Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50720851_50720871dup | CA2546940682 | SHANK3 | c.2619_2639dup (p.Gly880_Pro881insLeuAlaPheGlyGlyProGly) n.3203_3223dup c.1671_1691dup (p.Gly564_Pro565insLeuAlaPheGlyGlyProGly) c.1161_1181dup (p.Gly394_Pro395insLeuAlaPheGlyGlyProGly) c.*1617_*1637dup (n.*1617_*1637dup) c.3015_3035dup (p.Gly1012_Pro1013insLeuAlaPheGlyGlyProGly) c.2997_3017dup (p.Gly1006_Pro1007insLeuAlaPheGlyGlyProGly) | gnomAD v4 |
22 | g.50720856_50720894del | CA2819316113 | SHANK3 | c.2624_2662del (p.Ala875_Leu887del) n.3208_3246del c.1676_1714del (p.Ala559_Leu571del) c.1166_1204del (p.Ala389_Leu401del) c.*1622_*1660del (n.*1622_*1660del) c.3020_3058del (p.Ala1007_Leu1019del) c.3002_3040del (p.Ala1001_Leu1013del) | |
22 | g.50720873_50720874insGCCGAACGCGAGCCCCGGGCC | CA2819316117 | SHANK3 | c.2641_2642insGCCGAACGCGAGCCCCGGGCC (p.Gly880_Pro881insArgArgThrArgAlaProGly) n.3225_3226insGCCGAACGCGAGCCCCGGGCC c.1693_1694insGCCGAACGCGAGCCCCGGGCC (p.Gly564_Pro565insArgArgThrArgAlaProGly) c.1183_1184insGCCGAACGCGAGCCCCGGGCC (p.Gly394_Pro395insArgArgThrArgAlaProGly) c.*1639_*1640insGCCGAACGCGAGCCCCGGGCC (n.*1639_*1640insGCCGAACGCGAGCCCCGGGCC) c.3037_3038insGCCGAACGCGAGCCCCGGGCC (p.Gly1012_Pro1013insArgArgThrArgAlaProGly) c.3019_3020insGCCGAACGCGAGCCCCGGGCC (p.Gly1006_Pro1007insArgArgThrArgAlaProGly) | |
22 | g.50720871del | CA2657583417 | SHANK3 | c.2639del (p.Gly880AlafsTer?) n.3223del c.1691del (p.Gly564AlafsTer?) c.1181del (p.Gly394AlafsTer?) c.*1637del (n.*1637del) c.3035del (p.Gly1012AlafsTer?) c.3017del (p.Gly1006AlafsTer?) | gnomAD v4 |
22 | g.50720870G>A | CA515260529 | SHANK3 | c.2638G>A (p.Gly880Ser) n.3222G>A c.1690G>A (p.Gly564Ser) c.1180G>A (p.Gly394Ser) c.*1636G>A (n.*1636G>A) c.3034G>A (p.Gly1012Ser) c.3016G>A (p.Gly1006Ser) | gnomAD v4 |
22 | g.50720870G>C | CA515260531 | SHANK3 | c.2638G>C (p.Gly880Arg) n.3222G>C c.1690G>C (p.Gly564Arg) c.1180G>C (p.Gly394Arg) c.*1636G>C (n.*1636G>C) c.3034G>C (p.Gly1012Arg) c.3016G>C (p.Gly1006Arg) | |
22 | g.50720870G>T | CA515260530 | SHANK3 | c.2638G>T (p.Gly880Cys) n.3222G>T c.1690G>T (p.Gly564Cys) c.1180G>T (p.Gly394Cys) c.*1636G>T (n.*1636G>T) c.3034G>T (p.Gly1012Cys) c.3016G>T (p.Gly1006Cys) | gnomAD v4 |
22 | g.50720871G>A | CA515260532 | SHANK3 | c.2639G>A (p.Gly880Asp) n.3223G>A c.1691G>A (p.Gly564Asp) c.1181G>A (p.Gly394Asp) c.*1637G>A (n.*1637G>A) c.3035G>A (p.Gly1012Asp) c.3017G>A (p.Gly1006Asp) | gnomAD v4 |
22 | g.50720871G>C | CA515260533 | SHANK3 | c.2639G>C (p.Gly880Ala) n.3223G>C c.1691G>C (p.Gly564Ala) c.1181G>C (p.Gly394Ala) c.*1637G>C (n.*1637G>C) c.3035G>C (p.Gly1012Ala) c.3017G>C (p.Gly1006Ala) | gnomAD v4 |
22 | g.50720871G= | CA2411007878 | SHANK3 | c.2639G= (p.Gly880=) n.3223G= c.1691G= (p.Gly564=) c.1181G= (p.Gly394=) c.*1637G= (n.*1637G=) c.3035G= (p.Gly1012=) c.3017G= (p.Gly1006=) | |
22 | g.50720871G>T | CA515260534 | SHANK3 | c.2639G>T (p.Gly880Val) n.3223G>T c.1691G>T (p.Gly564Val) c.1181G>T (p.Gly394Val) c.*1637G>T (n.*1637G>T) c.3035G>T (p.Gly1012Val) c.3017G>T (p.Gly1006Val) | dbSNP gnomAD v4 |
22 | g.50720872C>A | CA515260535 | SHANK3 | c.2640C>A (p.Gly880=) n.3224C>A c.1692C>A (p.Gly564=) c.1182C>A (p.Gly394=) c.*1638C>A (n.*1638C>A) c.3036C>A (p.Gly1012=) c.3018C>A (p.Gly1006=) | gnomAD v4 |
22 | g.50720872C= | CA2411007879 | SHANK3 | c.2640C= (p.Gly880=) n.3224C= c.1692C= (p.Gly564=) c.1182C= (p.Gly394=) c.*1638C= (n.*1638C=) c.3036C= (p.Gly1012=) c.3018C= (p.Gly1006=) | |
22 | g.50720872C>G | CA515260536 | SHANK3 | c.2640C>G (p.Gly880=) n.3224C>G c.1692C>G (p.Gly564=) c.1182C>G (p.Gly394=) c.*1638C>G (n.*1638C>G) c.3036C>G (p.Gly1012=) c.3018C>G (p.Gly1006=) | |
22 | g.50720872C>T | CA515260537 | SHANK3 | c.2640C>T (p.Gly880=) n.3224C>T c.1692C>T (p.Gly564=) c.1182C>T (p.Gly394=) c.*1638C>T (n.*1638C>T) c.3036C>T (p.Gly1012=) c.3018C>T (p.Gly1006=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720873_50720878dup | CA2577768681 | SHANK3 | c.2641_2646dup (p.Ala882_Lys883insProAla) n.3225_3230dup c.1693_1698dup (p.Ala566_Lys567insProAla) c.1183_1188dup (p.Ala396_Lys397insProAla) c.*1639_*1644dup (n.*1639_*1644dup) c.3037_3042dup (p.Ala1014_Lys1015insProAla) c.3019_3024dup (p.Ala1008_Lys1009insProAla) | gnomAD v4 |
22 | g.50720872_50720883delinsCCCGGCCAAGGA | CA2411007880 | SHANK3 | c.2640_2651delinsCCCGGCCAAGGA (p.Gly880=) n.3224_3235delinsCCCGGCCAAGGA c.1692_1703delinsCCCGGCCAAGGA (p.Gly564=) c.1182_1193delinsCCCGGCCAAGGA (p.Gly394=) c.*1638_*1649delinsCCCGGCCAAGGA (n.*1638_*1649delinsCCCGGCCAAGGA) c.3036_3047delinsCCCGGCCAAGGA (p.Gly1012=) c.3018_3029delinsCCCGGCCAAGGA (p.Gly1006=) | |
22 | g.50720873C>A | CA515260538 | SHANK3 | c.2641C>A (p.Pro881Thr) n.3225C>A c.1693C>A (p.Pro565Thr) c.1183C>A (p.Pro395Thr) c.*1639C>A (n.*1639C>A) c.3037C>A (p.Pro1013Thr) c.3019C>A (p.Pro1007Thr) | gnomAD v4 |
22 | g.50720873C= | CA2411007881 | SHANK3 | c.2641C= (p.Pro881=) n.3225C= c.1693C= (p.Pro565=) c.1183C= (p.Pro395=) c.*1639C= (n.*1639C=) c.3037C= (p.Pro1013=) c.3019C= (p.Pro1007=) | |
22 | g.50720873C>G | CA515260539 | SHANK3 | c.2641C>G (p.Pro881Ala) n.3225C>G c.1693C>G (p.Pro565Ala) c.1183C>G (p.Pro395Ala) c.*1639C>G (n.*1639C>G) c.3037C>G (p.Pro1013Ala) c.3019C>G (p.Pro1007Ala) | dbSNP |
22 | g.50720873C>T | CA515260540 | SHANK3 | c.2641C>T (p.Pro881Ser) n.3225C>T c.1693C>T (p.Pro565Ser) c.1183C>T (p.Pro395Ser) c.*1639C>T (n.*1639C>T) c.3037C>T (p.Pro1013Ser) c.3019C>T (p.Pro1007Ser) | dbSNP |
22 | g.50720878_50720888del | CA1139667202 | SHANK3 | c.2646_2656del (p.Lys883AlafsTer?) n.3230_3240del c.1698_1708del (p.Lys567AlafsTer?) c.1188_1198del (p.Lys397AlafsTer?) c.*1644_*1654del (n.*1644_*1654del) c.3042_3052del (p.Lys1015AlafsTer?) c.3024_3034del (p.Lys1009AlafsTer?) | ClinVar dbSNP |
22 | g.50720874C>A | CA515260541 | SHANK3 | c.2642C>A (p.Pro881Gln) n.3226C>A c.1694C>A (p.Pro565Gln) c.1184C>A (p.Pro395Gln) c.*1640C>A (n.*1640C>A) c.3038C>A (p.Pro1013Gln) c.3020C>A (p.Pro1007Gln) | gnomAD v4 |
22 | g.50720874C= | CA2411007882 | SHANK3 | c.2642C= (p.Pro881=) n.3226C= c.1694C= (p.Pro565=) c.1184C= (p.Pro395=) c.*1640C= (n.*1640C=) c.3038C= (p.Pro1013=) c.3020C= (p.Pro1007=) | |
22 | g.50720874C>G | CA515260542 | SHANK3 | c.2642C>G (p.Pro881Arg) n.3226C>G c.1694C>G (p.Pro565Arg) c.1184C>G (p.Pro395Arg) c.*1640C>G (n.*1640C>G) c.3038C>G (p.Pro1013Arg) c.3020C>G (p.Pro1007Arg) | |
22 | g.50720874C>T | CA515260543 | SHANK3 | c.2642C>T (p.Pro881Leu) n.3226C>T c.1694C>T (p.Pro565Leu) c.1184C>T (p.Pro395Leu) c.*1640C>T (n.*1640C>T) c.3038C>T (p.Pro1013Leu) c.3020C>T (p.Pro1007Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720874_50720875insAA | CA2544619542 | SHANK3 | c.2642_2643insAA (p.Ala882ArgfsTer?) n.3226_3227insAA c.1694_1695insAA (p.Ala566ArgfsTer?) c.1184_1185insAA (p.Ala396ArgfsTer?) c.*1640_*1641insAA (n.*1640_*1641insAA) c.3038_3039insAA (p.Ala1014ArgfsTer?) c.3020_3021insAA (p.Ala1008ArgfsTer?) | |
22 | g.50720875G>A | CA10325946 | SHANK3 | c.2643G>A (p.Pro881=) n.3227G>A c.1695G>A (p.Pro565=) c.1185G>A (p.Pro395=) c.*1641G>A (n.*1641G>A) c.3039G>A (p.Pro1013=) c.3021G>A (p.Pro1007=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720875G>C | CA515260544 | SHANK3 | c.2643G>C (p.Pro881=) n.3227G>C c.1695G>C (p.Pro565=) c.1185G>C (p.Pro395=) c.*1641G>C (n.*1641G>C) c.3039G>C (p.Pro1013=) c.3021G>C (p.Pro1007=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720875G= | CA2411007883 | SHANK3 | c.2643G= (p.Pro881=) n.3227G= c.1695G= (p.Pro565=) c.1185G= (p.Pro395=) c.*1641G= (n.*1641G=) c.3039G= (p.Pro1013=) c.3021G= (p.Pro1007=) | |
22 | g.50720875G>T | CA515260545 | SHANK3 | c.2643G>T (p.Pro881=) n.3227G>T c.1695G>T (p.Pro565=) c.1185G>T (p.Pro395=) c.*1641G>T (n.*1641G>T) c.3039G>T (p.Pro1013=) c.3021G>T (p.Pro1007=) | |
22 | g.50720876G>A | CA515260546 | SHANK3 | c.2644G>A (p.Ala882Thr) n.3228G>A c.1696G>A (p.Ala566Thr) c.1186G>A (p.Ala396Thr) c.*1642G>A (n.*1642G>A) c.3040G>A (p.Ala1014Thr) c.3022G>A (p.Ala1008Thr) | gnomAD v4 |
22 | g.50720876G>C | CA515260547 | SHANK3 | c.2644G>C (p.Ala882Pro) n.3228G>C c.1696G>C (p.Ala566Pro) c.1186G>C (p.Ala396Pro) c.*1642G>C (n.*1642G>C) c.3040G>C (p.Ala1014Pro) c.3022G>C (p.Ala1008Pro) | gnomAD v4 |
22 | g.50720876G>T | CA515260548 | SHANK3 | c.2644G>T (p.Ala882Ser) n.3228G>T c.1696G>T (p.Ala566Ser) c.1186G>T (p.Ala396Ser) c.*1642G>T (n.*1642G>T) c.3040G>T (p.Ala1014Ser) c.3022G>T (p.Ala1008Ser) | gnomAD v4 |
22 | g.50720876_50720877del | CA2515735889 | SHANK3 | c.2644_2645del (p.Ala882GlnfsTer?) n.3228_3229del c.1696_1697del (p.Ala566GlnfsTer?) c.1186_1187del (p.Ala396GlnfsTer?) c.*1642_*1643del (n.*1642_*1643del) c.3040_3041del (p.Ala1014GlnfsTer?) c.3022_3023del (p.Ala1008GlnfsTer?) | |
22 | g.50720877C>A | CA515260549 | SHANK3 | c.2645C>A (p.Ala882Asp) n.3229C>A c.1697C>A (p.Ala566Asp) c.1187C>A (p.Ala396Asp) c.*1643C>A (n.*1643C>A) c.3041C>A (p.Ala1014Asp) c.3023C>A (p.Ala1008Asp) | gnomAD v4 |
22 | g.50720877C>G | CA515260550 | SHANK3 | c.2645C>G (p.Ala882Gly) n.3229C>G c.1697C>G (p.Ala566Gly) c.1187C>G (p.Ala396Gly) c.*1643C>G (n.*1643C>G) c.3041C>G (p.Ala1014Gly) c.3023C>G (p.Ala1008Gly) | gnomAD v3 gnomAD v4 |
22 | g.50720877C>T | CA515260551 | SHANK3 | c.2645C>T (p.Ala882Val) n.3229C>T c.1697C>T (p.Ala566Val) c.1187C>T (p.Ala396Val) c.*1643C>T (n.*1643C>T) c.3041C>T (p.Ala1014Val) c.3023C>T (p.Ala1008Val) | gnomAD v4 |
22 | g.50720878C>A | CA515260552 | SHANK3 | c.2646C>A (p.Ala882=) n.3230C>A c.1698C>A (p.Ala566=) c.1188C>A (p.Ala396=) c.*1644C>A (n.*1644C>A) c.3042C>A (p.Ala1014=) c.3024C>A (p.Ala1008=) | gnomAD v4 |
22 | g.50720878C= | CA2411007884 | SHANK3 | c.2646C= (p.Ala882=) n.3230C= c.1698C= (p.Ala566=) c.1188C= (p.Ala396=) c.*1644C= (n.*1644C=) c.3042C= (p.Ala1014=) c.3024C= (p.Ala1008=) | |
22 | g.50720878C>G | CA515260553 | SHANK3 | c.2646C>G (p.Ala882=) n.3230C>G c.1698C>G (p.Ala566=) c.1188C>G (p.Ala396=) c.*1644C>G (n.*1644C>G) c.3042C>G (p.Ala1014=) c.3024C>G (p.Ala1008=) | gnomAD v4 |
22 | g.50720878C>T | CA10325947 | SHANK3 | c.2646C>T (p.Ala882=) n.3230C>T c.1698C>T (p.Ala566=) c.1188C>T (p.Ala396=) c.*1644C>T (n.*1644C>T) c.3042C>T (p.Ala1014=) c.3024C>T (p.Ala1008=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720878_50720893delinsCAAGGACCGGCGGCTG | CA2411007885 | SHANK3 | c.2646_2661delinsCAAGGACCGGCGGCTG (p.Ala882=) n.3230_3245delinsCAAGGACCGGCGGCTG c.1698_1713delinsCAAGGACCGGCGGCTG (p.Ala566=) c.1188_1203delinsCAAGGACCGGCGGCTG (p.Ala396=) c.*1644_*1659delinsCAAGGACCGGCGGCTG (n.*1644_*1659delinsCAAGGACCGGCGGCTG) c.3042_3057delinsCAAGGACCGGCGGCTG (p.Ala1014=) c.3024_3039delinsCAAGGACCGGCGGCTG (p.Ala1008=) | |
22 | g.50720879A>C | CA515260554 | SHANK3 | c.2647A>C (p.Lys883Gln) n.3231A>C c.1699A>C (p.Lys567Gln) c.1189A>C (p.Lys397Gln) c.*1645A>C (n.*1645A>C) c.3043A>C (p.Lys1015Gln) c.3025A>C (p.Lys1009Gln) | gnomAD v4 |
22 | g.50720879A>G | CA515260555 | SHANK3 | c.2647A>G (p.Lys883Glu) n.3231A>G c.1699A>G (p.Lys567Glu) c.1189A>G (p.Lys397Glu) c.*1645A>G (n.*1645A>G) c.3043A>G (p.Lys1015Glu) c.3025A>G (p.Lys1009Glu) | gnomAD v4 |
22 | g.50720879A>T | CA515260556 | SHANK3 | c.2647A>T (p.Lys883Ter) n.3231A>T c.1699A>T (p.Lys567Ter) c.1189A>T (p.Lys397Ter) c.*1645A>T (n.*1645A>T) c.3043A>T (p.Lys1015Ter) c.3025A>T (p.Lys1009Ter) | |
22 | g.50720879_50720893del | CA2411007886 | SHANK3 | c.2647_2661del (p.Lys883_Leu887del) n.3231_3245del c.1699_1713del (p.Lys567_Leu571del) c.1189_1203del (p.Lys397_Leu401del) c.*1645_*1659del (n.*1645_*1659del) c.3043_3057del (p.Lys1015_Leu1019del) c.3025_3039del (p.Lys1009_Leu1013del) | dbSNP gnomAD v4 |
22 | g.50720880A>C | CA515260559 | SHANK3 | c.2648A>C (p.Lys883Thr) n.3232A>C c.1700A>C (p.Lys567Thr) c.1190A>C (p.Lys397Thr) c.*1646A>C (n.*1646A>C) c.3044A>C (p.Lys1015Thr) c.3026A>C (p.Lys1009Thr) | gnomAD v4 |
22 | g.50720880A>G | CA515260558 | SHANK3 | c.2648A>G (p.Lys883Arg) n.3232A>G c.1700A>G (p.Lys567Arg) c.1190A>G (p.Lys397Arg) c.*1646A>G (n.*1646A>G) c.3044A>G (p.Lys1015Arg) c.3026A>G (p.Lys1009Arg) | gnomAD v4 |
22 | g.50720880A>T | CA515260557 | SHANK3 | c.2648A>T (p.Lys883Met) n.3232A>T c.1700A>T (p.Lys567Met) c.1190A>T (p.Lys397Met) c.*1646A>T (n.*1646A>T) c.3044A>T (p.Lys1015Met) c.3026A>T (p.Lys1009Met) | |
22 | g.50720881G>A | CA10325948 | SHANK3 | c.2649G>A (p.Lys883=) n.3233G>A c.1701G>A (p.Lys567=) c.1191G>A (p.Lys397=) c.*1647G>A (n.*1647G>A) c.3045G>A (p.Lys1015=) c.3027G>A (p.Lys1009=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720881G>C | CA515260560 | SHANK3 | c.2649G>C (p.Lys883Asn) n.3233G>C c.1701G>C (p.Lys567Asn) c.1191G>C (p.Lys397Asn) c.*1647G>C (n.*1647G>C) c.3045G>C (p.Lys1015Asn) c.3027G>C (p.Lys1009Asn) | |
22 | g.50720881G= | CA2411007887 | SHANK3 | c.2649G= (p.Lys883=) n.3233G= c.1701G= (p.Lys567=) c.1191G= (p.Lys397=) c.*1647G= (n.*1647G=) c.3045G= (p.Lys1015=) c.3027G= (p.Lys1009=) | |
22 | g.50720881G>T | CA515260561 | SHANK3 | c.2649G>T (p.Lys883Asn) n.3233G>T c.1701G>T (p.Lys567Asn) c.1191G>T (p.Lys397Asn) c.*1647G>T (n.*1647G>T) c.3045G>T (p.Lys1015Asn) c.3027G>T (p.Lys1009Asn) | gnomAD v4 |
22 | g.50720882G>A | CA515260562 | SHANK3 | c.2650G>A (p.Asp884Asn) n.3234G>A c.1702G>A (p.Asp568Asn) c.1192G>A (p.Asp398Asn) c.*1648G>A (n.*1648G>A) c.3046G>A (p.Asp1016Asn) c.3028G>A (p.Asp1010Asn) | gnomAD v4 |
22 | g.50720882G>C | CA325578380 | SHANK3 | c.2650G>C (p.Asp884His) n.3234G>C c.1702G>C (p.Asp568His) c.1192G>C (p.Asp398His) c.*1648G>C (n.*1648G>C) c.3046G>C (p.Asp1016His) c.3028G>C (p.Asp1010His) | dbSNP |
22 | g.50720882G= | CA2411007888 | SHANK3 | c.2650G= (p.Asp884=) n.3234G= c.1702G= (p.Asp568=) c.1192G= (p.Asp398=) c.*1648G= (n.*1648G=) c.3046G= (p.Asp1016=) c.3028G= (p.Asp1010=) | |
22 | g.50720882G>T | CA515260563 | SHANK3 | c.2650G>T (p.Asp884Tyr) n.3234G>T c.1702G>T (p.Asp568Tyr) c.1192G>T (p.Asp398Tyr) c.*1648G>T (n.*1648G>T) c.3046G>T (p.Asp1016Tyr) c.3028G>T (p.Asp1010Tyr) | gnomAD v4 |
22 | g.50720883A>C | CA515260564 | SHANK3 | c.2651A>C (p.Asp884Ala) n.3235A>C c.1703A>C (p.Asp568Ala) c.1193A>C (p.Asp398Ala) c.*1649A>C (n.*1649A>C) c.3047A>C (p.Asp1016Ala) c.3029A>C (p.Asp1010Ala) | gnomAD v4 |
22 | g.50720883A>G | CA515260565 | SHANK3 | c.2651A>G (p.Asp884Gly) n.3235A>G c.1703A>G (p.Asp568Gly) c.1193A>G (p.Asp398Gly) c.*1649A>G (n.*1649A>G) c.3047A>G (p.Asp1016Gly) c.3029A>G (p.Asp1010Gly) | gnomAD v4 |
22 | g.50720883A>T | CA515260566 | SHANK3 | c.2651A>T (p.Asp884Val) n.3235A>T c.1703A>T (p.Asp568Val) c.1193A>T (p.Asp398Val) c.*1649A>T (n.*1649A>T) c.3047A>T (p.Asp1016Val) c.3029A>T (p.Asp1010Val) | |
22 | g.50720884C>A | CA515260567 | SHANK3 | c.2652C>A (p.Asp884Glu) n.3236C>A c.1704C>A (p.Asp568Glu) c.1194C>A (p.Asp398Glu) c.*1650C>A (n.*1650C>A) c.3048C>A (p.Asp1016Glu) c.3030C>A (p.Asp1010Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720884C= | CA2411007889 | SHANK3 | c.2652C= (p.Asp884=) n.3236C= c.1704C= (p.Asp568=) c.1194C= (p.Asp398=) c.*1650C= (n.*1650C=) c.3048C= (p.Asp1016=) c.3030C= (p.Asp1010=) | |
22 | g.50720884C>G | CA515260568 | SHANK3 | c.2652C>G (p.Asp884Glu) n.3236C>G c.1704C>G (p.Asp568Glu) c.1194C>G (p.Asp398Glu) c.*1650C>G (n.*1650C>G) c.3048C>G (p.Asp1016Glu) c.3030C>G (p.Asp1010Glu) | gnomAD v4 |
22 | g.50720884C>T | CA515260569 | SHANK3 | c.2652C>T (p.Asp884=) n.3236C>T c.1704C>T (p.Asp568=) c.1194C>T (p.Asp398=) c.*1650C>T (n.*1650C>T) c.3048C>T (p.Asp1016=) c.3030C>T (p.Asp1010=) | dbSNP gnomAD v4 |
22 | g.50720885C>A | CA515260570 | SHANK3 | c.2653C>A (p.Arg885=) n.3237C>A c.1705C>A (p.Arg569=) c.1195C>A (p.Arg399=) c.*1651C>A (n.*1651C>A) c.3049C>A (p.Arg1017=) c.3031C>A (p.Arg1011=) | gnomAD v4 |
22 | g.50720885C= | CA2411007890 | SHANK3 | c.2653C= (p.Arg885=) n.3237C= c.1705C= (p.Arg569=) c.1195C= (p.Arg399=) c.*1651C= (n.*1651C=) c.3049C= (p.Arg1017=) c.3031C= (p.Arg1011=) | |
22 | g.50720885C>G | CA515260571 | SHANK3 | c.2653C>G (p.Arg885Gly) n.3237C>G c.1705C>G (p.Arg569Gly) c.1195C>G (p.Arg399Gly) c.*1651C>G (n.*1651C>G) c.3049C>G (p.Arg1017Gly) c.3031C>G (p.Arg1011Gly) | dbSNP |
22 | g.50720885C>T | CA515260572 | SHANK3 | c.2653C>T (p.Arg885Trp) n.3237C>T c.1705C>T (p.Arg569Trp) c.1195C>T (p.Arg399Trp) c.*1651C>T (n.*1651C>T) c.3049C>T (p.Arg1017Trp) c.3031C>T (p.Arg1011Trp) | ClinVar gnomAD v4 |
22 | g.50720886G>A | CA515260575 | SHANK3 | c.2654G>A (p.Arg885Gln) n.3238G>A c.1706G>A (p.Arg569Gln) c.1196G>A (p.Arg399Gln) c.*1652G>A (n.*1652G>A) c.3050G>A (p.Arg1017Gln) c.3032G>A (p.Arg1011Gln) | dbSNP gnomAD v4 |
22 | g.50720886G>C | CA515260573 | SHANK3 | c.2654G>C (p.Arg885Pro) n.3238G>C c.1706G>C (p.Arg569Pro) c.1196G>C (p.Arg399Pro) c.*1652G>C (n.*1652G>C) c.3050G>C (p.Arg1017Pro) c.3032G>C (p.Arg1011Pro) | |
22 | g.50720886G= | CA2411007891 | SHANK3 | c.2654G= (p.Arg885=) n.3238G= c.1706G= (p.Arg569=) c.1196G= (p.Arg399=) c.*1652G= (n.*1652G=) c.3050G= (p.Arg1017=) c.3032G= (p.Arg1011=) | |
22 | g.50720886G>T | CA515260574 | SHANK3 | c.2654G>T (p.Arg885Leu) n.3238G>T c.1706G>T (p.Arg569Leu) c.1196G>T (p.Arg399Leu) c.*1652G>T (n.*1652G>T) c.3050G>T (p.Arg1017Leu) c.3032G>T (p.Arg1011Leu) | gnomAD v4 |
22 | g.50720887G>A | CA515260576 | SHANK3 | c.2655G>A (p.Arg885=) n.3239G>A c.1707G>A (p.Arg569=) c.1197G>A (p.Arg399=) c.*1653G>A (n.*1653G>A) c.3051G>A (p.Arg1017=) c.3033G>A (p.Arg1011=) | gnomAD v4 |
22 | g.50720887G>C | CA515260577 | SHANK3 | c.2655G>C (p.Arg885=) n.3239G>C c.1707G>C (p.Arg569=) c.1197G>C (p.Arg399=) c.*1653G>C (n.*1653G>C) c.3051G>C (p.Arg1017=) c.3033G>C (p.Arg1011=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720887G>T | CA515260578 | SHANK3 | c.2655G>T (p.Arg885=) n.3239G>T c.1707G>T (p.Arg569=) c.1197G>T (p.Arg399=) c.*1653G>T (n.*1653G>T) c.3051G>T (p.Arg1017=) c.3033G>T (p.Arg1011=) | gnomAD v4 |
22 | g.50720888_50720889del | CA2657583418 | SHANK3 | c.2656_2657del (p.Arg886AlafsTer?) n.3240_3241del c.1708_1709del (p.Arg570AlafsTer?) c.1198_1199del (p.Arg400AlafsTer?) c.*1654_*1655del (n.*1654_*1655del) c.3052_3053del (p.Arg1018AlafsTer?) c.3034_3035del (p.Arg1012AlafsTer?) | gnomAD v4 |
22 | g.50720888C>A | CA515260579 | SHANK3 | c.2656C>A (p.Arg886=) n.3240C>A c.1708C>A (p.Arg570=) c.1198C>A (p.Arg400=) c.*1654C>A (n.*1654C>A) c.3052C>A (p.Arg1018=) c.3034C>A (p.Arg1012=) | gnomAD v4 |
22 | g.50720888C= | CA2411007892 | SHANK3 | c.2656C= (p.Arg886=) n.3240C= c.1708C= (p.Arg570=) c.1198C= (p.Arg400=) c.*1654C= (n.*1654C=) c.3052C= (p.Arg1018=) c.3034C= (p.Arg1012=) | |
22 | g.50720888C>G | CA515260580 | SHANK3 | c.2656C>G (p.Arg886Gly) n.3240C>G c.1708C>G (p.Arg570Gly) c.1198C>G (p.Arg400Gly) c.*1654C>G (n.*1654C>G) c.3052C>G (p.Arg1018Gly) c.3034C>G (p.Arg1012Gly) | |
22 | g.50720888C>T | CA10325949 | SHANK3 | c.2656C>T (p.Arg886Trp) n.3240C>T c.1708C>T (p.Arg570Trp) c.1198C>T (p.Arg400Trp) c.*1654C>T (n.*1654C>T) c.3052C>T (p.Arg1018Trp) c.3034C>T (p.Arg1012Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720889G>A | CA515260581 | SHANK3 | c.2657G>A (p.Arg886Gln) n.3241G>A c.1709G>A (p.Arg570Gln) c.1199G>A (p.Arg400Gln) c.*1655G>A (n.*1655G>A) c.3053G>A (p.Arg1018Gln) c.3035G>A (p.Arg1012Gln) | gnomAD v4 |
22 | g.50720889G>C | CA515260582 | SHANK3 | c.2657G>C (p.Arg886Pro) n.3241G>C c.1709G>C (p.Arg570Pro) c.1199G>C (p.Arg400Pro) c.*1655G>C (n.*1655G>C) c.3053G>C (p.Arg1018Pro) c.3035G>C (p.Arg1012Pro) | gnomAD v4 |
22 | g.50720889G>T | CA515260583 | SHANK3 | c.2657G>T (p.Arg886Leu) n.3241G>T c.1709G>T (p.Arg570Leu) c.1199G>T (p.Arg400Leu) c.*1655G>T (n.*1655G>T) c.3053G>T (p.Arg1018Leu) c.3035G>T (p.Arg1012Leu) | gnomAD v4 |
22 | g.50720890G>A | CA515260584 | SHANK3 | c.2658G>A (p.Arg886=) n.3242G>A c.1710G>A (p.Arg570=) c.1200G>A (p.Arg400=) c.*1656G>A (n.*1656G>A) c.3054G>A (p.Arg1018=) c.3036G>A (p.Arg1012=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720890G>C | CA515260585 | SHANK3 | c.2658G>C (p.Arg886=) n.3242G>C c.1710G>C (p.Arg570=) c.1200G>C (p.Arg400=) c.*1656G>C (n.*1656G>C) c.3054G>C (p.Arg1018=) c.3036G>C (p.Arg1012=) | |
22 | g.50720890G= | CA2411007893 | SHANK3 | c.2658G= (p.Arg886=) n.3242G= c.1710G= (p.Arg570=) c.1200G= (p.Arg400=) c.*1656G= (n.*1656G=) c.3054G= (p.Arg1018=) c.3036G= (p.Arg1012=) | |
22 | g.50720890G>T | CA515260586 | SHANK3 | c.2658G>T (p.Arg886=) n.3242G>T c.1710G>T (p.Arg570=) c.1200G>T (p.Arg400=) c.*1656G>T (n.*1656G>T) c.3054G>T (p.Arg1018=) c.3036G>T (p.Arg1012=) | gnomAD v4 |
22 | g.50720891C>A | CA515260589 | SHANK3 | c.2659C>A (p.Leu887Met) n.3243C>A c.1711C>A (p.Leu571Met) c.1201C>A (p.Leu401Met) c.*1657C>A (n.*1657C>A) c.3055C>A (p.Leu1019Met) c.3037C>A (p.Leu1013Met) | gnomAD v4 |
22 | g.50720891C>G | CA515260588 | SHANK3 | c.2659C>G (p.Leu887Val) n.3243C>G c.1711C>G (p.Leu571Val) c.1201C>G (p.Leu401Val) c.*1657C>G (n.*1657C>G) c.3055C>G (p.Leu1019Val) c.3037C>G (p.Leu1013Val) | dbSNP |
22 | g.50720891C>T | CA515260587 | SHANK3 | c.2659C>T (p.Leu887=) n.3243C>T c.1711C>T (p.Leu571=) c.1201C>T (p.Leu401=) c.*1657C>T (n.*1657C>T) c.3055C>T (p.Leu1019=) c.3037C>T (p.Leu1013=) | gnomAD v4 |
22 | g.50720892T>A | CA515260592 | SHANK3 | c.2660T>A (p.Leu887Gln) n.3244T>A c.1712T>A (p.Leu571Gln) c.1202T>A (p.Leu401Gln) c.*1658T>A (n.*1658T>A) c.3056T>A (p.Leu1019Gln) c.3038T>A (p.Leu1013Gln) | |
22 | g.50720892T>C | CA515260590 | SHANK3 | c.2660T>C (p.Leu887Pro) n.3244T>C c.1712T>C (p.Leu571Pro) c.1202T>C (p.Leu401Pro) c.*1658T>C (n.*1658T>C) c.3056T>C (p.Leu1019Pro) c.3038T>C (p.Leu1013Pro) | gnomAD v4 |
22 | g.50720892T>G | CA515260591 | SHANK3 | c.2660T>G (p.Leu887Arg) n.3244T>G c.1712T>G (p.Leu571Arg) c.1202T>G (p.Leu401Arg) c.*1658T>G (n.*1658T>G) c.3056T>G (p.Leu1019Arg) c.3038T>G (p.Leu1013Arg) | gnomAD v4 |
22 | g.50720893G>A | CA515260593 | SHANK3 | c.2661G>A (p.Leu887=) n.3245G>A c.1713G>A (p.Leu571=) c.1203G>A (p.Leu401=) c.*1659G>A (n.*1659G>A) c.3057G>A (p.Leu1019=) c.3039G>A (p.Leu1013=) | gnomAD v4 |
22 | g.50720893G>C | CA515260594 | SHANK3 | c.2661G>C (p.Leu887=) n.3245G>C c.1713G>C (p.Leu571=) c.1203G>C (p.Leu401=) c.*1659G>C (n.*1659G>C) c.3057G>C (p.Leu1019=) c.3039G>C (p.Leu1013=) | gnomAD v4 |
22 | g.50720893G>T | CA515260595 | SHANK3 | c.2661G>T (p.Leu887=) n.3245G>T c.1713G>T (p.Leu571=) c.1203G>T (p.Leu401=) c.*1659G>T (n.*1659G>T) c.3057G>T (p.Leu1019=) c.3039G>T (p.Leu1013=) | gnomAD v4 |
22 | g.50720894del | CA2740092006 | SHANK3 | c.2662del (p.Glu888ArgfsTer?) n.3246del c.1714del (p.Glu572ArgfsTer?) c.1204del (p.Glu402ArgfsTer?) c.*1660del (n.*1660del) c.3058del (p.Glu1020ArgfsTer?) c.3040del (p.Glu1014ArgfsTer?) | ClinVar |
22 | g.50720894G>A | CA515260598 | SHANK3 | c.2662G>A (p.Glu888Lys) n.3246G>A c.1714G>A (p.Glu572Lys) c.1204G>A (p.Glu402Lys) c.*1660G>A (n.*1660G>A) c.3058G>A (p.Glu1020Lys) c.3040G>A (p.Glu1014Lys) | gnomAD v4 |
22 | g.50720894G>C | CA515260597 | SHANK3 | c.2662G>C (p.Glu888Gln) n.3246G>C c.1714G>C (p.Glu572Gln) c.1204G>C (p.Glu402Gln) c.*1660G>C (n.*1660G>C) c.3058G>C (p.Glu1020Gln) c.3040G>C (p.Glu1014Gln) | |
22 | g.50720894G>T | CA515260596 | SHANK3 | c.2662G>T (p.Glu888Ter) n.3246G>T c.1714G>T (p.Glu572Ter) c.1204G>T (p.Glu402Ter) c.*1660G>T (n.*1660G>T) c.3058G>T (p.Glu1020Ter) c.3040G>T (p.Glu1014Ter) | gnomAD v4 |
22 | g.50720895del | CA2657583419 | SHANK3 | c.2663del (p.Glu888GlyfsTer?) n.3247del c.1715del (p.Glu572GlyfsTer?) c.1205del (p.Glu402GlyfsTer?) c.*1661del (n.*1661del) c.3059del (p.Glu1020GlyfsTer?) c.3041del (p.Glu1014GlyfsTer?) | gnomAD v4 |
22 | g.50720895A= | CA2411007894 | SHANK3 | c.2663A= (p.Glu888=) n.3247A= c.1715A= (p.Glu572=) c.1205A= (p.Glu402=) c.*1661A= (n.*1661A=) c.3059A= (p.Glu1020=) c.3041A= (p.Glu1014=) | |
22 | g.50720895A>C | CA515260599 | SHANK3 | c.2663A>C (p.Glu888Ala) n.3247A>C c.1715A>C (p.Glu572Ala) c.1205A>C (p.Glu402Ala) c.*1661A>C (n.*1661A>C) c.3059A>C (p.Glu1020Ala) c.3041A>C (p.Glu1014Ala) | gnomAD v4 |
22 | g.50720895A>G | CA325578397 | SHANK3 | c.2663A>G (p.Glu888Gly) n.3247A>G c.1715A>G (p.Glu572Gly) c.1205A>G (p.Glu402Gly) c.*1661A>G (n.*1661A>G) c.3059A>G (p.Glu1020Gly) c.3041A>G (p.Glu1014Gly) | dbSNP gnomAD v4 |
22 | g.50720895A>T | CA515260600 | SHANK3 | c.2663A>T (p.Glu888Val) n.3247A>T c.1715A>T (p.Glu572Val) c.1205A>T (p.Glu402Val) c.*1661A>T (n.*1661A>T) c.3059A>T (p.Glu1020Val) c.3041A>T (p.Glu1014Val) | |
22 | g.50720896G>A | CA515260601 | SHANK3 | c.2664G>A (p.Glu888=) n.3248G>A c.1716G>A (p.Glu572=) c.1206G>A (p.Glu402=) c.*1662G>A (n.*1662G>A) c.3060G>A (p.Glu1020=) c.3042G>A (p.Glu1014=) | gnomAD v4 |
22 | g.50720896G>C | CA515260602 | SHANK3 | c.2664G>C (p.Glu888Asp) n.3248G>C c.1716G>C (p.Glu572Asp) c.1206G>C (p.Glu402Asp) c.*1662G>C (n.*1662G>C) c.3060G>C (p.Glu1020Asp) c.3042G>C (p.Glu1014Asp) | |
22 | g.50720896G>T | CA515260603 | SHANK3 | c.2664G>T (p.Glu888Asp) n.3248G>T c.1716G>T (p.Glu572Asp) c.1206G>T (p.Glu402Asp) c.*1662G>T (n.*1662G>T) c.3060G>T (p.Glu1020Asp) c.3042G>T (p.Glu1014Asp) | gnomAD v4 |
22 | g.50720897G>A | CA515260604 | SHANK3 | c.2665G>A (p.Glu889Lys) n.3249G>A c.1717G>A (p.Glu573Lys) c.1207G>A (p.Glu403Lys) c.*1663G>A (n.*1663G>A) c.3061G>A (p.Glu1021Lys) c.3043G>A (p.Glu1015Lys) | gnomAD v4 |
22 | g.50720897G>C | CA515260606 | SHANK3 | c.2665G>C (p.Glu889Gln) n.3249G>C c.1717G>C (p.Glu573Gln) c.1207G>C (p.Glu403Gln) c.*1663G>C (n.*1663G>C) c.3061G>C (p.Glu1021Gln) c.3043G>C (p.Glu1015Gln) | |
22 | g.50720897G>T | CA515260605 | SHANK3 | c.2665G>T (p.Glu889Ter) n.3249G>T c.1717G>T (p.Glu573Ter) c.1207G>T (p.Glu403Ter) c.*1663G>T (n.*1663G>T) c.3061G>T (p.Glu1021Ter) c.3043G>T (p.Glu1015Ter) | gnomAD v4 |
22 | g.50720898A= | CA2411007895 | SHANK3 | c.2666A= (p.Glu889=) n.3250A= c.1718A= (p.Glu573=) c.1208A= (p.Glu403=) c.*1664A= (n.*1664A=) c.3062A= (p.Glu1021=) c.3044A= (p.Glu1015=) | |
22 | g.50720898A>C | CA515260607 | SHANK3 | c.2666A>C (p.Glu889Ala) n.3250A>C c.1718A>C (p.Glu573Ala) c.1208A>C (p.Glu403Ala) c.*1664A>C (n.*1664A>C) c.3062A>C (p.Glu1021Ala) c.3044A>C (p.Glu1015Ala) | gnomAD v4 |
22 | g.50720898A>G | CA515260608 | SHANK3 | c.2666A>G (p.Glu889Gly) n.3250A>G c.1718A>G (p.Glu573Gly) c.1208A>G (p.Glu403Gly) c.*1664A>G (n.*1664A>G) c.3062A>G (p.Glu1021Gly) c.3044A>G (p.Glu1015Gly) | dbSNP gnomAD v4 |
22 | g.50720898A>T | CA515260609 | SHANK3 | c.2666A>T (p.Glu889Val) n.3250A>T c.1718A>T (p.Glu573Val) c.1208A>T (p.Glu403Val) c.*1664A>T (n.*1664A>T) c.3062A>T (p.Glu1021Val) c.3044A>T (p.Glu1015Val) | gnomAD v4 |
22 | g.50720899G>A | CA325578404 | SHANK3 | c.2667G>A (p.Glu889=) n.3251G>A c.1719G>A (p.Glu573=) c.1209G>A (p.Glu403=) c.*1665G>A (n.*1665G>A) c.3063G>A (p.Glu1021=) c.3045G>A (p.Glu1015=) | dbSNP gnomAD v4 |
22 | g.50720899G>C | CA515260610 | SHANK3 | c.2667G>C (p.Glu889Asp) n.3251G>C c.1719G>C (p.Glu573Asp) c.1209G>C (p.Glu403Asp) c.*1665G>C (n.*1665G>C) c.3063G>C (p.Glu1021Asp) c.3045G>C (p.Glu1015Asp) | |
22 | g.50720899G= | CA2411007896 | SHANK3 | c.2667G= (p.Glu889=) n.3251G= c.1719G= (p.Glu573=) c.1209G= (p.Glu403=) c.*1665G= (n.*1665G=) c.3063G= (p.Glu1021=) c.3045G= (p.Glu1015=) | |
22 | g.50720899G>T | CA515260611 | SHANK3 | c.2667G>T (p.Glu889Asp) n.3251G>T c.1719G>T (p.Glu573Asp) c.1209G>T (p.Glu403Asp) c.*1665G>T (n.*1665G>T) c.3063G>T (p.Glu1021Asp) c.3045G>T (p.Glu1015Asp) | |
22 | g.50720900C>A | CA515260612 | SHANK3 | c.2668C>A (p.Arg890=) n.3252C>A c.1720C>A (p.Arg574=) c.1210C>A (p.Arg404=) c.*1666C>A (n.*1666C>A) c.3064C>A (p.Arg1022=) c.3046C>A (p.Arg1016=) | gnomAD v4 |
22 | g.50720900C= | CA2411007897 | SHANK3 | c.2668C= (p.Arg890=) n.3252C= c.1720C= (p.Arg574=) c.1210C= (p.Arg404=) c.*1666C= (n.*1666C=) c.3064C= (p.Arg1022=) c.3046C= (p.Arg1016=) | |
22 | g.50720900C>G | CA515260613 | SHANK3 | c.2668C>G (p.Arg890Gly) n.3252C>G c.1720C>G (p.Arg574Gly) c.1210C>G (p.Arg404Gly) c.*1666C>G (n.*1666C>G) c.3064C>G (p.Arg1022Gly) c.3046C>G (p.Arg1016Gly) | gnomAD v4 |
22 | g.50720900C>T | CA515260614 | SHANK3 | c.2668C>T (p.Arg890Trp) n.3252C>T c.1720C>T (p.Arg574Trp) c.1210C>T (p.Arg404Trp) c.*1666C>T (n.*1666C>T) c.3064C>T (p.Arg1022Trp) c.3046C>T (p.Arg1016Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720901G>A | CA515260615 | SHANK3 | c.2669G>A (p.Arg890Gln) n.3253G>A c.1721G>A (p.Arg574Gln) c.1211G>A (p.Arg404Gln) c.*1667G>A (n.*1667G>A) c.3065G>A (p.Arg1022Gln) c.3047G>A (p.Arg1016Gln) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720901G>C | CA515260616 | SHANK3 | c.2669G>C (p.Arg890Pro) n.3253G>C c.1721G>C (p.Arg574Pro) c.1211G>C (p.Arg404Pro) c.*1667G>C (n.*1667G>C) c.3065G>C (p.Arg1022Pro) c.3047G>C (p.Arg1016Pro) | |
22 | g.50720901G= | CA2411007898 | SHANK3 | c.2669G= (p.Arg890=) n.3253G= c.1721G= (p.Arg574=) c.1211G= (p.Arg404=) c.*1667G= (n.*1667G=) c.3065G= (p.Arg1022=) c.3047G= (p.Arg1016=) | |
22 | g.50720901G>T | CA515260617 | SHANK3 | c.2669G>T (p.Arg890Leu) n.3253G>T c.1721G>T (p.Arg574Leu) c.1211G>T (p.Arg404Leu) c.*1667G>T (n.*1667G>T) c.3065G>T (p.Arg1022Leu) c.3047G>T (p.Arg1016Leu) | gnomAD v4 |
22 | g.50720902G>A | CA10325950 | SHANK3 | c.2670G>A (p.Arg890=) n.3254G>A c.1722G>A (p.Arg574=) c.1212G>A (p.Arg404=) c.*1668G>A (n.*1668G>A) c.3066G>A (p.Arg1022=) c.3048G>A (p.Arg1016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720902G>C | CA515260619 | SHANK3 | c.2670G>C (p.Arg890=) n.3254G>C c.1722G>C (p.Arg574=) c.1212G>C (p.Arg404=) c.*1668G>C (n.*1668G>C) c.3066G>C (p.Arg1022=) c.3048G>C (p.Arg1016=) | |
22 | g.50720902G= | CA2411007899 | SHANK3 | c.2670G= (p.Arg890=) n.3254G= c.1722G= (p.Arg574=) c.1212G= (p.Arg404=) c.*1668G= (n.*1668G=) c.3066G= (p.Arg1022=) c.3048G= (p.Arg1016=) | |
22 | g.50720902G>T | CA515260618 | SHANK3 | c.2670G>T (p.Arg890=) n.3254G>T c.1722G>T (p.Arg574=) c.1212G>T (p.Arg404=) c.*1668G>T (n.*1668G>T) c.3066G>T (p.Arg1022=) c.3048G>T (p.Arg1016=) | gnomAD v4 |
22 | g.50720903C>A | CA515260620 | SHANK3 | c.2671C>A (p.Arg891Ser) n.3255C>A c.1723C>A (p.Arg575Ser) c.1213C>A (p.Arg405Ser) c.*1669C>A (n.*1669C>A) c.3067C>A (p.Arg1023Ser) c.3049C>A (p.Arg1017Ser) | gnomAD v4 |
22 | g.50720903C>G | CA515260621 | SHANK3 | c.2671C>G (p.Arg891Gly) n.3255C>G c.1723C>G (p.Arg575Gly) c.1213C>G (p.Arg405Gly) c.*1669C>G (n.*1669C>G) c.3067C>G (p.Arg1023Gly) c.3049C>G (p.Arg1017Gly) | |
22 | g.50720903C>T | CA515260622 | SHANK3 | c.2671C>T (p.Arg891Cys) n.3255C>T c.1723C>T (p.Arg575Cys) c.1213C>T (p.Arg405Cys) c.*1669C>T (n.*1669C>T) c.3067C>T (p.Arg1023Cys) c.3049C>T (p.Arg1017Cys) | dbSNP gnomAD v4 |
22 | g.50720904G>A | CA515260623 | SHANK3 | c.2672G>A (p.Arg891His) n.3256G>A c.1724G>A (p.Arg575His) c.1214G>A (p.Arg405His) c.*1670G>A (n.*1670G>A) c.3068G>A (p.Arg1023His) c.3050G>A (p.Arg1017His) | dbSNP gnomAD v4 |
22 | g.50720904G>C | CA515260624 | SHANK3 | c.2672G>C (p.Arg891Pro) n.3256G>C c.1724G>C (p.Arg575Pro) c.1214G>C (p.Arg405Pro) c.*1670G>C (n.*1670G>C) c.3068G>C (p.Arg1023Pro) c.3050G>C (p.Arg1017Pro) | gnomAD v4 |
22 | g.50720904G= | CA2411007900 | SHANK3 | c.2672G= (p.Arg891=) n.3256G= c.1724G= (p.Arg575=) c.1214G= (p.Arg405=) c.*1670G= (n.*1670G=) c.3068G= (p.Arg1023=) c.3050G= (p.Arg1017=) | |
22 | g.50720904G>T | CA515260625 | SHANK3 | c.2672G>T (p.Arg891Leu) n.3256G>T c.1724G>T (p.Arg575Leu) c.1214G>T (p.Arg405Leu) c.*1670G>T (n.*1670G>T) c.3068G>T (p.Arg1023Leu) c.3050G>T (p.Arg1017Leu) | gnomAD v4 |
22 | g.50720905C>A | CA515260628 | SHANK3 | c.2673C>A (p.Arg891=) n.3257C>A c.1725C>A (p.Arg575=) c.1215C>A (p.Arg405=) c.*1671C>A (n.*1671C>A) c.3069C>A (p.Arg1023=) c.3051C>A (p.Arg1017=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720905C= | CA2411007901 | SHANK3 | c.2673C= (p.Arg891=) n.3257C= c.1725C= (p.Arg575=) c.1215C= (p.Arg405=) c.*1671C= (n.*1671C=) c.3069C= (p.Arg1023=) c.3051C= (p.Arg1017=) | |
22 | g.50720905C>G | CA515260627 | SHANK3 | c.2673C>G (p.Arg891=) n.3257C>G c.1725C>G (p.Arg575=) c.1215C>G (p.Arg405=) c.*1671C>G (n.*1671C>G) c.3069C>G (p.Arg1023=) c.3051C>G (p.Arg1017=) | gnomAD v4 |
22 | g.50720905C>T | CA515260626 | SHANK3 | c.2673C>T (p.Arg891=) n.3257C>T c.1725C>T (p.Arg575=) c.1215C>T (p.Arg405=) c.*1671C>T (n.*1671C>T) c.3069C>T (p.Arg1023=) c.3051C>T (p.Arg1017=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720906C>A | CA515260629 | SHANK3 | c.2674C>A (p.Arg892Ser) n.3258C>A c.1726C>A (p.Arg576Ser) c.1216C>A (p.Arg406Ser) c.*1672C>A (n.*1672C>A) c.3070C>A (p.Arg1024Ser) c.3052C>A (p.Arg1018Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720906C= | CA2411007902 | SHANK3 | c.2674C= (p.Arg892=) n.3258C= c.1726C= (p.Arg576=) c.1216C= (p.Arg406=) c.*1672C= (n.*1672C=) c.3070C= (p.Arg1024=) c.3052C= (p.Arg1018=) | |
22 | g.50720906C>G | CA515260630 | SHANK3 | c.2674C>G (p.Arg892Gly) n.3258C>G c.1726C>G (p.Arg576Gly) c.1216C>G (p.Arg406Gly) c.*1672C>G (n.*1672C>G) c.3070C>G (p.Arg1024Gly) c.3052C>G (p.Arg1018Gly) | gnomAD v4 |
22 | g.50720906C>T | CA515260631 | SHANK3 | c.2674C>T (p.Arg892Cys) n.3258C>T c.1726C>T (p.Arg576Cys) c.1216C>T (p.Arg406Cys) c.*1672C>T (n.*1672C>T) c.3070C>T (p.Arg1024Cys) c.3052C>T (p.Arg1018Cys) | gnomAD v4 |
22 | g.50720907G>A | CA10325951 | SHANK3 | c.2675G>A (p.Arg892His) n.3259G>A c.1727G>A (p.Arg576His) c.1217G>A (p.Arg406His) c.*1673G>A (n.*1673G>A) c.3071G>A (p.Arg1024His) c.3053G>A (p.Arg1018His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720907G>C | CA515260632 | SHANK3 | c.2675G>C (p.Arg892Pro) n.3259G>C c.1727G>C (p.Arg576Pro) c.1217G>C (p.Arg406Pro) c.*1673G>C (n.*1673G>C) c.3071G>C (p.Arg1024Pro) c.3053G>C (p.Arg1018Pro) | gnomAD v4 |
22 | g.50720907G= | CA2411007903 | SHANK3 | c.2675G= (p.Arg892=) n.3259G= c.1727G= (p.Arg576=) c.1217G= (p.Arg406=) c.*1673G= (n.*1673G=) c.3071G= (p.Arg1024=) c.3053G= (p.Arg1018=) | |
22 | g.50720907G>T | CA515260633 | SHANK3 | c.2675G>T (p.Arg892Leu) n.3259G>T c.1727G>T (p.Arg576Leu) c.1217G>T (p.Arg406Leu) c.*1673G>T (n.*1673G>T) c.3071G>T (p.Arg1024Leu) c.3053G>T (p.Arg1018Leu) | gnomAD v4 |
22 | g.50720908C>A | CA515260634 | SHANK3 | c.2676C>A (p.Arg892=) n.3260C>A c.1728C>A (p.Arg576=) c.1218C>A (p.Arg406=) c.*1674C>A (n.*1674C>A) c.3072C>A (p.Arg1024=) c.3054C>A (p.Arg1018=) | gnomAD v4 |
22 | g.50720908C>G | CA515260636 | SHANK3 | c.2676C>G (p.Arg892=) n.3260C>G c.1728C>G (p.Arg576=) c.1218C>G (p.Arg406=) c.*1674C>G (n.*1674C>G) c.3072C>G (p.Arg1024=) c.3054C>G (p.Arg1018=) | |
22 | g.50720908C>T | CA515260635 | SHANK3 | c.2676C>T (p.Arg892=) n.3260C>T c.1728C>T (p.Arg576=) c.1218C>T (p.Arg406=) c.*1674C>T (n.*1674C>T) c.3072C>T (p.Arg1024=) c.3054C>T (p.Arg1018=) | |
22 | g.50720909T>A | CA515260637 | SHANK3 | c.2677T>A (p.Ser893Thr) n.3261T>A c.1729T>A (p.Ser577Thr) c.1219T>A (p.Ser407Thr) c.*1675T>A (n.*1675T>A) c.3073T>A (p.Ser1025Thr) c.3055T>A (p.Ser1019Thr) | |
22 | g.50720909T>C | CA515260638 | SHANK3 | c.2677T>C (p.Ser893Pro) n.3261T>C c.1729T>C (p.Ser577Pro) c.1219T>C (p.Ser407Pro) c.*1675T>C (n.*1675T>C) c.3073T>C (p.Ser1025Pro) c.3055T>C (p.Ser1019Pro) | gnomAD v4 |
22 | g.50720909T>G | CA515260639 | SHANK3 | c.2677T>G (p.Ser893Ala) n.3261T>G c.1729T>G (p.Ser577Ala) c.1219T>G (p.Ser407Ala) c.*1675T>G (n.*1675T>G) c.3073T>G (p.Ser1025Ala) c.3055T>G (p.Ser1019Ala) | gnomAD v4 |
22 | g.50720910C>A | CA515260640 | SHANK3 | c.2678C>A (p.Ser893Tyr) n.3262C>A c.1730C>A (p.Ser577Tyr) c.1220C>A (p.Ser407Tyr) c.*1676C>A (n.*1676C>A) c.3074C>A (p.Ser1025Tyr) c.3056C>A (p.Ser1019Tyr) | gnomAD v4 |
22 | g.50720910C= | CA2411007904 | SHANK3 | c.2678C= (p.Ser893=) n.3262C= c.1730C= (p.Ser577=) c.1220C= (p.Ser407=) c.*1676C= (n.*1676C=) c.3074C= (p.Ser1025=) c.3056C= (p.Ser1019=) | |
22 | g.50720910C>G | CA515260641 | SHANK3 | c.2678C>G (p.Ser893Cys) n.3262C>G c.1730C>G (p.Ser577Cys) c.1220C>G (p.Ser407Cys) c.*1676C>G (n.*1676C>G) c.3074C>G (p.Ser1025Cys) c.3056C>G (p.Ser1019Cys) | |
22 | g.50720910C>T | CA515260642 | SHANK3 | c.2678C>T (p.Ser893Phe) n.3262C>T c.1730C>T (p.Ser577Phe) c.1220C>T (p.Ser407Phe) c.*1676C>T (n.*1676C>T) c.3074C>T (p.Ser1025Phe) c.3056C>T (p.Ser1019Phe) | ClinVar dbSNP gnomAD v4 |
22 | g.50720911C>A | CA515260643 | SHANK3 | c.2679C>A (p.Ser893=) n.3263C>A c.1731C>A (p.Ser577=) c.1221C>A (p.Ser407=) c.*1677C>A (n.*1677C>A) c.3075C>A (p.Ser1025=) c.3057C>A (p.Ser1019=) | gnomAD v4 |
22 | g.50720911C>G | CA515260644 | SHANK3 | c.2679C>G (p.Ser893=) n.3263C>G c.1731C>G (p.Ser577=) c.1221C>G (p.Ser407=) c.*1677C>G (n.*1677C>G) c.3075C>G (p.Ser1025=) c.3057C>G (p.Ser1019=) | |
22 | g.50720911C>T | CA515260645 | SHANK3 | c.2679C>T (p.Ser893=) n.3263C>T c.1731C>T (p.Ser577=) c.1221C>T (p.Ser407=) c.*1677C>T (n.*1677C>T) c.3075C>T (p.Ser1025=) c.3057C>T (p.Ser1019=) | |
22 | g.50720912A= | CA2411007905 | SHANK3 | c.2680A= (p.Thr894=) n.3264A= c.1732A= (p.Thr578=) c.1222A= (p.Thr408=) c.*1678A= (n.*1678A=) c.3076A= (p.Thr1026=) c.3058A= (p.Thr1020=) | |
22 | g.50720912A>C | CA325578434 | SHANK3 | c.2680A>C (p.Thr894Pro) n.3264A>C c.1732A>C (p.Thr578Pro) c.1222A>C (p.Thr408Pro) c.*1678A>C (n.*1678A>C) c.3076A>C (p.Thr1026Pro) c.3058A>C (p.Thr1020Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720912A>G | CA325578442 | SHANK3 | c.2680A>G (p.Thr894Ala) n.3264A>G c.1732A>G (p.Thr578Ala) c.1222A>G (p.Thr408Ala) c.*1678A>G (n.*1678A>G) c.3076A>G (p.Thr1026Ala) c.3058A>G (p.Thr1020Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720912A>T | CA325578445 | SHANK3 | c.2680A>T (p.Thr894Ser) n.3264A>T c.1732A>T (p.Thr578Ser) c.1222A>T (p.Thr408Ser) c.*1678A>T (n.*1678A>T) c.3076A>T (p.Thr1026Ser) c.3058A>T (p.Thr1020Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720913C>A | CA515260646 | SHANK3 | c.2681C>A (p.Thr894Asn) n.3265C>A c.1733C>A (p.Thr578Asn) c.1223C>A (p.Thr408Asn) c.*1679C>A (n.*1679C>A) c.3077C>A (p.Thr1026Asn) c.3059C>A (p.Thr1020Asn) | dbSNP gnomAD v4 |
22 | g.50720913C= | CA2411007906 | SHANK3 | c.2681C= (p.Thr894=) n.3265C= c.1733C= (p.Thr578=) c.1223C= (p.Thr408=) c.*1679C= (n.*1679C=) c.3077C= (p.Thr1026=) c.3059C= (p.Thr1020=) | |
22 | g.50720913C>G | CA515260648 | SHANK3 | c.2681C>G (p.Thr894Ser) n.3265C>G c.1733C>G (p.Thr578Ser) c.1223C>G (p.Thr408Ser) c.*1679C>G (n.*1679C>G) c.3077C>G (p.Thr1026Ser) c.3059C>G (p.Thr1020Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720913C>T | CA515260647 | SHANK3 | c.2681C>T (p.Thr894Ile) n.3265C>T c.1733C>T (p.Thr578Ile) c.1223C>T (p.Thr408Ile) c.*1679C>T (n.*1679C>T) c.3077C>T (p.Thr1026Ile) c.3059C>T (p.Thr1020Ile) | gnomAD v4 |
22 | g.50720914T>A | CA515260649 | SHANK3 | c.2682T>A (p.Thr894=) n.3266T>A c.1734T>A (p.Thr578=) c.1224T>A (p.Thr408=) c.*1680T>A (n.*1680T>A) c.3078T>A (p.Thr1026=) c.3060T>A (p.Thr1020=) | gnomAD v4 |
22 | g.50720914T>C | CA515260650 | SHANK3 | c.2682T>C (p.Thr894=) n.3266T>C c.1734T>C (p.Thr578=) c.1224T>C (p.Thr408=) c.*1680T>C (n.*1680T>C) c.3078T>C (p.Thr1026=) c.3060T>C (p.Thr1020=) | dbSNP gnomAD v4 |
22 | g.50720914T>G | CA515260651 | SHANK3 | c.2682T>G (p.Thr894=) n.3266T>G c.1734T>G (p.Thr578=) c.1224T>G (p.Thr408=) c.*1680T>G (n.*1680T>G) c.3078T>G (p.Thr1026=) c.3060T>G (p.Thr1020=) | gnomAD v4 |
22 | g.50720914T= | CA2411007907 | SHANK3 | c.2682T= (p.Thr894=) n.3266T= c.1734T= (p.Thr578=) c.1224T= (p.Thr408=) c.*1680T= (n.*1680T=) c.3078T= (p.Thr1026=) c.3060T= (p.Thr1020=) | |
22 | g.50720915G>A | CA515260652 | SHANK3 | c.2683G>A (p.Val895Met) n.3267G>A c.1735G>A (p.Val579Met) c.1225G>A (p.Val409Met) c.*1681G>A (n.*1681G>A) c.3079G>A (p.Val1027Met) c.3061G>A (p.Val1021Met) | gnomAD v4 |
22 | g.50720915G>C | CA515260653 | SHANK3 | c.2683G>C (p.Val895Leu) n.3267G>C c.1735G>C (p.Val579Leu) c.1225G>C (p.Val409Leu) c.*1681G>C (n.*1681G>C) c.3079G>C (p.Val1027Leu) c.3061G>C (p.Val1021Leu) | |
22 | g.50720915G>T | CA515260654 | SHANK3 | c.2683G>T (p.Val895Leu) n.3267G>T c.1735G>T (p.Val579Leu) c.1225G>T (p.Val409Leu) c.*1681G>T (n.*1681G>T) c.3079G>T (p.Val1027Leu) c.3061G>T (p.Val1021Leu) | gnomAD v4 |
22 | g.50720916T>A | CA515260655 | SHANK3 | c.2684T>A (p.Val895Glu) n.3268T>A c.1736T>A (p.Val579Glu) c.1226T>A (p.Val409Glu) c.*1682T>A (n.*1682T>A) c.3080T>A (p.Val1027Glu) c.3062T>A (p.Val1021Glu) | |
22 | g.50720916T>C | CA515260656 | SHANK3 | c.2684T>C (p.Val895Ala) n.3268T>C c.1736T>C (p.Val579Ala) c.1226T>C (p.Val409Ala) c.*1682T>C (n.*1682T>C) c.3080T>C (p.Val1027Ala) c.3062T>C (p.Val1021Ala) | |
22 | g.50720916T>G | CA515260657 | SHANK3 | c.2684T>G (p.Val895Gly) n.3268T>G c.1736T>G (p.Val579Gly) c.1226T>G (p.Val409Gly) c.*1682T>G (n.*1682T>G) c.3080T>G (p.Val1027Gly) c.3062T>G (p.Val1021Gly) | gnomAD v4 |
22 | g.50720917G>A | CA515260658 | SHANK3 | c.2685G>A (p.Val895=) n.3269G>A c.1737G>A (p.Val579=) c.1227G>A (p.Val409=) c.*1683G>A (n.*1683G>A) c.3081G>A (p.Val1027=) c.3063G>A (p.Val1021=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720917G>C | CA515260659 | SHANK3 | c.2685G>C (p.Val895=) n.3269G>C c.1737G>C (p.Val579=) c.1227G>C (p.Val409=) c.*1683G>C (n.*1683G>C) c.3081G>C (p.Val1027=) c.3063G>C (p.Val1021=) | |
22 | g.50720917G= | CA2411007908 | SHANK3 | c.2685G= (p.Val895=) n.3269G= c.1737G= (p.Val579=) c.1227G= (p.Val409=) c.*1683G= (n.*1683G=) c.3081G= (p.Val1027=) c.3063G= (p.Val1021=) | |
22 | g.50720917G>T | CA10325952 | SHANK3 | c.2685G>T (p.Val895=) n.3269G>T c.1737G>T (p.Val579=) c.1227G>T (p.Val409=) c.*1683G>T (n.*1683G>T) c.3081G>T (p.Val1027=) c.3063G>T (p.Val1021=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720918T>A | CA515260662 | SHANK3 | c.2686T>A (p.Phe896Ile) n.3270T>A c.1738T>A (p.Phe580Ile) c.1228T>A (p.Phe410Ile) c.*1684T>A (n.*1684T>A) c.3082T>A (p.Phe1028Ile) c.3064T>A (p.Phe1022Ile) | |
22 | g.50720918T>C | CA515260661 | SHANK3 | c.2686T>C (p.Phe896Leu) n.3270T>C c.1738T>C (p.Phe580Leu) c.1228T>C (p.Phe410Leu) c.*1684T>C (n.*1684T>C) c.3082T>C (p.Phe1028Leu) c.3064T>C (p.Phe1022Leu) | |
22 | g.50720918T>G | CA515260660 | SHANK3 | c.2686T>G (p.Phe896Val) n.3270T>G c.1738T>G (p.Phe580Val) c.1228T>G (p.Phe410Val) c.*1684T>G (n.*1684T>G) c.3082T>G (p.Phe1028Val) c.3064T>G (p.Phe1022Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720918T= | CA2411007909 | SHANK3 | c.2686T= (p.Phe896=) n.3270T= c.1738T= (p.Phe580=) c.1228T= (p.Phe410=) c.*1684T= (n.*1684T=) c.3082T= (p.Phe1028=) c.3064T= (p.Phe1022=) | |
22 | g.50720919T>A | CA515260663 | SHANK3 | c.2687T>A (p.Phe896Tyr) n.3271T>A c.1739T>A (p.Phe580Tyr) c.1229T>A (p.Phe410Tyr) c.*1685T>A (n.*1685T>A) c.3083T>A (p.Phe1028Tyr) c.3065T>A (p.Phe1022Tyr) | gnomAD v4 |
22 | g.50720919T>C | CA515260664 | SHANK3 | c.2687T>C (p.Phe896Ser) n.3271T>C c.1739T>C (p.Phe580Ser) c.1229T>C (p.Phe410Ser) c.*1685T>C (n.*1685T>C) c.3083T>C (p.Phe1028Ser) c.3065T>C (p.Phe1022Ser) | gnomAD v4 |
22 | g.50720919T>G | CA515260665 | SHANK3 | c.2687T>G (p.Phe896Cys) n.3271T>G c.1739T>G (p.Phe580Cys) c.1229T>G (p.Phe410Cys) c.*1685T>G (n.*1685T>G) c.3083T>G (p.Phe1028Cys) c.3065T>G (p.Phe1022Cys) | |
22 | g.50720919_50720920delinsTC | CA2411007910 | SHANK3 | c.2687_2688delinsTC (p.Phe896=) n.3271_3272delinsTC c.1739_1740delinsTC (p.Phe580=) c.1229_1230delinsTC (p.Phe410=) c.*1685_*1686delinsTC (n.*1685_*1686delinsTC) c.3083_3084delinsTC (p.Phe1028=) c.3065_3066delinsTC (p.Phe1022=) | |
22 | g.50720920C>A | CA515260666 | SHANK3 | c.2688C>A (p.Phe896Leu) n.3272C>A c.1740C>A (p.Phe580Leu) c.1230C>A (p.Phe410Leu) c.*1686C>A (n.*1686C>A) c.3084C>A (p.Phe1028Leu) c.3066C>A (p.Phe1022Leu) | gnomAD v4 |
22 | g.50720920C= | CA2411007911 | SHANK3 | c.2688C= (p.Phe896=) n.3272C= c.1740C= (p.Phe580=) c.1230C= (p.Phe410=) c.*1686C= (n.*1686C=) c.3084C= (p.Phe1028=) c.3066C= (p.Phe1022=) | |
22 | g.50720920C>G | CA515260667 | SHANK3 | c.2688C>G (p.Phe896Leu) n.3272C>G c.1740C>G (p.Phe580Leu) c.1230C>G (p.Phe410Leu) c.*1686C>G (n.*1686C>G) c.3084C>G (p.Phe1028Leu) c.3066C>G (p.Phe1022Leu) | gnomAD v4 |
22 | g.50720920C>T | CA10325953 | SHANK3 | c.2688C>T (p.Phe896=) n.3272C>T c.1740C>T (p.Phe580=) c.1230C>T (p.Phe410=) c.*1686C>T (n.*1686C>T) c.3084C>T (p.Phe1028=) c.3066C>T (p.Phe1022=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720921del | CA1139667203 | SHANK3 | c.2689del (p.Leu897CysfsTer?) n.3273del c.1741del (p.Leu581CysfsTer?) c.1231del (p.Leu411CysfsTer?) c.*1687del (n.*1687del) c.3085del (p.Leu1029CysfsTer?) c.3067del (p.Leu1023CysfsTer?) | ClinVar dbSNP |
22 | g.50720921C>A | CA515260668 | SHANK3 | c.2689C>A (p.Leu897Met) n.3273C>A c.1741C>A (p.Leu581Met) c.1231C>A (p.Leu411Met) c.*1687C>A (n.*1687C>A) c.3085C>A (p.Leu1029Met) c.3067C>A (p.Leu1023Met) | gnomAD v4 |
22 | g.50720921C= | CA2411007912 | SHANK3 | c.2689C= (p.Leu897=) n.3273C= c.1741C= (p.Leu581=) c.1231C= (p.Leu411=) c.*1687C= (n.*1687C=) c.3085C= (p.Leu1029=) c.3067C= (p.Leu1023=) | |
22 | g.50720921C>G | CA515260669 | SHANK3 | c.2689C>G (p.Leu897Val) n.3273C>G c.1741C>G (p.Leu581Val) c.1231C>G (p.Leu411Val) c.*1687C>G (n.*1687C>G) c.3085C>G (p.Leu1029Val) c.3067C>G (p.Leu1023Val) | |
22 | g.50720921C>T | CA515260670 | SHANK3 | c.2689C>T (p.Leu897=) n.3273C>T c.1741C>T (p.Leu581=) c.1231C>T (p.Leu411=) c.*1687C>T (n.*1687C>T) c.3085C>T (p.Leu1029=) c.3067C>T (p.Leu1023=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720922T>A | CA515260671 | SHANK3 | c.2690T>A (p.Leu897Gln) n.3274T>A c.1742T>A (p.Leu581Gln) c.1232T>A (p.Leu411Gln) c.*1688T>A (n.*1688T>A) c.3086T>A (p.Leu1029Gln) c.3068T>A (p.Leu1023Gln) | |
22 | g.50720922T>C | CA515260672 | SHANK3 | c.2690T>C (p.Leu897Pro) n.3274T>C c.1742T>C (p.Leu581Pro) c.1232T>C (p.Leu411Pro) c.*1688T>C (n.*1688T>C) c.3086T>C (p.Leu1029Pro) c.3068T>C (p.Leu1023Pro) | dbSNP gnomAD v4 |
22 | g.50720922T>G | CA515260673 | SHANK3 | c.2690T>G (p.Leu897Arg) n.3274T>G c.1742T>G (p.Leu581Arg) c.1232T>G (p.Leu411Arg) c.*1688T>G (n.*1688T>G) c.3086T>G (p.Leu1029Arg) c.3068T>G (p.Leu1023Arg) | |
22 | g.50720922T= | CA2411007913 | SHANK3 | c.2690T= (p.Leu897=) n.3274T= c.1742T= (p.Leu581=) c.1232T= (p.Leu411=) c.*1688T= (n.*1688T=) c.3086T= (p.Leu1029=) c.3068T= (p.Leu1023=) | |
22 | g.50720923G>A | CA515260674 | SHANK3 | c.2691G>A (p.Leu897=) n.3275G>A c.1743G>A (p.Leu581=) c.1233G>A (p.Leu411=) c.*1689G>A (n.*1689G>A) c.3087G>A (p.Leu1029=) c.3069G>A (p.Leu1023=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720923G>C | CA515260676 | SHANK3 | c.2691G>C (p.Leu897=) n.3275G>C c.1743G>C (p.Leu581=) c.1233G>C (p.Leu411=) c.*1689G>C (n.*1689G>C) c.3087G>C (p.Leu1029=) c.3069G>C (p.Leu1023=) | gnomAD v4 |
22 | g.50720923G= | CA2411007914 | SHANK3 | c.2691G= (p.Leu897=) n.3275G= c.1743G= (p.Leu581=) c.1233G= (p.Leu411=) c.*1689G= (n.*1689G=) c.3087G= (p.Leu1029=) c.3069G= (p.Leu1023=) | |
22 | g.50720923G>T | CA515260675 | SHANK3 | c.2691G>T (p.Leu897=) n.3275G>T c.1743G>T (p.Leu581=) c.1233G>T (p.Leu411=) c.*1689G>T (n.*1689G>T) c.3087G>T (p.Leu1029=) c.3069G>T (p.Leu1023=) | gnomAD v4 |
22 | g.50720924T>A | CA515260677 | SHANK3 | c.2692T>A (p.Ser898Thr) n.3276T>A c.1744T>A (p.Ser582Thr) c.1234T>A (p.Ser412Thr) c.*1690T>A (n.*1690T>A) c.3088T>A (p.Ser1030Thr) c.3070T>A (p.Ser1024Thr) | |
22 | g.50720924T>C | CA515260679 | SHANK3 | c.2692T>C (p.Ser898Pro) n.3276T>C c.1744T>C (p.Ser582Pro) c.1234T>C (p.Ser412Pro) c.*1690T>C (n.*1690T>C) c.3088T>C (p.Ser1030Pro) c.3070T>C (p.Ser1024Pro) | gnomAD v4 |
22 | g.50720924T>G | CA515260678 | SHANK3 | c.2692T>G (p.Ser898Ala) n.3276T>G c.1744T>G (p.Ser582Ala) c.1234T>G (p.Ser412Ala) c.*1690T>G (n.*1690T>G) c.3088T>G (p.Ser1030Ala) c.3070T>G (p.Ser1024Ala) | |
22 | g.50720925C>A | CA515260680 | SHANK3 | c.2693C>A (p.Ser898Tyr) n.3277C>A c.1745C>A (p.Ser582Tyr) c.1235C>A (p.Ser412Tyr) c.*1691C>A (n.*1691C>A) c.3089C>A (p.Ser1030Tyr) c.3071C>A (p.Ser1024Tyr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720925C= | CA2411007915 | SHANK3 | c.2693C= (p.Ser898=) n.3277C= c.1745C= (p.Ser582=) c.1235C= (p.Ser412=) c.*1691C= (n.*1691C=) c.3089C= (p.Ser1030=) c.3071C= (p.Ser1024=) | |
22 | g.50720925C>G | CA515260682 | SHANK3 | c.2693C>G (p.Ser898Cys) n.3277C>G c.1745C>G (p.Ser582Cys) c.1235C>G (p.Ser412Cys) c.*1691C>G (n.*1691C>G) c.3089C>G (p.Ser1030Cys) c.3071C>G (p.Ser1024Cys) | gnomAD v4 |
22 | g.50720925C>T | CA515260681 | SHANK3 | c.2693C>T (p.Ser898Phe) n.3277C>T c.1745C>T (p.Ser582Phe) c.1235C>T (p.Ser412Phe) c.*1691C>T (n.*1691C>T) c.3089C>T (p.Ser1030Phe) c.3071C>T (p.Ser1024Phe) | gnomAD v4 |
22 | g.50720926C>A | CA515260683 | SHANK3 | c.2694C>A (p.Ser898=) n.3278C>A c.1746C>A (p.Ser582=) c.1236C>A (p.Ser412=) c.*1692C>A (n.*1692C>A) c.3090C>A (p.Ser1030=) c.3072C>A (p.Ser1024=) | gnomAD v4 |
22 | g.50720926C= | CA2411007916 | SHANK3 | c.2694C= (p.Ser898=) n.3278C= c.1746C= (p.Ser582=) c.1236C= (p.Ser412=) c.*1692C= (n.*1692C=) c.3090C= (p.Ser1030=) c.3072C= (p.Ser1024=) | |
22 | g.50720926C>G | CA515260684 | SHANK3 | c.2694C>G (p.Ser898=) n.3278C>G c.1746C>G (p.Ser582=) c.1236C>G (p.Ser412=) c.*1692C>G (n.*1692C>G) c.3090C>G (p.Ser1030=) c.3072C>G (p.Ser1024=) | dbSNP gnomAD v4 |
22 | g.50720926C>T | CA515260685 | SHANK3 | c.2694C>T (p.Ser898=) n.3278C>T c.1746C>T (p.Ser582=) c.1236C>T (p.Ser412=) c.*1692C>T (n.*1692C>T) c.3090C>T (p.Ser1030=) c.3072C>T (p.Ser1024=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720927G>A | CA515260686 | SHANK3 | c.2695G>A (p.Val899Met) n.3279G>A c.1747G>A (p.Val583Met) c.1237G>A (p.Val413Met) c.*1693G>A (n.*1693G>A) c.3091G>A (p.Val1031Met) c.3073G>A (p.Val1025Met) | gnomAD v4 |
22 | g.50720927G>C | CA515260687 | SHANK3 | c.2695G>C (p.Val899Leu) n.3279G>C c.1747G>C (p.Val583Leu) c.1237G>C (p.Val413Leu) c.*1693G>C (n.*1693G>C) c.3091G>C (p.Val1031Leu) c.3073G>C (p.Val1025Leu) | gnomAD v4 |
22 | g.50720927G>T | CA515260688 | SHANK3 | c.2695G>T (p.Val899Leu) n.3279G>T c.1747G>T (p.Val583Leu) c.1237G>T (p.Val413Leu) c.*1693G>T (n.*1693G>T) c.3091G>T (p.Val1031Leu) c.3073G>T (p.Val1025Leu) | gnomAD v4 |
22 | g.50720928T>A | CA515260689 | SHANK3 | c.2696T>A (p.Val899Glu) n.3280T>A c.1748T>A (p.Val583Glu) c.1238T>A (p.Val413Glu) c.*1694T>A (n.*1694T>A) c.3092T>A (p.Val1031Glu) c.3074T>A (p.Val1025Glu) | |
22 | g.50720928T>C | CA515260690 | SHANK3 | c.2696T>C (p.Val899Ala) n.3280T>C c.1748T>C (p.Val583Ala) c.1238T>C (p.Val413Ala) c.*1694T>C (n.*1694T>C) c.3092T>C (p.Val1031Ala) c.3074T>C (p.Val1025Ala) | |
22 | g.50720928T>G | CA515260691 | SHANK3 | c.2696T>G (p.Val899Gly) n.3280T>G c.1748T>G (p.Val583Gly) c.1238T>G (p.Val413Gly) c.*1694T>G (n.*1694T>G) c.3092T>G (p.Val1031Gly) c.3074T>G (p.Val1025Gly) | |
22 | g.50720928_50720929delinsTG | CA2411007917 | SHANK3 | c.2696_2697delinsTG (p.Val899=) n.3280_3281delinsTG c.1748_1749delinsTG (p.Val583=) c.1238_1239delinsTG (p.Val413=) c.*1694_*1695delinsTG (n.*1694_*1695delinsTG) c.3092_3093delinsTG (p.Val1031=) c.3074_3075delinsTG (p.Val1025=) | |
22 | g.50720929G>A | CA515260692 | SHANK3 | c.2697G>A (p.Val899=) n.3281G>A c.1749G>A (p.Val583=) c.1239G>A (p.Val413=) c.*1695G>A (n.*1695G>A) c.3093G>A (p.Val1031=) c.3075G>A (p.Val1025=) | dbSNP gnomAD v4 |
22 | g.50720929G>C | CA515260693 | SHANK3 | c.2697G>C (p.Val899=) n.3281G>C c.1749G>C (p.Val583=) c.1239G>C (p.Val413=) c.*1695G>C (n.*1695G>C) c.3093G>C (p.Val1031=) c.3075G>C (p.Val1025=) | |
22 | g.50720929G= | CA2411007918 | SHANK3 | c.2697G= (p.Val899=) n.3281G= c.1749G= (p.Val583=) c.1239G= (p.Val413=) c.*1695G= (n.*1695G=) c.3093G= (p.Val1031=) c.3075G= (p.Val1025=) | |
22 | g.50720929G>T | CA515260694 | SHANK3 | c.2697G>T (p.Val899=) n.3281G>T c.1749G>T (p.Val583=) c.1239G>T (p.Val413=) c.*1695G>T (n.*1695G>T) c.3093G>T (p.Val1031=) c.3075G>T (p.Val1025=) | gnomAD v4 |
22 | g.50720933del | CA1139667204 | SHANK3 | c.2701del (p.Ala901ProfsTer?) n.3285del c.1753del (p.Ala585ProfsTer?) c.1243del (p.Ala415ProfsTer?) c.*1699del (n.*1699del) c.3097del (p.Ala1033ProfsTer?) c.3079del (p.Ala1027ProfsTer?) | ClinVar dbSNP gnomAD v4 |
22 | g.50720930G>A | CA10581340 | SHANK3 | c.2698G>A (p.Gly900Arg) n.3282G>A c.1750G>A (p.Gly584Arg) c.1240G>A (p.Gly414Arg) c.*1696G>A (n.*1696G>A) c.3094G>A (p.Gly1032Arg) c.3076G>A (p.Gly1026Arg) | ClinVar dbSNP gnomAD v4 |
22 | g.50720930G>C | CA515260696 | SHANK3 | c.2698G>C (p.Gly900Arg) n.3282G>C c.1750G>C (p.Gly584Arg) c.1240G>C (p.Gly414Arg) c.*1696G>C (n.*1696G>C) c.3094G>C (p.Gly1032Arg) c.3076G>C (p.Gly1026Arg) | |
22 | g.50720930G= | CA2411007919 | SHANK3 | c.2698G= (p.Gly900=) n.3282G= c.1750G= (p.Gly584=) c.1240G= (p.Gly414=) c.*1696G= (n.*1696G=) c.3094G= (p.Gly1032=) c.3076G= (p.Gly1026=) | |
22 | g.50720930G>T | CA515260695 | SHANK3 | c.2698G>T (p.Gly900Trp) n.3282G>T c.1750G>T (p.Gly584Trp) c.1240G>T (p.Gly414Trp) c.*1696G>T (n.*1696G>T) c.3094G>T (p.Gly1032Trp) c.3076G>T (p.Gly1026Trp) | gnomAD v4 |
22 | g.50720931G>A | CA515260697 | SHANK3 | c.2699G>A (p.Gly900Glu) n.3283G>A c.1751G>A (p.Gly584Glu) c.1241G>A (p.Gly414Glu) c.*1697G>A (n.*1697G>A) c.3095G>A (p.Gly1032Glu) c.3077G>A (p.Gly1026Glu) | gnomAD v4 |
22 | g.50720931G>C | CA515260698 | SHANK3 | c.2699G>C (p.Gly900Ala) n.3283G>C c.1751G>C (p.Gly584Ala) c.1241G>C (p.Gly414Ala) c.*1697G>C (n.*1697G>C) c.3095G>C (p.Gly1032Ala) c.3077G>C (p.Gly1026Ala) | |
22 | g.50720931G>T | CA515260699 | SHANK3 | c.2699G>T (p.Gly900Val) n.3283G>T c.1751G>T (p.Gly584Val) c.1241G>T (p.Gly414Val) c.*1697G>T (n.*1697G>T) c.3095G>T (p.Gly1032Val) c.3077G>T (p.Gly1026Val) | gnomAD v4 |
22 | g.50720931_50720956delinsGGGCCATCGAGGGCAGCGCCCCCGGC | CA2411007920 | SHANK3 | c.2699_2724delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly900=) n.3283_3308delinsGGGCCATCGAGGGCAGCGCCCCCGGC c.1751_1776delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly584=) c.1241_1266delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly414=) c.*1697_*1722delinsGGGCCATCGAGGGCAGCGCCCCCGGC (n.*1697_*1722delinsGGGCCATCGAGGGCAGCGCCCCCGGC) c.3095_3120delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly1032=) c.3077_3102delinsGGGCCATCGAGGGCAGCGCCCCCGGC (p.Gly1026=) | |
22 | g.50720932G>A | CA325578458 | SHANK3 | c.2700G>A (p.Gly900=) n.3284G>A c.1752G>A (p.Gly584=) c.1242G>A (p.Gly414=) c.*1698G>A (n.*1698G>A) c.3096G>A (p.Gly1032=) c.3078G>A (p.Gly1026=) | dbSNP gnomAD v4 |
22 | g.50720932G>C | CA515260700 | SHANK3 | c.2700G>C (p.Gly900=) n.3284G>C c.1752G>C (p.Gly584=) c.1242G>C (p.Gly414=) c.*1698G>C (n.*1698G>C) c.3096G>C (p.Gly1032=) c.3078G>C (p.Gly1026=) | |
22 | g.50720932G= | CA2411007921 | SHANK3 | c.2700G= (p.Gly900=) n.3284G= c.1752G= (p.Gly584=) c.1242G= (p.Gly414=) c.*1698G= (n.*1698G=) c.3096G= (p.Gly1032=) c.3078G= (p.Gly1026=) | |
22 | g.50720932G>T | CA515260701 | SHANK3 | c.2700G>T (p.Gly900=) n.3284G>T c.1752G>T (p.Gly584=) c.1242G>T (p.Gly414=) c.*1698G>T (n.*1698G>T) c.3096G>T (p.Gly1032=) c.3078G>T (p.Gly1026=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720933_50720957del | CA915951508 | SHANK3 | c.2701_2725del (p.Ala901ArgfsTer?) n.3285_3309del c.1753_1777del (p.Ala585ArgfsTer?) c.1243_1267del (p.Ala415ArgfsTer?) c.*1699_*1723del (n.*1699_*1723del) c.3097_3121del (p.Ala1033ArgfsTer?) c.3079_3103del (p.Ala1027ArgfsTer?) | ClinVar dbSNP |
22 | g.50720933G>A | CA515260702 | SHANK3 | c.2701G>A (p.Ala901Thr) n.3285G>A c.1753G>A (p.Ala585Thr) c.1243G>A (p.Ala415Thr) c.*1699G>A (n.*1699G>A) c.3097G>A (p.Ala1033Thr) c.3079G>A (p.Ala1027Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720933G>C | CA515260703 | SHANK3 | c.2701G>C (p.Ala901Pro) n.3285G>C c.1753G>C (p.Ala585Pro) c.1243G>C (p.Ala415Pro) c.*1699G>C (n.*1699G>C) c.3097G>C (p.Ala1033Pro) c.3079G>C (p.Ala1027Pro) | gnomAD v4 |
22 | g.50720933G= | CA2411007922 | SHANK3 | c.2701G= (p.Ala901=) n.3285G= c.1753G= (p.Ala585=) c.1243G= (p.Ala415=) c.*1699G= (n.*1699G=) c.3097G= (p.Ala1033=) c.3079G= (p.Ala1027=) | |
22 | g.50720933G>T | CA515260704 | SHANK3 | c.2701G>T (p.Ala901Ser) n.3285G>T c.1753G>T (p.Ala585Ser) c.1243G>T (p.Ala415Ser) c.*1699G>T (n.*1699G>T) c.3097G>T (p.Ala1033Ser) c.3079G>T (p.Ala1027Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720934C>A | CA515260706 | SHANK3 | c.2702C>A (p.Ala901Asp) n.3286C>A c.1754C>A (p.Ala585Asp) c.1244C>A (p.Ala415Asp) c.*1700C>A (n.*1700C>A) c.3098C>A (p.Ala1033Asp) c.3080C>A (p.Ala1027Asp) | gnomAD v4 |
22 | g.50720934C>G | CA515260707 | SHANK3 | c.2702C>G (p.Ala901Gly) n.3286C>G c.1754C>G (p.Ala585Gly) c.1244C>G (p.Ala415Gly) c.*1700C>G (n.*1700C>G) c.3098C>G (p.Ala1033Gly) c.3080C>G (p.Ala1027Gly) | |
22 | g.50720934C>T | CA515260705 | SHANK3 | c.2702C>T (p.Ala901Val) n.3286C>T c.1754C>T (p.Ala585Val) c.1244C>T (p.Ala415Val) c.*1700C>T (n.*1700C>T) c.3098C>T (p.Ala1033Val) c.3080C>T (p.Ala1027Val) | gnomAD v4 |
22 | g.50720935C>A | CA515260708 | SHANK3 | c.2703C>A (p.Ala901=) n.3287C>A c.1755C>A (p.Ala585=) c.1245C>A (p.Ala415=) c.*1701C>A (n.*1701C>A) c.3099C>A (p.Ala1033=) c.3081C>A (p.Ala1027=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720935C= | CA2411007923 | SHANK3 | c.2703C= (p.Ala901=) n.3287C= c.1755C= (p.Ala585=) c.1245C= (p.Ala415=) c.*1701C= (n.*1701C=) c.3099C= (p.Ala1033=) c.3081C= (p.Ala1027=) | |
22 | g.50720935C>G | CA515260709 | SHANK3 | c.2703C>G (p.Ala901=) n.3287C>G c.1755C>G (p.Ala585=) c.1245C>G (p.Ala415=) c.*1701C>G (n.*1701C>G) c.3099C>G (p.Ala1033=) c.3081C>G (p.Ala1027=) | |
22 | g.50720935C>T | CA515260710 | SHANK3 | c.2703C>T (p.Ala901=) n.3287C>T c.1755C>T (p.Ala585=) c.1245C>T (p.Ala415=) c.*1701C>T (n.*1701C>T) c.3099C>T (p.Ala1033=) c.3081C>T (p.Ala1027=) | dbSNP gnomAD v4 |
22 | g.50720936A= | CA2411007924 | SHANK3 | c.2704A= (p.Ile902=) n.3288A= c.1756A= (p.Ile586=) c.1246A= (p.Ile416=) c.*1702A= (n.*1702A=) c.3100A= (p.Ile1034=) c.3082A= (p.Ile1028=) | |
22 | g.50720936A>C | CA515260711 | SHANK3 | c.2704A>C (p.Ile902Leu) n.3288A>C c.1756A>C (p.Ile586Leu) c.1246A>C (p.Ile416Leu) c.*1702A>C (n.*1702A>C) c.3100A>C (p.Ile1034Leu) c.3082A>C (p.Ile1028Leu) | gnomAD v4 |
22 | g.50720936A>G | CA515260712 | SHANK3 | c.2704A>G (p.Ile902Val) n.3288A>G c.1756A>G (p.Ile586Val) c.1246A>G (p.Ile416Val) c.*1702A>G (n.*1702A>G) c.3100A>G (p.Ile1034Val) c.3082A>G (p.Ile1028Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720936A>T | CA515260713 | SHANK3 | c.2704A>T (p.Ile902Phe) n.3288A>T c.1756A>T (p.Ile586Phe) c.1246A>T (p.Ile416Phe) c.*1702A>T (n.*1702A>T) c.3100A>T (p.Ile1034Phe) c.3082A>T (p.Ile1028Phe) | |
22 | g.50720937T>A | CA515260714 | SHANK3 | c.2705T>A (p.Ile902Asn) n.3289T>A c.1757T>A (p.Ile586Asn) c.1247T>A (p.Ile416Asn) c.*1703T>A (n.*1703T>A) c.3101T>A (p.Ile1034Asn) c.3083T>A (p.Ile1028Asn) | |
22 | g.50720937T>C | CA515260715 | SHANK3 | c.2705T>C (p.Ile902Thr) n.3289T>C c.1757T>C (p.Ile586Thr) c.1247T>C (p.Ile416Thr) c.*1703T>C (n.*1703T>C) c.3101T>C (p.Ile1034Thr) c.3083T>C (p.Ile1028Thr) | gnomAD v4 |
22 | g.50720937T>G | CA515260716 | SHANK3 | c.2705T>G (p.Ile902Ser) n.3289T>G c.1757T>G (p.Ile586Ser) c.1247T>G (p.Ile416Ser) c.*1703T>G (n.*1703T>G) c.3101T>G (p.Ile1034Ser) c.3083T>G (p.Ile1028Ser) | |
22 | g.50720938C>A | CA515260717 | SHANK3 | c.2706C>A (p.Ile902=) n.3290C>A c.1758C>A (p.Ile586=) c.1248C>A (p.Ile416=) c.*1704C>A (n.*1704C>A) c.3102C>A (p.Ile1034=) c.3084C>A (p.Ile1028=) | gnomAD v4 |
22 | g.50720938C= | CA2411007925 | SHANK3 | c.2706C= (p.Ile902=) n.3290C= c.1758C= (p.Ile586=) c.1248C= (p.Ile416=) c.*1704C= (n.*1704C=) c.3102C= (p.Ile1034=) c.3084C= (p.Ile1028=) | |
22 | g.50720938C>G | CA515260718 | SHANK3 | c.2706C>G (p.Ile902Met) n.3290C>G c.1758C>G (p.Ile586Met) c.1248C>G (p.Ile416Met) c.*1704C>G (n.*1704C>G) c.3102C>G (p.Ile1034Met) c.3084C>G (p.Ile1028Met) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720938C>T | CA515260719 | SHANK3 | c.2706C>T (p.Ile902=) n.3290C>T c.1758C>T (p.Ile586=) c.1248C>T (p.Ile416=) c.*1704C>T (n.*1704C>T) c.3102C>T (p.Ile1034=) c.3084C>T (p.Ile1028=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720939G>A | CA515260722 | SHANK3 | c.2707G>A (p.Glu903Lys) n.3291G>A c.1759G>A (p.Glu587Lys) c.1249G>A (p.Glu417Lys) c.*1705G>A (n.*1705G>A) c.3103G>A (p.Glu1035Lys) c.3085G>A (p.Glu1029Lys) | gnomAD v4 |
22 | g.50720939G>C | CA515260720 | SHANK3 | c.2707G>C (p.Glu903Gln) n.3291G>C c.1759G>C (p.Glu587Gln) c.1249G>C (p.Glu417Gln) c.*1705G>C (n.*1705G>C) c.3103G>C (p.Glu1035Gln) c.3085G>C (p.Glu1029Gln) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720939G= | CA2411007926 | SHANK3 | c.2707G= (p.Glu903=) n.3291G= c.1759G= (p.Glu587=) c.1249G= (p.Glu417=) c.*1705G= (n.*1705G=) c.3103G= (p.Glu1035=) c.3085G= (p.Glu1029=) | |
22 | g.50720939G>T | CA515260721 | SHANK3 | c.2707G>T (p.Glu903Ter) n.3291G>T c.1759G>T (p.Glu587Ter) c.1249G>T (p.Glu417Ter) c.*1705G>T (n.*1705G>T) c.3103G>T (p.Glu1035Ter) c.3085G>T (p.Glu1029Ter) | gnomAD v4 |
22 | g.50720940A>C | CA515260723 | SHANK3 | c.2708A>C (p.Glu903Ala) n.3292A>C c.1760A>C (p.Glu587Ala) c.1250A>C (p.Glu417Ala) c.*1706A>C (n.*1706A>C) c.3104A>C (p.Glu1035Ala) c.3086A>C (p.Glu1029Ala) | |
22 | g.50720940A>G | CA515260724 | SHANK3 | c.2708A>G (p.Glu903Gly) n.3292A>G c.1760A>G (p.Glu587Gly) c.1250A>G (p.Glu417Gly) c.*1706A>G (n.*1706A>G) c.3104A>G (p.Glu1035Gly) c.3086A>G (p.Glu1029Gly) | gnomAD v4 |
22 | g.50720940A>T | CA515260725 | SHANK3 | c.2708A>T (p.Glu903Val) n.3292A>T c.1760A>T (p.Glu587Val) c.1250A>T (p.Glu417Val) c.*1706A>T (n.*1706A>T) c.3104A>T (p.Glu1035Val) c.3086A>T (p.Glu1029Val) | |
22 | g.50720941G>A | CA515260726 | SHANK3 | c.2709G>A (p.Glu903=) n.3293G>A c.1761G>A (p.Glu587=) c.1251G>A (p.Glu417=) c.*1707G>A (n.*1707G>A) c.3105G>A (p.Glu1035=) c.3087G>A (p.Glu1029=) | gnomAD v4 |
22 | g.50720941G>C | CA515260727 | SHANK3 | c.2709G>C (p.Glu903Asp) n.3293G>C c.1761G>C (p.Glu587Asp) c.1251G>C (p.Glu417Asp) c.*1707G>C (n.*1707G>C) c.3105G>C (p.Glu1035Asp) c.3087G>C (p.Glu1029Asp) | |
22 | g.50720941G>T | CA515260728 | SHANK3 | c.2709G>T (p.Glu903Asp) n.3293G>T c.1761G>T (p.Glu587Asp) c.1251G>T (p.Glu417Asp) c.*1707G>T (n.*1707G>T) c.3105G>T (p.Glu1035Asp) c.3087G>T (p.Glu1029Asp) | gnomAD v4 |
22 | g.50720943del | CA2657583420 | SHANK3 | c.2711del (p.Gly904AlafsTer?) n.3295del c.1763del (p.Gly588AlafsTer?) c.1253del (p.Gly418AlafsTer?) c.*1709del (n.*1709del) c.3107del (p.Gly1036AlafsTer?) c.3089del (p.Gly1030AlafsTer?) | gnomAD v4 |
22 | g.50720942G>A | CA515260730 | SHANK3 | c.2710G>A (p.Gly904Ser) n.3294G>A c.1762G>A (p.Gly588Ser) c.1252G>A (p.Gly418Ser) c.*1708G>A (n.*1708G>A) c.3106G>A (p.Gly1036Ser) c.3088G>A (p.Gly1030Ser) | gnomAD v4 |
22 | g.50720942G>C | CA515260731 | SHANK3 | c.2710G>C (p.Gly904Arg) n.3294G>C c.1762G>C (p.Gly588Arg) c.1252G>C (p.Gly418Arg) c.*1708G>C (n.*1708G>C) c.3106G>C (p.Gly1036Arg) c.3088G>C (p.Gly1030Arg) | |
22 | g.50720942G>T | CA515260732 | SHANK3 | c.2710G>T (p.Gly904Cys) n.3294G>T c.1762G>T (p.Gly588Cys) c.1252G>T (p.Gly418Cys) c.*1708G>T (n.*1708G>T) c.3106G>T (p.Gly1036Cys) c.3088G>T (p.Gly1030Cys) | gnomAD v4 |
22 | g.50720943G>A | CA515260733 | SHANK3 | c.2711G>A (p.Gly904Asp) n.3295G>A c.1763G>A (p.Gly588Asp) c.1253G>A (p.Gly418Asp) c.*1709G>A (n.*1709G>A) c.3107G>A (p.Gly1036Asp) c.3089G>A (p.Gly1030Asp) | gnomAD v4 |
22 | g.50720943G>C | CA515260734 | SHANK3 | c.2711G>C (p.Gly904Ala) n.3295G>C c.1763G>C (p.Gly588Ala) c.1253G>C (p.Gly418Ala) c.*1709G>C (n.*1709G>C) c.3107G>C (p.Gly1036Ala) c.3089G>C (p.Gly1030Ala) | |
22 | g.50720943G= | CA2411007927 | SHANK3 | c.2711G= (p.Gly904=) n.3295G= c.1763G= (p.Gly588=) c.1253G= (p.Gly418=) c.*1709G= (n.*1709G=) c.3107G= (p.Gly1036=) c.3089G= (p.Gly1030=) | |
22 | g.50720943G>T | CA515260735 | SHANK3 | c.2711G>T (p.Gly904Val) n.3295G>T c.1763G>T (p.Gly588Val) c.1253G>T (p.Gly418Val) c.*1709G>T (n.*1709G>T) c.3107G>T (p.Gly1036Val) c.3089G>T (p.Gly1030Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720944C>A | CA515260738 | SHANK3 | c.2712C>A (p.Gly904=) n.3296C>A c.1764C>A (p.Gly588=) c.1254C>A (p.Gly418=) c.*1710C>A (n.*1710C>A) c.3108C>A (p.Gly1036=) c.3090C>A (p.Gly1030=) | |
22 | g.50720944C>G | CA515260737 | SHANK3 | c.2712C>G (p.Gly904=) n.3296C>G c.1764C>G (p.Gly588=) c.1254C>G (p.Gly418=) c.*1710C>G (n.*1710C>G) c.3108C>G (p.Gly1036=) c.3090C>G (p.Gly1030=) | |
22 | g.50720944C>T | CA515260736 | SHANK3 | c.2712C>T (p.Gly904=) n.3296C>T c.1764C>T (p.Gly588=) c.1254C>T (p.Gly418=) c.*1710C>T (n.*1710C>T) c.3108C>T (p.Gly1036=) c.3090C>T (p.Gly1030=) | gnomAD v4 |
22 | g.50720945A= | CA2411007928 | SHANK3 | c.2713A= (p.Ser905=) n.3297A= c.1765A= (p.Ser589=) c.1255A= (p.Ser419=) c.*1711A= (n.*1711A=) c.3109A= (p.Ser1037=) c.3091A= (p.Ser1031=) | |
22 | g.50720945A>C | CA515260739 | SHANK3 | c.2713A>C (p.Ser905Arg) n.3297A>C c.1765A>C (p.Ser589Arg) c.1255A>C (p.Ser419Arg) c.*1711A>C (n.*1711A>C) c.3109A>C (p.Ser1037Arg) c.3091A>C (p.Ser1031Arg) | |
22 | g.50720945A>G | CA325578461 | SHANK3 | c.2713A>G (p.Ser905Gly) n.3297A>G c.1765A>G (p.Ser589Gly) c.1255A>G (p.Ser419Gly) c.*1711A>G (n.*1711A>G) c.3109A>G (p.Ser1037Gly) c.3091A>G (p.Ser1031Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720945A>T | CA515260740 | SHANK3 | c.2713A>T (p.Ser905Cys) n.3297A>T c.1765A>T (p.Ser589Cys) c.1255A>T (p.Ser419Cys) c.*1711A>T (n.*1711A>T) c.3109A>T (p.Ser1037Cys) c.3091A>T (p.Ser1031Cys) | |
22 | g.50720946G>A | CA515260741 | SHANK3 | c.2714G>A (p.Ser905Asn) n.3298G>A c.1766G>A (p.Ser589Asn) c.1256G>A (p.Ser419Asn) c.*1712G>A (n.*1712G>A) c.3110G>A (p.Ser1037Asn) c.3092G>A (p.Ser1031Asn) | gnomAD v4 |
22 | g.50720946G>C | CA515260742 | SHANK3 | c.2714G>C (p.Ser905Thr) n.3298G>C c.1766G>C (p.Ser589Thr) c.1256G>C (p.Ser419Thr) c.*1712G>C (n.*1712G>C) c.3110G>C (p.Ser1037Thr) c.3092G>C (p.Ser1031Thr) | dbSNP gnomAD v4 |
22 | g.50720946G= | CA2411007929 | SHANK3 | c.2714G= (p.Ser905=) n.3298G= c.1766G= (p.Ser589=) c.1256G= (p.Ser419=) c.*1712G= (n.*1712G=) c.3110G= (p.Ser1037=) c.3092G= (p.Ser1031=) | |
22 | g.50720946G>T | CA515260743 | SHANK3 | c.2714G>T (p.Ser905Ile) n.3298G>T c.1766G>T (p.Ser589Ile) c.1256G>T (p.Ser419Ile) c.*1712G>T (n.*1712G>T) c.3110G>T (p.Ser1037Ile) c.3092G>T (p.Ser1031Ile) | gnomAD v4 |
22 | g.50720947C>A | CA10325955 | SHANK3 | c.2715C>A (p.Ser905Arg) n.3299C>A c.1767C>A (p.Ser589Arg) c.1257C>A (p.Ser419Arg) c.*1713C>A (n.*1713C>A) c.3111C>A (p.Ser1037Arg) c.3093C>A (p.Ser1031Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720947C= | CA2411007930 | SHANK3 | c.2715C= (p.Ser905=) n.3299C= c.1767C= (p.Ser589=) c.1257C= (p.Ser419=) c.*1713C= (n.*1713C=) c.3111C= (p.Ser1037=) c.3093C= (p.Ser1031=) | |
22 | g.50720947C>G | CA515260744 | SHANK3 | c.2715C>G (p.Ser905Arg) n.3299C>G c.1767C>G (p.Ser589Arg) c.1257C>G (p.Ser419Arg) c.*1713C>G (n.*1713C>G) c.3111C>G (p.Ser1037Arg) c.3093C>G (p.Ser1031Arg) | |
22 | g.50720947C>T | CA10325954 | SHANK3 | c.2715C>T (p.Ser905=) n.3299C>T c.1767C>T (p.Ser589=) c.1257C>T (p.Ser419=) c.*1713C>T (n.*1713C>T) c.3111C>T (p.Ser1037=) c.3093C>T (p.Ser1031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720948G>A | CA10325956 | SHANK3 | c.2716G>A (p.Ala906Thr) n.3300G>A c.1768G>A (p.Ala590Thr) c.1258G>A (p.Ala420Thr) c.*1714G>A (n.*1714G>A) c.3112G>A (p.Ala1038Thr) c.3094G>A (p.Ala1032Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.50720948G>C | CA515260746 | SHANK3 | c.2716G>C (p.Ala906Pro) n.3300G>C c.1768G>C (p.Ala590Pro) c.1258G>C (p.Ala420Pro) c.*1714G>C (n.*1714G>C) c.3112G>C (p.Ala1038Pro) c.3094G>C (p.Ala1032Pro) | gnomAD v4 |
22 | g.50720948G= | CA2411007931 | SHANK3 | c.2716G= (p.Ala906=) n.3300G= c.1768G= (p.Ala590=) c.1258G= (p.Ala420=) c.*1714G= (n.*1714G=) c.3112G= (p.Ala1038=) c.3094G= (p.Ala1032=) | |
22 | g.50720948G>T | CA515260747 | SHANK3 | c.2716G>T (p.Ala906Ser) n.3300G>T c.1768G>T (p.Ala590Ser) c.1258G>T (p.Ala420Ser) c.*1714G>T (n.*1714G>T) c.3112G>T (p.Ala1038Ser) c.3094G>T (p.Ala1032Ser) | |
22 | g.50720948_50720949delinsGC | CA2411007932 | SHANK3 | c.2716_2717delinsGC (p.Ala906=) n.3300_3301delinsGC c.1768_1769delinsGC (p.Ala590=) c.1258_1259delinsGC (p.Ala420=) c.*1714_*1715delinsGC (n.*1714_*1715delinsGC) c.3112_3113delinsGC (p.Ala1038=) c.3094_3095delinsGC (p.Ala1032=) | |
22 | g.50720949C>A | CA515260748 | SHANK3 | c.2717C>A (p.Ala906Asp) n.3301C>A c.1769C>A (p.Ala590Asp) c.1259C>A (p.Ala420Asp) c.*1715C>A (n.*1715C>A) c.3113C>A (p.Ala1038Asp) c.3095C>A (p.Ala1032Asp) | ClinVar dbSNP gnomAD v4 |
22 | g.50720949C= | CA2411007933 | SHANK3 | c.2717C= (p.Ala906=) n.3301C= c.1769C= (p.Ala590=) c.1259C= (p.Ala420=) c.*1715C= (n.*1715C=) c.3113C= (p.Ala1038=) c.3095C= (p.Ala1032=) | |
22 | g.50720949C>G | CA515260749 | SHANK3 | c.2717C>G (p.Ala906Gly) n.3301C>G c.1769C>G (p.Ala590Gly) c.1259C>G (p.Ala420Gly) c.*1715C>G (n.*1715C>G) c.3113C>G (p.Ala1038Gly) c.3095C>G (p.Ala1032Gly) | |
22 | g.50720949C>T | CA10325957 | SHANK3 | c.2717C>T (p.Ala906Val) n.3301C>T c.1769C>T (p.Ala590Val) c.1259C>T (p.Ala420Val) c.*1715C>T (n.*1715C>T) c.3113C>T (p.Ala1038Val) c.3095C>T (p.Ala1032Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720953dup | CA2657583421 | SHANK3 | c.2721dup (p.Gly908ArgfsTer?) n.3305dup c.1773dup (p.Gly592ArgfsTer?) c.1263dup (p.Gly422ArgfsTer?) c.*1719dup (n.*1719dup) c.3117dup (p.Gly1040ArgfsTer?) c.3099dup (p.Gly1034ArgfsTer?) | gnomAD v4 |
22 | g.50720953del | CA640358971 | SHANK3 | c.2721del (p.Gly908AlafsTer?) n.3305del c.1773del (p.Gly592AlafsTer?) c.1263del (p.Gly422AlafsTer?) c.*1719del (n.*1719del) c.3117del (p.Gly1040AlafsTer?) c.3099del (p.Gly1034AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720950C>A | CA515260750 | SHANK3 | c.2718C>A (p.Ala906=) n.3302C>A c.1770C>A (p.Ala590=) c.1260C>A (p.Ala420=) c.*1716C>A (n.*1716C>A) c.3114C>A (p.Ala1038=) c.3096C>A (p.Ala1032=) | gnomAD v4 |
22 | g.50720950C= | CA2411007934 | SHANK3 | c.2718C= (p.Ala906=) n.3302C= c.1770C= (p.Ala590=) c.1260C= (p.Ala420=) c.*1716C= (n.*1716C=) c.3114C= (p.Ala1038=) c.3096C= (p.Ala1032=) | |
22 | g.50720950C>G | CA515260752 | SHANK3 | c.2718C>G (p.Ala906=) n.3302C>G c.1770C>G (p.Ala590=) c.1260C>G (p.Ala420=) c.*1716C>G (n.*1716C>G) c.3114C>G (p.Ala1038=) c.3096C>G (p.Ala1032=) | |
22 | g.50720950C>T | CA515260751 | SHANK3 | c.2718C>T (p.Ala906=) n.3302C>T c.1770C>T (p.Ala590=) c.1260C>T (p.Ala420=) c.*1716C>T (n.*1716C>T) c.3114C>T (p.Ala1038=) c.3096C>T (p.Ala1032=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720950_50720951insT | CA2552505268 | SHANK3 | c.2718_2719insT (p.Pro907SerfsTer?) n.3302_3303insT c.1770_1771insT (p.Pro591SerfsTer?) c.1260_1261insT (p.Pro421SerfsTer?) c.*1716_*1717insT (n.*1716_*1717insT) c.3114_3115insT (p.Pro1039SerfsTer?) c.3096_3097insT (p.Pro1033SerfsTer?) | |
22 | g.50720951C>A | CA515260753 | SHANK3 | c.2719C>A (p.Pro907Thr) n.3303C>A c.1771C>A (p.Pro591Thr) c.1261C>A (p.Pro421Thr) c.*1717C>A (n.*1717C>A) c.3115C>A (p.Pro1039Thr) c.3097C>A (p.Pro1033Thr) | gnomAD v4 |
22 | g.50720951C= | CA2411007935 | SHANK3 | c.2719C= (p.Pro907=) n.3303C= c.1771C= (p.Pro591=) c.1261C= (p.Pro421=) c.*1717C= (n.*1717C=) c.3115C= (p.Pro1039=) c.3097C= (p.Pro1033=) | |
22 | g.50720951C>G | CA515260754 | SHANK3 | c.2719C>G (p.Pro907Ala) n.3303C>G c.1771C>G (p.Pro591Ala) c.1261C>G (p.Pro421Ala) c.*1717C>G (n.*1717C>G) c.3115C>G (p.Pro1039Ala) c.3097C>G (p.Pro1033Ala) | gnomAD v4 |
22 | g.50720951C>T | CA10325958 | SHANK3 | c.2719C>T (p.Pro907Ser) n.3303C>T c.1771C>T (p.Pro591Ser) c.1261C>T (p.Pro421Ser) c.*1717C>T (n.*1717C>T) c.3115C>T (p.Pro1039Ser) c.3097C>T (p.Pro1033Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720951_50720952insT | CA2517862977 | SHANK3 | c.2719_2720insT (p.Pro907LeufsTer?) n.3303_3304insT c.1771_1772insT (p.Pro591LeufsTer?) c.1261_1262insT (p.Pro421LeufsTer?) c.*1717_*1718insT (n.*1717_*1718insT) c.3115_3116insT (p.Pro1039LeufsTer?) c.3097_3098insT (p.Pro1033LeufsTer?) | |
22 | g.50720952C>A | CA515260755 | SHANK3 | c.2720C>A (p.Pro907His) n.3304C>A c.1772C>A (p.Pro591His) c.1262C>A (p.Pro421His) c.*1718C>A (n.*1718C>A) c.3116C>A (p.Pro1039His) c.3098C>A (p.Pro1033His) | |
22 | g.50720952C= | CA2411007936 | SHANK3 | c.2720C= (p.Pro907=) n.3304C= c.1772C= (p.Pro591=) c.1262C= (p.Pro421=) c.*1718C= (n.*1718C=) c.3116C= (p.Pro1039=) c.3098C= (p.Pro1033=) | |
22 | g.50720952C>G | CA515260756 | SHANK3 | c.2720C>G (p.Pro907Arg) n.3304C>G c.1772C>G (p.Pro591Arg) c.1262C>G (p.Pro421Arg) c.*1718C>G (n.*1718C>G) c.3116C>G (p.Pro1039Arg) c.3098C>G (p.Pro1033Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720952C>T | CA515260757 | SHANK3 | c.2720C>T (p.Pro907Leu) n.3304C>T c.1772C>T (p.Pro591Leu) c.1262C>T (p.Pro421Leu) c.*1718C>T (n.*1718C>T) c.3116C>T (p.Pro1039Leu) c.3098C>T (p.Pro1033Leu) | gnomAD v4 |
22 | g.50720953C>A | CA515260758 | SHANK3 | c.2721C>A (p.Pro907=) n.3305C>A c.1773C>A (p.Pro591=) c.1263C>A (p.Pro421=) c.*1719C>A (n.*1719C>A) c.3117C>A (p.Pro1039=) c.3099C>A (p.Pro1033=) | gnomAD v4 |
22 | g.50720953C= | CA2411007937 | SHANK3 | c.2721C= (p.Pro907=) n.3305C= c.1773C= (p.Pro591=) c.1263C= (p.Pro421=) c.*1719C= (n.*1719C=) c.3117C= (p.Pro1039=) c.3099C= (p.Pro1033=) | |
22 | g.50720953C>G | CA515260759 | SHANK3 | c.2721C>G (p.Pro907=) n.3305C>G c.1773C>G (p.Pro591=) c.1263C>G (p.Pro421=) c.*1719C>G (n.*1719C>G) c.3117C>G (p.Pro1039=) c.3099C>G (p.Pro1033=) | gnomAD v4 |
22 | g.50720953C>T | CA10325959 | SHANK3 | c.2721C>T (p.Pro907=) n.3305C>T c.1773C>T (p.Pro591=) c.1263C>T (p.Pro421=) c.*1719C>T (n.*1719C>T) c.3117C>T (p.Pro1039=) c.3099C>T (p.Pro1033=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720954G>A | CA515260760 | SHANK3 | c.2722G>A (p.Gly908Ser) n.3306G>A c.1774G>A (p.Gly592Ser) c.1264G>A (p.Gly422Ser) c.*1720G>A (n.*1720G>A) c.3118G>A (p.Gly1040Ser) c.3100G>A (p.Gly1034Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720954G>C | CA515260761 | SHANK3 | c.2722G>C (p.Gly908Arg) n.3306G>C c.1774G>C (p.Gly592Arg) c.1264G>C (p.Gly422Arg) c.*1720G>C (n.*1720G>C) c.3118G>C (p.Gly1040Arg) c.3100G>C (p.Gly1034Arg) | gnomAD v4 |
22 | g.50720954G= | CA2411007938 | SHANK3 | c.2722G= (p.Gly908=) n.3306G= c.1774G= (p.Gly592=) c.1264G= (p.Gly422=) c.*1720G= (n.*1720G=) c.3118G= (p.Gly1040=) c.3100G= (p.Gly1034=) | |
22 | g.50720954G>T | CA515260762 | SHANK3 | c.2722G>T (p.Gly908Cys) n.3306G>T c.1774G>T (p.Gly592Cys) c.1264G>T (p.Gly422Cys) c.*1720G>T (n.*1720G>T) c.3118G>T (p.Gly1040Cys) c.3100G>T (p.Gly1034Cys) | gnomAD v4 |
22 | g.50720954_50720955insA | CA2565485691 | SHANK3 | c.2722_2723insA (p.Gly908GlufsTer?) n.3306_3307insA c.1774_1775insA (p.Gly592GlufsTer?) c.1264_1265insA (p.Gly422GlufsTer?) c.*1720_*1721insA (n.*1720_*1721insA) c.3118_3119insA (p.Gly1040GlufsTer?) c.3100_3101insA (p.Gly1034GlufsTer?) | |
22 | g.50720955G>A | CA515260763 | SHANK3 | c.2723G>A (p.Gly908Asp) n.3307G>A c.1775G>A (p.Gly592Asp) c.1265G>A (p.Gly422Asp) c.*1721G>A (n.*1721G>A) c.3119G>A (p.Gly1040Asp) c.3101G>A (p.Gly1034Asp) | dbSNP gnomAD v4 |
22 | g.50720955G>C | CA515260765 | SHANK3 | c.2723G>C (p.Gly908Ala) n.3307G>C c.1775G>C (p.Gly592Ala) c.1265G>C (p.Gly422Ala) c.*1721G>C (n.*1721G>C) c.3119G>C (p.Gly1040Ala) c.3101G>C (p.Gly1034Ala) | dbSNP gnomAD v2 |
22 | g.50720955G= | CA2411007939 | SHANK3 | c.2723G= (p.Gly908=) n.3307G= c.1775G= (p.Gly592=) c.1265G= (p.Gly422=) c.*1721G= (n.*1721G=) c.3119G= (p.Gly1040=) c.3101G= (p.Gly1034=) | |
22 | g.50720955G>T | CA515260764 | SHANK3 | c.2723G>T (p.Gly908Val) n.3307G>T c.1775G>T (p.Gly592Val) c.1265G>T (p.Gly422Val) c.*1721G>T (n.*1721G>T) c.3119G>T (p.Gly1040Val) c.3101G>T (p.Gly1034Val) | gnomAD v4 |
22 | g.50720956C>A | CA515260766 | SHANK3 | c.2724C>A (p.Gly908=) n.3308C>A c.1776C>A (p.Gly592=) c.1266C>A (p.Gly422=) c.*1722C>A (n.*1722C>A) c.3120C>A (p.Gly1040=) c.3102C>A (p.Gly1034=) | |
22 | g.50720956C= | CA2411007940 | SHANK3 | c.2724C= (p.Gly908=) n.3308C= c.1776C= (p.Gly592=) c.1266C= (p.Gly422=) c.*1722C= (n.*1722C=) c.3120C= (p.Gly1040=) c.3102C= (p.Gly1034=) | |
22 | g.50720956C>G | CA515260767 | SHANK3 | c.2724C>G (p.Gly908=) n.3308C>G c.1776C>G (p.Gly592=) c.1266C>G (p.Gly422=) c.*1722C>G (n.*1722C>G) c.3120C>G (p.Gly1040=) c.3102C>G (p.Gly1034=) | |
22 | g.50720956C>T | CA10325960 | SHANK3 | c.2724C>T (p.Gly908=) n.3308C>T c.1776C>T (p.Gly592=) c.1266C>T (p.Gly422=) c.*1722C>T (n.*1722C>T) c.3120C>T (p.Gly1040=) c.3102C>T (p.Gly1034=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720957G>A | CA515260768 | SHANK3 | c.2725G>A (p.Ala909Thr) n.3309G>A c.1777G>A (p.Ala593Thr) c.1267G>A (p.Ala423Thr) c.*1723G>A (n.*1723G>A) c.3121G>A (p.Ala1041Thr) c.3103G>A (p.Ala1035Thr) | gnomAD v4 |
22 | g.50720957G>C | CA515260769 | SHANK3 | c.2725G>C (p.Ala909Pro) n.3309G>C c.1777G>C (p.Ala593Pro) c.1267G>C (p.Ala423Pro) c.*1723G>C (n.*1723G>C) c.3121G>C (p.Ala1041Pro) c.3103G>C (p.Ala1035Pro) | |
22 | g.50720957G>T | CA515260770 | SHANK3 | c.2725G>T (p.Ala909Ser) n.3309G>T c.1777G>T (p.Ala593Ser) c.1267G>T (p.Ala423Ser) c.*1723G>T (n.*1723G>T) c.3121G>T (p.Ala1041Ser) c.3103G>T (p.Ala1035Ser) | gnomAD v4 |
22 | g.50720958C>A | CA515260771 | SHANK3 | c.2726C>A (p.Ala909Glu) n.3310C>A c.1778C>A (p.Ala593Glu) c.1268C>A (p.Ala423Glu) c.*1724C>A (n.*1724C>A) c.3122C>A (p.Ala1041Glu) c.3104C>A (p.Ala1035Glu) | gnomAD v4 |
22 | g.50720958C>G | CA515260772 | SHANK3 | c.2726C>G (p.Ala909Gly) n.3310C>G c.1778C>G (p.Ala593Gly) c.1268C>G (p.Ala423Gly) c.*1724C>G (n.*1724C>G) c.3122C>G (p.Ala1041Gly) c.3104C>G (p.Ala1035Gly) | |
22 | g.50720958C>T | CA515260773 | SHANK3 | c.2726C>T (p.Ala909Val) n.3310C>T c.1778C>T (p.Ala593Val) c.1268C>T (p.Ala423Val) c.*1724C>T (n.*1724C>T) c.3122C>T (p.Ala1041Val) c.3104C>T (p.Ala1035Val) | gnomAD v4 |
22 | g.50720959G>A | CA515260774 | SHANK3 | c.2727G>A (p.Ala909=) n.3311G>A c.1779G>A (p.Ala593=) c.1269G>A (p.Ala423=) c.*1725G>A (n.*1725G>A) c.3123G>A (p.Ala1041=) c.3105G>A (p.Ala1035=) | |
22 | g.50720959G>C | CA515260775 | SHANK3 | c.2727G>C (p.Ala909=) n.3311G>C c.1779G>C (p.Ala593=) c.1269G>C (p.Ala423=) c.*1725G>C (n.*1725G>C) c.3123G>C (p.Ala1041=) c.3105G>C (p.Ala1035=) | |
22 | g.50720959G= | CA2411007941 | SHANK3 | c.2727G= (p.Ala909=) n.3311G= c.1779G= (p.Ala593=) c.1269G= (p.Ala423=) c.*1725G= (n.*1725G=) c.3123G= (p.Ala1041=) c.3105G= (p.Ala1035=) | |
22 | g.50720959G>T | CA515260776 | SHANK3 | c.2727G>T (p.Ala909=) n.3311G>T c.1779G>T (p.Ala593=) c.1269G>T (p.Ala423=) c.*1725G>T (n.*1725G>T) c.3123G>T (p.Ala1041=) c.3105G>T (p.Ala1035=) | dbSNP gnomAD v4 |
22 | g.50720960G>A | CA515260780 | SHANK3 | c.2728G>A (p.Asp910Asn) n.3312G>A c.1780G>A (p.Asp594Asn) c.1270G>A (p.Asp424Asn) c.*1726G>A (n.*1726G>A) c.3124G>A (p.Asp1042Asn) c.3106G>A (p.Asp1036Asn) | |
22 | g.50720960G>C | CA515260777 | SHANK3 | c.2728G>C (p.Asp910His) n.3312G>C c.1780G>C (p.Asp594His) c.1270G>C (p.Asp424His) c.*1726G>C (n.*1726G>C) c.3124G>C (p.Asp1042His) c.3106G>C (p.Asp1036His) | ClinVar |
22 | g.50720960G>T | CA515260779 | SHANK3 | c.2728G>T (p.Asp910Tyr) n.3312G>T c.1780G>T (p.Asp594Tyr) c.1270G>T (p.Asp424Tyr) c.*1726G>T (n.*1726G>T) c.3124G>T (p.Asp1042Tyr) c.3106G>T (p.Asp1036Tyr) | gnomAD v4 |
22 | g.50720961A= | CA2411007942 | SHANK3 | c.2729A= (p.Asp910=) n.3313A= c.1781A= (p.Asp594=) c.1271A= (p.Asp424=) c.*1727A= (n.*1727A=) c.3125A= (p.Asp1042=) c.3107A= (p.Asp1036=) | |
22 | g.50720961A>C | CA16621139 | SHANK3 | c.2729A>C (p.Asp910Ala) n.3313A>C c.1781A>C (p.Asp594Ala) c.1271A>C (p.Asp424Ala) c.*1727A>C (n.*1727A>C) c.3125A>C (p.Asp1042Ala) c.3107A>C (p.Asp1036Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720961A>G | CA515260781 | SHANK3 | c.2729A>G (p.Asp910Gly) n.3313A>G c.1781A>G (p.Asp594Gly) c.1271A>G (p.Asp424Gly) c.*1727A>G (n.*1727A>G) c.3125A>G (p.Asp1042Gly) c.3107A>G (p.Asp1036Gly) | |
22 | g.50720961A>T | CA515260782 | SHANK3 | c.2729A>T (p.Asp910Val) n.3313A>T c.1781A>T (p.Asp594Val) c.1271A>T (p.Asp424Val) c.*1727A>T (n.*1727A>T) c.3125A>T (p.Asp1042Val) c.3107A>T (p.Asp1036Val) | |
22 | g.50720962T>A | CA515260783 | SHANK3 | c.2730T>A (p.Asp910Glu) n.3314T>A c.1782T>A (p.Asp594Glu) c.1272T>A (p.Asp424Glu) c.*1728T>A (n.*1728T>A) c.3126T>A (p.Asp1042Glu) c.3108T>A (p.Asp1036Glu) | |
22 | g.50720962T>C | CA515260784 | SHANK3 | c.2730T>C (p.Asp910=) n.3314T>C c.1782T>C (p.Asp594=) c.1272T>C (p.Asp424=) c.*1728T>C (n.*1728T>C) c.3126T>C (p.Asp1042=) c.3108T>C (p.Asp1036=) | |
22 | g.50720962T>G | CA515260785 | SHANK3 | c.2730T>G (p.Asp910Glu) n.3314T>G c.1782T>G (p.Asp594Glu) c.1272T>G (p.Asp424Glu) c.*1728T>G (n.*1728T>G) c.3126T>G (p.Asp1042Glu) c.3108T>G (p.Asp1036Glu) | |
22 | g.50720963C>A | CA515260786 | SHANK3 | c.2731C>A (p.Leu911Met) n.3315C>A c.1783C>A (p.Leu595Met) c.1273C>A (p.Leu425Met) c.*1729C>A (n.*1729C>A) c.3127C>A (p.Leu1043Met) c.3109C>A (p.Leu1037Met) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720963C= | CA2411007943 | SHANK3 | c.2731C= (p.Leu911=) n.3315C= c.1783C= (p.Leu595=) c.1273C= (p.Leu425=) c.*1729C= (n.*1729C=) c.3127C= (p.Leu1043=) c.3109C= (p.Leu1037=) | |
22 | g.50720963C>G | CA515260787 | SHANK3 | c.2731C>G (p.Leu911Val) n.3315C>G c.1783C>G (p.Leu595Val) c.1273C>G (p.Leu425Val) c.*1729C>G (n.*1729C>G) c.3127C>G (p.Leu1043Val) c.3109C>G (p.Leu1037Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720963C>T | CA10325961 | SHANK3 | c.2731C>T (p.Leu911=) n.3315C>T c.1783C>T (p.Leu595=) c.1273C>T (p.Leu425=) c.*1729C>T (n.*1729C>T) c.3127C>T (p.Leu1043=) c.3109C>T (p.Leu1037=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720964T>A | CA515260788 | SHANK3 | c.2732T>A (p.Leu911Gln) n.3316T>A c.1784T>A (p.Leu595Gln) c.1274T>A (p.Leu425Gln) c.*1730T>A (n.*1730T>A) c.3128T>A (p.Leu1043Gln) c.3110T>A (p.Leu1037Gln) | |
22 | g.50720964T>C | CA515260789 | SHANK3 | c.2732T>C (p.Leu911Pro) n.3316T>C c.1784T>C (p.Leu595Pro) c.1274T>C (p.Leu425Pro) c.*1730T>C (n.*1730T>C) c.3128T>C (p.Leu1043Pro) c.3110T>C (p.Leu1037Pro) | ClinVar |
22 | g.50720964T>G | CA515260790 | SHANK3 | c.2732T>G (p.Leu911Arg) n.3316T>G c.1784T>G (p.Leu595Arg) c.1274T>G (p.Leu425Arg) c.*1730T>G (n.*1730T>G) c.3128T>G (p.Leu1043Arg) c.3110T>G (p.Leu1037Arg) | |
22 | g.50720965G>A | CA515260792 | SHANK3 | c.2733G>A (p.Leu911=) n.3317G>A c.1785G>A (p.Leu595=) c.1275G>A (p.Leu425=) c.*1731G>A (n.*1731G>A) c.3129G>A (p.Leu1043=) c.3111G>A (p.Leu1037=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720965G>C | CA515260793 | SHANK3 | c.2733G>C (p.Leu911=) n.3317G>C c.1785G>C (p.Leu595=) c.1275G>C (p.Leu425=) c.*1731G>C (n.*1731G>C) c.3129G>C (p.Leu1043=) c.3111G>C (p.Leu1037=) | dbSNP gnomAD v4 |
22 | g.50720965G= | CA2411007944 | SHANK3 | c.2733G= (p.Leu911=) n.3317G= c.1785G= (p.Leu595=) c.1275G= (p.Leu425=) c.*1731G= (n.*1731G=) c.3129G= (p.Leu1043=) c.3111G= (p.Leu1037=) | |
22 | g.50720965G>T | CA515260791 | SHANK3 | c.2733G>T (p.Leu911=) n.3317G>T c.1785G>T (p.Leu595=) c.1275G>T (p.Leu425=) c.*1731G>T (n.*1731G>T) c.3129G>T (p.Leu1043=) c.3111G>T (p.Leu1037=) | gnomAD v4 |
22 | g.50720966C>A | CA515260794 | SHANK3 | c.2734C>A (p.Pro912Thr) n.3318C>A c.1786C>A (p.Pro596Thr) c.1276C>A (p.Pro426Thr) c.*1732C>A (n.*1732C>A) c.3130C>A (p.Pro1044Thr) c.3112C>A (p.Pro1038Thr) | gnomAD v4 |
22 | g.50720966C= | CA2411007945 | SHANK3 | c.2734C= (p.Pro912=) n.3318C= c.1786C= (p.Pro596=) c.1276C= (p.Pro426=) c.*1732C= (n.*1732C=) c.3130C= (p.Pro1044=) c.3112C= (p.Pro1038=) | |
22 | g.50720966C>G | CA515260796 | SHANK3 | c.2734C>G (p.Pro912Ala) n.3318C>G c.1786C>G (p.Pro596Ala) c.1276C>G (p.Pro426Ala) c.*1732C>G (n.*1732C>G) c.3130C>G (p.Pro1044Ala) c.3112C>G (p.Pro1038Ala) | |
22 | g.50720966C>T | CA515260795 | SHANK3 | c.2734C>T (p.Pro912Ser) n.3318C>T c.1786C>T (p.Pro596Ser) c.1276C>T (p.Pro426Ser) c.*1732C>T (n.*1732C>T) c.3130C>T (p.Pro1044Ser) c.3112C>T (p.Pro1038Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720967C>A | CA515260797 | SHANK3 | c.2735C>A (p.Pro912Gln) n.3319C>A c.1787C>A (p.Pro596Gln) c.1277C>A (p.Pro426Gln) c.*1733C>A (n.*1733C>A) c.3131C>A (p.Pro1044Gln) c.3113C>A (p.Pro1038Gln) | |
22 | g.50720967C= | CA2411007946 | SHANK3 | c.2735C= (p.Pro912=) n.3319C= c.1787C= (p.Pro596=) c.1277C= (p.Pro426=) c.*1733C= (n.*1733C=) c.3131C= (p.Pro1044=) c.3113C= (p.Pro1038=) | |
22 | g.50720967C>G | CA515260798 | SHANK3 | c.2735C>G (p.Pro912Arg) n.3319C>G c.1787C>G (p.Pro596Arg) c.1277C>G (p.Pro426Arg) c.*1733C>G (n.*1733C>G) c.3131C>G (p.Pro1044Arg) c.3113C>G (p.Pro1038Arg) | gnomAD v4 |
22 | g.50720967C>T | CA515260799 | SHANK3 | c.2735C>T (p.Pro912Leu) n.3319C>T c.1787C>T (p.Pro596Leu) c.1277C>T (p.Pro426Leu) c.*1733C>T (n.*1733C>T) c.3131C>T (p.Pro1044Leu) c.3113C>T (p.Pro1038Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720968A= | CA2411007947 | SHANK3 | c.2736A= (p.Pro912=) n.3320A= c.1788A= (p.Pro596=) c.1278A= (p.Pro426=) c.*1734A= (n.*1734A=) c.3132A= (p.Pro1044=) c.3114A= (p.Pro1038=) | |
22 | g.50720968A>C | CA515260800 | SHANK3 | c.2736A>C (p.Pro912=) n.3320A>C c.1788A>C (p.Pro596=) c.1278A>C (p.Pro426=) c.*1734A>C (n.*1734A>C) c.3132A>C (p.Pro1044=) c.3114A>C (p.Pro1038=) | |
22 | g.50720968A>G | CA10325962 | SHANK3 | c.2736A>G (p.Pro912=) n.3320A>G c.1788A>G (p.Pro596=) c.1278A>G (p.Pro426=) c.*1734A>G (n.*1734A>G) c.3132A>G (p.Pro1044=) c.3114A>G (p.Pro1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720968A>T | CA515260801 | SHANK3 | c.2736A>T (p.Pro912=) n.3320A>T c.1788A>T (p.Pro596=) c.1278A>T (p.Pro426=) c.*1734A>T (n.*1734A>T) c.3132A>T (p.Pro1044=) c.3114A>T (p.Pro1038=) | |
22 | g.50720969T>A | CA515260802 | SHANK3 | c.2737T>A (p.Ser913Thr) n.3321T>A c.1789T>A (p.Ser597Thr) c.1279T>A (p.Ser427Thr) c.*1735T>A (n.*1735T>A) c.3133T>A (p.Ser1045Thr) c.3115T>A (p.Ser1039Thr) | |
22 | g.50720969T>C | CA515260803 | SHANK3 | c.2737T>C (p.Ser913Pro) n.3321T>C c.1789T>C (p.Ser597Pro) c.1279T>C (p.Ser427Pro) c.*1735T>C (n.*1735T>C) c.3133T>C (p.Ser1045Pro) c.3115T>C (p.Ser1039Pro) | |
22 | g.50720969T>G | CA515260804 | SHANK3 | c.2737T>G (p.Ser913Ala) n.3321T>G c.1789T>G (p.Ser597Ala) c.1279T>G (p.Ser427Ala) c.*1735T>G (n.*1735T>G) c.3133T>G (p.Ser1045Ala) c.3115T>G (p.Ser1039Ala) | |
22 | g.50720970C>A | CA515260805 | SHANK3 | c.2738C>A (p.Ser913Tyr) n.3322C>A c.1790C>A (p.Ser597Tyr) c.1280C>A (p.Ser427Tyr) c.*1736C>A (n.*1736C>A) c.3134C>A (p.Ser1045Tyr) c.3116C>A (p.Ser1039Tyr) | gnomAD v4 |
22 | g.50720970C= | CA2411007948 | SHANK3 | c.2738C= (p.Ser913=) n.3322C= c.1790C= (p.Ser597=) c.1280C= (p.Ser427=) c.*1736C= (n.*1736C=) c.3134C= (p.Ser1045=) c.3116C= (p.Ser1039=) | |
22 | g.50720970C>G | CA515260806 | SHANK3 | c.2738C>G (p.Ser913Cys) n.3322C>G c.1790C>G (p.Ser597Cys) c.1280C>G (p.Ser427Cys) c.*1736C>G (n.*1736C>G) c.3134C>G (p.Ser1045Cys) c.3116C>G (p.Ser1039Cys) | |
22 | g.50720970C>T | CA515260807 | SHANK3 | c.2738C>T (p.Ser913Phe) n.3322C>T c.1790C>T (p.Ser597Phe) c.1280C>T (p.Ser427Phe) c.*1736C>T (n.*1736C>T) c.3134C>T (p.Ser1045Phe) c.3116C>T (p.Ser1039Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |