Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.70473086A>C | CA381675389 | SHANK2 | c.3566T>G (p.Phe1189Cys) c.1111T>G (n.1111T>G) c.5333T>G (p.Phe1778Cys) c.2842T>G c.4196T>G (p.Phe1399Cys) c.3623T>G (p.Phe1208Cys) c.3569T>G (p.Phe1190Cys) c.*337T>G (n.*337T>G) c.3545T>G (p.Phe1182Cys) c.1109T>G c.3170T>G (p.Phe1057Cys) n.2085T>G n.1187T>G c.5303T>G (p.Phe1768Cys) c.5345T>G (p.Phe1782Cys) c.5324T>G (p.Phe1775Cys) c.5318T>G (p.Phe1773Cys) c.5297T>G (p.Phe1766Cys) c.4208T>G (p.Phe1403Cys) c.5306T>G (p.Phe1769Cys) n.1188T>G | |
11 | g.70473086A>G | CA381675395 | SHANK2 | c.3566T>C (p.Phe1189Ser) c.1111T>C (n.1111T>C) c.5333T>C (p.Phe1778Ser) c.2842T>C c.4196T>C (p.Phe1399Ser) c.3623T>C (p.Phe1208Ser) c.3569T>C (p.Phe1190Ser) c.*337T>C (n.*337T>C) c.3545T>C (p.Phe1182Ser) c.1109T>C c.3170T>C (p.Phe1057Ser) n.2085T>C n.1187T>C c.5303T>C (p.Phe1768Ser) c.5345T>C (p.Phe1782Ser) c.5324T>C (p.Phe1775Ser) c.5318T>C (p.Phe1773Ser) c.5297T>C (p.Phe1766Ser) c.4208T>C (p.Phe1403Ser) c.5306T>C (p.Phe1769Ser) n.1188T>C | |
11 | g.70473086A>T | CA381675392 | SHANK2 | c.3566T>A (p.Phe1189Tyr) c.1111T>A (n.1111T>A) c.5333T>A (p.Phe1778Tyr) c.2842T>A c.4196T>A (p.Phe1399Tyr) c.3623T>A (p.Phe1208Tyr) c.3569T>A (p.Phe1190Tyr) c.*337T>A (n.*337T>A) c.3545T>A (p.Phe1182Tyr) c.1109T>A c.3170T>A (p.Phe1057Tyr) n.2085T>A n.1187T>A c.5303T>A (p.Phe1768Tyr) c.5345T>A (p.Phe1782Tyr) c.5324T>A (p.Phe1775Tyr) c.5318T>A (p.Phe1773Tyr) c.5297T>A (p.Phe1766Tyr) c.4208T>A (p.Phe1403Tyr) c.5306T>A (p.Phe1769Tyr) n.1188T>A | |
11 | g.70473087A>C | CA381675398 | SHANK2 | c.3565T>G (p.Phe1189Val) c.1110T>G (n.1110T>G) c.5332T>G (p.Phe1778Val) c.2841T>G c.4195T>G (p.Phe1399Val) c.3622T>G (p.Phe1208Val) c.3568T>G (p.Phe1190Val) c.*336T>G (n.*336T>G) c.3544T>G (p.Phe1182Val) c.1108T>G c.3169T>G (p.Phe1057Val) n.2084T>G n.1186T>G c.5302T>G (p.Phe1768Val) c.5344T>G (p.Phe1782Val) c.5323T>G (p.Phe1775Val) c.5317T>G (p.Phe1773Val) c.5296T>G (p.Phe1766Val) c.4207T>G (p.Phe1403Val) c.5305T>G (p.Phe1769Val) n.1187T>G | |
11 | g.70473087A>G | CA381675401 | SHANK2 | c.3565T>C (p.Phe1189Leu) c.1110T>C (n.1110T>C) c.5332T>C (p.Phe1778Leu) c.2841T>C c.4195T>C (p.Phe1399Leu) c.3622T>C (p.Phe1208Leu) c.3568T>C (p.Phe1190Leu) c.*336T>C (n.*336T>C) c.3544T>C (p.Phe1182Leu) c.1108T>C c.3169T>C (p.Phe1057Leu) n.2084T>C n.1186T>C c.5302T>C (p.Phe1768Leu) c.5344T>C (p.Phe1782Leu) c.5323T>C (p.Phe1775Leu) c.5317T>C (p.Phe1773Leu) c.5296T>C (p.Phe1766Leu) c.4207T>C (p.Phe1403Leu) c.5305T>C (p.Phe1769Leu) n.1187T>C | |
11 | g.70473087A>T | CA381675405 | SHANK2 | c.3565T>A (p.Phe1189Ile) c.1110T>A (n.1110T>A) c.5332T>A (p.Phe1778Ile) c.2841T>A c.4195T>A (p.Phe1399Ile) c.3622T>A (p.Phe1208Ile) c.3568T>A (p.Phe1190Ile) c.*336T>A (n.*336T>A) c.3544T>A (p.Phe1182Ile) c.1108T>A c.3169T>A (p.Phe1057Ile) n.2084T>A n.1186T>A c.5302T>A (p.Phe1768Ile) c.5344T>A (p.Phe1782Ile) c.5323T>A (p.Phe1775Ile) c.5317T>A (p.Phe1773Ile) c.5296T>A (p.Phe1766Ile) c.4207T>A (p.Phe1403Ile) c.5305T>A (p.Phe1769Ile) n.1187T>A | |
11 | g.70473088A>C | CA475471052 | SHANK2 | c.3564T>G (p.Pro1188=) c.1109T>G (n.1109T>G) c.5331T>G (p.Pro1777=) c.2840T>G c.4194T>G (p.Pro1398=) c.3621T>G (p.Pro1207=) c.3567T>G (p.Pro1189=) c.*335T>G (n.*335T>G) c.3543T>G (p.Pro1181=) c.1107T>G c.3168T>G (p.Pro1056=) n.2083T>G n.1185T>G c.5301T>G (p.Pro1767=) c.5343T>G (p.Pro1781=) c.5322T>G (p.Pro1774=) c.5316T>G (p.Pro1772=) c.5295T>G (p.Pro1765=) c.4206T>G (p.Pro1402=) c.5304T>G (p.Pro1768=) n.1186T>G | |
11 | g.70473088A>G | CA475471055 | SHANK2 | c.3564T>C (p.Pro1188=) c.1109T>C (n.1109T>C) c.5331T>C (p.Pro1777=) c.2840T>C c.4194T>C (p.Pro1398=) c.3621T>C (p.Pro1207=) c.3567T>C (p.Pro1189=) c.*335T>C (n.*335T>C) c.3543T>C (p.Pro1181=) c.1107T>C c.3168T>C (p.Pro1056=) n.2083T>C n.1185T>C c.5301T>C (p.Pro1767=) c.5343T>C (p.Pro1781=) c.5322T>C (p.Pro1774=) c.5316T>C (p.Pro1772=) c.5295T>C (p.Pro1765=) c.4206T>C (p.Pro1402=) c.5304T>C (p.Pro1768=) n.1186T>C | |
11 | g.70473088A>T | CA475471053 | SHANK2 | c.3564T>A (p.Pro1188=) c.1109T>A (n.1109T>A) c.5331T>A (p.Pro1777=) c.2840T>A c.4194T>A (p.Pro1398=) c.3621T>A (p.Pro1207=) c.3567T>A (p.Pro1189=) c.*335T>A (n.*335T>A) c.3543T>A (p.Pro1181=) c.1107T>A c.3168T>A (p.Pro1056=) n.2083T>A n.1185T>A c.5301T>A (p.Pro1767=) c.5343T>A (p.Pro1781=) c.5322T>A (p.Pro1774=) c.5316T>A (p.Pro1772=) c.5295T>A (p.Pro1765=) c.4206T>A (p.Pro1402=) c.5304T>A (p.Pro1768=) n.1186T>A | |
11 | g.70473089G>A | CA381675409 | SHANK2 | c.3563C>T (p.Pro1188Leu) c.1108C>T (n.1108C>T) c.5330C>T (p.Pro1777Leu) c.2839C>T c.4193C>T (p.Pro1398Leu) c.3620C>T (p.Pro1207Leu) c.3566C>T (p.Pro1189Leu) c.*334C>T (n.*334C>T) c.3542C>T (p.Pro1181Leu) c.1106C>T c.3167C>T (p.Pro1056Leu) n.2082C>T n.1184C>T c.5300C>T (p.Pro1767Leu) c.5342C>T (p.Pro1781Leu) c.5321C>T (p.Pro1774Leu) c.5315C>T (p.Pro1772Leu) c.5294C>T (p.Pro1765Leu) c.4205C>T (p.Pro1402Leu) c.5303C>T (p.Pro1768Leu) n.1185C>T | |
11 | g.70473089G>C | CA381675413 | SHANK2 | c.3563C>G (p.Pro1188Arg) c.1108C>G (n.1108C>G) c.5330C>G (p.Pro1777Arg) c.2839C>G c.4193C>G (p.Pro1398Arg) c.3620C>G (p.Pro1207Arg) c.3566C>G (p.Pro1189Arg) c.*334C>G (n.*334C>G) c.3542C>G (p.Pro1181Arg) c.1106C>G c.3167C>G (p.Pro1056Arg) n.2082C>G n.1184C>G c.5300C>G (p.Pro1767Arg) c.5342C>G (p.Pro1781Arg) c.5321C>G (p.Pro1774Arg) c.5315C>G (p.Pro1772Arg) c.5294C>G (p.Pro1765Arg) c.4205C>G (p.Pro1402Arg) c.5303C>G (p.Pro1768Arg) n.1185C>G | |
11 | g.70473089G>T | CA381675417 | SHANK2 | c.3563C>A (p.Pro1188His) c.1108C>A (n.1108C>A) c.5330C>A (p.Pro1777His) c.2839C>A c.4193C>A (p.Pro1398His) c.3620C>A (p.Pro1207His) c.3566C>A (p.Pro1189His) c.*334C>A (n.*334C>A) c.3542C>A (p.Pro1181His) c.1106C>A c.3167C>A (p.Pro1056His) n.2082C>A n.1184C>A c.5300C>A (p.Pro1767His) c.5342C>A (p.Pro1781His) c.5321C>A (p.Pro1774His) c.5315C>A (p.Pro1772His) c.5294C>A (p.Pro1765His) c.4205C>A (p.Pro1402His) c.5303C>A (p.Pro1768His) n.1185C>A | |
11 | g.70473090G>A | CA381675420 | SHANK2 | c.3562C>T (p.Pro1188Ser) c.1107C>T (n.1107C>T) c.5329C>T (p.Pro1777Ser) c.2838C>T c.4192C>T (p.Pro1398Ser) c.3619C>T (p.Pro1207Ser) c.3565C>T (p.Pro1189Ser) c.*333C>T (n.*333C>T) c.3541C>T (p.Pro1181Ser) c.1105C>T c.3166C>T (p.Pro1056Ser) n.2081C>T n.1183C>T c.5299C>T (p.Pro1767Ser) c.5341C>T (p.Pro1781Ser) c.5320C>T (p.Pro1774Ser) c.5314C>T (p.Pro1772Ser) c.5293C>T (p.Pro1765Ser) c.4204C>T (p.Pro1402Ser) c.5302C>T (p.Pro1768Ser) n.1184C>T | |
11 | g.70473090G>C | CA6160716 | SHANK2 | c.3562C>G (p.Pro1188Ala) c.1107C>G (n.1107C>G) c.5329C>G (p.Pro1777Ala) c.2838C>G c.4192C>G (p.Pro1398Ala) c.3619C>G (p.Pro1207Ala) c.3565C>G (p.Pro1189Ala) c.*333C>G (n.*333C>G) c.3541C>G (p.Pro1181Ala) c.1105C>G c.3166C>G (p.Pro1056Ala) n.2081C>G n.1183C>G c.5299C>G (p.Pro1767Ala) c.5341C>G (p.Pro1781Ala) c.5320C>G (p.Pro1774Ala) c.5314C>G (p.Pro1772Ala) c.5293C>G (p.Pro1765Ala) c.4204C>G (p.Pro1402Ala) c.5302C>G (p.Pro1768Ala) n.1184C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473090G= | CA1981067904 | SHANK2 | c.3562C= (p.Pro1188=) c.1107C= (n.1107C=) c.5329C= (p.Pro1777=) c.2838C= c.4192C= (p.Pro1398=) c.3619C= (p.Pro1207=) c.3565C= (p.Pro1189=) c.*333C= (n.*333C=) c.3541C= (p.Pro1181=) c.1105C= c.3166C= (p.Pro1056=) n.2081C= n.1183C= c.5299C= (p.Pro1767=) c.5341C= (p.Pro1781=) c.5320C= (p.Pro1774=) c.5314C= (p.Pro1772=) c.5293C= (p.Pro1765=) c.4204C= (p.Pro1402=) c.5302C= (p.Pro1768=) n.1184C= | |
11 | g.70473090G>T | CA381675424 | SHANK2 | c.3562C>A (p.Pro1188Thr) c.1107C>A (n.1107C>A) c.5329C>A (p.Pro1777Thr) c.2838C>A c.4192C>A (p.Pro1398Thr) c.3619C>A (p.Pro1207Thr) c.3565C>A (p.Pro1189Thr) c.*333C>A (n.*333C>A) c.3541C>A (p.Pro1181Thr) c.1105C>A c.3166C>A (p.Pro1056Thr) n.2081C>A n.1183C>A c.5299C>A (p.Pro1767Thr) c.5341C>A (p.Pro1781Thr) c.5320C>A (p.Pro1774Thr) c.5314C>A (p.Pro1772Thr) c.5293C>A (p.Pro1765Thr) c.4204C>A (p.Pro1402Thr) c.5302C>A (p.Pro1768Thr) n.1184C>A | |
11 | g.70473091C>A | CA381675429 | SHANK2 | c.3561G>T (p.Lys1187Asn) c.1106G>T (n.1106G>T) c.5328G>T (p.Lys1776Asn) c.2837G>T c.4191G>T (p.Lys1397Asn) c.3618G>T (p.Lys1206Asn) c.3564G>T (p.Lys1188Asn) c.*332G>T (n.*332G>T) c.3540G>T (p.Lys1180Asn) c.1104G>T c.3165G>T (p.Lys1055Asn) n.2080G>T n.1182G>T c.5298G>T (p.Lys1766Asn) c.5340G>T (p.Lys1780Asn) c.5319G>T (p.Lys1773Asn) c.5313G>T (p.Lys1771Asn) c.5292G>T (p.Lys1764Asn) c.4203G>T (p.Lys1401Asn) c.5301G>T (p.Lys1767Asn) n.1183G>T | |
11 | g.70473091C= | CA1981067905 | SHANK2 | c.3561G= (p.Lys1187=) c.1106G= (n.1106G=) c.5328G= (p.Lys1776=) c.2837G= c.4191G= (p.Lys1397=) c.3618G= (p.Lys1206=) c.3564G= (p.Lys1188=) c.*332G= (n.*332G=) c.3540G= (p.Lys1180=) c.1104G= c.3165G= (p.Lys1055=) n.2080G= n.1182G= c.5298G= (p.Lys1766=) c.5340G= (p.Lys1780=) c.5319G= (p.Lys1773=) c.5313G= (p.Lys1771=) c.5292G= (p.Lys1764=) c.4203G= (p.Lys1401=) c.5301G= (p.Lys1767=) n.1183G= | |
11 | g.70473091C>G | CA381675431 | SHANK2 | c.3561G>C (p.Lys1187Asn) c.1106G>C (n.1106G>C) c.5328G>C (p.Lys1776Asn) c.2837G>C c.4191G>C (p.Lys1397Asn) c.3618G>C (p.Lys1206Asn) c.3564G>C (p.Lys1188Asn) c.*332G>C (n.*332G>C) c.3540G>C (p.Lys1180Asn) c.1104G>C c.3165G>C (p.Lys1055Asn) n.2080G>C n.1182G>C c.5298G>C (p.Lys1766Asn) c.5340G>C (p.Lys1780Asn) c.5319G>C (p.Lys1773Asn) c.5313G>C (p.Lys1771Asn) c.5292G>C (p.Lys1764Asn) c.4203G>C (p.Lys1401Asn) c.5301G>C (p.Lys1767Asn) n.1183G>C | dbSNP |
11 | g.70473091C>T | CA475471060 | SHANK2 | c.3561G>A (p.Lys1187=) c.1106G>A (n.1106G>A) c.5328G>A (p.Lys1776=) c.2837G>A c.4191G>A (p.Lys1397=) c.3618G>A (p.Lys1206=) c.3564G>A (p.Lys1188=) c.*332G>A (n.*332G>A) c.3540G>A (p.Lys1180=) c.1104G>A c.3165G>A (p.Lys1055=) n.2080G>A n.1182G>A c.5298G>A (p.Lys1766=) c.5340G>A (p.Lys1780=) c.5319G>A (p.Lys1773=) c.5313G>A (p.Lys1771=) c.5292G>A (p.Lys1764=) c.4203G>A (p.Lys1401=) c.5301G>A (p.Lys1767=) n.1183G>A | |
11 | g.70473092T>A | CA381675445 | SHANK2 | c.3560A>T (p.Lys1187Met) c.1105A>T (n.1105A>T) c.5327A>T (p.Lys1776Met) c.2836A>T c.4190A>T (p.Lys1397Met) c.3617A>T (p.Lys1206Met) c.3563A>T (p.Lys1188Met) c.*331A>T (n.*331A>T) c.3539A>T (p.Lys1180Met) c.1103A>T c.3164A>T (p.Lys1055Met) n.2079A>T n.1181A>T c.5297A>T (p.Lys1766Met) c.5339A>T (p.Lys1780Met) c.5318A>T (p.Lys1773Met) c.5312A>T (p.Lys1771Met) c.5291A>T (p.Lys1764Met) c.4202A>T (p.Lys1401Met) c.5300A>T (p.Lys1767Met) n.1182A>T | |
11 | g.70473092T>C | CA381675443 | SHANK2 | c.3560A>G (p.Lys1187Arg) c.1105A>G (n.1105A>G) c.5327A>G (p.Lys1776Arg) c.2836A>G c.4190A>G (p.Lys1397Arg) c.3617A>G (p.Lys1206Arg) c.3563A>G (p.Lys1188Arg) c.*331A>G (n.*331A>G) c.3539A>G (p.Lys1180Arg) c.1103A>G c.3164A>G (p.Lys1055Arg) n.2079A>G n.1181A>G c.5297A>G (p.Lys1766Arg) c.5339A>G (p.Lys1780Arg) c.5318A>G (p.Lys1773Arg) c.5312A>G (p.Lys1771Arg) c.5291A>G (p.Lys1764Arg) c.4202A>G (p.Lys1401Arg) c.5300A>G (p.Lys1767Arg) n.1182A>G | |
11 | g.70473092T>G | CA381675436 | SHANK2 | c.3560A>C (p.Lys1187Thr) c.1105A>C (n.1105A>C) c.5327A>C (p.Lys1776Thr) c.2836A>C c.4190A>C (p.Lys1397Thr) c.3617A>C (p.Lys1206Thr) c.3563A>C (p.Lys1188Thr) c.*331A>C (n.*331A>C) c.3539A>C (p.Lys1180Thr) c.1103A>C c.3164A>C (p.Lys1055Thr) n.2079A>C n.1181A>C c.5297A>C (p.Lys1766Thr) c.5339A>C (p.Lys1780Thr) c.5318A>C (p.Lys1773Thr) c.5312A>C (p.Lys1771Thr) c.5291A>C (p.Lys1764Thr) c.4202A>C (p.Lys1401Thr) c.5300A>C (p.Lys1767Thr) n.1182A>C | |
11 | g.70473093T>A | CA381675451 | SHANK2 | c.3559A>T (p.Lys1187Ter) c.1104A>T (n.1104A>T) c.5326A>T (p.Lys1776Ter) c.2835A>T c.4189A>T (p.Lys1397Ter) c.3616A>T (p.Lys1206Ter) c.3562A>T (p.Lys1188Ter) c.*330A>T (n.*330A>T) c.3538A>T (p.Lys1180Ter) c.1102A>T c.3163A>T (p.Lys1055Ter) n.2078A>T n.1180A>T c.5296A>T (p.Lys1766Ter) c.5338A>T (p.Lys1780Ter) c.5317A>T (p.Lys1773Ter) c.5311A>T (p.Lys1771Ter) c.5290A>T (p.Lys1764Ter) c.4201A>T (p.Lys1401Ter) c.5299A>T (p.Lys1767Ter) n.1181A>T | |
11 | g.70473093T>C | CA381675458 | SHANK2 | c.3559A>G (p.Lys1187Glu) c.1104A>G (n.1104A>G) c.5326A>G (p.Lys1776Glu) c.2835A>G c.4189A>G (p.Lys1397Glu) c.3616A>G (p.Lys1206Glu) c.3562A>G (p.Lys1188Glu) c.*330A>G (n.*330A>G) c.3538A>G (p.Lys1180Glu) c.1102A>G c.3163A>G (p.Lys1055Glu) n.2078A>G n.1180A>G c.5296A>G (p.Lys1766Glu) c.5338A>G (p.Lys1780Glu) c.5317A>G (p.Lys1773Glu) c.5311A>G (p.Lys1771Glu) c.5290A>G (p.Lys1764Glu) c.4201A>G (p.Lys1401Glu) c.5299A>G (p.Lys1767Glu) n.1181A>G | |
11 | g.70473093T>G | CA381675461 | SHANK2 | c.3559A>C (p.Lys1187Gln) c.1104A>C (n.1104A>C) c.5326A>C (p.Lys1776Gln) c.2835A>C c.4189A>C (p.Lys1397Gln) c.3616A>C (p.Lys1206Gln) c.3562A>C (p.Lys1188Gln) c.*330A>C (n.*330A>C) c.3538A>C (p.Lys1180Gln) c.1102A>C c.3163A>C (p.Lys1055Gln) n.2078A>C n.1180A>C c.5296A>C (p.Lys1766Gln) c.5338A>C (p.Lys1780Gln) c.5317A>C (p.Lys1773Gln) c.5311A>C (p.Lys1771Gln) c.5290A>C (p.Lys1764Gln) c.4201A>C (p.Lys1401Gln) c.5299A>C (p.Lys1767Gln) n.1181A>C | dbSNP |
11 | g.70473093T= | CA1981067906 | SHANK2 | c.3559A= (p.Lys1187=) c.1104A= (n.1104A=) c.5326A= (p.Lys1776=) c.2835A= c.4189A= (p.Lys1397=) c.3616A= (p.Lys1206=) c.3562A= (p.Lys1188=) c.*330A= (n.*330A=) c.3538A= (p.Lys1180=) c.1102A= c.3163A= (p.Lys1055=) n.2078A= n.1180A= c.5296A= (p.Lys1766=) c.5338A= (p.Lys1780=) c.5317A= (p.Lys1773=) c.5311A= (p.Lys1771=) c.5290A= (p.Lys1764=) c.4201A= (p.Lys1401=) c.5299A= (p.Lys1767=) n.1181A= | |
11 | g.70473094A= | CA1981067907 | SHANK2 | c.3558T= (p.Asn1186=) c.1103T= (n.1103T=) c.5325T= (p.Asn1775=) c.2834T= c.4188T= (p.Asn1396=) c.3615T= (p.Asn1205=) c.3561T= (p.Asn1187=) c.*329T= (n.*329T=) c.3537T= (p.Asn1179=) c.1101T= c.3162T= (p.Asn1054=) n.2077T= n.1179T= c.5295T= (p.Asn1765=) c.5337T= (p.Asn1779=) c.5316T= (p.Asn1772=) c.5310T= (p.Asn1770=) c.5289T= (p.Asn1763=) c.4200T= (p.Asn1400=) c.5298T= (p.Asn1766=) n.1180T= | |
11 | g.70473094A>C | CA381675465 | SHANK2 | c.3558T>G (p.Asn1186Lys) c.1103T>G (n.1103T>G) c.5325T>G (p.Asn1775Lys) c.2834T>G c.4188T>G (p.Asn1396Lys) c.3615T>G (p.Asn1205Lys) c.3561T>G (p.Asn1187Lys) c.*329T>G (n.*329T>G) c.3537T>G (p.Asn1179Lys) c.1101T>G c.3162T>G (p.Asn1054Lys) n.2077T>G n.1179T>G c.5295T>G (p.Asn1765Lys) c.5337T>G (p.Asn1779Lys) c.5316T>G (p.Asn1772Lys) c.5310T>G (p.Asn1770Lys) c.5289T>G (p.Asn1763Lys) c.4200T>G (p.Asn1400Lys) c.5298T>G (p.Asn1766Lys) n.1180T>G | |
11 | g.70473094A>G | CA475471065 | SHANK2 | c.3558T>C (p.Asn1186=) c.1103T>C (n.1103T>C) c.5325T>C (p.Asn1775=) c.2834T>C c.4188T>C (p.Asn1396=) c.3615T>C (p.Asn1205=) c.3561T>C (p.Asn1187=) c.*329T>C (n.*329T>C) c.3537T>C (p.Asn1179=) c.1101T>C c.3162T>C (p.Asn1054=) n.2077T>C n.1179T>C c.5295T>C (p.Asn1765=) c.5337T>C (p.Asn1779=) c.5316T>C (p.Asn1772=) c.5310T>C (p.Asn1770=) c.5289T>C (p.Asn1763=) c.4200T>C (p.Asn1400=) c.5298T>C (p.Asn1766=) n.1180T>C | dbSNP gnomAD v4 |
11 | g.70473094A>T | CA381675466 | SHANK2 | c.3558T>A (p.Asn1186Lys) c.1103T>A (n.1103T>A) c.5325T>A (p.Asn1775Lys) c.2834T>A c.4188T>A (p.Asn1396Lys) c.3615T>A (p.Asn1205Lys) c.3561T>A (p.Asn1187Lys) c.*329T>A (n.*329T>A) c.3537T>A (p.Asn1179Lys) c.1101T>A c.3162T>A (p.Asn1054Lys) n.2077T>A n.1179T>A c.5295T>A (p.Asn1765Lys) c.5337T>A (p.Asn1779Lys) c.5316T>A (p.Asn1772Lys) c.5310T>A (p.Asn1770Lys) c.5289T>A (p.Asn1763Lys) c.4200T>A (p.Asn1400Lys) c.5298T>A (p.Asn1766Lys) n.1180T>A | |
11 | g.70473095T>A | CA381675467 | SHANK2 | c.3557A>T (p.Asn1186Ile) c.1102A>T (n.1102A>T) c.5324A>T (p.Asn1775Ile) c.2833A>T c.4187A>T (p.Asn1396Ile) c.3614A>T (p.Asn1205Ile) c.3560A>T (p.Asn1187Ile) c.*328A>T (n.*328A>T) c.3536A>T (p.Asn1179Ile) c.1100A>T c.3161A>T (p.Asn1054Ile) n.2076A>T n.1178A>T c.5294A>T (p.Asn1765Ile) c.5336A>T (p.Asn1779Ile) c.5315A>T (p.Asn1772Ile) c.5309A>T (p.Asn1770Ile) c.5288A>T (p.Asn1763Ile) c.4199A>T (p.Asn1400Ile) c.5297A>T (p.Asn1766Ile) n.1179A>T | |
11 | g.70473095T>C | CA381675468 | SHANK2 | c.3557A>G (p.Asn1186Ser) c.1102A>G (n.1102A>G) c.5324A>G (p.Asn1775Ser) c.2833A>G c.4187A>G (p.Asn1396Ser) c.3614A>G (p.Asn1205Ser) c.3560A>G (p.Asn1187Ser) c.*328A>G (n.*328A>G) c.3536A>G (p.Asn1179Ser) c.1100A>G c.3161A>G (p.Asn1054Ser) n.2076A>G n.1178A>G c.5294A>G (p.Asn1765Ser) c.5336A>G (p.Asn1779Ser) c.5315A>G (p.Asn1772Ser) c.5309A>G (p.Asn1770Ser) c.5288A>G (p.Asn1763Ser) c.4199A>G (p.Asn1400Ser) c.5297A>G (p.Asn1766Ser) n.1179A>G | |
11 | g.70473095T>G | CA381675469 | SHANK2 | c.3557A>C (p.Asn1186Thr) c.1102A>C (n.1102A>C) c.5324A>C (p.Asn1775Thr) c.2833A>C c.4187A>C (p.Asn1396Thr) c.3614A>C (p.Asn1205Thr) c.3560A>C (p.Asn1187Thr) c.*328A>C (n.*328A>C) c.3536A>C (p.Asn1179Thr) c.1100A>C c.3161A>C (p.Asn1054Thr) n.2076A>C n.1178A>C c.5294A>C (p.Asn1765Thr) c.5336A>C (p.Asn1779Thr) c.5315A>C (p.Asn1772Thr) c.5309A>C (p.Asn1770Thr) c.5288A>C (p.Asn1763Thr) c.4199A>C (p.Asn1400Thr) c.5297A>C (p.Asn1766Thr) n.1179A>C | |
11 | g.70473096T>A | CA381675472 | SHANK2 | c.3556A>T (p.Asn1186Tyr) c.1101A>T (n.1101A>T) c.5323A>T (p.Asn1775Tyr) c.2832A>T c.4186A>T (p.Asn1396Tyr) c.3613A>T (p.Asn1205Tyr) c.3559A>T (p.Asn1187Tyr) c.*327A>T (n.*327A>T) c.3535A>T (p.Asn1179Tyr) c.1099A>T c.3160A>T (p.Asn1054Tyr) n.2075A>T n.1177A>T c.5293A>T (p.Asn1765Tyr) c.5335A>T (p.Asn1779Tyr) c.5314A>T (p.Asn1772Tyr) c.5308A>T (p.Asn1770Tyr) c.5287A>T (p.Asn1763Tyr) c.4198A>T (p.Asn1400Tyr) c.5296A>T (p.Asn1766Tyr) n.1178A>T | |
11 | g.70473096T>C | CA6160717 | SHANK2 | c.3556A>G (p.Asn1186Asp) c.1101A>G (n.1101A>G) c.5323A>G (p.Asn1775Asp) c.2832A>G c.4186A>G (p.Asn1396Asp) c.3613A>G (p.Asn1205Asp) c.3559A>G (p.Asn1187Asp) c.*327A>G (n.*327A>G) c.3535A>G (p.Asn1179Asp) c.1099A>G c.3160A>G (p.Asn1054Asp) n.2075A>G n.1177A>G c.5293A>G (p.Asn1765Asp) c.5335A>G (p.Asn1779Asp) c.5314A>G (p.Asn1772Asp) c.5308A>G (p.Asn1770Asp) c.5287A>G (p.Asn1763Asp) c.4198A>G (p.Asn1400Asp) c.5296A>G (p.Asn1766Asp) n.1178A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473096T>G | CA381675478 | SHANK2 | c.3556A>C (p.Asn1186His) c.1101A>C (n.1101A>C) c.5323A>C (p.Asn1775His) c.2832A>C c.4186A>C (p.Asn1396His) c.3613A>C (p.Asn1205His) c.3559A>C (p.Asn1187His) c.*327A>C (n.*327A>C) c.3535A>C (p.Asn1179His) c.1099A>C c.3160A>C (p.Asn1054His) n.2075A>C n.1177A>C c.5293A>C (p.Asn1765His) c.5335A>C (p.Asn1779His) c.5314A>C (p.Asn1772His) c.5308A>C (p.Asn1770His) c.5287A>C (p.Asn1763His) c.4198A>C (p.Asn1400His) c.5296A>C (p.Asn1766His) n.1178A>C | |
11 | g.70473096T= | CA1981067908 | SHANK2 | c.3556A= (p.Asn1186=) c.1101A= (n.1101A=) c.5323A= (p.Asn1775=) c.2832A= c.4186A= (p.Asn1396=) c.3613A= (p.Asn1205=) c.3559A= (p.Asn1187=) c.*327A= (n.*327A=) c.3535A= (p.Asn1179=) c.1099A= c.3160A= (p.Asn1054=) n.2075A= n.1177A= c.5293A= (p.Asn1765=) c.5335A= (p.Asn1779=) c.5314A= (p.Asn1772=) c.5308A= (p.Asn1770=) c.5287A= (p.Asn1763=) c.4198A= (p.Asn1400=) c.5296A= (p.Asn1766=) n.1178A= | |
11 | g.70473097T>A | CA475471066 | SHANK2 | c.3555A>T (p.Ser1185=) c.1100A>T (n.1100A>T) c.5322A>T (p.Ser1774=) c.2831A>T c.4185A>T (p.Ser1395=) c.3612A>T (p.Ser1204=) c.3558A>T (p.Ser1186=) c.*326A>T (n.*326A>T) c.3534A>T (p.Ser1178=) c.1098A>T c.3159A>T (p.Ser1053=) n.2074A>T n.1176A>T c.5292A>T (p.Ser1764=) c.5334A>T (p.Ser1778=) c.5313A>T (p.Ser1771=) c.5307A>T (p.Ser1769=) c.5286A>T (p.Ser1762=) c.4197A>T (p.Ser1399=) c.5295A>T (p.Ser1765=) n.1177A>T | |
11 | g.70473097T>C | CA475471067 | SHANK2 | c.3555A>G (p.Ser1185=) c.1100A>G (n.1100A>G) c.5322A>G (p.Ser1774=) c.2831A>G c.4185A>G (p.Ser1395=) c.3612A>G (p.Ser1204=) c.3558A>G (p.Ser1186=) c.*326A>G (n.*326A>G) c.3534A>G (p.Ser1178=) c.1098A>G c.3159A>G (p.Ser1053=) n.2074A>G n.1176A>G c.5292A>G (p.Ser1764=) c.5334A>G (p.Ser1778=) c.5313A>G (p.Ser1771=) c.5307A>G (p.Ser1769=) c.5286A>G (p.Ser1762=) c.4197A>G (p.Ser1399=) c.5295A>G (p.Ser1765=) n.1177A>G | |
11 | g.70473097T>G | CA475471068 | SHANK2 | c.3555A>C (p.Ser1185=) c.1100A>C (n.1100A>C) c.5322A>C (p.Ser1774=) c.2831A>C c.4185A>C (p.Ser1395=) c.3612A>C (p.Ser1204=) c.3558A>C (p.Ser1186=) c.*326A>C (n.*326A>C) c.3534A>C (p.Ser1178=) c.1098A>C c.3159A>C (p.Ser1053=) n.2074A>C n.1176A>C c.5292A>C (p.Ser1764=) c.5334A>C (p.Ser1778=) c.5313A>C (p.Ser1771=) c.5307A>C (p.Ser1769=) c.5286A>C (p.Ser1762=) c.4197A>C (p.Ser1399=) c.5295A>C (p.Ser1765=) n.1177A>C | gnomAD v4 |
11 | g.70473098G>A | CA381675487 | SHANK2 | c.3554C>T (p.Ser1185Leu) c.1099C>T (n.1099C>T) c.5321C>T (p.Ser1774Leu) c.2830C>T c.4184C>T (p.Ser1395Leu) c.3611C>T (p.Ser1204Leu) c.3557C>T (p.Ser1186Leu) c.*325C>T (n.*325C>T) c.3533C>T (p.Ser1178Leu) c.1097C>T c.3158C>T (p.Ser1053Leu) n.2073C>T n.1175C>T c.5291C>T (p.Ser1764Leu) c.5333C>T (p.Ser1778Leu) c.5312C>T (p.Ser1771Leu) c.5306C>T (p.Ser1769Leu) c.5285C>T (p.Ser1762Leu) c.4196C>T (p.Ser1399Leu) c.5294C>T (p.Ser1765Leu) n.1176C>T | COSMIC COSMIC COSMIC |
11 | g.70473098G>C | CA381675484 | SHANK2 | c.3554C>G (p.Ser1185Ter) c.1099C>G (n.1099C>G) c.5321C>G (p.Ser1774Ter) c.2830C>G c.4184C>G (p.Ser1395Ter) c.3611C>G (p.Ser1204Ter) c.3557C>G (p.Ser1186Ter) c.*325C>G (n.*325C>G) c.3533C>G (p.Ser1178Ter) c.1097C>G c.3158C>G (p.Ser1053Ter) n.2073C>G n.1175C>G c.5291C>G (p.Ser1764Ter) c.5333C>G (p.Ser1778Ter) c.5312C>G (p.Ser1771Ter) c.5306C>G (p.Ser1769Ter) c.5285C>G (p.Ser1762Ter) c.4196C>G (p.Ser1399Ter) c.5294C>G (p.Ser1765Ter) n.1176C>G | |
11 | g.70473098G>T | CA381675481 | SHANK2 | c.3554C>A (p.Ser1185Ter) c.1099C>A (n.1099C>A) c.5321C>A (p.Ser1774Ter) c.2830C>A c.4184C>A (p.Ser1395Ter) c.3611C>A (p.Ser1204Ter) c.3557C>A (p.Ser1186Ter) c.*325C>A (n.*325C>A) c.3533C>A (p.Ser1178Ter) c.1097C>A c.3158C>A (p.Ser1053Ter) n.2073C>A n.1175C>A c.5291C>A (p.Ser1764Ter) c.5333C>A (p.Ser1778Ter) c.5312C>A (p.Ser1771Ter) c.5306C>A (p.Ser1769Ter) c.5285C>A (p.Ser1762Ter) c.4196C>A (p.Ser1399Ter) c.5294C>A (p.Ser1765Ter) n.1176C>A | |
11 | g.70473099A>C | CA381675489 | SHANK2 | c.3553T>G (p.Ser1185Ala) c.1098T>G (n.1098T>G) c.5320T>G (p.Ser1774Ala) c.2829T>G c.4183T>G (p.Ser1395Ala) c.3610T>G (p.Ser1204Ala) c.3556T>G (p.Ser1186Ala) c.*324T>G (n.*324T>G) c.3532T>G (p.Ser1178Ala) c.1096T>G c.3157T>G (p.Ser1053Ala) n.2072T>G n.1174T>G c.5290T>G (p.Ser1764Ala) c.5332T>G (p.Ser1778Ala) c.5311T>G (p.Ser1771Ala) c.5305T>G (p.Ser1769Ala) c.5284T>G (p.Ser1762Ala) c.4195T>G (p.Ser1399Ala) c.5293T>G (p.Ser1765Ala) n.1175T>G | |
11 | g.70473099A>G | CA381675493 | SHANK2 | c.3553T>C (p.Ser1185Pro) c.1098T>C (n.1098T>C) c.5320T>C (p.Ser1774Pro) c.2829T>C c.4183T>C (p.Ser1395Pro) c.3610T>C (p.Ser1204Pro) c.3556T>C (p.Ser1186Pro) c.*324T>C (n.*324T>C) c.3532T>C (p.Ser1178Pro) c.1096T>C c.3157T>C (p.Ser1053Pro) n.2072T>C n.1174T>C c.5290T>C (p.Ser1764Pro) c.5332T>C (p.Ser1778Pro) c.5311T>C (p.Ser1771Pro) c.5305T>C (p.Ser1769Pro) c.5284T>C (p.Ser1762Pro) c.4195T>C (p.Ser1399Pro) c.5293T>C (p.Ser1765Pro) n.1175T>C | gnomAD v4 |
11 | g.70473099A>T | CA381675495 | SHANK2 | c.3553T>A (p.Ser1185Thr) c.1098T>A (n.1098T>A) c.5320T>A (p.Ser1774Thr) c.2829T>A c.4183T>A (p.Ser1395Thr) c.3610T>A (p.Ser1204Thr) c.3556T>A (p.Ser1186Thr) c.*324T>A (n.*324T>A) c.3532T>A (p.Ser1178Thr) c.1096T>A c.3157T>A (p.Ser1053Thr) n.2072T>A n.1174T>A c.5290T>A (p.Ser1764Thr) c.5332T>A (p.Ser1778Thr) c.5311T>A (p.Ser1771Thr) c.5305T>A (p.Ser1769Thr) c.5284T>A (p.Ser1762Thr) c.4195T>A (p.Ser1399Thr) c.5293T>A (p.Ser1765Thr) n.1175T>A | |
11 | g.70473100G>A | CA475471074 | SHANK2 | c.3552C>T (p.Ile1184=) c.1097C>T (n.1097C>T) c.5319C>T (p.Ile1773=) c.2828C>T c.4182C>T (p.Ile1394=) c.3609C>T (p.Ile1203=) c.3555C>T (p.Ile1185=) c.*323C>T (n.*323C>T) c.3531C>T (p.Ile1177=) c.1095C>T c.3156C>T (p.Ile1052=) n.2071C>T n.1173C>T c.5289C>T (p.Ile1763=) c.5331C>T (p.Ile1777=) c.5310C>T (p.Ile1770=) c.5304C>T (p.Ile1768=) c.5283C>T (p.Ile1761=) c.4194C>T (p.Ile1398=) c.5292C>T (p.Ile1764=) n.1174C>T | |
11 | g.70473100G>C | CA381675499 | SHANK2 | c.3552C>G (p.Ile1184Met) c.1097C>G (n.1097C>G) c.5319C>G (p.Ile1773Met) c.2828C>G c.4182C>G (p.Ile1394Met) c.3609C>G (p.Ile1203Met) c.3555C>G (p.Ile1185Met) c.*323C>G (n.*323C>G) c.3531C>G (p.Ile1177Met) c.1095C>G c.3156C>G (p.Ile1052Met) n.2071C>G n.1173C>G c.5289C>G (p.Ile1763Met) c.5331C>G (p.Ile1777Met) c.5310C>G (p.Ile1770Met) c.5304C>G (p.Ile1768Met) c.5283C>G (p.Ile1761Met) c.4194C>G (p.Ile1398Met) c.5292C>G (p.Ile1764Met) n.1174C>G | |
11 | g.70473100G>T | CA475471075 | SHANK2 | c.3552C>A (p.Ile1184=) c.1097C>A (n.1097C>A) c.5319C>A (p.Ile1773=) c.2828C>A c.4182C>A (p.Ile1394=) c.3609C>A (p.Ile1203=) c.3555C>A (p.Ile1185=) c.*323C>A (n.*323C>A) c.3531C>A (p.Ile1177=) c.1095C>A c.3156C>A (p.Ile1052=) n.2071C>A n.1173C>A c.5289C>A (p.Ile1763=) c.5331C>A (p.Ile1777=) c.5310C>A (p.Ile1770=) c.5304C>A (p.Ile1768=) c.5283C>A (p.Ile1761=) c.4194C>A (p.Ile1398=) c.5292C>A (p.Ile1764=) n.1174C>A | |
11 | g.70473101A>C | CA381675501 | SHANK2 | c.3551T>G (p.Ile1184Ser) c.1096T>G (n.1096T>G) c.5318T>G (p.Ile1773Ser) c.2827T>G c.4181T>G (p.Ile1394Ser) c.3608T>G (p.Ile1203Ser) c.3554T>G (p.Ile1185Ser) c.*322T>G (n.*322T>G) c.3530T>G (p.Ile1177Ser) c.1094T>G c.3155T>G (p.Ile1052Ser) n.2070T>G n.1172T>G c.5288T>G (p.Ile1763Ser) c.5330T>G (p.Ile1777Ser) c.5309T>G (p.Ile1770Ser) c.5303T>G (p.Ile1768Ser) c.5282T>G (p.Ile1761Ser) c.4193T>G (p.Ile1398Ser) c.5291T>G (p.Ile1764Ser) n.1173T>G | |
11 | g.70473101A>G | CA381675502 | SHANK2 | c.3551T>C (p.Ile1184Thr) c.1096T>C (n.1096T>C) c.5318T>C (p.Ile1773Thr) c.2827T>C c.4181T>C (p.Ile1394Thr) c.3608T>C (p.Ile1203Thr) c.3554T>C (p.Ile1185Thr) c.*322T>C (n.*322T>C) c.3530T>C (p.Ile1177Thr) c.1094T>C c.3155T>C (p.Ile1052Thr) n.2070T>C n.1172T>C c.5288T>C (p.Ile1763Thr) c.5330T>C (p.Ile1777Thr) c.5309T>C (p.Ile1770Thr) c.5303T>C (p.Ile1768Thr) c.5282T>C (p.Ile1761Thr) c.4193T>C (p.Ile1398Thr) c.5291T>C (p.Ile1764Thr) n.1173T>C | |
11 | g.70473101A>T | CA381675503 | SHANK2 | c.3551T>A (p.Ile1184Asn) c.1096T>A (n.1096T>A) c.5318T>A (p.Ile1773Asn) c.2827T>A c.4181T>A (p.Ile1394Asn) c.3608T>A (p.Ile1203Asn) c.3554T>A (p.Ile1185Asn) c.*322T>A (n.*322T>A) c.3530T>A (p.Ile1177Asn) c.1094T>A c.3155T>A (p.Ile1052Asn) n.2070T>A n.1172T>A c.5288T>A (p.Ile1763Asn) c.5330T>A (p.Ile1777Asn) c.5309T>A (p.Ile1770Asn) c.5303T>A (p.Ile1768Asn) c.5282T>A (p.Ile1761Asn) c.4193T>A (p.Ile1398Asn) c.5291T>A (p.Ile1764Asn) n.1173T>A | |
11 | g.70473102T>A | CA381675506 | SHANK2 | c.3550A>T (p.Ile1184Phe) c.1095A>T (n.1095A>T) c.5317A>T (p.Ile1773Phe) c.2826A>T c.4180A>T (p.Ile1394Phe) c.3607A>T (p.Ile1203Phe) c.3553A>T (p.Ile1185Phe) c.*321A>T (n.*321A>T) c.3529A>T (p.Ile1177Phe) c.1093A>T c.3154A>T (p.Ile1052Phe) n.2069A>T n.1171A>T c.5287A>T (p.Ile1763Phe) c.5329A>T (p.Ile1777Phe) c.5308A>T (p.Ile1770Phe) c.5302A>T (p.Ile1768Phe) c.5281A>T (p.Ile1761Phe) c.4192A>T (p.Ile1398Phe) c.5290A>T (p.Ile1764Phe) n.1172A>T | |
11 | g.70473102T>C | CA6160718 | SHANK2 | c.3550A>G (p.Ile1184Val) c.1095A>G (n.1095A>G) c.5317A>G (p.Ile1773Val) c.2826A>G c.4180A>G (p.Ile1394Val) c.3607A>G (p.Ile1203Val) c.3553A>G (p.Ile1185Val) c.*321A>G (n.*321A>G) c.3529A>G (p.Ile1177Val) c.1093A>G c.3154A>G (p.Ile1052Val) n.2069A>G n.1171A>G c.5287A>G (p.Ile1763Val) c.5329A>G (p.Ile1777Val) c.5308A>G (p.Ile1770Val) c.5302A>G (p.Ile1768Val) c.5281A>G (p.Ile1761Val) c.4192A>G (p.Ile1398Val) c.5290A>G (p.Ile1764Val) n.1172A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473102T>G | CA381675513 | SHANK2 | c.3550A>C (p.Ile1184Leu) c.1095A>C (n.1095A>C) c.5317A>C (p.Ile1773Leu) c.2826A>C c.4180A>C (p.Ile1394Leu) c.3607A>C (p.Ile1203Leu) c.3553A>C (p.Ile1185Leu) c.*321A>C (n.*321A>C) c.3529A>C (p.Ile1177Leu) c.1093A>C c.3154A>C (p.Ile1052Leu) n.2069A>C n.1171A>C c.5287A>C (p.Ile1763Leu) c.5329A>C (p.Ile1777Leu) c.5308A>C (p.Ile1770Leu) c.5302A>C (p.Ile1768Leu) c.5281A>C (p.Ile1761Leu) c.4192A>C (p.Ile1398Leu) c.5290A>C (p.Ile1764Leu) n.1172A>C | |
11 | g.70473102T= | CA1981067909 | SHANK2 | c.3550A= (p.Ile1184=) c.1095A= (n.1095A=) c.5317A= (p.Ile1773=) c.2826A= c.4180A= (p.Ile1394=) c.3607A= (p.Ile1203=) c.3553A= (p.Ile1185=) c.*321A= (n.*321A=) c.3529A= (p.Ile1177=) c.1093A= c.3154A= (p.Ile1052=) n.2069A= n.1171A= c.5287A= (p.Ile1763=) c.5329A= (p.Ile1777=) c.5308A= (p.Ile1770=) c.5302A= (p.Ile1768=) c.5281A= (p.Ile1761=) c.4192A= (p.Ile1398=) c.5290A= (p.Ile1764=) n.1172A= | |
11 | g.70473103T>A | CA475471079 | SHANK2 | c.3549A>T (p.Pro1183=) c.1094A>T (n.1094A>T) c.5316A>T (p.Pro1772=) c.2825A>T c.4179A>T (p.Pro1393=) c.3606A>T (p.Pro1202=) c.3552A>T (p.Pro1184=) c.*320A>T (n.*320A>T) c.3528A>T (p.Pro1176=) c.1092A>T c.3153A>T (p.Pro1051=) n.2068A>T n.1170A>T c.5286A>T (p.Pro1762=) c.5328A>T (p.Pro1776=) c.5307A>T (p.Pro1769=) c.5301A>T (p.Pro1767=) c.5280A>T (p.Pro1760=) c.4191A>T (p.Pro1397=) c.5289A>T (p.Pro1763=) n.1171A>T | |
11 | g.70473103T>C | CA475471080 | SHANK2 | c.3549A>G (p.Pro1183=) c.1094A>G (n.1094A>G) c.5316A>G (p.Pro1772=) c.2825A>G c.4179A>G (p.Pro1393=) c.3606A>G (p.Pro1202=) c.3552A>G (p.Pro1184=) c.*320A>G (n.*320A>G) c.3528A>G (p.Pro1176=) c.1092A>G c.3153A>G (p.Pro1051=) n.2068A>G n.1170A>G c.5286A>G (p.Pro1762=) c.5328A>G (p.Pro1776=) c.5307A>G (p.Pro1769=) c.5301A>G (p.Pro1767=) c.5280A>G (p.Pro1760=) c.4191A>G (p.Pro1397=) c.5289A>G (p.Pro1763=) n.1171A>G | gnomAD v4 |
11 | g.70473103T>G | CA475471081 | SHANK2 | c.3549A>C (p.Pro1183=) c.1094A>C (n.1094A>C) c.5316A>C (p.Pro1772=) c.2825A>C c.4179A>C (p.Pro1393=) c.3606A>C (p.Pro1202=) c.3552A>C (p.Pro1184=) c.*320A>C (n.*320A>C) c.3528A>C (p.Pro1176=) c.1092A>C c.3153A>C (p.Pro1051=) n.2068A>C n.1170A>C c.5286A>C (p.Pro1762=) c.5328A>C (p.Pro1776=) c.5307A>C (p.Pro1769=) c.5301A>C (p.Pro1767=) c.5280A>C (p.Pro1760=) c.4191A>C (p.Pro1397=) c.5289A>C (p.Pro1763=) n.1171A>C | |
11 | g.70473104G>A | CA381675518 | SHANK2 | c.3548C>T (p.Pro1183Leu) c.1093C>T (n.1093C>T) c.5315C>T (p.Pro1772Leu) c.2824C>T c.4178C>T (p.Pro1393Leu) c.3605C>T (p.Pro1202Leu) c.3551C>T (p.Pro1184Leu) c.*319C>T (n.*319C>T) c.3527C>T (p.Pro1176Leu) c.1091C>T c.3152C>T (p.Pro1051Leu) n.2067C>T n.1169C>T c.5285C>T (p.Pro1762Leu) c.5327C>T (p.Pro1776Leu) c.5306C>T (p.Pro1769Leu) c.5300C>T (p.Pro1767Leu) c.5279C>T (p.Pro1760Leu) c.4190C>T (p.Pro1397Leu) c.5288C>T (p.Pro1763Leu) n.1170C>T | |
11 | g.70473104G>C | CA223591746 | SHANK2 | c.3548C>G (p.Pro1183Arg) c.1093C>G (n.1093C>G) c.5315C>G (p.Pro1772Arg) c.2824C>G c.4178C>G (p.Pro1393Arg) c.3605C>G (p.Pro1202Arg) c.3551C>G (p.Pro1184Arg) c.*319C>G (n.*319C>G) c.3527C>G (p.Pro1176Arg) c.1091C>G c.3152C>G (p.Pro1051Arg) n.2067C>G n.1169C>G c.5285C>G (p.Pro1762Arg) c.5327C>G (p.Pro1776Arg) c.5306C>G (p.Pro1769Arg) c.5300C>G (p.Pro1767Arg) c.5279C>G (p.Pro1760Arg) c.4190C>G (p.Pro1397Arg) c.5288C>G (p.Pro1763Arg) n.1170C>G | dbSNP |
11 | g.70473104G= | CA1981067910 | SHANK2 | c.3548C= (p.Pro1183=) c.1093C= (n.1093C=) c.5315C= (p.Pro1772=) c.2824C= c.4178C= (p.Pro1393=) c.3605C= (p.Pro1202=) c.3551C= (p.Pro1184=) c.*319C= (n.*319C=) c.3527C= (p.Pro1176=) c.1091C= c.3152C= (p.Pro1051=) n.2067C= n.1169C= c.5285C= (p.Pro1762=) c.5327C= (p.Pro1776=) c.5306C= (p.Pro1769=) c.5300C= (p.Pro1767=) c.5279C= (p.Pro1760=) c.4190C= (p.Pro1397=) c.5288C= (p.Pro1763=) n.1170C= | |
11 | g.70473104G>T | CA381675523 | SHANK2 | c.3548C>A (p.Pro1183Gln) c.1093C>A (n.1093C>A) c.5315C>A (p.Pro1772Gln) c.2824C>A c.4178C>A (p.Pro1393Gln) c.3605C>A (p.Pro1202Gln) c.3551C>A (p.Pro1184Gln) c.*319C>A (n.*319C>A) c.3527C>A (p.Pro1176Gln) c.1091C>A c.3152C>A (p.Pro1051Gln) n.2067C>A n.1169C>A c.5285C>A (p.Pro1762Gln) c.5327C>A (p.Pro1776Gln) c.5306C>A (p.Pro1769Gln) c.5300C>A (p.Pro1767Gln) c.5279C>A (p.Pro1760Gln) c.4190C>A (p.Pro1397Gln) c.5288C>A (p.Pro1763Gln) n.1170C>A | |
11 | g.70473105G>A | CA6160719 | SHANK2 | c.3547C>T (p.Pro1183Ser) c.1092C>T (n.1092C>T) c.5314C>T (p.Pro1772Ser) c.2823C>T c.4177C>T (p.Pro1393Ser) c.3604C>T (p.Pro1202Ser) c.3550C>T (p.Pro1184Ser) c.*318C>T (n.*318C>T) c.3526C>T (p.Pro1176Ser) c.1090C>T c.3151C>T (p.Pro1051Ser) n.2066C>T n.1168C>T c.5284C>T (p.Pro1762Ser) c.5326C>T (p.Pro1776Ser) c.5305C>T (p.Pro1769Ser) c.5299C>T (p.Pro1767Ser) c.5278C>T (p.Pro1760Ser) c.4189C>T (p.Pro1397Ser) c.5287C>T (p.Pro1763Ser) n.1169C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473105G>C | CA381675551 | SHANK2 | c.3547C>G (p.Pro1183Ala) c.1092C>G (n.1092C>G) c.5314C>G (p.Pro1772Ala) c.2823C>G c.4177C>G (p.Pro1393Ala) c.3604C>G (p.Pro1202Ala) c.3550C>G (p.Pro1184Ala) c.*318C>G (n.*318C>G) c.3526C>G (p.Pro1176Ala) c.1090C>G c.3151C>G (p.Pro1051Ala) n.2066C>G n.1168C>G c.5284C>G (p.Pro1762Ala) c.5326C>G (p.Pro1776Ala) c.5305C>G (p.Pro1769Ala) c.5299C>G (p.Pro1767Ala) c.5278C>G (p.Pro1760Ala) c.4189C>G (p.Pro1397Ala) c.5287C>G (p.Pro1763Ala) n.1169C>G | |
11 | g.70473105G= | CA1981067911 | SHANK2 | c.3547C= (p.Pro1183=) c.1092C= (n.1092C=) c.5314C= (p.Pro1772=) c.2823C= c.4177C= (p.Pro1393=) c.3604C= (p.Pro1202=) c.3550C= (p.Pro1184=) c.*318C= (n.*318C=) c.3526C= (p.Pro1176=) c.1090C= c.3151C= (p.Pro1051=) n.2066C= n.1168C= c.5284C= (p.Pro1762=) c.5326C= (p.Pro1776=) c.5305C= (p.Pro1769=) c.5299C= (p.Pro1767=) c.5278C= (p.Pro1760=) c.4189C= (p.Pro1397=) c.5287C= (p.Pro1763=) n.1169C= | |
11 | g.70473105G>T | CA381675529 | SHANK2 | c.3547C>A (p.Pro1183Thr) c.1092C>A (n.1092C>A) c.5314C>A (p.Pro1772Thr) c.2823C>A c.4177C>A (p.Pro1393Thr) c.3604C>A (p.Pro1202Thr) c.3550C>A (p.Pro1184Thr) c.*318C>A (n.*318C>A) c.3526C>A (p.Pro1176Thr) c.1090C>A c.3151C>A (p.Pro1051Thr) n.2066C>A n.1168C>A c.5284C>A (p.Pro1762Thr) c.5326C>A (p.Pro1776Thr) c.5305C>A (p.Pro1769Thr) c.5299C>A (p.Pro1767Thr) c.5278C>A (p.Pro1760Thr) c.4189C>A (p.Pro1397Thr) c.5287C>A (p.Pro1763Thr) n.1169C>A | |
11 | g.70473106C>A | CA381675555 | SHANK2 | c.3546G>T (p.Gln1182His) c.1091G>T (n.1091G>T) c.5313G>T (p.Gln1771His) c.2822G>T c.4176G>T (p.Gln1392His) c.3603G>T (p.Gln1201His) c.3549G>T (p.Gln1183His) c.*317G>T (n.*317G>T) c.3525G>T (p.Gln1175His) c.1089G>T c.3150G>T (p.Gln1050His) n.2065G>T n.1167G>T c.5283G>T (p.Gln1761His) c.5325G>T (p.Gln1775His) c.5304G>T (p.Gln1768His) c.5298G>T (p.Gln1766His) c.5277G>T (p.Gln1759His) c.4188G>T (p.Gln1396His) c.5286G>T (p.Gln1762His) n.1168G>T | |
11 | g.70473106C>G | CA381675560 | SHANK2 | c.3546G>C (p.Gln1182His) c.1091G>C (n.1091G>C) c.5313G>C (p.Gln1771His) c.2822G>C c.4176G>C (p.Gln1392His) c.3603G>C (p.Gln1201His) c.3549G>C (p.Gln1183His) c.*317G>C (n.*317G>C) c.3525G>C (p.Gln1175His) c.1089G>C c.3150G>C (p.Gln1050His) n.2065G>C n.1167G>C c.5283G>C (p.Gln1761His) c.5325G>C (p.Gln1775His) c.5304G>C (p.Gln1768His) c.5298G>C (p.Gln1766His) c.5277G>C (p.Gln1759His) c.4188G>C (p.Gln1396His) c.5286G>C (p.Gln1762His) n.1168G>C | gnomAD v4 |
11 | g.70473106C>T | CA475471085 | SHANK2 | c.3546G>A (p.Gln1182=) c.1091G>A (n.1091G>A) c.5313G>A (p.Gln1771=) c.2822G>A c.4176G>A (p.Gln1392=) c.3603G>A (p.Gln1201=) c.3549G>A (p.Gln1183=) c.*317G>A (n.*317G>A) c.3525G>A (p.Gln1175=) c.1089G>A c.3150G>A (p.Gln1050=) n.2065G>A n.1167G>A c.5283G>A (p.Gln1761=) c.5325G>A (p.Gln1775=) c.5304G>A (p.Gln1768=) c.5298G>A (p.Gln1766=) c.5277G>A (p.Gln1759=) c.4188G>A (p.Gln1396=) c.5286G>A (p.Gln1762=) n.1168G>A | |
11 | g.70473107T>A | CA381675566 | SHANK2 | c.3545A>T (p.Gln1182Leu) c.1090A>T (n.1090A>T) c.5312A>T (p.Gln1771Leu) c.2821A>T c.4175A>T (p.Gln1392Leu) c.3602A>T (p.Gln1201Leu) c.3548A>T (p.Gln1183Leu) c.*316A>T (n.*316A>T) c.3524A>T (p.Gln1175Leu) c.1088A>T c.3149A>T (p.Gln1050Leu) n.2064A>T n.1166A>T c.5282A>T (p.Gln1761Leu) c.5324A>T (p.Gln1775Leu) c.5303A>T (p.Gln1768Leu) c.5297A>T (p.Gln1766Leu) c.5276A>T (p.Gln1759Leu) c.4187A>T (p.Gln1396Leu) c.5285A>T (p.Gln1762Leu) n.1167A>T | |
11 | g.70473107T>C | CA381675570 | SHANK2 | c.3545A>G (p.Gln1182Arg) c.1090A>G (n.1090A>G) c.5312A>G (p.Gln1771Arg) c.2821A>G c.4175A>G (p.Gln1392Arg) c.3602A>G (p.Gln1201Arg) c.3548A>G (p.Gln1183Arg) c.*316A>G (n.*316A>G) c.3524A>G (p.Gln1175Arg) c.1088A>G c.3149A>G (p.Gln1050Arg) n.2064A>G n.1166A>G c.5282A>G (p.Gln1761Arg) c.5324A>G (p.Gln1775Arg) c.5303A>G (p.Gln1768Arg) c.5297A>G (p.Gln1766Arg) c.5276A>G (p.Gln1759Arg) c.4187A>G (p.Gln1396Arg) c.5285A>G (p.Gln1762Arg) n.1167A>G | |
11 | g.70473107T>G | CA381675581 | SHANK2 | c.3545A>C (p.Gln1182Pro) c.1090A>C (n.1090A>C) c.5312A>C (p.Gln1771Pro) c.2821A>C c.4175A>C (p.Gln1392Pro) c.3602A>C (p.Gln1201Pro) c.3548A>C (p.Gln1183Pro) c.*316A>C (n.*316A>C) c.3524A>C (p.Gln1175Pro) c.1088A>C c.3149A>C (p.Gln1050Pro) n.2064A>C n.1166A>C c.5282A>C (p.Gln1761Pro) c.5324A>C (p.Gln1775Pro) c.5303A>C (p.Gln1768Pro) c.5297A>C (p.Gln1766Pro) c.5276A>C (p.Gln1759Pro) c.4187A>C (p.Gln1396Pro) c.5285A>C (p.Gln1762Pro) n.1167A>C | |
11 | g.70473108G>A | CA381675582 | SHANK2 | c.3544C>T (p.Gln1182Ter) c.1089C>T (n.1089C>T) c.5311C>T (p.Gln1771Ter) c.2820C>T c.4174C>T (p.Gln1392Ter) c.3601C>T (p.Gln1201Ter) c.3547C>T (p.Gln1183Ter) c.*315C>T (n.*315C>T) c.3523C>T (p.Gln1175Ter) c.1087C>T c.3148C>T (p.Gln1050Ter) n.2063C>T n.1165C>T c.5281C>T (p.Gln1761Ter) c.5323C>T (p.Gln1775Ter) c.5302C>T (p.Gln1768Ter) c.5296C>T (p.Gln1766Ter) c.5275C>T (p.Gln1759Ter) c.4186C>T (p.Gln1396Ter) c.5284C>T (p.Gln1762Ter) n.1166C>T | |
11 | g.70473108G>C | CA381675583 | SHANK2 | c.3544C>G (p.Gln1182Glu) c.1089C>G (n.1089C>G) c.5311C>G (p.Gln1771Glu) c.2820C>G c.4174C>G (p.Gln1392Glu) c.3601C>G (p.Gln1201Glu) c.3547C>G (p.Gln1183Glu) c.*315C>G (n.*315C>G) c.3523C>G (p.Gln1175Glu) c.1087C>G c.3148C>G (p.Gln1050Glu) n.2063C>G n.1165C>G c.5281C>G (p.Gln1761Glu) c.5323C>G (p.Gln1775Glu) c.5302C>G (p.Gln1768Glu) c.5296C>G (p.Gln1766Glu) c.5275C>G (p.Gln1759Glu) c.4186C>G (p.Gln1396Glu) c.5284C>G (p.Gln1762Glu) n.1166C>G | gnomAD v4 |
11 | g.70473108G>T | CA381675586 | SHANK2 | c.3544C>A (p.Gln1182Lys) c.1089C>A (n.1089C>A) c.5311C>A (p.Gln1771Lys) c.2820C>A c.4174C>A (p.Gln1392Lys) c.3601C>A (p.Gln1201Lys) c.3547C>A (p.Gln1183Lys) c.*315C>A (n.*315C>A) c.3523C>A (p.Gln1175Lys) c.1087C>A c.3148C>A (p.Gln1050Lys) n.2063C>A n.1165C>A c.5281C>A (p.Gln1761Lys) c.5323C>A (p.Gln1775Lys) c.5302C>A (p.Gln1768Lys) c.5296C>A (p.Gln1766Lys) c.5275C>A (p.Gln1759Lys) c.4186C>A (p.Gln1396Lys) c.5284C>A (p.Gln1762Lys) n.1166C>A | |
11 | g.70473108_70473120delinsGTTGCAGTATCGA | CA1981067912 | SHANK2 | c.3532_3544delinsTCGATACTGCAAC (p.Ser1178=) c.1077_1089delinsTCGATACTGCAAC (n.1077_1089delinsTCGATACTGCAAC) c.5299_5311delinsTCGATACTGCAAC (p.Ser1767=) c.2808_2820delinsTCGATACTGCAAC c.4162_4174delinsTCGATACTGCAAC (p.Ser1388=) c.3589_3601delinsTCGATACTGCAAC (p.Ser1197=) c.3535_3547delinsTCGATACTGCAAC (p.Ser1179=) c.*303_*315delinsTCGATACTGCAAC (n.*303_*315delinsTCGATACTGCAAC) c.3511_3523delinsTCGATACTGCAAC (p.Ser1171=) c.1075_1087delinsTCGATACTGCAAC c.3136_3148delinsTCGATACTGCAAC (p.Ser1046=) n.2051_2063delinsTCGATACTGCAAC n.1153_1165delinsTCGATACTGCAAC c.5269_5281delinsTCGATACTGCAAC (p.Ser1757=) c.5311_5323delinsTCGATACTGCAAC (p.Ser1771=) c.5290_5302delinsTCGATACTGCAAC (p.Ser1764=) c.5284_5296delinsTCGATACTGCAAC (p.Ser1762=) c.5263_5275delinsTCGATACTGCAAC (p.Ser1755=) c.4174_4186delinsTCGATACTGCAAC (p.Ser1392=) c.5272_5284delinsTCGATACTGCAAC (p.Ser1758=) n.1154_1166delinsTCGATACTGCAAC | |
11 | g.70473109T>A | CA381675589 | SHANK2 | c.3543A>T (p.Gln1181His) c.1088A>T (n.1088A>T) c.5310A>T (p.Gln1770His) c.2819A>T c.4173A>T (p.Gln1391His) c.3600A>T (p.Gln1200His) c.3546A>T (p.Gln1182His) c.*314A>T (n.*314A>T) c.3522A>T (p.Gln1174His) c.1086A>T c.3147A>T (p.Gln1049His) n.2062A>T n.1164A>T c.5280A>T (p.Gln1760His) c.5322A>T (p.Gln1774His) c.5301A>T (p.Gln1767His) c.5295A>T (p.Gln1765His) c.5274A>T (p.Gln1758His) c.4185A>T (p.Gln1395His) c.5283A>T (p.Gln1761His) n.1165A>T | |
11 | g.70473109T>C | CA475471088 | SHANK2 | c.3543A>G (p.Gln1181=) c.1088A>G (n.1088A>G) c.5310A>G (p.Gln1770=) c.2819A>G c.4173A>G (p.Gln1391=) c.3600A>G (p.Gln1200=) c.3546A>G (p.Gln1182=) c.*314A>G (n.*314A>G) c.3522A>G (p.Gln1174=) c.1086A>G c.3147A>G (p.Gln1049=) n.2062A>G n.1164A>G c.5280A>G (p.Gln1760=) c.5322A>G (p.Gln1774=) c.5301A>G (p.Gln1767=) c.5295A>G (p.Gln1765=) c.5274A>G (p.Gln1758=) c.4185A>G (p.Gln1395=) c.5283A>G (p.Gln1761=) n.1165A>G | gnomAD v4 |
11 | g.70473109T>G | CA6160721 | SHANK2 | c.3543A>C (p.Gln1181His) c.1088A>C (n.1088A>C) c.5310A>C (p.Gln1770His) c.2819A>C c.4173A>C (p.Gln1391His) c.3600A>C (p.Gln1200His) c.3546A>C (p.Gln1182His) c.*314A>C (n.*314A>C) c.3522A>C (p.Gln1174His) c.1086A>C c.3147A>C (p.Gln1049His) n.2062A>C n.1164A>C c.5280A>C (p.Gln1760His) c.5322A>C (p.Gln1774His) c.5301A>C (p.Gln1767His) c.5295A>C (p.Gln1765His) c.5274A>C (p.Gln1758His) c.4185A>C (p.Gln1395His) c.5283A>C (p.Gln1761His) n.1165A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473109T= | CA1981067913 | SHANK2 | c.3543A= (p.Gln1181=) c.1088A= (n.1088A=) c.5310A= (p.Gln1770=) c.2819A= c.4173A= (p.Gln1391=) c.3600A= (p.Gln1200=) c.3546A= (p.Gln1182=) c.*314A= (n.*314A=) c.3522A= (p.Gln1174=) c.1086A= c.3147A= (p.Gln1049=) n.2062A= n.1164A= c.5280A= (p.Gln1760=) c.5322A= (p.Gln1774=) c.5301A= (p.Gln1767=) c.5295A= (p.Gln1765=) c.5274A= (p.Gln1758=) c.4185A= (p.Gln1395=) c.5283A= (p.Gln1761=) n.1165A= | |
11 | g.70473109_70473118del | CA600241157 | SHANK2 | c.3534_3543del (p.Ile1179SerfsTer28) c.1079_1088del (n.1079_1088del) c.5301_5310del (p.Ile1768SerfsTer28) c.2810_2819del c.4164_4173del (p.Ile1389SerfsTer28) c.3591_3600del (p.Ile1198SerfsTer28) c.3537_3546del (p.Ile1180SerfsTer28) c.*305_*314del (n.*305_*314del) c.3513_3522del (p.Ile1172SerfsTer28) c.1077_1086del c.3138_3147del (p.Ile1047SerfsTer28) n.2053_2062del n.1155_1164del c.5271_5280del (p.Ile1758SerfsTer28) c.5313_5322del (p.Ile1772SerfsTer28) c.5292_5301del (p.Ile1765SerfsTer28) c.5286_5295del (p.Ile1763SerfsTer28) c.5265_5274del (p.Ile1756SerfsTer28) c.4176_4185del (p.Ile1393SerfsTer28) c.5274_5283del (p.Ile1759SerfsTer28) n.1156_1165del | gnomAD v2 |
11 | g.70473109_70473120del | CA6160720 | SHANK2 | c.3532_3543del (p.Ser1178_Gln1181del) c.1077_1088del (n.1077_1088del) c.5299_5310del (p.Ser1767_Gln1770del) c.2808_2819del c.4162_4173del (p.Ser1388_Gln1391del) c.3589_3600del (p.Ser1197_Gln1200del) c.3535_3546del (p.Ser1179_Gln1182del) c.*303_*314del (n.*303_*314del) c.3511_3522del (p.Ser1171_Gln1174del) c.1075_1086del c.3136_3147del (p.Ser1046_Gln1049del) n.2051_2062del n.1153_1164del c.5269_5280del (p.Ser1757_Gln1760del) c.5311_5322del (p.Ser1771_Gln1774del) c.5290_5301del (p.Ser1764_Gln1767del) c.5284_5295del (p.Ser1762_Gln1765del) c.5263_5274del (p.Ser1755_Gln1758del) c.4174_4185del (p.Ser1392_Gln1395del) c.5272_5283del (p.Ser1758_Gln1761del) n.1154_1165del | dbSNP ExAC gnomAD v2 |
11 | g.70473110T>A | CA381675594 | SHANK2 | c.3542A>T (p.Gln1181Leu) c.1087A>T (n.1087A>T) c.5309A>T (p.Gln1770Leu) c.2818A>T c.4172A>T (p.Gln1391Leu) c.3599A>T (p.Gln1200Leu) c.3545A>T (p.Gln1182Leu) c.*313A>T (n.*313A>T) c.3521A>T (p.Gln1174Leu) c.1085A>T c.3146A>T (p.Gln1049Leu) n.2061A>T n.1163A>T c.5279A>T (p.Gln1760Leu) c.5321A>T (p.Gln1774Leu) c.5300A>T (p.Gln1767Leu) c.5294A>T (p.Gln1765Leu) c.5273A>T (p.Gln1758Leu) c.4184A>T (p.Gln1395Leu) c.5282A>T (p.Gln1761Leu) n.1164A>T | |
11 | g.70473110T>C | CA381675591 | SHANK2 | c.3542A>G (p.Gln1181Arg) c.1087A>G (n.1087A>G) c.5309A>G (p.Gln1770Arg) c.2818A>G c.4172A>G (p.Gln1391Arg) c.3599A>G (p.Gln1200Arg) c.3545A>G (p.Gln1182Arg) c.*313A>G (n.*313A>G) c.3521A>G (p.Gln1174Arg) c.1085A>G c.3146A>G (p.Gln1049Arg) n.2061A>G n.1163A>G c.5279A>G (p.Gln1760Arg) c.5321A>G (p.Gln1774Arg) c.5300A>G (p.Gln1767Arg) c.5294A>G (p.Gln1765Arg) c.5273A>G (p.Gln1758Arg) c.4184A>G (p.Gln1395Arg) c.5282A>G (p.Gln1761Arg) n.1164A>G | |
11 | g.70473110T>G | CA381675590 | SHANK2 | c.3542A>C (p.Gln1181Pro) c.1087A>C (n.1087A>C) c.5309A>C (p.Gln1770Pro) c.2818A>C c.4172A>C (p.Gln1391Pro) c.3599A>C (p.Gln1200Pro) c.3545A>C (p.Gln1182Pro) c.*313A>C (n.*313A>C) c.3521A>C (p.Gln1174Pro) c.1085A>C c.3146A>C (p.Gln1049Pro) n.2061A>C n.1163A>C c.5279A>C (p.Gln1760Pro) c.5321A>C (p.Gln1774Pro) c.5300A>C (p.Gln1767Pro) c.5294A>C (p.Gln1765Pro) c.5273A>C (p.Gln1758Pro) c.4184A>C (p.Gln1395Pro) c.5282A>C (p.Gln1761Pro) n.1164A>C | |
11 | g.70473111G>A | CA381675601 | SHANK2 | c.3541C>T (p.Gln1181Ter) c.1086C>T (n.1086C>T) c.5308C>T (p.Gln1770Ter) c.2817C>T c.4171C>T (p.Gln1391Ter) c.3598C>T (p.Gln1200Ter) c.3544C>T (p.Gln1182Ter) c.*312C>T (n.*312C>T) c.3520C>T (p.Gln1174Ter) c.1084C>T c.3145C>T (p.Gln1049Ter) n.2060C>T n.1162C>T c.5278C>T (p.Gln1760Ter) c.5320C>T (p.Gln1774Ter) c.5299C>T (p.Gln1767Ter) c.5293C>T (p.Gln1765Ter) c.5272C>T (p.Gln1758Ter) c.4183C>T (p.Gln1395Ter) c.5281C>T (p.Gln1761Ter) n.1163C>T | |
11 | g.70473111G>C | CA381675610 | SHANK2 | c.3541C>G (p.Gln1181Glu) c.1086C>G (n.1086C>G) c.5308C>G (p.Gln1770Glu) c.2817C>G c.4171C>G (p.Gln1391Glu) c.3598C>G (p.Gln1200Glu) c.3544C>G (p.Gln1182Glu) c.*312C>G (n.*312C>G) c.3520C>G (p.Gln1174Glu) c.1084C>G c.3145C>G (p.Gln1049Glu) n.2060C>G n.1162C>G c.5278C>G (p.Gln1760Glu) c.5320C>G (p.Gln1774Glu) c.5299C>G (p.Gln1767Glu) c.5293C>G (p.Gln1765Glu) c.5272C>G (p.Gln1758Glu) c.4183C>G (p.Gln1395Glu) c.5281C>G (p.Gln1761Glu) n.1163C>G | |
11 | g.70473111G>T | CA381675605 | SHANK2 | c.3541C>A (p.Gln1181Lys) c.1086C>A (n.1086C>A) c.5308C>A (p.Gln1770Lys) c.2817C>A c.4171C>A (p.Gln1391Lys) c.3598C>A (p.Gln1200Lys) c.3544C>A (p.Gln1182Lys) c.*312C>A (n.*312C>A) c.3520C>A (p.Gln1174Lys) c.1084C>A c.3145C>A (p.Gln1049Lys) n.2060C>A n.1162C>A c.5278C>A (p.Gln1760Lys) c.5320C>A (p.Gln1774Lys) c.5299C>A (p.Gln1767Lys) c.5293C>A (p.Gln1765Lys) c.5272C>A (p.Gln1758Lys) c.4183C>A (p.Gln1395Lys) c.5281C>A (p.Gln1761Lys) n.1163C>A | |
11 | g.70473112C>A | CA475471094 | SHANK2 | c.3540G>T (p.Leu1180=) c.1085G>T (n.1085G>T) c.5307G>T (p.Leu1769=) c.2816G>T c.4170G>T (p.Leu1390=) c.3597G>T (p.Leu1199=) c.3543G>T (p.Leu1181=) c.*311G>T (n.*311G>T) c.3519G>T (p.Leu1173=) c.1083G>T c.3144G>T (p.Leu1048=) n.2059G>T n.1161G>T c.5277G>T (p.Leu1759=) c.5319G>T (p.Leu1773=) c.5298G>T (p.Leu1766=) c.5292G>T (p.Leu1764=) c.5271G>T (p.Leu1757=) c.4182G>T (p.Leu1394=) c.5280G>T (p.Leu1760=) n.1162G>T | |
11 | g.70473112C>G | CA475471093 | SHANK2 | c.3540G>C (p.Leu1180=) c.1085G>C (n.1085G>C) c.5307G>C (p.Leu1769=) c.2816G>C c.4170G>C (p.Leu1390=) c.3597G>C (p.Leu1199=) c.3543G>C (p.Leu1181=) c.*311G>C (n.*311G>C) c.3519G>C (p.Leu1173=) c.1083G>C c.3144G>C (p.Leu1048=) n.2059G>C n.1161G>C c.5277G>C (p.Leu1759=) c.5319G>C (p.Leu1773=) c.5298G>C (p.Leu1766=) c.5292G>C (p.Leu1764=) c.5271G>C (p.Leu1757=) c.4182G>C (p.Leu1394=) c.5280G>C (p.Leu1760=) n.1162G>C | gnomAD v4 |
11 | g.70473112C>T | CA475471092 | SHANK2 | c.3540G>A (p.Leu1180=) c.1085G>A (n.1085G>A) c.5307G>A (p.Leu1769=) c.2816G>A c.4170G>A (p.Leu1390=) c.3597G>A (p.Leu1199=) c.3543G>A (p.Leu1181=) c.*311G>A (n.*311G>A) c.3519G>A (p.Leu1173=) c.1083G>A c.3144G>A (p.Leu1048=) n.2059G>A n.1161G>A c.5277G>A (p.Leu1759=) c.5319G>A (p.Leu1773=) c.5298G>A (p.Leu1766=) c.5292G>A (p.Leu1764=) c.5271G>A (p.Leu1757=) c.4182G>A (p.Leu1394=) c.5280G>A (p.Leu1760=) n.1162G>A | gnomAD v4 |
11 | g.70473113A= | CA1981067914 | SHANK2 | c.3539T= (p.Leu1180=) c.1084T= (n.1084T=) c.5306T= (p.Leu1769=) c.2815T= c.4169T= (p.Leu1390=) c.3596T= (p.Leu1199=) c.3542T= (p.Leu1181=) c.*310T= (n.*310T=) c.3518T= (p.Leu1173=) c.1082T= c.3143T= (p.Leu1048=) n.2058T= n.1160T= c.5276T= (p.Leu1759=) c.5318T= (p.Leu1773=) c.5297T= (p.Leu1766=) c.5291T= (p.Leu1764=) c.5270T= (p.Leu1757=) c.4181T= (p.Leu1394=) c.5279T= (p.Leu1760=) n.1161T= | |
11 | g.70473113A>C | CA6160723 | SHANK2 | c.3539T>G (p.Leu1180Arg) c.1084T>G (n.1084T>G) c.5306T>G (p.Leu1769Arg) c.2815T>G c.4169T>G (p.Leu1390Arg) c.3596T>G (p.Leu1199Arg) c.3542T>G (p.Leu1181Arg) c.*310T>G (n.*310T>G) c.3518T>G (p.Leu1173Arg) c.1082T>G c.3143T>G (p.Leu1048Arg) n.2058T>G n.1160T>G c.5276T>G (p.Leu1759Arg) c.5318T>G (p.Leu1773Arg) c.5297T>G (p.Leu1766Arg) c.5291T>G (p.Leu1764Arg) c.5270T>G (p.Leu1757Arg) c.4181T>G (p.Leu1394Arg) c.5279T>G (p.Leu1760Arg) n.1161T>G | dbSNP ExAC |
11 | g.70473113A>G | CA6160722 | SHANK2 | c.3539T>C (p.Leu1180Pro) c.1084T>C (n.1084T>C) c.5306T>C (p.Leu1769Pro) c.2815T>C c.4169T>C (p.Leu1390Pro) c.3596T>C (p.Leu1199Pro) c.3542T>C (p.Leu1181Pro) c.*310T>C (n.*310T>C) c.3518T>C (p.Leu1173Pro) c.1082T>C c.3143T>C (p.Leu1048Pro) n.2058T>C n.1160T>C c.5276T>C (p.Leu1759Pro) c.5318T>C (p.Leu1773Pro) c.5297T>C (p.Leu1766Pro) c.5291T>C (p.Leu1764Pro) c.5270T>C (p.Leu1757Pro) c.4181T>C (p.Leu1394Pro) c.5279T>C (p.Leu1760Pro) n.1161T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473113A>T | CA381675620 | SHANK2 | c.3539T>A (p.Leu1180Gln) c.1084T>A (n.1084T>A) c.5306T>A (p.Leu1769Gln) c.2815T>A c.4169T>A (p.Leu1390Gln) c.3596T>A (p.Leu1199Gln) c.3542T>A (p.Leu1181Gln) c.*310T>A (n.*310T>A) c.3518T>A (p.Leu1173Gln) c.1082T>A c.3143T>A (p.Leu1048Gln) n.2058T>A n.1160T>A c.5276T>A (p.Leu1759Gln) c.5318T>A (p.Leu1773Gln) c.5297T>A (p.Leu1766Gln) c.5291T>A (p.Leu1764Gln) c.5270T>A (p.Leu1757Gln) c.4181T>A (p.Leu1394Gln) c.5279T>A (p.Leu1760Gln) n.1161T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473114G>A | CA475471095 | SHANK2 | c.3538C>T (p.Leu1180=) c.1083C>T (n.1083C>T) c.5305C>T (p.Leu1769=) c.2814C>T c.4168C>T (p.Leu1390=) c.3595C>T (p.Leu1199=) c.3541C>T (p.Leu1181=) c.*309C>T (n.*309C>T) c.3517C>T (p.Leu1173=) c.1081C>T c.3142C>T (p.Leu1048=) n.2057C>T n.1159C>T c.5275C>T (p.Leu1759=) c.5317C>T (p.Leu1773=) c.5296C>T (p.Leu1766=) c.5290C>T (p.Leu1764=) c.5269C>T (p.Leu1757=) c.4180C>T (p.Leu1394=) c.5278C>T (p.Leu1760=) n.1160C>T | dbSNP |
11 | g.70473114G>C | CA381675631 | SHANK2 | c.3538C>G (p.Leu1180Val) c.1083C>G (n.1083C>G) c.5305C>G (p.Leu1769Val) c.2814C>G c.4168C>G (p.Leu1390Val) c.3595C>G (p.Leu1199Val) c.3541C>G (p.Leu1181Val) c.*309C>G (n.*309C>G) c.3517C>G (p.Leu1173Val) c.1081C>G c.3142C>G (p.Leu1048Val) n.2057C>G n.1159C>G c.5275C>G (p.Leu1759Val) c.5317C>G (p.Leu1773Val) c.5296C>G (p.Leu1766Val) c.5290C>G (p.Leu1764Val) c.5269C>G (p.Leu1757Val) c.4180C>G (p.Leu1394Val) c.5278C>G (p.Leu1760Val) n.1160C>G | |
11 | g.70473114G= | CA1981067915 | SHANK2 | c.3538C= (p.Leu1180=) c.1083C= (n.1083C=) c.5305C= (p.Leu1769=) c.2814C= c.4168C= (p.Leu1390=) c.3595C= (p.Leu1199=) c.3541C= (p.Leu1181=) c.*309C= (n.*309C=) c.3517C= (p.Leu1173=) c.1081C= c.3142C= (p.Leu1048=) n.2057C= n.1159C= c.5275C= (p.Leu1759=) c.5317C= (p.Leu1773=) c.5296C= (p.Leu1766=) c.5290C= (p.Leu1764=) c.5269C= (p.Leu1757=) c.4180C= (p.Leu1394=) c.5278C= (p.Leu1760=) n.1160C= | |
11 | g.70473114G>T | CA381675632 | SHANK2 | c.3538C>A (p.Leu1180Met) c.1083C>A (n.1083C>A) c.5305C>A (p.Leu1769Met) c.2814C>A c.4168C>A (p.Leu1390Met) c.3595C>A (p.Leu1199Met) c.3541C>A (p.Leu1181Met) c.*309C>A (n.*309C>A) c.3517C>A (p.Leu1173Met) c.1081C>A c.3142C>A (p.Leu1048Met) n.2057C>A n.1159C>A c.5275C>A (p.Leu1759Met) c.5317C>A (p.Leu1773Met) c.5296C>A (p.Leu1766Met) c.5290C>A (p.Leu1764Met) c.5269C>A (p.Leu1757Met) c.4180C>A (p.Leu1394Met) c.5278C>A (p.Leu1760Met) n.1160C>A | |
11 | g.70473115T>A | CA475471099 | SHANK2 | c.3537A>T (p.Ile1179=) c.1082A>T (n.1082A>T) c.5304A>T (p.Ile1768=) c.2813A>T c.4167A>T (p.Ile1389=) c.3594A>T (p.Ile1198=) c.3540A>T (p.Ile1180=) c.*308A>T (n.*308A>T) c.3516A>T (p.Ile1172=) c.1080A>T c.3141A>T (p.Ile1047=) n.2056A>T n.1158A>T c.5274A>T (p.Ile1758=) c.5316A>T (p.Ile1772=) c.5295A>T (p.Ile1765=) c.5289A>T (p.Ile1763=) c.5268A>T (p.Ile1756=) c.4179A>T (p.Ile1393=) c.5277A>T (p.Ile1759=) n.1159A>T | |
11 | g.70473115T>C | CA381675637 | SHANK2 | c.3537A>G (p.Ile1179Met) c.1082A>G (n.1082A>G) c.5304A>G (p.Ile1768Met) c.2813A>G c.4167A>G (p.Ile1389Met) c.3594A>G (p.Ile1198Met) c.3540A>G (p.Ile1180Met) c.*308A>G (n.*308A>G) c.3516A>G (p.Ile1172Met) c.1080A>G c.3141A>G (p.Ile1047Met) n.2056A>G n.1158A>G c.5274A>G (p.Ile1758Met) c.5316A>G (p.Ile1772Met) c.5295A>G (p.Ile1765Met) c.5289A>G (p.Ile1763Met) c.5268A>G (p.Ile1756Met) c.4179A>G (p.Ile1393Met) c.5277A>G (p.Ile1759Met) n.1159A>G | |
11 | g.70473115T>G | CA475471100 | SHANK2 | c.3537A>C (p.Ile1179=) c.1082A>C (n.1082A>C) c.5304A>C (p.Ile1768=) c.2813A>C c.4167A>C (p.Ile1389=) c.3594A>C (p.Ile1198=) c.3540A>C (p.Ile1180=) c.*308A>C (n.*308A>C) c.3516A>C (p.Ile1172=) c.1080A>C c.3141A>C (p.Ile1047=) n.2056A>C n.1158A>C c.5274A>C (p.Ile1758=) c.5316A>C (p.Ile1772=) c.5295A>C (p.Ile1765=) c.5289A>C (p.Ile1763=) c.5268A>C (p.Ile1756=) c.4179A>C (p.Ile1393=) c.5277A>C (p.Ile1759=) n.1159A>C | |
11 | g.70473116A>C | CA381675638 | SHANK2 | c.3536T>G (p.Ile1179Arg) c.1081T>G (n.1081T>G) c.5303T>G (p.Ile1768Arg) c.2812T>G c.4166T>G (p.Ile1389Arg) c.3593T>G (p.Ile1198Arg) c.3539T>G (p.Ile1180Arg) c.*307T>G (n.*307T>G) c.3515T>G (p.Ile1172Arg) c.1079T>G c.3140T>G (p.Ile1047Arg) n.2055T>G n.1157T>G c.5273T>G (p.Ile1758Arg) c.5315T>G (p.Ile1772Arg) c.5294T>G (p.Ile1765Arg) c.5288T>G (p.Ile1763Arg) c.5267T>G (p.Ile1756Arg) c.4178T>G (p.Ile1393Arg) c.5276T>G (p.Ile1759Arg) n.1158T>G | |
11 | g.70473116A>G | CA381675639 | SHANK2 | c.3536T>C (p.Ile1179Thr) c.1081T>C (n.1081T>C) c.5303T>C (p.Ile1768Thr) c.2812T>C c.4166T>C (p.Ile1389Thr) c.3593T>C (p.Ile1198Thr) c.3539T>C (p.Ile1180Thr) c.*307T>C (n.*307T>C) c.3515T>C (p.Ile1172Thr) c.1079T>C c.3140T>C (p.Ile1047Thr) n.2055T>C n.1157T>C c.5273T>C (p.Ile1758Thr) c.5315T>C (p.Ile1772Thr) c.5294T>C (p.Ile1765Thr) c.5288T>C (p.Ile1763Thr) c.5267T>C (p.Ile1756Thr) c.4178T>C (p.Ile1393Thr) c.5276T>C (p.Ile1759Thr) n.1158T>C | |
11 | g.70473116A>T | CA381675640 | SHANK2 | c.3536T>A (p.Ile1179Lys) c.1081T>A (n.1081T>A) c.5303T>A (p.Ile1768Lys) c.2812T>A c.4166T>A (p.Ile1389Lys) c.3593T>A (p.Ile1198Lys) c.3539T>A (p.Ile1180Lys) c.*307T>A (n.*307T>A) c.3515T>A (p.Ile1172Lys) c.1079T>A c.3140T>A (p.Ile1047Lys) n.2055T>A n.1157T>A c.5273T>A (p.Ile1758Lys) c.5315T>A (p.Ile1772Lys) c.5294T>A (p.Ile1765Lys) c.5288T>A (p.Ile1763Lys) c.5267T>A (p.Ile1756Lys) c.4178T>A (p.Ile1393Lys) c.5276T>A (p.Ile1759Lys) n.1158T>A | gnomAD v4 |
11 | g.70473117T>A | CA381675643 | SHANK2 | c.3535A>T (p.Ile1179Leu) c.1080A>T (n.1080A>T) c.5302A>T (p.Ile1768Leu) c.2811A>T c.4165A>T (p.Ile1389Leu) c.3592A>T (p.Ile1198Leu) c.3538A>T (p.Ile1180Leu) c.*306A>T (n.*306A>T) c.3514A>T (p.Ile1172Leu) c.1078A>T c.3139A>T (p.Ile1047Leu) n.2054A>T n.1156A>T c.5272A>T (p.Ile1758Leu) c.5314A>T (p.Ile1772Leu) c.5293A>T (p.Ile1765Leu) c.5287A>T (p.Ile1763Leu) c.5266A>T (p.Ile1756Leu) c.4177A>T (p.Ile1393Leu) c.5275A>T (p.Ile1759Leu) n.1157A>T | |
11 | g.70473117T>C | CA381675646 | SHANK2 | c.3535A>G (p.Ile1179Val) c.1080A>G (n.1080A>G) c.5302A>G (p.Ile1768Val) c.2811A>G c.4165A>G (p.Ile1389Val) c.3592A>G (p.Ile1198Val) c.3538A>G (p.Ile1180Val) c.*306A>G (n.*306A>G) c.3514A>G (p.Ile1172Val) c.1078A>G c.3139A>G (p.Ile1047Val) n.2054A>G n.1156A>G c.5272A>G (p.Ile1758Val) c.5314A>G (p.Ile1772Val) c.5293A>G (p.Ile1765Val) c.5287A>G (p.Ile1763Val) c.5266A>G (p.Ile1756Val) c.4177A>G (p.Ile1393Val) c.5275A>G (p.Ile1759Val) n.1157A>G | |
11 | g.70473117T>G | CA381675665 | SHANK2 | c.3535A>C (p.Ile1179Leu) c.1080A>C (n.1080A>C) c.5302A>C (p.Ile1768Leu) c.2811A>C c.4165A>C (p.Ile1389Leu) c.3592A>C (p.Ile1198Leu) c.3538A>C (p.Ile1180Leu) c.*306A>C (n.*306A>C) c.3514A>C (p.Ile1172Leu) c.1078A>C c.3139A>C (p.Ile1047Leu) n.2054A>C n.1156A>C c.5272A>C (p.Ile1758Leu) c.5314A>C (p.Ile1772Leu) c.5293A>C (p.Ile1765Leu) c.5287A>C (p.Ile1763Leu) c.5266A>C (p.Ile1756Leu) c.4177A>C (p.Ile1393Leu) c.5275A>C (p.Ile1759Leu) n.1157A>C | |
11 | g.70473118C>A | CA475471103 | SHANK2 | c.3534G>T (p.Ser1178=) c.1079G>T (n.1079G>T) c.5301G>T (p.Ser1767=) c.2810G>T c.4164G>T (p.Ser1388=) c.3591G>T (p.Ser1197=) c.3537G>T (p.Ser1179=) c.*305G>T (n.*305G>T) c.3513G>T (p.Ser1171=) c.1077G>T c.3138G>T (p.Ser1046=) n.2053G>T n.1155G>T c.5271G>T (p.Ser1757=) c.5313G>T (p.Ser1771=) c.5292G>T (p.Ser1764=) c.5286G>T (p.Ser1762=) c.5265G>T (p.Ser1755=) c.4176G>T (p.Ser1392=) c.5274G>T (p.Ser1758=) n.1156G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473118C= | CA1981067916 | SHANK2 | c.3534G= (p.Ser1178=) c.1079G= (n.1079G=) c.5301G= (p.Ser1767=) c.2810G= c.4164G= (p.Ser1388=) c.3591G= (p.Ser1197=) c.3537G= (p.Ser1179=) c.*305G= (n.*305G=) c.3513G= (p.Ser1171=) c.1077G= c.3138G= (p.Ser1046=) n.2053G= n.1155G= c.5271G= (p.Ser1757=) c.5313G= (p.Ser1771=) c.5292G= (p.Ser1764=) c.5286G= (p.Ser1762=) c.5265G= (p.Ser1755=) c.4176G= (p.Ser1392=) c.5274G= (p.Ser1758=) n.1156G= | |
11 | g.70473118C>G | CA475471104 | SHANK2 | c.3534G>C (p.Ser1178=) c.1079G>C (n.1079G>C) c.5301G>C (p.Ser1767=) c.2810G>C c.4164G>C (p.Ser1388=) c.3591G>C (p.Ser1197=) c.3537G>C (p.Ser1179=) c.*305G>C (n.*305G>C) c.3513G>C (p.Ser1171=) c.1077G>C c.3138G>C (p.Ser1046=) n.2053G>C n.1155G>C c.5271G>C (p.Ser1757=) c.5313G>C (p.Ser1771=) c.5292G>C (p.Ser1764=) c.5286G>C (p.Ser1762=) c.5265G>C (p.Ser1755=) c.4176G>C (p.Ser1392=) c.5274G>C (p.Ser1758=) n.1156G>C | |
11 | g.70473118C>T | CA6160724 | SHANK2 | c.3534G>A (p.Ser1178=) c.1079G>A (n.1079G>A) c.5301G>A (p.Ser1767=) c.2810G>A c.4164G>A (p.Ser1388=) c.3591G>A (p.Ser1197=) c.3537G>A (p.Ser1179=) c.*305G>A (n.*305G>A) c.3513G>A (p.Ser1171=) c.1077G>A c.3138G>A (p.Ser1046=) n.2053G>A n.1155G>A c.5271G>A (p.Ser1757=) c.5313G>A (p.Ser1771=) c.5292G>A (p.Ser1764=) c.5286G>A (p.Ser1762=) c.5265G>A (p.Ser1755=) c.4176G>A (p.Ser1392=) c.5274G>A (p.Ser1758=) n.1156G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473119G>A | CA6160725 | SHANK2 | c.3533C>T (p.Ser1178Leu) c.1078C>T (n.1078C>T) c.5300C>T (p.Ser1767Leu) c.2809C>T c.4163C>T (p.Ser1388Leu) c.3590C>T (p.Ser1197Leu) c.3536C>T (p.Ser1179Leu) c.*304C>T (n.*304C>T) c.3512C>T (p.Ser1171Leu) c.1076C>T c.3137C>T (p.Ser1046Leu) n.2052C>T n.1154C>T c.5270C>T (p.Ser1757Leu) c.5312C>T (p.Ser1771Leu) c.5291C>T (p.Ser1764Leu) c.5285C>T (p.Ser1762Leu) c.5264C>T (p.Ser1755Leu) c.4175C>T (p.Ser1392Leu) c.5273C>T (p.Ser1758Leu) n.1155C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473119G>C | CA381675677 | SHANK2 | c.3533C>G (p.Ser1178Trp) c.1078C>G (n.1078C>G) c.5300C>G (p.Ser1767Trp) c.2809C>G c.4163C>G (p.Ser1388Trp) c.3590C>G (p.Ser1197Trp) c.3536C>G (p.Ser1179Trp) c.*304C>G (n.*304C>G) c.3512C>G (p.Ser1171Trp) c.1076C>G c.3137C>G (p.Ser1046Trp) n.2052C>G n.1154C>G c.5270C>G (p.Ser1757Trp) c.5312C>G (p.Ser1771Trp) c.5291C>G (p.Ser1764Trp) c.5285C>G (p.Ser1762Trp) c.5264C>G (p.Ser1755Trp) c.4175C>G (p.Ser1392Trp) c.5273C>G (p.Ser1758Trp) n.1155C>G | dbSNP gnomAD v4 |
11 | g.70473119G= | CA1981067917 | SHANK2 | c.3533C= (p.Ser1178=) c.1078C= (n.1078C=) c.5300C= (p.Ser1767=) c.2809C= c.4163C= (p.Ser1388=) c.3590C= (p.Ser1197=) c.3536C= (p.Ser1179=) c.*304C= (n.*304C=) c.3512C= (p.Ser1171=) c.1076C= c.3137C= (p.Ser1046=) n.2052C= n.1154C= c.5270C= (p.Ser1757=) c.5312C= (p.Ser1771=) c.5291C= (p.Ser1764=) c.5285C= (p.Ser1762=) c.5264C= (p.Ser1755=) c.4175C= (p.Ser1392=) c.5273C= (p.Ser1758=) n.1155C= | |
11 | g.70473119G>T | CA381675674 | SHANK2 | c.3533C>A (p.Ser1178Ter) c.1078C>A (n.1078C>A) c.5300C>A (p.Ser1767Ter) c.2809C>A c.4163C>A (p.Ser1388Ter) c.3590C>A (p.Ser1197Ter) c.3536C>A (p.Ser1179Ter) c.*304C>A (n.*304C>A) c.3512C>A (p.Ser1171Ter) c.1076C>A c.3137C>A (p.Ser1046Ter) n.2052C>A n.1154C>A c.5270C>A (p.Ser1757Ter) c.5312C>A (p.Ser1771Ter) c.5291C>A (p.Ser1764Ter) c.5285C>A (p.Ser1762Ter) c.5264C>A (p.Ser1755Ter) c.4175C>A (p.Ser1392Ter) c.5273C>A (p.Ser1758Ter) n.1155C>A | |
11 | g.70473120A= | CA1981067918 | SHANK2 | c.3532T= (p.Ser1178=) c.1077T= (n.1077T=) c.5299T= (p.Ser1767=) c.2808T= c.4162T= (p.Ser1388=) c.3589T= (p.Ser1197=) c.3535T= (p.Ser1179=) c.*303T= (n.*303T=) c.3511T= (p.Ser1171=) c.1075T= c.3136T= (p.Ser1046=) n.2051T= n.1153T= c.5269T= (p.Ser1757=) c.5311T= (p.Ser1771=) c.5290T= (p.Ser1764=) c.5284T= (p.Ser1762=) c.5263T= (p.Ser1755=) c.4174T= (p.Ser1392=) c.5272T= (p.Ser1758=) n.1154T= | |
11 | g.70473120A>C | CA381675678 | SHANK2 | c.3532T>G (p.Ser1178Ala) c.1077T>G (n.1077T>G) c.5299T>G (p.Ser1767Ala) c.2808T>G c.4162T>G (p.Ser1388Ala) c.3589T>G (p.Ser1197Ala) c.3535T>G (p.Ser1179Ala) c.*303T>G (n.*303T>G) c.3511T>G (p.Ser1171Ala) c.1075T>G c.3136T>G (p.Ser1046Ala) n.2051T>G n.1153T>G c.5269T>G (p.Ser1757Ala) c.5311T>G (p.Ser1771Ala) c.5290T>G (p.Ser1764Ala) c.5284T>G (p.Ser1762Ala) c.5263T>G (p.Ser1755Ala) c.4174T>G (p.Ser1392Ala) c.5272T>G (p.Ser1758Ala) n.1154T>G | |
11 | g.70473120A>G | CA381675679 | SHANK2 | c.3532T>C (p.Ser1178Pro) c.1077T>C (n.1077T>C) c.5299T>C (p.Ser1767Pro) c.2808T>C c.4162T>C (p.Ser1388Pro) c.3589T>C (p.Ser1197Pro) c.3535T>C (p.Ser1179Pro) c.*303T>C (n.*303T>C) c.3511T>C (p.Ser1171Pro) c.1075T>C c.3136T>C (p.Ser1046Pro) n.2051T>C n.1153T>C c.5269T>C (p.Ser1757Pro) c.5311T>C (p.Ser1771Pro) c.5290T>C (p.Ser1764Pro) c.5284T>C (p.Ser1762Pro) c.5263T>C (p.Ser1755Pro) c.4174T>C (p.Ser1392Pro) c.5272T>C (p.Ser1758Pro) n.1154T>C | dbSNP gnomAD v2 |
11 | g.70473120A>T | CA381675680 | SHANK2 | c.3532T>A (p.Ser1178Thr) c.1077T>A (n.1077T>A) c.5299T>A (p.Ser1767Thr) c.2808T>A c.4162T>A (p.Ser1388Thr) c.3589T>A (p.Ser1197Thr) c.3535T>A (p.Ser1179Thr) c.*303T>A (n.*303T>A) c.3511T>A (p.Ser1171Thr) c.1075T>A c.3136T>A (p.Ser1046Thr) n.2051T>A n.1153T>A c.5269T>A (p.Ser1757Thr) c.5311T>A (p.Ser1771Thr) c.5290T>A (p.Ser1764Thr) c.5284T>A (p.Ser1762Thr) c.5263T>A (p.Ser1755Thr) c.4174T>A (p.Ser1392Thr) c.5272T>A (p.Ser1758Thr) n.1154T>A | |
11 | g.70473121G>A | CA475471108 | SHANK2 | c.3531C>T (p.Pro1177=) c.1076C>T (n.1076C>T) c.5298C>T (p.Pro1766=) c.2807C>T c.4161C>T (p.Pro1387=) c.3588C>T (p.Pro1196=) c.3534C>T (p.Pro1178=) c.*302C>T (n.*302C>T) c.3510C>T (p.Pro1170=) c.1074C>T c.3135C>T (p.Pro1045=) n.2050C>T n.1152C>T c.5268C>T (p.Pro1756=) c.5310C>T (p.Pro1770=) c.5289C>T (p.Pro1763=) c.5283C>T (p.Pro1761=) c.5262C>T (p.Pro1754=) c.4173C>T (p.Pro1391=) c.5271C>T (p.Pro1757=) n.1153C>T | COSMIC COSMIC COSMIC |
11 | g.70473121G>C | CA475471109 | SHANK2 | c.3531C>G (p.Pro1177=) c.1076C>G (n.1076C>G) c.5298C>G (p.Pro1766=) c.2807C>G c.4161C>G (p.Pro1387=) c.3588C>G (p.Pro1196=) c.3534C>G (p.Pro1178=) c.*302C>G (n.*302C>G) c.3510C>G (p.Pro1170=) c.1074C>G c.3135C>G (p.Pro1045=) n.2050C>G n.1152C>G c.5268C>G (p.Pro1756=) c.5310C>G (p.Pro1770=) c.5289C>G (p.Pro1763=) c.5283C>G (p.Pro1761=) c.5262C>G (p.Pro1754=) c.4173C>G (p.Pro1391=) c.5271C>G (p.Pro1757=) n.1153C>G | |
11 | g.70473121G>T | CA475471110 | SHANK2 | c.3531C>A (p.Pro1177=) c.1076C>A (n.1076C>A) c.5298C>A (p.Pro1766=) c.2807C>A c.4161C>A (p.Pro1387=) c.3588C>A (p.Pro1196=) c.3534C>A (p.Pro1178=) c.*302C>A (n.*302C>A) c.3510C>A (p.Pro1170=) c.1074C>A c.3135C>A (p.Pro1045=) n.2050C>A n.1152C>A c.5268C>A (p.Pro1756=) c.5310C>A (p.Pro1770=) c.5289C>A (p.Pro1763=) c.5283C>A (p.Pro1761=) c.5262C>A (p.Pro1754=) c.4173C>A (p.Pro1391=) c.5271C>A (p.Pro1757=) n.1153C>A | |
11 | g.70473122G>A | CA381675681 | SHANK2 | c.3530C>T (p.Pro1177Leu) c.1075C>T (n.1075C>T) c.5297C>T (p.Pro1766Leu) c.2806C>T c.4160C>T (p.Pro1387Leu) c.3587C>T (p.Pro1196Leu) c.3533C>T (p.Pro1178Leu) c.*301C>T (n.*301C>T) c.3509C>T (p.Pro1170Leu) c.1073C>T c.3134C>T (p.Pro1045Leu) n.2049C>T n.1151C>T c.5267C>T (p.Pro1756Leu) c.5309C>T (p.Pro1770Leu) c.5288C>T (p.Pro1763Leu) c.5282C>T (p.Pro1761Leu) c.5261C>T (p.Pro1754Leu) c.4172C>T (p.Pro1391Leu) c.5270C>T (p.Pro1757Leu) n.1152C>T | |
11 | g.70473122G>C | CA381675682 | SHANK2 | c.3530C>G (p.Pro1177Arg) c.1075C>G (n.1075C>G) c.5297C>G (p.Pro1766Arg) c.2806C>G c.4160C>G (p.Pro1387Arg) c.3587C>G (p.Pro1196Arg) c.3533C>G (p.Pro1178Arg) c.*301C>G (n.*301C>G) c.3509C>G (p.Pro1170Arg) c.1073C>G c.3134C>G (p.Pro1045Arg) n.2049C>G n.1151C>G c.5267C>G (p.Pro1756Arg) c.5309C>G (p.Pro1770Arg) c.5288C>G (p.Pro1763Arg) c.5282C>G (p.Pro1761Arg) c.5261C>G (p.Pro1754Arg) c.4172C>G (p.Pro1391Arg) c.5270C>G (p.Pro1757Arg) n.1152C>G | |
11 | g.70473122G>T | CA381675683 | SHANK2 | c.3530C>A (p.Pro1177His) c.1075C>A (n.1075C>A) c.5297C>A (p.Pro1766His) c.2806C>A c.4160C>A (p.Pro1387His) c.3587C>A (p.Pro1196His) c.3533C>A (p.Pro1178His) c.*301C>A (n.*301C>A) c.3509C>A (p.Pro1170His) c.1073C>A c.3134C>A (p.Pro1045His) n.2049C>A n.1151C>A c.5267C>A (p.Pro1756His) c.5309C>A (p.Pro1770His) c.5288C>A (p.Pro1763His) c.5282C>A (p.Pro1761His) c.5261C>A (p.Pro1754His) c.4172C>A (p.Pro1391His) c.5270C>A (p.Pro1757His) n.1152C>A | |
11 | g.70473123G>A | CA381675686 | SHANK2 | c.3529C>T (p.Pro1177Ser) c.1074C>T (n.1074C>T) c.5296C>T (p.Pro1766Ser) c.2805C>T c.4159C>T (p.Pro1387Ser) c.3586C>T (p.Pro1196Ser) c.3532C>T (p.Pro1178Ser) c.*300C>T (n.*300C>T) c.3508C>T (p.Pro1170Ser) c.1072C>T c.3133C>T (p.Pro1045Ser) n.2048C>T n.1150C>T c.5266C>T (p.Pro1756Ser) c.5308C>T (p.Pro1770Ser) c.5287C>T (p.Pro1763Ser) c.5281C>T (p.Pro1761Ser) c.5260C>T (p.Pro1754Ser) c.4171C>T (p.Pro1391Ser) c.5269C>T (p.Pro1757Ser) n.1151C>T | |
11 | g.70473123G>C | CA381675690 | SHANK2 | c.3529C>G (p.Pro1177Ala) c.1074C>G (n.1074C>G) c.5296C>G (p.Pro1766Ala) c.2805C>G c.4159C>G (p.Pro1387Ala) c.3586C>G (p.Pro1196Ala) c.3532C>G (p.Pro1178Ala) c.*300C>G (n.*300C>G) c.3508C>G (p.Pro1170Ala) c.1072C>G c.3133C>G (p.Pro1045Ala) n.2048C>G n.1150C>G c.5266C>G (p.Pro1756Ala) c.5308C>G (p.Pro1770Ala) c.5287C>G (p.Pro1763Ala) c.5281C>G (p.Pro1761Ala) c.5260C>G (p.Pro1754Ala) c.4171C>G (p.Pro1391Ala) c.5269C>G (p.Pro1757Ala) n.1151C>G | |
11 | g.70473123G>T | CA381675693 | SHANK2 | c.3529C>A (p.Pro1177Thr) c.1074C>A (n.1074C>A) c.5296C>A (p.Pro1766Thr) c.2805C>A c.4159C>A (p.Pro1387Thr) c.3586C>A (p.Pro1196Thr) c.3532C>A (p.Pro1178Thr) c.*300C>A (n.*300C>A) c.3508C>A (p.Pro1170Thr) c.1072C>A c.3133C>A (p.Pro1045Thr) n.2048C>A n.1150C>A c.5266C>A (p.Pro1756Thr) c.5308C>A (p.Pro1770Thr) c.5287C>A (p.Pro1763Thr) c.5281C>A (p.Pro1761Thr) c.5260C>A (p.Pro1754Thr) c.4171C>A (p.Pro1391Thr) c.5269C>A (p.Pro1757Thr) n.1151C>A | |
11 | g.70473124G>A | CA475471117 | SHANK2 | c.3528C>T (p.Ser1176=) c.1073C>T (n.1073C>T) c.5295C>T (p.Ser1765=) c.2804C>T c.4158C>T (p.Ser1386=) c.3585C>T (p.Ser1195=) c.3531C>T (p.Ser1177=) c.*299C>T (n.*299C>T) c.3507C>T (p.Ser1169=) c.1071C>T c.3132C>T (p.Ser1044=) n.2047C>T n.1149C>T c.5265C>T (p.Ser1755=) c.5307C>T (p.Ser1769=) c.5286C>T (p.Ser1762=) c.5280C>T (p.Ser1760=) c.5259C>T (p.Ser1753=) c.4170C>T (p.Ser1390=) c.5268C>T (p.Ser1756=) n.1150C>T | gnomAD v4 |
11 | g.70473124G>C | CA475471118 | SHANK2 | c.3528C>G (p.Ser1176=) c.1073C>G (n.1073C>G) c.5295C>G (p.Ser1765=) c.2804C>G c.4158C>G (p.Ser1386=) c.3585C>G (p.Ser1195=) c.3531C>G (p.Ser1177=) c.*299C>G (n.*299C>G) c.3507C>G (p.Ser1169=) c.1071C>G c.3132C>G (p.Ser1044=) n.2047C>G n.1149C>G c.5265C>G (p.Ser1755=) c.5307C>G (p.Ser1769=) c.5286C>G (p.Ser1762=) c.5280C>G (p.Ser1760=) c.5259C>G (p.Ser1753=) c.4170C>G (p.Ser1390=) c.5268C>G (p.Ser1756=) n.1150C>G | |
11 | g.70473124G= | CA1981067919 | SHANK2 | c.3528C= (p.Ser1176=) c.1073C= (n.1073C=) c.5295C= (p.Ser1765=) c.2804C= c.4158C= (p.Ser1386=) c.3585C= (p.Ser1195=) c.3531C= (p.Ser1177=) c.*299C= (n.*299C=) c.3507C= (p.Ser1169=) c.1071C= c.3132C= (p.Ser1044=) n.2047C= n.1149C= c.5265C= (p.Ser1755=) c.5307C= (p.Ser1769=) c.5286C= (p.Ser1762=) c.5280C= (p.Ser1760=) c.5259C= (p.Ser1753=) c.4170C= (p.Ser1390=) c.5268C= (p.Ser1756=) n.1150C= | |
11 | g.70473124G>T | CA475471119 | SHANK2 | c.3528C>A (p.Ser1176=) c.1073C>A (n.1073C>A) c.5295C>A (p.Ser1765=) c.2804C>A c.4158C>A (p.Ser1386=) c.3585C>A (p.Ser1195=) c.3531C>A (p.Ser1177=) c.*299C>A (n.*299C>A) c.3507C>A (p.Ser1169=) c.1071C>A c.3132C>A (p.Ser1044=) n.2047C>A n.1149C>A c.5265C>A (p.Ser1755=) c.5307C>A (p.Ser1769=) c.5286C>A (p.Ser1762=) c.5280C>A (p.Ser1760=) c.5259C>A (p.Ser1753=) c.4170C>A (p.Ser1390=) c.5268C>A (p.Ser1756=) n.1150C>A | dbSNP gnomAD v4 |
11 | g.70473125G>A | CA381675704 | SHANK2 | c.3527C>T (p.Ser1176Phe) c.1072C>T (n.1072C>T) c.5294C>T (p.Ser1765Phe) c.2803C>T c.4157C>T (p.Ser1386Phe) c.3584C>T (p.Ser1195Phe) c.3530C>T (p.Ser1177Phe) c.*298C>T (n.*298C>T) c.3506C>T (p.Ser1169Phe) c.1070C>T c.3131C>T (p.Ser1044Phe) n.2046C>T n.1148C>T c.5264C>T (p.Ser1755Phe) c.5306C>T (p.Ser1769Phe) c.5285C>T (p.Ser1762Phe) c.5279C>T (p.Ser1760Phe) c.5258C>T (p.Ser1753Phe) c.4169C>T (p.Ser1390Phe) c.5267C>T (p.Ser1756Phe) n.1149C>T | |
11 | g.70473125G>C | CA381675700 | SHANK2 | c.3527C>G (p.Ser1176Cys) c.1072C>G (n.1072C>G) c.5294C>G (p.Ser1765Cys) c.2803C>G c.4157C>G (p.Ser1386Cys) c.3584C>G (p.Ser1195Cys) c.3530C>G (p.Ser1177Cys) c.*298C>G (n.*298C>G) c.3506C>G (p.Ser1169Cys) c.1070C>G c.3131C>G (p.Ser1044Cys) n.2046C>G n.1148C>G c.5264C>G (p.Ser1755Cys) c.5306C>G (p.Ser1769Cys) c.5285C>G (p.Ser1762Cys) c.5279C>G (p.Ser1760Cys) c.5258C>G (p.Ser1753Cys) c.4169C>G (p.Ser1390Cys) c.5267C>G (p.Ser1756Cys) n.1149C>G | |
11 | g.70473125G>T | CA381675696 | SHANK2 | c.3527C>A (p.Ser1176Tyr) c.1072C>A (n.1072C>A) c.5294C>A (p.Ser1765Tyr) c.2803C>A c.4157C>A (p.Ser1386Tyr) c.3584C>A (p.Ser1195Tyr) c.3530C>A (p.Ser1177Tyr) c.*298C>A (n.*298C>A) c.3506C>A (p.Ser1169Tyr) c.1070C>A c.3131C>A (p.Ser1044Tyr) n.2046C>A n.1148C>A c.5264C>A (p.Ser1755Tyr) c.5306C>A (p.Ser1769Tyr) c.5285C>A (p.Ser1762Tyr) c.5279C>A (p.Ser1760Tyr) c.5258C>A (p.Ser1753Tyr) c.4169C>A (p.Ser1390Tyr) c.5267C>A (p.Ser1756Tyr) n.1149C>A | |
11 | g.70473126A= | CA1981067920 | SHANK2 | c.3526T= (p.Ser1176=) c.1071T= (n.1071T=) c.5293T= (p.Ser1765=) c.2802T= c.4156T= (p.Ser1386=) c.3583T= (p.Ser1195=) c.3529T= (p.Ser1177=) c.*297T= (n.*297T=) c.3505T= (p.Ser1169=) c.1069T= c.3130T= (p.Ser1044=) n.2045T= n.1147T= c.5263T= (p.Ser1755=) c.5305T= (p.Ser1769=) c.5284T= (p.Ser1762=) c.5278T= (p.Ser1760=) c.5257T= (p.Ser1753=) c.4168T= (p.Ser1390=) c.5266T= (p.Ser1756=) n.1148T= | |
11 | g.70473126A>C | CA381675707 | SHANK2 | c.3526T>G (p.Ser1176Ala) c.1071T>G (n.1071T>G) c.5293T>G (p.Ser1765Ala) c.2802T>G c.4156T>G (p.Ser1386Ala) c.3583T>G (p.Ser1195Ala) c.3529T>G (p.Ser1177Ala) c.*297T>G (n.*297T>G) c.3505T>G (p.Ser1169Ala) c.1069T>G c.3130T>G (p.Ser1044Ala) n.2045T>G n.1147T>G c.5263T>G (p.Ser1755Ala) c.5305T>G (p.Ser1769Ala) c.5284T>G (p.Ser1762Ala) c.5278T>G (p.Ser1760Ala) c.5257T>G (p.Ser1753Ala) c.4168T>G (p.Ser1390Ala) c.5266T>G (p.Ser1756Ala) n.1148T>G | |
11 | g.70473126A>G | CA381675711 | SHANK2 | c.3526T>C (p.Ser1176Pro) c.1071T>C (n.1071T>C) c.5293T>C (p.Ser1765Pro) c.2802T>C c.4156T>C (p.Ser1386Pro) c.3583T>C (p.Ser1195Pro) c.3529T>C (p.Ser1177Pro) c.*297T>C (n.*297T>C) c.3505T>C (p.Ser1169Pro) c.1069T>C c.3130T>C (p.Ser1044Pro) n.2045T>C n.1147T>C c.5263T>C (p.Ser1755Pro) c.5305T>C (p.Ser1769Pro) c.5284T>C (p.Ser1762Pro) c.5278T>C (p.Ser1760Pro) c.5257T>C (p.Ser1753Pro) c.4168T>C (p.Ser1390Pro) c.5266T>C (p.Ser1756Pro) n.1148T>C | dbSNP COSMIC COSMIC COSMIC |
11 | g.70473126A>T | CA381675714 | SHANK2 | c.3526T>A (p.Ser1176Thr) c.1071T>A (n.1071T>A) c.5293T>A (p.Ser1765Thr) c.2802T>A c.4156T>A (p.Ser1386Thr) c.3583T>A (p.Ser1195Thr) c.3529T>A (p.Ser1177Thr) c.*297T>A (n.*297T>A) c.3505T>A (p.Ser1169Thr) c.1069T>A c.3130T>A (p.Ser1044Thr) n.2045T>A n.1147T>A c.5263T>A (p.Ser1755Thr) c.5305T>A (p.Ser1769Thr) c.5284T>A (p.Ser1762Thr) c.5278T>A (p.Ser1760Thr) c.5257T>A (p.Ser1753Thr) c.4168T>A (p.Ser1390Thr) c.5266T>A (p.Ser1756Thr) n.1148T>A | |
11 | g.70473127T>A | CA475471122 | SHANK2 | c.3525A>T (p.Pro1175=) c.1070A>T (n.1070A>T) c.5292A>T (p.Pro1764=) c.2801A>T c.4155A>T (p.Pro1385=) c.3582A>T (p.Pro1194=) c.3528A>T (p.Pro1176=) c.*296A>T (n.*296A>T) c.3504A>T (p.Pro1168=) c.1068A>T c.3129A>T (p.Pro1043=) n.2044A>T n.1146A>T c.5262A>T (p.Pro1754=) c.5304A>T (p.Pro1768=) c.5283A>T (p.Pro1761=) c.5277A>T (p.Pro1759=) c.5256A>T (p.Pro1752=) c.4167A>T (p.Pro1389=) c.5265A>T (p.Pro1755=) n.1147A>T | |
11 | g.70473127T>C | CA475471123 | SHANK2 | c.3525A>G (p.Pro1175=) c.1070A>G (n.1070A>G) c.5292A>G (p.Pro1764=) c.2801A>G c.4155A>G (p.Pro1385=) c.3582A>G (p.Pro1194=) c.3528A>G (p.Pro1176=) c.*296A>G (n.*296A>G) c.3504A>G (p.Pro1168=) c.1068A>G c.3129A>G (p.Pro1043=) n.2044A>G n.1146A>G c.5262A>G (p.Pro1754=) c.5304A>G (p.Pro1768=) c.5283A>G (p.Pro1761=) c.5277A>G (p.Pro1759=) c.5256A>G (p.Pro1752=) c.4167A>G (p.Pro1389=) c.5265A>G (p.Pro1755=) n.1147A>G | |
11 | g.70473127T>G | CA475471124 | SHANK2 | c.3525A>C (p.Pro1175=) c.1070A>C (n.1070A>C) c.5292A>C (p.Pro1764=) c.2801A>C c.4155A>C (p.Pro1385=) c.3582A>C (p.Pro1194=) c.3528A>C (p.Pro1176=) c.*296A>C (n.*296A>C) c.3504A>C (p.Pro1168=) c.1068A>C c.3129A>C (p.Pro1043=) n.2044A>C n.1146A>C c.5262A>C (p.Pro1754=) c.5304A>C (p.Pro1768=) c.5283A>C (p.Pro1761=) c.5277A>C (p.Pro1759=) c.5256A>C (p.Pro1752=) c.4167A>C (p.Pro1389=) c.5265A>C (p.Pro1755=) n.1147A>C | |
11 | g.70473128G>A | CA381675721 | SHANK2 | c.3524C>T (p.Pro1175Leu) c.1069C>T (n.1069C>T) c.5291C>T (p.Pro1764Leu) c.2800C>T c.4154C>T (p.Pro1385Leu) c.3581C>T (p.Pro1194Leu) c.3527C>T (p.Pro1176Leu) c.*295C>T (n.*295C>T) c.3503C>T (p.Pro1168Leu) c.1067C>T c.3128C>T (p.Pro1043Leu) n.2043C>T n.1145C>T c.5261C>T (p.Pro1754Leu) c.5303C>T (p.Pro1768Leu) c.5282C>T (p.Pro1761Leu) c.5276C>T (p.Pro1759Leu) c.5255C>T (p.Pro1752Leu) c.4166C>T (p.Pro1389Leu) c.5264C>T (p.Pro1755Leu) n.1146C>T | |
11 | g.70473128G>C | CA381675723 | SHANK2 | c.3524C>G (p.Pro1175Arg) c.1069C>G (n.1069C>G) c.5291C>G (p.Pro1764Arg) c.2800C>G c.4154C>G (p.Pro1385Arg) c.3581C>G (p.Pro1194Arg) c.3527C>G (p.Pro1176Arg) c.*295C>G (n.*295C>G) c.3503C>G (p.Pro1168Arg) c.1067C>G c.3128C>G (p.Pro1043Arg) n.2043C>G n.1145C>G c.5261C>G (p.Pro1754Arg) c.5303C>G (p.Pro1768Arg) c.5282C>G (p.Pro1761Arg) c.5276C>G (p.Pro1759Arg) c.5255C>G (p.Pro1752Arg) c.4166C>G (p.Pro1389Arg) c.5264C>G (p.Pro1755Arg) n.1146C>G | |
11 | g.70473128G>T | CA381675724 | SHANK2 | c.3524C>A (p.Pro1175Gln) c.1069C>A (n.1069C>A) c.5291C>A (p.Pro1764Gln) c.2800C>A c.4154C>A (p.Pro1385Gln) c.3581C>A (p.Pro1194Gln) c.3527C>A (p.Pro1176Gln) c.*295C>A (n.*295C>A) c.3503C>A (p.Pro1168Gln) c.1067C>A c.3128C>A (p.Pro1043Gln) n.2043C>A n.1145C>A c.5261C>A (p.Pro1754Gln) c.5303C>A (p.Pro1768Gln) c.5282C>A (p.Pro1761Gln) c.5276C>A (p.Pro1759Gln) c.5255C>A (p.Pro1752Gln) c.4166C>A (p.Pro1389Gln) c.5264C>A (p.Pro1755Gln) n.1146C>A | |
11 | g.70473129G>A | CA381675729 | SHANK2 | c.3523C>T (p.Pro1175Ser) c.1068C>T (n.1068C>T) c.5290C>T (p.Pro1764Ser) c.2799C>T c.4153C>T (p.Pro1385Ser) c.3580C>T (p.Pro1194Ser) c.3526C>T (p.Pro1176Ser) c.*294C>T (n.*294C>T) c.3502C>T (p.Pro1168Ser) c.1066C>T c.3127C>T (p.Pro1043Ser) n.2042C>T n.1144C>T c.5260C>T (p.Pro1754Ser) c.5302C>T (p.Pro1768Ser) c.5281C>T (p.Pro1761Ser) c.5275C>T (p.Pro1759Ser) c.5254C>T (p.Pro1752Ser) c.4165C>T (p.Pro1389Ser) c.5263C>T (p.Pro1755Ser) n.1145C>T | |
11 | g.70473129G>C | CA381675734 | SHANK2 | c.3523C>G (p.Pro1175Ala) c.1068C>G (n.1068C>G) c.5290C>G (p.Pro1764Ala) c.2799C>G c.4153C>G (p.Pro1385Ala) c.3580C>G (p.Pro1194Ala) c.3526C>G (p.Pro1176Ala) c.*294C>G (n.*294C>G) c.3502C>G (p.Pro1168Ala) c.1066C>G c.3127C>G (p.Pro1043Ala) n.2042C>G n.1144C>G c.5260C>G (p.Pro1754Ala) c.5302C>G (p.Pro1768Ala) c.5281C>G (p.Pro1761Ala) c.5275C>G (p.Pro1759Ala) c.5254C>G (p.Pro1752Ala) c.4165C>G (p.Pro1389Ala) c.5263C>G (p.Pro1755Ala) n.1145C>G | |
11 | g.70473129G>T | CA381675736 | SHANK2 | c.3523C>A (p.Pro1175Thr) c.1068C>A (n.1068C>A) c.5290C>A (p.Pro1764Thr) c.2799C>A c.4153C>A (p.Pro1385Thr) c.3580C>A (p.Pro1194Thr) c.3526C>A (p.Pro1176Thr) c.*294C>A (n.*294C>A) c.3502C>A (p.Pro1168Thr) c.1066C>A c.3127C>A (p.Pro1043Thr) n.2042C>A n.1144C>A c.5260C>A (p.Pro1754Thr) c.5302C>A (p.Pro1768Thr) c.5281C>A (p.Pro1761Thr) c.5275C>A (p.Pro1759Thr) c.5254C>A (p.Pro1752Thr) c.4165C>A (p.Pro1389Thr) c.5263C>A (p.Pro1755Thr) n.1145C>A | |
11 | g.70473130C>A | CA475471126 | SHANK2 | c.3522G>T (p.Ser1174=) c.1067G>T (n.1067G>T) c.5289G>T (p.Ser1763=) c.2798G>T c.4152G>T (p.Ser1384=) c.3579G>T (p.Ser1193=) c.3525G>T (p.Ser1175=) c.*293G>T (n.*293G>T) c.3501G>T (p.Ser1167=) c.1065G>T c.3126G>T (p.Ser1042=) n.2041G>T n.1143G>T c.5259G>T (p.Ser1753=) c.5301G>T (p.Ser1767=) c.5280G>T (p.Ser1760=) c.5274G>T (p.Ser1758=) c.5253G>T (p.Ser1751=) c.4164G>T (p.Ser1388=) c.5262G>T (p.Ser1754=) n.1144G>T | |
11 | g.70473130C= | CA1981067921 | SHANK2 | c.3522G= (p.Ser1174=) c.1067G= (n.1067G=) c.5289G= (p.Ser1763=) c.2798G= c.4152G= (p.Ser1384=) c.3579G= (p.Ser1193=) c.3525G= (p.Ser1175=) c.*293G= (n.*293G=) c.3501G= (p.Ser1167=) c.1065G= c.3126G= (p.Ser1042=) n.2041G= n.1143G= c.5259G= (p.Ser1753=) c.5301G= (p.Ser1767=) c.5280G= (p.Ser1760=) c.5274G= (p.Ser1758=) c.5253G= (p.Ser1751=) c.4164G= (p.Ser1388=) c.5262G= (p.Ser1754=) n.1144G= | |
11 | g.70473130C>G | CA475471127 | SHANK2 | c.3522G>C (p.Ser1174=) c.1067G>C (n.1067G>C) c.5289G>C (p.Ser1763=) c.2798G>C c.4152G>C (p.Ser1384=) c.3579G>C (p.Ser1193=) c.3525G>C (p.Ser1175=) c.*293G>C (n.*293G>C) c.3501G>C (p.Ser1167=) c.1065G>C c.3126G>C (p.Ser1042=) n.2041G>C n.1143G>C c.5259G>C (p.Ser1753=) c.5301G>C (p.Ser1767=) c.5280G>C (p.Ser1760=) c.5274G>C (p.Ser1758=) c.5253G>C (p.Ser1751=) c.4164G>C (p.Ser1388=) c.5262G>C (p.Ser1754=) n.1144G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473130C>T | CA6160726 | SHANK2 | c.3522G>A (p.Ser1174=) c.1067G>A (n.1067G>A) c.5289G>A (p.Ser1763=) c.2798G>A c.4152G>A (p.Ser1384=) c.3579G>A (p.Ser1193=) c.3525G>A (p.Ser1175=) c.*293G>A (n.*293G>A) c.3501G>A (p.Ser1167=) c.1065G>A c.3126G>A (p.Ser1042=) n.2041G>A n.1143G>A c.5259G>A (p.Ser1753=) c.5301G>A (p.Ser1767=) c.5280G>A (p.Ser1760=) c.5274G>A (p.Ser1758=) c.5253G>A (p.Ser1751=) c.4164G>A (p.Ser1388=) c.5262G>A (p.Ser1754=) n.1144G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473131G>A | CA381675744 | SHANK2 | c.3521C>T (p.Ser1174Leu) c.1066C>T (n.1066C>T) c.5288C>T (p.Ser1763Leu) c.2797C>T c.4151C>T (p.Ser1384Leu) c.3578C>T (p.Ser1193Leu) c.3524C>T (p.Ser1175Leu) c.*292C>T (n.*292C>T) c.3500C>T (p.Ser1167Leu) c.1064C>T c.3125C>T (p.Ser1042Leu) n.2040C>T n.1142C>T c.5258C>T (p.Ser1753Leu) c.5300C>T (p.Ser1767Leu) c.5279C>T (p.Ser1760Leu) c.5273C>T (p.Ser1758Leu) c.5252C>T (p.Ser1751Leu) c.4163C>T (p.Ser1388Leu) c.5261C>T (p.Ser1754Leu) n.1143C>T | gnomAD v4 |
11 | g.70473131G>C | CA381675747 | SHANK2 | c.3521C>G (p.Ser1174Trp) c.1066C>G (n.1066C>G) c.5288C>G (p.Ser1763Trp) c.2797C>G c.4151C>G (p.Ser1384Trp) c.3578C>G (p.Ser1193Trp) c.3524C>G (p.Ser1175Trp) c.*292C>G (n.*292C>G) c.3500C>G (p.Ser1167Trp) c.1064C>G c.3125C>G (p.Ser1042Trp) n.2040C>G n.1142C>G c.5258C>G (p.Ser1753Trp) c.5300C>G (p.Ser1767Trp) c.5279C>G (p.Ser1760Trp) c.5273C>G (p.Ser1758Trp) c.5252C>G (p.Ser1751Trp) c.4163C>G (p.Ser1388Trp) c.5261C>G (p.Ser1754Trp) n.1143C>G | |
11 | g.70473131G>T | CA381675751 | SHANK2 | c.3521C>A (p.Ser1174Ter) c.1066C>A (n.1066C>A) c.5288C>A (p.Ser1763Ter) c.2797C>A c.4151C>A (p.Ser1384Ter) c.3578C>A (p.Ser1193Ter) c.3524C>A (p.Ser1175Ter) c.*292C>A (n.*292C>A) c.3500C>A (p.Ser1167Ter) c.1064C>A c.3125C>A (p.Ser1042Ter) n.2040C>A n.1142C>A c.5258C>A (p.Ser1753Ter) c.5300C>A (p.Ser1767Ter) c.5279C>A (p.Ser1760Ter) c.5273C>A (p.Ser1758Ter) c.5252C>A (p.Ser1751Ter) c.4163C>A (p.Ser1388Ter) c.5261C>A (p.Ser1754Ter) n.1143C>A | gnomAD v4 |
11 | g.70473132A= | CA1981067922 | SHANK2 | c.3520T= (p.Ser1174=) c.1065T= (n.1065T=) c.5287T= (p.Ser1763=) c.2796T= c.4150T= (p.Ser1384=) c.3577T= (p.Ser1193=) c.3523T= (p.Ser1175=) c.*291T= (n.*291T=) c.3499T= (p.Ser1167=) c.1063T= c.3124T= (p.Ser1042=) n.2039T= n.1141T= c.5257T= (p.Ser1753=) c.5299T= (p.Ser1767=) c.5278T= (p.Ser1760=) c.5272T= (p.Ser1758=) c.5251T= (p.Ser1751=) c.4162T= (p.Ser1388=) c.5260T= (p.Ser1754=) n.1142T= | |
11 | g.70473132A>C | CA381675756 | SHANK2 | c.3520T>G (p.Ser1174Ala) c.1065T>G (n.1065T>G) c.5287T>G (p.Ser1763Ala) c.2796T>G c.4150T>G (p.Ser1384Ala) c.3577T>G (p.Ser1193Ala) c.3523T>G (p.Ser1175Ala) c.*291T>G (n.*291T>G) c.3499T>G (p.Ser1167Ala) c.1063T>G c.3124T>G (p.Ser1042Ala) n.2039T>G n.1141T>G c.5257T>G (p.Ser1753Ala) c.5299T>G (p.Ser1767Ala) c.5278T>G (p.Ser1760Ala) c.5272T>G (p.Ser1758Ala) c.5251T>G (p.Ser1751Ala) c.4162T>G (p.Ser1388Ala) c.5260T>G (p.Ser1754Ala) n.1142T>G | dbSNP |
11 | g.70473132A>G | CA381675754 | SHANK2 | c.3520T>C (p.Ser1174Pro) c.1065T>C (n.1065T>C) c.5287T>C (p.Ser1763Pro) c.2796T>C c.4150T>C (p.Ser1384Pro) c.3577T>C (p.Ser1193Pro) c.3523T>C (p.Ser1175Pro) c.*291T>C (n.*291T>C) c.3499T>C (p.Ser1167Pro) c.1063T>C c.3124T>C (p.Ser1042Pro) n.2039T>C n.1141T>C c.5257T>C (p.Ser1753Pro) c.5299T>C (p.Ser1767Pro) c.5278T>C (p.Ser1760Pro) c.5272T>C (p.Ser1758Pro) c.5251T>C (p.Ser1751Pro) c.4162T>C (p.Ser1388Pro) c.5260T>C (p.Ser1754Pro) n.1142T>C | |
11 | g.70473132A>T | CA381675755 | SHANK2 | c.3520T>A (p.Ser1174Thr) c.1065T>A (n.1065T>A) c.5287T>A (p.Ser1763Thr) c.2796T>A c.4150T>A (p.Ser1384Thr) c.3577T>A (p.Ser1193Thr) c.3523T>A (p.Ser1175Thr) c.*291T>A (n.*291T>A) c.3499T>A (p.Ser1167Thr) c.1063T>A c.3124T>A (p.Ser1042Thr) n.2039T>A n.1141T>A c.5257T>A (p.Ser1753Thr) c.5299T>A (p.Ser1767Thr) c.5278T>A (p.Ser1760Thr) c.5272T>A (p.Ser1758Thr) c.5251T>A (p.Ser1751Thr) c.4162T>A (p.Ser1388Thr) c.5260T>A (p.Ser1754Thr) n.1142T>A | |
11 | g.70473133C>A | CA381675758 | SHANK2 | c.3519G>T (p.Arg1173Ser) c.1064G>T (n.1064G>T) c.5286G>T (p.Arg1762Ser) c.2795G>T c.4149G>T (p.Arg1383Ser) c.3576G>T (p.Arg1192Ser) c.3522G>T (p.Arg1174Ser) c.*290G>T (n.*290G>T) c.3498G>T (p.Arg1166Ser) c.1062G>T c.3123G>T (p.Arg1041Ser) n.2038G>T n.1140G>T c.5256G>T (p.Arg1752Ser) c.5298G>T (p.Arg1766Ser) c.5277G>T (p.Arg1759Ser) c.5271G>T (p.Arg1757Ser) c.5250G>T (p.Arg1750Ser) c.4161G>T (p.Arg1387Ser) c.5259G>T (p.Arg1753Ser) n.1141G>T | |
11 | g.70473133C>G | CA381675768 | SHANK2 | c.3519G>C (p.Arg1173Ser) c.1064G>C (n.1064G>C) c.5286G>C (p.Arg1762Ser) c.2795G>C c.4149G>C (p.Arg1383Ser) c.3576G>C (p.Arg1192Ser) c.3522G>C (p.Arg1174Ser) c.*290G>C (n.*290G>C) c.3498G>C (p.Arg1166Ser) c.1062G>C c.3123G>C (p.Arg1041Ser) n.2038G>C n.1140G>C c.5256G>C (p.Arg1752Ser) c.5298G>C (p.Arg1766Ser) c.5277G>C (p.Arg1759Ser) c.5271G>C (p.Arg1757Ser) c.5250G>C (p.Arg1750Ser) c.4161G>C (p.Arg1387Ser) c.5259G>C (p.Arg1753Ser) n.1141G>C | |
11 | g.70473133C>T | CA475471134 | SHANK2 | c.3519G>A (p.Arg1173=) c.1064G>A (n.1064G>A) c.5286G>A (p.Arg1762=) c.2795G>A c.4149G>A (p.Arg1383=) c.3576G>A (p.Arg1192=) c.3522G>A (p.Arg1174=) c.*290G>A (n.*290G>A) c.3498G>A (p.Arg1166=) c.1062G>A c.3123G>A (p.Arg1041=) n.2038G>A n.1140G>A c.5256G>A (p.Arg1752=) c.5298G>A (p.Arg1766=) c.5277G>A (p.Arg1759=) c.5271G>A (p.Arg1757=) c.5250G>A (p.Arg1750=) c.4161G>A (p.Arg1387=) c.5259G>A (p.Arg1753=) n.1141G>A | gnomAD v4 |
11 | g.70473134C>A | CA381675771 | SHANK2 | c.3518G>T (p.Arg1173Met) c.1063G>T (n.1063G>T) c.5285G>T (p.Arg1762Met) c.2794G>T c.4148G>T (p.Arg1383Met) c.3575G>T (p.Arg1192Met) c.3521G>T (p.Arg1174Met) c.*289G>T (n.*289G>T) c.3497G>T (p.Arg1166Met) c.1061G>T c.3122G>T (p.Arg1041Met) n.2037G>T n.1139G>T c.5255G>T (p.Arg1752Met) c.5297G>T (p.Arg1766Met) c.5276G>T (p.Arg1759Met) c.5270G>T (p.Arg1757Met) c.5249G>T (p.Arg1750Met) c.4160G>T (p.Arg1387Met) c.5258G>T (p.Arg1753Met) n.1140G>T | |
11 | g.70473134C= | CA1981067923 | SHANK2 | c.3518G= (p.Arg1173=) c.1063G= (n.1063G=) c.5285G= (p.Arg1762=) c.2794G= c.4148G= (p.Arg1383=) c.3575G= (p.Arg1192=) c.3521G= (p.Arg1174=) c.*289G= (n.*289G=) c.3497G= (p.Arg1166=) c.1061G= c.3122G= (p.Arg1041=) n.2037G= n.1139G= c.5255G= (p.Arg1752=) c.5297G= (p.Arg1766=) c.5276G= (p.Arg1759=) c.5270G= (p.Arg1757=) c.5249G= (p.Arg1750=) c.4160G= (p.Arg1387=) c.5258G= (p.Arg1753=) n.1140G= | |
11 | g.70473134C>G | CA6160727 | SHANK2 | c.3518G>C (p.Arg1173Thr) c.1063G>C (n.1063G>C) c.5285G>C (p.Arg1762Thr) c.2794G>C c.4148G>C (p.Arg1383Thr) c.3575G>C (p.Arg1192Thr) c.3521G>C (p.Arg1174Thr) c.*289G>C (n.*289G>C) c.3497G>C (p.Arg1166Thr) c.1061G>C c.3122G>C (p.Arg1041Thr) n.2037G>C n.1139G>C c.5255G>C (p.Arg1752Thr) c.5297G>C (p.Arg1766Thr) c.5276G>C (p.Arg1759Thr) c.5270G>C (p.Arg1757Thr) c.5249G>C (p.Arg1750Thr) c.4160G>C (p.Arg1387Thr) c.5258G>C (p.Arg1753Thr) n.1140G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473134C>T | CA381675780 | SHANK2 | c.3518G>A (p.Arg1173Lys) c.1063G>A (n.1063G>A) c.5285G>A (p.Arg1762Lys) c.2794G>A c.4148G>A (p.Arg1383Lys) c.3575G>A (p.Arg1192Lys) c.3521G>A (p.Arg1174Lys) c.*289G>A (n.*289G>A) c.3497G>A (p.Arg1166Lys) c.1061G>A c.3122G>A (p.Arg1041Lys) n.2037G>A n.1139G>A c.5255G>A (p.Arg1752Lys) c.5297G>A (p.Arg1766Lys) c.5276G>A (p.Arg1759Lys) c.5270G>A (p.Arg1757Lys) c.5249G>A (p.Arg1750Lys) c.4160G>A (p.Arg1387Lys) c.5258G>A (p.Arg1753Lys) n.1140G>A | gnomAD v4 |
11 | g.70473136_70473138del | CA2574908642 | SHANK2 | c.3516_3518del (p.Ser1172del) c.1061_1063del (n.1061_1063del) c.5283_5285del (p.Ser1761del) c.2792_2794del c.4146_4148del (p.Ser1382del) c.3573_3575del (p.Ser1191del) c.3519_3521del (p.Ser1173del) c.*287_*289del (n.*287_*289del) c.3495_3497del (p.Ser1165del) c.1059_1061del c.3120_3122del (p.Ser1040del) n.2035_2037del n.1137_1139del c.5253_5255del (p.Ser1751del) c.5295_5297del (p.Ser1765del) c.5274_5276del (p.Ser1758del) c.5268_5270del (p.Ser1756del) c.5247_5249del (p.Ser1749del) c.4158_4160del (p.Ser1386del) c.5256_5258del (p.Ser1752del) n.1138_1140del | |
11 | g.70473135T>A | CA381675783 | SHANK2 | c.3517A>T (p.Arg1173Trp) c.1062A>T (n.1062A>T) c.5284A>T (p.Arg1762Trp) c.2793A>T c.4147A>T (p.Arg1383Trp) c.3574A>T (p.Arg1192Trp) c.3520A>T (p.Arg1174Trp) c.*288A>T (n.*288A>T) c.3496A>T (p.Arg1166Trp) c.1060A>T c.3121A>T (p.Arg1041Trp) n.2036A>T n.1138A>T c.5254A>T (p.Arg1752Trp) c.5296A>T (p.Arg1766Trp) c.5275A>T (p.Arg1759Trp) c.5269A>T (p.Arg1757Trp) c.5248A>T (p.Arg1750Trp) c.4159A>T (p.Arg1387Trp) c.5257A>T (p.Arg1753Trp) n.1139A>T | |
11 | g.70473135T>C | CA381675785 | SHANK2 | c.3517A>G (p.Arg1173Gly) c.1062A>G (n.1062A>G) c.5284A>G (p.Arg1762Gly) c.2793A>G c.4147A>G (p.Arg1383Gly) c.3574A>G (p.Arg1192Gly) c.3520A>G (p.Arg1174Gly) c.*288A>G (n.*288A>G) c.3496A>G (p.Arg1166Gly) c.1060A>G c.3121A>G (p.Arg1041Gly) n.2036A>G n.1138A>G c.5254A>G (p.Arg1752Gly) c.5296A>G (p.Arg1766Gly) c.5275A>G (p.Arg1759Gly) c.5269A>G (p.Arg1757Gly) c.5248A>G (p.Arg1750Gly) c.4159A>G (p.Arg1387Gly) c.5257A>G (p.Arg1753Gly) n.1139A>G | |
11 | g.70473135T>G | CA475471135 | SHANK2 | c.3517A>C (p.Arg1173=) c.1062A>C (n.1062A>C) c.5284A>C (p.Arg1762=) c.2793A>C c.4147A>C (p.Arg1383=) c.3574A>C (p.Arg1192=) c.3520A>C (p.Arg1174=) c.*288A>C (n.*288A>C) c.3496A>C (p.Arg1166=) c.1060A>C c.3121A>C (p.Arg1041=) n.2036A>C n.1138A>C c.5254A>C (p.Arg1752=) c.5296A>C (p.Arg1766=) c.5275A>C (p.Arg1759=) c.5269A>C (p.Arg1757=) c.5248A>C (p.Arg1750=) c.4159A>C (p.Arg1387=) c.5257A>C (p.Arg1753=) n.1139A>C | |
11 | g.70473136A>C | CA381675786 | SHANK2 | c.3516T>G (p.Ser1172Arg) c.1061T>G (n.1061T>G) c.5283T>G (p.Ser1761Arg) c.2792T>G c.4146T>G (p.Ser1382Arg) c.3573T>G (p.Ser1191Arg) c.3519T>G (p.Ser1173Arg) c.*287T>G (n.*287T>G) c.3495T>G (p.Ser1165Arg) c.1059T>G c.3120T>G (p.Ser1040Arg) n.2035T>G n.1137T>G c.5253T>G (p.Ser1751Arg) c.5295T>G (p.Ser1765Arg) c.5274T>G (p.Ser1758Arg) c.5268T>G (p.Ser1756Arg) c.5247T>G (p.Ser1749Arg) c.4158T>G (p.Ser1386Arg) c.5256T>G (p.Ser1752Arg) n.1138T>G | |
11 | g.70473136A>G | CA475471137 | SHANK2 | c.3516T>C (p.Ser1172=) c.1061T>C (n.1061T>C) c.5283T>C (p.Ser1761=) c.2792T>C c.4146T>C (p.Ser1382=) c.3573T>C (p.Ser1191=) c.3519T>C (p.Ser1173=) c.*287T>C (n.*287T>C) c.3495T>C (p.Ser1165=) c.1059T>C c.3120T>C (p.Ser1040=) n.2035T>C n.1137T>C c.5253T>C (p.Ser1751=) c.5295T>C (p.Ser1765=) c.5274T>C (p.Ser1758=) c.5268T>C (p.Ser1756=) c.5247T>C (p.Ser1749=) c.4158T>C (p.Ser1386=) c.5256T>C (p.Ser1752=) n.1138T>C | |
11 | g.70473136A>T | CA381675787 | SHANK2 | c.3516T>A (p.Ser1172Arg) c.1061T>A (n.1061T>A) c.5283T>A (p.Ser1761Arg) c.2792T>A c.4146T>A (p.Ser1382Arg) c.3573T>A (p.Ser1191Arg) c.3519T>A (p.Ser1173Arg) c.*287T>A (n.*287T>A) c.3495T>A (p.Ser1165Arg) c.1059T>A c.3120T>A (p.Ser1040Arg) n.2035T>A n.1137T>A c.5253T>A (p.Ser1751Arg) c.5295T>A (p.Ser1765Arg) c.5274T>A (p.Ser1758Arg) c.5268T>A (p.Ser1756Arg) c.5247T>A (p.Ser1749Arg) c.4158T>A (p.Ser1386Arg) c.5256T>A (p.Ser1752Arg) n.1138T>A | |
11 | g.70473137C>A | CA381675790 | SHANK2 | c.3515G>T (p.Ser1172Ile) c.1060G>T (n.1060G>T) c.5282G>T (p.Ser1761Ile) c.2791G>T c.4145G>T (p.Ser1382Ile) c.3572G>T (p.Ser1191Ile) c.3518G>T (p.Ser1173Ile) c.*286G>T (n.*286G>T) c.3494G>T (p.Ser1165Ile) c.1058G>T c.3119G>T (p.Ser1040Ile) n.2034G>T n.1136G>T c.5252G>T (p.Ser1751Ile) c.5294G>T (p.Ser1765Ile) c.5273G>T (p.Ser1758Ile) c.5267G>T (p.Ser1756Ile) c.5246G>T (p.Ser1749Ile) c.4157G>T (p.Ser1386Ile) c.5255G>T (p.Ser1752Ile) n.1137G>T | |
11 | g.70473137C>G | CA381675795 | SHANK2 | c.3515G>C (p.Ser1172Thr) c.1060G>C (n.1060G>C) c.5282G>C (p.Ser1761Thr) c.2791G>C c.4145G>C (p.Ser1382Thr) c.3572G>C (p.Ser1191Thr) c.3518G>C (p.Ser1173Thr) c.*286G>C (n.*286G>C) c.3494G>C (p.Ser1165Thr) c.1058G>C c.3119G>C (p.Ser1040Thr) n.2034G>C n.1136G>C c.5252G>C (p.Ser1751Thr) c.5294G>C (p.Ser1765Thr) c.5273G>C (p.Ser1758Thr) c.5267G>C (p.Ser1756Thr) c.5246G>C (p.Ser1749Thr) c.4157G>C (p.Ser1386Thr) c.5255G>C (p.Ser1752Thr) n.1137G>C | |
11 | g.70473137C>T | CA381675797 | SHANK2 | c.3515G>A (p.Ser1172Asn) c.1060G>A (n.1060G>A) c.5282G>A (p.Ser1761Asn) c.2791G>A c.4145G>A (p.Ser1382Asn) c.3572G>A (p.Ser1191Asn) c.3518G>A (p.Ser1173Asn) c.*286G>A (n.*286G>A) c.3494G>A (p.Ser1165Asn) c.1058G>A c.3119G>A (p.Ser1040Asn) n.2034G>A n.1136G>A c.5252G>A (p.Ser1751Asn) c.5294G>A (p.Ser1765Asn) c.5273G>A (p.Ser1758Asn) c.5267G>A (p.Ser1756Asn) c.5246G>A (p.Ser1749Asn) c.4157G>A (p.Ser1386Asn) c.5255G>A (p.Ser1752Asn) n.1137G>A | |
11 | g.70473138T>A | CA381675800 | SHANK2 | c.3514A>T (p.Ser1172Cys) c.1059A>T (n.1059A>T) c.5281A>T (p.Ser1761Cys) c.2790A>T c.4144A>T (p.Ser1382Cys) c.3571A>T (p.Ser1191Cys) c.3517A>T (p.Ser1173Cys) c.*285A>T (n.*285A>T) c.3493A>T (p.Ser1165Cys) c.1057A>T c.3118A>T (p.Ser1040Cys) n.2033A>T n.1135A>T c.5251A>T (p.Ser1751Cys) c.5293A>T (p.Ser1765Cys) c.5272A>T (p.Ser1758Cys) c.5266A>T (p.Ser1756Cys) c.5245A>T (p.Ser1749Cys) c.4156A>T (p.Ser1386Cys) c.5254A>T (p.Ser1752Cys) n.1136A>T | |
11 | g.70473138T>C | CA381675801 | SHANK2 | c.3514A>G (p.Ser1172Gly) c.1059A>G (n.1059A>G) c.5281A>G (p.Ser1761Gly) c.2790A>G c.4144A>G (p.Ser1382Gly) c.3571A>G (p.Ser1191Gly) c.3517A>G (p.Ser1173Gly) c.*285A>G (n.*285A>G) c.3493A>G (p.Ser1165Gly) c.1057A>G c.3118A>G (p.Ser1040Gly) n.2033A>G n.1135A>G c.5251A>G (p.Ser1751Gly) c.5293A>G (p.Ser1765Gly) c.5272A>G (p.Ser1758Gly) c.5266A>G (p.Ser1756Gly) c.5245A>G (p.Ser1749Gly) c.4156A>G (p.Ser1386Gly) c.5254A>G (p.Ser1752Gly) n.1136A>G | |
11 | g.70473138T>G | CA381675799 | SHANK2 | c.3514A>C (p.Ser1172Arg) c.1059A>C (n.1059A>C) c.5281A>C (p.Ser1761Arg) c.2790A>C c.4144A>C (p.Ser1382Arg) c.3571A>C (p.Ser1191Arg) c.3517A>C (p.Ser1173Arg) c.*285A>C (n.*285A>C) c.3493A>C (p.Ser1165Arg) c.1057A>C c.3118A>C (p.Ser1040Arg) n.2033A>C n.1135A>C c.5251A>C (p.Ser1751Arg) c.5293A>C (p.Ser1765Arg) c.5272A>C (p.Ser1758Arg) c.5266A>C (p.Ser1756Arg) c.5245A>C (p.Ser1749Arg) c.4156A>C (p.Ser1386Arg) c.5254A>C (p.Ser1752Arg) n.1136A>C | |
11 | g.70473139G>A | CA6160728 | SHANK2 | c.3513C>T (p.Arg1171=) c.1058C>T (n.1058C>T) c.5280C>T (p.Arg1760=) c.2789C>T c.4143C>T (p.Arg1381=) c.3570C>T (p.Arg1190=) c.3516C>T (p.Arg1172=) c.*284C>T (n.*284C>T) c.3492C>T (p.Arg1164=) c.1056C>T c.3117C>T (p.Arg1039=) n.2032C>T n.1134C>T c.5250C>T (p.Arg1750=) c.5292C>T (p.Arg1764=) c.5271C>T (p.Arg1757=) c.5265C>T (p.Arg1755=) c.5244C>T (p.Arg1748=) c.4155C>T (p.Arg1385=) c.5253C>T (p.Arg1751=) n.1135C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473139G>C | CA475471140 | SHANK2 | c.3513C>G (p.Arg1171=) c.1058C>G (n.1058C>G) c.5280C>G (p.Arg1760=) c.2789C>G c.4143C>G (p.Arg1381=) c.3570C>G (p.Arg1190=) c.3516C>G (p.Arg1172=) c.*284C>G (n.*284C>G) c.3492C>G (p.Arg1164=) c.1056C>G c.3117C>G (p.Arg1039=) n.2032C>G n.1134C>G c.5250C>G (p.Arg1750=) c.5292C>G (p.Arg1764=) c.5271C>G (p.Arg1757=) c.5265C>G (p.Arg1755=) c.5244C>G (p.Arg1748=) c.4155C>G (p.Arg1385=) c.5253C>G (p.Arg1751=) n.1135C>G | |
11 | g.70473139G= | CA1981067924 | SHANK2 | c.3513C= (p.Arg1171=) c.1058C= (n.1058C=) c.5280C= (p.Arg1760=) c.2789C= c.4143C= (p.Arg1381=) c.3570C= (p.Arg1190=) c.3516C= (p.Arg1172=) c.*284C= (n.*284C=) c.3492C= (p.Arg1164=) c.1056C= c.3117C= (p.Arg1039=) n.2032C= n.1134C= c.5250C= (p.Arg1750=) c.5292C= (p.Arg1764=) c.5271C= (p.Arg1757=) c.5265C= (p.Arg1755=) c.5244C= (p.Arg1748=) c.4155C= (p.Arg1385=) c.5253C= (p.Arg1751=) n.1135C= | |
11 | g.70473139G>T | CA475471142 | SHANK2 | c.3513C>A (p.Arg1171=) c.1058C>A (n.1058C>A) c.5280C>A (p.Arg1760=) c.2789C>A c.4143C>A (p.Arg1381=) c.3570C>A (p.Arg1190=) c.3516C>A (p.Arg1172=) c.*284C>A (n.*284C>A) c.3492C>A (p.Arg1164=) c.1056C>A c.3117C>A (p.Arg1039=) n.2032C>A n.1134C>A c.5250C>A (p.Arg1750=) c.5292C>A (p.Arg1764=) c.5271C>A (p.Arg1757=) c.5265C>A (p.Arg1755=) c.5244C>A (p.Arg1748=) c.4155C>A (p.Arg1385=) c.5253C>A (p.Arg1751=) n.1135C>A | |
11 | g.70473140C>A | CA381675803 | SHANK2 | c.3512G>T (p.Arg1171Leu) c.1057G>T (n.1057G>T) c.5279G>T (p.Arg1760Leu) c.2788G>T c.4142G>T (p.Arg1381Leu) c.3569G>T (p.Arg1190Leu) c.3515G>T (p.Arg1172Leu) c.*283G>T (n.*283G>T) c.3491G>T (p.Arg1164Leu) c.1055G>T c.3116G>T (p.Arg1039Leu) n.2031G>T n.1133G>T c.5249G>T (p.Arg1750Leu) c.5291G>T (p.Arg1764Leu) c.5270G>T (p.Arg1757Leu) c.5264G>T (p.Arg1755Leu) c.5243G>T (p.Arg1748Leu) c.4154G>T (p.Arg1385Leu) c.5252G>T (p.Arg1751Leu) n.1134G>T | |
11 | g.70473140C= | CA1981067925 | SHANK2 | c.3512G= (p.Arg1171=) c.1057G= (n.1057G=) c.5279G= (p.Arg1760=) c.2788G= c.4142G= (p.Arg1381=) c.3569G= (p.Arg1190=) c.3515G= (p.Arg1172=) c.*283G= (n.*283G=) c.3491G= (p.Arg1164=) c.1055G= c.3116G= (p.Arg1039=) n.2031G= n.1133G= c.5249G= (p.Arg1750=) c.5291G= (p.Arg1764=) c.5270G= (p.Arg1757=) c.5264G= (p.Arg1755=) c.5243G= (p.Arg1748=) c.4154G= (p.Arg1385=) c.5252G= (p.Arg1751=) n.1134G= | |
11 | g.70473140C>G | CA381675804 | SHANK2 | c.3512G>C (p.Arg1171Pro) c.1057G>C (n.1057G>C) c.5279G>C (p.Arg1760Pro) c.2788G>C c.4142G>C (p.Arg1381Pro) c.3569G>C (p.Arg1190Pro) c.3515G>C (p.Arg1172Pro) c.*283G>C (n.*283G>C) c.3491G>C (p.Arg1164Pro) c.1055G>C c.3116G>C (p.Arg1039Pro) n.2031G>C n.1133G>C c.5249G>C (p.Arg1750Pro) c.5291G>C (p.Arg1764Pro) c.5270G>C (p.Arg1757Pro) c.5264G>C (p.Arg1755Pro) c.5243G>C (p.Arg1748Pro) c.4154G>C (p.Arg1385Pro) c.5252G>C (p.Arg1751Pro) n.1134G>C | |
11 | g.70473140C>T | CA6160729 | SHANK2 | c.3512G>A (p.Arg1171His) c.1057G>A (n.1057G>A) c.5279G>A (p.Arg1760His) c.2788G>A c.4142G>A (p.Arg1381His) c.3569G>A (p.Arg1190His) c.3515G>A (p.Arg1172His) c.*283G>A (n.*283G>A) c.3491G>A (p.Arg1164His) c.1055G>A c.3116G>A (p.Arg1039His) n.2031G>A n.1133G>A c.5249G>A (p.Arg1750His) c.5291G>A (p.Arg1764His) c.5270G>A (p.Arg1757His) c.5264G>A (p.Arg1755His) c.5243G>A (p.Arg1748His) c.4154G>A (p.Arg1385His) c.5252G>A (p.Arg1751His) n.1134G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473141G>A | CA381675807 | SHANK2 | c.3511C>T (p.Arg1171Cys) c.1056C>T (n.1056C>T) c.5278C>T (p.Arg1760Cys) c.2787C>T c.4141C>T (p.Arg1381Cys) c.3568C>T (p.Arg1190Cys) c.3514C>T (p.Arg1172Cys) c.*282C>T (n.*282C>T) c.3490C>T (p.Arg1164Cys) c.1054C>T c.3115C>T (p.Arg1039Cys) n.2030C>T n.1132C>T c.5248C>T (p.Arg1750Cys) c.5290C>T (p.Arg1764Cys) c.5269C>T (p.Arg1757Cys) c.5263C>T (p.Arg1755Cys) c.5242C>T (p.Arg1748Cys) c.4153C>T (p.Arg1385Cys) c.5251C>T (p.Arg1751Cys) n.1133C>T | gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473141G>C | CA381675808 | SHANK2 | c.3511C>G (p.Arg1171Gly) c.1056C>G (n.1056C>G) c.5278C>G (p.Arg1760Gly) c.2787C>G c.4141C>G (p.Arg1381Gly) c.3568C>G (p.Arg1190Gly) c.3514C>G (p.Arg1172Gly) c.*282C>G (n.*282C>G) c.3490C>G (p.Arg1164Gly) c.1054C>G c.3115C>G (p.Arg1039Gly) n.2030C>G n.1132C>G c.5248C>G (p.Arg1750Gly) c.5290C>G (p.Arg1764Gly) c.5269C>G (p.Arg1757Gly) c.5263C>G (p.Arg1755Gly) c.5242C>G (p.Arg1748Gly) c.4153C>G (p.Arg1385Gly) c.5251C>G (p.Arg1751Gly) n.1133C>G | |
11 | g.70473141G>T | CA381675809 | SHANK2 | c.3511C>A (p.Arg1171Ser) c.1056C>A (n.1056C>A) c.5278C>A (p.Arg1760Ser) c.2787C>A c.4141C>A (p.Arg1381Ser) c.3568C>A (p.Arg1190Ser) c.3514C>A (p.Arg1172Ser) c.*282C>A (n.*282C>A) c.3490C>A (p.Arg1164Ser) c.1054C>A c.3115C>A (p.Arg1039Ser) n.2030C>A n.1132C>A c.5248C>A (p.Arg1750Ser) c.5290C>A (p.Arg1764Ser) c.5269C>A (p.Arg1757Ser) c.5263C>A (p.Arg1755Ser) c.5242C>A (p.Arg1748Ser) c.4153C>A (p.Arg1385Ser) c.5251C>A (p.Arg1751Ser) n.1133C>A | |
11 | g.70473142del | CA2534072154 | SHANK2 | c.3510del (p.Arg1171AlafsTer?) c.1055del (n.1055del) c.5277del (p.Arg1760AlafsTer?) c.2786del c.4140del (p.Arg1381AlafsTer?) c.3567del (p.Arg1190AlafsTer?) c.3513del (p.Arg1172AlafsTer?) c.*281del (n.*281del) c.3489del (p.Arg1164AlafsTer?) c.1053del c.3114del (p.Arg1039AlafsTer?) n.2029del n.1131del c.5247del (p.Arg1750AlafsTer?) c.5289del (p.Arg1764AlafsTer?) c.5268del (p.Arg1757AlafsTer?) c.5262del (p.Arg1755AlafsTer?) c.5241del (p.Arg1748AlafsTer?) c.4152del (p.Arg1385AlafsTer?) c.5250del (p.Arg1751AlafsTer?) n.1132del | |
11 | g.70473142T>A | CA475471144 | SHANK2 | c.3510A>T (p.Gly1170=) c.1055A>T (n.1055A>T) c.5277A>T (p.Gly1759=) c.2786A>T c.4140A>T (p.Gly1380=) c.3567A>T (p.Gly1189=) c.3513A>T (p.Gly1171=) c.*281A>T (n.*281A>T) c.3489A>T (p.Gly1163=) c.1053A>T c.3114A>T (p.Gly1038=) n.2029A>T n.1131A>T c.5247A>T (p.Gly1749=) c.5289A>T (p.Gly1763=) c.5268A>T (p.Gly1756=) c.5262A>T (p.Gly1754=) c.5241A>T (p.Gly1747=) c.4152A>T (p.Gly1384=) c.5250A>T (p.Gly1750=) n.1132A>T | |
11 | g.70473142T>C | CA475471146 | SHANK2 | c.3510A>G (p.Gly1170=) c.1055A>G (n.1055A>G) c.5277A>G (p.Gly1759=) c.2786A>G c.4140A>G (p.Gly1380=) c.3567A>G (p.Gly1189=) c.3513A>G (p.Gly1171=) c.*281A>G (n.*281A>G) c.3489A>G (p.Gly1163=) c.1053A>G c.3114A>G (p.Gly1038=) n.2029A>G n.1131A>G c.5247A>G (p.Gly1749=) c.5289A>G (p.Gly1763=) c.5268A>G (p.Gly1756=) c.5262A>G (p.Gly1754=) c.5241A>G (p.Gly1747=) c.4152A>G (p.Gly1384=) c.5250A>G (p.Gly1750=) n.1132A>G | |
11 | g.70473142T>G | CA475471145 | SHANK2 | c.3510A>C (p.Gly1170=) c.1055A>C (n.1055A>C) c.5277A>C (p.Gly1759=) c.2786A>C c.4140A>C (p.Gly1380=) c.3567A>C (p.Gly1189=) c.3513A>C (p.Gly1171=) c.*281A>C (n.*281A>C) c.3489A>C (p.Gly1163=) c.1053A>C c.3114A>C (p.Gly1038=) n.2029A>C n.1131A>C c.5247A>C (p.Gly1749=) c.5289A>C (p.Gly1763=) c.5268A>C (p.Gly1756=) c.5262A>C (p.Gly1754=) c.5241A>C (p.Gly1747=) c.4152A>C (p.Gly1384=) c.5250A>C (p.Gly1750=) n.1132A>C | |
11 | g.70473143C>A | CA381675811 | SHANK2 | c.3509G>T (p.Gly1170Val) c.1054G>T (n.1054G>T) c.5276G>T (p.Gly1759Val) c.2785G>T c.4139G>T (p.Gly1380Val) c.3566G>T (p.Gly1189Val) c.3512G>T (p.Gly1171Val) c.*280G>T (n.*280G>T) c.3488G>T (p.Gly1163Val) c.1052G>T c.3113G>T (p.Gly1038Val) n.2028G>T n.1130G>T c.5246G>T (p.Gly1749Val) c.5288G>T (p.Gly1763Val) c.5267G>T (p.Gly1756Val) c.5261G>T (p.Gly1754Val) c.5240G>T (p.Gly1747Val) c.4151G>T (p.Gly1384Val) c.5249G>T (p.Gly1750Val) n.1131G>T | |
11 | g.70473143C>G | CA381675814 | SHANK2 | c.3509G>C (p.Gly1170Ala) c.1054G>C (n.1054G>C) c.5276G>C (p.Gly1759Ala) c.2785G>C c.4139G>C (p.Gly1380Ala) c.3566G>C (p.Gly1189Ala) c.3512G>C (p.Gly1171Ala) c.*280G>C (n.*280G>C) c.3488G>C (p.Gly1163Ala) c.1052G>C c.3113G>C (p.Gly1038Ala) n.2028G>C n.1130G>C c.5246G>C (p.Gly1749Ala) c.5288G>C (p.Gly1763Ala) c.5267G>C (p.Gly1756Ala) c.5261G>C (p.Gly1754Ala) c.5240G>C (p.Gly1747Ala) c.4151G>C (p.Gly1384Ala) c.5249G>C (p.Gly1750Ala) n.1131G>C | |
11 | g.70473143C>T | CA381675812 | SHANK2 | c.3509G>A (p.Gly1170Glu) c.1054G>A (n.1054G>A) c.5276G>A (p.Gly1759Glu) c.2785G>A c.4139G>A (p.Gly1380Glu) c.3566G>A (p.Gly1189Glu) c.3512G>A (p.Gly1171Glu) c.*280G>A (n.*280G>A) c.3488G>A (p.Gly1163Glu) c.1052G>A c.3113G>A (p.Gly1038Glu) n.2028G>A n.1130G>A c.5246G>A (p.Gly1749Glu) c.5288G>A (p.Gly1763Glu) c.5267G>A (p.Gly1756Glu) c.5261G>A (p.Gly1754Glu) c.5240G>A (p.Gly1747Glu) c.4151G>A (p.Gly1384Glu) c.5249G>A (p.Gly1750Glu) n.1131G>A | |
11 | g.70473144C>A | CA381675815 | SHANK2 | c.3508G>T (p.Gly1170Ter) c.1053G>T (n.1053G>T) c.5275G>T (p.Gly1759Ter) c.2784G>T c.4138G>T (p.Gly1380Ter) c.3565G>T (p.Gly1189Ter) c.3511G>T (p.Gly1171Ter) c.*279G>T (n.*279G>T) c.3487G>T (p.Gly1163Ter) c.1051G>T c.3112G>T (p.Gly1038Ter) n.2027G>T n.1129G>T c.5245G>T (p.Gly1749Ter) c.5287G>T (p.Gly1763Ter) c.5266G>T (p.Gly1756Ter) c.5260G>T (p.Gly1754Ter) c.5239G>T (p.Gly1747Ter) c.4150G>T (p.Gly1384Ter) c.5248G>T (p.Gly1750Ter) n.1130G>T | |
11 | g.70473144C>G | CA381675816 | SHANK2 | c.3508G>C (p.Gly1170Arg) c.1053G>C (n.1053G>C) c.5275G>C (p.Gly1759Arg) c.2784G>C c.4138G>C (p.Gly1380Arg) c.3565G>C (p.Gly1189Arg) c.3511G>C (p.Gly1171Arg) c.*279G>C (n.*279G>C) c.3487G>C (p.Gly1163Arg) c.1051G>C c.3112G>C (p.Gly1038Arg) n.2027G>C n.1129G>C c.5245G>C (p.Gly1749Arg) c.5287G>C (p.Gly1763Arg) c.5266G>C (p.Gly1756Arg) c.5260G>C (p.Gly1754Arg) c.5239G>C (p.Gly1747Arg) c.4150G>C (p.Gly1384Arg) c.5248G>C (p.Gly1750Arg) n.1130G>C | |
11 | g.70473144C>T | CA381675817 | SHANK2 | c.3508G>A (p.Gly1170Arg) c.1053G>A (n.1053G>A) c.5275G>A (p.Gly1759Arg) c.2784G>A c.4138G>A (p.Gly1380Arg) c.3565G>A (p.Gly1189Arg) c.3511G>A (p.Gly1171Arg) c.*279G>A (n.*279G>A) c.3487G>A (p.Gly1163Arg) c.1051G>A c.3112G>A (p.Gly1038Arg) n.2027G>A n.1129G>A c.5245G>A (p.Gly1749Arg) c.5287G>A (p.Gly1763Arg) c.5266G>A (p.Gly1756Arg) c.5260G>A (p.Gly1754Arg) c.5239G>A (p.Gly1747Arg) c.4150G>A (p.Gly1384Arg) c.5248G>A (p.Gly1750Arg) n.1130G>A | gnomAD v4 |
11 | g.70473145C>A | CA475471150 | SHANK2 | c.3507G>T (p.Ala1169=) c.1052G>T (n.1052G>T) c.5274G>T (p.Ala1758=) c.2783G>T c.4137G>T (p.Ala1379=) c.3564G>T (p.Ala1188=) c.3510G>T (p.Ala1170=) c.*278G>T (n.*278G>T) c.3486G>T (p.Ala1162=) c.1050G>T c.3111G>T (p.Ala1037=) n.2026G>T n.1128G>T c.5244G>T (p.Ala1748=) c.5286G>T (p.Ala1762=) c.5265G>T (p.Ala1755=) c.5259G>T (p.Ala1753=) c.5238G>T (p.Ala1746=) c.4149G>T (p.Ala1383=) c.5247G>T (p.Ala1749=) n.1129G>T | gnomAD v4 |
11 | g.70473145C= | CA1981067926 | SHANK2 | c.3507G= (p.Ala1169=) c.1052G= (n.1052G=) c.5274G= (p.Ala1758=) c.2783G= c.4137G= (p.Ala1379=) c.3564G= (p.Ala1188=) c.3510G= (p.Ala1170=) c.*278G= (n.*278G=) c.3486G= (p.Ala1162=) c.1050G= c.3111G= (p.Ala1037=) n.2026G= n.1128G= c.5244G= (p.Ala1748=) c.5286G= (p.Ala1762=) c.5265G= (p.Ala1755=) c.5259G= (p.Ala1753=) c.5238G= (p.Ala1746=) c.4149G= (p.Ala1383=) c.5247G= (p.Ala1749=) n.1129G= | |
11 | g.70473145C>G | CA475471151 | SHANK2 | c.3507G>C (p.Ala1169=) c.1052G>C (n.1052G>C) c.5274G>C (p.Ala1758=) c.2783G>C c.4137G>C (p.Ala1379=) c.3564G>C (p.Ala1188=) c.3510G>C (p.Ala1170=) c.*278G>C (n.*278G>C) c.3486G>C (p.Ala1162=) c.1050G>C c.3111G>C (p.Ala1037=) n.2026G>C n.1128G>C c.5244G>C (p.Ala1748=) c.5286G>C (p.Ala1762=) c.5265G>C (p.Ala1755=) c.5259G>C (p.Ala1753=) c.5238G>C (p.Ala1746=) c.4149G>C (p.Ala1383=) c.5247G>C (p.Ala1749=) n.1129G>C | |
11 | g.70473145C>T | CA6160730 | SHANK2 | c.3507G>A (p.Ala1169=) c.1052G>A (n.1052G>A) c.5274G>A (p.Ala1758=) c.2783G>A c.4137G>A (p.Ala1379=) c.3564G>A (p.Ala1188=) c.3510G>A (p.Ala1170=) c.*278G>A (n.*278G>A) c.3486G>A (p.Ala1162=) c.1050G>A c.3111G>A (p.Ala1037=) n.2026G>A n.1128G>A c.5244G>A (p.Ala1748=) c.5286G>A (p.Ala1762=) c.5265G>A (p.Ala1755=) c.5259G>A (p.Ala1753=) c.5238G>A (p.Ala1746=) c.4149G>A (p.Ala1383=) c.5247G>A (p.Ala1749=) n.1129G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.70473146_70473147del | CA2535764556 | SHANK2 | c.3506_3507del (p.Ala1169GlyfsTer4) c.1051_1052del (n.1051_1052del) c.5273_5274del (p.Ala1758GlyfsTer4) c.2782_2783del c.4136_4137del (p.Ala1379GlyfsTer4) c.3563_3564del (p.Ala1188GlyfsTer4) c.3509_3510del (p.Ala1170GlyfsTer4) c.*277_*278del (n.*277_*278del) c.3485_3486del (p.Ala1162GlyfsTer4) c.1049_1050del c.3110_3111del (p.Ala1037GlyfsTer4) n.2025_2026del n.1127_1128del c.5243_5244del (p.Ala1748GlyfsTer4) c.5285_5286del (p.Ala1762GlyfsTer4) c.5264_5265del (p.Ala1755GlyfsTer4) c.5258_5259del (p.Ala1753GlyfsTer4) c.5237_5238del (p.Ala1746GlyfsTer4) c.4148_4149del (p.Ala1383GlyfsTer4) c.5246_5247del (p.Ala1749GlyfsTer4) n.1128_1129del | |
11 | g.70473146G>A | CA6160731 | SHANK2 | c.3506C>T (p.Ala1169Val) c.1051C>T (n.1051C>T) c.5273C>T (p.Ala1758Val) c.2782C>T c.4136C>T (p.Ala1379Val) c.3563C>T (p.Ala1188Val) c.3509C>T (p.Ala1170Val) c.*277C>T (n.*277C>T) c.3485C>T (p.Ala1162Val) c.1049C>T c.3110C>T (p.Ala1037Val) n.2025C>T n.1127C>T c.5243C>T (p.Ala1748Val) c.5285C>T (p.Ala1762Val) c.5264C>T (p.Ala1755Val) c.5258C>T (p.Ala1753Val) c.5237C>T (p.Ala1746Val) c.4148C>T (p.Ala1383Val) c.5246C>T (p.Ala1749Val) n.1128C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473146G>C | CA381675818 | SHANK2 | c.3506C>G (p.Ala1169Gly) c.1051C>G (n.1051C>G) c.5273C>G (p.Ala1758Gly) c.2782C>G c.4136C>G (p.Ala1379Gly) c.3563C>G (p.Ala1188Gly) c.3509C>G (p.Ala1170Gly) c.*277C>G (n.*277C>G) c.3485C>G (p.Ala1162Gly) c.1049C>G c.3110C>G (p.Ala1037Gly) n.2025C>G n.1127C>G c.5243C>G (p.Ala1748Gly) c.5285C>G (p.Ala1762Gly) c.5264C>G (p.Ala1755Gly) c.5258C>G (p.Ala1753Gly) c.5237C>G (p.Ala1746Gly) c.4148C>G (p.Ala1383Gly) c.5246C>G (p.Ala1749Gly) n.1128C>G | |
11 | g.70473146G= | CA1981067927 | SHANK2 | c.3506C= (p.Ala1169=) c.1051C= (n.1051C=) c.5273C= (p.Ala1758=) c.2782C= c.4136C= (p.Ala1379=) c.3563C= (p.Ala1188=) c.3509C= (p.Ala1170=) c.*277C= (n.*277C=) c.3485C= (p.Ala1162=) c.1049C= c.3110C= (p.Ala1037=) n.2025C= n.1127C= c.5243C= (p.Ala1748=) c.5285C= (p.Ala1762=) c.5264C= (p.Ala1755=) c.5258C= (p.Ala1753=) c.5237C= (p.Ala1746=) c.4148C= (p.Ala1383=) c.5246C= (p.Ala1749=) n.1128C= | |
11 | g.70473146G>T | CA381675820 | SHANK2 | c.3506C>A (p.Ala1169Glu) c.1051C>A (n.1051C>A) c.5273C>A (p.Ala1758Glu) c.2782C>A c.4136C>A (p.Ala1379Glu) c.3563C>A (p.Ala1188Glu) c.3509C>A (p.Ala1170Glu) c.*277C>A (n.*277C>A) c.3485C>A (p.Ala1162Glu) c.1049C>A c.3110C>A (p.Ala1037Glu) n.2025C>A n.1127C>A c.5243C>A (p.Ala1748Glu) c.5285C>A (p.Ala1762Glu) c.5264C>A (p.Ala1755Glu) c.5258C>A (p.Ala1753Glu) c.5237C>A (p.Ala1746Glu) c.4148C>A (p.Ala1383Glu) c.5246C>A (p.Ala1749Glu) n.1128C>A | dbSNP |
11 | g.70473147C>A | CA381675823 | SHANK2 | c.3505G>T (p.Ala1169Ser) c.1050G>T (n.1050G>T) c.5272G>T (p.Ala1758Ser) c.2781G>T c.4135G>T (p.Ala1379Ser) c.3562G>T (p.Ala1188Ser) c.3508G>T (p.Ala1170Ser) c.*276G>T (n.*276G>T) c.3484G>T (p.Ala1162Ser) c.1048G>T c.3109G>T (p.Ala1037Ser) n.2024G>T n.1126G>T c.5242G>T (p.Ala1748Ser) c.5284G>T (p.Ala1762Ser) c.5263G>T (p.Ala1755Ser) c.5257G>T (p.Ala1753Ser) c.5236G>T (p.Ala1746Ser) c.4147G>T (p.Ala1383Ser) c.5245G>T (p.Ala1749Ser) n.1127G>T | |
11 | g.70473147C>G | CA381675825 | SHANK2 | c.3505G>C (p.Ala1169Pro) c.1050G>C (n.1050G>C) c.5272G>C (p.Ala1758Pro) c.2781G>C c.4135G>C (p.Ala1379Pro) c.3562G>C (p.Ala1188Pro) c.3508G>C (p.Ala1170Pro) c.*276G>C (n.*276G>C) c.3484G>C (p.Ala1162Pro) c.1048G>C c.3109G>C (p.Ala1037Pro) n.2024G>C n.1126G>C c.5242G>C (p.Ala1748Pro) c.5284G>C (p.Ala1762Pro) c.5263G>C (p.Ala1755Pro) c.5257G>C (p.Ala1753Pro) c.5236G>C (p.Ala1746Pro) c.4147G>C (p.Ala1383Pro) c.5245G>C (p.Ala1749Pro) n.1127G>C | gnomAD v4 |
11 | g.70473147C>T | CA381675827 | SHANK2 | c.3505G>A (p.Ala1169Thr) c.1050G>A (n.1050G>A) c.5272G>A (p.Ala1758Thr) c.2781G>A c.4135G>A (p.Ala1379Thr) c.3562G>A (p.Ala1188Thr) c.3508G>A (p.Ala1170Thr) c.*276G>A (n.*276G>A) c.3484G>A (p.Ala1162Thr) c.1048G>A c.3109G>A (p.Ala1037Thr) n.2024G>A n.1126G>A c.5242G>A (p.Ala1748Thr) c.5284G>A (p.Ala1762Thr) c.5263G>A (p.Ala1755Thr) c.5257G>A (p.Ala1753Thr) c.5236G>A (p.Ala1746Thr) c.4147G>A (p.Ala1383Thr) c.5245G>A (p.Ala1749Thr) n.1127G>A | |
11 | g.70473148T>A | CA475471154 | SHANK2 | c.3504A>T (p.Pro1168=) c.1049A>T (n.1049A>T) c.5271A>T (p.Pro1757=) c.2780A>T c.4134A>T (p.Pro1378=) c.3561A>T (p.Pro1187=) c.3507A>T (p.Pro1169=) c.*275A>T (n.*275A>T) c.3483A>T (p.Pro1161=) c.1047A>T c.3108A>T (p.Pro1036=) n.2023A>T n.1125A>T c.5241A>T (p.Pro1747=) c.5283A>T (p.Pro1761=) c.5262A>T (p.Pro1754=) c.5256A>T (p.Pro1752=) c.5235A>T (p.Pro1745=) c.4146A>T (p.Pro1382=) c.5244A>T (p.Pro1748=) n.1126A>T | |
11 | g.70473148T>C | CA475471158 | SHANK2 | c.3504A>G (p.Pro1168=) c.1049A>G (n.1049A>G) c.5271A>G (p.Pro1757=) c.2780A>G c.4134A>G (p.Pro1378=) c.3561A>G (p.Pro1187=) c.3507A>G (p.Pro1169=) c.*275A>G (n.*275A>G) c.3483A>G (p.Pro1161=) c.1047A>G c.3108A>G (p.Pro1036=) n.2023A>G n.1125A>G c.5241A>G (p.Pro1747=) c.5283A>G (p.Pro1761=) c.5262A>G (p.Pro1754=) c.5256A>G (p.Pro1752=) c.5235A>G (p.Pro1745=) c.4146A>G (p.Pro1382=) c.5244A>G (p.Pro1748=) n.1126A>G | |
11 | g.70473148T>G | CA475471157 | SHANK2 | c.3504A>C (p.Pro1168=) c.1049A>C (n.1049A>C) c.5271A>C (p.Pro1757=) c.2780A>C c.4134A>C (p.Pro1378=) c.3561A>C (p.Pro1187=) c.3507A>C (p.Pro1169=) c.*275A>C (n.*275A>C) c.3483A>C (p.Pro1161=) c.1047A>C c.3108A>C (p.Pro1036=) n.2023A>C n.1125A>C c.5241A>C (p.Pro1747=) c.5283A>C (p.Pro1761=) c.5262A>C (p.Pro1754=) c.5256A>C (p.Pro1752=) c.5235A>C (p.Pro1745=) c.4146A>C (p.Pro1382=) c.5244A>C (p.Pro1748=) n.1126A>C | |
11 | g.70473149G>A | CA381675829 | SHANK2 | c.3503C>T (p.Pro1168Leu) c.1048C>T (n.1048C>T) c.5270C>T (p.Pro1757Leu) c.2779C>T c.4133C>T (p.Pro1378Leu) c.3560C>T (p.Pro1187Leu) c.3506C>T (p.Pro1169Leu) c.*274C>T (n.*274C>T) c.3482C>T (p.Pro1161Leu) c.1046C>T c.3107C>T (p.Pro1036Leu) n.2022C>T n.1124C>T c.5240C>T (p.Pro1747Leu) c.5282C>T (p.Pro1761Leu) c.5261C>T (p.Pro1754Leu) c.5255C>T (p.Pro1752Leu) c.5234C>T (p.Pro1745Leu) c.4145C>T (p.Pro1382Leu) c.5243C>T (p.Pro1748Leu) n.1125C>T | |
11 | g.70473149G>C | CA381675831 | SHANK2 | c.3503C>G (p.Pro1168Arg) c.1048C>G (n.1048C>G) c.5270C>G (p.Pro1757Arg) c.2779C>G c.4133C>G (p.Pro1378Arg) c.3560C>G (p.Pro1187Arg) c.3506C>G (p.Pro1169Arg) c.*274C>G (n.*274C>G) c.3482C>G (p.Pro1161Arg) c.1046C>G c.3107C>G (p.Pro1036Arg) n.2022C>G n.1124C>G c.5240C>G (p.Pro1747Arg) c.5282C>G (p.Pro1761Arg) c.5261C>G (p.Pro1754Arg) c.5255C>G (p.Pro1752Arg) c.5234C>G (p.Pro1745Arg) c.4145C>G (p.Pro1382Arg) c.5243C>G (p.Pro1748Arg) n.1125C>G | gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473149G>T | CA381675833 | SHANK2 | c.3503C>A (p.Pro1168Gln) c.1048C>A (n.1048C>A) c.5270C>A (p.Pro1757Gln) c.2779C>A c.4133C>A (p.Pro1378Gln) c.3560C>A (p.Pro1187Gln) c.3506C>A (p.Pro1169Gln) c.*274C>A (n.*274C>A) c.3482C>A (p.Pro1161Gln) c.1046C>A c.3107C>A (p.Pro1036Gln) n.2022C>A n.1124C>A c.5240C>A (p.Pro1747Gln) c.5282C>A (p.Pro1761Gln) c.5261C>A (p.Pro1754Gln) c.5255C>A (p.Pro1752Gln) c.5234C>A (p.Pro1745Gln) c.4145C>A (p.Pro1382Gln) c.5243C>A (p.Pro1748Gln) n.1125C>A | |
11 | g.70473150G>A | CA6160732 | SHANK2 | c.3502C>T (p.Pro1168Ser) c.1047C>T (n.1047C>T) c.5269C>T (p.Pro1757Ser) c.2778C>T c.4132C>T (p.Pro1378Ser) c.3559C>T (p.Pro1187Ser) c.3505C>T (p.Pro1169Ser) c.*273C>T (n.*273C>T) c.3481C>T (p.Pro1161Ser) c.1045C>T c.3106C>T (p.Pro1036Ser) n.2021C>T n.1123C>T c.5239C>T (p.Pro1747Ser) c.5281C>T (p.Pro1761Ser) c.5260C>T (p.Pro1754Ser) c.5254C>T (p.Pro1752Ser) c.5233C>T (p.Pro1745Ser) c.4144C>T (p.Pro1382Ser) c.5242C>T (p.Pro1748Ser) n.1124C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473150G>C | CA381675834 | SHANK2 | c.3502C>G (p.Pro1168Ala) c.1047C>G (n.1047C>G) c.5269C>G (p.Pro1757Ala) c.2778C>G c.4132C>G (p.Pro1378Ala) c.3559C>G (p.Pro1187Ala) c.3505C>G (p.Pro1169Ala) c.*273C>G (n.*273C>G) c.3481C>G (p.Pro1161Ala) c.1045C>G c.3106C>G (p.Pro1036Ala) n.2021C>G n.1123C>G c.5239C>G (p.Pro1747Ala) c.5281C>G (p.Pro1761Ala) c.5260C>G (p.Pro1754Ala) c.5254C>G (p.Pro1752Ala) c.5233C>G (p.Pro1745Ala) c.4144C>G (p.Pro1382Ala) c.5242C>G (p.Pro1748Ala) n.1124C>G | gnomAD v4 |
11 | g.70473150G= | CA1981067928 | SHANK2 | c.3502C= (p.Pro1168=) c.1047C= (n.1047C=) c.5269C= (p.Pro1757=) c.2778C= c.4132C= (p.Pro1378=) c.3559C= (p.Pro1187=) c.3505C= (p.Pro1169=) c.*273C= (n.*273C=) c.3481C= (p.Pro1161=) c.1045C= c.3106C= (p.Pro1036=) n.2021C= n.1123C= c.5239C= (p.Pro1747=) c.5281C= (p.Pro1761=) c.5260C= (p.Pro1754=) c.5254C= (p.Pro1752=) c.5233C= (p.Pro1745=) c.4144C= (p.Pro1382=) c.5242C= (p.Pro1748=) n.1124C= | |
11 | g.70473150G>T | CA381675837 | SHANK2 | c.3502C>A (p.Pro1168Thr) c.1047C>A (n.1047C>A) c.5269C>A (p.Pro1757Thr) c.2778C>A c.4132C>A (p.Pro1378Thr) c.3559C>A (p.Pro1187Thr) c.3505C>A (p.Pro1169Thr) c.*273C>A (n.*273C>A) c.3481C>A (p.Pro1161Thr) c.1045C>A c.3106C>A (p.Pro1036Thr) n.2021C>A n.1123C>A c.5239C>A (p.Pro1747Thr) c.5281C>A (p.Pro1761Thr) c.5260C>A (p.Pro1754Thr) c.5254C>A (p.Pro1752Thr) c.5233C>A (p.Pro1745Thr) c.4144C>A (p.Pro1382Thr) c.5242C>A (p.Pro1748Thr) n.1124C>A | |
11 | g.70473151G>A | CA475471159 | SHANK2 | c.3501C>T (p.Asn1167=) c.1046C>T (n.1046C>T) c.5268C>T (p.Asn1756=) c.2777C>T c.4131C>T (p.Asn1377=) c.3558C>T (p.Asn1186=) c.3504C>T (p.Asn1168=) c.*272C>T (n.*272C>T) c.3480C>T (p.Asn1160=) c.1044C>T c.3105C>T (p.Asn1035=) n.2020C>T n.1122C>T c.5238C>T (p.Asn1746=) c.5280C>T (p.Asn1760=) c.5259C>T (p.Asn1753=) c.5253C>T (p.Asn1751=) c.5232C>T (p.Asn1744=) c.4143C>T (p.Asn1381=) c.5241C>T (p.Asn1747=) n.1123C>T | |
11 | g.70473151G>C | CA381675842 | SHANK2 | c.3501C>G (p.Asn1167Lys) c.1046C>G (n.1046C>G) c.5268C>G (p.Asn1756Lys) c.2777C>G c.4131C>G (p.Asn1377Lys) c.3558C>G (p.Asn1186Lys) c.3504C>G (p.Asn1168Lys) c.*272C>G (n.*272C>G) c.3480C>G (p.Asn1160Lys) c.1044C>G c.3105C>G (p.Asn1035Lys) n.2020C>G n.1122C>G c.5238C>G (p.Asn1746Lys) c.5280C>G (p.Asn1760Lys) c.5259C>G (p.Asn1753Lys) c.5253C>G (p.Asn1751Lys) c.5232C>G (p.Asn1744Lys) c.4143C>G (p.Asn1381Lys) c.5241C>G (p.Asn1747Lys) n.1123C>G | |
11 | g.70473151G>T | CA381675845 | SHANK2 | c.3501C>A (p.Asn1167Lys) c.1046C>A (n.1046C>A) c.5268C>A (p.Asn1756Lys) c.2777C>A c.4131C>A (p.Asn1377Lys) c.3558C>A (p.Asn1186Lys) c.3504C>A (p.Asn1168Lys) c.*272C>A (n.*272C>A) c.3480C>A (p.Asn1160Lys) c.1044C>A c.3105C>A (p.Asn1035Lys) n.2020C>A n.1122C>A c.5238C>A (p.Asn1746Lys) c.5280C>A (p.Asn1760Lys) c.5259C>A (p.Asn1753Lys) c.5253C>A (p.Asn1751Lys) c.5232C>A (p.Asn1744Lys) c.4143C>A (p.Asn1381Lys) c.5241C>A (p.Asn1747Lys) n.1123C>A | |
11 | g.70473152T>A | CA381675847 | SHANK2 | c.3500A>T (p.Asn1167Ile) c.1045A>T (n.1045A>T) c.5267A>T (p.Asn1756Ile) c.2776A>T c.4130A>T (p.Asn1377Ile) c.3557A>T (p.Asn1186Ile) c.3503A>T (p.Asn1168Ile) c.*271A>T (n.*271A>T) c.3479A>T (p.Asn1160Ile) c.1043A>T c.3104A>T (p.Asn1035Ile) n.2019A>T n.1121A>T c.5237A>T (p.Asn1746Ile) c.5279A>T (p.Asn1760Ile) c.5258A>T (p.Asn1753Ile) c.5252A>T (p.Asn1751Ile) c.5231A>T (p.Asn1744Ile) c.4142A>T (p.Asn1381Ile) c.5240A>T (p.Asn1747Ile) n.1122A>T | |
11 | g.70473152T>C | CA381675848 | SHANK2 | c.3500A>G (p.Asn1167Ser) c.1045A>G (n.1045A>G) c.5267A>G (p.Asn1756Ser) c.2776A>G c.4130A>G (p.Asn1377Ser) c.3557A>G (p.Asn1186Ser) c.3503A>G (p.Asn1168Ser) c.*271A>G (n.*271A>G) c.3479A>G (p.Asn1160Ser) c.1043A>G c.3104A>G (p.Asn1035Ser) n.2019A>G n.1121A>G c.5237A>G (p.Asn1746Ser) c.5279A>G (p.Asn1760Ser) c.5258A>G (p.Asn1753Ser) c.5252A>G (p.Asn1751Ser) c.5231A>G (p.Asn1744Ser) c.4142A>G (p.Asn1381Ser) c.5240A>G (p.Asn1747Ser) n.1122A>G | |
11 | g.70473152T>G | CA381675849 | SHANK2 | c.3500A>C (p.Asn1167Thr) c.1045A>C (n.1045A>C) c.5267A>C (p.Asn1756Thr) c.2776A>C c.4130A>C (p.Asn1377Thr) c.3557A>C (p.Asn1186Thr) c.3503A>C (p.Asn1168Thr) c.*271A>C (n.*271A>C) c.3479A>C (p.Asn1160Thr) c.1043A>C c.3104A>C (p.Asn1035Thr) n.2019A>C n.1121A>C c.5237A>C (p.Asn1746Thr) c.5279A>C (p.Asn1760Thr) c.5258A>C (p.Asn1753Thr) c.5252A>C (p.Asn1751Thr) c.5231A>C (p.Asn1744Thr) c.4142A>C (p.Asn1381Thr) c.5240A>C (p.Asn1747Thr) n.1122A>C | |
11 | g.70473153T>A | CA381675850 | SHANK2 | c.3499A>T (p.Asn1167Tyr) c.1044A>T (n.1044A>T) c.5266A>T (p.Asn1756Tyr) c.2775A>T c.4129A>T (p.Asn1377Tyr) c.3556A>T (p.Asn1186Tyr) c.3502A>T (p.Asn1168Tyr) c.*270A>T (n.*270A>T) c.3478A>T (p.Asn1160Tyr) c.1042A>T c.3103A>T (p.Asn1035Tyr) n.2018A>T n.1120A>T c.5236A>T (p.Asn1746Tyr) c.5278A>T (p.Asn1760Tyr) c.5257A>T (p.Asn1753Tyr) c.5251A>T (p.Asn1751Tyr) c.5230A>T (p.Asn1744Tyr) c.4141A>T (p.Asn1381Tyr) c.5239A>T (p.Asn1747Tyr) n.1121A>T | |
11 | g.70473153T>C | CA381675853 | SHANK2 | c.3499A>G (p.Asn1167Asp) c.1044A>G (n.1044A>G) c.5266A>G (p.Asn1756Asp) c.2775A>G c.4129A>G (p.Asn1377Asp) c.3556A>G (p.Asn1186Asp) c.3502A>G (p.Asn1168Asp) c.*270A>G (n.*270A>G) c.3478A>G (p.Asn1160Asp) c.1042A>G c.3103A>G (p.Asn1035Asp) n.2018A>G n.1120A>G c.5236A>G (p.Asn1746Asp) c.5278A>G (p.Asn1760Asp) c.5257A>G (p.Asn1753Asp) c.5251A>G (p.Asn1751Asp) c.5230A>G (p.Asn1744Asp) c.4141A>G (p.Asn1381Asp) c.5239A>G (p.Asn1747Asp) n.1121A>G | COSMIC COSMIC COSMIC |
11 | g.70473153T>G | CA381675852 | SHANK2 | c.3499A>C (p.Asn1167His) c.1044A>C (n.1044A>C) c.5266A>C (p.Asn1756His) c.2775A>C c.4129A>C (p.Asn1377His) c.3556A>C (p.Asn1186His) c.3502A>C (p.Asn1168His) c.*270A>C (n.*270A>C) c.3478A>C (p.Asn1160His) c.1042A>C c.3103A>C (p.Asn1035His) n.2018A>C n.1120A>C c.5236A>C (p.Asn1746His) c.5278A>C (p.Asn1760His) c.5257A>C (p.Asn1753His) c.5251A>C (p.Asn1751His) c.5230A>C (p.Asn1744His) c.4141A>C (p.Asn1381His) c.5239A>C (p.Asn1747His) n.1121A>C | |
11 | g.70473154C>A | CA381675854 | SHANK2 | c.3498G>T (p.Leu1166Phe) c.1043G>T (n.1043G>T) c.5265G>T (p.Leu1755Phe) c.2774G>T c.4128G>T (p.Leu1376Phe) c.3555G>T (p.Leu1185Phe) c.3501G>T (p.Leu1167Phe) c.*269G>T (n.*269G>T) c.3477G>T (p.Leu1159Phe) c.1041G>T c.3102G>T (p.Leu1034Phe) n.2017G>T n.1119G>T c.5235G>T (p.Leu1745Phe) c.5277G>T (p.Leu1759Phe) c.5256G>T (p.Leu1752Phe) c.5250G>T (p.Leu1750Phe) c.5229G>T (p.Leu1743Phe) c.4140G>T (p.Leu1380Phe) c.5238G>T (p.Leu1746Phe) n.1120G>T | |
11 | g.70473154C>G | CA381675855 | SHANK2 | c.3498G>C (p.Leu1166Phe) c.1043G>C (n.1043G>C) c.5265G>C (p.Leu1755Phe) c.2774G>C c.4128G>C (p.Leu1376Phe) c.3555G>C (p.Leu1185Phe) c.3501G>C (p.Leu1167Phe) c.*269G>C (n.*269G>C) c.3477G>C (p.Leu1159Phe) c.1041G>C c.3102G>C (p.Leu1034Phe) n.2017G>C n.1119G>C c.5235G>C (p.Leu1745Phe) c.5277G>C (p.Leu1759Phe) c.5256G>C (p.Leu1752Phe) c.5250G>C (p.Leu1750Phe) c.5229G>C (p.Leu1743Phe) c.4140G>C (p.Leu1380Phe) c.5238G>C (p.Leu1746Phe) n.1120G>C | |
11 | g.70473154C>T | CA475471163 | SHANK2 | c.3498G>A (p.Leu1166=) c.1043G>A (n.1043G>A) c.5265G>A (p.Leu1755=) c.2774G>A c.4128G>A (p.Leu1376=) c.3555G>A (p.Leu1185=) c.3501G>A (p.Leu1167=) c.*269G>A (n.*269G>A) c.3477G>A (p.Leu1159=) c.1041G>A c.3102G>A (p.Leu1034=) n.2017G>A n.1119G>A c.5235G>A (p.Leu1745=) c.5277G>A (p.Leu1759=) c.5256G>A (p.Leu1752=) c.5250G>A (p.Leu1750=) c.5229G>A (p.Leu1743=) c.4140G>A (p.Leu1380=) c.5238G>A (p.Leu1746=) n.1120G>A | |
11 | g.70473155A= | CA1981067929 | SHANK2 | c.3497T= (p.Leu1166=) c.1042T= (n.1042T=) c.5264T= (p.Leu1755=) c.2773T= c.4127T= (p.Leu1376=) c.3554T= (p.Leu1185=) c.3500T= (p.Leu1167=) c.*268T= (n.*268T=) c.3476T= (p.Leu1159=) c.1040T= c.3101T= (p.Leu1034=) n.2016T= n.1118T= c.5234T= (p.Leu1745=) c.5276T= (p.Leu1759=) c.5255T= (p.Leu1752=) c.5249T= (p.Leu1750=) c.5228T= (p.Leu1743=) c.4139T= (p.Leu1380=) c.5237T= (p.Leu1746=) n.1119T= | |
11 | g.70473155A>C | CA381675856 | SHANK2 | c.3497T>G (p.Leu1166Trp) c.1042T>G (n.1042T>G) c.5264T>G (p.Leu1755Trp) c.2773T>G c.4127T>G (p.Leu1376Trp) c.3554T>G (p.Leu1185Trp) c.3500T>G (p.Leu1167Trp) c.*268T>G (n.*268T>G) c.3476T>G (p.Leu1159Trp) c.1040T>G c.3101T>G (p.Leu1034Trp) n.2016T>G n.1118T>G c.5234T>G (p.Leu1745Trp) c.5276T>G (p.Leu1759Trp) c.5255T>G (p.Leu1752Trp) c.5249T>G (p.Leu1750Trp) c.5228T>G (p.Leu1743Trp) c.4139T>G (p.Leu1380Trp) c.5237T>G (p.Leu1746Trp) n.1119T>G | |
11 | g.70473155A>G | CA381675858 | SHANK2 | c.3497T>C (p.Leu1166Ser) c.1042T>C (n.1042T>C) c.5264T>C (p.Leu1755Ser) c.2773T>C c.4127T>C (p.Leu1376Ser) c.3554T>C (p.Leu1185Ser) c.3500T>C (p.Leu1167Ser) c.*268T>C (n.*268T>C) c.3476T>C (p.Leu1159Ser) c.1040T>C c.3101T>C (p.Leu1034Ser) n.2016T>C n.1118T>C c.5234T>C (p.Leu1745Ser) c.5276T>C (p.Leu1759Ser) c.5255T>C (p.Leu1752Ser) c.5249T>C (p.Leu1750Ser) c.5228T>C (p.Leu1743Ser) c.4139T>C (p.Leu1380Ser) c.5237T>C (p.Leu1746Ser) n.1119T>C | dbSNP gnomAD v4 |
11 | g.70473155A>T | CA381675860 | SHANK2 | c.3497T>A (p.Leu1166Ter) c.1042T>A (n.1042T>A) c.5264T>A (p.Leu1755Ter) c.2773T>A c.4127T>A (p.Leu1376Ter) c.3554T>A (p.Leu1185Ter) c.3500T>A (p.Leu1167Ter) c.*268T>A (n.*268T>A) c.3476T>A (p.Leu1159Ter) c.1040T>A c.3101T>A (p.Leu1034Ter) n.2016T>A n.1118T>A c.5234T>A (p.Leu1745Ter) c.5276T>A (p.Leu1759Ter) c.5255T>A (p.Leu1752Ter) c.5249T>A (p.Leu1750Ter) c.5228T>A (p.Leu1743Ter) c.4139T>A (p.Leu1380Ter) c.5237T>A (p.Leu1746Ter) n.1119T>A | |
11 | g.70473156A= | CA1981067930 | SHANK2 | c.3496T= (p.Leu1166=) c.1041T= (n.1041T=) c.5263T= (p.Leu1755=) c.2772T= c.4126T= (p.Leu1376=) c.3553T= (p.Leu1185=) c.3499T= (p.Leu1167=) c.*267T= (n.*267T=) c.3475T= (p.Leu1159=) c.1039T= c.3100T= (p.Leu1034=) n.2015T= n.1117T= c.5233T= (p.Leu1745=) c.5275T= (p.Leu1759=) c.5254T= (p.Leu1752=) c.5248T= (p.Leu1750=) c.5227T= (p.Leu1743=) c.4138T= (p.Leu1380=) c.5236T= (p.Leu1746=) n.1118T= | |
11 | g.70473156A>C | CA381675864 | SHANK2 | c.3496T>G (p.Leu1166Val) c.1041T>G (n.1041T>G) c.5263T>G (p.Leu1755Val) c.2772T>G c.4126T>G (p.Leu1376Val) c.3553T>G (p.Leu1185Val) c.3499T>G (p.Leu1167Val) c.*267T>G (n.*267T>G) c.3475T>G (p.Leu1159Val) c.1039T>G c.3100T>G (p.Leu1034Val) n.2015T>G n.1117T>G c.5233T>G (p.Leu1745Val) c.5275T>G (p.Leu1759Val) c.5254T>G (p.Leu1752Val) c.5248T>G (p.Leu1750Val) c.5227T>G (p.Leu1743Val) c.4138T>G (p.Leu1380Val) c.5236T>G (p.Leu1746Val) n.1118T>G | |
11 | g.70473156A>G | CA475471164 | SHANK2 | c.3496T>C (p.Leu1166=) c.1041T>C (n.1041T>C) c.5263T>C (p.Leu1755=) c.2772T>C c.4126T>C (p.Leu1376=) c.3553T>C (p.Leu1185=) c.3499T>C (p.Leu1167=) c.*267T>C (n.*267T>C) c.3475T>C (p.Leu1159=) c.1039T>C c.3100T>C (p.Leu1034=) n.2015T>C n.1117T>C c.5233T>C (p.Leu1745=) c.5275T>C (p.Leu1759=) c.5254T>C (p.Leu1752=) c.5248T>C (p.Leu1750=) c.5227T>C (p.Leu1743=) c.4138T>C (p.Leu1380=) c.5236T>C (p.Leu1746=) n.1118T>C | dbSNP gnomAD v2 |
11 | g.70473156A>T | CA381675866 | SHANK2 | c.3496T>A (p.Leu1166Met) c.1041T>A (n.1041T>A) c.5263T>A (p.Leu1755Met) c.2772T>A c.4126T>A (p.Leu1376Met) c.3553T>A (p.Leu1185Met) c.3499T>A (p.Leu1167Met) c.*267T>A (n.*267T>A) c.3475T>A (p.Leu1159Met) c.1039T>A c.3100T>A (p.Leu1034Met) n.2015T>A n.1117T>A c.5233T>A (p.Leu1745Met) c.5275T>A (p.Leu1759Met) c.5254T>A (p.Leu1752Met) c.5248T>A (p.Leu1750Met) c.5227T>A (p.Leu1743Met) c.4138T>A (p.Leu1380Met) c.5236T>A (p.Leu1746Met) n.1118T>A | |
11 | g.70473157G>A | CA475471168 | SHANK2 | c.3495C>T (p.Gly1165=) c.1040C>T (n.1040C>T) c.5262C>T (p.Gly1754=) c.2771C>T c.4125C>T (p.Gly1375=) c.3552C>T (p.Gly1184=) c.3498C>T (p.Gly1166=) c.*266C>T (n.*266C>T) c.3474C>T (p.Gly1158=) c.1038C>T c.3099C>T (p.Gly1033=) n.2014C>T n.1116C>T c.5232C>T (p.Gly1744=) c.5274C>T (p.Gly1758=) c.5253C>T (p.Gly1751=) c.5247C>T (p.Gly1749=) c.5226C>T (p.Gly1742=) c.4137C>T (p.Gly1379=) c.5235C>T (p.Gly1745=) n.1117C>T | |
11 | g.70473157G>C | CA475471165 | SHANK2 | c.3495C>G (p.Gly1165=) c.1040C>G (n.1040C>G) c.5262C>G (p.Gly1754=) c.2771C>G c.4125C>G (p.Gly1375=) c.3552C>G (p.Gly1184=) c.3498C>G (p.Gly1166=) c.*266C>G (n.*266C>G) c.3474C>G (p.Gly1158=) c.1038C>G c.3099C>G (p.Gly1033=) n.2014C>G n.1116C>G c.5232C>G (p.Gly1744=) c.5274C>G (p.Gly1758=) c.5253C>G (p.Gly1751=) c.5247C>G (p.Gly1749=) c.5226C>G (p.Gly1742=) c.4137C>G (p.Gly1379=) c.5235C>G (p.Gly1745=) n.1117C>G | |
11 | g.70473157G>T | CA475471167 | SHANK2 | c.3495C>A (p.Gly1165=) c.1040C>A (n.1040C>A) c.5262C>A (p.Gly1754=) c.2771C>A c.4125C>A (p.Gly1375=) c.3552C>A (p.Gly1184=) c.3498C>A (p.Gly1166=) c.*266C>A (n.*266C>A) c.3474C>A (p.Gly1158=) c.1038C>A c.3099C>A (p.Gly1033=) n.2014C>A n.1116C>A c.5232C>A (p.Gly1744=) c.5274C>A (p.Gly1758=) c.5253C>A (p.Gly1751=) c.5247C>A (p.Gly1749=) c.5226C>A (p.Gly1742=) c.4137C>A (p.Gly1379=) c.5235C>A (p.Gly1745=) n.1117C>A | |
11 | g.70473158C>A | CA381675872 | SHANK2 | c.3494G>T (p.Gly1165Val) c.1039G>T (n.1039G>T) c.5261G>T (p.Gly1754Val) c.2770G>T c.4124G>T (p.Gly1375Val) c.3551G>T (p.Gly1184Val) c.3497G>T (p.Gly1166Val) c.*265G>T (n.*265G>T) c.3473G>T (p.Gly1158Val) c.1037G>T c.3098G>T (p.Gly1033Val) n.2013G>T n.1115G>T c.5231G>T (p.Gly1744Val) c.5273G>T (p.Gly1758Val) c.5252G>T (p.Gly1751Val) c.5246G>T (p.Gly1749Val) c.5225G>T (p.Gly1742Val) c.4136G>T (p.Gly1379Val) c.5234G>T (p.Gly1745Val) n.1116G>T | gnomAD v4 |
11 | g.70473158C>G | CA381675874 | SHANK2 | c.3494G>C (p.Gly1165Ala) c.1039G>C (n.1039G>C) c.5261G>C (p.Gly1754Ala) c.2770G>C c.4124G>C (p.Gly1375Ala) c.3551G>C (p.Gly1184Ala) c.3497G>C (p.Gly1166Ala) c.*265G>C (n.*265G>C) c.3473G>C (p.Gly1158Ala) c.1037G>C c.3098G>C (p.Gly1033Ala) n.2013G>C n.1115G>C c.5231G>C (p.Gly1744Ala) c.5273G>C (p.Gly1758Ala) c.5252G>C (p.Gly1751Ala) c.5246G>C (p.Gly1749Ala) c.5225G>C (p.Gly1742Ala) c.4136G>C (p.Gly1379Ala) c.5234G>C (p.Gly1745Ala) n.1116G>C | |
11 | g.70473158C>T | CA381675876 | SHANK2 | c.3494G>A (p.Gly1165Asp) c.1039G>A (n.1039G>A) c.5261G>A (p.Gly1754Asp) c.2770G>A c.4124G>A (p.Gly1375Asp) c.3551G>A (p.Gly1184Asp) c.3497G>A (p.Gly1166Asp) c.*265G>A (n.*265G>A) c.3473G>A (p.Gly1158Asp) c.1037G>A c.3098G>A (p.Gly1033Asp) n.2013G>A n.1115G>A c.5231G>A (p.Gly1744Asp) c.5273G>A (p.Gly1758Asp) c.5252G>A (p.Gly1751Asp) c.5246G>A (p.Gly1749Asp) c.5225G>A (p.Gly1742Asp) c.4136G>A (p.Gly1379Asp) c.5234G>A (p.Gly1745Asp) n.1116G>A | |
11 | g.70473159C>A | CA381675877 | SHANK2 | c.3493G>T (p.Gly1165Cys) c.1038G>T (n.1038G>T) c.5260G>T (p.Gly1754Cys) c.2769G>T c.4123G>T (p.Gly1375Cys) c.3550G>T (p.Gly1184Cys) c.3496G>T (p.Gly1166Cys) c.*264G>T (n.*264G>T) c.3472G>T (p.Gly1158Cys) c.1036G>T c.3097G>T (p.Gly1033Cys) n.2012G>T n.1114G>T c.5230G>T (p.Gly1744Cys) c.5272G>T (p.Gly1758Cys) c.5251G>T (p.Gly1751Cys) c.5245G>T (p.Gly1749Cys) c.5224G>T (p.Gly1742Cys) c.4135G>T (p.Gly1379Cys) c.5233G>T (p.Gly1745Cys) n.1115G>T | |
11 | g.70473159C>G | CA381675879 | SHANK2 | c.3493G>C (p.Gly1165Arg) c.1038G>C (n.1038G>C) c.5260G>C (p.Gly1754Arg) c.2769G>C c.4123G>C (p.Gly1375Arg) c.3550G>C (p.Gly1184Arg) c.3496G>C (p.Gly1166Arg) c.*264G>C (n.*264G>C) c.3472G>C (p.Gly1158Arg) c.1036G>C c.3097G>C (p.Gly1033Arg) n.2012G>C n.1114G>C c.5230G>C (p.Gly1744Arg) c.5272G>C (p.Gly1758Arg) c.5251G>C (p.Gly1751Arg) c.5245G>C (p.Gly1749Arg) c.5224G>C (p.Gly1742Arg) c.4135G>C (p.Gly1379Arg) c.5233G>C (p.Gly1745Arg) n.1115G>C | gnomAD v4 |
11 | g.70473159C>T | CA381675880 | SHANK2 | c.3493G>A (p.Gly1165Ser) c.1038G>A (n.1038G>A) c.5260G>A (p.Gly1754Ser) c.2769G>A c.4123G>A (p.Gly1375Ser) c.3550G>A (p.Gly1184Ser) c.3496G>A (p.Gly1166Ser) c.*264G>A (n.*264G>A) c.3472G>A (p.Gly1158Ser) c.1036G>A c.3097G>A (p.Gly1033Ser) n.2012G>A n.1114G>A c.5230G>A (p.Gly1744Ser) c.5272G>A (p.Gly1758Ser) c.5251G>A (p.Gly1751Ser) c.5245G>A (p.Gly1749Ser) c.5224G>A (p.Gly1742Ser) c.4135G>A (p.Gly1379Ser) c.5233G>A (p.Gly1745Ser) n.1115G>A | |
11 | g.70473160A>C | CA381675893 | SHANK2 | c.3492T>G (p.Phe1164Leu) c.1037T>G (n.1037T>G) c.5259T>G (p.Phe1753Leu) c.2768T>G c.4122T>G (p.Phe1374Leu) c.3549T>G (p.Phe1183Leu) c.3495T>G (p.Phe1165Leu) c.*263T>G (n.*263T>G) c.3471T>G (p.Phe1157Leu) c.1035T>G c.3096T>G (p.Phe1032Leu) n.2011T>G n.1113T>G c.5229T>G (p.Phe1743Leu) c.5271T>G (p.Phe1757Leu) c.5250T>G (p.Phe1750Leu) c.5244T>G (p.Phe1748Leu) c.5223T>G (p.Phe1741Leu) c.4134T>G (p.Phe1378Leu) c.5232T>G (p.Phe1744Leu) n.1114T>G | |
11 | g.70473160A>G | CA475471169 | SHANK2 | c.3492T>C (p.Phe1164=) c.1037T>C (n.1037T>C) c.5259T>C (p.Phe1753=) c.2768T>C c.4122T>C (p.Phe1374=) c.3549T>C (p.Phe1183=) c.3495T>C (p.Phe1165=) c.*263T>C (n.*263T>C) c.3471T>C (p.Phe1157=) c.1035T>C c.3096T>C (p.Phe1032=) n.2011T>C n.1113T>C c.5229T>C (p.Phe1743=) c.5271T>C (p.Phe1757=) c.5250T>C (p.Phe1750=) c.5244T>C (p.Phe1748=) c.5223T>C (p.Phe1741=) c.4134T>C (p.Phe1378=) c.5232T>C (p.Phe1744=) n.1114T>C | |
11 | g.70473160A>T | CA381675891 | SHANK2 | c.3492T>A (p.Phe1164Leu) c.1037T>A (n.1037T>A) c.5259T>A (p.Phe1753Leu) c.2768T>A c.4122T>A (p.Phe1374Leu) c.3549T>A (p.Phe1183Leu) c.3495T>A (p.Phe1165Leu) c.*263T>A (n.*263T>A) c.3471T>A (p.Phe1157Leu) c.1035T>A c.3096T>A (p.Phe1032Leu) n.2011T>A n.1113T>A c.5229T>A (p.Phe1743Leu) c.5271T>A (p.Phe1757Leu) c.5250T>A (p.Phe1750Leu) c.5244T>A (p.Phe1748Leu) c.5223T>A (p.Phe1741Leu) c.4134T>A (p.Phe1378Leu) c.5232T>A (p.Phe1744Leu) n.1114T>A | |
11 | g.70473161A= | CA1981067931 | SHANK2 | c.3491T= (p.Phe1164=) c.1036T= (n.1036T=) c.5258T= (p.Phe1753=) c.2767T= c.4121T= (p.Phe1374=) c.3548T= (p.Phe1183=) c.3494T= (p.Phe1165=) c.*262T= (n.*262T=) c.3470T= (p.Phe1157=) c.1034T= c.3095T= (p.Phe1032=) n.2010T= n.1112T= c.5228T= (p.Phe1743=) c.5270T= (p.Phe1757=) c.5249T= (p.Phe1750=) c.5243T= (p.Phe1748=) c.5222T= (p.Phe1741=) c.4133T= (p.Phe1378=) c.5231T= (p.Phe1744=) n.1113T= | |
11 | g.70473161A>C | CA381675900 | SHANK2 | c.3491T>G (p.Phe1164Cys) c.1036T>G (n.1036T>G) c.5258T>G (p.Phe1753Cys) c.2767T>G c.4121T>G (p.Phe1374Cys) c.3548T>G (p.Phe1183Cys) c.3494T>G (p.Phe1165Cys) c.*262T>G (n.*262T>G) c.3470T>G (p.Phe1157Cys) c.1034T>G c.3095T>G (p.Phe1032Cys) n.2010T>G n.1112T>G c.5228T>G (p.Phe1743Cys) c.5270T>G (p.Phe1757Cys) c.5249T>G (p.Phe1750Cys) c.5243T>G (p.Phe1748Cys) c.5222T>G (p.Phe1741Cys) c.4133T>G (p.Phe1378Cys) c.5231T>G (p.Phe1744Cys) n.1113T>G | |
11 | g.70473161A>G | CA6160733 | SHANK2 | c.3491T>C (p.Phe1164Ser) c.1036T>C (n.1036T>C) c.5258T>C (p.Phe1753Ser) c.2767T>C c.4121T>C (p.Phe1374Ser) c.3548T>C (p.Phe1183Ser) c.3494T>C (p.Phe1165Ser) c.*262T>C (n.*262T>C) c.3470T>C (p.Phe1157Ser) c.1034T>C c.3095T>C (p.Phe1032Ser) n.2010T>C n.1112T>C c.5228T>C (p.Phe1743Ser) c.5270T>C (p.Phe1757Ser) c.5249T>C (p.Phe1750Ser) c.5243T>C (p.Phe1748Ser) c.5222T>C (p.Phe1741Ser) c.4133T>C (p.Phe1378Ser) c.5231T>C (p.Phe1744Ser) n.1113T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473161A>T | CA381675902 | SHANK2 | c.3491T>A (p.Phe1164Tyr) c.1036T>A (n.1036T>A) c.5258T>A (p.Phe1753Tyr) c.2767T>A c.4121T>A (p.Phe1374Tyr) c.3548T>A (p.Phe1183Tyr) c.3494T>A (p.Phe1165Tyr) c.*262T>A (n.*262T>A) c.3470T>A (p.Phe1157Tyr) c.1034T>A c.3095T>A (p.Phe1032Tyr) n.2010T>A n.1112T>A c.5228T>A (p.Phe1743Tyr) c.5270T>A (p.Phe1757Tyr) c.5249T>A (p.Phe1750Tyr) c.5243T>A (p.Phe1748Tyr) c.5222T>A (p.Phe1741Tyr) c.4133T>A (p.Phe1378Tyr) c.5231T>A (p.Phe1744Tyr) n.1113T>A | |
11 | g.70473162A>C | CA381675903 | SHANK2 | c.3490T>G (p.Phe1164Val) c.1035T>G (n.1035T>G) c.5257T>G (p.Phe1753Val) c.2766T>G c.4120T>G (p.Phe1374Val) c.3547T>G (p.Phe1183Val) c.3493T>G (p.Phe1165Val) c.*261T>G (n.*261T>G) c.3469T>G (p.Phe1157Val) c.1033T>G c.3094T>G (p.Phe1032Val) n.2009T>G n.1111T>G c.5227T>G (p.Phe1743Val) c.5269T>G (p.Phe1757Val) c.5248T>G (p.Phe1750Val) c.5242T>G (p.Phe1748Val) c.5221T>G (p.Phe1741Val) c.4132T>G (p.Phe1378Val) c.5230T>G (p.Phe1744Val) n.1112T>G | |
11 | g.70473162A>G | CA381675904 | SHANK2 | c.3490T>C (p.Phe1164Leu) c.1035T>C (n.1035T>C) c.5257T>C (p.Phe1753Leu) c.2766T>C c.4120T>C (p.Phe1374Leu) c.3547T>C (p.Phe1183Leu) c.3493T>C (p.Phe1165Leu) c.*261T>C (n.*261T>C) c.3469T>C (p.Phe1157Leu) c.1033T>C c.3094T>C (p.Phe1032Leu) n.2009T>C n.1111T>C c.5227T>C (p.Phe1743Leu) c.5269T>C (p.Phe1757Leu) c.5248T>C (p.Phe1750Leu) c.5242T>C (p.Phe1748Leu) c.5221T>C (p.Phe1741Leu) c.4132T>C (p.Phe1378Leu) c.5230T>C (p.Phe1744Leu) n.1112T>C | gnomAD v4 |
11 | g.70473162A>T | CA381675905 | SHANK2 | c.3490T>A (p.Phe1164Ile) c.1035T>A (n.1035T>A) c.5257T>A (p.Phe1753Ile) c.2766T>A c.4120T>A (p.Phe1374Ile) c.3547T>A (p.Phe1183Ile) c.3493T>A (p.Phe1165Ile) c.*261T>A (n.*261T>A) c.3469T>A (p.Phe1157Ile) c.1033T>A c.3094T>A (p.Phe1032Ile) n.2009T>A n.1111T>A c.5227T>A (p.Phe1743Ile) c.5269T>A (p.Phe1757Ile) c.5248T>A (p.Phe1750Ile) c.5242T>A (p.Phe1748Ile) c.5221T>A (p.Phe1741Ile) c.4132T>A (p.Phe1378Ile) c.5230T>A (p.Phe1744Ile) n.1112T>A | |
11 | g.70473163T>A | CA475471170 | SHANK2 | c.3489A>T (p.Leu1163=) c.1034A>T (n.1034A>T) c.5256A>T (p.Leu1752=) c.2765A>T c.4119A>T (p.Leu1373=) c.3546A>T (p.Leu1182=) c.3492A>T (p.Leu1164=) c.*260A>T (n.*260A>T) c.3468A>T (p.Leu1156=) c.1032A>T c.3093A>T (p.Leu1031=) n.2008A>T n.1110A>T c.5226A>T (p.Leu1742=) c.5268A>T (p.Leu1756=) c.5247A>T (p.Leu1749=) c.5241A>T (p.Leu1747=) c.5220A>T (p.Leu1740=) c.4131A>T (p.Leu1377=) c.5229A>T (p.Leu1743=) n.1111A>T | |
11 | g.70473163T>C | CA475471171 | SHANK2 | c.3489A>G (p.Leu1163=) c.1034A>G (n.1034A>G) c.5256A>G (p.Leu1752=) c.2765A>G c.4119A>G (p.Leu1373=) c.3546A>G (p.Leu1182=) c.3492A>G (p.Leu1164=) c.*260A>G (n.*260A>G) c.3468A>G (p.Leu1156=) c.1032A>G c.3093A>G (p.Leu1031=) n.2008A>G n.1110A>G c.5226A>G (p.Leu1742=) c.5268A>G (p.Leu1756=) c.5247A>G (p.Leu1749=) c.5241A>G (p.Leu1747=) c.5220A>G (p.Leu1740=) c.4131A>G (p.Leu1377=) c.5229A>G (p.Leu1743=) n.1111A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473163T>G | CA475471172 | SHANK2 | c.3489A>C (p.Leu1163=) c.1034A>C (n.1034A>C) c.5256A>C (p.Leu1752=) c.2765A>C c.4119A>C (p.Leu1373=) c.3546A>C (p.Leu1182=) c.3492A>C (p.Leu1164=) c.*260A>C (n.*260A>C) c.3468A>C (p.Leu1156=) c.1032A>C c.3093A>C (p.Leu1031=) n.2008A>C n.1110A>C c.5226A>C (p.Leu1742=) c.5268A>C (p.Leu1756=) c.5247A>C (p.Leu1749=) c.5241A>C (p.Leu1747=) c.5220A>C (p.Leu1740=) c.4131A>C (p.Leu1377=) c.5229A>C (p.Leu1743=) n.1111A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.70473163T= | CA1981067932 | SHANK2 | c.3489A= (p.Leu1163=) c.1034A= (n.1034A=) c.5256A= (p.Leu1752=) c.2765A= c.4119A= (p.Leu1373=) c.3546A= (p.Leu1182=) c.3492A= (p.Leu1164=) c.*260A= (n.*260A=) c.3468A= (p.Leu1156=) c.1032A= c.3093A= (p.Leu1031=) n.2008A= n.1110A= c.5226A= (p.Leu1742=) c.5268A= (p.Leu1756=) c.5247A= (p.Leu1749=) c.5241A= (p.Leu1747=) c.5220A= (p.Leu1740=) c.4131A= (p.Leu1377=) c.5229A= (p.Leu1743=) n.1111A= | |
11 | g.70473164A>C | CA381675908 | SHANK2 | c.3488T>G (p.Leu1163Arg) c.1033T>G (n.1033T>G) c.5255T>G (p.Leu1752Arg) c.2764T>G c.4118T>G (p.Leu1373Arg) c.3545T>G (p.Leu1182Arg) c.3491T>G (p.Leu1164Arg) c.*259T>G (n.*259T>G) c.3467T>G (p.Leu1156Arg) c.1031T>G c.3092T>G (p.Leu1031Arg) n.2007T>G n.1109T>G c.5225T>G (p.Leu1742Arg) c.5267T>G (p.Leu1756Arg) c.5246T>G (p.Leu1749Arg) c.5240T>G (p.Leu1747Arg) c.5219T>G (p.Leu1740Arg) c.4130T>G (p.Leu1377Arg) c.5228T>G (p.Leu1743Arg) n.1110T>G | |
11 | g.70473164A>G | CA381675910 | SHANK2 | c.3488T>C (p.Leu1163Pro) c.1033T>C (n.1033T>C) c.5255T>C (p.Leu1752Pro) c.2764T>C c.4118T>C (p.Leu1373Pro) c.3545T>C (p.Leu1182Pro) c.3491T>C (p.Leu1164Pro) c.*259T>C (n.*259T>C) c.3467T>C (p.Leu1156Pro) c.1031T>C c.3092T>C (p.Leu1031Pro) n.2007T>C n.1109T>C c.5225T>C (p.Leu1742Pro) c.5267T>C (p.Leu1756Pro) c.5246T>C (p.Leu1749Pro) c.5240T>C (p.Leu1747Pro) c.5219T>C (p.Leu1740Pro) c.4130T>C (p.Leu1377Pro) c.5228T>C (p.Leu1743Pro) n.1110T>C | |
11 | g.70473164A>T | CA381675912 | SHANK2 | c.3488T>A (p.Leu1163Gln) c.1033T>A (n.1033T>A) c.5255T>A (p.Leu1752Gln) c.2764T>A c.4118T>A (p.Leu1373Gln) c.3545T>A (p.Leu1182Gln) c.3491T>A (p.Leu1164Gln) c.*259T>A (n.*259T>A) c.3467T>A (p.Leu1156Gln) c.1031T>A c.3092T>A (p.Leu1031Gln) n.2007T>A n.1109T>A c.5225T>A (p.Leu1742Gln) c.5267T>A (p.Leu1756Gln) c.5246T>A (p.Leu1749Gln) c.5240T>A (p.Leu1747Gln) c.5219T>A (p.Leu1740Gln) c.4130T>A (p.Leu1377Gln) c.5228T>A (p.Leu1743Gln) n.1110T>A | |
11 | g.70473165G>A | CA475471173 | SHANK2 | c.3487C>T (p.Leu1163=) c.1032C>T (n.1032C>T) c.5254C>T (p.Leu1752=) c.2763C>T c.4117C>T (p.Leu1373=) c.3544C>T (p.Leu1182=) c.3490C>T (p.Leu1164=) c.*258C>T (n.*258C>T) c.3466C>T (p.Leu1156=) c.1030C>T c.3091C>T (p.Leu1031=) n.2006C>T n.1108C>T c.5224C>T (p.Leu1742=) c.5266C>T (p.Leu1756=) c.5245C>T (p.Leu1749=) c.5239C>T (p.Leu1747=) c.5218C>T (p.Leu1740=) c.4129C>T (p.Leu1377=) c.5227C>T (p.Leu1743=) n.1109C>T | |
11 | g.70473165G>C | CA381675915 | SHANK2 | c.3487C>G (p.Leu1163Val) c.1032C>G (n.1032C>G) c.5254C>G (p.Leu1752Val) c.2763C>G c.4117C>G (p.Leu1373Val) c.3544C>G (p.Leu1182Val) c.3490C>G (p.Leu1164Val) c.*258C>G (n.*258C>G) c.3466C>G (p.Leu1156Val) c.1030C>G c.3091C>G (p.Leu1031Val) n.2006C>G n.1108C>G c.5224C>G (p.Leu1742Val) c.5266C>G (p.Leu1756Val) c.5245C>G (p.Leu1749Val) c.5239C>G (p.Leu1747Val) c.5218C>G (p.Leu1740Val) c.4129C>G (p.Leu1377Val) c.5227C>G (p.Leu1743Val) n.1109C>G | |
11 | g.70473165G>T | CA381675917 | SHANK2 | c.3487C>A (p.Leu1163Ile) c.1032C>A (n.1032C>A) c.5254C>A (p.Leu1752Ile) c.2763C>A c.4117C>A (p.Leu1373Ile) c.3544C>A (p.Leu1182Ile) c.3490C>A (p.Leu1164Ile) c.*258C>A (n.*258C>A) c.3466C>A (p.Leu1156Ile) c.1030C>A c.3091C>A (p.Leu1031Ile) n.2006C>A n.1108C>A c.5224C>A (p.Leu1742Ile) c.5266C>A (p.Leu1756Ile) c.5245C>A (p.Leu1749Ile) c.5239C>A (p.Leu1747Ile) c.5218C>A (p.Leu1740Ile) c.4129C>A (p.Leu1377Ile) c.5227C>A (p.Leu1743Ile) n.1109C>A | |
11 | g.70473166A>C | CA381675919 | SHANK2 | c.3486T>G (p.Asp1162Glu) c.1031T>G (n.1031T>G) c.5253T>G (p.Asp1751Glu) c.2762T>G c.4116T>G (p.Asp1372Glu) c.3543T>G (p.Asp1181Glu) c.3489T>G (p.Asp1163Glu) c.*257T>G (n.*257T>G) c.3465T>G (p.Asp1155Glu) c.1029T>G c.3090T>G (p.Asp1030Glu) n.2005T>G n.1107T>G c.5223T>G (p.Asp1741Glu) c.5265T>G (p.Asp1755Glu) c.5244T>G (p.Asp1748Glu) c.5238T>G (p.Asp1746Glu) c.5217T>G (p.Asp1739Glu) c.4128T>G (p.Asp1376Glu) c.5226T>G (p.Asp1742Glu) n.1108T>G | |
11 | g.70473166A>G | CA475471174 | SHANK2 | c.3486T>C (p.Asp1162=) c.1031T>C (n.1031T>C) c.5253T>C (p.Asp1751=) c.2762T>C c.4116T>C (p.Asp1372=) c.3543T>C (p.Asp1181=) c.3489T>C (p.Asp1163=) c.*257T>C (n.*257T>C) c.3465T>C (p.Asp1155=) c.1029T>C c.3090T>C (p.Asp1030=) n.2005T>C n.1107T>C c.5223T>C (p.Asp1741=) c.5265T>C (p.Asp1755=) c.5244T>C (p.Asp1748=) c.5238T>C (p.Asp1746=) c.5217T>C (p.Asp1739=) c.4128T>C (p.Asp1376=) c.5226T>C (p.Asp1742=) n.1108T>C | |
11 | g.70473166A>T | CA381675921 | SHANK2 | c.3486T>A (p.Asp1162Glu) c.1031T>A (n.1031T>A) c.5253T>A (p.Asp1751Glu) c.2762T>A c.4116T>A (p.Asp1372Glu) c.3543T>A (p.Asp1181Glu) c.3489T>A (p.Asp1163Glu) c.*257T>A (n.*257T>A) c.3465T>A (p.Asp1155Glu) c.1029T>A c.3090T>A (p.Asp1030Glu) n.2005T>A n.1107T>A c.5223T>A (p.Asp1741Glu) c.5265T>A (p.Asp1755Glu) c.5244T>A (p.Asp1748Glu) c.5238T>A (p.Asp1746Glu) c.5217T>A (p.Asp1739Glu) c.4128T>A (p.Asp1376Glu) c.5226T>A (p.Asp1742Glu) n.1108T>A | |
11 | g.70473167T>A | CA381675924 | SHANK2 | c.3485A>T (p.Asp1162Val) c.1030A>T (n.1030A>T) c.5252A>T (p.Asp1751Val) c.2761A>T c.4115A>T (p.Asp1372Val) c.3542A>T (p.Asp1181Val) c.3488A>T (p.Asp1163Val) c.*256A>T (n.*256A>T) c.3464A>T (p.Asp1155Val) c.1028A>T c.3089A>T (p.Asp1030Val) n.2004A>T n.1106A>T c.5222A>T (p.Asp1741Val) c.5264A>T (p.Asp1755Val) c.5243A>T (p.Asp1748Val) c.5237A>T (p.Asp1746Val) c.5216A>T (p.Asp1739Val) c.4127A>T (p.Asp1376Val) c.5225A>T (p.Asp1742Val) n.1107A>T | gnomAD v4 |
11 | g.70473167T>C | CA381675938 | SHANK2 | c.3485A>G (p.Asp1162Gly) c.1030A>G (n.1030A>G) c.5252A>G (p.Asp1751Gly) c.2761A>G c.4115A>G (p.Asp1372Gly) c.3542A>G (p.Asp1181Gly) c.3488A>G (p.Asp1163Gly) c.*256A>G (n.*256A>G) c.3464A>G (p.Asp1155Gly) c.1028A>G c.3089A>G (p.Asp1030Gly) n.2004A>G n.1106A>G c.5222A>G (p.Asp1741Gly) c.5264A>G (p.Asp1755Gly) c.5243A>G (p.Asp1748Gly) c.5237A>G (p.Asp1746Gly) c.5216A>G (p.Asp1739Gly) c.4127A>G (p.Asp1376Gly) c.5225A>G (p.Asp1742Gly) n.1107A>G | |
11 | g.70473167T>G | CA381675929 | SHANK2 | c.3485A>C (p.Asp1162Ala) c.1030A>C (n.1030A>C) c.5252A>C (p.Asp1751Ala) c.2761A>C c.4115A>C (p.Asp1372Ala) c.3542A>C (p.Asp1181Ala) c.3488A>C (p.Asp1163Ala) c.*256A>C (n.*256A>C) c.3464A>C (p.Asp1155Ala) c.1028A>C c.3089A>C (p.Asp1030Ala) n.2004A>C n.1106A>C c.5222A>C (p.Asp1741Ala) c.5264A>C (p.Asp1755Ala) c.5243A>C (p.Asp1748Ala) c.5237A>C (p.Asp1746Ala) c.5216A>C (p.Asp1739Ala) c.4127A>C (p.Asp1376Ala) c.5225A>C (p.Asp1742Ala) n.1107A>C | |
11 | g.70473168C>A | CA381675940 | SHANK2 | c.3484G>T (p.Asp1162Tyr) c.1029G>T (n.1029G>T) c.5251G>T (p.Asp1751Tyr) c.2760G>T c.4114G>T (p.Asp1372Tyr) c.3541G>T (p.Asp1181Tyr) c.3487G>T (p.Asp1163Tyr) c.*255G>T (n.*255G>T) c.3463G>T (p.Asp1155Tyr) c.1027G>T c.3088G>T (p.Asp1030Tyr) n.2003G>T n.1105G>T c.5221G>T (p.Asp1741Tyr) c.5263G>T (p.Asp1755Tyr) c.5242G>T (p.Asp1748Tyr) c.5236G>T (p.Asp1746Tyr) c.5215G>T (p.Asp1739Tyr) c.4126G>T (p.Asp1376Tyr) c.5224G>T (p.Asp1742Tyr) n.1106G>T | |
11 | g.70473168C= | CA1981067933 | SHANK2 | c.3484G= (p.Asp1162=) c.1029G= (n.1029G=) c.5251G= (p.Asp1751=) c.2760G= c.4114G= (p.Asp1372=) c.3541G= (p.Asp1181=) c.3487G= (p.Asp1163=) c.*255G= (n.*255G=) c.3463G= (p.Asp1155=) c.1027G= c.3088G= (p.Asp1030=) n.2003G= n.1105G= c.5221G= (p.Asp1741=) c.5263G= (p.Asp1755=) c.5242G= (p.Asp1748=) c.5236G= (p.Asp1746=) c.5215G= (p.Asp1739=) c.4126G= (p.Asp1376=) c.5224G= (p.Asp1742=) n.1106G= | |
11 | g.70473168C>G | CA381675942 | SHANK2 | c.3484G>C (p.Asp1162His) c.1029G>C (n.1029G>C) c.5251G>C (p.Asp1751His) c.2760G>C c.4114G>C (p.Asp1372His) c.3541G>C (p.Asp1181His) c.3487G>C (p.Asp1163His) c.*255G>C (n.*255G>C) c.3463G>C (p.Asp1155His) c.1027G>C c.3088G>C (p.Asp1030His) n.2003G>C n.1105G>C c.5221G>C (p.Asp1741His) c.5263G>C (p.Asp1755His) c.5242G>C (p.Asp1748His) c.5236G>C (p.Asp1746His) c.5215G>C (p.Asp1739His) c.4126G>C (p.Asp1376His) c.5224G>C (p.Asp1742His) n.1106G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473168C>T | CA6160734 | SHANK2 | c.3484G>A (p.Asp1162Asn) c.1029G>A (n.1029G>A) c.5251G>A (p.Asp1751Asn) c.2760G>A c.4114G>A (p.Asp1372Asn) c.3541G>A (p.Asp1181Asn) c.3487G>A (p.Asp1163Asn) c.*255G>A (n.*255G>A) c.3463G>A (p.Asp1155Asn) c.1027G>A c.3088G>A (p.Asp1030Asn) n.2003G>A n.1105G>A c.5221G>A (p.Asp1741Asn) c.5263G>A (p.Asp1755Asn) c.5242G>A (p.Asp1748Asn) c.5236G>A (p.Asp1746Asn) c.5215G>A (p.Asp1739Asn) c.4126G>A (p.Asp1376Asn) c.5224G>A (p.Asp1742Asn) n.1106G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473169C>A | CA475471177 | SHANK2 | c.3483G>T (p.Gly1161=) c.1028G>T (n.1028G>T) c.5250G>T (p.Gly1750=) c.2759G>T c.4113G>T (p.Gly1371=) c.3540G>T (p.Gly1180=) c.3486G>T (p.Gly1162=) c.*254G>T (n.*254G>T) c.3462G>T (p.Gly1154=) c.1026G>T c.3087G>T (p.Gly1029=) n.2002G>T n.1104G>T c.5220G>T (p.Gly1740=) c.5262G>T (p.Gly1754=) c.5241G>T (p.Gly1747=) c.5235G>T (p.Gly1745=) c.5214G>T (p.Gly1738=) c.4125G>T (p.Gly1375=) c.5223G>T (p.Gly1741=) n.1105G>T | |
11 | g.70473169C= | CA1981067934 | SHANK2 | c.3483G= (p.Gly1161=) c.1028G= (n.1028G=) c.5250G= (p.Gly1750=) c.2759G= c.4113G= (p.Gly1371=) c.3540G= (p.Gly1180=) c.3486G= (p.Gly1162=) c.*254G= (n.*254G=) c.3462G= (p.Gly1154=) c.1026G= c.3087G= (p.Gly1029=) n.2002G= n.1104G= c.5220G= (p.Gly1740=) c.5262G= (p.Gly1754=) c.5241G= (p.Gly1747=) c.5235G= (p.Gly1745=) c.5214G= (p.Gly1738=) c.4125G= (p.Gly1375=) c.5223G= (p.Gly1741=) n.1105G= | |
11 | g.70473169C>G | CA475471178 | SHANK2 | c.3483G>C (p.Gly1161=) c.1028G>C (n.1028G>C) c.5250G>C (p.Gly1750=) c.2759G>C c.4113G>C (p.Gly1371=) c.3540G>C (p.Gly1180=) c.3486G>C (p.Gly1162=) c.*254G>C (n.*254G>C) c.3462G>C (p.Gly1154=) c.1026G>C c.3087G>C (p.Gly1029=) n.2002G>C n.1104G>C c.5220G>C (p.Gly1740=) c.5262G>C (p.Gly1754=) c.5241G>C (p.Gly1747=) c.5235G>C (p.Gly1745=) c.5214G>C (p.Gly1738=) c.4125G>C (p.Gly1375=) c.5223G>C (p.Gly1741=) n.1105G>C | |
11 | g.70473169C>T | CA6160735 | SHANK2 | c.3483G>A (p.Gly1161=) c.1028G>A (n.1028G>A) c.5250G>A (p.Gly1750=) c.2759G>A c.4113G>A (p.Gly1371=) c.3540G>A (p.Gly1180=) c.3486G>A (p.Gly1162=) c.*254G>A (n.*254G>A) c.3462G>A (p.Gly1154=) c.1026G>A c.3087G>A (p.Gly1029=) n.2002G>A n.1104G>A c.5220G>A (p.Gly1740=) c.5262G>A (p.Gly1754=) c.5241G>A (p.Gly1747=) c.5235G>A (p.Gly1745=) c.5214G>A (p.Gly1738=) c.4125G>A (p.Gly1375=) c.5223G>A (p.Gly1741=) n.1105G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473169_70473170insAAA | CA2792603587 | SHANK2 | c.3482_3483insTTT (p.Gly1161_Asp1162insLeu) c.1027_1028insTTT (n.1027_1028insTTT) c.5249_5250insTTT (p.Gly1750_Asp1751insLeu) c.2758_2759insTTT c.4112_4113insTTT (p.Gly1371_Asp1372insLeu) c.3539_3540insTTT (p.Gly1180_Asp1181insLeu) c.3485_3486insTTT (p.Gly1162_Asp1163insLeu) c.*253_*254insTTT (n.*253_*254insTTT) c.3461_3462insTTT (p.Gly1154_Asp1155insLeu) c.1025_1026insTTT c.3086_3087insTTT (p.Gly1029_Asp1030insLeu) n.2001_2002insTTT n.1103_1104insTTT c.5219_5220insTTT (p.Gly1740_Asp1741insLeu) c.5261_5262insTTT (p.Gly1754_Asp1755insLeu) c.5240_5241insTTT (p.Gly1747_Asp1748insLeu) c.5234_5235insTTT (p.Gly1745_Asp1746insLeu) c.5213_5214insTTT (p.Gly1738_Asp1739insLeu) c.4124_4125insTTT (p.Gly1375_Asp1376insLeu) c.5222_5223insTTT (p.Gly1741_Asp1742insLeu) n.1104_1105insTTT | |
11 | g.70473169_70473170insAACA | CA2792603586 | SHANK2 | c.3482_3483insTGTT (p.Asp1162ValfsTer13) c.1027_1028insTGTT (n.1027_1028insTGTT) c.5249_5250insTGTT (p.Asp1751ValfsTer13) c.2758_2759insTGTT c.4112_4113insTGTT (p.Asp1372ValfsTer13) c.3539_3540insTGTT (p.Asp1181ValfsTer13) c.3485_3486insTGTT (p.Asp1163ValfsTer13) c.*253_*254insTGTT (n.*253_*254insTGTT) c.3461_3462insTGTT (p.Asp1155ValfsTer13) c.1025_1026insTGTT c.3086_3087insTGTT (p.Asp1030ValfsTer13) n.2001_2002insTGTT n.1103_1104insTGTT c.5219_5220insTGTT (p.Asp1741ValfsTer13) c.5261_5262insTGTT (p.Asp1755ValfsTer13) c.5240_5241insTGTT (p.Asp1748ValfsTer13) c.5234_5235insTGTT (p.Asp1746ValfsTer13) c.5213_5214insTGTT (p.Asp1739ValfsTer13) c.4124_4125insTGTT (p.Asp1376ValfsTer13) c.5222_5223insTGTT (p.Asp1742ValfsTer13) n.1104_1105insTGTT | |
11 | g.70473170C>A | CA381675948 | SHANK2 | c.3482G>T (p.Gly1161Val) c.1027G>T (n.1027G>T) c.5249G>T (p.Gly1750Val) c.2758G>T c.4112G>T (p.Gly1371Val) c.3539G>T (p.Gly1180Val) c.3485G>T (p.Gly1162Val) c.*253G>T (n.*253G>T) c.3461G>T (p.Gly1154Val) c.1025G>T c.3086G>T (p.Gly1029Val) n.2001G>T n.1103G>T c.5219G>T (p.Gly1740Val) c.5261G>T (p.Gly1754Val) c.5240G>T (p.Gly1747Val) c.5234G>T (p.Gly1745Val) c.5213G>T (p.Gly1738Val) c.4124G>T (p.Gly1375Val) c.5222G>T (p.Gly1741Val) n.1104G>T | |
11 | g.70473170C>G | CA381675949 | SHANK2 | c.3482G>C (p.Gly1161Ala) c.1027G>C (n.1027G>C) c.5249G>C (p.Gly1750Ala) c.2758G>C c.4112G>C (p.Gly1371Ala) c.3539G>C (p.Gly1180Ala) c.3485G>C (p.Gly1162Ala) c.*253G>C (n.*253G>C) c.3461G>C (p.Gly1154Ala) c.1025G>C c.3086G>C (p.Gly1029Ala) n.2001G>C n.1103G>C c.5219G>C (p.Gly1740Ala) c.5261G>C (p.Gly1754Ala) c.5240G>C (p.Gly1747Ala) c.5234G>C (p.Gly1745Ala) c.5213G>C (p.Gly1738Ala) c.4124G>C (p.Gly1375Ala) c.5222G>C (p.Gly1741Ala) n.1104G>C | |
11 | g.70473170C>T | CA381675952 | SHANK2 | c.3482G>A (p.Gly1161Glu) c.1027G>A (n.1027G>A) c.5249G>A (p.Gly1750Glu) c.2758G>A c.4112G>A (p.Gly1371Glu) c.3539G>A (p.Gly1180Glu) c.3485G>A (p.Gly1162Glu) c.*253G>A (n.*253G>A) c.3461G>A (p.Gly1154Glu) c.1025G>A c.3086G>A (p.Gly1029Glu) n.2001G>A n.1103G>A c.5219G>A (p.Gly1740Glu) c.5261G>A (p.Gly1754Glu) c.5240G>A (p.Gly1747Glu) c.5234G>A (p.Gly1745Glu) c.5213G>A (p.Gly1738Glu) c.4124G>A (p.Gly1375Glu) c.5222G>A (p.Gly1741Glu) n.1104G>A | |
11 | g.70473170_70473171insACACCCAACA | CA2792603588 | SHANK2 | c.3481_3482insTGTTGGGTGT (p.Gly1161ValfsTer16) c.1026_1027insTGTTGGGTGT (n.1026_1027insTGTTGGGTGT) c.5248_5249insTGTTGGGTGT (p.Gly1750ValfsTer16) c.2757_2758insTGTTGGGTGT c.4111_4112insTGTTGGGTGT (p.Gly1371ValfsTer16) c.3538_3539insTGTTGGGTGT (p.Gly1180ValfsTer16) c.3484_3485insTGTTGGGTGT (p.Gly1162ValfsTer16) c.*252_*253insTGTTGGGTGT (n.*252_*253insTGTTGGGTGT) c.3460_3461insTGTTGGGTGT (p.Gly1154ValfsTer16) c.1024_1025insTGTTGGGTGT c.3085_3086insTGTTGGGTGT (p.Gly1029ValfsTer16) n.2000_2001insTGTTGGGTGT n.1102_1103insTGTTGGGTGT c.5218_5219insTGTTGGGTGT (p.Gly1740ValfsTer16) c.5260_5261insTGTTGGGTGT (p.Gly1754ValfsTer16) c.5239_5240insTGTTGGGTGT (p.Gly1747ValfsTer16) c.5233_5234insTGTTGGGTGT (p.Gly1745ValfsTer16) c.5212_5213insTGTTGGGTGT (p.Gly1738ValfsTer16) c.4123_4124insTGTTGGGTGT (p.Gly1375ValfsTer16) c.5221_5222insTGTTGGGTGT (p.Gly1741ValfsTer16) n.1103_1104insTGTTGGGTGT | |
11 | g.70473171C>A | CA381675956 | SHANK2 | c.3481G>T (p.Gly1161Trp) c.1026G>T (n.1026G>T) c.5248G>T (p.Gly1750Trp) c.2757G>T c.4111G>T (p.Gly1371Trp) c.3538G>T (p.Gly1180Trp) c.3484G>T (p.Gly1162Trp) c.*252G>T (n.*252G>T) c.3460G>T (p.Gly1154Trp) c.1024G>T c.3085G>T (p.Gly1029Trp) n.2000G>T n.1102G>T c.5218G>T (p.Gly1740Trp) c.5260G>T (p.Gly1754Trp) c.5239G>T (p.Gly1747Trp) c.5233G>T (p.Gly1745Trp) c.5212G>T (p.Gly1738Trp) c.4123G>T (p.Gly1375Trp) c.5221G>T (p.Gly1741Trp) n.1103G>T | |
11 | g.70473171C>G | CA381675957 | SHANK2 | c.3481G>C (p.Gly1161Arg) c.1026G>C (n.1026G>C) c.5248G>C (p.Gly1750Arg) c.2757G>C c.4111G>C (p.Gly1371Arg) c.3538G>C (p.Gly1180Arg) c.3484G>C (p.Gly1162Arg) c.*252G>C (n.*252G>C) c.3460G>C (p.Gly1154Arg) c.1024G>C c.3085G>C (p.Gly1029Arg) n.2000G>C n.1102G>C c.5218G>C (p.Gly1740Arg) c.5260G>C (p.Gly1754Arg) c.5239G>C (p.Gly1747Arg) c.5233G>C (p.Gly1745Arg) c.5212G>C (p.Gly1738Arg) c.4123G>C (p.Gly1375Arg) c.5221G>C (p.Gly1741Arg) n.1103G>C | |
11 | g.70473171C>T | CA381675959 | SHANK2 | c.3481G>A (p.Gly1161Arg) c.1026G>A (n.1026G>A) c.5248G>A (p.Gly1750Arg) c.2757G>A c.4111G>A (p.Gly1371Arg) c.3538G>A (p.Gly1180Arg) c.3484G>A (p.Gly1162Arg) c.*252G>A (n.*252G>A) c.3460G>A (p.Gly1154Arg) c.1024G>A c.3085G>A (p.Gly1029Arg) n.2000G>A n.1102G>A c.5218G>A (p.Gly1740Arg) c.5260G>A (p.Gly1754Arg) c.5239G>A (p.Gly1747Arg) c.5233G>A (p.Gly1745Arg) c.5212G>A (p.Gly1738Arg) c.4123G>A (p.Gly1375Arg) c.5221G>A (p.Gly1741Arg) n.1103G>A | ClinVar |
11 | g.70473172A= | CA1981067935 | SHANK2 | c.3480T= (p.Ser1160=) c.1025T= (n.1025T=) c.5247T= (p.Ser1749=) c.2756T= c.4110T= (p.Ser1370=) c.3537T= (p.Ser1179=) c.3483T= (p.Ser1161=) c.*251T= (n.*251T=) c.3459T= (p.Ser1153=) c.1023T= c.3084T= (p.Ser1028=) n.1999T= n.1101T= c.5217T= (p.Ser1739=) c.5259T= (p.Ser1753=) c.5238T= (p.Ser1746=) c.5232T= (p.Ser1744=) c.5211T= (p.Ser1737=) c.4122T= (p.Ser1374=) c.5220T= (p.Ser1740=) n.1102T= | |
11 | g.70473172A>C | CA475471181 | SHANK2 | c.3480T>G (p.Ser1160=) c.1025T>G (n.1025T>G) c.5247T>G (p.Ser1749=) c.2756T>G c.4110T>G (p.Ser1370=) c.3537T>G (p.Ser1179=) c.3483T>G (p.Ser1161=) c.*251T>G (n.*251T>G) c.3459T>G (p.Ser1153=) c.1023T>G c.3084T>G (p.Ser1028=) n.1999T>G n.1101T>G c.5217T>G (p.Ser1739=) c.5259T>G (p.Ser1753=) c.5238T>G (p.Ser1746=) c.5232T>G (p.Ser1744=) c.5211T>G (p.Ser1737=) c.4122T>G (p.Ser1374=) c.5220T>G (p.Ser1740=) n.1102T>G | dbSNP |
11 | g.70473172A>G | CA475471183 | SHANK2 | c.3480T>C (p.Ser1160=) c.1025T>C (n.1025T>C) c.5247T>C (p.Ser1749=) c.2756T>C c.4110T>C (p.Ser1370=) c.3537T>C (p.Ser1179=) c.3483T>C (p.Ser1161=) c.*251T>C (n.*251T>C) c.3459T>C (p.Ser1153=) c.1023T>C c.3084T>C (p.Ser1028=) n.1999T>C n.1101T>C c.5217T>C (p.Ser1739=) c.5259T>C (p.Ser1753=) c.5238T>C (p.Ser1746=) c.5232T>C (p.Ser1744=) c.5211T>C (p.Ser1737=) c.4122T>C (p.Ser1374=) c.5220T>C (p.Ser1740=) n.1102T>C | |
11 | g.70473172A>T | CA475471185 | SHANK2 | c.3480T>A (p.Ser1160=) c.1025T>A (n.1025T>A) c.5247T>A (p.Ser1749=) c.2756T>A c.4110T>A (p.Ser1370=) c.3537T>A (p.Ser1179=) c.3483T>A (p.Ser1161=) c.*251T>A (n.*251T>A) c.3459T>A (p.Ser1153=) c.1023T>A c.3084T>A (p.Ser1028=) n.1999T>A n.1101T>A c.5217T>A (p.Ser1739=) c.5259T>A (p.Ser1753=) c.5238T>A (p.Ser1746=) c.5232T>A (p.Ser1744=) c.5211T>A (p.Ser1737=) c.4122T>A (p.Ser1374=) c.5220T>A (p.Ser1740=) n.1102T>A | |
11 | g.70473173G>A | CA381675963 | SHANK2 | c.3479C>T (p.Ser1160Phe) c.1024C>T (n.1024C>T) c.5246C>T (p.Ser1749Phe) c.2755C>T c.4109C>T (p.Ser1370Phe) c.3536C>T (p.Ser1179Phe) c.3482C>T (p.Ser1161Phe) c.*250C>T (n.*250C>T) c.3458C>T (p.Ser1153Phe) c.1022C>T c.3083C>T (p.Ser1028Phe) n.1998C>T n.1100C>T c.5216C>T (p.Ser1739Phe) c.5258C>T (p.Ser1753Phe) c.5237C>T (p.Ser1746Phe) c.5231C>T (p.Ser1744Phe) c.5210C>T (p.Ser1737Phe) c.4121C>T (p.Ser1374Phe) c.5219C>T (p.Ser1740Phe) n.1101C>T | |
11 | g.70473173G>C | CA381675964 | SHANK2 | c.3479C>G (p.Ser1160Cys) c.1024C>G (n.1024C>G) c.5246C>G (p.Ser1749Cys) c.2755C>G c.4109C>G (p.Ser1370Cys) c.3536C>G (p.Ser1179Cys) c.3482C>G (p.Ser1161Cys) c.*250C>G (n.*250C>G) c.3458C>G (p.Ser1153Cys) c.1022C>G c.3083C>G (p.Ser1028Cys) n.1998C>G n.1100C>G c.5216C>G (p.Ser1739Cys) c.5258C>G (p.Ser1753Cys) c.5237C>G (p.Ser1746Cys) c.5231C>G (p.Ser1744Cys) c.5210C>G (p.Ser1737Cys) c.4121C>G (p.Ser1374Cys) c.5219C>G (p.Ser1740Cys) n.1101C>G | |
11 | g.70473173G>T | CA381675965 | SHANK2 | c.3479C>A (p.Ser1160Tyr) c.1024C>A (n.1024C>A) c.5246C>A (p.Ser1749Tyr) c.2755C>A c.4109C>A (p.Ser1370Tyr) c.3536C>A (p.Ser1179Tyr) c.3482C>A (p.Ser1161Tyr) c.*250C>A (n.*250C>A) c.3458C>A (p.Ser1153Tyr) c.1022C>A c.3083C>A (p.Ser1028Tyr) n.1998C>A n.1100C>A c.5216C>A (p.Ser1739Tyr) c.5258C>A (p.Ser1753Tyr) c.5237C>A (p.Ser1746Tyr) c.5231C>A (p.Ser1744Tyr) c.5210C>A (p.Ser1737Tyr) c.4121C>A (p.Ser1374Tyr) c.5219C>A (p.Ser1740Tyr) n.1101C>A | |
11 | g.70473174A>C | CA381675966 | SHANK2 | c.3478T>G (p.Ser1160Ala) c.1023T>G (n.1023T>G) c.5245T>G (p.Ser1749Ala) c.2754T>G c.4108T>G (p.Ser1370Ala) c.3535T>G (p.Ser1179Ala) c.3481T>G (p.Ser1161Ala) c.*249T>G (n.*249T>G) c.3457T>G (p.Ser1153Ala) c.1021T>G c.3082T>G (p.Ser1028Ala) n.1997T>G n.1099T>G c.5215T>G (p.Ser1739Ala) c.5257T>G (p.Ser1753Ala) c.5236T>G (p.Ser1746Ala) c.5230T>G (p.Ser1744Ala) c.5209T>G (p.Ser1737Ala) c.4120T>G (p.Ser1374Ala) c.5218T>G (p.Ser1740Ala) n.1100T>G | |
11 | g.70473174A>G | CA381675974 | SHANK2 | c.3478T>C (p.Ser1160Pro) c.1023T>C (n.1023T>C) c.5245T>C (p.Ser1749Pro) c.2754T>C c.4108T>C (p.Ser1370Pro) c.3535T>C (p.Ser1179Pro) c.3481T>C (p.Ser1161Pro) c.*249T>C (n.*249T>C) c.3457T>C (p.Ser1153Pro) c.1021T>C c.3082T>C (p.Ser1028Pro) n.1997T>C n.1099T>C c.5215T>C (p.Ser1739Pro) c.5257T>C (p.Ser1753Pro) c.5236T>C (p.Ser1746Pro) c.5230T>C (p.Ser1744Pro) c.5209T>C (p.Ser1737Pro) c.4120T>C (p.Ser1374Pro) c.5218T>C (p.Ser1740Pro) n.1100T>C | |
11 | g.70473174A>T | CA381675977 | SHANK2 | c.3478T>A (p.Ser1160Thr) c.1023T>A (n.1023T>A) c.5245T>A (p.Ser1749Thr) c.2754T>A c.4108T>A (p.Ser1370Thr) c.3535T>A (p.Ser1179Thr) c.3481T>A (p.Ser1161Thr) c.*249T>A (n.*249T>A) c.3457T>A (p.Ser1153Thr) c.1021T>A c.3082T>A (p.Ser1028Thr) n.1997T>A n.1099T>A c.5215T>A (p.Ser1739Thr) c.5257T>A (p.Ser1753Thr) c.5236T>A (p.Ser1746Thr) c.5230T>A (p.Ser1744Thr) c.5209T>A (p.Ser1737Thr) c.4120T>A (p.Ser1374Thr) c.5218T>A (p.Ser1740Thr) n.1100T>A | |
11 | g.70473175A>C | CA475471186 | SHANK2 | c.3477T>G (p.Pro1159=) c.1022T>G (n.1022T>G) c.5244T>G (p.Pro1748=) c.2753T>G c.4107T>G (p.Pro1369=) c.3534T>G (p.Pro1178=) c.3480T>G (p.Pro1160=) c.*248T>G (n.*248T>G) c.3456T>G (p.Pro1152=) c.1020T>G c.3081T>G (p.Pro1027=) n.1996T>G n.1098T>G c.5214T>G (p.Pro1738=) c.5256T>G (p.Pro1752=) c.5235T>G (p.Pro1745=) c.5229T>G (p.Pro1743=) c.5208T>G (p.Pro1736=) c.4119T>G (p.Pro1373=) c.5217T>G (p.Pro1739=) n.1099T>G | gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473175A>G | CA475471187 | SHANK2 | c.3477T>C (p.Pro1159=) c.1022T>C (n.1022T>C) c.5244T>C (p.Pro1748=) c.2753T>C c.4107T>C (p.Pro1369=) c.3534T>C (p.Pro1178=) c.3480T>C (p.Pro1160=) c.*248T>C (n.*248T>C) c.3456T>C (p.Pro1152=) c.1020T>C c.3081T>C (p.Pro1027=) n.1996T>C n.1098T>C c.5214T>C (p.Pro1738=) c.5256T>C (p.Pro1752=) c.5235T>C (p.Pro1745=) c.5229T>C (p.Pro1743=) c.5208T>C (p.Pro1736=) c.4119T>C (p.Pro1373=) c.5217T>C (p.Pro1739=) n.1099T>C | |
11 | g.70473175A>T | CA475471189 | SHANK2 | c.3477T>A (p.Pro1159=) c.1022T>A (n.1022T>A) c.5244T>A (p.Pro1748=) c.2753T>A c.4107T>A (p.Pro1369=) c.3534T>A (p.Pro1178=) c.3480T>A (p.Pro1160=) c.*248T>A (n.*248T>A) c.3456T>A (p.Pro1152=) c.1020T>A c.3081T>A (p.Pro1027=) n.1996T>A n.1098T>A c.5214T>A (p.Pro1738=) c.5256T>A (p.Pro1752=) c.5235T>A (p.Pro1745=) c.5229T>A (p.Pro1743=) c.5208T>A (p.Pro1736=) c.4119T>A (p.Pro1373=) c.5217T>A (p.Pro1739=) n.1099T>A | |
11 | g.70473176G>A | CA381675980 | SHANK2 | c.3476C>T (p.Pro1159Leu) c.1021C>T (n.1021C>T) c.5243C>T (p.Pro1748Leu) c.2752C>T c.4106C>T (p.Pro1369Leu) c.3533C>T (p.Pro1178Leu) c.3479C>T (p.Pro1160Leu) c.*247C>T (n.*247C>T) c.3455C>T (p.Pro1152Leu) c.1019C>T c.3080C>T (p.Pro1027Leu) n.1995C>T n.1097C>T c.5213C>T (p.Pro1738Leu) c.5255C>T (p.Pro1752Leu) c.5234C>T (p.Pro1745Leu) c.5228C>T (p.Pro1743Leu) c.5207C>T (p.Pro1736Leu) c.4118C>T (p.Pro1373Leu) c.5216C>T (p.Pro1739Leu) n.1098C>T | |
11 | g.70473176G>C | CA381675984 | SHANK2 | c.3476C>G (p.Pro1159Arg) c.1021C>G (n.1021C>G) c.5243C>G (p.Pro1748Arg) c.2752C>G c.4106C>G (p.Pro1369Arg) c.3533C>G (p.Pro1178Arg) c.3479C>G (p.Pro1160Arg) c.*247C>G (n.*247C>G) c.3455C>G (p.Pro1152Arg) c.1019C>G c.3080C>G (p.Pro1027Arg) n.1995C>G n.1097C>G c.5213C>G (p.Pro1738Arg) c.5255C>G (p.Pro1752Arg) c.5234C>G (p.Pro1745Arg) c.5228C>G (p.Pro1743Arg) c.5207C>G (p.Pro1736Arg) c.4118C>G (p.Pro1373Arg) c.5216C>G (p.Pro1739Arg) n.1098C>G | gnomAD v4 |
11 | g.70473176G>T | CA381675981 | SHANK2 | c.3476C>A (p.Pro1159His) c.1021C>A (n.1021C>A) c.5243C>A (p.Pro1748His) c.2752C>A c.4106C>A (p.Pro1369His) c.3533C>A (p.Pro1178His) c.3479C>A (p.Pro1160His) c.*247C>A (n.*247C>A) c.3455C>A (p.Pro1152His) c.1019C>A c.3080C>A (p.Pro1027His) n.1995C>A n.1097C>A c.5213C>A (p.Pro1738His) c.5255C>A (p.Pro1752His) c.5234C>A (p.Pro1745His) c.5228C>A (p.Pro1743His) c.5207C>A (p.Pro1736His) c.4118C>A (p.Pro1373His) c.5216C>A (p.Pro1739His) n.1098C>A | COSMIC COSMIC COSMIC |
11 | g.70473180dup | CA2792603589 | SHANK2 | c.3476dup (p.Ser1160PhefsTer14) c.1021dup (n.1021dup) c.5243dup (p.Ser1749PhefsTer14) c.2752dup c.4106dup (p.Ser1370PhefsTer14) c.3533dup (p.Ser1179PhefsTer14) c.3479dup (p.Ser1161PhefsTer14) c.*247dup (n.*247dup) c.3455dup (p.Ser1153PhefsTer14) c.1019dup c.3080dup (p.Ser1028PhefsTer14) n.1995dup n.1097dup c.5213dup (p.Ser1739PhefsTer14) c.5255dup (p.Ser1753PhefsTer14) c.5234dup (p.Ser1746PhefsTer14) c.5228dup (p.Ser1744PhefsTer14) c.5207dup (p.Ser1737PhefsTer14) c.4118dup (p.Ser1374PhefsTer14) c.5216dup (p.Ser1740PhefsTer14) n.1098dup | |
11 | g.70473177G>A | CA6160736 | SHANK2 | c.3475C>T (p.Pro1159Ser) c.1020C>T (n.1020C>T) c.5242C>T (p.Pro1748Ser) c.2751C>T c.4105C>T (p.Pro1369Ser) c.3532C>T (p.Pro1178Ser) c.3478C>T (p.Pro1160Ser) c.*246C>T (n.*246C>T) c.3454C>T (p.Pro1152Ser) c.1018C>T c.3079C>T (p.Pro1027Ser) n.1994C>T n.1096C>T c.5212C>T (p.Pro1738Ser) c.5254C>T (p.Pro1752Ser) c.5233C>T (p.Pro1745Ser) c.5227C>T (p.Pro1743Ser) c.5206C>T (p.Pro1736Ser) c.4117C>T (p.Pro1373Ser) c.5215C>T (p.Pro1739Ser) n.1097C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.70473177G>C | CA6160737 | SHANK2 | c.3475C>G (p.Pro1159Ala) c.1020C>G (n.1020C>G) c.5242C>G (p.Pro1748Ala) c.2751C>G c.4105C>G (p.Pro1369Ala) c.3532C>G (p.Pro1178Ala) c.3478C>G (p.Pro1160Ala) c.*246C>G (n.*246C>G) c.3454C>G (p.Pro1152Ala) c.1018C>G c.3079C>G (p.Pro1027Ala) n.1994C>G n.1096C>G c.5212C>G (p.Pro1738Ala) c.5254C>G (p.Pro1752Ala) c.5233C>G (p.Pro1745Ala) c.5227C>G (p.Pro1743Ala) c.5206C>G (p.Pro1736Ala) c.4117C>G (p.Pro1373Ala) c.5215C>G (p.Pro1739Ala) n.1097C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473177G= | CA1981067936 | SHANK2 | c.3475C= (p.Pro1159=) c.1020C= (n.1020C=) c.5242C= (p.Pro1748=) c.2751C= c.4105C= (p.Pro1369=) c.3532C= (p.Pro1178=) c.3478C= (p.Pro1160=) c.*246C= (n.*246C=) c.3454C= (p.Pro1152=) c.1018C= c.3079C= (p.Pro1027=) n.1994C= n.1096C= c.5212C= (p.Pro1738=) c.5254C= (p.Pro1752=) c.5233C= (p.Pro1745=) c.5227C= (p.Pro1743=) c.5206C= (p.Pro1736=) c.4117C= (p.Pro1373=) c.5215C= (p.Pro1739=) n.1097C= | |
11 | g.70473177G>T | CA381675990 | SHANK2 | c.3475C>A (p.Pro1159Thr) c.1020C>A (n.1020C>A) c.5242C>A (p.Pro1748Thr) c.2751C>A c.4105C>A (p.Pro1369Thr) c.3532C>A (p.Pro1178Thr) c.3478C>A (p.Pro1160Thr) c.*246C>A (n.*246C>A) c.3454C>A (p.Pro1152Thr) c.1018C>A c.3079C>A (p.Pro1027Thr) n.1994C>A n.1096C>A c.5212C>A (p.Pro1738Thr) c.5254C>A (p.Pro1752Thr) c.5233C>A (p.Pro1745Thr) c.5227C>A (p.Pro1743Thr) c.5206C>A (p.Pro1736Thr) c.4117C>A (p.Pro1373Thr) c.5215C>A (p.Pro1739Thr) n.1097C>A | |
11 | g.70473178G>A | CA6160739 | SHANK2 | c.3474C>T (p.Pro1158=) c.1019C>T (n.1019C>T) c.5241C>T (p.Pro1747=) c.2750C>T c.4104C>T (p.Pro1368=) c.3531C>T (p.Pro1177=) c.3477C>T (p.Pro1159=) c.*245C>T (n.*245C>T) c.3453C>T (p.Pro1151=) c.1017C>T c.3078C>T (p.Pro1026=) n.1993C>T n.1095C>T c.5211C>T (p.Pro1737=) c.5253C>T (p.Pro1751=) c.5232C>T (p.Pro1744=) c.5226C>T (p.Pro1742=) c.5205C>T (p.Pro1735=) c.4116C>T (p.Pro1372=) c.5214C>T (p.Pro1738=) n.1096C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473178G>C | CA6160738 | SHANK2 | c.3474C>G (p.Pro1158=) c.1019C>G (n.1019C>G) c.5241C>G (p.Pro1747=) c.2750C>G c.4104C>G (p.Pro1368=) c.3531C>G (p.Pro1177=) c.3477C>G (p.Pro1159=) c.*245C>G (n.*245C>G) c.3453C>G (p.Pro1151=) c.1017C>G c.3078C>G (p.Pro1026=) n.1993C>G n.1095C>G c.5211C>G (p.Pro1737=) c.5253C>G (p.Pro1751=) c.5232C>G (p.Pro1744=) c.5226C>G (p.Pro1742=) c.5205C>G (p.Pro1735=) c.4116C>G (p.Pro1372=) c.5214C>G (p.Pro1738=) n.1096C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473178G= | CA1981067937 | SHANK2 | c.3474C= (p.Pro1158=) c.1019C= (n.1019C=) c.5241C= (p.Pro1747=) c.2750C= c.4104C= (p.Pro1368=) c.3531C= (p.Pro1177=) c.3477C= (p.Pro1159=) c.*245C= (n.*245C=) c.3453C= (p.Pro1151=) c.1017C= c.3078C= (p.Pro1026=) n.1993C= n.1095C= c.5211C= (p.Pro1737=) c.5253C= (p.Pro1751=) c.5232C= (p.Pro1744=) c.5226C= (p.Pro1742=) c.5205C= (p.Pro1735=) c.4116C= (p.Pro1372=) c.5214C= (p.Pro1738=) n.1096C= | |
11 | g.70473178G>T | CA475471193 | SHANK2 | c.3474C>A (p.Pro1158=) c.1019C>A (n.1019C>A) c.5241C>A (p.Pro1747=) c.2750C>A c.4104C>A (p.Pro1368=) c.3531C>A (p.Pro1177=) c.3477C>A (p.Pro1159=) c.*245C>A (n.*245C>A) c.3453C>A (p.Pro1151=) c.1017C>A c.3078C>A (p.Pro1026=) n.1993C>A n.1095C>A c.5211C>A (p.Pro1737=) c.5253C>A (p.Pro1751=) c.5232C>A (p.Pro1744=) c.5226C>A (p.Pro1742=) c.5205C>A (p.Pro1735=) c.4116C>A (p.Pro1372=) c.5214C>A (p.Pro1738=) n.1096C>A | |
11 | g.70473179G>A | CA381675991 | SHANK2 | c.3473C>T (p.Pro1158Leu) c.1018C>T (n.1018C>T) c.5240C>T (p.Pro1747Leu) c.2749C>T c.4103C>T (p.Pro1368Leu) c.3530C>T (p.Pro1177Leu) c.3476C>T (p.Pro1159Leu) c.*244C>T (n.*244C>T) c.3452C>T (p.Pro1151Leu) c.1016C>T c.3077C>T (p.Pro1026Leu) n.1992C>T n.1094C>T c.5210C>T (p.Pro1737Leu) c.5252C>T (p.Pro1751Leu) c.5231C>T (p.Pro1744Leu) c.5225C>T (p.Pro1742Leu) c.5204C>T (p.Pro1735Leu) c.4115C>T (p.Pro1372Leu) c.5213C>T (p.Pro1738Leu) n.1095C>T | |
11 | g.70473179G>C | CA381675993 | SHANK2 | c.3473C>G (p.Pro1158Arg) c.1018C>G (n.1018C>G) c.5240C>G (p.Pro1747Arg) c.2749C>G c.4103C>G (p.Pro1368Arg) c.3530C>G (p.Pro1177Arg) c.3476C>G (p.Pro1159Arg) c.*244C>G (n.*244C>G) c.3452C>G (p.Pro1151Arg) c.1016C>G c.3077C>G (p.Pro1026Arg) n.1992C>G n.1094C>G c.5210C>G (p.Pro1737Arg) c.5252C>G (p.Pro1751Arg) c.5231C>G (p.Pro1744Arg) c.5225C>G (p.Pro1742Arg) c.5204C>G (p.Pro1735Arg) c.4115C>G (p.Pro1372Arg) c.5213C>G (p.Pro1738Arg) n.1095C>G | |
11 | g.70473179G>T | CA381675997 | SHANK2 | c.3473C>A (p.Pro1158His) c.1018C>A (n.1018C>A) c.5240C>A (p.Pro1747His) c.2749C>A c.4103C>A (p.Pro1368His) c.3530C>A (p.Pro1177His) c.3476C>A (p.Pro1159His) c.*244C>A (n.*244C>A) c.3452C>A (p.Pro1151His) c.1016C>A c.3077C>A (p.Pro1026His) n.1992C>A n.1094C>A c.5210C>A (p.Pro1737His) c.5252C>A (p.Pro1751His) c.5231C>A (p.Pro1744His) c.5225C>A (p.Pro1742His) c.5204C>A (p.Pro1735His) c.4115C>A (p.Pro1372His) c.5213C>A (p.Pro1738His) n.1095C>A | |
11 | g.70473180G>A | CA381676002 | SHANK2 | c.3472C>T (p.Pro1158Ser) c.1017C>T (n.1017C>T) c.5239C>T (p.Pro1747Ser) c.2748C>T c.4102C>T (p.Pro1368Ser) c.3529C>T (p.Pro1177Ser) c.3475C>T (p.Pro1159Ser) c.*243C>T (n.*243C>T) c.3451C>T (p.Pro1151Ser) c.1015C>T c.3076C>T (p.Pro1026Ser) n.1991C>T n.1093C>T c.5209C>T (p.Pro1737Ser) c.5251C>T (p.Pro1751Ser) c.5230C>T (p.Pro1744Ser) c.5224C>T (p.Pro1742Ser) c.5203C>T (p.Pro1735Ser) c.4114C>T (p.Pro1372Ser) c.5212C>T (p.Pro1738Ser) n.1094C>T | dbSNP gnomAD v4 |
11 | g.70473180G>C | CA381676003 | SHANK2 | c.3472C>G (p.Pro1158Ala) c.1017C>G (n.1017C>G) c.5239C>G (p.Pro1747Ala) c.2748C>G c.4102C>G (p.Pro1368Ala) c.3529C>G (p.Pro1177Ala) c.3475C>G (p.Pro1159Ala) c.*243C>G (n.*243C>G) c.3451C>G (p.Pro1151Ala) c.1015C>G c.3076C>G (p.Pro1026Ala) n.1991C>G n.1093C>G c.5209C>G (p.Pro1737Ala) c.5251C>G (p.Pro1751Ala) c.5230C>G (p.Pro1744Ala) c.5224C>G (p.Pro1742Ala) c.5203C>G (p.Pro1735Ala) c.4114C>G (p.Pro1372Ala) c.5212C>G (p.Pro1738Ala) n.1094C>G | |
11 | g.70473180G= | CA1981067938 | SHANK2 | c.3472C= (p.Pro1158=) c.1017C= (n.1017C=) c.5239C= (p.Pro1747=) c.2748C= c.4102C= (p.Pro1368=) c.3529C= (p.Pro1177=) c.3475C= (p.Pro1159=) c.*243C= (n.*243C=) c.3451C= (p.Pro1151=) c.1015C= c.3076C= (p.Pro1026=) n.1991C= n.1093C= c.5209C= (p.Pro1737=) c.5251C= (p.Pro1751=) c.5230C= (p.Pro1744=) c.5224C= (p.Pro1742=) c.5203C= (p.Pro1735=) c.4114C= (p.Pro1372=) c.5212C= (p.Pro1738=) n.1094C= | |
11 | g.70473180G>T | CA381676004 | SHANK2 | c.3472C>A (p.Pro1158Thr) c.1017C>A (n.1017C>A) c.5239C>A (p.Pro1747Thr) c.2748C>A c.4102C>A (p.Pro1368Thr) c.3529C>A (p.Pro1177Thr) c.3475C>A (p.Pro1159Thr) c.*243C>A (n.*243C>A) c.3451C>A (p.Pro1151Thr) c.1015C>A c.3076C>A (p.Pro1026Thr) n.1991C>A n.1093C>A c.5209C>A (p.Pro1737Thr) c.5251C>A (p.Pro1751Thr) c.5230C>A (p.Pro1744Thr) c.5224C>A (p.Pro1742Thr) c.5203C>A (p.Pro1735Thr) c.4114C>A (p.Pro1372Thr) c.5212C>A (p.Pro1738Thr) n.1094C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473181C>A | CA381676005 | SHANK2 | c.3471G>T (p.Gln1157His) c.1016G>T (n.1016G>T) c.5238G>T (p.Gln1746His) c.2747G>T c.4101G>T (p.Gln1367His) c.3528G>T (p.Gln1176His) c.3474G>T (p.Gln1158His) c.*242G>T (n.*242G>T) c.3450G>T (p.Gln1150His) c.1014G>T c.3075G>T (p.Gln1025His) n.1990G>T n.1092G>T c.5208G>T (p.Gln1736His) c.5250G>T (p.Gln1750His) c.5229G>T (p.Gln1743His) c.5223G>T (p.Gln1741His) c.5202G>T (p.Gln1734His) c.4113G>T (p.Gln1371His) c.5211G>T (p.Gln1737His) n.1093G>T | |
11 | g.70473181C= | CA1981067939 | SHANK2 | c.3471G= (p.Gln1157=) c.1016G= (n.1016G=) c.5238G= (p.Gln1746=) c.2747G= c.4101G= (p.Gln1367=) c.3528G= (p.Gln1176=) c.3474G= (p.Gln1158=) c.*242G= (n.*242G=) c.3450G= (p.Gln1150=) c.1014G= c.3075G= (p.Gln1025=) n.1990G= n.1092G= c.5208G= (p.Gln1736=) c.5250G= (p.Gln1750=) c.5229G= (p.Gln1743=) c.5223G= (p.Gln1741=) c.5202G= (p.Gln1734=) c.4113G= (p.Gln1371=) c.5211G= (p.Gln1737=) n.1093G= | |
11 | g.70473181C>G | CA381676006 | SHANK2 | c.3471G>C (p.Gln1157His) c.1016G>C (n.1016G>C) c.5238G>C (p.Gln1746His) c.2747G>C c.4101G>C (p.Gln1367His) c.3528G>C (p.Gln1176His) c.3474G>C (p.Gln1158His) c.*242G>C (n.*242G>C) c.3450G>C (p.Gln1150His) c.1014G>C c.3075G>C (p.Gln1025His) n.1990G>C n.1092G>C c.5208G>C (p.Gln1736His) c.5250G>C (p.Gln1750His) c.5229G>C (p.Gln1743His) c.5223G>C (p.Gln1741His) c.5202G>C (p.Gln1734His) c.4113G>C (p.Gln1371His) c.5211G>C (p.Gln1737His) n.1093G>C | |
11 | g.70473181C>T | CA475471197 | SHANK2 | c.3471G>A (p.Gln1157=) c.1016G>A (n.1016G>A) c.5238G>A (p.Gln1746=) c.2747G>A c.4101G>A (p.Gln1367=) c.3528G>A (p.Gln1176=) c.3474G>A (p.Gln1158=) c.*242G>A (n.*242G>A) c.3450G>A (p.Gln1150=) c.1014G>A c.3075G>A (p.Gln1025=) n.1990G>A n.1092G>A c.5208G>A (p.Gln1736=) c.5250G>A (p.Gln1750=) c.5229G>A (p.Gln1743=) c.5223G>A (p.Gln1741=) c.5202G>A (p.Gln1734=) c.4113G>A (p.Gln1371=) c.5211G>A (p.Gln1737=) n.1093G>A | dbSNP |
11 | g.70473182T>A | CA381676009 | SHANK2 | c.3470A>T (p.Gln1157Leu) c.1015A>T (n.1015A>T) c.5237A>T (p.Gln1746Leu) c.2746A>T c.4100A>T (p.Gln1367Leu) c.3527A>T (p.Gln1176Leu) c.3473A>T (p.Gln1158Leu) c.*241A>T (n.*241A>T) c.3449A>T (p.Gln1150Leu) c.1013A>T c.3074A>T (p.Gln1025Leu) n.1989A>T n.1091A>T c.5207A>T (p.Gln1736Leu) c.5249A>T (p.Gln1750Leu) c.5228A>T (p.Gln1743Leu) c.5222A>T (p.Gln1741Leu) c.5201A>T (p.Gln1734Leu) c.4112A>T (p.Gln1371Leu) c.5210A>T (p.Gln1737Leu) n.1092A>T | |
11 | g.70473182T>C | CA6160740 | SHANK2 | c.3470A>G (p.Gln1157Arg) c.1015A>G (n.1015A>G) c.5237A>G (p.Gln1746Arg) c.2746A>G c.4100A>G (p.Gln1367Arg) c.3527A>G (p.Gln1176Arg) c.3473A>G (p.Gln1158Arg) c.*241A>G (n.*241A>G) c.3449A>G (p.Gln1150Arg) c.1013A>G c.3074A>G (p.Gln1025Arg) n.1989A>G n.1091A>G c.5207A>G (p.Gln1736Arg) c.5249A>G (p.Gln1750Arg) c.5228A>G (p.Gln1743Arg) c.5222A>G (p.Gln1741Arg) c.5201A>G (p.Gln1734Arg) c.4112A>G (p.Gln1371Arg) c.5210A>G (p.Gln1737Arg) n.1092A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473182T>G | CA381676012 | SHANK2 | c.3470A>C (p.Gln1157Pro) c.1015A>C (n.1015A>C) c.5237A>C (p.Gln1746Pro) c.2746A>C c.4100A>C (p.Gln1367Pro) c.3527A>C (p.Gln1176Pro) c.3473A>C (p.Gln1158Pro) c.*241A>C (n.*241A>C) c.3449A>C (p.Gln1150Pro) c.1013A>C c.3074A>C (p.Gln1025Pro) n.1989A>C n.1091A>C c.5207A>C (p.Gln1736Pro) c.5249A>C (p.Gln1750Pro) c.5228A>C (p.Gln1743Pro) c.5222A>C (p.Gln1741Pro) c.5201A>C (p.Gln1734Pro) c.4112A>C (p.Gln1371Pro) c.5210A>C (p.Gln1737Pro) n.1092A>C | |
11 | g.70473182T= | CA1981067940 | SHANK2 | c.3470A= (p.Gln1157=) c.1015A= (n.1015A=) c.5237A= (p.Gln1746=) c.2746A= c.4100A= (p.Gln1367=) c.3527A= (p.Gln1176=) c.3473A= (p.Gln1158=) c.*241A= (n.*241A=) c.3449A= (p.Gln1150=) c.1013A= c.3074A= (p.Gln1025=) n.1989A= n.1091A= c.5207A= (p.Gln1736=) c.5249A= (p.Gln1750=) c.5228A= (p.Gln1743=) c.5222A= (p.Gln1741=) c.5201A= (p.Gln1734=) c.4112A= (p.Gln1371=) c.5210A= (p.Gln1737=) n.1092A= | |
11 | g.70473183G>A | CA381676014 | SHANK2 | c.3469C>T (p.Gln1157Ter) c.1014C>T (n.1014C>T) c.5236C>T (p.Gln1746Ter) c.2745C>T c.4099C>T (p.Gln1367Ter) c.3526C>T (p.Gln1176Ter) c.3472C>T (p.Gln1158Ter) c.*240C>T (n.*240C>T) c.3448C>T (p.Gln1150Ter) c.1012C>T c.3073C>T (p.Gln1025Ter) n.1988C>T n.1090C>T c.5206C>T (p.Gln1736Ter) c.5248C>T (p.Gln1750Ter) c.5227C>T (p.Gln1743Ter) c.5221C>T (p.Gln1741Ter) c.5200C>T (p.Gln1734Ter) c.4111C>T (p.Gln1371Ter) c.5209C>T (p.Gln1737Ter) n.1091C>T | |
11 | g.70473183G>C | CA381676015 | SHANK2 | c.3469C>G (p.Gln1157Glu) c.1014C>G (n.1014C>G) c.5236C>G (p.Gln1746Glu) c.2745C>G c.4099C>G (p.Gln1367Glu) c.3526C>G (p.Gln1176Glu) c.3472C>G (p.Gln1158Glu) c.*240C>G (n.*240C>G) c.3448C>G (p.Gln1150Glu) c.1012C>G c.3073C>G (p.Gln1025Glu) n.1988C>G n.1090C>G c.5206C>G (p.Gln1736Glu) c.5248C>G (p.Gln1750Glu) c.5227C>G (p.Gln1743Glu) c.5221C>G (p.Gln1741Glu) c.5200C>G (p.Gln1734Glu) c.4111C>G (p.Gln1371Glu) c.5209C>G (p.Gln1737Glu) n.1091C>G | |
11 | g.70473183G>T | CA381676017 | SHANK2 | c.3469C>A (p.Gln1157Lys) c.1014C>A (n.1014C>A) c.5236C>A (p.Gln1746Lys) c.2745C>A c.4099C>A (p.Gln1367Lys) c.3526C>A (p.Gln1176Lys) c.3472C>A (p.Gln1158Lys) c.*240C>A (n.*240C>A) c.3448C>A (p.Gln1150Lys) c.1012C>A c.3073C>A (p.Gln1025Lys) n.1988C>A n.1090C>A c.5206C>A (p.Gln1736Lys) c.5248C>A (p.Gln1750Lys) c.5227C>A (p.Gln1743Lys) c.5221C>A (p.Gln1741Lys) c.5200C>A (p.Gln1734Lys) c.4111C>A (p.Gln1371Lys) c.5209C>A (p.Gln1737Lys) n.1091C>A | |
11 | g.70473184G>A | CA475471198 | SHANK2 | c.3468C>T (p.Ser1156=) c.1013C>T (n.1013C>T) c.5235C>T (p.Ser1745=) c.2744C>T c.4098C>T (p.Ser1366=) c.3525C>T (p.Ser1175=) c.3471C>T (p.Ser1157=) c.*239C>T (n.*239C>T) c.3447C>T (p.Ser1149=) c.1011C>T c.3072C>T (p.Ser1024=) n.1987C>T n.1089C>T c.5205C>T (p.Ser1735=) c.5247C>T (p.Ser1749=) c.5226C>T (p.Ser1742=) c.5220C>T (p.Ser1740=) c.5199C>T (p.Ser1733=) c.4110C>T (p.Ser1370=) c.5208C>T (p.Ser1736=) n.1090C>T | |
11 | g.70473184G>C | CA381676023 | SHANK2 | c.3468C>G (p.Ser1156Arg) c.1013C>G (n.1013C>G) c.5235C>G (p.Ser1745Arg) c.2744C>G c.4098C>G (p.Ser1366Arg) c.3525C>G (p.Ser1175Arg) c.3471C>G (p.Ser1157Arg) c.*239C>G (n.*239C>G) c.3447C>G (p.Ser1149Arg) c.1011C>G c.3072C>G (p.Ser1024Arg) n.1987C>G n.1089C>G c.5205C>G (p.Ser1735Arg) c.5247C>G (p.Ser1749Arg) c.5226C>G (p.Ser1742Arg) c.5220C>G (p.Ser1740Arg) c.5199C>G (p.Ser1733Arg) c.4110C>G (p.Ser1370Arg) c.5208C>G (p.Ser1736Arg) n.1090C>G | |
11 | g.70473184G>T | CA381676019 | SHANK2 | c.3468C>A (p.Ser1156Arg) c.1013C>A (n.1013C>A) c.5235C>A (p.Ser1745Arg) c.2744C>A c.4098C>A (p.Ser1366Arg) c.3525C>A (p.Ser1175Arg) c.3471C>A (p.Ser1157Arg) c.*239C>A (n.*239C>A) c.3447C>A (p.Ser1149Arg) c.1011C>A c.3072C>A (p.Ser1024Arg) n.1987C>A n.1089C>A c.5205C>A (p.Ser1735Arg) c.5247C>A (p.Ser1749Arg) c.5226C>A (p.Ser1742Arg) c.5220C>A (p.Ser1740Arg) c.5199C>A (p.Ser1733Arg) c.4110C>A (p.Ser1370Arg) c.5208C>A (p.Ser1736Arg) n.1090C>A | |
11 | g.70473185C>A | CA381676025 | SHANK2 | c.3467G>T (p.Ser1156Ile) c.1012G>T (n.1012G>T) c.5234G>T (p.Ser1745Ile) c.2743G>T c.4097G>T (p.Ser1366Ile) c.3524G>T (p.Ser1175Ile) c.3470G>T (p.Ser1157Ile) c.*238G>T (n.*238G>T) c.3446G>T (p.Ser1149Ile) c.1010G>T c.3071G>T (p.Ser1024Ile) n.1986G>T n.1088G>T c.5204G>T (p.Ser1735Ile) c.5246G>T (p.Ser1749Ile) c.5225G>T (p.Ser1742Ile) c.5219G>T (p.Ser1740Ile) c.5198G>T (p.Ser1733Ile) c.4109G>T (p.Ser1370Ile) c.5207G>T (p.Ser1736Ile) n.1089G>T | |
11 | g.70473185C>G | CA381676028 | SHANK2 | c.3467G>C (p.Ser1156Thr) c.1012G>C (n.1012G>C) c.5234G>C (p.Ser1745Thr) c.2743G>C c.4097G>C (p.Ser1366Thr) c.3524G>C (p.Ser1175Thr) c.3470G>C (p.Ser1157Thr) c.*238G>C (n.*238G>C) c.3446G>C (p.Ser1149Thr) c.1010G>C c.3071G>C (p.Ser1024Thr) n.1986G>C n.1088G>C c.5204G>C (p.Ser1735Thr) c.5246G>C (p.Ser1749Thr) c.5225G>C (p.Ser1742Thr) c.5219G>C (p.Ser1740Thr) c.5198G>C (p.Ser1733Thr) c.4109G>C (p.Ser1370Thr) c.5207G>C (p.Ser1736Thr) n.1089G>C | |
11 | g.70473185C>T | CA381676029 | SHANK2 | c.3467G>A (p.Ser1156Asn) c.1012G>A (n.1012G>A) c.5234G>A (p.Ser1745Asn) c.2743G>A c.4097G>A (p.Ser1366Asn) c.3524G>A (p.Ser1175Asn) c.3470G>A (p.Ser1157Asn) c.*238G>A (n.*238G>A) c.3446G>A (p.Ser1149Asn) c.1010G>A c.3071G>A (p.Ser1024Asn) n.1986G>A n.1088G>A c.5204G>A (p.Ser1735Asn) c.5246G>A (p.Ser1749Asn) c.5225G>A (p.Ser1742Asn) c.5219G>A (p.Ser1740Asn) c.5198G>A (p.Ser1733Asn) c.4109G>A (p.Ser1370Asn) c.5207G>A (p.Ser1736Asn) n.1089G>A | |
11 | g.70473186T>A | CA381676031 | SHANK2 | c.3466A>T (p.Ser1156Cys) c.1011A>T (n.1011A>T) c.5233A>T (p.Ser1745Cys) c.2742A>T c.4096A>T (p.Ser1366Cys) c.3523A>T (p.Ser1175Cys) c.3469A>T (p.Ser1157Cys) c.*237A>T (n.*237A>T) c.3445A>T (p.Ser1149Cys) c.1009A>T c.3070A>T (p.Ser1024Cys) n.1985A>T n.1087A>T c.5203A>T (p.Ser1735Cys) c.5245A>T (p.Ser1749Cys) c.5224A>T (p.Ser1742Cys) c.5218A>T (p.Ser1740Cys) c.5197A>T (p.Ser1733Cys) c.4108A>T (p.Ser1370Cys) c.5206A>T (p.Ser1736Cys) n.1088A>T | |
11 | g.70473186T>C | CA381676032 | SHANK2 | c.3466A>G (p.Ser1156Gly) c.1011A>G (n.1011A>G) c.5233A>G (p.Ser1745Gly) c.2742A>G c.4096A>G (p.Ser1366Gly) c.3523A>G (p.Ser1175Gly) c.3469A>G (p.Ser1157Gly) c.*237A>G (n.*237A>G) c.3445A>G (p.Ser1149Gly) c.1009A>G c.3070A>G (p.Ser1024Gly) n.1985A>G n.1087A>G c.5203A>G (p.Ser1735Gly) c.5245A>G (p.Ser1749Gly) c.5224A>G (p.Ser1742Gly) c.5218A>G (p.Ser1740Gly) c.5197A>G (p.Ser1733Gly) c.4108A>G (p.Ser1370Gly) c.5206A>G (p.Ser1736Gly) n.1088A>G | |
11 | g.70473186T>G | CA381676034 | SHANK2 | c.3466A>C (p.Ser1156Arg) c.1011A>C (n.1011A>C) c.5233A>C (p.Ser1745Arg) c.2742A>C c.4096A>C (p.Ser1366Arg) c.3523A>C (p.Ser1175Arg) c.3469A>C (p.Ser1157Arg) c.*237A>C (n.*237A>C) c.3445A>C (p.Ser1149Arg) c.1009A>C c.3070A>C (p.Ser1024Arg) n.1985A>C n.1087A>C c.5203A>C (p.Ser1735Arg) c.5245A>C (p.Ser1749Arg) c.5224A>C (p.Ser1742Arg) c.5218A>C (p.Ser1740Arg) c.5197A>C (p.Ser1733Arg) c.4108A>C (p.Ser1370Arg) c.5206A>C (p.Ser1736Arg) n.1088A>C | gnomAD v4 |