Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) |