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.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 |
| 22 | g.50721098T>A | CA515261149 | SHANK3 | c.2866T>A (p.Ser956Thr) n.3450T>A c.1918T>A (p.Ser640Thr) c.1408T>A (p.Ser470Thr) c.*1864T>A (n.*1864T>A) c.3262T>A (p.Ser1088Thr) c.3244T>A (p.Ser1082Thr) | |
| 22 | g.50721098T>C | CA515261150 | SHANK3 | c.2866T>C (p.Ser956Pro) n.3450T>C c.1918T>C (p.Ser640Pro) c.1408T>C (p.Ser470Pro) c.*1864T>C (n.*1864T>C) c.3262T>C (p.Ser1088Pro) c.3244T>C (p.Ser1082Pro) | |
| 22 | g.50721098T>G | CA515261151 | SHANK3 | c.2866T>G (p.Ser956Ala) n.3450T>G c.1918T>G (p.Ser640Ala) c.1408T>G (p.Ser470Ala) c.*1864T>G (n.*1864T>G) c.3262T>G (p.Ser1088Ala) c.3244T>G (p.Ser1082Ala) | |
| 22 | g.50721099C>A | CA515261152 | SHANK3 | c.2867C>A (p.Ser956Ter) n.3451C>A c.1919C>A (p.Ser640Ter) c.1409C>A (p.Ser470Ter) c.*1865C>A (n.*1865C>A) c.3263C>A (p.Ser1088Ter) c.3245C>A (p.Ser1082Ter) | |
| 22 | g.50721099C= | CA2411008032 | SHANK3 | c.2867C= (p.Ser956=) n.3451C= c.1919C= (p.Ser640=) c.1409C= (p.Ser470=) c.*1865C= (n.*1865C=) c.3263C= (p.Ser1088=) c.3245C= (p.Ser1082=) | |
| 22 | g.50721099C>G | CA515261153 | SHANK3 | c.2867C>G (p.Ser956Trp) n.3451C>G c.1919C>G (p.Ser640Trp) c.1409C>G (p.Ser470Trp) c.*1865C>G (n.*1865C>G) c.3263C>G (p.Ser1088Trp) c.3245C>G (p.Ser1082Trp) | gnomAD v4 |
| 22 | g.50721099C>T | CA10325995 | SHANK3 | c.2867C>T (p.Ser956Leu) n.3451C>T c.1919C>T (p.Ser640Leu) c.1409C>T (p.Ser470Leu) c.*1865C>T (n.*1865C>T) c.3263C>T (p.Ser1088Leu) c.3245C>T (p.Ser1082Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721100G>A | CA515261154 | SHANK3 | c.2868G>A (p.Ser956=) n.3452G>A c.1920G>A (p.Ser640=) c.1410G>A (p.Ser470=) c.*1866G>A (n.*1866G>A) c.3264G>A (p.Ser1088=) c.3246G>A (p.Ser1082=) | gnomAD v4 |
| 22 | g.50721100G>C | CA515261155 | SHANK3 | c.2868G>C (p.Ser956=) n.3452G>C c.1920G>C (p.Ser640=) c.1410G>C (p.Ser470=) c.*1866G>C (n.*1866G>C) c.3264G>C (p.Ser1088=) c.3246G>C (p.Ser1082=) | |
| 22 | g.50721100G>T | CA515261156 | SHANK3 | c.2868G>T (p.Ser956=) n.3452G>T c.1920G>T (p.Ser640=) c.1410G>T (p.Ser470=) c.*1866G>T (n.*1866G>T) c.3264G>T (p.Ser1088=) c.3246G>T (p.Ser1082=) | gnomAD v4 |
| 22 | g.50721101G>A | CA515261157 | SHANK3 | c.2869G>A (p.Gly957Ser) n.3453G>A c.1921G>A (p.Gly641Ser) c.1411G>A (p.Gly471Ser) c.*1867G>A (n.*1867G>A) c.3265G>A (p.Gly1089Ser) c.3247G>A (p.Gly1083Ser) | |
| 22 | g.50721101G>C | CA515261158 | SHANK3 | c.2869G>C (p.Gly957Arg) n.3453G>C c.1921G>C (p.Gly641Arg) c.1411G>C (p.Gly471Arg) c.*1867G>C (n.*1867G>C) c.3265G>C (p.Gly1089Arg) c.3247G>C (p.Gly1083Arg) | |
| 22 | g.50721101G= | CA2411008033 | SHANK3 | c.2869G= (p.Gly957=) n.3453G= c.1921G= (p.Gly641=) c.1411G= (p.Gly471=) c.*1867G= (n.*1867G=) c.3265G= (p.Gly1089=) c.3247G= (p.Gly1083=) | |
| 22 | g.50721101G>T | CA515261159 | SHANK3 | c.2869G>T (p.Gly957Cys) n.3453G>T c.1921G>T (p.Gly641Cys) c.1411G>T (p.Gly471Cys) c.*1867G>T (n.*1867G>T) c.3265G>T (p.Gly1089Cys) c.3247G>T (p.Gly1083Cys) | dbSNP |
| 22 | g.50721102G>A | CA515261160 | SHANK3 | c.2870G>A (p.Gly957Asp) n.3454G>A c.1922G>A (p.Gly641Asp) c.1412G>A (p.Gly471Asp) c.*1868G>A (n.*1868G>A) c.3266G>A (p.Gly1089Asp) c.3248G>A (p.Gly1083Asp) | |
| 22 | g.50721102G>C | CA515261161 | SHANK3 | c.2870G>C (p.Gly957Ala) n.3454G>C c.1922G>C (p.Gly641Ala) c.1412G>C (p.Gly471Ala) c.*1868G>C (n.*1868G>C) c.3266G>C (p.Gly1089Ala) c.3248G>C (p.Gly1083Ala) | gnomAD v4 |
| 22 | g.50721102G>T | CA515261162 | SHANK3 | c.2870G>T (p.Gly957Val) n.3454G>T c.1922G>T (p.Gly641Val) c.1412G>T (p.Gly471Val) c.*1868G>T (n.*1868G>T) c.3266G>T (p.Gly1089Val) c.3248G>T (p.Gly1083Val) | |
| 22 | g.50721103T>A | CA515261164 | SHANK3 | c.2871T>A (p.Gly957=) n.3455T>A c.1923T>A (p.Gly641=) c.1413T>A (p.Gly471=) c.*1869T>A (n.*1869T>A) c.3267T>A (p.Gly1089=) c.3249T>A (p.Gly1083=) | |
| 22 | g.50721103T>C | CA515261165 | SHANK3 | c.2871T>C (p.Gly957=) n.3455T>C c.1923T>C (p.Gly641=) c.1413T>C (p.Gly471=) c.*1869T>C (n.*1869T>C) c.3267T>C (p.Gly1089=) c.3249T>C (p.Gly1083=) | |
| 22 | g.50721103T>G | CA515261163 | SHANK3 | c.2871T>G (p.Gly957=) n.3455T>G c.1923T>G (p.Gly641=) c.1413T>G (p.Gly471=) c.*1869T>G (n.*1869T>G) c.3267T>G (p.Gly1089=) c.3249T>G (p.Gly1083=) | |
| 22 | g.50721104T>A | CA515261166 | SHANK3 | c.2872T>A (p.Ser958Thr) n.3456T>A c.1924T>A (p.Ser642Thr) c.1414T>A (p.Ser472Thr) c.*1870T>A (n.*1870T>A) c.3268T>A (p.Ser1090Thr) c.3250T>A (p.Ser1084Thr) | |
| 22 | g.50721104T>C | CA515261167 | SHANK3 | c.2872T>C (p.Ser958Pro) n.3456T>C c.1924T>C (p.Ser642Pro) c.1414T>C (p.Ser472Pro) c.*1870T>C (n.*1870T>C) c.3268T>C (p.Ser1090Pro) c.3250T>C (p.Ser1084Pro) | |
| 22 | g.50721104T>G | CA515261168 | SHANK3 | c.2872T>G (p.Ser958Ala) n.3456T>G c.1924T>G (p.Ser642Ala) c.1414T>G (p.Ser472Ala) c.*1870T>G (n.*1870T>G) c.3268T>G (p.Ser1090Ala) c.3250T>G (p.Ser1084Ala) | gnomAD v4 |
| 22 | g.50721105C>A | CA515261169 | SHANK3 | c.2873C>A (p.Ser958Tyr) n.3457C>A c.1925C>A (p.Ser642Tyr) c.1415C>A (p.Ser472Tyr) c.*1871C>A (n.*1871C>A) c.3269C>A (p.Ser1090Tyr) c.3251C>A (p.Ser1084Tyr) | |
| 22 | g.50721105C>G | CA515261170 | SHANK3 | c.2873C>G (p.Ser958Cys) n.3457C>G c.1925C>G (p.Ser642Cys) c.1415C>G (p.Ser472Cys) c.*1871C>G (n.*1871C>G) c.3269C>G (p.Ser1090Cys) c.3251C>G (p.Ser1084Cys) | |
| 22 | g.50721105C>T | CA515261171 | SHANK3 | c.2873C>T (p.Ser958Phe) n.3457C>T c.1925C>T (p.Ser642Phe) c.1415C>T (p.Ser472Phe) c.*1871C>T (n.*1871C>T) c.3269C>T (p.Ser1090Phe) c.3251C>T (p.Ser1084Phe) | |
| 22 | g.50721106C>A | CA515261172 | SHANK3 | c.2874C>A (p.Ser958=) n.3458C>A c.1926C>A (p.Ser642=) c.1416C>A (p.Ser472=) c.*1872C>A (n.*1872C>A) c.3270C>A (p.Ser1090=) c.3252C>A (p.Ser1084=) | |
| 22 | g.50721106C= | CA2411008034 | SHANK3 | c.2874C= (p.Ser958=) n.3458C= c.1926C= (p.Ser642=) c.1416C= (p.Ser472=) c.*1872C= (n.*1872C=) c.3270C= (p.Ser1090=) c.3252C= (p.Ser1084=) | |
| 22 | g.50721106C>G | CA515261173 | SHANK3 | c.2874C>G (p.Ser958=) n.3458C>G c.1926C>G (p.Ser642=) c.1416C>G (p.Ser472=) c.*1872C>G (n.*1872C>G) c.3270C>G (p.Ser1090=) c.3252C>G (p.Ser1084=) | |
| 22 | g.50721106C>T | CA325578657 | SHANK3 | c.2874C>T (p.Ser958=) n.3458C>T c.1926C>T (p.Ser642=) c.1416C>T (p.Ser472=) c.*1872C>T (n.*1872C>T) c.3270C>T (p.Ser1090=) c.3252C>T (p.Ser1084=) | dbSNP gnomAD v4 |
| 22 | g.50721107A>C | CA515261174 | SHANK3 | c.2875A>C (p.Thr959Pro) n.3459A>C c.1927A>C (p.Thr643Pro) c.1417A>C (p.Thr473Pro) c.*1873A>C (n.*1873A>C) c.3271A>C (p.Thr1091Pro) c.3253A>C (p.Thr1085Pro) | |
| 22 | g.50721107A>G | CA515261175 | SHANK3 | c.2875A>G (p.Thr959Ala) n.3459A>G c.1927A>G (p.Thr643Ala) c.1417A>G (p.Thr473Ala) c.*1873A>G (n.*1873A>G) c.3271A>G (p.Thr1091Ala) c.3253A>G (p.Thr1085Ala) | |
| 22 | g.50721107A>T | CA515261176 | SHANK3 | c.2875A>T (p.Thr959Ser) n.3459A>T c.1927A>T (p.Thr643Ser) c.1417A>T (p.Thr473Ser) c.*1873A>T (n.*1873A>T) c.3271A>T (p.Thr1091Ser) c.3253A>T (p.Thr1085Ser) | |
| 22 | g.50721110_50721143del | CA2580099981 | SHANK3 | c.2878_2911del (p.Phe960ProfsTer?) n.3462_3495del c.1930_1963del (p.Phe644ProfsTer?) c.1420_1453del (p.Phe474ProfsTer?) c.*1876_*1909del (n.*1876_*1909del) c.3274_3307del (p.Phe1092ProfsTer?) c.3256_3289del (p.Phe1086ProfsTer?) | ClinVar |
| 22 | g.50721108C>A | CA515261179 | SHANK3 | c.2876C>A (p.Thr959Asn) n.3460C>A c.1928C>A (p.Thr643Asn) c.1418C>A (p.Thr473Asn) c.*1874C>A (n.*1874C>A) c.3272C>A (p.Thr1091Asn) c.3254C>A (p.Thr1085Asn) | |
| 22 | g.50721108C= | CA2411008035 | SHANK3 | c.2876C= (p.Thr959=) n.3460C= c.1928C= (p.Thr643=) c.1418C= (p.Thr473=) c.*1874C= (n.*1874C=) c.3272C= (p.Thr1091=) c.3254C= (p.Thr1085=) | |
| 22 | g.50721108C>G | CA515261177 | SHANK3 | c.2876C>G (p.Thr959Ser) n.3460C>G c.1928C>G (p.Thr643Ser) c.1418C>G (p.Thr473Ser) c.*1874C>G (n.*1874C>G) c.3272C>G (p.Thr1091Ser) c.3254C>G (p.Thr1085Ser) | |
| 22 | g.50721108C>T | CA515261178 | SHANK3 | c.2876C>T (p.Thr959Ile) n.3460C>T c.1928C>T (p.Thr643Ile) c.1418C>T (p.Thr473Ile) c.*1874C>T (n.*1874C>T) c.3272C>T (p.Thr1091Ile) c.3254C>T (p.Thr1085Ile) | dbSNP gnomAD v4 |
| 22 | g.50721109C>A | CA515261180 | SHANK3 | c.2877C>A (p.Thr959=) n.3461C>A c.1929C>A (p.Thr643=) c.1419C>A (p.Thr473=) c.*1875C>A (n.*1875C>A) c.3273C>A (p.Thr1091=) c.3255C>A (p.Thr1085=) | gnomAD v4 |
| 22 | g.50721109C= | CA2411008036 | SHANK3 | c.2877C= (p.Thr959=) n.3461C= c.1929C= (p.Thr643=) c.1419C= (p.Thr473=) c.*1875C= (n.*1875C=) c.3273C= (p.Thr1091=) c.3255C= (p.Thr1085=) | |
| 22 | g.50721109C>G | CA515261181 | SHANK3 | c.2877C>G (p.Thr959=) n.3461C>G c.1929C>G (p.Thr643=) c.1419C>G (p.Thr473=) c.*1875C>G (n.*1875C>G) c.3273C>G (p.Thr1091=) c.3255C>G (p.Thr1085=) | |
| 22 | g.50721109C>T | CA10325996 | SHANK3 | c.2877C>T (p.Thr959=) n.3461C>T c.1929C>T (p.Thr643=) c.1419C>T (p.Thr473=) c.*1875C>T (n.*1875C>T) c.3273C>T (p.Thr1091=) c.3255C>T (p.Thr1085=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721110T>A | CA515261182 | SHANK3 | c.2878T>A (p.Phe960Ile) n.3462T>A c.1930T>A (p.Phe644Ile) c.1420T>A (p.Phe474Ile) c.*1876T>A (n.*1876T>A) c.3274T>A (p.Phe1092Ile) c.3256T>A (p.Phe1086Ile) | |
| 22 | g.50721110T>C | CA515261183 | SHANK3 | c.2878T>C (p.Phe960Leu) n.3462T>C c.1930T>C (p.Phe644Leu) c.1420T>C (p.Phe474Leu) c.*1876T>C (n.*1876T>C) c.3274T>C (p.Phe1092Leu) c.3256T>C (p.Phe1086Leu) | gnomAD v4 |
| 22 | g.50721110T>G | CA515261184 | SHANK3 | c.2878T>G (p.Phe960Val) n.3462T>G c.1930T>G (p.Phe644Val) c.1420T>G (p.Phe474Val) c.*1876T>G (n.*1876T>G) c.3274T>G (p.Phe1092Val) c.3256T>G (p.Phe1086Val) | |
| 22 | g.50721111T>A | CA515261185 | SHANK3 | c.2879T>A (p.Phe960Tyr) n.3463T>A c.1931T>A (p.Phe644Tyr) c.1421T>A (p.Phe474Tyr) c.*1877T>A (n.*1877T>A) c.3275T>A (p.Phe1092Tyr) c.3257T>A (p.Phe1086Tyr) | |
| 22 | g.50721111T>C | CA515261186 | SHANK3 | c.2879T>C (p.Phe960Ser) n.3463T>C c.1931T>C (p.Phe644Ser) c.1421T>C (p.Phe474Ser) c.*1877T>C (n.*1877T>C) c.3275T>C (p.Phe1092Ser) c.3257T>C (p.Phe1086Ser) | |
| 22 | g.50721111T>G | CA515261187 | SHANK3 | c.2879T>G (p.Phe960Cys) n.3463T>G c.1931T>G (p.Phe644Cys) c.1421T>G (p.Phe474Cys) c.*1877T>G (n.*1877T>G) c.3275T>G (p.Phe1092Cys) c.3257T>G (p.Phe1086Cys) | |
| 22 | g.50721111_50721115delinsTCATC | CA2411008037 | SHANK3 | c.2879_2883delinsTCATC (p.Phe960=) n.3463_3467delinsTCATC c.1931_1935delinsTCATC (p.Phe644=) c.1421_1425delinsTCATC (p.Phe474=) c.*1877_*1881delinsTCATC (n.*1877_*1881delinsTCATC) c.3275_3279delinsTCATC (p.Phe1092=) c.3257_3261delinsTCATC (p.Phe1086=) | |
| 22 | g.50721112C>A | CA515261188 | SHANK3 | c.2880C>A (p.Phe960Leu) n.3464C>A c.1932C>A (p.Phe644Leu) c.1422C>A (p.Phe474Leu) c.*1878C>A (n.*1878C>A) c.3276C>A (p.Phe1092Leu) c.3258C>A (p.Phe1086Leu) | |
| 22 | g.50721112C= | CA2411008038 | SHANK3 | c.2880C= (p.Phe960=) n.3464C= c.1932C= (p.Phe644=) c.1422C= (p.Phe474=) c.*1878C= (n.*1878C=) c.3276C= (p.Phe1092=) c.3258C= (p.Phe1086=) | |
| 22 | g.50721112C>G | CA515261189 | SHANK3 | c.2880C>G (p.Phe960Leu) n.3464C>G c.1932C>G (p.Phe644Leu) c.1422C>G (p.Phe474Leu) c.*1878C>G (n.*1878C>G) c.3276C>G (p.Phe1092Leu) c.3258C>G (p.Phe1086Leu) | |
| 22 | g.50721112C>T | CA515261190 | SHANK3 | c.2880C>T (p.Phe960=) n.3464C>T c.1932C>T (p.Phe644=) c.1422C>T (p.Phe474=) c.*1878C>T (n.*1878C>T) c.3276C>T (p.Phe1092=) c.3258C>T (p.Phe1086=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721114_50721117del | CA640359041 | SHANK3 | c.2882_2885del (p.Ile961ThrfsTer?) n.3466_3469del c.1934_1937del (p.Ile645ThrfsTer?) c.1424_1427del (p.Ile475ThrfsTer?) c.*1880_*1883del (n.*1880_*1883del) c.3278_3281del (p.Ile1093ThrfsTer?) c.3260_3263del (p.Ile1087ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721113A>C | CA515261193 | SHANK3 | c.2881A>C (p.Ile961Leu) n.3465A>C c.1933A>C (p.Ile645Leu) c.1423A>C (p.Ile475Leu) c.*1879A>C (n.*1879A>C) c.3277A>C (p.Ile1093Leu) c.3259A>C (p.Ile1087Leu) | |
| 22 | g.50721113A>G | CA515261192 | SHANK3 | c.2881A>G (p.Ile961Val) n.3465A>G c.1933A>G (p.Ile645Val) c.1423A>G (p.Ile475Val) c.*1879A>G (n.*1879A>G) c.3277A>G (p.Ile1093Val) c.3259A>G (p.Ile1087Val) | |
| 22 | g.50721113A>T | CA515261191 | SHANK3 | c.2881A>T (p.Ile961Phe) n.3465A>T c.1933A>T (p.Ile645Phe) c.1423A>T (p.Ile475Phe) c.*1879A>T (n.*1879A>T) c.3277A>T (p.Ile1093Phe) c.3259A>T (p.Ile1087Phe) | |
| 22 | g.50721114T>A | CA515261194 | SHANK3 | c.2882T>A (p.Ile961Asn) n.3466T>A c.1934T>A (p.Ile645Asn) c.1424T>A (p.Ile475Asn) c.*1880T>A (n.*1880T>A) c.3278T>A (p.Ile1093Asn) c.3260T>A (p.Ile1087Asn) | |
| 22 | g.50721114T>C | CA10325997 | SHANK3 | c.2882T>C (p.Ile961Thr) n.3466T>C c.1934T>C (p.Ile645Thr) c.1424T>C (p.Ile475Thr) c.*1880T>C (n.*1880T>C) c.3278T>C (p.Ile1093Thr) c.3260T>C (p.Ile1087Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721114T>G | CA515261195 | SHANK3 | c.2882T>G (p.Ile961Ser) n.3466T>G c.1934T>G (p.Ile645Ser) c.1424T>G (p.Ile475Ser) c.*1880T>G (n.*1880T>G) c.3278T>G (p.Ile1093Ser) c.3260T>G (p.Ile1087Ser) | |
| 22 | g.50721114T= | CA2411008039 | SHANK3 | c.2882T= (p.Ile961=) n.3466T= c.1934T= (p.Ile645=) c.1424T= (p.Ile475=) c.*1880T= (n.*1880T=) c.3278T= (p.Ile1093=) c.3260T= (p.Ile1087=) | |
| 22 | g.50721115C>A | CA10325998 | SHANK3 | c.2883C>A (p.Ile961=) n.3467C>A c.1935C>A (p.Ile645=) c.1425C>A (p.Ile475=) c.*1881C>A (n.*1881C>A) c.3279C>A (p.Ile1093=) c.3261C>A (p.Ile1087=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721115C= | CA2411008040 | SHANK3 | c.2883C= (p.Ile961=) n.3467C= c.1935C= (p.Ile645=) c.1425C= (p.Ile475=) c.*1881C= (n.*1881C=) c.3279C= (p.Ile1093=) c.3261C= (p.Ile1087=) | |
| 22 | g.50721115C>G | CA515261196 | SHANK3 | c.2883C>G (p.Ile961Met) n.3467C>G c.1935C>G (p.Ile645Met) c.1425C>G (p.Ile475Met) c.*1881C>G (n.*1881C>G) c.3279C>G (p.Ile1093Met) c.3261C>G (p.Ile1087Met) | gnomAD v4 |
| 22 | g.50721115C>T | CA515261197 | SHANK3 | c.2883C>T (p.Ile961=) n.3467C>T c.1935C>T (p.Ile645=) c.1425C>T (p.Ile475=) c.*1881C>T (n.*1881C>T) c.3279C>T (p.Ile1093=) c.3261C>T (p.Ile1087=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721116C>A | CA515261200 | SHANK3 | c.2884C>A (p.His962Asn) n.3468C>A c.1936C>A (p.His646Asn) c.1426C>A (p.His476Asn) c.*1882C>A (n.*1882C>A) c.3280C>A (p.His1094Asn) c.3262C>A (p.His1088Asn) | |
| 22 | g.50721116C= | CA2411008041 | SHANK3 | c.2884C= (p.His962=) n.3468C= c.1936C= (p.His646=) c.1426C= (p.His476=) c.*1882C= (n.*1882C=) c.3280C= (p.His1094=) c.3262C= (p.His1088=) | |
| 22 | g.50721116C>G | CA515261199 | SHANK3 | c.2884C>G (p.His962Asp) n.3468C>G c.1936C>G (p.His646Asp) c.1426C>G (p.His476Asp) c.*1882C>G (n.*1882C>G) c.3280C>G (p.His1094Asp) c.3262C>G (p.His1088Asp) | |
| 22 | g.50721116C>T | CA515261198 | SHANK3 | c.2884C>T (p.His962Tyr) n.3468C>T c.1936C>T (p.His646Tyr) c.1426C>T (p.His476Tyr) c.*1882C>T (n.*1882C>T) c.3280C>T (p.His1094Tyr) c.3262C>T (p.His1088Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721117A>C | CA515261201 | SHANK3 | c.2885A>C (p.His962Pro) n.3469A>C c.1937A>C (p.His646Pro) c.1427A>C (p.His476Pro) c.*1883A>C (n.*1883A>C) c.3281A>C (p.His1094Pro) c.3263A>C (p.His1088Pro) | |
| 22 | g.50721117A>G | CA515261202 | SHANK3 | c.2885A>G (p.His962Arg) n.3469A>G c.1937A>G (p.His646Arg) c.1427A>G (p.His476Arg) c.*1883A>G (n.*1883A>G) c.3281A>G (p.His1094Arg) c.3263A>G (p.His1088Arg) | |
| 22 | g.50721117A>T | CA515261203 | SHANK3 | c.2885A>T (p.His962Leu) n.3469A>T c.1937A>T (p.His646Leu) c.1427A>T (p.His476Leu) c.*1883A>T (n.*1883A>T) c.3281A>T (p.His1094Leu) c.3263A>T (p.His1088Leu) | |
| 22 | g.50721118C>A | CA515261204 | SHANK3 | c.2886C>A (p.His962Gln) n.3470C>A c.1938C>A (p.His646Gln) c.1428C>A (p.His476Gln) c.*1884C>A (n.*1884C>A) c.3282C>A (p.His1094Gln) c.3264C>A (p.His1088Gln) | |
| 22 | g.50721118C= | CA2411008042 | SHANK3 | c.2886C= (p.His962=) n.3470C= c.1938C= (p.His646=) c.1428C= (p.His476=) c.*1884C= (n.*1884C=) c.3282C= (p.His1094=) c.3264C= (p.His1088=) | |
| 22 | g.50721118C>G | CA515261205 | SHANK3 | c.2886C>G (p.His962Gln) n.3470C>G c.1938C>G (p.His646Gln) c.1428C>G (p.His476Gln) c.*1884C>G (n.*1884C>G) c.3282C>G (p.His1094Gln) c.3264C>G (p.His1088Gln) | |
| 22 | g.50721118C>T | CA515261206 | SHANK3 | c.2886C>T (p.His962=) n.3470C>T c.1938C>T (p.His646=) c.1428C>T (p.His476=) c.*1884C>T (n.*1884C>T) c.3282C>T (p.His1094=) c.3264C>T (p.His1088=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721120del | CA2657583427 | SHANK3 | c.2888del (p.Pro963HisfsTer?) n.3472del c.1940del (p.Pro647HisfsTer?) c.1430del (p.Pro477HisfsTer?) c.*1886del (n.*1886del) c.3284del (p.Pro1095HisfsTer?) c.3266del (p.Pro1089HisfsTer?) | gnomAD v4 |
| 22 | g.50721119C>A | CA515261207 | SHANK3 | c.2887C>A (p.Pro963Thr) n.3471C>A c.1939C>A (p.Pro647Thr) c.1429C>A (p.Pro477Thr) c.*1885C>A (n.*1885C>A) c.3283C>A (p.Pro1095Thr) c.3265C>A (p.Pro1089Thr) | gnomAD v4 |
| 22 | g.50721119C>G | CA515261209 | SHANK3 | c.2887C>G (p.Pro963Ala) n.3471C>G c.1939C>G (p.Pro647Ala) c.1429C>G (p.Pro477Ala) c.*1885C>G (n.*1885C>G) c.3283C>G (p.Pro1095Ala) c.3265C>G (p.Pro1089Ala) | |
| 22 | g.50721119C>T | CA515261208 | SHANK3 | c.2887C>T (p.Pro963Ser) n.3471C>T c.1939C>T (p.Pro647Ser) c.1429C>T (p.Pro477Ser) c.*1885C>T (n.*1885C>T) c.3283C>T (p.Pro1095Ser) c.3265C>T (p.Pro1089Ser) | |
| 22 | g.50721120C>A | CA515261210 | SHANK3 | c.2888C>A (p.Pro963Gln) n.3472C>A c.1940C>A (p.Pro647Gln) c.1430C>A (p.Pro477Gln) c.*1886C>A (n.*1886C>A) c.3284C>A (p.Pro1095Gln) c.3266C>A (p.Pro1089Gln) | gnomAD v4 |
| 22 | g.50721120C= | CA2411008043 | SHANK3 | c.2888C= (p.Pro963=) n.3472C= c.1940C= (p.Pro647=) c.1430C= (p.Pro477=) c.*1886C= (n.*1886C=) c.3284C= (p.Pro1095=) c.3266C= (p.Pro1089=) | |
| 22 | g.50721120C>G | CA515261211 | SHANK3 | c.2888C>G (p.Pro963Arg) n.3472C>G c.1940C>G (p.Pro647Arg) c.1430C>G (p.Pro477Arg) c.*1886C>G (n.*1886C>G) c.3284C>G (p.Pro1095Arg) c.3266C>G (p.Pro1089Arg) | |
| 22 | g.50721120C>T | CA325578675 | SHANK3 | c.2888C>T (p.Pro963Leu) n.3472C>T c.1940C>T (p.Pro647Leu) c.1430C>T (p.Pro477Leu) c.*1886C>T (n.*1886C>T) c.3284C>T (p.Pro1095Leu) c.3266C>T (p.Pro1089Leu) | dbSNP gnomAD v4 |
| 22 | g.50721121_50721122dup | CA2740130112 | SHANK3 | c.2889_2890dup (p.Leu964HisfsTer?) n.3473_3474dup c.1941_1942dup (p.Leu648HisfsTer?) c.1431_1432dup (p.Leu478HisfsTer?) c.*1887_*1888dup (n.*1887_*1888dup) c.3285_3286dup (p.Leu1096HisfsTer?) c.3267_3268dup (p.Leu1090HisfsTer?) | |
| 22 | g.50721121A>C | CA515261212 | SHANK3 | c.2889A>C (p.Pro963=) n.3473A>C c.1941A>C (p.Pro647=) c.1431A>C (p.Pro477=) c.*1887A>C (n.*1887A>C) c.3285A>C (p.Pro1095=) c.3267A>C (p.Pro1089=) | |
| 22 | g.50721121A>G | CA515261213 | SHANK3 | c.2889A>G (p.Pro963=) n.3473A>G c.1941A>G (p.Pro647=) c.1431A>G (p.Pro477=) c.*1887A>G (n.*1887A>G) c.3285A>G (p.Pro1095=) c.3267A>G (p.Pro1089=) | gnomAD v4 |
| 22 | g.50721121A>T | CA515261214 | SHANK3 | c.2889A>T (p.Pro963=) n.3473A>T c.1941A>T (p.Pro647=) c.1431A>T (p.Pro477=) c.*1887A>T (n.*1887A>T) c.3285A>T (p.Pro1095=) c.3267A>T (p.Pro1089=) | |
| 22 | g.50721122C>A | CA515261215 | SHANK3 | c.2890C>A (p.Leu964Ile) n.3474C>A c.1942C>A (p.Leu648Ile) c.1432C>A (p.Leu478Ile) c.*1888C>A (n.*1888C>A) c.3286C>A (p.Leu1096Ile) c.3268C>A (p.Leu1090Ile) | |
| 22 | g.50721122C>G | CA515261216 | SHANK3 | c.2890C>G (p.Leu964Val) n.3474C>G c.1942C>G (p.Leu648Val) c.1432C>G (p.Leu478Val) c.*1888C>G (n.*1888C>G) c.3286C>G (p.Leu1096Val) c.3268C>G (p.Leu1090Val) | |
| 22 | g.50721122C>T | CA515261217 | SHANK3 | c.2890C>T (p.Leu964Phe) n.3474C>T c.1942C>T (p.Leu648Phe) c.1432C>T (p.Leu478Phe) c.*1888C>T (n.*1888C>T) c.3286C>T (p.Leu1096Phe) c.3268C>T (p.Leu1090Phe) | |
| 22 | g.50721123T>A | CA515261218 | SHANK3 | c.2891T>A (p.Leu964His) n.3475T>A c.1943T>A (p.Leu648His) c.1433T>A (p.Leu478His) c.*1889T>A (n.*1889T>A) c.3287T>A (p.Leu1096His) c.3269T>A (p.Leu1090His) | |
| 22 | g.50721123T>C | CA515261219 | SHANK3 | c.2891T>C (p.Leu964Pro) n.3475T>C c.1943T>C (p.Leu648Pro) c.1433T>C (p.Leu478Pro) c.*1889T>C (n.*1889T>C) c.3287T>C (p.Leu1096Pro) c.3269T>C (p.Leu1090Pro) | |
| 22 | g.50721123T>G | CA515261220 | SHANK3 | c.2891T>G (p.Leu964Arg) n.3475T>G c.1943T>G (p.Leu648Arg) c.1433T>G (p.Leu478Arg) c.*1889T>G (n.*1889T>G) c.3287T>G (p.Leu1096Arg) c.3269T>G (p.Leu1090Arg) | |
| 22 | g.50721124C>A | CA515261221 | SHANK3 | c.2892C>A (p.Leu964=) n.3476C>A c.1944C>A (p.Leu648=) c.1434C>A (p.Leu478=) c.*1890C>A (n.*1890C>A) c.3288C>A (p.Leu1096=) c.3270C>A (p.Leu1090=) | gnomAD v4 |
| 22 | g.50721124C= | CA2411008044 | SHANK3 | c.2892C= (p.Leu964=) n.3476C= c.1944C= (p.Leu648=) c.1434C= (p.Leu478=) c.*1890C= (n.*1890C=) c.3288C= (p.Leu1096=) c.3270C= (p.Leu1090=) | |
| 22 | g.50721124C>G | CA515261223 | SHANK3 | c.2892C>G (p.Leu964=) n.3476C>G c.1944C>G (p.Leu648=) c.1434C>G (p.Leu478=) c.*1890C>G (n.*1890C>G) c.3288C>G (p.Leu1096=) c.3270C>G (p.Leu1090=) | |
| 22 | g.50721124C>T | CA515261222 | SHANK3 | c.2892C>T (p.Leu964=) n.3476C>T c.1944C>T (p.Leu648=) c.1434C>T (p.Leu478=) c.*1890C>T (n.*1890C>T) c.3288C>T (p.Leu1096=) c.3270C>T (p.Leu1090=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721125A>C | CA515261224 | SHANK3 | c.2893A>C (p.Thr965Pro) n.3477A>C c.1945A>C (p.Thr649Pro) c.1435A>C (p.Thr479Pro) c.*1891A>C (n.*1891A>C) c.3289A>C (p.Thr1097Pro) c.3271A>C (p.Thr1091Pro) | |
| 22 | g.50721125A>G | CA515261225 | SHANK3 | c.2893A>G (p.Thr965Ala) n.3477A>G c.1945A>G (p.Thr649Ala) c.1435A>G (p.Thr479Ala) c.*1891A>G (n.*1891A>G) c.3289A>G (p.Thr1097Ala) c.3271A>G (p.Thr1091Ala) | gnomAD v4 |
| 22 | g.50721125A>T | CA515261226 | SHANK3 | c.2893A>T (p.Thr965Ser) n.3477A>T c.1945A>T (p.Thr649Ser) c.1435A>T (p.Thr479Ser) c.*1891A>T (n.*1891A>T) c.3289A>T (p.Thr1097Ser) c.3271A>T (p.Thr1091Ser) | |
| 22 | g.50721126C>A | CA515261227 | SHANK3 | c.2894C>A (p.Thr965Asn) n.3478C>A c.1946C>A (p.Thr649Asn) c.1436C>A (p.Thr479Asn) c.*1892C>A (n.*1892C>A) c.3290C>A (p.Thr1097Asn) c.3272C>A (p.Thr1091Asn) | |
| 22 | g.50721126C>G | CA515261228 | SHANK3 | c.2894C>G (p.Thr965Ser) n.3478C>G c.1946C>G (p.Thr649Ser) c.1436C>G (p.Thr479Ser) c.*1892C>G (n.*1892C>G) c.3290C>G (p.Thr1097Ser) c.3272C>G (p.Thr1091Ser) | |
| 22 | g.50721126C>T | CA515261229 | SHANK3 | c.2894C>T (p.Thr965Ile) n.3478C>T c.1946C>T (p.Thr649Ile) c.1436C>T (p.Thr479Ile) c.*1892C>T (n.*1892C>T) c.3290C>T (p.Thr1097Ile) c.3272C>T (p.Thr1091Ile) | gnomAD v4 |
| 22 | g.50721127C>A | CA515261230 | SHANK3 | c.2895C>A (p.Thr965=) n.3479C>A c.1947C>A (p.Thr649=) c.1437C>A (p.Thr479=) c.*1893C>A (n.*1893C>A) c.3291C>A (p.Thr1097=) c.3273C>A (p.Thr1091=) | gnomAD v4 |
| 22 | g.50721127C= | CA2411008045 | SHANK3 | c.2895C= (p.Thr965=) n.3479C= c.1947C= (p.Thr649=) c.1437C= (p.Thr479=) c.*1893C= (n.*1893C=) c.3291C= (p.Thr1097=) c.3273C= (p.Thr1091=) | |
| 22 | g.50721127C>G | CA515261231 | SHANK3 | c.2895C>G (p.Thr965=) n.3479C>G c.1947C>G (p.Thr649=) c.1437C>G (p.Thr479=) c.*1893C>G (n.*1893C>G) c.3291C>G (p.Thr1097=) c.3273C>G (p.Thr1091=) | |
| 22 | g.50721127C>T | CA515261232 | SHANK3 | c.2895C>T (p.Thr965=) n.3479C>T c.1947C>T (p.Thr649=) c.1437C>T (p.Thr479=) c.*1893C>T (n.*1893C>T) c.3291C>T (p.Thr1097=) c.3273C>T (p.Thr1091=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721128G>A | CA515261233 | SHANK3 | c.2896G>A (p.Gly966Ser) n.3480G>A c.1948G>A (p.Gly650Ser) c.1438G>A (p.Gly480Ser) c.*1894G>A (n.*1894G>A) c.3292G>A (p.Gly1098Ser) c.3274G>A (p.Gly1092Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721128G>C | CA515261234 | SHANK3 | c.2896G>C (p.Gly966Arg) n.3480G>C c.1948G>C (p.Gly650Arg) c.1438G>C (p.Gly480Arg) c.*1894G>C (n.*1894G>C) c.3292G>C (p.Gly1098Arg) c.3274G>C (p.Gly1092Arg) | |
| 22 | g.50721128G= | CA2411008046 | SHANK3 | c.2896G= (p.Gly966=) n.3480G= c.1948G= (p.Gly650=) c.1438G= (p.Gly480=) c.*1894G= (n.*1894G=) c.3292G= (p.Gly1098=) c.3274G= (p.Gly1092=) | |
| 22 | g.50721128G>T | CA515261235 | SHANK3 | c.2896G>T (p.Gly966Cys) n.3480G>T c.1948G>T (p.Gly650Cys) c.1438G>T (p.Gly480Cys) c.*1894G>T (n.*1894G>T) c.3292G>T (p.Gly1098Cys) c.3274G>T (p.Gly1092Cys) | gnomAD v4 |
| 22 | g.50721129G>A | CA515261238 | SHANK3 | c.2897G>A (p.Gly966Asp) n.3481G>A c.1949G>A (p.Gly650Asp) c.1439G>A (p.Gly480Asp) c.*1895G>A (n.*1895G>A) c.3293G>A (p.Gly1098Asp) c.3275G>A (p.Gly1092Asp) | gnomAD v4 |
| 22 | g.50721129G>C | CA515261236 | SHANK3 | c.2897G>C (p.Gly966Ala) n.3481G>C c.1949G>C (p.Gly650Ala) c.1439G>C (p.Gly480Ala) c.*1895G>C (n.*1895G>C) c.3293G>C (p.Gly1098Ala) c.3275G>C (p.Gly1092Ala) | gnomAD v4 |
| 22 | g.50721129G>T | CA515261237 | SHANK3 | c.2897G>T (p.Gly966Val) n.3481G>T c.1949G>T (p.Gly650Val) c.1439G>T (p.Gly480Val) c.*1895G>T (n.*1895G>T) c.3293G>T (p.Gly1098Val) c.3275G>T (p.Gly1092Val) | gnomAD v4 |
| 22 | g.50721130C>A | CA515261239 | SHANK3 | c.2898C>A (p.Gly966=) n.3482C>A c.1950C>A (p.Gly650=) c.1440C>A (p.Gly480=) c.*1896C>A (n.*1896C>A) c.3294C>A (p.Gly1098=) c.3276C>A (p.Gly1092=) | gnomAD v4 |
| 22 | g.50721130C>G | CA515261240 | SHANK3 | c.2898C>G (p.Gly966=) n.3482C>G c.1950C>G (p.Gly650=) c.1440C>G (p.Gly480=) c.*1896C>G (n.*1896C>G) c.3294C>G (p.Gly1098=) c.3276C>G (p.Gly1092=) | |
| 22 | g.50721130C>T | CA515261241 | SHANK3 | c.2898C>T (p.Gly966=) n.3482C>T c.1950C>T (p.Gly650=) c.1440C>T (p.Gly480=) c.*1896C>T (n.*1896C>T) c.3294C>T (p.Gly1098=) c.3276C>T (p.Gly1092=) | gnomAD v4 |
| 22 | g.50721131A= | CA2411008047 | SHANK3 | c.2899A= (p.Lys967=) n.3483A= c.1951A= (p.Lys651=) c.1441A= (p.Lys481=) c.*1897A= (n.*1897A=) c.3295A= (p.Lys1099=) c.3277A= (p.Lys1093=) | |
| 22 | g.50721131A>C | CA515261242 | SHANK3 | c.2899A>C (p.Lys967Gln) n.3483A>C c.1951A>C (p.Lys651Gln) c.1441A>C (p.Lys481Gln) c.*1897A>C (n.*1897A>C) c.3295A>C (p.Lys1099Gln) c.3277A>C (p.Lys1093Gln) | gnomAD v4 |
| 22 | g.50721131A>G | CA515261243 | SHANK3 | c.2899A>G (p.Lys967Glu) n.3483A>G c.1951A>G (p.Lys651Glu) c.1441A>G (p.Lys481Glu) c.*1897A>G (n.*1897A>G) c.3295A>G (p.Lys1099Glu) c.3277A>G (p.Lys1093Glu) | dbSNP gnomAD v2 |
| 22 | g.50721131A>T | CA515261244 | SHANK3 | c.2899A>T (p.Lys967Ter) n.3483A>T c.1951A>T (p.Lys651Ter) c.1441A>T (p.Lys481Ter) c.*1897A>T (n.*1897A>T) c.3295A>T (p.Lys1099Ter) c.3277A>T (p.Lys1093Ter) | |
| 22 | g.50721132A>C | CA515261245 | SHANK3 | c.2900A>C (p.Lys967Thr) n.3484A>C c.1952A>C (p.Lys651Thr) c.1442A>C (p.Lys481Thr) c.*1898A>C (n.*1898A>C) c.3296A>C (p.Lys1099Thr) c.3278A>C (p.Lys1093Thr) | gnomAD v4 |
| 22 | g.50721132A>G | CA515261246 | SHANK3 | c.2900A>G (p.Lys967Arg) n.3484A>G c.1952A>G (p.Lys651Arg) c.1442A>G (p.Lys481Arg) c.*1898A>G (n.*1898A>G) c.3296A>G (p.Lys1099Arg) c.3278A>G (p.Lys1093Arg) | |
| 22 | g.50721132A>T | CA515261247 | SHANK3 | c.2900A>T (p.Lys967Ile) n.3484A>T c.1952A>T (p.Lys651Ile) c.1442A>T (p.Lys481Ile) c.*1898A>T (n.*1898A>T) c.3296A>T (p.Lys1099Ile) c.3278A>T (p.Lys1093Ile) | |
| 22 | g.50721132_50721150delinsAACCCCTGGACCCCAGCTC | CA2411008048 | SHANK3 | c.2900_2918delinsAACCCCTGGACCCCAGCTC (p.Lys967=) n.3484_3502delinsAACCCCTGGACCCCAGCTC c.1952_1970delinsAACCCCTGGACCCCAGCTC (p.Lys651=) c.1442_1460delinsAACCCCTGGACCCCAGCTC (p.Lys481=) c.*1898_*1916delinsAACCCCTGGACCCCAGCTC (n.*1898_*1916delinsAACCCCTGGACCCCAGCTC) c.3296_3314delinsAACCCCTGGACCCCAGCTC (p.Lys1099=) c.3278_3296delinsAACCCCTGGACCCCAGCTC (p.Lys1093=) | |
| 22 | g.50721133A= | CA2411008050 | SHANK3 | c.2901A= (p.Lys967=) n.3485A= c.1953A= (p.Lys651=) c.1443A= (p.Lys481=) c.*1899A= (n.*1899A=) c.3297A= (p.Lys1099=) c.3279A= (p.Lys1093=) | |
| 22 | g.50721133A>C | CA515261248 | SHANK3 | c.2901A>C (p.Lys967Asn) n.3485A>C c.1953A>C (p.Lys651Asn) c.1443A>C (p.Lys481Asn) c.*1899A>C (n.*1899A>C) c.3297A>C (p.Lys1099Asn) c.3279A>C (p.Lys1093Asn) | |
| 22 | g.50721133A>G | CA515261249 | SHANK3 | c.2901A>G (p.Lys967=) n.3485A>G c.1953A>G (p.Lys651=) c.1443A>G (p.Lys481=) c.*1899A>G (n.*1899A>G) c.3297A>G (p.Lys1099=) c.3279A>G (p.Lys1093=) | dbSNP gnomAD v4 |
| 22 | g.50721133A>T | CA515261250 | SHANK3 | c.2901A>T (p.Lys967Asn) n.3485A>T c.1953A>T (p.Lys651Asn) c.1443A>T (p.Lys481Asn) c.*1899A>T (n.*1899A>T) c.3297A>T (p.Lys1099Asn) c.3279A>T (p.Lys1093Asn) | |
| 22 | g.50721141_50721158del | CA2411008049 | SHANK3 | c.2909_2926del (p.Asp970_Leu975del) n.3493_3510del c.1961_1978del (p.Asp654_Leu659del) c.1451_1468del (p.Asp484_Leu489del) c.*1907_*1924del (n.*1907_*1924del) c.3305_3322del (p.Asp1102_Leu1107del) c.3287_3304del (p.Asp1096_Leu1101del) | dbSNP |
| 22 | g.50721134C>A | CA515261252 | SHANK3 | c.2902C>A (p.Pro968Thr) n.3486C>A c.1954C>A (p.Pro652Thr) c.1444C>A (p.Pro482Thr) c.*1900C>A (n.*1900C>A) c.3298C>A (p.Pro1100Thr) c.3280C>A (p.Pro1094Thr) | |
| 22 | g.50721134C= | CA2411008051 | SHANK3 | c.2902C= (p.Pro968=) n.3486C= c.1954C= (p.Pro652=) c.1444C= (p.Pro482=) c.*1900C= (n.*1900C=) c.3298C= (p.Pro1100=) c.3280C= (p.Pro1094=) | |
| 22 | g.50721134C>G | CA515261253 | SHANK3 | c.2902C>G (p.Pro968Ala) n.3486C>G c.1954C>G (p.Pro652Ala) c.1444C>G (p.Pro482Ala) c.*1900C>G (n.*1900C>G) c.3298C>G (p.Pro1100Ala) c.3280C>G (p.Pro1094Ala) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721134C>T | CA515261251 | SHANK3 | c.2902C>T (p.Pro968Ser) n.3486C>T c.1954C>T (p.Pro652Ser) c.1444C>T (p.Pro482Ser) c.*1900C>T (n.*1900C>T) c.3298C>T (p.Pro1100Ser) c.3280C>T (p.Pro1094Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721135C>A | CA515261255 | SHANK3 | c.2903C>A (p.Pro968His) n.3487C>A c.1955C>A (p.Pro652His) c.1445C>A (p.Pro482His) c.*1901C>A (n.*1901C>A) c.3299C>A (p.Pro1100His) c.3281C>A (p.Pro1094His) | gnomAD v4 |
| 22 | g.50721135C= | CA2411008052 | SHANK3 | c.2903C= (p.Pro968=) n.3487C= c.1955C= (p.Pro652=) c.1445C= (p.Pro482=) c.*1901C= (n.*1901C=) c.3299C= (p.Pro1100=) c.3281C= (p.Pro1094=) | |
| 22 | g.50721135C>G | CA515261254 | SHANK3 | c.2903C>G (p.Pro968Arg) n.3487C>G c.1955C>G (p.Pro652Arg) c.1445C>G (p.Pro482Arg) c.*1901C>G (n.*1901C>G) c.3299C>G (p.Pro1100Arg) c.3281C>G (p.Pro1094Arg) | |
| 22 | g.50721135C>T | CA10325999 | SHANK3 | c.2903C>T (p.Pro968Leu) n.3487C>T c.1955C>T (p.Pro652Leu) c.1445C>T (p.Pro482Leu) c.*1901C>T (n.*1901C>T) c.3299C>T (p.Pro1100Leu) c.3281C>T (p.Pro1094Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721136C>A | CA515261256 | SHANK3 | c.2904C>A (p.Pro968=) n.3488C>A c.1956C>A (p.Pro652=) c.1446C>A (p.Pro482=) c.*1902C>A (n.*1902C>A) c.3300C>A (p.Pro1100=) c.3282C>A (p.Pro1094=) | |
| 22 | g.50721136C= | CA2411008053 | SHANK3 | c.2904C= (p.Pro968=) n.3488C= c.1956C= (p.Pro652=) c.1446C= (p.Pro482=) c.*1902C= (n.*1902C=) c.3300C= (p.Pro1100=) c.3282C= (p.Pro1094=) | |
| 22 | g.50721136C>G | CA515261257 | SHANK3 | c.2904C>G (p.Pro968=) n.3488C>G c.1956C>G (p.Pro652=) c.1446C>G (p.Pro482=) c.*1902C>G (n.*1902C>G) c.3300C>G (p.Pro1100=) c.3282C>G (p.Pro1094=) | |
| 22 | g.50721136C>T | CA10326000 | SHANK3 | c.2904C>T (p.Pro968=) n.3488C>T c.1956C>T (p.Pro652=) c.1446C>T (p.Pro482=) c.*1902C>T (n.*1902C>T) c.3300C>T (p.Pro1100=) c.3282C>T (p.Pro1094=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721137C>A | CA515261258 | SHANK3 | c.2905C>A (p.Leu969Met) n.3489C>A c.1957C>A (p.Leu653Met) c.1447C>A (p.Leu483Met) c.*1903C>A (n.*1903C>A) c.3301C>A (p.Leu1101Met) c.3283C>A (p.Leu1095Met) | gnomAD v4 |
| 22 | g.50721137C= | CA2411008054 | SHANK3 | c.2905C= (p.Leu969=) n.3489C= c.1957C= (p.Leu653=) c.1447C= (p.Leu483=) c.*1903C= (n.*1903C=) c.3301C= (p.Leu1101=) c.3283C= (p.Leu1095=) | |
| 22 | g.50721137C>G | CA515261259 | SHANK3 | c.2905C>G (p.Leu969Val) n.3489C>G c.1957C>G (p.Leu653Val) c.1447C>G (p.Leu483Val) c.*1903C>G (n.*1903C>G) c.3301C>G (p.Leu1101Val) c.3283C>G (p.Leu1095Val) | |
| 22 | g.50721137C>T | CA325578687 | SHANK3 | c.2905C>T (p.Leu969=) n.3489C>T c.1957C>T (p.Leu653=) c.1447C>T (p.Leu483=) c.*1903C>T (n.*1903C>T) c.3301C>T (p.Leu1101=) c.3283C>T (p.Leu1095=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721138T>A | CA515261260 | SHANK3 | c.2906T>A (p.Leu969Gln) n.3490T>A c.1958T>A (p.Leu653Gln) c.1448T>A (p.Leu483Gln) c.*1904T>A (n.*1904T>A) c.3302T>A (p.Leu1101Gln) c.3284T>A (p.Leu1095Gln) | |
| 22 | g.50721138T>C | CA515261261 | SHANK3 | c.2906T>C (p.Leu969Pro) n.3490T>C c.1958T>C (p.Leu653Pro) c.1448T>C (p.Leu483Pro) c.*1904T>C (n.*1904T>C) c.3302T>C (p.Leu1101Pro) c.3284T>C (p.Leu1095Pro) | |
| 22 | g.50721138T>G | CA515261262 | SHANK3 | c.2906T>G (p.Leu969Arg) n.3490T>G c.1958T>G (p.Leu653Arg) c.1448T>G (p.Leu483Arg) c.*1904T>G (n.*1904T>G) c.3302T>G (p.Leu1101Arg) c.3284T>G (p.Leu1095Arg) | gnomAD v4 |
| 22 | g.50721139G>A | CA515261263 | SHANK3 | c.2907G>A (p.Leu969=) n.3491G>A c.1959G>A (p.Leu653=) c.1449G>A (p.Leu483=) c.*1905G>A (n.*1905G>A) c.3303G>A (p.Leu1101=) c.3285G>A (p.Leu1095=) | gnomAD v4 |
| 22 | g.50721139G>C | CA515261264 | SHANK3 | c.2907G>C (p.Leu969=) n.3491G>C c.1959G>C (p.Leu653=) c.1449G>C (p.Leu483=) c.*1905G>C (n.*1905G>C) c.3303G>C (p.Leu1101=) c.3285G>C (p.Leu1095=) | |
| 22 | g.50721139G>T | CA515261265 | SHANK3 | c.2907G>T (p.Leu969=) n.3491G>T c.1959G>T (p.Leu653=) c.1449G>T (p.Leu483=) c.*1905G>T (n.*1905G>T) c.3303G>T (p.Leu1101=) c.3285G>T (p.Leu1095=) | gnomAD v4 |
| 22 | g.50721140G>A | CA515261266 | SHANK3 | c.2908G>A (p.Asp970Asn) n.3492G>A c.1960G>A (p.Asp654Asn) c.1450G>A (p.Asp484Asn) c.*1906G>A (n.*1906G>A) c.3304G>A (p.Asp1102Asn) c.3286G>A (p.Asp1096Asn) | |
| 22 | g.50721140G>C | CA515261267 | SHANK3 | c.2908G>C (p.Asp970His) n.3492G>C c.1960G>C (p.Asp654His) c.1450G>C (p.Asp484His) c.*1906G>C (n.*1906G>C) c.3304G>C (p.Asp1102His) c.3286G>C (p.Asp1096His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721140G= | CA2411008055 | SHANK3 | c.2908G= (p.Asp970=) n.3492G= c.1960G= (p.Asp654=) c.1450G= (p.Asp484=) c.*1906G= (n.*1906G=) c.3304G= (p.Asp1102=) c.3286G= (p.Asp1096=) | |
| 22 | g.50721140G>T | CA515261268 | SHANK3 | c.2908G>T (p.Asp970Tyr) n.3492G>T c.1960G>T (p.Asp654Tyr) c.1450G>T (p.Asp484Tyr) c.*1906G>T (n.*1906G>T) c.3304G>T (p.Asp1102Tyr) c.3286G>T (p.Asp1096Tyr) | gnomAD v4 |
| 22 | g.50721141A>C | CA515261269 | SHANK3 | c.2909A>C (p.Asp970Ala) n.3493A>C c.1961A>C (p.Asp654Ala) c.1451A>C (p.Asp484Ala) c.*1907A>C (n.*1907A>C) c.3305A>C (p.Asp1102Ala) c.3287A>C (p.Asp1096Ala) | |
| 22 | g.50721141A>G | CA515261270 | SHANK3 | c.2909A>G (p.Asp970Gly) n.3493A>G c.1961A>G (p.Asp654Gly) c.1451A>G (p.Asp484Gly) c.*1907A>G (n.*1907A>G) c.3305A>G (p.Asp1102Gly) c.3287A>G (p.Asp1096Gly) | |
| 22 | g.50721141A>T | CA515261271 | SHANK3 | c.2909A>T (p.Asp970Val) n.3493A>T c.1961A>T (p.Asp654Val) c.1451A>T (p.Asp484Val) c.*1907A>T (n.*1907A>T) c.3305A>T (p.Asp1102Val) c.3287A>T (p.Asp1096Val) | |
| 22 | g.50721142C>A | CA515261272 | SHANK3 | c.2910C>A (p.Asp970Glu) n.3494C>A c.1962C>A (p.Asp654Glu) c.1452C>A (p.Asp484Glu) c.*1908C>A (n.*1908C>A) c.3306C>A (p.Asp1102Glu) c.3288C>A (p.Asp1096Glu) | gnomAD v4 |
| 22 | g.50721142C= | CA2411008056 | SHANK3 | c.2910C= (p.Asp970=) n.3494C= c.1962C= (p.Asp654=) c.1452C= (p.Asp484=) c.*1908C= (n.*1908C=) c.3306C= (p.Asp1102=) c.3288C= (p.Asp1096=) | |
| 22 | g.50721142C>G | CA515261273 | SHANK3 | c.2910C>G (p.Asp970Glu) n.3494C>G c.1962C>G (p.Asp654Glu) c.1452C>G (p.Asp484Glu) c.*1908C>G (n.*1908C>G) c.3306C>G (p.Asp1102Glu) c.3288C>G (p.Asp1096Glu) | gnomAD v4 |
| 22 | g.50721142C>T | CA10326001 | SHANK3 | c.2910C>T (p.Asp970=) n.3494C>T c.1962C>T (p.Asp654=) c.1452C>T (p.Asp484=) c.*1908C>T (n.*1908C>T) c.3306C>T (p.Asp1102=) c.3288C>T (p.Asp1096=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721145del | CA2657583428 | SHANK3 | c.2913del (p.Ser972AlafsTer?) n.3497del c.1965del (p.Ser656AlafsTer?) c.1455del (p.Ser486AlafsTer?) c.*1911del (n.*1911del) c.3309del (p.Ser1104AlafsTer?) c.3291del (p.Ser1098AlafsTer?) | gnomAD v4 |
| 22 | g.50721143C>A | CA515261274 | SHANK3 | c.2911C>A (p.Pro971Thr) n.3495C>A c.1963C>A (p.Pro655Thr) c.1453C>A (p.Pro485Thr) c.*1909C>A (n.*1909C>A) c.3307C>A (p.Pro1103Thr) c.3289C>A (p.Pro1097Thr) | gnomAD v4 |
| 22 | g.50721143C>G | CA515261275 | SHANK3 | c.2911C>G (p.Pro971Ala) n.3495C>G c.1963C>G (p.Pro655Ala) c.1453C>G (p.Pro485Ala) c.*1909C>G (n.*1909C>G) c.3307C>G (p.Pro1103Ala) c.3289C>G (p.Pro1097Ala) | |
| 22 | g.50721143C>T | CA515261276 | SHANK3 | c.2911C>T (p.Pro971Ser) n.3495C>T c.1963C>T (p.Pro655Ser) c.1453C>T (p.Pro485Ser) c.*1909C>T (n.*1909C>T) c.3307C>T (p.Pro1103Ser) c.3289C>T (p.Pro1097Ser) | gnomAD v4 |
| 22 | g.50721144C>A | CA515261277 | SHANK3 | c.2912C>A (p.Pro971His) n.3496C>A c.1964C>A (p.Pro655His) c.1454C>A (p.Pro485His) c.*1910C>A (n.*1910C>A) c.3308C>A (p.Pro1103His) c.3290C>A (p.Pro1097His) | |
| 22 | g.50721144C= | CA2411008057 | SHANK3 | c.2912C= (p.Pro971=) n.3496C= c.1964C= (p.Pro655=) c.1454C= (p.Pro485=) c.*1910C= (n.*1910C=) c.3308C= (p.Pro1103=) c.3290C= (p.Pro1097=) | |
| 22 | g.50721144C>G | CA515261278 | SHANK3 | c.2912C>G (p.Pro971Arg) n.3496C>G c.1964C>G (p.Pro655Arg) c.1454C>G (p.Pro485Arg) c.*1910C>G (n.*1910C>G) c.3308C>G (p.Pro1103Arg) c.3290C>G (p.Pro1097Arg) | gnomAD v4 |
| 22 | g.50721144C>T | CA515261279 | SHANK3 | c.2912C>T (p.Pro971Leu) n.3496C>T c.1964C>T (p.Pro655Leu) c.1454C>T (p.Pro485Leu) c.*1910C>T (n.*1910C>T) c.3308C>T (p.Pro1103Leu) c.3290C>T (p.Pro1097Leu) | dbSNP gnomAD v2 COSMIC COSMIC |
| 22 | g.50721145C>A | CA515261280 | SHANK3 | c.2913C>A (p.Pro971=) n.3497C>A c.1965C>A (p.Pro655=) c.1455C>A (p.Pro485=) c.*1911C>A (n.*1911C>A) c.3309C>A (p.Pro1103=) c.3291C>A (p.Pro1097=) | gnomAD v4 |
| 22 | g.50721145C= | CA2411008058 | SHANK3 | c.2913C= (p.Pro971=) n.3497C= c.1965C= (p.Pro655=) c.1455C= (p.Pro485=) c.*1911C= (n.*1911C=) c.3309C= (p.Pro1103=) c.3291C= (p.Pro1097=) | |
| 22 | g.50721145C>G | CA515261281 | SHANK3 | c.2913C>G (p.Pro971=) n.3497C>G c.1965C>G (p.Pro655=) c.1455C>G (p.Pro485=) c.*1911C>G (n.*1911C>G) c.3309C>G (p.Pro1103=) c.3291C>G (p.Pro1097=) | |
| 22 | g.50721145C>T | CA515261282 | SHANK3 | c.2913C>T (p.Pro971=) n.3497C>T c.1965C>T (p.Pro655=) c.1455C>T (p.Pro485=) c.*1911C>T (n.*1911C>T) c.3309C>T (p.Pro1103=) c.3291C>T (p.Pro1097=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721146A>C | CA515261284 | SHANK3 | c.2914A>C (p.Ser972Arg) n.3498A>C c.1966A>C (p.Ser656Arg) c.1456A>C (p.Ser486Arg) c.*1912A>C (n.*1912A>C) c.3310A>C (p.Ser1104Arg) c.3292A>C (p.Ser1098Arg) | gnomAD v4 |
| 22 | g.50721146A>G | CA515261285 | SHANK3 | c.2914A>G (p.Ser972Gly) n.3498A>G c.1966A>G (p.Ser656Gly) c.1456A>G (p.Ser486Gly) c.*1912A>G (n.*1912A>G) c.3310A>G (p.Ser1104Gly) c.3292A>G (p.Ser1098Gly) | gnomAD v4 |
| 22 | g.50721146A>T | CA515261283 | SHANK3 | c.2914A>T (p.Ser972Cys) n.3498A>T c.1966A>T (p.Ser656Cys) c.1456A>T (p.Ser486Cys) c.*1912A>T (n.*1912A>T) c.3310A>T (p.Ser1104Cys) c.3292A>T (p.Ser1098Cys) | |
| 22 | g.50721147G>A | CA325578693 | SHANK3 | c.2915G>A (p.Ser972Asn) n.3499G>A c.1967G>A (p.Ser656Asn) c.1457G>A (p.Ser486Asn) c.*1913G>A (n.*1913G>A) c.3311G>A (p.Ser1104Asn) c.3293G>A (p.Ser1098Asn) | dbSNP gnomAD v4 |
| 22 | g.50721147G>C | CA515261286 | SHANK3 | c.2915G>C (p.Ser972Thr) n.3499G>C c.1967G>C (p.Ser656Thr) c.1457G>C (p.Ser486Thr) c.*1913G>C (n.*1913G>C) c.3311G>C (p.Ser1104Thr) c.3293G>C (p.Ser1098Thr) | dbSNP gnomAD v2 |
| 22 | g.50721147G= | CA2411008059 | SHANK3 | c.2915G= (p.Ser972=) n.3499G= c.1967G= (p.Ser656=) c.1457G= (p.Ser486=) c.*1913G= (n.*1913G=) c.3311G= (p.Ser1104=) c.3293G= (p.Ser1098=) | |
| 22 | g.50721147G>T | CA515261287 | SHANK3 | c.2915G>T (p.Ser972Ile) n.3499G>T c.1967G>T (p.Ser656Ile) c.1457G>T (p.Ser486Ile) c.*1913G>T (n.*1913G>T) c.3311G>T (p.Ser1104Ile) c.3293G>T (p.Ser1098Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721148C>A | CA515261288 | SHANK3 | c.2916C>A (p.Ser972Arg) n.3500C>A c.1968C>A (p.Ser656Arg) c.1458C>A (p.Ser486Arg) c.*1914C>A (n.*1914C>A) c.3312C>A (p.Ser1104Arg) c.3294C>A (p.Ser1098Arg) | gnomAD v4 |
| 22 | g.50721148C= | CA2411008060 | SHANK3 | c.2916C= (p.Ser972=) n.3500C= c.1968C= (p.Ser656=) c.1458C= (p.Ser486=) c.*1914C= (n.*1914C=) c.3312C= (p.Ser1104=) c.3294C= (p.Ser1098=) | |
| 22 | g.50721148C>G | CA515261289 | SHANK3 | c.2916C>G (p.Ser972Arg) n.3500C>G c.1968C>G (p.Ser656Arg) c.1458C>G (p.Ser486Arg) c.*1914C>G (n.*1914C>G) c.3312C>G (p.Ser1104Arg) c.3294C>G (p.Ser1098Arg) | gnomAD v4 |
| 22 | g.50721148C>T | CA515261290 | SHANK3 | c.2916C>T (p.Ser972=) n.3500C>T c.1968C>T (p.Ser656=) c.1458C>T (p.Ser486=) c.*1914C>T (n.*1914C>T) c.3312C>T (p.Ser1104=) c.3294C>T (p.Ser1098=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721149T>A | CA515261291 | SHANK3 | c.2917T>A (p.Ser973Thr) n.3501T>A c.1969T>A (p.Ser657Thr) c.1459T>A (p.Ser487Thr) c.*1915T>A (n.*1915T>A) c.3313T>A (p.Ser1105Thr) c.3295T>A (p.Ser1099Thr) | |
| 22 | g.50721149T>C | CA515261292 | SHANK3 | c.2917T>C (p.Ser973Pro) n.3501T>C c.1969T>C (p.Ser657Pro) c.1459T>C (p.Ser487Pro) c.*1915T>C (n.*1915T>C) c.3313T>C (p.Ser1105Pro) c.3295T>C (p.Ser1099Pro) | |
| 22 | g.50721149T>G | CA515261293 | SHANK3 | c.2917T>G (p.Ser973Ala) n.3501T>G c.1969T>G (p.Ser657Ala) c.1459T>G (p.Ser487Ala) c.*1915T>G (n.*1915T>G) c.3313T>G (p.Ser1105Ala) c.3295T>G (p.Ser1099Ala) | |
| 22 | g.50721150C>A | CA515261294 | SHANK3 | c.2918C>A (p.Ser973Ter) n.3502C>A c.1970C>A (p.Ser657Ter) c.1460C>A (p.Ser487Ter) c.*1916C>A (n.*1916C>A) c.3314C>A (p.Ser1105Ter) c.3296C>A (p.Ser1099Ter) | gnomAD v4 |
| 22 | g.50721150C>G | CA515261295 | SHANK3 | c.2918C>G (p.Ser973Ter) n.3502C>G c.1970C>G (p.Ser657Ter) c.1460C>G (p.Ser487Ter) c.*1916C>G (n.*1916C>G) c.3314C>G (p.Ser1105Ter) c.3296C>G (p.Ser1099Ter) | |
| 22 | g.50721150C>T | CA515261296 | SHANK3 | c.2918C>T (p.Ser973Leu) n.3502C>T c.1970C>T (p.Ser657Leu) c.1460C>T (p.Ser487Leu) c.*1916C>T (n.*1916C>T) c.3314C>T (p.Ser1105Leu) c.3296C>T (p.Ser1099Leu) | gnomAD v4 |
| 22 | g.50721151A>C | CA515261299 | SHANK3 | c.2919A>C (p.Ser973=) n.3503A>C c.1971A>C (p.Ser657=) c.1461A>C (p.Ser487=) c.*1917A>C (n.*1917A>C) c.3315A>C (p.Ser1105=) c.3297A>C (p.Ser1099=) | |
| 22 | g.50721151A>G | CA515261297 | SHANK3 | c.2919A>G (p.Ser973=) n.3503A>G c.1971A>G (p.Ser657=) c.1461A>G (p.Ser487=) c.*1917A>G (n.*1917A>G) c.3315A>G (p.Ser1105=) c.3297A>G (p.Ser1099=) | |
| 22 | g.50721151A>T | CA515261298 | SHANK3 | c.2919A>T (p.Ser973=) n.3503A>T c.1971A>T (p.Ser657=) c.1461A>T (p.Ser487=) c.*1917A>T (n.*1917A>T) c.3315A>T (p.Ser1105=) c.3297A>T (p.Ser1099=) | |
| 22 | g.50721152C>A | CA515261300 | SHANK3 | c.2920C>A (p.Pro974Thr) n.3504C>A c.1972C>A (p.Pro658Thr) c.1462C>A (p.Pro488Thr) c.*1918C>A (n.*1918C>A) c.3316C>A (p.Pro1106Thr) c.3298C>A (p.Pro1100Thr) | gnomAD v4 |
| 22 | g.50721152C>G | CA515261301 | SHANK3 | c.2920C>G (p.Pro974Ala) n.3504C>G c.1972C>G (p.Pro658Ala) c.1462C>G (p.Pro488Ala) c.*1918C>G (n.*1918C>G) c.3316C>G (p.Pro1106Ala) c.3298C>G (p.Pro1100Ala) | |
| 22 | g.50721152C>T | CA515261302 | SHANK3 | c.2920C>T (p.Pro974Ser) n.3504C>T c.1972C>T (p.Pro658Ser) c.1462C>T (p.Pro488Ser) c.*1918C>T (n.*1918C>T) c.3316C>T (p.Pro1106Ser) c.3298C>T (p.Pro1100Ser) | |
| 22 | g.50721153C>A | CA515261303 | SHANK3 | c.2921C>A (p.Pro974His) n.3505C>A c.1973C>A (p.Pro658His) c.1463C>A (p.Pro488His) c.*1919C>A (n.*1919C>A) c.3317C>A (p.Pro1106His) c.3299C>A (p.Pro1100His) | gnomAD v4 |
| 22 | g.50721153C>G | CA515261304 | SHANK3 | c.2921C>G (p.Pro974Arg) n.3505C>G c.1973C>G (p.Pro658Arg) c.1463C>G (p.Pro488Arg) c.*1919C>G (n.*1919C>G) c.3317C>G (p.Pro1106Arg) c.3299C>G (p.Pro1100Arg) | |
| 22 | g.50721153C>T | CA515261305 | SHANK3 | c.2921C>T (p.Pro974Leu) n.3505C>T c.1973C>T (p.Pro658Leu) c.1463C>T (p.Pro488Leu) c.*1919C>T (n.*1919C>T) c.3317C>T (p.Pro1106Leu) c.3299C>T (p.Pro1100Leu) | gnomAD v4 |
| 22 | g.50721154C>A | CA515261306 | SHANK3 | c.2922C>A (p.Pro974=) n.3506C>A c.1974C>A (p.Pro658=) c.1464C>A (p.Pro488=) c.*1920C>A (n.*1920C>A) c.3318C>A (p.Pro1106=) c.3300C>A (p.Pro1100=) | gnomAD v4 |
| 22 | g.50721154C= | CA2411008061 | SHANK3 | c.2922C= (p.Pro974=) n.3506C= c.1974C= (p.Pro658=) c.1464C= (p.Pro488=) c.*1920C= (n.*1920C=) c.3318C= (p.Pro1106=) c.3300C= (p.Pro1100=) | |
| 22 | g.50721154C>G | CA515261307 | SHANK3 | c.2922C>G (p.Pro974=) n.3506C>G c.1974C>G (p.Pro658=) c.1464C>G (p.Pro488=) c.*1920C>G (n.*1920C>G) c.3318C>G (p.Pro1106=) c.3300C>G (p.Pro1100=) | |
| 22 | g.50721154C>T | CA515261308 | SHANK3 | c.2922C>T (p.Pro974=) n.3506C>T c.1974C>T (p.Pro658=) c.1464C>T (p.Pro488=) c.*1920C>T (n.*1920C>T) c.3318C>T (p.Pro1106=) c.3300C>T (p.Pro1100=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721155C>A | CA515261309 | SHANK3 | c.2923C>A (p.Leu975Met) n.3507C>A c.1975C>A (p.Leu659Met) c.1465C>A (p.Leu489Met) c.*1921C>A (n.*1921C>A) c.3319C>A (p.Leu1107Met) c.3301C>A (p.Leu1101Met) | gnomAD v4 |
| 22 | g.50721155C= | CA2411008062 | SHANK3 | c.2923C= (p.Leu975=) n.3507C= c.1975C= (p.Leu659=) c.1465C= (p.Leu489=) c.*1921C= (n.*1921C=) c.3319C= (p.Leu1107=) c.3301C= (p.Leu1101=) | |
| 22 | g.50721155C>G | CA515261310 | SHANK3 | c.2923C>G (p.Leu975Val) n.3507C>G c.1975C>G (p.Leu659Val) c.1465C>G (p.Leu489Val) c.*1921C>G (n.*1921C>G) c.3319C>G (p.Leu1107Val) c.3301C>G (p.Leu1101Val) | |
| 22 | g.50721155C>T | CA10326002 | SHANK3 | c.2923C>T (p.Leu975=) n.3507C>T c.1975C>T (p.Leu659=) c.1465C>T (p.Leu489=) c.*1921C>T (n.*1921C>T) c.3319C>T (p.Leu1107=) c.3301C>T (p.Leu1101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721156T>A | CA515261313 | SHANK3 | c.2924T>A (p.Leu975Gln) n.3508T>A c.1976T>A (p.Leu659Gln) c.1466T>A (p.Leu489Gln) c.*1922T>A (n.*1922T>A) c.3320T>A (p.Leu1107Gln) c.3302T>A (p.Leu1101Gln) | |
| 22 | g.50721156T>C | CA515261312 | SHANK3 | c.2924T>C (p.Leu975Pro) n.3508T>C c.1976T>C (p.Leu659Pro) c.1466T>C (p.Leu489Pro) c.*1922T>C (n.*1922T>C) c.3320T>C (p.Leu1107Pro) c.3302T>C (p.Leu1101Pro) | gnomAD v4 |
| 22 | g.50721156T>G | CA515261311 | SHANK3 | c.2924T>G (p.Leu975Arg) n.3508T>G c.1976T>G (p.Leu659Arg) c.1466T>G (p.Leu489Arg) c.*1922T>G (n.*1922T>G) c.3320T>G (p.Leu1107Arg) c.3302T>G (p.Leu1101Arg) | |
| 22 | g.50721157G>A | CA515261314 | SHANK3 | c.2925G>A (p.Leu975=) n.3509G>A c.1977G>A (p.Leu659=) c.1467G>A (p.Leu489=) c.*1923G>A (n.*1923G>A) c.3321G>A (p.Leu1107=) c.3303G>A (p.Leu1101=) | gnomAD v4 |
| 22 | g.50721157G>C | CA515261315 | SHANK3 | c.2925G>C (p.Leu975=) n.3509G>C c.1977G>C (p.Leu659=) c.1467G>C (p.Leu489=) c.*1923G>C (n.*1923G>C) c.3321G>C (p.Leu1107=) c.3303G>C (p.Leu1101=) | |
| 22 | g.50721157G>T | CA515261316 | SHANK3 | c.2925G>T (p.Leu975=) n.3509G>T c.1977G>T (p.Leu659=) c.1467G>T (p.Leu489=) c.*1923G>T (n.*1923G>T) c.3321G>T (p.Leu1107=) c.3303G>T (p.Leu1101=) | gnomAD v4 |
| 22 | g.50721158G>A | CA515261317 | SHANK3 | c.2926G>A (p.Ala976Thr) n.3510G>A c.1978G>A (p.Ala660Thr) c.1468G>A (p.Ala490Thr) c.*1924G>A (n.*1924G>A) c.3322G>A (p.Ala1108Thr) c.3304G>A (p.Ala1102Thr) | gnomAD v4 |
| 22 | g.50721158G>C | CA515261318 | SHANK3 | c.2926G>C (p.Ala976Pro) n.3510G>C c.1978G>C (p.Ala660Pro) c.1468G>C (p.Ala490Pro) c.*1924G>C (n.*1924G>C) c.3322G>C (p.Ala1108Pro) c.3304G>C (p.Ala1102Pro) | |
| 22 | g.50721158G>T | CA515261319 | SHANK3 | c.2926G>T (p.Ala976Ser) n.3510G>T c.1978G>T (p.Ala660Ser) c.1468G>T (p.Ala490Ser) c.*1924G>T (n.*1924G>T) c.3322G>T (p.Ala1108Ser) c.3304G>T (p.Ala1102Ser) | gnomAD v4 |
| 22 | g.50721159C>A | CA515261322 | SHANK3 | c.2927C>A (p.Ala976Asp) n.3511C>A c.1979C>A (p.Ala660Asp) c.1469C>A (p.Ala490Asp) c.*1925C>A (n.*1925C>A) c.3323C>A (p.Ala1108Asp) c.3305C>A (p.Ala1102Asp) | gnomAD v4 |
| 22 | g.50721159C>G | CA515261321 | SHANK3 | c.2927C>G (p.Ala976Gly) n.3511C>G c.1979C>G (p.Ala660Gly) c.1469C>G (p.Ala490Gly) c.*1925C>G (n.*1925C>G) c.3323C>G (p.Ala1108Gly) c.3305C>G (p.Ala1102Gly) | |
| 22 | g.50721159C>T | CA515261320 | SHANK3 | c.2927C>T (p.Ala976Val) n.3511C>T c.1979C>T (p.Ala660Val) c.1469C>T (p.Ala490Val) c.*1925C>T (n.*1925C>T) c.3323C>T (p.Ala1108Val) c.3305C>T (p.Ala1102Val) | gnomAD v4 |
| 22 | g.50721160C>A | CA515261323 | SHANK3 | c.2928C>A (p.Ala976=) n.3512C>A c.1980C>A (p.Ala660=) c.1470C>A (p.Ala490=) c.*1926C>A (n.*1926C>A) c.3324C>A (p.Ala1108=) c.3306C>A (p.Ala1102=) | gnomAD v4 |
| 22 | g.50721160C= | CA2411008063 | SHANK3 | c.2928C= (p.Ala976=) n.3512C= c.1980C= (p.Ala660=) c.1470C= (p.Ala490=) c.*1926C= (n.*1926C=) c.3324C= (p.Ala1108=) c.3306C= (p.Ala1102=) | |
| 22 | g.50721160C>G | CA515261324 | SHANK3 | c.2928C>G (p.Ala976=) n.3512C>G c.1980C>G (p.Ala660=) c.1470C>G (p.Ala490=) c.*1926C>G (n.*1926C>G) c.3324C>G (p.Ala1108=) c.3306C>G (p.Ala1102=) | |
| 22 | g.50721160C>T | CA515261325 | SHANK3 | c.2928C>T (p.Ala976=) n.3512C>T c.1980C>T (p.Ala660=) c.1470C>T (p.Ala490=) c.*1926C>T (n.*1926C>T) c.3324C>T (p.Ala1108=) c.3306C>T (p.Ala1102=) | dbSNP gnomAD v4 |
| 22 | g.50721161C>A | CA515261326 | SHANK3 | c.2929C>A (p.Leu977Ile) n.3513C>A c.1981C>A (p.Leu661Ile) c.1471C>A (p.Leu491Ile) c.*1927C>A (n.*1927C>A) c.3325C>A (p.Leu1109Ile) c.3307C>A (p.Leu1103Ile) | gnomAD v4 |
| 22 | g.50721161C>G | CA515261327 | SHANK3 | c.2929C>G (p.Leu977Val) n.3513C>G c.1981C>G (p.Leu661Val) c.1471C>G (p.Leu491Val) c.*1927C>G (n.*1927C>G) c.3325C>G (p.Leu1109Val) c.3307C>G (p.Leu1103Val) | |
| 22 | g.50721161C>T | CA515261328 | SHANK3 | c.2929C>T (p.Leu977Phe) n.3513C>T c.1981C>T (p.Leu661Phe) c.1471C>T (p.Leu491Phe) c.*1927C>T (n.*1927C>T) c.3325C>T (p.Leu1109Phe) c.3307C>T (p.Leu1103Phe) | gnomAD v4 |
| 22 | g.50721162T>A | CA515261329 | SHANK3 | c.2930T>A (p.Leu977His) n.3514T>A c.1982T>A (p.Leu661His) c.1472T>A (p.Leu491His) c.*1928T>A (n.*1928T>A) c.3326T>A (p.Leu1109His) c.3308T>A (p.Leu1103His) | gnomAD v4 |
| 22 | g.50721162T>C | CA515261331 | SHANK3 | c.2930T>C (p.Leu977Pro) n.3514T>C c.1982T>C (p.Leu661Pro) c.1472T>C (p.Leu491Pro) c.*1928T>C (n.*1928T>C) c.3326T>C (p.Leu1109Pro) c.3308T>C (p.Leu1103Pro) | gnomAD v4 |
| 22 | g.50721162T>G | CA515261330 | SHANK3 | c.2930T>G (p.Leu977Arg) n.3514T>G c.1982T>G (p.Leu661Arg) c.1472T>G (p.Leu491Arg) c.*1928T>G (n.*1928T>G) c.3326T>G (p.Leu1109Arg) c.3308T>G (p.Leu1103Arg) | |
| 22 | g.50721162_50721164del | CA2657580531 | SHANK3 | c.2930_2932del (p.Leu977_Ala978delinsPro) n.3514_3516del c.1982_1984del (p.Leu661_Ala662delinsPro) c.1472_1474del (p.Leu491_Ala492delinsPro) c.*1928_*1930del (n.*1928_*1930del) c.3326_3328del (p.Leu1109_Ala1110delinsPro) c.3308_3310del (p.Leu1103_Ala1104delinsPro) | gnomAD v4 |
| 22 | g.50721163T>A | CA515261332 | SHANK3 | c.2931T>A (p.Leu977=) n.3515T>A c.1983T>A (p.Leu661=) c.1473T>A (p.Leu491=) c.*1929T>A (n.*1929T>A) c.3327T>A (p.Leu1109=) c.3309T>A (p.Leu1103=) | |
| 22 | g.50721163T>C | CA515261333 | SHANK3 | c.2931T>C (p.Leu977=) n.3515T>C c.1983T>C (p.Leu661=) c.1473T>C (p.Leu491=) c.*1929T>C (n.*1929T>C) c.3327T>C (p.Leu1109=) c.3309T>C (p.Leu1103=) | gnomAD v4 |
| 22 | g.50721163T>G | CA515261334 | SHANK3 | c.2931T>G (p.Leu977=) n.3515T>G c.1983T>G (p.Leu661=) c.1473T>G (p.Leu491=) c.*1929T>G (n.*1929T>G) c.3327T>G (p.Leu1109=) c.3309T>G (p.Leu1103=) | |
| 22 | g.50721164G>A | CA515261335 | SHANK3 | c.2932G>A (p.Ala978Thr) n.3516G>A c.1984G>A (p.Ala662Thr) c.1474G>A (p.Ala492Thr) c.*1930G>A (n.*1930G>A) c.3328G>A (p.Ala1110Thr) c.3310G>A (p.Ala1104Thr) | gnomAD v4 |
| 22 | g.50721164G>C | CA515261336 | SHANK3 | c.2932G>C (p.Ala978Pro) n.3516G>C c.1984G>C (p.Ala662Pro) c.1474G>C (p.Ala492Pro) c.*1930G>C (n.*1930G>C) c.3328G>C (p.Ala1110Pro) c.3310G>C (p.Ala1104Pro) | |
| 22 | g.50721164G= | CA2411008064 | SHANK3 | c.2932G= (p.Ala978=) n.3516G= c.1984G= (p.Ala662=) c.1474G= (p.Ala492=) c.*1930G= (n.*1930G=) c.3328G= (p.Ala1110=) c.3310G= (p.Ala1104=) | |
| 22 | g.50721164G>T | CA515261337 | SHANK3 | c.2932G>T (p.Ala978Ser) n.3516G>T c.1984G>T (p.Ala662Ser) c.1474G>T (p.Ala492Ser) c.*1930G>T (n.*1930G>T) c.3328G>T (p.Ala1110Ser) c.3310G>T (p.Ala1104Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721165C>A | CA515261338 | SHANK3 | c.2933C>A (p.Ala978Asp) n.3517C>A c.1985C>A (p.Ala662Asp) c.1475C>A (p.Ala492Asp) c.*1931C>A (n.*1931C>A) c.3329C>A (p.Ala1110Asp) c.3311C>A (p.Ala1104Asp) | gnomAD v4 |
| 22 | g.50721165C= | CA2411008065 | SHANK3 | c.2933C= (p.Ala978=) n.3517C= c.1985C= (p.Ala662=) c.1475C= (p.Ala492=) c.*1931C= (n.*1931C=) c.3329C= (p.Ala1110=) c.3311C= (p.Ala1104=) | |
| 22 | g.50721165C>G | CA515261339 | SHANK3 | c.2933C>G (p.Ala978Gly) n.3517C>G c.1985C>G (p.Ala662Gly) c.1475C>G (p.Ala492Gly) c.*1931C>G (n.*1931C>G) c.3329C>G (p.Ala1110Gly) c.3311C>G (p.Ala1104Gly) | |
| 22 | g.50721165C>T | CA10326003 | SHANK3 | c.2933C>T (p.Ala978Val) n.3517C>T c.1985C>T (p.Ala662Val) c.1475C>T (p.Ala492Val) c.*1931C>T (n.*1931C>T) c.3329C>T (p.Ala1110Val) c.3311C>T (p.Ala1104Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721166C>A | CA515261340 | SHANK3 | c.2934C>A (p.Ala978=) n.3518C>A c.1986C>A (p.Ala662=) c.1476C>A (p.Ala492=) c.*1932C>A (n.*1932C>A) c.3330C>A (p.Ala1110=) c.3312C>A (p.Ala1104=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721166C= | CA2411008066 | SHANK3 | c.2934C= (p.Ala978=) n.3518C= c.1986C= (p.Ala662=) c.1476C= (p.Ala492=) c.*1932C= (n.*1932C=) c.3330C= (p.Ala1110=) c.3312C= (p.Ala1104=) | |
| 22 | g.50721166C>G | CA515261341 | SHANK3 | c.2934C>G (p.Ala978=) n.3518C>G c.1986C>G (p.Ala662=) c.1476C>G (p.Ala492=) c.*1932C>G (n.*1932C>G) c.3330C>G (p.Ala1110=) c.3312C>G (p.Ala1104=) | gnomAD v4 |
| 22 | g.50721166C>T | CA325578706 | SHANK3 | c.2934C>T (p.Ala978=) n.3518C>T c.1986C>T (p.Ala662=) c.1476C>T (p.Ala492=) c.*1932C>T (n.*1932C>T) c.3330C>T (p.Ala1110=) c.3312C>T (p.Ala1104=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721167C>A | CA515261342 | SHANK3 | c.2935C>A (p.Leu979Met) n.3519C>A c.1987C>A (p.Leu663Met) c.1477C>A (p.Leu493Met) c.*1933C>A (n.*1933C>A) c.3331C>A (p.Leu1111Met) c.3313C>A (p.Leu1105Met) | gnomAD v4 |
| 22 | g.50721167C= | CA2411008067 | SHANK3 | c.2935C= (p.Leu979=) n.3519C= c.1987C= (p.Leu663=) c.1477C= (p.Leu493=) c.*1933C= (n.*1933C=) c.3331C= (p.Leu1111=) c.3313C= (p.Leu1105=) | |
| 22 | g.50721167C>G | CA515261343 | SHANK3 | c.2935C>G (p.Leu979Val) n.3519C>G c.1987C>G (p.Leu663Val) c.1477C>G (p.Leu493Val) c.*1933C>G (n.*1933C>G) c.3331C>G (p.Leu1111Val) c.3313C>G (p.Leu1105Val) | |
| 22 | g.50721167C>T | CA10326004 | SHANK3 | c.2935C>T (p.Leu979=) n.3519C>T c.1987C>T (p.Leu663=) c.1477C>T (p.Leu493=) c.*1933C>T (n.*1933C>T) c.3331C>T (p.Leu1111=) c.3313C>T (p.Leu1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721168T>A | CA515261344 | SHANK3 | c.2936T>A (p.Leu979Gln) n.3520T>A c.1988T>A (p.Leu663Gln) c.1478T>A (p.Leu493Gln) c.*1934T>A (n.*1934T>A) c.3332T>A (p.Leu1111Gln) c.3314T>A (p.Leu1105Gln) | |
| 22 | g.50721168T>C | CA515261345 | SHANK3 | c.2936T>C (p.Leu979Pro) n.3520T>C c.1988T>C (p.Leu663Pro) c.1478T>C (p.Leu493Pro) c.*1934T>C (n.*1934T>C) c.3332T>C (p.Leu1111Pro) c.3314T>C (p.Leu1105Pro) | gnomAD v4 |
| 22 | g.50721168T>G | CA515261346 | SHANK3 | c.2936T>G (p.Leu979Arg) n.3520T>G c.1988T>G (p.Leu663Arg) c.1478T>G (p.Leu493Arg) c.*1934T>G (n.*1934T>G) c.3332T>G (p.Leu1111Arg) c.3314T>G (p.Leu1105Arg) | |
| 22 | g.50721169G>A | CA515261347 | SHANK3 | c.2937G>A (p.Leu979=) n.3521G>A c.1989G>A (p.Leu663=) c.1479G>A (p.Leu493=) c.*1935G>A (n.*1935G>A) c.3333G>A (p.Leu1111=) c.3315G>A (p.Leu1105=) | gnomAD v4 |
| 22 | g.50721169G>C | CA515261348 | SHANK3 | c.2937G>C (p.Leu979=) n.3521G>C c.1989G>C (p.Leu663=) c.1479G>C (p.Leu493=) c.*1935G>C (n.*1935G>C) c.3333G>C (p.Leu1111=) c.3315G>C (p.Leu1105=) | |
| 22 | g.50721169G= | CA2411008068 | SHANK3 | c.2937G= (p.Leu979=) n.3521G= c.1989G= (p.Leu663=) c.1479G= (p.Leu493=) c.*1935G= (n.*1935G=) c.3333G= (p.Leu1111=) c.3315G= (p.Leu1105=) | |
| 22 | g.50721169G>T | CA515261349 | SHANK3 | c.2937G>T (p.Leu979=) n.3521G>T c.1989G>T (p.Leu663=) c.1479G>T (p.Leu493=) c.*1935G>T (n.*1935G>T) c.3333G>T (p.Leu1111=) c.3315G>T (p.Leu1105=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721170G>A | CA515261351 | SHANK3 | c.2938G>A (p.Ala980Thr) n.3522G>A c.1990G>A (p.Ala664Thr) c.1480G>A (p.Ala494Thr) c.*1936G>A (n.*1936G>A) c.3334G>A (p.Ala1112Thr) c.3316G>A (p.Ala1106Thr) | gnomAD v4 |
| 22 | g.50721170G>C | CA515261352 | SHANK3 | c.2938G>C (p.Ala980Pro) n.3522G>C c.1990G>C (p.Ala664Pro) c.1480G>C (p.Ala494Pro) c.*1936G>C (n.*1936G>C) c.3334G>C (p.Ala1112Pro) c.3316G>C (p.Ala1106Pro) | |
| 22 | g.50721170G>T | CA515261353 | SHANK3 | c.2938G>T (p.Ala980Ser) n.3522G>T c.1990G>T (p.Ala664Ser) c.1480G>T (p.Ala494Ser) c.*1936G>T (n.*1936G>T) c.3334G>T (p.Ala1112Ser) c.3316G>T (p.Ala1106Ser) | gnomAD v4 |
| 22 | g.50721171C>A | CA515261354 | SHANK3 | c.2939C>A (p.Ala980Asp) n.3523C>A c.1991C>A (p.Ala664Asp) c.1481C>A (p.Ala494Asp) c.*1937C>A (n.*1937C>A) c.3335C>A (p.Ala1112Asp) c.3317C>A (p.Ala1106Asp) | gnomAD v4 |
| 22 | g.50721171C= | CA2411008069 | SHANK3 | c.2939C= (p.Ala980=) n.3523C= c.1991C= (p.Ala664=) c.1481C= (p.Ala494=) c.*1937C= (n.*1937C=) c.3335C= (p.Ala1112=) c.3317C= (p.Ala1106=) | |
| 22 | g.50721171C>G | CA515261355 | SHANK3 | c.2939C>G (p.Ala980Gly) n.3523C>G c.1991C>G (p.Ala664Gly) c.1481C>G (p.Ala494Gly) c.*1937C>G (n.*1937C>G) c.3335C>G (p.Ala1112Gly) c.3317C>G (p.Ala1106Gly) | |
| 22 | g.50721171C>T | CA515261356 | SHANK3 | c.2939C>T (p.Ala980Val) n.3523C>T c.1991C>T (p.Ala664Val) c.1481C>T (p.Ala494Val) c.*1937C>T (n.*1937C>T) c.3335C>T (p.Ala1112Val) c.3317C>T (p.Ala1106Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721172T>A | CA515261359 | SHANK3 | c.2940T>A (p.Ala980=) n.3524T>A c.1992T>A (p.Ala664=) c.1482T>A (p.Ala494=) c.*1938T>A (n.*1938T>A) c.3336T>A (p.Ala1112=) c.3318T>A (p.Ala1106=) | |
| 22 | g.50721172T>C | CA515261357 | SHANK3 | c.2940T>C (p.Ala980=) n.3524T>C c.1992T>C (p.Ala664=) c.1482T>C (p.Ala494=) c.*1938T>C (n.*1938T>C) c.3336T>C (p.Ala1112=) c.3318T>C (p.Ala1106=) | |
| 22 | g.50721172T>G | CA515261358 | SHANK3 | c.2940T>G (p.Ala980=) n.3524T>G c.1992T>G (p.Ala664=) c.1482T>G (p.Ala494=) c.*1938T>G (n.*1938T>G) c.3336T>G (p.Ala1112=) c.3318T>G (p.Ala1106=) | |
| 22 | g.50721173G>A | CA515261360 | SHANK3 | c.2941G>A (p.Ala981Thr) n.3525G>A c.1993G>A (p.Ala665Thr) c.1483G>A (p.Ala495Thr) c.*1939G>A (n.*1939G>A) c.3337G>A (p.Ala1113Thr) c.3319G>A (p.Ala1107Thr) | gnomAD v4 |
| 22 | g.50721173G>C | CA515261361 | SHANK3 | c.2941G>C (p.Ala981Pro) n.3525G>C c.1993G>C (p.Ala665Pro) c.1483G>C (p.Ala495Pro) c.*1939G>C (n.*1939G>C) c.3337G>C (p.Ala1113Pro) c.3319G>C (p.Ala1107Pro) | |
| 22 | g.50721173G= | CA2411008070 | SHANK3 | c.2941G= (p.Ala981=) n.3525G= c.1993G= (p.Ala665=) c.1483G= (p.Ala495=) c.*1939G= (n.*1939G=) c.3337G= (p.Ala1113=) c.3319G= (p.Ala1107=) | |
| 22 | g.50721173G>T | CA515261362 | SHANK3 | c.2941G>T (p.Ala981Ser) n.3525G>T c.1993G>T (p.Ala665Ser) c.1483G>T (p.Ala495Ser) c.*1939G>T (n.*1939G>T) c.3337G>T (p.Ala1113Ser) c.3319G>T (p.Ala1107Ser) | dbSNP gnomAD v4 |
| 22 | g.50721174C>A | CA515261363 | SHANK3 | c.2942C>A (p.Ala981Asp) n.3526C>A c.1994C>A (p.Ala665Asp) c.1484C>A (p.Ala495Asp) c.*1940C>A (n.*1940C>A) c.3338C>A (p.Ala1113Asp) c.3320C>A (p.Ala1107Asp) | gnomAD v4 |
| 22 | g.50721174C= | CA2411008071 | SHANK3 | c.2942C= (p.Ala981=) n.3526C= c.1994C= (p.Ala665=) c.1484C= (p.Ala495=) c.*1940C= (n.*1940C=) c.3338C= (p.Ala1113=) c.3320C= (p.Ala1107=) | |
| 22 | g.50721174C>G | CA515261364 | SHANK3 | c.2942C>G (p.Ala981Gly) n.3526C>G c.1994C>G (p.Ala665Gly) c.1484C>G (p.Ala495Gly) c.*1940C>G (n.*1940C>G) c.3338C>G (p.Ala1113Gly) c.3320C>G (p.Ala1107Gly) | |
| 22 | g.50721174C>T | CA10326005 | SHANK3 | c.2942C>T (p.Ala981Val) n.3526C>T c.1994C>T (p.Ala665Val) c.1484C>T (p.Ala495Val) c.*1940C>T (n.*1940C>T) c.3338C>T (p.Ala1113Val) c.3320C>T (p.Ala1107Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721175C>A | CA515261365 | SHANK3 | c.2943C>A (p.Ala981=) n.3527C>A c.1995C>A (p.Ala665=) c.1485C>A (p.Ala495=) c.*1941C>A (n.*1941C>A) c.3339C>A (p.Ala1113=) c.3321C>A (p.Ala1107=) | |
| 22 | g.50721175C= | CA2411008072 | SHANK3 | c.2943C= (p.Ala981=) n.3527C= c.1995C= (p.Ala665=) c.1485C= (p.Ala495=) c.*1941C= (n.*1941C=) c.3339C= (p.Ala1113=) c.3321C= (p.Ala1107=) | |
| 22 | g.50721175C>G | CA10326006 | SHANK3 | c.2943C>G (p.Ala981=) n.3527C>G c.1995C>G (p.Ala665=) c.1485C>G (p.Ala495=) c.*1941C>G (n.*1941C>G) c.3339C>G (p.Ala1113=) c.3321C>G (p.Ala1107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721175C>T | CA515261366 | SHANK3 | c.2943C>T (p.Ala981=) n.3527C>T c.1995C>T (p.Ala665=) c.1485C>T (p.Ala495=) c.*1941C>T (n.*1941C>T) c.3339C>T (p.Ala1113=) c.3321C>T (p.Ala1107=) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721176C>A | CA325578719 | SHANK3 | c.2944C>A (p.Arg982=) n.3528C>A c.1996C>A (p.Arg666=) c.1486C>A (p.Arg496=) c.*1942C>A (n.*1942C>A) c.3340C>A (p.Arg1114=) c.3322C>A (p.Arg1108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721176C= | CA2411008073 | SHANK3 | c.2944C= (p.Arg982=) n.3528C= c.1996C= (p.Arg666=) c.1486C= (p.Arg496=) c.*1942C= (n.*1942C=) c.3340C= (p.Arg1114=) c.3322C= (p.Arg1108=) | |
| 22 | g.50721176C>G | CA515261367 | SHANK3 | c.2944C>G (p.Arg982Gly) n.3528C>G c.1996C>G (p.Arg666Gly) c.1486C>G (p.Arg496Gly) c.*1942C>G (n.*1942C>G) c.3340C>G (p.Arg1114Gly) c.3322C>G (p.Arg1108Gly) | |
| 22 | g.50721176C>T | CA515261368 | SHANK3 | c.2944C>T (p.Arg982Ter) n.3528C>T c.1996C>T (p.Arg666Ter) c.1486C>T (p.Arg496Ter) c.*1942C>T (n.*1942C>T) c.3340C>T (p.Arg1114Ter) c.3322C>T (p.Arg1108Ter) | ClinVar gnomAD v4 |
| 22 | g.50721177G>A | CA515261371 | SHANK3 | c.2945G>A (p.Arg982Gln) n.3529G>A c.1997G>A (p.Arg666Gln) c.1487G>A (p.Arg496Gln) c.*1943G>A (n.*1943G>A) c.3341G>A (p.Arg1114Gln) c.3323G>A (p.Arg1108Gln) | gnomAD v4 |
| 22 | g.50721177G>C | CA515261370 | SHANK3 | c.2945G>C (p.Arg982Pro) n.3529G>C c.1997G>C (p.Arg666Pro) c.1487G>C (p.Arg496Pro) c.*1943G>C (n.*1943G>C) c.3341G>C (p.Arg1114Pro) c.3323G>C (p.Arg1108Pro) | |
| 22 | g.50721177G= | CA2411008074 | SHANK3 | c.2945G= (p.Arg982=) n.3529G= c.1997G= (p.Arg666=) c.1487G= (p.Arg496=) c.*1943G= (n.*1943G=) c.3341G= (p.Arg1114=) c.3323G= (p.Arg1108=) | |
| 22 | g.50721177G>T | CA515261369 | SHANK3 | c.2945G>T (p.Arg982Leu) n.3529G>T c.1997G>T (p.Arg666Leu) c.1487G>T (p.Arg496Leu) c.*1943G>T (n.*1943G>T) c.3341G>T (p.Arg1114Leu) c.3323G>T (p.Arg1108Leu) | gnomAD v4 |
| 22 | g.50721178A= | CA2411008076 | SHANK3 | c.2946A= (p.Arg982=) n.3530A= c.1998A= (p.Arg666=) c.1488A= (p.Arg496=) c.*1944A= (n.*1944A=) c.3342A= (p.Arg1114=) c.3324A= (p.Arg1108=) | |
| 22 | g.50721178A>C | CA515261373 | SHANK3 | c.2946A>C (p.Arg982=) n.3530A>C c.1998A>C (p.Arg666=) c.1488A>C (p.Arg496=) c.*1944A>C (n.*1944A>C) c.3342A>C (p.Arg1114=) c.3324A>C (p.Arg1108=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721178A>G | CA515261372 | SHANK3 | c.2946A>G (p.Arg982=) n.3530A>G c.1998A>G (p.Arg666=) c.1488A>G (p.Arg496=) c.*1944A>G (n.*1944A>G) c.3342A>G (p.Arg1114=) c.3324A>G (p.Arg1108=) | |
| 22 | g.50721178A>T | CA515261374 | SHANK3 | c.2946A>T (p.Arg982=) n.3530A>T c.1998A>T (p.Arg666=) c.1488A>T (p.Arg496=) c.*1944A>T (n.*1944A>T) c.3342A>T (p.Arg1114=) c.3324A>T (p.Arg1108=) | |
| 22 | g.50721178_50721198dup | CA2411008075 | SHANK3 | c.2946_2966dup (p.Gln989_Ala990insGluArgAlaLeuAlaSerGln) n.3530_3550dup c.1998_2018dup (p.Gln673_Ala674insGluArgAlaLeuAlaSerGln) c.1488_1508dup (p.Gln503_Ala504insGluArgAlaLeuAlaSerGln) c.*1944_*1964dup (n.*1944_*1964dup) c.3342_3362dup (p.Gln1121_Ala1122insGluArgAlaLeuAlaSerGln) c.3324_3344dup (p.Gln1115_Ala1116insGluArgAlaLeuAlaSerGln) | dbSNP gnomAD v4 |
| 22 | g.50721179G>A | CA515261375 | SHANK3 | c.2947G>A (p.Glu983Lys) n.3531G>A c.1999G>A (p.Glu667Lys) c.1489G>A (p.Glu497Lys) c.*1945G>A (n.*1945G>A) c.3343G>A (p.Glu1115Lys) c.3325G>A (p.Glu1109Lys) | |
| 22 | g.50721179G>C | CA515261376 | SHANK3 | c.2947G>C (p.Glu983Gln) n.3531G>C c.1999G>C (p.Glu667Gln) c.1489G>C (p.Glu497Gln) c.*1945G>C (n.*1945G>C) c.3343G>C (p.Glu1115Gln) c.3325G>C (p.Glu1109Gln) | COSMIC COSMIC |
| 22 | g.50721179G>T | CA515261377 | SHANK3 | c.2947G>T (p.Glu983Ter) n.3531G>T c.1999G>T (p.Glu667Ter) c.1489G>T (p.Glu497Ter) c.*1945G>T (n.*1945G>T) c.3343G>T (p.Glu1115Ter) c.3325G>T (p.Glu1109Ter) | gnomAD v4 |
| 22 | g.50721180A>C | CA515261378 | SHANK3 | c.2948A>C (p.Glu983Ala) n.3532A>C c.2000A>C (p.Glu667Ala) c.1490A>C (p.Glu497Ala) c.*1946A>C (n.*1946A>C) c.3344A>C (p.Glu1115Ala) c.3326A>C (p.Glu1109Ala) | |
| 22 | g.50721180A>G | CA515261379 | SHANK3 | c.2948A>G (p.Glu983Gly) n.3532A>G c.2000A>G (p.Glu667Gly) c.1490A>G (p.Glu497Gly) c.*1946A>G (n.*1946A>G) c.3344A>G (p.Glu1115Gly) c.3326A>G (p.Glu1109Gly) | |
| 22 | g.50721180A>T | CA515261380 | SHANK3 | c.2948A>T (p.Glu983Val) n.3532A>T c.2000A>T (p.Glu667Val) c.1490A>T (p.Glu497Val) c.*1946A>T (n.*1946A>T) c.3344A>T (p.Glu1115Val) c.3326A>T (p.Glu1109Val) | |
| 22 | g.50721181G>A | CA10326007 | SHANK3 | c.2949G>A (p.Glu983=) n.3533G>A c.2001G>A (p.Glu667=) c.1491G>A (p.Glu497=) c.*1947G>A (n.*1947G>A) c.3345G>A (p.Glu1115=) c.3327G>A (p.Glu1109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721181G>C | CA515261381 | SHANK3 | c.2949G>C (p.Glu983Asp) n.3533G>C c.2001G>C (p.Glu667Asp) c.1491G>C (p.Glu497Asp) c.*1947G>C (n.*1947G>C) c.3345G>C (p.Glu1115Asp) c.3327G>C (p.Glu1109Asp) | |
| 22 | g.50721181G= | CA2411008077 | SHANK3 | c.2949G= (p.Glu983=) n.3533G= c.2001G= (p.Glu667=) c.1491G= (p.Glu497=) c.*1947G= (n.*1947G=) c.3345G= (p.Glu1115=) c.3327G= (p.Glu1109=) | |
| 22 | g.50721181G>T | CA515261382 | SHANK3 | c.2949G>T (p.Glu983Asp) n.3533G>T c.2001G>T (p.Glu667Asp) c.1491G>T (p.Glu497Asp) c.*1947G>T (n.*1947G>T) c.3345G>T (p.Glu1115Asp) c.3327G>T (p.Glu1109Asp) | |
| 22 | g.50721182C>A | CA515261383 | SHANK3 | c.2950C>A (p.Arg984=) n.3534C>A c.2002C>A (p.Arg668=) c.1492C>A (p.Arg498=) c.*1948C>A (n.*1948C>A) c.3346C>A (p.Arg1116=) c.3328C>A (p.Arg1110=) | gnomAD v4 |
| 22 | g.50721182C= | CA2411008078 | SHANK3 | c.2950C= (p.Arg984=) n.3534C= c.2002C= (p.Arg668=) c.1492C= (p.Arg498=) c.*1948C= (n.*1948C=) c.3346C= (p.Arg1116=) c.3328C= (p.Arg1110=) | |
| 22 | g.50721182C>G | CA515261384 | SHANK3 | c.2950C>G (p.Arg984Gly) n.3534C>G c.2002C>G (p.Arg668Gly) c.1492C>G (p.Arg498Gly) c.*1948C>G (n.*1948C>G) c.3346C>G (p.Arg1116Gly) c.3328C>G (p.Arg1110Gly) | gnomAD v4 |
| 22 | g.50721182C>T | CA129332 | SHANK3 | c.2950C>T (p.Arg984Ter) n.3534C>T c.2002C>T (p.Arg668Ter) c.1492C>T (p.Arg498Ter) c.*1948C>T (n.*1948C>T) c.3346C>T (p.Arg1116Ter) c.3328C>T (p.Arg1110Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721183G>A | CA515261386 | SHANK3 | c.2951G>A (p.Arg984Gln) n.3535G>A c.2003G>A (p.Arg668Gln) c.1493G>A (p.Arg498Gln) c.*1949G>A (n.*1949G>A) c.3347G>A (p.Arg1116Gln) c.3329G>A (p.Arg1110Gln) | gnomAD v4 |
| 22 | g.50721183G>C | CA515261385 | SHANK3 | c.2951G>C (p.Arg984Pro) n.3535G>C c.2003G>C (p.Arg668Pro) c.1493G>C (p.Arg498Pro) c.*1949G>C (n.*1949G>C) c.3347G>C (p.Arg1116Pro) c.3329G>C (p.Arg1110Pro) | |
| 22 | g.50721183G= | CA2411008079 | SHANK3 | c.2951G= (p.Arg984=) n.3535G= c.2003G= (p.Arg668=) c.1493G= (p.Arg498=) c.*1949G= (n.*1949G=) c.3347G= (p.Arg1116=) c.3329G= (p.Arg1110=) | |
| 22 | g.50721183G>T | CA10326008 | SHANK3 | c.2951G>T (p.Arg984Leu) n.3535G>T c.2003G>T (p.Arg668Leu) c.1493G>T (p.Arg498Leu) c.*1949G>T (n.*1949G>T) c.3347G>T (p.Arg1116Leu) c.3329G>T (p.Arg1110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721184A>C | CA515261387 | SHANK3 | c.2952A>C (p.Arg984=) n.3536A>C c.2004A>C (p.Arg668=) c.1494A>C (p.Arg498=) c.*1950A>C (n.*1950A>C) c.3348A>C (p.Arg1116=) c.3330A>C (p.Arg1110=) | gnomAD v4 |
| 22 | g.50721184A>G | CA515261388 | SHANK3 | c.2952A>G (p.Arg984=) n.3536A>G c.2004A>G (p.Arg668=) c.1494A>G (p.Arg498=) c.*1950A>G (n.*1950A>G) c.3348A>G (p.Arg1116=) c.3330A>G (p.Arg1110=) | |
| 22 | g.50721184A>T | CA515261389 | SHANK3 | c.2952A>T (p.Arg984=) n.3536A>T c.2004A>T (p.Arg668=) c.1494A>T (p.Arg498=) c.*1950A>T (n.*1950A>T) c.3348A>T (p.Arg1116=) c.3330A>T (p.Arg1110=) | |
| 22 | g.50721185G>A | CA515261390 | SHANK3 | c.2953G>A (p.Ala985Thr) n.3537G>A c.2005G>A (p.Ala669Thr) c.1495G>A (p.Ala499Thr) c.*1951G>A (n.*1951G>A) c.3349G>A (p.Ala1117Thr) c.3331G>A (p.Ala1111Thr) | gnomAD v4 |
| 22 | g.50721185G>C | CA515261391 | SHANK3 | c.2953G>C (p.Ala985Pro) n.3537G>C c.2005G>C (p.Ala669Pro) c.1495G>C (p.Ala499Pro) c.*1951G>C (n.*1951G>C) c.3349G>C (p.Ala1117Pro) c.3331G>C (p.Ala1111Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721185G= | CA2411008080 | SHANK3 | c.2953G= (p.Ala985=) n.3537G= c.2005G= (p.Ala669=) c.1495G= (p.Ala499=) c.*1951G= (n.*1951G=) c.3349G= (p.Ala1117=) c.3331G= (p.Ala1111=) | |
| 22 | g.50721185G>T | CA515261392 | SHANK3 | c.2953G>T (p.Ala985Ser) n.3537G>T c.2005G>T (p.Ala669Ser) c.1495G>T (p.Ala499Ser) c.*1951G>T (n.*1951G>T) c.3349G>T (p.Ala1117Ser) c.3331G>T (p.Ala1111Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721186C>A | CA515261393 | SHANK3 | c.2954C>A (p.Ala985Asp) n.3538C>A c.2006C>A (p.Ala669Asp) c.1496C>A (p.Ala499Asp) c.*1952C>A (n.*1952C>A) c.3350C>A (p.Ala1117Asp) c.3332C>A (p.Ala1111Asp) | gnomAD v4 |
| 22 | g.50721186C>G | CA515261394 | SHANK3 | c.2954C>G (p.Ala985Gly) n.3538C>G c.2006C>G (p.Ala669Gly) c.1496C>G (p.Ala499Gly) c.*1952C>G (n.*1952C>G) c.3350C>G (p.Ala1117Gly) c.3332C>G (p.Ala1111Gly) | |
| 22 | g.50721186C>T | CA515261395 | SHANK3 | c.2954C>T (p.Ala985Val) n.3538C>T c.2006C>T (p.Ala669Val) c.1496C>T (p.Ala499Val) c.*1952C>T (n.*1952C>T) c.3350C>T (p.Ala1117Val) c.3332C>T (p.Ala1111Val) | gnomAD v4 |
| 22 | g.50721187T>A | CA515261396 | SHANK3 | c.2955T>A (p.Ala985=) n.3539T>A c.2007T>A (p.Ala669=) c.1497T>A (p.Ala499=) c.*1953T>A (n.*1953T>A) c.3351T>A (p.Ala1117=) c.3333T>A (p.Ala1111=) | |
| 22 | g.50721187T>C | CA515261397 | SHANK3 | c.2955T>C (p.Ala985=) n.3539T>C c.2007T>C (p.Ala669=) c.1497T>C (p.Ala499=) c.*1953T>C (n.*1953T>C) c.3351T>C (p.Ala1117=) c.3333T>C (p.Ala1111=) | |
| 22 | g.50721187T>G | CA515261398 | SHANK3 | c.2955T>G (p.Ala985=) n.3539T>G c.2007T>G (p.Ala669=) c.1497T>G (p.Ala499=) c.*1953T>G (n.*1953T>G) c.3351T>G (p.Ala1117=) c.3333T>G (p.Ala1111=) | |
| 22 | g.50721188C>A | CA515261401 | SHANK3 | c.2956C>A (p.Leu986Met) n.3540C>A c.2008C>A (p.Leu670Met) c.1498C>A (p.Leu500Met) c.*1954C>A (n.*1954C>A) c.3352C>A (p.Leu1118Met) c.3334C>A (p.Leu1112Met) | |
| 22 | g.50721188C= | CA2411008081 | SHANK3 | c.2956C= (p.Leu986=) n.3540C= c.2008C= (p.Leu670=) c.1498C= (p.Leu500=) c.*1954C= (n.*1954C=) c.3352C= (p.Leu1118=) c.3334C= (p.Leu1112=) | |
| 22 | g.50721188C>G | CA515261400 | SHANK3 | c.2956C>G (p.Leu986Val) n.3540C>G c.2008C>G (p.Leu670Val) c.1498C>G (p.Leu500Val) c.*1954C>G (n.*1954C>G) c.3352C>G (p.Leu1118Val) c.3334C>G (p.Leu1112Val) | |
| 22 | g.50721188C>T | CA515261399 | SHANK3 | c.2956C>T (p.Leu986=) n.3540C>T c.2008C>T (p.Leu670=) c.1498C>T (p.Leu500=) c.*1954C>T (n.*1954C>T) c.3352C>T (p.Leu1118=) c.3334C>T (p.Leu1112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721189T>A | CA515261404 | SHANK3 | c.2957T>A (p.Leu986Gln) n.3541T>A c.2009T>A (p.Leu670Gln) c.1499T>A (p.Leu500Gln) c.*1955T>A (n.*1955T>A) c.3353T>A (p.Leu1118Gln) c.3335T>A (p.Leu1112Gln) | |
| 22 | g.50721189T>C | CA515261402 | SHANK3 | c.2957T>C (p.Leu986Pro) n.3541T>C c.2009T>C (p.Leu670Pro) c.1499T>C (p.Leu500Pro) c.*1955T>C (n.*1955T>C) c.3353T>C (p.Leu1118Pro) c.3335T>C (p.Leu1112Pro) | |
| 22 | g.50721189T>G | CA515261403 | SHANK3 | c.2957T>G (p.Leu986Arg) n.3541T>G c.2009T>G (p.Leu670Arg) c.1499T>G (p.Leu500Arg) c.*1955T>G (n.*1955T>G) c.3353T>G (p.Leu1118Arg) c.3335T>G (p.Leu1112Arg) | |
| 22 | g.50721190G>A | CA515261405 | SHANK3 | c.2958G>A (p.Leu986=) n.3542G>A c.2010G>A (p.Leu670=) c.1500G>A (p.Leu500=) c.*1956G>A (n.*1956G>A) c.3354G>A (p.Leu1118=) c.3336G>A (p.Leu1112=) | |
| 22 | g.50721190G>C | CA515261406 | SHANK3 | c.2958G>C (p.Leu986=) n.3542G>C c.2010G>C (p.Leu670=) c.1500G>C (p.Leu500=) c.*1956G>C (n.*1956G>C) c.3354G>C (p.Leu1118=) c.3336G>C (p.Leu1112=) | |
| 22 | g.50721190G>T | CA515261407 | SHANK3 | c.2958G>T (p.Leu986=) n.3542G>T c.2010G>T (p.Leu670=) c.1500G>T (p.Leu500=) c.*1956G>T (n.*1956G>T) c.3354G>T (p.Leu1118=) c.3336G>T (p.Leu1112=) | gnomAD v4 |
| 22 | g.50721191G>A | CA515261410 | SHANK3 | c.2959G>A (p.Ala987Thr) n.3543G>A c.2011G>A (p.Ala671Thr) c.1501G>A (p.Ala501Thr) c.*1957G>A (n.*1957G>A) c.3355G>A (p.Ala1119Thr) c.3337G>A (p.Ala1113Thr) | gnomAD v4 |
| 22 | g.50721191G>C | CA515261409 | SHANK3 | c.2959G>C (p.Ala987Pro) n.3543G>C c.2011G>C (p.Ala671Pro) c.1501G>C (p.Ala501Pro) c.*1957G>C (n.*1957G>C) c.3355G>C (p.Ala1119Pro) c.3337G>C (p.Ala1113Pro) | |
| 22 | g.50721191G>T | CA515261408 | SHANK3 | c.2959G>T (p.Ala987Ser) n.3543G>T c.2011G>T (p.Ala671Ser) c.1501G>T (p.Ala501Ser) c.*1957G>T (n.*1957G>T) c.3355G>T (p.Ala1119Ser) c.3337G>T (p.Ala1113Ser) | gnomAD v4 |
| 22 | g.50721192C>A | CA515261411 | SHANK3 | c.2960C>A (p.Ala987Asp) n.3544C>A c.2012C>A (p.Ala671Asp) c.1502C>A (p.Ala501Asp) c.*1958C>A (n.*1958C>A) c.3356C>A (p.Ala1119Asp) c.3338C>A (p.Ala1113Asp) | gnomAD v4 |
| 22 | g.50721192C= | CA2411008082 | SHANK3 | c.2960C= (p.Ala987=) n.3544C= c.2012C= (p.Ala671=) c.1502C= (p.Ala501=) c.*1958C= (n.*1958C=) c.3356C= (p.Ala1119=) c.3338C= (p.Ala1113=) | |
| 22 | g.50721192C>G | CA515261412 | SHANK3 | c.2960C>G (p.Ala987Gly) n.3544C>G c.2012C>G (p.Ala671Gly) c.1502C>G (p.Ala501Gly) c.*1958C>G (n.*1958C>G) c.3356C>G (p.Ala1119Gly) c.3338C>G (p.Ala1113Gly) | |
| 22 | g.50721192C>T | CA10326009 | SHANK3 | c.2960C>T (p.Ala987Val) n.3544C>T c.2012C>T (p.Ala671Val) c.1502C>T (p.Ala501Val) c.*1958C>T (n.*1958C>T) c.3356C>T (p.Ala1119Val) c.3338C>T (p.Ala1113Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721198_50721209dup | CA2657580564 | SHANK3 | c.2966_2977dup (p.Ser992_Arg993insGlnAlaProSer) n.3550_3561dup c.2018_2029dup (p.Ser676_Arg677insGlnAlaProSer) c.1508_1519dup (p.Ser506_Arg507insGlnAlaProSer) c.*1964_*1975dup (n.*1964_*1975dup) c.3362_3373dup (p.Ser1124_Arg1125insGlnAlaProSer) c.3344_3355dup (p.Ser1118_Arg1119insGlnAlaProSer) | gnomAD v4 |
| 22 | g.50721193C>A | CA515261413 | SHANK3 | c.2961C>A (p.Ala987=) n.3545C>A c.2013C>A (p.Ala671=) c.1503C>A (p.Ala501=) c.*1959C>A (n.*1959C>A) c.3357C>A (p.Ala1119=) c.3339C>A (p.Ala1113=) | gnomAD v4 |
| 22 | g.50721193C= | CA2411008083 | SHANK3 | c.2961C= (p.Ala987=) n.3545C= c.2013C= (p.Ala671=) c.1503C= (p.Ala501=) c.*1959C= (n.*1959C=) c.3357C= (p.Ala1119=) c.3339C= (p.Ala1113=) | |
| 22 | g.50721193C>G | CA515261414 | SHANK3 | c.2961C>G (p.Ala987=) n.3545C>G c.2013C>G (p.Ala671=) c.1503C>G (p.Ala501=) c.*1959C>G (n.*1959C>G) c.3357C>G (p.Ala1119=) c.3339C>G (p.Ala1113=) | dbSNP |
| 22 | g.50721193C>T | CA515261415 | SHANK3 | c.2961C>T (p.Ala987=) n.3545C>T c.2013C>T (p.Ala671=) c.1503C>T (p.Ala501=) c.*1959C>T (n.*1959C>T) c.3357C>T (p.Ala1119=) c.3339C>T (p.Ala1113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721194T>A | CA515261416 | SHANK3 | c.2962T>A (p.Ser988Thr) n.3546T>A c.2014T>A (p.Ser672Thr) c.1504T>A (p.Ser502Thr) c.*1960T>A (n.*1960T>A) c.3358T>A (p.Ser1120Thr) c.3340T>A (p.Ser1114Thr) | gnomAD v4 |
| 22 | g.50721194T>C | CA515261418 | SHANK3 | c.2962T>C (p.Ser988Pro) n.3546T>C c.2014T>C (p.Ser672Pro) c.1504T>C (p.Ser502Pro) c.*1960T>C (n.*1960T>C) c.3358T>C (p.Ser1120Pro) c.3340T>C (p.Ser1114Pro) | |
| 22 | g.50721194T>G | CA515261417 | SHANK3 | c.2962T>G (p.Ser988Ala) n.3546T>G c.2014T>G (p.Ser672Ala) c.1504T>G (p.Ser502Ala) c.*1960T>G (n.*1960T>G) c.3358T>G (p.Ser1120Ala) c.3340T>G (p.Ser1114Ala) | |
| 22 | g.50721195C>A | CA515261419 | SHANK3 | c.2963C>A (p.Ser988Tyr) n.3547C>A c.2015C>A (p.Ser672Tyr) c.1505C>A (p.Ser502Tyr) c.*1961C>A (n.*1961C>A) c.3359C>A (p.Ser1120Tyr) c.3341C>A (p.Ser1114Tyr) | gnomAD v4 |
| 22 | g.50721195C= | CA2411008084 | SHANK3 | c.2963C= (p.Ser988=) n.3547C= c.2015C= (p.Ser672=) c.1505C= (p.Ser502=) c.*1961C= (n.*1961C=) c.3359C= (p.Ser1120=) c.3341C= (p.Ser1114=) | |
| 22 | g.50721195C>G | CA515261420 | SHANK3 | c.2963C>G (p.Ser988Cys) n.3547C>G c.2015C>G (p.Ser672Cys) c.1505C>G (p.Ser502Cys) c.*1961C>G (n.*1961C>G) c.3359C>G (p.Ser1120Cys) c.3341C>G (p.Ser1114Cys) | gnomAD v4 |
| 22 | g.50721195C>T | CA325578736 | SHANK3 | c.2963C>T (p.Ser988Phe) n.3547C>T c.2015C>T (p.Ser672Phe) c.1505C>T (p.Ser502Phe) c.*1961C>T (n.*1961C>T) c.3359C>T (p.Ser1120Phe) c.3341C>T (p.Ser1114Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721196C>A | CA515261421 | SHANK3 | c.2964C>A (p.Ser988=) n.3548C>A c.2016C>A (p.Ser672=) c.1506C>A (p.Ser502=) c.*1962C>A (n.*1962C>A) c.3360C>A (p.Ser1120=) c.3342C>A (p.Ser1114=) | gnomAD v4 |
| 22 | g.50721196C= | CA2411008085 | SHANK3 | c.2964C= (p.Ser988=) n.3548C= c.2016C= (p.Ser672=) c.1506C= (p.Ser502=) c.*1962C= (n.*1962C=) c.3360C= (p.Ser1120=) c.3342C= (p.Ser1114=) | |
| 22 | g.50721196C>G | CA515261422 | SHANK3 | c.2964C>G (p.Ser988=) n.3548C>G c.2016C>G (p.Ser672=) c.1506C>G (p.Ser502=) c.*1962C>G (n.*1962C>G) c.3360C>G (p.Ser1120=) c.3342C>G (p.Ser1114=) | |
| 22 | g.50721196C>T | CA180434 | SHANK3 | c.2964C>T (p.Ser988=) n.3548C>T c.2016C>T (p.Ser672=) c.1506C>T (p.Ser502=) c.*1962C>T (n.*1962C>T) c.3360C>T (p.Ser1120=) c.3342C>T (p.Ser1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |