>C) c.4248G>C (p.Lys1416Asn) c.4230G>C (p.Lys1410Asn)
22	g.50722084G>T	CA515264386	SHANK3	c.3852G>T (p.Lys1284Asn) n.4436G>T c.2904G>T (p.Lys968Asn) c.2394G>T (p.Lys798Asn) c.2850G>T (n.2850G>T) c.4248G>T (p.Lys1416Asn) c.4230G>T (p.Lys1410Asn)
22	g.50722085C>A	CA515264387	SHANK3	c.3853C>A (p.Leu1285Ile) n.4437C>A c.2905C>A (p.Leu969Ile) c.2395C>A (p.Leu799Ile) c.2851C>A (n.2851C>A) c.4249C>A (p.Leu1417Ile) c.4231C>A (p.Leu1411Ile)
22	g.50722085C=	CA2411008609	SHANK3	c.3853C= (p.Leu1285=) n.4437C= c.2905C= (p.Leu969=) c.2395C= (p.Leu799=) c.2851C= (n.2851C=) c.4249C= (p.Leu1417=) c.4231C= (p.Leu1411=)
22	g.50722085C>G	CA515264389	SHANK3	c.3853C>G (p.Leu1285Val) n.4437C>G c.2905C>G (p.Leu969Val) c.2395C>G (p.Leu799Val) c.2851C>G (n.2851C>G) c.4249C>G (p.Leu1417Val) c.4231C>G (p.Leu1411Val)	gnomAD v4
22	g.50722085C>T	CA515264388	SHANK3	c.3853C>T (p.Leu1285Phe) n.4437C>T c.2905C>T (p.Leu969Phe) c.2395C>T (p.Leu799Phe) c.2851C>T (n.2851C>T) c.4249C>T (p.Leu1417Phe) c.4231C>T (p.Leu1411Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50722086T>A	CA515264390	SHANK3	c.3854T>A (p.Leu1285His) n.4438T>A c.2906T>A (p.Leu969His) c.2396T>A (p.Leu799His) c.2852T>A (n.2852T>A) c.4250T>A (p.Leu1417His) c.4232T>A (p.Leu1411His)
22	g.50722086T>C	CA515264391	SHANK3	c.3854T>C (p.Leu1285Pro) n.4438T>C c.2906T>C (p.Leu969Pro) c.2396T>C (p.Leu799Pro) c.2852T>C (n.2852T>C) c.4250T>C (p.Leu1417Pro) c.4232T>C (p.Leu1411Pro)
22	g.50722086T>G	CA515264392	SHANK3	c.3854T>G (p.Leu1285Arg) n.4438T>G c.2906T>G (p.Leu969Arg) c.2396T>G (p.Leu799Arg) c.2852T>G (n.2852T>G) c.4250T>G (p.Leu1417Arg) c.4232T>G (p.Leu1411Arg)
22	g.50722087C>A	CA515264393	SHANK3	c.3855C>A (p.Leu1285=) n.4439C>A c.2907C>A (p.Leu969=) c.2397C>A (p.Leu799=) c.2853C>A (n.2853C>A) c.4251C>A (p.Leu1417=) c.4233C>A (p.Leu1411=)
22	g.50722087C=	CA2411008610	SHANK3	c.3855C= (p.Leu1285=) n.4439C= c.2907C= (p.Leu969=) c.2397C= (p.Leu799=) c.2853C= (n.2853C=) c.4251C= (p.Leu1417=) c.4233C= (p.Leu1411=)
22	g.50722087C>G	CA515264394	SHANK3	c.3855C>G (p.Leu1285=) n.4439C>G c.2907C>G (p.Leu969=) c.2397C>G (p.Leu799=) c.2853C>G (n.2853C>G) c.4251C>G (p.Leu1417=) c.4233C>G (p.Leu1411=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722087C>T	CA515264395	SHANK3	c.3855C>T (p.Leu1285=) n.4439C>T c.2907C>T (p.Leu969=) c.2397C>T (p.Leu799=) c.2853C>T (n.2853C>T) c.4251C>T (p.Leu1417=) c.4233C>T (p.Leu1411=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722088A>C	CA515264396	SHANK3	c.3856A>C (p.Lys1286Gln) n.4440A>C c.2908A>C (p.Lys970Gln) c.2398A>C (p.Lys800Gln) c.2854A>C (n.2854A>C) c.4252A>C (p.Lys1418Gln) c.4234A>C (p.Lys1412Gln)	gnomAD v4
22	g.50722088A>G	CA515264397	SHANK3	c.3856A>G (p.Lys1286Glu) n.4440A>G c.2908A>G (p.Lys970Glu) c.2398A>G (p.Lys800Glu) c.2854A>G (n.2854A>G) c.4252A>G (p.Lys1418Glu) c.4234A>G (p.Lys1412Glu)
22	g.50722088A>T	CA515264398	SHANK3	c.3856A>T (p.Lys1286Ter) n.4440A>T c.2908A>T (p.Lys970Ter) c.2398A>T (p.Lys800Ter) c.2854A>T (n.2854A>T) c.4252A>T (p.Lys1418Ter) c.4234A>T (p.Lys1412Ter)
22	g.50722089A=	CA2411008611	SHANK3	c.3857A= (p.Lys1286=) n.4441A= c.2909A= (p.Lys970=) c.2399A= (p.Lys800=) c.2855A= (n.2855A=) c.4253A= (p.Lys1418=) c.4235A= (p.Lys1412=)
22	g.50722089A>C	CA515264399	SHANK3	c.3857A>C (p.Lys1286Thr) n.4441A>C c.2909A>C (p.Lys970Thr) c.2399A>C (p.Lys800Thr) c.2855A>C (n.2855A>C) c.4253A>C (p.Lys1418Thr) c.4235A>C (p.Lys1412Thr)
22	g.50722089A>G	CA10326232	SHANK3	c.3857A>G (p.Lys1286Arg) n.4441A>G c.2909A>G (p.Lys970Arg) c.2399A>G (p.Lys800Arg) c.2855A>G (n.2855A>G) c.4253A>G (p.Lys1418Arg) c.4235A>G (p.Lys1412Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722089A>T	CA515264400	SHANK3	c.3857A>T (p.Lys1286Met) n.4441A>T c.2909A>T (p.Lys970Met) c.2399A>T (p.Lys800Met) c.2855A>T (n.2855A>T) c.4253A>T (p.Lys1418Met) c.4235A>T (p.Lys1412Met)
22	g.50722090G>A	CA325580000	SHANK3	c.3858G>A (p.Lys1286=) n.4442G>A c.2910G>A (p.Lys970=) c.2400G>A (p.Lys800=) c.2856G>A (n.2856G>A) c.4254G>A (p.Lys1418=) c.4236G>A (p.Lys1412=)	dbSNP
22	g.50722090G>C	CA515264402	SHANK3	c.3858G>C (p.Lys1286Asn) n.4442G>C c.2910G>C (p.Lys970Asn) c.2400G>C (p.Lys800Asn) c.2856G>C (n.2856G>C) c.4254G>C (p.Lys1418Asn) c.4236G>C (p.Lys1412Asn)
22	g.50722090G=	CA2411008612	SHANK3	c.3858G= (p.Lys1286=) n.4442G= c.2910G= (p.Lys970=) c.2400G= (p.Lys800=) c.2856G= (n.2856G=) c.4254G= (p.Lys1418=) c.4236G= (p.Lys1412=)
22	g.50722090G>T	CA515264401	SHANK3	c.3858G>T (p.Lys1286Asn) n.4442G>T c.2910G>T (p.Lys970Asn) c.2400G>T (p.Lys800Asn) c.2856G>T (n.2856G>T) c.4254G>T (p.Lys1418Asn) c.4236G>T (p.Lys1412Asn)
22	g.50722091T>A	CA515264403	SHANK3	c.3859T>A (p.Ser1287Thr) n.4443T>A c.2911T>A (p.Ser971Thr) c.2401T>A (p.Ser801Thr) c.2857T>A (n.2857T>A) c.4255T>A (p.Ser1419Thr) c.4237T>A (p.Ser1413Thr)
22	g.50722091T>C	CA515264404	SHANK3	c.3859T>C (p.Ser1287Pro) n.4443T>C c.2911T>C (p.Ser971Pro) c.2401T>C (p.Ser801Pro) c.2857T>C (n.2857T>C) c.4255T>C (p.Ser1419Pro) c.4237T>C (p.Ser1413Pro)
22	g.50722091T>G	CA515264405	SHANK3	c.3859T>G (p.Ser1287Ala) n.4443T>G c.2911T>G (p.Ser971Ala) c.2401T>G (p.Ser801Ala) c.2857T>G (n.2857T>G) c.4255T>G (p.Ser1419Ala) c.4237T>G (p.Ser1413Ala)
22	g.50722092C>A	CA515264407	SHANK3	c.3860C>A (p.Ser1287Tyr) n.4444C>A c.2912C>A (p.Ser971Tyr) c.2402C>A (p.Ser801Tyr) c.2858C>A (n.2858C>A) c.4256C>A (p.Ser1419Tyr) c.4238C>A (p.Ser1413Tyr)
22	g.50722092C=	CA2411008613	SHANK3	c.3860C= (p.Ser1287=) n.4444C= c.2912C= (p.Ser971=) c.2402C= (p.Ser801=) c.2858C= (n.2858C=) c.4256C= (p.Ser1419=) c.4238C= (p.Ser1413=)
22	g.50722092C>G	CA515264408	SHANK3	c.3860C>G (p.Ser1287Cys) n.4444C>G c.2912C>G (p.Ser971Cys) c.2402C>G (p.Ser801Cys) c.2858C>G (n.2858C>G) c.4256C>G (p.Ser1419Cys) c.4238C>G (p.Ser1413Cys)
22	g.50722092C>T	CA515264409	SHANK3	c.3860C>T (p.Ser1287Phe) n.4444C>T c.2912C>T (p.Ser971Phe) c.2402C>T (p.Ser801Phe) c.2858C>T (n.2858C>T) c.4256C>T (p.Ser1419Phe) c.4238C>T (p.Ser1413Phe)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched