Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721619_50721636del	CA2657581054	SHANK3	c.3387_3404del (p.Pro1130_Pro1135del) n.3971_3988del c.2439_2456del (p.Pro814_Pro819del) c.1929_1946del (p.Pro644_Pro649del) c.2385_2402del (n.2385_2402del) c.3783_3800del (p.Pro1262_Pro1267del) c.3765_3782del (p.Pro1256_Pro1261del)	gnomAD v4
22	g.50721636C>A	CA515263062	SHANK3	c.3404C>A (p.Pro1135Gln) n.3988C>A c.2456C>A (p.Pro819Gln) c.1946C>A (p.Pro649Gln) c.2402C>A (n.2402C>A) c.3800C>A (p.Pro1267Gln) c.3782C>A (p.Pro1261Gln)
22	g.50721636C=	CA2411008374	SHANK3	c.3404C= (p.Pro1135=) n.3988C= c.2456C= (p.Pro819=) c.1946C= (p.Pro649=) c.2402C= (n.2402C=) c.3800C= (p.Pro1267=) c.3782C= (p.Pro1261=)
22	g.50721636C>G	CA515263063	SHANK3	c.3404C>G (p.Pro1135Arg) n.3988C>G c.2456C>G (p.Pro819Arg) c.1946C>G (p.Pro649Arg) c.2402C>G (n.2402C>G) c.3800C>G (p.Pro1267Arg) c.3782C>G (p.Pro1261Arg)	gnomAD v4
22	g.50721636C>T	CA10326147	SHANK3	c.3404C>T (p.Pro1135Leu) n.3988C>T c.2456C>T (p.Pro819Leu) c.1946C>T (p.Pro649Leu) c.2402C>T (n.2402C>T) c.3800C>T (p.Pro1267Leu) c.3782C>T (p.Pro1261Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721637A>C	CA515263064	SHANK3	c.3405A>C (p.Pro1135=) n.3989A>C c.2457A>C (p.Pro819=) c.1947A>C (p.Pro649=) c.2403A>C (n.2403A>C) c.3801A>C (p.Pro1267=) c.3783A>C (p.Pro1261=)
22	g.50721637A>G	CA515263065	SHANK3	c.3405A>G (p.Pro1135=) n.3989A>G c.2457A>G (p.Pro819=) c.1947A>G (p.Pro649=) c.2403A>G (n.2403A>G) c.3801A>G (p.Pro1267=) c.3783A>G (p.Pro1261=)
22	g.50721637A>T	CA515263066	SHANK3	c.3405A>T (p.Pro1135=) n.3989A>T c.2457A>T (p.Pro819=) c.1947A>T (p.Pro649=) c.2403A>T (n.2403A>T) c.3801A>T (p.Pro1267=) c.3783A>T (p.Pro1261=)
22	g.50721638G>A	CA515263067	SHANK3	c.3406G>A (p.Gly1136Ser) n.3990G>A c.2458G>A (p.Gly820Ser) c.1948G>A (p.Gly650Ser) c.2404G>A (n.2404G>A) c.3802G>A (p.Gly1268Ser) c.3784G>A (p.Gly1262Ser)
22	g.50721638G>C	CA10326149	SHANK3	c.3406G>C (p.Gly1136Arg) n.3990G>C c.2458G>C (p.Gly820Arg) c.1948G>C (p.Gly650Arg) c.2404G>C (n.2404G>C) c.3802G>C (p.Gly1268Arg) c.3784G>C (p.Gly1262Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721638G=	CA2411008375	SHANK3	c.3406G= (p.Gly1136=) n.3990G= c.2458G= (p.Gly820=) c.1948G= (p.Gly650=) c.2404G= (n.2404G=) c.3802G= (p.Gly1268=) c.3784G= (p.Gly1262=)
22	g.50721638G>T	CA10326148	SHANK3	c.3406G>T (p.Gly1136Cys) n.3990G>T c.2458G>T (p.Gly820Cys) c.1948G>T (p.Gly650Cys) c.2404G>T (n.2404G>T) c.3802G>T (p.Gly1268Cys) c.3784G>T (p.Gly1262Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721639G>A	CA515263070	SHANK3	c.3407G>A (p.Gly1136Asp) n.3991G>A c.2459G>A (p.Gly820Asp) c.1949G>A (p.Gly650Asp) c.2405G>A (n.2405G>A) c.3803G>A (p.Gly1268Asp) c.3785G>A (p.Gly1262Asp)	dbSNP gnomAD v2 gnomAD v4
22	g.50721639G>C	CA515263069	SHANK3	c.3407G>C (p.Gly1136Ala) n.3991G>C c.2459G>C (p.Gly820Ala) c.1949G>C (p.Gly650Ala) c.2405G>C (n.2405G>C) c.3803G>C (p.Gly1268Ala) c.3785G>C (p.Gly1262Ala)
22	g.50721639G=	CA2411008376	SHANK3	c.3407G= (p.Gly1136=) n.3991G= c.2459G= (p.Gly820=) c.1949G= (p.Gly650=) c.2405G= (n.2405G=) c.3803G= (p.Gly1268=) c.3785G= (p.Gly1262=)
22	g.50721639G>T	CA515263068	SHANK3	c.3407G>T (p.Gly1136Val) n.3991G>T c.2459G>T (p.Gly820Val) c.1949G>T (p.Gly650Val) c.2405G>T (n.2405G>T) c.3803G>T (p.Gly1268Val) c.3785G>T (p.Gly1262Val)
22	g.50721640C>A	CA515263071	SHANK3	c.3408C>A (p.Gly1136=) n.3992C>A c.2460C>A (p.Gly820=) c.1950C>A (p.Gly650=) c.2406C>A (n.2406C>A) c.3804C>A (p.Gly1268=) c.3786C>A (p.Gly1262=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721640C=	CA2411008377	SHANK3	c.3408C= (p.Gly1136=) n.3992C= c.2460C= (p.Gly820=) c.1950C= (p.Gly650=) c.2406C= (n.2406C=) c.3804C= (p.Gly1268=) c.3786C= (p.Gly1262=)
22	g.50721640C>G	CA515263072	SHANK3	c.3408C>G (p.Gly1136=) n.3992C>G c.2460C>G (p.Gly820=) c.1950C>G (p.Gly650=) c.2406C>G (n.2406C>G) c.3804C>G (p.Gly1268=) c.3786C>G (p.Gly1262=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721640C>T	CA515263073	SHANK3	c.3408C>T (p.Gly1136=) n.3992C>T c.2460C>T (p.Gly820=) c.1950C>T (p.Gly650=) c.2406C>T (n.2406C>T) c.3804C>T (p.Gly1268=) c.3786C>T (p.Gly1262=)	gnomAD v4
22	g.50721641C>A	CA515263074	SHANK3	c.3409C>A (p.Gln1137Lys) n.3993C>A c.2461C>A (p.Gln821Lys) c.1951C>A (p.Gln651Lys) c.2407C>A (n.2407C>A) c.3805C>A (p.Gln1269Lys) c.3787C>A (p.Gln1263Lys)
22	g.50721641C>G	CA515263075	SHANK3	c.3409C>G (p.Gln1137Glu) n.3993C>G c.2461C>G (p.Gln821Glu) c.1951C>G (p.Gln651Glu) c.2407C>G (n.2407C>G) c.3805C>G (p.Gln1269Glu) c.3787C>G (p.Gln1263Glu)
22	g.50721641C>T	CA515263076	SHANK3	c.3409C>T (p.Gln1137Ter) n.3993C>T c.2461C>T (p.Gln821Ter) c.1951C>T (p.Gln651Ter) c.2407C>T (n.2407C>T) c.3805C>T (p.Gln1269Ter) c.3787C>T (p.Gln1263Ter)
22	g.50721642A>C	CA515263077	SHANK3	c.3410A>C (p.Gln1137Pro) n.3994A>C c.2462A>C (p.Gln821Pro) c.1952A>C (p.Gln651Pro) c.2408A>C (n.2408A>C) c.3806A>C (p.Gln1269Pro) c.3788A>C (p.Gln1263Pro)
22	g.50721642A>G	CA515263078	SHANK3	c.3410A>G (p.Gln1137Arg) n.3994A>G c.2462A>G (p.Gln821Arg) c.1952A>G (p.Gln651Arg) c.2408A>G (n.2408A>G) c.3806A>G (p.Gln1269Arg) c.3788A>G (p.Gln1263Arg)	gnomAD v4
22	g.50721642A>T	CA515263079	SHANK3	c.3410A>T (p.Gln1137Leu) n.3994A>T c.2462A>T (p.Gln821Leu) c.1952A>T (p.Gln651Leu) c.2408A>T (n.2408A>T) c.3806A>T (p.Gln1269Leu) c.3788A>T (p.Gln1263Leu)
22	g.50721643G>A	CA10326150	SHANK3	c.3411G>A (p.Gln1137=) n.3995G>A c.2463G>A (p.Gln821=) c.1953G>A (p.Gln651=) c.2409G>A (n.2409G>A) c.3807G>A (p.Gln1269=) c.3789G>A (p.Gln1263=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721643G>C	CA515263080	SHANK3	c.3411G>C (p.Gln1137His) n.3995G>C c.2463G>C (p.Gln821His) c.1953G>C (p.Gln651His) c.2409G>C (n.2409G>C) c.3807G>C (p.Gln1269His) c.3789G>C (p.Gln1263His)	dbSNP
22	g.50721643G=	CA2411008378	SHANK3	c.3411G= (p.Gln1137=) n.3995G= c.2463G= (p.Gln821=) c.1953G= (p.Gln651=) c.2409G= (n.2409G=) c.3807G= (p.Gln1269=) c.3789G= (p.Gln1263=)
22	g.50721643G>T	CA515263081	SHANK3	c.3411G>T (p.Gln1137His) n.3995G>T c.2463G>T (p.Gln821His) c.1953G>T (p.Gln651His) c.2409G>T (n.2409G>T) c.3807G>T (p.Gln1269His) c.3789G>T (p.Gln1263His)
22	g.50721644G>A	CA515263084	SHANK3	c.3412G>A (p.Gly1138Ser) n.3996G>A c.2464G>A (p.Gly822Ser) c.1954G>A (p.Gly652Ser) c.2410G>A (n.2410G>A) c.3808G>A (p.Gly1270Ser) c.3790G>A (p.Gly1264Ser)
22	g.50721644G>C	CA515263083	SHANK3	c.3412G>C (p.Gly1138Arg) n.3996G>C c.2464G>C (p.Gly822Arg) c.1954G>C (p.Gly652Arg) c.2410G>C (n.2410G>C) c.3808G>C (p.Gly1270Arg) c.3790G>C (p.Gly1264Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50721644G=	CA2411008379	SHANK3	c.3412G= (p.Gly1138=) n.3996G= c.2464G= (p.Gly822=) c.1954G= (p.Gly652=) c.2410G= (n.2410G=) c.3808G= (p.Gly1270=) c.3790G= (p.Gly1264=)
22	g.50721644G>T	CA515263082	SHANK3	c.3412G>T (p.Gly1138Cys) n.3996G>T c.2464G>T (p.Gly822Cys) c.1954G>T (p.Gly652Cys) c.2410G>T (n.2410G>T) c.3808G>T (p.Gly1270Cys) c.3790G>T (p.Gly1264Cys)	COSMIC COSMIC
22	g.50721645G>A	CA515263085	SHANK3	c.3413G>A (p.Gly1138Asp) n.3997G>A c.2465G>A (p.Gly822Asp) c.1955G>A (p.Gly652Asp) c.2411G>A (n.2411G>A) c.3809G>A (p.Gly1270Asp) c.3791G>A (p.Gly1264Asp)	gnomAD v4
22	g.50721645G>C	CA515263087	SHANK3	c.3413G>C (p.Gly1138Ala) n.3997G>C c.2465G>C (p.Gly822Ala) c.1955G>C (p.Gly652Ala) c.2411G>C (n.2411G>C) c.3809G>C (p.Gly1270Ala) c.3791G>C (p.Gly1264Ala)
22	g.50721645G>T	CA515263086	SHANK3	c.3413G>T (p.Gly1138Val) n.3997G>T c.2465G>T (p.Gly822Val) c.1955G>T (p.Gly652Val) c.2411G>T (n.2411G>T) c.3809G>T (p.Gly1270Val) c.3791G>T (p.Gly1264Val)
22	g.50721646C>A	CA515263088	SHANK3	c.3414C>A (p.Gly1138=) n.3998C>A c.2466C>A (p.Gly822=) c.1956C>A (p.Gly652=) c.2412C>A (n.2412C>A) c.3810C>A (p.Gly1270=) c.3792C>A (p.Gly1264=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721646C=	CA2411008380	SHANK3	c.3414C= (p.Gly1138=) n.3998C= c.2466C= (p.Gly822=) c.1956C= (p.Gly652=) c.2412C= (n.2412C=) c.3810C= (p.Gly1270=) c.3792C= (p.Gly1264=)
22	g.50721646C>G	CA515263089	SHANK3	c.3414C>G (p.Gly1138=) n.3998C>G c.2466C>G (p.Gly822=) c.1956C>G (p.Gly652=) c.2412C>G (n.2412C>G) c.3810C>G (p.Gly1270=) c.3792C>G (p.Gly1264=)	gnomAD v4
22	g.50721646C>T	CA10326151	SHANK3	c.3414C>T (p.Gly1138=) n.3998C>T c.2466C>T (p.Gly822=) c.1956C>T (p.Gly652=) c.2412C>T (n.2412C>T) c.3810C>T (p.Gly1270=) c.3792C>T (p.Gly1264=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721647A>C	CA515263090	SHANK3	c.3415A>C (p.Ser1139Arg) n.3999A>C c.2467A>C (p.Ser823Arg) c.1957A>C (p.Ser653Arg) c.2413A>C (n.2413A>C) c.3811A>C (p.Ser1271Arg) c.3793A>C (p.Ser1265Arg)
22	g.50721647A>G	CA515263091	SHANK3	c.3415A>G (p.Ser1139Gly) n.3999A>G c.2467A>G (p.Ser823Gly) c.1957A>G (p.Ser653Gly) c.2413A>G (n.2413A>G) c.3811A>G (p.Ser1271Gly) c.3793A>G (p.Ser1265Gly)
22	g.50721647A>T	CA515263092	SHANK3	c.3415A>T (p.Ser1139Cys) n.3999A>T c.2467A>T (p.Ser823Cys) c.1957A>T (p.Ser653Cys) c.2413A>T (n.2413A>T) c.3811A>T (p.Ser1271Cys) c.3793A>T (p.Ser1265Cys)
22	g.50721648G>A	CA515263093	SHANK3	c.3416G>A (p.Ser1139Asn) n.4000G>A c.2468G>A (p.Ser823Asn) c.1958G>A (p.Ser653Asn) c.2414G>A (n.2414G>A) c.3812G>A (p.Ser1271Asn) c.3794G>A (p.Ser1265Asn)	ClinVar dbSNP gnomAD v4
22	g.50721648G>C	CA515263094	SHANK3	c.3416G>C (p.Ser1139Thr) n.4000G>C c.2468G>C (p.Ser823Thr) c.1958G>C (p.Ser653Thr) c.2414G>C (n.2414G>C) c.3812G>C (p.Ser1271Thr) c.3794G>C (p.Ser1265Thr)	gnomAD v4
22	g.50721648G>T	CA515263095	SHANK3	c.3416G>T (p.Ser1139Ile) n.4000G>T c.2468G>T (p.Ser823Ile) c.1958G>T (p.Ser653Ile) c.2414G>T (n.2414G>T) c.3812G>T (p.Ser1271Ile) c.3794G>T (p.Ser1265Ile)
22	g.50721649C>A	CA515263096	SHANK3	c.3417C>A (p.Ser1139Arg) n.4001C>A c.2469C>A (p.Ser823Arg) c.1959C>A (p.Ser653Arg) c.2415C>A (n.2415C>A) c.3813C>A (p.Ser1271Arg) c.3795C>A (p.Ser1265Arg)
22	g.50721649C=	CA2411008381	SHANK3	c.3417C= (p.Ser1139=) n.4001C= c.2469C= (p.Ser823=) c.1959C= (p.Ser653=) c.2415C= (n.2415C=) c.3813C= (p.Ser1271=) c.3795C= (p.Ser1265=)
22	g.50721649C>G	CA515263097	SHANK3	c.3417C>G (p.Ser1139Arg) n.4001C>G c.2469C>G (p.Ser823Arg) c.1959C>G (p.Ser653Arg) c.2415C>G (n.2415C>G) c.3813C>G (p.Ser1271Arg) c.3795C>G (p.Ser1265Arg)	gnomAD v4
22	g.50721649C>T	CA10326152	SHANK3	c.3417C>T (p.Ser1139=) n.4001C>T c.2469C>T (p.Ser823=) c.1959C>T (p.Ser653=) c.2415C>T (n.2415C>T) c.3813C>T (p.Ser1271=) c.3795C>T (p.Ser1265=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721650T>A	CA515263100	SHANK3	c.3418T>A (p.Ser1140Thr) n.4002T>A c.2470T>A (p.Ser824Thr) c.1960T>A (p.Ser654Thr) c.2416T>A (n.2416T>A) c.3814T>A (p.Ser1272Thr) c.3796T>A (p.Ser1266Thr)
22	g.50721650T>C	CA515263098	SHANK3	c.3418T>C (p.Ser1140Pro) n.4002T>C c.2470T>C (p.Ser824Pro) c.1960T>C (p.Ser654Pro) c.2416T>C (n.2416T>C) c.3814T>C (p.Ser1272Pro) c.3796T>C (p.Ser1266Pro)
22	g.50721650T>G	CA515263099	SHANK3	c.3418T>G (p.Ser1140Ala) n.4002T>G c.2470T>G (p.Ser824Ala) c.1960T>G (p.Ser654Ala) c.2416T>G (n.2416T>G) c.3814T>G (p.Ser1272Ala) c.3796T>G (p.Ser1266Ala)	COSMIC COSMIC
22	g.50721651C>A	CA515263101	SHANK3	c.3419C>A (p.Ser1140Ter) n.4003C>A c.2471C>A (p.Ser824Ter) c.1961C>A (p.Ser654Ter) c.2417C>A (n.2417C>A) c.3815C>A (p.Ser1272Ter) c.3797C>A (p.Ser1266Ter)
22	g.50721651C>G	CA515263102	SHANK3	c.3419C>G (p.Ser1140Ter) n.4003C>G c.2471C>G (p.Ser824Ter) c.1961C>G (p.Ser654Ter) c.2417C>G (n.2417C>G) c.3815C>G (p.Ser1272Ter) c.3797C>G (p.Ser1266Ter)
22	g.50721651C>T	CA515263103	SHANK3	c.3419C>T (p.Ser1140Leu) n.4003C>T c.2471C>T (p.Ser824Leu) c.1961C>T (p.Ser654Leu) c.2417C>T (n.2417C>T) c.3815C>T (p.Ser1272Leu) c.3797C>T (p.Ser1266Leu)	gnomAD v4
22	g.50721652A>C	CA515263104	SHANK3	c.3420A>C (p.Ser1140=) n.4004A>C c.2472A>C (p.Ser824=) c.1962A>C (p.Ser654=) c.2418A>C (n.2418A>C) c.3816A>C (p.Ser1272=) c.3798A>C (p.Ser1266=)
22	g.50721652A>G	CA515263105	SHANK3	c.3420A>G (p.Ser1140=) n.4004A>G c.2472A>G (p.Ser824=) c.1962A>G (p.Ser654=) c.2418A>G (n.2418A>G) c.3816A>G (p.Ser1272=) c.3798A>G (p.Ser1266=)
22	g.50721652A>T	CA515263106	SHANK3	c.3420A>T (p.Ser1140=) n.4004A>T c.2472A>T (p.Ser824=) c.1962A>T (p.Ser654=) c.2418A>T (n.2418A>T) c.3816A>T (p.Ser1272=) c.3798A>T (p.Ser1266=)
22	g.50721653G>A	CA515263107	SHANK3	c.3421G>A (p.Glu1141Lys) n.4005G>A c.2473G>A (p.Glu825Lys) c.1963G>A (p.Glu655Lys) c.2419G>A (n.2419G>A) c.3817G>A (p.Glu1273Lys) c.3799G>A (p.Glu1267Lys)	dbSNP gnomAD v2
22	g.50721653G>C	CA515263108	SHANK3	c.3421G>C (p.Glu1141Gln) n.4005G>C c.2473G>C (p.Glu825Gln) c.1963G>C (p.Glu655Gln) c.2419G>C (n.2419G>C) c.3817G>C (p.Glu1273Gln) c.3799G>C (p.Glu1267Gln)
22	g.50721653G=	CA2411008382	SHANK3	c.3421G= (p.Glu1141=) n.4005G= c.2473G= (p.Glu825=) c.1963G= (p.Glu655=) c.2419G= (n.2419G=) c.3817G= (p.Glu1273=) c.3799G= (p.Glu1267=)
22	g.50721653G>T	CA515263109	SHANK3	c.3421G>T (p.Glu1141Ter) n.4005G>T c.2473G>T (p.Glu825Ter) c.1963G>T (p.Glu655Ter) c.2419G>T (n.2419G>T) c.3817G>T (p.Glu1273Ter) c.3799G>T (p.Glu1267Ter)	gnomAD v4 COSMIC COSMIC COSMIC
22	g.50721654del	CA2738229743	SHANK3	c.3422del (p.Glu1141GlyfsTer10) n.4006del c.2474del (p.Glu825GlyfsTer10) c.1964del (p.Glu655GlyfsTer10) c.2420del (n.2420del) c.3818del (p.Glu1273GlyfsTer10) c.3800del (p.Glu1267GlyfsTer10)	dbSNP
22	g.50721654A>C	CA515263110	SHANK3	c.3422A>C (p.Glu1141Ala) n.4006A>C c.2474A>C (p.Glu825Ala) c.1964A>C (p.Glu655Ala) c.2420A>C (n.2420A>C) c.3818A>C (p.Glu1273Ala) c.3800A>C (p.Glu1267Ala)
22	g.50721654A>G	CA515263111	SHANK3	c.3422A>G (p.Glu1141Gly) n.4006A>G c.2474A>G (p.Glu825Gly) c.1964A>G (p.Glu655Gly) c.2420A>G (n.2420A>G) c.3818A>G (p.Glu1273Gly) c.3800A>G (p.Glu1267Gly)
22	g.50721654A>T	CA515263112	SHANK3	c.3422A>T (p.Glu1141Val) n.4006A>T c.2474A>T (p.Glu825Val) c.1964A>T (p.Glu655Val) c.2420A>T (n.2420A>T) c.3818A>T (p.Glu1273Val) c.3800A>T (p.Glu1267Val)
22	g.50721655G>A	CA515263115	SHANK3	c.3423G>A (p.Glu1141=) n.4007G>A c.2475G>A (p.Glu825=) c.1965G>A (p.Glu655=) c.2421G>A (n.2421G>A) c.3819G>A (p.Glu1273=) c.3801G>A (p.Glu1267=)
22	g.50721655G>C	CA515263114	SHANK3	c.3423G>C (p.Glu1141Asp) n.4007G>C c.2475G>C (p.Glu825Asp) c.1965G>C (p.Glu655Asp) c.2421G>C (n.2421G>C) c.3819G>C (p.Glu1273Asp) c.3801G>C (p.Glu1267Asp)
22	g.50721655G>T	CA515263113	SHANK3	c.3423G>T (p.Glu1141Asp) n.4007G>T c.2475G>T (p.Glu825Asp) c.1965G>T (p.Glu655Asp) c.2421G>T (n.2421G>T) c.3819G>T (p.Glu1273Asp) c.3801G>T (p.Glu1267Asp)	gnomAD v4
22	g.50721656G>A	CA515263118	SHANK3	c.3424G>A (p.Glu1142Lys) n.4008G>A c.2476G>A (p.Glu826Lys) c.1966G>A (p.Glu656Lys) c.2422G>A (n.2422G>A) c.3820G>A (p.Glu1274Lys) c.3802G>A (p.Glu1268Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721656G>C	CA515263116	SHANK3	c.3424G>C (p.Glu1142Gln) n.4008G>C c.2476G>C (p.Glu826Gln) c.1966G>C (p.Glu656Gln) c.2422G>C (n.2422G>C) c.3820G>C (p.Glu1274Gln) c.3802G>C (p.Glu1268Gln)
22	g.50721656G=	CA2411008383	SHANK3	c.3424G= (p.Glu1142=) n.4008G= c.2476G= (p.Glu826=) c.1966G= (p.Glu656=) c.2422G= (n.2422G=) c.3820G= (p.Glu1274=) c.3802G= (p.Glu1268=)
22	g.50721656G>T	CA515263117	SHANK3	c.3424G>T (p.Glu1142Ter) n.4008G>T c.2476G>T (p.Glu826Ter) c.1966G>T (p.Glu656Ter) c.2422G>T (n.2422G>T) c.3820G>T (p.Glu1274Ter) c.3802G>T (p.Glu1268Ter)
22	g.50721657A>C	CA515263119	SHANK3	c.3425A>C (p.Glu1142Ala) n.4009A>C c.2477A>C (p.Glu826Ala) c.1967A>C (p.Glu656Ala) c.2423A>C (n.2423A>C) c.3821A>C (p.Glu1274Ala) c.3803A>C (p.Glu1268Ala)
22	g.50721657A>G	CA515263120	SHANK3	c.3425A>G (p.Glu1142Gly) n.4009A>G c.2477A>G (p.Glu826Gly) c.1967A>G (p.Glu656Gly) c.2423A>G (n.2423A>G) c.3821A>G (p.Glu1274Gly) c.3803A>G (p.Glu1268Gly)
22	g.50721657A>T	CA515263121	SHANK3	c.3425A>T (p.Glu1142Val) n.4009A>T c.2477A>T (p.Glu826Val) c.1967A>T (p.Glu656Val) c.2423A>T (n.2423A>T) c.3821A>T (p.Glu1274Val) c.3803A>T (p.Glu1268Val)
22	g.50721658A>C	CA515263124	SHANK3	c.3426A>C (p.Glu1142Asp) n.4010A>C c.2478A>C (p.Glu826Asp) c.1968A>C (p.Glu656Asp) c.2424A>C (n.2424A>C) c.3822A>C (p.Glu1274Asp) c.3804A>C (p.Glu1268Asp)
22	g.50721658A>G	CA515263123	SHANK3	c.3426A>G (p.Glu1142=) n.4010A>G c.2478A>G (p.Glu826=) c.1968A>G (p.Glu656=) c.2424A>G (n.2424A>G) c.3822A>G (p.Glu1274=) c.3804A>G (p.Glu1268=)	gnomAD v4
22	g.50721658A>T	CA515263122	SHANK3	c.3426A>T (p.Glu1142Asp) n.4010A>T c.2478A>T (p.Glu826Asp) c.1968A>T (p.Glu656Asp) c.2424A>T (n.2424A>T) c.3822A>T (p.Glu1274Asp) c.3804A>T (p.Glu1268Asp)
22	g.50721659G>A	CA515263125	SHANK3	c.3427G>A (p.Glu1143Lys) n.4011G>A c.2479G>A (p.Glu827Lys) c.1969G>A (p.Glu657Lys) c.2425G>A (n.2425G>A) c.3823G>A (p.Glu1275Lys) c.3805G>A (p.Glu1269Lys)	dbSNP gnomAD v2 gnomAD v4
22	g.50721659G>C	CA515263126	SHANK3	c.3427G>C (p.Glu1143Gln) n.4011G>C c.2479G>C (p.Glu827Gln) c.1969G>C (p.Glu657Gln) c.2425G>C (n.2425G>C) c.3823G>C (p.Glu1275Gln) c.3805G>C (p.Glu1269Gln)
22	g.50721659G=	CA2411008384	SHANK3	c.3427G= (p.Glu1143=) n.4011G= c.2479G= (p.Glu827=) c.1969G= (p.Glu657=) c.2425G= (n.2425G=) c.3823G= (p.Glu1275=) c.3805G= (p.Glu1269=)
22	g.50721659G>T	CA515263127	SHANK3	c.3427G>T (p.Glu1143Ter) n.4011G>T c.2479G>T (p.Glu827Ter) c.1969G>T (p.Glu657Ter) c.2425G>T (n.2425G>T) c.3823G>T (p.Glu1275Ter) c.3805G>T (p.Glu1269Ter)
22	g.50721660A>C	CA515263128	SHANK3	c.3428A>C (p.Glu1143Ala) n.4012A>C c.2480A>C (p.Glu827Ala) c.1970A>C (p.Glu657Ala) c.2426A>C (n.2426A>C) c.3824A>C (p.Glu1275Ala) c.3806A>C (p.Glu1269Ala)	ClinVar
22	g.50721660A>G	CA515263129	SHANK3	c.3428A>G (p.Glu1143Gly) n.4012A>G c.2480A>G (p.Glu827Gly) c.1970A>G (p.Glu657Gly) c.2426A>G (n.2426A>G) c.3824A>G (p.Glu1275Gly) c.3806A>G (p.Glu1269Gly)	gnomAD v4
22	g.50721660A>T	CA515263130	SHANK3	c.3428A>T (p.Glu1143Val) n.4012A>T c.2480A>T (p.Glu827Val) c.1970A>T (p.Glu657Val) c.2426A>T (n.2426A>T) c.3824A>T (p.Glu1275Val) c.3806A>T (p.Glu1269Val)
22	g.50721661G>A	CA515263131	SHANK3	c.3429G>A (p.Glu1143=) n.4013G>A c.2481G>A (p.Glu827=) c.1971G>A (p.Glu657=) c.2427G>A (n.2427G>A) c.3825G>A (p.Glu1275=) c.3807G>A (p.Glu1269=)
22	g.50721661G>C	CA515263133	SHANK3	c.3429G>C (p.Glu1143Asp) n.4013G>C c.2481G>C (p.Glu827Asp) c.1971G>C (p.Glu657Asp) c.2427G>C (n.2427G>C) c.3825G>C (p.Glu1275Asp) c.3807G>C (p.Glu1269Asp)
22	g.50721661G>T	CA515263132	SHANK3	c.3429G>T (p.Glu1143Asp) n.4013G>T c.2481G>T (p.Glu827Asp) c.1971G>T (p.Glu657Asp) c.2427G>T (n.2427G>T) c.3825G>T (p.Glu1275Asp) c.3807G>T (p.Glu1269Asp)	gnomAD v4
22	g.50721662C>A	CA515263135	SHANK3	c.3430C>A (p.Pro1144Thr) n.4014C>A c.2482C>A (p.Pro828Thr) c.1972C>A (p.Pro658Thr) c.2428C>A (n.2428C>A) c.3826C>A (p.Pro1276Thr) c.3808C>A (p.Pro1270Thr)
22	g.50721662C>G	CA515263136	SHANK3	c.3430C>G (p.Pro1144Ala) n.4014C>G c.2482C>G (p.Pro828Ala) c.1972C>G (p.Pro658Ala) c.2428C>G (n.2428C>G) c.3826C>G (p.Pro1276Ala) c.3808C>G (p.Pro1270Ala)
22	g.50721662C>T	CA515263137	SHANK3	c.3430C>T (p.Pro1144Ser) n.4014C>T c.2482C>T (p.Pro828Ser) c.1972C>T (p.Pro658Ser) c.2428C>T (n.2428C>T) c.3826C>T (p.Pro1276Ser) c.3808C>T (p.Pro1270Ser)	gnomAD v4
22	g.50721663C>A	CA515263138	SHANK3	c.3431C>A (p.Pro1144Gln) n.4015C>A c.2483C>A (p.Pro828Gln) c.1973C>A (p.Pro658Gln) c.2429C>A (n.2429C>A) c.3827C>A (p.Pro1276Gln) c.3809C>A (p.Pro1270Gln)
22	g.50721663C>G	CA515263139	SHANK3	c.3431C>G (p.Pro1144Arg) n.4015C>G c.2483C>G (p.Pro828Arg) c.1973C>G (p.Pro658Arg) c.2429C>G (n.2429C>G) c.3827C>G (p.Pro1276Arg) c.3809C>G (p.Pro1270Arg)
22	g.50721663C>T	CA515263140	SHANK3	c.3431C>T (p.Pro1144Leu) n.4015C>T c.2483C>T (p.Pro828Leu) c.1973C>T (p.Pro658Leu) c.2429C>T (n.2429C>T) c.3827C>T (p.Pro1276Leu) c.3809C>T (p.Pro1270Leu)
22	g.50721664A=	CA2411008385	SHANK3	c.3432A= (p.Pro1144=) n.4016A= c.2484A= (p.Pro828=) c.1974A= (p.Pro658=) c.2430A= (n.2430A=) c.3828A= (p.Pro1276=) c.3810A= (p.Pro1270=)
22	g.50721664A>C	CA515263141	SHANK3	c.3432A>C (p.Pro1144=) n.4016A>C c.2484A>C (p.Pro828=) c.1974A>C (p.Pro658=) c.2430A>C (n.2430A>C) c.3828A>C (p.Pro1276=) c.3810A>C (p.Pro1270=)
22	g.50721664A>G	CA515263142	SHANK3	c.3432A>G (p.Pro1144=) n.4016A>G c.2484A>G (p.Pro828=) c.1974A>G (p.Pro658=) c.2430A>G (n.2430A>G) c.3828A>G (p.Pro1276=) c.3810A>G (p.Pro1270=)	dbSNP gnomAD v4
22	g.50721664A>T	CA515263143	SHANK3	c.3432A>T (p.Pro1144=) n.4016A>T c.2484A>T (p.Pro828=) c.1974A>T (p.Pro658=) c.2430A>T (n.2430A>T) c.3828A>T (p.Pro1276=) c.3810A>T (p.Pro1270=)
22	g.50721665G>A	CA515263144	SHANK3	c.3433G>A (p.Glu1145Lys) n.4017G>A c.2485G>A (p.Glu829Lys) c.1975G>A (p.Glu659Lys) c.2431G>A (n.2431G>A) c.3829G>A (p.Glu1277Lys) c.3811G>A (p.Glu1271Lys)
22	g.50721665G>C	CA515263145	SHANK3	c.3433G>C (p.Glu1145Gln) n.4017G>C c.2485G>C (p.Glu829Gln) c.1975G>C (p.Glu659Gln) c.2431G>C (n.2431G>C) c.3829G>C (p.Glu1277Gln) c.3811G>C (p.Glu1271Gln)
22	g.50721665G>T	CA515263146	SHANK3	c.3433G>T (p.Glu1145Ter) n.4017G>T c.2485G>T (p.Glu829Ter) c.1975G>T (p.Glu659Ter) c.2431G>T (n.2431G>T) c.3829G>T (p.Glu1277Ter) c.3811G>T (p.Glu1271Ter)
22	g.50721666A>C	CA515263148	SHANK3	c.3434A>C (p.Glu1145Ala) n.4018A>C c.2486A>C (p.Glu829Ala) c.1976A>C (p.Glu659Ala) c.2432A>C (n.2432A>C) c.3830A>C (p.Glu1277Ala) c.3812A>C (p.Glu1271Ala)
22	g.50721666A>G	CA515263149	SHANK3	c.3434A>G (p.Glu1145Gly) n.4018A>G c.2486A>G (p.Glu829Gly) c.1976A>G (p.Glu659Gly) c.2432A>G (n.2432A>G) c.3830A>G (p.Glu1277Gly) c.3812A>G (p.Glu1271Gly)
22	g.50721666A>T	CA515263147	SHANK3	c.3434A>T (p.Glu1145Val) n.4018A>T c.2486A>T (p.Glu829Val) c.1976A>T (p.Glu659Val) c.2432A>T (n.2432A>T) c.3830A>T (p.Glu1277Val) c.3812A>T (p.Glu1271Val)
22	g.50721667G>A	CA515263150	SHANK3	c.3435G>A (p.Glu1145=) n.4019G>A c.2487G>A (p.Glu829=) c.1977G>A (p.Glu659=) c.2433G>A (n.2433G>A) c.3831G>A (p.Glu1277=) c.3813G>A (p.Glu1271=)	dbSNP gnomAD v4
22	g.50721667G>C	CA515263151	SHANK3	c.3435G>C (p.Glu1145Asp) n.4019G>C c.2487G>C (p.Glu829Asp) c.1977G>C (p.Glu659Asp) c.2433G>C (n.2433G>C) c.3831G>C (p.Glu1277Asp) c.3813G>C (p.Glu1271Asp)
22	g.50721667G=	CA2411008386	SHANK3	c.3435G= (p.Glu1145=) n.4019G= c.2487G= (p.Glu829=) c.1977G= (p.Glu659=) c.2433G= (n.2433G=) c.3831G= (p.Glu1277=) c.3813G= (p.Glu1271=)
22	g.50721667G>T	CA10326153	SHANK3	c.3435G>T (p.Glu1145Asp) n.4019G>T c.2487G>T (p.Glu829Asp) c.1977G>T (p.Glu659Asp) c.2433G>T (n.2433G>T) c.3831G>T (p.Glu1277Asp) c.3813G>T (p.Glu1271Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721668C>A	CA515263152	SHANK3	c.3436C>A (p.Leu1146Met) n.4020C>A c.2488C>A (p.Leu830Met) c.1978C>A (p.Leu660Met) c.2434C>A (n.2434C>A) c.3832C>A (p.Leu1278Met) c.3814C>A (p.Leu1272Met)
22	g.50721668C=	CA2411008387	SHANK3	c.3436C= (p.Leu1146=) n.4020C= c.2488C= (p.Leu830=) c.1978C= (p.Leu660=) c.2434C= (n.2434C=) c.3832C= (p.Leu1278=) c.3814C= (p.Leu1272=)
22	g.50721668C>G	CA515263153	SHANK3	c.3436C>G (p.Leu1146Val) n.4020C>G c.2488C>G (p.Leu830Val) c.1978C>G (p.Leu660Val) c.2434C>G (n.2434C>G) c.3832C>G (p.Leu1278Val) c.3814C>G (p.Leu1272Val)	dbSNP gnomAD v4
22	g.50721668C>T	CA515263154	SHANK3	c.3436C>T (p.Leu1146=) n.4020C>T c.2488C>T (p.Leu830=) c.1978C>T (p.Leu660=) c.2434C>T (n.2434C>T) c.3832C>T (p.Leu1278=) c.3814C>T (p.Leu1272=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721669T>A	CA515263156	SHANK3	c.3437T>A (p.Leu1146Gln) n.4021T>A c.2489T>A (p.Leu830Gln) c.1979T>A (p.Leu660Gln) c.2435T>A (n.2435T>A) c.3833T>A (p.Leu1278Gln) c.3815T>A (p.Leu1272Gln)
22	g.50721669T>C	CA515263155	SHANK3	c.3437T>C (p.Leu1146Pro) n.4021T>C c.2489T>C (p.Leu830Pro) c.1979T>C (p.Leu660Pro) c.2435T>C (n.2435T>C) c.3833T>C (p.Leu1278Pro) c.3815T>C (p.Leu1272Pro)	dbSNP gnomAD v4
22	g.50721669T>G	CA10326154	SHANK3	c.3437T>G (p.Leu1146Arg) n.4021T>G c.2489T>G (p.Leu830Arg) c.1979T>G (p.Leu660Arg) c.2435T>G (n.2435T>G) c.3833T>G (p.Leu1278Arg) c.3815T>G (p.Leu1272Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721669T=	CA2411008388	SHANK3	c.3437T= (p.Leu1146=) n.4021T= c.2489T= (p.Leu830=) c.1979T= (p.Leu660=) c.2435T= (n.2435T=) c.3833T= (p.Leu1278=) c.3815T= (p.Leu1272=)
22	g.50721670G>A	CA515263157	SHANK3	c.3438G>A (p.Leu1146=) n.4022G>A c.2490G>A (p.Leu830=) c.1980G>A (p.Leu660=) c.2436G>A (n.2436G>A) c.3834G>A (p.Leu1278=) c.3816G>A (p.Leu1272=)	gnomAD v4
22	g.50721670G>C	CA515263158	SHANK3	c.3438G>C (p.Leu1146=) n.4022G>C c.2490G>C (p.Leu830=) c.1980G>C (p.Leu660=) c.2436G>C (n.2436G>C) c.3834G>C (p.Leu1278=) c.3816G>C (p.Leu1272=)
22	g.50721670G>T	CA515263159	SHANK3	c.3438G>T (p.Leu1146=) n.4022G>T c.2490G>T (p.Leu830=) c.1980G>T (p.Leu660=) c.2436G>T (n.2436G>T) c.3834G>T (p.Leu1278=) c.3816G>T (p.Leu1272=)
22	g.50721671G>A	CA515263160	SHANK3	c.3439G>A (p.Val1147Met) n.4023G>A c.2491G>A (p.Val831Met) c.1981G>A (p.Val661Met) c.2437G>A (n.2437G>A) c.3835G>A (p.Val1279Met) c.3817G>A (p.Val1273Met)	dbSNP gnomAD v3 gnomAD v4
22	g.50721671G>C	CA515263161	SHANK3	c.3439G>C (p.Val1147Leu) n.4023G>C c.2491G>C (p.Val831Leu) c.1981G>C (p.Val661Leu) c.2437G>C (n.2437G>C) c.3835G>C (p.Val1279Leu) c.3817G>C (p.Val1273Leu)
22	g.50721671G=	CA2411008389	SHANK3	c.3439G= (p.Val1147=) n.4023G= c.2491G= (p.Val831=) c.1981G= (p.Val661=) c.2437G= (n.2437G=) c.3835G= (p.Val1279=) c.3817G= (p.Val1273=)
22	g.50721671G>T	CA515263162	SHANK3	c.3439G>T (p.Val1147Leu) n.4023G>T c.2491G>T (p.Val831Leu) c.1981G>T (p.Val661Leu) c.2437G>T (n.2437G>T) c.3835G>T (p.Val1279Leu) c.3817G>T (p.Val1273Leu)
22	g.50721672T>A	CA515263163	SHANK3	c.3440T>A (p.Val1147Glu) n.4024T>A c.2492T>A (p.Val831Glu) c.1982T>A (p.Val661Glu) c.2438T>A (n.2438T>A) c.3836T>A (p.Val1279Glu) c.3818T>A (p.Val1273Glu)
22	g.50721672T>C	CA10326155	SHANK3	c.3440T>C (p.Val1147Ala) n.4024T>C c.2492T>C (p.Val831Ala) c.1982T>C (p.Val661Ala) c.2438T>C (n.2438T>C) c.3836T>C (p.Val1279Ala) c.3818T>C (p.Val1273Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721672T>G	CA515263164	SHANK3	c.3440T>G (p.Val1147Gly) n.4024T>G c.2492T>G (p.Val831Gly) c.1982T>G (p.Val661Gly) c.2438T>G (n.2438T>G) c.3836T>G (p.Val1279Gly) c.3818T>G (p.Val1273Gly)
22	g.50721672T=	CA2411008390	SHANK3	c.3440T= (p.Val1147=) n.4024T= c.2492T= (p.Val831=) c.1982T= (p.Val661=) c.2438T= (n.2438T=) c.3836T= (p.Val1279=) c.3818T= (p.Val1273=)
22	g.50721673G>A	CA515263165	SHANK3	c.3441G>A (p.Val1147=) n.4025G>A c.2493G>A (p.Val831=) c.1983G>A (p.Val661=) c.2439G>A (n.2439G>A) c.3837G>A (p.Val1279=) c.3819G>A (p.Val1273=)
22	g.50721673G>C	CA515263166	SHANK3	c.3441G>C (p.Val1147=) n.4025G>C c.2493G>C (p.Val831=) c.1983G>C (p.Val661=) c.2439G>C (n.2439G>C) c.3837G>C (p.Val1279=) c.3819G>C (p.Val1273=)
22	g.50721673G>T	CA515263167	SHANK3	c.3441G>T (p.Val1147=) n.4025G>T c.2493G>T (p.Val831=) c.1983G>T (p.Val661=) c.2439G>T (n.2439G>T) c.3837G>T (p.Val1279=) c.3819G>T (p.Val1273=)
22	g.50721674T>A	CA515263168	SHANK3	c.3442T>A (p.Phe1148Ile) n.4026T>A c.2494T>A (p.Phe832Ile) c.1984T>A (p.Phe662Ile) c.2440T>A (n.2440T>A) c.3838T>A (p.Phe1280Ile) c.3820T>A (p.Phe1274Ile)
22	g.50721674T>C	CA515263169	SHANK3	c.3442T>C (p.Phe1148Leu) n.4026T>C c.2494T>C (p.Phe832Leu) c.1984T>C (p.Phe662Leu) c.2440T>C (n.2440T>C) c.3838T>C (p.Phe1280Leu) c.3820T>C (p.Phe1274Leu)
22	g.50721674T>G	CA515263170	SHANK3	c.3442T>G (p.Phe1148Val) n.4026T>G c.2494T>G (p.Phe832Val) c.1984T>G (p.Phe662Val) c.2440T>G (n.2440T>G) c.3838T>G (p.Phe1280Val) c.3820T>G (p.Phe1274Val)
22	g.50721675T>A	CA515263171	SHANK3	c.3443T>A (p.Phe1148Tyr) n.4027T>A c.2495T>A (p.Phe832Tyr) c.1985T>A (p.Phe662Tyr) c.2441T>A (n.2441T>A) c.3839T>A (p.Phe1280Tyr) c.3821T>A (p.Phe1274Tyr)
22	g.50721675T>C	CA515263172	SHANK3	c.3443T>C (p.Phe1148Ser) n.4027T>C c.2495T>C (p.Phe832Ser) c.1985T>C (p.Phe662Ser) c.2441T>C (n.2441T>C) c.3839T>C (p.Phe1280Ser) c.3821T>C (p.Phe1274Ser)
22	g.50721675T>G	CA515263173	SHANK3	c.3443T>G (p.Phe1148Cys) n.4027T>G c.2495T>G (p.Phe832Cys) c.1985T>G (p.Phe662Cys) c.2441T>G (n.2441T>G) c.3839T>G (p.Phe1280Cys) c.3821T>G (p.Phe1274Cys)
22	g.50721676T>A	CA515263174	SHANK3	c.3444T>A (p.Phe1148Leu) n.4028T>A c.2496T>A (p.Phe832Leu) c.1986T>A (p.Phe662Leu) c.2442T>A (n.2442T>A) c.3840T>A (p.Phe1280Leu) c.3822T>A (p.Phe1274Leu)
22	g.50721676T>C	CA515263175	SHANK3	c.3444T>C (p.Phe1148=) n.4028T>C c.2496T>C (p.Phe832=) c.1986T>C (p.Phe662=) c.2442T>C (n.2442T>C) c.3840T>C (p.Phe1280=) c.3822T>C (p.Phe1274=)
22	g.50721676T>G	CA515263176	SHANK3	c.3444T>G (p.Phe1148Leu) n.4028T>G c.2496T>G (p.Phe832Leu) c.1986T>G (p.Phe662Leu) c.2442T>G (n.2442T>G) c.3840T>G (p.Phe1280Leu) c.3822T>G (p.Phe1274Leu)
22	g.50721677G>A	CA515263177	SHANK3	c.3445G>A (p.Ala1149Thr) n.4029G>A c.2497G>A (p.Ala833Thr) c.1987G>A (p.Ala663Thr) c.2443G>A (n.2443G>A) c.3841G>A (p.Ala1281Thr) c.3823G>A (p.Ala1275Thr)
22	g.50721677G>C	CA515263179	SHANK3	c.3445G>C (p.Ala1149Pro) n.4029G>C c.2497G>C (p.Ala833Pro) c.1987G>C (p.Ala663Pro) c.2443G>C (n.2443G>C) c.3841G>C (p.Ala1281Pro) c.3823G>C (p.Ala1275Pro)
22	g.50721677G>T	CA515263178	SHANK3	c.3445G>T (p.Ala1149Ser) n.4029G>T c.2497G>T (p.Ala833Ser) c.1987G>T (p.Ala663Ser) c.2443G>T (n.2443G>T) c.3841G>T (p.Ala1281Ser) c.3823G>T (p.Ala1275Ser)
22	g.50721678C>A	CA515263180	SHANK3	c.3446C>A (p.Ala1149Asp) n.4030C>A c.2498C>A (p.Ala833Asp) c.1988C>A (p.Ala663Asp) c.2444C>A (n.2444C>A) c.3842C>A (p.Ala1281Asp) c.3824C>A (p.Ala1275Asp)
22	g.50721678C>G	CA515263181	SHANK3	c.3446C>G (p.Ala1149Gly) n.4030C>G c.2498C>G (p.Ala833Gly) c.1988C>G (p.Ala663Gly) c.2444C>G (n.2444C>G) c.3842C>G (p.Ala1281Gly) c.3824C>G (p.Ala1275Gly)	gnomAD v4
22	g.50721678C>T	CA515263182	SHANK3	c.3446C>T (p.Ala1149Val) n.4030C>T c.2498C>T (p.Ala833Val) c.1988C>T (p.Ala663Val) c.2444C>T (n.2444C>T) c.3842C>T (p.Ala1281Val) c.3824C>T (p.Ala1275Val)
22	g.50721679T>A	CA515263183	SHANK3	c.3447T>A (p.Ala1149=) n.4031T>A c.2499T>A (p.Ala833=) c.1989T>A (p.Ala663=) c.2445T>A (n.2445T>A) c.3843T>A (p.Ala1281=) c.3825T>A (p.Ala1275=)
22	g.50721679T>C	CA515263184	SHANK3	c.3447T>C (p.Ala1149=) n.4031T>C c.2499T>C (p.Ala833=) c.1989T>C (p.Ala663=) c.2445T>C (n.2445T>C) c.3843T>C (p.Ala1281=) c.3825T>C (p.Ala1275=)	gnomAD v4
22	g.50721679T>G	CA515263186	SHANK3	c.3447T>G (p.Ala1149=) n.4031T>G c.2499T>G (p.Ala833=) c.1989T>G (p.Ala663=) c.2445T>G (n.2445T>G) c.3843T>G (p.Ala1281=) c.3825T>G (p.Ala1275=)
22	g.50721680G>A	CA515263187	SHANK3	c.3448G>A (p.Val1150Met) n.4032G>A c.2500G>A (p.Val834Met) c.1990G>A (p.Val664Met) c.2446G>A (n.2446G>A) c.3844G>A (p.Val1282Met) c.3826G>A (p.Val1276Met)	dbSNP gnomAD v4
22	g.50721680G>C	CA515263188	SHANK3	c.3448G>C (p.Val1150Leu) n.4032G>C c.2500G>C (p.Val834Leu) c.1990G>C (p.Val664Leu) c.2446G>C (n.2446G>C) c.3844G>C (p.Val1282Leu) c.3826G>C (p.Val1276Leu)	dbSNP gnomAD v4
22	g.50721680G=	CA2411008391	SHANK3	c.3448G= (p.Val1150=) n.4032G= c.2500G= (p.Val834=) c.1990G= (p.Val664=) c.2446G= (n.2446G=) c.3844G= (p.Val1282=) c.3826G= (p.Val1276=)
22	g.50721680G>T	CA515263190	SHANK3	c.3448G>T (p.Val1150Leu) n.4032G>T c.2500G>T (p.Val834Leu) c.1990G>T (p.Val664Leu) c.2446G>T (n.2446G>T) c.3844G>T (p.Val1282Leu) c.3826G>T (p.Val1276Leu)
22	g.50721681T>A	CA515263191	SHANK3	c.3449T>A (p.Val1150Glu) n.4033T>A c.2501T>A (p.Val834Glu) c.1991T>A (p.Val664Glu) c.2447T>A (n.2447T>A) c.3845T>A (p.Val1282Glu) c.3827T>A (p.Val1276Glu)
22	g.50721681T>C	CA515263192	SHANK3	c.3449T>C (p.Val1150Ala) n.4033T>C c.2501T>C (p.Val834Ala) c.1991T>C (p.Val664Ala) c.2447T>C (n.2447T>C) c.3845T>C (p.Val1282Ala) c.3827T>C (p.Val1276Ala)
22	g.50721681T>G	CA515263193	SHANK3	c.3449T>G (p.Val1150Gly) n.4033T>G c.2501T>G (p.Val834Gly) c.1991T>G (p.Val664Gly) c.2447T>G (n.2447T>G) c.3845T>G (p.Val1282Gly) c.3827T>G (p.Val1276Gly)
22	g.50721682G>A	CA515263196	SHANK3	c.3450G>A (p.Val1150=) n.4034G>A c.2502G>A (p.Val834=) c.1992G>A (p.Val664=) c.2448G>A (n.2448G>A) c.3846G>A (p.Val1282=) c.3828G>A (p.Val1276=)
22	g.50721682G>C	CA515263195	SHANK3	c.3450G>C (p.Val1150=) n.4034G>C c.2502G>C (p.Val834=) c.1992G>C (p.Val664=) c.2448G>C (n.2448G>C) c.3846G>C (p.Val1282=) c.3828G>C (p.Val1276=)
22	g.50721682G>T	CA515263194	SHANK3	c.3450G>T (p.Val1150=) n.4034G>T c.2502G>T (p.Val834=) c.1992G>T (p.Val664=) c.2448G>T (n.2448G>T) c.3846G>T (p.Val1282=) c.3828G>T (p.Val1276=)
22	g.50721683A=	CA2411008392	SHANK3	c.3451A= (p.Asn1151=) n.4035A= c.2503A= (p.Asn835=) c.1993A= (p.Asn665=) c.2449A= (n.2449A=) c.3847A= (p.Asn1283=) c.3829A= (p.Asn1277=)
22	g.50721683A>C	CA515263197	SHANK3	c.3451A>C (p.Asn1151His) n.4035A>C c.2503A>C (p.Asn835His) c.1993A>C (p.Asn665His) c.2449A>C (n.2449A>C) c.3847A>C (p.Asn1283His) c.3829A>C (p.Asn1277His)	dbSNP
22	g.50721683A>G	CA515263198	SHANK3	c.3451A>G (p.Asn1151Asp) n.4035A>G c.2503A>G (p.Asn835Asp) c.1993A>G (p.Asn665Asp) c.2449A>G (n.2449A>G) c.3847A>G (p.Asn1283Asp) c.3829A>G (p.Asn1277Asp)
22	g.50721683A>T	CA515263199	SHANK3	c.3451A>T (p.Asn1151Tyr) n.4035A>T c.2503A>T (p.Asn835Tyr) c.1993A>T (p.Asn665Tyr) c.2449A>T (n.2449A>T) c.3847A>T (p.Asn1283Tyr) c.3829A>T (p.Asn1277Tyr)
22	g.50721684A=	CA2411008393	SHANK3	c.3452A= (p.Asn1151=) n.4036A= c.2504A= (p.Asn835=) c.1994A= (p.Asn665=) c.2450A= (n.2450A=) c.3848A= (p.Asn1283=) c.3830A= (p.Asn1277=)
22	g.50721684A>C	CA515263200	SHANK3	c.3452A>C (p.Asn1151Thr) n.4036A>C c.2504A>C (p.Asn835Thr) c.1994A>C (p.Asn665Thr) c.2450A>C (n.2450A>C) c.3848A>C (p.Asn1283Thr) c.3830A>C (p.Asn1277Thr)
22	g.50721684A>G	CA515263201	SHANK3	c.3452A>G (p.Asn1151Ser) n.4036A>G c.2504A>G (p.Asn835Ser) c.1994A>G (p.Asn665Ser) c.2450A>G (n.2450A>G) c.3848A>G (p.Asn1283Ser) c.3830A>G (p.Asn1277Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50721684A>T	CA515263202	SHANK3	c.3452A>T (p.Asn1151Ile) n.4036A>T c.2504A>T (p.Asn835Ile) c.1994A>T (p.Asn665Ile) c.2450A>T (n.2450A>T) c.3848A>T (p.Asn1283Ile) c.3830A>T (p.Asn1277Ile)
22	g.50721685C>A	CA515263203	SHANK3	c.3453C>A (p.Asn1151Lys) n.4037C>A c.2505C>A (p.Asn835Lys) c.1995C>A (p.Asn665Lys) c.2451C>A (n.2451C>A) c.3849C>A (p.Asn1283Lys) c.3831C>A (p.Asn1277Lys)
22	g.50721685C=	CA2411008394	SHANK3	c.3453C= (p.Asn1151=) n.4037C= c.2505C= (p.Asn835=) c.1995C= (p.Asn665=) c.2451C= (n.2451C=) c.3849C= (p.Asn1283=) c.3831C= (p.Asn1277=)
22	g.50721685C>G	CA515263204	SHANK3	c.3453C>G (p.Asn1151Lys) n.4037C>G c.2505C>G (p.Asn835Lys) c.1995C>G (p.Asn665Lys) c.2451C>G (n.2451C>G) c.3849C>G (p.Asn1283Lys) c.3831C>G (p.Asn1277Lys)
22	g.50721685C>T	CA10326156	SHANK3	c.3453C>T (p.Asn1151=) n.4037C>T c.2505C>T (p.Asn835=) c.1995C>T (p.Asn665=) c.2451C>T (n.2451C>T) c.3849C>T (p.Asn1283=) c.3831C>T (p.Asn1277=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721686C>A	CA515263205	SHANK3	c.3454C>A (p.Leu1152Met) n.4038C>A c.2506C>A (p.Leu836Met) c.1996C>A (p.Leu666Met) c.2452C>A (n.2452C>A) c.3850C>A (p.Leu1284Met) c.3832C>A (p.Leu1278Met)
22	g.50721686C=	CA2411008395	SHANK3	c.3454C= (p.Leu1152=) n.4038C= c.2506C= (p.Leu836=) c.1996C= (p.Leu666=) c.2452C= (n.2452C=) c.3850C= (p.Leu1284=) c.3832C= (p.Leu1278=)
22	g.50721686C>G	CA515263206	SHANK3	c.3454C>G (p.Leu1152Val) n.4038C>G c.2506C>G (p.Leu836Val) c.1996C>G (p.Leu666Val) c.2452C>G (n.2452C>G) c.3850C>G (p.Leu1284Val) c.3832C>G (p.Leu1278Val)
22	g.50721686C>T	CA10326157	SHANK3	c.3454C>T (p.Leu1152=) n.4038C>T c.2506C>T (p.Leu836=) c.1996C>T (p.Leu666=) c.2452C>T (n.2452C>T) c.3850C>T (p.Leu1284=) c.3832C>T (p.Leu1278=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721687T>A	CA515263209	SHANK3	c.3455T>A (p.Leu1152Gln) n.4039T>A c.2507T>A (p.Leu836Gln) c.1997T>A (p.Leu666Gln) c.2453T>A (n.2453T>A) c.3851T>A (p.Leu1284Gln) c.3833T>A (p.Leu1278Gln)
22	g.50721687T>C	CA515263207	SHANK3	c.3455T>C (p.Leu1152Pro) n.4039T>C c.2507T>C (p.Leu836Pro) c.1997T>C (p.Leu666Pro) c.2453T>C (n.2453T>C) c.3851T>C (p.Leu1284Pro) c.3833T>C (p.Leu1278Pro)
22	g.50721687T>G	CA515263208	SHANK3	c.3455T>G (p.Leu1152Arg) n.4039T>G c.2507T>G (p.Leu836Arg) c.1997T>G (p.Leu666Arg) c.2453T>G (n.2453T>G) c.3851T>G (p.Leu1284Arg) c.3833T>G (p.Leu1278Arg)
22	g.50721688G>A	CA515263210	SHANK3	c.3456G>A (p.Leu1152=) n.4040G>A c.2508G>A (p.Leu836=) c.1998G>A (p.Leu666=) c.2454G>A (n.2454G>A) c.3852G>A (p.Leu1284=) c.3834G>A (p.Leu1278=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721688G>C	CA515263211	SHANK3	c.3456G>C (p.Leu1152=) n.4040G>C c.2508G>C (p.Leu836=) c.1998G>C (p.Leu666=) c.2454G>C (n.2454G>C) c.3852G>C (p.Leu1284=) c.3834G>C (p.Leu1278=)	dbSNP gnomAD v4
22	g.50721688G=	CA2411008396	SHANK3	c.3456G= (p.Leu1152=) n.4040G= c.2508G= (p.Leu836=) c.1998G= (p.Leu666=) c.2454G= (n.2454G=) c.3852G= (p.Leu1284=) c.3834G= (p.Leu1278=)
22	g.50721688G>T	CA515263212	SHANK3	c.3456G>T (p.Leu1152=) n.4040G>T c.2508G>T (p.Leu836=) c.1998G>T (p.Leu666=) c.2454G>T (n.2454G>T) c.3852G>T (p.Leu1284=) c.3834G>T (p.Leu1278=)
22	g.50721689C>A	CA515263213	SHANK3	c.3457C>A (p.Pro1153Thr) n.4041C>A c.2509C>A (p.Pro837Thr) c.1999C>A (p.Pro667Thr) c.2455C>A (n.2455C>A) c.3853C>A (p.Pro1285Thr) c.3835C>A (p.Pro1279Thr)
22	g.50721689C=	CA2411008397	SHANK3	c.3457C= (p.Pro1153=) n.4041C= c.2509C= (p.Pro837=) c.1999C= (p.Pro667=) c.2455C= (n.2455C=) c.3853C= (p.Pro1285=) c.3835C= (p.Pro1279=)
22	g.50721689C>G	CA515263214	SHANK3	c.3457C>G (p.Pro1153Ala) n.4041C>G c.2509C>G (p.Pro837Ala) c.1999C>G (p.Pro667Ala) c.2455C>G (n.2455C>G) c.3853C>G (p.Pro1285Ala) c.3835C>G (p.Pro1279Ala)
22	g.50721689C>T	CA515263215	SHANK3	c.3457C>T (p.Pro1153Ser) n.4041C>T c.2509C>T (p.Pro837Ser) c.1999C>T (p.Pro667Ser) c.2455C>T (n.2455C>T) c.3853C>T (p.Pro1285Ser) c.3835C>T (p.Pro1279Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50721690C>A	CA515263218	SHANK3	c.3458C>A (p.Pro1153Gln) n.4042C>A c.2510C>A (p.Pro837Gln) c.2000C>A (p.Pro667Gln) c.2456C>A (n.2456C>A) c.3854C>A (p.Pro1285Gln) c.3836C>A (p.Pro1279Gln)	COSMIC COSMIC
22	g.50721690C=	CA2411008398	SHANK3	c.3458C= (p.Pro1153=) n.4042C= c.2510C= (p.Pro837=) c.2000C= (p.Pro667=) c.2456C= (n.2456C=) c.3854C= (p.Pro1285=) c.3836C= (p.Pro1279=)
22	g.50721690C>G	CA515263217	SHANK3	c.3458C>G (p.Pro1153Arg) n.4042C>G c.2510C>G (p.Pro837Arg) c.2000C>G (p.Pro667Arg) c.2456C>G (n.2456C>G) c.3854C>G (p.Pro1285Arg) c.3836C>G (p.Pro1279Arg)
22	g.50721690C>T	CA515263216	SHANK3	c.3458C>T (p.Pro1153Leu) n.4042C>T c.2510C>T (p.Pro837Leu) c.2000C>T (p.Pro667Leu) c.2456C>T (n.2456C>T) c.3854C>T (p.Pro1285Leu) c.3836C>T (p.Pro1279Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50721691A=	CA2411008399	SHANK3	c.3459A= (p.Pro1153=) n.4043A= c.2511A= (p.Pro837=) c.2001A= (p.Pro667=) c.2457A= (n.2457A=) c.3855A= (p.Pro1285=) c.3837A= (p.Pro1279=)
22	g.50721691A>C	CA515263219	SHANK3	c.3459A>C (p.Pro1153=) n.4043A>C c.2511A>C (p.Pro837=) c.2001A>C (p.Pro667=) c.2457A>C (n.2457A>C) c.3855A>C (p.Pro1285=) c.3837A>C (p.Pro1279=)
22	g.50721691A>G	CA10326158	SHANK3	c.3459A>G (p.Pro1153=) n.4043A>G c.2511A>G (p.Pro837=) c.2001A>G (p.Pro667=) c.2457A>G (n.2457A>G) c.3855A>G (p.Pro1285=) c.3837A>G (p.Pro1279=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721691A>T	CA515263220	SHANK3	c.3459A>T (p.Pro1153=) n.4043A>T c.2511A>T (p.Pro837=) c.2001A>T (p.Pro667=) c.2457A>T (n.2457A>T) c.3855A>T (p.Pro1285=) c.3837A>T (p.Pro1279=)
22	g.50721692C>A	CA515263221	SHANK3	c.3460C>A (p.Pro1154Thr) n.4044C>A c.2512C>A (p.Pro838Thr) c.2002C>A (p.Pro668Thr) c.2458C>A (n.2458C>A) c.3856C>A (p.Pro1286Thr) c.3838C>A (p.Pro1280Thr)
22	g.50721692C=	CA2411008400	SHANK3	c.3460C= (p.Pro1154=) n.4044C= c.2512C= (p.Pro838=) c.2002C= (p.Pro668=) c.2458C= (n.2458C=) c.3856C= (p.Pro1286=) c.3838C= (p.Pro1280=)
22	g.50721692C>G	CA515263222	SHANK3	c.3460C>G (p.Pro1154Ala) n.4044C>G c.2512C>G (p.Pro838Ala) c.2002C>G (p.Pro668Ala) c.2458C>G (n.2458C>G) c.3856C>G (p.Pro1286Ala) c.3838C>G (p.Pro1280Ala)	gnomAD v4
22	g.50721692C>T	CA515263223	SHANK3	c.3460C>T (p.Pro1154Ser) n.4044C>T c.2512C>T (p.Pro838Ser) c.2002C>T (p.Pro668Ser) c.2458C>T (n.2458C>T) c.3856C>T (p.Pro1286Ser) c.3838C>T (p.Pro1280Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50721693C>A	CA515263224	SHANK3	c.3461C>A (p.Pro1154His) n.4045C>A c.2513C>A (p.Pro838His) c.2003C>A (p.Pro668His) c.2459C>A (n.2459C>A) c.3857C>A (p.Pro1286His) c.3839C>A (p.Pro1280His)
22	g.50721693C=	CA2411008401	SHANK3	c.3461C= (p.Pro1154=) n.4045C= c.2513C= (p.Pro838=) c.2003C= (p.Pro668=) c.2459C= (n.2459C=) c.3857C= (p.Pro1286=) c.3839C= (p.Pro1280=)
22	g.50721693C>G	CA515263226	SHANK3	c.3461C>G (p.Pro1154Arg) n.4045C>G c.2513C>G (p.Pro838Arg) c.2003C>G (p.Pro668Arg) c.2459C>G (n.2459C>G) c.3857C>G (p.Pro1286Arg) c.3839C>G (p.Pro1280Arg)	gnomAD v4
22	g.50721693C>T	CA515263225	SHANK3	c.3461C>T (p.Pro1154Leu) n.4045C>T c.2513C>T (p.Pro838Leu) c.2003C>T (p.Pro668Leu) c.2459C>T (n.2459C>T) c.3857C>T (p.Pro1286Leu) c.3839C>T (p.Pro1280Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721694T>A	CA515263227	SHANK3	c.3462T>A (p.Pro1154=) n.4046T>A c.2514T>A (p.Pro838=) c.2004T>A (p.Pro668=) c.2460T>A (n.2460T>A) c.3858T>A (p.Pro1286=) c.3840T>A (p.Pro1280=)
22	g.50721694T>C	CA515263228	SHANK3	c.3462T>C (p.Pro1154=) n.4046T>C c.2514T>C (p.Pro838=) c.2004T>C (p.Pro668=) c.2460T>C (n.2460T>C) c.3858T>C (p.Pro1286=) c.3840T>C (p.Pro1280=)
22	g.50721694T>G	CA515263229	SHANK3	c.3462T>G (p.Pro1154=) n.4046T>G c.2514T>G (p.Pro838=) c.2004T>G (p.Pro668=) c.2460T>G (n.2460T>G) c.3858T>G (p.Pro1286=) c.3840T>G (p.Pro1280=)
22	g.50721695G>A	CA10326159	SHANK3	c.3463G>A (p.Ala1155Thr) n.4047G>A c.2515G>A (p.Ala839Thr) c.2005G>A (p.Ala669Thr) c.2461G>A (n.2461G>A) c.3859G>A (p.Ala1287Thr) c.3841G>A (p.Ala1281Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721695G>C	CA515263230	SHANK3	c.3463G>C (p.Ala1155Pro) n.4047G>C c.2515G>C (p.Ala839Pro) c.2005G>C (p.Ala669Pro) c.2461G>C (n.2461G>C) c.3859G>C (p.Ala1287Pro) c.3841G>C (p.Ala1281Pro)
22	g.50721695G=	CA2411008402	SHANK3	c.3463G= (p.Ala1155=) n.4047G= c.2515G= (p.Ala839=) c.2005G= (p.Ala669=) c.2461G= (n.2461G=) c.3859G= (p.Ala1287=) c.3841G= (p.Ala1281=)
22	g.50721695G>T	CA515263231	SHANK3	c.3463G>T (p.Ala1155Ser) n.4047G>T c.2515G>T (p.Ala839Ser) c.2005G>T (p.Ala669Ser) c.2461G>T (n.2461G>T) c.3859G>T (p.Ala1287Ser) c.3841G>T (p.Ala1281Ser)	gnomAD v4
22	g.50721696C>A	CA515263232	SHANK3	c.3464C>A (p.Ala1155Asp) n.4048C>A c.2516C>A (p.Ala839Asp) c.2006C>A (p.Ala669Asp) c.2462C>A (n.2462C>A) c.3860C>A (p.Ala1287Asp) c.3842C>A (p.Ala1281Asp)
22	g.50721696C=	CA2411008403	SHANK3	c.3464C= (p.Ala1155=) n.4048C= c.2516C= (p.Ala839=) c.2006C= (p.Ala669=) c.2462C= (n.2462C=) c.3860C= (p.Ala1287=) c.3842C= (p.Ala1281=)
22	g.50721696C>G	CA515263233	SHANK3	c.3464C>G (p.Ala1155Gly) n.4048C>G c.2516C>G (p.Ala839Gly) c.2006C>G (p.Ala669Gly) c.2462C>G (n.2462C>G) c.3860C>G (p.Ala1287Gly) c.3842C>G (p.Ala1281Gly)
22	g.50721696C>T	CA10326160	SHANK3	c.3464C>T (p.Ala1155Val) n.4048C>T c.2516C>T (p.Ala839Val) c.2006C>T (p.Ala669Val) c.2462C>T (n.2462C>T) c.3860C>T (p.Ala1287Val) c.3842C>T (p.Ala1281Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721697C>A	CA515263234	SHANK3	c.3465C>A (p.Ala1155=) n.4049C>A c.2517C>A (p.Ala839=) c.2007C>A (p.Ala669=) c.2463C>A (n.2463C>A) c.3861C>A (p.Ala1287=) c.3843C>A (p.Ala1281=)
22	g.50721697C=	CA2411008404	SHANK3	c.3465C= (p.Ala1155=) n.4049C= c.2517C= (p.Ala839=) c.2007C= (p.Ala669=) c.2463C= (n.2463C=) c.3861C= (p.Ala1287=) c.3843C= (p.Ala1281=)
22	g.50721697C>G	CA515263235	SHANK3	c.3465C>G (p.Ala1155=) n.4049C>G c.2517C>G (p.Ala839=) c.2007C>G (p.Ala669=) c.2463C>G (n.2463C>G) c.3861C>G (p.Ala1287=) c.3843C>G (p.Ala1281=)	dbSNP gnomAD v4
22	g.50721697C>T	CA10326161	SHANK3	c.3465C>T (p.Ala1155=) n.4049C>T c.2517C>T (p.Ala839=) c.2007C>T (p.Ala669=) c.2463C>T (n.2463C>T) c.3861C>T (p.Ala1287=) c.3843C>T (p.Ala1281=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721698C>A	CA515263237	SHANK3	c.3466C>A (p.Gln1156Lys) n.4050C>A c.2518C>A (p.Gln840Lys) c.2008C>A (p.Gln670Lys) c.2464C>A (n.2464C>A) c.3862C>A (p.Gln1288Lys) c.3844C>A (p.Gln1282Lys)
22	g.50721698C=	CA2411008405	SHANK3	c.3466C= (p.Gln1156=) n.4050C= c.2518C= (p.Gln840=) c.2008C= (p.Gln670=) c.2464C= (n.2464C=) c.3862C= (p.Gln1288=) c.3844C= (p.Gln1282=)
22	g.50721698C>G	CA515263236	SHANK3	c.3466C>G (p.Gln1156Glu) n.4050C>G c.2518C>G (p.Gln840Glu) c.2008C>G (p.Gln670Glu) c.2464C>G (n.2464C>G) c.3862C>G (p.Gln1288Glu) c.3844C>G (p.Gln1282Glu)
22	g.50721698C>T	CA325579586	SHANK3	c.3466C>T (p.Gln1156Ter) n.4050C>T c.2518C>T (p.Gln840Ter) c.2008C>T (p.Gln670Ter) c.2464C>T (n.2464C>T) c.3862C>T (p.Gln1288Ter) c.3844C>T (p.Gln1282Ter)	ClinVar dbSNP
22	g.50721699A>C	CA515263238	SHANK3	c.3467A>C (p.Gln1156Pro) n.4051A>C c.2519A>C (p.Gln840Pro) c.2009A>C (p.Gln670Pro) c.2465A>C (n.2465A>C) c.3863A>C (p.Gln1288Pro) c.3845A>C (p.Gln1282Pro)	gnomAD v4
22	g.50721699A>G	CA515263239	SHANK3	c.3467A>G (p.Gln1156Arg) n.4051A>G c.2519A>G (p.Gln840Arg) c.2009A>G (p.Gln670Arg) c.2465A>G (n.2465A>G) c.3863A>G (p.Gln1288Arg) c.3845A>G (p.Gln1282Arg)
22	g.50721699A>T	CA515263240	SHANK3	c.3467A>T (p.Gln1156Leu) n.4051A>T c.2519A>T (p.Gln840Leu) c.2009A>T (p.Gln670Leu) c.2465A>T (n.2465A>T) c.3863A>T (p.Gln1288Leu) c.3845A>T (p.Gln1282Leu)
22	g.50721700G>A	CA515263241	SHANK3	c.3468G>A (p.Gln1156=) n.4052G>A c.2520G>A (p.Gln840=) c.2010G>A (p.Gln670=) c.2466G>A (n.2466G>A) c.3864G>A (p.Gln1288=) c.3846G>A (p.Gln1282=)
22	g.50721700G>C	CA515263242	SHANK3	c.3468G>C (p.Gln1156His) n.4052G>C c.2520G>C (p.Gln840His) c.2010G>C (p.Gln670His) c.2466G>C (n.2466G>C) c.3864G>C (p.Gln1288His) c.3846G>C (p.Gln1282His)
22	g.50721700G>T	CA515263243	SHANK3	c.3468G>T (p.Gln1156His) n.4052G>T c.2520G>T (p.Gln840His) c.2010G>T (p.Gln670His) c.2466G>T (n.2466G>T) c.3864G>T (p.Gln1288His) c.3846G>T (p.Gln1282His)
22	g.50721701C>A	CA515263244	SHANK3	c.3469C>A (p.Leu1157Met) n.4053C>A c.2521C>A (p.Leu841Met) c.2011C>A (p.Leu671Met) c.2467C>A (n.2467C>A) c.3865C>A (p.Leu1289Met) c.3847C>A (p.Leu1283Met)	gnomAD v4
22	g.50721701C=	CA2411008406	SHANK3	c.3469C= (p.Leu1157=) n.4053C= c.2521C= (p.Leu841=) c.2011C= (p.Leu671=) c.2467C= (n.2467C=) c.3865C= (p.Leu1289=) c.3847C= (p.Leu1283=)
22	g.50721701C>G	CA515263245	SHANK3	c.3469C>G (p.Leu1157Val) n.4053C>G c.2521C>G (p.Leu841Val) c.2011C>G (p.Leu671Val) c.2467C>G (n.2467C>G) c.3865C>G (p.Leu1289Val) c.3847C>G (p.Leu1283Val)
22	g.50721701C>T	CA515263246	SHANK3	c.3469C>T (p.Leu1157=) n.4053C>T c.2521C>T (p.Leu841=) c.2011C>T (p.Leu671=) c.2467C>T (n.2467C>T) c.3865C>T (p.Leu1289=) c.3847C>T (p.Leu1283=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721702T>A	CA515263247	SHANK3	c.3470T>A (p.Leu1157Gln) n.4054T>A c.2522T>A (p.Leu841Gln) c.2012T>A (p.Leu671Gln) c.2468T>A (n.2468T>A) c.3866T>A (p.Leu1289Gln) c.3848T>A (p.Leu1283Gln)
22	g.50721702T>C	CA515263248	SHANK3	c.3470T>C (p.Leu1157Pro) n.4054T>C c.2522T>C (p.Leu841Pro) c.2012T>C (p.Leu671Pro) c.2468T>C (n.2468T>C) c.3866T>C (p.Leu1289Pro) c.3848T>C (p.Leu1283Pro)
22	g.50721702T>G	CA515263249	SHANK3	c.3470T>G (p.Leu1157Arg) n.4054T>G c.2522T>G (p.Leu841Arg) c.2012T>G (p.Leu671Arg) c.2468T>G (n.2468T>G) c.3866T>G (p.Leu1289Arg) c.3848T>G (p.Leu1283Arg)
22	g.50721702_50721705delinsTGTC	CA2411008407	SHANK3	c.3470_3473delinsTGTC (p.Leu1157=) n.4054_4057delinsTGTC c.2522_2525delinsTGTC (p.Leu841=) c.2012_2015delinsTGTC (p.Leu671=) c.2468_2471delinsTGTC (n.2468_2471delinsTGTC) c.3866_3869delinsTGTC (p.Leu1289=) c.3848_3851delinsTGTC (p.Leu1283=)
22	g.50721703G>A	CA515263252	SHANK3	c.3471G>A (p.Leu1157=) n.4055G>A c.2523G>A (p.Leu841=) c.2013G>A (p.Leu671=) c.2469G>A (n.2469G>A) c.3867G>A (p.Leu1289=) c.3849G>A (p.Leu1283=)
22	g.50721703G>C	CA515263251	SHANK3	c.3471G>C (p.Leu1157=) n.4055G>C c.2523G>C (p.Leu841=) c.2013G>C (p.Leu671=) c.2469G>C (n.2469G>C) c.3867G>C (p.Leu1289=) c.3849G>C (p.Leu1283=)
22	g.50721703G>T	CA515263250	SHANK3	c.3471G>T (p.Leu1157=) n.4055G>T c.2523G>T (p.Leu841=) c.2013G>T (p.Leu671=) c.2469G>T (n.2469G>T) c.3867G>T (p.Leu1289=) c.3849G>T (p.Leu1283=)
22	g.50721706_50721708del	CA10326162	SHANK3	c.3474_3476del (p.Ser1159del) n.4058_4060del c.2526_2528del (p.Ser843del) c.2016_2018del (p.Ser673del) c.2472_2474del (n.2472_2474del) c.3870_3872del (p.Ser1291del) c.3852_3854del (p.Ser1285del)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721704T>A	CA515263253	SHANK3	c.3472T>A (p.Ser1158Thr) n.4056T>A c.2524T>A (p.Ser842Thr) c.2014T>A (p.Ser672Thr) c.2470T>A (n.2470T>A) c.3868T>A (p.Ser1290Thr) c.3850T>A (p.Ser1284Thr)
22	g.50721704T>C	CA515263254	SHANK3	c.3472T>C (p.Ser1158Pro) n.4056T>C c.2524T>C (p.Ser842Pro) c.2014T>C (p.Ser672Pro) c.2470T>C (n.2470T>C) c.3868T>C (p.Ser1290Pro) c.3850T>C (p.Ser1284Pro)
22	g.50721704T>G	CA515263255	SHANK3	c.3472T>G (p.Ser1158Ala) n.4056T>G c.2524T>G (p.Ser842Ala) c.2014T>G (p.Ser672Ala) c.2470T>G (n.2470T>G) c.3868T>G (p.Ser1290Ala) c.3850T>G (p.Ser1284Ala)
22	g.50721705C>A	CA515263256	SHANK3	c.3473C>A (p.Ser1158Ter) n.4057C>A c.2525C>A (p.Ser842Ter) c.2015C>A (p.Ser672Ter) c.2471C>A (n.2471C>A) c.3869C>A (p.Ser1290Ter) c.3851C>A (p.Ser1284Ter)	gnomAD v4
22	g.50721705C=	CA2411008408	SHANK3	c.3473C= (p.Ser1158=) n.4057C= c.2525C= (p.Ser842=) c.2015C= (p.Ser672=) c.2471C= (n.2471C=) c.3869C= (p.Ser1290=) c.3851C= (p.Ser1284=)
22	g.50721705C>G	CA515263257	SHANK3	c.3473C>G (p.Ser1158Trp) n.4057C>G c.2525C>G (p.Ser842Trp) c.2015C>G (p.Ser672Trp) c.2471C>G (n.2471C>G) c.3869C>G (p.Ser1290Trp) c.3851C>G (p.Ser1284Trp)
22	g.50721705C>T	CA10326163	SHANK3	c.3473C>T (p.Ser1158Leu) n.4057C>T c.2525C>T (p.Ser842Leu) c.2015C>T (p.Ser672Leu) c.2471C>T (n.2471C>T) c.3869C>T (p.Ser1290Leu) c.3851C>T (p.Ser1284Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721706G>A	CA10326164	SHANK3	c.3474G>A (p.Ser1158=) n.4058G>A c.2526G>A (p.Ser842=) c.2016G>A (p.Ser672=) c.2472G>A (n.2472G>A) c.3870G>A (p.Ser1290=) c.3852G>A (p.Ser1284=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721706G>C	CA515263258	SHANK3	c.3474G>C (p.Ser1158=) n.4058G>C c.2526G>C (p.Ser842=) c.2016G>C (p.Ser672=) c.2472G>C (n.2472G>C) c.3870G>C (p.Ser1290=) c.3852G>C (p.Ser1284=)
22	g.50721706G=	CA2411008409	SHANK3	c.3474G= (p.Ser1158=) n.4058G= c.2526G= (p.Ser842=) c.2016G= (p.Ser672=) c.2472G= (n.2472G=) c.3870G= (p.Ser1290=) c.3852G= (p.Ser1284=)
22	g.50721706G>T	CA515263259	SHANK3	c.3474G>T (p.Ser1158=) n.4058G>T c.2526G>T (p.Ser842=) c.2016G>T (p.Ser672=) c.2472G>T (n.2472G>T) c.3870G>T (p.Ser1290=) c.3852G>T (p.Ser1284=)	COSMIC COSMIC COSMIC
22	g.50721707T>A	CA515263261	SHANK3	c.3475T>A (p.Ser1159Thr) n.4059T>A c.2527T>A (p.Ser843Thr) c.2017T>A (p.Ser673Thr) c.2473T>A (n.2473T>A) c.3871T>A (p.Ser1291Thr) c.3853T>A (p.Ser1285Thr)
22	g.50721707T>C	CA515263262	SHANK3	c.3475T>C (p.Ser1159Pro) n.4059T>C c.2527T>C (p.Ser843Pro) c.2017T>C (p.Ser673Pro) c.2473T>C (n.2473T>C) c.3871T>C (p.Ser1291Pro) c.3853T>C (p.Ser1285Pro)
22	g.50721707T>G	CA515263263	SHANK3	c.3475T>G (p.Ser1159Ala) n.4059T>G c.2527T>G (p.Ser843Ala) c.2017T>G (p.Ser673Ala) c.2473T>G (n.2473T>G) c.3871T>G (p.Ser1291Ala) c.3853T>G (p.Ser1285Ala)
22	g.50721708C>A	CA515263266	SHANK3	c.3476C>A (p.Ser1159Tyr) n.4060C>A c.2528C>A (p.Ser843Tyr) c.2018C>A (p.Ser673Tyr) c.2474C>A (n.2474C>A) c.3872C>A (p.Ser1291Tyr) c.3854C>A (p.Ser1285Tyr)
22	g.50721708C>G	CA515263264	SHANK3	c.3476C>G (p.Ser1159Cys) n.4060C>G c.2528C>G (p.Ser843Cys) c.2018C>G (p.Ser673Cys) c.2474C>G (n.2474C>G) c.3872C>G (p.Ser1291Cys) c.3854C>G (p.Ser1285Cys)
22	g.50721708C>T	CA515263265	SHANK3	c.3476C>T (p.Ser1159Phe) n.4060C>T c.2528C>T (p.Ser843Phe) c.2018C>T (p.Ser673Phe) c.2474C>T (n.2474C>T) c.3872C>T (p.Ser1291Phe) c.3854C>T (p.Ser1285Phe)	gnomAD v4
22	g.50721709C>A	CA515263267	SHANK3	c.3477C>A (p.Ser1159=) n.4061C>A c.2529C>A (p.Ser843=) c.2019C>A (p.Ser673=) c.2475C>A (n.2475C>A) c.3873C>A (p.Ser1291=) c.3855C>A (p.Ser1285=)	gnomAD v4
22	g.50721709C=	CA2411008410	SHANK3	c.3477C= (p.Ser1159=) n.4061C= c.2529C= (p.Ser843=) c.2019C= (p.Ser673=) c.2475C= (n.2475C=) c.3873C= (p.Ser1291=) c.3855C= (p.Ser1285=)
22	g.50721709C>G	CA515263268	SHANK3	c.3477C>G (p.Ser1159=) n.4061C>G c.2529C>G (p.Ser843=) c.2019C>G (p.Ser673=) c.2475C>G (n.2475C>G) c.3873C>G (p.Ser1291=) c.3855C>G (p.Ser1285=)
22	g.50721709C>T	CA10326165	SHANK3	c.3477C>T (p.Ser1159=) n.4061C>T c.2529C>T (p.Ser843=) c.2019C>T (p.Ser673=) c.2475C>T (n.2475C>T) c.3873C>T (p.Ser1291=) c.3855C>T (p.Ser1285=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721710A>C	CA515263269	SHANK3	c.3478A>C (p.Ser1160Arg) n.4062A>C c.2530A>C (p.Ser844Arg) c.2020A>C (p.Ser674Arg) c.2476A>C (n.2476A>C) c.3874A>C (p.Ser1292Arg) c.3856A>C (p.Ser1286Arg)
22	g.50721710A>G	CA515263270	SHANK3	c.3478A>G (p.Ser1160Gly) n.4062A>G c.2530A>G (p.Ser844Gly) c.2020A>G (p.Ser674Gly) c.2476A>G (n.2476A>G) c.3874A>G (p.Ser1292Gly) c.3856A>G (p.Ser1286Gly)
22	g.50721710A>T	CA515263271	SHANK3	c.3478A>T (p.Ser1160Cys) n.4062A>T c.2530A>T (p.Ser844Cys) c.2020A>T (p.Ser674Cys) c.2476A>T (n.2476A>T) c.3874A>T (p.Ser1292Cys) c.3856A>T (p.Ser1286Cys)
22	g.50721711G>A	CA515263274	SHANK3	c.3479G>A (p.Ser1160Asn) n.4063G>A c.2531G>A (p.Ser844Asn) c.2021G>A (p.Ser674Asn) c.2477G>A (n.2477G>A) c.3875G>A (p.Ser1292Asn) c.3857G>A (p.Ser1286Asn)
22	g.50721711G>C	CA515263273	SHANK3	c.3479G>C (p.Ser1160Thr) n.4063G>C c.2531G>C (p.Ser844Thr) c.2021G>C (p.Ser674Thr) c.2477G>C (n.2477G>C) c.3875G>C (p.Ser1292Thr) c.3857G>C (p.Ser1286Thr)
22	g.50721711G>T	CA515263272	SHANK3	c.3479G>T (p.Ser1160Ile) n.4063G>T c.2531G>T (p.Ser844Ile) c.2021G>T (p.Ser674Ile) c.2477G>T (n.2477G>T) c.3875G>T (p.Ser1292Ile) c.3857G>T (p.Ser1286Ile)	gnomAD v4
22	g.50721712C>A	CA515263275	SHANK3	c.3480C>A (p.Ser1160Arg) n.4064C>A c.2532C>A (p.Ser844Arg) c.2022C>A (p.Ser674Arg) c.2478C>A (n.2478C>A) c.3876C>A (p.Ser1292Arg) c.3858C>A (p.Ser1286Arg)
22	g.50721712C=	CA2411008411	SHANK3	c.3480C= (p.Ser1160=) n.4064C= c.2532C= (p.Ser844=) c.2022C= (p.Ser674=) c.2478C= (n.2478C=) c.3876C= (p.Ser1292=) c.3858C= (p.Ser1286=)
22	g.50721712C>G	CA515263276	SHANK3	c.3480C>G (p.Ser1160Arg) n.4064C>G c.2532C>G (p.Ser844Arg) c.2022C>G (p.Ser674Arg) c.2478C>G (n.2478C>G) c.3876C>G (p.Ser1292Arg) c.3858C>G (p.Ser1286Arg)
22	g.50721712C>T	CA10326166	SHANK3	c.3480C>T (p.Ser1160=) n.4064C>T c.2532C>T (p.Ser844=) c.2022C>T (p.Ser674=) c.2478C>T (n.2478C>T) c.3876C>T (p.Ser1292=) c.3858C>T (p.Ser1286=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721713G>A	CA515263277	SHANK3	c.3481G>A (p.Asp1161Asn) n.4065G>A c.2533G>A (p.Asp845Asn) c.2023G>A (p.Asp675Asn) c.2479G>A (n.2479G>A) c.3877G>A (p.Asp1293Asn) c.3859G>A (p.Asp1287Asn)	dbSNP gnomAD v2
22	g.50721713G>C	CA515263278	SHANK3	c.3481G>C (p.Asp1161His) n.4065G>C c.2533G>C (p.Asp845His) c.2023G>C (p.Asp675His) c.2479G>C (n.2479G>C) c.3877G>C (p.Asp1293His) c.3859G>C (p.Asp1287His)	ClinVar
22	g.50721713G=	CA2411008412	SHANK3	c.3481G= (p.Asp1161=) n.4065G= c.2533G= (p.Asp845=) c.2023G= (p.Asp675=) c.2479G= (n.2479G=) c.3877G= (p.Asp1293=) c.3859G= (p.Asp1287=)
22	g.50721713G>T	CA515263279	SHANK3	c.3481G>T (p.Asp1161Tyr) n.4065G>T c.2533G>T (p.Asp845Tyr) c.2023G>T (p.Asp675Tyr) c.2479G>T (n.2479G>T) c.3877G>T (p.Asp1293Tyr) c.3859G>T (p.Asp1287Tyr)
22	g.50721714A>C	CA515263280	SHANK3	c.3482A>C (p.Asp1161Ala) n.4066A>C c.2534A>C (p.Asp845Ala) c.2024A>C (p.Asp675Ala) c.2480A>C (n.2480A>C) c.3878A>C (p.Asp1293Ala) c.3860A>C (p.Asp1287Ala)
22	g.50721714A>G	CA515263282	SHANK3	c.3482A>G (p.Asp1161Gly) n.4066A>G c.2534A>G (p.Asp845Gly) c.2024A>G (p.Asp675Gly) c.2480A>G (n.2480A>G) c.3878A>G (p.Asp1293Gly) c.3860A>G (p.Asp1287Gly)
22	g.50721714A>T	CA515263281	SHANK3	c.3482A>T (p.Asp1161Val) n.4066A>T c.2534A>T (p.Asp845Val) c.2024A>T (p.Asp675Val) c.2480A>T (n.2480A>T) c.3878A>T (p.Asp1293Val) c.3860A>T (p.Asp1287Val)
22	g.50721715T>A	CA515263283	SHANK3	c.3483T>A (p.Asp1161Glu) n.4067T>A c.2535T>A (p.Asp845Glu) c.2025T>A (p.Asp675Glu) c.2481T>A (n.2481T>A) c.3879T>A (p.Asp1293Glu) c.3861T>A (p.Asp1287Glu)
22	g.50721715T>C	CA515263284	SHANK3	c.3483T>C (p.Asp1161=) n.4067T>C c.2535T>C (p.Asp845=) c.2025T>C (p.Asp675=) c.2481T>C (n.2481T>C) c.3879T>C (p.Asp1293=) c.3861T>C (p.Asp1287=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721715T>G	CA515263285	SHANK3	c.3483T>G (p.Asp1161Glu) n.4067T>G c.2535T>G (p.Asp845Glu) c.2025T>G (p.Asp675Glu) c.2481T>G (n.2481T>G) c.3879T>G (p.Asp1293Glu) c.3861T>G (p.Asp1287Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721715T=	CA2411008415	SHANK3	c.3483T= (p.Asp1161=) n.4067T= c.2535T= (p.Asp845=) c.2025T= (p.Asp675=) c.2481T= (n.2481T=) c.3879T= (p.Asp1293=) c.3861T= (p.Asp1287=)
22	g.50721715_50721716delinsTG	CA2411008414	SHANK3	c.3483_3484delinsTG (p.Asp1161=) n.4067_4068delinsTG c.2535_2536delinsTG (p.Asp845=) c.2025_2026delinsTG (p.Asp675=) c.2481_2482delinsTG (n.2481_2482delinsTG) c.3879_3880delinsTG (p.Asp1293=) c.3861_3862delinsTG (p.Asp1287=)
22	g.50721715_50721718delinsTGAG	CA2411008413	SHANK3	c.3483_3486delinsTGAG (p.Asp1161=) n.4067_4070delinsTGAG c.2535_2538delinsTGAG (p.Asp845=) c.2025_2028delinsTGAG (p.Asp675=) c.2481_2484delinsTGAG (n.2481_2484delinsTGAG) c.3879_3882delinsTGAG (p.Asp1293=) c.3861_3864delinsTGAG (p.Asp1287=)
22	g.50721716del	CA16616763	SHANK3	c.3484del (p.Glu1162ArgfsTer?) n.4068del c.2536del (p.Glu846ArgfsTer?) c.2026del (p.Glu676ArgfsTer?) c.2482del (n.2482del) c.3880del (p.Glu1294ArgfsTer?) c.3862del (p.Glu1288ArgfsTer?)	ClinVar dbSNP
22	g.50721716G>A	CA515263286	SHANK3	c.3484G>A (p.Glu1162Lys) n.4068G>A c.2536G>A (p.Glu846Lys) c.2026G>A (p.Glu676Lys) c.2482G>A (n.2482G>A) c.3880G>A (p.Glu1294Lys) c.3862G>A (p.Glu1288Lys)	dbSNP gnomAD v2
22	g.50721716G>C	CA515263287	SHANK3	c.3484G>C (p.Glu1162Gln) n.4068G>C c.2536G>C (p.Glu846Gln) c.2026G>C (p.Glu676Gln) c.2482G>C (n.2482G>C) c.3880G>C (p.Glu1294Gln) c.3862G>C (p.Glu1288Gln)
22	g.50721716G=	CA2411008416	SHANK3	c.3484G= (p.Glu1162=) n.4068G= c.2536G= (p.Glu846=) c.2026G= (p.Glu676=) c.2482G= (n.2482G=) c.3880G= (p.Glu1294=) c.3862G= (p.Glu1288=)
22	g.50721716G>T	CA515263288	SHANK3	c.3484G>T (p.Glu1162Ter) n.4068G>T c.2536G>T (p.Glu846Ter) c.2026G>T (p.Glu676Ter) c.2482G>T (n.2482G>T) c.3880G>T (p.Glu1294Ter) c.3862G>T (p.Glu1288Ter)
22	g.50721719_50721721del	CA640359040	SHANK3	c.3487_3489del (p.Glu1163del) n.4071_4073del c.2539_2541del (p.Glu847del) c.2029_2031del (p.Glu677del) c.2485_2487del (n.2485_2487del) c.3883_3885del (p.Glu1295del) c.3865_3867del (p.Glu1289del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721717A>C	CA515263289	SHANK3	c.3485A>C (p.Glu1162Ala) n.4069A>C c.2537A>C (p.Glu846Ala) c.2027A>C (p.Glu676Ala) c.2483A>C (n.2483A>C) c.3881A>C (p.Glu1294Ala) c.3863A>C (p.Glu1288Ala)
22	g.50721717A>G	CA515263290	SHANK3	c.3485A>G (p.Glu1162Gly) n.4069A>G c.2537A>G (p.Glu846Gly) c.2027A>G (p.Glu676Gly) c.2483A>G (n.2483A>G) c.3881A>G (p.Glu1294Gly) c.3863A>G (p.Glu1288Gly)
22	g.50721717A>T	CA515263291	SHANK3	c.3485A>T (p.Glu1162Val) n.4069A>T c.2537A>T (p.Glu846Val) c.2027A>T (p.Glu676Val) c.2483A>T (n.2483A>T) c.3881A>T (p.Glu1294Val) c.3863A>T (p.Glu1288Val)
22	g.50721718G>A	CA10326167	SHANK3	c.3486G>A (p.Glu1162=) n.4070G>A c.2538G>A (p.Glu846=) c.2028G>A (p.Glu676=) c.2484G>A (n.2484G>A) c.3882G>A (p.Glu1294=) c.3864G>A (p.Glu1288=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721718G>C	CA515263292	SHANK3	c.3486G>C (p.Glu1162Asp) n.4070G>C c.2538G>C (p.Glu846Asp) c.2028G>C (p.Glu676Asp) c.2484G>C (n.2484G>C) c.3882G>C (p.Glu1294Asp) c.3864G>C (p.Glu1288Asp)
22	g.50721718G=	CA2411008417	SHANK3	c.3486G= (p.Glu1162=) n.4070G= c.2538G= (p.Glu846=) c.2028G= (p.Glu676=) c.2484G= (n.2484G=) c.3882G= (p.Glu1294=) c.3864G= (p.Glu1288=)
22	g.50721718G>T	CA515263293	SHANK3	c.3486G>T (p.Glu1162Asp) n.4070G>T c.2538G>T (p.Glu846Asp) c.2028G>T (p.Glu676Asp) c.2484G>T (n.2484G>T) c.3882G>T (p.Glu1294Asp) c.3864G>T (p.Glu1288Asp)
22	g.50721719G>A	CA10326168	SHANK3	c.3487G>A (p.Glu1163Lys) n.4071G>A c.2539G>A (p.Glu847Lys) c.2029G>A (p.Glu677Lys) c.2485G>A (n.2485G>A) c.3883G>A (p.Glu1295Lys) c.3865G>A (p.Glu1289Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721719G>C	CA515263295	SHANK3	c.3487G>C (p.Glu1163Gln) n.4071G>C c.2539G>C (p.Glu847Gln) c.2029G>C (p.Glu677Gln) c.2485G>C (n.2485G>C) c.3883G>C (p.Glu1295Gln) c.3865G>C (p.Glu1289Gln)
22	g.50721719G=	CA2411008418	SHANK3	c.3487G= (p.Glu1163=) n.4071G= c.2539G= (p.Glu847=) c.2029G= (p.Glu677=) c.2485G= (n.2485G=) c.3883G= (p.Glu1295=) c.3865G= (p.Glu1289=)
22	g.50721719G>T	CA515263294	SHANK3	c.3487G>T (p.Glu1163Ter) n.4071G>T c.2539G>T (p.Glu847Ter) c.2029G>T (p.Glu677Ter) c.2485G>T (n.2485G>T) c.3883G>T (p.Glu1295Ter) c.3865G>T (p.Glu1289Ter)
22	g.50721720A>C	CA515263296	SHANK3	c.3488A>C (p.Glu1163Ala) n.4072A>C c.2540A>C (p.Glu847Ala) c.2030A>C (p.Glu677Ala) c.2486A>C (n.2486A>C) c.3884A>C (p.Glu1295Ala) c.3866A>C (p.Glu1289Ala)
22	g.50721720A>G	CA515263297	SHANK3	c.3488A>G (p.Glu1163Gly) n.4072A>G c.2540A>G (p.Glu847Gly) c.2030A>G (p.Glu677Gly) c.2486A>G (n.2486A>G) c.3884A>G (p.Glu1295Gly) c.3866A>G (p.Glu1289Gly)	gnomAD v4
22	g.50721720A>T	CA515263298	SHANK3	c.3488A>T (p.Glu1163Val) n.4072A>T c.2540A>T (p.Glu847Val) c.2030A>T (p.Glu677Val) c.2486A>T (n.2486A>T) c.3884A>T (p.Glu1295Val) c.3866A>T (p.Glu1289Val)
22	g.50721721G>A	CA515263299	SHANK3	c.3489G>A (p.Glu1163=) n.4073G>A c.2541G>A (p.Glu847=) c.2031G>A (p.Glu677=) c.2487G>A (n.2487G>A) c.3885G>A (p.Glu1295=) c.3867G>A (p.Glu1289=)	dbSNP gnomAD v2
22	g.50721721G>C	CA515263300	SHANK3	c.3489G>C (p.Glu1163Asp) n.4073G>C c.2541G>C (p.Glu847Asp) c.2031G>C (p.Glu677Asp) c.2487G>C (n.2487G>C) c.3885G>C (p.Glu1295Asp) c.3867G>C (p.Glu1289Asp)
22	g.50721721G=	CA2411008419	SHANK3	c.3489G= (p.Glu1163=) n.4073G= c.2541G= (p.Glu847=) c.2031G= (p.Glu677=) c.2487G= (n.2487G=) c.3885G= (p.Glu1295=) c.3867G= (p.Glu1289=)
22	g.50721721G>T	CA515263301	SHANK3	c.3489G>T (p.Glu1163Asp) n.4073G>T c.2541G>T (p.Glu847Asp) c.2031G>T (p.Glu677Asp) c.2487G>T (n.2487G>T) c.3885G>T (p.Glu1295Asp) c.3867G>T (p.Glu1289Asp)
22	g.50721722A>C	CA515263302	SHANK3	c.3490A>C (p.Thr1164Pro) n.4074A>C c.2542A>C (p.Thr848Pro) c.2032A>C (p.Thr678Pro) c.2488A>C (n.2488A>C) c.3886A>C (p.Thr1296Pro) c.3868A>C (p.Thr1290Pro)
22	g.50721722A>G	CA515263303	SHANK3	c.3490A>G (p.Thr1164Ala) n.4074A>G c.2542A>G (p.Thr848Ala) c.2032A>G (p.Thr678Ala) c.2488A>G (n.2488A>G) c.3886A>G (p.Thr1296Ala) c.3868A>G (p.Thr1290Ala)
22	g.50721722A>T	CA515263304	SHANK3	c.3490A>T (p.Thr1164Ser) n.4074A>T c.2542A>T (p.Thr848Ser) c.2032A>T (p.Thr678Ser) c.2488A>T (n.2488A>T) c.3886A>T (p.Thr1296Ser) c.3868A>T (p.Thr1290Ser)
22	g.50721723C>A	CA515263305	SHANK3	c.3491C>A (p.Thr1164Asn) n.4075C>A c.2543C>A (p.Thr848Asn) c.2033C>A (p.Thr678Asn) c.2489C>A (n.2489C>A) c.3887C>A (p.Thr1296Asn) c.3869C>A (p.Thr1290Asn)
22	g.50721723C>G	CA515263306	SHANK3	c.3491C>G (p.Thr1164Ser) n.4075C>G c.2543C>G (p.Thr848Ser) c.2033C>G (p.Thr678Ser) c.2489C>G (n.2489C>G) c.3887C>G (p.Thr1296Ser) c.3869C>G (p.Thr1290Ser)	gnomAD v4
22	g.50721723C>T	CA515263307	SHANK3	c.3491C>T (p.Thr1164Ile) n.4075C>T c.2543C>T (p.Thr848Ile) c.2033C>T (p.Thr678Ile) c.2489C>T (n.2489C>T) c.3887C>T (p.Thr1296Ile) c.3869C>T (p.Thr1290Ile)
22	g.50721724C>A	CA515263309	SHANK3	c.3492C>A (p.Thr1164=) n.4076C>A c.2544C>A (p.Thr848=) c.2034C>A (p.Thr678=) c.2490C>A (n.2490C>A) c.3888C>A (p.Thr1296=) c.3870C>A (p.Thr1290=)
22	g.50721724C=	CA2411008420	SHANK3	c.3492C= (p.Thr1164=) n.4076C= c.2544C= (p.Thr848=) c.2034C= (p.Thr678=) c.2490C= (n.2490C=) c.3888C= (p.Thr1296=) c.3870C= (p.Thr1290=)
22	g.50721724C>G	CA515263308	SHANK3	c.3492C>G (p.Thr1164=) n.4076C>G c.2544C>G (p.Thr848=) c.2034C>G (p.Thr678=) c.2490C>G (n.2490C>G) c.3888C>G (p.Thr1296=) c.3870C>G (p.Thr1290=)
22	g.50721724C>T	CA10326169	SHANK3	c.3492C>T (p.Thr1164=) n.4076C>T c.2544C>T (p.Thr848=) c.2034C>T (p.Thr678=) c.2490C>T (n.2490C>T) c.3888C>T (p.Thr1296=) c.3870C>T (p.Thr1290=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22	g.50721725A>C	CA515263310	SHANK3	c.3493A>C (p.Arg1165=) n.4077A>C c.2545A>C (p.Arg849=) c.2035A>C (p.Arg679=) c.2491A>C (n.2491A>C) c.3889A>C (p.Arg1297=) c.3871A>C (p.Arg1291=)
22	g.50721725A>G	CA515263311	SHANK3	c.3493A>G (p.Arg1165Gly) n.4077A>G c.2545A>G (p.Arg849Gly) c.2035A>G (p.Arg679Gly) c.2491A>G (n.2491A>G) c.3889A>G (p.Arg1297Gly) c.3871A>G (p.Arg1291Gly)	COSMIC COSMIC
22	g.50721725A>T	CA515263312	SHANK3	c.3493A>T (p.Arg1165Trp) n.4077A>T c.2545A>T (p.Arg849Trp) c.2035A>T (p.Arg679Trp) c.2491A>T (n.2491A>T) c.3889A>T (p.Arg1297Trp) c.3871A>T (p.Arg1291Trp)
22	g.50721726G>A	CA10326170	SHANK3	c.3494G>A (p.Arg1165Lys) n.4078G>A c.2546G>A (p.Arg849Lys) c.2036G>A (p.Arg679Lys) c.2492G>A (n.2492G>A) c.3890G>A (p.Arg1297Lys) c.3872G>A (p.Arg1291Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721726G>C	CA515263313	SHANK3	c.3494G>C (p.Arg1165Thr) n.4078G>C c.2546G>C (p.Arg849Thr) c.2036G>C (p.Arg679Thr) c.2492G>C (n.2492G>C) c.3890G>C (p.Arg1297Thr) c.3872G>C (p.Arg1291Thr)
22	g.50721726G=	CA2411008421	SHANK3	c.3494G= (p.Arg1165=) n.4078G= c.2546G= (p.Arg849=) c.2036G= (p.Arg679=) c.2492G= (n.2492G=) c.3890G= (p.Arg1297=) c.3872G= (p.Arg1291=)
22	g.50721726G>T	CA515263314	SHANK3	c.3494G>T (p.Arg1165Met) n.4078G>T c.2546G>T (p.Arg849Met) c.2036G>T (p.Arg679Met) c.2492G>T (n.2492G>T) c.3890G>T (p.Arg1297Met) c.3872G>T (p.Arg1291Met)
22	g.50721727G>A	CA515263315	SHANK3	c.3495G>A (p.Arg1165=) n.4079G>A c.2547G>A (p.Arg849=) c.2037G>A (p.Arg679=) c.2493G>A (n.2493G>A) c.3891G>A (p.Arg1297=) c.3873G>A (p.Arg1291=)
22	g.50721727G>C	CA515263316	SHANK3	c.3495G>C (p.Arg1165Ser) n.4079G>C c.2547G>C (p.Arg849Ser) c.2037G>C (p.Arg679Ser) c.2493G>C (n.2493G>C) c.3891G>C (p.Arg1297Ser) c.3873G>C (p.Arg1291Ser)
22	g.50721727G>T	CA515263317	SHANK3	c.3495G>T (p.Arg1165Ser) n.4079G>T c.2547G>T (p.Arg849Ser) c.2037G>T (p.Arg679Ser) c.2493G>T (n.2493G>T) c.3891G>T (p.Arg1297Ser) c.3873G>T (p.Arg1291Ser)
22	g.50721728G>A	CA515263318	SHANK3	c.3496G>A (p.Glu1166Lys) n.4080G>A c.2548G>A (p.Glu850Lys) c.2038G>A (p.Glu680Lys) c.2494G>A (n.2494G>A) c.3892G>A (p.Glu1298Lys) c.3874G>A (p.Glu1292Lys)
22	g.50721728G>C	CA515263319	SHANK3	c.3496G>C (p.Glu1166Gln) n.4080G>C c.2548G>C (p.Glu850Gln) c.2038G>C (p.Glu680Gln) c.2494G>C (n.2494G>C) c.3892G>C (p.Glu1298Gln) c.3874G>C (p.Glu1292Gln)
22	g.50721728G>T	CA515263320	SHANK3	c.3496G>T (p.Glu1166Ter) n.4080G>T c.2548G>T (p.Glu850Ter) c.2038G>T (p.Glu680Ter) c.2494G>T (n.2494G>T) c.3892G>T (p.Glu1298Ter) c.3874G>T (p.Glu1292Ter)	gnomAD v4
22	g.50721729A>C	CA515263321	SHANK3	c.3497A>C (p.Glu1166Ala) n.4081A>C c.2549A>C (p.Glu850Ala) c.2039A>C (p.Glu680Ala) c.2495A>C (n.2495A>C) c.3893A>C (p.Glu1298Ala) c.3875A>C (p.Glu1292Ala)	gnomAD v4
22	g.50721729A>G	CA515263323	SHANK3	c.3497A>G (p.Glu1166Gly) n.4081A>G c.2549A>G (p.Glu850Gly) c.2039A>G (p.Glu680Gly) c.2495A>G (n.2495A>G) c.3893A>G (p.Glu1298Gly) c.3875A>G (p.Glu1292Gly)
22	g.50721729A>T	CA515263322	SHANK3	c.3497A>T (p.Glu1166Val) n.4081A>T c.2549A>T (p.Glu850Val) c.2039A>T (p.Glu680Val) c.2495A>T (n.2495A>T) c.3893A>T (p.Glu1298Val) c.3875A>T (p.Glu1292Val)
22	g.50721730G>A	CA515263324	SHANK3	c.3498G>A (p.Glu1166=) n.4082G>A c.2550G>A (p.Glu850=) c.2040G>A (p.Glu680=) c.2496G>A (n.2496G>A) c.3894G>A (p.Glu1298=) c.3876G>A (p.Glu1292=)
22	g.50721730G>C	CA515263326	SHANK3	c.3498G>C (p.Glu1166Asp) n.4082G>C c.2550G>C (p.Glu850Asp) c.2040G>C (p.Glu680Asp) c.2496G>C (n.2496G>C) c.3894G>C (p.Glu1298Asp) c.3876G>C (p.Glu1292Asp)
22	g.50721730G>T	CA515263325	SHANK3	c.3498G>T (p.Glu1166Asp) n.4082G>T c.2550G>T (p.Glu850Asp) c.2040G>T (p.Glu680Asp) c.2496G>T (n.2496G>T) c.3894G>T (p.Glu1298Asp) c.3876G>T (p.Glu1292Asp)
22	g.50721731G>A	CA515263327	SHANK3	c.3499G>A (p.Glu1167Lys) n.4083G>A c.2551G>A (p.Glu851Lys) c.2041G>A (p.Glu681Lys) c.2497G>A (n.2497G>A) c.3895G>A (p.Glu1299Lys) c.3877G>A (p.Glu1293Lys)	dbSNP gnomAD v3 gnomAD v4
22	g.50721731G>C	CA515263329	SHANK3	c.3499G>C (p.Glu1167Gln) n.4083G>C c.2551G>C (p.Glu851Gln) c.2041G>C (p.Glu681Gln) c.2497G>C (n.2497G>C) c.3895G>C (p.Glu1299Gln) c.3877G>C (p.Glu1293Gln)
22	g.50721731G=	CA2411008422	SHANK3	c.3499G= (p.Glu1167=) n.4083G= c.2551G= (p.Glu851=) c.2041G= (p.Glu681=) c.2497G= (n.2497G=) c.3895G= (p.Glu1299=) c.3877G= (p.Glu1293=)
22	g.50721731G>T	CA515263328	SHANK3	c.3499G>T (p.Glu1167Ter) n.4083G>T c.2551G>T (p.Glu851Ter) c.2041G>T (p.Glu681Ter) c.2497G>T (n.2497G>T) c.3895G>T (p.Glu1299Ter) c.3877G>T (p.Glu1293Ter)
22	g.50721732A>C	CA515263330	SHANK3	c.3500A>C (p.Glu1167Ala) n.4084A>C c.2552A>C (p.Glu851Ala) c.2042A>C (p.Glu681Ala) c.2498A>C (n.2498A>C) c.3896A>C (p.Glu1299Ala) c.3878A>C (p.Glu1293Ala)
22	g.50721732A>G	CA515263332	SHANK3	c.3500A>G (p.Glu1167Gly) n.4084A>G c.2552A>G (p.Glu851Gly) c.2042A>G (p.Glu681Gly) c.2498A>G (n.2498A>G) c.3896A>G (p.Glu1299Gly) c.3878A>G (p.Glu1293Gly)	gnomAD v4
22	g.50721732A>T	CA515263331	SHANK3	c.3500A>T (p.Glu1167Val) n.4084A>T c.2552A>T (p.Glu851Val) c.2042A>T (p.Glu681Val) c.2498A>T (n.2498A>T) c.3896A>T (p.Glu1299Val) c.3878A>T (p.Glu1293Val)
22	g.50721733G>A	CA515263333	SHANK3	c.3501G>A (p.Glu1167=) n.4085G>A c.2553G>A (p.Glu851=) c.2043G>A (p.Glu681=) c.2499G>A (n.2499G>A) c.3897G>A (p.Glu1299=) c.3879G>A (p.Glu1293=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721733G>C	CA515263334	SHANK3	c.3501G>C (p.Glu1167Asp) n.4085G>C c.2553G>C (p.Glu851Asp) c.2043G>C (p.Glu681Asp) c.2499G>C (n.2499G>C) c.3897G>C (p.Glu1299Asp) c.3879G>C (p.Glu1293Asp)	gnomAD v4
22	g.50721733G=	CA2411008423	SHANK3	c.3501G= (p.Glu1167=) n.4085G= c.2553G= (p.Glu851=) c.2043G= (p.Glu681=) c.2499G= (n.2499G=) c.3897G= (p.Glu1299=) c.3879G= (p.Glu1293=)
22	g.50721733G>T	CA515263335	SHANK3	c.3501G>T (p.Glu1167Asp) n.4085G>T c.2553G>T (p.Glu851Asp) c.2043G>T (p.Glu681Asp) c.2499G>T (n.2499G>T) c.3897G>T (p.Glu1299Asp) c.3879G>T (p.Glu1293Asp)
22	g.50721734C>A	CA515263336	SHANK3	c.3502C>A (p.Leu1168Met) n.4086C>A c.2554C>A (p.Leu852Met) c.2044C>A (p.Leu682Met) c.2500C>A (n.2500C>A) c.3898C>A (p.Leu1300Met) c.3880C>A (p.Leu1294Met)
22	g.50721734C=	CA2411008424	SHANK3	c.3502C= (p.Leu1168=) n.4086C= c.2554C= (p.Leu852=) c.2044C= (p.Leu682=) c.2500C= (n.2500C=) c.3898C= (p.Leu1300=) c.3880C= (p.Leu1294=)
22	g.50721734C>G	CA515263337	SHANK3	c.3502C>G (p.Leu1168Val) n.4086C>G c.2554C>G (p.Leu852Val) c.2044C>G (p.Leu682Val) c.2500C>G (n.2500C>G) c.3898C>G (p.Leu1300Val) c.3880C>G (p.Leu1294Val)
22	g.50721734C>T	CA515263338	SHANK3	c.3502C>T (p.Leu1168=) n.4086C>T c.2554C>T (p.Leu852=) c.2044C>T (p.Leu682=) c.2500C>T (n.2500C>T) c.3898C>T (p.Leu1300=) c.3880C>T (p.Leu1294=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721735T>A	CA515263339	SHANK3	c.3503T>A (p.Leu1168Gln) n.4087T>A c.2555T>A (p.Leu852Gln) c.2045T>A (p.Leu682Gln) c.2501T>A (n.2501T>A) c.3899T>A (p.Leu1300Gln) c.3881T>A (p.Leu1294Gln)
22	g.50721735T>C	CA515263340	SHANK3	c.3503T>C (p.Leu1168Pro) n.4087T>C c.2555T>C (p.Leu852Pro) c.2045T>C (p.Leu682Pro) c.2501T>C (n.2501T>C) c.3899T>C (p.Leu1300Pro) c.3881T>C (p.Leu1294Pro)
22	g.50721735T>G	CA515263341	SHANK3	c.3503T>G (p.Leu1168Arg) n.4087T>G c.2555T>G (p.Leu852Arg) c.2045T>G (p.Leu682Arg) c.2501T>G (n.2501T>G) c.3899T>G (p.Leu1300Arg) c.3881T>G (p.Leu1294Arg)
22	g.50721736G>A	CA515263342	SHANK3	c.3504G>A (p.Leu1168=) n.4088G>A c.2556G>A (p.Leu852=) c.2046G>A (p.Leu682=) c.2502G>A (n.2502G>A) c.3900G>A (p.Leu1300=) c.3882G>A (p.Leu1294=)	dbSNP gnomAD v4
22	g.50721736G>C	CA515263343	SHANK3	c.3504G>C (p.Leu1168=) n.4088G>C c.2556G>C (p.Leu852=) c.2046G>C (p.Leu682=) c.2502G>C (n.2502G>C) c.3900G>C (p.Leu1300=) c.3882G>C (p.Leu1294=)
22	g.50721736G=	CA2411008425	SHANK3	c.3504G= (p.Leu1168=) n.4088G= c.2556G= (p.Leu852=) c.2046G= (p.Leu682=) c.2502G= (n.2502G=) c.3900G= (p.Leu1300=) c.3882G= (p.Leu1294=)
22	g.50721736G>T	CA515263344	SHANK3	c.3504G>T (p.Leu1168=) n.4088G>T c.2556G>T (p.Leu852=) c.2046G>T (p.Leu682=) c.2502G>T (n.2502G>T) c.3900G>T (p.Leu1300=) c.3882G>T (p.Leu1294=)	gnomAD v4

Number of alleles fetched