Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721366A>C	CA515262160	SHANK3	c.3134A>C (p.Glu1045Ala) n.3718A>C c.2186A>C (p.Glu729Ala) c.1676A>C (p.Glu559Ala) c.2132A>C (n.2132A>C) c.3530A>C (p.Glu1177Ala) c.3512A>C (p.Glu1171Ala)
22	g.50721366A>G	CA515262161	SHANK3	c.3134A>G (p.Glu1045Gly) n.3718A>G c.2186A>G (p.Glu729Gly) c.1676A>G (p.Glu559Gly) c.2132A>G (n.2132A>G) c.3530A>G (p.Glu1177Gly) c.3512A>G (p.Glu1171Gly)	gnomAD v4
22	g.50721366A>T	CA515262162	SHANK3	c.3134A>T (p.Glu1045Val) n.3718A>T c.2186A>T (p.Glu729Val) c.1676A>T (p.Glu559Val) c.2132A>T (n.2132A>T) c.3530A>T (p.Glu1177Val) c.3512A>T (p.Glu1171Val)
22	g.50721367G>A	CA515262164	SHANK3	c.3135G>A (p.Glu1045=) n.3719G>A c.2187G>A (p.Glu729=) c.1677G>A (p.Glu559=) c.2133G>A (n.2133G>A) c.3531G>A (p.Glu1177=) c.3513G>A (p.Glu1171=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721367G>C	CA515262165	SHANK3	c.3135G>C (p.Glu1045Asp) n.3719G>C c.2187G>C (p.Glu729Asp) c.1677G>C (p.Glu559Asp) c.2133G>C (n.2133G>C) c.3531G>C (p.Glu1177Asp) c.3513G>C (p.Glu1171Asp)
22	g.50721367G=	CA2411008193	SHANK3	c.3135G= (p.Glu1045=) n.3719G= c.2187G= (p.Glu729=) c.1677G= (p.Glu559=) c.2133G= (n.2133G=) c.3531G= (p.Glu1177=) c.3513G= (p.Glu1171=)
22	g.50721367G>T	CA515262166	SHANK3	c.3135G>T (p.Glu1045Asp) n.3719G>T c.2187G>T (p.Glu729Asp) c.1677G>T (p.Glu559Asp) c.2133G>T (n.2133G>T) c.3531G>T (p.Glu1177Asp) c.3513G>T (p.Glu1171Asp)
22	g.50721368A=	CA2411008194	SHANK3	c.3136A= (p.Lys1046=) n.3720A= c.2188A= (p.Lys730=) c.1678A= (p.Lys560=) c.2134A= (n.2134A=) c.3532A= (p.Lys1178=) c.3514A= (p.Lys1172=)
22	g.50721368A>C	CA515262168	SHANK3	c.3136A>C (p.Lys1046Gln) n.3720A>C c.2188A>C (p.Lys730Gln) c.1678A>C (p.Lys560Gln) c.2134A>C (n.2134A>C) c.3532A>C (p.Lys1178Gln) c.3514A>C (p.Lys1172Gln)
22	g.50721368A>G	CA10326058	SHANK3	c.3136A>G (p.Lys1046Glu) n.3720A>G c.2188A>G (p.Lys730Glu) c.1678A>G (p.Lys560Glu) c.2134A>G (n.2134A>G) c.3532A>G (p.Lys1178Glu) c.3514A>G (p.Lys1172Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721368A>T	CA515262167	SHANK3	c.3136A>T (p.Lys1046Ter) n.3720A>T c.2188A>T (p.Lys730Ter) c.1678A>T (p.Lys560Ter) c.2134A>T (n.2134A>T) c.3532A>T (p.Lys1178Ter) c.3514A>T (p.Lys1172Ter)	ClinVar dbSNP
22	g.50721369A>C	CA515262169	SHANK3	c.3137A>C (p.Lys1046Thr) n.3721A>C c.2189A>C (p.Lys730Thr) c.1679A>C (p.Lys560Thr) c.2135A>C (n.2135A>C) c.3533A>C (p.Lys1178Thr) c.3515A>C (p.Lys1172Thr)
22	g.50721369A>G	CA515262170	SHANK3	c.3137A>G (p.Lys1046Arg) n.3721A>G c.2189A>G (p.Lys730Arg) c.1679A>G (p.Lys560Arg) c.2135A>G (n.2135A>G) c.3533A>G (p.Lys1178Arg) c.3515A>G (p.Lys1172Arg)
22	g.50721369A>T	CA515262172	SHANK3	c.3137A>T (p.Lys1046Met) n.3721A>T c.2189A>T (p.Lys730Met) c.1679A>T (p.Lys560Met) c.2135A>T (n.2135A>T) c.3533A>T (p.Lys1178Met) c.3515A>T (p.Lys1172Met)	gnomAD v4
22	g.50721370G>A	CA10326059	SHANK3	c.3138G>A (p.Lys1046=) n.3722G>A c.2190G>A (p.Lys730=) c.1680G>A (p.Lys560=) c.2136G>A (n.2136G>A) c.3534G>A (p.Lys1178=) c.3516G>A (p.Lys1172=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721370G>C	CA515262174	SHANK3	c.3138G>C (p.Lys1046Asn) n.3722G>C c.2190G>C (p.Lys730Asn) c.1680G>C (p.Lys560Asn) c.2136G>C (n.2136G>C) c.3534G>C (p.Lys1178Asn) c.3516G>C (p.Lys1172Asn)
22	g.50721370G=	CA2411008195	SHANK3	c.3138G= (p.Lys1046=) n.3722G= c.2190G= (p.Lys730=) c.1680G= (p.Lys560=) c.2136G= (n.2136G=) c.3534G= (p.Lys1178=) c.3516G= (p.Lys1172=)
22	g.50721370G>T	CA515262176	SHANK3	c.3138G>T (p.Lys1046Asn) n.3722G>T c.2190G>T (p.Lys730Asn) c.1680G>T (p.Lys560Asn) c.2136G>T (n.2136G>T) c.3534G>T (p.Lys1178Asn) c.3516G>T (p.Lys1172Asn)	gnomAD v4
22	g.50721371G>A	CA515262181	SHANK3	c.3139G>A (p.Val1047Ile) n.3723G>A c.2191G>A (p.Val731Ile) c.1681G>A (p.Val561Ile) c.2137G>A (n.2137G>A) c.3535G>A (p.Val1179Ile) c.3517G>A (p.Val1173Ile)
22	g.50721371G>C	CA515262180	SHANK3	c.3139G>C (p.Val1047Leu) n.3723G>C c.2191G>C (p.Val731Leu) c.1681G>C (p.Val561Leu) c.2137G>C (n.2137G>C) c.3535G>C (p.Val1179Leu) c.3517G>C (p.Val1173Leu)
22	g.50721371G>T	CA515262178	SHANK3	c.3139G>T (p.Val1047Phe) n.3723G>T c.2191G>T (p.Val731Phe) c.1681G>T (p.Val561Phe) c.2137G>T (n.2137G>T) c.3535G>T (p.Val1179Phe) c.3517G>T (p.Val1173Phe)
22	g.50721372T>A	CA515262182	SHANK3	c.3140T>A (p.Val1047Asp) n.3724T>A c.2192T>A (p.Val731Asp) c.1682T>A (p.Val561Asp) c.2138T>A (n.2138T>A) c.3536T>A (p.Val1179Asp) c.3518T>A (p.Val1173Asp)
22	g.50721372T>C	CA325579054	SHANK3	c.3140T>C (p.Val1047Ala) n.3724T>C c.2192T>C (p.Val731Ala) c.1682T>C (p.Val561Ala) c.2138T>C (n.2138T>C) c.3536T>C (p.Val1179Ala) c.3518T>C (p.Val1173Ala)	dbSNP
22	g.50721372T>G	CA515262183	SHANK3	c.3140T>G (p.Val1047Gly) n.3724T>G c.2192T>G (p.Val731Gly) c.1682T>G (p.Val561Gly) c.2138T>G (n.2138T>G) c.3536T>G (p.Val1179Gly) c.3518T>G (p.Val1173Gly)
22	g.50721372T=	CA2411008196	SHANK3	c.3140T= (p.Val1047=) n.3724T= c.2192T= (p.Val731=) c.1682T= (p.Val561=) c.2138T= (n.2138T=) c.3536T= (p.Val1179=) c.3518T= (p.Val1173=)
22	g.50721373C>A	CA10326061	SHANK3	c.3141C>A (p.Val1047=) n.3725C>A c.2193C>A (p.Val731=) c.1683C>A (p.Val561=) c.2139C>A (n.2139C>A) c.3537C>A (p.Val1179=) c.3519C>A (p.Val1173=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721373C=	CA2411008197	SHANK3	c.3141C= (p.Val1047=) n.3725C= c.2193C= (p.Val731=) c.1683C= (p.Val561=) c.2139C= (n.2139C=) c.3537C= (p.Val1179=) c.3519C= (p.Val1173=)
22	g.50721373C>G	CA515262185	SHANK3	c.3141C>G (p.Val1047=) n.3725C>G c.2193C>G (p.Val731=) c.1683C>G (p.Val561=) c.2139C>G (n.2139C>G) c.3537C>G (p.Val1179=) c.3519C>G (p.Val1173=)
22	g.50721373C>T	CA10326060	SHANK3	c.3141C>T (p.Val1047=) n.3725C>T c.2193C>T (p.Val731=) c.1683C>T (p.Val561=) c.2139C>T (n.2139C>T) c.3537C>T (p.Val1179=) c.3519C>T (p.Val1173=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721374C>A	CA10326062	SHANK3	c.3142C>A (p.Pro1048Thr) n.3726C>A c.2194C>A (p.Pro732Thr) c.1684C>A (p.Pro562Thr) c.2140C>A (n.2140C>A) c.3538C>A (p.Pro1180Thr) c.3520C>A (p.Pro1174Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721374C=	CA2411008198	SHANK3	c.3142C= (p.Pro1048=) n.3726C= c.2194C= (p.Pro732=) c.1684C= (p.Pro562=) c.2140C= (n.2140C=) c.3538C= (p.Pro1180=) c.3520C= (p.Pro1174=)
22	g.50721374C>G	CA515262187	SHANK3	c.3142C>G (p.Pro1048Ala) n.3726C>G c.2194C>G (p.Pro732Ala) c.1684C>G (p.Pro562Ala) c.2140C>G (n.2140C>G) c.3538C>G (p.Pro1180Ala) c.3520C>G (p.Pro1174Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50721374C>T	CA10326063	SHANK3	c.3142C>T (p.Pro1048Ser) n.3726C>T c.2194C>T (p.Pro732Ser) c.1684C>T (p.Pro562Ser) c.2140C>T (n.2140C>T) c.3538C>T (p.Pro1180Ser) c.3520C>T (p.Pro1174Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721375C>A	CA515262189	SHANK3	c.3143C>A (p.Pro1048His) n.3727C>A c.2195C>A (p.Pro732His) c.1685C>A (p.Pro562His) c.2141C>A (n.2141C>A) c.3539C>A (p.Pro1180His) c.3521C>A (p.Pro1174His)	dbSNP gnomAD v2 gnomAD v4
22	g.50721375C=	CA2411008199	SHANK3	c.3143C= (p.Pro1048=) n.3727C= c.2195C= (p.Pro732=) c.1685C= (p.Pro562=) c.2141C= (n.2141C=) c.3539C= (p.Pro1180=) c.3521C= (p.Pro1174=)
22	g.50721375C>G	CA515262191	SHANK3	c.3143C>G (p.Pro1048Arg) n.3727C>G c.2195C>G (p.Pro732Arg) c.1685C>G (p.Pro562Arg) c.2141C>G (n.2141C>G) c.3539C>G (p.Pro1180Arg) c.3521C>G (p.Pro1174Arg)
22	g.50721375C>T	CA515262193	SHANK3	c.3143C>T (p.Pro1048Leu) n.3727C>T c.2195C>T (p.Pro732Leu) c.1685C>T (p.Pro562Leu) c.2141C>T (n.2141C>T) c.3539C>T (p.Pro1180Leu) c.3521C>T (p.Pro1174Leu)	gnomAD v4
22	g.50721376C>A	CA515262194	SHANK3	c.3144C>A (p.Pro1048=) n.3728C>A c.2196C>A (p.Pro732=) c.1686C>A (p.Pro562=) c.2142C>A (n.2142C>A) c.3540C>A (p.Pro1180=) c.3522C>A (p.Pro1174=)
22	g.50721376C=	CA2411008200	SHANK3	c.3144C= (p.Pro1048=) n.3728C= c.2196C= (p.Pro732=) c.1686C= (p.Pro562=) c.2142C= (n.2142C=) c.3540C= (p.Pro1180=) c.3522C= (p.Pro1174=)
22	g.50721376C>G	CA515262195	SHANK3	c.3144C>G (p.Pro1048=) n.3728C>G c.2196C>G (p.Pro732=) c.1686C>G (p.Pro562=) c.2142C>G (n.2142C>G) c.3540C>G (p.Pro1180=) c.3522C>G (p.Pro1174=)
22	g.50721376C>T	CA325579076	SHANK3	c.3144C>T (p.Pro1048=) n.3728C>T c.2196C>T (p.Pro732=) c.1686C>T (p.Pro562=) c.2142C>T (n.2142C>T) c.3540C>T (p.Pro1180=) c.3522C>T (p.Pro1174=)	dbSNP gnomAD v4 COSMIC COSMIC
22	g.50721377C>A	CA515262196	SHANK3	c.3145C>A (p.Arg1049=) n.3729C>A c.2197C>A (p.Arg733=) c.1687C>A (p.Arg563=) c.2143C>A (n.2143C>A) c.3541C>A (p.Arg1181=) c.3523C>A (p.Arg1175=)	gnomAD v4
22	g.50721377C=	CA2411008201	SHANK3	c.3145C= (p.Arg1049=) n.3729C= c.2197C= (p.Arg733=) c.1687C= (p.Arg563=) c.2143C= (n.2143C=) c.3541C= (p.Arg1181=) c.3523C= (p.Arg1175=)
22	g.50721377C>G	CA10326064	SHANK3	c.3145C>G (p.Arg1049Gly) n.3729C>G c.2197C>G (p.Arg733Gly) c.1687C>G (p.Arg563Gly) c.2143C>G (n.2143C>G) c.3541C>G (p.Arg1181Gly) c.3523C>G (p.Arg1175Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721377C>T	CA515262197	SHANK3	c.3145C>T (p.Arg1049Trp) n.3729C>T c.2197C>T (p.Arg733Trp) c.1687C>T (p.Arg563Trp) c.2143C>T (n.2143C>T) c.3541C>T (p.Arg1181Trp) c.3523C>T (p.Arg1175Trp)	ClinVar dbSNP gnomAD v4
22	g.50721378G>A	CA515262198	SHANK3	c.3146G>A (p.Arg1049Gln) n.3730G>A c.2198G>A (p.Arg733Gln) c.1688G>A (p.Arg563Gln) c.2144G>A (n.2144G>A) c.3542G>A (p.Arg1181Gln) c.3524G>A (p.Arg1175Gln)	dbSNP gnomAD v3 gnomAD v4
22	g.50721378G>C	CA515262199	SHANK3	c.3146G>C (p.Arg1049Pro) n.3730G>C c.2198G>C (p.Arg733Pro) c.1688G>C (p.Arg563Pro) c.2144G>C (n.2144G>C) c.3542G>C (p.Arg1181Pro) c.3524G>C (p.Arg1175Pro)
22	g.50721378G=	CA2411008202	SHANK3	c.3146G= (p.Arg1049=) n.3730G= c.2198G= (p.Arg733=) c.1688G= (p.Arg563=) c.2144G= (n.2144G=) c.3542G= (p.Arg1181=) c.3524G= (p.Arg1175=)
22	g.50721378G>T	CA515262200	SHANK3	c.3146G>T (p.Arg1049Leu) n.3730G>T c.2198G>T (p.Arg733Leu) c.1688G>T (p.Arg563Leu) c.2144G>T (n.2144G>T) c.3542G>T (p.Arg1181Leu) c.3524G>T (p.Arg1175Leu)	gnomAD v4
22	g.50721379G>A	CA515262201	SHANK3	c.3147G>A (p.Arg1049=) n.3731G>A c.2199G>A (p.Arg733=) c.1689G>A (p.Arg563=) c.2145G>A (n.2145G>A) c.3543G>A (p.Arg1181=) c.3525G>A (p.Arg1175=)	gnomAD v4
22	g.50721379G>C	CA515262205	SHANK3	c.3147G>C (p.Arg1049=) n.3731G>C c.2199G>C (p.Arg733=) c.1689G>C (p.Arg563=) c.2145G>C (n.2145G>C) c.3543G>C (p.Arg1181=) c.3525G>C (p.Arg1175=)
22	g.50721379G>T	CA515262202	SHANK3	c.3147G>T (p.Arg1049=) n.3731G>T c.2199G>T (p.Arg733=) c.1689G>T (p.Arg563=) c.2145G>T (n.2145G>T) c.3543G>T (p.Arg1181=) c.3525G>T (p.Arg1175=)
22	g.50721380G>A	CA515262206	SHANK3	c.3148G>A (p.Glu1050Lys) n.3732G>A c.2200G>A (p.Glu734Lys) c.1690G>A (p.Glu564Lys) c.2146G>A (n.2146G>A) c.3544G>A (p.Glu1182Lys) c.3526G>A (p.Glu1176Lys)
22	g.50721380G>C	CA515262207	SHANK3	c.3148G>C (p.Glu1050Gln) n.3732G>C c.2200G>C (p.Glu734Gln) c.1690G>C (p.Glu564Gln) c.2146G>C (n.2146G>C) c.3544G>C (p.Glu1182Gln) c.3526G>C (p.Glu1176Gln)
22	g.50721380G>T	CA515262208	SHANK3	c.3148G>T (p.Glu1050Ter) n.3732G>T c.2200G>T (p.Glu734Ter) c.1690G>T (p.Glu564Ter) c.2146G>T (n.2146G>T) c.3544G>T (p.Glu1182Ter) c.3526G>T (p.Glu1176Ter)
22	g.50721381A>C	CA515262209	SHANK3	c.3149A>C (p.Glu1050Ala) n.3733A>C c.2201A>C (p.Glu734Ala) c.1691A>C (p.Glu564Ala) c.2147A>C (n.2147A>C) c.3545A>C (p.Glu1182Ala) c.3527A>C (p.Glu1176Ala)
22	g.50721381A>G	CA515262210	SHANK3	c.3149A>G (p.Glu1050Gly) n.3733A>G c.2201A>G (p.Glu734Gly) c.1691A>G (p.Glu564Gly) c.2147A>G (n.2147A>G) c.3545A>G (p.Glu1182Gly) c.3527A>G (p.Glu1176Gly)
22	g.50721381A>T	CA515262211	SHANK3	c.3149A>T (p.Glu1050Val) n.3733A>T c.2201A>T (p.Glu734Val) c.1691A>T (p.Glu564Val) c.2147A>T (n.2147A>T) c.3545A>T (p.Glu1182Val) c.3527A>T (p.Glu1176Val)
22	g.50721382G>A	CA515262212	SHANK3	c.3150G>A (p.Glu1050=) n.3734G>A c.2202G>A (p.Glu734=) c.1692G>A (p.Glu564=) c.2148G>A (n.2148G>A) c.3546G>A (p.Glu1182=) c.3528G>A (p.Glu1176=)
22	g.50721382G>C	CA515262213	SHANK3	c.3150G>C (p.Glu1050Asp) n.3734G>C c.2202G>C (p.Glu734Asp) c.1692G>C (p.Glu564Asp) c.2148G>C (n.2148G>C) c.3546G>C (p.Glu1182Asp) c.3528G>C (p.Glu1176Asp)
22	g.50721382G>T	CA515262215	SHANK3	c.3150G>T (p.Glu1050Asp) n.3734G>T c.2202G>T (p.Glu734Asp) c.1692G>T (p.Glu564Asp) c.2148G>T (n.2148G>T) c.3546G>T (p.Glu1182Asp) c.3528G>T (p.Glu1176Asp)
22	g.50721383G>A	CA10326065	SHANK3	c.3151G>A (p.Glu1051Lys) n.3735G>A c.2203G>A (p.Glu735Lys) c.1693G>A (p.Glu565Lys) c.2149G>A (n.2149G>A) c.3547G>A (p.Glu1183Lys) c.3529G>A (p.Glu1177Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721383G>C	CA515262218	SHANK3	c.3151G>C (p.Glu1051Gln) n.3735G>C c.2203G>C (p.Glu735Gln) c.1693G>C (p.Glu565Gln) c.2149G>C (n.2149G>C) c.3547G>C (p.Glu1183Gln) c.3529G>C (p.Glu1177Gln)
22	g.50721383G=	CA2411008203	SHANK3	c.3151G= (p.Glu1051=) n.3735G= c.2203G= (p.Glu735=) c.1693G= (p.Glu565=) c.2149G= (n.2149G=) c.3547G= (p.Glu1183=) c.3529G= (p.Glu1177=)
22	g.50721383G>T	CA515262219	SHANK3	c.3151G>T (p.Glu1051Ter) n.3735G>T c.2203G>T (p.Glu735Ter) c.1693G>T (p.Glu565Ter) c.2149G>T (n.2149G>T) c.3547G>T (p.Glu1183Ter) c.3529G>T (p.Glu1177Ter)
22	g.50721384A=	CA2411008204	SHANK3	c.3152A= (p.Glu1051=) n.3736A= c.2204A= (p.Glu735=) c.1694A= (p.Glu565=) c.2150A= (n.2150A=) c.3548A= (p.Glu1183=) c.3530A= (p.Glu1177=)
22	g.50721384A>C	CA515262222	SHANK3	c.3152A>C (p.Glu1051Ala) n.3736A>C c.2204A>C (p.Glu735Ala) c.1694A>C (p.Glu565Ala) c.2150A>C (n.2150A>C) c.3548A>C (p.Glu1183Ala) c.3530A>C (p.Glu1177Ala)
22	g.50721384A>G	CA515262220	SHANK3	c.3152A>G (p.Glu1051Gly) n.3736A>G c.2204A>G (p.Glu735Gly) c.1694A>G (p.Glu565Gly) c.2150A>G (n.2150A>G) c.3548A>G (p.Glu1183Gly) c.3530A>G (p.Glu1177Gly)	dbSNP gnomAD v2 gnomAD v4
22	g.50721384A>T	CA515262221	SHANK3	c.3152A>T (p.Glu1051Val) n.3736A>T c.2204A>T (p.Glu735Val) c.1694A>T (p.Glu565Val) c.2150A>T (n.2150A>T) c.3548A>T (p.Glu1183Val) c.3530A>T (p.Glu1177Val)
22	g.50721385G>A	CA10326066	SHANK3	c.3153G>A (p.Glu1051=) n.3737G>A c.2205G>A (p.Glu735=) c.1695G>A (p.Glu565=) c.2151G>A (n.2151G>A) c.3549G>A (p.Glu1183=) c.3531G>A (p.Glu1177=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721385G>C	CA515262223	SHANK3	c.3153G>C (p.Glu1051Asp) n.3737G>C c.2205G>C (p.Glu735Asp) c.1695G>C (p.Glu565Asp) c.2151G>C (n.2151G>C) c.3549G>C (p.Glu1183Asp) c.3531G>C (p.Glu1177Asp)
22	g.50721385G=	CA2411008205	SHANK3	c.3153G= (p.Glu1051=) n.3737G= c.2205G= (p.Glu735=) c.1695G= (p.Glu565=) c.2151G= (n.2151G=) c.3549G= (p.Glu1183=) c.3531G= (p.Glu1177=)
22	g.50721385G>T	CA515262224	SHANK3	c.3153G>T (p.Glu1051Asp) n.3737G>T c.2205G>T (p.Glu735Asp) c.1695G>T (p.Glu565Asp) c.2151G>T (n.2151G>T) c.3549G>T (p.Glu1183Asp) c.3531G>T (p.Glu1177Asp)
22	g.50721386C>A	CA10326067	SHANK3	c.3154C>A (p.Arg1052=) n.3738C>A c.2206C>A (p.Arg736=) c.1696C>A (p.Arg566=) c.2152C>A (n.2152C>A) c.3550C>A (p.Arg1184=) c.3532C>A (p.Arg1178=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721386C=	CA2411008206	SHANK3	c.3154C= (p.Arg1052=) n.3738C= c.2206C= (p.Arg736=) c.1696C= (p.Arg566=) c.2152C= (n.2152C=) c.3550C= (p.Arg1184=) c.3532C= (p.Arg1178=)
22	g.50721386C>G	CA515262226	SHANK3	c.3154C>G (p.Arg1052Gly) n.3738C>G c.2206C>G (p.Arg736Gly) c.1696C>G (p.Arg566Gly) c.2152C>G (n.2152C>G) c.3550C>G (p.Arg1184Gly) c.3532C>G (p.Arg1178Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721386C>T	CA325579129	SHANK3	c.3154C>T (p.Arg1052Trp) n.3738C>T c.2206C>T (p.Arg736Trp) c.1696C>T (p.Arg566Trp) c.2152C>T (n.2152C>T) c.3550C>T (p.Arg1184Trp) c.3532C>T (p.Arg1178Trp)	dbSNP gnomAD v3 gnomAD v4
22	g.50721387G>A	CA10326068	SHANK3	c.3155G>A (p.Arg1052Gln) n.3739G>A c.2207G>A (p.Arg736Gln) c.1697G>A (p.Arg566Gln) c.2153G>A (n.2153G>A) c.3551G>A (p.Arg1184Gln) c.3533G>A (p.Arg1178Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721387G>C	CA515262230	SHANK3	c.3155G>C (p.Arg1052Pro) n.3739G>C c.2207G>C (p.Arg736Pro) c.1697G>C (p.Arg566Pro) c.2153G>C (n.2153G>C) c.3551G>C (p.Arg1184Pro) c.3533G>C (p.Arg1178Pro)
22	g.50721387G=	CA2411008207	SHANK3	c.3155G= (p.Arg1052=) n.3739G= c.2207G= (p.Arg736=) c.1697G= (p.Arg566=) c.2153G= (n.2153G=) c.3551G= (p.Arg1184=) c.3533G= (p.Arg1178=)
22	g.50721387G>T	CA515262231	SHANK3	c.3155G>T (p.Arg1052Leu) n.3739G>T c.2207G>T (p.Arg736Leu) c.1697G>T (p.Arg566Leu) c.2153G>T (n.2153G>T) c.3551G>T (p.Arg1184Leu) c.3533G>T (p.Arg1178Leu)
22	g.50721388G>A	CA515262232	SHANK3	c.3156G>A (p.Arg1052=) n.3740G>A c.2208G>A (p.Arg736=) c.1698G>A (p.Arg566=) c.2154G>A (n.2154G>A) c.3552G>A (p.Arg1184=) c.3534G>A (p.Arg1178=)
22	g.50721388G>C	CA515262233	SHANK3	c.3156G>C (p.Arg1052=) n.3740G>C c.2208G>C (p.Arg736=) c.1698G>C (p.Arg566=) c.2154G>C (n.2154G>C) c.3552G>C (p.Arg1184=) c.3534G>C (p.Arg1178=)
22	g.50721388G=	CA2411008208	SHANK3	c.3156G= (p.Arg1052=) n.3740G= c.2208G= (p.Arg736=) c.1698G= (p.Arg566=) c.2154G= (n.2154G=) c.3552G= (p.Arg1184=) c.3534G= (p.Arg1178=)
22	g.50721388G>T	CA515262234	SHANK3	c.3156G>T (p.Arg1052=) n.3740G>T c.2208G>T (p.Arg736=) c.1698G>T (p.Arg566=) c.2154G>T (n.2154G>T) c.3552G>T (p.Arg1184=) c.3534G>T (p.Arg1178=)	dbSNP gnomAD v4
22	g.50721389A>C	CA515262236	SHANK3	c.3157A>C (p.Lys1053Gln) n.3741A>C c.2209A>C (p.Lys737Gln) c.1699A>C (p.Lys567Gln) c.2155A>C (n.2155A>C) c.3553A>C (p.Lys1185Gln) c.3535A>C (p.Lys1179Gln)	gnomAD v4
22	g.50721389A>G	CA515262237	SHANK3	c.3157A>G (p.Lys1053Glu) n.3741A>G c.2209A>G (p.Lys737Glu) c.1699A>G (p.Lys567Glu) c.2155A>G (n.2155A>G) c.3553A>G (p.Lys1185Glu) c.3535A>G (p.Lys1179Glu)
22	g.50721389A>T	CA515262235	SHANK3	c.3157A>T (p.Lys1053Ter) n.3741A>T c.2209A>T (p.Lys737Ter) c.1699A>T (p.Lys567Ter) c.2155A>T (n.2155A>T) c.3553A>T (p.Lys1185Ter) c.3535A>T (p.Lys1179Ter)
22	g.50721390A>C	CA515262238	SHANK3	c.3158A>C (p.Lys1053Thr) n.3742A>C c.2210A>C (p.Lys737Thr) c.1700A>C (p.Lys567Thr) c.2156A>C (n.2156A>C) c.3554A>C (p.Lys1185Thr) c.3536A>C (p.Lys1179Thr)
22	g.50721390A>G	CA515262239	SHANK3	c.3158A>G (p.Lys1053Arg) n.3742A>G c.2210A>G (p.Lys737Arg) c.1700A>G (p.Lys567Arg) c.2156A>G (n.2156A>G) c.3554A>G (p.Lys1185Arg) c.3536A>G (p.Lys1179Arg)	gnomAD v4
22	g.50721390A>T	CA515262241	SHANK3	c.3158A>T (p.Lys1053Met) n.3742A>T c.2210A>T (p.Lys737Met) c.1700A>T (p.Lys567Met) c.2156A>T (n.2156A>T) c.3554A>T (p.Lys1185Met) c.3536A>T (p.Lys1179Met)
22	g.50721391G>A	CA515262242	SHANK3	c.3159G>A (p.Lys1053=) n.3743G>A c.2211G>A (p.Lys737=) c.1701G>A (p.Lys567=) c.2157G>A (n.2157G>A) c.3555G>A (p.Lys1185=) c.3537G>A (p.Lys1179=)
22	g.50721391G>C	CA515262243	SHANK3	c.3159G>C (p.Lys1053Asn) n.3743G>C c.2211G>C (p.Lys737Asn) c.1701G>C (p.Lys567Asn) c.2157G>C (n.2157G>C) c.3555G>C (p.Lys1185Asn) c.3537G>C (p.Lys1179Asn)
22	g.50721391G>T	CA515262244	SHANK3	c.3159G>T (p.Lys1053Asn) n.3743G>T c.2211G>T (p.Lys737Asn) c.1701G>T (p.Lys567Asn) c.2157G>T (n.2157G>T) c.3555G>T (p.Lys1185Asn) c.3537G>T (p.Lys1179Asn)
22	g.50721392T>A	CA325579155	SHANK3	c.3160T>A (p.Ser1054Thr) n.3744T>A c.2212T>A (p.Ser738Thr) c.1702T>A (p.Ser568Thr) c.2158T>A (n.2158T>A) c.3556T>A (p.Ser1186Thr) c.3538T>A (p.Ser1180Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721392T>C	CA515262246	SHANK3	c.3160T>C (p.Ser1054Pro) n.3744T>C c.2212T>C (p.Ser738Pro) c.1702T>C (p.Ser568Pro) c.2158T>C (n.2158T>C) c.3556T>C (p.Ser1186Pro) c.3538T>C (p.Ser1180Pro)
22	g.50721392T>G	CA515262247	SHANK3	c.3160T>G (p.Ser1054Ala) n.3744T>G c.2212T>G (p.Ser738Ala) c.1702T>G (p.Ser568Ala) c.2158T>G (n.2158T>G) c.3556T>G (p.Ser1186Ala) c.3538T>G (p.Ser1180Ala)
22	g.50721392T=	CA2411008209	SHANK3	c.3160T= (p.Ser1054=) n.3744T= c.2212T= (p.Ser738=) c.1702T= (p.Ser568=) c.2158T= (n.2158T=) c.3556T= (p.Ser1186=) c.3538T= (p.Ser1180=)
22	g.50721393C>A	CA515262248	SHANK3	c.3161C>A (p.Ser1054Ter) n.3745C>A c.2213C>A (p.Ser738Ter) c.1703C>A (p.Ser568Ter) c.2159C>A (n.2159C>A) c.3557C>A (p.Ser1186Ter) c.3539C>A (p.Ser1180Ter)
22	g.50721393C=	CA2411008210	SHANK3	c.3161C= (p.Ser1054=) n.3745C= c.2213C= (p.Ser738=) c.1703C= (p.Ser568=) c.2159C= (n.2159C=) c.3557C= (p.Ser1186=) c.3539C= (p.Ser1180=)
22	g.50721393C>G	CA515262249	SHANK3	c.3161C>G (p.Ser1054Ter) n.3745C>G c.2213C>G (p.Ser738Ter) c.1703C>G (p.Ser568Ter) c.2159C>G (n.2159C>G) c.3557C>G (p.Ser1186Ter) c.3539C>G (p.Ser1180Ter)
22	g.50721393C>T	CA515262250	SHANK3	c.3161C>T (p.Ser1054Leu) n.3745C>T c.2213C>T (p.Ser738Leu) c.1703C>T (p.Ser568Leu) c.2159C>T (n.2159C>T) c.3557C>T (p.Ser1186Leu) c.3539C>T (p.Ser1180Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721394A=	CA2411008211	SHANK3	c.3162A= (p.Ser1054=) n.3746A= c.2214A= (p.Ser738=) c.1704A= (p.Ser568=) c.2160A= (n.2160A=) c.3558A= (p.Ser1186=) c.3540A= (p.Ser1180=)
22	g.50721394A>C	CA515262252	SHANK3	c.3162A>C (p.Ser1054=) n.3746A>C c.2214A>C (p.Ser738=) c.1704A>C (p.Ser568=) c.2160A>C (n.2160A>C) c.3558A>C (p.Ser1186=) c.3540A>C (p.Ser1180=)
22	g.50721394A>G	CA515262254	SHANK3	c.3162A>G (p.Ser1054=) n.3746A>G c.2214A>G (p.Ser738=) c.1704A>G (p.Ser568=) c.2160A>G (n.2160A>G) c.3558A>G (p.Ser1186=) c.3540A>G (p.Ser1180=)	gnomAD v4
22	g.50721394A>T	CA515262256	SHANK3	c.3162A>T (p.Ser1054=) n.3746A>T c.2214A>T (p.Ser738=) c.1704A>T (p.Ser568=) c.2160A>T (n.2160A>T) c.3558A>T (p.Ser1186=) c.3540A>T (p.Ser1180=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721395C>A	CA515262257	SHANK3	c.3163C>A (p.Pro1055Thr) n.3747C>A c.2215C>A (p.Pro739Thr) c.1705C>A (p.Pro569Thr) c.2161C>A (n.2161C>A) c.3559C>A (p.Pro1187Thr) c.3541C>A (p.Pro1181Thr)	dbSNP
22	g.50721395C=	CA2411008212	SHANK3	c.3163C= (p.Pro1055=) n.3747C= c.2215C= (p.Pro739=) c.1705C= (p.Pro569=) c.2161C= (n.2161C=) c.3559C= (p.Pro1187=) c.3541C= (p.Pro1181=)
22	g.50721395C>G	CA325579161	SHANK3	c.3163C>G (p.Pro1055Ala) n.3747C>G c.2215C>G (p.Pro739Ala) c.1705C>G (p.Pro569Ala) c.2161C>G (n.2161C>G) c.3559C>G (p.Pro1187Ala) c.3541C>G (p.Pro1181Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50721395C>T	CA10326069	SHANK3	c.3163C>T (p.Pro1055Ser) n.3747C>T c.2215C>T (p.Pro739Ser) c.1705C>T (p.Pro569Ser) c.2161C>T (n.2161C>T) c.3559C>T (p.Pro1187Ser) c.3541C>T (p.Pro1181Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721396C>A	CA515262258	SHANK3	c.3164C>A (p.Pro1055His) n.3748C>A c.2216C>A (p.Pro739His) c.1706C>A (p.Pro569His) c.2162C>A (n.2162C>A) c.3560C>A (p.Pro1187His) c.3542C>A (p.Pro1181His)
22	g.50721396C=	CA2411008213	SHANK3	c.3164C= (p.Pro1055=) n.3748C= c.2216C= (p.Pro739=) c.1706C= (p.Pro569=) c.2162C= (n.2162C=) c.3560C= (p.Pro1187=) c.3542C= (p.Pro1181=)
22	g.50721396C>G	CA515262259	SHANK3	c.3164C>G (p.Pro1055Arg) n.3748C>G c.2216C>G (p.Pro739Arg) c.1706C>G (p.Pro569Arg) c.2162C>G (n.2162C>G) c.3560C>G (p.Pro1187Arg) c.3542C>G (p.Pro1181Arg)
22	g.50721396C>T	CA10326070	SHANK3	c.3164C>T (p.Pro1055Leu) n.3748C>T c.2216C>T (p.Pro739Leu) c.1706C>T (p.Pro569Leu) c.2162C>T (n.2162C>T) c.3560C>T (p.Pro1187Leu) c.3542C>T (p.Pro1181Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721397C>A	CA515262262	SHANK3	c.3165C>A (p.Pro1055=) n.3749C>A c.2217C>A (p.Pro739=) c.1707C>A (p.Pro569=) c.2163C>A (n.2163C>A) c.3561C>A (p.Pro1187=) c.3543C>A (p.Pro1181=)
22	g.50721397C=	CA2411008214	SHANK3	c.3165C= (p.Pro1055=) n.3749C= c.2217C= (p.Pro739=) c.1707C= (p.Pro569=) c.2163C= (n.2163C=) c.3561C= (p.Pro1187=) c.3543C= (p.Pro1181=)
22	g.50721397C>G	CA515262263	SHANK3	c.3165C>G (p.Pro1055=) n.3749C>G c.2217C>G (p.Pro739=) c.1707C>G (p.Pro569=) c.2163C>G (n.2163C>G) c.3561C>G (p.Pro1187=) c.3543C>G (p.Pro1181=)	dbSNP gnomAD v4
22	g.50721397C>T	CA325579177	SHANK3	c.3165C>T (p.Pro1055=) n.3749C>T c.2217C>T (p.Pro739=) c.1707C>T (p.Pro569=) c.2163C>T (n.2163C>T) c.3561C>T (p.Pro1187=) c.3543C>T (p.Pro1181=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721398G>A	CA515262265	SHANK3	c.3166G>A (p.Glu1056Lys) n.3750G>A c.2218G>A (p.Glu740Lys) c.1708G>A (p.Glu570Lys) c.2164G>A (n.2164G>A) c.3562G>A (p.Glu1188Lys) c.3544G>A (p.Glu1182Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721398G>C	CA515262266	SHANK3	c.3166G>C (p.Glu1056Gln) n.3750G>C c.2218G>C (p.Glu740Gln) c.1708G>C (p.Glu570Gln) c.2164G>C (n.2164G>C) c.3562G>C (p.Glu1188Gln) c.3544G>C (p.Glu1182Gln)	ClinVar
22	g.50721398G=	CA2411008215	SHANK3	c.3166G= (p.Glu1056=) n.3750G= c.2218G= (p.Glu740=) c.1708G= (p.Glu570=) c.2164G= (n.2164G=) c.3562G= (p.Glu1188=) c.3544G= (p.Glu1182=)
22	g.50721398G>T	CA515262267	SHANK3	c.3166G>T (p.Glu1056Ter) n.3750G>T c.2218G>T (p.Glu740Ter) c.1708G>T (p.Glu570Ter) c.2164G>T (n.2164G>T) c.3562G>T (p.Glu1188Ter) c.3544G>T (p.Glu1182Ter)
22	g.50721399A>C	CA515262268	SHANK3	c.3167A>C (p.Glu1056Ala) n.3751A>C c.2219A>C (p.Glu740Ala) c.1709A>C (p.Glu570Ala) c.2165A>C (n.2165A>C) c.3563A>C (p.Glu1188Ala) c.3545A>C (p.Glu1182Ala)
22	g.50721399A>G	CA515262269	SHANK3	c.3167A>G (p.Glu1056Gly) n.3751A>G c.2219A>G (p.Glu740Gly) c.1709A>G (p.Glu570Gly) c.2165A>G (n.2165A>G) c.3563A>G (p.Glu1188Gly) c.3545A>G (p.Glu1182Gly)
22	g.50721399A>T	CA515262270	SHANK3	c.3167A>T (p.Glu1056Val) n.3751A>T c.2219A>T (p.Glu740Val) c.1709A>T (p.Glu570Val) c.2165A>T (n.2165A>T) c.3563A>T (p.Glu1188Val) c.3545A>T (p.Glu1182Val)
22	g.50721400G>A	CA10326071	SHANK3	c.3168G>A (p.Glu1056=) n.3752G>A c.2220G>A (p.Glu740=) c.1710G>A (p.Glu570=) c.2166G>A (n.2166G>A) c.3564G>A (p.Glu1188=) c.3546G>A (p.Glu1182=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721400G>C	CA515262271	SHANK3	c.3168G>C (p.Glu1056Asp) n.3752G>C c.2220G>C (p.Glu740Asp) c.1710G>C (p.Glu570Asp) c.2166G>C (n.2166G>C) c.3564G>C (p.Glu1188Asp) c.3546G>C (p.Glu1182Asp)
22	g.50721400G=	CA2411008216	SHANK3	c.3168G= (p.Glu1056=) n.3752G= c.2220G= (p.Glu740=) c.1710G= (p.Glu570=) c.2166G= (n.2166G=) c.3564G= (p.Glu1188=) c.3546G= (p.Glu1182=)
22	g.50721400G>T	CA515262272	SHANK3	c.3168G>T (p.Glu1056Asp) n.3752G>T c.2220G>T (p.Glu740Asp) c.1710G>T (p.Glu570Asp) c.2166G>T (n.2166G>T) c.3564G>T (p.Glu1188Asp) c.3546G>T (p.Glu1182Asp)
22	g.50721401G>A	CA515262274	SHANK3	c.3169G>A (p.Asp1057Asn) n.3753G>A c.2221G>A (p.Asp741Asn) c.1711G>A (p.Asp571Asn) c.2167G>A (n.2167G>A) c.3565G>A (p.Asp1189Asn) c.3547G>A (p.Asp1183Asn)	ClinVar dbSNP gnomAD v4
22	g.50721401G>C	CA515262276	SHANK3	c.3169G>C (p.Asp1057His) n.3753G>C c.2221G>C (p.Asp741His) c.1711G>C (p.Asp571His) c.2167G>C (n.2167G>C) c.3565G>C (p.Asp1189His) c.3547G>C (p.Asp1183His)
22	g.50721401G=	CA2411008217	SHANK3	c.3169G= (p.Asp1057=) n.3753G= c.2221G= (p.Asp741=) c.1711G= (p.Asp571=) c.2167G= (n.2167G=) c.3565G= (p.Asp1189=) c.3547G= (p.Asp1183=)
22	g.50721401G>T	CA10326072	SHANK3	c.3169G>T (p.Asp1057Tyr) n.3753G>T c.2221G>T (p.Asp741Tyr) c.1711G>T (p.Asp571Tyr) c.2167G>T (n.2167G>T) c.3565G>T (p.Asp1189Tyr) c.3547G>T (p.Asp1183Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721402A>C	CA515262278	SHANK3	c.3170A>C (p.Asp1057Ala) n.3754A>C c.2222A>C (p.Asp741Ala) c.1712A>C (p.Asp571Ala) c.2168A>C (n.2168A>C) c.3566A>C (p.Asp1189Ala) c.3548A>C (p.Asp1183Ala)
22	g.50721402A>G	CA515262279	SHANK3	c.3170A>G (p.Asp1057Gly) n.3754A>G c.2222A>G (p.Asp741Gly) c.1712A>G (p.Asp571Gly) c.2168A>G (n.2168A>G) c.3566A>G (p.Asp1189Gly) c.3548A>G (p.Asp1183Gly)
22	g.50721402A>T	CA515262280	SHANK3	c.3170A>T (p.Asp1057Val) n.3754A>T c.2222A>T (p.Asp741Val) c.1712A>T (p.Asp571Val) c.2168A>T (n.2168A>T) c.3566A>T (p.Asp1189Val) c.3548A>T (p.Asp1183Val)
22	g.50721403C>A	CA515262282	SHANK3	c.3171C>A (p.Asp1057Glu) n.3755C>A c.2223C>A (p.Asp741Glu) c.1713C>A (p.Asp571Glu) c.2169C>A (n.2169C>A) c.3567C>A (p.Asp1189Glu) c.3549C>A (p.Asp1183Glu)	dbSNP
22	g.50721403C=	CA2411008219	SHANK3	c.3171C= (p.Asp1057=) n.3755C= c.2223C= (p.Asp741=) c.1713C= (p.Asp571=) c.2169C= (n.2169C=) c.3567C= (p.Asp1189=) c.3549C= (p.Asp1183=)
22	g.50721403C>G	CA515262281	SHANK3	c.3171C>G (p.Asp1057Glu) n.3755C>G c.2223C>G (p.Asp741Glu) c.1713C>G (p.Asp571Glu) c.2169C>G (n.2169C>G) c.3567C>G (p.Asp1189Glu) c.3549C>G (p.Asp1183Glu)
22	g.50721403C>T	CA10326073	SHANK3	c.3171C>T (p.Asp1057=) n.3755C>T c.2223C>T (p.Asp741=) c.1713C>T (p.Asp571=) c.2169C>T (n.2169C>T) c.3567C>T (p.Asp1189=) c.3549C>T (p.Asp1183=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721403_50721406delinsCAAG	CA2411008218	SHANK3	c.3171_3174delinsCAAG (p.Asp1057=) n.3755_3758delinsCAAG c.2223_2226delinsCAAG (p.Asp741=) c.1713_1716delinsCAAG (p.Asp571=) c.2169_2172delinsCAAG (n.2169_2172delinsCAAG) c.3567_3570delinsCAAG (p.Asp1189=) c.3549_3552delinsCAAG (p.Asp1183=)
22	g.50721404A=	CA2411008220	SHANK3	c.3172A= (p.Lys1058=) n.3756A= c.2224A= (p.Lys742=) c.1714A= (p.Lys572=) c.2170A= (n.2170A=) c.3568A= (p.Lys1190=) c.3550A= (p.Lys1184=)
22	g.50721404A>C	CA515262283	SHANK3	c.3172A>C (p.Lys1058Gln) n.3756A>C c.2224A>C (p.Lys742Gln) c.1714A>C (p.Lys572Gln) c.2170A>C (n.2170A>C) c.3568A>C (p.Lys1190Gln) c.3550A>C (p.Lys1184Gln)	dbSNP
22	g.50721404A>G	CA515262284	SHANK3	c.3172A>G (p.Lys1058Glu) n.3756A>G c.2224A>G (p.Lys742Glu) c.1714A>G (p.Lys572Glu) c.2170A>G (n.2170A>G) c.3568A>G (p.Lys1190Glu) c.3550A>G (p.Lys1184Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721404A>T	CA515262286	SHANK3	c.3172A>T (p.Lys1058Ter) n.3756A>T c.2224A>T (p.Lys742Ter) c.1714A>T (p.Lys572Ter) c.2170A>T (n.2170A>T) c.3568A>T (p.Lys1190Ter) c.3550A>T (p.Lys1184Ter)
22	g.50721407_50721409del	CA640359039	SHANK3	c.3175_3177del (p.Lys1059del) n.3759_3761del c.2227_2229del (p.Lys743del) c.1717_1719del (p.Lys573del) c.2173_2175del (n.2173_2175del) c.3571_3573del (p.Lys1191del) c.3553_3555del (p.Lys1185del)	dbSNP gnomAD v2
22	g.50721405A=	CA2411008221	SHANK3	c.3173A= (p.Lys1058=) n.3757A= c.2225A= (p.Lys742=) c.1715A= (p.Lys572=) c.2171A= (n.2171A=) c.3569A= (p.Lys1190=) c.3551A= (p.Lys1184=)
22	g.50721405A>C	CA515262288	SHANK3	c.3173A>C (p.Lys1058Thr) n.3757A>C c.2225A>C (p.Lys742Thr) c.1715A>C (p.Lys572Thr) c.2171A>C (n.2171A>C) c.3569A>C (p.Lys1190Thr) c.3551A>C (p.Lys1184Thr)
22	g.50721405A>G	CA10326074	SHANK3	c.3173A>G (p.Lys1058Arg) n.3757A>G c.2225A>G (p.Lys742Arg) c.1715A>G (p.Lys572Arg) c.2171A>G (n.2171A>G) c.3569A>G (p.Lys1190Arg) c.3551A>G (p.Lys1184Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721405A>T	CA515262289	SHANK3	c.3173A>T (p.Lys1058Met) n.3757A>T c.2225A>T (p.Lys742Met) c.1715A>T (p.Lys572Met) c.2171A>T (n.2171A>T) c.3569A>T (p.Lys1190Met) c.3551A>T (p.Lys1184Met)
22	g.50721406G>A	CA515262290	SHANK3	c.3174G>A (p.Lys1058=) n.3758G>A c.2226G>A (p.Lys742=) c.1716G>A (p.Lys572=) c.2172G>A (n.2172G>A) c.3570G>A (p.Lys1190=) c.3552G>A (p.Lys1184=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721406G>C	CA515262292	SHANK3	c.3174G>C (p.Lys1058Asn) n.3758G>C c.2226G>C (p.Lys742Asn) c.1716G>C (p.Lys572Asn) c.2172G>C (n.2172G>C) c.3570G>C (p.Lys1190Asn) c.3552G>C (p.Lys1184Asn)	COSMIC COSMIC
22	g.50721406G=	CA2411008222	SHANK3	c.3174G= (p.Lys1058=) n.3758G= c.2226G= (p.Lys742=) c.1716G= (p.Lys572=) c.2172G= (n.2172G=) c.3570G= (p.Lys1190=) c.3552G= (p.Lys1184=)
22	g.50721406G>T	CA515262291	SHANK3	c.3174G>T (p.Lys1058Asn) n.3758G>T c.2226G>T (p.Lys742Asn) c.1716G>T (p.Lys572Asn) c.2172G>T (n.2172G>T) c.3570G>T (p.Lys1190Asn) c.3552G>T (p.Lys1184Asn)
22	g.50721407A>C	CA515262294	SHANK3	c.3175A>C (p.Lys1059Gln) n.3759A>C c.2227A>C (p.Lys743Gln) c.1717A>C (p.Lys573Gln) c.2173A>C (n.2173A>C) c.3571A>C (p.Lys1191Gln) c.3553A>C (p.Lys1185Gln)
22	g.50721407A>G	CA515262295	SHANK3	c.3175A>G (p.Lys1059Glu) n.3759A>G c.2227A>G (p.Lys743Glu) c.1717A>G (p.Lys573Glu) c.2173A>G (n.2173A>G) c.3571A>G (p.Lys1191Glu) c.3553A>G (p.Lys1185Glu)
22	g.50721407A>T	CA515262296	SHANK3	c.3175A>T (p.Lys1059Ter) n.3759A>T c.2227A>T (p.Lys743Ter) c.1717A>T (p.Lys573Ter) c.2173A>T (n.2173A>T) c.3571A>T (p.Lys1191Ter) c.3553A>T (p.Lys1185Ter)
22	g.50721408A>C	CA515262297	SHANK3	c.3176A>C (p.Lys1059Thr) n.3760A>C c.2228A>C (p.Lys743Thr) c.1718A>C (p.Lys573Thr) c.2174A>C (n.2174A>C) c.3572A>C (p.Lys1191Thr) c.3554A>C (p.Lys1185Thr)
22	g.50721408A>G	CA515262298	SHANK3	c.3176A>G (p.Lys1059Arg) n.3760A>G c.2228A>G (p.Lys743Arg) c.1718A>G (p.Lys573Arg) c.2174A>G (n.2174A>G) c.3572A>G (p.Lys1191Arg) c.3554A>G (p.Lys1185Arg)
22	g.50721408A>T	CA515262299	SHANK3	c.3176A>T (p.Lys1059Met) n.3760A>T c.2228A>T (p.Lys743Met) c.1718A>T (p.Lys573Met) c.2174A>T (n.2174A>T) c.3572A>T (p.Lys1191Met) c.3554A>T (p.Lys1185Met)
22	g.50721409G>A	CA515262300	SHANK3	c.3177G>A (p.Lys1059=) n.3761G>A c.2229G>A (p.Lys743=) c.1719G>A (p.Lys573=) c.2175G>A (n.2175G>A) c.3573G>A (p.Lys1191=) c.3555G>A (p.Lys1185=)
22	g.50721409G>C	CA10326075	SHANK3	c.3177G>C (p.Lys1059Asn) n.3761G>C c.2229G>C (p.Lys743Asn) c.1719G>C (p.Lys573Asn) c.2175G>C (n.2175G>C) c.3573G>C (p.Lys1191Asn) c.3555G>C (p.Lys1185Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721409G=	CA2411008223	SHANK3	c.3177G= (p.Lys1059=) n.3761G= c.2229G= (p.Lys743=) c.1719G= (p.Lys573=) c.2175G= (n.2175G=) c.3573G= (p.Lys1191=) c.3555G= (p.Lys1185=)
22	g.50721409G>T	CA515262301	SHANK3	c.3177G>T (p.Lys1059Asn) n.3761G>T c.2229G>T (p.Lys743Asn) c.1719G>T (p.Lys573Asn) c.2175G>T (n.2175G>T) c.3573G>T (p.Lys1191Asn) c.3555G>T (p.Lys1185Asn)
22	g.50721410T>A	CA515262302	SHANK3	c.3178T>A (p.Ser1060Thr) n.3762T>A c.2230T>A (p.Ser744Thr) c.1720T>A (p.Ser574Thr) c.2176T>A (n.2176T>A) c.3574T>A (p.Ser1192Thr) c.3556T>A (p.Ser1186Thr)
22	g.50721410T>C	CA515262303	SHANK3	c.3178T>C (p.Ser1060Pro) n.3762T>C c.2230T>C (p.Ser744Pro) c.1720T>C (p.Ser574Pro) c.2176T>C (n.2176T>C) c.3574T>C (p.Ser1192Pro) c.3556T>C (p.Ser1186Pro)
22	g.50721410T>G	CA515262304	SHANK3	c.3178T>G (p.Ser1060Ala) n.3762T>G c.2230T>G (p.Ser744Ala) c.1720T>G (p.Ser574Ala) c.2176T>G (n.2176T>G) c.3574T>G (p.Ser1192Ala) c.3556T>G (p.Ser1186Ala)
22	g.50721411C>A	CA515262305	SHANK3	c.3179C>A (p.Ser1060Tyr) n.3763C>A c.2231C>A (p.Ser744Tyr) c.1721C>A (p.Ser574Tyr) c.2177C>A (n.2177C>A) c.3575C>A (p.Ser1192Tyr) c.3557C>A (p.Ser1186Tyr)
22	g.50721411C>G	CA515262307	SHANK3	c.3179C>G (p.Ser1060Cys) n.3763C>G c.2231C>G (p.Ser744Cys) c.1721C>G (p.Ser574Cys) c.2177C>G (n.2177C>G) c.3575C>G (p.Ser1192Cys) c.3557C>G (p.Ser1186Cys)
22	g.50721411C>T	CA515262306	SHANK3	c.3179C>T (p.Ser1060Phe) n.3763C>T c.2231C>T (p.Ser744Phe) c.1721C>T (p.Ser574Phe) c.2177C>T (n.2177C>T) c.3575C>T (p.Ser1192Phe) c.3557C>T (p.Ser1186Phe)
22	g.50721412C>A	CA515262308	SHANK3	c.3180C>A (p.Ser1060=) n.3764C>A c.2232C>A (p.Ser744=) c.1722C>A (p.Ser574=) c.2178C>A (n.2178C>A) c.3576C>A (p.Ser1192=) c.3558C>A (p.Ser1186=)
22	g.50721412C>G	CA515262309	SHANK3	c.3180C>G (p.Ser1060=) n.3764C>G c.2232C>G (p.Ser744=) c.1722C>G (p.Ser574=) c.2178C>G (n.2178C>G) c.3576C>G (p.Ser1192=) c.3558C>G (p.Ser1186=)
22	g.50721412C>T	CA515262311	SHANK3	c.3180C>T (p.Ser1060=) n.3764C>T c.2232C>T (p.Ser744=) c.1722C>T (p.Ser574=) c.2178C>T (n.2178C>T) c.3576C>T (p.Ser1192=) c.3558C>T (p.Ser1186=)	gnomAD v4
22	g.50721413A=	CA2411008224	SHANK3	c.3181A= (p.Met1061=) n.3765A= c.2233A= (p.Met745=) c.1723A= (p.Met575=) c.2179A= (n.2179A=) c.3577A= (p.Met1193=) c.3559A= (p.Met1187=)
22	g.50721413A>C	CA515262312	SHANK3	c.3181A>C (p.Met1061Leu) n.3765A>C c.2233A>C (p.Met745Leu) c.1723A>C (p.Met575Leu) c.2179A>C (n.2179A>C) c.3577A>C (p.Met1193Leu) c.3559A>C (p.Met1187Leu)
22	g.50721413A>G	CA10326076	SHANK3	c.3181A>G (p.Met1061Val) n.3765A>G c.2233A>G (p.Met745Val) c.1723A>G (p.Met575Val) c.2179A>G (n.2179A>G) c.3577A>G (p.Met1193Val) c.3559A>G (p.Met1187Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721413A>T	CA515262314	SHANK3	c.3181A>T (p.Met1061Leu) n.3765A>T c.2233A>T (p.Met745Leu) c.1723A>T (p.Met575Leu) c.2179A>T (n.2179A>T) c.3577A>T (p.Met1193Leu) c.3559A>T (p.Met1187Leu)
22	g.50721414T>A	CA515262316	SHANK3	c.3182T>A (p.Met1061Lys) n.3766T>A c.2234T>A (p.Met745Lys) c.1724T>A (p.Met575Lys) c.2180T>A (n.2180T>A) c.3578T>A (p.Met1193Lys) c.3560T>A (p.Met1187Lys)
22	g.50721414T>C	CA205748	SHANK3	c.3182T>C (p.Met1061Thr) n.3766T>C c.2234T>C (p.Met745Thr) c.1724T>C (p.Met575Thr) c.2180T>C (n.2180T>C) c.3578T>C (p.Met1193Thr) c.3560T>C (p.Met1187Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50721414T>G	CA515262315	SHANK3	c.3182T>G (p.Met1061Arg) n.3766T>G c.2234T>G (p.Met745Arg) c.1724T>G (p.Met575Arg) c.2180T>G (n.2180T>G) c.3578T>G (p.Met1193Arg) c.3560T>G (p.Met1187Arg)
22	g.50721414T=	CA2411008225	SHANK3	c.3182T= (p.Met1061=) n.3766T= c.2234T= (p.Met745=) c.1724T= (p.Met575=) c.2180T= (n.2180T=) c.3578T= (p.Met1193=) c.3560T= (p.Met1187=)
22	g.50721415G>A	CA515262318	SHANK3	c.3183G>A (p.Met1061Ile) n.3767G>A c.2235G>A (p.Met745Ile) c.1725G>A (p.Met575Ile) c.2181G>A (n.2181G>A) c.3579G>A (p.Met1193Ile) c.3561G>A (p.Met1187Ile)	dbSNP gnomAD v3 gnomAD v4
22	g.50721415G>C	CA515262319	SHANK3	c.3183G>C (p.Met1061Ile) n.3767G>C c.2235G>C (p.Met745Ile) c.1725G>C (p.Met575Ile) c.2181G>C (n.2181G>C) c.3579G>C (p.Met1193Ile) c.3561G>C (p.Met1187Ile)
22	g.50721415G=	CA2411008226	SHANK3	c.3183G= (p.Met1061=) n.3767G= c.2235G= (p.Met745=) c.1725G= (p.Met575=) c.2181G= (n.2181G=) c.3579G= (p.Met1193=) c.3561G= (p.Met1187=)
22	g.50721415G>T	CA515262320	SHANK3	c.3183G>T (p.Met1061Ile) n.3767G>T c.2235G>T (p.Met745Ile) c.1725G>T (p.Met575Ile) c.2181G>T (n.2181G>T) c.3579G>T (p.Met1193Ile) c.3561G>T (p.Met1187Ile)
22	g.50721416A=	CA2411008227	SHANK3	c.3184A= (p.Ile1062=) n.3768A= c.2236A= (p.Ile746=) c.1726A= (p.Ile576=) c.2182A= (n.2182A=) c.3580A= (p.Ile1194=) c.3562A= (p.Ile1188=)
22	g.50721416A>C	CA515262321	SHANK3	c.3184A>C (p.Ile1062Leu) n.3768A>C c.2236A>C (p.Ile746Leu) c.1726A>C (p.Ile576Leu) c.2182A>C (n.2182A>C) c.3580A>C (p.Ile1194Leu) c.3562A>C (p.Ile1188Leu)
22	g.50721416A>G	CA10326077	SHANK3	c.3184A>G (p.Ile1062Val) n.3768A>G c.2236A>G (p.Ile746Val) c.1726A>G (p.Ile576Val) c.2182A>G (n.2182A>G) c.3580A>G (p.Ile1194Val) c.3562A>G (p.Ile1188Val)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721416A>T	CA515262324	SHANK3	c.3184A>T (p.Ile1062Phe) n.3768A>T c.2236A>T (p.Ile746Phe) c.1726A>T (p.Ile576Phe) c.2182A>T (n.2182A>T) c.3580A>T (p.Ile1194Phe) c.3562A>T (p.Ile1188Phe)
22	g.50721417T>A	CA515262326	SHANK3	c.3185T>A (p.Ile1062Asn) n.3769T>A c.2237T>A (p.Ile746Asn) c.1727T>A (p.Ile576Asn) c.2183T>A (n.2183T>A) c.3581T>A (p.Ile1194Asn) c.3563T>A (p.Ile1188Asn)
22	g.50721417T>C	CA515262328	SHANK3	c.3185T>C (p.Ile1062Thr) n.3769T>C c.2237T>C (p.Ile746Thr) c.1727T>C (p.Ile576Thr) c.2183T>C (n.2183T>C) c.3581T>C (p.Ile1194Thr) c.3563T>C (p.Ile1188Thr)
22	g.50721417T>G	CA515262327	SHANK3	c.3185T>G (p.Ile1062Ser) n.3769T>G c.2237T>G (p.Ile746Ser) c.1727T>G (p.Ile576Ser) c.2183T>G (n.2183T>G) c.3581T>G (p.Ile1194Ser) c.3563T>G (p.Ile1188Ser)
22	g.50721418C>A	CA515262329	SHANK3	c.3186C>A (p.Ile1062=) n.3770C>A c.2238C>A (p.Ile746=) c.1728C>A (p.Ile576=) c.2184C>A (n.2184C>A) c.3582C>A (p.Ile1194=) c.3564C>A (p.Ile1188=)	dbSNP
22	g.50721418C=	CA2411008228	SHANK3	c.3186C= (p.Ile1062=) n.3770C= c.2238C= (p.Ile746=) c.1728C= (p.Ile576=) c.2184C= (n.2184C=) c.3582C= (p.Ile1194=) c.3564C= (p.Ile1188=)
22	g.50721418C>G	CA515262330	SHANK3	c.3186C>G (p.Ile1062Met) n.3770C>G c.2238C>G (p.Ile746Met) c.1728C>G (p.Ile576Met) c.2184C>G (n.2184C>G) c.3582C>G (p.Ile1194Met) c.3564C>G (p.Ile1188Met)	gnomAD v4
22	g.50721418C>T	CA10326078	SHANK3	c.3186C>T (p.Ile1062=) n.3770C>T c.2238C>T (p.Ile746=) c.1728C>T (p.Ile576=) c.2184C>T (n.2184C>T) c.3582C>T (p.Ile1194=) c.3564C>T (p.Ile1188=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721419C>A	CA515262331	SHANK3	c.3187C>A (p.Leu1063Ile) n.3771C>A c.2239C>A (p.Leu747Ile) c.1729C>A (p.Leu577Ile) c.2185C>A (n.2185C>A) c.3583C>A (p.Leu1195Ile) c.3565C>A (p.Leu1189Ile)
22	g.50721419C=	CA2411008229	SHANK3	c.3187C= (p.Leu1063=) n.3771C= c.2239C= (p.Leu747=) c.1729C= (p.Leu577=) c.2185C= (n.2185C=) c.3583C= (p.Leu1195=) c.3565C= (p.Leu1189=)
22	g.50721419C>G	CA515262332	SHANK3	c.3187C>G (p.Leu1063Val) n.3771C>G c.2239C>G (p.Leu747Val) c.1729C>G (p.Leu577Val) c.2185C>G (n.2185C>G) c.3583C>G (p.Leu1195Val) c.3565C>G (p.Leu1189Val)
22	g.50721419C>T	CA515262333	SHANK3	c.3187C>T (p.Leu1063Phe) n.3771C>T c.2239C>T (p.Leu747Phe) c.1729C>T (p.Leu577Phe) c.2185C>T (n.2185C>T) c.3583C>T (p.Leu1195Phe) c.3565C>T (p.Leu1189Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721420T>A	CA515262334	SHANK3	c.3188T>A (p.Leu1063His) n.3772T>A c.2240T>A (p.Leu747His) c.1730T>A (p.Leu577His) c.2186T>A (n.2186T>A) c.3584T>A (p.Leu1195His) c.3566T>A (p.Leu1189His)
22	g.50721420T>C	CA515262335	SHANK3	c.3188T>C (p.Leu1063Pro) n.3772T>C c.2240T>C (p.Leu747Pro) c.1730T>C (p.Leu577Pro) c.2186T>C (n.2186T>C) c.3584T>C (p.Leu1195Pro) c.3566T>C (p.Leu1189Pro)
22	g.50721420T>G	CA515262336	SHANK3	c.3188T>G (p.Leu1063Arg) n.3772T>G c.2240T>G (p.Leu747Arg) c.1730T>G (p.Leu577Arg) c.2186T>G (n.2186T>G) c.3584T>G (p.Leu1195Arg) c.3566T>G (p.Leu1189Arg)
22	g.50721421C>A	CA515262337	SHANK3	c.3189C>A (p.Leu1063=) n.3773C>A c.2241C>A (p.Leu747=) c.1731C>A (p.Leu577=) c.2187C>A (n.2187C>A) c.3585C>A (p.Leu1195=) c.3567C>A (p.Leu1189=)	dbSNP gnomAD v2
22	g.50721421C=	CA2411008230	SHANK3	c.3189C= (p.Leu1063=) n.3773C= c.2241C= (p.Leu747=) c.1731C= (p.Leu577=) c.2187C= (n.2187C=) c.3585C= (p.Leu1195=) c.3567C= (p.Leu1189=)
22	g.50721421C>G	CA515262338	SHANK3	c.3189C>G (p.Leu1063=) n.3773C>G c.2241C>G (p.Leu747=) c.1731C>G (p.Leu577=) c.2187C>G (n.2187C>G) c.3585C>G (p.Leu1195=) c.3567C>G (p.Leu1189=)
22	g.50721421C>T	CA515262339	SHANK3	c.3189C>T (p.Leu1063=) n.3773C>T c.2241C>T (p.Leu747=) c.1731C>T (p.Leu577=) c.2187C>T (n.2187C>T) c.3585C>T (p.Leu1195=) c.3567C>T (p.Leu1189=)	gnomAD v4
22	g.50721422A>C	CA515262340	SHANK3	c.3190A>C (p.Ser1064Arg) n.3774A>C c.2242A>C (p.Ser748Arg) c.1732A>C (p.Ser578Arg) c.2188A>C (n.2188A>C) c.3586A>C (p.Ser1196Arg) c.3568A>C (p.Ser1190Arg)	gnomAD v4
22	g.50721422A>G	CA515262344	SHANK3	c.3190A>G (p.Ser1064Gly) n.3774A>G c.2242A>G (p.Ser748Gly) c.1732A>G (p.Ser578Gly) c.2188A>G (n.2188A>G) c.3586A>G (p.Ser1196Gly) c.3568A>G (p.Ser1190Gly)	gnomAD v4
22	g.50721422A>T	CA515262342	SHANK3	c.3190A>T (p.Ser1064Cys) n.3774A>T c.2242A>T (p.Ser748Cys) c.1732A>T (p.Ser578Cys) c.2188A>T (n.2188A>T) c.3586A>T (p.Ser1196Cys) c.3568A>T (p.Ser1190Cys)
22	g.50721423G>A	CA515262345	SHANK3	c.3191G>A (p.Ser1064Asn) n.3775G>A c.2243G>A (p.Ser748Asn) c.1733G>A (p.Ser578Asn) c.2189G>A (n.2189G>A) c.3587G>A (p.Ser1196Asn) c.3569G>A (p.Ser1190Asn)
22	g.50721423G>C	CA515262347	SHANK3	c.3191G>C (p.Ser1064Thr) n.3775G>C c.2243G>C (p.Ser748Thr) c.1733G>C (p.Ser578Thr) c.2189G>C (n.2189G>C) c.3587G>C (p.Ser1196Thr) c.3569G>C (p.Ser1190Thr)
22	g.50721423G>T	CA515262348	SHANK3	c.3191G>T (p.Ser1064Ile) n.3775G>T c.2243G>T (p.Ser748Ile) c.1733G>T (p.Ser578Ile) c.2189G>T (n.2189G>T) c.3587G>T (p.Ser1196Ile) c.3569G>T (p.Ser1190Ile)
22	g.50721424C>A	CA515262349	SHANK3	c.3192C>A (p.Ser1064Arg) n.3776C>A c.2244C>A (p.Ser748Arg) c.1734C>A (p.Ser578Arg) c.2190C>A (n.2190C>A) c.3588C>A (p.Ser1196Arg) c.3570C>A (p.Ser1190Arg)
22	g.50721424C=	CA2411008231	SHANK3	c.3192C= (p.Ser1064=) n.3776C= c.2244C= (p.Ser748=) c.1734C= (p.Ser578=) c.2190C= (n.2190C=) c.3588C= (p.Ser1196=) c.3570C= (p.Ser1190=)
22	g.50721424C>G	CA515262350	SHANK3	c.3192C>G (p.Ser1064Arg) n.3776C>G c.2244C>G (p.Ser748Arg) c.1734C>G (p.Ser578Arg) c.2190C>G (n.2190C>G) c.3588C>G (p.Ser1196Arg) c.3570C>G (p.Ser1190Arg)
22	g.50721424C>T	CA10326079	SHANK3	c.3192C>T (p.Ser1064=) n.3776C>T c.2244C>T (p.Ser748=) c.1734C>T (p.Ser578=) c.2190C>T (n.2190C>T) c.3588C>T (p.Ser1196=) c.3570C>T (p.Ser1190=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721425G>A	CA515262351	SHANK3	c.3193G>A (p.Val1065Ile) n.3777G>A c.2245G>A (p.Val749Ile) c.1735G>A (p.Val579Ile) c.2191G>A (n.2191G>A) c.3589G>A (p.Val1197Ile) c.3571G>A (p.Val1191Ile)	dbSNP gnomAD v2 gnomAD v4
22	g.50721425G>C	CA515262352	SHANK3	c.3193G>C (p.Val1065Leu) n.3777G>C c.2245G>C (p.Val749Leu) c.1735G>C (p.Val579Leu) c.2191G>C (n.2191G>C) c.3589G>C (p.Val1197Leu) c.3571G>C (p.Val1191Leu)	gnomAD v4
22	g.50721425G=	CA2411008232	SHANK3	c.3193G= (p.Val1065=) n.3777G= c.2245G= (p.Val749=) c.1735G= (p.Val579=) c.2191G= (n.2191G=) c.3589G= (p.Val1197=) c.3571G= (p.Val1191=)
22	g.50721425G>T	CA515262353	SHANK3	c.3193G>T (p.Val1065Phe) n.3777G>T c.2245G>T (p.Val749Phe) c.1735G>T (p.Val579Phe) c.2191G>T (n.2191G>T) c.3589G>T (p.Val1197Phe) c.3571G>T (p.Val1191Phe)
22	g.50721426T>A	CA515262354	SHANK3	c.3194T>A (p.Val1065Asp) n.3778T>A c.2246T>A (p.Val749Asp) c.1736T>A (p.Val579Asp) c.2192T>A (n.2192T>A) c.3590T>A (p.Val1197Asp) c.3572T>A (p.Val1191Asp)
22	g.50721426T>C	CA515262355	SHANK3	c.3194T>C (p.Val1065Ala) n.3778T>C c.2246T>C (p.Val749Ala) c.1736T>C (p.Val579Ala) c.2192T>C (n.2192T>C) c.3590T>C (p.Val1197Ala) c.3572T>C (p.Val1191Ala)
22	g.50721426T>G	CA515262357	SHANK3	c.3194T>G (p.Val1065Gly) n.3778T>G c.2246T>G (p.Val749Gly) c.1736T>G (p.Val579Gly) c.2192T>G (n.2192T>G) c.3590T>G (p.Val1197Gly) c.3572T>G (p.Val1191Gly)
22	g.50721427C>A	CA515262359	SHANK3	c.3195C>A (p.Val1065=) n.3779C>A c.2247C>A (p.Val749=) c.1737C>A (p.Val579=) c.2193C>A (n.2193C>A) c.3591C>A (p.Val1197=) c.3573C>A (p.Val1191=)
22	g.50721427C=	CA2411008233	SHANK3	c.3195C= (p.Val1065=) n.3779C= c.2247C= (p.Val749=) c.1737C= (p.Val579=) c.2193C= (n.2193C=) c.3591C= (p.Val1197=) c.3573C= (p.Val1191=)
22	g.50721427C>G	CA515262358	SHANK3	c.3195C>G (p.Val1065=) n.3779C>G c.2247C>G (p.Val749=) c.1737C>G (p.Val579=) c.2193C>G (n.2193C>G) c.3591C>G (p.Val1197=) c.3573C>G (p.Val1191=)
22	g.50721427C>T	CA10326080	SHANK3	c.3195C>T (p.Val1065=) n.3779C>T c.2247C>T (p.Val749=) c.1737C>T (p.Val579=) c.2193C>T (n.2193C>T) c.3591C>T (p.Val1197=) c.3573C>T (p.Val1191=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721428C>A	CA515262360	SHANK3	c.3196C>A (p.Leu1066Met) n.3780C>A c.2248C>A (p.Leu750Met) c.1738C>A (p.Leu580Met) c.2194C>A (n.2194C>A) c.3592C>A (p.Leu1198Met) c.3574C>A (p.Leu1192Met)
22	g.50721428C=	CA2411008234	SHANK3	c.3196C= (p.Leu1066=) n.3780C= c.2248C= (p.Leu750=) c.1738C= (p.Leu580=) c.2194C= (n.2194C=) c.3592C= (p.Leu1198=) c.3574C= (p.Leu1192=)
22	g.50721428C>G	CA515262361	SHANK3	c.3196C>G (p.Leu1066Val) n.3780C>G c.2248C>G (p.Leu750Val) c.1738C>G (p.Leu580Val) c.2194C>G (n.2194C>G) c.3592C>G (p.Leu1198Val) c.3574C>G (p.Leu1192Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50721428C>T	CA515262362	SHANK3	c.3196C>T (p.Leu1066=) n.3780C>T c.2248C>T (p.Leu750=) c.1738C>T (p.Leu580=) c.2194C>T (n.2194C>T) c.3592C>T (p.Leu1198=) c.3574C>T (p.Leu1192=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721429T>A	CA515262363	SHANK3	c.3197T>A (p.Leu1066Gln) n.3781T>A c.2249T>A (p.Leu750Gln) c.1739T>A (p.Leu580Gln) c.2195T>A (n.2195T>A) c.3593T>A (p.Leu1198Gln) c.3575T>A (p.Leu1192Gln)
22	g.50721429T>C	CA515262364	SHANK3	c.3197T>C (p.Leu1066Pro) n.3781T>C c.2249T>C (p.Leu750Pro) c.1739T>C (p.Leu580Pro) c.2195T>C (n.2195T>C) c.3593T>C (p.Leu1198Pro) c.3575T>C (p.Leu1192Pro)
22	g.50721429T>G	CA515262366	SHANK3	c.3197T>G (p.Leu1066Arg) n.3781T>G c.2249T>G (p.Leu750Arg) c.1739T>G (p.Leu580Arg) c.2195T>G (n.2195T>G) c.3593T>G (p.Leu1198Arg) c.3575T>G (p.Leu1192Arg)
22	g.50721430G>A	CA515262369	SHANK3	c.3198G>A (p.Leu1066=) n.3782G>A c.2250G>A (p.Leu750=) c.1740G>A (p.Leu580=) c.2196G>A (n.2196G>A) c.3594G>A (p.Leu1198=) c.3576G>A (p.Leu1192=)	dbSNP
22	g.50721430G>C	CA515262371	SHANK3	c.3198G>C (p.Leu1066=) n.3782G>C c.2250G>C (p.Leu750=) c.1740G>C (p.Leu580=) c.2196G>C (n.2196G>C) c.3594G>C (p.Leu1198=) c.3576G>C (p.Leu1192=)
22	g.50721430G=	CA2411008235	SHANK3	c.3198G= (p.Leu1066=) n.3782G= c.2250G= (p.Leu750=) c.1740G= (p.Leu580=) c.2196G= (n.2196G=) c.3594G= (p.Leu1198=) c.3576G= (p.Leu1192=)
22	g.50721430G>T	CA515262373	SHANK3	c.3198G>T (p.Leu1066=) n.3782G>T c.2250G>T (p.Leu750=) c.1740G>T (p.Leu580=) c.2196G>T (n.2196G>T) c.3594G>T (p.Leu1198=) c.3576G>T (p.Leu1192=)
22	g.50721431G>A	CA515262374	SHANK3	c.3199G>A (p.Asp1067Asn) n.3783G>A c.2251G>A (p.Asp751Asn) c.1741G>A (p.Asp581Asn) c.2197G>A (n.2197G>A) c.3595G>A (p.Asp1199Asn) c.3577G>A (p.Asp1193Asn)	gnomAD v4
22	g.50721431G>C	CA515262375	SHANK3	c.3199G>C (p.Asp1067His) n.3783G>C c.2251G>C (p.Asp751His) c.1741G>C (p.Asp581His) c.2197G>C (n.2197G>C) c.3595G>C (p.Asp1199His) c.3577G>C (p.Asp1193His)	dbSNP gnomAD v2 gnomAD v4
22	g.50721431G=	CA2411008236	SHANK3	c.3199G= (p.Asp1067=) n.3783G= c.2251G= (p.Asp751=) c.1741G= (p.Asp581=) c.2197G= (n.2197G=) c.3595G= (p.Asp1199=) c.3577G= (p.Asp1193=)
22	g.50721431G>T	CA515262376	SHANK3	c.3199G>T (p.Asp1067Tyr) n.3783G>T c.2251G>T (p.Asp751Tyr) c.1741G>T (p.Asp581Tyr) c.2197G>T (n.2197G>T) c.3595G>T (p.Asp1199Tyr) c.3577G>T (p.Asp1193Tyr)
22	g.50721432A>C	CA515262377	SHANK3	c.3200A>C (p.Asp1067Ala) n.3784A>C c.2252A>C (p.Asp751Ala) c.1742A>C (p.Asp581Ala) c.2198A>C (n.2198A>C) c.3596A>C (p.Asp1199Ala) c.3578A>C (p.Asp1193Ala)
22	g.50721432A>G	CA515262381	SHANK3	c.3200A>G (p.Asp1067Gly) n.3784A>G c.2252A>G (p.Asp751Gly) c.1742A>G (p.Asp581Gly) c.2198A>G (n.2198A>G) c.3596A>G (p.Asp1199Gly) c.3578A>G (p.Asp1193Gly)	gnomAD v4
22	g.50721432A>T	CA515262380	SHANK3	c.3200A>T (p.Asp1067Val) n.3784A>T c.2252A>T (p.Asp751Val) c.1742A>T (p.Asp581Val) c.2198A>T (n.2198A>T) c.3596A>T (p.Asp1199Val) c.3578A>T (p.Asp1193Val)
22	g.50721433C>A	CA515262382	SHANK3	c.3201C>A (p.Asp1067Glu) n.3785C>A c.2253C>A (p.Asp751Glu) c.1743C>A (p.Asp581Glu) c.2199C>A (n.2199C>A) c.3597C>A (p.Asp1199Glu) c.3579C>A (p.Asp1193Glu)
22	g.50721433C=	CA2411008237	SHANK3	c.3201C= (p.Asp1067=) n.3785C= c.2253C= (p.Asp751=) c.1743C= (p.Asp581=) c.2199C= (n.2199C=) c.3597C= (p.Asp1199=) c.3579C= (p.Asp1193=)
22	g.50721433C>G	CA515262384	SHANK3	c.3201C>G (p.Asp1067Glu) n.3785C>G c.2253C>G (p.Asp751Glu) c.1743C>G (p.Asp581Glu) c.2199C>G (n.2199C>G) c.3597C>G (p.Asp1199Glu) c.3579C>G (p.Asp1193Glu)
22	g.50721433C>T	CA325579208	SHANK3	c.3201C>T (p.Asp1067=) n.3785C>T c.2253C>T (p.Asp751=) c.1743C>T (p.Asp581=) c.2199C>T (n.2199C>T) c.3597C>T (p.Asp1199=) c.3579C>T (p.Asp1193=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721433_50721434insGCTGC	CA2657580871	SHANK3	c.3201_3202insGCTGC (p.Thr1068AlafsTer?) n.3785_3786insGCTGC c.2253_2254insGCTGC (p.Thr752AlafsTer?) c.1743_1744insGCTGC (p.Thr582AlafsTer?) c.2199_2200insGCTGC (n.2199_2200insGCTGC) c.3597_3598insGCTGC (p.Thr1200AlafsTer?) c.3579_3580insGCTGC (p.Thr1194AlafsTer?)	gnomAD v4
22	g.50721434A>C	CA515262386	SHANK3	c.3202A>C (p.Thr1068Pro) n.3786A>C c.2254A>C (p.Thr752Pro) c.1744A>C (p.Thr582Pro) c.2200A>C (n.2200A>C) c.3598A>C (p.Thr1200Pro) c.3580A>C (p.Thr1194Pro)
22	g.50721434A>G	CA515262391	SHANK3	c.3202A>G (p.Thr1068Ala) n.3786A>G c.2254A>G (p.Thr752Ala) c.1744A>G (p.Thr582Ala) c.2200A>G (n.2200A>G) c.3598A>G (p.Thr1200Ala) c.3580A>G (p.Thr1194Ala)	gnomAD v4
22	g.50721434A>T	CA515262388	SHANK3	c.3202A>T (p.Thr1068Ser) n.3786A>T c.2254A>T (p.Thr752Ser) c.1744A>T (p.Thr582Ser) c.2200A>T (n.2200A>T) c.3598A>T (p.Thr1200Ser) c.3580A>T (p.Thr1194Ser)
22	g.50721434_50721435insG	CA2657580880	SHANK3	c.3202_3203insG (p.Thr1068SerfsTer?) n.3786_3787insG c.2254_2255insG (p.Thr752SerfsTer?) c.1744_1745insG (p.Thr582SerfsTer?) c.2200_2201insG (n.2200_2201insG) c.3598_3599insG (p.Thr1200SerfsTer?) c.3580_3581insG (p.Thr1194SerfsTer?)	gnomAD v4
22	g.50721435C>A	CA515262392	SHANK3	c.3203C>A (p.Thr1068Lys) n.3787C>A c.2255C>A (p.Thr752Lys) c.1745C>A (p.Thr582Lys) c.2201C>A (n.2201C>A) c.3599C>A (p.Thr1200Lys) c.3581C>A (p.Thr1194Lys)	gnomAD v4
22	g.50721435C>G	CA515262393	SHANK3	c.3203C>G (p.Thr1068Arg) n.3787C>G c.2255C>G (p.Thr752Arg) c.1745C>G (p.Thr582Arg) c.2201C>G (n.2201C>G) c.3599C>G (p.Thr1200Arg) c.3581C>G (p.Thr1194Arg)
22	g.50721435C>T	CA515262394	SHANK3	c.3203C>T (p.Thr1068Ile) n.3787C>T c.2255C>T (p.Thr752Ile) c.1745C>T (p.Thr582Ile) c.2201C>T (n.2201C>T) c.3599C>T (p.Thr1200Ile) c.3581C>T (p.Thr1194Ile)
22	g.50721436A=	CA2411008238	SHANK3	c.3204A= (p.Thr1068=) n.3788A= c.2256A= (p.Thr752=) c.1746A= (p.Thr582=) c.2202A= (n.2202A=) c.3600A= (p.Thr1200=) c.3582A= (p.Thr1194=)
22	g.50721436A>C	CA515262395	SHANK3	c.3204A>C (p.Thr1068=) n.3788A>C c.2256A>C (p.Thr752=) c.1746A>C (p.Thr582=) c.2202A>C (n.2202A>C) c.3600A>C (p.Thr1200=) c.3582A>C (p.Thr1194=)
22	g.50721436A>G	CA515262397	SHANK3	c.3204A>G (p.Thr1068=) n.3788A>G c.2256A>G (p.Thr752=) c.1746A>G (p.Thr582=) c.2202A>G (n.2202A>G) c.3600A>G (p.Thr1200=) c.3582A>G (p.Thr1194=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721436A>T	CA515262398	SHANK3	c.3204A>T (p.Thr1068=) n.3788A>T c.2256A>T (p.Thr752=) c.1746A>T (p.Thr582=) c.2202A>T (n.2202A>T) c.3600A>T (p.Thr1200=) c.3582A>T (p.Thr1194=)
22	g.50721437T>A	CA515262400	SHANK3	c.3205T>A (p.Ser1069Thr) n.3789T>A c.2257T>A (p.Ser753Thr) c.1747T>A (p.Ser583Thr) c.2203T>A (n.2203T>A) c.3601T>A (p.Ser1201Thr) c.3583T>A (p.Ser1195Thr)
22	g.50721437T>C	CA515262403	SHANK3	c.3205T>C (p.Ser1069Pro) n.3789T>C c.2257T>C (p.Ser753Pro) c.1747T>C (p.Ser583Pro) c.2203T>C (n.2203T>C) c.3601T>C (p.Ser1201Pro) c.3583T>C (p.Ser1195Pro)
22	g.50721437T>G	CA515262405	SHANK3	c.3205T>G (p.Ser1069Ala) n.3789T>G c.2257T>G (p.Ser753Ala) c.1747T>G (p.Ser583Ala) c.2203T>G (n.2203T>G) c.3601T>G (p.Ser1201Ala) c.3583T>G (p.Ser1195Ala)
22	g.50721438C>A	CA515262407	SHANK3	c.3206C>A (p.Ser1069Tyr) n.3790C>A c.2258C>A (p.Ser753Tyr) c.1748C>A (p.Ser583Tyr) c.2204C>A (n.2204C>A) c.3602C>A (p.Ser1201Tyr) c.3584C>A (p.Ser1195Tyr)
22	g.50721438C=	CA2411008239	SHANK3	c.3206C= (p.Ser1069=) n.3790C= c.2258C= (p.Ser753=) c.1748C= (p.Ser583=) c.2204C= (n.2204C=) c.3602C= (p.Ser1201=) c.3584C= (p.Ser1195=)
22	g.50721438C>G	CA325579213	SHANK3	c.3206C>G (p.Ser1069Cys) n.3790C>G c.2258C>G (p.Ser753Cys) c.1748C>G (p.Ser583Cys) c.2204C>G (n.2204C>G) c.3602C>G (p.Ser1201Cys) c.3584C>G (p.Ser1195Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.50721438C>T	CA515262408	SHANK3	c.3206C>T (p.Ser1069Phe) n.3790C>T c.2258C>T (p.Ser753Phe) c.1748C>T (p.Ser583Phe) c.2204C>T (n.2204C>T) c.3602C>T (p.Ser1201Phe) c.3584C>T (p.Ser1195Phe)
22	g.50721439C>A	CA515262409	SHANK3	c.3207C>A (p.Ser1069=) n.3791C>A c.2259C>A (p.Ser753=) c.1749C>A (p.Ser583=) c.2205C>A (n.2205C>A) c.3603C>A (p.Ser1201=) c.3585C>A (p.Ser1195=)
22	g.50721439C=	CA2411008240	SHANK3	c.3207C= (p.Ser1069=) n.3791C= c.2259C= (p.Ser753=) c.1749C= (p.Ser583=) c.2205C= (n.2205C=) c.3603C= (p.Ser1201=) c.3585C= (p.Ser1195=)
22	g.50721439C>G	CA515262411	SHANK3	c.3207C>G (p.Ser1069=) n.3791C>G c.2259C>G (p.Ser753=) c.1749C>G (p.Ser583=) c.2205C>G (n.2205C>G) c.3603C>G (p.Ser1201=) c.3585C>G (p.Ser1195=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721439C>T	CA515262410	SHANK3	c.3207C>T (p.Ser1069=) n.3791C>T c.2259C>T (p.Ser753=) c.1749C>T (p.Ser583=) c.2205C>T (n.2205C>T) c.3603C>T (p.Ser1201=) c.3585C>T (p.Ser1195=)	dbSNP gnomAD v4
22	g.50721440C>A	CA515262413	SHANK3	c.3208C>A (p.Leu1070Met) n.3792C>A c.2260C>A (p.Leu754Met) c.1750C>A (p.Leu584Met) c.2206C>A (n.2206C>A) c.3604C>A (p.Leu1202Met) c.3586C>A (p.Leu1196Met)
22	g.50721440C=	CA2411008241	SHANK3	c.3208C= (p.Leu1070=) n.3792C= c.2260C= (p.Leu754=) c.1750C= (p.Leu584=) c.2206C= (n.2206C=) c.3604C= (p.Leu1202=) c.3586C= (p.Leu1196=)
22	g.50721440C>G	CA515262415	SHANK3	c.3208C>G (p.Leu1070Val) n.3792C>G c.2260C>G (p.Leu754Val) c.1750C>G (p.Leu584Val) c.2206C>G (n.2206C>G) c.3604C>G (p.Leu1202Val) c.3586C>G (p.Leu1196Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50721440C>T	CA10326081	SHANK3	c.3208C>T (p.Leu1070=) n.3792C>T c.2260C>T (p.Leu754=) c.1750C>T (p.Leu584=) c.2206C>T (n.2206C>T) c.3604C>T (p.Leu1202=) c.3586C>T (p.Leu1196=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721441T>A	CA515262416	SHANK3	c.3209T>A (p.Leu1070Gln) n.3793T>A c.2261T>A (p.Leu754Gln) c.1751T>A (p.Leu584Gln) c.2207T>A (n.2207T>A) c.3605T>A (p.Leu1202Gln) c.3587T>A (p.Leu1196Gln)
22	g.50721441T>C	CA515262418	SHANK3	c.3209T>C (p.Leu1070Pro) n.3793T>C c.2261T>C (p.Leu754Pro) c.1751T>C (p.Leu584Pro) c.2207T>C (n.2207T>C) c.3605T>C (p.Leu1202Pro) c.3587T>C (p.Leu1196Pro)
22	g.50721441T>G	CA515262420	SHANK3	c.3209T>G (p.Leu1070Arg) n.3793T>G c.2261T>G (p.Leu754Arg) c.1751T>G (p.Leu584Arg) c.2207T>G (n.2207T>G) c.3605T>G (p.Leu1202Arg) c.3587T>G (p.Leu1196Arg)
22	g.50721442G>A	CA515262422	SHANK3	c.3210G>A (p.Leu1070=) n.3794G>A c.2262G>A (p.Leu754=) c.1752G>A (p.Leu584=) c.2208G>A (n.2208G>A) c.3606G>A (p.Leu1202=) c.3588G>A (p.Leu1196=)
22	g.50721442G>C	CA515262423	SHANK3	c.3210G>C (p.Leu1070=) n.3794G>C c.2262G>C (p.Leu754=) c.1752G>C (p.Leu584=) c.2208G>C (n.2208G>C) c.3606G>C (p.Leu1202=) c.3588G>C (p.Leu1196=)
22	g.50721442G>T	CA515262424	SHANK3	c.3210G>T (p.Leu1070=) n.3794G>T c.2262G>T (p.Leu754=) c.1752G>T (p.Leu584=) c.2208G>T (n.2208G>T) c.3606G>T (p.Leu1202=) c.3588G>T (p.Leu1196=)	gnomAD v4
22	g.50721443C>A	CA515262430	SHANK3	c.3211C>A (p.Gln1071Lys) n.3795C>A c.2263C>A (p.Gln755Lys) c.1753C>A (p.Gln585Lys) c.2209C>A (n.2209C>A) c.3607C>A (p.Gln1203Lys) c.3589C>A (p.Gln1197Lys)
22	g.50721443C>G	CA515262428	SHANK3	c.3211C>G (p.Gln1071Glu) n.3795C>G c.2263C>G (p.Gln755Glu) c.1753C>G (p.Gln585Glu) c.2209C>G (n.2209C>G) c.3607C>G (p.Gln1203Glu) c.3589C>G (p.Gln1197Glu)
22	g.50721443C>T	CA515262426	SHANK3	c.3211C>T (p.Gln1071Ter) n.3795C>T c.2263C>T (p.Gln755Ter) c.1753C>T (p.Gln585Ter) c.2209C>T (n.2209C>T) c.3607C>T (p.Gln1203Ter) c.3589C>T (p.Gln1197Ter)
22	g.50721444del	CA2825002894	SHANK3	c.3212del (p.Gln1071ArgfsTer?) n.3796del c.2264del (p.Gln755ArgfsTer?) c.1754del (p.Gln585ArgfsTer?) c.2210del (n.2210del) c.3608del (p.Gln1203ArgfsTer?) c.3590del (p.Gln1197ArgfsTer?)	ClinVar
22	g.50721444A=	CA2411008242	SHANK3	c.3212A= (p.Gln1071=) n.3796A= c.2264A= (p.Gln755=) c.1754A= (p.Gln585=) c.2210A= (n.2210A=) c.3608A= (p.Gln1203=) c.3590A= (p.Gln1197=)
22	g.50721444A>C	CA515262432	SHANK3	c.3212A>C (p.Gln1071Pro) n.3796A>C c.2264A>C (p.Gln755Pro) c.1754A>C (p.Gln585Pro) c.2210A>C (n.2210A>C) c.3608A>C (p.Gln1203Pro) c.3590A>C (p.Gln1197Pro)
22	g.50721444A>G	CA10326082	SHANK3	c.3212A>G (p.Gln1071Arg) n.3796A>G c.2264A>G (p.Gln755Arg) c.1754A>G (p.Gln585Arg) c.2210A>G (n.2210A>G) c.3608A>G (p.Gln1203Arg) c.3590A>G (p.Gln1197Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721444A>T	CA515262434	SHANK3	c.3212A>T (p.Gln1071Leu) n.3796A>T c.2264A>T (p.Gln755Leu) c.1754A>T (p.Gln585Leu) c.2210A>T (n.2210A>T) c.3608A>T (p.Gln1203Leu) c.3590A>T (p.Gln1197Leu)
22	g.50721445G>A	CA515262436	SHANK3	c.3213G>A (p.Gln1071=) n.3797G>A c.2265G>A (p.Gln755=) c.1755G>A (p.Gln585=) c.2211G>A (n.2211G>A) c.3609G>A (p.Gln1203=) c.3591G>A (p.Gln1197=)	gnomAD v4
22	g.50721445G>C	CA515262438	SHANK3	c.3213G>C (p.Gln1071His) n.3797G>C c.2265G>C (p.Gln755His) c.1755G>C (p.Gln585His) c.2211G>C (n.2211G>C) c.3609G>C (p.Gln1203His) c.3591G>C (p.Gln1197His)
22	g.50721445G>T	CA515262439	SHANK3	c.3213G>T (p.Gln1071His) n.3797G>T c.2265G>T (p.Gln755His) c.1755G>T (p.Gln585His) c.2211G>T (n.2211G>T) c.3609G>T (p.Gln1203His) c.3591G>T (p.Gln1197His)
22	g.50721446C>A	CA515262440	SHANK3	c.3214C>A (p.Arg1072=) n.3798C>A c.2266C>A (p.Arg756=) c.1756C>A (p.Arg586=) c.2212C>A (n.2212C>A) c.3610C>A (p.Arg1204=) c.3592C>A (p.Arg1198=)	dbSNP gnomAD v4
22	g.50721446C=	CA2411008243	SHANK3	c.3214C= (p.Arg1072=) n.3798C= c.2266C= (p.Arg756=) c.1756C= (p.Arg586=) c.2212C= (n.2212C=) c.3610C= (p.Arg1204=) c.3592C= (p.Arg1198=)
22	g.50721446C>G	CA515262442	SHANK3	c.3214C>G (p.Arg1072Gly) n.3798C>G c.2266C>G (p.Arg756Gly) c.1756C>G (p.Arg586Gly) c.2212C>G (n.2212C>G) c.3610C>G (p.Arg1204Gly) c.3592C>G (p.Arg1198Gly)	gnomAD v4
22	g.50721446C>T	CA515262443	SHANK3	c.3214C>T (p.Arg1072Trp) n.3798C>T c.2266C>T (p.Arg756Trp) c.1756C>T (p.Arg586Trp) c.2212C>T (n.2212C>T) c.3610C>T (p.Arg1204Trp) c.3592C>T (p.Arg1198Trp)	dbSNP COSMIC COSMIC
22	g.50721447G>A	CA515262444	SHANK3	c.3215G>A (p.Arg1072Gln) n.3799G>A c.2267G>A (p.Arg756Gln) c.1757G>A (p.Arg586Gln) c.2213G>A (n.2213G>A) c.3611G>A (p.Arg1204Gln) c.3593G>A (p.Arg1198Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721447G>C	CA515262446	SHANK3	c.3215G>C (p.Arg1072Pro) n.3799G>C c.2267G>C (p.Arg756Pro) c.1757G>C (p.Arg586Pro) c.2213G>C (n.2213G>C) c.3611G>C (p.Arg1204Pro) c.3593G>C (p.Arg1198Pro)
22	g.50721447G=	CA2411008244	SHANK3	c.3215G= (p.Arg1072=) n.3799G= c.2267G= (p.Arg756=) c.1757G= (p.Arg586=) c.2213G= (n.2213G=) c.3611G= (p.Arg1204=) c.3593G= (p.Arg1198=)
22	g.50721447G>T	CA515262447	SHANK3	c.3215G>T (p.Arg1072Leu) n.3799G>T c.2267G>T (p.Arg756Leu) c.1757G>T (p.Arg586Leu) c.2213G>T (n.2213G>T) c.3611G>T (p.Arg1204Leu) c.3593G>T (p.Arg1198Leu)
22	g.50721448G>A	CA515262451	SHANK3	c.3216G>A (p.Arg1072=) n.3800G>A c.2268G>A (p.Arg756=) c.1758G>A (p.Arg586=) c.2214G>A (n.2214G>A) c.3612G>A (p.Arg1204=) c.3594G>A (p.Arg1198=)	dbSNP gnomAD v4
22	g.50721448G>C	CA515262448	SHANK3	c.3216G>C (p.Arg1072=) n.3800G>C c.2268G>C (p.Arg756=) c.1758G>C (p.Arg586=) c.2214G>C (n.2214G>C) c.3612G>C (p.Arg1204=) c.3594G>C (p.Arg1198=)
22	g.50721448G=	CA2411008245	SHANK3	c.3216G= (p.Arg1072=) n.3800G= c.2268G= (p.Arg756=) c.1758G= (p.Arg586=) c.2214G= (n.2214G=) c.3612G= (p.Arg1204=) c.3594G= (p.Arg1198=)
22	g.50721448G>T	CA515262449	SHANK3	c.3216G>T (p.Arg1072=) n.3800G>T c.2268G>T (p.Arg756=) c.1758G>T (p.Arg586=) c.2214G>T (n.2214G>T) c.3612G>T (p.Arg1204=) c.3594G>T (p.Arg1198=)
22	g.50721449C>A	CA515262452	SHANK3	c.3217C>A (p.Pro1073Thr) n.3801C>A c.2269C>A (p.Pro757Thr) c.1759C>A (p.Pro587Thr) c.2215C>A (n.2215C>A) c.3613C>A (p.Pro1205Thr) c.3595C>A (p.Pro1199Thr)
22	g.50721449C=	CA2411008246	SHANK3	c.3217C= (p.Pro1073=) n.3801C= c.2269C= (p.Pro757=) c.1759C= (p.Pro587=) c.2215C= (n.2215C=) c.3613C= (p.Pro1205=) c.3595C= (p.Pro1199=)
22	g.50721449C>G	CA515262453	SHANK3	c.3217C>G (p.Pro1073Ala) n.3801C>G c.2269C>G (p.Pro757Ala) c.1759C>G (p.Pro587Ala) c.2215C>G (n.2215C>G) c.3613C>G (p.Pro1205Ala) c.3595C>G (p.Pro1199Ala)
22	g.50721449C>T	CA10326083	SHANK3	c.3217C>T (p.Pro1073Ser) n.3801C>T c.2269C>T (p.Pro757Ser) c.1759C>T (p.Pro587Ser) c.2215C>T (n.2215C>T) c.3613C>T (p.Pro1205Ser) c.3595C>T (p.Pro1199Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721450C>A	CA515262454	SHANK3	c.3218C>A (p.Pro1073Gln) n.3802C>A c.2270C>A (p.Pro757Gln) c.1760C>A (p.Pro587Gln) c.2216C>A (n.2216C>A) c.3614C>A (p.Pro1205Gln) c.3596C>A (p.Pro1199Gln)
22	g.50721450C>G	CA515262457	SHANK3	c.3218C>G (p.Pro1073Arg) n.3802C>G c.2270C>G (p.Pro757Arg) c.1760C>G (p.Pro587Arg) c.2216C>G (n.2216C>G) c.3614C>G (p.Pro1205Arg) c.3596C>G (p.Pro1199Arg)
22	g.50721450C>T	CA515262461	SHANK3	c.3218C>T (p.Pro1073Leu) n.3802C>T c.2270C>T (p.Pro757Leu) c.1760C>T (p.Pro587Leu) c.2216C>T (n.2216C>T) c.3614C>T (p.Pro1205Leu) c.3596C>T (p.Pro1199Leu)	gnomAD v4
22	g.50721451A=	CA2411008247	SHANK3	c.3219A= (p.Pro1073=) n.3803A= c.2271A= (p.Pro757=) c.1761A= (p.Pro587=) c.2217A= (n.2217A=) c.3615A= (p.Pro1205=) c.3597A= (p.Pro1199=)
22	g.50721451A>C	CA515262463	SHANK3	c.3219A>C (p.Pro1073=) n.3803A>C c.2271A>C (p.Pro757=) c.1761A>C (p.Pro587=) c.2217A>C (n.2217A>C) c.3615A>C (p.Pro1205=) c.3597A>C (p.Pro1199=)
22	g.50721451A>G	CA515262467	SHANK3	c.3219A>G (p.Pro1073=) n.3803A>G c.2271A>G (p.Pro757=) c.1761A>G (p.Pro587=) c.2217A>G (n.2217A>G) c.3615A>G (p.Pro1205=) c.3597A>G (p.Pro1199=)
22	g.50721451A>T	CA10326084	SHANK3	c.3219A>T (p.Pro1073=) n.3803A>T c.2271A>T (p.Pro757=) c.1761A>T (p.Pro587=) c.2217A>T (n.2217A>T) c.3615A>T (p.Pro1205=) c.3597A>T (p.Pro1199=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721452G>A	CA10326085	SHANK3	c.3220G>A (p.Ala1074Thr) n.3804G>A c.2272G>A (p.Ala758Thr) c.1762G>A (p.Ala588Thr) c.2218G>A (n.2218G>A) c.3616G>A (p.Ala1206Thr) c.3598G>A (p.Ala1200Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721452G>C	CA515262468	SHANK3	c.3220G>C (p.Ala1074Pro) n.3804G>C c.2272G>C (p.Ala758Pro) c.1762G>C (p.Ala588Pro) c.2218G>C (n.2218G>C) c.3616G>C (p.Ala1206Pro) c.3598G>C (p.Ala1200Pro)
22	g.50721452G=	CA2411008248	SHANK3	c.3220G= (p.Ala1074=) n.3804G= c.2272G= (p.Ala758=) c.1762G= (p.Ala588=) c.2218G= (n.2218G=) c.3616G= (p.Ala1206=) c.3598G= (p.Ala1200=)
22	g.50721452G>T	CA515262469	SHANK3	c.3220G>T (p.Ala1074Ser) n.3804G>T c.2272G>T (p.Ala758Ser) c.1762G>T (p.Ala588Ser) c.2218G>T (n.2218G>T) c.3616G>T (p.Ala1206Ser) c.3598G>T (p.Ala1200Ser)	gnomAD v4
22	g.50721453C>A	CA515262471	SHANK3	c.3221C>A (p.Ala1074Asp) n.3805C>A c.2273C>A (p.Ala758Asp) c.1763C>A (p.Ala588Asp) c.2219C>A (n.2219C>A) c.3617C>A (p.Ala1206Asp) c.3599C>A (p.Ala1200Asp)
22	g.50721453C=	CA2411008249	SHANK3	c.3221C= (p.Ala1074=) n.3805C= c.2273C= (p.Ala758=) c.1763C= (p.Ala588=) c.2219C= (n.2219C=) c.3617C= (p.Ala1206=) c.3599C= (p.Ala1200=)
22	g.50721453C>G	CA515262472	SHANK3	c.3221C>G (p.Ala1074Gly) n.3805C>G c.2273C>G (p.Ala758Gly) c.1763C>G (p.Ala588Gly) c.2219C>G (n.2219C>G) c.3617C>G (p.Ala1206Gly) c.3599C>G (p.Ala1200Gly)
22	g.50721453C>T	CA515262470	SHANK3	c.3221C>T (p.Ala1074Val) n.3805C>T c.2273C>T (p.Ala758Val) c.1763C>T (p.Ala588Val) c.2219C>T (n.2219C>T) c.3617C>T (p.Ala1206Val) c.3599C>T (p.Ala1200Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50721454T>A	CA515262473	SHANK3	c.3222T>A (p.Ala1074=) n.3806T>A c.2274T>A (p.Ala758=) c.1764T>A (p.Ala588=) c.2220T>A (n.2220T>A) c.3618T>A (p.Ala1206=) c.3600T>A (p.Ala1200=)
22	g.50721454T>C	CA515262475	SHANK3	c.3222T>C (p.Ala1074=) n.3806T>C c.2274T>C (p.Ala758=) c.1764T>C (p.Ala588=) c.2220T>C (n.2220T>C) c.3618T>C (p.Ala1206=) c.3600T>C (p.Ala1200=)
22	g.50721454T>G	CA10326086	SHANK3	c.3222T>G (p.Ala1074=) n.3806T>G c.2274T>G (p.Ala758=) c.1764T>G (p.Ala588=) c.2220T>G (n.2220T>G) c.3618T>G (p.Ala1206=) c.3600T>G (p.Ala1200=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721454T=	CA2411008250	SHANK3	c.3222T= (p.Ala1074=) n.3806T= c.2274T= (p.Ala758=) c.1764T= (p.Ala588=) c.2220T= (n.2220T=) c.3618T= (p.Ala1206=) c.3600T= (p.Ala1200=)
22	g.50721454_50721455delinsTG	CA2411008251	SHANK3	c.3222_3223delinsTG (p.Ala1074=) n.3806_3807delinsTG c.2274_2275delinsTG (p.Ala758=) c.1764_1765delinsTG (p.Ala588=) c.2220_2221delinsTG (n.2220_2221delinsTG) c.3618_3619delinsTG (p.Ala1206=) c.3600_3601delinsTG (p.Ala1200=)
22	g.50721455G>A	CA515262477	SHANK3	c.3223G>A (p.Gly1075Ser) n.3807G>A c.2275G>A (p.Gly759Ser) c.1765G>A (p.Gly589Ser) c.2221G>A (n.2221G>A) c.3619G>A (p.Gly1207Ser) c.3601G>A (p.Gly1201Ser)
22	g.50721455G>C	CA515262478	SHANK3	c.3223G>C (p.Gly1075Arg) n.3807G>C c.2275G>C (p.Gly759Arg) c.1765G>C (p.Gly589Arg) c.2221G>C (n.2221G>C) c.3619G>C (p.Gly1207Arg) c.3601G>C (p.Gly1201Arg)
22	g.50721455G>T	CA515262482	SHANK3	c.3223G>T (p.Gly1075Cys) n.3807G>T c.2275G>T (p.Gly759Cys) c.1765G>T (p.Gly589Cys) c.2221G>T (n.2221G>T) c.3619G>T (p.Gly1207Cys) c.3601G>T (p.Gly1201Cys)
22	g.50721456del	CA913190846	SHANK3	c.3224del (p.Gly1075AlafsTer?) n.3808del c.2276del (p.Gly759AlafsTer?) c.1766del (p.Gly589AlafsTer?) c.2222del (n.2222del) c.3620del (p.Gly1207AlafsTer?) c.3602del (p.Gly1201AlafsTer?)	ClinVar dbSNP
22	g.50721456G>A	CA515262485	SHANK3	c.3224G>A (p.Gly1075Asp) n.3808G>A c.2276G>A (p.Gly759Asp) c.1766G>A (p.Gly589Asp) c.2222G>A (n.2222G>A) c.3620G>A (p.Gly1207Asp) c.3602G>A (p.Gly1201Asp)	dbSNP gnomAD v3 gnomAD v4
22	g.50721456G>C	CA515262483	SHANK3	c.3224G>C (p.Gly1075Ala) n.3808G>C c.2276G>C (p.Gly759Ala) c.1766G>C (p.Gly589Ala) c.2222G>C (n.2222G>C) c.3620G>C (p.Gly1207Ala) c.3602G>C (p.Gly1201Ala)
22	g.50721456G=	CA2411008252	SHANK3	c.3224G= (p.Gly1075=) n.3808G= c.2276G= (p.Gly759=) c.1766G= (p.Gly589=) c.2222G= (n.2222G=) c.3620G= (p.Gly1207=) c.3602G= (p.Gly1201=)
22	g.50721456G>T	CA515262484	SHANK3	c.3224G>T (p.Gly1075Val) n.3808G>T c.2276G>T (p.Gly759Val) c.1766G>T (p.Gly589Val) c.2222G>T (n.2222G>T) c.3620G>T (p.Gly1207Val) c.3602G>T (p.Gly1201Val)
22	g.50721457C>A	CA10326087	SHANK3	c.3225C>A (p.Gly1075=) n.3809C>A c.2277C>A (p.Gly759=) c.1767C>A (p.Gly589=) c.2223C>A (n.2223C>A) c.3621C>A (p.Gly1207=) c.3603C>A (p.Gly1201=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721457C=	CA2411008253	SHANK3	c.3225C= (p.Gly1075=) n.3809C= c.2277C= (p.Gly759=) c.1767C= (p.Gly589=) c.2223C= (n.2223C=) c.3621C= (p.Gly1207=) c.3603C= (p.Gly1201=)
22	g.50721457C>G	CA515262487	SHANK3	c.3225C>G (p.Gly1075=) n.3809C>G c.2277C>G (p.Gly759=) c.1767C>G (p.Gly589=) c.2223C>G (n.2223C>G) c.3621C>G (p.Gly1207=) c.3603C>G (p.Gly1201=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721457C>T	CA515262488	SHANK3	c.3225C>T (p.Gly1075=) n.3809C>T c.2277C>T (p.Gly759=) c.1767C>T (p.Gly589=) c.2223C>T (n.2223C>T) c.3621C>T (p.Gly1207=) c.3603C>T (p.Gly1201=)	gnomAD v4
22	g.50721458C>A	CA515262489	SHANK3	c.3226C>A (p.Leu1076Ile) n.3810C>A c.2278C>A (p.Leu760Ile) c.1768C>A (p.Leu590Ile) c.2224C>A (n.2224C>A) c.3622C>A (p.Leu1208Ile) c.3604C>A (p.Leu1202Ile)	gnomAD v4
22	g.50721458C>G	CA515262492	SHANK3	c.3226C>G (p.Leu1076Val) n.3810C>G c.2278C>G (p.Leu760Val) c.1768C>G (p.Leu590Val) c.2224C>G (n.2224C>G) c.3622C>G (p.Leu1208Val) c.3604C>G (p.Leu1202Val)
22	g.50721458C>T	CA515262493	SHANK3	c.3226C>T (p.Leu1076Phe) n.3810C>T c.2278C>T (p.Leu760Phe) c.1768C>T (p.Leu590Phe) c.2224C>T (n.2224C>T) c.3622C>T (p.Leu1208Phe) c.3604C>T (p.Leu1202Phe)
22	g.50721459T>A	CA515262494	SHANK3	c.3227T>A (p.Leu1076His) n.3811T>A c.2279T>A (p.Leu760His) c.1769T>A (p.Leu590His) c.2225T>A (n.2225T>A) c.3623T>A (p.Leu1208His) c.3605T>A (p.Leu1202His)	gnomAD v4
22	g.50721459T>C	CA515262496	SHANK3	c.3227T>C (p.Leu1076Pro) n.3811T>C c.2279T>C (p.Leu760Pro) c.1769T>C (p.Leu590Pro) c.2225T>C (n.2225T>C) c.3623T>C (p.Leu1208Pro) c.3605T>C (p.Leu1202Pro)	gnomAD v4
22	g.50721459T>G	CA515262495	SHANK3	c.3227T>G (p.Leu1076Arg) n.3811T>G c.2279T>G (p.Leu760Arg) c.1769T>G (p.Leu590Arg) c.2225T>G (n.2225T>G) c.3623T>G (p.Leu1208Arg) c.3605T>G (p.Leu1202Arg)
22	g.50721460C>A	CA515262497	SHANK3	c.3228C>A (p.Leu1076=) n.3812C>A c.2280C>A (p.Leu760=) c.1770C>A (p.Leu590=) c.2226C>A (n.2226C>A) c.3624C>A (p.Leu1208=) c.3606C>A (p.Leu1202=)
22	g.50721460C=	CA2411008254	SHANK3	c.3228C= (p.Leu1076=) n.3812C= c.2280C= (p.Leu760=) c.1770C= (p.Leu590=) c.2226C= (n.2226C=) c.3624C= (p.Leu1208=) c.3606C= (p.Leu1202=)
22	g.50721460C>G	CA515262498	SHANK3	c.3228C>G (p.Leu1076=) n.3812C>G c.2280C>G (p.Leu760=) c.1770C>G (p.Leu590=) c.2226C>G (n.2226C>G) c.3624C>G (p.Leu1208=) c.3606C>G (p.Leu1202=)
22	g.50721460C>T	CA10326088	SHANK3	c.3228C>T (p.Leu1076=) n.3812C>T c.2280C>T (p.Leu760=) c.1770C>T (p.Leu590=) c.2226C>T (n.2226C>T) c.3624C>T (p.Leu1208=) c.3606C>T (p.Leu1202=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721461A>C	CA515262500	SHANK3	c.3229A>C (p.Ile1077Leu) n.3813A>C c.2281A>C (p.Ile761Leu) c.1771A>C (p.Ile591Leu) c.2227A>C (n.2227A>C) c.3625A>C (p.Ile1209Leu) c.3607A>C (p.Ile1203Leu)
22	g.50721461A>G	CA515262501	SHANK3	c.3229A>G (p.Ile1077Val) n.3813A>G c.2281A>G (p.Ile761Val) c.1771A>G (p.Ile591Val) c.2227A>G (n.2227A>G) c.3625A>G (p.Ile1209Val) c.3607A>G (p.Ile1203Val)
22	g.50721461A>T	CA515262502	SHANK3	c.3229A>T (p.Ile1077Phe) n.3813A>T c.2281A>T (p.Ile761Phe) c.1771A>T (p.Ile591Phe) c.2227A>T (n.2227A>T) c.3625A>T (p.Ile1209Phe) c.3607A>T (p.Ile1203Phe)
22	g.50721462T>A	CA515262503	SHANK3	c.3230T>A (p.Ile1077Asn) n.3814T>A c.2282T>A (p.Ile761Asn) c.1772T>A (p.Ile591Asn) c.2228T>A (n.2228T>A) c.3626T>A (p.Ile1209Asn) c.3608T>A (p.Ile1203Asn)
22	g.50721462T>C	CA515262504	SHANK3	c.3230T>C (p.Ile1077Thr) n.3814T>C c.2282T>C (p.Ile761Thr) c.1772T>C (p.Ile591Thr) c.2228T>C (n.2228T>C) c.3626T>C (p.Ile1209Thr) c.3608T>C (p.Ile1203Thr)	dbSNP gnomAD v3 gnomAD v4
22	g.50721462T>G	CA515262505	SHANK3	c.3230T>G (p.Ile1077Ser) n.3814T>G c.2282T>G (p.Ile761Ser) c.1772T>G (p.Ile591Ser) c.2228T>G (n.2228T>G) c.3626T>G (p.Ile1209Ser) c.3608T>G (p.Ile1203Ser)
22	g.50721462T=	CA2411008255	SHANK3	c.3230T= (p.Ile1077=) n.3814T= c.2282T= (p.Ile761=) c.1772T= (p.Ile591=) c.2228T= (n.2228T=) c.3626T= (p.Ile1209=) c.3608T= (p.Ile1203=)
22	g.50721463C>A	CA515262506	SHANK3	c.3231C>A (p.Ile1077=) n.3815C>A c.2283C>A (p.Ile761=) c.1773C>A (p.Ile591=) c.2229C>A (n.2229C>A) c.3627C>A (p.Ile1209=) c.3609C>A (p.Ile1203=)	gnomAD v4
22	g.50721463C=	CA2411008256	SHANK3	c.3231C= (p.Ile1077=) n.3815C= c.2283C= (p.Ile761=) c.1773C= (p.Ile591=) c.2229C= (n.2229C=) c.3627C= (p.Ile1209=) c.3609C= (p.Ile1203=)
22	g.50721463C>G	CA515262507	SHANK3	c.3231C>G (p.Ile1077Met) n.3815C>G c.2283C>G (p.Ile761Met) c.1773C>G (p.Ile591Met) c.2229C>G (n.2229C>G) c.3627C>G (p.Ile1209Met) c.3609C>G (p.Ile1203Met)
22	g.50721463C>T	CA10326089	SHANK3	c.3231C>T (p.Ile1077=) n.3815C>T c.2283C>T (p.Ile761=) c.1773C>T (p.Ile591=) c.2229C>T (n.2229C>T) c.3627C>T (p.Ile1209=) c.3609C>T (p.Ile1203=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721464G>A	CA515262515	SHANK3	c.3232G>A (p.Val1078Ile) n.3816G>A c.2284G>A (p.Val762Ile) c.1774G>A (p.Val592Ile) c.2230G>A (n.2230G>A) c.3628G>A (p.Val1210Ile) c.3610G>A (p.Val1204Ile)	dbSNP gnomAD v2 gnomAD v4
22	g.50721464G>C	CA515262518	SHANK3	c.3232G>C (p.Val1078Leu) n.3816G>C c.2284G>C (p.Val762Leu) c.1774G>C (p.Val592Leu) c.2230G>C (n.2230G>C) c.3628G>C (p.Val1210Leu) c.3610G>C (p.Val1204Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721464G=	CA2411008257	SHANK3	c.3232G= (p.Val1078=) n.3816G= c.2284G= (p.Val762=) c.1774G= (p.Val592=) c.2230G= (n.2230G=) c.3628G= (p.Val1210=) c.3610G= (p.Val1204=)
22	g.50721464G>T	CA515262517	SHANK3	c.3232G>T (p.Val1078Phe) n.3816G>T c.2284G>T (p.Val762Phe) c.1774G>T (p.Val592Phe) c.2230G>T (n.2230G>T) c.3628G>T (p.Val1210Phe) c.3610G>T (p.Val1204Phe)	dbSNP gnomAD v4 COSMIC COSMIC
22	g.50721465T>A	CA515262519	SHANK3	c.3233T>A (p.Val1078Asp) n.3817T>A c.2285T>A (p.Val762Asp) c.1775T>A (p.Val592Asp) c.2231T>A (n.2231T>A) c.3629T>A (p.Val1210Asp) c.3611T>A (p.Val1204Asp)
22	g.50721465T>C	CA515262520	SHANK3	c.3233T>C (p.Val1078Ala) n.3817T>C c.2285T>C (p.Val762Ala) c.1775T>C (p.Val592Ala) c.2231T>C (n.2231T>C) c.3629T>C (p.Val1210Ala) c.3611T>C (p.Val1204Ala)
22	g.50721465T>G	CA515262521	SHANK3	c.3233T>G (p.Val1078Gly) n.3817T>G c.2285T>G (p.Val762Gly) c.1775T>G (p.Val592Gly) c.2231T>G (n.2231T>G) c.3629T>G (p.Val1210Gly) c.3611T>G (p.Val1204Gly)
22	g.50721465T=	CA2411008258	SHANK3	c.3233T= (p.Val1078=) n.3817T= c.2285T= (p.Val762=) c.1775T= (p.Val592=) c.2231T= (n.2231T=) c.3629T= (p.Val1210=) c.3611T= (p.Val1204=)
22	g.50721465_50721466insG	CA1139667207	SHANK3	c.3233_3234insG (p.Val1079CysfsTer?) n.3817_3818insG c.2285_2286insG (p.Val763CysfsTer?) c.1775_1776insG (p.Val593CysfsTer?) c.2231_2232insG (n.2231_2232insG) c.3629_3630insG (p.Val1211CysfsTer?) c.3611_3612insG (p.Val1205CysfsTer?)	ClinVar dbSNP
22	g.50721466T>A	CA515262522	SHANK3	c.3234T>A (p.Val1078=) n.3818T>A c.2286T>A (p.Val762=) c.1776T>A (p.Val592=) c.2232T>A (n.2232T>A) c.3630T>A (p.Val1210=) c.3612T>A (p.Val1204=)
22	g.50721466T>C	CA515262523	SHANK3	c.3234T>C (p.Val1078=) n.3818T>C c.2286T>C (p.Val762=) c.1776T>C (p.Val592=) c.2232T>C (n.2232T>C) c.3630T>C (p.Val1210=) c.3612T>C (p.Val1204=)
22	g.50721466T>G	CA515262527	SHANK3	c.3234T>G (p.Val1078=) n.3818T>G c.2286T>G (p.Val762=) c.1776T>G (p.Val592=) c.2232T>G (n.2232T>G) c.3630T>G (p.Val1210=) c.3612T>G (p.Val1204=)

Number of alleles fetched