Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.70473101A>C	CA381675501	SHANK2	c.3551T>G (p.Ile1184Ser) c.1096T>G (n.1096T>G) c.5318T>G (p.Ile1773Ser) c.2827T>G c.4181T>G (p.Ile1394Ser) c.3608T>G (p.Ile1203Ser) c.3554T>G (p.Ile1185Ser) c.322T>G (n.322T>G) c.3530T>G (p.Ile1177Ser) c.1094T>G c.3155T>G (p.Ile1052Ser) n.2070T>G n.1172T>G c.5288T>G (p.Ile1763Ser) c.5330T>G (p.Ile1777Ser) c.5309T>G (p.Ile1770Ser) c.5303T>G (p.Ile1768Ser) c.5282T>G (p.Ile1761Ser) c.4193T>G (p.Ile1398Ser) c.5291T>G (p.Ile1764Ser) n.1173T>G
11	g.70473101A>G	CA381675502	SHANK2	c.3551T>C (p.Ile1184Thr) c.1096T>C (n.1096T>C) c.5318T>C (p.Ile1773Thr) c.2827T>C c.4181T>C (p.Ile1394Thr) c.3608T>C (p.Ile1203Thr) c.3554T>C (p.Ile1185Thr) c.322T>C (n.322T>C) c.3530T>C (p.Ile1177Thr) c.1094T>C c.3155T>C (p.Ile1052Thr) n.2070T>C n.1172T>C c.5288T>C (p.Ile1763Thr) c.5330T>C (p.Ile1777Thr) c.5309T>C (p.Ile1770Thr) c.5303T>C (p.Ile1768Thr) c.5282T>C (p.Ile1761Thr) c.4193T>C (p.Ile1398Thr) c.5291T>C (p.Ile1764Thr) n.1173T>C
11	g.70473101A>T	CA381675503	SHANK2	c.3551T>A (p.Ile1184Asn) c.1096T>A (n.1096T>A) c.5318T>A (p.Ile1773Asn) c.2827T>A c.4181T>A (p.Ile1394Asn) c.3608T>A (p.Ile1203Asn) c.3554T>A (p.Ile1185Asn) c.322T>A (n.322T>A) c.3530T>A (p.Ile1177Asn) c.1094T>A c.3155T>A (p.Ile1052Asn) n.2070T>A n.1172T>A c.5288T>A (p.Ile1763Asn) c.5330T>A (p.Ile1777Asn) c.5309T>A (p.Ile1770Asn) c.5303T>A (p.Ile1768Asn) c.5282T>A (p.Ile1761Asn) c.4193T>A (p.Ile1398Asn) c.5291T>A (p.Ile1764Asn) n.1173T>A
11	g.70473102T>A	CA381675506	SHANK2	c.3550A>T (p.Ile1184Phe) c.1095A>T (n.1095A>T) c.5317A>T (p.Ile1773Phe) c.2826A>T c.4180A>T (p.Ile1394Phe) c.3607A>T (p.Ile1203Phe) c.3553A>T (p.Ile1185Phe) c.321A>T (n.321A>T) c.3529A>T (p.Ile1177Phe) c.1093A>T c.3154A>T (p.Ile1052Phe) n.2069A>T n.1171A>T c.5287A>T (p.Ile1763Phe) c.5329A>T (p.Ile1777Phe) c.5308A>T (p.Ile1770Phe) c.5302A>T (p.Ile1768Phe) c.5281A>T (p.Ile1761Phe) c.4192A>T (p.Ile1398Phe) c.5290A>T (p.Ile1764Phe) n.1172A>T
11	g.70473102T>C	CA6160718	SHANK2	c.3550A>G (p.Ile1184Val) c.1095A>G (n.1095A>G) c.5317A>G (p.Ile1773Val) c.2826A>G c.4180A>G (p.Ile1394Val) c.3607A>G (p.Ile1203Val) c.3553A>G (p.Ile1185Val) c.321A>G (n.321A>G) c.3529A>G (p.Ile1177Val) c.1093A>G c.3154A>G (p.Ile1052Val) n.2069A>G n.1171A>G c.5287A>G (p.Ile1763Val) c.5329A>G (p.Ile1777Val) c.5308A>G (p.Ile1770Val) c.5302A>G (p.Ile1768Val) c.5281A>G (p.Ile1761Val) c.4192A>G (p.Ile1398Val) c.5290A>G (p.Ile1764Val) n.1172A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473102T>G	CA381675513	SHANK2	c.3550A>C (p.Ile1184Leu) c.1095A>C (n.1095A>C) c.5317A>C (p.Ile1773Leu) c.2826A>C c.4180A>C (p.Ile1394Leu) c.3607A>C (p.Ile1203Leu) c.3553A>C (p.Ile1185Leu) c.321A>C (n.321A>C) c.3529A>C (p.Ile1177Leu) c.1093A>C c.3154A>C (p.Ile1052Leu) n.2069A>C n.1171A>C c.5287A>C (p.Ile1763Leu) c.5329A>C (p.Ile1777Leu) c.5308A>C (p.Ile1770Leu) c.5302A>C (p.Ile1768Leu) c.5281A>C (p.Ile1761Leu) c.4192A>C (p.Ile1398Leu) c.5290A>C (p.Ile1764Leu) n.1172A>C
11	g.70473102T=	CA1981067909	SHANK2	c.3550A= (p.Ile1184=) c.1095A= (n.1095A=) c.5317A= (p.Ile1773=) c.2826A= c.4180A= (p.Ile1394=) c.3607A= (p.Ile1203=) c.3553A= (p.Ile1185=) c.321A= (n.321A=) c.3529A= (p.Ile1177=) c.1093A= c.3154A= (p.Ile1052=) n.2069A= n.1171A= c.5287A= (p.Ile1763=) c.5329A= (p.Ile1777=) c.5308A= (p.Ile1770=) c.5302A= (p.Ile1768=) c.5281A= (p.Ile1761=) c.4192A= (p.Ile1398=) c.5290A= (p.Ile1764=) n.1172A=
11	g.70473103T>A	CA475471079	SHANK2	c.3549A>T (p.Pro1183=) c.1094A>T (n.1094A>T) c.5316A>T (p.Pro1772=) c.2825A>T c.4179A>T (p.Pro1393=) c.3606A>T (p.Pro1202=) c.3552A>T (p.Pro1184=) c.320A>T (n.320A>T) c.3528A>T (p.Pro1176=) c.1092A>T c.3153A>T (p.Pro1051=) n.2068A>T n.1170A>T c.5286A>T (p.Pro1762=) c.5328A>T (p.Pro1776=) c.5307A>T (p.Pro1769=) c.5301A>T (p.Pro1767=) c.5280A>T (p.Pro1760=) c.4191A>T (p.Pro1397=) c.5289A>T (p.Pro1763=) n.1171A>T
11	g.70473103T>C	CA475471080	SHANK2	c.3549A>G (p.Pro1183=) c.1094A>G (n.1094A>G) c.5316A>G (p.Pro1772=) c.2825A>G c.4179A>G (p.Pro1393=) c.3606A>G (p.Pro1202=) c.3552A>G (p.Pro1184=) c.320A>G (n.320A>G) c.3528A>G (p.Pro1176=) c.1092A>G c.3153A>G (p.Pro1051=) n.2068A>G n.1170A>G c.5286A>G (p.Pro1762=) c.5328A>G (p.Pro1776=) c.5307A>G (p.Pro1769=) c.5301A>G (p.Pro1767=) c.5280A>G (p.Pro1760=) c.4191A>G (p.Pro1397=) c.5289A>G (p.Pro1763=) n.1171A>G	gnomAD v4
11	g.70473103T>G	CA475471081	SHANK2	c.3549A>C (p.Pro1183=) c.1094A>C (n.1094A>C) c.5316A>C (p.Pro1772=) c.2825A>C c.4179A>C (p.Pro1393=) c.3606A>C (p.Pro1202=) c.3552A>C (p.Pro1184=) c.320A>C (n.320A>C) c.3528A>C (p.Pro1176=) c.1092A>C c.3153A>C (p.Pro1051=) n.2068A>C n.1170A>C c.5286A>C (p.Pro1762=) c.5328A>C (p.Pro1776=) c.5307A>C (p.Pro1769=) c.5301A>C (p.Pro1767=) c.5280A>C (p.Pro1760=) c.4191A>C (p.Pro1397=) c.5289A>C (p.Pro1763=) n.1171A>C
11	g.70473104G>A	CA381675518	SHANK2	c.3548C>T (p.Pro1183Leu) c.1093C>T (n.1093C>T) c.5315C>T (p.Pro1772Leu) c.2824C>T c.4178C>T (p.Pro1393Leu) c.3605C>T (p.Pro1202Leu) c.3551C>T (p.Pro1184Leu) c.319C>T (n.319C>T) c.3527C>T (p.Pro1176Leu) c.1091C>T c.3152C>T (p.Pro1051Leu) n.2067C>T n.1169C>T c.5285C>T (p.Pro1762Leu) c.5327C>T (p.Pro1776Leu) c.5306C>T (p.Pro1769Leu) c.5300C>T (p.Pro1767Leu) c.5279C>T (p.Pro1760Leu) c.4190C>T (p.Pro1397Leu) c.5288C>T (p.Pro1763Leu) n.1170C>T
11	g.70473104G>C	CA223591746	SHANK2	c.3548C>G (p.Pro1183Arg) c.1093C>G (n.1093C>G) c.5315C>G (p.Pro1772Arg) c.2824C>G c.4178C>G (p.Pro1393Arg) c.3605C>G (p.Pro1202Arg) c.3551C>G (p.Pro1184Arg) c.319C>G (n.319C>G) c.3527C>G (p.Pro1176Arg) c.1091C>G c.3152C>G (p.Pro1051Arg) n.2067C>G n.1169C>G c.5285C>G (p.Pro1762Arg) c.5327C>G (p.Pro1776Arg) c.5306C>G (p.Pro1769Arg) c.5300C>G (p.Pro1767Arg) c.5279C>G (p.Pro1760Arg) c.4190C>G (p.Pro1397Arg) c.5288C>G (p.Pro1763Arg) n.1170C>G	dbSNP
11	g.70473104G=	CA1981067910	SHANK2	c.3548C= (p.Pro1183=) c.1093C= (n.1093C=) c.5315C= (p.Pro1772=) c.2824C= c.4178C= (p.Pro1393=) c.3605C= (p.Pro1202=) c.3551C= (p.Pro1184=) c.319C= (n.319C=) c.3527C= (p.Pro1176=) c.1091C= c.3152C= (p.Pro1051=) n.2067C= n.1169C= c.5285C= (p.Pro1762=) c.5327C= (p.Pro1776=) c.5306C= (p.Pro1769=) c.5300C= (p.Pro1767=) c.5279C= (p.Pro1760=) c.4190C= (p.Pro1397=) c.5288C= (p.Pro1763=) n.1170C=
11	g.70473104G>T	CA381675523	SHANK2	c.3548C>A (p.Pro1183Gln) c.1093C>A (n.1093C>A) c.5315C>A (p.Pro1772Gln) c.2824C>A c.4178C>A (p.Pro1393Gln) c.3605C>A (p.Pro1202Gln) c.3551C>A (p.Pro1184Gln) c.319C>A (n.319C>A) c.3527C>A (p.Pro1176Gln) c.1091C>A c.3152C>A (p.Pro1051Gln) n.2067C>A n.1169C>A c.5285C>A (p.Pro1762Gln) c.5327C>A (p.Pro1776Gln) c.5306C>A (p.Pro1769Gln) c.5300C>A (p.Pro1767Gln) c.5279C>A (p.Pro1760Gln) c.4190C>A (p.Pro1397Gln) c.5288C>A (p.Pro1763Gln) n.1170C>A
11	g.70473105G>A	CA6160719	SHANK2	c.3547C>T (p.Pro1183Ser) c.1092C>T (n.1092C>T) c.5314C>T (p.Pro1772Ser) c.2823C>T c.4177C>T (p.Pro1393Ser) c.3604C>T (p.Pro1202Ser) c.3550C>T (p.Pro1184Ser) c.318C>T (n.318C>T) c.3526C>T (p.Pro1176Ser) c.1090C>T c.3151C>T (p.Pro1051Ser) n.2066C>T n.1168C>T c.5284C>T (p.Pro1762Ser) c.5326C>T (p.Pro1776Ser) c.5305C>T (p.Pro1769Ser) c.5299C>T (p.Pro1767Ser) c.5278C>T (p.Pro1760Ser) c.4189C>T (p.Pro1397Ser) c.5287C>T (p.Pro1763Ser) n.1169C>T	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473105G>C	CA381675551	SHANK2	c.3547C>G (p.Pro1183Ala) c.1092C>G (n.1092C>G) c.5314C>G (p.Pro1772Ala) c.2823C>G c.4177C>G (p.Pro1393Ala) c.3604C>G (p.Pro1202Ala) c.3550C>G (p.Pro1184Ala) c.318C>G (n.318C>G) c.3526C>G (p.Pro1176Ala) c.1090C>G c.3151C>G (p.Pro1051Ala) n.2066C>G n.1168C>G c.5284C>G (p.Pro1762Ala) c.5326C>G (p.Pro1776Ala) c.5305C>G (p.Pro1769Ala) c.5299C>G (p.Pro1767Ala) c.5278C>G (p.Pro1760Ala) c.4189C>G (p.Pro1397Ala) c.5287C>G (p.Pro1763Ala) n.1169C>G
11	g.70473105G=	CA1981067911	SHANK2	c.3547C= (p.Pro1183=) c.1092C= (n.1092C=) c.5314C= (p.Pro1772=) c.2823C= c.4177C= (p.Pro1393=) c.3604C= (p.Pro1202=) c.3550C= (p.Pro1184=) c.318C= (n.318C=) c.3526C= (p.Pro1176=) c.1090C= c.3151C= (p.Pro1051=) n.2066C= n.1168C= c.5284C= (p.Pro1762=) c.5326C= (p.Pro1776=) c.5305C= (p.Pro1769=) c.5299C= (p.Pro1767=) c.5278C= (p.Pro1760=) c.4189C= (p.Pro1397=) c.5287C= (p.Pro1763=) n.1169C=
11	g.70473105G>T	CA381675529	SHANK2	c.3547C>A (p.Pro1183Thr) c.1092C>A (n.1092C>A) c.5314C>A (p.Pro1772Thr) c.2823C>A c.4177C>A (p.Pro1393Thr) c.3604C>A (p.Pro1202Thr) c.3550C>A (p.Pro1184Thr) c.318C>A (n.318C>A) c.3526C>A (p.Pro1176Thr) c.1090C>A c.3151C>A (p.Pro1051Thr) n.2066C>A n.1168C>A c.5284C>A (p.Pro1762Thr) c.5326C>A (p.Pro1776Thr) c.5305C>A (p.Pro1769Thr) c.5299C>A (p.Pro1767Thr) c.5278C>A (p.Pro1760Thr) c.4189C>A (p.Pro1397Thr) c.5287C>A (p.Pro1763Thr) n.1169C>A
11	g.70473106C>A	CA381675555	SHANK2	c.3546G>T (p.Gln1182His) c.1091G>T (n.1091G>T) c.5313G>T (p.Gln1771His) c.2822G>T c.4176G>T (p.Gln1392His) c.3603G>T (p.Gln1201His) c.3549G>T (p.Gln1183His) c.317G>T (n.317G>T) c.3525G>T (p.Gln1175His) c.1089G>T c.3150G>T (p.Gln1050His) n.2065G>T n.1167G>T c.5283G>T (p.Gln1761His) c.5325G>T (p.Gln1775His) c.5304G>T (p.Gln1768His) c.5298G>T (p.Gln1766His) c.5277G>T (p.Gln1759His) c.4188G>T (p.Gln1396His) c.5286G>T (p.Gln1762His) n.1168G>T
11	g.70473106C>G	CA381675560	SHANK2	c.3546G>C (p.Gln1182His) c.1091G>C (n.1091G>C) c.5313G>C (p.Gln1771His) c.2822G>C c.4176G>C (p.Gln1392His) c.3603G>C (p.Gln1201His) c.3549G>C (p.Gln1183His) c.317G>C (n.317G>C) c.3525G>C (p.Gln1175His) c.1089G>C c.3150G>C (p.Gln1050His) n.2065G>C n.1167G>C c.5283G>C (p.Gln1761His) c.5325G>C (p.Gln1775His) c.5304G>C (p.Gln1768His) c.5298G>C (p.Gln1766His) c.5277G>C (p.Gln1759His) c.4188G>C (p.Gln1396His) c.5286G>C (p.Gln1762His) n.1168G>C	gnomAD v4
11	g.70473106C>T	CA475471085	SHANK2	c.3546G>A (p.Gln1182=) c.1091G>A (n.1091G>A) c.5313G>A (p.Gln1771=) c.2822G>A c.4176G>A (p.Gln1392=) c.3603G>A (p.Gln1201=) c.3549G>A (p.Gln1183=) c.317G>A (n.317G>A) c.3525G>A (p.Gln1175=) c.1089G>A c.3150G>A (p.Gln1050=) n.2065G>A n.1167G>A c.5283G>A (p.Gln1761=) c.5325G>A (p.Gln1775=) c.5304G>A (p.Gln1768=) c.5298G>A (p.Gln1766=) c.5277G>A (p.Gln1759=) c.4188G>A (p.Gln1396=) c.5286G>A (p.Gln1762=) n.1168G>A
11	g.70473107T>A	CA381675566	SHANK2	c.3545A>T (p.Gln1182Leu) c.1090A>T (n.1090A>T) c.5312A>T (p.Gln1771Leu) c.2821A>T c.4175A>T (p.Gln1392Leu) c.3602A>T (p.Gln1201Leu) c.3548A>T (p.Gln1183Leu) c.316A>T (n.316A>T) c.3524A>T (p.Gln1175Leu) c.1088A>T c.3149A>T (p.Gln1050Leu) n.2064A>T n.1166A>T c.5282A>T (p.Gln1761Leu) c.5324A>T (p.Gln1775Leu) c.5303A>T (p.Gln1768Leu) c.5297A>T (p.Gln1766Leu) c.5276A>T (p.Gln1759Leu) c.4187A>T (p.Gln1396Leu) c.5285A>T (p.Gln1762Leu) n.1167A>T
11	g.70473107T>C	CA381675570	SHANK2	c.3545A>G (p.Gln1182Arg) c.1090A>G (n.1090A>G) c.5312A>G (p.Gln1771Arg) c.2821A>G c.4175A>G (p.Gln1392Arg) c.3602A>G (p.Gln1201Arg) c.3548A>G (p.Gln1183Arg) c.316A>G (n.316A>G) c.3524A>G (p.Gln1175Arg) c.1088A>G c.3149A>G (p.Gln1050Arg) n.2064A>G n.1166A>G c.5282A>G (p.Gln1761Arg) c.5324A>G (p.Gln1775Arg) c.5303A>G (p.Gln1768Arg) c.5297A>G (p.Gln1766Arg) c.5276A>G (p.Gln1759Arg) c.4187A>G (p.Gln1396Arg) c.5285A>G (p.Gln1762Arg) n.1167A>G
11	g.70473107T>G	CA381675581	SHANK2	c.3545A>C (p.Gln1182Pro) c.1090A>C (n.1090A>C) c.5312A>C (p.Gln1771Pro) c.2821A>C c.4175A>C (p.Gln1392Pro) c.3602A>C (p.Gln1201Pro) c.3548A>C (p.Gln1183Pro) c.316A>C (n.316A>C) c.3524A>C (p.Gln1175Pro) c.1088A>C c.3149A>C (p.Gln1050Pro) n.2064A>C n.1166A>C c.5282A>C (p.Gln1761Pro) c.5324A>C (p.Gln1775Pro) c.5303A>C (p.Gln1768Pro) c.5297A>C (p.Gln1766Pro) c.5276A>C (p.Gln1759Pro) c.4187A>C (p.Gln1396Pro) c.5285A>C (p.Gln1762Pro) n.1167A>C
11	g.70473108G>A	CA381675582	SHANK2	c.3544C>T (p.Gln1182Ter) c.1089C>T (n.1089C>T) c.5311C>T (p.Gln1771Ter) c.2820C>T c.4174C>T (p.Gln1392Ter) c.3601C>T (p.Gln1201Ter) c.3547C>T (p.Gln1183Ter) c.315C>T (n.315C>T) c.3523C>T (p.Gln1175Ter) c.1087C>T c.3148C>T (p.Gln1050Ter) n.2063C>T n.1165C>T c.5281C>T (p.Gln1761Ter) c.5323C>T (p.Gln1775Ter) c.5302C>T (p.Gln1768Ter) c.5296C>T (p.Gln1766Ter) c.5275C>T (p.Gln1759Ter) c.4186C>T (p.Gln1396Ter) c.5284C>T (p.Gln1762Ter) n.1166C>T
11	g.70473108G>C	CA381675583	SHANK2	c.3544C>G (p.Gln1182Glu) c.1089C>G (n.1089C>G) c.5311C>G (p.Gln1771Glu) c.2820C>G c.4174C>G (p.Gln1392Glu) c.3601C>G (p.Gln1201Glu) c.3547C>G (p.Gln1183Glu) c.315C>G (n.315C>G) c.3523C>G (p.Gln1175Glu) c.1087C>G c.3148C>G (p.Gln1050Glu) n.2063C>G n.1165C>G c.5281C>G (p.Gln1761Glu) c.5323C>G (p.Gln1775Glu) c.5302C>G (p.Gln1768Glu) c.5296C>G (p.Gln1766Glu) c.5275C>G (p.Gln1759Glu) c.4186C>G (p.Gln1396Glu) c.5284C>G (p.Gln1762Glu) n.1166C>G	gnomAD v4
11	g.70473108G>T	CA381675586	SHANK2	c.3544C>A (p.Gln1182Lys) c.1089C>A (n.1089C>A) c.5311C>A (p.Gln1771Lys) c.2820C>A c.4174C>A (p.Gln1392Lys) c.3601C>A (p.Gln1201Lys) c.3547C>A (p.Gln1183Lys) c.315C>A (n.315C>A) c.3523C>A (p.Gln1175Lys) c.1087C>A c.3148C>A (p.Gln1050Lys) n.2063C>A n.1165C>A c.5281C>A (p.Gln1761Lys) c.5323C>A (p.Gln1775Lys) c.5302C>A (p.Gln1768Lys) c.5296C>A (p.Gln1766Lys) c.5275C>A (p.Gln1759Lys) c.4186C>A (p.Gln1396Lys) c.5284C>A (p.Gln1762Lys) n.1166C>A
11	g.70473108_70473120delinsGTTGCAGTATCGA	CA1981067912	SHANK2	c.3532_3544delinsTCGATACTGCAAC (p.Ser1178=) c.1077_1089delinsTCGATACTGCAAC (n.1077_1089delinsTCGATACTGCAAC) c.5299_5311delinsTCGATACTGCAAC (p.Ser1767=) c.2808_2820delinsTCGATACTGCAAC c.4162_4174delinsTCGATACTGCAAC (p.Ser1388=) c.3589_3601delinsTCGATACTGCAAC (p.Ser1197=) c.3535_3547delinsTCGATACTGCAAC (p.Ser1179=) c.303_315delinsTCGATACTGCAAC (n.303_315delinsTCGATACTGCAAC) c.3511_3523delinsTCGATACTGCAAC (p.Ser1171=) c.1075_1087delinsTCGATACTGCAAC c.3136_3148delinsTCGATACTGCAAC (p.Ser1046=) n.2051_2063delinsTCGATACTGCAAC n.1153_1165delinsTCGATACTGCAAC c.5269_5281delinsTCGATACTGCAAC (p.Ser1757=) c.5311_5323delinsTCGATACTGCAAC (p.Ser1771=) c.5290_5302delinsTCGATACTGCAAC (p.Ser1764=) c.5284_5296delinsTCGATACTGCAAC (p.Ser1762=) c.5263_5275delinsTCGATACTGCAAC (p.Ser1755=) c.4174_4186delinsTCGATACTGCAAC (p.Ser1392=) c.5272_5284delinsTCGATACTGCAAC (p.Ser1758=) n.1154_1166delinsTCGATACTGCAAC
11	g.70473109T>A	CA381675589	SHANK2	c.3543A>T (p.Gln1181His) c.1088A>T (n.1088A>T) c.5310A>T (p.Gln1770His) c.2819A>T c.4173A>T (p.Gln1391His) c.3600A>T (p.Gln1200His) c.3546A>T (p.Gln1182His) c.314A>T (n.314A>T) c.3522A>T (p.Gln1174His) c.1086A>T c.3147A>T (p.Gln1049His) n.2062A>T n.1164A>T c.5280A>T (p.Gln1760His) c.5322A>T (p.Gln1774His) c.5301A>T (p.Gln1767His) c.5295A>T (p.Gln1765His) c.5274A>T (p.Gln1758His) c.4185A>T (p.Gln1395His) c.5283A>T (p.Gln1761His) n.1165A>T
11	g.70473109T>C	CA475471088	SHANK2	c.3543A>G (p.Gln1181=) c.1088A>G (n.1088A>G) c.5310A>G (p.Gln1770=) c.2819A>G c.4173A>G (p.Gln1391=) c.3600A>G (p.Gln1200=) c.3546A>G (p.Gln1182=) c.314A>G (n.314A>G) c.3522A>G (p.Gln1174=) c.1086A>G c.3147A>G (p.Gln1049=) n.2062A>G n.1164A>G c.5280A>G (p.Gln1760=) c.5322A>G (p.Gln1774=) c.5301A>G (p.Gln1767=) c.5295A>G (p.Gln1765=) c.5274A>G (p.Gln1758=) c.4185A>G (p.Gln1395=) c.5283A>G (p.Gln1761=) n.1165A>G	gnomAD v4
11	g.70473109T>G	CA6160721	SHANK2	c.3543A>C (p.Gln1181His) c.1088A>C (n.1088A>C) c.5310A>C (p.Gln1770His) c.2819A>C c.4173A>C (p.Gln1391His) c.3600A>C (p.Gln1200His) c.3546A>C (p.Gln1182His) c.314A>C (n.314A>C) c.3522A>C (p.Gln1174His) c.1086A>C c.3147A>C (p.Gln1049His) n.2062A>C n.1164A>C c.5280A>C (p.Gln1760His) c.5322A>C (p.Gln1774His) c.5301A>C (p.Gln1767His) c.5295A>C (p.Gln1765His) c.5274A>C (p.Gln1758His) c.4185A>C (p.Gln1395His) c.5283A>C (p.Gln1761His) n.1165A>C	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473109T=	CA1981067913	SHANK2	c.3543A= (p.Gln1181=) c.1088A= (n.1088A=) c.5310A= (p.Gln1770=) c.2819A= c.4173A= (p.Gln1391=) c.3600A= (p.Gln1200=) c.3546A= (p.Gln1182=) c.314A= (n.314A=) c.3522A= (p.Gln1174=) c.1086A= c.3147A= (p.Gln1049=) n.2062A= n.1164A= c.5280A= (p.Gln1760=) c.5322A= (p.Gln1774=) c.5301A= (p.Gln1767=) c.5295A= (p.Gln1765=) c.5274A= (p.Gln1758=) c.4185A= (p.Gln1395=) c.5283A= (p.Gln1761=) n.1165A=
11	g.70473109_70473118del	CA600241157	SHANK2	c.3534_3543del (p.Ile1179SerfsTer28) c.1079_1088del (n.1079_1088del) c.5301_5310del (p.Ile1768SerfsTer28) c.2810_2819del c.4164_4173del (p.Ile1389SerfsTer28) c.3591_3600del (p.Ile1198SerfsTer28) c.3537_3546del (p.Ile1180SerfsTer28) c.305_314del (n.305_314del) c.3513_3522del (p.Ile1172SerfsTer28) c.1077_1086del c.3138_3147del (p.Ile1047SerfsTer28) n.2053_2062del n.1155_1164del c.5271_5280del (p.Ile1758SerfsTer28) c.5313_5322del (p.Ile1772SerfsTer28) c.5292_5301del (p.Ile1765SerfsTer28) c.5286_5295del (p.Ile1763SerfsTer28) c.5265_5274del (p.Ile1756SerfsTer28) c.4176_4185del (p.Ile1393SerfsTer28) c.5274_5283del (p.Ile1759SerfsTer28) n.1156_1165del	gnomAD v2
11	g.70473109_70473120del	CA6160720	SHANK2	c.3532_3543del (p.Ser1178_Gln1181del) c.1077_1088del (n.1077_1088del) c.5299_5310del (p.Ser1767_Gln1770del) c.2808_2819del c.4162_4173del (p.Ser1388_Gln1391del) c.3589_3600del (p.Ser1197_Gln1200del) c.3535_3546del (p.Ser1179_Gln1182del) c.303_314del (n.303_314del) c.3511_3522del (p.Ser1171_Gln1174del) c.1075_1086del c.3136_3147del (p.Ser1046_Gln1049del) n.2051_2062del n.1153_1164del c.5269_5280del (p.Ser1757_Gln1760del) c.5311_5322del (p.Ser1771_Gln1774del) c.5290_5301del (p.Ser1764_Gln1767del) c.5284_5295del (p.Ser1762_Gln1765del) c.5263_5274del (p.Ser1755_Gln1758del) c.4174_4185del (p.Ser1392_Gln1395del) c.5272_5283del (p.Ser1758_Gln1761del) n.1154_1165del	dbSNP ExAC gnomAD v2
11	g.70473110T>A	CA381675594	SHANK2	c.3542A>T (p.Gln1181Leu) c.1087A>T (n.1087A>T) c.5309A>T (p.Gln1770Leu) c.2818A>T c.4172A>T (p.Gln1391Leu) c.3599A>T (p.Gln1200Leu) c.3545A>T (p.Gln1182Leu) c.313A>T (n.313A>T) c.3521A>T (p.Gln1174Leu) c.1085A>T c.3146A>T (p.Gln1049Leu) n.2061A>T n.1163A>T c.5279A>T (p.Gln1760Leu) c.5321A>T (p.Gln1774Leu) c.5300A>T (p.Gln1767Leu) c.5294A>T (p.Gln1765Leu) c.5273A>T (p.Gln1758Leu) c.4184A>T (p.Gln1395Leu) c.5282A>T (p.Gln1761Leu) n.1164A>T
11	g.70473110T>C	CA381675591	SHANK2	c.3542A>G (p.Gln1181Arg) c.1087A>G (n.1087A>G) c.5309A>G (p.Gln1770Arg) c.2818A>G c.4172A>G (p.Gln1391Arg) c.3599A>G (p.Gln1200Arg) c.3545A>G (p.Gln1182Arg) c.313A>G (n.313A>G) c.3521A>G (p.Gln1174Arg) c.1085A>G c.3146A>G (p.Gln1049Arg) n.2061A>G n.1163A>G c.5279A>G (p.Gln1760Arg) c.5321A>G (p.Gln1774Arg) c.5300A>G (p.Gln1767Arg) c.5294A>G (p.Gln1765Arg) c.5273A>G (p.Gln1758Arg) c.4184A>G (p.Gln1395Arg) c.5282A>G (p.Gln1761Arg) n.1164A>G
11	g.70473110T>G	CA381675590	SHANK2	c.3542A>C (p.Gln1181Pro) c.1087A>C (n.1087A>C) c.5309A>C (p.Gln1770Pro) c.2818A>C c.4172A>C (p.Gln1391Pro) c.3599A>C (p.Gln1200Pro) c.3545A>C (p.Gln1182Pro) c.313A>C (n.313A>C) c.3521A>C (p.Gln1174Pro) c.1085A>C c.3146A>C (p.Gln1049Pro) n.2061A>C n.1163A>C c.5279A>C (p.Gln1760Pro) c.5321A>C (p.Gln1774Pro) c.5300A>C (p.Gln1767Pro) c.5294A>C (p.Gln1765Pro) c.5273A>C (p.Gln1758Pro) c.4184A>C (p.Gln1395Pro) c.5282A>C (p.Gln1761Pro) n.1164A>C
11	g.70473111G>A	CA381675601	SHANK2	c.3541C>T (p.Gln1181Ter) c.1086C>T (n.1086C>T) c.5308C>T (p.Gln1770Ter) c.2817C>T c.4171C>T (p.Gln1391Ter) c.3598C>T (p.Gln1200Ter) c.3544C>T (p.Gln1182Ter) c.312C>T (n.312C>T) c.3520C>T (p.Gln1174Ter) c.1084C>T c.3145C>T (p.Gln1049Ter) n.2060C>T n.1162C>T c.5278C>T (p.Gln1760Ter) c.5320C>T (p.Gln1774Ter) c.5299C>T (p.Gln1767Ter) c.5293C>T (p.Gln1765Ter) c.5272C>T (p.Gln1758Ter) c.4183C>T (p.Gln1395Ter) c.5281C>T (p.Gln1761Ter) n.1163C>T
11	g.70473111G>C	CA381675610	SHANK2	c.3541C>G (p.Gln1181Glu) c.1086C>G (n.1086C>G) c.5308C>G (p.Gln1770Glu) c.2817C>G c.4171C>G (p.Gln1391Glu) c.3598C>G (p.Gln1200Glu) c.3544C>G (p.Gln1182Glu) c.312C>G (n.312C>G) c.3520C>G (p.Gln1174Glu) c.1084C>G c.3145C>G (p.Gln1049Glu) n.2060C>G n.1162C>G c.5278C>G (p.Gln1760Glu) c.5320C>G (p.Gln1774Glu) c.5299C>G (p.Gln1767Glu) c.5293C>G (p.Gln1765Glu) c.5272C>G (p.Gln1758Glu) c.4183C>G (p.Gln1395Glu) c.5281C>G (p.Gln1761Glu) n.1163C>G
11	g.70473111G>T	CA381675605	SHANK2	c.3541C>A (p.Gln1181Lys) c.1086C>A (n.1086C>A) c.5308C>A (p.Gln1770Lys) c.2817C>A c.4171C>A (p.Gln1391Lys) c.3598C>A (p.Gln1200Lys) c.3544C>A (p.Gln1182Lys) c.312C>A (n.312C>A) c.3520C>A (p.Gln1174Lys) c.1084C>A c.3145C>A (p.Gln1049Lys) n.2060C>A n.1162C>A c.5278C>A (p.Gln1760Lys) c.5320C>A (p.Gln1774Lys) c.5299C>A (p.Gln1767Lys) c.5293C>A (p.Gln1765Lys) c.5272C>A (p.Gln1758Lys) c.4183C>A (p.Gln1395Lys) c.5281C>A (p.Gln1761Lys) n.1163C>A
11	g.70473112C>A	CA475471094	SHANK2	c.3540G>T (p.Leu1180=) c.1085G>T (n.1085G>T) c.5307G>T (p.Leu1769=) c.2816G>T c.4170G>T (p.Leu1390=) c.3597G>T (p.Leu1199=) c.3543G>T (p.Leu1181=) c.311G>T (n.311G>T) c.3519G>T (p.Leu1173=) c.1083G>T c.3144G>T (p.Leu1048=) n.2059G>T n.1161G>T c.5277G>T (p.Leu1759=) c.5319G>T (p.Leu1773=) c.5298G>T (p.Leu1766=) c.5292G>T (p.Leu1764=) c.5271G>T (p.Leu1757=) c.4182G>T (p.Leu1394=) c.5280G>T (p.Leu1760=) n.1162G>T
11	g.70473112C>G	CA475471093	SHANK2	c.3540G>C (p.Leu1180=) c.1085G>C (n.1085G>C) c.5307G>C (p.Leu1769=) c.2816G>C c.4170G>C (p.Leu1390=) c.3597G>C (p.Leu1199=) c.3543G>C (p.Leu1181=) c.311G>C (n.311G>C) c.3519G>C (p.Leu1173=) c.1083G>C c.3144G>C (p.Leu1048=) n.2059G>C n.1161G>C c.5277G>C (p.Leu1759=) c.5319G>C (p.Leu1773=) c.5298G>C (p.Leu1766=) c.5292G>C (p.Leu1764=) c.5271G>C (p.Leu1757=) c.4182G>C (p.Leu1394=) c.5280G>C (p.Leu1760=) n.1162G>C	gnomAD v4
11	g.70473112C>T	CA475471092	SHANK2	c.3540G>A (p.Leu1180=) c.1085G>A (n.1085G>A) c.5307G>A (p.Leu1769=) c.2816G>A c.4170G>A (p.Leu1390=) c.3597G>A (p.Leu1199=) c.3543G>A (p.Leu1181=) c.311G>A (n.311G>A) c.3519G>A (p.Leu1173=) c.1083G>A c.3144G>A (p.Leu1048=) n.2059G>A n.1161G>A c.5277G>A (p.Leu1759=) c.5319G>A (p.Leu1773=) c.5298G>A (p.Leu1766=) c.5292G>A (p.Leu1764=) c.5271G>A (p.Leu1757=) c.4182G>A (p.Leu1394=) c.5280G>A (p.Leu1760=) n.1162G>A	gnomAD v4
11	g.70473113A=	CA1981067914	SHANK2	c.3539T= (p.Leu1180=) c.1084T= (n.1084T=) c.5306T= (p.Leu1769=) c.2815T= c.4169T= (p.Leu1390=) c.3596T= (p.Leu1199=) c.3542T= (p.Leu1181=) c.310T= (n.310T=) c.3518T= (p.Leu1173=) c.1082T= c.3143T= (p.Leu1048=) n.2058T= n.1160T= c.5276T= (p.Leu1759=) c.5318T= (p.Leu1773=) c.5297T= (p.Leu1766=) c.5291T= (p.Leu1764=) c.5270T= (p.Leu1757=) c.4181T= (p.Leu1394=) c.5279T= (p.Leu1760=) n.1161T=
11	g.70473113A>C	CA6160723	SHANK2	c.3539T>G (p.Leu1180Arg) c.1084T>G (n.1084T>G) c.5306T>G (p.Leu1769Arg) c.2815T>G c.4169T>G (p.Leu1390Arg) c.3596T>G (p.Leu1199Arg) c.3542T>G (p.Leu1181Arg) c.310T>G (n.310T>G) c.3518T>G (p.Leu1173Arg) c.1082T>G c.3143T>G (p.Leu1048Arg) n.2058T>G n.1160T>G c.5276T>G (p.Leu1759Arg) c.5318T>G (p.Leu1773Arg) c.5297T>G (p.Leu1766Arg) c.5291T>G (p.Leu1764Arg) c.5270T>G (p.Leu1757Arg) c.4181T>G (p.Leu1394Arg) c.5279T>G (p.Leu1760Arg) n.1161T>G	dbSNP ExAC
11	g.70473113A>G	CA6160722	SHANK2	c.3539T>C (p.Leu1180Pro) c.1084T>C (n.1084T>C) c.5306T>C (p.Leu1769Pro) c.2815T>C c.4169T>C (p.Leu1390Pro) c.3596T>C (p.Leu1199Pro) c.3542T>C (p.Leu1181Pro) c.310T>C (n.310T>C) c.3518T>C (p.Leu1173Pro) c.1082T>C c.3143T>C (p.Leu1048Pro) n.2058T>C n.1160T>C c.5276T>C (p.Leu1759Pro) c.5318T>C (p.Leu1773Pro) c.5297T>C (p.Leu1766Pro) c.5291T>C (p.Leu1764Pro) c.5270T>C (p.Leu1757Pro) c.4181T>C (p.Leu1394Pro) c.5279T>C (p.Leu1760Pro) n.1161T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473113A>T	CA381675620	SHANK2	c.3539T>A (p.Leu1180Gln) c.1084T>A (n.1084T>A) c.5306T>A (p.Leu1769Gln) c.2815T>A c.4169T>A (p.Leu1390Gln) c.3596T>A (p.Leu1199Gln) c.3542T>A (p.Leu1181Gln) c.310T>A (n.310T>A) c.3518T>A (p.Leu1173Gln) c.1082T>A c.3143T>A (p.Leu1048Gln) n.2058T>A n.1160T>A c.5276T>A (p.Leu1759Gln) c.5318T>A (p.Leu1773Gln) c.5297T>A (p.Leu1766Gln) c.5291T>A (p.Leu1764Gln) c.5270T>A (p.Leu1757Gln) c.4181T>A (p.Leu1394Gln) c.5279T>A (p.Leu1760Gln) n.1161T>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473114G>A	CA475471095	SHANK2	c.3538C>T (p.Leu1180=) c.1083C>T (n.1083C>T) c.5305C>T (p.Leu1769=) c.2814C>T c.4168C>T (p.Leu1390=) c.3595C>T (p.Leu1199=) c.3541C>T (p.Leu1181=) c.309C>T (n.309C>T) c.3517C>T (p.Leu1173=) c.1081C>T c.3142C>T (p.Leu1048=) n.2057C>T n.1159C>T c.5275C>T (p.Leu1759=) c.5317C>T (p.Leu1773=) c.5296C>T (p.Leu1766=) c.5290C>T (p.Leu1764=) c.5269C>T (p.Leu1757=) c.4180C>T (p.Leu1394=) c.5278C>T (p.Leu1760=) n.1160C>T	dbSNP
11	g.70473114G>C	CA381675631	SHANK2	c.3538C>G (p.Leu1180Val) c.1083C>G (n.1083C>G) c.5305C>G (p.Leu1769Val) c.2814C>G c.4168C>G (p.Leu1390Val) c.3595C>G (p.Leu1199Val) c.3541C>G (p.Leu1181Val) c.309C>G (n.309C>G) c.3517C>G (p.Leu1173Val) c.1081C>G c.3142C>G (p.Leu1048Val) n.2057C>G n.1159C>G c.5275C>G (p.Leu1759Val) c.5317C>G (p.Leu1773Val) c.5296C>G (p.Leu1766Val) c.5290C>G (p.Leu1764Val) c.5269C>G (p.Leu1757Val) c.4180C>G (p.Leu1394Val) c.5278C>G (p.Leu1760Val) n.1160C>G
11	g.70473114G=	CA1981067915	SHANK2	c.3538C= (p.Leu1180=) c.1083C= (n.1083C=) c.5305C= (p.Leu1769=) c.2814C= c.4168C= (p.Leu1390=) c.3595C= (p.Leu1199=) c.3541C= (p.Leu1181=) c.309C= (n.309C=) c.3517C= (p.Leu1173=) c.1081C= c.3142C= (p.Leu1048=) n.2057C= n.1159C= c.5275C= (p.Leu1759=) c.5317C= (p.Leu1773=) c.5296C= (p.Leu1766=) c.5290C= (p.Leu1764=) c.5269C= (p.Leu1757=) c.4180C= (p.Leu1394=) c.5278C= (p.Leu1760=) n.1160C=
11	g.70473114G>T	CA381675632	SHANK2	c.3538C>A (p.Leu1180Met) c.1083C>A (n.1083C>A) c.5305C>A (p.Leu1769Met) c.2814C>A c.4168C>A (p.Leu1390Met) c.3595C>A (p.Leu1199Met) c.3541C>A (p.Leu1181Met) c.309C>A (n.309C>A) c.3517C>A (p.Leu1173Met) c.1081C>A c.3142C>A (p.Leu1048Met) n.2057C>A n.1159C>A c.5275C>A (p.Leu1759Met) c.5317C>A (p.Leu1773Met) c.5296C>A (p.Leu1766Met) c.5290C>A (p.Leu1764Met) c.5269C>A (p.Leu1757Met) c.4180C>A (p.Leu1394Met) c.5278C>A (p.Leu1760Met) n.1160C>A
11	g.70473115T>A	CA475471099	SHANK2	c.3537A>T (p.Ile1179=) c.1082A>T (n.1082A>T) c.5304A>T (p.Ile1768=) c.2813A>T c.4167A>T (p.Ile1389=) c.3594A>T (p.Ile1198=) c.3540A>T (p.Ile1180=) c.308A>T (n.308A>T) c.3516A>T (p.Ile1172=) c.1080A>T c.3141A>T (p.Ile1047=) n.2056A>T n.1158A>T c.5274A>T (p.Ile1758=) c.5316A>T (p.Ile1772=) c.5295A>T (p.Ile1765=) c.5289A>T (p.Ile1763=) c.5268A>T (p.Ile1756=) c.4179A>T (p.Ile1393=) c.5277A>T (p.Ile1759=) n.1159A>T
11	g.70473115T>C	CA381675637	SHANK2	c.3537A>G (p.Ile1179Met) c.1082A>G (n.1082A>G) c.5304A>G (p.Ile1768Met) c.2813A>G c.4167A>G (p.Ile1389Met) c.3594A>G (p.Ile1198Met) c.3540A>G (p.Ile1180Met) c.308A>G (n.308A>G) c.3516A>G (p.Ile1172Met) c.1080A>G c.3141A>G (p.Ile1047Met) n.2056A>G n.1158A>G c.5274A>G (p.Ile1758Met) c.5316A>G (p.Ile1772Met) c.5295A>G (p.Ile1765Met) c.5289A>G (p.Ile1763Met) c.5268A>G (p.Ile1756Met) c.4179A>G (p.Ile1393Met) c.5277A>G (p.Ile1759Met) n.1159A>G
11	g.70473115T>G	CA475471100	SHANK2	c.3537A>C (p.Ile1179=) c.1082A>C (n.1082A>C) c.5304A>C (p.Ile1768=) c.2813A>C c.4167A>C (p.Ile1389=) c.3594A>C (p.Ile1198=) c.3540A>C (p.Ile1180=) c.308A>C (n.308A>C) c.3516A>C (p.Ile1172=) c.1080A>C c.3141A>C (p.Ile1047=) n.2056A>C n.1158A>C c.5274A>C (p.Ile1758=) c.5316A>C (p.Ile1772=) c.5295A>C (p.Ile1765=) c.5289A>C (p.Ile1763=) c.5268A>C (p.Ile1756=) c.4179A>C (p.Ile1393=) c.5277A>C (p.Ile1759=) n.1159A>C
11	g.70473116A>C	CA381675638	SHANK2	c.3536T>G (p.Ile1179Arg) c.1081T>G (n.1081T>G) c.5303T>G (p.Ile1768Arg) c.2812T>G c.4166T>G (p.Ile1389Arg) c.3593T>G (p.Ile1198Arg) c.3539T>G (p.Ile1180Arg) c.307T>G (n.307T>G) c.3515T>G (p.Ile1172Arg) c.1079T>G c.3140T>G (p.Ile1047Arg) n.2055T>G n.1157T>G c.5273T>G (p.Ile1758Arg) c.5315T>G (p.Ile1772Arg) c.5294T>G (p.Ile1765Arg) c.5288T>G (p.Ile1763Arg) c.5267T>G (p.Ile1756Arg) c.4178T>G (p.Ile1393Arg) c.5276T>G (p.Ile1759Arg) n.1158T>G
11	g.70473116A>G	CA381675639	SHANK2	c.3536T>C (p.Ile1179Thr) c.1081T>C (n.1081T>C) c.5303T>C (p.Ile1768Thr) c.2812T>C c.4166T>C (p.Ile1389Thr) c.3593T>C (p.Ile1198Thr) c.3539T>C (p.Ile1180Thr) c.307T>C (n.307T>C) c.3515T>C (p.Ile1172Thr) c.1079T>C c.3140T>C (p.Ile1047Thr) n.2055T>C n.1157T>C c.5273T>C (p.Ile1758Thr) c.5315T>C (p.Ile1772Thr) c.5294T>C (p.Ile1765Thr) c.5288T>C (p.Ile1763Thr) c.5267T>C (p.Ile1756Thr) c.4178T>C (p.Ile1393Thr) c.5276T>C (p.Ile1759Thr) n.1158T>C
11	g.70473116A>T	CA381675640	SHANK2	c.3536T>A (p.Ile1179Lys) c.1081T>A (n.1081T>A) c.5303T>A (p.Ile1768Lys) c.2812T>A c.4166T>A (p.Ile1389Lys) c.3593T>A (p.Ile1198Lys) c.3539T>A (p.Ile1180Lys) c.307T>A (n.307T>A) c.3515T>A (p.Ile1172Lys) c.1079T>A c.3140T>A (p.Ile1047Lys) n.2055T>A n.1157T>A c.5273T>A (p.Ile1758Lys) c.5315T>A (p.Ile1772Lys) c.5294T>A (p.Ile1765Lys) c.5288T>A (p.Ile1763Lys) c.5267T>A (p.Ile1756Lys) c.4178T>A (p.Ile1393Lys) c.5276T>A (p.Ile1759Lys) n.1158T>A	gnomAD v4
11	g.70473117T>A	CA381675643	SHANK2	c.3535A>T (p.Ile1179Leu) c.1080A>T (n.1080A>T) c.5302A>T (p.Ile1768Leu) c.2811A>T c.4165A>T (p.Ile1389Leu) c.3592A>T (p.Ile1198Leu) c.3538A>T (p.Ile1180Leu) c.306A>T (n.306A>T) c.3514A>T (p.Ile1172Leu) c.1078A>T c.3139A>T (p.Ile1047Leu) n.2054A>T n.1156A>T c.5272A>T (p.Ile1758Leu) c.5314A>T (p.Ile1772Leu) c.5293A>T (p.Ile1765Leu) c.5287A>T (p.Ile1763Leu) c.5266A>T (p.Ile1756Leu) c.4177A>T (p.Ile1393Leu) c.5275A>T (p.Ile1759Leu) n.1157A>T
11	g.70473117T>C	CA381675646	SHANK2	c.3535A>G (p.Ile1179Val) c.1080A>G (n.1080A>G) c.5302A>G (p.Ile1768Val) c.2811A>G c.4165A>G (p.Ile1389Val) c.3592A>G (p.Ile1198Val) c.3538A>G (p.Ile1180Val) c.306A>G (n.306A>G) c.3514A>G (p.Ile1172Val) c.1078A>G c.3139A>G (p.Ile1047Val) n.2054A>G n.1156A>G c.5272A>G (p.Ile1758Val) c.5314A>G (p.Ile1772Val) c.5293A>G (p.Ile1765Val) c.5287A>G (p.Ile1763Val) c.5266A>G (p.Ile1756Val) c.4177A>G (p.Ile1393Val) c.5275A>G (p.Ile1759Val) n.1157A>G
11	g.70473117T>G	CA381675665	SHANK2	c.3535A>C (p.Ile1179Leu) c.1080A>C (n.1080A>C) c.5302A>C (p.Ile1768Leu) c.2811A>C c.4165A>C (p.Ile1389Leu) c.3592A>C (p.Ile1198Leu) c.3538A>C (p.Ile1180Leu) c.306A>C (n.306A>C) c.3514A>C (p.Ile1172Leu) c.1078A>C c.3139A>C (p.Ile1047Leu) n.2054A>C n.1156A>C c.5272A>C (p.Ile1758Leu) c.5314A>C (p.Ile1772Leu) c.5293A>C (p.Ile1765Leu) c.5287A>C (p.Ile1763Leu) c.5266A>C (p.Ile1756Leu) c.4177A>C (p.Ile1393Leu) c.5275A>C (p.Ile1759Leu) n.1157A>C
11	g.70473118C>A	CA475471103	SHANK2	c.3534G>T (p.Ser1178=) c.1079G>T (n.1079G>T) c.5301G>T (p.Ser1767=) c.2810G>T c.4164G>T (p.Ser1388=) c.3591G>T (p.Ser1197=) c.3537G>T (p.Ser1179=) c.305G>T (n.305G>T) c.3513G>T (p.Ser1171=) c.1077G>T c.3138G>T (p.Ser1046=) n.2053G>T n.1155G>T c.5271G>T (p.Ser1757=) c.5313G>T (p.Ser1771=) c.5292G>T (p.Ser1764=) c.5286G>T (p.Ser1762=) c.5265G>T (p.Ser1755=) c.4176G>T (p.Ser1392=) c.5274G>T (p.Ser1758=) n.1156G>T	dbSNP gnomAD v3 gnomAD v4
11	g.70473118C=	CA1981067916	SHANK2	c.3534G= (p.Ser1178=) c.1079G= (n.1079G=) c.5301G= (p.Ser1767=) c.2810G= c.4164G= (p.Ser1388=) c.3591G= (p.Ser1197=) c.3537G= (p.Ser1179=) c.305G= (n.305G=) c.3513G= (p.Ser1171=) c.1077G= c.3138G= (p.Ser1046=) n.2053G= n.1155G= c.5271G= (p.Ser1757=) c.5313G= (p.Ser1771=) c.5292G= (p.Ser1764=) c.5286G= (p.Ser1762=) c.5265G= (p.Ser1755=) c.4176G= (p.Ser1392=) c.5274G= (p.Ser1758=) n.1156G=
11	g.70473118C>G	CA475471104	SHANK2	c.3534G>C (p.Ser1178=) c.1079G>C (n.1079G>C) c.5301G>C (p.Ser1767=) c.2810G>C c.4164G>C (p.Ser1388=) c.3591G>C (p.Ser1197=) c.3537G>C (p.Ser1179=) c.305G>C (n.305G>C) c.3513G>C (p.Ser1171=) c.1077G>C c.3138G>C (p.Ser1046=) n.2053G>C n.1155G>C c.5271G>C (p.Ser1757=) c.5313G>C (p.Ser1771=) c.5292G>C (p.Ser1764=) c.5286G>C (p.Ser1762=) c.5265G>C (p.Ser1755=) c.4176G>C (p.Ser1392=) c.5274G>C (p.Ser1758=) n.1156G>C
11	g.70473118C>T	CA6160724	SHANK2	c.3534G>A (p.Ser1178=) c.1079G>A (n.1079G>A) c.5301G>A (p.Ser1767=) c.2810G>A c.4164G>A (p.Ser1388=) c.3591G>A (p.Ser1197=) c.3537G>A (p.Ser1179=) c.305G>A (n.305G>A) c.3513G>A (p.Ser1171=) c.1077G>A c.3138G>A (p.Ser1046=) n.2053G>A n.1155G>A c.5271G>A (p.Ser1757=) c.5313G>A (p.Ser1771=) c.5292G>A (p.Ser1764=) c.5286G>A (p.Ser1762=) c.5265G>A (p.Ser1755=) c.4176G>A (p.Ser1392=) c.5274G>A (p.Ser1758=) n.1156G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473119G>A	CA6160725	SHANK2	c.3533C>T (p.Ser1178Leu) c.1078C>T (n.1078C>T) c.5300C>T (p.Ser1767Leu) c.2809C>T c.4163C>T (p.Ser1388Leu) c.3590C>T (p.Ser1197Leu) c.3536C>T (p.Ser1179Leu) c.304C>T (n.304C>T) c.3512C>T (p.Ser1171Leu) c.1076C>T c.3137C>T (p.Ser1046Leu) n.2052C>T n.1154C>T c.5270C>T (p.Ser1757Leu) c.5312C>T (p.Ser1771Leu) c.5291C>T (p.Ser1764Leu) c.5285C>T (p.Ser1762Leu) c.5264C>T (p.Ser1755Leu) c.4175C>T (p.Ser1392Leu) c.5273C>T (p.Ser1758Leu) n.1155C>T	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473119G>C	CA381675677	SHANK2	c.3533C>G (p.Ser1178Trp) c.1078C>G (n.1078C>G) c.5300C>G (p.Ser1767Trp) c.2809C>G c.4163C>G (p.Ser1388Trp) c.3590C>G (p.Ser1197Trp) c.3536C>G (p.Ser1179Trp) c.304C>G (n.304C>G) c.3512C>G (p.Ser1171Trp) c.1076C>G c.3137C>G (p.Ser1046Trp) n.2052C>G n.1154C>G c.5270C>G (p.Ser1757Trp) c.5312C>G (p.Ser1771Trp) c.5291C>G (p.Ser1764Trp) c.5285C>G (p.Ser1762Trp) c.5264C>G (p.Ser1755Trp) c.4175C>G (p.Ser1392Trp) c.5273C>G (p.Ser1758Trp) n.1155C>G	dbSNP gnomAD v4
11	g.70473119G=	CA1981067917	SHANK2	c.3533C= (p.Ser1178=) c.1078C= (n.1078C=) c.5300C= (p.Ser1767=) c.2809C= c.4163C= (p.Ser1388=) c.3590C= (p.Ser1197=) c.3536C= (p.Ser1179=) c.304C= (n.304C=) c.3512C= (p.Ser1171=) c.1076C= c.3137C= (p.Ser1046=) n.2052C= n.1154C= c.5270C= (p.Ser1757=) c.5312C= (p.Ser1771=) c.5291C= (p.Ser1764=) c.5285C= (p.Ser1762=) c.5264C= (p.Ser1755=) c.4175C= (p.Ser1392=) c.5273C= (p.Ser1758=) n.1155C=
11	g.70473119G>T	CA381675674	SHANK2	c.3533C>A (p.Ser1178Ter) c.1078C>A (n.1078C>A) c.5300C>A (p.Ser1767Ter) c.2809C>A c.4163C>A (p.Ser1388Ter) c.3590C>A (p.Ser1197Ter) c.3536C>A (p.Ser1179Ter) c.304C>A (n.304C>A) c.3512C>A (p.Ser1171Ter) c.1076C>A c.3137C>A (p.Ser1046Ter) n.2052C>A n.1154C>A c.5270C>A (p.Ser1757Ter) c.5312C>A (p.Ser1771Ter) c.5291C>A (p.Ser1764Ter) c.5285C>A (p.Ser1762Ter) c.5264C>A (p.Ser1755Ter) c.4175C>A (p.Ser1392Ter) c.5273C>A (p.Ser1758Ter) n.1155C>A
11	g.70473120A=	CA1981067918	SHANK2	c.3532T= (p.Ser1178=) c.1077T= (n.1077T=) c.5299T= (p.Ser1767=) c.2808T= c.4162T= (p.Ser1388=) c.3589T= (p.Ser1197=) c.3535T= (p.Ser1179=) c.303T= (n.303T=) c.3511T= (p.Ser1171=) c.1075T= c.3136T= (p.Ser1046=) n.2051T= n.1153T= c.5269T= (p.Ser1757=) c.5311T= (p.Ser1771=) c.5290T= (p.Ser1764=) c.5284T= (p.Ser1762=) c.5263T= (p.Ser1755=) c.4174T= (p.Ser1392=) c.5272T= (p.Ser1758=) n.1154T=
11	g.70473120A>C	CA381675678	SHANK2	c.3532T>G (p.Ser1178Ala) c.1077T>G (n.1077T>G) c.5299T>G (p.Ser1767Ala) c.2808T>G c.4162T>G (p.Ser1388Ala) c.3589T>G (p.Ser1197Ala) c.3535T>G (p.Ser1179Ala) c.303T>G (n.303T>G) c.3511T>G (p.Ser1171Ala) c.1075T>G c.3136T>G (p.Ser1046Ala) n.2051T>G n.1153T>G c.5269T>G (p.Ser1757Ala) c.5311T>G (p.Ser1771Ala) c.5290T>G (p.Ser1764Ala) c.5284T>G (p.Ser1762Ala) c.5263T>G (p.Ser1755Ala) c.4174T>G (p.Ser1392Ala) c.5272T>G (p.Ser1758Ala) n.1154T>G
11	g.70473120A>G	CA381675679	SHANK2	c.3532T>C (p.Ser1178Pro) c.1077T>C (n.1077T>C) c.5299T>C (p.Ser1767Pro) c.2808T>C c.4162T>C (p.Ser1388Pro) c.3589T>C (p.Ser1197Pro) c.3535T>C (p.Ser1179Pro) c.303T>C (n.303T>C) c.3511T>C (p.Ser1171Pro) c.1075T>C c.3136T>C (p.Ser1046Pro) n.2051T>C n.1153T>C c.5269T>C (p.Ser1757Pro) c.5311T>C (p.Ser1771Pro) c.5290T>C (p.Ser1764Pro) c.5284T>C (p.Ser1762Pro) c.5263T>C (p.Ser1755Pro) c.4174T>C (p.Ser1392Pro) c.5272T>C (p.Ser1758Pro) n.1154T>C	dbSNP gnomAD v2
11	g.70473120A>T	CA381675680	SHANK2	c.3532T>A (p.Ser1178Thr) c.1077T>A (n.1077T>A) c.5299T>A (p.Ser1767Thr) c.2808T>A c.4162T>A (p.Ser1388Thr) c.3589T>A (p.Ser1197Thr) c.3535T>A (p.Ser1179Thr) c.303T>A (n.303T>A) c.3511T>A (p.Ser1171Thr) c.1075T>A c.3136T>A (p.Ser1046Thr) n.2051T>A n.1153T>A c.5269T>A (p.Ser1757Thr) c.5311T>A (p.Ser1771Thr) c.5290T>A (p.Ser1764Thr) c.5284T>A (p.Ser1762Thr) c.5263T>A (p.Ser1755Thr) c.4174T>A (p.Ser1392Thr) c.5272T>A (p.Ser1758Thr) n.1154T>A
11	g.70473121G>A	CA475471108	SHANK2	c.3531C>T (p.Pro1177=) c.1076C>T (n.1076C>T) c.5298C>T (p.Pro1766=) c.2807C>T c.4161C>T (p.Pro1387=) c.3588C>T (p.Pro1196=) c.3534C>T (p.Pro1178=) c.302C>T (n.302C>T) c.3510C>T (p.Pro1170=) c.1074C>T c.3135C>T (p.Pro1045=) n.2050C>T n.1152C>T c.5268C>T (p.Pro1756=) c.5310C>T (p.Pro1770=) c.5289C>T (p.Pro1763=) c.5283C>T (p.Pro1761=) c.5262C>T (p.Pro1754=) c.4173C>T (p.Pro1391=) c.5271C>T (p.Pro1757=) n.1153C>T	COSMIC COSMIC COSMIC
11	g.70473121G>C	CA475471109	SHANK2	c.3531C>G (p.Pro1177=) c.1076C>G (n.1076C>G) c.5298C>G (p.Pro1766=) c.2807C>G c.4161C>G (p.Pro1387=) c.3588C>G (p.Pro1196=) c.3534C>G (p.Pro1178=) c.302C>G (n.302C>G) c.3510C>G (p.Pro1170=) c.1074C>G c.3135C>G (p.Pro1045=) n.2050C>G n.1152C>G c.5268C>G (p.Pro1756=) c.5310C>G (p.Pro1770=) c.5289C>G (p.Pro1763=) c.5283C>G (p.Pro1761=) c.5262C>G (p.Pro1754=) c.4173C>G (p.Pro1391=) c.5271C>G (p.Pro1757=) n.1153C>G
11	g.70473121G>T	CA475471110	SHANK2	c.3531C>A (p.Pro1177=) c.1076C>A (n.1076C>A) c.5298C>A (p.Pro1766=) c.2807C>A c.4161C>A (p.Pro1387=) c.3588C>A (p.Pro1196=) c.3534C>A (p.Pro1178=) c.302C>A (n.302C>A) c.3510C>A (p.Pro1170=) c.1074C>A c.3135C>A (p.Pro1045=) n.2050C>A n.1152C>A c.5268C>A (p.Pro1756=) c.5310C>A (p.Pro1770=) c.5289C>A (p.Pro1763=) c.5283C>A (p.Pro1761=) c.5262C>A (p.Pro1754=) c.4173C>A (p.Pro1391=) c.5271C>A (p.Pro1757=) n.1153C>A
11	g.70473122G>A	CA381675681	SHANK2	c.3530C>T (p.Pro1177Leu) c.1075C>T (n.1075C>T) c.5297C>T (p.Pro1766Leu) c.2806C>T c.4160C>T (p.Pro1387Leu) c.3587C>T (p.Pro1196Leu) c.3533C>T (p.Pro1178Leu) c.301C>T (n.301C>T) c.3509C>T (p.Pro1170Leu) c.1073C>T c.3134C>T (p.Pro1045Leu) n.2049C>T n.1151C>T c.5267C>T (p.Pro1756Leu) c.5309C>T (p.Pro1770Leu) c.5288C>T (p.Pro1763Leu) c.5282C>T (p.Pro1761Leu) c.5261C>T (p.Pro1754Leu) c.4172C>T (p.Pro1391Leu) c.5270C>T (p.Pro1757Leu) n.1152C>T
11	g.70473122G>C	CA381675682	SHANK2	c.3530C>G (p.Pro1177Arg) c.1075C>G (n.1075C>G) c.5297C>G (p.Pro1766Arg) c.2806C>G c.4160C>G (p.Pro1387Arg) c.3587C>G (p.Pro1196Arg) c.3533C>G (p.Pro1178Arg) c.301C>G (n.301C>G) c.3509C>G (p.Pro1170Arg) c.1073C>G c.3134C>G (p.Pro1045Arg) n.2049C>G n.1151C>G c.5267C>G (p.Pro1756Arg) c.5309C>G (p.Pro1770Arg) c.5288C>G (p.Pro1763Arg) c.5282C>G (p.Pro1761Arg) c.5261C>G (p.Pro1754Arg) c.4172C>G (p.Pro1391Arg) c.5270C>G (p.Pro1757Arg) n.1152C>G
11	g.70473122G>T	CA381675683	SHANK2	c.3530C>A (p.Pro1177His) c.1075C>A (n.1075C>A) c.5297C>A (p.Pro1766His) c.2806C>A c.4160C>A (p.Pro1387His) c.3587C>A (p.Pro1196His) c.3533C>A (p.Pro1178His) c.301C>A (n.301C>A) c.3509C>A (p.Pro1170His) c.1073C>A c.3134C>A (p.Pro1045His) n.2049C>A n.1151C>A c.5267C>A (p.Pro1756His) c.5309C>A (p.Pro1770His) c.5288C>A (p.Pro1763His) c.5282C>A (p.Pro1761His) c.5261C>A (p.Pro1754His) c.4172C>A (p.Pro1391His) c.5270C>A (p.Pro1757His) n.1152C>A
11	g.70473123G>A	CA381675686	SHANK2	c.3529C>T (p.Pro1177Ser) c.1074C>T (n.1074C>T) c.5296C>T (p.Pro1766Ser) c.2805C>T c.4159C>T (p.Pro1387Ser) c.3586C>T (p.Pro1196Ser) c.3532C>T (p.Pro1178Ser) c.300C>T (n.300C>T) c.3508C>T (p.Pro1170Ser) c.1072C>T c.3133C>T (p.Pro1045Ser) n.2048C>T n.1150C>T c.5266C>T (p.Pro1756Ser) c.5308C>T (p.Pro1770Ser) c.5287C>T (p.Pro1763Ser) c.5281C>T (p.Pro1761Ser) c.5260C>T (p.Pro1754Ser) c.4171C>T (p.Pro1391Ser) c.5269C>T (p.Pro1757Ser) n.1151C>T
11	g.70473123G>C	CA381675690	SHANK2	c.3529C>G (p.Pro1177Ala) c.1074C>G (n.1074C>G) c.5296C>G (p.Pro1766Ala) c.2805C>G c.4159C>G (p.Pro1387Ala) c.3586C>G (p.Pro1196Ala) c.3532C>G (p.Pro1178Ala) c.300C>G (n.300C>G) c.3508C>G (p.Pro1170Ala) c.1072C>G c.3133C>G (p.Pro1045Ala) n.2048C>G n.1150C>G c.5266C>G (p.Pro1756Ala) c.5308C>G (p.Pro1770Ala) c.5287C>G (p.Pro1763Ala) c.5281C>G (p.Pro1761Ala) c.5260C>G (p.Pro1754Ala) c.4171C>G (p.Pro1391Ala) c.5269C>G (p.Pro1757Ala) n.1151C>G
11	g.70473123G>T	CA381675693	SHANK2	c.3529C>A (p.Pro1177Thr) c.1074C>A (n.1074C>A) c.5296C>A (p.Pro1766Thr) c.2805C>A c.4159C>A (p.Pro1387Thr) c.3586C>A (p.Pro1196Thr) c.3532C>A (p.Pro1178Thr) c.300C>A (n.300C>A) c.3508C>A (p.Pro1170Thr) c.1072C>A c.3133C>A (p.Pro1045Thr) n.2048C>A n.1150C>A c.5266C>A (p.Pro1756Thr) c.5308C>A (p.Pro1770Thr) c.5287C>A (p.Pro1763Thr) c.5281C>A (p.Pro1761Thr) c.5260C>A (p.Pro1754Thr) c.4171C>A (p.Pro1391Thr) c.5269C>A (p.Pro1757Thr) n.1151C>A
11	g.70473124G>A	CA475471117	SHANK2	c.3528C>T (p.Ser1176=) c.1073C>T (n.1073C>T) c.5295C>T (p.Ser1765=) c.2804C>T c.4158C>T (p.Ser1386=) c.3585C>T (p.Ser1195=) c.3531C>T (p.Ser1177=) c.299C>T (n.299C>T) c.3507C>T (p.Ser1169=) c.1071C>T c.3132C>T (p.Ser1044=) n.2047C>T n.1149C>T c.5265C>T (p.Ser1755=) c.5307C>T (p.Ser1769=) c.5286C>T (p.Ser1762=) c.5280C>T (p.Ser1760=) c.5259C>T (p.Ser1753=) c.4170C>T (p.Ser1390=) c.5268C>T (p.Ser1756=) n.1150C>T	gnomAD v4
11	g.70473124G>C	CA475471118	SHANK2	c.3528C>G (p.Ser1176=) c.1073C>G (n.1073C>G) c.5295C>G (p.Ser1765=) c.2804C>G c.4158C>G (p.Ser1386=) c.3585C>G (p.Ser1195=) c.3531C>G (p.Ser1177=) c.299C>G (n.299C>G) c.3507C>G (p.Ser1169=) c.1071C>G c.3132C>G (p.Ser1044=) n.2047C>G n.1149C>G c.5265C>G (p.Ser1755=) c.5307C>G (p.Ser1769=) c.5286C>G (p.Ser1762=) c.5280C>G (p.Ser1760=) c.5259C>G (p.Ser1753=) c.4170C>G (p.Ser1390=) c.5268C>G (p.Ser1756=) n.1150C>G
11	g.70473124G=	CA1981067919	SHANK2	c.3528C= (p.Ser1176=) c.1073C= (n.1073C=) c.5295C= (p.Ser1765=) c.2804C= c.4158C= (p.Ser1386=) c.3585C= (p.Ser1195=) c.3531C= (p.Ser1177=) c.299C= (n.299C=) c.3507C= (p.Ser1169=) c.1071C= c.3132C= (p.Ser1044=) n.2047C= n.1149C= c.5265C= (p.Ser1755=) c.5307C= (p.Ser1769=) c.5286C= (p.Ser1762=) c.5280C= (p.Ser1760=) c.5259C= (p.Ser1753=) c.4170C= (p.Ser1390=) c.5268C= (p.Ser1756=) n.1150C=
11	g.70473124G>T	CA475471119	SHANK2	c.3528C>A (p.Ser1176=) c.1073C>A (n.1073C>A) c.5295C>A (p.Ser1765=) c.2804C>A c.4158C>A (p.Ser1386=) c.3585C>A (p.Ser1195=) c.3531C>A (p.Ser1177=) c.299C>A (n.299C>A) c.3507C>A (p.Ser1169=) c.1071C>A c.3132C>A (p.Ser1044=) n.2047C>A n.1149C>A c.5265C>A (p.Ser1755=) c.5307C>A (p.Ser1769=) c.5286C>A (p.Ser1762=) c.5280C>A (p.Ser1760=) c.5259C>A (p.Ser1753=) c.4170C>A (p.Ser1390=) c.5268C>A (p.Ser1756=) n.1150C>A	dbSNP gnomAD v4
11	g.70473125G>A	CA381675704	SHANK2	c.3527C>T (p.Ser1176Phe) c.1072C>T (n.1072C>T) c.5294C>T (p.Ser1765Phe) c.2803C>T c.4157C>T (p.Ser1386Phe) c.3584C>T (p.Ser1195Phe) c.3530C>T (p.Ser1177Phe) c.298C>T (n.298C>T) c.3506C>T (p.Ser1169Phe) c.1070C>T c.3131C>T (p.Ser1044Phe) n.2046C>T n.1148C>T c.5264C>T (p.Ser1755Phe) c.5306C>T (p.Ser1769Phe) c.5285C>T (p.Ser1762Phe) c.5279C>T (p.Ser1760Phe) c.5258C>T (p.Ser1753Phe) c.4169C>T (p.Ser1390Phe) c.5267C>T (p.Ser1756Phe) n.1149C>T
11	g.70473125G>C	CA381675700	SHANK2	c.3527C>G (p.Ser1176Cys) c.1072C>G (n.1072C>G) c.5294C>G (p.Ser1765Cys) c.2803C>G c.4157C>G (p.Ser1386Cys) c.3584C>G (p.Ser1195Cys) c.3530C>G (p.Ser1177Cys) c.298C>G (n.298C>G) c.3506C>G (p.Ser1169Cys) c.1070C>G c.3131C>G (p.Ser1044Cys) n.2046C>G n.1148C>G c.5264C>G (p.Ser1755Cys) c.5306C>G (p.Ser1769Cys) c.5285C>G (p.Ser1762Cys) c.5279C>G (p.Ser1760Cys) c.5258C>G (p.Ser1753Cys) c.4169C>G (p.Ser1390Cys) c.5267C>G (p.Ser1756Cys) n.1149C>G
11	g.70473125G>T	CA381675696	SHANK2	c.3527C>A (p.Ser1176Tyr) c.1072C>A (n.1072C>A) c.5294C>A (p.Ser1765Tyr) c.2803C>A c.4157C>A (p.Ser1386Tyr) c.3584C>A (p.Ser1195Tyr) c.3530C>A (p.Ser1177Tyr) c.298C>A (n.298C>A) c.3506C>A (p.Ser1169Tyr) c.1070C>A c.3131C>A (p.Ser1044Tyr) n.2046C>A n.1148C>A c.5264C>A (p.Ser1755Tyr) c.5306C>A (p.Ser1769Tyr) c.5285C>A (p.Ser1762Tyr) c.5279C>A (p.Ser1760Tyr) c.5258C>A (p.Ser1753Tyr) c.4169C>A (p.Ser1390Tyr) c.5267C>A (p.Ser1756Tyr) n.1149C>A
11	g.70473126A=	CA1981067920	SHANK2	c.3526T= (p.Ser1176=) c.1071T= (n.1071T=) c.5293T= (p.Ser1765=) c.2802T= c.4156T= (p.Ser1386=) c.3583T= (p.Ser1195=) c.3529T= (p.Ser1177=) c.297T= (n.297T=) c.3505T= (p.Ser1169=) c.1069T= c.3130T= (p.Ser1044=) n.2045T= n.1147T= c.5263T= (p.Ser1755=) c.5305T= (p.Ser1769=) c.5284T= (p.Ser1762=) c.5278T= (p.Ser1760=) c.5257T= (p.Ser1753=) c.4168T= (p.Ser1390=) c.5266T= (p.Ser1756=) n.1148T=
11	g.70473126A>C	CA381675707	SHANK2	c.3526T>G (p.Ser1176Ala) c.1071T>G (n.1071T>G) c.5293T>G (p.Ser1765Ala) c.2802T>G c.4156T>G (p.Ser1386Ala) c.3583T>G (p.Ser1195Ala) c.3529T>G (p.Ser1177Ala) c.297T>G (n.297T>G) c.3505T>G (p.Ser1169Ala) c.1069T>G c.3130T>G (p.Ser1044Ala) n.2045T>G n.1147T>G c.5263T>G (p.Ser1755Ala) c.5305T>G (p.Ser1769Ala) c.5284T>G (p.Ser1762Ala) c.5278T>G (p.Ser1760Ala) c.5257T>G (p.Ser1753Ala) c.4168T>G (p.Ser1390Ala) c.5266T>G (p.Ser1756Ala) n.1148T>G
11	g.70473126A>G	CA381675711	SHANK2	c.3526T>C (p.Ser1176Pro) c.1071T>C (n.1071T>C) c.5293T>C (p.Ser1765Pro) c.2802T>C c.4156T>C (p.Ser1386Pro) c.3583T>C (p.Ser1195Pro) c.3529T>C (p.Ser1177Pro) c.297T>C (n.297T>C) c.3505T>C (p.Ser1169Pro) c.1069T>C c.3130T>C (p.Ser1044Pro) n.2045T>C n.1147T>C c.5263T>C (p.Ser1755Pro) c.5305T>C (p.Ser1769Pro) c.5284T>C (p.Ser1762Pro) c.5278T>C (p.Ser1760Pro) c.5257T>C (p.Ser1753Pro) c.4168T>C (p.Ser1390Pro) c.5266T>C (p.Ser1756Pro) n.1148T>C	dbSNP COSMIC COSMIC COSMIC
11	g.70473126A>T	CA381675714	SHANK2	c.3526T>A (p.Ser1176Thr) c.1071T>A (n.1071T>A) c.5293T>A (p.Ser1765Thr) c.2802T>A c.4156T>A (p.Ser1386Thr) c.3583T>A (p.Ser1195Thr) c.3529T>A (p.Ser1177Thr) c.297T>A (n.297T>A) c.3505T>A (p.Ser1169Thr) c.1069T>A c.3130T>A (p.Ser1044Thr) n.2045T>A n.1147T>A c.5263T>A (p.Ser1755Thr) c.5305T>A (p.Ser1769Thr) c.5284T>A (p.Ser1762Thr) c.5278T>A (p.Ser1760Thr) c.5257T>A (p.Ser1753Thr) c.4168T>A (p.Ser1390Thr) c.5266T>A (p.Ser1756Thr) n.1148T>A
11	g.70473127T>A	CA475471122	SHANK2	c.3525A>T (p.Pro1175=) c.1070A>T (n.1070A>T) c.5292A>T (p.Pro1764=) c.2801A>T c.4155A>T (p.Pro1385=) c.3582A>T (p.Pro1194=) c.3528A>T (p.Pro1176=) c.296A>T (n.296A>T) c.3504A>T (p.Pro1168=) c.1068A>T c.3129A>T (p.Pro1043=) n.2044A>T n.1146A>T c.5262A>T (p.Pro1754=) c.5304A>T (p.Pro1768=) c.5283A>T (p.Pro1761=) c.5277A>T (p.Pro1759=) c.5256A>T (p.Pro1752=) c.4167A>T (p.Pro1389=) c.5265A>T (p.Pro1755=) n.1147A>T
11	g.70473127T>C	CA475471123	SHANK2	c.3525A>G (p.Pro1175=) c.1070A>G (n.1070A>G) c.5292A>G (p.Pro1764=) c.2801A>G c.4155A>G (p.Pro1385=) c.3582A>G (p.Pro1194=) c.3528A>G (p.Pro1176=) c.296A>G (n.296A>G) c.3504A>G (p.Pro1168=) c.1068A>G c.3129A>G (p.Pro1043=) n.2044A>G n.1146A>G c.5262A>G (p.Pro1754=) c.5304A>G (p.Pro1768=) c.5283A>G (p.Pro1761=) c.5277A>G (p.Pro1759=) c.5256A>G (p.Pro1752=) c.4167A>G (p.Pro1389=) c.5265A>G (p.Pro1755=) n.1147A>G
11	g.70473127T>G	CA475471124	SHANK2	c.3525A>C (p.Pro1175=) c.1070A>C (n.1070A>C) c.5292A>C (p.Pro1764=) c.2801A>C c.4155A>C (p.Pro1385=) c.3582A>C (p.Pro1194=) c.3528A>C (p.Pro1176=) c.296A>C (n.296A>C) c.3504A>C (p.Pro1168=) c.1068A>C c.3129A>C (p.Pro1043=) n.2044A>C n.1146A>C c.5262A>C (p.Pro1754=) c.5304A>C (p.Pro1768=) c.5283A>C (p.Pro1761=) c.5277A>C (p.Pro1759=) c.5256A>C (p.Pro1752=) c.4167A>C (p.Pro1389=) c.5265A>C (p.Pro1755=) n.1147A>C
11	g.70473128G>A	CA381675721	SHANK2	c.3524C>T (p.Pro1175Leu) c.1069C>T (n.1069C>T) c.5291C>T (p.Pro1764Leu) c.2800C>T c.4154C>T (p.Pro1385Leu) c.3581C>T (p.Pro1194Leu) c.3527C>T (p.Pro1176Leu) c.295C>T (n.295C>T) c.3503C>T (p.Pro1168Leu) c.1067C>T c.3128C>T (p.Pro1043Leu) n.2043C>T n.1145C>T c.5261C>T (p.Pro1754Leu) c.5303C>T (p.Pro1768Leu) c.5282C>T (p.Pro1761Leu) c.5276C>T (p.Pro1759Leu) c.5255C>T (p.Pro1752Leu) c.4166C>T (p.Pro1389Leu) c.5264C>T (p.Pro1755Leu) n.1146C>T
11	g.70473128G>C	CA381675723	SHANK2	c.3524C>G (p.Pro1175Arg) c.1069C>G (n.1069C>G) c.5291C>G (p.Pro1764Arg) c.2800C>G c.4154C>G (p.Pro1385Arg) c.3581C>G (p.Pro1194Arg) c.3527C>G (p.Pro1176Arg) c.295C>G (n.295C>G) c.3503C>G (p.Pro1168Arg) c.1067C>G c.3128C>G (p.Pro1043Arg) n.2043C>G n.1145C>G c.5261C>G (p.Pro1754Arg) c.5303C>G (p.Pro1768Arg) c.5282C>G (p.Pro1761Arg) c.5276C>G (p.Pro1759Arg) c.5255C>G (p.Pro1752Arg) c.4166C>G (p.Pro1389Arg) c.5264C>G (p.Pro1755Arg) n.1146C>G
11	g.70473128G>T	CA381675724	SHANK2	c.3524C>A (p.Pro1175Gln) c.1069C>A (n.1069C>A) c.5291C>A (p.Pro1764Gln) c.2800C>A c.4154C>A (p.Pro1385Gln) c.3581C>A (p.Pro1194Gln) c.3527C>A (p.Pro1176Gln) c.295C>A (n.295C>A) c.3503C>A (p.Pro1168Gln) c.1067C>A c.3128C>A (p.Pro1043Gln) n.2043C>A n.1145C>A c.5261C>A (p.Pro1754Gln) c.5303C>A (p.Pro1768Gln) c.5282C>A (p.Pro1761Gln) c.5276C>A (p.Pro1759Gln) c.5255C>A (p.Pro1752Gln) c.4166C>A (p.Pro1389Gln) c.5264C>A (p.Pro1755Gln) n.1146C>A
11	g.70473129G>A	CA381675729	SHANK2	c.3523C>T (p.Pro1175Ser) c.1068C>T (n.1068C>T) c.5290C>T (p.Pro1764Ser) c.2799C>T c.4153C>T (p.Pro1385Ser) c.3580C>T (p.Pro1194Ser) c.3526C>T (p.Pro1176Ser) c.294C>T (n.294C>T) c.3502C>T (p.Pro1168Ser) c.1066C>T c.3127C>T (p.Pro1043Ser) n.2042C>T n.1144C>T c.5260C>T (p.Pro1754Ser) c.5302C>T (p.Pro1768Ser) c.5281C>T (p.Pro1761Ser) c.5275C>T (p.Pro1759Ser) c.5254C>T (p.Pro1752Ser) c.4165C>T (p.Pro1389Ser) c.5263C>T (p.Pro1755Ser) n.1145C>T
11	g.70473129G>C	CA381675734	SHANK2	c.3523C>G (p.Pro1175Ala) c.1068C>G (n.1068C>G) c.5290C>G (p.Pro1764Ala) c.2799C>G c.4153C>G (p.Pro1385Ala) c.3580C>G (p.Pro1194Ala) c.3526C>G (p.Pro1176Ala) c.294C>G (n.294C>G) c.3502C>G (p.Pro1168Ala) c.1066C>G c.3127C>G (p.Pro1043Ala) n.2042C>G n.1144C>G c.5260C>G (p.Pro1754Ala) c.5302C>G (p.Pro1768Ala) c.5281C>G (p.Pro1761Ala) c.5275C>G (p.Pro1759Ala) c.5254C>G (p.Pro1752Ala) c.4165C>G (p.Pro1389Ala) c.5263C>G (p.Pro1755Ala) n.1145C>G
11	g.70473129G>T	CA381675736	SHANK2	c.3523C>A (p.Pro1175Thr) c.1068C>A (n.1068C>A) c.5290C>A (p.Pro1764Thr) c.2799C>A c.4153C>A (p.Pro1385Thr) c.3580C>A (p.Pro1194Thr) c.3526C>A (p.Pro1176Thr) c.294C>A (n.294C>A) c.3502C>A (p.Pro1168Thr) c.1066C>A c.3127C>A (p.Pro1043Thr) n.2042C>A n.1144C>A c.5260C>A (p.Pro1754Thr) c.5302C>A (p.Pro1768Thr) c.5281C>A (p.Pro1761Thr) c.5275C>A (p.Pro1759Thr) c.5254C>A (p.Pro1752Thr) c.4165C>A (p.Pro1389Thr) c.5263C>A (p.Pro1755Thr) n.1145C>A
11	g.70473130C>A	CA475471126	SHANK2	c.3522G>T (p.Ser1174=) c.1067G>T (n.1067G>T) c.5289G>T (p.Ser1763=) c.2798G>T c.4152G>T (p.Ser1384=) c.3579G>T (p.Ser1193=) c.3525G>T (p.Ser1175=) c.293G>T (n.293G>T) c.3501G>T (p.Ser1167=) c.1065G>T c.3126G>T (p.Ser1042=) n.2041G>T n.1143G>T c.5259G>T (p.Ser1753=) c.5301G>T (p.Ser1767=) c.5280G>T (p.Ser1760=) c.5274G>T (p.Ser1758=) c.5253G>T (p.Ser1751=) c.4164G>T (p.Ser1388=) c.5262G>T (p.Ser1754=) n.1144G>T
11	g.70473130C=	CA1981067921	SHANK2	c.3522G= (p.Ser1174=) c.1067G= (n.1067G=) c.5289G= (p.Ser1763=) c.2798G= c.4152G= (p.Ser1384=) c.3579G= (p.Ser1193=) c.3525G= (p.Ser1175=) c.293G= (n.293G=) c.3501G= (p.Ser1167=) c.1065G= c.3126G= (p.Ser1042=) n.2041G= n.1143G= c.5259G= (p.Ser1753=) c.5301G= (p.Ser1767=) c.5280G= (p.Ser1760=) c.5274G= (p.Ser1758=) c.5253G= (p.Ser1751=) c.4164G= (p.Ser1388=) c.5262G= (p.Ser1754=) n.1144G=
11	g.70473130C>G	CA475471127	SHANK2	c.3522G>C (p.Ser1174=) c.1067G>C (n.1067G>C) c.5289G>C (p.Ser1763=) c.2798G>C c.4152G>C (p.Ser1384=) c.3579G>C (p.Ser1193=) c.3525G>C (p.Ser1175=) c.293G>C (n.293G>C) c.3501G>C (p.Ser1167=) c.1065G>C c.3126G>C (p.Ser1042=) n.2041G>C n.1143G>C c.5259G>C (p.Ser1753=) c.5301G>C (p.Ser1767=) c.5280G>C (p.Ser1760=) c.5274G>C (p.Ser1758=) c.5253G>C (p.Ser1751=) c.4164G>C (p.Ser1388=) c.5262G>C (p.Ser1754=) n.1144G>C	dbSNP gnomAD v3 gnomAD v4
11	g.70473130C>T	CA6160726	SHANK2	c.3522G>A (p.Ser1174=) c.1067G>A (n.1067G>A) c.5289G>A (p.Ser1763=) c.2798G>A c.4152G>A (p.Ser1384=) c.3579G>A (p.Ser1193=) c.3525G>A (p.Ser1175=) c.293G>A (n.293G>A) c.3501G>A (p.Ser1167=) c.1065G>A c.3126G>A (p.Ser1042=) n.2041G>A n.1143G>A c.5259G>A (p.Ser1753=) c.5301G>A (p.Ser1767=) c.5280G>A (p.Ser1760=) c.5274G>A (p.Ser1758=) c.5253G>A (p.Ser1751=) c.4164G>A (p.Ser1388=) c.5262G>A (p.Ser1754=) n.1144G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473131G>A	CA381675744	SHANK2	c.3521C>T (p.Ser1174Leu) c.1066C>T (n.1066C>T) c.5288C>T (p.Ser1763Leu) c.2797C>T c.4151C>T (p.Ser1384Leu) c.3578C>T (p.Ser1193Leu) c.3524C>T (p.Ser1175Leu) c.292C>T (n.292C>T) c.3500C>T (p.Ser1167Leu) c.1064C>T c.3125C>T (p.Ser1042Leu) n.2040C>T n.1142C>T c.5258C>T (p.Ser1753Leu) c.5300C>T (p.Ser1767Leu) c.5279C>T (p.Ser1760Leu) c.5273C>T (p.Ser1758Leu) c.5252C>T (p.Ser1751Leu) c.4163C>T (p.Ser1388Leu) c.5261C>T (p.Ser1754Leu) n.1143C>T	gnomAD v4
11	g.70473131G>C	CA381675747	SHANK2	c.3521C>G (p.Ser1174Trp) c.1066C>G (n.1066C>G) c.5288C>G (p.Ser1763Trp) c.2797C>G c.4151C>G (p.Ser1384Trp) c.3578C>G (p.Ser1193Trp) c.3524C>G (p.Ser1175Trp) c.292C>G (n.292C>G) c.3500C>G (p.Ser1167Trp) c.1064C>G c.3125C>G (p.Ser1042Trp) n.2040C>G n.1142C>G c.5258C>G (p.Ser1753Trp) c.5300C>G (p.Ser1767Trp) c.5279C>G (p.Ser1760Trp) c.5273C>G (p.Ser1758Trp) c.5252C>G (p.Ser1751Trp) c.4163C>G (p.Ser1388Trp) c.5261C>G (p.Ser1754Trp) n.1143C>G
11	g.70473131G>T	CA381675751	SHANK2	c.3521C>A (p.Ser1174Ter) c.1066C>A (n.1066C>A) c.5288C>A (p.Ser1763Ter) c.2797C>A c.4151C>A (p.Ser1384Ter) c.3578C>A (p.Ser1193Ter) c.3524C>A (p.Ser1175Ter) c.292C>A (n.292C>A) c.3500C>A (p.Ser1167Ter) c.1064C>A c.3125C>A (p.Ser1042Ter) n.2040C>A n.1142C>A c.5258C>A (p.Ser1753Ter) c.5300C>A (p.Ser1767Ter) c.5279C>A (p.Ser1760Ter) c.5273C>A (p.Ser1758Ter) c.5252C>A (p.Ser1751Ter) c.4163C>A (p.Ser1388Ter) c.5261C>A (p.Ser1754Ter) n.1143C>A	gnomAD v4
11	g.70473132A=	CA1981067922	SHANK2	c.3520T= (p.Ser1174=) c.1065T= (n.1065T=) c.5287T= (p.Ser1763=) c.2796T= c.4150T= (p.Ser1384=) c.3577T= (p.Ser1193=) c.3523T= (p.Ser1175=) c.291T= (n.291T=) c.3499T= (p.Ser1167=) c.1063T= c.3124T= (p.Ser1042=) n.2039T= n.1141T= c.5257T= (p.Ser1753=) c.5299T= (p.Ser1767=) c.5278T= (p.Ser1760=) c.5272T= (p.Ser1758=) c.5251T= (p.Ser1751=) c.4162T= (p.Ser1388=) c.5260T= (p.Ser1754=) n.1142T=
11	g.70473132A>C	CA381675756	SHANK2	c.3520T>G (p.Ser1174Ala) c.1065T>G (n.1065T>G) c.5287T>G (p.Ser1763Ala) c.2796T>G c.4150T>G (p.Ser1384Ala) c.3577T>G (p.Ser1193Ala) c.3523T>G (p.Ser1175Ala) c.291T>G (n.291T>G) c.3499T>G (p.Ser1167Ala) c.1063T>G c.3124T>G (p.Ser1042Ala) n.2039T>G n.1141T>G c.5257T>G (p.Ser1753Ala) c.5299T>G (p.Ser1767Ala) c.5278T>G (p.Ser1760Ala) c.5272T>G (p.Ser1758Ala) c.5251T>G (p.Ser1751Ala) c.4162T>G (p.Ser1388Ala) c.5260T>G (p.Ser1754Ala) n.1142T>G	dbSNP
11	g.70473132A>G	CA381675754	SHANK2	c.3520T>C (p.Ser1174Pro) c.1065T>C (n.1065T>C) c.5287T>C (p.Ser1763Pro) c.2796T>C c.4150T>C (p.Ser1384Pro) c.3577T>C (p.Ser1193Pro) c.3523T>C (p.Ser1175Pro) c.291T>C (n.291T>C) c.3499T>C (p.Ser1167Pro) c.1063T>C c.3124T>C (p.Ser1042Pro) n.2039T>C n.1141T>C c.5257T>C (p.Ser1753Pro) c.5299T>C (p.Ser1767Pro) c.5278T>C (p.Ser1760Pro) c.5272T>C (p.Ser1758Pro) c.5251T>C (p.Ser1751Pro) c.4162T>C (p.Ser1388Pro) c.5260T>C (p.Ser1754Pro) n.1142T>C
11	g.70473132A>T	CA381675755	SHANK2	c.3520T>A (p.Ser1174Thr) c.1065T>A (n.1065T>A) c.5287T>A (p.Ser1763Thr) c.2796T>A c.4150T>A (p.Ser1384Thr) c.3577T>A (p.Ser1193Thr) c.3523T>A (p.Ser1175Thr) c.291T>A (n.291T>A) c.3499T>A (p.Ser1167Thr) c.1063T>A c.3124T>A (p.Ser1042Thr) n.2039T>A n.1141T>A c.5257T>A (p.Ser1753Thr) c.5299T>A (p.Ser1767Thr) c.5278T>A (p.Ser1760Thr) c.5272T>A (p.Ser1758Thr) c.5251T>A (p.Ser1751Thr) c.4162T>A (p.Ser1388Thr) c.5260T>A (p.Ser1754Thr) n.1142T>A
11	g.70473133C>A	CA381675758	SHANK2	c.3519G>T (p.Arg1173Ser) c.1064G>T (n.1064G>T) c.5286G>T (p.Arg1762Ser) c.2795G>T c.4149G>T (p.Arg1383Ser) c.3576G>T (p.Arg1192Ser) c.3522G>T (p.Arg1174Ser) c.290G>T (n.290G>T) c.3498G>T (p.Arg1166Ser) c.1062G>T c.3123G>T (p.Arg1041Ser) n.2038G>T n.1140G>T c.5256G>T (p.Arg1752Ser) c.5298G>T (p.Arg1766Ser) c.5277G>T (p.Arg1759Ser) c.5271G>T (p.Arg1757Ser) c.5250G>T (p.Arg1750Ser) c.4161G>T (p.Arg1387Ser) c.5259G>T (p.Arg1753Ser) n.1141G>T
11	g.70473133C>G	CA381675768	SHANK2	c.3519G>C (p.Arg1173Ser) c.1064G>C (n.1064G>C) c.5286G>C (p.Arg1762Ser) c.2795G>C c.4149G>C (p.Arg1383Ser) c.3576G>C (p.Arg1192Ser) c.3522G>C (p.Arg1174Ser) c.290G>C (n.290G>C) c.3498G>C (p.Arg1166Ser) c.1062G>C c.3123G>C (p.Arg1041Ser) n.2038G>C n.1140G>C c.5256G>C (p.Arg1752Ser) c.5298G>C (p.Arg1766Ser) c.5277G>C (p.Arg1759Ser) c.5271G>C (p.Arg1757Ser) c.5250G>C (p.Arg1750Ser) c.4161G>C (p.Arg1387Ser) c.5259G>C (p.Arg1753Ser) n.1141G>C
11	g.70473133C>T	CA475471134	SHANK2	c.3519G>A (p.Arg1173=) c.1064G>A (n.1064G>A) c.5286G>A (p.Arg1762=) c.2795G>A c.4149G>A (p.Arg1383=) c.3576G>A (p.Arg1192=) c.3522G>A (p.Arg1174=) c.290G>A (n.290G>A) c.3498G>A (p.Arg1166=) c.1062G>A c.3123G>A (p.Arg1041=) n.2038G>A n.1140G>A c.5256G>A (p.Arg1752=) c.5298G>A (p.Arg1766=) c.5277G>A (p.Arg1759=) c.5271G>A (p.Arg1757=) c.5250G>A (p.Arg1750=) c.4161G>A (p.Arg1387=) c.5259G>A (p.Arg1753=) n.1141G>A	gnomAD v4
11	g.70473134C>A	CA381675771	SHANK2	c.3518G>T (p.Arg1173Met) c.1063G>T (n.1063G>T) c.5285G>T (p.Arg1762Met) c.2794G>T c.4148G>T (p.Arg1383Met) c.3575G>T (p.Arg1192Met) c.3521G>T (p.Arg1174Met) c.289G>T (n.289G>T) c.3497G>T (p.Arg1166Met) c.1061G>T c.3122G>T (p.Arg1041Met) n.2037G>T n.1139G>T c.5255G>T (p.Arg1752Met) c.5297G>T (p.Arg1766Met) c.5276G>T (p.Arg1759Met) c.5270G>T (p.Arg1757Met) c.5249G>T (p.Arg1750Met) c.4160G>T (p.Arg1387Met) c.5258G>T (p.Arg1753Met) n.1140G>T
11	g.70473134C=	CA1981067923	SHANK2	c.3518G= (p.Arg1173=) c.1063G= (n.1063G=) c.5285G= (p.Arg1762=) c.2794G= c.4148G= (p.Arg1383=) c.3575G= (p.Arg1192=) c.3521G= (p.Arg1174=) c.289G= (n.289G=) c.3497G= (p.Arg1166=) c.1061G= c.3122G= (p.Arg1041=) n.2037G= n.1139G= c.5255G= (p.Arg1752=) c.5297G= (p.Arg1766=) c.5276G= (p.Arg1759=) c.5270G= (p.Arg1757=) c.5249G= (p.Arg1750=) c.4160G= (p.Arg1387=) c.5258G= (p.Arg1753=) n.1140G=
11	g.70473134C>G	CA6160727	SHANK2	c.3518G>C (p.Arg1173Thr) c.1063G>C (n.1063G>C) c.5285G>C (p.Arg1762Thr) c.2794G>C c.4148G>C (p.Arg1383Thr) c.3575G>C (p.Arg1192Thr) c.3521G>C (p.Arg1174Thr) c.289G>C (n.289G>C) c.3497G>C (p.Arg1166Thr) c.1061G>C c.3122G>C (p.Arg1041Thr) n.2037G>C n.1139G>C c.5255G>C (p.Arg1752Thr) c.5297G>C (p.Arg1766Thr) c.5276G>C (p.Arg1759Thr) c.5270G>C (p.Arg1757Thr) c.5249G>C (p.Arg1750Thr) c.4160G>C (p.Arg1387Thr) c.5258G>C (p.Arg1753Thr) n.1140G>C	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473134C>T	CA381675780	SHANK2	c.3518G>A (p.Arg1173Lys) c.1063G>A (n.1063G>A) c.5285G>A (p.Arg1762Lys) c.2794G>A c.4148G>A (p.Arg1383Lys) c.3575G>A (p.Arg1192Lys) c.3521G>A (p.Arg1174Lys) c.289G>A (n.289G>A) c.3497G>A (p.Arg1166Lys) c.1061G>A c.3122G>A (p.Arg1041Lys) n.2037G>A n.1139G>A c.5255G>A (p.Arg1752Lys) c.5297G>A (p.Arg1766Lys) c.5276G>A (p.Arg1759Lys) c.5270G>A (p.Arg1757Lys) c.5249G>A (p.Arg1750Lys) c.4160G>A (p.Arg1387Lys) c.5258G>A (p.Arg1753Lys) n.1140G>A	gnomAD v4
11	g.70473136_70473138del	CA2574908642	SHANK2	c.3516_3518del (p.Ser1172del) c.1061_1063del (n.1061_1063del) c.5283_5285del (p.Ser1761del) c.2792_2794del c.4146_4148del (p.Ser1382del) c.3573_3575del (p.Ser1191del) c.3519_3521del (p.Ser1173del) c.287_289del (n.287_289del) c.3495_3497del (p.Ser1165del) c.1059_1061del c.3120_3122del (p.Ser1040del) n.2035_2037del n.1137_1139del c.5253_5255del (p.Ser1751del) c.5295_5297del (p.Ser1765del) c.5274_5276del (p.Ser1758del) c.5268_5270del (p.Ser1756del) c.5247_5249del (p.Ser1749del) c.4158_4160del (p.Ser1386del) c.5256_5258del (p.Ser1752del) n.1138_1140del
11	g.70473135T>A	CA381675783	SHANK2	c.3517A>T (p.Arg1173Trp) c.1062A>T (n.1062A>T) c.5284A>T (p.Arg1762Trp) c.2793A>T c.4147A>T (p.Arg1383Trp) c.3574A>T (p.Arg1192Trp) c.3520A>T (p.Arg1174Trp) c.288A>T (n.288A>T) c.3496A>T (p.Arg1166Trp) c.1060A>T c.3121A>T (p.Arg1041Trp) n.2036A>T n.1138A>T c.5254A>T (p.Arg1752Trp) c.5296A>T (p.Arg1766Trp) c.5275A>T (p.Arg1759Trp) c.5269A>T (p.Arg1757Trp) c.5248A>T (p.Arg1750Trp) c.4159A>T (p.Arg1387Trp) c.5257A>T (p.Arg1753Trp) n.1139A>T
11	g.70473135T>C	CA381675785	SHANK2	c.3517A>G (p.Arg1173Gly) c.1062A>G (n.1062A>G) c.5284A>G (p.Arg1762Gly) c.2793A>G c.4147A>G (p.Arg1383Gly) c.3574A>G (p.Arg1192Gly) c.3520A>G (p.Arg1174Gly) c.288A>G (n.288A>G) c.3496A>G (p.Arg1166Gly) c.1060A>G c.3121A>G (p.Arg1041Gly) n.2036A>G n.1138A>G c.5254A>G (p.Arg1752Gly) c.5296A>G (p.Arg1766Gly) c.5275A>G (p.Arg1759Gly) c.5269A>G (p.Arg1757Gly) c.5248A>G (p.Arg1750Gly) c.4159A>G (p.Arg1387Gly) c.5257A>G (p.Arg1753Gly) n.1139A>G
11	g.70473135T>G	CA475471135	SHANK2	c.3517A>C (p.Arg1173=) c.1062A>C (n.1062A>C) c.5284A>C (p.Arg1762=) c.2793A>C c.4147A>C (p.Arg1383=) c.3574A>C (p.Arg1192=) c.3520A>C (p.Arg1174=) c.288A>C (n.288A>C) c.3496A>C (p.Arg1166=) c.1060A>C c.3121A>C (p.Arg1041=) n.2036A>C n.1138A>C c.5254A>C (p.Arg1752=) c.5296A>C (p.Arg1766=) c.5275A>C (p.Arg1759=) c.5269A>C (p.Arg1757=) c.5248A>C (p.Arg1750=) c.4159A>C (p.Arg1387=) c.5257A>C (p.Arg1753=) n.1139A>C
11	g.70473136A>C	CA381675786	SHANK2	c.3516T>G (p.Ser1172Arg) c.1061T>G (n.1061T>G) c.5283T>G (p.Ser1761Arg) c.2792T>G c.4146T>G (p.Ser1382Arg) c.3573T>G (p.Ser1191Arg) c.3519T>G (p.Ser1173Arg) c.287T>G (n.287T>G) c.3495T>G (p.Ser1165Arg) c.1059T>G c.3120T>G (p.Ser1040Arg) n.2035T>G n.1137T>G c.5253T>G (p.Ser1751Arg) c.5295T>G (p.Ser1765Arg) c.5274T>G (p.Ser1758Arg) c.5268T>G (p.Ser1756Arg) c.5247T>G (p.Ser1749Arg) c.4158T>G (p.Ser1386Arg) c.5256T>G (p.Ser1752Arg) n.1138T>G
11	g.70473136A>G	CA475471137	SHANK2	c.3516T>C (p.Ser1172=) c.1061T>C (n.1061T>C) c.5283T>C (p.Ser1761=) c.2792T>C c.4146T>C (p.Ser1382=) c.3573T>C (p.Ser1191=) c.3519T>C (p.Ser1173=) c.287T>C (n.287T>C) c.3495T>C (p.Ser1165=) c.1059T>C c.3120T>C (p.Ser1040=) n.2035T>C n.1137T>C c.5253T>C (p.Ser1751=) c.5295T>C (p.Ser1765=) c.5274T>C (p.Ser1758=) c.5268T>C (p.Ser1756=) c.5247T>C (p.Ser1749=) c.4158T>C (p.Ser1386=) c.5256T>C (p.Ser1752=) n.1138T>C
11	g.70473136A>T	CA381675787	SHANK2	c.3516T>A (p.Ser1172Arg) c.1061T>A (n.1061T>A) c.5283T>A (p.Ser1761Arg) c.2792T>A c.4146T>A (p.Ser1382Arg) c.3573T>A (p.Ser1191Arg) c.3519T>A (p.Ser1173Arg) c.287T>A (n.287T>A) c.3495T>A (p.Ser1165Arg) c.1059T>A c.3120T>A (p.Ser1040Arg) n.2035T>A n.1137T>A c.5253T>A (p.Ser1751Arg) c.5295T>A (p.Ser1765Arg) c.5274T>A (p.Ser1758Arg) c.5268T>A (p.Ser1756Arg) c.5247T>A (p.Ser1749Arg) c.4158T>A (p.Ser1386Arg) c.5256T>A (p.Ser1752Arg) n.1138T>A
11	g.70473137C>A	CA381675790	SHANK2	c.3515G>T (p.Ser1172Ile) c.1060G>T (n.1060G>T) c.5282G>T (p.Ser1761Ile) c.2791G>T c.4145G>T (p.Ser1382Ile) c.3572G>T (p.Ser1191Ile) c.3518G>T (p.Ser1173Ile) c.286G>T (n.286G>T) c.3494G>T (p.Ser1165Ile) c.1058G>T c.3119G>T (p.Ser1040Ile) n.2034G>T n.1136G>T c.5252G>T (p.Ser1751Ile) c.5294G>T (p.Ser1765Ile) c.5273G>T (p.Ser1758Ile) c.5267G>T (p.Ser1756Ile) c.5246G>T (p.Ser1749Ile) c.4157G>T (p.Ser1386Ile) c.5255G>T (p.Ser1752Ile) n.1137G>T
11	g.70473137C>G	CA381675795	SHANK2	c.3515G>C (p.Ser1172Thr) c.1060G>C (n.1060G>C) c.5282G>C (p.Ser1761Thr) c.2791G>C c.4145G>C (p.Ser1382Thr) c.3572G>C (p.Ser1191Thr) c.3518G>C (p.Ser1173Thr) c.286G>C (n.286G>C) c.3494G>C (p.Ser1165Thr) c.1058G>C c.3119G>C (p.Ser1040Thr) n.2034G>C n.1136G>C c.5252G>C (p.Ser1751Thr) c.5294G>C (p.Ser1765Thr) c.5273G>C (p.Ser1758Thr) c.5267G>C (p.Ser1756Thr) c.5246G>C (p.Ser1749Thr) c.4157G>C (p.Ser1386Thr) c.5255G>C (p.Ser1752Thr) n.1137G>C
11	g.70473137C>T	CA381675797	SHANK2	c.3515G>A (p.Ser1172Asn) c.1060G>A (n.1060G>A) c.5282G>A (p.Ser1761Asn) c.2791G>A c.4145G>A (p.Ser1382Asn) c.3572G>A (p.Ser1191Asn) c.3518G>A (p.Ser1173Asn) c.286G>A (n.286G>A) c.3494G>A (p.Ser1165Asn) c.1058G>A c.3119G>A (p.Ser1040Asn) n.2034G>A n.1136G>A c.5252G>A (p.Ser1751Asn) c.5294G>A (p.Ser1765Asn) c.5273G>A (p.Ser1758Asn) c.5267G>A (p.Ser1756Asn) c.5246G>A (p.Ser1749Asn) c.4157G>A (p.Ser1386Asn) c.5255G>A (p.Ser1752Asn) n.1137G>A
11	g.70473138T>A	CA381675800	SHANK2	c.3514A>T (p.Ser1172Cys) c.1059A>T (n.1059A>T) c.5281A>T (p.Ser1761Cys) c.2790A>T c.4144A>T (p.Ser1382Cys) c.3571A>T (p.Ser1191Cys) c.3517A>T (p.Ser1173Cys) c.285A>T (n.285A>T) c.3493A>T (p.Ser1165Cys) c.1057A>T c.3118A>T (p.Ser1040Cys) n.2033A>T n.1135A>T c.5251A>T (p.Ser1751Cys) c.5293A>T (p.Ser1765Cys) c.5272A>T (p.Ser1758Cys) c.5266A>T (p.Ser1756Cys) c.5245A>T (p.Ser1749Cys) c.4156A>T (p.Ser1386Cys) c.5254A>T (p.Ser1752Cys) n.1136A>T
11	g.70473138T>C	CA381675801	SHANK2	c.3514A>G (p.Ser1172Gly) c.1059A>G (n.1059A>G) c.5281A>G (p.Ser1761Gly) c.2790A>G c.4144A>G (p.Ser1382Gly) c.3571A>G (p.Ser1191Gly) c.3517A>G (p.Ser1173Gly) c.285A>G (n.285A>G) c.3493A>G (p.Ser1165Gly) c.1057A>G c.3118A>G (p.Ser1040Gly) n.2033A>G n.1135A>G c.5251A>G (p.Ser1751Gly) c.5293A>G (p.Ser1765Gly) c.5272A>G (p.Ser1758Gly) c.5266A>G (p.Ser1756Gly) c.5245A>G (p.Ser1749Gly) c.4156A>G (p.Ser1386Gly) c.5254A>G (p.Ser1752Gly) n.1136A>G
11	g.70473138T>G	CA381675799	SHANK2	c.3514A>C (p.Ser1172Arg) c.1059A>C (n.1059A>C) c.5281A>C (p.Ser1761Arg) c.2790A>C c.4144A>C (p.Ser1382Arg) c.3571A>C (p.Ser1191Arg) c.3517A>C (p.Ser1173Arg) c.285A>C (n.285A>C) c.3493A>C (p.Ser1165Arg) c.1057A>C c.3118A>C (p.Ser1040Arg) n.2033A>C n.1135A>C c.5251A>C (p.Ser1751Arg) c.5293A>C (p.Ser1765Arg) c.5272A>C (p.Ser1758Arg) c.5266A>C (p.Ser1756Arg) c.5245A>C (p.Ser1749Arg) c.4156A>C (p.Ser1386Arg) c.5254A>C (p.Ser1752Arg) n.1136A>C
11	g.70473139G>A	CA6160728	SHANK2	c.3513C>T (p.Arg1171=) c.1058C>T (n.1058C>T) c.5280C>T (p.Arg1760=) c.2789C>T c.4143C>T (p.Arg1381=) c.3570C>T (p.Arg1190=) c.3516C>T (p.Arg1172=) c.284C>T (n.284C>T) c.3492C>T (p.Arg1164=) c.1056C>T c.3117C>T (p.Arg1039=) n.2032C>T n.1134C>T c.5250C>T (p.Arg1750=) c.5292C>T (p.Arg1764=) c.5271C>T (p.Arg1757=) c.5265C>T (p.Arg1755=) c.5244C>T (p.Arg1748=) c.4155C>T (p.Arg1385=) c.5253C>T (p.Arg1751=) n.1135C>T	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473139G>C	CA475471140	SHANK2	c.3513C>G (p.Arg1171=) c.1058C>G (n.1058C>G) c.5280C>G (p.Arg1760=) c.2789C>G c.4143C>G (p.Arg1381=) c.3570C>G (p.Arg1190=) c.3516C>G (p.Arg1172=) c.284C>G (n.284C>G) c.3492C>G (p.Arg1164=) c.1056C>G c.3117C>G (p.Arg1039=) n.2032C>G n.1134C>G c.5250C>G (p.Arg1750=) c.5292C>G (p.Arg1764=) c.5271C>G (p.Arg1757=) c.5265C>G (p.Arg1755=) c.5244C>G (p.Arg1748=) c.4155C>G (p.Arg1385=) c.5253C>G (p.Arg1751=) n.1135C>G
11	g.70473139G=	CA1981067924	SHANK2	c.3513C= (p.Arg1171=) c.1058C= (n.1058C=) c.5280C= (p.Arg1760=) c.2789C= c.4143C= (p.Arg1381=) c.3570C= (p.Arg1190=) c.3516C= (p.Arg1172=) c.284C= (n.284C=) c.3492C= (p.Arg1164=) c.1056C= c.3117C= (p.Arg1039=) n.2032C= n.1134C= c.5250C= (p.Arg1750=) c.5292C= (p.Arg1764=) c.5271C= (p.Arg1757=) c.5265C= (p.Arg1755=) c.5244C= (p.Arg1748=) c.4155C= (p.Arg1385=) c.5253C= (p.Arg1751=) n.1135C=
11	g.70473139G>T	CA475471142	SHANK2	c.3513C>A (p.Arg1171=) c.1058C>A (n.1058C>A) c.5280C>A (p.Arg1760=) c.2789C>A c.4143C>A (p.Arg1381=) c.3570C>A (p.Arg1190=) c.3516C>A (p.Arg1172=) c.284C>A (n.284C>A) c.3492C>A (p.Arg1164=) c.1056C>A c.3117C>A (p.Arg1039=) n.2032C>A n.1134C>A c.5250C>A (p.Arg1750=) c.5292C>A (p.Arg1764=) c.5271C>A (p.Arg1757=) c.5265C>A (p.Arg1755=) c.5244C>A (p.Arg1748=) c.4155C>A (p.Arg1385=) c.5253C>A (p.Arg1751=) n.1135C>A
11	g.70473140C>A	CA381675803	SHANK2	c.3512G>T (p.Arg1171Leu) c.1057G>T (n.1057G>T) c.5279G>T (p.Arg1760Leu) c.2788G>T c.4142G>T (p.Arg1381Leu) c.3569G>T (p.Arg1190Leu) c.3515G>T (p.Arg1172Leu) c.283G>T (n.283G>T) c.3491G>T (p.Arg1164Leu) c.1055G>T c.3116G>T (p.Arg1039Leu) n.2031G>T n.1133G>T c.5249G>T (p.Arg1750Leu) c.5291G>T (p.Arg1764Leu) c.5270G>T (p.Arg1757Leu) c.5264G>T (p.Arg1755Leu) c.5243G>T (p.Arg1748Leu) c.4154G>T (p.Arg1385Leu) c.5252G>T (p.Arg1751Leu) n.1134G>T
11	g.70473140C=	CA1981067925	SHANK2	c.3512G= (p.Arg1171=) c.1057G= (n.1057G=) c.5279G= (p.Arg1760=) c.2788G= c.4142G= (p.Arg1381=) c.3569G= (p.Arg1190=) c.3515G= (p.Arg1172=) c.283G= (n.283G=) c.3491G= (p.Arg1164=) c.1055G= c.3116G= (p.Arg1039=) n.2031G= n.1133G= c.5249G= (p.Arg1750=) c.5291G= (p.Arg1764=) c.5270G= (p.Arg1757=) c.5264G= (p.Arg1755=) c.5243G= (p.Arg1748=) c.4154G= (p.Arg1385=) c.5252G= (p.Arg1751=) n.1134G=
11	g.70473140C>G	CA381675804	SHANK2	c.3512G>C (p.Arg1171Pro) c.1057G>C (n.1057G>C) c.5279G>C (p.Arg1760Pro) c.2788G>C c.4142G>C (p.Arg1381Pro) c.3569G>C (p.Arg1190Pro) c.3515G>C (p.Arg1172Pro) c.283G>C (n.283G>C) c.3491G>C (p.Arg1164Pro) c.1055G>C c.3116G>C (p.Arg1039Pro) n.2031G>C n.1133G>C c.5249G>C (p.Arg1750Pro) c.5291G>C (p.Arg1764Pro) c.5270G>C (p.Arg1757Pro) c.5264G>C (p.Arg1755Pro) c.5243G>C (p.Arg1748Pro) c.4154G>C (p.Arg1385Pro) c.5252G>C (p.Arg1751Pro) n.1134G>C
11	g.70473140C>T	CA6160729	SHANK2	c.3512G>A (p.Arg1171His) c.1057G>A (n.1057G>A) c.5279G>A (p.Arg1760His) c.2788G>A c.4142G>A (p.Arg1381His) c.3569G>A (p.Arg1190His) c.3515G>A (p.Arg1172His) c.283G>A (n.283G>A) c.3491G>A (p.Arg1164His) c.1055G>A c.3116G>A (p.Arg1039His) n.2031G>A n.1133G>A c.5249G>A (p.Arg1750His) c.5291G>A (p.Arg1764His) c.5270G>A (p.Arg1757His) c.5264G>A (p.Arg1755His) c.5243G>A (p.Arg1748His) c.4154G>A (p.Arg1385His) c.5252G>A (p.Arg1751His) n.1134G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473141G>A	CA381675807	SHANK2	c.3511C>T (p.Arg1171Cys) c.1056C>T (n.1056C>T) c.5278C>T (p.Arg1760Cys) c.2787C>T c.4141C>T (p.Arg1381Cys) c.3568C>T (p.Arg1190Cys) c.3514C>T (p.Arg1172Cys) c.282C>T (n.282C>T) c.3490C>T (p.Arg1164Cys) c.1054C>T c.3115C>T (p.Arg1039Cys) n.2030C>T n.1132C>T c.5248C>T (p.Arg1750Cys) c.5290C>T (p.Arg1764Cys) c.5269C>T (p.Arg1757Cys) c.5263C>T (p.Arg1755Cys) c.5242C>T (p.Arg1748Cys) c.4153C>T (p.Arg1385Cys) c.5251C>T (p.Arg1751Cys) n.1133C>T	gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473141G>C	CA381675808	SHANK2	c.3511C>G (p.Arg1171Gly) c.1056C>G (n.1056C>G) c.5278C>G (p.Arg1760Gly) c.2787C>G c.4141C>G (p.Arg1381Gly) c.3568C>G (p.Arg1190Gly) c.3514C>G (p.Arg1172Gly) c.282C>G (n.282C>G) c.3490C>G (p.Arg1164Gly) c.1054C>G c.3115C>G (p.Arg1039Gly) n.2030C>G n.1132C>G c.5248C>G (p.Arg1750Gly) c.5290C>G (p.Arg1764Gly) c.5269C>G (p.Arg1757Gly) c.5263C>G (p.Arg1755Gly) c.5242C>G (p.Arg1748Gly) c.4153C>G (p.Arg1385Gly) c.5251C>G (p.Arg1751Gly) n.1133C>G
11	g.70473141G>T	CA381675809	SHANK2	c.3511C>A (p.Arg1171Ser) c.1056C>A (n.1056C>A) c.5278C>A (p.Arg1760Ser) c.2787C>A c.4141C>A (p.Arg1381Ser) c.3568C>A (p.Arg1190Ser) c.3514C>A (p.Arg1172Ser) c.282C>A (n.282C>A) c.3490C>A (p.Arg1164Ser) c.1054C>A c.3115C>A (p.Arg1039Ser) n.2030C>A n.1132C>A c.5248C>A (p.Arg1750Ser) c.5290C>A (p.Arg1764Ser) c.5269C>A (p.Arg1757Ser) c.5263C>A (p.Arg1755Ser) c.5242C>A (p.Arg1748Ser) c.4153C>A (p.Arg1385Ser) c.5251C>A (p.Arg1751Ser) n.1133C>A
11	g.70473142del	CA2534072154	SHANK2	c.3510del (p.Arg1171AlafsTer?) c.1055del (n.1055del) c.5277del (p.Arg1760AlafsTer?) c.2786del c.4140del (p.Arg1381AlafsTer?) c.3567del (p.Arg1190AlafsTer?) c.3513del (p.Arg1172AlafsTer?) c.281del (n.281del) c.3489del (p.Arg1164AlafsTer?) c.1053del c.3114del (p.Arg1039AlafsTer?) n.2029del n.1131del c.5247del (p.Arg1750AlafsTer?) c.5289del (p.Arg1764AlafsTer?) c.5268del (p.Arg1757AlafsTer?) c.5262del (p.Arg1755AlafsTer?) c.5241del (p.Arg1748AlafsTer?) c.4152del (p.Arg1385AlafsTer?) c.5250del (p.Arg1751AlafsTer?) n.1132del
11	g.70473142T>A	CA475471144	SHANK2	c.3510A>T (p.Gly1170=) c.1055A>T (n.1055A>T) c.5277A>T (p.Gly1759=) c.2786A>T c.4140A>T (p.Gly1380=) c.3567A>T (p.Gly1189=) c.3513A>T (p.Gly1171=) c.281A>T (n.281A>T) c.3489A>T (p.Gly1163=) c.1053A>T c.3114A>T (p.Gly1038=) n.2029A>T n.1131A>T c.5247A>T (p.Gly1749=) c.5289A>T (p.Gly1763=) c.5268A>T (p.Gly1756=) c.5262A>T (p.Gly1754=) c.5241A>T (p.Gly1747=) c.4152A>T (p.Gly1384=) c.5250A>T (p.Gly1750=) n.1132A>T
11	g.70473142T>C	CA475471146	SHANK2	c.3510A>G (p.Gly1170=) c.1055A>G (n.1055A>G) c.5277A>G (p.Gly1759=) c.2786A>G c.4140A>G (p.Gly1380=) c.3567A>G (p.Gly1189=) c.3513A>G (p.Gly1171=) c.281A>G (n.281A>G) c.3489A>G (p.Gly1163=) c.1053A>G c.3114A>G (p.Gly1038=) n.2029A>G n.1131A>G c.5247A>G (p.Gly1749=) c.5289A>G (p.Gly1763=) c.5268A>G (p.Gly1756=) c.5262A>G (p.Gly1754=) c.5241A>G (p.Gly1747=) c.4152A>G (p.Gly1384=) c.5250A>G (p.Gly1750=) n.1132A>G
11	g.70473142T>G	CA475471145	SHANK2	c.3510A>C (p.Gly1170=) c.1055A>C (n.1055A>C) c.5277A>C (p.Gly1759=) c.2786A>C c.4140A>C (p.Gly1380=) c.3567A>C (p.Gly1189=) c.3513A>C (p.Gly1171=) c.281A>C (n.281A>C) c.3489A>C (p.Gly1163=) c.1053A>C c.3114A>C (p.Gly1038=) n.2029A>C n.1131A>C c.5247A>C (p.Gly1749=) c.5289A>C (p.Gly1763=) c.5268A>C (p.Gly1756=) c.5262A>C (p.Gly1754=) c.5241A>C (p.Gly1747=) c.4152A>C (p.Gly1384=) c.5250A>C (p.Gly1750=) n.1132A>C
11	g.70473143C>A	CA381675811	SHANK2	c.3509G>T (p.Gly1170Val) c.1054G>T (n.1054G>T) c.5276G>T (p.Gly1759Val) c.2785G>T c.4139G>T (p.Gly1380Val) c.3566G>T (p.Gly1189Val) c.3512G>T (p.Gly1171Val) c.280G>T (n.280G>T) c.3488G>T (p.Gly1163Val) c.1052G>T c.3113G>T (p.Gly1038Val) n.2028G>T n.1130G>T c.5246G>T (p.Gly1749Val) c.5288G>T (p.Gly1763Val) c.5267G>T (p.Gly1756Val) c.5261G>T (p.Gly1754Val) c.5240G>T (p.Gly1747Val) c.4151G>T (p.Gly1384Val) c.5249G>T (p.Gly1750Val) n.1131G>T
11	g.70473143C>G	CA381675814	SHANK2	c.3509G>C (p.Gly1170Ala) c.1054G>C (n.1054G>C) c.5276G>C (p.Gly1759Ala) c.2785G>C c.4139G>C (p.Gly1380Ala) c.3566G>C (p.Gly1189Ala) c.3512G>C (p.Gly1171Ala) c.280G>C (n.280G>C) c.3488G>C (p.Gly1163Ala) c.1052G>C c.3113G>C (p.Gly1038Ala) n.2028G>C n.1130G>C c.5246G>C (p.Gly1749Ala) c.5288G>C (p.Gly1763Ala) c.5267G>C (p.Gly1756Ala) c.5261G>C (p.Gly1754Ala) c.5240G>C (p.Gly1747Ala) c.4151G>C (p.Gly1384Ala) c.5249G>C (p.Gly1750Ala) n.1131G>C
11	g.70473143C>T	CA381675812	SHANK2	c.3509G>A (p.Gly1170Glu) c.1054G>A (n.1054G>A) c.5276G>A (p.Gly1759Glu) c.2785G>A c.4139G>A (p.Gly1380Glu) c.3566G>A (p.Gly1189Glu) c.3512G>A (p.Gly1171Glu) c.280G>A (n.280G>A) c.3488G>A (p.Gly1163Glu) c.1052G>A c.3113G>A (p.Gly1038Glu) n.2028G>A n.1130G>A c.5246G>A (p.Gly1749Glu) c.5288G>A (p.Gly1763Glu) c.5267G>A (p.Gly1756Glu) c.5261G>A (p.Gly1754Glu) c.5240G>A (p.Gly1747Glu) c.4151G>A (p.Gly1384Glu) c.5249G>A (p.Gly1750Glu) n.1131G>A
11	g.70473144C>A	CA381675815	SHANK2	c.3508G>T (p.Gly1170Ter) c.1053G>T (n.1053G>T) c.5275G>T (p.Gly1759Ter) c.2784G>T c.4138G>T (p.Gly1380Ter) c.3565G>T (p.Gly1189Ter) c.3511G>T (p.Gly1171Ter) c.279G>T (n.279G>T) c.3487G>T (p.Gly1163Ter) c.1051G>T c.3112G>T (p.Gly1038Ter) n.2027G>T n.1129G>T c.5245G>T (p.Gly1749Ter) c.5287G>T (p.Gly1763Ter) c.5266G>T (p.Gly1756Ter) c.5260G>T (p.Gly1754Ter) c.5239G>T (p.Gly1747Ter) c.4150G>T (p.Gly1384Ter) c.5248G>T (p.Gly1750Ter) n.1130G>T
11	g.70473144C>G	CA381675816	SHANK2	c.3508G>C (p.Gly1170Arg) c.1053G>C (n.1053G>C) c.5275G>C (p.Gly1759Arg) c.2784G>C c.4138G>C (p.Gly1380Arg) c.3565G>C (p.Gly1189Arg) c.3511G>C (p.Gly1171Arg) c.279G>C (n.279G>C) c.3487G>C (p.Gly1163Arg) c.1051G>C c.3112G>C (p.Gly1038Arg) n.2027G>C n.1129G>C c.5245G>C (p.Gly1749Arg) c.5287G>C (p.Gly1763Arg) c.5266G>C (p.Gly1756Arg) c.5260G>C (p.Gly1754Arg) c.5239G>C (p.Gly1747Arg) c.4150G>C (p.Gly1384Arg) c.5248G>C (p.Gly1750Arg) n.1130G>C
11	g.70473144C>T	CA381675817	SHANK2	c.3508G>A (p.Gly1170Arg) c.1053G>A (n.1053G>A) c.5275G>A (p.Gly1759Arg) c.2784G>A c.4138G>A (p.Gly1380Arg) c.3565G>A (p.Gly1189Arg) c.3511G>A (p.Gly1171Arg) c.279G>A (n.279G>A) c.3487G>A (p.Gly1163Arg) c.1051G>A c.3112G>A (p.Gly1038Arg) n.2027G>A n.1129G>A c.5245G>A (p.Gly1749Arg) c.5287G>A (p.Gly1763Arg) c.5266G>A (p.Gly1756Arg) c.5260G>A (p.Gly1754Arg) c.5239G>A (p.Gly1747Arg) c.4150G>A (p.Gly1384Arg) c.5248G>A (p.Gly1750Arg) n.1130G>A	gnomAD v4
11	g.70473145C>A	CA475471150	SHANK2	c.3507G>T (p.Ala1169=) c.1052G>T (n.1052G>T) c.5274G>T (p.Ala1758=) c.2783G>T c.4137G>T (p.Ala1379=) c.3564G>T (p.Ala1188=) c.3510G>T (p.Ala1170=) c.278G>T (n.278G>T) c.3486G>T (p.Ala1162=) c.1050G>T c.3111G>T (p.Ala1037=) n.2026G>T n.1128G>T c.5244G>T (p.Ala1748=) c.5286G>T (p.Ala1762=) c.5265G>T (p.Ala1755=) c.5259G>T (p.Ala1753=) c.5238G>T (p.Ala1746=) c.4149G>T (p.Ala1383=) c.5247G>T (p.Ala1749=) n.1129G>T	gnomAD v4
11	g.70473145C=	CA1981067926	SHANK2	c.3507G= (p.Ala1169=) c.1052G= (n.1052G=) c.5274G= (p.Ala1758=) c.2783G= c.4137G= (p.Ala1379=) c.3564G= (p.Ala1188=) c.3510G= (p.Ala1170=) c.278G= (n.278G=) c.3486G= (p.Ala1162=) c.1050G= c.3111G= (p.Ala1037=) n.2026G= n.1128G= c.5244G= (p.Ala1748=) c.5286G= (p.Ala1762=) c.5265G= (p.Ala1755=) c.5259G= (p.Ala1753=) c.5238G= (p.Ala1746=) c.4149G= (p.Ala1383=) c.5247G= (p.Ala1749=) n.1129G=
11	g.70473145C>G	CA475471151	SHANK2	c.3507G>C (p.Ala1169=) c.1052G>C (n.1052G>C) c.5274G>C (p.Ala1758=) c.2783G>C c.4137G>C (p.Ala1379=) c.3564G>C (p.Ala1188=) c.3510G>C (p.Ala1170=) c.278G>C (n.278G>C) c.3486G>C (p.Ala1162=) c.1050G>C c.3111G>C (p.Ala1037=) n.2026G>C n.1128G>C c.5244G>C (p.Ala1748=) c.5286G>C (p.Ala1762=) c.5265G>C (p.Ala1755=) c.5259G>C (p.Ala1753=) c.5238G>C (p.Ala1746=) c.4149G>C (p.Ala1383=) c.5247G>C (p.Ala1749=) n.1129G>C
11	g.70473145C>T	CA6160730	SHANK2	c.3507G>A (p.Ala1169=) c.1052G>A (n.1052G>A) c.5274G>A (p.Ala1758=) c.2783G>A c.4137G>A (p.Ala1379=) c.3564G>A (p.Ala1188=) c.3510G>A (p.Ala1170=) c.278G>A (n.278G>A) c.3486G>A (p.Ala1162=) c.1050G>A c.3111G>A (p.Ala1037=) n.2026G>A n.1128G>A c.5244G>A (p.Ala1748=) c.5286G>A (p.Ala1762=) c.5265G>A (p.Ala1755=) c.5259G>A (p.Ala1753=) c.5238G>A (p.Ala1746=) c.4149G>A (p.Ala1383=) c.5247G>A (p.Ala1749=) n.1129G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11	g.70473146_70473147del	CA2535764556	SHANK2	c.3506_3507del (p.Ala1169GlyfsTer4) c.1051_1052del (n.1051_1052del) c.5273_5274del (p.Ala1758GlyfsTer4) c.2782_2783del c.4136_4137del (p.Ala1379GlyfsTer4) c.3563_3564del (p.Ala1188GlyfsTer4) c.3509_3510del (p.Ala1170GlyfsTer4) c.277_278del (n.277_278del) c.3485_3486del (p.Ala1162GlyfsTer4) c.1049_1050del c.3110_3111del (p.Ala1037GlyfsTer4) n.2025_2026del n.1127_1128del c.5243_5244del (p.Ala1748GlyfsTer4) c.5285_5286del (p.Ala1762GlyfsTer4) c.5264_5265del (p.Ala1755GlyfsTer4) c.5258_5259del (p.Ala1753GlyfsTer4) c.5237_5238del (p.Ala1746GlyfsTer4) c.4148_4149del (p.Ala1383GlyfsTer4) c.5246_5247del (p.Ala1749GlyfsTer4) n.1128_1129del
11	g.70473146G>A	CA6160731	SHANK2	c.3506C>T (p.Ala1169Val) c.1051C>T (n.1051C>T) c.5273C>T (p.Ala1758Val) c.2782C>T c.4136C>T (p.Ala1379Val) c.3563C>T (p.Ala1188Val) c.3509C>T (p.Ala1170Val) c.277C>T (n.277C>T) c.3485C>T (p.Ala1162Val) c.1049C>T c.3110C>T (p.Ala1037Val) n.2025C>T n.1127C>T c.5243C>T (p.Ala1748Val) c.5285C>T (p.Ala1762Val) c.5264C>T (p.Ala1755Val) c.5258C>T (p.Ala1753Val) c.5237C>T (p.Ala1746Val) c.4148C>T (p.Ala1383Val) c.5246C>T (p.Ala1749Val) n.1128C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473146G>C	CA381675818	SHANK2	c.3506C>G (p.Ala1169Gly) c.1051C>G (n.1051C>G) c.5273C>G (p.Ala1758Gly) c.2782C>G c.4136C>G (p.Ala1379Gly) c.3563C>G (p.Ala1188Gly) c.3509C>G (p.Ala1170Gly) c.277C>G (n.277C>G) c.3485C>G (p.Ala1162Gly) c.1049C>G c.3110C>G (p.Ala1037Gly) n.2025C>G n.1127C>G c.5243C>G (p.Ala1748Gly) c.5285C>G (p.Ala1762Gly) c.5264C>G (p.Ala1755Gly) c.5258C>G (p.Ala1753Gly) c.5237C>G (p.Ala1746Gly) c.4148C>G (p.Ala1383Gly) c.5246C>G (p.Ala1749Gly) n.1128C>G
11	g.70473146G=	CA1981067927	SHANK2	c.3506C= (p.Ala1169=) c.1051C= (n.1051C=) c.5273C= (p.Ala1758=) c.2782C= c.4136C= (p.Ala1379=) c.3563C= (p.Ala1188=) c.3509C= (p.Ala1170=) c.277C= (n.277C=) c.3485C= (p.Ala1162=) c.1049C= c.3110C= (p.Ala1037=) n.2025C= n.1127C= c.5243C= (p.Ala1748=) c.5285C= (p.Ala1762=) c.5264C= (p.Ala1755=) c.5258C= (p.Ala1753=) c.5237C= (p.Ala1746=) c.4148C= (p.Ala1383=) c.5246C= (p.Ala1749=) n.1128C=
11	g.70473146G>T	CA381675820	SHANK2	c.3506C>A (p.Ala1169Glu) c.1051C>A (n.1051C>A) c.5273C>A (p.Ala1758Glu) c.2782C>A c.4136C>A (p.Ala1379Glu) c.3563C>A (p.Ala1188Glu) c.3509C>A (p.Ala1170Glu) c.277C>A (n.277C>A) c.3485C>A (p.Ala1162Glu) c.1049C>A c.3110C>A (p.Ala1037Glu) n.2025C>A n.1127C>A c.5243C>A (p.Ala1748Glu) c.5285C>A (p.Ala1762Glu) c.5264C>A (p.Ala1755Glu) c.5258C>A (p.Ala1753Glu) c.5237C>A (p.Ala1746Glu) c.4148C>A (p.Ala1383Glu) c.5246C>A (p.Ala1749Glu) n.1128C>A	dbSNP
11	g.70473147C>A	CA381675823	SHANK2	c.3505G>T (p.Ala1169Ser) c.1050G>T (n.1050G>T) c.5272G>T (p.Ala1758Ser) c.2781G>T c.4135G>T (p.Ala1379Ser) c.3562G>T (p.Ala1188Ser) c.3508G>T (p.Ala1170Ser) c.276G>T (n.276G>T) c.3484G>T (p.Ala1162Ser) c.1048G>T c.3109G>T (p.Ala1037Ser) n.2024G>T n.1126G>T c.5242G>T (p.Ala1748Ser) c.5284G>T (p.Ala1762Ser) c.5263G>T (p.Ala1755Ser) c.5257G>T (p.Ala1753Ser) c.5236G>T (p.Ala1746Ser) c.4147G>T (p.Ala1383Ser) c.5245G>T (p.Ala1749Ser) n.1127G>T
11	g.70473147C>G	CA381675825	SHANK2	c.3505G>C (p.Ala1169Pro) c.1050G>C (n.1050G>C) c.5272G>C (p.Ala1758Pro) c.2781G>C c.4135G>C (p.Ala1379Pro) c.3562G>C (p.Ala1188Pro) c.3508G>C (p.Ala1170Pro) c.276G>C (n.276G>C) c.3484G>C (p.Ala1162Pro) c.1048G>C c.3109G>C (p.Ala1037Pro) n.2024G>C n.1126G>C c.5242G>C (p.Ala1748Pro) c.5284G>C (p.Ala1762Pro) c.5263G>C (p.Ala1755Pro) c.5257G>C (p.Ala1753Pro) c.5236G>C (p.Ala1746Pro) c.4147G>C (p.Ala1383Pro) c.5245G>C (p.Ala1749Pro) n.1127G>C	gnomAD v4
11	g.70473147C>T	CA381675827	SHANK2	c.3505G>A (p.Ala1169Thr) c.1050G>A (n.1050G>A) c.5272G>A (p.Ala1758Thr) c.2781G>A c.4135G>A (p.Ala1379Thr) c.3562G>A (p.Ala1188Thr) c.3508G>A (p.Ala1170Thr) c.276G>A (n.276G>A) c.3484G>A (p.Ala1162Thr) c.1048G>A c.3109G>A (p.Ala1037Thr) n.2024G>A n.1126G>A c.5242G>A (p.Ala1748Thr) c.5284G>A (p.Ala1762Thr) c.5263G>A (p.Ala1755Thr) c.5257G>A (p.Ala1753Thr) c.5236G>A (p.Ala1746Thr) c.4147G>A (p.Ala1383Thr) c.5245G>A (p.Ala1749Thr) n.1127G>A
11	g.70473148T>A	CA475471154	SHANK2	c.3504A>T (p.Pro1168=) c.1049A>T (n.1049A>T) c.5271A>T (p.Pro1757=) c.2780A>T c.4134A>T (p.Pro1378=) c.3561A>T (p.Pro1187=) c.3507A>T (p.Pro1169=) c.275A>T (n.275A>T) c.3483A>T (p.Pro1161=) c.1047A>T c.3108A>T (p.Pro1036=) n.2023A>T n.1125A>T c.5241A>T (p.Pro1747=) c.5283A>T (p.Pro1761=) c.5262A>T (p.Pro1754=) c.5256A>T (p.Pro1752=) c.5235A>T (p.Pro1745=) c.4146A>T (p.Pro1382=) c.5244A>T (p.Pro1748=) n.1126A>T
11	g.70473148T>C	CA475471158	SHANK2	c.3504A>G (p.Pro1168=) c.1049A>G (n.1049A>G) c.5271A>G (p.Pro1757=) c.2780A>G c.4134A>G (p.Pro1378=) c.3561A>G (p.Pro1187=) c.3507A>G (p.Pro1169=) c.275A>G (n.275A>G) c.3483A>G (p.Pro1161=) c.1047A>G c.3108A>G (p.Pro1036=) n.2023A>G n.1125A>G c.5241A>G (p.Pro1747=) c.5283A>G (p.Pro1761=) c.5262A>G (p.Pro1754=) c.5256A>G (p.Pro1752=) c.5235A>G (p.Pro1745=) c.4146A>G (p.Pro1382=) c.5244A>G (p.Pro1748=) n.1126A>G
11	g.70473148T>G	CA475471157	SHANK2	c.3504A>C (p.Pro1168=) c.1049A>C (n.1049A>C) c.5271A>C (p.Pro1757=) c.2780A>C c.4134A>C (p.Pro1378=) c.3561A>C (p.Pro1187=) c.3507A>C (p.Pro1169=) c.275A>C (n.275A>C) c.3483A>C (p.Pro1161=) c.1047A>C c.3108A>C (p.Pro1036=) n.2023A>C n.1125A>C c.5241A>C (p.Pro1747=) c.5283A>C (p.Pro1761=) c.5262A>C (p.Pro1754=) c.5256A>C (p.Pro1752=) c.5235A>C (p.Pro1745=) c.4146A>C (p.Pro1382=) c.5244A>C (p.Pro1748=) n.1126A>C
11	g.70473149G>A	CA381675829	SHANK2	c.3503C>T (p.Pro1168Leu) c.1048C>T (n.1048C>T) c.5270C>T (p.Pro1757Leu) c.2779C>T c.4133C>T (p.Pro1378Leu) c.3560C>T (p.Pro1187Leu) c.3506C>T (p.Pro1169Leu) c.274C>T (n.274C>T) c.3482C>T (p.Pro1161Leu) c.1046C>T c.3107C>T (p.Pro1036Leu) n.2022C>T n.1124C>T c.5240C>T (p.Pro1747Leu) c.5282C>T (p.Pro1761Leu) c.5261C>T (p.Pro1754Leu) c.5255C>T (p.Pro1752Leu) c.5234C>T (p.Pro1745Leu) c.4145C>T (p.Pro1382Leu) c.5243C>T (p.Pro1748Leu) n.1125C>T
11	g.70473149G>C	CA381675831	SHANK2	c.3503C>G (p.Pro1168Arg) c.1048C>G (n.1048C>G) c.5270C>G (p.Pro1757Arg) c.2779C>G c.4133C>G (p.Pro1378Arg) c.3560C>G (p.Pro1187Arg) c.3506C>G (p.Pro1169Arg) c.274C>G (n.274C>G) c.3482C>G (p.Pro1161Arg) c.1046C>G c.3107C>G (p.Pro1036Arg) n.2022C>G n.1124C>G c.5240C>G (p.Pro1747Arg) c.5282C>G (p.Pro1761Arg) c.5261C>G (p.Pro1754Arg) c.5255C>G (p.Pro1752Arg) c.5234C>G (p.Pro1745Arg) c.4145C>G (p.Pro1382Arg) c.5243C>G (p.Pro1748Arg) n.1125C>G	gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473149G>T	CA381675833	SHANK2	c.3503C>A (p.Pro1168Gln) c.1048C>A (n.1048C>A) c.5270C>A (p.Pro1757Gln) c.2779C>A c.4133C>A (p.Pro1378Gln) c.3560C>A (p.Pro1187Gln) c.3506C>A (p.Pro1169Gln) c.274C>A (n.274C>A) c.3482C>A (p.Pro1161Gln) c.1046C>A c.3107C>A (p.Pro1036Gln) n.2022C>A n.1124C>A c.5240C>A (p.Pro1747Gln) c.5282C>A (p.Pro1761Gln) c.5261C>A (p.Pro1754Gln) c.5255C>A (p.Pro1752Gln) c.5234C>A (p.Pro1745Gln) c.4145C>A (p.Pro1382Gln) c.5243C>A (p.Pro1748Gln) n.1125C>A
11	g.70473150G>A	CA6160732	SHANK2	c.3502C>T (p.Pro1168Ser) c.1047C>T (n.1047C>T) c.5269C>T (p.Pro1757Ser) c.2778C>T c.4132C>T (p.Pro1378Ser) c.3559C>T (p.Pro1187Ser) c.3505C>T (p.Pro1169Ser) c.273C>T (n.273C>T) c.3481C>T (p.Pro1161Ser) c.1045C>T c.3106C>T (p.Pro1036Ser) n.2021C>T n.1123C>T c.5239C>T (p.Pro1747Ser) c.5281C>T (p.Pro1761Ser) c.5260C>T (p.Pro1754Ser) c.5254C>T (p.Pro1752Ser) c.5233C>T (p.Pro1745Ser) c.4144C>T (p.Pro1382Ser) c.5242C>T (p.Pro1748Ser) n.1124C>T	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473150G>C	CA381675834	SHANK2	c.3502C>G (p.Pro1168Ala) c.1047C>G (n.1047C>G) c.5269C>G (p.Pro1757Ala) c.2778C>G c.4132C>G (p.Pro1378Ala) c.3559C>G (p.Pro1187Ala) c.3505C>G (p.Pro1169Ala) c.273C>G (n.273C>G) c.3481C>G (p.Pro1161Ala) c.1045C>G c.3106C>G (p.Pro1036Ala) n.2021C>G n.1123C>G c.5239C>G (p.Pro1747Ala) c.5281C>G (p.Pro1761Ala) c.5260C>G (p.Pro1754Ala) c.5254C>G (p.Pro1752Ala) c.5233C>G (p.Pro1745Ala) c.4144C>G (p.Pro1382Ala) c.5242C>G (p.Pro1748Ala) n.1124C>G	gnomAD v4
11	g.70473150G=	CA1981067928	SHANK2	c.3502C= (p.Pro1168=) c.1047C= (n.1047C=) c.5269C= (p.Pro1757=) c.2778C= c.4132C= (p.Pro1378=) c.3559C= (p.Pro1187=) c.3505C= (p.Pro1169=) c.273C= (n.273C=) c.3481C= (p.Pro1161=) c.1045C= c.3106C= (p.Pro1036=) n.2021C= n.1123C= c.5239C= (p.Pro1747=) c.5281C= (p.Pro1761=) c.5260C= (p.Pro1754=) c.5254C= (p.Pro1752=) c.5233C= (p.Pro1745=) c.4144C= (p.Pro1382=) c.5242C= (p.Pro1748=) n.1124C=
11	g.70473150G>T	CA381675837	SHANK2	c.3502C>A (p.Pro1168Thr) c.1047C>A (n.1047C>A) c.5269C>A (p.Pro1757Thr) c.2778C>A c.4132C>A (p.Pro1378Thr) c.3559C>A (p.Pro1187Thr) c.3505C>A (p.Pro1169Thr) c.273C>A (n.273C>A) c.3481C>A (p.Pro1161Thr) c.1045C>A c.3106C>A (p.Pro1036Thr) n.2021C>A n.1123C>A c.5239C>A (p.Pro1747Thr) c.5281C>A (p.Pro1761Thr) c.5260C>A (p.Pro1754Thr) c.5254C>A (p.Pro1752Thr) c.5233C>A (p.Pro1745Thr) c.4144C>A (p.Pro1382Thr) c.5242C>A (p.Pro1748Thr) n.1124C>A
11	g.70473151G>A	CA475471159	SHANK2	c.3501C>T (p.Asn1167=) c.1046C>T (n.1046C>T) c.5268C>T (p.Asn1756=) c.2777C>T c.4131C>T (p.Asn1377=) c.3558C>T (p.Asn1186=) c.3504C>T (p.Asn1168=) c.272C>T (n.272C>T) c.3480C>T (p.Asn1160=) c.1044C>T c.3105C>T (p.Asn1035=) n.2020C>T n.1122C>T c.5238C>T (p.Asn1746=) c.5280C>T (p.Asn1760=) c.5259C>T (p.Asn1753=) c.5253C>T (p.Asn1751=) c.5232C>T (p.Asn1744=) c.4143C>T (p.Asn1381=) c.5241C>T (p.Asn1747=) n.1123C>T
11	g.70473151G>C	CA381675842	SHANK2	c.3501C>G (p.Asn1167Lys) c.1046C>G (n.1046C>G) c.5268C>G (p.Asn1756Lys) c.2777C>G c.4131C>G (p.Asn1377Lys) c.3558C>G (p.Asn1186Lys) c.3504C>G (p.Asn1168Lys) c.272C>G (n.272C>G) c.3480C>G (p.Asn1160Lys) c.1044C>G c.3105C>G (p.Asn1035Lys) n.2020C>G n.1122C>G c.5238C>G (p.Asn1746Lys) c.5280C>G (p.Asn1760Lys) c.5259C>G (p.Asn1753Lys) c.5253C>G (p.Asn1751Lys) c.5232C>G (p.Asn1744Lys) c.4143C>G (p.Asn1381Lys) c.5241C>G (p.Asn1747Lys) n.1123C>G
11	g.70473151G>T	CA381675845	SHANK2	c.3501C>A (p.Asn1167Lys) c.1046C>A (n.1046C>A) c.5268C>A (p.Asn1756Lys) c.2777C>A c.4131C>A (p.Asn1377Lys) c.3558C>A (p.Asn1186Lys) c.3504C>A (p.Asn1168Lys) c.272C>A (n.272C>A) c.3480C>A (p.Asn1160Lys) c.1044C>A c.3105C>A (p.Asn1035Lys) n.2020C>A n.1122C>A c.5238C>A (p.Asn1746Lys) c.5280C>A (p.Asn1760Lys) c.5259C>A (p.Asn1753Lys) c.5253C>A (p.Asn1751Lys) c.5232C>A (p.Asn1744Lys) c.4143C>A (p.Asn1381Lys) c.5241C>A (p.Asn1747Lys) n.1123C>A
11	g.70473152T>A	CA381675847	SHANK2	c.3500A>T (p.Asn1167Ile) c.1045A>T (n.1045A>T) c.5267A>T (p.Asn1756Ile) c.2776A>T c.4130A>T (p.Asn1377Ile) c.3557A>T (p.Asn1186Ile) c.3503A>T (p.Asn1168Ile) c.271A>T (n.271A>T) c.3479A>T (p.Asn1160Ile) c.1043A>T c.3104A>T (p.Asn1035Ile) n.2019A>T n.1121A>T c.5237A>T (p.Asn1746Ile) c.5279A>T (p.Asn1760Ile) c.5258A>T (p.Asn1753Ile) c.5252A>T (p.Asn1751Ile) c.5231A>T (p.Asn1744Ile) c.4142A>T (p.Asn1381Ile) c.5240A>T (p.Asn1747Ile) n.1122A>T
11	g.70473152T>C	CA381675848	SHANK2	c.3500A>G (p.Asn1167Ser) c.1045A>G (n.1045A>G) c.5267A>G (p.Asn1756Ser) c.2776A>G c.4130A>G (p.Asn1377Ser) c.3557A>G (p.Asn1186Ser) c.3503A>G (p.Asn1168Ser) c.271A>G (n.271A>G) c.3479A>G (p.Asn1160Ser) c.1043A>G c.3104A>G (p.Asn1035Ser) n.2019A>G n.1121A>G c.5237A>G (p.Asn1746Ser) c.5279A>G (p.Asn1760Ser) c.5258A>G (p.Asn1753Ser) c.5252A>G (p.Asn1751Ser) c.5231A>G (p.Asn1744Ser) c.4142A>G (p.Asn1381Ser) c.5240A>G (p.Asn1747Ser) n.1122A>G
11	g.70473152T>G	CA381675849	SHANK2	c.3500A>C (p.Asn1167Thr) c.1045A>C (n.1045A>C) c.5267A>C (p.Asn1756Thr) c.2776A>C c.4130A>C (p.Asn1377Thr) c.3557A>C (p.Asn1186Thr) c.3503A>C (p.Asn1168Thr) c.271A>C (n.271A>C) c.3479A>C (p.Asn1160Thr) c.1043A>C c.3104A>C (p.Asn1035Thr) n.2019A>C n.1121A>C c.5237A>C (p.Asn1746Thr) c.5279A>C (p.Asn1760Thr) c.5258A>C (p.Asn1753Thr) c.5252A>C (p.Asn1751Thr) c.5231A>C (p.Asn1744Thr) c.4142A>C (p.Asn1381Thr) c.5240A>C (p.Asn1747Thr) n.1122A>C
11	g.70473153T>A	CA381675850	SHANK2	c.3499A>T (p.Asn1167Tyr) c.1044A>T (n.1044A>T) c.5266A>T (p.Asn1756Tyr) c.2775A>T c.4129A>T (p.Asn1377Tyr) c.3556A>T (p.Asn1186Tyr) c.3502A>T (p.Asn1168Tyr) c.270A>T (n.270A>T) c.3478A>T (p.Asn1160Tyr) c.1042A>T c.3103A>T (p.Asn1035Tyr) n.2018A>T n.1120A>T c.5236A>T (p.Asn1746Tyr) c.5278A>T (p.Asn1760Tyr) c.5257A>T (p.Asn1753Tyr) c.5251A>T (p.Asn1751Tyr) c.5230A>T (p.Asn1744Tyr) c.4141A>T (p.Asn1381Tyr) c.5239A>T (p.Asn1747Tyr) n.1121A>T
11	g.70473153T>C	CA381675853	SHANK2	c.3499A>G (p.Asn1167Asp) c.1044A>G (n.1044A>G) c.5266A>G (p.Asn1756Asp) c.2775A>G c.4129A>G (p.Asn1377Asp) c.3556A>G (p.Asn1186Asp) c.3502A>G (p.Asn1168Asp) c.270A>G (n.270A>G) c.3478A>G (p.Asn1160Asp) c.1042A>G c.3103A>G (p.Asn1035Asp) n.2018A>G n.1120A>G c.5236A>G (p.Asn1746Asp) c.5278A>G (p.Asn1760Asp) c.5257A>G (p.Asn1753Asp) c.5251A>G (p.Asn1751Asp) c.5230A>G (p.Asn1744Asp) c.4141A>G (p.Asn1381Asp) c.5239A>G (p.Asn1747Asp) n.1121A>G	COSMIC COSMIC COSMIC
11	g.70473153T>G	CA381675852	SHANK2	c.3499A>C (p.Asn1167His) c.1044A>C (n.1044A>C) c.5266A>C (p.Asn1756His) c.2775A>C c.4129A>C (p.Asn1377His) c.3556A>C (p.Asn1186His) c.3502A>C (p.Asn1168His) c.270A>C (n.270A>C) c.3478A>C (p.Asn1160His) c.1042A>C c.3103A>C (p.Asn1035His) n.2018A>C n.1120A>C c.5236A>C (p.Asn1746His) c.5278A>C (p.Asn1760His) c.5257A>C (p.Asn1753His) c.5251A>C (p.Asn1751His) c.5230A>C (p.Asn1744His) c.4141A>C (p.Asn1381His) c.5239A>C (p.Asn1747His) n.1121A>C
11	g.70473154C>A	CA381675854	SHANK2	c.3498G>T (p.Leu1166Phe) c.1043G>T (n.1043G>T) c.5265G>T (p.Leu1755Phe) c.2774G>T c.4128G>T (p.Leu1376Phe) c.3555G>T (p.Leu1185Phe) c.3501G>T (p.Leu1167Phe) c.269G>T (n.269G>T) c.3477G>T (p.Leu1159Phe) c.1041G>T c.3102G>T (p.Leu1034Phe) n.2017G>T n.1119G>T c.5235G>T (p.Leu1745Phe) c.5277G>T (p.Leu1759Phe) c.5256G>T (p.Leu1752Phe) c.5250G>T (p.Leu1750Phe) c.5229G>T (p.Leu1743Phe) c.4140G>T (p.Leu1380Phe) c.5238G>T (p.Leu1746Phe) n.1120G>T
11	g.70473154C>G	CA381675855	SHANK2	c.3498G>C (p.Leu1166Phe) c.1043G>C (n.1043G>C) c.5265G>C (p.Leu1755Phe) c.2774G>C c.4128G>C (p.Leu1376Phe) c.3555G>C (p.Leu1185Phe) c.3501G>C (p.Leu1167Phe) c.269G>C (n.269G>C) c.3477G>C (p.Leu1159Phe) c.1041G>C c.3102G>C (p.Leu1034Phe) n.2017G>C n.1119G>C c.5235G>C (p.Leu1745Phe) c.5277G>C (p.Leu1759Phe) c.5256G>C (p.Leu1752Phe) c.5250G>C (p.Leu1750Phe) c.5229G>C (p.Leu1743Phe) c.4140G>C (p.Leu1380Phe) c.5238G>C (p.Leu1746Phe) n.1120G>C
11	g.70473154C>T	CA475471163	SHANK2	c.3498G>A (p.Leu1166=) c.1043G>A (n.1043G>A) c.5265G>A (p.Leu1755=) c.2774G>A c.4128G>A (p.Leu1376=) c.3555G>A (p.Leu1185=) c.3501G>A (p.Leu1167=) c.269G>A (n.269G>A) c.3477G>A (p.Leu1159=) c.1041G>A c.3102G>A (p.Leu1034=) n.2017G>A n.1119G>A c.5235G>A (p.Leu1745=) c.5277G>A (p.Leu1759=) c.5256G>A (p.Leu1752=) c.5250G>A (p.Leu1750=) c.5229G>A (p.Leu1743=) c.4140G>A (p.Leu1380=) c.5238G>A (p.Leu1746=) n.1120G>A
11	g.70473155A=	CA1981067929	SHANK2	c.3497T= (p.Leu1166=) c.1042T= (n.1042T=) c.5264T= (p.Leu1755=) c.2773T= c.4127T= (p.Leu1376=) c.3554T= (p.Leu1185=) c.3500T= (p.Leu1167=) c.268T= (n.268T=) c.3476T= (p.Leu1159=) c.1040T= c.3101T= (p.Leu1034=) n.2016T= n.1118T= c.5234T= (p.Leu1745=) c.5276T= (p.Leu1759=) c.5255T= (p.Leu1752=) c.5249T= (p.Leu1750=) c.5228T= (p.Leu1743=) c.4139T= (p.Leu1380=) c.5237T= (p.Leu1746=) n.1119T=
11	g.70473155A>C	CA381675856	SHANK2	c.3497T>G (p.Leu1166Trp) c.1042T>G (n.1042T>G) c.5264T>G (p.Leu1755Trp) c.2773T>G c.4127T>G (p.Leu1376Trp) c.3554T>G (p.Leu1185Trp) c.3500T>G (p.Leu1167Trp) c.268T>G (n.268T>G) c.3476T>G (p.Leu1159Trp) c.1040T>G c.3101T>G (p.Leu1034Trp) n.2016T>G n.1118T>G c.5234T>G (p.Leu1745Trp) c.5276T>G (p.Leu1759Trp) c.5255T>G (p.Leu1752Trp) c.5249T>G (p.Leu1750Trp) c.5228T>G (p.Leu1743Trp) c.4139T>G (p.Leu1380Trp) c.5237T>G (p.Leu1746Trp) n.1119T>G
11	g.70473155A>G	CA381675858	SHANK2	c.3497T>C (p.Leu1166Ser) c.1042T>C (n.1042T>C) c.5264T>C (p.Leu1755Ser) c.2773T>C c.4127T>C (p.Leu1376Ser) c.3554T>C (p.Leu1185Ser) c.3500T>C (p.Leu1167Ser) c.268T>C (n.268T>C) c.3476T>C (p.Leu1159Ser) c.1040T>C c.3101T>C (p.Leu1034Ser) n.2016T>C n.1118T>C c.5234T>C (p.Leu1745Ser) c.5276T>C (p.Leu1759Ser) c.5255T>C (p.Leu1752Ser) c.5249T>C (p.Leu1750Ser) c.5228T>C (p.Leu1743Ser) c.4139T>C (p.Leu1380Ser) c.5237T>C (p.Leu1746Ser) n.1119T>C	dbSNP gnomAD v4
11	g.70473155A>T	CA381675860	SHANK2	c.3497T>A (p.Leu1166Ter) c.1042T>A (n.1042T>A) c.5264T>A (p.Leu1755Ter) c.2773T>A c.4127T>A (p.Leu1376Ter) c.3554T>A (p.Leu1185Ter) c.3500T>A (p.Leu1167Ter) c.268T>A (n.268T>A) c.3476T>A (p.Leu1159Ter) c.1040T>A c.3101T>A (p.Leu1034Ter) n.2016T>A n.1118T>A c.5234T>A (p.Leu1745Ter) c.5276T>A (p.Leu1759Ter) c.5255T>A (p.Leu1752Ter) c.5249T>A (p.Leu1750Ter) c.5228T>A (p.Leu1743Ter) c.4139T>A (p.Leu1380Ter) c.5237T>A (p.Leu1746Ter) n.1119T>A
11	g.70473156A=	CA1981067930	SHANK2	c.3496T= (p.Leu1166=) c.1041T= (n.1041T=) c.5263T= (p.Leu1755=) c.2772T= c.4126T= (p.Leu1376=) c.3553T= (p.Leu1185=) c.3499T= (p.Leu1167=) c.267T= (n.267T=) c.3475T= (p.Leu1159=) c.1039T= c.3100T= (p.Leu1034=) n.2015T= n.1117T= c.5233T= (p.Leu1745=) c.5275T= (p.Leu1759=) c.5254T= (p.Leu1752=) c.5248T= (p.Leu1750=) c.5227T= (p.Leu1743=) c.4138T= (p.Leu1380=) c.5236T= (p.Leu1746=) n.1118T=
11	g.70473156A>C	CA381675864	SHANK2	c.3496T>G (p.Leu1166Val) c.1041T>G (n.1041T>G) c.5263T>G (p.Leu1755Val) c.2772T>G c.4126T>G (p.Leu1376Val) c.3553T>G (p.Leu1185Val) c.3499T>G (p.Leu1167Val) c.267T>G (n.267T>G) c.3475T>G (p.Leu1159Val) c.1039T>G c.3100T>G (p.Leu1034Val) n.2015T>G n.1117T>G c.5233T>G (p.Leu1745Val) c.5275T>G (p.Leu1759Val) c.5254T>G (p.Leu1752Val) c.5248T>G (p.Leu1750Val) c.5227T>G (p.Leu1743Val) c.4138T>G (p.Leu1380Val) c.5236T>G (p.Leu1746Val) n.1118T>G
11	g.70473156A>G	CA475471164	SHANK2	c.3496T>C (p.Leu1166=) c.1041T>C (n.1041T>C) c.5263T>C (p.Leu1755=) c.2772T>C c.4126T>C (p.Leu1376=) c.3553T>C (p.Leu1185=) c.3499T>C (p.Leu1167=) c.267T>C (n.267T>C) c.3475T>C (p.Leu1159=) c.1039T>C c.3100T>C (p.Leu1034=) n.2015T>C n.1117T>C c.5233T>C (p.Leu1745=) c.5275T>C (p.Leu1759=) c.5254T>C (p.Leu1752=) c.5248T>C (p.Leu1750=) c.5227T>C (p.Leu1743=) c.4138T>C (p.Leu1380=) c.5236T>C (p.Leu1746=) n.1118T>C	dbSNP gnomAD v2
11	g.70473156A>T	CA381675866	SHANK2	c.3496T>A (p.Leu1166Met) c.1041T>A (n.1041T>A) c.5263T>A (p.Leu1755Met) c.2772T>A c.4126T>A (p.Leu1376Met) c.3553T>A (p.Leu1185Met) c.3499T>A (p.Leu1167Met) c.267T>A (n.267T>A) c.3475T>A (p.Leu1159Met) c.1039T>A c.3100T>A (p.Leu1034Met) n.2015T>A n.1117T>A c.5233T>A (p.Leu1745Met) c.5275T>A (p.Leu1759Met) c.5254T>A (p.Leu1752Met) c.5248T>A (p.Leu1750Met) c.5227T>A (p.Leu1743Met) c.4138T>A (p.Leu1380Met) c.5236T>A (p.Leu1746Met) n.1118T>A
11	g.70473157G>A	CA475471168	SHANK2	c.3495C>T (p.Gly1165=) c.1040C>T (n.1040C>T) c.5262C>T (p.Gly1754=) c.2771C>T c.4125C>T (p.Gly1375=) c.3552C>T (p.Gly1184=) c.3498C>T (p.Gly1166=) c.266C>T (n.266C>T) c.3474C>T (p.Gly1158=) c.1038C>T c.3099C>T (p.Gly1033=) n.2014C>T n.1116C>T c.5232C>T (p.Gly1744=) c.5274C>T (p.Gly1758=) c.5253C>T (p.Gly1751=) c.5247C>T (p.Gly1749=) c.5226C>T (p.Gly1742=) c.4137C>T (p.Gly1379=) c.5235C>T (p.Gly1745=) n.1117C>T
11	g.70473157G>C	CA475471165	SHANK2	c.3495C>G (p.Gly1165=) c.1040C>G (n.1040C>G) c.5262C>G (p.Gly1754=) c.2771C>G c.4125C>G (p.Gly1375=) c.3552C>G (p.Gly1184=) c.3498C>G (p.Gly1166=) c.266C>G (n.266C>G) c.3474C>G (p.Gly1158=) c.1038C>G c.3099C>G (p.Gly1033=) n.2014C>G n.1116C>G c.5232C>G (p.Gly1744=) c.5274C>G (p.Gly1758=) c.5253C>G (p.Gly1751=) c.5247C>G (p.Gly1749=) c.5226C>G (p.Gly1742=) c.4137C>G (p.Gly1379=) c.5235C>G (p.Gly1745=) n.1117C>G
11	g.70473157G>T	CA475471167	SHANK2	c.3495C>A (p.Gly1165=) c.1040C>A (n.1040C>A) c.5262C>A (p.Gly1754=) c.2771C>A c.4125C>A (p.Gly1375=) c.3552C>A (p.Gly1184=) c.3498C>A (p.Gly1166=) c.266C>A (n.266C>A) c.3474C>A (p.Gly1158=) c.1038C>A c.3099C>A (p.Gly1033=) n.2014C>A n.1116C>A c.5232C>A (p.Gly1744=) c.5274C>A (p.Gly1758=) c.5253C>A (p.Gly1751=) c.5247C>A (p.Gly1749=) c.5226C>A (p.Gly1742=) c.4137C>A (p.Gly1379=) c.5235C>A (p.Gly1745=) n.1117C>A
11	g.70473158C>A	CA381675872	SHANK2	c.3494G>T (p.Gly1165Val) c.1039G>T (n.1039G>T) c.5261G>T (p.Gly1754Val) c.2770G>T c.4124G>T (p.Gly1375Val) c.3551G>T (p.Gly1184Val) c.3497G>T (p.Gly1166Val) c.265G>T (n.265G>T) c.3473G>T (p.Gly1158Val) c.1037G>T c.3098G>T (p.Gly1033Val) n.2013G>T n.1115G>T c.5231G>T (p.Gly1744Val) c.5273G>T (p.Gly1758Val) c.5252G>T (p.Gly1751Val) c.5246G>T (p.Gly1749Val) c.5225G>T (p.Gly1742Val) c.4136G>T (p.Gly1379Val) c.5234G>T (p.Gly1745Val) n.1116G>T	gnomAD v4
11	g.70473158C>G	CA381675874	SHANK2	c.3494G>C (p.Gly1165Ala) c.1039G>C (n.1039G>C) c.5261G>C (p.Gly1754Ala) c.2770G>C c.4124G>C (p.Gly1375Ala) c.3551G>C (p.Gly1184Ala) c.3497G>C (p.Gly1166Ala) c.265G>C (n.265G>C) c.3473G>C (p.Gly1158Ala) c.1037G>C c.3098G>C (p.Gly1033Ala) n.2013G>C n.1115G>C c.5231G>C (p.Gly1744Ala) c.5273G>C (p.Gly1758Ala) c.5252G>C (p.Gly1751Ala) c.5246G>C (p.Gly1749Ala) c.5225G>C (p.Gly1742Ala) c.4136G>C (p.Gly1379Ala) c.5234G>C (p.Gly1745Ala) n.1116G>C
11	g.70473158C>T	CA381675876	SHANK2	c.3494G>A (p.Gly1165Asp) c.1039G>A (n.1039G>A) c.5261G>A (p.Gly1754Asp) c.2770G>A c.4124G>A (p.Gly1375Asp) c.3551G>A (p.Gly1184Asp) c.3497G>A (p.Gly1166Asp) c.265G>A (n.265G>A) c.3473G>A (p.Gly1158Asp) c.1037G>A c.3098G>A (p.Gly1033Asp) n.2013G>A n.1115G>A c.5231G>A (p.Gly1744Asp) c.5273G>A (p.Gly1758Asp) c.5252G>A (p.Gly1751Asp) c.5246G>A (p.Gly1749Asp) c.5225G>A (p.Gly1742Asp) c.4136G>A (p.Gly1379Asp) c.5234G>A (p.Gly1745Asp) n.1116G>A
11	g.70473159C>A	CA381675877	SHANK2	c.3493G>T (p.Gly1165Cys) c.1038G>T (n.1038G>T) c.5260G>T (p.Gly1754Cys) c.2769G>T c.4123G>T (p.Gly1375Cys) c.3550G>T (p.Gly1184Cys) c.3496G>T (p.Gly1166Cys) c.264G>T (n.264G>T) c.3472G>T (p.Gly1158Cys) c.1036G>T c.3097G>T (p.Gly1033Cys) n.2012G>T n.1114G>T c.5230G>T (p.Gly1744Cys) c.5272G>T (p.Gly1758Cys) c.5251G>T (p.Gly1751Cys) c.5245G>T (p.Gly1749Cys) c.5224G>T (p.Gly1742Cys) c.4135G>T (p.Gly1379Cys) c.5233G>T (p.Gly1745Cys) n.1115G>T
11	g.70473159C>G	CA381675879	SHANK2	c.3493G>C (p.Gly1165Arg) c.1038G>C (n.1038G>C) c.5260G>C (p.Gly1754Arg) c.2769G>C c.4123G>C (p.Gly1375Arg) c.3550G>C (p.Gly1184Arg) c.3496G>C (p.Gly1166Arg) c.264G>C (n.264G>C) c.3472G>C (p.Gly1158Arg) c.1036G>C c.3097G>C (p.Gly1033Arg) n.2012G>C n.1114G>C c.5230G>C (p.Gly1744Arg) c.5272G>C (p.Gly1758Arg) c.5251G>C (p.Gly1751Arg) c.5245G>C (p.Gly1749Arg) c.5224G>C (p.Gly1742Arg) c.4135G>C (p.Gly1379Arg) c.5233G>C (p.Gly1745Arg) n.1115G>C	gnomAD v4
11	g.70473159C>T	CA381675880	SHANK2	c.3493G>A (p.Gly1165Ser) c.1038G>A (n.1038G>A) c.5260G>A (p.Gly1754Ser) c.2769G>A c.4123G>A (p.Gly1375Ser) c.3550G>A (p.Gly1184Ser) c.3496G>A (p.Gly1166Ser) c.264G>A (n.264G>A) c.3472G>A (p.Gly1158Ser) c.1036G>A c.3097G>A (p.Gly1033Ser) n.2012G>A n.1114G>A c.5230G>A (p.Gly1744Ser) c.5272G>A (p.Gly1758Ser) c.5251G>A (p.Gly1751Ser) c.5245G>A (p.Gly1749Ser) c.5224G>A (p.Gly1742Ser) c.4135G>A (p.Gly1379Ser) c.5233G>A (p.Gly1745Ser) n.1115G>A
11	g.70473160A>C	CA381675893	SHANK2	c.3492T>G (p.Phe1164Leu) c.1037T>G (n.1037T>G) c.5259T>G (p.Phe1753Leu) c.2768T>G c.4122T>G (p.Phe1374Leu) c.3549T>G (p.Phe1183Leu) c.3495T>G (p.Phe1165Leu) c.263T>G (n.263T>G) c.3471T>G (p.Phe1157Leu) c.1035T>G c.3096T>G (p.Phe1032Leu) n.2011T>G n.1113T>G c.5229T>G (p.Phe1743Leu) c.5271T>G (p.Phe1757Leu) c.5250T>G (p.Phe1750Leu) c.5244T>G (p.Phe1748Leu) c.5223T>G (p.Phe1741Leu) c.4134T>G (p.Phe1378Leu) c.5232T>G (p.Phe1744Leu) n.1114T>G
11	g.70473160A>G	CA475471169	SHANK2	c.3492T>C (p.Phe1164=) c.1037T>C (n.1037T>C) c.5259T>C (p.Phe1753=) c.2768T>C c.4122T>C (p.Phe1374=) c.3549T>C (p.Phe1183=) c.3495T>C (p.Phe1165=) c.263T>C (n.263T>C) c.3471T>C (p.Phe1157=) c.1035T>C c.3096T>C (p.Phe1032=) n.2011T>C n.1113T>C c.5229T>C (p.Phe1743=) c.5271T>C (p.Phe1757=) c.5250T>C (p.Phe1750=) c.5244T>C (p.Phe1748=) c.5223T>C (p.Phe1741=) c.4134T>C (p.Phe1378=) c.5232T>C (p.Phe1744=) n.1114T>C
11	g.70473160A>T	CA381675891	SHANK2	c.3492T>A (p.Phe1164Leu) c.1037T>A (n.1037T>A) c.5259T>A (p.Phe1753Leu) c.2768T>A c.4122T>A (p.Phe1374Leu) c.3549T>A (p.Phe1183Leu) c.3495T>A (p.Phe1165Leu) c.263T>A (n.263T>A) c.3471T>A (p.Phe1157Leu) c.1035T>A c.3096T>A (p.Phe1032Leu) n.2011T>A n.1113T>A c.5229T>A (p.Phe1743Leu) c.5271T>A (p.Phe1757Leu) c.5250T>A (p.Phe1750Leu) c.5244T>A (p.Phe1748Leu) c.5223T>A (p.Phe1741Leu) c.4134T>A (p.Phe1378Leu) c.5232T>A (p.Phe1744Leu) n.1114T>A
11	g.70473161A=	CA1981067931	SHANK2	c.3491T= (p.Phe1164=) c.1036T= (n.1036T=) c.5258T= (p.Phe1753=) c.2767T= c.4121T= (p.Phe1374=) c.3548T= (p.Phe1183=) c.3494T= (p.Phe1165=) c.262T= (n.262T=) c.3470T= (p.Phe1157=) c.1034T= c.3095T= (p.Phe1032=) n.2010T= n.1112T= c.5228T= (p.Phe1743=) c.5270T= (p.Phe1757=) c.5249T= (p.Phe1750=) c.5243T= (p.Phe1748=) c.5222T= (p.Phe1741=) c.4133T= (p.Phe1378=) c.5231T= (p.Phe1744=) n.1113T=
11	g.70473161A>C	CA381675900	SHANK2	c.3491T>G (p.Phe1164Cys) c.1036T>G (n.1036T>G) c.5258T>G (p.Phe1753Cys) c.2767T>G c.4121T>G (p.Phe1374Cys) c.3548T>G (p.Phe1183Cys) c.3494T>G (p.Phe1165Cys) c.262T>G (n.262T>G) c.3470T>G (p.Phe1157Cys) c.1034T>G c.3095T>G (p.Phe1032Cys) n.2010T>G n.1112T>G c.5228T>G (p.Phe1743Cys) c.5270T>G (p.Phe1757Cys) c.5249T>G (p.Phe1750Cys) c.5243T>G (p.Phe1748Cys) c.5222T>G (p.Phe1741Cys) c.4133T>G (p.Phe1378Cys) c.5231T>G (p.Phe1744Cys) n.1113T>G
11	g.70473161A>G	CA6160733	SHANK2	c.3491T>C (p.Phe1164Ser) c.1036T>C (n.1036T>C) c.5258T>C (p.Phe1753Ser) c.2767T>C c.4121T>C (p.Phe1374Ser) c.3548T>C (p.Phe1183Ser) c.3494T>C (p.Phe1165Ser) c.262T>C (n.262T>C) c.3470T>C (p.Phe1157Ser) c.1034T>C c.3095T>C (p.Phe1032Ser) n.2010T>C n.1112T>C c.5228T>C (p.Phe1743Ser) c.5270T>C (p.Phe1757Ser) c.5249T>C (p.Phe1750Ser) c.5243T>C (p.Phe1748Ser) c.5222T>C (p.Phe1741Ser) c.4133T>C (p.Phe1378Ser) c.5231T>C (p.Phe1744Ser) n.1113T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473161A>T	CA381675902	SHANK2	c.3491T>A (p.Phe1164Tyr) c.1036T>A (n.1036T>A) c.5258T>A (p.Phe1753Tyr) c.2767T>A c.4121T>A (p.Phe1374Tyr) c.3548T>A (p.Phe1183Tyr) c.3494T>A (p.Phe1165Tyr) c.262T>A (n.262T>A) c.3470T>A (p.Phe1157Tyr) c.1034T>A c.3095T>A (p.Phe1032Tyr) n.2010T>A n.1112T>A c.5228T>A (p.Phe1743Tyr) c.5270T>A (p.Phe1757Tyr) c.5249T>A (p.Phe1750Tyr) c.5243T>A (p.Phe1748Tyr) c.5222T>A (p.Phe1741Tyr) c.4133T>A (p.Phe1378Tyr) c.5231T>A (p.Phe1744Tyr) n.1113T>A
11	g.70473162A>C	CA381675903	SHANK2	c.3490T>G (p.Phe1164Val) c.1035T>G (n.1035T>G) c.5257T>G (p.Phe1753Val) c.2766T>G c.4120T>G (p.Phe1374Val) c.3547T>G (p.Phe1183Val) c.3493T>G (p.Phe1165Val) c.261T>G (n.261T>G) c.3469T>G (p.Phe1157Val) c.1033T>G c.3094T>G (p.Phe1032Val) n.2009T>G n.1111T>G c.5227T>G (p.Phe1743Val) c.5269T>G (p.Phe1757Val) c.5248T>G (p.Phe1750Val) c.5242T>G (p.Phe1748Val) c.5221T>G (p.Phe1741Val) c.4132T>G (p.Phe1378Val) c.5230T>G (p.Phe1744Val) n.1112T>G
11	g.70473162A>G	CA381675904	SHANK2	c.3490T>C (p.Phe1164Leu) c.1035T>C (n.1035T>C) c.5257T>C (p.Phe1753Leu) c.2766T>C c.4120T>C (p.Phe1374Leu) c.3547T>C (p.Phe1183Leu) c.3493T>C (p.Phe1165Leu) c.261T>C (n.261T>C) c.3469T>C (p.Phe1157Leu) c.1033T>C c.3094T>C (p.Phe1032Leu) n.2009T>C n.1111T>C c.5227T>C (p.Phe1743Leu) c.5269T>C (p.Phe1757Leu) c.5248T>C (p.Phe1750Leu) c.5242T>C (p.Phe1748Leu) c.5221T>C (p.Phe1741Leu) c.4132T>C (p.Phe1378Leu) c.5230T>C (p.Phe1744Leu) n.1112T>C	gnomAD v4
11	g.70473162A>T	CA381675905	SHANK2	c.3490T>A (p.Phe1164Ile) c.1035T>A (n.1035T>A) c.5257T>A (p.Phe1753Ile) c.2766T>A c.4120T>A (p.Phe1374Ile) c.3547T>A (p.Phe1183Ile) c.3493T>A (p.Phe1165Ile) c.261T>A (n.261T>A) c.3469T>A (p.Phe1157Ile) c.1033T>A c.3094T>A (p.Phe1032Ile) n.2009T>A n.1111T>A c.5227T>A (p.Phe1743Ile) c.5269T>A (p.Phe1757Ile) c.5248T>A (p.Phe1750Ile) c.5242T>A (p.Phe1748Ile) c.5221T>A (p.Phe1741Ile) c.4132T>A (p.Phe1378Ile) c.5230T>A (p.Phe1744Ile) n.1112T>A
11	g.70473163T>A	CA475471170	SHANK2	c.3489A>T (p.Leu1163=) c.1034A>T (n.1034A>T) c.5256A>T (p.Leu1752=) c.2765A>T c.4119A>T (p.Leu1373=) c.3546A>T (p.Leu1182=) c.3492A>T (p.Leu1164=) c.260A>T (n.260A>T) c.3468A>T (p.Leu1156=) c.1032A>T c.3093A>T (p.Leu1031=) n.2008A>T n.1110A>T c.5226A>T (p.Leu1742=) c.5268A>T (p.Leu1756=) c.5247A>T (p.Leu1749=) c.5241A>T (p.Leu1747=) c.5220A>T (p.Leu1740=) c.4131A>T (p.Leu1377=) c.5229A>T (p.Leu1743=) n.1111A>T
11	g.70473163T>C	CA475471171	SHANK2	c.3489A>G (p.Leu1163=) c.1034A>G (n.1034A>G) c.5256A>G (p.Leu1752=) c.2765A>G c.4119A>G (p.Leu1373=) c.3546A>G (p.Leu1182=) c.3492A>G (p.Leu1164=) c.260A>G (n.260A>G) c.3468A>G (p.Leu1156=) c.1032A>G c.3093A>G (p.Leu1031=) n.2008A>G n.1110A>G c.5226A>G (p.Leu1742=) c.5268A>G (p.Leu1756=) c.5247A>G (p.Leu1749=) c.5241A>G (p.Leu1747=) c.5220A>G (p.Leu1740=) c.4131A>G (p.Leu1377=) c.5229A>G (p.Leu1743=) n.1111A>G	dbSNP gnomAD v3 gnomAD v4
11	g.70473163T>G	CA475471172	SHANK2	c.3489A>C (p.Leu1163=) c.1034A>C (n.1034A>C) c.5256A>C (p.Leu1752=) c.2765A>C c.4119A>C (p.Leu1373=) c.3546A>C (p.Leu1182=) c.3492A>C (p.Leu1164=) c.260A>C (n.260A>C) c.3468A>C (p.Leu1156=) c.1032A>C c.3093A>C (p.Leu1031=) n.2008A>C n.1110A>C c.5226A>C (p.Leu1742=) c.5268A>C (p.Leu1756=) c.5247A>C (p.Leu1749=) c.5241A>C (p.Leu1747=) c.5220A>C (p.Leu1740=) c.4131A>C (p.Leu1377=) c.5229A>C (p.Leu1743=) n.1111A>C	dbSNP gnomAD v2 gnomAD v4
11	g.70473163T=	CA1981067932	SHANK2	c.3489A= (p.Leu1163=) c.1034A= (n.1034A=) c.5256A= (p.Leu1752=) c.2765A= c.4119A= (p.Leu1373=) c.3546A= (p.Leu1182=) c.3492A= (p.Leu1164=) c.260A= (n.260A=) c.3468A= (p.Leu1156=) c.1032A= c.3093A= (p.Leu1031=) n.2008A= n.1110A= c.5226A= (p.Leu1742=) c.5268A= (p.Leu1756=) c.5247A= (p.Leu1749=) c.5241A= (p.Leu1747=) c.5220A= (p.Leu1740=) c.4131A= (p.Leu1377=) c.5229A= (p.Leu1743=) n.1111A=
11	g.70473164A>C	CA381675908	SHANK2	c.3488T>G (p.Leu1163Arg) c.1033T>G (n.1033T>G) c.5255T>G (p.Leu1752Arg) c.2764T>G c.4118T>G (p.Leu1373Arg) c.3545T>G (p.Leu1182Arg) c.3491T>G (p.Leu1164Arg) c.259T>G (n.259T>G) c.3467T>G (p.Leu1156Arg) c.1031T>G c.3092T>G (p.Leu1031Arg) n.2007T>G n.1109T>G c.5225T>G (p.Leu1742Arg) c.5267T>G (p.Leu1756Arg) c.5246T>G (p.Leu1749Arg) c.5240T>G (p.Leu1747Arg) c.5219T>G (p.Leu1740Arg) c.4130T>G (p.Leu1377Arg) c.5228T>G (p.Leu1743Arg) n.1110T>G
11	g.70473164A>G	CA381675910	SHANK2	c.3488T>C (p.Leu1163Pro) c.1033T>C (n.1033T>C) c.5255T>C (p.Leu1752Pro) c.2764T>C c.4118T>C (p.Leu1373Pro) c.3545T>C (p.Leu1182Pro) c.3491T>C (p.Leu1164Pro) c.259T>C (n.259T>C) c.3467T>C (p.Leu1156Pro) c.1031T>C c.3092T>C (p.Leu1031Pro) n.2007T>C n.1109T>C c.5225T>C (p.Leu1742Pro) c.5267T>C (p.Leu1756Pro) c.5246T>C (p.Leu1749Pro) c.5240T>C (p.Leu1747Pro) c.5219T>C (p.Leu1740Pro) c.4130T>C (p.Leu1377Pro) c.5228T>C (p.Leu1743Pro) n.1110T>C
11	g.70473164A>T	CA381675912	SHANK2	c.3488T>A (p.Leu1163Gln) c.1033T>A (n.1033T>A) c.5255T>A (p.Leu1752Gln) c.2764T>A c.4118T>A (p.Leu1373Gln) c.3545T>A (p.Leu1182Gln) c.3491T>A (p.Leu1164Gln) c.259T>A (n.259T>A) c.3467T>A (p.Leu1156Gln) c.1031T>A c.3092T>A (p.Leu1031Gln) n.2007T>A n.1109T>A c.5225T>A (p.Leu1742Gln) c.5267T>A (p.Leu1756Gln) c.5246T>A (p.Leu1749Gln) c.5240T>A (p.Leu1747Gln) c.5219T>A (p.Leu1740Gln) c.4130T>A (p.Leu1377Gln) c.5228T>A (p.Leu1743Gln) n.1110T>A
11	g.70473165G>A	CA475471173	SHANK2	c.3487C>T (p.Leu1163=) c.1032C>T (n.1032C>T) c.5254C>T (p.Leu1752=) c.2763C>T c.4117C>T (p.Leu1373=) c.3544C>T (p.Leu1182=) c.3490C>T (p.Leu1164=) c.258C>T (n.258C>T) c.3466C>T (p.Leu1156=) c.1030C>T c.3091C>T (p.Leu1031=) n.2006C>T n.1108C>T c.5224C>T (p.Leu1742=) c.5266C>T (p.Leu1756=) c.5245C>T (p.Leu1749=) c.5239C>T (p.Leu1747=) c.5218C>T (p.Leu1740=) c.4129C>T (p.Leu1377=) c.5227C>T (p.Leu1743=) n.1109C>T
11	g.70473165G>C	CA381675915	SHANK2	c.3487C>G (p.Leu1163Val) c.1032C>G (n.1032C>G) c.5254C>G (p.Leu1752Val) c.2763C>G c.4117C>G (p.Leu1373Val) c.3544C>G (p.Leu1182Val) c.3490C>G (p.Leu1164Val) c.258C>G (n.258C>G) c.3466C>G (p.Leu1156Val) c.1030C>G c.3091C>G (p.Leu1031Val) n.2006C>G n.1108C>G c.5224C>G (p.Leu1742Val) c.5266C>G (p.Leu1756Val) c.5245C>G (p.Leu1749Val) c.5239C>G (p.Leu1747Val) c.5218C>G (p.Leu1740Val) c.4129C>G (p.Leu1377Val) c.5227C>G (p.Leu1743Val) n.1109C>G
11	g.70473165G>T	CA381675917	SHANK2	c.3487C>A (p.Leu1163Ile) c.1032C>A (n.1032C>A) c.5254C>A (p.Leu1752Ile) c.2763C>A c.4117C>A (p.Leu1373Ile) c.3544C>A (p.Leu1182Ile) c.3490C>A (p.Leu1164Ile) c.258C>A (n.258C>A) c.3466C>A (p.Leu1156Ile) c.1030C>A c.3091C>A (p.Leu1031Ile) n.2006C>A n.1108C>A c.5224C>A (p.Leu1742Ile) c.5266C>A (p.Leu1756Ile) c.5245C>A (p.Leu1749Ile) c.5239C>A (p.Leu1747Ile) c.5218C>A (p.Leu1740Ile) c.4129C>A (p.Leu1377Ile) c.5227C>A (p.Leu1743Ile) n.1109C>A
11	g.70473166A>C	CA381675919	SHANK2	c.3486T>G (p.Asp1162Glu) c.1031T>G (n.1031T>G) c.5253T>G (p.Asp1751Glu) c.2762T>G c.4116T>G (p.Asp1372Glu) c.3543T>G (p.Asp1181Glu) c.3489T>G (p.Asp1163Glu) c.257T>G (n.257T>G) c.3465T>G (p.Asp1155Glu) c.1029T>G c.3090T>G (p.Asp1030Glu) n.2005T>G n.1107T>G c.5223T>G (p.Asp1741Glu) c.5265T>G (p.Asp1755Glu) c.5244T>G (p.Asp1748Glu) c.5238T>G (p.Asp1746Glu) c.5217T>G (p.Asp1739Glu) c.4128T>G (p.Asp1376Glu) c.5226T>G (p.Asp1742Glu) n.1108T>G
11	g.70473166A>G	CA475471174	SHANK2	c.3486T>C (p.Asp1162=) c.1031T>C (n.1031T>C) c.5253T>C (p.Asp1751=) c.2762T>C c.4116T>C (p.Asp1372=) c.3543T>C (p.Asp1181=) c.3489T>C (p.Asp1163=) c.257T>C (n.257T>C) c.3465T>C (p.Asp1155=) c.1029T>C c.3090T>C (p.Asp1030=) n.2005T>C n.1107T>C c.5223T>C (p.Asp1741=) c.5265T>C (p.Asp1755=) c.5244T>C (p.Asp1748=) c.5238T>C (p.Asp1746=) c.5217T>C (p.Asp1739=) c.4128T>C (p.Asp1376=) c.5226T>C (p.Asp1742=) n.1108T>C
11	g.70473166A>T	CA381675921	SHANK2	c.3486T>A (p.Asp1162Glu) c.1031T>A (n.1031T>A) c.5253T>A (p.Asp1751Glu) c.2762T>A c.4116T>A (p.Asp1372Glu) c.3543T>A (p.Asp1181Glu) c.3489T>A (p.Asp1163Glu) c.257T>A (n.257T>A) c.3465T>A (p.Asp1155Glu) c.1029T>A c.3090T>A (p.Asp1030Glu) n.2005T>A n.1107T>A c.5223T>A (p.Asp1741Glu) c.5265T>A (p.Asp1755Glu) c.5244T>A (p.Asp1748Glu) c.5238T>A (p.Asp1746Glu) c.5217T>A (p.Asp1739Glu) c.4128T>A (p.Asp1376Glu) c.5226T>A (p.Asp1742Glu) n.1108T>A
11	g.70473167T>A	CA381675924	SHANK2	c.3485A>T (p.Asp1162Val) c.1030A>T (n.1030A>T) c.5252A>T (p.Asp1751Val) c.2761A>T c.4115A>T (p.Asp1372Val) c.3542A>T (p.Asp1181Val) c.3488A>T (p.Asp1163Val) c.256A>T (n.256A>T) c.3464A>T (p.Asp1155Val) c.1028A>T c.3089A>T (p.Asp1030Val) n.2004A>T n.1106A>T c.5222A>T (p.Asp1741Val) c.5264A>T (p.Asp1755Val) c.5243A>T (p.Asp1748Val) c.5237A>T (p.Asp1746Val) c.5216A>T (p.Asp1739Val) c.4127A>T (p.Asp1376Val) c.5225A>T (p.Asp1742Val) n.1107A>T	gnomAD v4
11	g.70473167T>C	CA381675938	SHANK2	c.3485A>G (p.Asp1162Gly) c.1030A>G (n.1030A>G) c.5252A>G (p.Asp1751Gly) c.2761A>G c.4115A>G (p.Asp1372Gly) c.3542A>G (p.Asp1181Gly) c.3488A>G (p.Asp1163Gly) c.256A>G (n.256A>G) c.3464A>G (p.Asp1155Gly) c.1028A>G c.3089A>G (p.Asp1030Gly) n.2004A>G n.1106A>G c.5222A>G (p.Asp1741Gly) c.5264A>G (p.Asp1755Gly) c.5243A>G (p.Asp1748Gly) c.5237A>G (p.Asp1746Gly) c.5216A>G (p.Asp1739Gly) c.4127A>G (p.Asp1376Gly) c.5225A>G (p.Asp1742Gly) n.1107A>G
11	g.70473167T>G	CA381675929	SHANK2	c.3485A>C (p.Asp1162Ala) c.1030A>C (n.1030A>C) c.5252A>C (p.Asp1751Ala) c.2761A>C c.4115A>C (p.Asp1372Ala) c.3542A>C (p.Asp1181Ala) c.3488A>C (p.Asp1163Ala) c.256A>C (n.256A>C) c.3464A>C (p.Asp1155Ala) c.1028A>C c.3089A>C (p.Asp1030Ala) n.2004A>C n.1106A>C c.5222A>C (p.Asp1741Ala) c.5264A>C (p.Asp1755Ala) c.5243A>C (p.Asp1748Ala) c.5237A>C (p.Asp1746Ala) c.5216A>C (p.Asp1739Ala) c.4127A>C (p.Asp1376Ala) c.5225A>C (p.Asp1742Ala) n.1107A>C
11	g.70473168C>A	CA381675940	SHANK2	c.3484G>T (p.Asp1162Tyr) c.1029G>T (n.1029G>T) c.5251G>T (p.Asp1751Tyr) c.2760G>T c.4114G>T (p.Asp1372Tyr) c.3541G>T (p.Asp1181Tyr) c.3487G>T (p.Asp1163Tyr) c.255G>T (n.255G>T) c.3463G>T (p.Asp1155Tyr) c.1027G>T c.3088G>T (p.Asp1030Tyr) n.2003G>T n.1105G>T c.5221G>T (p.Asp1741Tyr) c.5263G>T (p.Asp1755Tyr) c.5242G>T (p.Asp1748Tyr) c.5236G>T (p.Asp1746Tyr) c.5215G>T (p.Asp1739Tyr) c.4126G>T (p.Asp1376Tyr) c.5224G>T (p.Asp1742Tyr) n.1106G>T
11	g.70473168C=	CA1981067933	SHANK2	c.3484G= (p.Asp1162=) c.1029G= (n.1029G=) c.5251G= (p.Asp1751=) c.2760G= c.4114G= (p.Asp1372=) c.3541G= (p.Asp1181=) c.3487G= (p.Asp1163=) c.255G= (n.255G=) c.3463G= (p.Asp1155=) c.1027G= c.3088G= (p.Asp1030=) n.2003G= n.1105G= c.5221G= (p.Asp1741=) c.5263G= (p.Asp1755=) c.5242G= (p.Asp1748=) c.5236G= (p.Asp1746=) c.5215G= (p.Asp1739=) c.4126G= (p.Asp1376=) c.5224G= (p.Asp1742=) n.1106G=
11	g.70473168C>G	CA381675942	SHANK2	c.3484G>C (p.Asp1162His) c.1029G>C (n.1029G>C) c.5251G>C (p.Asp1751His) c.2760G>C c.4114G>C (p.Asp1372His) c.3541G>C (p.Asp1181His) c.3487G>C (p.Asp1163His) c.255G>C (n.255G>C) c.3463G>C (p.Asp1155His) c.1027G>C c.3088G>C (p.Asp1030His) n.2003G>C n.1105G>C c.5221G>C (p.Asp1741His) c.5263G>C (p.Asp1755His) c.5242G>C (p.Asp1748His) c.5236G>C (p.Asp1746His) c.5215G>C (p.Asp1739His) c.4126G>C (p.Asp1376His) c.5224G>C (p.Asp1742His) n.1106G>C	dbSNP gnomAD v3 gnomAD v4
11	g.70473168C>T	CA6160734	SHANK2	c.3484G>A (p.Asp1162Asn) c.1029G>A (n.1029G>A) c.5251G>A (p.Asp1751Asn) c.2760G>A c.4114G>A (p.Asp1372Asn) c.3541G>A (p.Asp1181Asn) c.3487G>A (p.Asp1163Asn) c.255G>A (n.255G>A) c.3463G>A (p.Asp1155Asn) c.1027G>A c.3088G>A (p.Asp1030Asn) n.2003G>A n.1105G>A c.5221G>A (p.Asp1741Asn) c.5263G>A (p.Asp1755Asn) c.5242G>A (p.Asp1748Asn) c.5236G>A (p.Asp1746Asn) c.5215G>A (p.Asp1739Asn) c.4126G>A (p.Asp1376Asn) c.5224G>A (p.Asp1742Asn) n.1106G>A	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473169C>A	CA475471177	SHANK2	c.3483G>T (p.Gly1161=) c.1028G>T (n.1028G>T) c.5250G>T (p.Gly1750=) c.2759G>T c.4113G>T (p.Gly1371=) c.3540G>T (p.Gly1180=) c.3486G>T (p.Gly1162=) c.254G>T (n.254G>T) c.3462G>T (p.Gly1154=) c.1026G>T c.3087G>T (p.Gly1029=) n.2002G>T n.1104G>T c.5220G>T (p.Gly1740=) c.5262G>T (p.Gly1754=) c.5241G>T (p.Gly1747=) c.5235G>T (p.Gly1745=) c.5214G>T (p.Gly1738=) c.4125G>T (p.Gly1375=) c.5223G>T (p.Gly1741=) n.1105G>T
11	g.70473169C=	CA1981067934	SHANK2	c.3483G= (p.Gly1161=) c.1028G= (n.1028G=) c.5250G= (p.Gly1750=) c.2759G= c.4113G= (p.Gly1371=) c.3540G= (p.Gly1180=) c.3486G= (p.Gly1162=) c.254G= (n.254G=) c.3462G= (p.Gly1154=) c.1026G= c.3087G= (p.Gly1029=) n.2002G= n.1104G= c.5220G= (p.Gly1740=) c.5262G= (p.Gly1754=) c.5241G= (p.Gly1747=) c.5235G= (p.Gly1745=) c.5214G= (p.Gly1738=) c.4125G= (p.Gly1375=) c.5223G= (p.Gly1741=) n.1105G=
11	g.70473169C>G	CA475471178	SHANK2	c.3483G>C (p.Gly1161=) c.1028G>C (n.1028G>C) c.5250G>C (p.Gly1750=) c.2759G>C c.4113G>C (p.Gly1371=) c.3540G>C (p.Gly1180=) c.3486G>C (p.Gly1162=) c.254G>C (n.254G>C) c.3462G>C (p.Gly1154=) c.1026G>C c.3087G>C (p.Gly1029=) n.2002G>C n.1104G>C c.5220G>C (p.Gly1740=) c.5262G>C (p.Gly1754=) c.5241G>C (p.Gly1747=) c.5235G>C (p.Gly1745=) c.5214G>C (p.Gly1738=) c.4125G>C (p.Gly1375=) c.5223G>C (p.Gly1741=) n.1105G>C
11	g.70473169C>T	CA6160735	SHANK2	c.3483G>A (p.Gly1161=) c.1028G>A (n.1028G>A) c.5250G>A (p.Gly1750=) c.2759G>A c.4113G>A (p.Gly1371=) c.3540G>A (p.Gly1180=) c.3486G>A (p.Gly1162=) c.254G>A (n.254G>A) c.3462G>A (p.Gly1154=) c.1026G>A c.3087G>A (p.Gly1029=) n.2002G>A n.1104G>A c.5220G>A (p.Gly1740=) c.5262G>A (p.Gly1754=) c.5241G>A (p.Gly1747=) c.5235G>A (p.Gly1745=) c.5214G>A (p.Gly1738=) c.4125G>A (p.Gly1375=) c.5223G>A (p.Gly1741=) n.1105G>A	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473169_70473170insAAA	CA2792603587	SHANK2	c.3482_3483insTTT (p.Gly1161_Asp1162insLeu) c.1027_1028insTTT (n.1027_1028insTTT) c.5249_5250insTTT (p.Gly1750_Asp1751insLeu) c.2758_2759insTTT c.4112_4113insTTT (p.Gly1371_Asp1372insLeu) c.3539_3540insTTT (p.Gly1180_Asp1181insLeu) c.3485_3486insTTT (p.Gly1162_Asp1163insLeu) c.253_254insTTT (n.253_254insTTT) c.3461_3462insTTT (p.Gly1154_Asp1155insLeu) c.1025_1026insTTT c.3086_3087insTTT (p.Gly1029_Asp1030insLeu) n.2001_2002insTTT n.1103_1104insTTT c.5219_5220insTTT (p.Gly1740_Asp1741insLeu) c.5261_5262insTTT (p.Gly1754_Asp1755insLeu) c.5240_5241insTTT (p.Gly1747_Asp1748insLeu) c.5234_5235insTTT (p.Gly1745_Asp1746insLeu) c.5213_5214insTTT (p.Gly1738_Asp1739insLeu) c.4124_4125insTTT (p.Gly1375_Asp1376insLeu) c.5222_5223insTTT (p.Gly1741_Asp1742insLeu) n.1104_1105insTTT
11	g.70473169_70473170insAACA	CA2792603586	SHANK2	c.3482_3483insTGTT (p.Asp1162ValfsTer13) c.1027_1028insTGTT (n.1027_1028insTGTT) c.5249_5250insTGTT (p.Asp1751ValfsTer13) c.2758_2759insTGTT c.4112_4113insTGTT (p.Asp1372ValfsTer13) c.3539_3540insTGTT (p.Asp1181ValfsTer13) c.3485_3486insTGTT (p.Asp1163ValfsTer13) c.253_254insTGTT (n.253_254insTGTT) c.3461_3462insTGTT (p.Asp1155ValfsTer13) c.1025_1026insTGTT c.3086_3087insTGTT (p.Asp1030ValfsTer13) n.2001_2002insTGTT n.1103_1104insTGTT c.5219_5220insTGTT (p.Asp1741ValfsTer13) c.5261_5262insTGTT (p.Asp1755ValfsTer13) c.5240_5241insTGTT (p.Asp1748ValfsTer13) c.5234_5235insTGTT (p.Asp1746ValfsTer13) c.5213_5214insTGTT (p.Asp1739ValfsTer13) c.4124_4125insTGTT (p.Asp1376ValfsTer13) c.5222_5223insTGTT (p.Asp1742ValfsTer13) n.1104_1105insTGTT
11	g.70473170C>A	CA381675948	SHANK2	c.3482G>T (p.Gly1161Val) c.1027G>T (n.1027G>T) c.5249G>T (p.Gly1750Val) c.2758G>T c.4112G>T (p.Gly1371Val) c.3539G>T (p.Gly1180Val) c.3485G>T (p.Gly1162Val) c.253G>T (n.253G>T) c.3461G>T (p.Gly1154Val) c.1025G>T c.3086G>T (p.Gly1029Val) n.2001G>T n.1103G>T c.5219G>T (p.Gly1740Val) c.5261G>T (p.Gly1754Val) c.5240G>T (p.Gly1747Val) c.5234G>T (p.Gly1745Val) c.5213G>T (p.Gly1738Val) c.4124G>T (p.Gly1375Val) c.5222G>T (p.Gly1741Val) n.1104G>T
11	g.70473170C>G	CA381675949	SHANK2	c.3482G>C (p.Gly1161Ala) c.1027G>C (n.1027G>C) c.5249G>C (p.Gly1750Ala) c.2758G>C c.4112G>C (p.Gly1371Ala) c.3539G>C (p.Gly1180Ala) c.3485G>C (p.Gly1162Ala) c.253G>C (n.253G>C) c.3461G>C (p.Gly1154Ala) c.1025G>C c.3086G>C (p.Gly1029Ala) n.2001G>C n.1103G>C c.5219G>C (p.Gly1740Ala) c.5261G>C (p.Gly1754Ala) c.5240G>C (p.Gly1747Ala) c.5234G>C (p.Gly1745Ala) c.5213G>C (p.Gly1738Ala) c.4124G>C (p.Gly1375Ala) c.5222G>C (p.Gly1741Ala) n.1104G>C
11	g.70473170C>T	CA381675952	SHANK2	c.3482G>A (p.Gly1161Glu) c.1027G>A (n.1027G>A) c.5249G>A (p.Gly1750Glu) c.2758G>A c.4112G>A (p.Gly1371Glu) c.3539G>A (p.Gly1180Glu) c.3485G>A (p.Gly1162Glu) c.253G>A (n.253G>A) c.3461G>A (p.Gly1154Glu) c.1025G>A c.3086G>A (p.Gly1029Glu) n.2001G>A n.1103G>A c.5219G>A (p.Gly1740Glu) c.5261G>A (p.Gly1754Glu) c.5240G>A (p.Gly1747Glu) c.5234G>A (p.Gly1745Glu) c.5213G>A (p.Gly1738Glu) c.4124G>A (p.Gly1375Glu) c.5222G>A (p.Gly1741Glu) n.1104G>A
11	g.70473170_70473171insACACCCAACA	CA2792603588	SHANK2	c.3481_3482insTGTTGGGTGT (p.Gly1161ValfsTer16) c.1026_1027insTGTTGGGTGT (n.1026_1027insTGTTGGGTGT) c.5248_5249insTGTTGGGTGT (p.Gly1750ValfsTer16) c.2757_2758insTGTTGGGTGT c.4111_4112insTGTTGGGTGT (p.Gly1371ValfsTer16) c.3538_3539insTGTTGGGTGT (p.Gly1180ValfsTer16) c.3484_3485insTGTTGGGTGT (p.Gly1162ValfsTer16) c.252_253insTGTTGGGTGT (n.252_253insTGTTGGGTGT) c.3460_3461insTGTTGGGTGT (p.Gly1154ValfsTer16) c.1024_1025insTGTTGGGTGT c.3085_3086insTGTTGGGTGT (p.Gly1029ValfsTer16) n.2000_2001insTGTTGGGTGT n.1102_1103insTGTTGGGTGT c.5218_5219insTGTTGGGTGT (p.Gly1740ValfsTer16) c.5260_5261insTGTTGGGTGT (p.Gly1754ValfsTer16) c.5239_5240insTGTTGGGTGT (p.Gly1747ValfsTer16) c.5233_5234insTGTTGGGTGT (p.Gly1745ValfsTer16) c.5212_5213insTGTTGGGTGT (p.Gly1738ValfsTer16) c.4123_4124insTGTTGGGTGT (p.Gly1375ValfsTer16) c.5221_5222insTGTTGGGTGT (p.Gly1741ValfsTer16) n.1103_1104insTGTTGGGTGT
11	g.70473171C>A	CA381675956	SHANK2	c.3481G>T (p.Gly1161Trp) c.1026G>T (n.1026G>T) c.5248G>T (p.Gly1750Trp) c.2757G>T c.4111G>T (p.Gly1371Trp) c.3538G>T (p.Gly1180Trp) c.3484G>T (p.Gly1162Trp) c.252G>T (n.252G>T) c.3460G>T (p.Gly1154Trp) c.1024G>T c.3085G>T (p.Gly1029Trp) n.2000G>T n.1102G>T c.5218G>T (p.Gly1740Trp) c.5260G>T (p.Gly1754Trp) c.5239G>T (p.Gly1747Trp) c.5233G>T (p.Gly1745Trp) c.5212G>T (p.Gly1738Trp) c.4123G>T (p.Gly1375Trp) c.5221G>T (p.Gly1741Trp) n.1103G>T
11	g.70473171C>G	CA381675957	SHANK2	c.3481G>C (p.Gly1161Arg) c.1026G>C (n.1026G>C) c.5248G>C (p.Gly1750Arg) c.2757G>C c.4111G>C (p.Gly1371Arg) c.3538G>C (p.Gly1180Arg) c.3484G>C (p.Gly1162Arg) c.252G>C (n.252G>C) c.3460G>C (p.Gly1154Arg) c.1024G>C c.3085G>C (p.Gly1029Arg) n.2000G>C n.1102G>C c.5218G>C (p.Gly1740Arg) c.5260G>C (p.Gly1754Arg) c.5239G>C (p.Gly1747Arg) c.5233G>C (p.Gly1745Arg) c.5212G>C (p.Gly1738Arg) c.4123G>C (p.Gly1375Arg) c.5221G>C (p.Gly1741Arg) n.1103G>C
11	g.70473171C>T	CA381675959	SHANK2	c.3481G>A (p.Gly1161Arg) c.1026G>A (n.1026G>A) c.5248G>A (p.Gly1750Arg) c.2757G>A c.4111G>A (p.Gly1371Arg) c.3538G>A (p.Gly1180Arg) c.3484G>A (p.Gly1162Arg) c.252G>A (n.252G>A) c.3460G>A (p.Gly1154Arg) c.1024G>A c.3085G>A (p.Gly1029Arg) n.2000G>A n.1102G>A c.5218G>A (p.Gly1740Arg) c.5260G>A (p.Gly1754Arg) c.5239G>A (p.Gly1747Arg) c.5233G>A (p.Gly1745Arg) c.5212G>A (p.Gly1738Arg) c.4123G>A (p.Gly1375Arg) c.5221G>A (p.Gly1741Arg) n.1103G>A	ClinVar
11	g.70473172A=	CA1981067935	SHANK2	c.3480T= (p.Ser1160=) c.1025T= (n.1025T=) c.5247T= (p.Ser1749=) c.2756T= c.4110T= (p.Ser1370=) c.3537T= (p.Ser1179=) c.3483T= (p.Ser1161=) c.251T= (n.251T=) c.3459T= (p.Ser1153=) c.1023T= c.3084T= (p.Ser1028=) n.1999T= n.1101T= c.5217T= (p.Ser1739=) c.5259T= (p.Ser1753=) c.5238T= (p.Ser1746=) c.5232T= (p.Ser1744=) c.5211T= (p.Ser1737=) c.4122T= (p.Ser1374=) c.5220T= (p.Ser1740=) n.1102T=
11	g.70473172A>C	CA475471181	SHANK2	c.3480T>G (p.Ser1160=) c.1025T>G (n.1025T>G) c.5247T>G (p.Ser1749=) c.2756T>G c.4110T>G (p.Ser1370=) c.3537T>G (p.Ser1179=) c.3483T>G (p.Ser1161=) c.251T>G (n.251T>G) c.3459T>G (p.Ser1153=) c.1023T>G c.3084T>G (p.Ser1028=) n.1999T>G n.1101T>G c.5217T>G (p.Ser1739=) c.5259T>G (p.Ser1753=) c.5238T>G (p.Ser1746=) c.5232T>G (p.Ser1744=) c.5211T>G (p.Ser1737=) c.4122T>G (p.Ser1374=) c.5220T>G (p.Ser1740=) n.1102T>G	dbSNP
11	g.70473172A>G	CA475471183	SHANK2	c.3480T>C (p.Ser1160=) c.1025T>C (n.1025T>C) c.5247T>C (p.Ser1749=) c.2756T>C c.4110T>C (p.Ser1370=) c.3537T>C (p.Ser1179=) c.3483T>C (p.Ser1161=) c.251T>C (n.251T>C) c.3459T>C (p.Ser1153=) c.1023T>C c.3084T>C (p.Ser1028=) n.1999T>C n.1101T>C c.5217T>C (p.Ser1739=) c.5259T>C (p.Ser1753=) c.5238T>C (p.Ser1746=) c.5232T>C (p.Ser1744=) c.5211T>C (p.Ser1737=) c.4122T>C (p.Ser1374=) c.5220T>C (p.Ser1740=) n.1102T>C
11	g.70473172A>T	CA475471185	SHANK2	c.3480T>A (p.Ser1160=) c.1025T>A (n.1025T>A) c.5247T>A (p.Ser1749=) c.2756T>A c.4110T>A (p.Ser1370=) c.3537T>A (p.Ser1179=) c.3483T>A (p.Ser1161=) c.251T>A (n.251T>A) c.3459T>A (p.Ser1153=) c.1023T>A c.3084T>A (p.Ser1028=) n.1999T>A n.1101T>A c.5217T>A (p.Ser1739=) c.5259T>A (p.Ser1753=) c.5238T>A (p.Ser1746=) c.5232T>A (p.Ser1744=) c.5211T>A (p.Ser1737=) c.4122T>A (p.Ser1374=) c.5220T>A (p.Ser1740=) n.1102T>A
11	g.70473173G>A	CA381675963	SHANK2	c.3479C>T (p.Ser1160Phe) c.1024C>T (n.1024C>T) c.5246C>T (p.Ser1749Phe) c.2755C>T c.4109C>T (p.Ser1370Phe) c.3536C>T (p.Ser1179Phe) c.3482C>T (p.Ser1161Phe) c.250C>T (n.250C>T) c.3458C>T (p.Ser1153Phe) c.1022C>T c.3083C>T (p.Ser1028Phe) n.1998C>T n.1100C>T c.5216C>T (p.Ser1739Phe) c.5258C>T (p.Ser1753Phe) c.5237C>T (p.Ser1746Phe) c.5231C>T (p.Ser1744Phe) c.5210C>T (p.Ser1737Phe) c.4121C>T (p.Ser1374Phe) c.5219C>T (p.Ser1740Phe) n.1101C>T
11	g.70473173G>C	CA381675964	SHANK2	c.3479C>G (p.Ser1160Cys) c.1024C>G (n.1024C>G) c.5246C>G (p.Ser1749Cys) c.2755C>G c.4109C>G (p.Ser1370Cys) c.3536C>G (p.Ser1179Cys) c.3482C>G (p.Ser1161Cys) c.250C>G (n.250C>G) c.3458C>G (p.Ser1153Cys) c.1022C>G c.3083C>G (p.Ser1028Cys) n.1998C>G n.1100C>G c.5216C>G (p.Ser1739Cys) c.5258C>G (p.Ser1753Cys) c.5237C>G (p.Ser1746Cys) c.5231C>G (p.Ser1744Cys) c.5210C>G (p.Ser1737Cys) c.4121C>G (p.Ser1374Cys) c.5219C>G (p.Ser1740Cys) n.1101C>G
11	g.70473173G>T	CA381675965	SHANK2	c.3479C>A (p.Ser1160Tyr) c.1024C>A (n.1024C>A) c.5246C>A (p.Ser1749Tyr) c.2755C>A c.4109C>A (p.Ser1370Tyr) c.3536C>A (p.Ser1179Tyr) c.3482C>A (p.Ser1161Tyr) c.250C>A (n.250C>A) c.3458C>A (p.Ser1153Tyr) c.1022C>A c.3083C>A (p.Ser1028Tyr) n.1998C>A n.1100C>A c.5216C>A (p.Ser1739Tyr) c.5258C>A (p.Ser1753Tyr) c.5237C>A (p.Ser1746Tyr) c.5231C>A (p.Ser1744Tyr) c.5210C>A (p.Ser1737Tyr) c.4121C>A (p.Ser1374Tyr) c.5219C>A (p.Ser1740Tyr) n.1101C>A
11	g.70473174A>C	CA381675966	SHANK2	c.3478T>G (p.Ser1160Ala) c.1023T>G (n.1023T>G) c.5245T>G (p.Ser1749Ala) c.2754T>G c.4108T>G (p.Ser1370Ala) c.3535T>G (p.Ser1179Ala) c.3481T>G (p.Ser1161Ala) c.249T>G (n.249T>G) c.3457T>G (p.Ser1153Ala) c.1021T>G c.3082T>G (p.Ser1028Ala) n.1997T>G n.1099T>G c.5215T>G (p.Ser1739Ala) c.5257T>G (p.Ser1753Ala) c.5236T>G (p.Ser1746Ala) c.5230T>G (p.Ser1744Ala) c.5209T>G (p.Ser1737Ala) c.4120T>G (p.Ser1374Ala) c.5218T>G (p.Ser1740Ala) n.1100T>G
11	g.70473174A>G	CA381675974	SHANK2	c.3478T>C (p.Ser1160Pro) c.1023T>C (n.1023T>C) c.5245T>C (p.Ser1749Pro) c.2754T>C c.4108T>C (p.Ser1370Pro) c.3535T>C (p.Ser1179Pro) c.3481T>C (p.Ser1161Pro) c.249T>C (n.249T>C) c.3457T>C (p.Ser1153Pro) c.1021T>C c.3082T>C (p.Ser1028Pro) n.1997T>C n.1099T>C c.5215T>C (p.Ser1739Pro) c.5257T>C (p.Ser1753Pro) c.5236T>C (p.Ser1746Pro) c.5230T>C (p.Ser1744Pro) c.5209T>C (p.Ser1737Pro) c.4120T>C (p.Ser1374Pro) c.5218T>C (p.Ser1740Pro) n.1100T>C
11	g.70473174A>T	CA381675977	SHANK2	c.3478T>A (p.Ser1160Thr) c.1023T>A (n.1023T>A) c.5245T>A (p.Ser1749Thr) c.2754T>A c.4108T>A (p.Ser1370Thr) c.3535T>A (p.Ser1179Thr) c.3481T>A (p.Ser1161Thr) c.249T>A (n.249T>A) c.3457T>A (p.Ser1153Thr) c.1021T>A c.3082T>A (p.Ser1028Thr) n.1997T>A n.1099T>A c.5215T>A (p.Ser1739Thr) c.5257T>A (p.Ser1753Thr) c.5236T>A (p.Ser1746Thr) c.5230T>A (p.Ser1744Thr) c.5209T>A (p.Ser1737Thr) c.4120T>A (p.Ser1374Thr) c.5218T>A (p.Ser1740Thr) n.1100T>A
11	g.70473175A>C	CA475471186	SHANK2	c.3477T>G (p.Pro1159=) c.1022T>G (n.1022T>G) c.5244T>G (p.Pro1748=) c.2753T>G c.4107T>G (p.Pro1369=) c.3534T>G (p.Pro1178=) c.3480T>G (p.Pro1160=) c.248T>G (n.248T>G) c.3456T>G (p.Pro1152=) c.1020T>G c.3081T>G (p.Pro1027=) n.1996T>G n.1098T>G c.5214T>G (p.Pro1738=) c.5256T>G (p.Pro1752=) c.5235T>G (p.Pro1745=) c.5229T>G (p.Pro1743=) c.5208T>G (p.Pro1736=) c.4119T>G (p.Pro1373=) c.5217T>G (p.Pro1739=) n.1099T>G	gnomAD v4 COSMIC COSMIC COSMIC
11	g.70473175A>G	CA475471187	SHANK2	c.3477T>C (p.Pro1159=) c.1022T>C (n.1022T>C) c.5244T>C (p.Pro1748=) c.2753T>C c.4107T>C (p.Pro1369=) c.3534T>C (p.Pro1178=) c.3480T>C (p.Pro1160=) c.248T>C (n.248T>C) c.3456T>C (p.Pro1152=) c.1020T>C c.3081T>C (p.Pro1027=) n.1996T>C n.1098T>C c.5214T>C (p.Pro1738=) c.5256T>C (p.Pro1752=) c.5235T>C (p.Pro1745=) c.5229T>C (p.Pro1743=) c.5208T>C (p.Pro1736=) c.4119T>C (p.Pro1373=) c.5217T>C (p.Pro1739=) n.1099T>C
11	g.70473175A>T	CA475471189	SHANK2	c.3477T>A (p.Pro1159=) c.1022T>A (n.1022T>A) c.5244T>A (p.Pro1748=) c.2753T>A c.4107T>A (p.Pro1369=) c.3534T>A (p.Pro1178=) c.3480T>A (p.Pro1160=) c.248T>A (n.248T>A) c.3456T>A (p.Pro1152=) c.1020T>A c.3081T>A (p.Pro1027=) n.1996T>A n.1098T>A c.5214T>A (p.Pro1738=) c.5256T>A (p.Pro1752=) c.5235T>A (p.Pro1745=) c.5229T>A (p.Pro1743=) c.5208T>A (p.Pro1736=) c.4119T>A (p.Pro1373=) c.5217T>A (p.Pro1739=) n.1099T>A
11	g.70473176G>A	CA381675980	SHANK2	c.3476C>T (p.Pro1159Leu) c.1021C>T (n.1021C>T) c.5243C>T (p.Pro1748Leu) c.2752C>T c.4106C>T (p.Pro1369Leu) c.3533C>T (p.Pro1178Leu) c.3479C>T (p.Pro1160Leu) c.247C>T (n.247C>T) c.3455C>T (p.Pro1152Leu) c.1019C>T c.3080C>T (p.Pro1027Leu) n.1995C>T n.1097C>T c.5213C>T (p.Pro1738Leu) c.5255C>T (p.Pro1752Leu) c.5234C>T (p.Pro1745Leu) c.5228C>T (p.Pro1743Leu) c.5207C>T (p.Pro1736Leu) c.4118C>T (p.Pro1373Leu) c.5216C>T (p.Pro1739Leu) n.1098C>T
11	g.70473176G>C	CA381675984	SHANK2	c.3476C>G (p.Pro1159Arg) c.1021C>G (n.1021C>G) c.5243C>G (p.Pro1748Arg) c.2752C>G c.4106C>G (p.Pro1369Arg) c.3533C>G (p.Pro1178Arg) c.3479C>G (p.Pro1160Arg) c.247C>G (n.247C>G) c.3455C>G (p.Pro1152Arg) c.1019C>G c.3080C>G (p.Pro1027Arg) n.1995C>G n.1097C>G c.5213C>G (p.Pro1738Arg) c.5255C>G (p.Pro1752Arg) c.5234C>G (p.Pro1745Arg) c.5228C>G (p.Pro1743Arg) c.5207C>G (p.Pro1736Arg) c.4118C>G (p.Pro1373Arg) c.5216C>G (p.Pro1739Arg) n.1098C>G	gnomAD v4
11	g.70473176G>T	CA381675981	SHANK2	c.3476C>A (p.Pro1159His) c.1021C>A (n.1021C>A) c.5243C>A (p.Pro1748His) c.2752C>A c.4106C>A (p.Pro1369His) c.3533C>A (p.Pro1178His) c.3479C>A (p.Pro1160His) c.247C>A (n.247C>A) c.3455C>A (p.Pro1152His) c.1019C>A c.3080C>A (p.Pro1027His) n.1995C>A n.1097C>A c.5213C>A (p.Pro1738His) c.5255C>A (p.Pro1752His) c.5234C>A (p.Pro1745His) c.5228C>A (p.Pro1743His) c.5207C>A (p.Pro1736His) c.4118C>A (p.Pro1373His) c.5216C>A (p.Pro1739His) n.1098C>A	COSMIC COSMIC COSMIC
11	g.70473180dup	CA2792603589	SHANK2	c.3476dup (p.Ser1160PhefsTer14) c.1021dup (n.1021dup) c.5243dup (p.Ser1749PhefsTer14) c.2752dup c.4106dup (p.Ser1370PhefsTer14) c.3533dup (p.Ser1179PhefsTer14) c.3479dup (p.Ser1161PhefsTer14) c.247dup (n.247dup) c.3455dup (p.Ser1153PhefsTer14) c.1019dup c.3080dup (p.Ser1028PhefsTer14) n.1995dup n.1097dup c.5213dup (p.Ser1739PhefsTer14) c.5255dup (p.Ser1753PhefsTer14) c.5234dup (p.Ser1746PhefsTer14) c.5228dup (p.Ser1744PhefsTer14) c.5207dup (p.Ser1737PhefsTer14) c.4118dup (p.Ser1374PhefsTer14) c.5216dup (p.Ser1740PhefsTer14) n.1098dup
11	g.70473177G>A	CA6160736	SHANK2	c.3475C>T (p.Pro1159Ser) c.1020C>T (n.1020C>T) c.5242C>T (p.Pro1748Ser) c.2751C>T c.4105C>T (p.Pro1369Ser) c.3532C>T (p.Pro1178Ser) c.3478C>T (p.Pro1160Ser) c.246C>T (n.246C>T) c.3454C>T (p.Pro1152Ser) c.1018C>T c.3079C>T (p.Pro1027Ser) n.1994C>T n.1096C>T c.5212C>T (p.Pro1738Ser) c.5254C>T (p.Pro1752Ser) c.5233C>T (p.Pro1745Ser) c.5227C>T (p.Pro1743Ser) c.5206C>T (p.Pro1736Ser) c.4117C>T (p.Pro1373Ser) c.5215C>T (p.Pro1739Ser) n.1097C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11	g.70473177G>C	CA6160737	SHANK2	c.3475C>G (p.Pro1159Ala) c.1020C>G (n.1020C>G) c.5242C>G (p.Pro1748Ala) c.2751C>G c.4105C>G (p.Pro1369Ala) c.3532C>G (p.Pro1178Ala) c.3478C>G (p.Pro1160Ala) c.246C>G (n.246C>G) c.3454C>G (p.Pro1152Ala) c.1018C>G c.3079C>G (p.Pro1027Ala) n.1994C>G n.1096C>G c.5212C>G (p.Pro1738Ala) c.5254C>G (p.Pro1752Ala) c.5233C>G (p.Pro1745Ala) c.5227C>G (p.Pro1743Ala) c.5206C>G (p.Pro1736Ala) c.4117C>G (p.Pro1373Ala) c.5215C>G (p.Pro1739Ala) n.1097C>G	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473177G=	CA1981067936	SHANK2	c.3475C= (p.Pro1159=) c.1020C= (n.1020C=) c.5242C= (p.Pro1748=) c.2751C= c.4105C= (p.Pro1369=) c.3532C= (p.Pro1178=) c.3478C= (p.Pro1160=) c.246C= (n.246C=) c.3454C= (p.Pro1152=) c.1018C= c.3079C= (p.Pro1027=) n.1994C= n.1096C= c.5212C= (p.Pro1738=) c.5254C= (p.Pro1752=) c.5233C= (p.Pro1745=) c.5227C= (p.Pro1743=) c.5206C= (p.Pro1736=) c.4117C= (p.Pro1373=) c.5215C= (p.Pro1739=) n.1097C=
11	g.70473177G>T	CA381675990	SHANK2	c.3475C>A (p.Pro1159Thr) c.1020C>A (n.1020C>A) c.5242C>A (p.Pro1748Thr) c.2751C>A c.4105C>A (p.Pro1369Thr) c.3532C>A (p.Pro1178Thr) c.3478C>A (p.Pro1160Thr) c.246C>A (n.246C>A) c.3454C>A (p.Pro1152Thr) c.1018C>A c.3079C>A (p.Pro1027Thr) n.1994C>A n.1096C>A c.5212C>A (p.Pro1738Thr) c.5254C>A (p.Pro1752Thr) c.5233C>A (p.Pro1745Thr) c.5227C>A (p.Pro1743Thr) c.5206C>A (p.Pro1736Thr) c.4117C>A (p.Pro1373Thr) c.5215C>A (p.Pro1739Thr) n.1097C>A
11	g.70473178G>A	CA6160739	SHANK2	c.3474C>T (p.Pro1158=) c.1019C>T (n.1019C>T) c.5241C>T (p.Pro1747=) c.2750C>T c.4104C>T (p.Pro1368=) c.3531C>T (p.Pro1177=) c.3477C>T (p.Pro1159=) c.245C>T (n.245C>T) c.3453C>T (p.Pro1151=) c.1017C>T c.3078C>T (p.Pro1026=) n.1993C>T n.1095C>T c.5211C>T (p.Pro1737=) c.5253C>T (p.Pro1751=) c.5232C>T (p.Pro1744=) c.5226C>T (p.Pro1742=) c.5205C>T (p.Pro1735=) c.4116C>T (p.Pro1372=) c.5214C>T (p.Pro1738=) n.1096C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473178G>C	CA6160738	SHANK2	c.3474C>G (p.Pro1158=) c.1019C>G (n.1019C>G) c.5241C>G (p.Pro1747=) c.2750C>G c.4104C>G (p.Pro1368=) c.3531C>G (p.Pro1177=) c.3477C>G (p.Pro1159=) c.245C>G (n.245C>G) c.3453C>G (p.Pro1151=) c.1017C>G c.3078C>G (p.Pro1026=) n.1993C>G n.1095C>G c.5211C>G (p.Pro1737=) c.5253C>G (p.Pro1751=) c.5232C>G (p.Pro1744=) c.5226C>G (p.Pro1742=) c.5205C>G (p.Pro1735=) c.4116C>G (p.Pro1372=) c.5214C>G (p.Pro1738=) n.1096C>G	dbSNP ExAC gnomAD v2 gnomAD v4
11	g.70473178G=	CA1981067937	SHANK2	c.3474C= (p.Pro1158=) c.1019C= (n.1019C=) c.5241C= (p.Pro1747=) c.2750C= c.4104C= (p.Pro1368=) c.3531C= (p.Pro1177=) c.3477C= (p.Pro1159=) c.245C= (n.245C=) c.3453C= (p.Pro1151=) c.1017C= c.3078C= (p.Pro1026=) n.1993C= n.1095C= c.5211C= (p.Pro1737=) c.5253C= (p.Pro1751=) c.5232C= (p.Pro1744=) c.5226C= (p.Pro1742=) c.5205C= (p.Pro1735=) c.4116C= (p.Pro1372=) c.5214C= (p.Pro1738=) n.1096C=
11	g.70473178G>T	CA475471193	SHANK2	c.3474C>A (p.Pro1158=) c.1019C>A (n.1019C>A) c.5241C>A (p.Pro1747=) c.2750C>A c.4104C>A (p.Pro1368=) c.3531C>A (p.Pro1177=) c.3477C>A (p.Pro1159=) c.245C>A (n.245C>A) c.3453C>A (p.Pro1151=) c.1017C>A c.3078C>A (p.Pro1026=) n.1993C>A n.1095C>A c.5211C>A (p.Pro1737=) c.5253C>A (p.Pro1751=) c.5232C>A (p.Pro1744=) c.5226C>A (p.Pro1742=) c.5205C>A (p.Pro1735=) c.4116C>A (p.Pro1372=) c.5214C>A (p.Pro1738=) n.1096C>A
11	g.70473179G>A	CA381675991	SHANK2	c.3473C>T (p.Pro1158Leu) c.1018C>T (n.1018C>T) c.5240C>T (p.Pro1747Leu) c.2749C>T c.4103C>T (p.Pro1368Leu) c.3530C>T (p.Pro1177Leu) c.3476C>T (p.Pro1159Leu) c.244C>T (n.244C>T) c.3452C>T (p.Pro1151Leu) c.1016C>T c.3077C>T (p.Pro1026Leu) n.1992C>T n.1094C>T c.5210C>T (p.Pro1737Leu) c.5252C>T (p.Pro1751Leu) c.5231C>T (p.Pro1744Leu) c.5225C>T (p.Pro1742Leu) c.5204C>T (p.Pro1735Leu) c.4115C>T (p.Pro1372Leu) c.5213C>T (p.Pro1738Leu) n.1095C>T
11	g.70473179G>C	CA381675993	SHANK2	c.3473C>G (p.Pro1158Arg) c.1018C>G (n.1018C>G) c.5240C>G (p.Pro1747Arg) c.2749C>G c.4103C>G (p.Pro1368Arg) c.3530C>G (p.Pro1177Arg) c.3476C>G (p.Pro1159Arg) c.244C>G (n.244C>G) c.3452C>G (p.Pro1151Arg) c.1016C>G c.3077C>G (p.Pro1026Arg) n.1992C>G n.1094C>G c.5210C>G (p.Pro1737Arg) c.5252C>G (p.Pro1751Arg) c.5231C>G (p.Pro1744Arg) c.5225C>G (p.Pro1742Arg) c.5204C>G (p.Pro1735Arg) c.4115C>G (p.Pro1372Arg) c.5213C>G (p.Pro1738Arg) n.1095C>G
11	g.70473179G>T	CA381675997	SHANK2	c.3473C>A (p.Pro1158His) c.1018C>A (n.1018C>A) c.5240C>A (p.Pro1747His) c.2749C>A c.4103C>A (p.Pro1368His) c.3530C>A (p.Pro1177His) c.3476C>A (p.Pro1159His) c.244C>A (n.244C>A) c.3452C>A (p.Pro1151His) c.1016C>A c.3077C>A (p.Pro1026His) n.1992C>A n.1094C>A c.5210C>A (p.Pro1737His) c.5252C>A (p.Pro1751His) c.5231C>A (p.Pro1744His) c.5225C>A (p.Pro1742His) c.5204C>A (p.Pro1735His) c.4115C>A (p.Pro1372His) c.5213C>A (p.Pro1738His) n.1095C>A
11	g.70473180G>A	CA381676002	SHANK2	c.3472C>T (p.Pro1158Ser) c.1017C>T (n.1017C>T) c.5239C>T (p.Pro1747Ser) c.2748C>T c.4102C>T (p.Pro1368Ser) c.3529C>T (p.Pro1177Ser) c.3475C>T (p.Pro1159Ser) c.243C>T (n.243C>T) c.3451C>T (p.Pro1151Ser) c.1015C>T c.3076C>T (p.Pro1026Ser) n.1991C>T n.1093C>T c.5209C>T (p.Pro1737Ser) c.5251C>T (p.Pro1751Ser) c.5230C>T (p.Pro1744Ser) c.5224C>T (p.Pro1742Ser) c.5203C>T (p.Pro1735Ser) c.4114C>T (p.Pro1372Ser) c.5212C>T (p.Pro1738Ser) n.1094C>T	dbSNP gnomAD v4
11	g.70473180G>C	CA381676003	SHANK2	c.3472C>G (p.Pro1158Ala) c.1017C>G (n.1017C>G) c.5239C>G (p.Pro1747Ala) c.2748C>G c.4102C>G (p.Pro1368Ala) c.3529C>G (p.Pro1177Ala) c.3475C>G (p.Pro1159Ala) c.243C>G (n.243C>G) c.3451C>G (p.Pro1151Ala) c.1015C>G c.3076C>G (p.Pro1026Ala) n.1991C>G n.1093C>G c.5209C>G (p.Pro1737Ala) c.5251C>G (p.Pro1751Ala) c.5230C>G (p.Pro1744Ala) c.5224C>G (p.Pro1742Ala) c.5203C>G (p.Pro1735Ala) c.4114C>G (p.Pro1372Ala) c.5212C>G (p.Pro1738Ala) n.1094C>G
11	g.70473180G=	CA1981067938	SHANK2	c.3472C= (p.Pro1158=) c.1017C= (n.1017C=) c.5239C= (p.Pro1747=) c.2748C= c.4102C= (p.Pro1368=) c.3529C= (p.Pro1177=) c.3475C= (p.Pro1159=) c.243C= (n.243C=) c.3451C= (p.Pro1151=) c.1015C= c.3076C= (p.Pro1026=) n.1991C= n.1093C= c.5209C= (p.Pro1737=) c.5251C= (p.Pro1751=) c.5230C= (p.Pro1744=) c.5224C= (p.Pro1742=) c.5203C= (p.Pro1735=) c.4114C= (p.Pro1372=) c.5212C= (p.Pro1738=) n.1094C=
11	g.70473180G>T	CA381676004	SHANK2	c.3472C>A (p.Pro1158Thr) c.1017C>A (n.1017C>A) c.5239C>A (p.Pro1747Thr) c.2748C>A c.4102C>A (p.Pro1368Thr) c.3529C>A (p.Pro1177Thr) c.3475C>A (p.Pro1159Thr) c.243C>A (n.243C>A) c.3451C>A (p.Pro1151Thr) c.1015C>A c.3076C>A (p.Pro1026Thr) n.1991C>A n.1093C>A c.5209C>A (p.Pro1737Thr) c.5251C>A (p.Pro1751Thr) c.5230C>A (p.Pro1744Thr) c.5224C>A (p.Pro1742Thr) c.5203C>A (p.Pro1735Thr) c.4114C>A (p.Pro1372Thr) c.5212C>A (p.Pro1738Thr) n.1094C>A	dbSNP gnomAD v3 gnomAD v4
11	g.70473181C>A	CA381676005	SHANK2	c.3471G>T (p.Gln1157His) c.1016G>T (n.1016G>T) c.5238G>T (p.Gln1746His) c.2747G>T c.4101G>T (p.Gln1367His) c.3528G>T (p.Gln1176His) c.3474G>T (p.Gln1158His) c.242G>T (n.242G>T) c.3450G>T (p.Gln1150His) c.1014G>T c.3075G>T (p.Gln1025His) n.1990G>T n.1092G>T c.5208G>T (p.Gln1736His) c.5250G>T (p.Gln1750His) c.5229G>T (p.Gln1743His) c.5223G>T (p.Gln1741His) c.5202G>T (p.Gln1734His) c.4113G>T (p.Gln1371His) c.5211G>T (p.Gln1737His) n.1093G>T
11	g.70473181C=	CA1981067939	SHANK2	c.3471G= (p.Gln1157=) c.1016G= (n.1016G=) c.5238G= (p.Gln1746=) c.2747G= c.4101G= (p.Gln1367=) c.3528G= (p.Gln1176=) c.3474G= (p.Gln1158=) c.242G= (n.242G=) c.3450G= (p.Gln1150=) c.1014G= c.3075G= (p.Gln1025=) n.1990G= n.1092G= c.5208G= (p.Gln1736=) c.5250G= (p.Gln1750=) c.5229G= (p.Gln1743=) c.5223G= (p.Gln1741=) c.5202G= (p.Gln1734=) c.4113G= (p.Gln1371=) c.5211G= (p.Gln1737=) n.1093G=
11	g.70473181C>G	CA381676006	SHANK2	c.3471G>C (p.Gln1157His) c.1016G>C (n.1016G>C) c.5238G>C (p.Gln1746His) c.2747G>C c.4101G>C (p.Gln1367His) c.3528G>C (p.Gln1176His) c.3474G>C (p.Gln1158His) c.242G>C (n.242G>C) c.3450G>C (p.Gln1150His) c.1014G>C c.3075G>C (p.Gln1025His) n.1990G>C n.1092G>C c.5208G>C (p.Gln1736His) c.5250G>C (p.Gln1750His) c.5229G>C (p.Gln1743His) c.5223G>C (p.Gln1741His) c.5202G>C (p.Gln1734His) c.4113G>C (p.Gln1371His) c.5211G>C (p.Gln1737His) n.1093G>C
11	g.70473181C>T	CA475471197	SHANK2	c.3471G>A (p.Gln1157=) c.1016G>A (n.1016G>A) c.5238G>A (p.Gln1746=) c.2747G>A c.4101G>A (p.Gln1367=) c.3528G>A (p.Gln1176=) c.3474G>A (p.Gln1158=) c.242G>A (n.242G>A) c.3450G>A (p.Gln1150=) c.1014G>A c.3075G>A (p.Gln1025=) n.1990G>A n.1092G>A c.5208G>A (p.Gln1736=) c.5250G>A (p.Gln1750=) c.5229G>A (p.Gln1743=) c.5223G>A (p.Gln1741=) c.5202G>A (p.Gln1734=) c.4113G>A (p.Gln1371=) c.5211G>A (p.Gln1737=) n.1093G>A	dbSNP
11	g.70473182T>A	CA381676009	SHANK2	c.3470A>T (p.Gln1157Leu) c.1015A>T (n.1015A>T) c.5237A>T (p.Gln1746Leu) c.2746A>T c.4100A>T (p.Gln1367Leu) c.3527A>T (p.Gln1176Leu) c.3473A>T (p.Gln1158Leu) c.241A>T (n.241A>T) c.3449A>T (p.Gln1150Leu) c.1013A>T c.3074A>T (p.Gln1025Leu) n.1989A>T n.1091A>T c.5207A>T (p.Gln1736Leu) c.5249A>T (p.Gln1750Leu) c.5228A>T (p.Gln1743Leu) c.5222A>T (p.Gln1741Leu) c.5201A>T (p.Gln1734Leu) c.4112A>T (p.Gln1371Leu) c.5210A>T (p.Gln1737Leu) n.1092A>T
11	g.70473182T>C	CA6160740	SHANK2	c.3470A>G (p.Gln1157Arg) c.1015A>G (n.1015A>G) c.5237A>G (p.Gln1746Arg) c.2746A>G c.4100A>G (p.Gln1367Arg) c.3527A>G (p.Gln1176Arg) c.3473A>G (p.Gln1158Arg) c.241A>G (n.241A>G) c.3449A>G (p.Gln1150Arg) c.1013A>G c.3074A>G (p.Gln1025Arg) n.1989A>G n.1091A>G c.5207A>G (p.Gln1736Arg) c.5249A>G (p.Gln1750Arg) c.5228A>G (p.Gln1743Arg) c.5222A>G (p.Gln1741Arg) c.5201A>G (p.Gln1734Arg) c.4112A>G (p.Gln1371Arg) c.5210A>G (p.Gln1737Arg) n.1092A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.70473182T>G	CA381676012	SHANK2	c.3470A>C (p.Gln1157Pro) c.1015A>C (n.1015A>C) c.5237A>C (p.Gln1746Pro) c.2746A>C c.4100A>C (p.Gln1367Pro) c.3527A>C (p.Gln1176Pro) c.3473A>C (p.Gln1158Pro) c.241A>C (n.241A>C) c.3449A>C (p.Gln1150Pro) c.1013A>C c.3074A>C (p.Gln1025Pro) n.1989A>C n.1091A>C c.5207A>C (p.Gln1736Pro) c.5249A>C (p.Gln1750Pro) c.5228A>C (p.Gln1743Pro) c.5222A>C (p.Gln1741Pro) c.5201A>C (p.Gln1734Pro) c.4112A>C (p.Gln1371Pro) c.5210A>C (p.Gln1737Pro) n.1092A>C
11	g.70473182T=	CA1981067940	SHANK2	c.3470A= (p.Gln1157=) c.1015A= (n.1015A=) c.5237A= (p.Gln1746=) c.2746A= c.4100A= (p.Gln1367=) c.3527A= (p.Gln1176=) c.3473A= (p.Gln1158=) c.241A= (n.241A=) c.3449A= (p.Gln1150=) c.1013A= c.3074A= (p.Gln1025=) n.1989A= n.1091A= c.5207A= (p.Gln1736=) c.5249A= (p.Gln1750=) c.5228A= (p.Gln1743=) c.5222A= (p.Gln1741=) c.5201A= (p.Gln1734=) c.4112A= (p.Gln1371=) c.5210A= (p.Gln1737=) n.1092A=
11	g.70473183G>A	CA381676014	SHANK2	c.3469C>T (p.Gln1157Ter) c.1014C>T (n.1014C>T) c.5236C>T (p.Gln1746Ter) c.2745C>T c.4099C>T (p.Gln1367Ter) c.3526C>T (p.Gln1176Ter) c.3472C>T (p.Gln1158Ter) c.240C>T (n.240C>T) c.3448C>T (p.Gln1150Ter) c.1012C>T c.3073C>T (p.Gln1025Ter) n.1988C>T n.1090C>T c.5206C>T (p.Gln1736Ter) c.5248C>T (p.Gln1750Ter) c.5227C>T (p.Gln1743Ter) c.5221C>T (p.Gln1741Ter) c.5200C>T (p.Gln1734Ter) c.4111C>T (p.Gln1371Ter) c.5209C>T (p.Gln1737Ter) n.1091C>T
11	g.70473183G>C	CA381676015	SHANK2	c.3469C>G (p.Gln1157Glu) c.1014C>G (n.1014C>G) c.5236C>G (p.Gln1746Glu) c.2745C>G c.4099C>G (p.Gln1367Glu) c.3526C>G (p.Gln1176Glu) c.3472C>G (p.Gln1158Glu) c.240C>G (n.240C>G) c.3448C>G (p.Gln1150Glu) c.1012C>G c.3073C>G (p.Gln1025Glu) n.1988C>G n.1090C>G c.5206C>G (p.Gln1736Glu) c.5248C>G (p.Gln1750Glu) c.5227C>G (p.Gln1743Glu) c.5221C>G (p.Gln1741Glu) c.5200C>G (p.Gln1734Glu) c.4111C>G (p.Gln1371Glu) c.5209C>G (p.Gln1737Glu) n.1091C>G
11	g.70473183G>T	CA381676017	SHANK2	c.3469C>A (p.Gln1157Lys) c.1014C>A (n.1014C>A) c.5236C>A (p.Gln1746Lys) c.2745C>A c.4099C>A (p.Gln1367Lys) c.3526C>A (p.Gln1176Lys) c.3472C>A (p.Gln1158Lys) c.240C>A (n.240C>A) c.3448C>A (p.Gln1150Lys) c.1012C>A c.3073C>A (p.Gln1025Lys) n.1988C>A n.1090C>A c.5206C>A (p.Gln1736Lys) c.5248C>A (p.Gln1750Lys) c.5227C>A (p.Gln1743Lys) c.5221C>A (p.Gln1741Lys) c.5200C>A (p.Gln1734Lys) c.4111C>A (p.Gln1371Lys) c.5209C>A (p.Gln1737Lys) n.1091C>A
11	g.70473184G>A	CA475471198	SHANK2	c.3468C>T (p.Ser1156=) c.1013C>T (n.1013C>T) c.5235C>T (p.Ser1745=) c.2744C>T c.4098C>T (p.Ser1366=) c.3525C>T (p.Ser1175=) c.3471C>T (p.Ser1157=) c.239C>T (n.239C>T) c.3447C>T (p.Ser1149=) c.1011C>T c.3072C>T (p.Ser1024=) n.1987C>T n.1089C>T c.5205C>T (p.Ser1735=) c.5247C>T (p.Ser1749=) c.5226C>T (p.Ser1742=) c.5220C>T (p.Ser1740=) c.5199C>T (p.Ser1733=) c.4110C>T (p.Ser1370=) c.5208C>T (p.Ser1736=) n.1090C>T
11	g.70473184G>C	CA381676023	SHANK2	c.3468C>G (p.Ser1156Arg) c.1013C>G (n.1013C>G) c.5235C>G (p.Ser1745Arg) c.2744C>G c.4098C>G (p.Ser1366Arg) c.3525C>G (p.Ser1175Arg) c.3471C>G (p.Ser1157Arg) c.239C>G (n.239C>G) c.3447C>G (p.Ser1149Arg) c.1011C>G c.3072C>G (p.Ser1024Arg) n.1987C>G n.1089C>G c.5205C>G (p.Ser1735Arg) c.5247C>G (p.Ser1749Arg) c.5226C>G (p.Ser1742Arg) c.5220C>G (p.Ser1740Arg) c.5199C>G (p.Ser1733Arg) c.4110C>G (p.Ser1370Arg) c.5208C>G (p.Ser1736Arg) n.1090C>G
11	g.70473184G>T	CA381676019	SHANK2	c.3468C>A (p.Ser1156Arg) c.1013C>A (n.1013C>A) c.5235C>A (p.Ser1745Arg) c.2744C>A c.4098C>A (p.Ser1366Arg) c.3525C>A (p.Ser1175Arg) c.3471C>A (p.Ser1157Arg) c.239C>A (n.239C>A) c.3447C>A (p.Ser1149Arg) c.1011C>A c.3072C>A (p.Ser1024Arg) n.1987C>A n.1089C>A c.5205C>A (p.Ser1735Arg) c.5247C>A (p.Ser1749Arg) c.5226C>A (p.Ser1742Arg) c.5220C>A (p.Ser1740Arg) c.5199C>A (p.Ser1733Arg) c.4110C>A (p.Ser1370Arg) c.5208C>A (p.Ser1736Arg) n.1090C>A
11	g.70473185C>A	CA381676025	SHANK2	c.3467G>T (p.Ser1156Ile) c.1012G>T (n.1012G>T) c.5234G>T (p.Ser1745Ile) c.2743G>T c.4097G>T (p.Ser1366Ile) c.3524G>T (p.Ser1175Ile) c.3470G>T (p.Ser1157Ile) c.238G>T (n.238G>T) c.3446G>T (p.Ser1149Ile) c.1010G>T c.3071G>T (p.Ser1024Ile) n.1986G>T n.1088G>T c.5204G>T (p.Ser1735Ile) c.5246G>T (p.Ser1749Ile) c.5225G>T (p.Ser1742Ile) c.5219G>T (p.Ser1740Ile) c.5198G>T (p.Ser1733Ile) c.4109G>T (p.Ser1370Ile) c.5207G>T (p.Ser1736Ile) n.1089G>T
11	g.70473185C>G	CA381676028	SHANK2	c.3467G>C (p.Ser1156Thr) c.1012G>C (n.1012G>C) c.5234G>C (p.Ser1745Thr) c.2743G>C c.4097G>C (p.Ser1366Thr) c.3524G>C (p.Ser1175Thr) c.3470G>C (p.Ser1157Thr) c.238G>C (n.238G>C) c.3446G>C (p.Ser1149Thr) c.1010G>C c.3071G>C (p.Ser1024Thr) n.1986G>C n.1088G>C c.5204G>C (p.Ser1735Thr) c.5246G>C (p.Ser1749Thr) c.5225G>C (p.Ser1742Thr) c.5219G>C (p.Ser1740Thr) c.5198G>C (p.Ser1733Thr) c.4109G>C (p.Ser1370Thr) c.5207G>C (p.Ser1736Thr) n.1089G>C
11	g.70473185C>T	CA381676029	SHANK2	c.3467G>A (p.Ser1156Asn) c.1012G>A (n.1012G>A) c.5234G>A (p.Ser1745Asn) c.2743G>A c.4097G>A (p.Ser1366Asn) c.3524G>A (p.Ser1175Asn) c.3470G>A (p.Ser1157Asn) c.238G>A (n.238G>A) c.3446G>A (p.Ser1149Asn) c.1010G>A c.3071G>A (p.Ser1024Asn) n.1986G>A n.1088G>A c.5204G>A (p.Ser1735Asn) c.5246G>A (p.Ser1749Asn) c.5225G>A (p.Ser1742Asn) c.5219G>A (p.Ser1740Asn) c.5198G>A (p.Ser1733Asn) c.4109G>A (p.Ser1370Asn) c.5207G>A (p.Ser1736Asn) n.1089G>A
11	g.70473186T>A	CA381676031	SHANK2	c.3466A>T (p.Ser1156Cys) c.1011A>T (n.1011A>T) c.5233A>T (p.Ser1745Cys) c.2742A>T c.4096A>T (p.Ser1366Cys) c.3523A>T (p.Ser1175Cys) c.3469A>T (p.Ser1157Cys) c.237A>T (n.237A>T) c.3445A>T (p.Ser1149Cys) c.1009A>T c.3070A>T (p.Ser1024Cys) n.1985A>T n.1087A>T c.5203A>T (p.Ser1735Cys) c.5245A>T (p.Ser1749Cys) c.5224A>T (p.Ser1742Cys) c.5218A>T (p.Ser1740Cys) c.5197A>T (p.Ser1733Cys) c.4108A>T (p.Ser1370Cys) c.5206A>T (p.Ser1736Cys) n.1088A>T
11	g.70473186T>C	CA381676032	SHANK2	c.3466A>G (p.Ser1156Gly) c.1011A>G (n.1011A>G) c.5233A>G (p.Ser1745Gly) c.2742A>G c.4096A>G (p.Ser1366Gly) c.3523A>G (p.Ser1175Gly) c.3469A>G (p.Ser1157Gly) c.237A>G (n.237A>G) c.3445A>G (p.Ser1149Gly) c.1009A>G c.3070A>G (p.Ser1024Gly) n.1985A>G n.1087A>G c.5203A>G (p.Ser1735Gly) c.5245A>G (p.Ser1749Gly) c.5224A>G (p.Ser1742Gly) c.5218A>G (p.Ser1740Gly) c.5197A>G (p.Ser1733Gly) c.4108A>G (p.Ser1370Gly) c.5206A>G (p.Ser1736Gly) n.1088A>G
11	g.70473186T>G	CA381676034	SHANK2	c.3466A>C (p.Ser1156Arg) c.1011A>C (n.1011A>C) c.5233A>C (p.Ser1745Arg) c.2742A>C c.4096A>C (p.Ser1366Arg) c.3523A>C (p.Ser1175Arg) c.3469A>C (p.Ser1157Arg) c.237A>C (n.237A>C) c.3445A>C (p.Ser1149Arg) c.1009A>C c.3070A>C (p.Ser1024Arg) n.1985A>C n.1087A>C c.5203A>C (p.Ser1735Arg) c.5245A>C (p.Ser1749Arg) c.5224A>C (p.Ser1742Arg) c.5218A>C (p.Ser1740Arg) c.5197A>C (p.Ser1733Arg) c.4108A>C (p.Ser1370Arg) c.5206A>C (p.Ser1736Arg) n.1088A>C	gnomAD v4
11	g.70473187T>A	CA475471202	SHANK2	c.3465A>T (p.Pro1155=) c.1010A>T (n.1010A>T) c.5232A>T (p.Pro1744=) c.2741A>T c.4095A>T (p.Pro1365=) c.3522A>T (p.Pro1174=) c.3468A>T (p.Pro1156=) c.236A>T (n.236A>T) c.3444A>T (p.Pro1148=) c.1008A>T c.3069A>T (p.Pro1023=) n.1984A>T n.1086A>T c.5202A>T (p.Pro1734=) c.5244A>T (p.Pro1748=) c.5223A>T (p.Pro1741=) c.5217A>T (p.Pro1739=) c.5196A>T (p.Pro1732=) c.4107A>T (p.Pro1369=) c.5205A>T (p.Pro1735=) n.1087A>T
11	g.70473187T>C	CA475471201	SHANK2	c.3465A>G (p.Pro1155=) c.1010A>G (n.1010A>G) c.5232A>G (p.Pro1744=) c.2741A>G c.4095A>G (p.Pro1365=) c.3522A>G (p.Pro1174=) c.3468A>G (p.Pro1156=) c.236A>G (n.236A>G) c.3444A>G (p.Pro1148=) c.1008A>G c.3069A>G (p.Pro1023=) n.1984A>G n.1086A>G c.5202A>G (p.Pro1734=) c.5244A>G (p.Pro1748=) c.5223A>G (p.Pro1741=) c.5217A>G (p.Pro1739=) c.5196A>G (p.Pro1732=) c.4107A>G (p.Pro1369=) c.5205A>G (p.Pro1735=) n.1087A>G
11	g.70473187T>G	CA475471199	SHANK2	c.3465A>C (p.Pro1155=) c.1010A>C (n.1010A>C) c.5232A>C (p.Pro1744=) c.2741A>C c.4095A>C (p.Pro1365=) c.3522A>C (p.Pro1174=) c.3468A>C (p.Pro1156=) c.236A>C (n.236A>C) c.3444A>C (p.Pro1148=) c.1008A>C c.3069A>C (p.Pro1023=) n.1984A>C n.1086A>C c.5202A>C (p.Pro1734=) c.5244A>C (p.Pro1748=) c.5223A>C (p.Pro1741=) c.5217A>C (p.Pro1739=) c.5196A>C (p.Pro1732=) c.4107A>C (p.Pro1369=) c.5205A>C (p.Pro1735=) n.1087A>C
11	g.70473187_70473188delinsAA	CA645583696	SHANK2	c.3464_3465delinsTT (p.Pro1155Leu) c.1009_1010delinsTT (n.1009_1010delinsTT) c.5231_5232delinsTT (p.Pro1744Leu) c.2740_2741delinsTT c.4094_4095delinsTT (p.Pro1365Leu) c.3521_3522delinsTT (p.Pro1174Leu) c.3467_3468delinsTT (p.Pro1156Leu) c.235_236delinsTT (n.235_236delinsTT) c.3443_3444delinsTT (p.Pro1148Leu) c.1007_1008delinsTT c.3068_3069delinsTT (p.Pro1023Leu) n.1983_1984delinsTT n.1085_1086delinsTT c.5201_5202delinsTT (p.Pro1734Leu) c.5243_5244delinsTT (p.Pro1748Leu) c.5222_5223delinsTT (p.Pro1741Leu) c.5216_5217delinsTT (p.Pro1739Leu) c.5195_5196delinsTT (p.Pro1732Leu) c.4106_4107delinsTT (p.Pro1369Leu) c.5204_5205delinsTT (p.Pro1735Leu) n.1086_1087delinsTT	COSMIC COSMIC COSMIC
11	g.70473188G>A	CA381676037	SHANK2	c.3464C>T (p.Pro1155Leu) c.1009C>T (n.1009C>T) c.5231C>T (p.Pro1744Leu) c.2740C>T c.4094C>T (p.Pro1365Leu) c.3521C>T (p.Pro1174Leu) c.3467C>T (p.Pro1156Leu) c.235C>T (n.235C>T) c.3443C>T (p.Pro1148Leu) c.1007C>T c.3068C>T (p.Pro1023Leu) n.1983C>T n.1085C>T c.5201C>T (p.Pro1734Leu) c.5243C>T (p.Pro1748Leu) c.5222C>T (p.Pro1741Leu) c.5216C>T (p.Pro1739Leu) c.5195C>T (p.Pro1732Leu) c.4106C>T (p.Pro1369Leu) c.5204C>T (p.Pro1735Leu) n.1086C>T	dbSNP
11	g.70473188G>C	CA381676041	SHANK2	c.3464C>G (p.Pro1155Arg) c.1009C>G (n.1009C>G) c.5231C>G (p.Pro1744Arg) c.2740C>G c.4094C>G (p.Pro1365Arg) c.3521C>G (p.Pro1174Arg) c.3467C>G (p.Pro1156Arg) c.235C>G (n.235C>G) c.3443C>G (p.Pro1148Arg) c.1007C>G c.3068C>G (p.Pro1023Arg) n.1983C>G n.1085C>G c.5201C>G (p.Pro1734Arg) c.5243C>G (p.Pro1748Arg) c.5222C>G (p.Pro1741Arg) c.5216C>G (p.Pro1739Arg) c.5195C>G (p.Pro1732Arg) c.4106C>G (p.Pro1369Arg) c.5204C>G (p.Pro1735Arg) n.1086C>G
11	g.70473188G=	CA1981067941	SHANK2	c.3464C= (p.Pro1155=) c.1009C= (n.1009C=) c.5231C= (p.Pro1744=) c.2740C= c.4094C= (p.Pro1365=) c.3521C= (p.Pro1174=) c.3467C= (p.Pro1156=) c.235C= (n.235C=) c.3443C= (p.Pro1148=) c.1007C= c.3068C= (p.Pro1023=) n.1983C= n.1085C= c.5201C= (p.Pro1734=) c.5243C= (p.Pro1748=) c.5222C= (p.Pro1741=) c.5216C= (p.Pro1739=) c.5195C= (p.Pro1732=) c.4106C= (p.Pro1369=) c.5204C= (p.Pro1735=) n.1086C=
11	g.70473188G>T	CA381676039	SHANK2	c.3464C>A (p.Pro1155Gln) c.1009C>A (n.1009C>A) c.5231C>A (p.Pro1744Gln) c.2740C>A c.4094C>A (p.Pro1365Gln) c.3521C>A (p.Pro1174Gln) c.3467C>A (p.Pro1156Gln) c.235C>A (n.235C>A) c.3443C>A (p.Pro1148Gln) c.1007C>A c.3068C>A (p.Pro1023Gln) n.1983C>A n.1085C>A c.5201C>A (p.Pro1734Gln) c.5243C>A (p.Pro1748Gln) c.5222C>A (p.Pro1741Gln) c.5216C>A (p.Pro1739Gln) c.5195C>A (p.Pro1732Gln) c.4106C>A (p.Pro1369Gln) c.5204C>A (p.Pro1735Gln) n.1086C>A
11	g.70473189G>A	CA381676043	SHANK2	c.3463C>T (p.Pro1155Ser) c.1008C>T (n.1008C>T) c.5230C>T (p.Pro1744Ser) c.2739C>T c.4093C>T (p.Pro1365Ser) c.3520C>T (p.Pro1174Ser) c.3466C>T (p.Pro1156Ser) c.234C>T (n.234C>T) c.3442C>T (p.Pro1148Ser) c.1006C>T c.3067C>T (p.Pro1023Ser) n.1982C>T n.1084C>T c.5200C>T (p.Pro1734Ser) c.5242C>T (p.Pro1748Ser) c.5221C>T (p.Pro1741Ser) c.5215C>T (p.Pro1739Ser) c.5194C>T (p.Pro1732Ser) c.4105C>T (p.Pro1369Ser) c.5203C>T (p.Pro1735Ser) n.1085C>T
11	g.70473189G>C	CA381676044	SHANK2	c.3463C>G (p.Pro1155Ala) c.1008C>G (n.1008C>G) c.5230C>G (p.Pro1744Ala) c.2739C>G c.4093C>G (p.Pro1365Ala) c.3520C>G (p.Pro1174Ala) c.3466C>G (p.Pro1156Ala) c.234C>G (n.234C>G) c.3442C>G (p.Pro1148Ala) c.1006C>G c.3067C>G (p.Pro1023Ala) n.1982C>G n.1084C>G c.5200C>G (p.Pro1734Ala) c.5242C>G (p.Pro1748Ala) c.5221C>G (p.Pro1741Ala) c.5215C>G (p.Pro1739Ala) c.5194C>G (p.Pro1732Ala) c.4105C>G (p.Pro1369Ala) c.5203C>G (p.Pro1735Ala) n.1085C>G
11	g.70473189G>T	CA381676045	SHANK2	c.3463C>A (p.Pro1155Thr) c.1008C>A (n.1008C>A) c.5230C>A (p.Pro1744Thr) c.2739C>A c.4093C>A (p.Pro1365Thr) c.3520C>A (p.Pro1174Thr) c.3466C>A (p.Pro1156Thr) c.234C>A (n.234C>A) c.3442C>A (p.Pro1148Thr) c.1006C>A c.3067C>A (p.Pro1023Thr) n.1982C>A n.1084C>A c.5200C>A (p.Pro1734Thr) c.5242C>A (p.Pro1748Thr) c.5221C>A (p.Pro1741Thr) c.5215C>A (p.Pro1739Thr) c.5194C>A (p.Pro1732Thr) c.4105C>A (p.Pro1369Thr) c.5203C>A (p.Pro1735Thr) n.1085C>A
11	g.70473190A>C	CA475471206	SHANK2	c.3462T>G (p.Leu1154=) c.1007T>G (n.1007T>G) c.5229T>G (p.Leu1743=) c.2738T>G c.4092T>G (p.Leu1364=) c.3519T>G (p.Leu1173=) c.3465T>G (p.Leu1155=) c.233T>G (n.233T>G) c.3441T>G (p.Leu1147=) c.1005T>G c.3066T>G (p.Leu1022=) n.1981T>G n.1083T>G c.5199T>G (p.Leu1733=) c.5241T>G (p.Leu1747=) c.5220T>G (p.Leu1740=) c.5214T>G (p.Leu1738=) c.5193T>G (p.Leu1731=) c.4104T>G (p.Leu1368=) c.5202T>G (p.Leu1734=) n.1084T>G
11	g.70473190A>G	CA475471208	SHANK2	c.3462T>C (p.Leu1154=) c.1007T>C (n.1007T>C) c.5229T>C (p.Leu1743=) c.2738T>C c.4092T>C (p.Leu1364=) c.3519T>C (p.Leu1173=) c.3465T>C (p.Leu1155=) c.233T>C (n.233T>C) c.3441T>C (p.Leu1147=) c.1005T>C c.3066T>C (p.Leu1022=) n.1981T>C n.1083T>C c.5199T>C (p.Leu1733=) c.5241T>C (p.Leu1747=) c.5220T>C (p.Leu1740=) c.5214T>C (p.Leu1738=) c.5193T>C (p.Leu1731=) c.4104T>C (p.Leu1368=) c.5202T>C (p.Leu1734=) n.1084T>C
11	g.70473190A>T	CA475471207	SHANK2	c.3462T>A (p.Leu1154=) c.1007T>A (n.1007T>A) c.5229T>A (p.Leu1743=) c.2738T>A c.4092T>A (p.Leu1364=) c.3519T>A (p.Leu1173=) c.3465T>A (p.Leu1155=) c.233T>A (n.233T>A) c.3441T>A (p.Leu1147=) c.1005T>A c.3066T>A (p.Leu1022=) n.1981T>A n.1083T>A c.5199T>A (p.Leu1733=) c.5241T>A (p.Leu1747=) c.5220T>A (p.Leu1740=) c.5214T>A (p.Leu1738=) c.5193T>A (p.Leu1731=) c.4104T>A (p.Leu1368=) c.5202T>A (p.Leu1734=) n.1084T>A
11	g.70473191A>C	CA381676046	SHANK2	c.3461T>G (p.Leu1154Arg) c.1006T>G (n.1006T>G) c.5228T>G (p.Leu1743Arg) c.2737T>G c.4091T>G (p.Leu1364Arg) c.3518T>G (p.Leu1173Arg) c.3464T>G (p.Leu1155Arg) c.232T>G (n.232T>G) c.3440T>G (p.Leu1147Arg) c.1004T>G c.3065T>G (p.Leu1022Arg) n.1980T>G n.1082T>G c.5198T>G (p.Leu1733Arg) c.5240T>G (p.Leu1747Arg) c.5219T>G (p.Leu1740Arg) c.5213T>G (p.Leu1738Arg) c.5192T>G (p.Leu1731Arg) c.4103T>G (p.Leu1368Arg) c.5201T>G (p.Leu1734Arg) n.1083T>G
11	g.70473191A>G	CA381676047	SHANK2	c.3461T>C (p.Leu1154Pro) c.1006T>C (n.1006T>C) c.5228T>C (p.Leu1743Pro) c.2737T>C c.4091T>C (p.Leu1364Pro) c.3518T>C (p.Leu1173Pro) c.3464T>C (p.Leu1155Pro) c.232T>C (n.232T>C) c.3440T>C (p.Leu1147Pro) c.1004T>C c.3065T>C (p.Leu1022Pro) n.1980T>C n.1082T>C c.5198T>C (p.Leu1733Pro) c.5240T>C (p.Leu1747Pro) c.5219T>C (p.Leu1740Pro) c.5213T>C (p.Leu1738Pro) c.5192T>C (p.Leu1731Pro) c.4103T>C (p.Leu1368Pro) c.5201T>C (p.Leu1734Pro) n.1083T>C
11	g.70473191A>T	CA381676048	SHANK2	c.3461T>A (p.Leu1154His) c.1006T>A (n.1006T>A) c.5228T>A (p.Leu1743His) c.2737T>A c.4091T>A (p.Leu1364His) c.3518T>A (p.Leu1173His) c.3464T>A (p.Leu1155His) c.232T>A (n.232T>A) c.3440T>A (p.Leu1147His) c.1004T>A c.3065T>A (p.Leu1022His) n.1980T>A n.1082T>A c.5198T>A (p.Leu1733His) c.5240T>A (p.Leu1747His) c.5219T>A (p.Leu1740His) c.5213T>A (p.Leu1738His) c.5192T>A (p.Leu1731His) c.4103T>A (p.Leu1368His) c.5201T>A (p.Leu1734His) n.1083T>A
11	g.70473192G>A	CA381676055	SHANK2	c.3460C>T (p.Leu1154Phe) c.1005C>T (n.1005C>T) c.5227C>T (p.Leu1743Phe) c.2736C>T c.4090C>T (p.Leu1364Phe) c.3517C>T (p.Leu1173Phe) c.3463C>T (p.Leu1155Phe) c.231C>T (n.231C>T) c.3439C>T (p.Leu1147Phe) c.1003C>T c.3064C>T (p.Leu1022Phe) n.1979C>T n.1081C>T c.5197C>T (p.Leu1733Phe) c.5239C>T (p.Leu1747Phe) c.5218C>T (p.Leu1740Phe) c.5212C>T (p.Leu1738Phe) c.5191C>T (p.Leu1731Phe) c.4102C>T (p.Leu1368Phe) c.5200C>T (p.Leu1734Phe) n.1082C>T
11	g.70473192G>C	CA381676056	SHANK2	c.3460C>G (p.Leu1154Val) c.1005C>G (n.1005C>G) c.5227C>G (p.Leu1743Val) c.2736C>G c.4090C>G (p.Leu1364Val) c.3517C>G (p.Leu1173Val) c.3463C>G (p.Leu1155Val) c.231C>G (n.231C>G) c.3439C>G (p.Leu1147Val) c.1003C>G c.3064C>G (p.Leu1022Val) n.1979C>G n.1081C>G c.5197C>G (p.Leu1733Val) c.5239C>G (p.Leu1747Val) c.5218C>G (p.Leu1740Val) c.5212C>G (p.Leu1738Val) c.5191C>G (p.Leu1731Val) c.4102C>G (p.Leu1368Val) c.5200C>G (p.Leu1734Val) n.1082C>G
11	g.70473192G>T	CA381676058	SHANK2	c.3460C>A (p.Leu1154Ile) c.1005C>A (n.1005C>A) c.5227C>A (p.Leu1743Ile) c.2736C>A c.4090C>A (p.Leu1364Ile) c.3517C>A (p.Leu1173Ile) c.3463C>A (p.Leu1155Ile) c.231C>A (n.231C>A) c.3439C>A (p.Leu1147Ile) c.1003C>A c.3064C>A (p.Leu1022Ile) n.1979C>A n.1081C>A c.5197C>A (p.Leu1733Ile) c.5239C>A (p.Leu1747Ile) c.5218C>A (p.Leu1740Ile) c.5212C>A (p.Leu1738Ile) c.5191C>A (p.Leu1731Ile) c.4102C>A (p.Leu1368Ile) c.5200C>A (p.Leu1734Ile) n.1082C>A
11	g.70473193G>A	CA475471212	SHANK2	c.3459C>T (p.Ser1153=) c.1004C>T (n.1004C>T) c.5226C>T (p.Ser1742=) c.2735C>T c.4089C>T (p.Ser1363=) c.3516C>T (p.Ser1172=) c.3462C>T (p.Ser1154=) c.230C>T (n.230C>T) c.3438C>T (p.Ser1146=) c.1002C>T c.3063C>T (p.Ser1021=) n.1978C>T n.1080C>T c.5196C>T (p.Ser1732=) c.5238C>T (p.Ser1746=) c.5217C>T (p.Ser1739=) c.5211C>T (p.Ser1737=) c.5190C>T (p.Ser1730=) c.4101C>T (p.Ser1367=) c.5199C>T (p.Ser1733=) n.1081C>T	gnomAD v4
11	g.70473193G>C	CA381676062	SHANK2	c.3459C>G (p.Ser1153Arg) c.1004C>G (n.1004C>G) c.5226C>G (p.Ser1742Arg) c.2735C>G c.4089C>G (p.Ser1363Arg) c.3516C>G (p.Ser1172Arg) c.3462C>G (p.Ser1154Arg) c.230C>G (n.230C>G) c.3438C>G (p.Ser1146Arg) c.1002C>G c.3063C>G (p.Ser1021Arg) n.1978C>G n.1080C>G c.5196C>G (p.Ser1732Arg) c.5238C>G (p.Ser1746Arg) c.5217C>G (p.Ser1739Arg) c.5211C>G (p.Ser1737Arg) c.5190C>G (p.Ser1730Arg) c.4101C>G (p.Ser1367Arg) c.5199C>G (p.Ser1733Arg) n.1081C>G
11	g.70473193G>T	CA381676063	SHANK2	c.3459C>A (p.Ser1153Arg) c.1004C>A (n.1004C>A) c.5226C>A (p.Ser1742Arg) c.2735C>A c.4089C>A (p.Ser1363Arg) c.3516C>A (p.Ser1172Arg) c.3462C>A (p.Ser1154Arg) c.230C>A (n.230C>A) c.3438C>A (p.Ser1146Arg) c.1002C>A c.3063C>A (p.Ser1021Arg) n.1978C>A n.1080C>A c.5196C>A (p.Ser1732Arg) c.5238C>A (p.Ser1746Arg) c.5217C>A (p.Ser1739Arg) c.5211C>A (p.Ser1737Arg) c.5190C>A (p.Ser1730Arg) c.4101C>A (p.Ser1367Arg) c.5199C>A (p.Ser1733Arg) n.1081C>A
11	g.70473194C>A	CA381676069	SHANK2	c.3458G>T (p.Ser1153Ile) c.1003G>T (n.1003G>T) c.5225G>T (p.Ser1742Ile) c.2734G>T c.4088G>T (p.Ser1363Ile) c.3515G>T (p.Ser1172Ile) c.3461G>T (p.Ser1154Ile) c.229G>T (n.229G>T) c.3437G>T (p.Ser1146Ile) c.1001G>T c.3062G>T (p.Ser1021Ile) n.1977G>T n.1079G>T c.5195G>T (p.Ser1732Ile) c.5237G>T (p.Ser1746Ile) c.5216G>T (p.Ser1739Ile) c.5210G>T (p.Ser1737Ile) c.5189G>T (p.Ser1730Ile) c.4100G>T (p.Ser1367Ile) c.5198G>T (p.Ser1733Ile) n.1080G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.70473194C=	CA1981067942	SHANK2	c.3458G= (p.Ser1153=) c.1003G= (n.1003G=) c.5225G= (p.Ser1742=) c.2734G= c.4088G= (p.Ser1363=) c.3515G= (p.Ser1172=) c.3461G= (p.Ser1154=) c.229G= (n.229G=) c.3437G= (p.Ser1146=) c.1001G= c.3062G= (p.Ser1021=) n.1977G= n.1079G= c.5195G= (p.Ser1732=) c.5237G= (p.Ser1746=) c.5216G= (p.Ser1739=) c.5210G= (p.Ser1737=) c.5189G= (p.Ser1730=) c.4100G= (p.Ser1367=) c.5198G= (p.Ser1733=) n.1080G=
11	g.70473194C>G	CA381676072	SHANK2	c.3458G>C (p.Ser1153Thr) c.1003G>C (n.1003G>C) c.5225G>C (p.Ser1742Thr) c.2734G>C c.4088G>C (p.Ser1363Thr) c.3515G>C (p.Ser1172Thr) c.3461G>C (p.Ser1154Thr) c.229G>C (n.229G>C) c.3437G>C (p.Ser1146Thr) c.1001G>C c.3062G>C (p.Ser1021Thr) n.1977G>C n.1079G>C c.5195G>C (p.Ser1732Thr) c.5237G>C (p.Ser1746Thr) c.5216G>C (p.Ser1739Thr) c.5210G>C (p.Ser1737Thr) c.5189G>C (p.Ser1730Thr) c.4100G>C (p.Ser1367Thr) c.5198G>C (p.Ser1733Thr) n.1080G>C
11	g.70473194C>T	CA381676066	SHANK2	c.3458G>A (p.Ser1153Asn) c.1003G>A (n.1003G>A) c.5225G>A (p.Ser1742Asn) c.2734G>A c.4088G>A (p.Ser1363Asn) c.3515G>A (p.Ser1172Asn) c.3461G>A (p.Ser1154Asn) c.229G>A (n.229G>A) c.3437G>A (p.Ser1146Asn) c.1001G>A c.3062G>A (p.Ser1021Asn) n.1977G>A n.1079G>A c.5195G>A (p.Ser1732Asn) c.5237G>A (p.Ser1746Asn) c.5216G>A (p.Ser1739Asn) c.5210G>A (p.Ser1737Asn) c.5189G>A (p.Ser1730Asn) c.4100G>A (p.Ser1367Asn) c.5198G>A (p.Ser1733Asn) n.1080G>A
11	g.70473195T>A	CA381676079	SHANK2	c.3457A>T (p.Ser1153Cys) c.1002A>T (n.1002A>T) c.5224A>T (p.Ser1742Cys) c.2733A>T c.4087A>T (p.Ser1363Cys) c.3514A>T (p.Ser1172Cys) c.3460A>T (p.Ser1154Cys) c.228A>T (n.228A>T) c.3436A>T (p.Ser1146Cys) c.1000A>T c.3061A>T (p.Ser1021Cys) n.1976A>T n.1078A>T c.5194A>T (p.Ser1732Cys) c.5236A>T (p.Ser1746Cys) c.5215A>T (p.Ser1739Cys) c.5209A>T (p.Ser1737Cys) c.5188A>T (p.Ser1730Cys) c.4099A>T (p.Ser1367Cys) c.5197A>T (p.Ser1733Cys) n.1079A>T
11	g.70473195T>C	CA381676075	SHANK2	c.3457A>G (p.Ser1153Gly) c.1002A>G (n.1002A>G) c.5224A>G (p.Ser1742Gly) c.2733A>G c.4087A>G (p.Ser1363Gly) c.3514A>G (p.Ser1172Gly) c.3460A>G (p.Ser1154Gly) c.228A>G (n.228A>G) c.3436A>G (p.Ser1146Gly) c.1000A>G c.3061A>G (p.Ser1021Gly) n.1976A>G n.1078A>G c.5194A>G (p.Ser1732Gly) c.5236A>G (p.Ser1746Gly) c.5215A>G (p.Ser1739Gly) c.5209A>G (p.Ser1737Gly) c.5188A>G (p.Ser1730Gly) c.4099A>G (p.Ser1367Gly) c.5197A>G (p.Ser1733Gly) n.1079A>G
11	g.70473195T>G	CA381676081	SHANK2	c.3457A>C (p.Ser1153Arg) c.1002A>C (n.1002A>C) c.5224A>C (p.Ser1742Arg) c.2733A>C c.4087A>C (p.Ser1363Arg) c.3514A>C (p.Ser1172Arg) c.3460A>C (p.Ser1154Arg) c.228A>C (n.228A>C) c.3436A>C (p.Ser1146Arg) c.1000A>C c.3061A>C (p.Ser1021Arg) n.1976A>C n.1078A>C c.5194A>C (p.Ser1732Arg) c.5236A>C (p.Ser1746Arg) c.5215A>C (p.Ser1739Arg) c.5209A>C (p.Ser1737Arg) c.5188A>C (p.Ser1730Arg) c.4099A>C (p.Ser1367Arg) c.5197A>C (p.Ser1733Arg) n.1079A>C
11	g.70473196A=	CA1981067943	SHANK2	c.3456T= (p.Phe1152=) c.1001T= (n.1001T=) c.5223T= (p.Phe1741=) c.2732T= c.4086T= (p.Phe1362=) c.3513T= (p.Phe1171=) c.3459T= (p.Phe1153=) c.227T= (n.227T=) c.3435T= (p.Phe1145=) c.999T= c.3060T= (p.Phe1020=) n.1975T= n.1077T= c.5193T= (p.Phe1731=) c.5235T= (p.Phe1745=) c.5214T= (p.Phe1738=) c.5208T= (p.Phe1736=) c.5187T= (p.Phe1729=) c.4098T= (p.Phe1366=) c.5196T= (p.Phe1732=) n.1078T=
11	g.70473196A>C	CA381676082	SHANK2	c.3456T>G (p.Phe1152Leu) c.1001T>G (n.1001T>G) c.5223T>G (p.Phe1741Leu) c.2732T>G c.4086T>G (p.Phe1362Leu) c.3513T>G (p.Phe1171Leu) c.3459T>G (p.Phe1153Leu) c.227T>G (n.227T>G) c.3435T>G (p.Phe1145Leu) c.999T>G c.3060T>G (p.Phe1020Leu) n.1975T>G n.1077T>G c.5193T>G (p.Phe1731Leu) c.5235T>G (p.Phe1745Leu) c.5214T>G (p.Phe1738Leu) c.5208T>G (p.Phe1736Leu) c.5187T>G (p.Phe1729Leu) c.4098T>G (p.Phe1366Leu) c.5196T>G (p.Phe1732Leu) n.1078T>G
11	g.70473196A>G	CA475470589	SHANK2	c.3456T>C (p.Phe1152=) c.1001T>C (n.1001T>C) c.5223T>C (p.Phe1741=) c.2732T>C c.4086T>C (p.Phe1362=) c.3513T>C (p.Phe1171=) c.3459T>C (p.Phe1153=) c.227T>C (n.227T>C) c.3435T>C (p.Phe1145=) c.999T>C c.3060T>C (p.Phe1020=) n.1975T>C n.1077T>C c.5193T>C (p.Phe1731=) c.5235T>C (p.Phe1745=) c.5214T>C (p.Phe1738=) c.5208T>C (p.Phe1736=) c.5187T>C (p.Phe1729=) c.4098T>C (p.Phe1366=) c.5196T>C (p.Phe1732=) n.1078T>C	dbSNP
11	g.70473196A>T	CA381676084	SHANK2	c.3456T>A (p.Phe1152Leu) c.1001T>A (n.1001T>A) c.5223T>A (p.Phe1741Leu) c.2732T>A c.4086T>A (p.Phe1362Leu) c.3513T>A (p.Phe1171Leu) c.3459T>A (p.Phe1153Leu) c.227T>A (n.227T>A) c.3435T>A (p.Phe1145Leu) c.999T>A c.3060T>A (p.Phe1020Leu) n.1975T>A n.1077T>A c.5193T>A (p.Phe1731Leu) c.5235T>A (p.Phe1745Leu) c.5214T>A (p.Phe1738Leu) c.5208T>A (p.Phe1736Leu) c.5187T>A (p.Phe1729Leu) c.4098T>A (p.Phe1366Leu) c.5196T>A (p.Phe1732Leu) n.1078T>A
11	g.70473197A>C	CA381676086	SHANK2	c.3455T>G (p.Phe1152Cys) c.1000T>G (n.1000T>G) c.5222T>G (p.Phe1741Cys) c.2731T>G c.4085T>G (p.Phe1362Cys) c.3512T>G (p.Phe1171Cys) c.3458T>G (p.Phe1153Cys) c.226T>G (n.226T>G) c.3434T>G (p.Phe1145Cys) c.998T>G c.3059T>G (p.Phe1020Cys) n.1974T>G n.1076T>G c.5192T>G (p.Phe1731Cys) c.5234T>G (p.Phe1745Cys) c.5213T>G (p.Phe1738Cys) c.5207T>G (p.Phe1736Cys) c.5186T>G (p.Phe1729Cys) c.4097T>G (p.Phe1366Cys) c.5195T>G (p.Phe1732Cys) n.1077T>G
11	g.70473197A>G	CA381676087	SHANK2	c.3455T>C (p.Phe1152Ser) c.1000T>C (n.1000T>C) c.5222T>C (p.Phe1741Ser) c.2731T>C c.4085T>C (p.Phe1362Ser) c.3512T>C (p.Phe1171Ser) c.3458T>C (p.Phe1153Ser) c.226T>C (n.226T>C) c.3434T>C (p.Phe1145Ser) c.998T>C c.3059T>C (p.Phe1020Ser) n.1974T>C n.1076T>C c.5192T>C (p.Phe1731Ser) c.5234T>C (p.Phe1745Ser) c.5213T>C (p.Phe1738Ser) c.5207T>C (p.Phe1736Ser) c.5186T>C (p.Phe1729Ser) c.4097T>C (p.Phe1366Ser) c.5195T>C (p.Phe1732Ser) n.1077T>C
11	g.70473197A>T	CA381676090	SHANK2	c.3455T>A (p.Phe1152Tyr) c.1000T>A (n.1000T>A) c.5222T>A (p.Phe1741Tyr) c.2731T>A c.4085T>A (p.Phe1362Tyr) c.3512T>A (p.Phe1171Tyr) c.3458T>A (p.Phe1153Tyr) c.226T>A (n.226T>A) c.3434T>A (p.Phe1145Tyr) c.998T>A c.3059T>A (p.Phe1020Tyr) n.1974T>A n.1076T>A c.5192T>A (p.Phe1731Tyr) c.5234T>A (p.Phe1745Tyr) c.5213T>A (p.Phe1738Tyr) c.5207T>A (p.Phe1736Tyr) c.5186T>A (p.Phe1729Tyr) c.4097T>A (p.Phe1366Tyr) c.5195T>A (p.Phe1732Tyr) n.1077T>A
11	g.70473198A>C	CA381676093	SHANK2	c.3454T>G (p.Phe1152Val) c.999T>G (n.999T>G) c.5221T>G (p.Phe1741Val) c.2730T>G c.4084T>G (p.Phe1362Val) c.3511T>G (p.Phe1171Val) c.3457T>G (p.Phe1153Val) c.225T>G (n.225T>G) c.3433T>G (p.Phe1145Val) c.997T>G c.3058T>G (p.Phe1020Val) n.1973T>G n.1075T>G c.5191T>G (p.Phe1731Val) c.5233T>G (p.Phe1745Val) c.5212T>G (p.Phe1738Val) c.5206T>G (p.Phe1736Val) c.5185T>G (p.Phe1729Val) c.4096T>G (p.Phe1366Val) c.5194T>G (p.Phe1732Val) n.1076T>G
11	g.70473198A>G	CA381676096	SHANK2	c.3454T>C (p.Phe1152Leu) c.999T>C (n.999T>C) c.5221T>C (p.Phe1741Leu) c.2730T>C c.4084T>C (p.Phe1362Leu) c.3511T>C (p.Phe1171Leu) c.3457T>C (p.Phe1153Leu) c.225T>C (n.225T>C) c.3433T>C (p.Phe1145Leu) c.997T>C c.3058T>C (p.Phe1020Leu) n.1973T>C n.1075T>C c.5191T>C (p.Phe1731Leu) c.5233T>C (p.Phe1745Leu) c.5212T>C (p.Phe1738Leu) c.5206T>C (p.Phe1736Leu) c.5185T>C (p.Phe1729Leu) c.4096T>C (p.Phe1366Leu) c.5194T>C (p.Phe1732Leu) n.1076T>C
11	g.70473198A>T	CA381676098	SHANK2	c.3454T>A (p.Phe1152Ile) c.999T>A (n.999T>A) c.5221T>A (p.Phe1741Ile) c.2730T>A c.4084T>A (p.Phe1362Ile) c.3511T>A (p.Phe1171Ile) c.3457T>A (p.Phe1153Ile) c.225T>A (n.225T>A) c.3433T>A (p.Phe1145Ile) c.997T>A c.3058T>A (p.Phe1020Ile) n.1973T>A n.1075T>A c.5191T>A (p.Phe1731Ile) c.5233T>A (p.Phe1745Ile) c.5212T>A (p.Phe1738Ile) c.5206T>A (p.Phe1736Ile) c.5185T>A (p.Phe1729Ile) c.4096T>A (p.Phe1366Ile) c.5194T>A (p.Phe1732Ile) n.1076T>A
11	g.70473199G>A	CA475470592	SHANK2	c.3453C>T (p.Val1151=) c.998C>T (n.998C>T) c.5220C>T (p.Val1740=) c.2729C>T c.4083C>T (p.Val1361=) c.3510C>T (p.Val1170=) c.3456C>T (p.Val1152=) c.224C>T (n.224C>T) c.3432C>T (p.Val1144=) c.996C>T c.3057C>T (p.Val1019=) n.1972C>T n.1074C>T c.5190C>T (p.Val1730=) c.5232C>T (p.Val1744=) c.5211C>T (p.Val1737=) c.5205C>T (p.Val1735=) c.5184C>T (p.Val1728=) c.4095C>T (p.Val1365=) c.5193C>T (p.Val1731=) n.1075C>T
11	g.70473199G>C	CA475470594	SHANK2	c.3453C>G (p.Val1151=) c.998C>G (n.998C>G) c.5220C>G (p.Val1740=) c.2729C>G c.4083C>G (p.Val1361=) c.3510C>G (p.Val1170=) c.3456C>G (p.Val1152=) c.224C>G (n.224C>G) c.3432C>G (p.Val1144=) c.996C>G c.3057C>G (p.Val1019=) n.1972C>G n.1074C>G c.5190C>G (p.Val1730=) c.5232C>G (p.Val1744=) c.5211C>G (p.Val1737=) c.5205C>G (p.Val1735=) c.5184C>G (p.Val1728=) c.4095C>G (p.Val1365=) c.5193C>G (p.Val1731=) n.1075C>G
11	g.70473199G=	CA1981067944	SHANK2	c.3453C= (p.Val1151=) c.998C= (n.998C=) c.5220C= (p.Val1740=) c.2729C= c.4083C= (p.Val1361=) c.3510C= (p.Val1170=) c.3456C= (p.Val1152=) c.224C= (n.224C=) c.3432C= (p.Val1144=) c.996C= c.3057C= (p.Val1019=) n.1972C= n.1074C= c.5190C= (p.Val1730=) c.5232C= (p.Val1744=) c.5211C= (p.Val1737=) c.5205C= (p.Val1735=) c.5184C= (p.Val1728=) c.4095C= (p.Val1365=) c.5193C= (p.Val1731=) n.1075C=
11	g.70473199G>T	CA475470596	SHANK2	c.3453C>A (p.Val1151=) c.998C>A (n.998C>A) c.5220C>A (p.Val1740=) c.2729C>A c.4083C>A (p.Val1361=) c.3510C>A (p.Val1170=) c.3456C>A (p.Val1152=) c.224C>A (n.224C>A) c.3432C>A (p.Val1144=) c.996C>A c.3057C>A (p.Val1019=) n.1972C>A n.1074C>A c.5190C>A (p.Val1730=) c.5232C>A (p.Val1744=) c.5211C>A (p.Val1737=) c.5205C>A (p.Val1735=) c.5184C>A (p.Val1728=) c.4095C>A (p.Val1365=) c.5193C>A (p.Val1731=) n.1075C>A	dbSNP
11	g.70473200A>C	CA381676101	SHANK2	c.3452T>G (p.Val1151Gly) c.997T>G (n.997T>G) c.5219T>G (p.Val1740Gly) c.2728T>G c.4082T>G (p.Val1361Gly) c.3509T>G (p.Val1170Gly) c.3455T>G (p.Val1152Gly) c.223T>G (n.223T>G) c.3431T>G (p.Val1144Gly) c.995T>G c.3056T>G (p.Val1019Gly) n.1971T>G n.1073T>G c.5189T>G (p.Val1730Gly) c.5231T>G (p.Val1744Gly) c.5210T>G (p.Val1737Gly) c.5204T>G (p.Val1735Gly) c.5183T>G (p.Val1728Gly) c.4094T>G (p.Val1365Gly) c.5192T>G (p.Val1731Gly) n.1074T>G
11	g.70473200A>G	CA381676103	SHANK2	c.3452T>C (p.Val1151Ala) c.997T>C (n.997T>C) c.5219T>C (p.Val1740Ala) c.2728T>C c.4082T>C (p.Val1361Ala) c.3509T>C (p.Val1170Ala) c.3455T>C (p.Val1152Ala) c.223T>C (n.223T>C) c.3431T>C (p.Val1144Ala) c.995T>C c.3056T>C (p.Val1019Ala) n.1971T>C n.1073T>C c.5189T>C (p.Val1730Ala) c.5231T>C (p.Val1744Ala) c.5210T>C (p.Val1737Ala) c.5204T>C (p.Val1735Ala) c.5183T>C (p.Val1728Ala) c.4094T>C (p.Val1365Ala) c.5192T>C (p.Val1731Ala) n.1074T>C
11	g.70473200A>T	CA381676104	SHANK2	c.3452T>A (p.Val1151Asp) c.997T>A (n.997T>A) c.5219T>A (p.Val1740Asp) c.2728T>A c.4082T>A (p.Val1361Asp) c.3509T>A (p.Val1170Asp) c.3455T>A (p.Val1152Asp) c.223T>A (n.223T>A) c.3431T>A (p.Val1144Asp) c.995T>A c.3056T>A (p.Val1019Asp) n.1971T>A n.1073T>A c.5189T>A (p.Val1730Asp) c.5231T>A (p.Val1744Asp) c.5210T>A (p.Val1737Asp) c.5204T>A (p.Val1735Asp) c.5183T>A (p.Val1728Asp) c.4094T>A (p.Val1365Asp) c.5192T>A (p.Val1731Asp) n.1074T>A
11	g.70473201C>A	CA381676106	SHANK2	c.3451G>T (p.Val1151Phe) c.996G>T (n.996G>T) c.5218G>T (p.Val1740Phe) c.2727G>T c.4081G>T (p.Val1361Phe) c.3508G>T (p.Val1170Phe) c.3454G>T (p.Val1152Phe) c.222G>T (n.222G>T) c.3430G>T (p.Val1144Phe) c.994G>T c.3055G>T (p.Val1019Phe) n.1970G>T n.1072G>T c.5188G>T (p.Val1730Phe) c.5230G>T (p.Val1744Phe) c.5209G>T (p.Val1737Phe) c.5203G>T (p.Val1735Phe) c.5182G>T (p.Val1728Phe) c.4093G>T (p.Val1365Phe) c.5191G>T (p.Val1731Phe) n.1073G>T
11	g.70473201C=	CA1981067945	SHANK2	c.3451G= (p.Val1151=) c.996G= (n.996G=) c.5218G= (p.Val1740=) c.2727G= c.4081G= (p.Val1361=) c.3508G= (p.Val1170=) c.3454G= (p.Val1152=) c.222G= (n.222G=) c.3430G= (p.Val1144=) c.994G= c.3055G= (p.Val1019=) n.1970G= n.1072G= c.5188G= (p.Val1730=) c.5230G= (p.Val1744=) c.5209G= (p.Val1737=) c.5203G= (p.Val1735=) c.5182G= (p.Val1728=) c.4093G= (p.Val1365=) c.5191G= (p.Val1731=) n.1073G=
11	g.70473201C>G	CA381676108	SHANK2	c.3451G>C (p.Val1151Leu) c.996G>C (n.996G>C) c.5218G>C (p.Val1740Leu) c.2727G>C c.4081G>C (p.Val1361Leu) c.3508G>C (p.Val1170Leu) c.3454G>C (p.Val1152Leu) c.222G>C (n.222G>C) c.3430G>C (p.Val1144Leu) c.994G>C c.3055G>C (p.Val1019Leu) n.1970G>C n.1072G>C c.5188G>C (p.Val1730Leu) c.5230G>C (p.Val1744Leu) c.5209G>C (p.Val1737Leu) c.5203G>C (p.Val1735Leu) c.5182G>C (p.Val1728Leu) c.4093G>C (p.Val1365Leu) c.5191G>C (p.Val1731Leu) n.1073G>C
11	g.70473201C>T	CA6160741	SHANK2	c.3451G>A (p.Val1151Ile) c.996G>A (n.996G>A) c.5218G>A (p.Val1740Ile) c.2727G>A c.4081G>A (p.Val1361Ile) c.3508G>A (p.Val1170Ile) c.3454G>A (p.Val1152Ile) c.222G>A (n.222G>A) c.3430G>A (p.Val1144Ile) c.994G>A c.3055G>A (p.Val1019Ile) n.1970G>A n.1072G>A c.5188G>A (p.Val1730Ile) c.5230G>A (p.Val1744Ile) c.5209G>A (p.Val1737Ile) c.5203G>A (p.Val1735Ile) c.5182G>A (p.Val1728Ile) c.4093G>A (p.Val1365Ile) c.5191G>A (p.Val1731Ile) n.1073G>A	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched