Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721322A=	CA2411008170	SHANK3	c.3090A= (p.Pro1030=) n.3674A= c.2142A= (p.Pro714=) c.1632A= (p.Pro544=) c.2088A= (n.2088A=) c.3486A= (p.Pro1162=) c.3468A= (p.Pro1156=)
22	g.50721322A>C	CA515261814	SHANK3	c.3090A>C (p.Pro1030=) n.3674A>C c.2142A>C (p.Pro714=) c.1632A>C (p.Pro544=) c.2088A>C (n.2088A>C) c.3486A>C (p.Pro1162=) c.3468A>C (p.Pro1156=)
22	g.50721322A>G	CA515261813	SHANK3	c.3090A>G (p.Pro1030=) n.3674A>G c.2142A>G (p.Pro714=) c.1632A>G (p.Pro544=) c.2088A>G (n.2088A>G) c.3486A>G (p.Pro1162=) c.3468A>G (p.Pro1156=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721322A>T	CA515261812	SHANK3	c.3090A>T (p.Pro1030=) n.3674A>T c.2142A>T (p.Pro714=) c.1632A>T (p.Pro544=) c.2088A>T (n.2088A>T) c.3486A>T (p.Pro1162=) c.3468A>T (p.Pro1156=)
22	g.50721323C>A	CA515261815	SHANK3	c.3091C>A (p.Arg1031=) n.3675C>A c.2143C>A (p.Arg715=) c.1633C>A (p.Arg545=) c.2089C>A (n.2089C>A) c.3487C>A (p.Arg1163=) c.3469C>A (p.Arg1157=)	gnomAD v4
22	g.50721323C=	CA2411008171	SHANK3	c.3091C= (p.Arg1031=) n.3675C= c.2143C= (p.Arg715=) c.1633C= (p.Arg545=) c.2089C= (n.2089C=) c.3487C= (p.Arg1163=) c.3469C= (p.Arg1157=)
22	g.50721323C>G	CA515261816	SHANK3	c.3091C>G (p.Arg1031Gly) n.3675C>G c.2143C>G (p.Arg715Gly) c.1633C>G (p.Arg545Gly) c.2089C>G (n.2089C>G) c.3487C>G (p.Arg1163Gly) c.3469C>G (p.Arg1157Gly)
22	g.50721323C>T	CA10326047	SHANK3	c.3091C>T (p.Arg1031Trp) n.3675C>T c.2143C>T (p.Arg715Trp) c.1633C>T (p.Arg545Trp) c.2089C>T (n.2089C>T) c.3487C>T (p.Arg1163Trp) c.3469C>T (p.Arg1157Trp)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50721324G>A	CA515261818	SHANK3	c.3092G>A (p.Arg1031Gln) n.3676G>A c.2144G>A (p.Arg715Gln) c.1634G>A (p.Arg545Gln) c.2090G>A (n.2090G>A) c.3488G>A (p.Arg1163Gln) c.3470G>A (p.Arg1157Gln)
22	g.50721324G>C	CA515261819	SHANK3	c.3092G>C (p.Arg1031Pro) n.3676G>C c.2144G>C (p.Arg715Pro) c.1634G>C (p.Arg545Pro) c.2090G>C (n.2090G>C) c.3488G>C (p.Arg1163Pro) c.3470G>C (p.Arg1157Pro)
22	g.50721324G>T	CA515261820	SHANK3	c.3092G>T (p.Arg1031Leu) n.3676G>T c.2144G>T (p.Arg715Leu) c.1634G>T (p.Arg545Leu) c.2090G>T (n.2090G>T) c.3488G>T (p.Arg1163Leu) c.3470G>T (p.Arg1157Leu)
22	g.50721325G>A	CA515261821	SHANK3	c.3093G>A (p.Arg1031=) n.3677G>A c.2145G>A (p.Arg715=) c.1635G>A (p.Arg545=) c.2091G>A (n.2091G>A) c.3489G>A (p.Arg1163=) c.3471G>A (p.Arg1157=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721325G>C	CA10326048	SHANK3	c.3093G>C (p.Arg1031=) n.3677G>C c.2145G>C (p.Arg715=) c.1635G>C (p.Arg545=) c.2091G>C (n.2091G>C) c.3489G>C (p.Arg1163=) c.3471G>C (p.Arg1157=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721325G=	CA2411008172	SHANK3	c.3093G= (p.Arg1031=) n.3677G= c.2145G= (p.Arg715=) c.1635G= (p.Arg545=) c.2091G= (n.2091G=) c.3489G= (p.Arg1163=) c.3471G= (p.Arg1157=)
22	g.50721325G>T	CA515261824	SHANK3	c.3093G>T (p.Arg1031=) n.3677G>T c.2145G>T (p.Arg715=) c.1635G>T (p.Arg545=) c.2091G>T (n.2091G>T) c.3489G>T (p.Arg1163=) c.3471G>T (p.Arg1157=)
22	g.50721326A>C	CA515261826	SHANK3	c.3094A>C (p.Ser1032Arg) n.3678A>C c.2146A>C (p.Ser716Arg) c.1636A>C (p.Ser546Arg) c.2092A>C (n.2092A>C) c.3490A>C (p.Ser1164Arg) c.3472A>C (p.Ser1158Arg)
22	g.50721326A>G	CA515261827	SHANK3	c.3094A>G (p.Ser1032Gly) n.3678A>G c.2146A>G (p.Ser716Gly) c.1636A>G (p.Ser546Gly) c.2092A>G (n.2092A>G) c.3490A>G (p.Ser1164Gly) c.3472A>G (p.Ser1158Gly)
22	g.50721326A>T	CA515261828	SHANK3	c.3094A>T (p.Ser1032Cys) n.3678A>T c.2146A>T (p.Ser716Cys) c.1636A>T (p.Ser546Cys) c.2092A>T (n.2092A>T) c.3490A>T (p.Ser1164Cys) c.3472A>T (p.Ser1158Cys)
22	g.50721327G>A	CA515261829	SHANK3	c.3095G>A (p.Ser1032Asn) n.3679G>A c.2147G>A (p.Ser716Asn) c.1637G>A (p.Ser546Asn) c.2093G>A (n.2093G>A) c.3491G>A (p.Ser1164Asn) c.3473G>A (p.Ser1158Asn)	dbSNP gnomAD v2 gnomAD v4
22	g.50721327G>C	CA515261831	SHANK3	c.3095G>C (p.Ser1032Thr) n.3679G>C c.2147G>C (p.Ser716Thr) c.1637G>C (p.Ser546Thr) c.2093G>C (n.2093G>C) c.3491G>C (p.Ser1164Thr) c.3473G>C (p.Ser1158Thr)
22	g.50721327G=	CA2411008173	SHANK3	c.3095G= (p.Ser1032=) n.3679G= c.2147G= (p.Ser716=) c.1637G= (p.Ser546=) c.2093G= (n.2093G=) c.3491G= (p.Ser1164=) c.3473G= (p.Ser1158=)
22	g.50721327G>T	CA515261830	SHANK3	c.3095G>T (p.Ser1032Ile) n.3679G>T c.2147G>T (p.Ser716Ile) c.1637G>T (p.Ser546Ile) c.2093G>T (n.2093G>T) c.3491G>T (p.Ser1164Ile) c.3473G>T (p.Ser1158Ile)	gnomAD v4
22	g.50721328C>A	CA515261834	SHANK3	c.3096C>A (p.Ser1032Arg) n.3680C>A c.2148C>A (p.Ser716Arg) c.1638C>A (p.Ser546Arg) c.2094C>A (n.2094C>A) c.3492C>A (p.Ser1164Arg) c.3474C>A (p.Ser1158Arg)
22	g.50721328C=	CA2411008174	SHANK3	c.3096C= (p.Ser1032=) n.3680C= c.2148C= (p.Ser716=) c.1638C= (p.Ser546=) c.2094C= (n.2094C=) c.3492C= (p.Ser1164=) c.3474C= (p.Ser1158=)
22	g.50721328C>G	CA325579007	SHANK3	c.3096C>G (p.Ser1032Arg) n.3680C>G c.2148C>G (p.Ser716Arg) c.1638C>G (p.Ser546Arg) c.2094C>G (n.2094C>G) c.3492C>G (p.Ser1164Arg) c.3474C>G (p.Ser1158Arg)	dbSNP gnomAD v4
22	g.50721328C>T	CA10326049	SHANK3	c.3096C>T (p.Ser1032=) n.3680C>T c.2148C>T (p.Ser716=) c.1638C>T (p.Ser546=) c.2094C>T (n.2094C>T) c.3492C>T (p.Ser1164=) c.3474C>T (p.Ser1158=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721329C>A	CA515261837	SHANK3	c.3097C>A (p.Pro1033Thr) n.3681C>A c.2149C>A (p.Pro717Thr) c.1639C>A (p.Pro547Thr) c.2095C>A (n.2095C>A) c.3493C>A (p.Pro1165Thr) c.3475C>A (p.Pro1159Thr)
22	g.50721329C>G	CA515261839	SHANK3	c.3097C>G (p.Pro1033Ala) n.3681C>G c.2149C>G (p.Pro717Ala) c.1639C>G (p.Pro547Ala) c.2095C>G (n.2095C>G) c.3493C>G (p.Pro1165Ala) c.3475C>G (p.Pro1159Ala)
22	g.50721329C>T	CA515261840	SHANK3	c.3097C>T (p.Pro1033Ser) n.3681C>T c.2149C>T (p.Pro717Ser) c.1639C>T (p.Pro547Ser) c.2095C>T (n.2095C>T) c.3493C>T (p.Pro1165Ser) c.3475C>T (p.Pro1159Ser)	gnomAD v4
22	g.50721330C>A	CA515261841	SHANK3	c.3098C>A (p.Pro1033Gln) n.3682C>A c.2150C>A (p.Pro717Gln) c.1640C>A (p.Pro547Gln) c.2096C>A (n.2096C>A) c.3494C>A (p.Pro1165Gln) c.3476C>A (p.Pro1159Gln)
22	g.50721330C>G	CA515261842	SHANK3	c.3098C>G (p.Pro1033Arg) n.3682C>G c.2150C>G (p.Pro717Arg) c.1640C>G (p.Pro547Arg) c.2096C>G (n.2096C>G) c.3494C>G (p.Pro1165Arg) c.3476C>G (p.Pro1159Arg)
22	g.50721330C>T	CA515261843	SHANK3	c.3098C>T (p.Pro1033Leu) n.3682C>T c.2150C>T (p.Pro717Leu) c.1640C>T (p.Pro547Leu) c.2096C>T (n.2096C>T) c.3494C>T (p.Pro1165Leu) c.3476C>T (p.Pro1159Leu)	gnomAD v4
22	g.50721331A=	CA2411008175	SHANK3	c.3099A= (p.Pro1033=) n.3683A= c.2151A= (p.Pro717=) c.1641A= (p.Pro547=) c.2097A= (n.2097A=) c.3495A= (p.Pro1165=) c.3477A= (p.Pro1159=)
22	g.50721331A>C	CA515261844	SHANK3	c.3099A>C (p.Pro1033=) n.3683A>C c.2151A>C (p.Pro717=) c.1641A>C (p.Pro547=) c.2097A>C (n.2097A>C) c.3495A>C (p.Pro1165=) c.3477A>C (p.Pro1159=)
22	g.50721331A>G	CA515261846	SHANK3	c.3099A>G (p.Pro1033=) n.3683A>G c.2151A>G (p.Pro717=) c.1641A>G (p.Pro547=) c.2097A>G (n.2097A>G) c.3495A>G (p.Pro1165=) c.3477A>G (p.Pro1159=)
22	g.50721331A>T	CA515261847	SHANK3	c.3099A>T (p.Pro1033=) n.3683A>T c.2151A>T (p.Pro717=) c.1641A>T (p.Pro547=) c.2097A>T (n.2097A>T) c.3495A>T (p.Pro1165=) c.3477A>T (p.Pro1159=)	dbSNP gnomAD v4
22	g.50721332G>A	CA515261848	SHANK3	c.3100G>A (p.Ala1034Thr) n.3684G>A c.2152G>A (p.Ala718Thr) c.1642G>A (p.Ala548Thr) c.2098G>A (n.2098G>A) c.3496G>A (p.Ala1166Thr) c.3478G>A (p.Ala1160Thr)	gnomAD v4
22	g.50721332G>C	CA515261850	SHANK3	c.3100G>C (p.Ala1034Pro) n.3684G>C c.2152G>C (p.Ala718Pro) c.1642G>C (p.Ala548Pro) c.2098G>C (n.2098G>C) c.3496G>C (p.Ala1166Pro) c.3478G>C (p.Ala1160Pro)	gnomAD v4
22	g.50721332G=	CA2411008176	SHANK3	c.3100G= (p.Ala1034=) n.3684G= c.2152G= (p.Ala718=) c.1642G= (p.Ala548=) c.2098G= (n.2098G=) c.3496G= (p.Ala1166=) c.3478G= (p.Ala1160=)
22	g.50721332G>T	CA515261851	SHANK3	c.3100G>T (p.Ala1034Ser) n.3684G>T c.2152G>T (p.Ala718Ser) c.1642G>T (p.Ala548Ser) c.2098G>T (n.2098G>T) c.3496G>T (p.Ala1166Ser) c.3478G>T (p.Ala1160Ser)	dbSNP gnomAD v4
22	g.50721333C>A	CA515261853	SHANK3	c.3101C>A (p.Ala1034Asp) n.3685C>A c.2153C>A (p.Ala718Asp) c.1643C>A (p.Ala548Asp) c.2099C>A (n.2099C>A) c.3497C>A (p.Ala1166Asp) c.3479C>A (p.Ala1160Asp)
22	g.50721333C=	CA2411008177	SHANK3	c.3101C= (p.Ala1034=) n.3685C= c.2153C= (p.Ala718=) c.1643C= (p.Ala548=) c.2099C= (n.2099C=) c.3497C= (p.Ala1166=) c.3479C= (p.Ala1160=)
22	g.50721333C>G	CA515261856	SHANK3	c.3101C>G (p.Ala1034Gly) n.3685C>G c.2153C>G (p.Ala718Gly) c.1643C>G (p.Ala548Gly) c.2099C>G (n.2099C>G) c.3497C>G (p.Ala1166Gly) c.3479C>G (p.Ala1160Gly)	dbSNP gnomAD v2 gnomAD v4
22	g.50721333C>T	CA515261854	SHANK3	c.3101C>T (p.Ala1034Val) n.3685C>T c.2153C>T (p.Ala718Val) c.1643C>T (p.Ala548Val) c.2099C>T (n.2099C>T) c.3497C>T (p.Ala1166Val) c.3479C>T (p.Ala1160Val)	dbSNP
22	g.50721334C>A	CA515261858	SHANK3	c.3102C>A (p.Ala1034=) n.3686C>A c.2154C>A (p.Ala718=) c.1644C>A (p.Ala548=) c.2100C>A (n.2100C>A) c.3498C>A (p.Ala1166=) c.3480C>A (p.Ala1160=)	COSMIC COSMIC
22	g.50721334C=	CA2411008178	SHANK3	c.3102C= (p.Ala1034=) n.3686C= c.2154C= (p.Ala718=) c.1644C= (p.Ala548=) c.2100C= (n.2100C=) c.3498C= (p.Ala1166=) c.3480C= (p.Ala1160=)
22	g.50721334C>G	CA515261859	SHANK3	c.3102C>G (p.Ala1034=) n.3686C>G c.2154C>G (p.Ala718=) c.1644C>G (p.Ala548=) c.2100C>G (n.2100C>G) c.3498C>G (p.Ala1166=) c.3480C>G (p.Ala1160=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721334C>T	CA10326050	SHANK3	c.3102C>T (p.Ala1034=) n.3686C>T c.2154C>T (p.Ala718=) c.1644C>T (p.Ala548=) c.2100C>T (n.2100C>T) c.3498C>T (p.Ala1166=) c.3480C>T (p.Ala1160=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721335T>A	CA515261861	SHANK3	c.3103T>A (p.Trp1035Arg) n.3687T>A c.2155T>A (p.Trp719Arg) c.1645T>A (p.Trp549Arg) c.2101T>A (n.2101T>A) c.3499T>A (p.Trp1167Arg) c.3481T>A (p.Trp1161Arg)
22	g.50721335T>C	CA515261863	SHANK3	c.3103T>C (p.Trp1035Arg) n.3687T>C c.2155T>C (p.Trp719Arg) c.1645T>C (p.Trp549Arg) c.2101T>C (n.2101T>C) c.3499T>C (p.Trp1167Arg) c.3481T>C (p.Trp1161Arg)
22	g.50721335T>G	CA515261864	SHANK3	c.3103T>G (p.Trp1035Gly) n.3687T>G c.2155T>G (p.Trp719Gly) c.1645T>G (p.Trp549Gly) c.2101T>G (n.2101T>G) c.3499T>G (p.Trp1167Gly) c.3481T>G (p.Trp1161Gly)
22	g.50721336G>A	CA515261865	SHANK3	c.3104G>A (p.Trp1035Ter) n.3688G>A c.2156G>A (p.Trp719Ter) c.1646G>A (p.Trp549Ter) c.2102G>A (n.2102G>A) c.3500G>A (p.Trp1167Ter) c.3482G>A (p.Trp1161Ter)
22	g.50721336G>C	CA515261866	SHANK3	c.3104G>C (p.Trp1035Ser) n.3688G>C c.2156G>C (p.Trp719Ser) c.1646G>C (p.Trp549Ser) c.2102G>C (n.2102G>C) c.3500G>C (p.Trp1167Ser) c.3482G>C (p.Trp1161Ser)	gnomAD v4
22	g.50721336G>T	CA515261867	SHANK3	c.3104G>T (p.Trp1035Leu) n.3688G>T c.2156G>T (p.Trp719Leu) c.1646G>T (p.Trp549Leu) c.2102G>T (n.2102G>T) c.3500G>T (p.Trp1167Leu) c.3482G>T (p.Trp1161Leu)
22	g.50721337G>A	CA515261871	SHANK3	c.3105G>A (p.Trp1035Ter) n.3689G>A c.2157G>A (p.Trp719Ter) c.1647G>A (p.Trp549Ter) c.2103G>A (n.2103G>A) c.3501G>A (p.Trp1167Ter) c.3483G>A (p.Trp1161Ter)
22	g.50721337G>C	CA515261872	SHANK3	c.3105G>C (p.Trp1035Cys) n.3689G>C c.2157G>C (p.Trp719Cys) c.1647G>C (p.Trp549Cys) c.2103G>C (n.2103G>C) c.3501G>C (p.Trp1167Cys) c.3483G>C (p.Trp1161Cys)
22	g.50721337G>T	CA515261869	SHANK3	c.3105G>T (p.Trp1035Cys) n.3689G>T c.2157G>T (p.Trp719Cys) c.1647G>T (p.Trp549Cys) c.2103G>T (n.2103G>T) c.3501G>T (p.Trp1167Cys) c.3483G>T (p.Trp1161Cys)
22	g.50721338A=	CA2411008179	SHANK3	c.3106A= (p.Ile1036=) n.3690A= c.2158A= (p.Ile720=) c.1648A= (p.Ile550=) c.2104A= (n.2104A=) c.3502A= (p.Ile1168=) c.3484A= (p.Ile1162=)
22	g.50721338A>C	CA515261873	SHANK3	c.3106A>C (p.Ile1036Leu) n.3690A>C c.2158A>C (p.Ile720Leu) c.1648A>C (p.Ile550Leu) c.2104A>C (n.2104A>C) c.3502A>C (p.Ile1168Leu) c.3484A>C (p.Ile1162Leu)	gnomAD v4
22	g.50721338A>G	CA515261874	SHANK3	c.3106A>G (p.Ile1036Val) n.3690A>G c.2158A>G (p.Ile720Val) c.1648A>G (p.Ile550Val) c.2104A>G (n.2104A>G) c.3502A>G (p.Ile1168Val) c.3484A>G (p.Ile1162Val)	dbSNP gnomAD v2
22	g.50721338A>T	CA515261875	SHANK3	c.3106A>T (p.Ile1036Phe) n.3690A>T c.2158A>T (p.Ile720Phe) c.1648A>T (p.Ile550Phe) c.2104A>T (n.2104A>T) c.3502A>T (p.Ile1168Phe) c.3484A>T (p.Ile1162Phe)
22	g.50721339T>A	CA515262068	SHANK3	c.3107T>A (p.Ile1036Asn) n.3691T>A c.2159T>A (p.Ile720Asn) c.1649T>A (p.Ile550Asn) c.2105T>A (n.2105T>A) c.3503T>A (p.Ile1168Asn) c.3485T>A (p.Ile1162Asn)
22	g.50721339T>C	CA515262069	SHANK3	c.3107T>C (p.Ile1036Thr) n.3691T>C c.2159T>C (p.Ile720Thr) c.1649T>C (p.Ile550Thr) c.2105T>C (n.2105T>C) c.3503T>C (p.Ile1168Thr) c.3485T>C (p.Ile1162Thr)
22	g.50721339T>G	CA515262070	SHANK3	c.3107T>G (p.Ile1036Ser) n.3691T>G c.2159T>G (p.Ile720Ser) c.1649T>G (p.Ile550Ser) c.2105T>G (n.2105T>G) c.3503T>G (p.Ile1168Ser) c.3485T>G (p.Ile1162Ser)
22	g.50721340T>A	CA515262071	SHANK3	c.3108T>A (p.Ile1036=) n.3692T>A c.2160T>A (p.Ile720=) c.1650T>A (p.Ile550=) c.2106T>A (n.2106T>A) c.3504T>A (p.Ile1168=) c.3486T>A (p.Ile1162=)
22	g.50721340T>C	CA515262072	SHANK3	c.3108T>C (p.Ile1036=) n.3692T>C c.2160T>C (p.Ile720=) c.1650T>C (p.Ile550=) c.2106T>C (n.2106T>C) c.3504T>C (p.Ile1168=) c.3486T>C (p.Ile1162=)	gnomAD v4
22	g.50721340T>G	CA515262073	SHANK3	c.3108T>G (p.Ile1036Met) n.3692T>G c.2160T>G (p.Ile720Met) c.1650T>G (p.Ile550Met) c.2106T>G (n.2106T>G) c.3504T>G (p.Ile1168Met) c.3486T>G (p.Ile1162Met)	dbSNP
22	g.50721340T=	CA2411008180	SHANK3	c.3108T= (p.Ile1036=) n.3692T= c.2160T= (p.Ile720=) c.1650T= (p.Ile550=) c.2106T= (n.2106T=) c.3504T= (p.Ile1168=) c.3486T= (p.Ile1162=)
22	g.50721341C>A	CA515262074	SHANK3	c.3109C>A (p.Pro1037Thr) n.3693C>A c.2161C>A (p.Pro721Thr) c.1651C>A (p.Pro551Thr) c.2107C>A (n.2107C>A) c.3505C>A (p.Pro1169Thr) c.3487C>A (p.Pro1163Thr)
22	g.50721341C>G	CA515262075	SHANK3	c.3109C>G (p.Pro1037Ala) n.3693C>G c.2161C>G (p.Pro721Ala) c.1651C>G (p.Pro551Ala) c.2107C>G (n.2107C>G) c.3505C>G (p.Pro1169Ala) c.3487C>G (p.Pro1163Ala)	gnomAD v4
22	g.50721341C>T	CA515262076	SHANK3	c.3109C>T (p.Pro1037Ser) n.3693C>T c.2161C>T (p.Pro721Ser) c.1651C>T (p.Pro551Ser) c.2107C>T (n.2107C>T) c.3505C>T (p.Pro1169Ser) c.3487C>T (p.Pro1163Ser)	gnomAD v4
22	g.50721342C>A	CA515262081	SHANK3	c.3110C>A (p.Pro1037His) n.3694C>A c.2162C>A (p.Pro721His) c.1652C>A (p.Pro551His) c.2108C>A (n.2108C>A) c.3506C>A (p.Pro1169His) c.3488C>A (p.Pro1163His)
22	g.50721342C>G	CA515262077	SHANK3	c.3110C>G (p.Pro1037Arg) n.3694C>G c.2162C>G (p.Pro721Arg) c.1652C>G (p.Pro551Arg) c.2108C>G (n.2108C>G) c.3506C>G (p.Pro1169Arg) c.3488C>G (p.Pro1163Arg)
22	g.50721342C>T	CA515262079	SHANK3	c.3110C>T (p.Pro1037Leu) n.3694C>T c.2162C>T (p.Pro721Leu) c.1652C>T (p.Pro551Leu) c.2108C>T (n.2108C>T) c.3506C>T (p.Pro1169Leu) c.3488C>T (p.Pro1163Leu)
22	g.50721343T>A	CA515262082	SHANK3	c.3111T>A (p.Pro1037=) n.3695T>A c.2163T>A (p.Pro721=) c.1653T>A (p.Pro551=) c.2109T>A (n.2109T>A) c.3507T>A (p.Pro1169=) c.3489T>A (p.Pro1163=)	gnomAD v4
22	g.50721343T>C	CA515262083	SHANK3	c.3111T>C (p.Pro1037=) n.3695T>C c.2163T>C (p.Pro721=) c.1653T>C (p.Pro551=) c.2109T>C (n.2109T>C) c.3507T>C (p.Pro1169=) c.3489T>C (p.Pro1163=)
22	g.50721343T>G	CA515262084	SHANK3	c.3111T>G (p.Pro1037=) n.3695T>G c.2163T>G (p.Pro721=) c.1653T>G (p.Pro551=) c.2109T>G (n.2109T>G) c.3507T>G (p.Pro1169=) c.3489T>G (p.Pro1163=)	gnomAD v4
22	g.50721344G>A	CA515262085	SHANK3	c.3112G>A (p.Val1038Met) n.3696G>A c.2164G>A (p.Val722Met) c.1654G>A (p.Val552Met) c.2110G>A (n.2110G>A) c.3508G>A (p.Val1170Met) c.3490G>A (p.Val1164Met)
22	g.50721344G>C	CA10326051	SHANK3	c.3112G>C (p.Val1038Leu) n.3696G>C c.2164G>C (p.Val722Leu) c.1654G>C (p.Val552Leu) c.2110G>C (n.2110G>C) c.3508G>C (p.Val1170Leu) c.3490G>C (p.Val1164Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721344G=	CA2411008181	SHANK3	c.3112G= (p.Val1038=) n.3696G= c.2164G= (p.Val722=) c.1654G= (p.Val552=) c.2110G= (n.2110G=) c.3508G= (p.Val1170=) c.3490G= (p.Val1164=)
22	g.50721344G>T	CA515262086	SHANK3	c.3112G>T (p.Val1038Leu) n.3696G>T c.2164G>T (p.Val722Leu) c.1654G>T (p.Val552Leu) c.2110G>T (n.2110G>T) c.3508G>T (p.Val1170Leu) c.3490G>T (p.Val1164Leu)
22	g.50721345T>A	CA515262087	SHANK3	c.3113T>A (p.Val1038Glu) n.3697T>A c.2165T>A (p.Val722Glu) c.1655T>A (p.Val552Glu) c.2111T>A (n.2111T>A) c.3509T>A (p.Val1170Glu) c.3491T>A (p.Val1164Glu)
22	g.50721345T>C	CA515262088	SHANK3	c.3113T>C (p.Val1038Ala) n.3697T>C c.2165T>C (p.Val722Ala) c.1655T>C (p.Val552Ala) c.2111T>C (n.2111T>C) c.3509T>C (p.Val1170Ala) c.3491T>C (p.Val1164Ala)
22	g.50721345T>G	CA515262089	SHANK3	c.3113T>G (p.Val1038Gly) n.3697T>G c.2165T>G (p.Val722Gly) c.1655T>G (p.Val552Gly) c.2111T>G (n.2111T>G) c.3509T>G (p.Val1170Gly) c.3491T>G (p.Val1164Gly)	gnomAD v4
22	g.50721346G>A	CA10326052	SHANK3	c.3114G>A (p.Val1038=) n.3698G>A c.2166G>A (p.Val722=) c.1656G>A (p.Val552=) c.2112G>A (n.2112G>A) c.3510G>A (p.Val1170=) c.3492G>A (p.Val1164=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721346G>C	CA10326054	SHANK3	c.3114G>C (p.Val1038=) n.3698G>C c.2166G>C (p.Val722=) c.1656G>C (p.Val552=) c.2112G>C (n.2112G>C) c.3510G>C (p.Val1170=) c.3492G>C (p.Val1164=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721346G=	CA2411008182	SHANK3	c.3114G= (p.Val1038=) n.3698G= c.2166G= (p.Val722=) c.1656G= (p.Val552=) c.2112G= (n.2112G=) c.3510G= (p.Val1170=) c.3492G= (p.Val1164=)
22	g.50721346G>T	CA10326053	SHANK3	c.3114G>T (p.Val1038=) n.3698G>T c.2166G>T (p.Val722=) c.1656G>T (p.Val552=) c.2112G>T (n.2112G>T) c.3510G>T (p.Val1170=) c.3492G>T (p.Val1164=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721347C>A	CA515262097	SHANK3	c.3115C>A (p.Pro1039Thr) n.3699C>A c.2167C>A (p.Pro723Thr) c.1657C>A (p.Pro553Thr) c.2113C>A (n.2113C>A) c.3511C>A (p.Pro1171Thr) c.3493C>A (p.Pro1165Thr)
22	g.50721347C=	CA2411008183	SHANK3	c.3115C= (p.Pro1039=) n.3699C= c.2167C= (p.Pro723=) c.1657C= (p.Pro553=) c.2113C= (n.2113C=) c.3511C= (p.Pro1171=) c.3493C= (p.Pro1165=)
22	g.50721347C>G	CA515262096	SHANK3	c.3115C>G (p.Pro1039Ala) n.3699C>G c.2167C>G (p.Pro723Ala) c.1657C>G (p.Pro553Ala) c.2113C>G (n.2113C>G) c.3511C>G (p.Pro1171Ala) c.3493C>G (p.Pro1165Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50721347C>T	CA515262093	SHANK3	c.3115C>T (p.Pro1039Ser) n.3699C>T c.2167C>T (p.Pro723Ser) c.1657C>T (p.Pro553Ser) c.2113C>T (n.2113C>T) c.3511C>T (p.Pro1171Ser) c.3493C>T (p.Pro1165Ser)	dbSNP
22	g.50721348C>A	CA515262099	SHANK3	c.3116C>A (p.Pro1039His) n.3700C>A c.2168C>A (p.Pro723His) c.1658C>A (p.Pro553His) c.2114C>A (n.2114C>A) c.3512C>A (p.Pro1171His) c.3494C>A (p.Pro1165His)
22	g.50721348C=	CA2411008184	SHANK3	c.3116C= (p.Pro1039=) n.3700C= c.2168C= (p.Pro723=) c.1658C= (p.Pro553=) c.2114C= (n.2114C=) c.3512C= (p.Pro1171=) c.3494C= (p.Pro1165=)
22	g.50721348C>G	CA515262101	SHANK3	c.3116C>G (p.Pro1039Arg) n.3700C>G c.2168C>G (p.Pro723Arg) c.1658C>G (p.Pro553Arg) c.2114C>G (n.2114C>G) c.3512C>G (p.Pro1171Arg) c.3494C>G (p.Pro1165Arg)
22	g.50721348C>T	CA515262100	SHANK3	c.3116C>T (p.Pro1039Leu) n.3700C>T c.2168C>T (p.Pro723Leu) c.1658C>T (p.Pro553Leu) c.2114C>T (n.2114C>T) c.3512C>T (p.Pro1171Leu) c.3494C>T (p.Pro1165Leu)	dbSNP gnomAD v4
22	g.50721349T>A	CA515262102	SHANK3	c.3117T>A (p.Pro1039=) n.3701T>A c.2169T>A (p.Pro723=) c.1659T>A (p.Pro553=) c.2115T>A (n.2115T>A) c.3513T>A (p.Pro1171=) c.3495T>A (p.Pro1165=)
22	g.50721349T>C	CA515262104	SHANK3	c.3117T>C (p.Pro1039=) n.3701T>C c.2169T>C (p.Pro723=) c.1659T>C (p.Pro553=) c.2115T>C (n.2115T>C) c.3513T>C (p.Pro1171=) c.3495T>C (p.Pro1165=)
22	g.50721349T>G	CA515262103	SHANK3	c.3117T>G (p.Pro1039=) n.3701T>G c.2169T>G (p.Pro723=) c.1659T>G (p.Pro553=) c.2115T>G (n.2115T>G) c.3513T>G (p.Pro1171=) c.3495T>G (p.Pro1165=)
22	g.50721350G>A	CA10326055	SHANK3	c.3118G>A (p.Ala1040Thr) n.3702G>A c.2170G>A (p.Ala724Thr) c.1660G>A (p.Ala554Thr) c.2116G>A (n.2116G>A) c.3514G>A (p.Ala1172Thr) c.3496G>A (p.Ala1166Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721350G>C	CA515262105	SHANK3	c.3118G>C (p.Ala1040Pro) n.3702G>C c.2170G>C (p.Ala724Pro) c.1660G>C (p.Ala554Pro) c.2116G>C (n.2116G>C) c.3514G>C (p.Ala1172Pro) c.3496G>C (p.Ala1166Pro)
22	g.50721350G=	CA2411008185	SHANK3	c.3118G= (p.Ala1040=) n.3702G= c.2170G= (p.Ala724=) c.1660G= (p.Ala554=) c.2116G= (n.2116G=) c.3514G= (p.Ala1172=) c.3496G= (p.Ala1166=)
22	g.50721350G>T	CA515262107	SHANK3	c.3118G>T (p.Ala1040Ser) n.3702G>T c.2170G>T (p.Ala724Ser) c.1660G>T (p.Ala554Ser) c.2116G>T (n.2116G>T) c.3514G>T (p.Ala1172Ser) c.3496G>T (p.Ala1166Ser)	dbSNP gnomAD v4
22	g.50721351C>A	CA515262108	SHANK3	c.3119C>A (p.Ala1040Asp) n.3703C>A c.2171C>A (p.Ala724Asp) c.1661C>A (p.Ala554Asp) c.2117C>A (n.2117C>A) c.3515C>A (p.Ala1172Asp) c.3497C>A (p.Ala1166Asp)	dbSNP
22	g.50721351C=	CA2411008186	SHANK3	c.3119C= (p.Ala1040=) n.3703C= c.2171C= (p.Ala724=) c.1661C= (p.Ala554=) c.2117C= (n.2117C=) c.3515C= (p.Ala1172=) c.3497C= (p.Ala1166=)
22	g.50721351C>G	CA515262109	SHANK3	c.3119C>G (p.Ala1040Gly) n.3703C>G c.2171C>G (p.Ala724Gly) c.1661C>G (p.Ala554Gly) c.2117C>G (n.2117C>G) c.3515C>G (p.Ala1172Gly) c.3497C>G (p.Ala1166Gly)	dbSNP gnomAD v4
22	g.50721351C>T	CA515262110	SHANK3	c.3119C>T (p.Ala1040Val) n.3703C>T c.2171C>T (p.Ala724Val) c.1661C>T (p.Ala554Val) c.2117C>T (n.2117C>T) c.3515C>T (p.Ala1172Val) c.3497C>T (p.Ala1166Val)	COSMIC COSMIC
22	g.50721352T>A	CA515262113	SHANK3	c.3120T>A (p.Ala1040=) n.3704T>A c.2172T>A (p.Ala724=) c.1662T>A (p.Ala554=) c.2118T>A (n.2118T>A) c.3516T>A (p.Ala1172=) c.3498T>A (p.Ala1166=)
22	g.50721352T>C	CA10326056	SHANK3	c.3120T>C (p.Ala1040=) n.3704T>C c.2172T>C (p.Ala724=) c.1662T>C (p.Ala554=) c.2118T>C (n.2118T>C) c.3516T>C (p.Ala1172=) c.3498T>C (p.Ala1166=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721352T>G	CA515262114	SHANK3	c.3120T>G (p.Ala1040=) n.3704T>G c.2172T>G (p.Ala724=) c.1662T>G (p.Ala554=) c.2118T>G (n.2118T>G) c.3516T>G (p.Ala1172=) c.3498T>G (p.Ala1166=)
22	g.50721352T=	CA2411008187	SHANK3	c.3120T= (p.Ala1040=) n.3704T= c.2172T= (p.Ala724=) c.1662T= (p.Ala554=) c.2118T= (n.2118T=) c.3516T= (p.Ala1172=) c.3498T= (p.Ala1166=)
22	g.50721353C>A	CA515262115	SHANK3	c.3121C>A (p.Arg1041Ser) n.3705C>A c.2173C>A (p.Arg725Ser) c.1663C>A (p.Arg555Ser) c.2119C>A (n.2119C>A) c.3517C>A (p.Arg1173Ser) c.3499C>A (p.Arg1167Ser)
22	g.50721353C=	CA2411008188	SHANK3	c.3121C= (p.Arg1041=) n.3705C= c.2173C= (p.Arg725=) c.1663C= (p.Arg555=) c.2119C= (n.2119C=) c.3517C= (p.Arg1173=) c.3499C= (p.Arg1167=)
22	g.50721353C>G	CA515262116	SHANK3	c.3121C>G (p.Arg1041Gly) n.3705C>G c.2173C>G (p.Arg725Gly) c.1663C>G (p.Arg555Gly) c.2119C>G (n.2119C>G) c.3517C>G (p.Arg1173Gly) c.3499C>G (p.Arg1167Gly)	gnomAD v4
22	g.50721353C>T	CA515262117	SHANK3	c.3121C>T (p.Arg1041Cys) n.3705C>T c.2173C>T (p.Arg725Cys) c.1663C>T (p.Arg555Cys) c.2119C>T (n.2119C>T) c.3517C>T (p.Arg1173Cys) c.3499C>T (p.Arg1167Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.50721354G>A	CA515262118	SHANK3	c.3122G>A (p.Arg1041His) n.3706G>A c.2174G>A (p.Arg725His) c.1664G>A (p.Arg555His) c.2120G>A (n.2120G>A) c.3518G>A (p.Arg1173His) c.3500G>A (p.Arg1167His)	dbSNP gnomAD v4
22	g.50721354G>C	CA10326057	SHANK3	c.3122G>C (p.Arg1041Pro) n.3706G>C c.2174G>C (p.Arg725Pro) c.1664G>C (p.Arg555Pro) c.2120G>C (n.2120G>C) c.3518G>C (p.Arg1173Pro) c.3500G>C (p.Arg1167Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721354G=	CA2411008189	SHANK3	c.3122G= (p.Arg1041=) n.3706G= c.2174G= (p.Arg725=) c.1664G= (p.Arg555=) c.2120G= (n.2120G=) c.3518G= (p.Arg1173=) c.3500G= (p.Arg1167=)
22	g.50721354G>T	CA515262119	SHANK3	c.3122G>T (p.Arg1041Leu) n.3706G>T c.2174G>T (p.Arg725Leu) c.1664G>T (p.Arg555Leu) c.2120G>T (n.2120G>T) c.3518G>T (p.Arg1173Leu) c.3500G>T (p.Arg1167Leu)	dbSNP gnomAD v4
22	g.50721355C>A	CA515262120	SHANK3	c.3123C>A (p.Arg1041=) n.3707C>A c.2175C>A (p.Arg725=) c.1665C>A (p.Arg555=) c.2121C>A (n.2121C>A) c.3519C>A (p.Arg1173=) c.3501C>A (p.Arg1167=)
22	g.50721355C=	CA2411008190	SHANK3	c.3123C= (p.Arg1041=) n.3707C= c.2175C= (p.Arg725=) c.1665C= (p.Arg555=) c.2121C= (n.2121C=) c.3519C= (p.Arg1173=) c.3501C= (p.Arg1167=)
22	g.50721355C>G	CA515262121	SHANK3	c.3123C>G (p.Arg1041=) n.3707C>G c.2175C>G (p.Arg725=) c.1665C>G (p.Arg555=) c.2121C>G (n.2121C>G) c.3519C>G (p.Arg1173=) c.3501C>G (p.Arg1167=)	gnomAD v4
22	g.50721355C>T	CA515262122	SHANK3	c.3123C>T (p.Arg1041=) n.3707C>T c.2175C>T (p.Arg725=) c.1665C>T (p.Arg555=) c.2121C>T (n.2121C>T) c.3519C>T (p.Arg1173=) c.3501C>T (p.Arg1167=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721356A>C	CA515262123	SHANK3	c.3124A>C (p.Arg1042=) n.3708A>C c.2176A>C (p.Arg726=) c.1666A>C (p.Arg556=) c.2122A>C (n.2122A>C) c.3520A>C (p.Arg1174=) c.3502A>C (p.Arg1168=)
22	g.50721356A>G	CA515262124	SHANK3	c.3124A>G (p.Arg1042Gly) n.3708A>G c.2176A>G (p.Arg726Gly) c.1666A>G (p.Arg556Gly) c.2122A>G (n.2122A>G) c.3520A>G (p.Arg1174Gly) c.3502A>G (p.Arg1168Gly)
22	g.50721356A>T	CA515262125	SHANK3	c.3124A>T (p.Arg1042Trp) n.3708A>T c.2176A>T (p.Arg726Trp) c.1666A>T (p.Arg556Trp) c.2122A>T (n.2122A>T) c.3520A>T (p.Arg1174Trp) c.3502A>T (p.Arg1168Trp)
22	g.50721357G>A	CA515262126	SHANK3	c.3125G>A (p.Arg1042Lys) n.3709G>A c.2177G>A (p.Arg726Lys) c.1667G>A (p.Arg556Lys) c.2123G>A (n.2123G>A) c.3521G>A (p.Arg1174Lys) c.3503G>A (p.Arg1168Lys)
22	g.50721357G>C	CA515262128	SHANK3	c.3125G>C (p.Arg1042Thr) n.3709G>C c.2177G>C (p.Arg726Thr) c.1667G>C (p.Arg556Thr) c.2123G>C (n.2123G>C) c.3521G>C (p.Arg1174Thr) c.3503G>C (p.Arg1168Thr)
22	g.50721357G>T	CA515262129	SHANK3	c.3125G>T (p.Arg1042Met) n.3709G>T c.2177G>T (p.Arg726Met) c.1667G>T (p.Arg556Met) c.2123G>T (n.2123G>T) c.3521G>T (p.Arg1174Met) c.3503G>T (p.Arg1168Met)
22	g.50721358G>A	CA515262131	SHANK3	c.3126G>A (p.Arg1042=) n.3710G>A c.2178G>A (p.Arg726=) c.1668G>A (p.Arg556=) c.2124G>A (n.2124G>A) c.3522G>A (p.Arg1174=) c.3504G>A (p.Arg1168=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721358G>C	CA515262132	SHANK3	c.3126G>C (p.Arg1042Ser) n.3710G>C c.2178G>C (p.Arg726Ser) c.1668G>C (p.Arg556Ser) c.2124G>C (n.2124G>C) c.3522G>C (p.Arg1174Ser) c.3504G>C (p.Arg1168Ser)
22	g.50721358G=	CA2411008191	SHANK3	c.3126G= (p.Arg1042=) n.3710G= c.2178G= (p.Arg726=) c.1668G= (p.Arg556=) c.2124G= (n.2124G=) c.3522G= (p.Arg1174=) c.3504G= (p.Arg1168=)
22	g.50721358G>T	CA515262130	SHANK3	c.3126G>T (p.Arg1042Ser) n.3710G>T c.2178G>T (p.Arg726Ser) c.1668G>T (p.Arg556Ser) c.2124G>T (n.2124G>T) c.3522G>T (p.Arg1174Ser) c.3504G>T (p.Arg1168Ser)
22	g.50721359G>A	CA515262133	SHANK3	c.3127G>A (p.Glu1043Lys) n.3711G>A c.2179G>A (p.Glu727Lys) c.1669G>A (p.Glu557Lys) c.2125G>A (n.2125G>A) c.3523G>A (p.Glu1175Lys) c.3505G>A (p.Glu1169Lys)
22	g.50721359G>C	CA515262134	SHANK3	c.3127G>C (p.Glu1043Gln) n.3711G>C c.2179G>C (p.Glu727Gln) c.1669G>C (p.Glu557Gln) c.2125G>C (n.2125G>C) c.3523G>C (p.Glu1175Gln) c.3505G>C (p.Glu1169Gln)
22	g.50721359G>T	CA515262136	SHANK3	c.3127G>T (p.Glu1043Ter) n.3711G>T c.2179G>T (p.Glu727Ter) c.1669G>T (p.Glu557Ter) c.2125G>T (n.2125G>T) c.3523G>T (p.Glu1175Ter) c.3505G>T (p.Glu1169Ter)
22	g.50721360A>C	CA515262137	SHANK3	c.3128A>C (p.Glu1043Ala) n.3712A>C c.2180A>C (p.Glu727Ala) c.1670A>C (p.Glu557Ala) c.2126A>C (n.2126A>C) c.3524A>C (p.Glu1175Ala) c.3506A>C (p.Glu1169Ala)
22	g.50721360A>G	CA515262138	SHANK3	c.3128A>G (p.Glu1043Gly) n.3712A>G c.2180A>G (p.Glu727Gly) c.1670A>G (p.Glu557Gly) c.2126A>G (n.2126A>G) c.3524A>G (p.Glu1175Gly) c.3506A>G (p.Glu1169Gly)
22	g.50721360A>T	CA515262139	SHANK3	c.3128A>T (p.Glu1043Val) n.3712A>T c.2180A>T (p.Glu727Val) c.1670A>T (p.Glu557Val) c.2126A>T (n.2126A>T) c.3524A>T (p.Glu1175Val) c.3506A>T (p.Glu1169Val)
22	g.50721361G>A	CA515262141	SHANK3	c.3129G>A (p.Glu1043=) n.3713G>A c.2181G>A (p.Glu727=) c.1671G>A (p.Glu557=) c.2127G>A (n.2127G>A) c.3525G>A (p.Glu1175=) c.3507G>A (p.Glu1169=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721361G>C	CA515262143	SHANK3	c.3129G>C (p.Glu1043Asp) n.3713G>C c.2181G>C (p.Glu727Asp) c.1671G>C (p.Glu557Asp) c.2127G>C (n.2127G>C) c.3525G>C (p.Glu1175Asp) c.3507G>C (p.Glu1169Asp)
22	g.50721361G=	CA2411008192	SHANK3	c.3129G= (p.Glu1043=) n.3713G= c.2181G= (p.Glu727=) c.1671G= (p.Glu557=) c.2127G= (n.2127G=) c.3525G= (p.Glu1175=) c.3507G= (p.Glu1169=)
22	g.50721361G>T	CA515262146	SHANK3	c.3129G>T (p.Glu1043Asp) n.3713G>T c.2181G>T (p.Glu727Asp) c.1671G>T (p.Glu557Asp) c.2127G>T (n.2127G>T) c.3525G>T (p.Glu1175Asp) c.3507G>T (p.Glu1169Asp)
22	g.50721362G>A	CA515262147	SHANK3	c.3130G>A (p.Ala1044Thr) n.3714G>A c.2182G>A (p.Ala728Thr) c.1672G>A (p.Ala558Thr) c.2128G>A (n.2128G>A) c.3526G>A (p.Ala1176Thr) c.3508G>A (p.Ala1170Thr)
22	g.50721362G>C	CA515262148	SHANK3	c.3130G>C (p.Ala1044Pro) n.3714G>C c.2182G>C (p.Ala728Pro) c.1672G>C (p.Ala558Pro) c.2128G>C (n.2128G>C) c.3526G>C (p.Ala1176Pro) c.3508G>C (p.Ala1170Pro)
22	g.50721362G>T	CA515262149	SHANK3	c.3130G>T (p.Ala1044Ser) n.3714G>T c.2182G>T (p.Ala728Ser) c.1672G>T (p.Ala558Ser) c.2128G>T (n.2128G>T) c.3526G>T (p.Ala1176Ser) c.3508G>T (p.Ala1170Ser)
22	g.50721363C>A	CA515262152	SHANK3	c.3131C>A (p.Ala1044Glu) n.3715C>A c.2183C>A (p.Ala728Glu) c.1673C>A (p.Ala558Glu) c.2129C>A (n.2129C>A) c.3527C>A (p.Ala1176Glu) c.3509C>A (p.Ala1170Glu)
22	g.50721363C>G	CA515262150	SHANK3	c.3131C>G (p.Ala1044Gly) n.3715C>G c.2183C>G (p.Ala728Gly) c.1673C>G (p.Ala558Gly) c.2129C>G (n.2129C>G) c.3527C>G (p.Ala1176Gly) c.3509C>G (p.Ala1170Gly)
22	g.50721363C>T	CA515262151	SHANK3	c.3131C>T (p.Ala1044Val) n.3715C>T c.2183C>T (p.Ala728Val) c.1673C>T (p.Ala558Val) c.2129C>T (n.2129C>T) c.3527C>T (p.Ala1176Val) c.3509C>T (p.Ala1170Val)
22	g.50721364A>C	CA515262153	SHANK3	c.3132A>C (p.Ala1044=) n.3716A>C c.2184A>C (p.Ala728=) c.1674A>C (p.Ala558=) c.2130A>C (n.2130A>C) c.3528A>C (p.Ala1176=) c.3510A>C (p.Ala1170=)
22	g.50721364A>G	CA515262154	SHANK3	c.3132A>G (p.Ala1044=) n.3716A>G c.2184A>G (p.Ala728=) c.1674A>G (p.Ala558=) c.2130A>G (n.2130A>G) c.3528A>G (p.Ala1176=) c.3510A>G (p.Ala1170=)
22	g.50721364A>T	CA515262155	SHANK3	c.3132A>T (p.Ala1044=) n.3716A>T c.2184A>T (p.Ala728=) c.1674A>T (p.Ala558=) c.2130A>T (n.2130A>T) c.3528A>T (p.Ala1176=) c.3510A>T (p.Ala1170=)
22	g.50721365G>A	CA515262156	SHANK3	c.3133G>A (p.Glu1045Lys) n.3717G>A c.2185G>A (p.Glu729Lys) c.1675G>A (p.Glu559Lys) c.2131G>A (n.2131G>A) c.3529G>A (p.Glu1177Lys) c.3511G>A (p.Glu1171Lys)
22	g.50721365G>C	CA515262157	SHANK3	c.3133G>C (p.Glu1045Gln) n.3717G>C c.2185G>C (p.Glu729Gln) c.1675G>C (p.Glu559Gln) c.2131G>C (n.2131G>C) c.3529G>C (p.Glu1177Gln) c.3511G>C (p.Glu1171Gln)
22	g.50721365G>T	CA515262158	SHANK3	c.3133G>T (p.Glu1045Ter) n.3717G>T c.2185G>T (p.Glu729Ter) c.1675G>T (p.Glu559Ter) c.2131G>T (n.2131G>T) c.3529G>T (p.Glu1177Ter) c.3511G>T (p.Glu1171Ter)
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)

Number of alleles fetched