Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50720677_50720684dup	CA658799569	SHANK3	c.2445_2452dup (p.Lys818SerfsTer8) n.3029_3036dup c.1497_1504dup (p.Lys502SerfsTer8) c.987_994dup (p.Lys332SerfsTer8) c.1443_1450dup (n.1443_1450dup) c.2841_2848dup (p.Lys950SerfsTer8) c.2823_2830dup (p.Lys944SerfsTer8)	ClinVar dbSNP
22	g.50720679_50720752del	CA2657583379	SHANK3	c.2447_2520del (p.Arg816ProfsTer?) n.3031_3104del c.1499_1572del (p.Arg500ProfsTer?) c.989_1062del (p.Arg330ProfsTer?) c.1445_1518del (n.1445_1518del) c.2843_2916del (p.Arg948ProfsTer?) c.2825_2898del (p.Arg942ProfsTer?)	gnomAD v4
22	g.50720677G>A	CA515259972	SHANK3	c.2445G>A (p.Gln815=) n.3029G>A c.1497G>A (p.Gln499=) c.987G>A (p.Gln329=) c.1443G>A (n.1443G>A) c.2841G>A (p.Gln947=) c.2823G>A (p.Gln941=)	gnomAD v4
22	g.50720677G>C	CA515259973	SHANK3	c.2445G>C (p.Gln815His) n.3029G>C c.1497G>C (p.Gln499His) c.987G>C (p.Gln329His) c.1443G>C (n.1443G>C) c.2841G>C (p.Gln947His) c.2823G>C (p.Gln941His)	gnomAD v4
22	g.50720677G>T	CA515259974	SHANK3	c.2445G>T (p.Gln815His) n.3029G>T c.1497G>T (p.Gln499His) c.987G>T (p.Gln329His) c.1443G>T (n.1443G>T) c.2841G>T (p.Gln947His) c.2823G>T (p.Gln941His)	gnomAD v4
22	g.50720678C>A	CA515259975	SHANK3	c.2446C>A (p.Arg816Ser) n.3030C>A c.1498C>A (p.Arg500Ser) c.988C>A (p.Arg330Ser) c.1444C>A (n.1444C>A) c.2842C>A (p.Arg948Ser) c.2824C>A (p.Arg942Ser)	gnomAD v4
22	g.50720678C>G	CA515259976	SHANK3	c.2446C>G (p.Arg816Gly) n.3030C>G c.1498C>G (p.Arg500Gly) c.988C>G (p.Arg330Gly) c.1444C>G (n.1444C>G) c.2842C>G (p.Arg948Gly) c.2824C>G (p.Arg942Gly)	gnomAD v4
22	g.50720678C>T	CA515259977	SHANK3	c.2446C>T (p.Arg816Cys) n.3030C>T c.1498C>T (p.Arg500Cys) c.988C>T (p.Arg330Cys) c.1444C>T (n.1444C>T) c.2842C>T (p.Arg948Cys) c.2824C>T (p.Arg942Cys)	gnomAD v4
22	g.50720679G>A	CA515259980	SHANK3	c.2447G>A (p.Arg816His) n.3031G>A c.1499G>A (p.Arg500His) c.989G>A (p.Arg330His) c.1445G>A (n.1445G>A) c.2843G>A (p.Arg948His) c.2825G>A (p.Arg942His)	gnomAD v4
22	g.50720679G>C	CA515259979	SHANK3	c.2447G>C (p.Arg816Pro) n.3031G>C c.1499G>C (p.Arg500Pro) c.989G>C (p.Arg330Pro) c.1445G>C (n.1445G>C) c.2843G>C (p.Arg948Pro) c.2825G>C (p.Arg942Pro)	gnomAD v4
22	g.50720679G>T	CA515259978	SHANK3	c.2447G>T (p.Arg816Leu) n.3031G>T c.1499G>T (p.Arg500Leu) c.989G>T (p.Arg330Leu) c.1445G>T (n.1445G>T) c.2843G>T (p.Arg948Leu) c.2825G>T (p.Arg942Leu)	gnomAD v3 gnomAD v4
22	g.50720680C>A	CA515259981	SHANK3	c.2448C>A (p.Arg816=) n.3032C>A c.1500C>A (p.Arg500=) c.990C>A (p.Arg330=) c.1446C>A (n.1446C>A) c.2844C>A (p.Arg948=) c.2826C>A (p.Arg942=)	gnomAD v4
22	g.50720680C=	CA2411007754	SHANK3	c.2448C= (p.Arg816=) n.3032C= c.1500C= (p.Arg500=) c.990C= (p.Arg330=) c.1446C= (n.1446C=) c.2844C= (p.Arg948=) c.2826C= (p.Arg942=)
22	g.50720680C>G	CA515259982	SHANK3	c.2448C>G (p.Arg816=) n.3032C>G c.1500C>G (p.Arg500=) c.990C>G (p.Arg330=) c.1446C>G (n.1446C>G) c.2844C>G (p.Arg948=) c.2826C>G (p.Arg942=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720680C>T	CA515259983	SHANK3	c.2448C>T (p.Arg816=) n.3032C>T c.1500C>T (p.Arg500=) c.990C>T (p.Arg330=) c.1446C>T (n.1446C>T) c.2844C>T (p.Arg948=) c.2826C>T (p.Arg942=)	gnomAD v4
22	g.50720681C>A	CA515259984	SHANK3	c.2449C>A (p.Arg817Ser) n.3033C>A c.1501C>A (p.Arg501Ser) c.991C>A (p.Arg331Ser) c.1447C>A (n.1447C>A) c.2845C>A (p.Arg949Ser) c.2827C>A (p.Arg943Ser)	gnomAD v4
22	g.50720681C>G	CA515259985	SHANK3	c.2449C>G (p.Arg817Gly) n.3033C>G c.1501C>G (p.Arg501Gly) c.991C>G (p.Arg331Gly) c.1447C>G (n.1447C>G) c.2845C>G (p.Arg949Gly) c.2827C>G (p.Arg943Gly)
22	g.50720681C>T	CA515259986	SHANK3	c.2449C>T (p.Arg817Cys) n.3033C>T c.1501C>T (p.Arg501Cys) c.991C>T (p.Arg331Cys) c.1447C>T (n.1447C>T) c.2845C>T (p.Arg949Cys) c.2827C>T (p.Arg943Cys)	gnomAD v4
22	g.50720682del	CA2657583380	SHANK3	c.2450del (p.Arg817ProfsTer6) n.3034del c.1502del (p.Arg501ProfsTer6) c.992del (p.Arg331ProfsTer6) c.1448del (n.1448del) c.2846del (p.Arg949ProfsTer6) c.2828del (p.Arg943ProfsTer6)	gnomAD v4
22	g.50720682G>A	CA515259987	SHANK3	c.2450G>A (p.Arg817His) n.3034G>A c.1502G>A (p.Arg501His) c.992G>A (p.Arg331His) c.1448G>A (n.1448G>A) c.2846G>A (p.Arg949His) c.2828G>A (p.Arg943His)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50720682G>C	CA515259988	SHANK3	c.2450G>C (p.Arg817Pro) n.3034G>C c.1502G>C (p.Arg501Pro) c.992G>C (p.Arg331Pro) c.1448G>C (n.1448G>C) c.2846G>C (p.Arg949Pro) c.2828G>C (p.Arg943Pro)	gnomAD v4
22	g.50720682G=	CA2411007755	SHANK3	c.2450G= (p.Arg817=) n.3034G= c.1502G= (p.Arg501=) c.992G= (p.Arg331=) c.1448G= (n.1448G=) c.2846G= (p.Arg949=) c.2828G= (p.Arg943=)
22	g.50720682G>T	CA515259989	SHANK3	c.2450G>T (p.Arg817Leu) n.3034G>T c.1502G>T (p.Arg501Leu) c.992G>T (p.Arg331Leu) c.1448G>T (n.1448G>T) c.2846G>T (p.Arg949Leu) c.2828G>T (p.Arg943Leu)	gnomAD v4
22	g.50720683C>A	CA515259990	SHANK3	c.2451C>A (p.Arg817=) n.3035C>A c.1503C>A (p.Arg501=) c.993C>A (p.Arg331=) c.1449C>A (n.1449C>A) c.2847C>A (p.Arg949=) c.2829C>A (p.Arg943=)	gnomAD v4
22	g.50720683C=	CA2411007756	SHANK3	c.2451C= (p.Arg817=) n.3035C= c.1503C= (p.Arg501=) c.993C= (p.Arg331=) c.1449C= (n.1449C=) c.2847C= (p.Arg949=) c.2829C= (p.Arg943=)
22	g.50720683C>G	CA515259991	SHANK3	c.2451C>G (p.Arg817=) n.3035C>G c.1503C>G (p.Arg501=) c.993C>G (p.Arg331=) c.1449C>G (n.1449C>G) c.2847C>G (p.Arg949=) c.2829C>G (p.Arg943=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720683C>T	CA515259992	SHANK3	c.2451C>T (p.Arg817=) n.3035C>T c.1503C>T (p.Arg501=) c.993C>T (p.Arg331=) c.1449C>T (n.1449C>T) c.2847C>T (p.Arg949=) c.2829C>T (p.Arg943=)	gnomAD v4
22	g.50720684A=	CA2411007757	SHANK3	c.2452A= (p.Lys818=) n.3036A= c.1504A= (p.Lys502=) c.994A= (p.Lys332=) c.1450A= (n.1450A=) c.2848A= (p.Lys950=) c.2830A= (p.Lys944=)
22	g.50720684A>C	CA515259995	SHANK3	c.2452A>C (p.Lys818Gln) n.3036A>C c.1504A>C (p.Lys502Gln) c.994A>C (p.Lys332Gln) c.1450A>C (n.1450A>C) c.2848A>C (p.Lys950Gln) c.2830A>C (p.Lys944Gln)	gnomAD v4
22	g.50720684A>G	CA515259994	SHANK3	c.2452A>G (p.Lys818Glu) n.3036A>G c.1504A>G (p.Lys502Glu) c.994A>G (p.Lys332Glu) c.1450A>G (n.1450A>G) c.2848A>G (p.Lys950Glu) c.2830A>G (p.Lys944Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50720684A>T	CA515259993	SHANK3	c.2452A>T (p.Lys818Ter) n.3036A>T c.1504A>T (p.Lys502Ter) c.994A>T (p.Lys332Ter) c.1450A>T (n.1450A>T) c.2848A>T (p.Lys950Ter) c.2830A>T (p.Lys944Ter)	gnomAD v4
22	g.50720685del	CA2657583381	SHANK3	c.2453del (p.Lys818ArgfsTer5) n.3037del c.1505del (p.Lys502ArgfsTer5) c.995del (p.Lys332ArgfsTer5) c.1451del (n.1451del) c.2849del (p.Lys950ArgfsTer5) c.2831del (p.Lys944ArgfsTer5)	gnomAD v4
22	g.50720685A=	CA2411007758	SHANK3	c.2453A= (p.Lys818=) n.3037A= c.1505A= (p.Lys502=) c.995A= (p.Lys332=) c.1451A= (n.1451A=) c.2849A= (p.Lys950=) c.2831A= (p.Lys944=)
22	g.50720685A>C	CA515259996	SHANK3	c.2453A>C (p.Lys818Thr) n.3037A>C c.1505A>C (p.Lys502Thr) c.995A>C (p.Lys332Thr) c.1451A>C (n.1451A>C) c.2849A>C (p.Lys950Thr) c.2831A>C (p.Lys944Thr)	gnomAD v4
22	g.50720685A>G	CA515259997	SHANK3	c.2453A>G (p.Lys818Arg) n.3037A>G c.1505A>G (p.Lys502Arg) c.995A>G (p.Lys332Arg) c.1451A>G (n.1451A>G) c.2849A>G (p.Lys950Arg) c.2831A>G (p.Lys944Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.50720685A>T	CA515259998	SHANK3	c.2453A>T (p.Lys818Met) n.3037A>T c.1505A>T (p.Lys502Met) c.995A>T (p.Lys332Met) c.1451A>T (n.1451A>T) c.2849A>T (p.Lys950Met) c.2831A>T (p.Lys944Met)	gnomAD v4
22	g.50720686G>A	CA515259999	SHANK3	c.2454G>A (p.Lys818=) n.3038G>A c.1506G>A (p.Lys502=) c.996G>A (p.Lys332=) c.1452G>A (n.1452G>A) c.2850G>A (p.Lys950=) c.2832G>A (p.Lys944=)	gnomAD v4
22	g.50720686G>C	CA515260000	SHANK3	c.2454G>C (p.Lys818Asn) n.3038G>C c.1506G>C (p.Lys502Asn) c.996G>C (p.Lys332Asn) c.1452G>C (n.1452G>C) c.2850G>C (p.Lys950Asn) c.2832G>C (p.Lys944Asn)	gnomAD v4
22	g.50720686G>T	CA515260001	SHANK3	c.2454G>T (p.Lys818Asn) n.3038G>T c.1506G>T (p.Lys502Asn) c.996G>T (p.Lys332Asn) c.1452G>T (n.1452G>T) c.2850G>T (p.Lys950Asn) c.2832G>T (p.Lys944Asn)	gnomAD v4
22	g.50720687A>C	CA515260002	SHANK3	c.2455A>C (p.Ser819Arg) n.3039A>C c.1507A>C (p.Ser503Arg) c.997A>C (p.Ser333Arg) c.1453A>C (n.1453A>C) c.2851A>C (p.Ser951Arg) c.2833A>C (p.Ser945Arg)
22	g.50720687A>G	CA515260003	SHANK3	c.2455A>G (p.Ser819Gly) n.3039A>G c.1507A>G (p.Ser503Gly) c.997A>G (p.Ser333Gly) c.1453A>G (n.1453A>G) c.2851A>G (p.Ser951Gly) c.2833A>G (p.Ser945Gly)	gnomAD v4
22	g.50720687A>T	CA515260004	SHANK3	c.2455A>T (p.Ser819Cys) n.3039A>T c.1507A>T (p.Ser503Cys) c.997A>T (p.Ser333Cys) c.1453A>T (n.1453A>T) c.2851A>T (p.Ser951Cys) c.2833A>T (p.Ser945Cys)	gnomAD v4
22	g.50720688G>A	CA515260005	SHANK3	c.2456G>A (p.Ser819Asn) n.3040G>A c.1508G>A (p.Ser503Asn) c.998G>A (p.Ser333Asn) c.1454G>A (n.1454G>A) c.2852G>A (p.Ser951Asn) c.2834G>A (p.Ser945Asn)	dbSNP gnomAD v4
22	g.50720688G>C	CA515260006	SHANK3	c.2456G>C (p.Ser819Thr) n.3040G>C c.1508G>C (p.Ser503Thr) c.998G>C (p.Ser333Thr) c.1454G>C (n.1454G>C) c.2852G>C (p.Ser951Thr) c.2834G>C (p.Ser945Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720688G=	CA2411007759	SHANK3	c.2456G= (p.Ser819=) n.3040G= c.1508G= (p.Ser503=) c.998G= (p.Ser333=) c.1454G= (n.1454G=) c.2852G= (p.Ser951=) c.2834G= (p.Ser945=)
22	g.50720688G>T	CA515260007	SHANK3	c.2456G>T (p.Ser819Ile) n.3040G>T c.1508G>T (p.Ser503Ile) c.998G>T (p.Ser333Ile) c.1454G>T (n.1454G>T) c.2852G>T (p.Ser951Ile) c.2834G>T (p.Ser945Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720688_50720689delinsGC	CA2411007760	SHANK3	c.2456_2457delinsGC (p.Ser819=) n.3040_3041delinsGC c.1508_1509delinsGC (p.Ser503=) c.998_999delinsGC (p.Ser333=) c.1454_1455delinsGC (n.1454_1455delinsGC) c.2852_2853delinsGC (p.Ser951=) c.2834_2835delinsGC (p.Ser945=)
22	g.50720689C>A	CA515260010	SHANK3	c.2457C>A (p.Ser819Arg) n.3041C>A c.1509C>A (p.Ser503Arg) c.999C>A (p.Ser333Arg) c.1455C>A (n.1455C>A) c.2853C>A (p.Ser951Arg) c.2835C>A (p.Ser945Arg)	gnomAD v4
22	g.50720689C=	CA2411007761	SHANK3	c.2457C= (p.Ser819=) n.3041C= c.1509C= (p.Ser503=) c.999C= (p.Ser333=) c.1455C= (n.1455C=) c.2853C= (p.Ser951=) c.2835C= (p.Ser945=)
22	g.50720689C>G	CA515260009	SHANK3	c.2457C>G (p.Ser819Arg) n.3041C>G c.1509C>G (p.Ser503Arg) c.999C>G (p.Ser333Arg) c.1455C>G (n.1455C>G) c.2853C>G (p.Ser951Arg) c.2835C>G (p.Ser945Arg)	dbSNP gnomAD v4
22	g.50720689C>T	CA515260008	SHANK3	c.2457C>T (p.Ser819=) n.3041C>T c.1509C>T (p.Ser503=) c.999C>T (p.Ser333=) c.1455C>T (n.1455C>T) c.2853C>T (p.Ser951=) c.2835C>T (p.Ser945=)	dbSNP gnomAD v4
22	g.50720693dup	CA2657583382	SHANK3	c.2461dup (p.Leu821ProfsTer?) n.3045dup c.1513dup (p.Leu505ProfsTer?) c.1003dup (p.Leu335ProfsTer?) c.1459dup (n.1459dup) c.2857dup (p.Leu953ProfsTer?) c.2839dup (p.Leu947ProfsTer?)	gnomAD v4
22	g.50720693del	CA640358965	SHANK3	c.2461del (p.Leu821TrpfsTer2) n.3045del c.1513del (p.Leu505TrpfsTer2) c.1003del (p.Leu335TrpfsTer2) c.1459del (n.1459del) c.2857del (p.Leu953TrpfsTer2) c.2839del (p.Leu947TrpfsTer2)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720690C>A	CA325578239	SHANK3	c.2458C>A (p.Pro820Thr) n.3042C>A c.1510C>A (p.Pro504Thr) c.1000C>A (p.Pro334Thr) c.1456C>A (n.1456C>A) c.2854C>A (p.Pro952Thr) c.2836C>A (p.Pro946Thr)	dbSNP gnomAD v4
22	g.50720690C=	CA2411007762	SHANK3	c.2458C= (p.Pro820=) n.3042C= c.1510C= (p.Pro504=) c.1000C= (p.Pro334=) c.1456C= (n.1456C=) c.2854C= (p.Pro952=) c.2836C= (p.Pro946=)
22	g.50720690C>G	CA515260011	SHANK3	c.2458C>G (p.Pro820Ala) n.3042C>G c.1510C>G (p.Pro504Ala) c.1000C>G (p.Pro334Ala) c.1456C>G (n.1456C>G) c.2854C>G (p.Pro952Ala) c.2836C>G (p.Pro946Ala)
22	g.50720690C>T	CA515260012	SHANK3	c.2458C>T (p.Pro820Ser) n.3042C>T c.1510C>T (p.Pro504Ser) c.1000C>T (p.Pro334Ser) c.1456C>T (n.1456C>T) c.2854C>T (p.Pro952Ser) c.2836C>T (p.Pro946Ser)	ClinVar gnomAD v4 COSMIC COSMIC
22	g.50720691C>A	CA515260013	SHANK3	c.2459C>A (p.Pro820His) n.3043C>A c.1511C>A (p.Pro504His) c.1001C>A (p.Pro334His) c.1457C>A (n.1457C>A) c.2855C>A (p.Pro952His) c.2837C>A (p.Pro946His)	gnomAD v4
22	g.50720691C=	CA2411007763	SHANK3	c.2459C= (p.Pro820=) n.3043C= c.1511C= (p.Pro504=) c.1001C= (p.Pro334=) c.1457C= (n.1457C=) c.2855C= (p.Pro952=) c.2837C= (p.Pro946=)
22	g.50720691C>G	CA515260014	SHANK3	c.2459C>G (p.Pro820Arg) n.3043C>G c.1511C>G (p.Pro504Arg) c.1001C>G (p.Pro334Arg) c.1457C>G (n.1457C>G) c.2855C>G (p.Pro952Arg) c.2837C>G (p.Pro946Arg)	ClinVar dbSNP gnomAD v4
22	g.50720691C>T	CA10325934	SHANK3	c.2459C>T (p.Pro820Leu) n.3043C>T c.1511C>T (p.Pro504Leu) c.1001C>T (p.Pro334Leu) c.1457C>T (n.1457C>T) c.2855C>T (p.Pro952Leu) c.2837C>T (p.Pro946Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720692C>A	CA515260017	SHANK3	c.2460C>A (p.Pro820=) n.3044C>A c.1512C>A (p.Pro504=) c.1002C>A (p.Pro334=) c.1458C>A (n.1458C>A) c.2856C>A (p.Pro952=) c.2838C>A (p.Pro946=)	gnomAD v4
22	g.50720692C>G	CA515260016	SHANK3	c.2460C>G (p.Pro820=) n.3044C>G c.1512C>G (p.Pro504=) c.1002C>G (p.Pro334=) c.1458C>G (n.1458C>G) c.2856C>G (p.Pro952=) c.2838C>G (p.Pro946=)	gnomAD v4
22	g.50720692C>T	CA515260015	SHANK3	c.2460C>T (p.Pro820=) n.3044C>T c.1512C>T (p.Pro504=) c.1002C>T (p.Pro334=) c.1458C>T (n.1458C>T) c.2856C>T (p.Pro952=) c.2838C>T (p.Pro946=)	gnomAD v4
22	g.50720693C>A	CA515260018	SHANK3	c.2461C>A (p.Leu821Met) n.3045C>A c.1513C>A (p.Leu505Met) c.1003C>A (p.Leu335Met) c.1459C>A (n.1459C>A) c.2857C>A (p.Leu953Met) c.2839C>A (p.Leu947Met)	gnomAD v4
22	g.50720693C=	CA2411007764	SHANK3	c.2461C= (p.Leu821=) n.3045C= c.1513C= (p.Leu505=) c.1003C= (p.Leu335=) c.1459C= (n.1459C=) c.2857C= (p.Leu953=) c.2839C= (p.Leu947=)
22	g.50720693C>G	CA325578240	SHANK3	c.2461C>G (p.Leu821Val) n.3045C>G c.1513C>G (p.Leu505Val) c.1003C>G (p.Leu335Val) c.1459C>G (n.1459C>G) c.2857C>G (p.Leu953Val) c.2839C>G (p.Leu947Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50720693C>T	CA515260019	SHANK3	c.2461C>T (p.Leu821=) n.3045C>T c.1513C>T (p.Leu505=) c.1003C>T (p.Leu335=) c.1459C>T (n.1459C>T) c.2857C>T (p.Leu953=) c.2839C>T (p.Leu947=)	dbSNP gnomAD v4
22	g.50720694del	CA2657583384	SHANK3	c.2462del (p.Leu821ArgfsTer2) n.3046del c.1514del (p.Leu505ArgfsTer2) c.1004del (p.Leu335ArgfsTer2) c.1460del (n.1460del) c.2858del (p.Leu953ArgfsTer2) c.2840del (p.Leu947ArgfsTer2)	gnomAD v4
22	g.50720694T>A	CA515260020	SHANK3	c.2462T>A (p.Leu821Gln) n.3046T>A c.1514T>A (p.Leu505Gln) c.1004T>A (p.Leu335Gln) c.1460T>A (n.1460T>A) c.2858T>A (p.Leu953Gln) c.2840T>A (p.Leu947Gln)	gnomAD v4
22	g.50720694T>C	CA515260021	SHANK3	c.2462T>C (p.Leu821Pro) n.3046T>C c.1514T>C (p.Leu505Pro) c.1004T>C (p.Leu335Pro) c.1460T>C (n.1460T>C) c.2858T>C (p.Leu953Pro) c.2840T>C (p.Leu947Pro)	gnomAD v4
22	g.50720694T>G	CA515260022	SHANK3	c.2462T>G (p.Leu821Arg) n.3046T>G c.1514T>G (p.Leu505Arg) c.1004T>G (p.Leu335Arg) c.1460T>G (n.1460T>G) c.2858T>G (p.Leu953Arg) c.2840T>G (p.Leu947Arg)
22	g.50720694dup	CA2657583383	SHANK3	c.2462dup (p.Val822GlyfsTer?) n.3046dup c.1514dup (p.Val506GlyfsTer?) c.1004dup (p.Val336GlyfsTer?) c.1460dup (n.1460dup) c.2858dup (p.Val954GlyfsTer?) c.2840dup (p.Val948GlyfsTer?)	gnomAD v4
22	g.50720695G>A	CA515260023	SHANK3	c.2463G>A (p.Leu821=) n.3047G>A c.1515G>A (p.Leu505=) c.1005G>A (p.Leu335=) c.1461G>A (n.1461G>A) c.2859G>A (p.Leu953=) c.2841G>A (p.Leu947=)	gnomAD v4
22	g.50720695G>C	CA515260025	SHANK3	c.2463G>C (p.Leu821=) n.3047G>C c.1515G>C (p.Leu505=) c.1005G>C (p.Leu335=) c.1461G>C (n.1461G>C) c.2859G>C (p.Leu953=) c.2841G>C (p.Leu947=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720695G=	CA2411007765	SHANK3	c.2463G= (p.Leu821=) n.3047G= c.1515G= (p.Leu505=) c.1005G= (p.Leu335=) c.1461G= (n.1461G=) c.2859G= (p.Leu953=) c.2841G= (p.Leu947=)
22	g.50720695G>T	CA515260024	SHANK3	c.2463G>T (p.Leu821=) n.3047G>T c.1515G>T (p.Leu505=) c.1005G>T (p.Leu335=) c.1461G>T (n.1461G>T) c.2859G>T (p.Leu953=) c.2841G>T (p.Leu947=)	gnomAD v4
22	g.50720696del	CA2657583385	SHANK3	c.2464del (p.Val822Ter) n.3048del c.1516del (p.Val506Ter) c.1006del (p.Val336Ter) c.1462del (n.1462del) c.2860del (p.Val954Ter) c.2842del (p.Val948Ter)	gnomAD v4
22	g.50720696G>A	CA10325935	SHANK3	c.2464G>A (p.Val822Met) n.3048G>A c.1516G>A (p.Val506Met) c.1006G>A (p.Val336Met) c.1462G>A (n.1462G>A) c.2860G>A (p.Val954Met) c.2842G>A (p.Val948Met)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720696G>C	CA515260026	SHANK3	c.2464G>C (p.Val822Leu) n.3048G>C c.1516G>C (p.Val506Leu) c.1006G>C (p.Val336Leu) c.1462G>C (n.1462G>C) c.2860G>C (p.Val954Leu) c.2842G>C (p.Val948Leu)	gnomAD v4
22	g.50720696G=	CA2411007766	SHANK3	c.2464G= (p.Val822=) n.3048G= c.1516G= (p.Val506=) c.1006G= (p.Val336=) c.1462G= (n.1462G=) c.2860G= (p.Val954=) c.2842G= (p.Val948=)
22	g.50720696G>T	CA515260027	SHANK3	c.2464G>T (p.Val822Leu) n.3048G>T c.1516G>T (p.Val506Leu) c.1006G>T (p.Val336Leu) c.1462G>T (n.1462G>T) c.2860G>T (p.Val954Leu) c.2842G>T (p.Val948Leu)	gnomAD v4
22	g.50720697T>A	CA515260028	SHANK3	c.2465T>A (p.Val822Glu) n.3049T>A c.1517T>A (p.Val506Glu) c.1007T>A (p.Val336Glu) c.1463T>A (n.1463T>A) c.2861T>A (p.Val954Glu) c.2843T>A (p.Val948Glu)	gnomAD v4
22	g.50720697T>C	CA515260029	SHANK3	c.2465T>C (p.Val822Ala) n.3049T>C c.1517T>C (p.Val506Ala) c.1007T>C (p.Val336Ala) c.1463T>C (n.1463T>C) c.2861T>C (p.Val954Ala) c.2843T>C (p.Val948Ala)	gnomAD v4
22	g.50720697T>G	CA515260030	SHANK3	c.2465T>G (p.Val822Gly) n.3049T>G c.1517T>G (p.Val506Gly) c.1007T>G (p.Val336Gly) c.1463T>G (n.1463T>G) c.2861T>G (p.Val954Gly) c.2843T>G (p.Val948Gly)
22	g.50720698del	CA2657583386	SHANK3	c.2466del (p.Lys823SerfsTer?) n.3050del c.1518del (p.Lys507SerfsTer?) c.1008del (p.Lys337SerfsTer?) c.1464del (n.1464del) c.2862del (p.Lys955SerfsTer?) c.2844del (p.Lys949SerfsTer?)	gnomAD v4
22	g.50720698G>A	CA515260031	SHANK3	c.2466G>A (p.Val822=) n.3050G>A c.1518G>A (p.Val506=) c.1008G>A (p.Val336=) c.1464G>A (n.1464G>A) c.2862G>A (p.Val954=) c.2844G>A (p.Val948=)	gnomAD v4
22	g.50720698G>C	CA515260032	SHANK3	c.2466G>C (p.Val822=) n.3050G>C c.1518G>C (p.Val506=) c.1008G>C (p.Val336=) c.1464G>C (n.1464G>C) c.2862G>C (p.Val954=) c.2844G>C (p.Val948=)
22	g.50720698G=	CA2411007767	SHANK3	c.2466G= (p.Val822=) n.3050G= c.1518G= (p.Val506=) c.1008G= (p.Val336=) c.1464G= (n.1464G=) c.2862G= (p.Val954=) c.2844G= (p.Val948=)
22	g.50720698G>T	CA515260033	SHANK3	c.2466G>T (p.Val822=) n.3050G>T c.1518G>T (p.Val506=) c.1008G>T (p.Val336=) c.1464G>T (n.1464G>T) c.2862G>T (p.Val954=) c.2844G>T (p.Val948=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720699A>C	CA515260034	SHANK3	c.2467A>C (p.Lys823Gln) n.3051A>C c.1519A>C (p.Lys507Gln) c.1009A>C (p.Lys337Gln) c.1465A>C (n.1465A>C) c.2863A>C (p.Lys955Gln) c.2845A>C (p.Lys949Gln)	gnomAD v4
22	g.50720699A>G	CA515260035	SHANK3	c.2467A>G (p.Lys823Glu) n.3051A>G c.1519A>G (p.Lys507Glu) c.1009A>G (p.Lys337Glu) c.1465A>G (n.1465A>G) c.2863A>G (p.Lys955Glu) c.2845A>G (p.Lys949Glu)	gnomAD v4
22	g.50720699A>T	CA515260036	SHANK3	c.2467A>T (p.Lys823Ter) n.3051A>T c.1519A>T (p.Lys507Ter) c.1009A>T (p.Lys337Ter) c.1465A>T (n.1465A>T) c.2863A>T (p.Lys955Ter) c.2845A>T (p.Lys949Ter)	gnomAD v4
22	g.50720700A>C	CA515260037	SHANK3	c.2468A>C (p.Lys823Thr) n.3052A>C c.1520A>C (p.Lys507Thr) c.1010A>C (p.Lys337Thr) c.1466A>C (n.1466A>C) c.2864A>C (p.Lys955Thr) c.2846A>C (p.Lys949Thr)	gnomAD v3 gnomAD v4
22	g.50720700A>G	CA515260039	SHANK3	c.2468A>G (p.Lys823Arg) n.3052A>G c.1520A>G (p.Lys507Arg) c.1010A>G (p.Lys337Arg) c.1466A>G (n.1466A>G) c.2864A>G (p.Lys955Arg) c.2846A>G (p.Lys949Arg)	gnomAD v4
22	g.50720700A>T	CA515260038	SHANK3	c.2468A>T (p.Lys823Met) n.3052A>T c.1520A>T (p.Lys507Met) c.1010A>T (p.Lys337Met) c.1466A>T (n.1466A>T) c.2864A>T (p.Lys955Met) c.2846A>T (p.Lys949Met)	gnomAD v4
22	g.50720701G>A	CA325578250	SHANK3	c.2469G>A (p.Lys823=) n.3053G>A c.1521G>A (p.Lys507=) c.1011G>A (p.Lys337=) c.1467G>A (n.1467G>A) c.2865G>A (p.Lys955=) c.2847G>A (p.Lys949=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720701G>C	CA515260040	SHANK3	c.2469G>C (p.Lys823Asn) n.3053G>C c.1521G>C (p.Lys507Asn) c.1011G>C (p.Lys337Asn) c.1467G>C (n.1467G>C) c.2865G>C (p.Lys955Asn) c.2847G>C (p.Lys949Asn)	gnomAD v4
22	g.50720701G=	CA2411007768	SHANK3	c.2469G= (p.Lys823=) n.3053G= c.1521G= (p.Lys507=) c.1011G= (p.Lys337=) c.1467G= (n.1467G=) c.2865G= (p.Lys955=) c.2847G= (p.Lys949=)
22	g.50720701G>T	CA515260041	SHANK3	c.2469G>T (p.Lys823Asn) n.3053G>T c.1521G>T (p.Lys507Asn) c.1011G>T (p.Lys337Asn) c.1467G>T (n.1467G>T) c.2865G>T (p.Lys955Asn) c.2847G>T (p.Lys949Asn)	gnomAD v4
22	g.50720702C>A	CA515260042	SHANK3	c.2470C>A (p.Gln824Lys) n.3054C>A c.1522C>A (p.Gln508Lys) c.1012C>A (p.Gln338Lys) c.1468C>A (n.1468C>A) c.2866C>A (p.Gln956Lys) c.2848C>A (p.Gln950Lys)	gnomAD v4
22	g.50720702C>G	CA515260043	SHANK3	c.2470C>G (p.Gln824Glu) n.3054C>G c.1522C>G (p.Gln508Glu) c.1012C>G (p.Gln338Glu) c.1468C>G (n.1468C>G) c.2866C>G (p.Gln956Glu) c.2848C>G (p.Gln950Glu)
22	g.50720702C>T	CA515260044	SHANK3	c.2470C>T (p.Gln824Ter) n.3054C>T c.1522C>T (p.Gln508Ter) c.1012C>T (p.Gln338Ter) c.1468C>T (n.1468C>T) c.2866C>T (p.Gln956Ter) c.2848C>T (p.Gln950Ter)	gnomAD v4
22	g.50720703A>C	CA515260045	SHANK3	c.2471A>C (p.Gln824Pro) n.3055A>C c.1523A>C (p.Gln508Pro) c.1013A>C (p.Gln338Pro) c.1469A>C (n.1469A>C) c.2867A>C (p.Gln956Pro) c.2849A>C (p.Gln950Pro)	gnomAD v4
22	g.50720703A>G	CA515260046	SHANK3	c.2471A>G (p.Gln824Arg) n.3055A>G c.1523A>G (p.Gln508Arg) c.1013A>G (p.Gln338Arg) c.1469A>G (n.1469A>G) c.2867A>G (p.Gln956Arg) c.2849A>G (p.Gln950Arg)	gnomAD v4
22	g.50720703A>T	CA515260047	SHANK3	c.2471A>T (p.Gln824Leu) n.3055A>T c.1523A>T (p.Gln508Leu) c.1013A>T (p.Gln338Leu) c.1469A>T (n.1469A>T) c.2867A>T (p.Gln956Leu) c.2849A>T (p.Gln950Leu)	gnomAD v4
22	g.50720704G>A	CA515260048	SHANK3	c.2472G>A (p.Gln824=) n.3056G>A c.1524G>A (p.Gln508=) c.1014G>A (p.Gln338=) c.1470G>A (n.1470G>A) c.2868G>A (p.Gln956=) c.2850G>A (p.Gln950=)	gnomAD v4
22	g.50720704G>C	CA515260049	SHANK3	c.2472G>C (p.Gln824His) n.3056G>C c.1524G>C (p.Gln508His) c.1014G>C (p.Gln338His) c.1470G>C (n.1470G>C) c.2868G>C (p.Gln956His) c.2850G>C (p.Gln950His)	gnomAD v4
22	g.50720704G>T	CA515260050	SHANK3	c.2472G>T (p.Gln824His) n.3056G>T c.1524G>T (p.Gln508His) c.1014G>T (p.Gln338His) c.1470G>T (n.1470G>T) c.2868G>T (p.Gln956His) c.2850G>T (p.Gln950His)	gnomAD v4
22	g.50720705C>A	CA515260053	SHANK3	c.2473C>A (p.Leu825Met) n.3057C>A c.1525C>A (p.Leu509Met) c.1015C>A (p.Leu339Met) c.1471C>A (n.1471C>A) c.2869C>A (p.Leu957Met) c.2851C>A (p.Leu951Met)	gnomAD v4
22	g.50720705C=	CA2411007769	SHANK3	c.2473C= (p.Leu825=) n.3057C= c.1525C= (p.Leu509=) c.1015C= (p.Leu339=) c.1471C= (n.1471C=) c.2869C= (p.Leu957=) c.2851C= (p.Leu951=)
22	g.50720705C>G	CA515260052	SHANK3	c.2473C>G (p.Leu825Val) n.3057C>G c.1525C>G (p.Leu509Val) c.1015C>G (p.Leu339Val) c.1471C>G (n.1471C>G) c.2869C>G (p.Leu957Val) c.2851C>G (p.Leu951Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50720705C>T	CA515260051	SHANK3	c.2473C>T (p.Leu825=) n.3057C>T c.1525C>T (p.Leu509=) c.1015C>T (p.Leu339=) c.1471C>T (n.1471C>T) c.2869C>T (p.Leu957=) c.2851C>T (p.Leu951=)	gnomAD v4
22	g.50720706T>A	CA515260054	SHANK3	c.2474T>A (p.Leu825Gln) n.3058T>A c.1526T>A (p.Leu509Gln) c.1016T>A (p.Leu339Gln) c.1472T>A (n.1472T>A) c.2870T>A (p.Leu957Gln) c.2852T>A (p.Leu951Gln)	gnomAD v4
22	g.50720706T>C	CA515260055	SHANK3	c.2474T>C (p.Leu825Pro) n.3058T>C c.1526T>C (p.Leu509Pro) c.1016T>C (p.Leu339Pro) c.1472T>C (n.1472T>C) c.2870T>C (p.Leu957Pro) c.2852T>C (p.Leu951Pro)	gnomAD v4
22	g.50720706T>G	CA515260056	SHANK3	c.2474T>G (p.Leu825Arg) n.3058T>G c.1526T>G (p.Leu509Arg) c.1016T>G (p.Leu339Arg) c.1472T>G (n.1472T>G) c.2870T>G (p.Leu957Arg) c.2852T>G (p.Leu951Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50720706T=	CA2411007770	SHANK3	c.2474T= (p.Leu825=) n.3058T= c.1526T= (p.Leu509=) c.1016T= (p.Leu339=) c.1472T= (n.1472T=) c.2870T= (p.Leu957=) c.2852T= (p.Leu951=)
22	g.50720707del	CA2657583387	SHANK3	c.2475del (p.Gln826ArgfsTer?) n.3059del c.1527del (p.Gln510ArgfsTer?) c.1017del (p.Gln340ArgfsTer?) c.1473del (n.1473del) c.2871del (p.Gln958ArgfsTer?) c.2853del (p.Gln952ArgfsTer?)	gnomAD v4
22	g.50720707G>A	CA515260057	SHANK3	c.2475G>A (p.Leu825=) n.3059G>A c.1527G>A (p.Leu509=) c.1017G>A (p.Leu339=) c.1473G>A (n.1473G>A) c.2871G>A (p.Leu957=) c.2853G>A (p.Leu951=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720707G>C	CA515260058	SHANK3	c.2475G>C (p.Leu825=) n.3059G>C c.1527G>C (p.Leu509=) c.1017G>C (p.Leu339=) c.1473G>C (n.1473G>C) c.2871G>C (p.Leu957=) c.2853G>C (p.Leu951=)	gnomAD v4
22	g.50720707G=	CA2411007771	SHANK3	c.2475G= (p.Leu825=) n.3059G= c.1527G= (p.Leu509=) c.1017G= (p.Leu339=) c.1473G= (n.1473G=) c.2871G= (p.Leu957=) c.2853G= (p.Leu951=)
22	g.50720707G>T	CA515260059	SHANK3	c.2475G>T (p.Leu825=) n.3059G>T c.1527G>T (p.Leu509=) c.1017G>T (p.Leu339=) c.1473G>T (n.1473G>T) c.2871G>T (p.Leu957=) c.2853G>T (p.Leu951=)	gnomAD v3 gnomAD v4
22	g.50720708del	CA2657583388	SHANK3	c.2476del (p.Gln826ArgfsTer?) n.3060del c.1528del (p.Gln510ArgfsTer?) c.1018del (p.Gln340ArgfsTer?) c.1474del (n.1474del) c.2872del (p.Gln958ArgfsTer?) c.2854del (p.Gln952ArgfsTer?)	gnomAD v4
22	g.50720708C>A	CA515260060	SHANK3	c.2476C>A (p.Gln826Lys) n.3060C>A c.1528C>A (p.Gln510Lys) c.1018C>A (p.Gln340Lys) c.1474C>A (n.1474C>A) c.2872C>A (p.Gln958Lys) c.2854C>A (p.Gln952Lys)	gnomAD v4
22	g.50720708C>G	CA515260061	SHANK3	c.2476C>G (p.Gln826Glu) n.3060C>G c.1528C>G (p.Gln510Glu) c.1018C>G (p.Gln340Glu) c.1474C>G (n.1474C>G) c.2872C>G (p.Gln958Glu) c.2854C>G (p.Gln952Glu)	gnomAD v4
22	g.50720708C>T	CA515260062	SHANK3	c.2476C>T (p.Gln826Ter) n.3060C>T c.1528C>T (p.Gln510Ter) c.1018C>T (p.Gln340Ter) c.1474C>T (n.1474C>T) c.2872C>T (p.Gln958Ter) c.2854C>T (p.Gln952Ter)	gnomAD v4
22	g.50720709del	CA2657583389	SHANK3	c.2477del (p.Gln826ArgfsTer?) n.3061del c.1529del (p.Gln510ArgfsTer?) c.1019del (p.Gln340ArgfsTer?) c.1475del (n.1475del) c.2873del (p.Gln958ArgfsTer?) c.2855del (p.Gln952ArgfsTer?)	gnomAD v4
22	g.50720709A>C	CA515260063	SHANK3	c.2477A>C (p.Gln826Pro) n.3061A>C c.1529A>C (p.Gln510Pro) c.1019A>C (p.Gln340Pro) c.1475A>C (n.1475A>C) c.2873A>C (p.Gln958Pro) c.2855A>C (p.Gln952Pro)
22	g.50720709A>G	CA515260064	SHANK3	c.2477A>G (p.Gln826Arg) n.3061A>G c.1529A>G (p.Gln510Arg) c.1019A>G (p.Gln340Arg) c.1475A>G (n.1475A>G) c.2873A>G (p.Gln958Arg) c.2855A>G (p.Gln952Arg)	gnomAD v4
22	g.50720709A>T	CA515260065	SHANK3	c.2477A>T (p.Gln826Leu) n.3061A>T c.1529A>T (p.Gln510Leu) c.1019A>T (p.Gln340Leu) c.1475A>T (n.1475A>T) c.2873A>T (p.Gln958Leu) c.2855A>T (p.Gln952Leu)	gnomAD v4
22	g.50720710G>A	CA515260068	SHANK3	c.2478G>A (p.Gln826=) n.3062G>A c.1530G>A (p.Gln510=) c.1020G>A (p.Gln340=) c.1476G>A (n.1476G>A) c.2874G>A (p.Gln958=) c.2856G>A (p.Gln952=)	gnomAD v4
22	g.50720710G>C	CA515260067	SHANK3	c.2478G>C (p.Gln826His) n.3062G>C c.1530G>C (p.Gln510His) c.1020G>C (p.Gln340His) c.1476G>C (n.1476G>C) c.2874G>C (p.Gln958His) c.2856G>C (p.Gln952His)
22	g.50720710G>T	CA515260066	SHANK3	c.2478G>T (p.Gln826His) n.3062G>T c.1530G>T (p.Gln510His) c.1020G>T (p.Gln340His) c.1476G>T (n.1476G>T) c.2874G>T (p.Gln958His) c.2856G>T (p.Gln952His)	gnomAD v4
22	g.50720711G>A	CA515260069	SHANK3	c.2479G>A (p.Val827Met) n.3063G>A c.1531G>A (p.Val511Met) c.1021G>A (p.Val341Met) c.1477G>A (n.1477G>A) c.2875G>A (p.Val959Met) c.2857G>A (p.Val953Met)	dbSNP gnomAD v3 gnomAD v4
22	g.50720711G>C	CA515260071	SHANK3	c.2479G>C (p.Val827Leu) n.3063G>C c.1531G>C (p.Val511Leu) c.1021G>C (p.Val341Leu) c.1477G>C (n.1477G>C) c.2875G>C (p.Val959Leu) c.2857G>C (p.Val953Leu)	gnomAD v4
22	g.50720711G=	CA2411007772	SHANK3	c.2479G= (p.Val827=) n.3063G= c.1531G= (p.Val511=) c.1021G= (p.Val341=) c.1477G= (n.1477G=) c.2875G= (p.Val959=) c.2857G= (p.Val953=)
22	g.50720711G>T	CA515260070	SHANK3	c.2479G>T (p.Val827Leu) n.3063G>T c.1531G>T (p.Val511Leu) c.1021G>T (p.Val341Leu) c.1477G>T (n.1477G>T) c.2875G>T (p.Val959Leu) c.2857G>T (p.Val953Leu)	gnomAD v4
22	g.50720712T>A	CA515260072	SHANK3	c.2480T>A (p.Val827Glu) n.3064T>A c.1532T>A (p.Val511Glu) c.1022T>A (p.Val341Glu) c.1478T>A (n.1478T>A) c.2876T>A (p.Val959Glu) c.2858T>A (p.Val953Glu)
22	g.50720712T>C	CA515260073	SHANK3	c.2480T>C (p.Val827Ala) n.3064T>C c.1532T>C (p.Val511Ala) c.1022T>C (p.Val341Ala) c.1478T>C (n.1478T>C) c.2876T>C (p.Val959Ala) c.2858T>C (p.Val953Ala)	gnomAD v4
22	g.50720712T>G	CA515260074	SHANK3	c.2480T>G (p.Val827Gly) n.3064T>G c.1532T>G (p.Val511Gly) c.1022T>G (p.Val341Gly) c.1478T>G (n.1478T>G) c.2876T>G (p.Val959Gly) c.2858T>G (p.Val953Gly)	gnomAD v4
22	g.50720713G>A	CA515260075	SHANK3	c.2481G>A (p.Val827=) n.3065G>A c.1533G>A (p.Val511=) c.1023G>A (p.Val341=) c.1479G>A (n.1479G>A) c.2877G>A (p.Val959=) c.2859G>A (p.Val953=)	dbSNP gnomAD v4
22	g.50720713G>C	CA515260076	SHANK3	c.2481G>C (p.Val827=) n.3065G>C c.1533G>C (p.Val511=) c.1023G>C (p.Val341=) c.1479G>C (n.1479G>C) c.2877G>C (p.Val959=) c.2859G>C (p.Val953=)	gnomAD v4
22	g.50720713G=	CA2411007773	SHANK3	c.2481G= (p.Val827=) n.3065G= c.1533G= (p.Val511=) c.1023G= (p.Val341=) c.1479G= (n.1479G=) c.2877G= (p.Val959=) c.2859G= (p.Val953=)
22	g.50720713G>T	CA515260077	SHANK3	c.2481G>T (p.Val827=) n.3065G>T c.1533G>T (p.Val511=) c.1023G>T (p.Val341=) c.1479G>T (n.1479G>T) c.2877G>T (p.Val959=) c.2859G>T (p.Val953=)	gnomAD v4
22	g.50720714del	CA2657583390	SHANK3	c.2482del (p.Glu828ArgfsTer?) n.3066del c.1534del (p.Glu512ArgfsTer?) c.1024del (p.Glu342ArgfsTer?) c.1480del (n.1480del) c.2878del (p.Glu960ArgfsTer?) c.2860del (p.Glu954ArgfsTer?)	gnomAD v4
22	g.50720716_50720718del	CA2657583391	SHANK3	c.2484_2486del (p.Glu828del) n.3068_3070del c.1536_1538del (p.Glu512del) c.1026_1028del (p.Glu342del) c.1482_1484del (n.1482_1484del) c.2880_2882del (p.Glu960del) c.2862_2864del (p.Glu954del)	gnomAD v4
22	g.50720714G>A	CA515260080	SHANK3	c.2482G>A (p.Glu828Lys) n.3066G>A c.1534G>A (p.Glu512Lys) c.1024G>A (p.Glu342Lys) c.1480G>A (n.1480G>A) c.2878G>A (p.Glu960Lys) c.2860G>A (p.Glu954Lys)	gnomAD v4
22	g.50720714G>C	CA515260079	SHANK3	c.2482G>C (p.Glu828Gln) n.3066G>C c.1534G>C (p.Glu512Gln) c.1024G>C (p.Glu342Gln) c.1480G>C (n.1480G>C) c.2878G>C (p.Glu960Gln) c.2860G>C (p.Glu954Gln)	gnomAD v4
22	g.50720714G>T	CA515260078	SHANK3	c.2482G>T (p.Glu828Ter) n.3066G>T c.1534G>T (p.Glu512Ter) c.1024G>T (p.Glu342Ter) c.1480G>T (n.1480G>T) c.2878G>T (p.Glu960Ter) c.2860G>T (p.Glu954Ter)	gnomAD v4
22	g.50720715del	CA2657583392	SHANK3	c.2483del (p.Glu828GlyfsTer?) n.3067del c.1535del (p.Glu512GlyfsTer?) c.1025del (p.Glu342GlyfsTer?) c.1481del (n.1481del) c.2879del (p.Glu960GlyfsTer?) c.2861del (p.Glu954GlyfsTer?)	gnomAD v4
22	g.50720715A>C	CA515260081	SHANK3	c.2483A>C (p.Glu828Ala) n.3067A>C c.1535A>C (p.Glu512Ala) c.1025A>C (p.Glu342Ala) c.1481A>C (n.1481A>C) c.2879A>C (p.Glu960Ala) c.2861A>C (p.Glu954Ala)	gnomAD v4
22	g.50720715A>G	CA515260082	SHANK3	c.2483A>G (p.Glu828Gly) n.3067A>G c.1535A>G (p.Glu512Gly) c.1025A>G (p.Glu342Gly) c.1481A>G (n.1481A>G) c.2879A>G (p.Glu960Gly) c.2861A>G (p.Glu954Gly)	gnomAD v4
22	g.50720715A>T	CA515260083	SHANK3	c.2483A>T (p.Glu828Val) n.3067A>T c.1535A>T (p.Glu512Val) c.1025A>T (p.Glu342Val) c.1481A>T (n.1481A>T) c.2879A>T (p.Glu960Val) c.2861A>T (p.Glu954Val)	gnomAD v4
22	g.50720716G>A	CA515260084	SHANK3	c.2484G>A (p.Glu828=) n.3068G>A c.1536G>A (p.Glu512=) c.1026G>A (p.Glu342=) c.1482G>A (n.1482G>A) c.2880G>A (p.Glu960=) c.2862G>A (p.Glu954=)	gnomAD v4
22	g.50720716G>C	CA515260085	SHANK3	c.2484G>C (p.Glu828Asp) n.3068G>C c.1536G>C (p.Glu512Asp) c.1026G>C (p.Glu342Asp) c.1482G>C (n.1482G>C) c.2880G>C (p.Glu960Asp) c.2862G>C (p.Glu954Asp)
22	g.50720716G>T	CA515260086	SHANK3	c.2484G>T (p.Glu828Asp) n.3068G>T c.1536G>T (p.Glu512Asp) c.1026G>T (p.Glu342Asp) c.1482G>T (n.1482G>T) c.2880G>T (p.Glu960Asp) c.2862G>T (p.Glu954Asp)	gnomAD v4
22	g.50720717G>A	CA515260087	SHANK3	c.2485G>A (p.Asp829Asn) n.3069G>A c.1537G>A (p.Asp513Asn) c.1027G>A (p.Asp343Asn) c.1483G>A (n.1483G>A) c.2881G>A (p.Asp961Asn) c.2863G>A (p.Asp955Asn)	gnomAD v4
22	g.50720717G>C	CA515260089	SHANK3	c.2485G>C (p.Asp829His) n.3069G>C c.1537G>C (p.Asp513His) c.1027G>C (p.Asp343His) c.1483G>C (n.1483G>C) c.2881G>C (p.Asp961His) c.2863G>C (p.Asp955His)	gnomAD v4
22	g.50720717G>T	CA515260088	SHANK3	c.2485G>T (p.Asp829Tyr) n.3069G>T c.1537G>T (p.Asp513Tyr) c.1027G>T (p.Asp343Tyr) c.1483G>T (n.1483G>T) c.2881G>T (p.Asp961Tyr) c.2863G>T (p.Asp955Tyr)	gnomAD v4
22	g.50720718A>C	CA515260090	SHANK3	c.2486A>C (p.Asp829Ala) n.3070A>C c.1538A>C (p.Asp513Ala) c.1028A>C (p.Asp343Ala) c.1484A>C (n.1484A>C) c.2882A>C (p.Asp961Ala) c.2864A>C (p.Asp955Ala)
22	g.50720718A>G	CA515260091	SHANK3	c.2486A>G (p.Asp829Gly) n.3070A>G c.1538A>G (p.Asp513Gly) c.1028A>G (p.Asp343Gly) c.1484A>G (n.1484A>G) c.2882A>G (p.Asp961Gly) c.2864A>G (p.Asp955Gly)	gnomAD v4
22	g.50720718A>T	CA515260092	SHANK3	c.2486A>T (p.Asp829Val) n.3070A>T c.1538A>T (p.Asp513Val) c.1028A>T (p.Asp343Val) c.1484A>T (n.1484A>T) c.2882A>T (p.Asp961Val) c.2864A>T (p.Asp955Val)
22	g.50720719del	CA2657583393	SHANK3	c.2487del (p.Asp829GlufsTer?) n.3071del c.1539del (p.Asp513GlufsTer?) c.1029del (p.Asp343GlufsTer?) c.1485del (n.1485del) c.2883del (p.Asp961GlufsTer?) c.2865del (p.Asp955GlufsTer?)	gnomAD v4
22	g.50720719C>A	CA515260093	SHANK3	c.2487C>A (p.Asp829Glu) n.3071C>A c.1539C>A (p.Asp513Glu) c.1029C>A (p.Asp343Glu) c.1485C>A (n.1485C>A) c.2883C>A (p.Asp961Glu) c.2865C>A (p.Asp955Glu)	gnomAD v4
22	g.50720719C>G	CA515260094	SHANK3	c.2487C>G (p.Asp829Glu) n.3071C>G c.1539C>G (p.Asp513Glu) c.1029C>G (p.Asp343Glu) c.1485C>G (n.1485C>G) c.2883C>G (p.Asp961Glu) c.2865C>G (p.Asp955Glu)
22	g.50720719C>T	CA515260095	SHANK3	c.2487C>T (p.Asp829=) n.3071C>T c.1539C>T (p.Asp513=) c.1029C>T (p.Asp343=) c.1485C>T (n.1485C>T) c.2883C>T (p.Asp961=) c.2865C>T (p.Asp955=)	gnomAD v4
22	g.50720720G>A	CA515260096	SHANK3	c.2488G>A (p.Ala830Thr) n.3072G>A c.1540G>A (p.Ala514Thr) c.1030G>A (p.Ala344Thr) c.1486G>A (n.1486G>A) c.2884G>A (p.Ala962Thr) c.2866G>A (p.Ala956Thr)	dbSNP gnomAD v4
22	g.50720720G>C	CA515260097	SHANK3	c.2488G>C (p.Ala830Pro) n.3072G>C c.1540G>C (p.Ala514Pro) c.1030G>C (p.Ala344Pro) c.1486G>C (n.1486G>C) c.2884G>C (p.Ala962Pro) c.2866G>C (p.Ala956Pro)	gnomAD v4
22	g.50720720G=	CA2411007774	SHANK3	c.2488G= (p.Ala830=) n.3072G= c.1540G= (p.Ala514=) c.1030G= (p.Ala344=) c.1486G= (n.1486G=) c.2884G= (p.Ala962=) c.2866G= (p.Ala956=)
22	g.50720720G>T	CA515260098	SHANK3	c.2488G>T (p.Ala830Ser) n.3072G>T c.1540G>T (p.Ala514Ser) c.1030G>T (p.Ala344Ser) c.1486G>T (n.1486G>T) c.2884G>T (p.Ala962Ser) c.2866G>T (p.Ala956Ser)	gnomAD v4
22	g.50720721del	CA2657583394	SHANK3	c.2489del (p.Ala830GlyfsTer?) n.3073del c.1541del (p.Ala514GlyfsTer?) c.1031del (p.Ala344GlyfsTer?) c.1487del (n.1487del) c.2885del (p.Ala962GlyfsTer?) c.2867del (p.Ala956GlyfsTer?)	gnomAD v4
22	g.50720721C>A	CA515260099	SHANK3	c.2489C>A (p.Ala830Glu) n.3073C>A c.1541C>A (p.Ala514Glu) c.1031C>A (p.Ala344Glu) c.1487C>A (n.1487C>A) c.2885C>A (p.Ala962Glu) c.2867C>A (p.Ala956Glu)	gnomAD v4
22	g.50720721C=	CA2411007775	SHANK3	c.2489C= (p.Ala830=) n.3073C= c.1541C= (p.Ala514=) c.1031C= (p.Ala344=) c.1487C= (n.1487C=) c.2885C= (p.Ala962=) c.2867C= (p.Ala956=)
22	g.50720721C>G	CA515260100	SHANK3	c.2489C>G (p.Ala830Gly) n.3073C>G c.1541C>G (p.Ala514Gly) c.1031C>G (p.Ala344Gly) c.1487C>G (n.1487C>G) c.2885C>G (p.Ala962Gly) c.2867C>G (p.Ala956Gly)
22	g.50720721C>T	CA515260101	SHANK3	c.2489C>T (p.Ala830Val) n.3073C>T c.1541C>T (p.Ala514Val) c.1031C>T (p.Ala344Val) c.1487C>T (n.1487C>T) c.2885C>T (p.Ala962Val) c.2867C>T (p.Ala956Val)	dbSNP gnomAD v4
22	g.50720722G>A	CA515260102	SHANK3	c.2490G>A (p.Ala830=) n.3074G>A c.1542G>A (p.Ala514=) c.1032G>A (p.Ala344=) c.1488G>A (n.1488G>A) c.2886G>A (p.Ala962=) c.2868G>A (p.Ala956=)	dbSNP gnomAD v4
22	g.50720722G>C	CA10325936	SHANK3	c.2490G>C (p.Ala830=) n.3074G>C c.1542G>C (p.Ala514=) c.1032G>C (p.Ala344=) c.1488G>C (n.1488G>C) c.2886G>C (p.Ala962=) c.2868G>C (p.Ala956=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720722G=	CA2411007776	SHANK3	c.2490G= (p.Ala830=) n.3074G= c.1542G= (p.Ala514=) c.1032G= (p.Ala344=) c.1488G= (n.1488G=) c.2886G= (p.Ala962=) c.2868G= (p.Ala956=)
22	g.50720722G>T	CA515260103	SHANK3	c.2490G>T (p.Ala830=) n.3074G>T c.1542G>T (p.Ala514=) c.1032G>T (p.Ala344=) c.1488G>T (n.1488G>T) c.2886G>T (p.Ala962=) c.2868G>T (p.Ala956=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720723C>A	CA515260104	SHANK3	c.2491C>A (p.Gln831Lys) n.3075C>A c.1543C>A (p.Gln515Lys) c.1033C>A (p.Gln345Lys) c.1489C>A (n.1489C>A) c.2887C>A (p.Gln963Lys) c.2869C>A (p.Gln957Lys)	dbSNP gnomAD v3 gnomAD v4
22	g.50720723C=	CA2411007777	SHANK3	c.2491C= (p.Gln831=) n.3075C= c.1543C= (p.Gln515=) c.1033C= (p.Gln345=) c.1489C= (n.1489C=) c.2887C= (p.Gln963=) c.2869C= (p.Gln957=)
22	g.50720723C>G	CA515260105	SHANK3	c.2491C>G (p.Gln831Glu) n.3075C>G c.1543C>G (p.Gln515Glu) c.1033C>G (p.Gln345Glu) c.1489C>G (n.1489C>G) c.2887C>G (p.Gln963Glu) c.2869C>G (p.Gln957Glu)	gnomAD v4
22	g.50720723C>T	CA515260106	SHANK3	c.2491C>T (p.Gln831Ter) n.3075C>T c.1543C>T (p.Gln515Ter) c.1033C>T (p.Gln345Ter) c.1489C>T (n.1489C>T) c.2887C>T (p.Gln963Ter) c.2869C>T (p.Gln957Ter)	gnomAD v4
22	g.50720724A>C	CA515260107	SHANK3	c.2492A>C (p.Gln831Pro) n.3076A>C c.1544A>C (p.Gln515Pro) c.1034A>C (p.Gln345Pro) c.1490A>C (n.1490A>C) c.2888A>C (p.Gln963Pro) c.2870A>C (p.Gln957Pro)	gnomAD v4
22	g.50720724A>G	CA515260108	SHANK3	c.2492A>G (p.Gln831Arg) n.3076A>G c.1544A>G (p.Gln515Arg) c.1034A>G (p.Gln345Arg) c.1490A>G (n.1490A>G) c.2888A>G (p.Gln963Arg) c.2870A>G (p.Gln957Arg)	gnomAD v4
22	g.50720724A>T	CA515260109	SHANK3	c.2492A>T (p.Gln831Leu) n.3076A>T c.1544A>T (p.Gln515Leu) c.1034A>T (p.Gln345Leu) c.1490A>T (n.1490A>T) c.2888A>T (p.Gln963Leu) c.2870A>T (p.Gln957Leu)	gnomAD v4
22	g.50720725G>A	CA515260110	SHANK3	c.2493G>A (p.Gln831=) n.3077G>A c.1545G>A (p.Gln515=) c.1035G>A (p.Gln345=) c.1491G>A (n.1491G>A) c.2889G>A (p.Gln963=) c.2871G>A (p.Gln957=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720725G>C	CA515260111	SHANK3	c.2493G>C (p.Gln831His) n.3077G>C c.1545G>C (p.Gln515His) c.1035G>C (p.Gln345His) c.1491G>C (n.1491G>C) c.2889G>C (p.Gln963His) c.2871G>C (p.Gln957His)	gnomAD v4
22	g.50720725G=	CA2411007778	SHANK3	c.2493G= (p.Gln831=) n.3077G= c.1545G= (p.Gln515=) c.1035G= (p.Gln345=) c.1491G= (n.1491G=) c.2889G= (p.Gln963=) c.2871G= (p.Gln957=)
22	g.50720725G>T	CA515260112	SHANK3	c.2493G>T (p.Gln831His) n.3077G>T c.1545G>T (p.Gln515His) c.1035G>T (p.Gln345His) c.1491G>T (n.1491G>T) c.2889G>T (p.Gln963His) c.2871G>T (p.Gln957His)	gnomAD v4
22	g.50720726G>A	CA515260113	SHANK3	c.2494G>A (p.Glu832Lys) n.3078G>A c.1546G>A (p.Glu516Lys) c.1036G>A (p.Glu346Lys) c.1492G>A (n.1492G>A) c.2890G>A (p.Glu964Lys) c.2872G>A (p.Glu958Lys)	gnomAD v4
22	g.50720726G>C	CA515260114	SHANK3	c.2494G>C (p.Glu832Gln) n.3078G>C c.1546G>C (p.Glu516Gln) c.1036G>C (p.Glu346Gln) c.1492G>C (n.1492G>C) c.2890G>C (p.Glu964Gln) c.2872G>C (p.Glu958Gln)	gnomAD v4
22	g.50720726G>T	CA515260115	SHANK3	c.2494G>T (p.Glu832Ter) n.3078G>T c.1546G>T (p.Glu516Ter) c.1036G>T (p.Glu346Ter) c.1492G>T (n.1492G>T) c.2890G>T (p.Glu964Ter) c.2872G>T (p.Glu958Ter)	gnomAD v4
22	g.50720727A=	CA2411007779	SHANK3	c.2495A= (p.Glu832=) n.3079A= c.1547A= (p.Glu516=) c.1037A= (p.Glu346=) c.1493A= (n.1493A=) c.2891A= (p.Glu964=) c.2873A= (p.Glu958=)
22	g.50720727A>C	CA515260118	SHANK3	c.2495A>C (p.Glu832Ala) n.3079A>C c.1547A>C (p.Glu516Ala) c.1037A>C (p.Glu346Ala) c.1493A>C (n.1493A>C) c.2891A>C (p.Glu964Ala) c.2873A>C (p.Glu958Ala)
22	g.50720727A>G	CA515260117	SHANK3	c.2495A>G (p.Glu832Gly) n.3079A>G c.1547A>G (p.Glu516Gly) c.1037A>G (p.Glu346Gly) c.1493A>G (n.1493A>G) c.2891A>G (p.Glu964Gly) c.2873A>G (p.Glu958Gly)	dbSNP gnomAD v3 gnomAD v4
22	g.50720727A>T	CA515260116	SHANK3	c.2495A>T (p.Glu832Val) n.3079A>T c.1547A>T (p.Glu516Val) c.1037A>T (p.Glu346Val) c.1493A>T (n.1493A>T) c.2891A>T (p.Glu964Val) c.2873A>T (p.Glu958Val)
22	g.50720728G>A	CA515260119	SHANK3	c.2496G>A (p.Glu832=) n.3080G>A c.1548G>A (p.Glu516=) c.1038G>A (p.Glu346=) c.1494G>A (n.1494G>A) c.2892G>A (p.Glu964=) c.2874G>A (p.Glu958=)	gnomAD v4
22	g.50720728G>C	CA515260120	SHANK3	c.2496G>C (p.Glu832Asp) n.3080G>C c.1548G>C (p.Glu516Asp) c.1038G>C (p.Glu346Asp) c.1494G>C (n.1494G>C) c.2892G>C (p.Glu964Asp) c.2874G>C (p.Glu958Asp)
22	g.50720728G>T	CA515260121	SHANK3	c.2496G>T (p.Glu832Asp) n.3080G>T c.1548G>T (p.Glu516Asp) c.1038G>T (p.Glu346Asp) c.1494G>T (n.1494G>T) c.2892G>T (p.Glu964Asp) c.2874G>T (p.Glu958Asp)	gnomAD v4
22	g.50720729C>A	CA515260122	SHANK3	c.2497C>A (p.Arg833Ser) n.3081C>A c.1549C>A (p.Arg517Ser) c.1039C>A (p.Arg347Ser) c.1495C>A (n.1495C>A) c.2893C>A (p.Arg965Ser) c.2875C>A (p.Arg959Ser)	gnomAD v4
22	g.50720729C>G	CA515260123	SHANK3	c.2497C>G (p.Arg833Gly) n.3081C>G c.1549C>G (p.Arg517Gly) c.1039C>G (p.Arg347Gly) c.1495C>G (n.1495C>G) c.2893C>G (p.Arg965Gly) c.2875C>G (p.Arg959Gly)	gnomAD v4
22	g.50720729C>T	CA515260124	SHANK3	c.2497C>T (p.Arg833Cys) n.3081C>T c.1549C>T (p.Arg517Cys) c.1039C>T (p.Arg347Cys) c.1495C>T (n.1495C>T) c.2893C>T (p.Arg965Cys) c.2875C>T (p.Arg959Cys)	gnomAD v4
22	g.50720730G>A	CA325578258	SHANK3	c.2498G>A (p.Arg833His) n.3082G>A c.1550G>A (p.Arg517His) c.1040G>A (p.Arg347His) c.1496G>A (n.1496G>A) c.2894G>A (p.Arg965His) c.2876G>A (p.Arg959His)	dbSNP gnomAD v4
22	g.50720730G>C	CA515260125	SHANK3	c.2498G>C (p.Arg833Pro) n.3082G>C c.1550G>C (p.Arg517Pro) c.1040G>C (p.Arg347Pro) c.1496G>C (n.1496G>C) c.2894G>C (p.Arg965Pro) c.2876G>C (p.Arg959Pro)	gnomAD v4
22	g.50720730G=	CA2411007780	SHANK3	c.2498G= (p.Arg833=) n.3082G= c.1550G= (p.Arg517=) c.1040G= (p.Arg347=) c.1496G= (n.1496G=) c.2894G= (p.Arg965=) c.2876G= (p.Arg959=)
22	g.50720730G>T	CA515260126	SHANK3	c.2498G>T (p.Arg833Leu) n.3082G>T c.1550G>T (p.Arg517Leu) c.1040G>T (p.Arg347Leu) c.1496G>T (n.1496G>T) c.2894G>T (p.Arg965Leu) c.2876G>T (p.Arg959Leu)	gnomAD v4
22	g.50720731C>A	CA515260127	SHANK3	c.2499C>A (p.Arg833=) n.3083C>A c.1551C>A (p.Arg517=) c.1041C>A (p.Arg347=) c.1497C>A (n.1497C>A) c.2895C>A (p.Arg965=) c.2877C>A (p.Arg959=)	gnomAD v4
22	g.50720731C=	CA2411007781	SHANK3	c.2499C= (p.Arg833=) n.3083C= c.1551C= (p.Arg517=) c.1041C= (p.Arg347=) c.1497C= (n.1497C=) c.2895C= (p.Arg965=) c.2877C= (p.Arg959=)
22	g.50720731C>G	CA515260128	SHANK3	c.2499C>G (p.Arg833=) n.3083C>G c.1551C>G (p.Arg517=) c.1041C>G (p.Arg347=) c.1497C>G (n.1497C>G) c.2895C>G (p.Arg965=) c.2877C>G (p.Arg959=)	gnomAD v4
22	g.50720731C>T	CA515260129	SHANK3	c.2499C>T (p.Arg833=) n.3083C>T c.1551C>T (p.Arg517=) c.1041C>T (p.Arg347=) c.1497C>T (n.1497C>T) c.2895C>T (p.Arg965=) c.2877C>T (p.Arg959=)	dbSNP gnomAD v4
22	g.50720732G>A	CA515260130	SHANK3	c.2500G>A (p.Ala834Thr) n.3084G>A c.1552G>A (p.Ala518Thr) c.1042G>A (p.Ala348Thr) c.1498G>A (n.1498G>A) c.2896G>A (p.Ala966Thr) c.2878G>A (p.Ala960Thr)	gnomAD v4
22	g.50720732G>C	CA325578260	SHANK3	c.2500G>C (p.Ala834Pro) n.3084G>C c.1552G>C (p.Ala518Pro) c.1042G>C (p.Ala348Pro) c.1498G>C (n.1498G>C) c.2896G>C (p.Ala966Pro) c.2878G>C (p.Ala960Pro)	dbSNP gnomAD v4
22	g.50720732G=	CA2411007782	SHANK3	c.2500G= (p.Ala834=) n.3084G= c.1552G= (p.Ala518=) c.1042G= (p.Ala348=) c.1498G= (n.1498G=) c.2896G= (p.Ala966=) c.2878G= (p.Ala960=)
22	g.50720732G>T	CA515260131	SHANK3	c.2500G>T (p.Ala834Ser) n.3084G>T c.1552G>T (p.Ala518Ser) c.1042G>T (p.Ala348Ser) c.1498G>T (n.1498G>T) c.2896G>T (p.Ala966Ser) c.2878G>T (p.Ala960Ser)	gnomAD v4
22	g.50720733C>A	CA515260132	SHANK3	c.2501C>A (p.Ala834Glu) n.3085C>A c.1553C>A (p.Ala518Glu) c.1043C>A (p.Ala348Glu) c.1499C>A (n.1499C>A) c.2897C>A (p.Ala966Glu) c.2879C>A (p.Ala960Glu)	gnomAD v4
22	g.50720733C=	CA2411007783	SHANK3	c.2501C= (p.Ala834=) n.3085C= c.1553C= (p.Ala518=) c.1043C= (p.Ala348=) c.1499C= (n.1499C=) c.2897C= (p.Ala966=) c.2879C= (p.Ala960=)
22	g.50720733C>G	CA515260134	SHANK3	c.2501C>G (p.Ala834Gly) n.3085C>G c.1553C>G (p.Ala518Gly) c.1043C>G (p.Ala348Gly) c.1499C>G (n.1499C>G) c.2897C>G (p.Ala966Gly) c.2879C>G (p.Ala960Gly)	gnomAD v4
22	g.50720733C>T	CA515260133	SHANK3	c.2501C>T (p.Ala834Val) n.3085C>T c.1553C>T (p.Ala518Val) c.1043C>T (p.Ala348Val) c.1499C>T (n.1499C>T) c.2897C>T (p.Ala966Val) c.2879C>T (p.Ala960Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50720734G>A	CA515260135	SHANK3	c.2502G>A (p.Ala834=) n.3086G>A c.1554G>A (p.Ala518=) c.1044G>A (p.Ala348=) c.1500G>A (n.1500G>A) c.2898G>A (p.Ala966=) c.2880G>A (p.Ala960=)	gnomAD v4
22	g.50720734G>C	CA515260136	SHANK3	c.2502G>C (p.Ala834=) n.3086G>C c.1554G>C (p.Ala518=) c.1044G>C (p.Ala348=) c.1500G>C (n.1500G>C) c.2898G>C (p.Ala966=) c.2880G>C (p.Ala960=)	gnomAD v4
22	g.50720734G>T	CA515260137	SHANK3	c.2502G>T (p.Ala834=) n.3086G>T c.1554G>T (p.Ala518=) c.1044G>T (p.Ala348=) c.1500G>T (n.1500G>T) c.2898G>T (p.Ala966=) c.2880G>T (p.Ala960=)	gnomAD v4
22	g.50720735G>A	CA515260138	SHANK3	c.2503G>A (p.Ala835Thr) n.3087G>A c.1555G>A (p.Ala519Thr) c.1045G>A (p.Ala349Thr) c.1501G>A (n.1501G>A) c.2899G>A (p.Ala967Thr) c.2881G>A (p.Ala961Thr)	gnomAD v4
22	g.50720735G>C	CA515260139	SHANK3	c.2503G>C (p.Ala835Pro) n.3087G>C c.1555G>C (p.Ala519Pro) c.1045G>C (p.Ala349Pro) c.1501G>C (n.1501G>C) c.2899G>C (p.Ala967Pro) c.2881G>C (p.Ala961Pro)	gnomAD v4
22	g.50720735G=	CA2411007784	SHANK3	c.2503G= (p.Ala835=) n.3087G= c.1555G= (p.Ala519=) c.1045G= (p.Ala349=) c.1501G= (n.1501G=) c.2899G= (p.Ala967=) c.2881G= (p.Ala961=)
22	g.50720735G>T	CA515260140	SHANK3	c.2503G>T (p.Ala835Ser) n.3087G>T c.1555G>T (p.Ala519Ser) c.1045G>T (p.Ala349Ser) c.1501G>T (n.1501G>T) c.2899G>T (p.Ala967Ser) c.2881G>T (p.Ala961Ser)	gnomAD v4
22	g.50720736C>A	CA515260141	SHANK3	c.2504C>A (p.Ala835Asp) n.3088C>A c.1556C>A (p.Ala519Asp) c.1046C>A (p.Ala349Asp) c.1502C>A (n.1502C>A) c.2900C>A (p.Ala967Asp) c.2882C>A (p.Ala961Asp)	ClinVar dbSNP gnomAD v4
22	g.50720736C>G	CA515260142	SHANK3	c.2504C>G (p.Ala835Gly) n.3088C>G c.1556C>G (p.Ala519Gly) c.1046C>G (p.Ala349Gly) c.1502C>G (n.1502C>G) c.2900C>G (p.Ala967Gly) c.2882C>G (p.Ala961Gly)	gnomAD v4
22	g.50720736C>T	CA515260143	SHANK3	c.2504C>T (p.Ala835Val) n.3088C>T c.1556C>T (p.Ala519Val) c.1046C>T (p.Ala349Val) c.1502C>T (n.1502C>T) c.2900C>T (p.Ala967Val) c.2882C>T (p.Ala961Val)	gnomAD v4
22	g.50720738dup	CA640358966	SHANK3	c.2506dup (p.Leu836ProfsTer?) n.3090dup c.1558dup (p.Leu520ProfsTer?) c.1048dup (p.Leu350ProfsTer?) c.1504dup (n.1504dup) c.2902dup (p.Leu968ProfsTer?) c.2884dup (p.Leu962ProfsTer?)	dbSNP gnomAD v2
22	g.50720738del	CA2657583395	SHANK3	c.2506del (p.Leu836TrpfsTer?) n.3090del c.1558del (p.Leu520TrpfsTer?) c.1048del (p.Leu350TrpfsTer?) c.1504del (n.1504del) c.2902del (p.Leu968TrpfsTer?) c.2884del (p.Leu962TrpfsTer?)	gnomAD v4
22	g.50720737C>A	CA515260144	SHANK3	c.2505C>A (p.Ala835=) n.3089C>A c.1557C>A (p.Ala519=) c.1047C>A (p.Ala349=) c.1503C>A (n.1503C>A) c.2901C>A (p.Ala967=) c.2883C>A (p.Ala961=)	gnomAD v4
22	g.50720737C>G	CA515260145	SHANK3	c.2505C>G (p.Ala835=) n.3089C>G c.1557C>G (p.Ala519=) c.1047C>G (p.Ala349=) c.1503C>G (n.1503C>G) c.2901C>G (p.Ala967=) c.2883C>G (p.Ala961=)
22	g.50720737C>T	CA515260146	SHANK3	c.2505C>T (p.Ala835=) n.3089C>T c.1557C>T (p.Ala519=) c.1047C>T (p.Ala349=) c.1503C>T (n.1503C>T) c.2901C>T (p.Ala967=) c.2883C>T (p.Ala961=)	gnomAD v4
22	g.50720738C>A	CA515260147	SHANK3	c.2506C>A (p.Leu836Met) n.3090C>A c.1558C>A (p.Leu520Met) c.1048C>A (p.Leu350Met) c.1504C>A (n.1504C>A) c.2902C>A (p.Leu968Met) c.2884C>A (p.Leu962Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720738C=	CA2411007785	SHANK3	c.2506C= (p.Leu836=) n.3090C= c.1558C= (p.Leu520=) c.1048C= (p.Leu350=) c.1504C= (n.1504C=) c.2902C= (p.Leu968=) c.2884C= (p.Leu962=)
22	g.50720738C>G	CA515260149	SHANK3	c.2506C>G (p.Leu836Val) n.3090C>G c.1558C>G (p.Leu520Val) c.1048C>G (p.Leu350Val) c.1504C>G (n.1504C>G) c.2902C>G (p.Leu968Val) c.2884C>G (p.Leu962Val)	ClinVar
22	g.50720738C>T	CA515260148	SHANK3	c.2506C>T (p.Leu836=) n.3090C>T c.1558C>T (p.Leu520=) c.1048C>T (p.Leu350=) c.1504C>T (n.1504C>T) c.2902C>T (p.Leu968=) c.2884C>T (p.Leu962=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720738_50720741delinsCTGG	CA2411007786	SHANK3	c.2506_2509delinsCTGG (p.Leu836=) n.3090_3093delinsCTGG c.1558_1561delinsCTGG (p.Leu520=) c.1048_1051delinsCTGG (p.Leu350=) c.1504_1507delinsCTGG (n.1504_1507delinsCTGG) c.2902_2905delinsCTGG (p.Leu968=) c.2884_2887delinsCTGG (p.Leu962=)
22	g.50720739T>A	CA515260150	SHANK3	c.2507T>A (p.Leu836Gln) n.3091T>A c.1559T>A (p.Leu520Gln) c.1049T>A (p.Leu350Gln) c.1505T>A (n.1505T>A) c.2903T>A (p.Leu968Gln) c.2885T>A (p.Leu962Gln)	gnomAD v4
22	g.50720739T>C	CA515260151	SHANK3	c.2507T>C (p.Leu836Pro) n.3091T>C c.1559T>C (p.Leu520Pro) c.1049T>C (p.Leu350Pro) c.1505T>C (n.1505T>C) c.2903T>C (p.Leu968Pro) c.2885T>C (p.Leu962Pro)	gnomAD v4
22	g.50720739T>G	CA515260152	SHANK3	c.2507T>G (p.Leu836Arg) n.3091T>G c.1559T>G (p.Leu520Arg) c.1049T>G (p.Leu350Arg) c.1505T>G (n.1505T>G) c.2903T>G (p.Leu968Arg) c.2885T>G (p.Leu962Arg)	gnomAD v4
22	g.50720739T=	CA2411007787	SHANK3	c.2507T= (p.Leu836=) n.3091T= c.1559T= (p.Leu520=) c.1049T= (p.Leu350=) c.1505T= (n.1505T=) c.2903T= (p.Leu968=) c.2885T= (p.Leu962=)
22	g.50720739_50720741del	CA640358967	SHANK3	c.2507_2509del (p.Leu836_Ala837delinsPro) n.3091_3093del c.1559_1561del (p.Leu520_Ala521delinsPro) c.1049_1051del (p.Leu350_Ala351delinsPro) c.1505_1507del (n.1505_1507del) c.2903_2905del (p.Leu968_Ala969delinsPro) c.2885_2887del (p.Leu962_Ala963delinsPro)	dbSNP gnomAD v2
22	g.50720740G>A	CA515260153	SHANK3	c.2508G>A (p.Leu836=) n.3092G>A c.1560G>A (p.Leu520=) c.1050G>A (p.Leu350=) c.1506G>A (n.1506G>A) c.2904G>A (p.Leu968=) c.2886G>A (p.Leu962=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720740G>C	CA515260154	SHANK3	c.2508G>C (p.Leu836=) n.3092G>C c.1560G>C (p.Leu520=) c.1050G>C (p.Leu350=) c.1506G>C (n.1506G>C) c.2904G>C (p.Leu968=) c.2886G>C (p.Leu962=)	gnomAD v4
22	g.50720740G=	CA2411007788	SHANK3	c.2508G= (p.Leu836=) n.3092G= c.1560G= (p.Leu520=) c.1050G= (p.Leu350=) c.1506G= (n.1506G=) c.2904G= (p.Leu968=) c.2886G= (p.Leu962=)
22	g.50720740G>T	CA515260155	SHANK3	c.2508G>T (p.Leu836=) n.3092G>T c.1560G>T (p.Leu520=) c.1050G>T (p.Leu350=) c.1506G>T (n.1506G>T) c.2904G>T (p.Leu968=) c.2886G>T (p.Leu962=)	gnomAD v4
22	g.50720741del	CA2657583396	SHANK3	c.2509del (p.Ala837ProfsTer?) n.3093del c.1561del (p.Ala521ProfsTer?) c.1051del (p.Ala351ProfsTer?) c.1507del (n.1507del) c.2905del (p.Ala969ProfsTer?) c.2887del (p.Ala963ProfsTer?)	gnomAD v4
22	g.50720742_50720757dup	CA10581460	SHANK3	c.2510_2525dup (p.Pro843ArgfsTer?) n.3094_3109dup c.1562_1577dup (p.Pro527ArgfsTer?) c.1052_1067dup (p.Pro357ArgfsTer?) c.1508_1523dup (n.1508_1523dup) c.2906_2921dup (p.Pro975ArgfsTer?) c.2888_2903dup (p.Pro969ArgfsTer?)	ClinVar dbSNP
22	g.50720741G>A	CA515260156	SHANK3	c.2509G>A (p.Ala837Thr) n.3093G>A c.1561G>A (p.Ala521Thr) c.1051G>A (p.Ala351Thr) c.1507G>A (n.1507G>A) c.2905G>A (p.Ala969Thr) c.2887G>A (p.Ala963Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720741G>C	CA515260157	SHANK3	c.2509G>C (p.Ala837Pro) n.3093G>C c.1561G>C (p.Ala521Pro) c.1051G>C (p.Ala351Pro) c.1507G>C (n.1507G>C) c.2905G>C (p.Ala969Pro) c.2887G>C (p.Ala963Pro)	dbSNP gnomAD v3 gnomAD v4
22	g.50720741G=	CA2411007789	SHANK3	c.2509G= (p.Ala837=) n.3093G= c.1561G= (p.Ala521=) c.1051G= (p.Ala351=) c.1507G= (n.1507G=) c.2905G= (p.Ala969=) c.2887G= (p.Ala963=)
22	g.50720741G>T	CA10325937	SHANK3	c.2509G>T (p.Ala837Ser) n.3093G>T c.1561G>T (p.Ala521Ser) c.1051G>T (p.Ala351Ser) c.1507G>T (n.1507G>T) c.2905G>T (p.Ala969Ser) c.2887G>T (p.Ala963Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720742C>A	CA515260159	SHANK3	c.2510C>A (p.Ala837Asp) n.3094C>A c.1562C>A (p.Ala521Asp) c.1052C>A (p.Ala351Asp) c.1508C>A (n.1508C>A) c.2906C>A (p.Ala969Asp) c.2888C>A (p.Ala963Asp)	gnomAD v4
22	g.50720742C=	CA2411007790	SHANK3	c.2510C= (p.Ala837=) n.3094C= c.1562C= (p.Ala521=) c.1052C= (p.Ala351=) c.1508C= (n.1508C=) c.2906C= (p.Ala969=) c.2888C= (p.Ala963=)
22	g.50720742C>G	CA515260160	SHANK3	c.2510C>G (p.Ala837Gly) n.3094C>G c.1562C>G (p.Ala521Gly) c.1052C>G (p.Ala351Gly) c.1508C>G (n.1508C>G) c.2906C>G (p.Ala969Gly) c.2888C>G (p.Ala963Gly)	gnomAD v4
22	g.50720742C>T	CA515260158	SHANK3	c.2510C>T (p.Ala837Val) n.3094C>T c.1562C>T (p.Ala521Val) c.1052C>T (p.Ala351Val) c.1508C>T (n.1508C>T) c.2906C>T (p.Ala969Val) c.2888C>T (p.Ala963Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50720743C>A	CA515260161	SHANK3	c.2511C>A (p.Ala837=) n.3095C>A c.1563C>A (p.Ala521=) c.1053C>A (p.Ala351=) c.1509C>A (n.1509C>A) c.2907C>A (p.Ala969=) c.2889C>A (p.Ala963=)	dbSNP gnomAD v4
22	g.50720743C=	CA2411007791	SHANK3	c.2511C= (p.Ala837=) n.3095C= c.1563C= (p.Ala521=) c.1053C= (p.Ala351=) c.1509C= (n.1509C=) c.2907C= (p.Ala969=) c.2889C= (p.Ala963=)
22	g.50720743C>G	CA515260162	SHANK3	c.2511C>G (p.Ala837=) n.3095C>G c.1563C>G (p.Ala521=) c.1053C>G (p.Ala351=) c.1509C>G (n.1509C>G) c.2907C>G (p.Ala969=) c.2889C>G (p.Ala963=)	gnomAD v4
22	g.50720743C>T	CA325578267	SHANK3	c.2511C>T (p.Ala837=) n.3095C>T c.1563C>T (p.Ala521=) c.1053C>T (p.Ala351=) c.1509C>T (n.1509C>T) c.2907C>T (p.Ala969=) c.2889C>T (p.Ala963=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720744del	CA2657583397	SHANK3	c.2512del (p.Val838TrpfsTer?) n.3096del c.1564del (p.Val522TrpfsTer?) c.1054del (p.Val352TrpfsTer?) c.1510del (n.1510del) c.2908del (p.Val970TrpfsTer?) c.2890del (p.Val964TrpfsTer?)	gnomAD v4
22	g.50720744G>A	CA515260163	SHANK3	c.2512G>A (p.Val838Met) n.3096G>A c.1564G>A (p.Val522Met) c.1054G>A (p.Val352Met) c.1510G>A (n.1510G>A) c.2908G>A (p.Val970Met) c.2890G>A (p.Val964Met)	dbSNP gnomAD v3 gnomAD v4
22	g.50720744G>C	CA515260164	SHANK3	c.2512G>C (p.Val838Leu) n.3096G>C c.1564G>C (p.Val522Leu) c.1054G>C (p.Val352Leu) c.1510G>C (n.1510G>C) c.2908G>C (p.Val970Leu) c.2890G>C (p.Val964Leu)	gnomAD v4
22	g.50720744G=	CA2411007792	SHANK3	c.2512G= (p.Val838=) n.3096G= c.1564G= (p.Val522=) c.1054G= (p.Val352=) c.1510G= (n.1510G=) c.2908G= (p.Val970=) c.2890G= (p.Val964=)
22	g.50720744G>T	CA515260165	SHANK3	c.2512G>T (p.Val838Leu) n.3096G>T c.1564G>T (p.Val522Leu) c.1054G>T (p.Val352Leu) c.1510G>T (n.1510G>T) c.2908G>T (p.Val970Leu) c.2890G>T (p.Val964Leu)	gnomAD v4
22	g.50720745T>A	CA515260166	SHANK3	c.2513T>A (p.Val838Glu) n.3097T>A c.1565T>A (p.Val522Glu) c.1055T>A (p.Val352Glu) c.1511T>A (n.1511T>A) c.2909T>A (p.Val970Glu) c.2891T>A (p.Val964Glu)	gnomAD v4
22	g.50720745T>C	CA515260167	SHANK3	c.2513T>C (p.Val838Ala) n.3097T>C c.1565T>C (p.Val522Ala) c.1055T>C (p.Val352Ala) c.1511T>C (n.1511T>C) c.2909T>C (p.Val970Ala) c.2891T>C (p.Val964Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50720745T>G	CA515260168	SHANK3	c.2513T>G (p.Val838Gly) n.3097T>G c.1565T>G (p.Val522Gly) c.1055T>G (p.Val352Gly) c.1511T>G (n.1511T>G) c.2909T>G (p.Val970Gly) c.2891T>G (p.Val964Gly)
22	g.50720745T=	CA2411007793	SHANK3	c.2513T= (p.Val838=) n.3097T= c.1565T= (p.Val522=) c.1055T= (p.Val352=) c.1511T= (n.1511T=) c.2909T= (p.Val970=) c.2891T= (p.Val964=)
22	g.50720746G>A	CA515260169	SHANK3	c.2514G>A (p.Val838=) n.3098G>A c.1566G>A (p.Val522=) c.1056G>A (p.Val352=) c.1512G>A (n.1512G>A) c.2910G>A (p.Val970=) c.2892G>A (p.Val964=)	gnomAD v4
22	g.50720746G>C	CA515260170	SHANK3	c.2514G>C (p.Val838=) n.3098G>C c.1566G>C (p.Val522=) c.1056G>C (p.Val352=) c.1512G>C (n.1512G>C) c.2910G>C (p.Val970=) c.2892G>C (p.Val964=)	dbSNP gnomAD v4
22	g.50720746G=	CA2411007794	SHANK3	c.2514G= (p.Val838=) n.3098G= c.1566G= (p.Val522=) c.1056G= (p.Val352=) c.1512G= (n.1512G=) c.2910G= (p.Val970=) c.2892G= (p.Val964=)
22	g.50720746G>T	CA515260171	SHANK3	c.2514G>T (p.Val838=) n.3098G>T c.1566G>T (p.Val522=) c.1056G>T (p.Val352=) c.1512G>T (n.1512G>T) c.2910G>T (p.Val970=) c.2892G>T (p.Val964=)	gnomAD v4
22	g.50720748del	CA2657583398	SHANK3	c.2516del (p.Gly839AlafsTer?) n.3100del c.1568del (p.Gly523AlafsTer?) c.1058del (p.Gly353AlafsTer?) c.1514del (n.1514del) c.2912del (p.Gly971AlafsTer?) c.2894del (p.Gly965AlafsTer?)	gnomAD v4
22	g.50720747_50720748del	CA2819316001	SHANK3	c.2515_2516del (p.Gly839GlnfsTer?) n.3099_3100del c.1567_1568del (p.Gly523GlnfsTer?) c.1057_1058del (p.Gly353GlnfsTer?) c.1513_1514del (n.1513_1514del) c.2911_2912del (p.Gly971GlnfsTer?) c.2893_2894del (p.Gly965GlnfsTer?)
22	g.50720747G>A	CA515260174	SHANK3	c.2515G>A (p.Gly839Ser) n.3099G>A c.1567G>A (p.Gly523Ser) c.1057G>A (p.Gly353Ser) c.1513G>A (n.1513G>A) c.2911G>A (p.Gly971Ser) c.2893G>A (p.Gly965Ser)	gnomAD v4
22	g.50720747G>C	CA515260172	SHANK3	c.2515G>C (p.Gly839Arg) n.3099G>C c.1567G>C (p.Gly523Arg) c.1057G>C (p.Gly353Arg) c.1513G>C (n.1513G>C) c.2911G>C (p.Gly971Arg) c.2893G>C (p.Gly965Arg)	gnomAD v4
22	g.50720747G>T	CA515260173	SHANK3	c.2515G>T (p.Gly839Cys) n.3099G>T c.1567G>T (p.Gly523Cys) c.1057G>T (p.Gly353Cys) c.1513G>T (n.1513G>T) c.2911G>T (p.Gly971Cys) c.2893G>T (p.Gly965Cys)	gnomAD v4
22	g.50720748G>A	CA515260175	SHANK3	c.2516G>A (p.Gly839Asp) n.3100G>A c.1568G>A (p.Gly523Asp) c.1058G>A (p.Gly353Asp) c.1514G>A (n.1514G>A) c.2912G>A (p.Gly971Asp) c.2894G>A (p.Gly965Asp)	gnomAD v4
22	g.50720748G>C	CA515260176	SHANK3	c.2516G>C (p.Gly839Ala) n.3100G>C c.1568G>C (p.Gly523Ala) c.1058G>C (p.Gly353Ala) c.1514G>C (n.1514G>C) c.2912G>C (p.Gly971Ala) c.2894G>C (p.Gly965Ala)
22	g.50720748G>T	CA515260177	SHANK3	c.2516G>T (p.Gly839Val) n.3100G>T c.1568G>T (p.Gly523Val) c.1058G>T (p.Gly353Val) c.1514G>T (n.1514G>T) c.2912G>T (p.Gly971Val) c.2894G>T (p.Gly965Val)	gnomAD v4
22	g.50720749C>A	CA515260178	SHANK3	c.2517C>A (p.Gly839=) n.3101C>A c.1569C>A (p.Gly523=) c.1059C>A (p.Gly353=) c.1515C>A (n.1515C>A) c.2913C>A (p.Gly971=) c.2895C>A (p.Gly965=)	gnomAD v4
22	g.50720749C=	CA2411007795	SHANK3	c.2517C= (p.Gly839=) n.3101C= c.1569C= (p.Gly523=) c.1059C= (p.Gly353=) c.1515C= (n.1515C=) c.2913C= (p.Gly971=) c.2895C= (p.Gly965=)
22	g.50720749C>G	CA515260179	SHANK3	c.2517C>G (p.Gly839=) n.3101C>G c.1569C>G (p.Gly523=) c.1059C>G (p.Gly353=) c.1515C>G (n.1515C>G) c.2913C>G (p.Gly971=) c.2895C>G (p.Gly965=)	gnomAD v4
22	g.50720749C>T	CA515260180	SHANK3	c.2517C>T (p.Gly839=) n.3101C>T c.1569C>T (p.Gly523=) c.1059C>T (p.Gly353=) c.1515C>T (n.1515C>T) c.2913C>T (p.Gly971=) c.2895C>T (p.Gly965=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720750A>C	CA515260181	SHANK3	c.2518A>C (p.Ser840Arg) n.3102A>C c.1570A>C (p.Ser524Arg) c.1060A>C (p.Ser354Arg) c.1516A>C (n.1516A>C) c.2914A>C (p.Ser972Arg) c.2896A>C (p.Ser966Arg)	gnomAD v4
22	g.50720750A>G	CA515260182	SHANK3	c.2518A>G (p.Ser840Gly) n.3102A>G c.1570A>G (p.Ser524Gly) c.1060A>G (p.Ser354Gly) c.1516A>G (n.1516A>G) c.2914A>G (p.Ser972Gly) c.2896A>G (p.Ser966Gly)	gnomAD v4
22	g.50720750A>T	CA515260183	SHANK3	c.2518A>T (p.Ser840Cys) n.3102A>T c.1570A>T (p.Ser524Cys) c.1060A>T (p.Ser354Cys) c.1516A>T (n.1516A>T) c.2914A>T (p.Ser972Cys) c.2896A>T (p.Ser966Cys)	gnomAD v4
22	g.50720751G>A	CA515260184	SHANK3	c.2519G>A (p.Ser840Asn) n.3103G>A c.1571G>A (p.Ser524Asn) c.1061G>A (p.Ser354Asn) c.1517G>A (n.1517G>A) c.2915G>A (p.Ser972Asn) c.2897G>A (p.Ser966Asn)	gnomAD v4
22	g.50720751G>C	CA515260185	SHANK3	c.2519G>C (p.Ser840Thr) n.3103G>C c.1571G>C (p.Ser524Thr) c.1061G>C (p.Ser354Thr) c.1517G>C (n.1517G>C) c.2915G>C (p.Ser972Thr) c.2897G>C (p.Ser966Thr)	gnomAD v4
22	g.50720751G=	CA2411007796	SHANK3	c.2519G= (p.Ser840=) n.3103G= c.1571G= (p.Ser524=) c.1061G= (p.Ser354=) c.1517G= (n.1517G=) c.2915G= (p.Ser972=) c.2897G= (p.Ser966=)
22	g.50720751G>T	CA515260186	SHANK3	c.2519G>T (p.Ser840Ile) n.3103G>T c.1571G>T (p.Ser524Ile) c.1061G>T (p.Ser354Ile) c.1517G>T (n.1517G>T) c.2915G>T (p.Ser972Ile) c.2897G>T (p.Ser966Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720752C>A	CA515260187	SHANK3	c.2520C>A (p.Ser840Arg) n.3104C>A c.1572C>A (p.Ser524Arg) c.1062C>A (p.Ser354Arg) c.1518C>A (n.1518C>A) c.2916C>A (p.Ser972Arg) c.2898C>A (p.Ser966Arg)	gnomAD v4
22	g.50720752C=	CA2411007797	SHANK3	c.2520C= (p.Ser840=) n.3104C= c.1572C= (p.Ser524=) c.1062C= (p.Ser354=) c.1518C= (n.1518C=) c.2916C= (p.Ser972=) c.2898C= (p.Ser966=)
22	g.50720752C>G	CA515260188	SHANK3	c.2520C>G (p.Ser840Arg) n.3104C>G c.1572C>G (p.Ser524Arg) c.1062C>G (p.Ser354Arg) c.1518C>G (n.1518C>G) c.2916C>G (p.Ser972Arg) c.2898C>G (p.Ser966Arg)	gnomAD v4
22	g.50720752C>T	CA10325938	SHANK3	c.2520C>T (p.Ser840=) n.3104C>T c.1572C>T (p.Ser524=) c.1062C>T (p.Ser354=) c.1518C>T (n.1518C>T) c.2916C>T (p.Ser972=) c.2898C>T (p.Ser966=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720755del	CA2657583399	SHANK3	c.2523del (p.Gly842ValfsTer?) n.3107del c.1575del (p.Gly526ValfsTer?) c.1065del (p.Gly356ValfsTer?) c.1521del (n.1521del) c.2919del (p.Gly974ValfsTer?) c.2901del (p.Gly968ValfsTer?)	gnomAD v4
22	g.50720753C>A	CA515260190	SHANK3	c.2521C>A (p.Pro841Thr) n.3105C>A c.1573C>A (p.Pro525Thr) c.1063C>A (p.Pro355Thr) c.1519C>A (n.1519C>A) c.2917C>A (p.Pro973Thr) c.2899C>A (p.Pro967Thr)	gnomAD v4
22	g.50720753C=	CA2411007798	SHANK3	c.2521C= (p.Pro841=) n.3105C= c.1573C= (p.Pro525=) c.1063C= (p.Pro355=) c.1519C= (n.1519C=) c.2917C= (p.Pro973=) c.2899C= (p.Pro967=)
22	g.50720753C>G	CA515260189	SHANK3	c.2521C>G (p.Pro841Ala) n.3105C>G c.1573C>G (p.Pro525Ala) c.1063C>G (p.Pro355Ala) c.1519C>G (n.1519C>G) c.2917C>G (p.Pro973Ala) c.2899C>G (p.Pro967Ala)
22	g.50720753C>T	CA10325939	SHANK3	c.2521C>T (p.Pro841Ser) n.3105C>T c.1573C>T (p.Pro525Ser) c.1063C>T (p.Pro355Ser) c.1519C>T (n.1519C>T) c.2917C>T (p.Pro973Ser) c.2899C>T (p.Pro967Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720754C>A	CA515260191	SHANK3	c.2522C>A (p.Pro841His) n.3106C>A c.1574C>A (p.Pro525His) c.1064C>A (p.Pro355His) c.1520C>A (n.1520C>A) c.2918C>A (p.Pro973His) c.2900C>A (p.Pro967His)	gnomAD v4
22	g.50720754C=	CA2411007799	SHANK3	c.2522C= (p.Pro841=) n.3106C= c.1574C= (p.Pro525=) c.1064C= (p.Pro355=) c.1520C= (n.1520C=) c.2918C= (p.Pro973=) c.2900C= (p.Pro967=)
22	g.50720754C>G	CA515260192	SHANK3	c.2522C>G (p.Pro841Arg) n.3106C>G c.1574C>G (p.Pro525Arg) c.1064C>G (p.Pro355Arg) c.1520C>G (n.1520C>G) c.2918C>G (p.Pro973Arg) c.2900C>G (p.Pro967Arg)	gnomAD v4
22	g.50720754C>T	CA515260193	SHANK3	c.2522C>T (p.Pro841Leu) n.3106C>T c.1574C>T (p.Pro525Leu) c.1064C>T (p.Pro355Leu) c.1520C>T (n.1520C>T) c.2918C>T (p.Pro973Leu) c.2900C>T (p.Pro967Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720755C>A	CA515260196	SHANK3	c.2523C>A (p.Pro841=) n.3107C>A c.1575C>A (p.Pro525=) c.1065C>A (p.Pro355=) c.1521C>A (n.1521C>A) c.2919C>A (p.Pro973=) c.2901C>A (p.Pro967=)	gnomAD v4
22	g.50720755C=	CA2411007800	SHANK3	c.2523C= (p.Pro841=) n.3107C= c.1575C= (p.Pro525=) c.1065C= (p.Pro355=) c.1521C= (n.1521C=) c.2919C= (p.Pro973=) c.2901C= (p.Pro967=)
22	g.50720755C>G	CA515260195	SHANK3	c.2523C>G (p.Pro841=) n.3107C>G c.1575C>G (p.Pro525=) c.1065C>G (p.Pro355=) c.1521C>G (n.1521C>G) c.2919C>G (p.Pro973=) c.2901C>G (p.Pro967=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720755C>T	CA515260194	SHANK3	c.2523C>T (p.Pro841=) n.3107C>T c.1575C>T (p.Pro525=) c.1065C>T (p.Pro355=) c.1521C>T (n.1521C>T) c.2919C>T (p.Pro973=) c.2901C>T (p.Pro967=)	dbSNP gnomAD v4
22	g.50720755_50720756insT	CA2657583400	SHANK3	c.2523_2524insT (p.Gly842TrpfsTer?) n.3107_3108insT c.1575_1576insT (p.Gly526TrpfsTer?) c.1065_1066insT (p.Gly356TrpfsTer?) c.1521_1522insT (n.1521_1522insT) c.2919_2920insT (p.Gly974TrpfsTer?) c.2901_2902insT (p.Gly968TrpfsTer?)	gnomAD v4
22	g.50720756G>A	CA515260197	SHANK3	c.2524G>A (p.Gly842Ser) n.3108G>A c.1576G>A (p.Gly526Ser) c.1066G>A (p.Gly356Ser) c.1522G>A (n.1522G>A) c.2920G>A (p.Gly974Ser) c.2902G>A (p.Gly968Ser)	gnomAD v4
22	g.50720756G>C	CA515260198	SHANK3	c.2524G>C (p.Gly842Arg) n.3108G>C c.1576G>C (p.Gly526Arg) c.1066G>C (p.Gly356Arg) c.1522G>C (n.1522G>C) c.2920G>C (p.Gly974Arg) c.2902G>C (p.Gly968Arg)	gnomAD v4
22	g.50720756G>T	CA515260199	SHANK3	c.2524G>T (p.Gly842Cys) n.3108G>T c.1576G>T (p.Gly526Cys) c.1066G>T (p.Gly356Cys) c.1522G>T (n.1522G>T) c.2920G>T (p.Gly974Cys) c.2902G>T (p.Gly968Cys)	gnomAD v4
22	g.50720757G>A	CA515260200	SHANK3	c.2525G>A (p.Gly842Asp) n.3109G>A c.1577G>A (p.Gly526Asp) c.1067G>A (p.Gly356Asp) c.1523G>A (n.1523G>A) c.2921G>A (p.Gly974Asp) c.2903G>A (p.Gly968Asp)	dbSNP gnomAD v4
22	g.50720757G>C	CA515260201	SHANK3	c.2525G>C (p.Gly842Ala) n.3109G>C c.1577G>C (p.Gly526Ala) c.1067G>C (p.Gly356Ala) c.1523G>C (n.1523G>C) c.2921G>C (p.Gly974Ala) c.2903G>C (p.Gly968Ala)
22	g.50720757G=	CA2411007801	SHANK3	c.2525G= (p.Gly842=) n.3109G= c.1577G= (p.Gly526=) c.1067G= (p.Gly356=) c.1523G= (n.1523G=) c.2921G= (p.Gly974=) c.2903G= (p.Gly968=)
22	g.50720757G>T	CA515260202	SHANK3	c.2525G>T (p.Gly842Val) n.3109G>T c.1577G>T (p.Gly526Val) c.1067G>T (p.Gly356Val) c.1523G>T (n.1523G>T) c.2921G>T (p.Gly974Val) c.2903G>T (p.Gly968Val)	gnomAD v4
22	g.50720757_50720758delinsGT	CA2411007802	SHANK3	c.2525_2526delinsGT (p.Gly842=) n.3109_3110delinsGT c.1577_1578delinsGT (p.Gly526=) c.1067_1068delinsGT (p.Gly356=) c.1523_1524delinsGT (n.1523_1524delinsGT) c.2921_2922delinsGT (p.Gly974=) c.2903_2904delinsGT (p.Gly968=)
22	g.50720758del	CA2411007803	SHANK3	c.2526del (p.Gly844AlafsTer?) n.3110del c.1578del (p.Gly528AlafsTer?) c.1068del (p.Gly358AlafsTer?) c.1524del (n.1524del) c.2922del (p.Gly976AlafsTer?) c.2904del (p.Gly970AlafsTer?)	dbSNP
22	g.50720758T>A	CA515260205	SHANK3	c.2526T>A (p.Gly842=) n.3110T>A c.1578T>A (p.Gly526=) c.1068T>A (p.Gly356=) c.1524T>A (n.1524T>A) c.2922T>A (p.Gly974=) c.2904T>A (p.Gly968=)
22	g.50720758T>C	CA515260203	SHANK3	c.2526T>C (p.Gly842=) n.3110T>C c.1578T>C (p.Gly526=) c.1068T>C (p.Gly356=) c.1524T>C (n.1524T>C) c.2922T>C (p.Gly974=) c.2904T>C (p.Gly968=)	gnomAD v4
22	g.50720758T>G	CA515260204	SHANK3	c.2526T>G (p.Gly842=) n.3110T>G c.1578T>G (p.Gly526=) c.1068T>G (p.Gly356=) c.1524T>G (n.1524T>G) c.2922T>G (p.Gly974=) c.2904T>G (p.Gly968=)
22	g.50720758_50720759delinsTC	CA2411007804	SHANK3	c.2526_2527delinsTC (p.Gly842=) n.3110_3111delinsTC c.1578_1579delinsTC (p.Gly526=) c.1068_1069delinsTC (p.Gly356=) c.1524_1525delinsTC (n.1524_1525delinsTC) c.2922_2923delinsTC (p.Gly974=) c.2904_2905delinsTC (p.Gly968=)
22	g.50720759C>A	CA515260206	SHANK3	c.2527C>A (p.Pro843Thr) n.3111C>A c.1579C>A (p.Pro527Thr) c.1069C>A (p.Pro357Thr) c.1525C>A (n.1525C>A) c.2923C>A (p.Pro975Thr) c.2905C>A (p.Pro969Thr)	gnomAD v4
22	g.50720759C>G	CA515260207	SHANK3	c.2527C>G (p.Pro843Ala) n.3111C>G c.1579C>G (p.Pro527Ala) c.1069C>G (p.Pro357Ala) c.1525C>G (n.1525C>G) c.2923C>G (p.Pro975Ala) c.2905C>G (p.Pro969Ala)
22	g.50720759C>T	CA515260208	SHANK3	c.2527C>T (p.Pro843Ser) n.3111C>T c.1579C>T (p.Pro527Ser) c.1069C>T (p.Pro357Ser) c.1525C>T (n.1525C>T) c.2923C>T (p.Pro975Ser) c.2905C>T (p.Pro969Ser)	ClinVar dbSNP gnomAD v4
22	g.50720761del	CA10603523	SHANK3	c.2529del (p.Gly844AlafsTer?) n.3113del c.1581del (p.Gly528AlafsTer?) c.1071del (p.Gly358AlafsTer?) c.1527del (n.1527del) c.2925del (p.Gly976AlafsTer?) c.2907del (p.Gly970AlafsTer?)	ClinVar dbSNP gnomAD v4
22	g.50720760C>A	CA515260209	SHANK3	c.2528C>A (p.Pro843His) n.3112C>A c.1580C>A (p.Pro527His) c.1070C>A (p.Pro357His) c.1526C>A (n.1526C>A) c.2924C>A (p.Pro975His) c.2906C>A (p.Pro969His)	gnomAD v4
22	g.50720760C=	CA2411007805	SHANK3	c.2528C= (p.Pro843=) n.3112C= c.1580C= (p.Pro527=) c.1070C= (p.Pro357=) c.1526C= (n.1526C=) c.2924C= (p.Pro975=) c.2906C= (p.Pro969=)
22	g.50720760C>G	CA515260210	SHANK3	c.2528C>G (p.Pro843Arg) n.3112C>G c.1580C>G (p.Pro527Arg) c.1070C>G (p.Pro357Arg) c.1526C>G (n.1526C>G) c.2924C>G (p.Pro975Arg) c.2906C>G (p.Pro969Arg)	gnomAD v4
22	g.50720760C>T	CA515260211	SHANK3	c.2528C>T (p.Pro843Leu) n.3112C>T c.1580C>T (p.Pro527Leu) c.1070C>T (p.Pro357Leu) c.1526C>T (n.1526C>T) c.2924C>T (p.Pro975Leu) c.2906C>T (p.Pro969Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720761C>A	CA515260212	SHANK3	c.2529C>A (p.Pro843=) n.3113C>A c.1581C>A (p.Pro527=) c.1071C>A (p.Pro357=) c.1527C>A (n.1527C>A) c.2925C>A (p.Pro975=) c.2907C>A (p.Pro969=)	ClinVar dbSNP gnomAD v4
22	g.50720761C=	CA2411007806	SHANK3	c.2529C= (p.Pro843=) n.3113C= c.1581C= (p.Pro527=) c.1071C= (p.Pro357=) c.1527C= (n.1527C=) c.2925C= (p.Pro975=) c.2907C= (p.Pro969=)
22	g.50720761C>G	CA515260213	SHANK3	c.2529C>G (p.Pro843=) n.3113C>G c.1581C>G (p.Pro527=) c.1071C>G (p.Pro357=) c.1527C>G (n.1527C>G) c.2925C>G (p.Pro975=) c.2907C>G (p.Pro969=)	gnomAD v4
22	g.50720761C>T	CA515260214	SHANK3	c.2529C>T (p.Pro843=) n.3113C>T c.1581C>T (p.Pro527=) c.1071C>T (p.Pro357=) c.1527C>T (n.1527C>T) c.2925C>T (p.Pro975=) c.2907C>T (p.Pro969=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720768_50720770dup	CA2577768680	SHANK3	c.2536_2538dup (p.Gly846_Ser847insGly) n.3120_3122dup c.1588_1590dup (p.Gly530_Ser531insGly) c.1078_1080dup (p.Gly360_Ser361insGly) c.1534_1536dup (n.1534_1536dup) c.2932_2934dup (p.Gly978_Ser979insGly) c.2914_2916dup (p.Gly972_Ser973insGly)	gnomAD v4
22	g.50720768_50720770del	CA640358968	SHANK3	c.2536_2538del (p.Gly846del) n.3120_3122del c.1588_1590del (p.Gly530del) c.1078_1080del (p.Gly360del) c.1534_1536del (n.1534_1536del) c.2932_2934del (p.Gly978del) c.2914_2916del (p.Gly972del)	gnomAD v2 gnomAD v4
22	g.50720762G>A	CA515260215	SHANK3	c.2530G>A (p.Gly844Ser) n.3114G>A c.1582G>A (p.Gly528Ser) c.1072G>A (p.Gly358Ser) c.1528G>A (n.1528G>A) c.2926G>A (p.Gly976Ser) c.2908G>A (p.Gly970Ser)	gnomAD v4
22	g.50720762G>C	CA515260216	SHANK3	c.2530G>C (p.Gly844Arg) n.3114G>C c.1582G>C (p.Gly528Arg) c.1072G>C (p.Gly358Arg) c.1528G>C (n.1528G>C) c.2926G>C (p.Gly976Arg) c.2908G>C (p.Gly970Arg)	gnomAD v4
22	g.50720762G>T	CA515260217	SHANK3	c.2530G>T (p.Gly844Cys) n.3114G>T c.1582G>T (p.Gly528Cys) c.1072G>T (p.Gly358Cys) c.1528G>T (n.1528G>T) c.2926G>T (p.Gly976Cys) c.2908G>T (p.Gly970Cys)	gnomAD v4
22	g.50720763G>A	CA515260218	SHANK3	c.2531G>A (p.Gly844Asp) n.3115G>A c.1583G>A (p.Gly528Asp) c.1073G>A (p.Gly358Asp) c.1529G>A (n.1529G>A) c.2927G>A (p.Gly976Asp) c.2909G>A (p.Gly970Asp)	gnomAD v4
22	g.50720763G>C	CA515260220	SHANK3	c.2531G>C (p.Gly844Ala) n.3115G>C c.1583G>C (p.Gly528Ala) c.1073G>C (p.Gly358Ala) c.1529G>C (n.1529G>C) c.2927G>C (p.Gly976Ala) c.2909G>C (p.Gly970Ala)	gnomAD v4
22	g.50720763G>T	CA515260219	SHANK3	c.2531G>T (p.Gly844Val) n.3115G>T c.1583G>T (p.Gly528Val) c.1073G>T (p.Gly358Val) c.1529G>T (n.1529G>T) c.2927G>T (p.Gly976Val) c.2909G>T (p.Gly970Val)	gnomAD v4
22	g.50720764del	CA2657583401	SHANK3	c.2532del (p.Gly845AlafsTer?) n.3116del c.1584del (p.Gly529AlafsTer?) c.1074del (p.Gly359AlafsTer?) c.1530del (n.1530del) c.2928del (p.Gly977AlafsTer?) c.2910del (p.Gly971AlafsTer?)	gnomAD v4
22	g.50720764C>A	CA515260221	SHANK3	c.2532C>A (p.Gly844=) n.3116C>A c.1584C>A (p.Gly528=) c.1074C>A (p.Gly358=) c.1530C>A (n.1530C>A) c.2928C>A (p.Gly976=) c.2910C>A (p.Gly970=)	gnomAD v4
22	g.50720764C=	CA2411007807	SHANK3	c.2532C= (p.Gly844=) n.3116C= c.1584C= (p.Gly528=) c.1074C= (p.Gly358=) c.1530C= (n.1530C=) c.2928C= (p.Gly976=) c.2910C= (p.Gly970=)
22	g.50720764C>G	CA515260222	SHANK3	c.2532C>G (p.Gly844=) n.3116C>G c.1584C>G (p.Gly528=) c.1074C>G (p.Gly358=) c.1530C>G (n.1530C>G) c.2928C>G (p.Gly976=) c.2910C>G (p.Gly970=)	gnomAD v4
22	g.50720764C>T	CA515260223	SHANK3	c.2532C>T (p.Gly844=) n.3116C>T c.1584C>T (p.Gly528=) c.1074C>T (p.Gly358=) c.1530C>T (n.1530C>T) c.2928C>T (p.Gly976=) c.2910C>T (p.Gly970=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720765G>A	CA515260224	SHANK3	c.2533G>A (p.Gly845Ser) n.3117G>A c.1585G>A (p.Gly529Ser) c.1075G>A (p.Gly359Ser) c.1531G>A (n.1531G>A) c.2929G>A (p.Gly977Ser) c.2911G>A (p.Gly971Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50720765G>C	CA515260225	SHANK3	c.2533G>C (p.Gly845Arg) n.3117G>C c.1585G>C (p.Gly529Arg) c.1075G>C (p.Gly359Arg) c.1531G>C (n.1531G>C) c.2929G>C (p.Gly977Arg) c.2911G>C (p.Gly971Arg)	gnomAD v4
22	g.50720765G=	CA2411007808	SHANK3	c.2533G= (p.Gly845=) n.3117G= c.1585G= (p.Gly529=) c.1075G= (p.Gly359=) c.1531G= (n.1531G=) c.2929G= (p.Gly977=) c.2911G= (p.Gly971=)
22	g.50720765G>T	CA515260226	SHANK3	c.2533G>T (p.Gly845Cys) n.3117G>T c.1585G>T (p.Gly529Cys) c.1075G>T (p.Gly359Cys) c.1531G>T (n.1531G>T) c.2929G>T (p.Gly977Cys) c.2911G>T (p.Gly971Cys)	gnomAD v4
22	g.50720766dup	CA2411007809	SHANK3	c.2534dup (p.Gly846ArgfsTer?) n.3118dup c.1586dup (p.Gly530ArgfsTer?) c.1076dup (p.Gly360ArgfsTer?) c.1532dup (n.1532dup) c.2930dup (p.Gly978ArgfsTer?) c.2912dup (p.Gly972ArgfsTer?)	dbSNP
22	g.50720766G>A	CA515260227	SHANK3	c.2534G>A (p.Gly845Asp) n.3118G>A c.1586G>A (p.Gly529Asp) c.1076G>A (p.Gly359Asp) c.1532G>A (n.1532G>A) c.2930G>A (p.Gly977Asp) c.2912G>A (p.Gly971Asp)	gnomAD v4
22	g.50720766G>C	CA515260228	SHANK3	c.2534G>C (p.Gly845Ala) n.3118G>C c.1586G>C (p.Gly529Ala) c.1076G>C (p.Gly359Ala) c.1532G>C (n.1532G>C) c.2930G>C (p.Gly977Ala) c.2912G>C (p.Gly971Ala)
22	g.50720766G>T	CA515260229	SHANK3	c.2534G>T (p.Gly845Val) n.3118G>T c.1586G>T (p.Gly529Val) c.1076G>T (p.Gly359Val) c.1532G>T (n.1532G>T) c.2930G>T (p.Gly977Val) c.2912G>T (p.Gly971Val)	gnomAD v4
22	g.50720767del	CA2657583402	SHANK3	c.2535del (p.Gly846AlafsTer?) n.3119del c.1587del (p.Gly530AlafsTer?) c.1077del (p.Gly360AlafsTer?) c.1533del (n.1533del) c.2931del (p.Gly978AlafsTer?) c.2913del (p.Gly972AlafsTer?)	gnomAD v4
22	g.50720767C>A	CA515260230	SHANK3	c.2535C>A (p.Gly845=) n.3119C>A c.1587C>A (p.Gly529=) c.1077C>A (p.Gly359=) c.1533C>A (n.1533C>A) c.2931C>A (p.Gly977=) c.2913C>A (p.Gly971=)	gnomAD v4
22	g.50720767C=	CA2411007810	SHANK3	c.2535C= (p.Gly845=) n.3119C= c.1587C= (p.Gly529=) c.1077C= (p.Gly359=) c.1533C= (n.1533C=) c.2931C= (p.Gly977=) c.2913C= (p.Gly971=)
22	g.50720767C>G	CA515260231	SHANK3	c.2535C>G (p.Gly845=) n.3119C>G c.1587C>G (p.Gly529=) c.1077C>G (p.Gly359=) c.1533C>G (n.1533C>G) c.2931C>G (p.Gly977=) c.2913C>G (p.Gly971=)	dbSNP
22	g.50720767C>T	CA515260232	SHANK3	c.2535C>T (p.Gly845=) n.3119C>T c.1587C>T (p.Gly529=) c.1077C>T (p.Gly359=) c.1533C>T (n.1533C>T) c.2931C>T (p.Gly977=) c.2913C>T (p.Gly971=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720767_50720787delinsGGCAG	CA2580099958	SHANK3	c.2535_2555delinsGGCAG (p.Gly846AlafsTer?) n.3119_3139delinsGGCAG c.1587_1607delinsGGCAG (p.Gly530AlafsTer?) c.1077_1097delinsGGCAG (p.Gly360AlafsTer?) c.1533_1553delinsGGCAG (n.1533_1553delinsGGCAG) c.2931_2951delinsGGCAG (p.Gly978AlafsTer?) c.2913_2933delinsGGCAG (p.Gly972AlafsTer?)	ClinVar dbSNP
22	g.50720768G>A	CA515260236	SHANK3	c.2536G>A (p.Gly846Ser) n.3120G>A c.1588G>A (p.Gly530Ser) c.1078G>A (p.Gly360Ser) c.1534G>A (n.1534G>A) c.2932G>A (p.Gly978Ser) c.2914G>A (p.Gly972Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720768G>C	CA515260235	SHANK3	c.2536G>C (p.Gly846Arg) n.3120G>C c.1588G>C (p.Gly530Arg) c.1078G>C (p.Gly360Arg) c.1534G>C (n.1534G>C) c.2932G>C (p.Gly978Arg) c.2914G>C (p.Gly972Arg)	gnomAD v4
22	g.50720768G=	CA2411007812	SHANK3	c.2536G= (p.Gly846=) n.3120G= c.1588G= (p.Gly530=) c.1078G= (p.Gly360=) c.1534G= (n.1534G=) c.2932G= (p.Gly978=) c.2914G= (p.Gly972=)
22	g.50720768G>T	CA515260233	SHANK3	c.2536G>T (p.Gly846Cys) n.3120G>T c.1588G>T (p.Gly530Cys) c.1078G>T (p.Gly360Cys) c.1534G>T (n.1534G>T) c.2932G>T (p.Gly978Cys) c.2914G>T (p.Gly972Cys)	gnomAD v4
22	g.50720768_50720771delinsGGCA	CA2411007811	SHANK3	c.2536_2539delinsGGCA (p.Gly846=) n.3120_3123delinsGGCA c.1588_1591delinsGGCA (p.Gly530=) c.1078_1081delinsGGCA (p.Gly360=) c.1534_1537delinsGGCA (n.1534_1537delinsGGCA) c.2932_2935delinsGGCA (p.Gly978=) c.2914_2917delinsGGCA (p.Gly972=)
22	g.50720769G>A	CA515260237	SHANK3	c.2537G>A (p.Gly846Asp) n.3121G>A c.1589G>A (p.Gly530Asp) c.1079G>A (p.Gly360Asp) c.1535G>A (n.1535G>A) c.2933G>A (p.Gly978Asp) c.2915G>A (p.Gly972Asp)	dbSNP gnomAD v2 gnomAD v4
22	g.50720769G>C	CA515260238	SHANK3	c.2537G>C (p.Gly846Ala) n.3121G>C c.1589G>C (p.Gly530Ala) c.1079G>C (p.Gly360Ala) c.1535G>C (n.1535G>C) c.2933G>C (p.Gly978Ala) c.2915G>C (p.Gly972Ala)	gnomAD v4
22	g.50720769G=	CA2411007813	SHANK3	c.2537G= (p.Gly846=) n.3121G= c.1589G= (p.Gly530=) c.1079G= (p.Gly360=) c.1535G= (n.1535G=) c.2933G= (p.Gly978=) c.2915G= (p.Gly972=)
22	g.50720769G>T	CA515260239	SHANK3	c.2537G>T (p.Gly846Val) n.3121G>T c.1589G>T (p.Gly530Val) c.1079G>T (p.Gly360Val) c.1535G>T (n.1535G>T) c.2933G>T (p.Gly978Val) c.2915G>T (p.Gly972Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50720769_50720773delinsGCAGC	CA2411007814	SHANK3	c.2537_2541delinsGCAGC (p.Gly846=) n.3121_3125delinsGCAGC c.1589_1593delinsGCAGC (p.Gly530=) c.1079_1083delinsGCAGC (p.Gly360=) c.1535_1539delinsGCAGC (n.1535_1539delinsGCAGC) c.2933_2937delinsGCAGC (p.Gly978=) c.2915_2919delinsGCAGC (p.Gly972=)
22	g.50720771_50720773dup	CA2657583403	SHANK3	c.2539_2541dup (p.Ser847_Phe848insSer) n.3123_3125dup c.1591_1593dup (p.Ser531_Phe532insSer) c.1081_1083dup (p.Ser361_Phe362insSer) c.1537_1539dup (n.1537_1539dup) c.2935_2937dup (p.Ser979_Phe980insSer) c.2917_2919dup (p.Ser973_Phe974insSer)	gnomAD v4
22	g.50720771_50720773del	CA754092984	SHANK3	c.2539_2541del (p.Ser847del) n.3123_3125del c.1591_1593del (p.Ser531del) c.1081_1083del (p.Ser361del) c.1537_1539del (n.1537_1539del) c.2935_2937del (p.Ser979del) c.2917_2919del (p.Ser973del)	dbSNP gnomAD v3 gnomAD v4
22	g.50720770C>A	CA515260240	SHANK3	c.2538C>A (p.Gly846=) n.3122C>A c.1590C>A (p.Gly530=) c.1080C>A (p.Gly360=) c.1536C>A (n.1536C>A) c.2934C>A (p.Gly978=) c.2916C>A (p.Gly972=)	gnomAD v4
22	g.50720770C=	CA2411007815	SHANK3	c.2538C= (p.Gly846=) n.3122C= c.1590C= (p.Gly530=) c.1080C= (p.Gly360=) c.1536C= (n.1536C=) c.2934C= (p.Gly978=) c.2916C= (p.Gly972=)
22	g.50720770C>G	CA515260241	SHANK3	c.2538C>G (p.Gly846=) n.3122C>G c.1590C>G (p.Gly530=) c.1080C>G (p.Gly360=) c.1536C>G (n.1536C>G) c.2934C>G (p.Gly978=) c.2916C>G (p.Gly972=)	gnomAD v4
22	g.50720770C>T	CA515260242	SHANK3	c.2538C>T (p.Gly846=) n.3122C>T c.1590C>T (p.Gly530=) c.1080C>T (p.Gly360=) c.1536C>T (n.1536C>T) c.2934C>T (p.Gly978=) c.2916C>T (p.Gly972=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720770_50720773del	CA1139667200	SHANK3	c.2538_2541del (p.Phe848ProfsTer?) n.3122_3125del c.1590_1593del (p.Phe532ProfsTer?) c.1080_1083del (p.Phe362ProfsTer?) c.1536_1539del (n.1536_1539del) c.2934_2937del (p.Phe980ProfsTer?) c.2916_2919del (p.Phe974ProfsTer?)	ClinVar dbSNP
22	g.50720771A=	CA2411007816	SHANK3	c.2539A= (p.Ser847=) n.3123A= c.1591A= (p.Ser531=) c.1081A= (p.Ser361=) c.1537A= (n.1537A=) c.2935A= (p.Ser979=) c.2917A= (p.Ser973=)
22	g.50720771A>C	CA515260243	SHANK3	c.2539A>C (p.Ser847Arg) n.3123A>C c.1591A>C (p.Ser531Arg) c.1081A>C (p.Ser361Arg) c.1537A>C (n.1537A>C) c.2935A>C (p.Ser979Arg) c.2917A>C (p.Ser973Arg)	gnomAD v4
22	g.50720771A>G	CA10325940	SHANK3	c.2539A>G (p.Ser847Gly) n.3123A>G c.1591A>G (p.Ser531Gly) c.1081A>G (p.Ser361Gly) c.1537A>G (n.1537A>G) c.2935A>G (p.Ser979Gly) c.2917A>G (p.Ser973Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720771A>T	CA515260245	SHANK3	c.2539A>T (p.Ser847Cys) n.3123A>T c.1591A>T (p.Ser531Cys) c.1081A>T (p.Ser361Cys) c.1537A>T (n.1537A>T) c.2935A>T (p.Ser979Cys) c.2917A>T (p.Ser973Cys)
22	g.50720772G>A	CA515260246	SHANK3	c.2540G>A (p.Ser847Asn) n.3124G>A c.1592G>A (p.Ser531Asn) c.1082G>A (p.Ser361Asn) c.1538G>A (n.1538G>A) c.2936G>A (p.Ser979Asn) c.2918G>A (p.Ser973Asn)	gnomAD v4
22	g.50720772G>C	CA515260247	SHANK3	c.2540G>C (p.Ser847Thr) n.3124G>C c.1592G>C (p.Ser531Thr) c.1082G>C (p.Ser361Thr) c.1538G>C (n.1538G>C) c.2936G>C (p.Ser979Thr) c.2918G>C (p.Ser973Thr)	gnomAD v4
22	g.50720772G>T	CA515260248	SHANK3	c.2540G>T (p.Ser847Ile) n.3124G>T c.1592G>T (p.Ser531Ile) c.1082G>T (p.Ser361Ile) c.1538G>T (n.1538G>T) c.2936G>T (p.Ser979Ile) c.2918G>T (p.Ser973Ile)	gnomAD v4
22	g.50720773C>A	CA515260251	SHANK3	c.2541C>A (p.Ser847Arg) n.3125C>A c.1593C>A (p.Ser531Arg) c.1083C>A (p.Ser361Arg) c.1539C>A (n.1539C>A) c.2937C>A (p.Ser979Arg) c.2919C>A (p.Ser973Arg)	gnomAD v4
22	g.50720773C=	CA2411007817	SHANK3	c.2541C= (p.Ser847=) n.3125C= c.1593C= (p.Ser531=) c.1083C= (p.Ser361=) c.1539C= (n.1539C=) c.2937C= (p.Ser979=) c.2919C= (p.Ser973=)
22	g.50720773C>G	CA515260250	SHANK3	c.2541C>G (p.Ser847Arg) n.3125C>G c.1593C>G (p.Ser531Arg) c.1083C>G (p.Ser361Arg) c.1539C>G (n.1539C>G) c.2937C>G (p.Ser979Arg) c.2919C>G (p.Ser973Arg)	gnomAD v4
22	g.50720773C>T	CA515260249	SHANK3	c.2541C>T (p.Ser847=) n.3125C>T c.1593C>T (p.Ser531=) c.1083C>T (p.Ser361=) c.1539C>T (n.1539C>T) c.2937C>T (p.Ser979=) c.2919C>T (p.Ser973=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720774T>A	CA515260252	SHANK3	c.2542T>A (p.Phe848Ile) n.3126T>A c.1594T>A (p.Phe532Ile) c.1084T>A (p.Phe362Ile) c.1540T>A (n.1540T>A) c.2938T>A (p.Phe980Ile) c.2920T>A (p.Phe974Ile)	gnomAD v4
22	g.50720774T>C	CA515260253	SHANK3	c.2542T>C (p.Phe848Leu) n.3126T>C c.1594T>C (p.Phe532Leu) c.1084T>C (p.Phe362Leu) c.1540T>C (n.1540T>C) c.2938T>C (p.Phe980Leu) c.2920T>C (p.Phe974Leu)	gnomAD v4
22	g.50720774T>G	CA515260254	SHANK3	c.2542T>G (p.Phe848Val) n.3126T>G c.1594T>G (p.Phe532Val) c.1084T>G (p.Phe362Val) c.1540T>G (n.1540T>G) c.2938T>G (p.Phe980Val) c.2920T>G (p.Phe974Val)
22	g.50720775T>A	CA515260255	SHANK3	c.2543T>A (p.Phe848Tyr) n.3127T>A c.1595T>A (p.Phe532Tyr) c.1085T>A (p.Phe362Tyr) c.1541T>A (n.1541T>A) c.2939T>A (p.Phe980Tyr) c.2921T>A (p.Phe974Tyr)
22	g.50720775T>C	CA515260256	SHANK3	c.2543T>C (p.Phe848Ser) n.3127T>C c.1595T>C (p.Phe532Ser) c.1085T>C (p.Phe362Ser) c.1541T>C (n.1541T>C) c.2939T>C (p.Phe980Ser) c.2921T>C (p.Phe974Ser)	gnomAD v4
22	g.50720775T>G	CA515260257	SHANK3	c.2543T>G (p.Phe848Cys) n.3127T>G c.1595T>G (p.Phe532Cys) c.1085T>G (p.Phe362Cys) c.1541T>G (n.1541T>G) c.2939T>G (p.Phe980Cys) c.2921T>G (p.Phe974Cys)
22	g.50720776C>A	CA515260260	SHANK3	c.2544C>A (p.Phe848Leu) n.3128C>A c.1596C>A (p.Phe532Leu) c.1086C>A (p.Phe362Leu) c.1542C>A (n.1542C>A) c.2940C>A (p.Phe980Leu) c.2922C>A (p.Phe974Leu)	gnomAD v4
22	g.50720776C=	CA2411007818	SHANK3	c.2544C= (p.Phe848=) n.3128C= c.1596C= (p.Phe532=) c.1086C= (p.Phe362=) c.1542C= (n.1542C=) c.2940C= (p.Phe980=) c.2922C= (p.Phe974=)
22	g.50720776C>G	CA515260259	SHANK3	c.2544C>G (p.Phe848Leu) n.3128C>G c.1596C>G (p.Phe532Leu) c.1086C>G (p.Phe362Leu) c.1542C>G (n.1542C>G) c.2940C>G (p.Phe980Leu) c.2922C>G (p.Phe974Leu)	gnomAD v4
22	g.50720776C>T	CA515260258	SHANK3	c.2544C>T (p.Phe848=) n.3128C>T c.1596C>T (p.Phe532=) c.1086C>T (p.Phe362=) c.1542C>T (n.1542C>T) c.2940C>T (p.Phe980=) c.2922C>T (p.Phe974=)	dbSNP gnomAD v4
22	g.50720779_50720782del	CA891842416	SHANK3	c.2547_2550del (p.Arg850SerfsTer?) n.3131_3134del c.1599_1602del (p.Arg534SerfsTer?) c.1089_1092del (p.Arg364SerfsTer?) c.1545_1548del (n.1545_1548del) c.2943_2946del (p.Arg982SerfsTer?) c.2925_2928del (p.Arg976SerfsTer?)
22	g.50720782_50720815del	CA2819316027	SHANK3	c.2550_2583del (p.Glu851ValfsTer?) n.3134_3167del c.1602_1635del (p.Glu535ValfsTer?) c.1092_1125del (p.Glu365ValfsTer?) c.1548_1581del (n.1548_1581del) c.2946_2979del (p.Glu983ValfsTer?) c.2928_2961del (p.Glu977ValfsTer?)
22	g.50720777G>A	CA515260261	SHANK3	c.2545G>A (p.Ala849Thr) n.3129G>A c.1597G>A (p.Ala533Thr) c.1087G>A (p.Ala363Thr) c.1543G>A (n.1543G>A) c.2941G>A (p.Ala981Thr) c.2923G>A (p.Ala975Thr)	dbSNP gnomAD v3 gnomAD v4
22	g.50720777G>C	CA515260262	SHANK3	c.2545G>C (p.Ala849Pro) n.3129G>C c.1597G>C (p.Ala533Pro) c.1087G>C (p.Ala363Pro) c.1543G>C (n.1543G>C) c.2941G>C (p.Ala981Pro) c.2923G>C (p.Ala975Pro)	gnomAD v4
22	g.50720777G=	CA2411007819	SHANK3	c.2545G= (p.Ala849=) n.3129G= c.1597G= (p.Ala533=) c.1087G= (p.Ala363=) c.1543G= (n.1543G=) c.2941G= (p.Ala981=) c.2923G= (p.Ala975=)
22	g.50720777G>T	CA515260263	SHANK3	c.2545G>T (p.Ala849Ser) n.3129G>T c.1597G>T (p.Ala533Ser) c.1087G>T (p.Ala363Ser) c.1543G>T (n.1543G>T) c.2941G>T (p.Ala981Ser) c.2923G>T (p.Ala975Ser)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched