UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720997del | CA2580615344 | SHANK3 | c.2765del (p.Glu922GlyfsTer23) n.3349del c.1817del (p.Glu606GlyfsTer23) c.1307del (p.Glu436GlyfsTer23) c.*1763del (n.*1763del) c.3161del (p.Glu1054GlyfsTer23) c.3143del (p.Glu1048GlyfsTer23) | ClinVar |
| 22 | g.50720997A>C | CA515260881 | SHANK3 | c.2765A>C (p.Glu922Ala) n.3349A>C c.1817A>C (p.Glu606Ala) c.1307A>C (p.Glu436Ala) c.*1763A>C (n.*1763A>C) c.3161A>C (p.Glu1054Ala) c.3143A>C (p.Glu1048Ala) | |
| 22 | g.50720997A>G | CA515260882 | SHANK3 | c.2765A>G (p.Glu922Gly) n.3349A>G c.1817A>G (p.Glu606Gly) c.1307A>G (p.Glu436Gly) c.*1763A>G (n.*1763A>G) c.3161A>G (p.Glu1054Gly) c.3143A>G (p.Glu1048Gly) | |
| 22 | g.50720997A>T | CA515260883 | SHANK3 | c.2765A>T (p.Glu922Val) n.3349A>T c.1817A>T (p.Glu606Val) c.1307A>T (p.Glu436Val) c.*1763A>T (n.*1763A>T) c.3161A>T (p.Glu1054Val) c.3143A>T (p.Glu1048Val) | |
| 22 | g.50720998G>A | CA515260884 | SHANK3 | c.2766G>A (p.Glu922=) n.3350G>A c.1818G>A (p.Glu606=) c.1308G>A (p.Glu436=) c.*1764G>A (n.*1764G>A) c.3162G>A (p.Glu1054=) c.3144G>A (p.Glu1048=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720998G>C | CA325578545 | SHANK3 | c.2766G>C (p.Glu922Asp) n.3350G>C c.1818G>C (p.Glu606Asp) c.1308G>C (p.Glu436Asp) c.*1764G>C (n.*1764G>C) c.3162G>C (p.Glu1054Asp) c.3144G>C (p.Glu1048Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720998G= | CA2411007963 | SHANK3 | c.2766G= (p.Glu922=) n.3350G= c.1818G= (p.Glu606=) c.1308G= (p.Glu436=) c.*1764G= (n.*1764G=) c.3162G= (p.Glu1054=) c.3144G= (p.Glu1048=) | |
| 22 | g.50720998G>T | CA515260885 | SHANK3 | c.2766G>T (p.Glu922Asp) n.3350G>T c.1818G>T (p.Glu606Asp) c.1308G>T (p.Glu436Asp) c.*1764G>T (n.*1764G>T) c.3162G>T (p.Glu1054Asp) c.3144G>T (p.Glu1048Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720999C>A | CA515260886 | SHANK3 | c.2767C>A (p.Arg923Ser) n.3351C>A c.1819C>A (p.Arg607Ser) c.1309C>A (p.Arg437Ser) c.*1765C>A (n.*1765C>A) c.3163C>A (p.Arg1055Ser) c.3145C>A (p.Arg1049Ser) | gnomAD v4 |
| 22 | g.50720999C>G | CA515260887 | SHANK3 | c.2767C>G (p.Arg923Gly) n.3351C>G c.1819C>G (p.Arg607Gly) c.1309C>G (p.Arg437Gly) c.*1765C>G (n.*1765C>G) c.3163C>G (p.Arg1055Gly) c.3145C>G (p.Arg1049Gly) | |
| 22 | g.50720999C>T | CA515260888 | SHANK3 | c.2767C>T (p.Arg923Cys) n.3351C>T c.1819C>T (p.Arg607Cys) c.1309C>T (p.Arg437Cys) c.*1765C>T (n.*1765C>T) c.3163C>T (p.Arg1055Cys) c.3145C>T (p.Arg1049Cys) | gnomAD v4 |
| 22 | g.50721000G>A | CA515260889 | SHANK3 | c.2768G>A (p.Arg923His) n.3352G>A c.1820G>A (p.Arg607His) c.1310G>A (p.Arg437His) c.*1766G>A (n.*1766G>A) c.3164G>A (p.Arg1055His) c.3146G>A (p.Arg1049His) | gnomAD v4 |
| 22 | g.50721000G>C | CA515260890 | SHANK3 | c.2768G>C (p.Arg923Pro) n.3352G>C c.1820G>C (p.Arg607Pro) c.1310G>C (p.Arg437Pro) c.*1766G>C (n.*1766G>C) c.3164G>C (p.Arg1055Pro) c.3146G>C (p.Arg1049Pro) | |
| 22 | g.50721000G>T | CA515260891 | SHANK3 | c.2768G>T (p.Arg923Leu) n.3352G>T c.1820G>T (p.Arg607Leu) c.1310G>T (p.Arg437Leu) c.*1766G>T (n.*1766G>T) c.3164G>T (p.Arg1055Leu) c.3146G>T (p.Arg1049Leu) | gnomAD v4 |
| 22 | g.50721001C>A | CA515260892 | SHANK3 | c.2769C>A (p.Arg923=) n.3353C>A c.1821C>A (p.Arg607=) c.1311C>A (p.Arg437=) c.*1767C>A (n.*1767C>A) c.3165C>A (p.Arg1055=) c.3147C>A (p.Arg1049=) | |
| 22 | g.50721001C= | CA2411007964 | SHANK3 | c.2769C= (p.Arg923=) n.3353C= c.1821C= (p.Arg607=) c.1311C= (p.Arg437=) c.*1767C= (n.*1767C=) c.3165C= (p.Arg1055=) c.3147C= (p.Arg1049=) | |
| 22 | g.50721001C>G | CA515260893 | SHANK3 | c.2769C>G (p.Arg923=) n.3353C>G c.1821C>G (p.Arg607=) c.1311C>G (p.Arg437=) c.*1767C>G (n.*1767C>G) c.3165C>G (p.Arg1055=) c.3147C>G (p.Arg1049=) | |
| 22 | g.50721001C>T | CA515260894 | SHANK3 | c.2769C>T (p.Arg923=) n.3353C>T c.1821C>T (p.Arg607=) c.1311C>T (p.Arg437=) c.*1767C>T (n.*1767C>T) c.3165C>T (p.Arg1055=) c.3147C>T (p.Arg1049=) | dbSNP |
| 22 | g.50721002C>A | CA515260895 | SHANK3 | c.2770C>A (p.Leu924Ile) n.3354C>A c.1822C>A (p.Leu608Ile) c.1312C>A (p.Leu438Ile) c.*1768C>A (n.*1768C>A) c.3166C>A (p.Leu1056Ile) c.3148C>A (p.Leu1050Ile) | |
| 22 | g.50721002C= | CA2411007965 | SHANK3 | c.2770C= (p.Leu924=) n.3354C= c.1822C= (p.Leu608=) c.1312C= (p.Leu438=) c.*1768C= (n.*1768C=) c.3166C= (p.Leu1056=) c.3148C= (p.Leu1050=) | |
| 22 | g.50721002C>G | CA515260896 | SHANK3 | c.2770C>G (p.Leu924Val) n.3354C>G c.1822C>G (p.Leu608Val) c.1312C>G (p.Leu438Val) c.*1768C>G (n.*1768C>G) c.3166C>G (p.Leu1056Val) c.3148C>G (p.Leu1050Val) | dbSNP |
| 22 | g.50721002C>T | CA325578549 | SHANK3 | c.2770C>T (p.Leu924Phe) n.3354C>T c.1822C>T (p.Leu608Phe) c.1312C>T (p.Leu438Phe) c.*1768C>T (n.*1768C>T) c.3166C>T (p.Leu1056Phe) c.3148C>T (p.Leu1050Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721003T>A | CA515260899 | SHANK3 | c.2771T>A (p.Leu924His) n.3355T>A c.1823T>A (p.Leu608His) c.1313T>A (p.Leu438His) c.*1769T>A (n.*1769T>A) c.3167T>A (p.Leu1056His) c.3149T>A (p.Leu1050His) | |
| 22 | g.50721003T>C | CA515260898 | SHANK3 | c.2771T>C (p.Leu924Pro) n.3355T>C c.1823T>C (p.Leu608Pro) c.1313T>C (p.Leu438Pro) c.*1769T>C (n.*1769T>C) c.3167T>C (p.Leu1056Pro) c.3149T>C (p.Leu1050Pro) | |
| 22 | g.50721003T>G | CA515260897 | SHANK3 | c.2771T>G (p.Leu924Arg) n.3355T>G c.1823T>G (p.Leu608Arg) c.1313T>G (p.Leu438Arg) c.*1769T>G (n.*1769T>G) c.3167T>G (p.Leu1056Arg) c.3149T>G (p.Leu1050Arg) | |
| 22 | g.50721004C>A | CA10325968 | SHANK3 | c.2772C>A (p.Leu924=) n.3356C>A c.1824C>A (p.Leu608=) c.1314C>A (p.Leu438=) c.*1770C>A (n.*1770C>A) c.3168C>A (p.Leu1056=) c.3150C>A (p.Leu1050=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721004C= | CA2411007966 | SHANK3 | c.2772C= (p.Leu924=) n.3356C= c.1824C= (p.Leu608=) c.1314C= (p.Leu438=) c.*1770C= (n.*1770C=) c.3168C= (p.Leu1056=) c.3150C= (p.Leu1050=) | |
| 22 | g.50721004C>G | CA515260900 | SHANK3 | c.2772C>G (p.Leu924=) n.3356C>G c.1824C>G (p.Leu608=) c.1314C>G (p.Leu438=) c.*1770C>G (n.*1770C>G) c.3168C>G (p.Leu1056=) c.3150C>G (p.Leu1050=) | |
| 22 | g.50721004C>T | CA10325969 | SHANK3 | c.2772C>T (p.Leu924=) n.3356C>T c.1824C>T (p.Leu608=) c.1314C>T (p.Leu438=) c.*1770C>T (n.*1770C>T) c.3168C>T (p.Leu1056=) c.3150C>T (p.Leu1050=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721005C>A | CA515260901 | SHANK3 | c.2773C>A (p.Leu925Met) n.3357C>A c.1825C>A (p.Leu609Met) c.1315C>A (p.Leu439Met) c.*1771C>A (n.*1771C>A) c.3169C>A (p.Leu1057Met) c.3151C>A (p.Leu1051Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721005C= | CA2411007967 | SHANK3 | c.2773C= (p.Leu925=) n.3357C= c.1825C= (p.Leu609=) c.1315C= (p.Leu439=) c.*1771C= (n.*1771C=) c.3169C= (p.Leu1057=) c.3151C= (p.Leu1051=) | |
| 22 | g.50721005C>G | CA515260902 | SHANK3 | c.2773C>G (p.Leu925Val) n.3357C>G c.1825C>G (p.Leu609Val) c.1315C>G (p.Leu439Val) c.*1771C>G (n.*1771C>G) c.3169C>G (p.Leu1057Val) c.3151C>G (p.Leu1051Val) | |
| 22 | g.50721005C>T | CA325578553 | SHANK3 | c.2773C>T (p.Leu925=) n.3357C>T c.1825C>T (p.Leu609=) c.1315C>T (p.Leu439=) c.*1771C>T (n.*1771C>T) c.3169C>T (p.Leu1057=) c.3151C>T (p.Leu1051=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721006T>A | CA515260903 | SHANK3 | c.2774T>A (p.Leu925Gln) n.3358T>A c.1826T>A (p.Leu609Gln) c.1316T>A (p.Leu439Gln) c.*1772T>A (n.*1772T>A) c.3170T>A (p.Leu1057Gln) c.3152T>A (p.Leu1051Gln) | |
| 22 | g.50721006T>C | CA515260904 | SHANK3 | c.2774T>C (p.Leu925Pro) n.3358T>C c.1826T>C (p.Leu609Pro) c.1316T>C (p.Leu439Pro) c.*1772T>C (n.*1772T>C) c.3170T>C (p.Leu1057Pro) c.3152T>C (p.Leu1051Pro) | ClinVar dbSNP |
| 22 | g.50721006T>G | CA515260905 | SHANK3 | c.2774T>G (p.Leu925Arg) n.3358T>G c.1826T>G (p.Leu609Arg) c.1316T>G (p.Leu439Arg) c.*1772T>G (n.*1772T>G) c.3170T>G (p.Leu1057Arg) c.3152T>G (p.Leu1051Arg) | |
| 22 | g.50721007G>A | CA515260906 | SHANK3 | c.2775G>A (p.Leu925=) n.3359G>A c.1827G>A (p.Leu609=) c.1317G>A (p.Leu439=) c.*1773G>A (n.*1773G>A) c.3171G>A (p.Leu1057=) c.3153G>A (p.Leu1051=) | gnomAD v4 |
| 22 | g.50721007G>C | CA515260907 | SHANK3 | c.2775G>C (p.Leu925=) n.3359G>C c.1827G>C (p.Leu609=) c.1317G>C (p.Leu439=) c.*1773G>C (n.*1773G>C) c.3171G>C (p.Leu1057=) c.3153G>C (p.Leu1051=) | |
| 22 | g.50721007G>T | CA515260908 | SHANK3 | c.2775G>T (p.Leu925=) n.3359G>T c.1827G>T (p.Leu609=) c.1317G>T (p.Leu439=) c.*1773G>T (n.*1773G>T) c.3171G>T (p.Leu1057=) c.3153G>T (p.Leu1051=) | gnomAD v4 |
| 22 | g.50721010del | CA2657583423 | SHANK3 | c.2778del (p.Thr927ProfsTer18) n.3362del c.1830del (p.Thr611ProfsTer18) c.1320del (p.Thr441ProfsTer18) c.*1776del (n.*1776del) c.3174del (p.Thr1059ProfsTer18) c.3156del (p.Thr1053ProfsTer18) | gnomAD v4 |
| 22 | g.50721008G>A | CA515260909 | SHANK3 | c.2776G>A (p.Gly926Arg) n.3360G>A c.1828G>A (p.Gly610Arg) c.1318G>A (p.Gly440Arg) c.*1774G>A (n.*1774G>A) c.3172G>A (p.Gly1058Arg) c.3154G>A (p.Gly1052Arg) | |
| 22 | g.50721008G>C | CA515260910 | SHANK3 | c.2776G>C (p.Gly926Arg) n.3360G>C c.1828G>C (p.Gly610Arg) c.1318G>C (p.Gly440Arg) c.*1774G>C (n.*1774G>C) c.3172G>C (p.Gly1058Arg) c.3154G>C (p.Gly1052Arg) | |
| 22 | g.50721008G= | CA2411007968 | SHANK3 | c.2776G= (p.Gly926=) n.3360G= c.1828G= (p.Gly610=) c.1318G= (p.Gly440=) c.*1774G= (n.*1774G=) c.3172G= (p.Gly1058=) c.3154G= (p.Gly1052=) | |
| 22 | g.50721008G>T | CA10325970 | SHANK3 | c.2776G>T (p.Gly926Trp) n.3360G>T c.1828G>T (p.Gly610Trp) c.1318G>T (p.Gly440Trp) c.*1774G>T (n.*1774G>T) c.3172G>T (p.Gly1058Trp) c.3154G>T (p.Gly1052Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721009G>A | CA515260911 | SHANK3 | c.2777G>A (p.Gly926Glu) n.3361G>A c.1829G>A (p.Gly610Glu) c.1319G>A (p.Gly440Glu) c.*1775G>A (n.*1775G>A) c.3173G>A (p.Gly1058Glu) c.3155G>A (p.Gly1052Glu) | ClinVar |
| 22 | g.50721009G>C | CA515260913 | SHANK3 | c.2777G>C (p.Gly926Ala) n.3361G>C c.1829G>C (p.Gly610Ala) c.1319G>C (p.Gly440Ala) c.*1775G>C (n.*1775G>C) c.3173G>C (p.Gly1058Ala) c.3155G>C (p.Gly1052Ala) | |
| 22 | g.50721009G>T | CA515260912 | SHANK3 | c.2777G>T (p.Gly926Val) n.3361G>T c.1829G>T (p.Gly610Val) c.1319G>T (p.Gly440Val) c.*1775G>T (n.*1775G>T) c.3173G>T (p.Gly1058Val) c.3155G>T (p.Gly1052Val) | |
| 22 | g.50721010G>A | CA10325971 | SHANK3 | c.2778G>A (p.Gly926=) n.3362G>A c.1830G>A (p.Gly610=) c.1320G>A (p.Gly440=) c.*1776G>A (n.*1776G>A) c.3174G>A (p.Gly1058=) c.3156G>A (p.Gly1052=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721010G>C | CA515260915 | SHANK3 | c.2778G>C (p.Gly926=) n.3362G>C c.1830G>C (p.Gly610=) c.1320G>C (p.Gly440=) c.*1776G>C (n.*1776G>C) c.3174G>C (p.Gly1058=) c.3156G>C (p.Gly1052=) | |
| 22 | g.50721010G= | CA2411007969 | SHANK3 | c.2778G= (p.Gly926=) n.3362G= c.1830G= (p.Gly610=) c.1320G= (p.Gly440=) c.*1776G= (n.*1776G=) c.3174G= (p.Gly1058=) c.3156G= (p.Gly1052=) | |
| 22 | g.50721010G>T | CA515260914 | SHANK3 | c.2778G>T (p.Gly926=) n.3362G>T c.1830G>T (p.Gly610=) c.1320G>T (p.Gly440=) c.*1776G>T (n.*1776G>T) c.3174G>T (p.Gly1058=) c.3156G>T (p.Gly1052=) | gnomAD v4 |
| 22 | g.50721011A= | CA2411007970 | SHANK3 | c.2779A= (p.Thr927=) n.3363A= c.1831A= (p.Thr611=) c.1321A= (p.Thr441=) c.*1777A= (n.*1777A=) c.3175A= (p.Thr1059=) c.3157A= (p.Thr1053=) | |
| 22 | g.50721011A>C | CA515260916 | SHANK3 | c.2779A>C (p.Thr927Pro) n.3363A>C c.1831A>C (p.Thr611Pro) c.1321A>C (p.Thr441Pro) c.*1777A>C (n.*1777A>C) c.3175A>C (p.Thr1059Pro) c.3157A>C (p.Thr1053Pro) | dbSNP |
| 22 | g.50721011A>G | CA515260917 | SHANK3 | c.2779A>G (p.Thr927Ala) n.3363A>G c.1831A>G (p.Thr611Ala) c.1321A>G (p.Thr441Ala) c.*1777A>G (n.*1777A>G) c.3175A>G (p.Thr1059Ala) c.3157A>G (p.Thr1053Ala) | gnomAD v4 |
| 22 | g.50721011A>T | CA515260918 | SHANK3 | c.2779A>T (p.Thr927Ser) n.3363A>T c.1831A>T (p.Thr611Ser) c.1321A>T (p.Thr441Ser) c.*1777A>T (n.*1777A>T) c.3175A>T (p.Thr1059Ser) c.3157A>T (p.Thr1053Ser) | |
| 22 | g.50721011_50721023delinsACCGGCCCCACCG | CA2411007971 | SHANK3 | c.2779_2791delinsACCGGCCCCACCG (p.Thr927=) n.3363_3375delinsACCGGCCCCACCG c.1831_1843delinsACCGGCCCCACCG (p.Thr611=) c.1321_1333delinsACCGGCCCCACCG (p.Thr441=) c.*1777_*1789delinsACCGGCCCCACCG (n.*1777_*1789delinsACCGGCCCCACCG) c.3175_3187delinsACCGGCCCCACCG (p.Thr1059=) c.3157_3169delinsACCGGCCCCACCG (p.Thr1053=) | |
| 22 | g.50721012C>A | CA515260919 | SHANK3 | c.2780C>A (p.Thr927Asn) n.3364C>A c.1832C>A (p.Thr611Asn) c.1322C>A (p.Thr441Asn) c.*1778C>A (n.*1778C>A) c.3176C>A (p.Thr1059Asn) c.3158C>A (p.Thr1053Asn) | |
| 22 | g.50721012C= | CA2411007973 | SHANK3 | c.2780C= (p.Thr927=) n.3364C= c.1832C= (p.Thr611=) c.1322C= (p.Thr441=) c.*1778C= (n.*1778C=) c.3176C= (p.Thr1059=) c.3158C= (p.Thr1053=) | |
| 22 | g.50721012C>G | CA10325972 | SHANK3 | c.2780C>G (p.Thr927Ser) n.3364C>G c.1832C>G (p.Thr611Ser) c.1322C>G (p.Thr441Ser) c.*1778C>G (n.*1778C>G) c.3176C>G (p.Thr1059Ser) c.3158C>G (p.Thr1053Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721012C>T | CA515260920 | SHANK3 | c.2780C>T (p.Thr927Ile) n.3364C>T c.1832C>T (p.Thr611Ile) c.1322C>T (p.Thr441Ile) c.*1778C>T (n.*1778C>T) c.3176C>T (p.Thr1059Ile) c.3158C>T (p.Thr1053Ile) | gnomAD v4 |
| 22 | g.50721018_50721029del | CA2411007972 | SHANK3 | c.2786_2797del (p.Pro929_Gly932del) n.3370_3381del c.1838_1849del (p.Pro613_Gly616del) c.1328_1339del (p.Pro443_Gly446del) c.*1784_*1795del (n.*1784_*1795del) c.3182_3193del (p.Pro1061_Gly1064del) c.3164_3175del (p.Pro1055_Gly1058del) | dbSNP |
| 22 | g.50721013C>A | CA515260921 | SHANK3 | c.2781C>A (p.Thr927=) n.3365C>A c.1833C>A (p.Thr611=) c.1323C>A (p.Thr441=) c.*1779C>A (n.*1779C>A) c.3177C>A (p.Thr1059=) c.3159C>A (p.Thr1053=) | dbSNP gnomAD v4 |
| 22 | g.50721013C= | CA2411007974 | SHANK3 | c.2781C= (p.Thr927=) n.3365C= c.1833C= (p.Thr611=) c.1323C= (p.Thr441=) c.*1779C= (n.*1779C=) c.3177C= (p.Thr1059=) c.3159C= (p.Thr1053=) | |
| 22 | g.50721013C>G | CA325578565 | SHANK3 | c.2781C>G (p.Thr927=) n.3365C>G c.1833C>G (p.Thr611=) c.1323C>G (p.Thr441=) c.*1779C>G (n.*1779C>G) c.3177C>G (p.Thr1059=) c.3159C>G (p.Thr1053=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721013C>T | CA10325973 | SHANK3 | c.2781C>T (p.Thr927=) n.3365C>T c.1833C>T (p.Thr611=) c.1323C>T (p.Thr441=) c.*1779C>T (n.*1779C>T) c.3177C>T (p.Thr1059=) c.3159C>T (p.Thr1053=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721014G>A | CA10325974 | SHANK3 | c.2782G>A (p.Gly928Ser) n.3366G>A c.1834G>A (p.Gly612Ser) c.1324G>A (p.Gly442Ser) c.*1780G>A (n.*1780G>A) c.3178G>A (p.Gly1060Ser) c.3160G>A (p.Gly1054Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721014G>C | CA515260922 | SHANK3 | c.2782G>C (p.Gly928Arg) n.3366G>C c.1834G>C (p.Gly612Arg) c.1324G>C (p.Gly442Arg) c.*1780G>C (n.*1780G>C) c.3178G>C (p.Gly1060Arg) c.3160G>C (p.Gly1054Arg) | gnomAD v4 |
| 22 | g.50721014G= | CA2411007975 | SHANK3 | c.2782G= (p.Gly928=) n.3366G= c.1834G= (p.Gly612=) c.1324G= (p.Gly442=) c.*1780G= (n.*1780G=) c.3178G= (p.Gly1060=) c.3160G= (p.Gly1054=) | |
| 22 | g.50721014G>T | CA515260923 | SHANK3 | c.2782G>T (p.Gly928Cys) n.3366G>T c.1834G>T (p.Gly612Cys) c.1324G>T (p.Gly442Cys) c.*1780G>T (n.*1780G>T) c.3178G>T (p.Gly1060Cys) c.3160G>T (p.Gly1054Cys) | gnomAD v4 |
| 22 | g.50721015G>A | CA515260924 | SHANK3 | c.2783G>A (p.Gly928Asp) n.3367G>A c.1835G>A (p.Gly612Asp) c.1325G>A (p.Gly442Asp) c.*1781G>A (n.*1781G>A) c.3179G>A (p.Gly1060Asp) c.3161G>A (p.Gly1054Asp) | gnomAD v4 |
| 22 | g.50721015G>C | CA515260926 | SHANK3 | c.2783G>C (p.Gly928Ala) n.3367G>C c.1835G>C (p.Gly612Ala) c.1325G>C (p.Gly442Ala) c.*1781G>C (n.*1781G>C) c.3179G>C (p.Gly1060Ala) c.3161G>C (p.Gly1054Ala) | |
| 22 | g.50721015G>T | CA515260925 | SHANK3 | c.2783G>T (p.Gly928Val) n.3367G>T c.1835G>T (p.Gly612Val) c.1325G>T (p.Gly442Val) c.*1781G>T (n.*1781G>T) c.3179G>T (p.Gly1060Val) c.3161G>T (p.Gly1054Val) | gnomAD v4 |
| 22 | g.50721015_50721016delinsGC | CA2411007976 | SHANK3 | c.2783_2784delinsGC (p.Gly928=) n.3367_3368delinsGC c.1835_1836delinsGC (p.Gly612=) c.1325_1326delinsGC (p.Gly442=) c.*1781_*1782delinsGC (n.*1781_*1782delinsGC) c.3179_3180delinsGC (p.Gly1060=) c.3161_3162delinsGC (p.Gly1054=) | |
| 22 | g.50721016C>A | CA515260927 | SHANK3 | c.2784C>A (p.Gly928=) n.3368C>A c.1836C>A (p.Gly612=) c.1326C>A (p.Gly442=) c.*1782C>A (n.*1782C>A) c.3180C>A (p.Gly1060=) c.3162C>A (p.Gly1054=) | gnomAD v4 |
| 22 | g.50721016C= | CA2411007977 | SHANK3 | c.2784C= (p.Gly928=) n.3368C= c.1836C= (p.Gly612=) c.1326C= (p.Gly442=) c.*1782C= (n.*1782C=) c.3180C= (p.Gly1060=) c.3162C= (p.Gly1054=) | |
| 22 | g.50721016C>G | CA10325975 | SHANK3 | c.2784C>G (p.Gly928=) n.3368C>G c.1836C>G (p.Gly612=) c.1326C>G (p.Gly442=) c.*1782C>G (n.*1782C>G) c.3180C>G (p.Gly1060=) c.3162C>G (p.Gly1054=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721016C>T | CA515260928 | SHANK3 | c.2784C>T (p.Gly928=) n.3368C>T c.1836C>T (p.Gly612=) c.1326C>T (p.Gly442=) c.*1782C>T (n.*1782C>T) c.3180C>T (p.Gly1060=) c.3162C>T (p.Gly1054=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721019del | CA645369799 | SHANK3 | c.2787del (p.Thr930ProfsTer15) n.3371del c.1839del (p.Thr614ProfsTer15) c.1329del (p.Thr444ProfsTer15) c.*1785del (n.*1785del) c.3183del (p.Thr1062ProfsTer15) c.3165del (p.Thr1056ProfsTer15) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721017C>A | CA515260929 | SHANK3 | c.2785C>A (p.Pro929Thr) n.3369C>A c.1837C>A (p.Pro613Thr) c.1327C>A (p.Pro443Thr) c.*1783C>A (n.*1783C>A) c.3181C>A (p.Pro1061Thr) c.3163C>A (p.Pro1055Thr) | gnomAD v4 |
| 22 | g.50721017C= | CA2411007978 | SHANK3 | c.2785C= (p.Pro929=) n.3369C= c.1837C= (p.Pro613=) c.1327C= (p.Pro443=) c.*1783C= (n.*1783C=) c.3181C= (p.Pro1061=) c.3163C= (p.Pro1055=) | |
| 22 | g.50721017C>G | CA515260930 | SHANK3 | c.2785C>G (p.Pro929Ala) n.3369C>G c.1837C>G (p.Pro613Ala) c.1327C>G (p.Pro443Ala) c.*1783C>G (n.*1783C>G) c.3181C>G (p.Pro1061Ala) c.3163C>G (p.Pro1055Ala) | |
| 22 | g.50721017C>T | CA10325976 | SHANK3 | c.2785C>T (p.Pro929Ser) n.3369C>T c.1837C>T (p.Pro613Ser) c.1327C>T (p.Pro443Ser) c.*1783C>T (n.*1783C>T) c.3181C>T (p.Pro1061Ser) c.3163C>T (p.Pro1055Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721018C>A | CA515260931 | SHANK3 | c.2786C>A (p.Pro929His) n.3370C>A c.1838C>A (p.Pro613His) c.1328C>A (p.Pro443His) c.*1784C>A (n.*1784C>A) c.3182C>A (p.Pro1061His) c.3164C>A (p.Pro1055His) | |
| 22 | g.50721018C= | CA2411007979 | SHANK3 | c.2786C= (p.Pro929=) n.3370C= c.1838C= (p.Pro613=) c.1328C= (p.Pro443=) c.*1784C= (n.*1784C=) c.3182C= (p.Pro1061=) c.3164C= (p.Pro1055=) | |
| 22 | g.50721018C>G | CA515260932 | SHANK3 | c.2786C>G (p.Pro929Arg) n.3370C>G c.1838C>G (p.Pro613Arg) c.1328C>G (p.Pro443Arg) c.*1784C>G (n.*1784C>G) c.3182C>G (p.Pro1061Arg) c.3164C>G (p.Pro1055Arg) | gnomAD v4 |
| 22 | g.50721018C>T | CA515260933 | SHANK3 | c.2786C>T (p.Pro929Leu) n.3370C>T c.1838C>T (p.Pro613Leu) c.1328C>T (p.Pro443Leu) c.*1784C>T (n.*1784C>T) c.3182C>T (p.Pro1061Leu) c.3164C>T (p.Pro1055Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721019C>A | CA515260935 | SHANK3 | c.2787C>A (p.Pro929=) n.3371C>A c.1839C>A (p.Pro613=) c.1329C>A (p.Pro443=) c.*1785C>A (n.*1785C>A) c.3183C>A (p.Pro1061=) c.3165C>A (p.Pro1055=) | gnomAD v4 |
| 22 | g.50721019C= | CA2411007980 | SHANK3 | c.2787C= (p.Pro929=) n.3371C= c.1839C= (p.Pro613=) c.1329C= (p.Pro443=) c.*1785C= (n.*1785C=) c.3183C= (p.Pro1061=) c.3165C= (p.Pro1055=) | |
| 22 | g.50721019C>G | CA515260934 | SHANK3 | c.2787C>G (p.Pro929=) n.3371C>G c.1839C>G (p.Pro613=) c.1329C>G (p.Pro443=) c.*1785C>G (n.*1785C>G) c.3183C>G (p.Pro1061=) c.3165C>G (p.Pro1055=) | |
| 22 | g.50721019C>T | CA10325977 | SHANK3 | c.2787C>T (p.Pro929=) n.3371C>T c.1839C>T (p.Pro613=) c.1329C>T (p.Pro443=) c.*1785C>T (n.*1785C>T) c.3183C>T (p.Pro1061=) c.3165C>T (p.Pro1055=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721020A>C | CA515260936 | SHANK3 | c.2788A>C (p.Thr930Pro) n.3372A>C c.1840A>C (p.Thr614Pro) c.1330A>C (p.Thr444Pro) c.*1786A>C (n.*1786A>C) c.3184A>C (p.Thr1062Pro) c.3166A>C (p.Thr1056Pro) | |
| 22 | g.50721020A>G | CA515260937 | SHANK3 | c.2788A>G (p.Thr930Ala) n.3372A>G c.1840A>G (p.Thr614Ala) c.1330A>G (p.Thr444Ala) c.*1786A>G (n.*1786A>G) c.3184A>G (p.Thr1062Ala) c.3166A>G (p.Thr1056Ala) | gnomAD v4 |
| 22 | g.50721020A>T | CA515260938 | SHANK3 | c.2788A>T (p.Thr930Ser) n.3372A>T c.1840A>T (p.Thr614Ser) c.1330A>T (p.Thr444Ser) c.*1786A>T (n.*1786A>T) c.3184A>T (p.Thr1062Ser) c.3166A>T (p.Thr1056Ser) | |
| 22 | g.50721021C>A | CA515260939 | SHANK3 | c.2789C>A (p.Thr930Asn) n.3373C>A c.1841C>A (p.Thr614Asn) c.1331C>A (p.Thr444Asn) c.*1787C>A (n.*1787C>A) c.3185C>A (p.Thr1062Asn) c.3167C>A (p.Thr1056Asn) | gnomAD v4 |
| 22 | g.50721021C>G | CA515260940 | SHANK3 | c.2789C>G (p.Thr930Ser) n.3373C>G c.1841C>G (p.Thr614Ser) c.1331C>G (p.Thr444Ser) c.*1787C>G (n.*1787C>G) c.3185C>G (p.Thr1062Ser) c.3167C>G (p.Thr1056Ser) | |
| 22 | g.50721021C>T | CA515260941 | SHANK3 | c.2789C>T (p.Thr930Ile) n.3373C>T c.1841C>T (p.Thr614Ile) c.1331C>T (p.Thr444Ile) c.*1787C>T (n.*1787C>T) c.3185C>T (p.Thr1062Ile) c.3167C>T (p.Thr1056Ile) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721022C>A | CA515260942 | SHANK3 | c.2790C>A (p.Thr930=) n.3374C>A c.1842C>A (p.Thr614=) c.1332C>A (p.Thr444=) c.*1788C>A (n.*1788C>A) c.3186C>A (p.Thr1062=) c.3168C>A (p.Thr1056=) | gnomAD v4 |
| 22 | g.50721022C= | CA2411007981 | SHANK3 | c.2790C= (p.Thr930=) n.3374C= c.1842C= (p.Thr614=) c.1332C= (p.Thr444=) c.*1788C= (n.*1788C=) c.3186C= (p.Thr1062=) c.3168C= (p.Thr1056=) | |
| 22 | g.50721022C>G | CA515260943 | SHANK3 | c.2790C>G (p.Thr930=) n.3374C>G c.1842C>G (p.Thr614=) c.1332C>G (p.Thr444=) c.*1788C>G (n.*1788C>G) c.3186C>G (p.Thr1062=) c.3168C>G (p.Thr1056=) | |
| 22 | g.50721022C>T | CA515260944 | SHANK3 | c.2790C>T (p.Thr930=) n.3374C>T c.1842C>T (p.Thr614=) c.1332C>T (p.Thr444=) c.*1788C>T (n.*1788C>T) c.3186C>T (p.Thr1062=) c.3168C>T (p.Thr1056=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721022_50721023insATT | CA2550773831 | SHANK3 | c.2790_2791insATT (p.Thr930_Ala931insIle) n.3374_3375insATT c.1842_1843insATT (p.Thr614_Ala615insIle) c.1332_1333insATT (p.Thr444_Ala445insIle) c.*1788_*1789insATT (n.*1788_*1789insATT) c.3186_3187insATT (p.Thr1062_Ala1063insIle) c.3168_3169insATT (p.Thr1056_Ala1057insIle) | |
| 22 | g.50721023G>A | CA515260945 | SHANK3 | c.2791G>A (p.Ala931Thr) n.3375G>A c.1843G>A (p.Ala615Thr) c.1333G>A (p.Ala445Thr) c.*1789G>A (n.*1789G>A) c.3187G>A (p.Ala1063Thr) c.3169G>A (p.Ala1057Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721023G>C | CA515260946 | SHANK3 | c.2791G>C (p.Ala931Pro) n.3375G>C c.1843G>C (p.Ala615Pro) c.1333G>C (p.Ala445Pro) c.*1789G>C (n.*1789G>C) c.3187G>C (p.Ala1063Pro) c.3169G>C (p.Ala1057Pro) | |
| 22 | g.50721023G= | CA2411007982 | SHANK3 | c.2791G= (p.Ala931=) n.3375G= c.1843G= (p.Ala615=) c.1333G= (p.Ala445=) c.*1789G= (n.*1789G=) c.3187G= (p.Ala1063=) c.3169G= (p.Ala1057=) | |
| 22 | g.50721023G>T | CA515260947 | SHANK3 | c.2791G>T (p.Ala931Ser) n.3375G>T c.1843G>T (p.Ala615Ser) c.1333G>T (p.Ala445Ser) c.*1789G>T (n.*1789G>T) c.3187G>T (p.Ala1063Ser) c.3169G>T (p.Ala1057Ser) | gnomAD v4 |
| 22 | g.50721024C>A | CA515260950 | SHANK3 | c.2792C>A (p.Ala931Asp) n.3376C>A c.1844C>A (p.Ala615Asp) c.1334C>A (p.Ala445Asp) c.*1790C>A (n.*1790C>A) c.3188C>A (p.Ala1063Asp) c.3170C>A (p.Ala1057Asp) | gnomAD v4 |
| 22 | g.50721024C>G | CA515260948 | SHANK3 | c.2792C>G (p.Ala931Gly) n.3376C>G c.1844C>G (p.Ala615Gly) c.1334C>G (p.Ala445Gly) c.*1790C>G (n.*1790C>G) c.3188C>G (p.Ala1063Gly) c.3170C>G (p.Ala1057Gly) | |
| 22 | g.50721024C>T | CA515260949 | SHANK3 | c.2792C>T (p.Ala931Val) n.3376C>T c.1844C>T (p.Ala615Val) c.1334C>T (p.Ala445Val) c.*1790C>T (n.*1790C>T) c.3188C>T (p.Ala1063Val) c.3170C>T (p.Ala1057Val) | gnomAD v4 |
| 22 | g.50721025C>A | CA515260951 | SHANK3 | c.2793C>A (p.Ala931=) n.3377C>A c.1845C>A (p.Ala615=) c.1335C>A (p.Ala445=) c.*1791C>A (n.*1791C>A) c.3189C>A (p.Ala1063=) c.3171C>A (p.Ala1057=) | |
| 22 | g.50721025C= | CA2411007983 | SHANK3 | c.2793C= (p.Ala931=) n.3377C= c.1845C= (p.Ala615=) c.1335C= (p.Ala445=) c.*1791C= (n.*1791C=) c.3189C= (p.Ala1063=) c.3171C= (p.Ala1057=) | |
| 22 | g.50721025C>G | CA515260952 | SHANK3 | c.2793C>G (p.Ala931=) n.3377C>G c.1845C>G (p.Ala615=) c.1335C>G (p.Ala445=) c.*1791C>G (n.*1791C>G) c.3189C>G (p.Ala1063=) c.3171C>G (p.Ala1057=) | |
| 22 | g.50721025C>T | CA10325978 | SHANK3 | c.2793C>T (p.Ala931=) n.3377C>T c.1845C>T (p.Ala615=) c.1335C>T (p.Ala445=) c.*1791C>T (n.*1791C>T) c.3189C>T (p.Ala1063=) c.3171C>T (p.Ala1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721026G>A | CA10325979 | SHANK3 | c.2794G>A (p.Gly932Ser) n.3378G>A c.1846G>A (p.Gly616Ser) c.1336G>A (p.Gly446Ser) c.*1792G>A (n.*1792G>A) c.3190G>A (p.Gly1064Ser) c.3172G>A (p.Gly1058Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721026G>C | CA515260953 | SHANK3 | c.2794G>C (p.Gly932Arg) n.3378G>C c.1846G>C (p.Gly616Arg) c.1336G>C (p.Gly446Arg) c.*1792G>C (n.*1792G>C) c.3190G>C (p.Gly1064Arg) c.3172G>C (p.Gly1058Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721026G= | CA2411007984 | SHANK3 | c.2794G= (p.Gly932=) n.3378G= c.1846G= (p.Gly616=) c.1336G= (p.Gly446=) c.*1792G= (n.*1792G=) c.3190G= (p.Gly1064=) c.3172G= (p.Gly1058=) | |
| 22 | g.50721026G>T | CA515260954 | SHANK3 | c.2794G>T (p.Gly932Cys) n.3378G>T c.1846G>T (p.Gly616Cys) c.1336G>T (p.Gly446Cys) c.*1792G>T (n.*1792G>T) c.3190G>T (p.Gly1064Cys) c.3172G>T (p.Gly1058Cys) | gnomAD v4 |
| 22 | g.50721027G>A | CA515260955 | SHANK3 | c.2795G>A (p.Gly932Asp) n.3379G>A c.1847G>A (p.Gly616Asp) c.1337G>A (p.Gly446Asp) c.*1793G>A (n.*1793G>A) c.3191G>A (p.Gly1064Asp) c.3173G>A (p.Gly1058Asp) | gnomAD v4 |
| 22 | g.50721027G>C | CA515260956 | SHANK3 | c.2795G>C (p.Gly932Ala) n.3379G>C c.1847G>C (p.Gly616Ala) c.1337G>C (p.Gly446Ala) c.*1793G>C (n.*1793G>C) c.3191G>C (p.Gly1064Ala) c.3173G>C (p.Gly1058Ala) | |
| 22 | g.50721027G>T | CA515260957 | SHANK3 | c.2795G>T (p.Gly932Val) n.3379G>T c.1847G>T (p.Gly616Val) c.1337G>T (p.Gly446Val) c.*1793G>T (n.*1793G>T) c.3191G>T (p.Gly1064Val) c.3173G>T (p.Gly1058Val) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721028C>A | CA515260958 | SHANK3 | c.2796C>A (p.Gly932=) n.3380C>A c.1848C>A (p.Gly616=) c.1338C>A (p.Gly446=) c.*1794C>A (n.*1794C>A) c.3192C>A (p.Gly1064=) c.3174C>A (p.Gly1058=) | gnomAD v4 |
| 22 | g.50721028C= | CA2411007985 | SHANK3 | c.2796C= (p.Gly932=) n.3380C= c.1848C= (p.Gly616=) c.1338C= (p.Gly446=) c.*1794C= (n.*1794C=) c.3192C= (p.Gly1064=) c.3174C= (p.Gly1058=) | |
| 22 | g.50721028C>G | CA515260959 | SHANK3 | c.2796C>G (p.Gly932=) n.3380C>G c.1848C>G (p.Gly616=) c.1338C>G (p.Gly446=) c.*1794C>G (n.*1794C>G) c.3192C>G (p.Gly1064=) c.3174C>G (p.Gly1058=) | gnomAD v4 |
| 22 | g.50721028C>T | CA515260960 | SHANK3 | c.2796C>T (p.Gly932=) n.3380C>T c.1848C>T (p.Gly616=) c.1338C>T (p.Gly446=) c.*1794C>T (n.*1794C>T) c.3192C>T (p.Gly1064=) c.3174C>T (p.Gly1058=) | dbSNP gnomAD v4 |
| 22 | g.50721029C>A | CA515260962 | SHANK3 | c.2797C>A (p.Arg933Ser) n.3381C>A c.1849C>A (p.Arg617Ser) c.1339C>A (p.Arg447Ser) c.*1795C>A (n.*1795C>A) c.3193C>A (p.Arg1065Ser) c.3175C>A (p.Arg1059Ser) | gnomAD v4 |
| 22 | g.50721029C= | CA2411007986 | SHANK3 | c.2797C= (p.Arg933=) n.3381C= c.1849C= (p.Arg617=) c.1339C= (p.Arg447=) c.*1795C= (n.*1795C=) c.3193C= (p.Arg1065=) c.3175C= (p.Arg1059=) | |
| 22 | g.50721029C>G | CA515260963 | SHANK3 | c.2797C>G (p.Arg933Gly) n.3381C>G c.1849C>G (p.Arg617Gly) c.1339C>G (p.Arg447Gly) c.*1795C>G (n.*1795C>G) c.3193C>G (p.Arg1065Gly) c.3175C>G (p.Arg1059Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721029C>T | CA515260961 | SHANK3 | c.2797C>T (p.Arg933Cys) n.3381C>T c.1849C>T (p.Arg617Cys) c.1339C>T (p.Arg447Cys) c.*1795C>T (n.*1795C>T) c.3193C>T (p.Arg1065Cys) c.3175C>T (p.Arg1059Cys) | dbSNP gnomAD v4 |
| 22 | g.50721030G>A | CA10325980 | SHANK3 | c.2798G>A (p.Arg933His) n.3382G>A c.1850G>A (p.Arg617His) c.1340G>A (p.Arg447His) c.*1796G>A (n.*1796G>A) c.3194G>A (p.Arg1065His) c.3176G>A (p.Arg1059His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721030G>C | CA515260964 | SHANK3 | c.2798G>C (p.Arg933Pro) n.3382G>C c.1850G>C (p.Arg617Pro) c.1340G>C (p.Arg447Pro) c.*1796G>C (n.*1796G>C) c.3194G>C (p.Arg1065Pro) c.3176G>C (p.Arg1059Pro) | |
| 22 | g.50721030G= | CA2411007987 | SHANK3 | c.2798G= (p.Arg933=) n.3382G= c.1850G= (p.Arg617=) c.1340G= (p.Arg447=) c.*1796G= (n.*1796G=) c.3194G= (p.Arg1065=) c.3176G= (p.Arg1059=) | |
| 22 | g.50721030G>T | CA515260965 | SHANK3 | c.2798G>T (p.Arg933Leu) n.3382G>T c.1850G>T (p.Arg617Leu) c.1340G>T (p.Arg447Leu) c.*1796G>T (n.*1796G>T) c.3194G>T (p.Arg1065Leu) c.3176G>T (p.Arg1059Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721031C>A | CA515260966 | SHANK3 | c.2799C>A (p.Arg933=) n.3383C>A c.1851C>A (p.Arg617=) c.1341C>A (p.Arg447=) c.*1797C>A (n.*1797C>A) c.3195C>A (p.Arg1065=) c.3177C>A (p.Arg1059=) | gnomAD v4 |
| 22 | g.50721031C>G | CA515260967 | SHANK3 | c.2799C>G (p.Arg933=) n.3383C>G c.1851C>G (p.Arg617=) c.1341C>G (p.Arg447=) c.*1797C>G (n.*1797C>G) c.3195C>G (p.Arg1065=) c.3177C>G (p.Arg1059=) | |
| 22 | g.50721031C>T | CA515260968 | SHANK3 | c.2799C>T (p.Arg933=) n.3383C>T c.1851C>T (p.Arg617=) c.1341C>T (p.Arg447=) c.*1797C>T (n.*1797C>T) c.3195C>T (p.Arg1065=) c.3177C>T (p.Arg1059=) | gnomAD v4 |
| 22 | g.50721032G>A | CA515260971 | SHANK3 | c.2800G>A (p.Asp934Asn) n.3384G>A c.1852G>A (p.Asp618Asn) c.1342G>A (p.Asp448Asn) c.*1798G>A (n.*1798G>A) c.3196G>A (p.Asp1066Asn) c.3178G>A (p.Asp1060Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721032G>C | CA515260969 | SHANK3 | c.2800G>C (p.Asp934His) n.3384G>C c.1852G>C (p.Asp618His) c.1342G>C (p.Asp448His) c.*1798G>C (n.*1798G>C) c.3196G>C (p.Asp1066His) c.3178G>C (p.Asp1060His) | |
| 22 | g.50721032G= | CA2411007988 | SHANK3 | c.2800G= (p.Asp934=) n.3384G= c.1852G= (p.Asp618=) c.1342G= (p.Asp448=) c.*1798G= (n.*1798G=) c.3196G= (p.Asp1066=) c.3178G= (p.Asp1060=) | |
| 22 | g.50721032G>T | CA515260970 | SHANK3 | c.2800G>T (p.Asp934Tyr) n.3384G>T c.1852G>T (p.Asp618Tyr) c.1342G>T (p.Asp448Tyr) c.*1798G>T (n.*1798G>T) c.3196G>T (p.Asp1066Tyr) c.3178G>T (p.Asp1060Tyr) | gnomAD v4 |
| 22 | g.50721033A= | CA2411007989 | SHANK3 | c.2801A= (p.Asp934=) n.3385A= c.1853A= (p.Asp618=) c.1343A= (p.Asp448=) c.*1799A= (n.*1799A=) c.3197A= (p.Asp1066=) c.3179A= (p.Asp1060=) | |
| 22 | g.50721033A>C | CA515260972 | SHANK3 | c.2801A>C (p.Asp934Ala) n.3385A>C c.1853A>C (p.Asp618Ala) c.1343A>C (p.Asp448Ala) c.*1799A>C (n.*1799A>C) c.3197A>C (p.Asp1066Ala) c.3179A>C (p.Asp1060Ala) | ClinVar gnomAD v4 |
| 22 | g.50721033A>G | CA515260973 | SHANK3 | c.2801A>G (p.Asp934Gly) n.3385A>G c.1853A>G (p.Asp618Gly) c.1343A>G (p.Asp448Gly) c.*1799A>G (n.*1799A>G) c.3197A>G (p.Asp1066Gly) c.3179A>G (p.Asp1060Gly) | dbSNP gnomAD v4 |
| 22 | g.50721033A>T | CA515260974 | SHANK3 | c.2801A>T (p.Asp934Val) n.3385A>T c.1853A>T (p.Asp618Val) c.1343A>T (p.Asp448Val) c.*1799A>T (n.*1799A>T) c.3197A>T (p.Asp1066Val) c.3179A>T (p.Asp1060Val) | |
| 22 | g.50721034C>A | CA515260975 | SHANK3 | c.2802C>A (p.Asp934Glu) n.3386C>A c.1854C>A (p.Asp618Glu) c.1344C>A (p.Asp448Glu) c.*1800C>A (n.*1800C>A) c.3198C>A (p.Asp1066Glu) c.3180C>A (p.Asp1060Glu) | gnomAD v4 |
| 22 | g.50721034C= | CA2411007990 | SHANK3 | c.2802C= (p.Asp934=) n.3386C= c.1854C= (p.Asp618=) c.1344C= (p.Asp448=) c.*1800C= (n.*1800C=) c.3198C= (p.Asp1066=) c.3180C= (p.Asp1060=) | |
| 22 | g.50721034C>G | CA515260976 | SHANK3 | c.2802C>G (p.Asp934Glu) n.3386C>G c.1854C>G (p.Asp618Glu) c.1344C>G (p.Asp448Glu) c.*1800C>G (n.*1800C>G) c.3198C>G (p.Asp1066Glu) c.3180C>G (p.Asp1060Glu) | gnomAD v4 |
| 22 | g.50721034C>T | CA515260977 | SHANK3 | c.2802C>T (p.Asp934=) n.3386C>T c.1854C>T (p.Asp618=) c.1344C>T (p.Asp448=) c.*1800C>T (n.*1800C>T) c.3198C>T (p.Asp1066=) c.3180C>T (p.Asp1060=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721035C>A | CA515260978 | SHANK3 | c.2803C>A (p.Leu935Met) n.3387C>A c.1855C>A (p.Leu619Met) c.1345C>A (p.Leu449Met) c.*1801C>A (n.*1801C>A) c.3199C>A (p.Leu1067Met) c.3181C>A (p.Leu1061Met) | |
| 22 | g.50721035C= | CA2411007991 | SHANK3 | c.2803C= (p.Leu935=) n.3387C= c.1855C= (p.Leu619=) c.1345C= (p.Leu449=) c.*1801C= (n.*1801C=) c.3199C= (p.Leu1067=) c.3181C= (p.Leu1061=) | |
| 22 | g.50721035C>G | CA515260980 | SHANK3 | c.2803C>G (p.Leu935Val) n.3387C>G c.1855C>G (p.Leu619Val) c.1345C>G (p.Leu449Val) c.*1801C>G (n.*1801C>G) c.3199C>G (p.Leu1067Val) c.3181C>G (p.Leu1061Val) | gnomAD v4 |
| 22 | g.50721035C>T | CA515260979 | SHANK3 | c.2803C>T (p.Leu935=) n.3387C>T c.1855C>T (p.Leu619=) c.1345C>T (p.Leu449=) c.*1801C>T (n.*1801C>T) c.3199C>T (p.Leu1067=) c.3181C>T (p.Leu1061=) | dbSNP gnomAD v4 |
| 22 | g.50721042_50721044dup | CA2577768682 | SHANK3 | c.2810_2812dup (p.Leu937_Pro938insLeu) n.3394_3396dup c.1862_1864dup (p.Leu621_Pro622insLeu) c.1352_1354dup (p.Leu451_Pro452insLeu) c.*1808_*1810dup (n.*1808_*1810dup) c.3206_3208dup (p.Leu1069_Pro1070insLeu) c.3188_3190dup (p.Leu1063_Pro1064insLeu) | |
| 22 | g.50721042_50721044del | CA2657583424 | SHANK3 | c.2810_2812del (p.Leu937del) n.3394_3396del c.1862_1864del (p.Leu621del) c.1352_1354del (p.Leu451del) c.*1808_*1810del (n.*1808_*1810del) c.3206_3208del (p.Leu1069del) c.3188_3190del (p.Leu1063del) | gnomAD v4 |
| 22 | g.50721036T>A | CA515260981 | SHANK3 | c.2804T>A (p.Leu935Gln) n.3388T>A c.1856T>A (p.Leu619Gln) c.1346T>A (p.Leu449Gln) c.*1802T>A (n.*1802T>A) c.3200T>A (p.Leu1067Gln) c.3182T>A (p.Leu1061Gln) | |
| 22 | g.50721036T>C | CA515260982 | SHANK3 | c.2804T>C (p.Leu935Pro) n.3388T>C c.1856T>C (p.Leu619Pro) c.1346T>C (p.Leu449Pro) c.*1802T>C (n.*1802T>C) c.3200T>C (p.Leu1067Pro) c.3182T>C (p.Leu1061Pro) | gnomAD v4 |
| 22 | g.50721036T>G | CA515260983 | SHANK3 | c.2804T>G (p.Leu935Arg) n.3388T>G c.1856T>G (p.Leu619Arg) c.1346T>G (p.Leu449Arg) c.*1802T>G (n.*1802T>G) c.3200T>G (p.Leu1067Arg) c.3182T>G (p.Leu1061Arg) | |
| 22 | g.50721037G>A | CA515260984 | SHANK3 | c.2805G>A (p.Leu935=) n.3389G>A c.1857G>A (p.Leu619=) c.1347G>A (p.Leu449=) c.*1803G>A (n.*1803G>A) c.3201G>A (p.Leu1067=) c.3183G>A (p.Leu1061=) | gnomAD v4 |
| 22 | g.50721037G>C | CA515260985 | SHANK3 | c.2805G>C (p.Leu935=) n.3389G>C c.1857G>C (p.Leu619=) c.1347G>C (p.Leu449=) c.*1803G>C (n.*1803G>C) c.3201G>C (p.Leu1067=) c.3183G>C (p.Leu1061=) | dbSNP gnomAD v2 |
| 22 | g.50721037G= | CA2411007992 | SHANK3 | c.2805G= (p.Leu935=) n.3389G= c.1857G= (p.Leu619=) c.1347G= (p.Leu449=) c.*1803G= (n.*1803G=) c.3201G= (p.Leu1067=) c.3183G= (p.Leu1061=) | |
| 22 | g.50721037G>T | CA515260986 | SHANK3 | c.2805G>T (p.Leu935=) n.3389G>T c.1857G>T (p.Leu619=) c.1347G>T (p.Leu449=) c.*1803G>T (n.*1803G>T) c.3201G>T (p.Leu1067=) c.3183G>T (p.Leu1061=) | gnomAD v4 |
| 22 | g.50721038C>A | CA515260987 | SHANK3 | c.2806C>A (p.Leu936Met) n.3390C>A c.1858C>A (p.Leu620Met) c.1348C>A (p.Leu450Met) c.*1804C>A (n.*1804C>A) c.3202C>A (p.Leu1068Met) c.3184C>A (p.Leu1062Met) | |
| 22 | g.50721038C= | CA2411007993 | SHANK3 | c.2806C= (p.Leu936=) n.3390C= c.1858C= (p.Leu620=) c.1348C= (p.Leu450=) c.*1804C= (n.*1804C=) c.3202C= (p.Leu1068=) c.3184C= (p.Leu1062=) | |
| 22 | g.50721038C>G | CA515260988 | SHANK3 | c.2806C>G (p.Leu936Val) n.3390C>G c.1858C>G (p.Leu620Val) c.1348C>G (p.Leu450Val) c.*1804C>G (n.*1804C>G) c.3202C>G (p.Leu1068Val) c.3184C>G (p.Leu1062Val) | gnomAD v4 |
| 22 | g.50721038C>T | CA515260989 | SHANK3 | c.2806C>T (p.Leu936=) n.3390C>T c.1858C>T (p.Leu620=) c.1348C>T (p.Leu450=) c.*1804C>T (n.*1804C>T) c.3202C>T (p.Leu1068=) c.3184C>T (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721039T>A | CA515260990 | SHANK3 | c.2807T>A (p.Leu936Gln) n.3391T>A c.1859T>A (p.Leu620Gln) c.1349T>A (p.Leu450Gln) c.*1805T>A (n.*1805T>A) c.3203T>A (p.Leu1068Gln) c.3185T>A (p.Leu1062Gln) | |
| 22 | g.50721039T>C | CA515260991 | SHANK3 | c.2807T>C (p.Leu936Pro) n.3391T>C c.1859T>C (p.Leu620Pro) c.1349T>C (p.Leu450Pro) c.*1805T>C (n.*1805T>C) c.3203T>C (p.Leu1068Pro) c.3185T>C (p.Leu1062Pro) | |
| 22 | g.50721039T>G | CA515260992 | SHANK3 | c.2807T>G (p.Leu936Arg) n.3391T>G c.1859T>G (p.Leu620Arg) c.1349T>G (p.Leu450Arg) c.*1805T>G (n.*1805T>G) c.3203T>G (p.Leu1068Arg) c.3185T>G (p.Leu1062Arg) | |
| 22 | g.50721040G>A | CA515260993 | SHANK3 | c.2808G>A (p.Leu936=) n.3392G>A c.1860G>A (p.Leu620=) c.1350G>A (p.Leu450=) c.*1806G>A (n.*1806G>A) c.3204G>A (p.Leu1068=) c.3186G>A (p.Leu1062=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721040G>C | CA515260995 | SHANK3 | c.2808G>C (p.Leu936=) n.3392G>C c.1860G>C (p.Leu620=) c.1350G>C (p.Leu450=) c.*1806G>C (n.*1806G>C) c.3204G>C (p.Leu1068=) c.3186G>C (p.Leu1062=) | |
| 22 | g.50721040G= | CA2411007994 | SHANK3 | c.2808G= (p.Leu936=) n.3392G= c.1860G= (p.Leu620=) c.1350G= (p.Leu450=) c.*1806G= (n.*1806G=) c.3204G= (p.Leu1068=) c.3186G= (p.Leu1062=) | |
| 22 | g.50721040G>T | CA515260994 | SHANK3 | c.2808G>T (p.Leu936=) n.3392G>T c.1860G>T (p.Leu620=) c.1350G>T (p.Leu450=) c.*1806G>T (n.*1806G>T) c.3204G>T (p.Leu1068=) c.3186G>T (p.Leu1062=) | gnomAD v4 |
| 22 | g.50721041C>A | CA515260996 | SHANK3 | c.2809C>A (p.Leu937Met) n.3393C>A c.1861C>A (p.Leu621Met) c.1351C>A (p.Leu451Met) c.*1807C>A (n.*1807C>A) c.3205C>A (p.Leu1069Met) c.3187C>A (p.Leu1063Met) | gnomAD v4 |
| 22 | g.50721041C>G | CA515260997 | SHANK3 | c.2809C>G (p.Leu937Val) n.3393C>G c.1861C>G (p.Leu621Val) c.1351C>G (p.Leu451Val) c.*1807C>G (n.*1807C>G) c.3205C>G (p.Leu1069Val) c.3187C>G (p.Leu1063Val) | |
| 22 | g.50721041C>T | CA515260998 | SHANK3 | c.2809C>T (p.Leu937=) n.3393C>T c.1861C>T (p.Leu621=) c.1351C>T (p.Leu451=) c.*1807C>T (n.*1807C>T) c.3205C>T (p.Leu1069=) c.3187C>T (p.Leu1063=) | gnomAD v4 |
| 22 | g.50721048_50721063dup | CA1139667205 | SHANK3 | c.2816_2831dup (p.Lys945ProfsTer?) n.3400_3415dup c.1868_1883dup (p.Lys629ProfsTer?) c.1358_1373dup (p.Lys459ProfsTer?) c.*1814_*1829dup (n.*1814_*1829dup) c.3212_3227dup (p.Lys1077ProfsTer?) c.3194_3209dup (p.Lys1071ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721042T>A | CA515260999 | SHANK3 | c.2810T>A (p.Leu937Gln) n.3394T>A c.1862T>A (p.Leu621Gln) c.1352T>A (p.Leu451Gln) c.*1808T>A (n.*1808T>A) c.3206T>A (p.Leu1069Gln) c.3188T>A (p.Leu1063Gln) | gnomAD v4 |
| 22 | g.50721042T>C | CA515261000 | SHANK3 | c.2810T>C (p.Leu937Pro) n.3394T>C c.1862T>C (p.Leu621Pro) c.1352T>C (p.Leu451Pro) c.*1808T>C (n.*1808T>C) c.3206T>C (p.Leu1069Pro) c.3188T>C (p.Leu1063Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721042T>G | CA515261001 | SHANK3 | c.2810T>G (p.Leu937Arg) n.3394T>G c.1862T>G (p.Leu621Arg) c.1352T>G (p.Leu451Arg) c.*1808T>G (n.*1808T>G) c.3206T>G (p.Leu1069Arg) c.3188T>G (p.Leu1063Arg) | |
| 22 | g.50721042T= | CA2411007995 | SHANK3 | c.2810T= (p.Leu937=) n.3394T= c.1862T= (p.Leu621=) c.1352T= (p.Leu451=) c.*1808T= (n.*1808T=) c.3206T= (p.Leu1069=) c.3188T= (p.Leu1063=) | |
| 22 | g.50721043G>A | CA515261002 | SHANK3 | c.2811G>A (p.Leu937=) n.3395G>A c.1863G>A (p.Leu621=) c.1353G>A (p.Leu451=) c.*1809G>A (n.*1809G>A) c.3207G>A (p.Leu1069=) c.3189G>A (p.Leu1063=) | gnomAD v4 |
| 22 | g.50721043G>C | CA515261003 | SHANK3 | c.2811G>C (p.Leu937=) n.3395G>C c.1863G>C (p.Leu621=) c.1353G>C (p.Leu451=) c.*1809G>C (n.*1809G>C) c.3207G>C (p.Leu1069=) c.3189G>C (p.Leu1063=) | |
| 22 | g.50721043G= | CA2411007996 | SHANK3 | c.2811G= (p.Leu937=) n.3395G= c.1863G= (p.Leu621=) c.1353G= (p.Leu451=) c.*1809G= (n.*1809G=) c.3207G= (p.Leu1069=) c.3189G= (p.Leu1063=) | |
| 22 | g.50721043G>T | CA515261004 | SHANK3 | c.2811G>T (p.Leu937=) n.3395G>T c.1863G>T (p.Leu621=) c.1353G>T (p.Leu451=) c.*1809G>T (n.*1809G>T) c.3207G>T (p.Leu1069=) c.3189G>T (p.Leu1063=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721044C>A | CA515261005 | SHANK3 | c.2812C>A (p.Pro938Thr) n.3396C>A c.1864C>A (p.Pro622Thr) c.1354C>A (p.Pro452Thr) c.*1810C>A (n.*1810C>A) c.3208C>A (p.Pro1070Thr) c.3190C>A (p.Pro1064Thr) | gnomAD v4 |
| 22 | g.50721044C= | CA2411007997 | SHANK3 | c.2812C= (p.Pro938=) n.3396C= c.1864C= (p.Pro622=) c.1354C= (p.Pro452=) c.*1810C= (n.*1810C=) c.3208C= (p.Pro1070=) c.3190C= (p.Pro1064=) | |
| 22 | g.50721044C>G | CA515261006 | SHANK3 | c.2812C>G (p.Pro938Ala) n.3396C>G c.1864C>G (p.Pro622Ala) c.1354C>G (p.Pro452Ala) c.*1810C>G (n.*1810C>G) c.3208C>G (p.Pro1070Ala) c.3190C>G (p.Pro1064Ala) | |
| 22 | g.50721044C>T | CA325578581 | SHANK3 | c.2812C>T (p.Pro938Ser) n.3396C>T c.1864C>T (p.Pro622Ser) c.1354C>T (p.Pro452Ser) c.*1810C>T (n.*1810C>T) c.3208C>T (p.Pro1070Ser) c.3190C>T (p.Pro1064Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721045C>A | CA515261009 | SHANK3 | c.2813C>A (p.Pro938His) n.3397C>A c.1865C>A (p.Pro622His) c.1355C>A (p.Pro452His) c.*1811C>A (n.*1811C>A) c.3209C>A (p.Pro1070His) c.3191C>A (p.Pro1064His) | gnomAD v4 |
| 22 | g.50721045C>G | CA515261008 | SHANK3 | c.2813C>G (p.Pro938Arg) n.3397C>G c.1865C>G (p.Pro622Arg) c.1355C>G (p.Pro452Arg) c.*1811C>G (n.*1811C>G) c.3209C>G (p.Pro1070Arg) c.3191C>G (p.Pro1064Arg) | |
| 22 | g.50721045C>T | CA515261007 | SHANK3 | c.2813C>T (p.Pro938Leu) n.3397C>T c.1865C>T (p.Pro622Leu) c.1355C>T (p.Pro452Leu) c.*1811C>T (n.*1811C>T) c.3209C>T (p.Pro1070Leu) c.3191C>T (p.Pro1064Leu) | gnomAD v4 |
| 22 | g.50721046C>A | CA515261010 | SHANK3 | c.2814C>A (p.Pro938=) n.3398C>A c.1866C>A (p.Pro622=) c.1356C>A (p.Pro452=) c.*1812C>A (n.*1812C>A) c.3210C>A (p.Pro1070=) c.3192C>A (p.Pro1064=) | dbSNP gnomAD v4 |
| 22 | g.50721046C= | CA2411007998 | SHANK3 | c.2814C= (p.Pro938=) n.3398C= c.1866C= (p.Pro622=) c.1356C= (p.Pro452=) c.*1812C= (n.*1812C=) c.3210C= (p.Pro1070=) c.3192C= (p.Pro1064=) | |
| 22 | g.50721046C>G | CA515261011 | SHANK3 | c.2814C>G (p.Pro938=) n.3398C>G c.1866C>G (p.Pro622=) c.1356C>G (p.Pro452=) c.*1812C>G (n.*1812C>G) c.3210C>G (p.Pro1070=) c.3192C>G (p.Pro1064=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721046C>T | CA515261012 | SHANK3 | c.2814C>T (p.Pro938=) n.3398C>T c.1866C>T (p.Pro622=) c.1356C>T (p.Pro452=) c.*1812C>T (n.*1812C>T) c.3210C>T (p.Pro1070=) c.3192C>T (p.Pro1064=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721047T>A | CA515261013 | SHANK3 | c.2815T>A (p.Ser939Thr) n.3399T>A c.1867T>A (p.Ser623Thr) c.1357T>A (p.Ser453Thr) c.*1813T>A (n.*1813T>A) c.3211T>A (p.Ser1071Thr) c.3193T>A (p.Ser1065Thr) | |
| 22 | g.50721047T>C | CA515261014 | SHANK3 | c.2815T>C (p.Ser939Pro) n.3399T>C c.1867T>C (p.Ser623Pro) c.1357T>C (p.Ser453Pro) c.*1813T>C (n.*1813T>C) c.3211T>C (p.Ser1071Pro) c.3193T>C (p.Ser1065Pro) | gnomAD v4 |
| 22 | g.50721047T>G | CA515261015 | SHANK3 | c.2815T>G (p.Ser939Ala) n.3399T>G c.1867T>G (p.Ser623Ala) c.1357T>G (p.Ser453Ala) c.*1813T>G (n.*1813T>G) c.3211T>G (p.Ser1071Ala) c.3193T>G (p.Ser1065Ala) | |
| 22 | g.50721048C>A | CA515261016 | SHANK3 | c.2816C>A (p.Ser939Tyr) n.3400C>A c.1868C>A (p.Ser623Tyr) c.1358C>A (p.Ser453Tyr) c.*1814C>A (n.*1814C>A) c.3212C>A (p.Ser1071Tyr) c.3194C>A (p.Ser1065Tyr) | gnomAD v4 |
| 22 | g.50721048C= | CA2411007999 | SHANK3 | c.2816C= (p.Ser939=) n.3400C= c.1868C= (p.Ser623=) c.1358C= (p.Ser453=) c.*1814C= (n.*1814C=) c.3212C= (p.Ser1071=) c.3194C= (p.Ser1065=) | |
| 22 | g.50721048C>G | CA515261017 | SHANK3 | c.2816C>G (p.Ser939Cys) n.3400C>G c.1868C>G (p.Ser623Cys) c.1358C>G (p.Ser453Cys) c.*1814C>G (n.*1814C>G) c.3212C>G (p.Ser1071Cys) c.3194C>G (p.Ser1065Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721048C>T | CA515261018 | SHANK3 | c.2816C>T (p.Ser939Phe) n.3400C>T c.1868C>T (p.Ser623Phe) c.1358C>T (p.Ser453Phe) c.*1814C>T (n.*1814C>T) c.3212C>T (p.Ser1071Phe) c.3194C>T (p.Ser1065Phe) | gnomAD v4 |
| 22 | g.50721051del | CA2580099978 | SHANK3 | c.2819del (p.Pro940ArgfsTer5) n.3403del c.1871del (p.Pro624ArgfsTer5) c.1361del (p.Pro454ArgfsTer5) c.*1817del (n.*1817del) c.3215del (p.Pro1072ArgfsTer5) c.3197del (p.Pro1066ArgfsTer5) | ClinVar gnomAD v4 |
| 22 | g.50721049C>A | CA515261019 | SHANK3 | c.2817C>A (p.Ser939=) n.3401C>A c.1869C>A (p.Ser623=) c.1359C>A (p.Ser453=) c.*1815C>A (n.*1815C>A) c.3213C>A (p.Ser1071=) c.3195C>A (p.Ser1065=) | dbSNP gnomAD v4 |
| 22 | g.50721049C= | CA2411008000 | SHANK3 | c.2817C= (p.Ser939=) n.3401C= c.1869C= (p.Ser623=) c.1359C= (p.Ser453=) c.*1815C= (n.*1815C=) c.3213C= (p.Ser1071=) c.3195C= (p.Ser1065=) | |
| 22 | g.50721049C>G | CA515261020 | SHANK3 | c.2817C>G (p.Ser939=) n.3401C>G c.1869C>G (p.Ser623=) c.1359C>G (p.Ser453=) c.*1815C>G (n.*1815C>G) c.3213C>G (p.Ser1071=) c.3195C>G (p.Ser1065=) | |
| 22 | g.50721049C>T | CA10325981 | SHANK3 | c.2817C>T (p.Ser939=) n.3401C>T c.1869C>T (p.Ser623=) c.1359C>T (p.Ser453=) c.*1815C>T (n.*1815C>T) c.3213C>T (p.Ser1071=) c.3195C>T (p.Ser1065=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721050C>A | CA515261021 | SHANK3 | c.2818C>A (p.Pro940Thr) n.3402C>A c.1870C>A (p.Pro624Thr) c.1360C>A (p.Pro454Thr) c.*1816C>A (n.*1816C>A) c.3214C>A (p.Pro1072Thr) c.3196C>A (p.Pro1066Thr) | gnomAD v4 |
| 22 | g.50721050C= | CA2411008001 | SHANK3 | c.2818C= (p.Pro940=) n.3402C= c.1870C= (p.Pro624=) c.1360C= (p.Pro454=) c.*1816C= (n.*1816C=) c.3214C= (p.Pro1072=) c.3196C= (p.Pro1066=) | |
| 22 | g.50721050C>G | CA515261023 | SHANK3 | c.2818C>G (p.Pro940Ala) n.3402C>G c.1870C>G (p.Pro624Ala) c.1360C>G (p.Pro454Ala) c.*1816C>G (n.*1816C>G) c.3214C>G (p.Pro1072Ala) c.3196C>G (p.Pro1066Ala) | gnomAD v4 |
| 22 | g.50721050C>T | CA515261022 | SHANK3 | c.2818C>T (p.Pro940Ser) n.3402C>T c.1870C>T (p.Pro624Ser) c.1360C>T (p.Pro454Ser) c.*1816C>T (n.*1816C>T) c.3214C>T (p.Pro1072Ser) c.3196C>T (p.Pro1066Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721051_50721057del | CA2580099980 | SHANK3 | c.2819_2825del (p.Pro940LeufsTer3) n.3403_3409del c.1871_1877del (p.Pro624LeufsTer3) c.1361_1367del (p.Pro454LeufsTer3) c.*1817_*1823del (n.*1817_*1823del) c.3215_3221del (p.Pro1072LeufsTer3) c.3197_3203del (p.Pro1066LeufsTer3) | ClinVar |
| 22 | g.50721051C>A | CA515261024 | SHANK3 | c.2819C>A (p.Pro940Gln) n.3403C>A c.1871C>A (p.Pro624Gln) c.1361C>A (p.Pro454Gln) c.*1817C>A (n.*1817C>A) c.3215C>A (p.Pro1072Gln) c.3197C>A (p.Pro1066Gln) | |
| 22 | g.50721051C= | CA2411008002 | SHANK3 | c.2819C= (p.Pro940=) n.3403C= c.1871C= (p.Pro624=) c.1361C= (p.Pro454=) c.*1817C= (n.*1817C=) c.3215C= (p.Pro1072=) c.3197C= (p.Pro1066=) | |
| 22 | g.50721051C>G | CA10325982 | SHANK3 | c.2819C>G (p.Pro940Arg) n.3403C>G c.1871C>G (p.Pro624Arg) c.1361C>G (p.Pro454Arg) c.*1817C>G (n.*1817C>G) c.3215C>G (p.Pro1072Arg) c.3197C>G (p.Pro1066Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721051C>T | CA515261025 | SHANK3 | c.2819C>T (p.Pro940Leu) n.3403C>T c.1871C>T (p.Pro624Leu) c.1361C>T (p.Pro454Leu) c.*1817C>T (n.*1817C>T) c.3215C>T (p.Pro1072Leu) c.3197C>T (p.Pro1066Leu) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721052G>A | CA10325983 | SHANK3 | c.2820G>A (p.Pro940=) n.3404G>A c.1872G>A (p.Pro624=) c.1362G>A (p.Pro454=) c.*1818G>A (n.*1818G>A) c.3216G>A (p.Pro1072=) c.3198G>A (p.Pro1066=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721052G>C | CA515261026 | SHANK3 | c.2820G>C (p.Pro940=) n.3404G>C c.1872G>C (p.Pro624=) c.1362G>C (p.Pro454=) c.*1818G>C (n.*1818G>C) c.3216G>C (p.Pro1072=) c.3198G>C (p.Pro1066=) | gnomAD v4 |
| 22 | g.50721052G= | CA2411008003 | SHANK3 | c.2820G= (p.Pro940=) n.3404G= c.1872G= (p.Pro624=) c.1362G= (p.Pro454=) c.*1818G= (n.*1818G=) c.3216G= (p.Pro1072=) c.3198G= (p.Pro1066=) | |
| 22 | g.50721052G>T | CA515261027 | SHANK3 | c.2820G>T (p.Pro940=) n.3404G>T c.1872G>T (p.Pro624=) c.1362G>T (p.Pro454=) c.*1818G>T (n.*1818G>T) c.3216G>T (p.Pro1072=) c.3198G>T (p.Pro1066=) | gnomAD v4 |
| 22 | g.50721053G>A | CA515261028 | SHANK3 | c.2821G>A (p.Val941Met) n.3405G>A c.1873G>A (p.Val625Met) c.1363G>A (p.Val455Met) c.*1819G>A (n.*1819G>A) c.3217G>A (p.Val1073Met) c.3199G>A (p.Val1067Met) | |
| 22 | g.50721053G>C | CA10325984 | SHANK3 | c.2821G>C (p.Val941Leu) n.3405G>C c.1873G>C (p.Val625Leu) c.1363G>C (p.Val455Leu) c.*1819G>C (n.*1819G>C) c.3217G>C (p.Val1073Leu) c.3199G>C (p.Val1067Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721053G= | CA2411008004 | SHANK3 | c.2821G= (p.Val941=) n.3405G= c.1873G= (p.Val625=) c.1363G= (p.Val455=) c.*1819G= (n.*1819G=) c.3217G= (p.Val1073=) c.3199G= (p.Val1067=) | |
| 22 | g.50721053G>T | CA515261029 | SHANK3 | c.2821G>T (p.Val941Leu) n.3405G>T c.1873G>T (p.Val625Leu) c.1363G>T (p.Val455Leu) c.*1819G>T (n.*1819G>T) c.3217G>T (p.Val1073Leu) c.3199G>T (p.Val1067Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721054T>A | CA515261032 | SHANK3 | c.2822T>A (p.Val941Glu) n.3406T>A c.1874T>A (p.Val625Glu) c.1364T>A (p.Val455Glu) c.*1820T>A (n.*1820T>A) c.3218T>A (p.Val1073Glu) c.3200T>A (p.Val1067Glu) | |
| 22 | g.50721054T>C | CA515261031 | SHANK3 | c.2822T>C (p.Val941Ala) n.3406T>C c.1874T>C (p.Val625Ala) c.1364T>C (p.Val455Ala) c.*1820T>C (n.*1820T>C) c.3218T>C (p.Val1073Ala) c.3200T>C (p.Val1067Ala) | |
| 22 | g.50721054T>G | CA515261030 | SHANK3 | c.2822T>G (p.Val941Gly) n.3406T>G c.1874T>G (p.Val625Gly) c.1364T>G (p.Val455Gly) c.*1820T>G (n.*1820T>G) c.3218T>G (p.Val1073Gly) c.3200T>G (p.Val1067Gly) | |
| 22 | g.50721055G>A | CA515261033 | SHANK3 | c.2823G>A (p.Val941=) n.3407G>A c.1875G>A (p.Val625=) c.1365G>A (p.Val455=) c.*1821G>A (n.*1821G>A) c.3219G>A (p.Val1073=) c.3201G>A (p.Val1067=) | gnomAD v4 |
| 22 | g.50721055G>C | CA515261034 | SHANK3 | c.2823G>C (p.Val941=) n.3407G>C c.1875G>C (p.Val625=) c.1365G>C (p.Val455=) c.*1821G>C (n.*1821G>C) c.3219G>C (p.Val1073=) c.3201G>C (p.Val1067=) | |
| 22 | g.50721055G>T | CA515261035 | SHANK3 | c.2823G>T (p.Val941=) n.3407G>T c.1875G>T (p.Val625=) c.1365G>T (p.Val455=) c.*1821G>T (n.*1821G>T) c.3219G>T (p.Val1073=) c.3201G>T (p.Val1067=) | |
| 22 | g.50721056T>A | CA515261036 | SHANK3 | c.2824T>A (p.Ser942Thr) n.3408T>A c.1876T>A (p.Ser626Thr) c.1366T>A (p.Ser456Thr) c.*1822T>A (n.*1822T>A) c.3220T>A (p.Ser1074Thr) c.3202T>A (p.Ser1068Thr) | |
| 22 | g.50721056T>C | CA515261037 | SHANK3 | c.2824T>C (p.Ser942Pro) n.3408T>C c.1876T>C (p.Ser626Pro) c.1366T>C (p.Ser456Pro) c.*1822T>C (n.*1822T>C) c.3220T>C (p.Ser1074Pro) c.3202T>C (p.Ser1068Pro) | |
| 22 | g.50721056T>G | CA515261038 | SHANK3 | c.2824T>G (p.Ser942Ala) n.3408T>G c.1876T>G (p.Ser626Ala) c.1366T>G (p.Ser456Ala) c.*1822T>G (n.*1822T>G) c.3220T>G (p.Ser1074Ala) c.3202T>G (p.Ser1068Ala) | |
| 22 | g.50721057C>A | CA515261039 | SHANK3 | c.2825C>A (p.Ser942Tyr) n.3409C>A c.1877C>A (p.Ser626Tyr) c.1367C>A (p.Ser456Tyr) c.*1823C>A (n.*1823C>A) c.3221C>A (p.Ser1074Tyr) c.3203C>A (p.Ser1068Tyr) | |
| 22 | g.50721057C>G | CA515261041 | SHANK3 | c.2825C>G (p.Ser942Cys) n.3409C>G c.1877C>G (p.Ser626Cys) c.1367C>G (p.Ser456Cys) c.*1823C>G (n.*1823C>G) c.3221C>G (p.Ser1074Cys) c.3203C>G (p.Ser1068Cys) | gnomAD v4 |
| 22 | g.50721057C>T | CA515261040 | SHANK3 | c.2825C>T (p.Ser942Phe) n.3409C>T c.1877C>T (p.Ser626Phe) c.1367C>T (p.Ser456Phe) c.*1823C>T (n.*1823C>T) c.3221C>T (p.Ser1074Phe) c.3203C>T (p.Ser1068Phe) | |
| 22 | g.50721058T>A | CA515261042 | SHANK3 | c.2826T>A (p.Ser942=) n.3410T>A c.1878T>A (p.Ser626=) c.1368T>A (p.Ser456=) c.*1824T>A (n.*1824T>A) c.3222T>A (p.Ser1074=) c.3204T>A (p.Ser1068=) | gnomAD v4 |
| 22 | g.50721058T>C | CA515261043 | SHANK3 | c.2826T>C (p.Ser942=) n.3410T>C c.1878T>C (p.Ser626=) c.1368T>C (p.Ser456=) c.*1824T>C (n.*1824T>C) c.3222T>C (p.Ser1074=) c.3204T>C (p.Ser1068=) | gnomAD v4 |
| 22 | g.50721058T>G | CA515261044 | SHANK3 | c.2826T>G (p.Ser942=) n.3410T>G c.1878T>G (p.Ser626=) c.1368T>G (p.Ser456=) c.*1824T>G (n.*1824T>G) c.3222T>G (p.Ser1074=) c.3204T>G (p.Ser1068=) | |
| 22 | g.50721059G>A | CA515261045 | SHANK3 | c.2827G>A (p.Ala943Thr) n.3411G>A c.1879G>A (p.Ala627Thr) c.1369G>A (p.Ala457Thr) c.*1825G>A (n.*1825G>A) c.3223G>A (p.Ala1075Thr) c.3205G>A (p.Ala1069Thr) | gnomAD v4 |
| 22 | g.50721059G>C | CA515261046 | SHANK3 | c.2827G>C (p.Ala943Pro) n.3411G>C c.1879G>C (p.Ala627Pro) c.1369G>C (p.Ala457Pro) c.*1825G>C (n.*1825G>C) c.3223G>C (p.Ala1075Pro) c.3205G>C (p.Ala1069Pro) | |
| 22 | g.50721059G>T | CA515261047 | SHANK3 | c.2827G>T (p.Ala943Ser) n.3411G>T c.1879G>T (p.Ala627Ser) c.1369G>T (p.Ala457Ser) c.*1825G>T (n.*1825G>T) c.3223G>T (p.Ala1075Ser) c.3205G>T (p.Ala1069Ser) | gnomAD v4 |
| 22 | g.50721060C>A | CA515261048 | SHANK3 | c.2828C>A (p.Ala943Asp) n.3412C>A c.1880C>A (p.Ala627Asp) c.1370C>A (p.Ala457Asp) c.*1826C>A (n.*1826C>A) c.3224C>A (p.Ala1075Asp) c.3206C>A (p.Ala1069Asp) | |
| 22 | g.50721060C= | CA2411008005 | SHANK3 | c.2828C= (p.Ala943=) n.3412C= c.1880C= (p.Ala627=) c.1370C= (p.Ala457=) c.*1826C= (n.*1826C=) c.3224C= (p.Ala1075=) c.3206C= (p.Ala1069=) | |
| 22 | g.50721060C>G | CA515261049 | SHANK3 | c.2828C>G (p.Ala943Gly) n.3412C>G c.1880C>G (p.Ala627Gly) c.1370C>G (p.Ala457Gly) c.*1826C>G (n.*1826C>G) c.3224C>G (p.Ala1075Gly) c.3206C>G (p.Ala1069Gly) | |
| 22 | g.50721060C>T | CA515261050 | SHANK3 | c.2828C>T (p.Ala943Val) n.3412C>T c.1880C>T (p.Ala627Val) c.1370C>T (p.Ala457Val) c.*1826C>T (n.*1826C>T) c.3224C>T (p.Ala1075Val) c.3206C>T (p.Ala1069Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721061C>A | CA515261051 | SHANK3 | c.2829C>A (p.Ala943=) n.3413C>A c.1881C>A (p.Ala627=) c.1371C>A (p.Ala457=) c.*1827C>A (n.*1827C>A) c.3225C>A (p.Ala1075=) c.3207C>A (p.Ala1069=) | |
| 22 | g.50721061C= | CA2411008006 | SHANK3 | c.2829C= (p.Ala943=) n.3413C= c.1881C= (p.Ala627=) c.1371C= (p.Ala457=) c.*1827C= (n.*1827C=) c.3225C= (p.Ala1075=) c.3207C= (p.Ala1069=) | |
| 22 | g.50721061C>G | CA515261052 | SHANK3 | c.2829C>G (p.Ala943=) n.3413C>G c.1881C>G (p.Ala627=) c.1371C>G (p.Ala457=) c.*1827C>G (n.*1827C>G) c.3225C>G (p.Ala1075=) c.3207C>G (p.Ala1069=) | gnomAD v4 |
| 22 | g.50721061C>T | CA325578598 | SHANK3 | c.2829C>T (p.Ala943=) n.3413C>T c.1881C>T (p.Ala627=) c.1371C>T (p.Ala457=) c.*1827C>T (n.*1827C>T) c.3225C>T (p.Ala1075=) c.3207C>T (p.Ala1069=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721062C>A | CA515261053 | SHANK3 | c.2830C>A (p.Leu944Met) n.3414C>A c.1882C>A (p.Leu628Met) c.1372C>A (p.Leu458Met) c.*1828C>A (n.*1828C>A) c.3226C>A (p.Leu1076Met) c.3208C>A (p.Leu1070Met) | gnomAD v4 |
| 22 | g.50721062C= | CA2411008007 | SHANK3 | c.2830C= (p.Leu944=) n.3414C= c.1882C= (p.Leu628=) c.1372C= (p.Leu458=) c.*1828C= (n.*1828C=) c.3226C= (p.Leu1076=) c.3208C= (p.Leu1070=) | |
| 22 | g.50721062C>G | CA515261054 | SHANK3 | c.2830C>G (p.Leu944Val) n.3414C>G c.1882C>G (p.Leu628Val) c.1372C>G (p.Leu458Val) c.*1828C>G (n.*1828C>G) c.3226C>G (p.Leu1076Val) c.3208C>G (p.Leu1070Val) | |
| 22 | g.50721062C>T | CA10325985 | SHANK3 | c.2830C>T (p.Leu944=) n.3414C>T c.1882C>T (p.Leu628=) c.1372C>T (p.Leu458=) c.*1828C>T (n.*1828C>T) c.3226C>T (p.Leu1076=) c.3208C>T (p.Leu1070=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721063T>A | CA515261055 | SHANK3 | c.2831T>A (p.Leu944Gln) n.3415T>A c.1883T>A (p.Leu628Gln) c.1373T>A (p.Leu458Gln) c.*1829T>A (n.*1829T>A) c.3227T>A (p.Leu1076Gln) c.3209T>A (p.Leu1070Gln) | ClinVar |
| 22 | g.50721063T>C | CA10325986 | SHANK3 | c.2831T>C (p.Leu944Pro) n.3415T>C c.1883T>C (p.Leu628Pro) c.1373T>C (p.Leu458Pro) c.*1829T>C (n.*1829T>C) c.3227T>C (p.Leu1076Pro) c.3209T>C (p.Leu1070Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721063T>G | CA515261056 | SHANK3 | c.2831T>G (p.Leu944Arg) n.3415T>G c.1883T>G (p.Leu628Arg) c.1373T>G (p.Leu458Arg) c.*1829T>G (n.*1829T>G) c.3227T>G (p.Leu1076Arg) c.3209T>G (p.Leu1070Arg) | |
| 22 | g.50721063T= | CA2411008008 | SHANK3 | c.2831T= (p.Leu944=) n.3415T= c.1883T= (p.Leu628=) c.1373T= (p.Leu458=) c.*1829T= (n.*1829T=) c.3227T= (p.Leu1076=) c.3209T= (p.Leu1070=) | |
| 22 | g.50721064G>A | CA515261057 | SHANK3 | c.2832G>A (p.Leu944=) n.3416G>A c.1884G>A (p.Leu628=) c.1374G>A (p.Leu458=) c.*1830G>A (n.*1830G>A) c.3228G>A (p.Leu1076=) c.3210G>A (p.Leu1070=) | gnomAD v4 |
| 22 | g.50721064G>C | CA515261058 | SHANK3 | c.2832G>C (p.Leu944=) n.3416G>C c.1884G>C (p.Leu628=) c.1374G>C (p.Leu458=) c.*1830G>C (n.*1830G>C) c.3228G>C (p.Leu1076=) c.3210G>C (p.Leu1070=) | |
| 22 | g.50721064G>T | CA515261059 | SHANK3 | c.2832G>T (p.Leu944=) n.3416G>T c.1884G>T (p.Leu628=) c.1374G>T (p.Leu458=) c.*1830G>T (n.*1830G>T) c.3228G>T (p.Leu1076=) c.3210G>T (p.Leu1070=) | |
| 22 | g.50721065A= | CA2411008009 | SHANK3 | c.2833A= (p.Lys945=) n.3417A= c.1885A= (p.Lys629=) c.1375A= (p.Lys459=) c.*1831A= (n.*1831A=) c.3229A= (p.Lys1077=) c.3211A= (p.Lys1071=) | |
| 22 | g.50721065A>C | CA515261060 | SHANK3 | c.2833A>C (p.Lys945Gln) n.3417A>C c.1885A>C (p.Lys629Gln) c.1375A>C (p.Lys459Gln) c.*1831A>C (n.*1831A>C) c.3229A>C (p.Lys1077Gln) c.3211A>C (p.Lys1071Gln) | |
| 22 | g.50721065A>G | CA515261061 | SHANK3 | c.2833A>G (p.Lys945Glu) n.3417A>G c.1885A>G (p.Lys629Glu) c.1375A>G (p.Lys459Glu) c.*1831A>G (n.*1831A>G) c.3229A>G (p.Lys1077Glu) c.3211A>G (p.Lys1071Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721065A>T | CA515261062 | SHANK3 | c.2833A>T (p.Lys945Ter) n.3417A>T c.1885A>T (p.Lys629Ter) c.1375A>T (p.Lys459Ter) c.*1831A>T (n.*1831A>T) c.3229A>T (p.Lys1077Ter) c.3211A>T (p.Lys1071Ter) | |
| 22 | g.50721066A>C | CA515261063 | SHANK3 | c.2834A>C (p.Lys945Thr) n.3418A>C c.1886A>C (p.Lys629Thr) c.1376A>C (p.Lys459Thr) c.*1832A>C (n.*1832A>C) c.3230A>C (p.Lys1077Thr) c.3212A>C (p.Lys1071Thr) | |
| 22 | g.50721066A>G | CA515261064 | SHANK3 | c.2834A>G (p.Lys945Arg) n.3418A>G c.1886A>G (p.Lys629Arg) c.1376A>G (p.Lys459Arg) c.*1832A>G (n.*1832A>G) c.3230A>G (p.Lys1077Arg) c.3212A>G (p.Lys1071Arg) | |
| 22 | g.50721066A>T | CA515261065 | SHANK3 | c.2834A>T (p.Lys945Met) n.3418A>T c.1886A>T (p.Lys629Met) c.1376A>T (p.Lys459Met) c.*1832A>T (n.*1832A>T) c.3230A>T (p.Lys1077Met) c.3212A>T (p.Lys1071Met) | |
| 22 | g.50721067G>A | CA515261068 | SHANK3 | c.2835G>A (p.Lys945=) n.3419G>A c.1887G>A (p.Lys629=) c.1377G>A (p.Lys459=) c.*1833G>A (n.*1833G>A) c.3231G>A (p.Lys1077=) c.3213G>A (p.Lys1071=) | gnomAD v4 |
| 22 | g.50721067G>C | CA515261067 | SHANK3 | c.2835G>C (p.Lys945Asn) n.3419G>C c.1887G>C (p.Lys629Asn) c.1377G>C (p.Lys459Asn) c.*1833G>C (n.*1833G>C) c.3231G>C (p.Lys1077Asn) c.3213G>C (p.Lys1071Asn) | |
| 22 | g.50721067G>T | CA515261066 | SHANK3 | c.2835G>T (p.Lys945Asn) n.3419G>T c.1887G>T (p.Lys629Asn) c.1377G>T (p.Lys459Asn) c.*1833G>T (n.*1833G>T) c.3231G>T (p.Lys1077Asn) c.3213G>T (p.Lys1071Asn) | gnomAD v4 |
| 22 | g.50721068C>A | CA515261069 | SHANK3 | c.2836C>A (p.Pro946Thr) n.3420C>A c.1888C>A (p.Pro630Thr) c.1378C>A (p.Pro460Thr) c.*1834C>A (n.*1834C>A) c.3232C>A (p.Pro1078Thr) c.3214C>A (p.Pro1072Thr) | gnomAD v4 |
| 22 | g.50721068C= | CA2411008010 | SHANK3 | c.2836C= (p.Pro946=) n.3420C= c.1888C= (p.Pro630=) c.1378C= (p.Pro460=) c.*1834C= (n.*1834C=) c.3232C= (p.Pro1078=) c.3214C= (p.Pro1072=) | |
| 22 | g.50721068C>G | CA515261070 | SHANK3 | c.2836C>G (p.Pro946Ala) n.3420C>G c.1888C>G (p.Pro630Ala) c.1378C>G (p.Pro460Ala) c.*1834C>G (n.*1834C>G) c.3232C>G (p.Pro1078Ala) c.3214C>G (p.Pro1072Ala) | |
| 22 | g.50721068C>T | CA10325987 | SHANK3 | c.2836C>T (p.Pro946Ser) n.3420C>T c.1888C>T (p.Pro630Ser) c.1378C>T (p.Pro460Ser) c.*1834C>T (n.*1834C>T) c.3232C>T (p.Pro1078Ser) c.3214C>T (p.Pro1072Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721069C>A | CA515261071 | SHANK3 | c.2837C>A (p.Pro946Gln) n.3421C>A c.1889C>A (p.Pro630Gln) c.1379C>A (p.Pro460Gln) c.*1835C>A (n.*1835C>A) c.3233C>A (p.Pro1078Gln) c.3215C>A (p.Pro1072Gln) | gnomAD v4 |
| 22 | g.50721069C>G | CA515261072 | SHANK3 | c.2837C>G (p.Pro946Arg) n.3421C>G c.1889C>G (p.Pro630Arg) c.1379C>G (p.Pro460Arg) c.*1835C>G (n.*1835C>G) c.3233C>G (p.Pro1078Arg) c.3215C>G (p.Pro1072Arg) | |
| 22 | g.50721069C>T | CA515261073 | SHANK3 | c.2837C>T (p.Pro946Leu) n.3421C>T c.1889C>T (p.Pro630Leu) c.1379C>T (p.Pro460Leu) c.*1835C>T (n.*1835C>T) c.3233C>T (p.Pro1078Leu) c.3215C>T (p.Pro1072Leu) | gnomAD v4 |
| 22 | g.50721070G>A | CA515261074 | SHANK3 | c.2838G>A (p.Pro946=) n.3422G>A c.1890G>A (p.Pro630=) c.1380G>A (p.Pro460=) c.*1836G>A (n.*1836G>A) c.3234G>A (p.Pro1078=) c.3216G>A (p.Pro1072=) | dbSNP |
| 22 | g.50721070G>C | CA515261075 | SHANK3 | c.2838G>C (p.Pro946=) n.3422G>C c.1890G>C (p.Pro630=) c.1380G>C (p.Pro460=) c.*1836G>C (n.*1836G>C) c.3234G>C (p.Pro1078=) c.3216G>C (p.Pro1072=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721070G= | CA2411008011 | SHANK3 | c.2838G= (p.Pro946=) n.3422G= c.1890G= (p.Pro630=) c.1380G= (p.Pro460=) c.*1836G= (n.*1836G=) c.3234G= (p.Pro1078=) c.3216G= (p.Pro1072=) | |
| 22 | g.50721070G>T | CA515261076 | SHANK3 | c.2838G>T (p.Pro946=) n.3422G>T c.1890G>T (p.Pro630=) c.1380G>T (p.Pro460=) c.*1836G>T (n.*1836G>T) c.3234G>T (p.Pro1078=) c.3216G>T (p.Pro1072=) | gnomAD v4 |
| 22 | g.50721071T>A | CA515261077 | SHANK3 | c.2839T>A (p.Leu947Met) n.3423T>A c.1891T>A (p.Leu631Met) c.1381T>A (p.Leu461Met) c.*1837T>A (n.*1837T>A) c.3235T>A (p.Leu1079Met) c.3217T>A (p.Leu1073Met) | |
| 22 | g.50721071T>C | CA515261078 | SHANK3 | c.2839T>C (p.Leu947=) n.3423T>C c.1891T>C (p.Leu631=) c.1381T>C (p.Leu461=) c.*1837T>C (n.*1837T>C) c.3235T>C (p.Leu1079=) c.3217T>C (p.Leu1073=) | dbSNP |
| 22 | g.50721071T>G | CA515261079 | SHANK3 | c.2839T>G (p.Leu947Val) n.3423T>G c.1891T>G (p.Leu631Val) c.1381T>G (p.Leu461Val) c.*1837T>G (n.*1837T>G) c.3235T>G (p.Leu1079Val) c.3217T>G (p.Leu1073Val) | |
| 22 | g.50721071T= | CA2411008012 | SHANK3 | c.2839T= (p.Leu947=) n.3423T= c.1891T= (p.Leu631=) c.1381T= (p.Leu461=) c.*1837T= (n.*1837T=) c.3235T= (p.Leu1079=) c.3217T= (p.Leu1073=) | |
| 22 | g.50721072T>A | CA515261080 | SHANK3 | c.2840T>A (p.Leu947Ter) n.3424T>A c.1892T>A (p.Leu631Ter) c.1382T>A (p.Leu461Ter) c.*1838T>A (n.*1838T>A) c.3236T>A (p.Leu1079Ter) c.3218T>A (p.Leu1073Ter) | |
| 22 | g.50721072T>C | CA515261082 | SHANK3 | c.2840T>C (p.Leu947Ser) n.3424T>C c.1892T>C (p.Leu631Ser) c.1382T>C (p.Leu461Ser) c.*1838T>C (n.*1838T>C) c.3236T>C (p.Leu1079Ser) c.3218T>C (p.Leu1073Ser) | |
| 22 | g.50721072T>G | CA515261081 | SHANK3 | c.2840T>G (p.Leu947Trp) n.3424T>G c.1892T>G (p.Leu631Trp) c.1382T>G (p.Leu461Trp) c.*1838T>G (n.*1838T>G) c.3236T>G (p.Leu1079Trp) c.3218T>G (p.Leu1073Trp) | |
| 22 | g.50721073G>A | CA515261083 | SHANK3 | c.2841G>A (p.Leu947=) n.3425G>A c.1893G>A (p.Leu631=) c.1383G>A (p.Leu461=) c.*1839G>A (n.*1839G>A) c.3237G>A (p.Leu1079=) c.3219G>A (p.Leu1073=) | |
| 22 | g.50721073G>C | CA515261084 | SHANK3 | c.2841G>C (p.Leu947Phe) n.3425G>C c.1893G>C (p.Leu631Phe) c.1383G>C (p.Leu461Phe) c.*1839G>C (n.*1839G>C) c.3237G>C (p.Leu1079Phe) c.3219G>C (p.Leu1073Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721073G= | CA2411008013 | SHANK3 | c.2841G= (p.Leu947=) n.3425G= c.1893G= (p.Leu631=) c.1383G= (p.Leu461=) c.*1839G= (n.*1839G=) c.3237G= (p.Leu1079=) c.3219G= (p.Leu1073=) | |
| 22 | g.50721073G>T | CA10325988 | SHANK3 | c.2841G>T (p.Leu947Phe) n.3425G>T c.1893G>T (p.Leu631Phe) c.1383G>T (p.Leu461Phe) c.*1839G>T (n.*1839G>T) c.3237G>T (p.Leu1079Phe) c.3219G>T (p.Leu1073Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721074G>A | CA515261085 | SHANK3 | c.2842G>A (p.Val948Ile) n.3426G>A c.1894G>A (p.Val632Ile) c.1384G>A (p.Val462Ile) c.*1840G>A (n.*1840G>A) c.3238G>A (p.Val1080Ile) c.3220G>A (p.Val1074Ile) | |
| 22 | g.50721074G>C | CA515261086 | SHANK3 | c.2842G>C (p.Val948Leu) n.3426G>C c.1894G>C (p.Val632Leu) c.1384G>C (p.Val462Leu) c.*1840G>C (n.*1840G>C) c.3238G>C (p.Val1080Leu) c.3220G>C (p.Val1074Leu) | |
| 22 | g.50721074G>T | CA515261087 | SHANK3 | c.2842G>T (p.Val948Phe) n.3426G>T c.1894G>T (p.Val632Phe) c.1384G>T (p.Val462Phe) c.*1840G>T (n.*1840G>T) c.3238G>T (p.Val1080Phe) c.3220G>T (p.Val1074Phe) | gnomAD v4 |
| 22 | g.50721075T>A | CA515261088 | SHANK3 | c.2843T>A (p.Val948Asp) n.3427T>A c.1895T>A (p.Val632Asp) c.1385T>A (p.Val462Asp) c.*1841T>A (n.*1841T>A) c.3239T>A (p.Val1080Asp) c.3221T>A (p.Val1074Asp) | |
| 22 | g.50721075T>C | CA515261089 | SHANK3 | c.2843T>C (p.Val948Ala) n.3427T>C c.1895T>C (p.Val632Ala) c.1385T>C (p.Val462Ala) c.*1841T>C (n.*1841T>C) c.3239T>C (p.Val1080Ala) c.3221T>C (p.Val1074Ala) | |
| 22 | g.50721075T>G | CA515261090 | SHANK3 | c.2843T>G (p.Val948Gly) n.3427T>G c.1895T>G (p.Val632Gly) c.1385T>G (p.Val462Gly) c.*1841T>G (n.*1841T>G) c.3239T>G (p.Val1080Gly) c.3221T>G (p.Val1074Gly) | |
| 22 | g.50721076C>A | CA515261091 | SHANK3 | c.2844C>A (p.Val948=) n.3428C>A c.1896C>A (p.Val632=) c.1386C>A (p.Val462=) c.*1842C>A (n.*1842C>A) c.3240C>A (p.Val1080=) c.3222C>A (p.Val1074=) | gnomAD v4 |
| 22 | g.50721076C= | CA2411008014 | SHANK3 | c.2844C= (p.Val948=) n.3428C= c.1896C= (p.Val632=) c.1386C= (p.Val462=) c.*1842C= (n.*1842C=) c.3240C= (p.Val1080=) c.3222C= (p.Val1074=) | |
| 22 | g.50721076C>G | CA515261092 | SHANK3 | c.2844C>G (p.Val948=) n.3428C>G c.1896C>G (p.Val632=) c.1386C>G (p.Val462=) c.*1842C>G (n.*1842C>G) c.3240C>G (p.Val1080=) c.3222C>G (p.Val1074=) | |
| 22 | g.50721076C>T | CA325578632 | SHANK3 | c.2844C>T (p.Val948=) n.3428C>T c.1896C>T (p.Val632=) c.1386C>T (p.Val462=) c.*1842C>T (n.*1842C>T) c.3240C>T (p.Val1080=) c.3222C>T (p.Val1074=) | dbSNP gnomAD v4 |
| 22 | g.50721077A= | CA2411008015 | SHANK3 | c.2845A= (p.Ser949=) n.3429A= c.1897A= (p.Ser633=) c.1387A= (p.Ser463=) c.*1843A= (n.*1843A=) c.3241A= (p.Ser1081=) c.3223A= (p.Ser1075=) | |
| 22 | g.50721077A>C | CA515261093 | SHANK3 | c.2845A>C (p.Ser949Arg) n.3429A>C c.1897A>C (p.Ser633Arg) c.1387A>C (p.Ser463Arg) c.*1843A>C (n.*1843A>C) c.3241A>C (p.Ser1081Arg) c.3223A>C (p.Ser1075Arg) | |
| 22 | g.50721077A>G | CA10325989 | SHANK3 | c.2845A>G (p.Ser949Gly) n.3429A>G c.1897A>G (p.Ser633Gly) c.1387A>G (p.Ser463Gly) c.*1843A>G (n.*1843A>G) c.3241A>G (p.Ser1081Gly) c.3223A>G (p.Ser1075Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721077A>T | CA515261094 | SHANK3 | c.2845A>T (p.Ser949Cys) n.3429A>T c.1897A>T (p.Ser633Cys) c.1387A>T (p.Ser463Cys) c.*1843A>T (n.*1843A>T) c.3241A>T (p.Ser1081Cys) c.3223A>T (p.Ser1075Cys) | |
| 22 | g.50721078G>A | CA515261095 | SHANK3 | c.2846G>A (p.Ser949Asn) n.3430G>A c.1898G>A (p.Ser633Asn) c.1388G>A (p.Ser463Asn) c.*1844G>A (n.*1844G>A) c.3242G>A (p.Ser1081Asn) c.3224G>A (p.Ser1075Asn) | |
| 22 | g.50721078G>C | CA515261097 | SHANK3 | c.2846G>C (p.Ser949Thr) n.3430G>C c.1898G>C (p.Ser633Thr) c.1388G>C (p.Ser463Thr) c.*1844G>C (n.*1844G>C) c.3242G>C (p.Ser1081Thr) c.3224G>C (p.Ser1075Thr) | |
| 22 | g.50721078G>T | CA515261096 | SHANK3 | c.2846G>T (p.Ser949Ile) n.3430G>T c.1898G>T (p.Ser633Ile) c.1388G>T (p.Ser463Ile) c.*1844G>T (n.*1844G>T) c.3242G>T (p.Ser1081Ile) c.3224G>T (p.Ser1075Ile) | gnomAD v4 |
| 22 | g.50721079C>A | CA515261098 | SHANK3 | c.2847C>A (p.Ser949Arg) n.3431C>A c.1899C>A (p.Ser633Arg) c.1389C>A (p.Ser463Arg) c.*1845C>A (n.*1845C>A) c.3243C>A (p.Ser1081Arg) c.3225C>A (p.Ser1075Arg) | gnomAD v4 |
| 22 | g.50721079C= | CA2411008016 | SHANK3 | c.2847C= (p.Ser949=) n.3431C= c.1899C= (p.Ser633=) c.1389C= (p.Ser463=) c.*1845C= (n.*1845C=) c.3243C= (p.Ser1081=) c.3225C= (p.Ser1075=) | |
| 22 | g.50721079C>G | CA515261099 | SHANK3 | c.2847C>G (p.Ser949Arg) n.3431C>G c.1899C>G (p.Ser633Arg) c.1389C>G (p.Ser463Arg) c.*1845C>G (n.*1845C>G) c.3243C>G (p.Ser1081Arg) c.3225C>G (p.Ser1075Arg) | gnomAD v4 |
| 22 | g.50721079C>T | CA515261100 | SHANK3 | c.2847C>T (p.Ser949=) n.3431C>T c.1899C>T (p.Ser633=) c.1389C>T (p.Ser463=) c.*1845C>T (n.*1845C>T) c.3243C>T (p.Ser1081=) c.3225C>T (p.Ser1075=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721080G>A | CA325578637 | SHANK3 | c.2848G>A (p.Gly950Ser) n.3432G>A c.1900G>A (p.Gly634Ser) c.1390G>A (p.Gly464Ser) c.*1846G>A (n.*1846G>A) c.3244G>A (p.Gly1082Ser) c.3226G>A (p.Gly1076Ser) | dbSNP gnomAD v4 |
| 22 | g.50721080G>C | CA515261101 | SHANK3 | c.2848G>C (p.Gly950Arg) n.3432G>C c.1900G>C (p.Gly634Arg) c.1390G>C (p.Gly464Arg) c.*1846G>C (n.*1846G>C) c.3244G>C (p.Gly1082Arg) c.3226G>C (p.Gly1076Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721080G= | CA2411008017 | SHANK3 | c.2848G= (p.Gly950=) n.3432G= c.1900G= (p.Gly634=) c.1390G= (p.Gly464=) c.*1846G= (n.*1846G=) c.3244G= (p.Gly1082=) c.3226G= (p.Gly1076=) | |
| 22 | g.50721080G>T | CA515261102 | SHANK3 | c.2848G>T (p.Gly950Cys) n.3432G>T c.1900G>T (p.Gly634Cys) c.1390G>T (p.Gly464Cys) c.*1846G>T (n.*1846G>T) c.3244G>T (p.Gly1082Cys) c.3226G>T (p.Gly1076Cys) | gnomAD v4 |
| 22 | g.50721081G>A | CA515261103 | SHANK3 | c.2849G>A (p.Gly950Asp) n.3433G>A c.1901G>A (p.Gly634Asp) c.1391G>A (p.Gly464Asp) c.*1847G>A (n.*1847G>A) c.3245G>A (p.Gly1082Asp) c.3227G>A (p.Gly1076Asp) | gnomAD v4 |
| 22 | g.50721081G>C | CA515261104 | SHANK3 | c.2849G>C (p.Gly950Ala) n.3433G>C c.1901G>C (p.Gly634Ala) c.1391G>C (p.Gly464Ala) c.*1847G>C (n.*1847G>C) c.3245G>C (p.Gly1082Ala) c.3227G>C (p.Gly1076Ala) | |
| 22 | g.50721081G>T | CA515261105 | SHANK3 | c.2849G>T (p.Gly950Val) n.3433G>T c.1901G>T (p.Gly634Val) c.1391G>T (p.Gly464Val) c.*1847G>T (n.*1847G>T) c.3245G>T (p.Gly1082Val) c.3227G>T (p.Gly1076Val) | gnomAD v4 |
| 22 | g.50721082C>A | CA515261107 | SHANK3 | c.2850C>A (p.Gly950=) n.3434C>A c.1902C>A (p.Gly634=) c.1392C>A (p.Gly464=) c.*1848C>A (n.*1848C>A) c.3246C>A (p.Gly1082=) c.3228C>A (p.Gly1076=) | gnomAD v4 |
| 22 | g.50721082C= | CA2411008018 | SHANK3 | c.2850C= (p.Gly950=) n.3434C= c.1902C= (p.Gly634=) c.1392C= (p.Gly464=) c.*1848C= (n.*1848C=) c.3246C= (p.Gly1082=) c.3228C= (p.Gly1076=) | |
| 22 | g.50721082C>G | CA515261108 | SHANK3 | c.2850C>G (p.Gly950=) n.3434C>G c.1902C>G (p.Gly634=) c.1392C>G (p.Gly464=) c.*1848C>G (n.*1848C>G) c.3246C>G (p.Gly1082=) c.3228C>G (p.Gly1076=) | |
| 22 | g.50721082C>T | CA515261106 | SHANK3 | c.2850C>T (p.Gly950=) n.3434C>T c.1902C>T (p.Gly634=) c.1392C>T (p.Gly464=) c.*1848C>T (n.*1848C>T) c.3246C>T (p.Gly1082=) c.3228C>T (p.Gly1076=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721083C>A | CA515261109 | SHANK3 | c.2851C>A (p.Pro951Thr) n.3435C>A c.1903C>A (p.Pro635Thr) c.1393C>A (p.Pro465Thr) c.*1849C>A (n.*1849C>A) c.3247C>A (p.Pro1083Thr) c.3229C>A (p.Pro1077Thr) | |
| 22 | g.50721083C= | CA2411008019 | SHANK3 | c.2851C= (p.Pro951=) n.3435C= c.1903C= (p.Pro635=) c.1393C= (p.Pro465=) c.*1849C= (n.*1849C=) c.3247C= (p.Pro1083=) c.3229C= (p.Pro1077=) | |
| 22 | g.50721083C>G | CA515261110 | SHANK3 | c.2851C>G (p.Pro951Ala) n.3435C>G c.1903C>G (p.Pro635Ala) c.1393C>G (p.Pro465Ala) c.*1849C>G (n.*1849C>G) c.3247C>G (p.Pro1083Ala) c.3229C>G (p.Pro1077Ala) | dbSNP |
| 22 | g.50721083C>T | CA515261111 | SHANK3 | c.2851C>T (p.Pro951Ser) n.3435C>T c.1903C>T (p.Pro635Ser) c.1393C>T (p.Pro465Ser) c.*1849C>T (n.*1849C>T) c.3247C>T (p.Pro1083Ser) c.3229C>T (p.Pro1077Ser) | gnomAD v4 |
| 22 | g.50721084C>A | CA515261112 | SHANK3 | c.2852C>A (p.Pro951Gln) n.3436C>A c.1904C>A (p.Pro635Gln) c.1394C>A (p.Pro465Gln) c.*1850C>A (n.*1850C>A) c.3248C>A (p.Pro1083Gln) c.3230C>A (p.Pro1077Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721084C= | CA2411008020 | SHANK3 | c.2852C= (p.Pro951=) n.3436C= c.1904C= (p.Pro635=) c.1394C= (p.Pro465=) c.*1850C= (n.*1850C=) c.3248C= (p.Pro1083=) c.3230C= (p.Pro1077=) | |
| 22 | g.50721084C>G | CA515261113 | SHANK3 | c.2852C>G (p.Pro951Arg) n.3436C>G c.1904C>G (p.Pro635Arg) c.1394C>G (p.Pro465Arg) c.*1850C>G (n.*1850C>G) c.3248C>G (p.Pro1083Arg) c.3230C>G (p.Pro1077Arg) | dbSNP gnomAD v4 |
| 22 | g.50721084C>T | CA515261114 | SHANK3 | c.2852C>T (p.Pro951Leu) n.3436C>T c.1904C>T (p.Pro635Leu) c.1394C>T (p.Pro465Leu) c.*1850C>T (n.*1850C>T) c.3248C>T (p.Pro1083Leu) c.3230C>T (p.Pro1077Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721085G>A | CA10325990 | SHANK3 | c.2853G>A (p.Pro951=) n.3437G>A c.1905G>A (p.Pro635=) c.1395G>A (p.Pro465=) c.*1851G>A (n.*1851G>A) c.3249G>A (p.Pro1083=) c.3231G>A (p.Pro1077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721085G>C | CA515261115 | SHANK3 | c.2853G>C (p.Pro951=) n.3437G>C c.1905G>C (p.Pro635=) c.1395G>C (p.Pro465=) c.*1851G>C (n.*1851G>C) c.3249G>C (p.Pro1083=) c.3231G>C (p.Pro1077=) | gnomAD v4 |
| 22 | g.50721085G= | CA2411008021 | SHANK3 | c.2853G= (p.Pro951=) n.3437G= c.1905G= (p.Pro635=) c.1395G= (p.Pro465=) c.*1851G= (n.*1851G=) c.3249G= (p.Pro1083=) c.3231G= (p.Pro1077=) | |
| 22 | g.50721085G>T | CA515261116 | SHANK3 | c.2853G>T (p.Pro951=) n.3437G>T c.1905G>T (p.Pro635=) c.1395G>T (p.Pro465=) c.*1851G>T (n.*1851G>T) c.3249G>T (p.Pro1083=) c.3231G>T (p.Pro1077=) | gnomAD v4 |
| 22 | g.50721086A= | CA2411008023 | SHANK3 | c.2854A= (p.Ser952=) n.3438A= c.1906A= (p.Ser636=) c.1396A= (p.Ser466=) c.*1852A= (n.*1852A=) c.3250A= (p.Ser1084=) c.3232A= (p.Ser1078=) | |
| 22 | g.50721086A>C | CA515261117 | SHANK3 | c.2854A>C (p.Ser952Arg) n.3438A>C c.1906A>C (p.Ser636Arg) c.1396A>C (p.Ser466Arg) c.*1852A>C (n.*1852A>C) c.3250A>C (p.Ser1084Arg) c.3232A>C (p.Ser1078Arg) | |
| 22 | g.50721086A>G | CA515261118 | SHANK3 | c.2854A>G (p.Ser952Gly) n.3438A>G c.1906A>G (p.Ser636Gly) c.1396A>G (p.Ser466Gly) c.*1852A>G (n.*1852A>G) c.3250A>G (p.Ser1084Gly) c.3232A>G (p.Ser1078Gly) | |
| 22 | g.50721086A>T | CA515261119 | SHANK3 | c.2854A>T (p.Ser952Cys) n.3438A>T c.1906A>T (p.Ser636Cys) c.1396A>T (p.Ser466Cys) c.*1852A>T (n.*1852A>T) c.3250A>T (p.Ser1084Cys) c.3232A>T (p.Ser1078Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721086_50721091delinsAGCCTG | CA2411008022 | SHANK3 | c.2854_2859delinsAGCCTG (p.Ser952=) n.3438_3443delinsAGCCTG c.1906_1911delinsAGCCTG (p.Ser636=) c.1396_1401delinsAGCCTG (p.Ser466=) c.*1852_*1857delinsAGCCTG (n.*1852_*1857delinsAGCCTG) c.3250_3255delinsAGCCTG (p.Ser1084=) c.3232_3237delinsAGCCTG (p.Ser1078=) | |
| 22 | g.50721087G>A | CA515261122 | SHANK3 | c.2855G>A (p.Ser952Asn) n.3439G>A c.1907G>A (p.Ser636Asn) c.1397G>A (p.Ser466Asn) c.*1853G>A (n.*1853G>A) c.3251G>A (p.Ser1084Asn) c.3233G>A (p.Ser1078Asn) | dbSNP gnomAD v4 |
| 22 | g.50721087G>C | CA515261120 | SHANK3 | c.2855G>C (p.Ser952Thr) n.3439G>C c.1907G>C (p.Ser636Thr) c.1397G>C (p.Ser466Thr) c.*1853G>C (n.*1853G>C) c.3251G>C (p.Ser1084Thr) c.3233G>C (p.Ser1078Thr) | gnomAD v4 |
| 22 | g.50721087G= | CA2411008024 | SHANK3 | c.2855G= (p.Ser952=) n.3439G= c.1907G= (p.Ser636=) c.1397G= (p.Ser466=) c.*1853G= (n.*1853G=) c.3251G= (p.Ser1084=) c.3233G= (p.Ser1078=) | |
| 22 | g.50721087G>T | CA515261121 | SHANK3 | c.2855G>T (p.Ser952Ile) n.3439G>T c.1907G>T (p.Ser636Ile) c.1397G>T (p.Ser466Ile) c.*1853G>T (n.*1853G>T) c.3251G>T (p.Ser1084Ile) c.3233G>T (p.Ser1078Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721088_50721092del | CA16621140 | SHANK3 | c.2856_2860del (p.Ser952ArgfsTer?) n.3440_3444del c.1908_1912del (p.Ser636ArgfsTer?) c.1398_1402del (p.Ser466ArgfsTer?) c.*1854_*1858del (n.*1854_*1858del) c.3252_3256del (p.Ser1084ArgfsTer?) c.3234_3238del (p.Ser1078ArgfsTer?) | ClinVar dbSNP |
| 22 | g.50721088C>A | CA515261123 | SHANK3 | c.2856C>A (p.Ser952Arg) n.3440C>A c.1908C>A (p.Ser636Arg) c.1398C>A (p.Ser466Arg) c.*1854C>A (n.*1854C>A) c.3252C>A (p.Ser1084Arg) c.3234C>A (p.Ser1078Arg) | gnomAD v4 |
| 22 | g.50721088C>G | CA515261124 | SHANK3 | c.2856C>G (p.Ser952Arg) n.3440C>G c.1908C>G (p.Ser636Arg) c.1398C>G (p.Ser466Arg) c.*1854C>G (n.*1854C>G) c.3252C>G (p.Ser1084Arg) c.3234C>G (p.Ser1078Arg) | gnomAD v4 |
| 22 | g.50721088C>T | CA515261125 | SHANK3 | c.2856C>T (p.Ser952=) n.3440C>T c.1908C>T (p.Ser636=) c.1398C>T (p.Ser466=) c.*1854C>T (n.*1854C>T) c.3252C>T (p.Ser1084=) c.3234C>T (p.Ser1078=) | gnomAD v4 |
| 22 | g.50721089C>A | CA515261126 | SHANK3 | c.2857C>A (p.Leu953Met) n.3441C>A c.1909C>A (p.Leu637Met) c.1399C>A (p.Leu467Met) c.*1855C>A (n.*1855C>A) c.3253C>A (p.Leu1085Met) c.3235C>A (p.Leu1079Met) | gnomAD v4 |
| 22 | g.50721089C= | CA2411008025 | SHANK3 | c.2857C= (p.Leu953=) n.3441C= c.1909C= (p.Leu637=) c.1399C= (p.Leu467=) c.*1855C= (n.*1855C=) c.3253C= (p.Leu1085=) c.3235C= (p.Leu1079=) | |
| 22 | g.50721089C>G | CA515261127 | SHANK3 | c.2857C>G (p.Leu953Val) n.3441C>G c.1909C>G (p.Leu637Val) c.1399C>G (p.Leu467Val) c.*1855C>G (n.*1855C>G) c.3253C>G (p.Leu1085Val) c.3235C>G (p.Leu1079Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721089C>T | CA515261128 | SHANK3 | c.2857C>T (p.Leu953=) n.3441C>T c.1909C>T (p.Leu637=) c.1399C>T (p.Leu467=) c.*1855C>T (n.*1855C>T) c.3253C>T (p.Leu1085=) c.3235C>T (p.Leu1079=) | gnomAD v4 |
| 22 | g.50721090T>A | CA515261129 | SHANK3 | c.2858T>A (p.Leu953Gln) n.3442T>A c.1910T>A (p.Leu637Gln) c.1400T>A (p.Leu467Gln) c.*1856T>A (n.*1856T>A) c.3254T>A (p.Leu1085Gln) c.3236T>A (p.Leu1079Gln) | |
| 22 | g.50721090T>C | CA515261130 | SHANK3 | c.2858T>C (p.Leu953Pro) n.3442T>C c.1910T>C (p.Leu637Pro) c.1400T>C (p.Leu467Pro) c.*1856T>C (n.*1856T>C) c.3254T>C (p.Leu1085Pro) c.3236T>C (p.Leu1079Pro) | gnomAD v4 |
| 22 | g.50721090T>G | CA515261131 | SHANK3 | c.2858T>G (p.Leu953Arg) n.3442T>G c.1910T>G (p.Leu637Arg) c.1400T>G (p.Leu467Arg) c.*1856T>G (n.*1856T>G) c.3254T>G (p.Leu1085Arg) c.3236T>G (p.Leu1079Arg) | |
| 22 | g.50721091G>A | CA515261132 | SHANK3 | c.2859G>A (p.Leu953=) n.3443G>A c.1911G>A (p.Leu637=) c.1401G>A (p.Leu467=) c.*1857G>A (n.*1857G>A) c.3255G>A (p.Leu1085=) c.3237G>A (p.Leu1079=) | |
| 22 | g.50721091G>C | CA10325991 | SHANK3 | c.2859G>C (p.Leu953=) n.3443G>C c.1911G>C (p.Leu637=) c.1401G>C (p.Leu467=) c.*1857G>C (n.*1857G>C) c.3255G>C (p.Leu1085=) c.3237G>C (p.Leu1079=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721091G= | CA2411008026 | SHANK3 | c.2859G= (p.Leu953=) n.3443G= c.1911G= (p.Leu637=) c.1401G= (p.Leu467=) c.*1857G= (n.*1857G=) c.3255G= (p.Leu1085=) c.3237G= (p.Leu1079=) | |
| 22 | g.50721091G>T | CA515261133 | SHANK3 | c.2859G>T (p.Leu953=) n.3443G>T c.1911G>T (p.Leu637=) c.1401G>T (p.Leu467=) c.*1857G>T (n.*1857G>T) c.3255G>T (p.Leu1085=) c.3237G>T (p.Leu1079=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721094del | CA2657583425 | SHANK3 | c.2862del (p.Ser956ArgfsTer?) n.3446del c.1914del (p.Ser640ArgfsTer?) c.1404del (p.Ser470ArgfsTer?) c.*1860del (n.*1860del) c.3258del (p.Ser1088ArgfsTer?) c.3240del (p.Ser1082ArgfsTer?) | gnomAD v4 |
| 22 | g.50721092G>A | CA515261136 | SHANK3 | c.2860G>A (p.Gly954Arg) n.3444G>A c.1912G>A (p.Gly638Arg) c.1402G>A (p.Gly468Arg) c.*1858G>A (n.*1858G>A) c.3256G>A (p.Gly1086Arg) c.3238G>A (p.Gly1080Arg) | |
| 22 | g.50721092G>C | CA515261135 | SHANK3 | c.2860G>C (p.Gly954Arg) n.3444G>C c.1912G>C (p.Gly638Arg) c.1402G>C (p.Gly468Arg) c.*1858G>C (n.*1858G>C) c.3256G>C (p.Gly1086Arg) c.3238G>C (p.Gly1080Arg) | gnomAD v4 |
| 22 | g.50721092G>T | CA515261134 | SHANK3 | c.2860G>T (p.Gly954Trp) n.3444G>T c.1912G>T (p.Gly638Trp) c.1402G>T (p.Gly468Trp) c.*1858G>T (n.*1858G>T) c.3256G>T (p.Gly1086Trp) c.3238G>T (p.Gly1080Trp) | gnomAD v4 |
| 22 | g.50721093G>A | CA515261137 | SHANK3 | c.2861G>A (p.Gly954Glu) n.3445G>A c.1913G>A (p.Gly638Glu) c.1403G>A (p.Gly468Glu) c.*1859G>A (n.*1859G>A) c.3257G>A (p.Gly1086Glu) c.3239G>A (p.Gly1080Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721093G>C | CA515261139 | SHANK3 | c.2861G>C (p.Gly954Ala) n.3445G>C c.1913G>C (p.Gly638Ala) c.1403G>C (p.Gly468Ala) c.*1859G>C (n.*1859G>C) c.3257G>C (p.Gly1086Ala) c.3239G>C (p.Gly1080Ala) | |
| 22 | g.50721093G= | CA2411008027 | SHANK3 | c.2861G= (p.Gly954=) n.3445G= c.1913G= (p.Gly638=) c.1403G= (p.Gly468=) c.*1859G= (n.*1859G=) c.3257G= (p.Gly1086=) c.3239G= (p.Gly1080=) | |
| 22 | g.50721093G>T | CA515261138 | SHANK3 | c.2861G>T (p.Gly954Val) n.3445G>T c.1913G>T (p.Gly638Val) c.1403G>T (p.Gly468Val) c.*1859G>T (n.*1859G>T) c.3257G>T (p.Gly1086Val) c.3239G>T (p.Gly1080Val) | gnomAD v4 |
| 22 | g.50721094G>A | CA10325992 | SHANK3 | c.2862G>A (p.Gly954=) n.3446G>A c.1914G>A (p.Gly638=) c.1404G>A (p.Gly468=) c.*1860G>A (n.*1860G>A) c.3258G>A (p.Gly1086=) c.3240G>A (p.Gly1080=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721094G>C | CA515261141 | SHANK3 | c.2862G>C (p.Gly954=) n.3446G>C c.1914G>C (p.Gly638=) c.1404G>C (p.Gly468=) c.*1860G>C (n.*1860G>C) c.3258G>C (p.Gly1086=) c.3240G>C (p.Gly1080=) | |
| 22 | g.50721094G= | CA2411008028 | SHANK3 | c.2862G= (p.Gly954=) n.3446G= c.1914G= (p.Gly638=) c.1404G= (p.Gly468=) c.*1860G= (n.*1860G=) c.3258G= (p.Gly1086=) c.3240G= (p.Gly1080=) | |
| 22 | g.50721094G>T | CA515261140 | SHANK3 | c.2862G>T (p.Gly954=) n.3446G>T c.1914G>T (p.Gly638=) c.1404G>T (p.Gly468=) c.*1860G>T (n.*1860G>T) c.3258G>T (p.Gly1086=) c.3240G>T (p.Gly1080=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721095C>A | CA515261142 | SHANK3 | c.2863C>A (p.Pro955Thr) n.3447C>A c.1915C>A (p.Pro639Thr) c.1405C>A (p.Pro469Thr) c.*1861C>A (n.*1861C>A) c.3259C>A (p.Pro1087Thr) c.3241C>A (p.Pro1081Thr) | gnomAD v4 |
| 22 | g.50721095C= | CA2411008029 | SHANK3 | c.2863C= (p.Pro955=) n.3447C= c.1915C= (p.Pro639=) c.1405C= (p.Pro469=) c.*1861C= (n.*1861C=) c.3259C= (p.Pro1087=) c.3241C= (p.Pro1081=) | |
| 22 | g.50721095C>G | CA515261143 | SHANK3 | c.2863C>G (p.Pro955Ala) n.3447C>G c.1915C>G (p.Pro639Ala) c.1405C>G (p.Pro469Ala) c.*1861C>G (n.*1861C>G) c.3259C>G (p.Pro1087Ala) c.3241C>G (p.Pro1081Ala) | |
| 22 | g.50721095C>T | CA10325993 | SHANK3 | c.2863C>T (p.Pro955Ser) n.3447C>T c.1915C>T (p.Pro639Ser) c.1405C>T (p.Pro469Ser) c.*1861C>T (n.*1861C>T) c.3259C>T (p.Pro1087Ser) c.3241C>T (p.Pro1081Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721097del | CA2657583426 | SHANK3 | c.2865del (p.Ser956ArgfsTer?) n.3449del c.1917del (p.Ser640ArgfsTer?) c.1407del (p.Ser470ArgfsTer?) c.*1863del (n.*1863del) c.3261del (p.Ser1088ArgfsTer?) c.3243del (p.Ser1082ArgfsTer?) | gnomAD v4 |
| 22 | g.50721096C>A | CA515261144 | SHANK3 | c.2864C>A (p.Pro955His) n.3448C>A c.1916C>A (p.Pro639His) c.1406C>A (p.Pro469His) c.*1862C>A (n.*1862C>A) c.3260C>A (p.Pro1087His) c.3242C>A (p.Pro1081His) | gnomAD v4 |
| 22 | g.50721096C= | CA2411008030 | SHANK3 | c.2864C= (p.Pro955=) n.3448C= c.1916C= (p.Pro639=) c.1406C= (p.Pro469=) c.*1862C= (n.*1862C=) c.3260C= (p.Pro1087=) c.3242C= (p.Pro1081=) | |
| 22 | g.50721096C>G | CA515261145 | SHANK3 | c.2864C>G (p.Pro955Arg) n.3448C>G c.1916C>G (p.Pro639Arg) c.1406C>G (p.Pro469Arg) c.*1862C>G (n.*1862C>G) c.3260C>G (p.Pro1087Arg) c.3242C>G (p.Pro1081Arg) | |
| 22 | g.50721096C>T | CA10325994 | SHANK3 | c.2864C>T (p.Pro955Leu) n.3448C>T c.1916C>T (p.Pro639Leu) c.1406C>T (p.Pro469Leu) c.*1862C>T (n.*1862C>T) c.3260C>T (p.Pro1087Leu) c.3242C>T (p.Pro1081Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721097C>A | CA515261146 | SHANK3 | c.2865C>A (p.Pro955=) n.3449C>A c.1917C>A (p.Pro639=) c.1407C>A (p.Pro469=) c.*1863C>A (n.*1863C>A) c.3261C>A (p.Pro1087=) c.3243C>A (p.Pro1081=) | COSMIC COSMIC COSMIC |
| 22 | g.50721097C= | CA2411008031 | SHANK3 | c.2865C= (p.Pro955=) n.3449C= c.1917C= (p.Pro639=) c.1407C= (p.Pro469=) c.*1863C= (n.*1863C=) c.3261C= (p.Pro1087=) c.3243C= (p.Pro1081=) | |
| 22 | g.50721097C>G | CA515261147 | SHANK3 | c.2865C>G (p.Pro955=) n.3449C>G c.1917C>G (p.Pro639=) c.1407C>G (p.Pro469=) c.*1863C>G (n.*1863C>G) c.3261C>G (p.Pro1087=) c.3243C>G (p.Pro1081=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721097C>T | CA515261148 | SHANK3 | c.2865C>T (p.Pro955=) n.3449C>T c.1917C>T (p.Pro639=) c.1407C>T (p.Pro469=) c.*1863C>T (n.*1863C>T) c.3261C>T (p.Pro1087=) c.3243C>T (p.Pro1081=) | dbSNP gnomAD v3 gnomAD v4 |