| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721585_50721608dup | CA2657581053 | SHANK3 | c.3353_3376dup (p.Pro1125_Pro1126insLeuProSerProArgAlaGlnPro) n.3937_3960dup c.2405_2428dup (p.Pro809_Pro810insLeuProSerProArgAlaGlnPro) c.1895_1918dup (p.Pro639_Pro640insLeuProSerProArgAlaGlnPro) c.*2351_*2374dup (n.*2351_*2374dup) c.3749_3772dup (p.Pro1257_Pro1258insLeuProSerProArgAlaGlnPro) c.3731_3754dup (p.Pro1251_Pro1252insLeuProSerProArgAlaGlnPro) | gnomAD v4 |
| 22 | g.50721584_50721597delinsCTGCCCAGCCCCCG | CA2411008338 | SHANK3 | c.3352_3365delinsCTGCCCAGCCCCCG (p.Leu1118=) n.3936_3949delinsCTGCCCAGCCCCCG c.2404_2417delinsCTGCCCAGCCCCCG (p.Leu802=) c.1894_1907delinsCTGCCCAGCCCCCG (p.Leu632=) c.*2350_*2363delinsCTGCCCAGCCCCCG (n.*2350_*2363delinsCTGCCCAGCCCCCG) c.3748_3761delinsCTGCCCAGCCCCCG (p.Leu1250=) c.3730_3743delinsCTGCCCAGCCCCCG (p.Leu1244=) | |
| 22 | g.50721585_50721597del | CA658799571 | SHANK3 | c.3353_3365del (p.Leu1118ArgfsTer29) n.3937_3949del c.2405_2417del (p.Leu802ArgfsTer29) c.1895_1907del (p.Leu632ArgfsTer29) c.*2351_*2363del (n.*2351_*2363del) c.3749_3761del (p.Leu1250ArgfsTer29) c.3731_3743del (p.Leu1244ArgfsTer29) | ClinVar dbSNP |
| 22 | g.50721585_50721598delinsTGCCCAGCCCCCGG | CA2411008339 | SHANK3 | c.3353_3366delinsTGCCCAGCCCCCGG (p.Leu1118=) n.3937_3950delinsTGCCCAGCCCCCGG c.2405_2418delinsTGCCCAGCCCCCGG (p.Leu802=) c.1895_1908delinsTGCCCAGCCCCCGG (p.Leu632=) c.*2351_*2364delinsTGCCCAGCCCCCGG (n.*2351_*2364delinsTGCCCAGCCCCCGG) c.3749_3762delinsTGCCCAGCCCCCGG (p.Leu1250=) c.3731_3744delinsTGCCCAGCCCCCGG (p.Leu1244=) | |
| 22 | g.50721597_50721609del | CA10603393 | SHANK3 | c.3365_3377del (p.Arg1122LeufsTer25) n.3949_3961del c.2417_2429del (p.Arg806LeufsTer25) c.1907_1919del (p.Arg636LeufsTer25) c.*2363_*2375del (n.*2363_*2375del) c.3761_3773del (p.Arg1254LeufsTer25) c.3743_3755del (p.Arg1248LeufsTer25) | ClinVar dbSNP |
| 22 | g.50721597G>A | CA515262967 | SHANK3 | c.3365G>A (p.Arg1122Gln) n.3949G>A c.2417G>A (p.Arg806Gln) c.1907G>A (p.Arg636Gln) c.*2363G>A (n.*2363G>A) c.3761G>A (p.Arg1254Gln) c.3743G>A (p.Arg1248Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721597G>C | CA515262966 | SHANK3 | c.3365G>C (p.Arg1122Pro) n.3949G>C c.2417G>C (p.Arg806Pro) c.1907G>C (p.Arg636Pro) c.*2363G>C (n.*2363G>C) c.3761G>C (p.Arg1254Pro) c.3743G>C (p.Arg1248Pro) | gnomAD v4 |
| 22 | g.50721597G= | CA2411008350 | SHANK3 | c.3365G= (p.Arg1122=) n.3949G= c.2417G= (p.Arg806=) c.1907G= (p.Arg636=) c.*2363G= (n.*2363G=) c.3761G= (p.Arg1254=) c.3743G= (p.Arg1248=) | |
| 22 | g.50721597G>T | CA325579446 | SHANK3 | c.3365G>T (p.Arg1122Leu) n.3949G>T c.2417G>T (p.Arg806Leu) c.1907G>T (p.Arg636Leu) c.*2363G>T (n.*2363G>T) c.3761G>T (p.Arg1254Leu) c.3743G>T (p.Arg1248Leu) | dbSNP gnomAD v4 |
| 22 | g.50721599dup | CA915951510 | SHANK3 | c.3367dup (p.Ala1123GlyfsTer?) n.3951dup c.2419dup (p.Ala807GlyfsTer?) c.1909dup (p.Ala637GlyfsTer?) c.*2365dup (n.*2365dup) c.3763dup (p.Ala1255GlyfsTer?) c.3745dup (p.Ala1249GlyfsTer?) | ClinVar dbSNP |
| 22 | g.50721598G>A | CA515262968 | SHANK3 | c.3366G>A (p.Arg1122=) n.3950G>A c.2418G>A (p.Arg806=) c.1908G>A (p.Arg636=) c.*2364G>A (n.*2364G>A) c.3762G>A (p.Arg1254=) c.3744G>A (p.Arg1248=) | |
| 22 | g.50721598G>C | CA515262969 | SHANK3 | c.3366G>C (p.Arg1122=) n.3950G>C c.2418G>C (p.Arg806=) c.1908G>C (p.Arg636=) c.*2364G>C (n.*2364G>C) c.3762G>C (p.Arg1254=) c.3744G>C (p.Arg1248=) | |
| 22 | g.50721598G>T | CA515262970 | SHANK3 | c.3366G>T (p.Arg1122=) n.3950G>T c.2418G>T (p.Arg806=) c.1908G>T (p.Arg636=) c.*2364G>T (n.*2364G>T) c.3762G>T (p.Arg1254=) c.3744G>T (p.Arg1248=) | |
| 22 | g.50721599G>A | CA515262971 | SHANK3 | c.3367G>A (p.Ala1123Thr) n.3951G>A c.2419G>A (p.Ala807Thr) c.1909G>A (p.Ala637Thr) c.*2365G>A (n.*2365G>A) c.3763G>A (p.Ala1255Thr) c.3745G>A (p.Ala1249Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721599G>C | CA515262972 | SHANK3 | c.3367G>C (p.Ala1123Pro) n.3951G>C c.2419G>C (p.Ala807Pro) c.1909G>C (p.Ala637Pro) c.*2365G>C (n.*2365G>C) c.3763G>C (p.Ala1255Pro) c.3745G>C (p.Ala1249Pro) | |
| 22 | g.50721599G= | CA2411008351 | SHANK3 | c.3367G= (p.Ala1123=) n.3951G= c.2419G= (p.Ala807=) c.1909G= (p.Ala637=) c.*2365G= (n.*2365G=) c.3763G= (p.Ala1255=) c.3745G= (p.Ala1249=) | |
| 22 | g.50721599G>T | CA515262973 | SHANK3 | c.3367G>T (p.Ala1123Ser) n.3951G>T c.2419G>T (p.Ala807Ser) c.1909G>T (p.Ala637Ser) c.*2365G>T (n.*2365G>T) c.3763G>T (p.Ala1255Ser) c.3745G>T (p.Ala1249Ser) | ClinVar dbSNP |
| 22 | g.50721600C>A | CA515262974 | SHANK3 | c.3368C>A (p.Ala1123Asp) n.3952C>A c.2420C>A (p.Ala807Asp) c.1910C>A (p.Ala637Asp) c.*2366C>A (n.*2366C>A) c.3764C>A (p.Ala1255Asp) c.3746C>A (p.Ala1249Asp) | |
| 22 | g.50721600C= | CA2411008352 | SHANK3 | c.3368C= (p.Ala1123=) n.3952C= c.2420C= (p.Ala807=) c.1910C= (p.Ala637=) c.*2366C= (n.*2366C=) c.3764C= (p.Ala1255=) c.3746C= (p.Ala1249=) | |
| 22 | g.50721600C>G | CA515262975 | SHANK3 | c.3368C>G (p.Ala1123Gly) n.3952C>G c.2420C>G (p.Ala807Gly) c.1910C>G (p.Ala637Gly) c.*2366C>G (n.*2366C>G) c.3764C>G (p.Ala1255Gly) c.3746C>G (p.Ala1249Gly) | |
| 22 | g.50721600C>T | CA515262976 | SHANK3 | c.3368C>T (p.Ala1123Val) n.3952C>T c.2420C>T (p.Ala807Val) c.1910C>T (p.Ala637Val) c.*2366C>T (n.*2366C>T) c.3764C>T (p.Ala1255Val) c.3746C>T (p.Ala1249Val) | dbSNP |
| 22 | g.50721601C>A | CA515262977 | SHANK3 | c.3369C>A (p.Ala1123=) n.3953C>A c.2421C>A (p.Ala807=) c.1911C>A (p.Ala637=) c.*2367C>A (n.*2367C>A) c.3765C>A (p.Ala1255=) c.3747C>A (p.Ala1249=) | |
| 22 | g.50721601C>G | CA515262978 | SHANK3 | c.3369C>G (p.Ala1123=) n.3953C>G c.2421C>G (p.Ala807=) c.1911C>G (p.Ala637=) c.*2367C>G (n.*2367C>G) c.3765C>G (p.Ala1255=) c.3747C>G (p.Ala1249=) | |
| 22 | g.50721601C>T | CA515262979 | SHANK3 | c.3369C>T (p.Ala1123=) n.3953C>T c.2421C>T (p.Ala807=) c.1911C>T (p.Ala637=) c.*2367C>T (n.*2367C>T) c.3765C>T (p.Ala1255=) c.3747C>T (p.Ala1249=) | |
| 22 | g.50721602C>A | CA515262982 | SHANK3 | c.3370C>A (p.Gln1124Lys) n.3954C>A c.2422C>A (p.Gln808Lys) c.1912C>A (p.Gln638Lys) c.*2368C>A (n.*2368C>A) c.3766C>A (p.Gln1256Lys) c.3748C>A (p.Gln1250Lys) | |
| 22 | g.50721602C>G | CA515262981 | SHANK3 | c.3370C>G (p.Gln1124Glu) n.3954C>G c.2422C>G (p.Gln808Glu) c.1912C>G (p.Gln638Glu) c.*2368C>G (n.*2368C>G) c.3766C>G (p.Gln1256Glu) c.3748C>G (p.Gln1250Glu) | |
| 22 | g.50721602C>T | CA515262980 | SHANK3 | c.3370C>T (p.Gln1124Ter) n.3954C>T c.2422C>T (p.Gln808Ter) c.1912C>T (p.Gln638Ter) c.*2368C>T (n.*2368C>T) c.3766C>T (p.Gln1256Ter) c.3748C>T (p.Gln1250Ter) | |
| 22 | g.50721603A>C | CA515262983 | SHANK3 | c.3371A>C (p.Gln1124Pro) n.3955A>C c.2423A>C (p.Gln808Pro) c.1913A>C (p.Gln638Pro) c.*2369A>C (n.*2369A>C) c.3767A>C (p.Gln1256Pro) c.3749A>C (p.Gln1250Pro) | |
| 22 | g.50721603A>G | CA515262985 | SHANK3 | c.3371A>G (p.Gln1124Arg) n.3955A>G c.2423A>G (p.Gln808Arg) c.1913A>G (p.Gln638Arg) c.*2369A>G (n.*2369A>G) c.3767A>G (p.Gln1256Arg) c.3749A>G (p.Gln1250Arg) | |
| 22 | g.50721603A>T | CA515262984 | SHANK3 | c.3371A>T (p.Gln1124Leu) n.3955A>T c.2423A>T (p.Gln808Leu) c.1913A>T (p.Gln638Leu) c.*2369A>T (n.*2369A>T) c.3767A>T (p.Gln1256Leu) c.3749A>T (p.Gln1250Leu) | |
| 22 | g.50721604G>A | CA515262986 | SHANK3 | c.3372G>A (p.Gln1124=) n.3956G>A c.2424G>A (p.Gln808=) c.1914G>A (p.Gln638=) c.*2370G>A (n.*2370G>A) c.3768G>A (p.Gln1256=) c.3750G>A (p.Gln1250=) | |
| 22 | g.50721604G>C | CA515262988 | SHANK3 | c.3372G>C (p.Gln1124His) n.3956G>C c.2424G>C (p.Gln808His) c.1914G>C (p.Gln638His) c.*2370G>C (n.*2370G>C) c.3768G>C (p.Gln1256His) c.3750G>C (p.Gln1250His) | |
| 22 | g.50721604G>T | CA515262987 | SHANK3 | c.3372G>T (p.Gln1124His) n.3956G>T c.2424G>T (p.Gln808His) c.1914G>T (p.Gln638His) c.*2370G>T (n.*2370G>T) c.3768G>T (p.Gln1256His) c.3750G>T (p.Gln1250His) | |
| 22 | g.50721604_50721608dup | CA2573158316 | SHANK3 | c.3372_3376dup (p.Pro1126ArgfsTer27) n.3956_3960dup c.2424_2428dup (p.Pro810ArgfsTer27) c.1914_1918dup (p.Pro640ArgfsTer27) c.*2370_*2374dup (n.*2370_*2374dup) c.3768_3772dup (p.Pro1258ArgfsTer27) c.3750_3754dup (p.Pro1252ArgfsTer27) | ClinVar dbSNP |
| 22 | g.50721605C>A | CA515262989 | SHANK3 | c.3373C>A (p.Pro1125Thr) n.3957C>A c.2425C>A (p.Pro809Thr) c.1915C>A (p.Pro639Thr) c.*2371C>A (n.*2371C>A) c.3769C>A (p.Pro1257Thr) c.3751C>A (p.Pro1251Thr) | |
| 22 | g.50721605C= | CA2411008353 | SHANK3 | c.3373C= (p.Pro1125=) n.3957C= c.2425C= (p.Pro809=) c.1915C= (p.Pro639=) c.*2371C= (n.*2371C=) c.3769C= (p.Pro1257=) c.3751C= (p.Pro1251=) | |
| 22 | g.50721605C>G | CA10326128 | SHANK3 | c.3373C>G (p.Pro1125Ala) n.3957C>G c.2425C>G (p.Pro809Ala) c.1915C>G (p.Pro639Ala) c.*2371C>G (n.*2371C>G) c.3769C>G (p.Pro1257Ala) c.3751C>G (p.Pro1251Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721605C>T | CA515262990 | SHANK3 | c.3373C>T (p.Pro1125Ser) n.3957C>T c.2425C>T (p.Pro809Ser) c.1915C>T (p.Pro639Ser) c.*2371C>T (n.*2371C>T) c.3769C>T (p.Pro1257Ser) c.3751C>T (p.Pro1251Ser) | |
| 22 | g.50721606C>A | CA515262991 | SHANK3 | c.3374C>A (p.Pro1125His) n.3958C>A c.2426C>A (p.Pro809His) c.1916C>A (p.Pro639His) c.*2372C>A (n.*2372C>A) c.3770C>A (p.Pro1257His) c.3752C>A (p.Pro1251His) | |
| 22 | g.50721606C= | CA2411008354 | SHANK3 | c.3374C= (p.Pro1125=) n.3958C= c.2426C= (p.Pro809=) c.1916C= (p.Pro639=) c.*2372C= (n.*2372C=) c.3770C= (p.Pro1257=) c.3752C= (p.Pro1251=) | |
| 22 | g.50721606C>G | CA515262992 | SHANK3 | c.3374C>G (p.Pro1125Arg) n.3958C>G c.2426C>G (p.Pro809Arg) c.1916C>G (p.Pro639Arg) c.*2372C>G (n.*2372C>G) c.3770C>G (p.Pro1257Arg) c.3752C>G (p.Pro1251Arg) | |
| 22 | g.50721606C>T | CA515262993 | SHANK3 | c.3374C>T (p.Pro1125Leu) n.3958C>T c.2426C>T (p.Pro809Leu) c.1916C>T (p.Pro639Leu) c.*2372C>T (n.*2372C>T) c.3770C>T (p.Pro1257Leu) c.3752C>T (p.Pro1251Leu) | dbSNP gnomAD v4 |
| 22 | g.50721607C>A | CA515262994 | SHANK3 | c.3375C>A (p.Pro1125=) n.3959C>A c.2427C>A (p.Pro809=) c.1917C>A (p.Pro639=) c.*2373C>A (n.*2373C>A) c.3771C>A (p.Pro1257=) c.3753C>A (p.Pro1251=) | gnomAD v4 |
| 22 | g.50721607C= | CA2411008355 | SHANK3 | c.3375C= (p.Pro1125=) n.3959C= c.2427C= (p.Pro809=) c.1917C= (p.Pro639=) c.*2373C= (n.*2373C=) c.3771C= (p.Pro1257=) c.3753C= (p.Pro1251=) | |
| 22 | g.50721607C>G | CA515262995 | SHANK3 | c.3375C>G (p.Pro1125=) n.3959C>G c.2427C>G (p.Pro809=) c.1917C>G (p.Pro639=) c.*2373C>G (n.*2373C>G) c.3771C>G (p.Pro1257=) c.3753C>G (p.Pro1251=) | gnomAD v4 |
| 22 | g.50721607C>T | CA10326129 | SHANK3 | c.3375C>T (p.Pro1125=) n.3959C>T c.2427C>T (p.Pro809=) c.1917C>T (p.Pro639=) c.*2373C>T (n.*2373C>T) c.3771C>T (p.Pro1257=) c.3753C>T (p.Pro1251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721608C>A | CA515262996 | SHANK3 | c.3376C>A (p.Pro1126Thr) n.3960C>A c.2428C>A (p.Pro810Thr) c.1918C>A (p.Pro640Thr) c.*2374C>A (n.*2374C>A) c.3772C>A (p.Pro1258Thr) c.3754C>A (p.Pro1252Thr) | |
| 22 | g.50721608C= | CA2411008356 | SHANK3 | c.3376C= (p.Pro1126=) n.3960C= c.2428C= (p.Pro810=) c.1918C= (p.Pro640=) c.*2374C= (n.*2374C=) c.3772C= (p.Pro1258=) c.3754C= (p.Pro1252=) | |
| 22 | g.50721608C>G | CA515262997 | SHANK3 | c.3376C>G (p.Pro1126Ala) n.3960C>G c.2428C>G (p.Pro810Ala) c.1918C>G (p.Pro640Ala) c.*2374C>G (n.*2374C>G) c.3772C>G (p.Pro1258Ala) c.3754C>G (p.Pro1252Ala) | gnomAD v4 |
| 22 | g.50721608C>T | CA515262998 | SHANK3 | c.3376C>T (p.Pro1126Ser) n.3960C>T c.2428C>T (p.Pro810Ser) c.1918C>T (p.Pro640Ser) c.*2374C>T (n.*2374C>T) c.3772C>T (p.Pro1258Ser) c.3754C>T (p.Pro1252Ser) | dbSNP gnomAD v4 |
| 22 | g.50721609C>A | CA515262999 | SHANK3 | c.3377C>A (p.Pro1126His) n.3961C>A c.2429C>A (p.Pro810His) c.1919C>A (p.Pro640His) c.*2375C>A (n.*2375C>A) c.3773C>A (p.Pro1258His) c.3755C>A (p.Pro1252His) | |
| 22 | g.50721609C= | CA2411008357 | SHANK3 | c.3377C= (p.Pro1126=) n.3961C= c.2429C= (p.Pro810=) c.1919C= (p.Pro640=) c.*2375C= (n.*2375C=) c.3773C= (p.Pro1258=) c.3755C= (p.Pro1252=) | |
| 22 | g.50721609C>G | CA515263000 | SHANK3 | c.3377C>G (p.Pro1126Arg) n.3961C>G c.2429C>G (p.Pro810Arg) c.1919C>G (p.Pro640Arg) c.*2375C>G (n.*2375C>G) c.3773C>G (p.Pro1258Arg) c.3755C>G (p.Pro1252Arg) | dbSNP gnomAD v4 |
| 22 | g.50721609C>T | CA10326130 | SHANK3 | c.3377C>T (p.Pro1126Leu) n.3961C>T c.2429C>T (p.Pro810Leu) c.1919C>T (p.Pro640Leu) c.*2375C>T (n.*2375C>T) c.3773C>T (p.Pro1258Leu) c.3755C>T (p.Pro1252Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721610T>A | CA515263001 | SHANK3 | c.3378T>A (p.Pro1126=) n.3962T>A c.2430T>A (p.Pro810=) c.1920T>A (p.Pro640=) c.*2376T>A (n.*2376T>A) c.3774T>A (p.Pro1258=) c.3756T>A (p.Pro1252=) | |
| 22 | g.50721610T>C | CA515263002 | SHANK3 | c.3378T>C (p.Pro1126=) n.3962T>C c.2430T>C (p.Pro810=) c.1920T>C (p.Pro640=) c.*2376T>C (n.*2376T>C) c.3774T>C (p.Pro1258=) c.3756T>C (p.Pro1252=) | dbSNP gnomAD v2 |
| 22 | g.50721610T>G | CA515263003 | SHANK3 | c.3378T>G (p.Pro1126=) n.3962T>G c.2430T>G (p.Pro810=) c.1920T>G (p.Pro640=) c.*2376T>G (n.*2376T>G) c.3774T>G (p.Pro1258=) c.3756T>G (p.Pro1252=) | |
| 22 | g.50721610T= | CA2411008358 | SHANK3 | c.3378T= (p.Pro1126=) n.3962T= c.2430T= (p.Pro810=) c.1920T= (p.Pro640=) c.*2376T= (n.*2376T=) c.3774T= (p.Pro1258=) c.3756T= (p.Pro1252=) | |
| 22 | g.50721611G>A | CA515263004 | SHANK3 | c.3379G>A (p.Gly1127Ser) n.3963G>A c.2431G>A (p.Gly811Ser) c.1921G>A (p.Gly641Ser) c.*2377G>A (n.*2377G>A) c.3775G>A (p.Gly1259Ser) c.3757G>A (p.Gly1253Ser) | |
| 22 | g.50721611G>C | CA515263005 | SHANK3 | c.3379G>C (p.Gly1127Arg) n.3963G>C c.2431G>C (p.Gly811Arg) c.1921G>C (p.Gly641Arg) c.*2377G>C (n.*2377G>C) c.3775G>C (p.Gly1259Arg) c.3757G>C (p.Gly1253Arg) | |
| 22 | g.50721611G>T | CA515263006 | SHANK3 | c.3379G>T (p.Gly1127Cys) n.3963G>T c.2431G>T (p.Gly811Cys) c.1921G>T (p.Gly641Cys) c.*2377G>T (n.*2377G>T) c.3775G>T (p.Gly1259Cys) c.3757G>T (p.Gly1253Cys) | gnomAD v4 |
| 22 | g.50721612G>A | CA10326131 | SHANK3 | c.3380G>A (p.Gly1127Asp) n.3964G>A c.2432G>A (p.Gly811Asp) c.1922G>A (p.Gly641Asp) c.*2378G>A (n.*2378G>A) c.3776G>A (p.Gly1259Asp) c.3758G>A (p.Gly1253Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721612G>C | CA515263007 | SHANK3 | c.3380G>C (p.Gly1127Ala) n.3964G>C c.2432G>C (p.Gly811Ala) c.1922G>C (p.Gly641Ala) c.*2378G>C (n.*2378G>C) c.3776G>C (p.Gly1259Ala) c.3758G>C (p.Gly1253Ala) | ClinVar gnomAD v4 |
| 22 | g.50721612G= | CA2411008359 | SHANK3 | c.3380G= (p.Gly1127=) n.3964G= c.2432G= (p.Gly811=) c.1922G= (p.Gly641=) c.*2378G= (n.*2378G=) c.3776G= (p.Gly1259=) c.3758G= (p.Gly1253=) | |
| 22 | g.50721612G>T | CA10326132 | SHANK3 | c.3380G>T (p.Gly1127Val) n.3964G>T c.2432G>T (p.Gly811Val) c.1922G>T (p.Gly641Val) c.*2378G>T (n.*2378G>T) c.3776G>T (p.Gly1259Val) c.3758G>T (p.Gly1253Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721613T>A | CA515263010 | SHANK3 | c.3381T>A (p.Gly1127=) n.3965T>A c.2433T>A (p.Gly811=) c.1923T>A (p.Gly641=) c.*2379T>A (n.*2379T>A) c.3777T>A (p.Gly1259=) c.3759T>A (p.Gly1253=) | |
| 22 | g.50721613T>C | CA515263009 | SHANK3 | c.3381T>C (p.Gly1127=) n.3965T>C c.2433T>C (p.Gly811=) c.1923T>C (p.Gly641=) c.*2379T>C (n.*2379T>C) c.3777T>C (p.Gly1259=) c.3759T>C (p.Gly1253=) | |
| 22 | g.50721613T>G | CA515263008 | SHANK3 | c.3381T>G (p.Gly1127=) n.3965T>G c.2433T>G (p.Gly811=) c.1923T>G (p.Gly641=) c.*2379T>G (n.*2379T>G) c.3777T>G (p.Gly1259=) c.3759T>G (p.Gly1253=) | dbSNP |
| 22 | g.50721614G>A | CA10326133 | SHANK3 | c.3382G>A (p.Gly1128Ser) n.3966G>A c.2434G>A (p.Gly812Ser) c.1924G>A (p.Gly642Ser) c.*2380G>A (n.*2380G>A) c.3778G>A (p.Gly1260Ser) c.3760G>A (p.Gly1254Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721614G>C | CA515263011 | SHANK3 | c.3382G>C (p.Gly1128Arg) n.3966G>C c.2434G>C (p.Gly812Arg) c.1924G>C (p.Gly642Arg) c.*2380G>C (n.*2380G>C) c.3778G>C (p.Gly1260Arg) c.3760G>C (p.Gly1254Arg) | |
| 22 | g.50721614G= | CA2411008360 | SHANK3 | c.3382G= (p.Gly1128=) n.3966G= c.2434G= (p.Gly812=) c.1924G= (p.Gly642=) c.*2380G= (n.*2380G=) c.3778G= (p.Gly1260=) c.3760G= (p.Gly1254=) | |
| 22 | g.50721614G>T | CA515263012 | SHANK3 | c.3382G>T (p.Gly1128Cys) n.3966G>T c.2434G>T (p.Gly812Cys) c.1924G>T (p.Gly642Cys) c.*2380G>T (n.*2380G>T) c.3778G>T (p.Gly1260Cys) c.3760G>T (p.Gly1254Cys) | |
| 22 | g.50721615G>A | CA515263013 | SHANK3 | c.3383G>A (p.Gly1128Asp) n.3967G>A c.2435G>A (p.Gly812Asp) c.1925G>A (p.Gly642Asp) c.*2381G>A (n.*2381G>A) c.3779G>A (p.Gly1260Asp) c.3761G>A (p.Gly1254Asp) | |
| 22 | g.50721615G>C | CA515263014 | SHANK3 | c.3383G>C (p.Gly1128Ala) n.3967G>C c.2435G>C (p.Gly812Ala) c.1925G>C (p.Gly642Ala) c.*2381G>C (n.*2381G>C) c.3779G>C (p.Gly1260Ala) c.3761G>C (p.Gly1254Ala) | |
| 22 | g.50721615G>T | CA515263015 | SHANK3 | c.3383G>T (p.Gly1128Val) n.3967G>T c.2435G>T (p.Gly812Val) c.1925G>T (p.Gly642Val) c.*2381G>T (n.*2381G>T) c.3779G>T (p.Gly1260Val) c.3761G>T (p.Gly1254Val) | |
| 22 | g.50721616C>A | CA515263016 | SHANK3 | c.3384C>A (p.Gly1128=) n.3968C>A c.2436C>A (p.Gly812=) c.1926C>A (p.Gly642=) c.*2382C>A (n.*2382C>A) c.3780C>A (p.Gly1260=) c.3762C>A (p.Gly1254=) | |
| 22 | g.50721616C>G | CA515263017 | SHANK3 | c.3384C>G (p.Gly1128=) n.3968C>G c.2436C>G (p.Gly812=) c.1926C>G (p.Gly642=) c.*2382C>G (n.*2382C>G) c.3780C>G (p.Gly1260=) c.3762C>G (p.Gly1254=) | |
| 22 | g.50721616C>T | CA515263018 | SHANK3 | c.3384C>T (p.Gly1128=) n.3968C>T c.2436C>T (p.Gly812=) c.1926C>T (p.Gly642=) c.*2382C>T (n.*2382C>T) c.3780C>T (p.Gly1260=) c.3762C>T (p.Gly1254=) | gnomAD v4 |
| 22 | g.50721617A= | CA2411008361 | SHANK3 | c.3385A= (p.Thr1129=) n.3969A= c.2437A= (p.Thr813=) c.1927A= (p.Thr643=) c.*2383A= (n.*2383A=) c.3781A= (p.Thr1261=) c.3763A= (p.Thr1255=) | |
| 22 | g.50721617A>C | CA10326134 | SHANK3 | c.3385A>C (p.Thr1129Pro) n.3969A>C c.2437A>C (p.Thr813Pro) c.1927A>C (p.Thr643Pro) c.*2383A>C (n.*2383A>C) c.3781A>C (p.Thr1261Pro) c.3763A>C (p.Thr1255Pro) | dbSNP ExAC gnomAD v2 |
| 22 | g.50721617A>G | CA515263019 | SHANK3 | c.3385A>G (p.Thr1129Ala) n.3969A>G c.2437A>G (p.Thr813Ala) c.1927A>G (p.Thr643Ala) c.*2383A>G (n.*2383A>G) c.3781A>G (p.Thr1261Ala) c.3763A>G (p.Thr1255Ala) | dbSNP |
| 22 | g.50721617A>T | CA515263020 | SHANK3 | c.3385A>T (p.Thr1129Ser) n.3969A>T c.2437A>T (p.Thr813Ser) c.1927A>T (p.Thr643Ser) c.*2383A>T (n.*2383A>T) c.3781A>T (p.Thr1261Ser) c.3763A>T (p.Thr1255Ser) | |
| 22 | g.50721618C>A | CA515263022 | SHANK3 | c.3386C>A (p.Thr1129Asn) n.3970C>A c.2438C>A (p.Thr813Asn) c.1928C>A (p.Thr643Asn) c.*2384C>A (n.*2384C>A) c.3782C>A (p.Thr1261Asn) c.3764C>A (p.Thr1255Asn) | |
| 22 | g.50721618C= | CA2411008362 | SHANK3 | c.3386C= (p.Thr1129=) n.3970C= c.2438C= (p.Thr813=) c.1928C= (p.Thr643=) c.*2384C= (n.*2384C=) c.3782C= (p.Thr1261=) c.3764C= (p.Thr1255=) | |
| 22 | g.50721618C>G | CA515263021 | SHANK3 | c.3386C>G (p.Thr1129Ser) n.3970C>G c.2438C>G (p.Thr813Ser) c.1928C>G (p.Thr643Ser) c.*2384C>G (n.*2384C>G) c.3782C>G (p.Thr1261Ser) c.3764C>G (p.Thr1255Ser) | |
| 22 | g.50721618C>T | CA10326135 | SHANK3 | c.3386C>T (p.Thr1129Ile) n.3970C>T c.2438C>T (p.Thr813Ile) c.1928C>T (p.Thr643Ile) c.*2384C>T (n.*2384C>T) c.3782C>T (p.Thr1261Ile) c.3764C>T (p.Thr1255Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721621dup | CA658824124 | SHANK3 | c.3389dup (p.Ala1131GlyfsTer?) n.3973dup c.2441dup (p.Ala815GlyfsTer?) c.1931dup (p.Ala645GlyfsTer?) c.*2387dup (n.*2387dup) c.3785dup (p.Ala1263GlyfsTer?) c.3767dup (p.Ala1257GlyfsTer?) | ClinVar dbSNP |
| 22 | g.50721619_50721636del | CA2657581054 | SHANK3 | c.3387_3404del (p.Pro1130_Pro1135del) n.3971_3988del c.2439_2456del (p.Pro814_Pro819del) c.1929_1946del (p.Pro644_Pro649del) c.*2385_*2402del (n.*2385_*2402del) c.3783_3800del (p.Pro1262_Pro1267del) c.3765_3782del (p.Pro1256_Pro1261del) | gnomAD v4 |
| 22 | g.50721619C>A | CA515263023 | SHANK3 | c.3387C>A (p.Thr1129=) n.3971C>A c.2439C>A (p.Thr813=) c.1929C>A (p.Thr643=) c.*2385C>A (n.*2385C>A) c.3783C>A (p.Thr1261=) c.3765C>A (p.Thr1255=) | |
| 22 | g.50721619C>G | CA515263024 | SHANK3 | c.3387C>G (p.Thr1129=) n.3971C>G c.2439C>G (p.Thr813=) c.1929C>G (p.Thr643=) c.*2385C>G (n.*2385C>G) c.3783C>G (p.Thr1261=) c.3765C>G (p.Thr1255=) | |
| 22 | g.50721619C>T | CA515263025 | SHANK3 | c.3387C>T (p.Thr1129=) n.3971C>T c.2439C>T (p.Thr813=) c.1929C>T (p.Thr643=) c.*2385C>T (n.*2385C>T) c.3783C>T (p.Thr1261=) c.3765C>T (p.Thr1255=) | |
| 22 | g.50721620C>A | CA515263026 | SHANK3 | c.3388C>A (p.Pro1130Thr) n.3972C>A c.2440C>A (p.Pro814Thr) c.1930C>A (p.Pro644Thr) c.*2386C>A (n.*2386C>A) c.3784C>A (p.Pro1262Thr) c.3766C>A (p.Pro1256Thr) | |
| 22 | g.50721620C= | CA2411008363 | SHANK3 | c.3388C= (p.Pro1130=) n.3972C= c.2440C= (p.Pro814=) c.1930C= (p.Pro644=) c.*2386C= (n.*2386C=) c.3784C= (p.Pro1262=) c.3766C= (p.Pro1256=) | |
| 22 | g.50721620C>G | CA515263027 | SHANK3 | c.3388C>G (p.Pro1130Ala) n.3972C>G c.2440C>G (p.Pro814Ala) c.1930C>G (p.Pro644Ala) c.*2386C>G (n.*2386C>G) c.3784C>G (p.Pro1262Ala) c.3766C>G (p.Pro1256Ala) | gnomAD v4 |
| 22 | g.50721620C>T | CA10326136 | SHANK3 | c.3388C>T (p.Pro1130Ser) n.3972C>T c.2440C>T (p.Pro814Ser) c.1930C>T (p.Pro644Ser) c.*2386C>T (n.*2386C>T) c.3784C>T (p.Pro1262Ser) c.3766C>T (p.Pro1256Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721621C>A | CA515263028 | SHANK3 | c.3389C>A (p.Pro1130Gln) n.3973C>A c.2441C>A (p.Pro814Gln) c.1931C>A (p.Pro644Gln) c.*2387C>A (n.*2387C>A) c.3785C>A (p.Pro1262Gln) c.3767C>A (p.Pro1256Gln) | |
| 22 | g.50721621C= | CA2411008364 | SHANK3 | c.3389C= (p.Pro1130=) n.3973C= c.2441C= (p.Pro814=) c.1931C= (p.Pro644=) c.*2387C= (n.*2387C=) c.3785C= (p.Pro1262=) c.3767C= (p.Pro1256=) | |
| 22 | g.50721621C>G | CA515263029 | SHANK3 | c.3389C>G (p.Pro1130Arg) n.3973C>G c.2441C>G (p.Pro814Arg) c.1931C>G (p.Pro644Arg) c.*2387C>G (n.*2387C>G) c.3785C>G (p.Pro1262Arg) c.3767C>G (p.Pro1256Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721621C>T | CA10326137 | SHANK3 | c.3389C>T (p.Pro1130Leu) n.3973C>T c.2441C>T (p.Pro814Leu) c.1931C>T (p.Pro644Leu) c.*2387C>T (n.*2387C>T) c.3785C>T (p.Pro1262Leu) c.3767C>T (p.Pro1256Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721622G>A | CA10326138 | SHANK3 | c.3390G>A (p.Pro1130=) n.3974G>A c.2442G>A (p.Pro814=) c.1932G>A (p.Pro644=) c.*2388G>A (n.*2388G>A) c.3786G>A (p.Pro1262=) c.3768G>A (p.Pro1256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721622G>C | CA515263030 | SHANK3 | c.3390G>C (p.Pro1130=) n.3974G>C c.2442G>C (p.Pro814=) c.1932G>C (p.Pro644=) c.*2388G>C (n.*2388G>C) c.3786G>C (p.Pro1262=) c.3768G>C (p.Pro1256=) | |
| 22 | g.50721622G= | CA2411008365 | SHANK3 | c.3390G= (p.Pro1130=) n.3974G= c.2442G= (p.Pro814=) c.1932G= (p.Pro644=) c.*2388G= (n.*2388G=) c.3786G= (p.Pro1262=) c.3768G= (p.Pro1256=) | |
| 22 | g.50721622G>T | CA515263031 | SHANK3 | c.3390G>T (p.Pro1130=) n.3974G>T c.2442G>T (p.Pro814=) c.1932G>T (p.Pro644=) c.*2388G>T (n.*2388G>T) c.3786G>T (p.Pro1262=) c.3768G>T (p.Pro1256=) | gnomAD v4 |
| 22 | g.50721623G>A | CA515263033 | SHANK3 | c.3391G>A (p.Ala1131Thr) n.3975G>A c.2443G>A (p.Ala815Thr) c.1933G>A (p.Ala645Thr) c.*2389G>A (n.*2389G>A) c.3787G>A (p.Ala1263Thr) c.3769G>A (p.Ala1257Thr) | gnomAD v4 |
| 22 | g.50721623G>C | CA515263034 | SHANK3 | c.3391G>C (p.Ala1131Pro) n.3975G>C c.2443G>C (p.Ala815Pro) c.1933G>C (p.Ala645Pro) c.*2389G>C (n.*2389G>C) c.3787G>C (p.Ala1263Pro) c.3769G>C (p.Ala1257Pro) | |
| 22 | g.50721623G>T | CA515263032 | SHANK3 | c.3391G>T (p.Ala1131Ser) n.3975G>T c.2443G>T (p.Ala815Ser) c.1933G>T (p.Ala645Ser) c.*2389G>T (n.*2389G>T) c.3787G>T (p.Ala1263Ser) c.3769G>T (p.Ala1257Ser) | gnomAD v4 |
| 22 | g.50721624C>A | CA515263035 | SHANK3 | c.3392C>A (p.Ala1131Glu) n.3976C>A c.2444C>A (p.Ala815Glu) c.1934C>A (p.Ala645Glu) c.*2390C>A (n.*2390C>A) c.3788C>A (p.Ala1263Glu) c.3770C>A (p.Ala1257Glu) | gnomAD v4 |
| 22 | g.50721624C>G | CA515263036 | SHANK3 | c.3392C>G (p.Ala1131Gly) n.3976C>G c.2444C>G (p.Ala815Gly) c.1934C>G (p.Ala645Gly) c.*2390C>G (n.*2390C>G) c.3788C>G (p.Ala1263Gly) c.3770C>G (p.Ala1257Gly) | |
| 22 | g.50721624C>T | CA515263037 | SHANK3 | c.3392C>T (p.Ala1131Val) n.3976C>T c.2444C>T (p.Ala815Val) c.1934C>T (p.Ala645Val) c.*2390C>T (n.*2390C>T) c.3788C>T (p.Ala1263Val) c.3770C>T (p.Ala1257Val) | |
| 22 | g.50721625A>C | CA515263038 | SHANK3 | c.3393A>C (p.Ala1131=) n.3977A>C c.2445A>C (p.Ala815=) c.1935A>C (p.Ala645=) c.*2391A>C (n.*2391A>C) c.3789A>C (p.Ala1263=) c.3771A>C (p.Ala1257=) | |
| 22 | g.50721625A>G | CA515263039 | SHANK3 | c.3393A>G (p.Ala1131=) n.3977A>G c.2445A>G (p.Ala815=) c.1935A>G (p.Ala645=) c.*2391A>G (n.*2391A>G) c.3789A>G (p.Ala1263=) c.3771A>G (p.Ala1257=) | |
| 22 | g.50721625A>T | CA515263040 | SHANK3 | c.3393A>T (p.Ala1131=) n.3977A>T c.2445A>T (p.Ala815=) c.1935A>T (p.Ala645=) c.*2391A>T (n.*2391A>T) c.3789A>T (p.Ala1263=) c.3771A>T (p.Ala1257=) | |
| 22 | g.50721626G>A | CA10326139 | SHANK3 | c.3394G>A (p.Asp1132Asn) n.3978G>A c.2446G>A (p.Asp816Asn) c.1936G>A (p.Asp646Asn) c.*2392G>A (n.*2392G>A) c.3790G>A (p.Asp1264Asn) c.3772G>A (p.Asp1258Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721626G>C | CA515263041 | SHANK3 | c.3394G>C (p.Asp1132His) n.3978G>C c.2446G>C (p.Asp816His) c.1936G>C (p.Asp646His) c.*2392G>C (n.*2392G>C) c.3790G>C (p.Asp1264His) c.3772G>C (p.Asp1258His) | ClinVar |
| 22 | g.50721626G= | CA2411008366 | SHANK3 | c.3394G= (p.Asp1132=) n.3978G= c.2446G= (p.Asp816=) c.1936G= (p.Asp646=) c.*2392G= (n.*2392G=) c.3790G= (p.Asp1264=) c.3772G= (p.Asp1258=) | |
| 22 | g.50721626G>T | CA515263042 | SHANK3 | c.3394G>T (p.Asp1132Tyr) n.3978G>T c.2446G>T (p.Asp816Tyr) c.1936G>T (p.Asp646Tyr) c.*2392G>T (n.*2392G>T) c.3790G>T (p.Asp1264Tyr) c.3772G>T (p.Asp1258Tyr) | |
| 22 | g.50721627A= | CA2411008367 | SHANK3 | c.3395A= (p.Asp1132=) n.3979A= c.2447A= (p.Asp816=) c.1937A= (p.Asp646=) c.*2393A= (n.*2393A=) c.3791A= (p.Asp1264=) c.3773A= (p.Asp1258=) | |
| 22 | g.50721627A>C | CA515263043 | SHANK3 | c.3395A>C (p.Asp1132Ala) n.3979A>C c.2447A>C (p.Asp816Ala) c.1937A>C (p.Asp646Ala) c.*2393A>C (n.*2393A>C) c.3791A>C (p.Asp1264Ala) c.3773A>C (p.Asp1258Ala) | |
| 22 | g.50721627A>G | CA515263044 | SHANK3 | c.3395A>G (p.Asp1132Gly) n.3979A>G c.2447A>G (p.Asp816Gly) c.1937A>G (p.Asp646Gly) c.*2393A>G (n.*2393A>G) c.3791A>G (p.Asp1264Gly) c.3773A>G (p.Asp1258Gly) | |
| 22 | g.50721627A>T | CA10326140 | SHANK3 | c.3395A>T (p.Asp1132Val) n.3979A>T c.2447A>T (p.Asp816Val) c.1937A>T (p.Asp646Val) c.*2393A>T (n.*2393A>T) c.3791A>T (p.Asp1264Val) c.3773A>T (p.Asp1258Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721628C>A | CA515263045 | SHANK3 | c.3396C>A (p.Asp1132Glu) n.3980C>A c.2448C>A (p.Asp816Glu) c.1938C>A (p.Asp646Glu) c.*2394C>A (n.*2394C>A) c.3792C>A (p.Asp1264Glu) c.3774C>A (p.Asp1258Glu) | gnomAD v4 |
| 22 | g.50721628C= | CA2411008368 | SHANK3 | c.3396C= (p.Asp1132=) n.3980C= c.2448C= (p.Asp816=) c.1938C= (p.Asp646=) c.*2394C= (n.*2394C=) c.3792C= (p.Asp1264=) c.3774C= (p.Asp1258=) | |
| 22 | g.50721628C>G | CA515263046 | SHANK3 | c.3396C>G (p.Asp1132Glu) n.3980C>G c.2448C>G (p.Asp816Glu) c.1938C>G (p.Asp646Glu) c.*2394C>G (n.*2394C>G) c.3792C>G (p.Asp1264Glu) c.3774C>G (p.Asp1258Glu) | |
| 22 | g.50721628C>T | CA10326141 | SHANK3 | c.3396C>T (p.Asp1132=) n.3980C>T c.2448C>T (p.Asp816=) c.1938C>T (p.Asp646=) c.*2394C>T (n.*2394C>T) c.3792C>T (p.Asp1264=) c.3774C>T (p.Asp1258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721629G>A | CA10326142 | SHANK3 | c.3397G>A (p.Ala1133Thr) n.3981G>A c.2449G>A (p.Ala817Thr) c.1939G>A (p.Ala647Thr) c.*2395G>A (n.*2395G>A) c.3793G>A (p.Ala1265Thr) c.3775G>A (p.Ala1259Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721629G>C | CA515263048 | SHANK3 | c.3397G>C (p.Ala1133Pro) n.3981G>C c.2449G>C (p.Ala817Pro) c.1939G>C (p.Ala647Pro) c.*2395G>C (n.*2395G>C) c.3793G>C (p.Ala1265Pro) c.3775G>C (p.Ala1259Pro) | |
| 22 | g.50721629G= | CA2411008369 | SHANK3 | c.3397G= (p.Ala1133=) n.3981G= c.2449G= (p.Ala817=) c.1939G= (p.Ala647=) c.*2395G= (n.*2395G=) c.3793G= (p.Ala1265=) c.3775G= (p.Ala1259=) | |
| 22 | g.50721629G>T | CA515263047 | SHANK3 | c.3397G>T (p.Ala1133Ser) n.3981G>T c.2449G>T (p.Ala817Ser) c.1939G>T (p.Ala647Ser) c.*2395G>T (n.*2395G>T) c.3793G>T (p.Ala1265Ser) c.3775G>T (p.Ala1259Ser) | |
| 22 | g.50721630C>A | CA515263049 | SHANK3 | c.3398C>A (p.Ala1133Asp) n.3982C>A c.2450C>A (p.Ala817Asp) c.1940C>A (p.Ala647Asp) c.*2396C>A (n.*2396C>A) c.3794C>A (p.Ala1265Asp) c.3776C>A (p.Ala1259Asp) | |
| 22 | g.50721630C>G | CA515263050 | SHANK3 | c.3398C>G (p.Ala1133Gly) n.3982C>G c.2450C>G (p.Ala817Gly) c.1940C>G (p.Ala647Gly) c.*2396C>G (n.*2396C>G) c.3794C>G (p.Ala1265Gly) c.3776C>G (p.Ala1259Gly) | |
| 22 | g.50721630C>T | CA515263051 | SHANK3 | c.3398C>T (p.Ala1133Val) n.3982C>T c.2450C>T (p.Ala817Val) c.1940C>T (p.Ala647Val) c.*2396C>T (n.*2396C>T) c.3794C>T (p.Ala1265Val) c.3776C>T (p.Ala1259Val) | |
| 22 | g.50721631C>A | CA515263052 | SHANK3 | c.3399C>A (p.Ala1133=) n.3983C>A c.2451C>A (p.Ala817=) c.1941C>A (p.Ala647=) c.*2397C>A (n.*2397C>A) c.3795C>A (p.Ala1265=) c.3777C>A (p.Ala1259=) | gnomAD v4 |
| 22 | g.50721631C= | CA2411008370 | SHANK3 | c.3399C= (p.Ala1133=) n.3983C= c.2451C= (p.Ala817=) c.1941C= (p.Ala647=) c.*2397C= (n.*2397C=) c.3795C= (p.Ala1265=) c.3777C= (p.Ala1259=) | |
| 22 | g.50721631C>G | CA325579546 | SHANK3 | c.3399C>G (p.Ala1133=) n.3983C>G c.2451C>G (p.Ala817=) c.1941C>G (p.Ala647=) c.*2397C>G (n.*2397C>G) c.3795C>G (p.Ala1265=) c.3777C>G (p.Ala1259=) | dbSNP |
| 22 | g.50721631C>T | CA10326143 | SHANK3 | c.3399C>T (p.Ala1133=) n.3983C>T c.2451C>T (p.Ala817=) c.1941C>T (p.Ala647=) c.*2397C>T (n.*2397C>T) c.3795C>T (p.Ala1265=) c.3777C>T (p.Ala1259=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721632G>A | CA10326144 | SHANK3 | c.3400G>A (p.Gly1134Arg) n.3984G>A c.2452G>A (p.Gly818Arg) c.1942G>A (p.Gly648Arg) c.*2398G>A (n.*2398G>A) c.3796G>A (p.Gly1266Arg) c.3778G>A (p.Gly1260Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721632G>C | CA10326145 | SHANK3 | c.3400G>C (p.Gly1134Arg) n.3984G>C c.2452G>C (p.Gly818Arg) c.1942G>C (p.Gly648Arg) c.*2398G>C (n.*2398G>C) c.3796G>C (p.Gly1266Arg) c.3778G>C (p.Gly1260Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721632G= | CA2411008371 | SHANK3 | c.3400G= (p.Gly1134=) n.3984G= c.2452G= (p.Gly818=) c.1942G= (p.Gly648=) c.*2398G= (n.*2398G=) c.3796G= (p.Gly1266=) c.3778G= (p.Gly1260=) | |
| 22 | g.50721632G>T | CA515263053 | SHANK3 | c.3400G>T (p.Gly1134Trp) n.3984G>T c.2452G>T (p.Gly818Trp) c.1942G>T (p.Gly648Trp) c.*2398G>T (n.*2398G>T) c.3796G>T (p.Gly1266Trp) c.3778G>T (p.Gly1260Trp) | gnomAD v4 |
| 22 | g.50721633G>A | CA515263054 | SHANK3 | c.3401G>A (p.Gly1134Glu) n.3985G>A c.2453G>A (p.Gly818Glu) c.1943G>A (p.Gly648Glu) c.*2399G>A (n.*2399G>A) c.3797G>A (p.Gly1266Glu) c.3779G>A (p.Gly1260Glu) | |
| 22 | g.50721633G>C | CA515263055 | SHANK3 | c.3401G>C (p.Gly1134Ala) n.3985G>C c.2453G>C (p.Gly818Ala) c.1943G>C (p.Gly648Ala) c.*2399G>C (n.*2399G>C) c.3797G>C (p.Gly1266Ala) c.3779G>C (p.Gly1260Ala) | |
| 22 | g.50721633G>T | CA515263056 | SHANK3 | c.3401G>T (p.Gly1134Val) n.3985G>T c.2453G>T (p.Gly818Val) c.1943G>T (p.Gly648Val) c.*2399G>T (n.*2399G>T) c.3797G>T (p.Gly1266Val) c.3779G>T (p.Gly1260Val) | |
| 22 | g.50721634G>A | CA515263057 | SHANK3 | c.3402G>A (p.Gly1134=) n.3986G>A c.2454G>A (p.Gly818=) c.1944G>A (p.Gly648=) c.*2400G>A (n.*2400G>A) c.3798G>A (p.Gly1266=) c.3780G>A (p.Gly1260=) | gnomAD v4 |
| 22 | g.50721634G>C | CA515263059 | SHANK3 | c.3402G>C (p.Gly1134=) n.3986G>C c.2454G>C (p.Gly818=) c.1944G>C (p.Gly648=) c.*2400G>C (n.*2400G>C) c.3798G>C (p.Gly1266=) c.3780G>C (p.Gly1260=) | |
| 22 | g.50721634G= | CA2411008372 | SHANK3 | c.3402G= (p.Gly1134=) n.3986G= c.2454G= (p.Gly818=) c.1944G= (p.Gly648=) c.*2400G= (n.*2400G=) c.3798G= (p.Gly1266=) c.3780G= (p.Gly1260=) | |
| 22 | g.50721634G>T | CA515263058 | SHANK3 | c.3402G>T (p.Gly1134=) n.3986G>T c.2454G>T (p.Gly818=) c.1944G>T (p.Gly648=) c.*2400G>T (n.*2400G>T) c.3798G>T (p.Gly1266=) c.3780G>T (p.Gly1260=) | dbSNP |
| 22 | g.50721635C>A | CA515263060 | SHANK3 | c.3403C>A (p.Pro1135Thr) n.3987C>A c.2455C>A (p.Pro819Thr) c.1945C>A (p.Pro649Thr) c.*2401C>A (n.*2401C>A) c.3799C>A (p.Pro1267Thr) c.3781C>A (p.Pro1261Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721635C= | CA2411008373 | SHANK3 | c.3403C= (p.Pro1135=) n.3987C= c.2455C= (p.Pro819=) c.1945C= (p.Pro649=) c.*2401C= (n.*2401C=) c.3799C= (p.Pro1267=) c.3781C= (p.Pro1261=) | |
| 22 | g.50721635C>G | CA515263061 | SHANK3 | c.3403C>G (p.Pro1135Ala) n.3987C>G c.2455C>G (p.Pro819Ala) c.1945C>G (p.Pro649Ala) c.*2401C>G (n.*2401C>G) c.3799C>G (p.Pro1267Ala) c.3781C>G (p.Pro1261Ala) | dbSNP |
| 22 | g.50721635C>T | CA10326146 | SHANK3 | c.3403C>T (p.Pro1135Ser) n.3987C>T c.2455C>T (p.Pro819Ser) c.1945C>T (p.Pro649Ser) c.*2401C>T (n.*2401C>T) c.3799C>T (p.Pro1267Ser) c.3781C>T (p.Pro1261Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721636C>A | CA515263062 | SHANK3 | c.3404C>A (p.Pro1135Gln) n.3988C>A c.2456C>A (p.Pro819Gln) c.1946C>A (p.Pro649Gln) c.*2402C>A (n.*2402C>A) c.3800C>A (p.Pro1267Gln) c.3782C>A (p.Pro1261Gln) | |
| 22 | g.50721636C= | CA2411008374 | SHANK3 | c.3404C= (p.Pro1135=) n.3988C= c.2456C= (p.Pro819=) c.1946C= (p.Pro649=) c.*2402C= (n.*2402C=) c.3800C= (p.Pro1267=) c.3782C= (p.Pro1261=) | |
| 22 | g.50721636C>G | CA515263063 | SHANK3 | c.3404C>G (p.Pro1135Arg) n.3988C>G c.2456C>G (p.Pro819Arg) c.1946C>G (p.Pro649Arg) c.*2402C>G (n.*2402C>G) c.3800C>G (p.Pro1267Arg) c.3782C>G (p.Pro1261Arg) | gnomAD v4 |
| 22 | g.50721636C>T | CA10326147 | SHANK3 | c.3404C>T (p.Pro1135Leu) n.3988C>T c.2456C>T (p.Pro819Leu) c.1946C>T (p.Pro649Leu) c.*2402C>T (n.*2402C>T) c.3800C>T (p.Pro1267Leu) c.3782C>T (p.Pro1261Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721637A>C | CA515263064 | SHANK3 | c.3405A>C (p.Pro1135=) n.3989A>C c.2457A>C (p.Pro819=) c.1947A>C (p.Pro649=) c.*2403A>C (n.*2403A>C) c.3801A>C (p.Pro1267=) c.3783A>C (p.Pro1261=) | |
| 22 | g.50721637A>G | CA515263065 | SHANK3 | c.3405A>G (p.Pro1135=) n.3989A>G c.2457A>G (p.Pro819=) c.1947A>G (p.Pro649=) c.*2403A>G (n.*2403A>G) c.3801A>G (p.Pro1267=) c.3783A>G (p.Pro1261=) | |
| 22 | g.50721637A>T | CA515263066 | SHANK3 | c.3405A>T (p.Pro1135=) n.3989A>T c.2457A>T (p.Pro819=) c.1947A>T (p.Pro649=) c.*2403A>T (n.*2403A>T) c.3801A>T (p.Pro1267=) c.3783A>T (p.Pro1261=) | |
| 22 | g.50721638G>A | CA515263067 | SHANK3 | c.3406G>A (p.Gly1136Ser) n.3990G>A c.2458G>A (p.Gly820Ser) c.1948G>A (p.Gly650Ser) c.*2404G>A (n.*2404G>A) c.3802G>A (p.Gly1268Ser) c.3784G>A (p.Gly1262Ser) | |
| 22 | g.50721638G>C | CA10326149 | SHANK3 | c.3406G>C (p.Gly1136Arg) n.3990G>C c.2458G>C (p.Gly820Arg) c.1948G>C (p.Gly650Arg) c.*2404G>C (n.*2404G>C) c.3802G>C (p.Gly1268Arg) c.3784G>C (p.Gly1262Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721638G= | CA2411008375 | SHANK3 | c.3406G= (p.Gly1136=) n.3990G= c.2458G= (p.Gly820=) c.1948G= (p.Gly650=) c.*2404G= (n.*2404G=) c.3802G= (p.Gly1268=) c.3784G= (p.Gly1262=) | |
| 22 | g.50721638G>T | CA10326148 | SHANK3 | c.3406G>T (p.Gly1136Cys) n.3990G>T c.2458G>T (p.Gly820Cys) c.1948G>T (p.Gly650Cys) c.*2404G>T (n.*2404G>T) c.3802G>T (p.Gly1268Cys) c.3784G>T (p.Gly1262Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721639G>A | CA515263070 | SHANK3 | c.3407G>A (p.Gly1136Asp) n.3991G>A c.2459G>A (p.Gly820Asp) c.1949G>A (p.Gly650Asp) c.*2405G>A (n.*2405G>A) c.3803G>A (p.Gly1268Asp) c.3785G>A (p.Gly1262Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721639G>C | CA515263069 | SHANK3 | c.3407G>C (p.Gly1136Ala) n.3991G>C c.2459G>C (p.Gly820Ala) c.1949G>C (p.Gly650Ala) c.*2405G>C (n.*2405G>C) c.3803G>C (p.Gly1268Ala) c.3785G>C (p.Gly1262Ala) | |
| 22 | g.50721639G= | CA2411008376 | SHANK3 | c.3407G= (p.Gly1136=) n.3991G= c.2459G= (p.Gly820=) c.1949G= (p.Gly650=) c.*2405G= (n.*2405G=) c.3803G= (p.Gly1268=) c.3785G= (p.Gly1262=) | |
| 22 | g.50721639G>T | CA515263068 | SHANK3 | c.3407G>T (p.Gly1136Val) n.3991G>T c.2459G>T (p.Gly820Val) c.1949G>T (p.Gly650Val) c.*2405G>T (n.*2405G>T) c.3803G>T (p.Gly1268Val) c.3785G>T (p.Gly1262Val) | |
| 22 | g.50721640C>A | CA515263071 | SHANK3 | c.3408C>A (p.Gly1136=) n.3992C>A c.2460C>A (p.Gly820=) c.1950C>A (p.Gly650=) c.*2406C>A (n.*2406C>A) c.3804C>A (p.Gly1268=) c.3786C>A (p.Gly1262=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721640C= | CA2411008377 | SHANK3 | c.3408C= (p.Gly1136=) n.3992C= c.2460C= (p.Gly820=) c.1950C= (p.Gly650=) c.*2406C= (n.*2406C=) c.3804C= (p.Gly1268=) c.3786C= (p.Gly1262=) | |
| 22 | g.50721640C>G | CA515263072 | SHANK3 | c.3408C>G (p.Gly1136=) n.3992C>G c.2460C>G (p.Gly820=) c.1950C>G (p.Gly650=) c.*2406C>G (n.*2406C>G) c.3804C>G (p.Gly1268=) c.3786C>G (p.Gly1262=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721640C>T | CA515263073 | SHANK3 | c.3408C>T (p.Gly1136=) n.3992C>T c.2460C>T (p.Gly820=) c.1950C>T (p.Gly650=) c.*2406C>T (n.*2406C>T) c.3804C>T (p.Gly1268=) c.3786C>T (p.Gly1262=) | gnomAD v4 |
| 22 | g.50721641C>A | CA515263074 | SHANK3 | c.3409C>A (p.Gln1137Lys) n.3993C>A c.2461C>A (p.Gln821Lys) c.1951C>A (p.Gln651Lys) c.*2407C>A (n.*2407C>A) c.3805C>A (p.Gln1269Lys) c.3787C>A (p.Gln1263Lys) | |
| 22 | g.50721641C>G | CA515263075 | SHANK3 | c.3409C>G (p.Gln1137Glu) n.3993C>G c.2461C>G (p.Gln821Glu) c.1951C>G (p.Gln651Glu) c.*2407C>G (n.*2407C>G) c.3805C>G (p.Gln1269Glu) c.3787C>G (p.Gln1263Glu) | |
| 22 | g.50721641C>T | CA515263076 | SHANK3 | c.3409C>T (p.Gln1137Ter) n.3993C>T c.2461C>T (p.Gln821Ter) c.1951C>T (p.Gln651Ter) c.*2407C>T (n.*2407C>T) c.3805C>T (p.Gln1269Ter) c.3787C>T (p.Gln1263Ter) | |
| 22 | g.50721642A>C | CA515263077 | SHANK3 | c.3410A>C (p.Gln1137Pro) n.3994A>C c.2462A>C (p.Gln821Pro) c.1952A>C (p.Gln651Pro) c.*2408A>C (n.*2408A>C) c.3806A>C (p.Gln1269Pro) c.3788A>C (p.Gln1263Pro) | |
| 22 | g.50721642A>G | CA515263078 | SHANK3 | c.3410A>G (p.Gln1137Arg) n.3994A>G c.2462A>G (p.Gln821Arg) c.1952A>G (p.Gln651Arg) c.*2408A>G (n.*2408A>G) c.3806A>G (p.Gln1269Arg) c.3788A>G (p.Gln1263Arg) | gnomAD v4 |
| 22 | g.50721642A>T | CA515263079 | SHANK3 | c.3410A>T (p.Gln1137Leu) n.3994A>T c.2462A>T (p.Gln821Leu) c.1952A>T (p.Gln651Leu) c.*2408A>T (n.*2408A>T) c.3806A>T (p.Gln1269Leu) c.3788A>T (p.Gln1263Leu) | |
| 22 | g.50721643G>A | CA10326150 | SHANK3 | c.3411G>A (p.Gln1137=) n.3995G>A c.2463G>A (p.Gln821=) c.1953G>A (p.Gln651=) c.*2409G>A (n.*2409G>A) c.3807G>A (p.Gln1269=) c.3789G>A (p.Gln1263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721643G>C | CA515263080 | SHANK3 | c.3411G>C (p.Gln1137His) n.3995G>C c.2463G>C (p.Gln821His) c.1953G>C (p.Gln651His) c.*2409G>C (n.*2409G>C) c.3807G>C (p.Gln1269His) c.3789G>C (p.Gln1263His) | dbSNP |
| 22 | g.50721643G= | CA2411008378 | SHANK3 | c.3411G= (p.Gln1137=) n.3995G= c.2463G= (p.Gln821=) c.1953G= (p.Gln651=) c.*2409G= (n.*2409G=) c.3807G= (p.Gln1269=) c.3789G= (p.Gln1263=) | |
| 22 | g.50721643G>T | CA515263081 | SHANK3 | c.3411G>T (p.Gln1137His) n.3995G>T c.2463G>T (p.Gln821His) c.1953G>T (p.Gln651His) c.*2409G>T (n.*2409G>T) c.3807G>T (p.Gln1269His) c.3789G>T (p.Gln1263His) | |
| 22 | g.50721644G>A | CA515263084 | SHANK3 | c.3412G>A (p.Gly1138Ser) n.3996G>A c.2464G>A (p.Gly822Ser) c.1954G>A (p.Gly652Ser) c.*2410G>A (n.*2410G>A) c.3808G>A (p.Gly1270Ser) c.3790G>A (p.Gly1264Ser) | |
| 22 | g.50721644G>C | CA515263083 | SHANK3 | c.3412G>C (p.Gly1138Arg) n.3996G>C c.2464G>C (p.Gly822Arg) c.1954G>C (p.Gly652Arg) c.*2410G>C (n.*2410G>C) c.3808G>C (p.Gly1270Arg) c.3790G>C (p.Gly1264Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721644G= | CA2411008379 | SHANK3 | c.3412G= (p.Gly1138=) n.3996G= c.2464G= (p.Gly822=) c.1954G= (p.Gly652=) c.*2410G= (n.*2410G=) c.3808G= (p.Gly1270=) c.3790G= (p.Gly1264=) | |
| 22 | g.50721644G>T | CA515263082 | SHANK3 | c.3412G>T (p.Gly1138Cys) n.3996G>T c.2464G>T (p.Gly822Cys) c.1954G>T (p.Gly652Cys) c.*2410G>T (n.*2410G>T) c.3808G>T (p.Gly1270Cys) c.3790G>T (p.Gly1264Cys) | COSMIC COSMIC |
| 22 | g.50721645G>A | CA515263085 | SHANK3 | c.3413G>A (p.Gly1138Asp) n.3997G>A c.2465G>A (p.Gly822Asp) c.1955G>A (p.Gly652Asp) c.*2411G>A (n.*2411G>A) c.3809G>A (p.Gly1270Asp) c.3791G>A (p.Gly1264Asp) | gnomAD v4 |
| 22 | g.50721645G>C | CA515263087 | SHANK3 | c.3413G>C (p.Gly1138Ala) n.3997G>C c.2465G>C (p.Gly822Ala) c.1955G>C (p.Gly652Ala) c.*2411G>C (n.*2411G>C) c.3809G>C (p.Gly1270Ala) c.3791G>C (p.Gly1264Ala) | |
| 22 | g.50721645G>T | CA515263086 | SHANK3 | c.3413G>T (p.Gly1138Val) n.3997G>T c.2465G>T (p.Gly822Val) c.1955G>T (p.Gly652Val) c.*2411G>T (n.*2411G>T) c.3809G>T (p.Gly1270Val) c.3791G>T (p.Gly1264Val) | |
| 22 | g.50721646C>A | CA515263088 | SHANK3 | c.3414C>A (p.Gly1138=) n.3998C>A c.2466C>A (p.Gly822=) c.1956C>A (p.Gly652=) c.*2412C>A (n.*2412C>A) c.3810C>A (p.Gly1270=) c.3792C>A (p.Gly1264=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721646C= | CA2411008380 | SHANK3 | c.3414C= (p.Gly1138=) n.3998C= c.2466C= (p.Gly822=) c.1956C= (p.Gly652=) c.*2412C= (n.*2412C=) c.3810C= (p.Gly1270=) c.3792C= (p.Gly1264=) | |
| 22 | g.50721646C>G | CA515263089 | SHANK3 | c.3414C>G (p.Gly1138=) n.3998C>G c.2466C>G (p.Gly822=) c.1956C>G (p.Gly652=) c.*2412C>G (n.*2412C>G) c.3810C>G (p.Gly1270=) c.3792C>G (p.Gly1264=) | gnomAD v4 |
| 22 | g.50721646C>T | CA10326151 | SHANK3 | c.3414C>T (p.Gly1138=) n.3998C>T c.2466C>T (p.Gly822=) c.1956C>T (p.Gly652=) c.*2412C>T (n.*2412C>T) c.3810C>T (p.Gly1270=) c.3792C>T (p.Gly1264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721647A>C | CA515263090 | SHANK3 | c.3415A>C (p.Ser1139Arg) n.3999A>C c.2467A>C (p.Ser823Arg) c.1957A>C (p.Ser653Arg) c.*2413A>C (n.*2413A>C) c.3811A>C (p.Ser1271Arg) c.3793A>C (p.Ser1265Arg) | |
| 22 | g.50721647A>G | CA515263091 | SHANK3 | c.3415A>G (p.Ser1139Gly) n.3999A>G c.2467A>G (p.Ser823Gly) c.1957A>G (p.Ser653Gly) c.*2413A>G (n.*2413A>G) c.3811A>G (p.Ser1271Gly) c.3793A>G (p.Ser1265Gly) | |
| 22 | g.50721647A>T | CA515263092 | SHANK3 | c.3415A>T (p.Ser1139Cys) n.3999A>T c.2467A>T (p.Ser823Cys) c.1957A>T (p.Ser653Cys) c.*2413A>T (n.*2413A>T) c.3811A>T (p.Ser1271Cys) c.3793A>T (p.Ser1265Cys) | |
| 22 | g.50721648G>A | CA515263093 | SHANK3 | c.3416G>A (p.Ser1139Asn) n.4000G>A c.2468G>A (p.Ser823Asn) c.1958G>A (p.Ser653Asn) c.*2414G>A (n.*2414G>A) c.3812G>A (p.Ser1271Asn) c.3794G>A (p.Ser1265Asn) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50721648G>C | CA515263094 | SHANK3 | c.3416G>C (p.Ser1139Thr) n.4000G>C c.2468G>C (p.Ser823Thr) c.1958G>C (p.Ser653Thr) c.*2414G>C (n.*2414G>C) c.3812G>C (p.Ser1271Thr) c.3794G>C (p.Ser1265Thr) | gnomAD v4 |
| 22 | g.50721648G>T | CA515263095 | SHANK3 | c.3416G>T (p.Ser1139Ile) n.4000G>T c.2468G>T (p.Ser823Ile) c.1958G>T (p.Ser653Ile) c.*2414G>T (n.*2414G>T) c.3812G>T (p.Ser1271Ile) c.3794G>T (p.Ser1265Ile) | |
| 22 | g.50721649C>A | CA515263096 | SHANK3 | c.3417C>A (p.Ser1139Arg) n.4001C>A c.2469C>A (p.Ser823Arg) c.1959C>A (p.Ser653Arg) c.*2415C>A (n.*2415C>A) c.3813C>A (p.Ser1271Arg) c.3795C>A (p.Ser1265Arg) | |
| 22 | g.50721649C= | CA2411008381 | SHANK3 | c.3417C= (p.Ser1139=) n.4001C= c.2469C= (p.Ser823=) c.1959C= (p.Ser653=) c.*2415C= (n.*2415C=) c.3813C= (p.Ser1271=) c.3795C= (p.Ser1265=) | |
| 22 | g.50721649C>G | CA515263097 | SHANK3 | c.3417C>G (p.Ser1139Arg) n.4001C>G c.2469C>G (p.Ser823Arg) c.1959C>G (p.Ser653Arg) c.*2415C>G (n.*2415C>G) c.3813C>G (p.Ser1271Arg) c.3795C>G (p.Ser1265Arg) | gnomAD v4 |
| 22 | g.50721649C>T | CA10326152 | SHANK3 | c.3417C>T (p.Ser1139=) n.4001C>T c.2469C>T (p.Ser823=) c.1959C>T (p.Ser653=) c.*2415C>T (n.*2415C>T) c.3813C>T (p.Ser1271=) c.3795C>T (p.Ser1265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721650T>A | CA515263100 | SHANK3 | c.3418T>A (p.Ser1140Thr) n.4002T>A c.2470T>A (p.Ser824Thr) c.1960T>A (p.Ser654Thr) c.*2416T>A (n.*2416T>A) c.3814T>A (p.Ser1272Thr) c.3796T>A (p.Ser1266Thr) | |
| 22 | g.50721650T>C | CA515263098 | SHANK3 | c.3418T>C (p.Ser1140Pro) n.4002T>C c.2470T>C (p.Ser824Pro) c.1960T>C (p.Ser654Pro) c.*2416T>C (n.*2416T>C) c.3814T>C (p.Ser1272Pro) c.3796T>C (p.Ser1266Pro) | |
| 22 | g.50721650T>G | CA515263099 | SHANK3 | c.3418T>G (p.Ser1140Ala) n.4002T>G c.2470T>G (p.Ser824Ala) c.1960T>G (p.Ser654Ala) c.*2416T>G (n.*2416T>G) c.3814T>G (p.Ser1272Ala) c.3796T>G (p.Ser1266Ala) | COSMIC COSMIC |
| 22 | g.50721651C>A | CA515263101 | SHANK3 | c.3419C>A (p.Ser1140Ter) n.4003C>A c.2471C>A (p.Ser824Ter) c.1961C>A (p.Ser654Ter) c.*2417C>A (n.*2417C>A) c.3815C>A (p.Ser1272Ter) c.3797C>A (p.Ser1266Ter) | |
| 22 | g.50721651C>G | CA515263102 | SHANK3 | c.3419C>G (p.Ser1140Ter) n.4003C>G c.2471C>G (p.Ser824Ter) c.1961C>G (p.Ser654Ter) c.*2417C>G (n.*2417C>G) c.3815C>G (p.Ser1272Ter) c.3797C>G (p.Ser1266Ter) | |
| 22 | g.50721651C>T | CA515263103 | SHANK3 | c.3419C>T (p.Ser1140Leu) n.4003C>T c.2471C>T (p.Ser824Leu) c.1961C>T (p.Ser654Leu) c.*2417C>T (n.*2417C>T) c.3815C>T (p.Ser1272Leu) c.3797C>T (p.Ser1266Leu) | gnomAD v4 |
| 22 | g.50721652A>C | CA515263104 | SHANK3 | c.3420A>C (p.Ser1140=) n.4004A>C c.2472A>C (p.Ser824=) c.1962A>C (p.Ser654=) c.*2418A>C (n.*2418A>C) c.3816A>C (p.Ser1272=) c.3798A>C (p.Ser1266=) | |
| 22 | g.50721652A>G | CA515263105 | SHANK3 | c.3420A>G (p.Ser1140=) n.4004A>G c.2472A>G (p.Ser824=) c.1962A>G (p.Ser654=) c.*2418A>G (n.*2418A>G) c.3816A>G (p.Ser1272=) c.3798A>G (p.Ser1266=) | |
| 22 | g.50721652A>T | CA515263106 | SHANK3 | c.3420A>T (p.Ser1140=) n.4004A>T c.2472A>T (p.Ser824=) c.1962A>T (p.Ser654=) c.*2418A>T (n.*2418A>T) c.3816A>T (p.Ser1272=) c.3798A>T (p.Ser1266=) | |
| 22 | g.50721653G>A | CA515263107 | SHANK3 | c.3421G>A (p.Glu1141Lys) n.4005G>A c.2473G>A (p.Glu825Lys) c.1963G>A (p.Glu655Lys) c.*2419G>A (n.*2419G>A) c.3817G>A (p.Glu1273Lys) c.3799G>A (p.Glu1267Lys) | dbSNP gnomAD v2 |
| 22 | g.50721653G>C | CA515263108 | SHANK3 | c.3421G>C (p.Glu1141Gln) n.4005G>C c.2473G>C (p.Glu825Gln) c.1963G>C (p.Glu655Gln) c.*2419G>C (n.*2419G>C) c.3817G>C (p.Glu1273Gln) c.3799G>C (p.Glu1267Gln) | |
| 22 | g.50721653G= | CA2411008382 | SHANK3 | c.3421G= (p.Glu1141=) n.4005G= c.2473G= (p.Glu825=) c.1963G= (p.Glu655=) c.*2419G= (n.*2419G=) c.3817G= (p.Glu1273=) c.3799G= (p.Glu1267=) | |
| 22 | g.50721653G>T | CA515263109 | SHANK3 | c.3421G>T (p.Glu1141Ter) n.4005G>T c.2473G>T (p.Glu825Ter) c.1963G>T (p.Glu655Ter) c.*2419G>T (n.*2419G>T) c.3817G>T (p.Glu1273Ter) c.3799G>T (p.Glu1267Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.50721654del | CA2738229743 | SHANK3 | c.3422del (p.Glu1141GlyfsTer10) n.4006del c.2474del (p.Glu825GlyfsTer10) c.1964del (p.Glu655GlyfsTer10) c.*2420del (n.*2420del) c.3818del (p.Glu1273GlyfsTer10) c.3800del (p.Glu1267GlyfsTer10) | dbSNP |
| 22 | g.50721654A>C | CA515263110 | SHANK3 | c.3422A>C (p.Glu1141Ala) n.4006A>C c.2474A>C (p.Glu825Ala) c.1964A>C (p.Glu655Ala) c.*2420A>C (n.*2420A>C) c.3818A>C (p.Glu1273Ala) c.3800A>C (p.Glu1267Ala) | |
| 22 | g.50721654A>G | CA515263111 | SHANK3 | c.3422A>G (p.Glu1141Gly) n.4006A>G c.2474A>G (p.Glu825Gly) c.1964A>G (p.Glu655Gly) c.*2420A>G (n.*2420A>G) c.3818A>G (p.Glu1273Gly) c.3800A>G (p.Glu1267Gly) | |
| 22 | g.50721654A>T | CA515263112 | SHANK3 | c.3422A>T (p.Glu1141Val) n.4006A>T c.2474A>T (p.Glu825Val) c.1964A>T (p.Glu655Val) c.*2420A>T (n.*2420A>T) c.3818A>T (p.Glu1273Val) c.3800A>T (p.Glu1267Val) | |
| 22 | g.50721655G>A | CA515263115 | SHANK3 | c.3423G>A (p.Glu1141=) n.4007G>A c.2475G>A (p.Glu825=) c.1965G>A (p.Glu655=) c.*2421G>A (n.*2421G>A) c.3819G>A (p.Glu1273=) c.3801G>A (p.Glu1267=) | |
| 22 | g.50721655G>C | CA515263114 | SHANK3 | c.3423G>C (p.Glu1141Asp) n.4007G>C c.2475G>C (p.Glu825Asp) c.1965G>C (p.Glu655Asp) c.*2421G>C (n.*2421G>C) c.3819G>C (p.Glu1273Asp) c.3801G>C (p.Glu1267Asp) | |
| 22 | g.50721655G>T | CA515263113 | SHANK3 | c.3423G>T (p.Glu1141Asp) n.4007G>T c.2475G>T (p.Glu825Asp) c.1965G>T (p.Glu655Asp) c.*2421G>T (n.*2421G>T) c.3819G>T (p.Glu1273Asp) c.3801G>T (p.Glu1267Asp) | gnomAD v4 |
| 22 | g.50721656G>A | CA515263118 | SHANK3 | c.3424G>A (p.Glu1142Lys) n.4008G>A c.2476G>A (p.Glu826Lys) c.1966G>A (p.Glu656Lys) c.*2422G>A (n.*2422G>A) c.3820G>A (p.Glu1274Lys) c.3802G>A (p.Glu1268Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721656G>C | CA515263116 | SHANK3 | c.3424G>C (p.Glu1142Gln) n.4008G>C c.2476G>C (p.Glu826Gln) c.1966G>C (p.Glu656Gln) c.*2422G>C (n.*2422G>C) c.3820G>C (p.Glu1274Gln) c.3802G>C (p.Glu1268Gln) | |
| 22 | g.50721656G= | CA2411008383 | SHANK3 | c.3424G= (p.Glu1142=) n.4008G= c.2476G= (p.Glu826=) c.1966G= (p.Glu656=) c.*2422G= (n.*2422G=) c.3820G= (p.Glu1274=) c.3802G= (p.Glu1268=) | |
| 22 | g.50721656G>T | CA515263117 | SHANK3 | c.3424G>T (p.Glu1142Ter) n.4008G>T c.2476G>T (p.Glu826Ter) c.1966G>T (p.Glu656Ter) c.*2422G>T (n.*2422G>T) c.3820G>T (p.Glu1274Ter) c.3802G>T (p.Glu1268Ter) | |
| 22 | g.50721657A>C | CA515263119 | SHANK3 | c.3425A>C (p.Glu1142Ala) n.4009A>C c.2477A>C (p.Glu826Ala) c.1967A>C (p.Glu656Ala) c.*2423A>C (n.*2423A>C) c.3821A>C (p.Glu1274Ala) c.3803A>C (p.Glu1268Ala) | |
| 22 | g.50721657A>G | CA515263120 | SHANK3 | c.3425A>G (p.Glu1142Gly) n.4009A>G c.2477A>G (p.Glu826Gly) c.1967A>G (p.Glu656Gly) c.*2423A>G (n.*2423A>G) c.3821A>G (p.Glu1274Gly) c.3803A>G (p.Glu1268Gly) | |
| 22 | g.50721657A>T | CA515263121 | SHANK3 | c.3425A>T (p.Glu1142Val) n.4009A>T c.2477A>T (p.Glu826Val) c.1967A>T (p.Glu656Val) c.*2423A>T (n.*2423A>T) c.3821A>T (p.Glu1274Val) c.3803A>T (p.Glu1268Val) | |
| 22 | g.50721658A>C | CA515263124 | SHANK3 | c.3426A>C (p.Glu1142Asp) n.4010A>C c.2478A>C (p.Glu826Asp) c.1968A>C (p.Glu656Asp) c.*2424A>C (n.*2424A>C) c.3822A>C (p.Glu1274Asp) c.3804A>C (p.Glu1268Asp) | |
| 22 | g.50721658A>G | CA515263123 | SHANK3 | c.3426A>G (p.Glu1142=) n.4010A>G c.2478A>G (p.Glu826=) c.1968A>G (p.Glu656=) c.*2424A>G (n.*2424A>G) c.3822A>G (p.Glu1274=) c.3804A>G (p.Glu1268=) | gnomAD v4 |
| 22 | g.50721658A>T | CA515263122 | SHANK3 | c.3426A>T (p.Glu1142Asp) n.4010A>T c.2478A>T (p.Glu826Asp) c.1968A>T (p.Glu656Asp) c.*2424A>T (n.*2424A>T) c.3822A>T (p.Glu1274Asp) c.3804A>T (p.Glu1268Asp) | |
| 22 | g.50721659G>A | CA515263125 | SHANK3 | c.3427G>A (p.Glu1143Lys) n.4011G>A c.2479G>A (p.Glu827Lys) c.1969G>A (p.Glu657Lys) c.*2425G>A (n.*2425G>A) c.3823G>A (p.Glu1275Lys) c.3805G>A (p.Glu1269Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721659G>C | CA515263126 | SHANK3 | c.3427G>C (p.Glu1143Gln) n.4011G>C c.2479G>C (p.Glu827Gln) c.1969G>C (p.Glu657Gln) c.*2425G>C (n.*2425G>C) c.3823G>C (p.Glu1275Gln) c.3805G>C (p.Glu1269Gln) | |
| 22 | g.50721659G= | CA2411008384 | SHANK3 | c.3427G= (p.Glu1143=) n.4011G= c.2479G= (p.Glu827=) c.1969G= (p.Glu657=) c.*2425G= (n.*2425G=) c.3823G= (p.Glu1275=) c.3805G= (p.Glu1269=) | |
| 22 | g.50721659G>T | CA515263127 | SHANK3 | c.3427G>T (p.Glu1143Ter) n.4011G>T c.2479G>T (p.Glu827Ter) c.1969G>T (p.Glu657Ter) c.*2425G>T (n.*2425G>T) c.3823G>T (p.Glu1275Ter) c.3805G>T (p.Glu1269Ter) | |
| 22 | g.50721660A>C | CA515263128 | SHANK3 | c.3428A>C (p.Glu1143Ala) n.4012A>C c.2480A>C (p.Glu827Ala) c.1970A>C (p.Glu657Ala) c.*2426A>C (n.*2426A>C) c.3824A>C (p.Glu1275Ala) c.3806A>C (p.Glu1269Ala) | ClinVar |
| 22 | g.50721660A>G | CA515263129 | SHANK3 | c.3428A>G (p.Glu1143Gly) n.4012A>G c.2480A>G (p.Glu827Gly) c.1970A>G (p.Glu657Gly) c.*2426A>G (n.*2426A>G) c.3824A>G (p.Glu1275Gly) c.3806A>G (p.Glu1269Gly) | gnomAD v4 |
| 22 | g.50721660A>T | CA515263130 | SHANK3 | c.3428A>T (p.Glu1143Val) n.4012A>T c.2480A>T (p.Glu827Val) c.1970A>T (p.Glu657Val) c.*2426A>T (n.*2426A>T) c.3824A>T (p.Glu1275Val) c.3806A>T (p.Glu1269Val) | |
| 22 | g.50721661G>A | CA515263131 | SHANK3 | c.3429G>A (p.Glu1143=) n.4013G>A c.2481G>A (p.Glu827=) c.1971G>A (p.Glu657=) c.*2427G>A (n.*2427G>A) c.3825G>A (p.Glu1275=) c.3807G>A (p.Glu1269=) | |
| 22 | g.50721661G>C | CA515263133 | SHANK3 | c.3429G>C (p.Glu1143Asp) n.4013G>C c.2481G>C (p.Glu827Asp) c.1971G>C (p.Glu657Asp) c.*2427G>C (n.*2427G>C) c.3825G>C (p.Glu1275Asp) c.3807G>C (p.Glu1269Asp) | |
| 22 | g.50721661G>T | CA515263132 | SHANK3 | c.3429G>T (p.Glu1143Asp) n.4013G>T c.2481G>T (p.Glu827Asp) c.1971G>T (p.Glu657Asp) c.*2427G>T (n.*2427G>T) c.3825G>T (p.Glu1275Asp) c.3807G>T (p.Glu1269Asp) | gnomAD v4 |
| 22 | g.50721662C>A | CA515263135 | SHANK3 | c.3430C>A (p.Pro1144Thr) n.4014C>A c.2482C>A (p.Pro828Thr) c.1972C>A (p.Pro658Thr) c.*2428C>A (n.*2428C>A) c.3826C>A (p.Pro1276Thr) c.3808C>A (p.Pro1270Thr) | |
| 22 | g.50721662C>G | CA515263136 | SHANK3 | c.3430C>G (p.Pro1144Ala) n.4014C>G c.2482C>G (p.Pro828Ala) c.1972C>G (p.Pro658Ala) c.*2428C>G (n.*2428C>G) c.3826C>G (p.Pro1276Ala) c.3808C>G (p.Pro1270Ala) | |
| 22 | g.50721662C>T | CA515263137 | SHANK3 | c.3430C>T (p.Pro1144Ser) n.4014C>T c.2482C>T (p.Pro828Ser) c.1972C>T (p.Pro658Ser) c.*2428C>T (n.*2428C>T) c.3826C>T (p.Pro1276Ser) c.3808C>T (p.Pro1270Ser) | gnomAD v4 |
| 22 | g.50721663C>A | CA515263138 | SHANK3 | c.3431C>A (p.Pro1144Gln) n.4015C>A c.2483C>A (p.Pro828Gln) c.1973C>A (p.Pro658Gln) c.*2429C>A (n.*2429C>A) c.3827C>A (p.Pro1276Gln) c.3809C>A (p.Pro1270Gln) | |
| 22 | g.50721663C>G | CA515263139 | SHANK3 | c.3431C>G (p.Pro1144Arg) n.4015C>G c.2483C>G (p.Pro828Arg) c.1973C>G (p.Pro658Arg) c.*2429C>G (n.*2429C>G) c.3827C>G (p.Pro1276Arg) c.3809C>G (p.Pro1270Arg) | |
| 22 | g.50721663C>T | CA515263140 | SHANK3 | c.3431C>T (p.Pro1144Leu) n.4015C>T c.2483C>T (p.Pro828Leu) c.1973C>T (p.Pro658Leu) c.*2429C>T (n.*2429C>T) c.3827C>T (p.Pro1276Leu) c.3809C>T (p.Pro1270Leu) | |
| 22 | g.50721664A= | CA2411008385 | SHANK3 | c.3432A= (p.Pro1144=) n.4016A= c.2484A= (p.Pro828=) c.1974A= (p.Pro658=) c.*2430A= (n.*2430A=) c.3828A= (p.Pro1276=) c.3810A= (p.Pro1270=) | |
| 22 | g.50721664A>C | CA515263141 | SHANK3 | c.3432A>C (p.Pro1144=) n.4016A>C c.2484A>C (p.Pro828=) c.1974A>C (p.Pro658=) c.*2430A>C (n.*2430A>C) c.3828A>C (p.Pro1276=) c.3810A>C (p.Pro1270=) | |
| 22 | g.50721664A>G | CA515263142 | SHANK3 | c.3432A>G (p.Pro1144=) n.4016A>G c.2484A>G (p.Pro828=) c.1974A>G (p.Pro658=) c.*2430A>G (n.*2430A>G) c.3828A>G (p.Pro1276=) c.3810A>G (p.Pro1270=) | dbSNP gnomAD v4 |
| 22 | g.50721664A>T | CA515263143 | SHANK3 | c.3432A>T (p.Pro1144=) n.4016A>T c.2484A>T (p.Pro828=) c.1974A>T (p.Pro658=) c.*2430A>T (n.*2430A>T) c.3828A>T (p.Pro1276=) c.3810A>T (p.Pro1270=) | |
| 22 | g.50721665G>A | CA515263144 | SHANK3 | c.3433G>A (p.Glu1145Lys) n.4017G>A c.2485G>A (p.Glu829Lys) c.1975G>A (p.Glu659Lys) c.*2431G>A (n.*2431G>A) c.3829G>A (p.Glu1277Lys) c.3811G>A (p.Glu1271Lys) | |
| 22 | g.50721665G>C | CA515263145 | SHANK3 | c.3433G>C (p.Glu1145Gln) n.4017G>C c.2485G>C (p.Glu829Gln) c.1975G>C (p.Glu659Gln) c.*2431G>C (n.*2431G>C) c.3829G>C (p.Glu1277Gln) c.3811G>C (p.Glu1271Gln) | |
| 22 | g.50721665G>T | CA515263146 | SHANK3 | c.3433G>T (p.Glu1145Ter) n.4017G>T c.2485G>T (p.Glu829Ter) c.1975G>T (p.Glu659Ter) c.*2431G>T (n.*2431G>T) c.3829G>T (p.Glu1277Ter) c.3811G>T (p.Glu1271Ter) | |
| 22 | g.50721666A>C | CA515263148 | SHANK3 | c.3434A>C (p.Glu1145Ala) n.4018A>C c.2486A>C (p.Glu829Ala) c.1976A>C (p.Glu659Ala) c.*2432A>C (n.*2432A>C) c.3830A>C (p.Glu1277Ala) c.3812A>C (p.Glu1271Ala) | |
| 22 | g.50721666A>G | CA515263149 | SHANK3 | c.3434A>G (p.Glu1145Gly) n.4018A>G c.2486A>G (p.Glu829Gly) c.1976A>G (p.Glu659Gly) c.*2432A>G (n.*2432A>G) c.3830A>G (p.Glu1277Gly) c.3812A>G (p.Glu1271Gly) | |
| 22 | g.50721666A>T | CA515263147 | SHANK3 | c.3434A>T (p.Glu1145Val) n.4018A>T c.2486A>T (p.Glu829Val) c.1976A>T (p.Glu659Val) c.*2432A>T (n.*2432A>T) c.3830A>T (p.Glu1277Val) c.3812A>T (p.Glu1271Val) | |
| 22 | g.50721667G>A | CA515263150 | SHANK3 | c.3435G>A (p.Glu1145=) n.4019G>A c.2487G>A (p.Glu829=) c.1977G>A (p.Glu659=) c.*2433G>A (n.*2433G>A) c.3831G>A (p.Glu1277=) c.3813G>A (p.Glu1271=) | dbSNP gnomAD v4 |
| 22 | g.50721667G>C | CA515263151 | SHANK3 | c.3435G>C (p.Glu1145Asp) n.4019G>C c.2487G>C (p.Glu829Asp) c.1977G>C (p.Glu659Asp) c.*2433G>C (n.*2433G>C) c.3831G>C (p.Glu1277Asp) c.3813G>C (p.Glu1271Asp) | |
| 22 | g.50721667G= | CA2411008386 | SHANK3 | c.3435G= (p.Glu1145=) n.4019G= c.2487G= (p.Glu829=) c.1977G= (p.Glu659=) c.*2433G= (n.*2433G=) c.3831G= (p.Glu1277=) c.3813G= (p.Glu1271=) | |
| 22 | g.50721667G>T | CA10326153 | SHANK3 | c.3435G>T (p.Glu1145Asp) n.4019G>T c.2487G>T (p.Glu829Asp) c.1977G>T (p.Glu659Asp) c.*2433G>T (n.*2433G>T) c.3831G>T (p.Glu1277Asp) c.3813G>T (p.Glu1271Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721668C>A | CA515263152 | SHANK3 | c.3436C>A (p.Leu1146Met) n.4020C>A c.2488C>A (p.Leu830Met) c.1978C>A (p.Leu660Met) c.*2434C>A (n.*2434C>A) c.3832C>A (p.Leu1278Met) c.3814C>A (p.Leu1272Met) | |
| 22 | g.50721668C= | CA2411008387 | SHANK3 | c.3436C= (p.Leu1146=) n.4020C= c.2488C= (p.Leu830=) c.1978C= (p.Leu660=) c.*2434C= (n.*2434C=) c.3832C= (p.Leu1278=) c.3814C= (p.Leu1272=) | |
| 22 | g.50721668C>G | CA515263153 | SHANK3 | c.3436C>G (p.Leu1146Val) n.4020C>G c.2488C>G (p.Leu830Val) c.1978C>G (p.Leu660Val) c.*2434C>G (n.*2434C>G) c.3832C>G (p.Leu1278Val) c.3814C>G (p.Leu1272Val) | dbSNP gnomAD v4 |
| 22 | g.50721668C>T | CA515263154 | SHANK3 | c.3436C>T (p.Leu1146=) n.4020C>T c.2488C>T (p.Leu830=) c.1978C>T (p.Leu660=) c.*2434C>T (n.*2434C>T) c.3832C>T (p.Leu1278=) c.3814C>T (p.Leu1272=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721669T>A | CA515263156 | SHANK3 | c.3437T>A (p.Leu1146Gln) n.4021T>A c.2489T>A (p.Leu830Gln) c.1979T>A (p.Leu660Gln) c.*2435T>A (n.*2435T>A) c.3833T>A (p.Leu1278Gln) c.3815T>A (p.Leu1272Gln) | |
| 22 | g.50721669T>C | CA515263155 | SHANK3 | c.3437T>C (p.Leu1146Pro) n.4021T>C c.2489T>C (p.Leu830Pro) c.1979T>C (p.Leu660Pro) c.*2435T>C (n.*2435T>C) c.3833T>C (p.Leu1278Pro) c.3815T>C (p.Leu1272Pro) | dbSNP gnomAD v4 |
| 22 | g.50721669T>G | CA10326154 | SHANK3 | c.3437T>G (p.Leu1146Arg) n.4021T>G c.2489T>G (p.Leu830Arg) c.1979T>G (p.Leu660Arg) c.*2435T>G (n.*2435T>G) c.3833T>G (p.Leu1278Arg) c.3815T>G (p.Leu1272Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721669T= | CA2411008388 | SHANK3 | c.3437T= (p.Leu1146=) n.4021T= c.2489T= (p.Leu830=) c.1979T= (p.Leu660=) c.*2435T= (n.*2435T=) c.3833T= (p.Leu1278=) c.3815T= (p.Leu1272=) | |
| 22 | g.50721670G>A | CA515263157 | SHANK3 | c.3438G>A (p.Leu1146=) n.4022G>A c.2490G>A (p.Leu830=) c.1980G>A (p.Leu660=) c.*2436G>A (n.*2436G>A) c.3834G>A (p.Leu1278=) c.3816G>A (p.Leu1272=) | gnomAD v4 |
| 22 | g.50721670G>C | CA515263158 | SHANK3 | c.3438G>C (p.Leu1146=) n.4022G>C c.2490G>C (p.Leu830=) c.1980G>C (p.Leu660=) c.*2436G>C (n.*2436G>C) c.3834G>C (p.Leu1278=) c.3816G>C (p.Leu1272=) | |
| 22 | g.50721670G>T | CA515263159 | SHANK3 | c.3438G>T (p.Leu1146=) n.4022G>T c.2490G>T (p.Leu830=) c.1980G>T (p.Leu660=) c.*2436G>T (n.*2436G>T) c.3834G>T (p.Leu1278=) c.3816G>T (p.Leu1272=) | |
| 22 | g.50721671G>A | CA515263160 | SHANK3 | c.3439G>A (p.Val1147Met) n.4023G>A c.2491G>A (p.Val831Met) c.1981G>A (p.Val661Met) c.*2437G>A (n.*2437G>A) c.3835G>A (p.Val1279Met) c.3817G>A (p.Val1273Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721671G>C | CA515263161 | SHANK3 | c.3439G>C (p.Val1147Leu) n.4023G>C c.2491G>C (p.Val831Leu) c.1981G>C (p.Val661Leu) c.*2437G>C (n.*2437G>C) c.3835G>C (p.Val1279Leu) c.3817G>C (p.Val1273Leu) | |
| 22 | g.50721671G= | CA2411008389 | SHANK3 | c.3439G= (p.Val1147=) n.4023G= c.2491G= (p.Val831=) c.1981G= (p.Val661=) c.*2437G= (n.*2437G=) c.3835G= (p.Val1279=) c.3817G= (p.Val1273=) | |
| 22 | g.50721671G>T | CA515263162 | SHANK3 | c.3439G>T (p.Val1147Leu) n.4023G>T c.2491G>T (p.Val831Leu) c.1981G>T (p.Val661Leu) c.*2437G>T (n.*2437G>T) c.3835G>T (p.Val1279Leu) c.3817G>T (p.Val1273Leu) | |
| 22 | g.50721672T>A | CA515263163 | SHANK3 | c.3440T>A (p.Val1147Glu) n.4024T>A c.2492T>A (p.Val831Glu) c.1982T>A (p.Val661Glu) c.*2438T>A (n.*2438T>A) c.3836T>A (p.Val1279Glu) c.3818T>A (p.Val1273Glu) | |
| 22 | g.50721672T>C | CA10326155 | SHANK3 | c.3440T>C (p.Val1147Ala) n.4024T>C c.2492T>C (p.Val831Ala) c.1982T>C (p.Val661Ala) c.*2438T>C (n.*2438T>C) c.3836T>C (p.Val1279Ala) c.3818T>C (p.Val1273Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721672T>G | CA515263164 | SHANK3 | c.3440T>G (p.Val1147Gly) n.4024T>G c.2492T>G (p.Val831Gly) c.1982T>G (p.Val661Gly) c.*2438T>G (n.*2438T>G) c.3836T>G (p.Val1279Gly) c.3818T>G (p.Val1273Gly) | |
| 22 | g.50721672T= | CA2411008390 | SHANK3 | c.3440T= (p.Val1147=) n.4024T= c.2492T= (p.Val831=) c.1982T= (p.Val661=) c.*2438T= (n.*2438T=) c.3836T= (p.Val1279=) c.3818T= (p.Val1273=) | |
| 22 | g.50721673G>A | CA515263165 | SHANK3 | c.3441G>A (p.Val1147=) n.4025G>A c.2493G>A (p.Val831=) c.1983G>A (p.Val661=) c.*2439G>A (n.*2439G>A) c.3837G>A (p.Val1279=) c.3819G>A (p.Val1273=) | |
| 22 | g.50721673G>C | CA515263166 | SHANK3 | c.3441G>C (p.Val1147=) n.4025G>C c.2493G>C (p.Val831=) c.1983G>C (p.Val661=) c.*2439G>C (n.*2439G>C) c.3837G>C (p.Val1279=) c.3819G>C (p.Val1273=) | |
| 22 | g.50721673G>T | CA515263167 | SHANK3 | c.3441G>T (p.Val1147=) n.4025G>T c.2493G>T (p.Val831=) c.1983G>T (p.Val661=) c.*2439G>T (n.*2439G>T) c.3837G>T (p.Val1279=) c.3819G>T (p.Val1273=) | |
| 22 | g.50721674T>A | CA515263168 | SHANK3 | c.3442T>A (p.Phe1148Ile) n.4026T>A c.2494T>A (p.Phe832Ile) c.1984T>A (p.Phe662Ile) c.*2440T>A (n.*2440T>A) c.3838T>A (p.Phe1280Ile) c.3820T>A (p.Phe1274Ile) | |
| 22 | g.50721674T>C | CA515263169 | SHANK3 | c.3442T>C (p.Phe1148Leu) n.4026T>C c.2494T>C (p.Phe832Leu) c.1984T>C (p.Phe662Leu) c.*2440T>C (n.*2440T>C) c.3838T>C (p.Phe1280Leu) c.3820T>C (p.Phe1274Leu) | |
| 22 | g.50721674T>G | CA515263170 | SHANK3 | c.3442T>G (p.Phe1148Val) n.4026T>G c.2494T>G (p.Phe832Val) c.1984T>G (p.Phe662Val) c.*2440T>G (n.*2440T>G) c.3838T>G (p.Phe1280Val) c.3820T>G (p.Phe1274Val) | |
| 22 | g.50721675T>A | CA515263171 | SHANK3 | c.3443T>A (p.Phe1148Tyr) n.4027T>A c.2495T>A (p.Phe832Tyr) c.1985T>A (p.Phe662Tyr) c.*2441T>A (n.*2441T>A) c.3839T>A (p.Phe1280Tyr) c.3821T>A (p.Phe1274Tyr) | |
| 22 | g.50721675T>C | CA515263172 | SHANK3 | c.3443T>C (p.Phe1148Ser) n.4027T>C c.2495T>C (p.Phe832Ser) c.1985T>C (p.Phe662Ser) c.*2441T>C (n.*2441T>C) c.3839T>C (p.Phe1280Ser) c.3821T>C (p.Phe1274Ser) | |
| 22 | g.50721675T>G | CA515263173 | SHANK3 | c.3443T>G (p.Phe1148Cys) n.4027T>G c.2495T>G (p.Phe832Cys) c.1985T>G (p.Phe662Cys) c.*2441T>G (n.*2441T>G) c.3839T>G (p.Phe1280Cys) c.3821T>G (p.Phe1274Cys) | |
| 22 | g.50721676T>A | CA515263174 | SHANK3 | c.3444T>A (p.Phe1148Leu) n.4028T>A c.2496T>A (p.Phe832Leu) c.1986T>A (p.Phe662Leu) c.*2442T>A (n.*2442T>A) c.3840T>A (p.Phe1280Leu) c.3822T>A (p.Phe1274Leu) | |
| 22 | g.50721676T>C | CA515263175 | SHANK3 | c.3444T>C (p.Phe1148=) n.4028T>C c.2496T>C (p.Phe832=) c.1986T>C (p.Phe662=) c.*2442T>C (n.*2442T>C) c.3840T>C (p.Phe1280=) c.3822T>C (p.Phe1274=) | |
| 22 | g.50721676T>G | CA515263176 | SHANK3 | c.3444T>G (p.Phe1148Leu) n.4028T>G c.2496T>G (p.Phe832Leu) c.1986T>G (p.Phe662Leu) c.*2442T>G (n.*2442T>G) c.3840T>G (p.Phe1280Leu) c.3822T>G (p.Phe1274Leu) | |
| 22 | g.50721677G>A | CA515263177 | SHANK3 | c.3445G>A (p.Ala1149Thr) n.4029G>A c.2497G>A (p.Ala833Thr) c.1987G>A (p.Ala663Thr) c.*2443G>A (n.*2443G>A) c.3841G>A (p.Ala1281Thr) c.3823G>A (p.Ala1275Thr) | |
| 22 | g.50721677G>C | CA515263179 | SHANK3 | c.3445G>C (p.Ala1149Pro) n.4029G>C c.2497G>C (p.Ala833Pro) c.1987G>C (p.Ala663Pro) c.*2443G>C (n.*2443G>C) c.3841G>C (p.Ala1281Pro) c.3823G>C (p.Ala1275Pro) | |
| 22 | g.50721677G>T | CA515263178 | SHANK3 | c.3445G>T (p.Ala1149Ser) n.4029G>T c.2497G>T (p.Ala833Ser) c.1987G>T (p.Ala663Ser) c.*2443G>T (n.*2443G>T) c.3841G>T (p.Ala1281Ser) c.3823G>T (p.Ala1275Ser) | |
| 22 | g.50721678C>A | CA515263180 | SHANK3 | c.3446C>A (p.Ala1149Asp) n.4030C>A c.2498C>A (p.Ala833Asp) c.1988C>A (p.Ala663Asp) c.*2444C>A (n.*2444C>A) c.3842C>A (p.Ala1281Asp) c.3824C>A (p.Ala1275Asp) | |
| 22 | g.50721678C>G | CA515263181 | SHANK3 | c.3446C>G (p.Ala1149Gly) n.4030C>G c.2498C>G (p.Ala833Gly) c.1988C>G (p.Ala663Gly) c.*2444C>G (n.*2444C>G) c.3842C>G (p.Ala1281Gly) c.3824C>G (p.Ala1275Gly) | gnomAD v4 |
| 22 | g.50721678C>T | CA515263182 | SHANK3 | c.3446C>T (p.Ala1149Val) n.4030C>T c.2498C>T (p.Ala833Val) c.1988C>T (p.Ala663Val) c.*2444C>T (n.*2444C>T) c.3842C>T (p.Ala1281Val) c.3824C>T (p.Ala1275Val) | |
| 22 | g.50721679T>A | CA515263183 | SHANK3 | c.3447T>A (p.Ala1149=) n.4031T>A c.2499T>A (p.Ala833=) c.1989T>A (p.Ala663=) c.*2445T>A (n.*2445T>A) c.3843T>A (p.Ala1281=) c.3825T>A (p.Ala1275=) | |
| 22 | g.50721679T>C | CA515263184 | SHANK3 | c.3447T>C (p.Ala1149=) n.4031T>C c.2499T>C (p.Ala833=) c.1989T>C (p.Ala663=) c.*2445T>C (n.*2445T>C) c.3843T>C (p.Ala1281=) c.3825T>C (p.Ala1275=) | gnomAD v4 |
| 22 | g.50721679T>G | CA515263186 | SHANK3 | c.3447T>G (p.Ala1149=) n.4031T>G c.2499T>G (p.Ala833=) c.1989T>G (p.Ala663=) c.*2445T>G (n.*2445T>G) c.3843T>G (p.Ala1281=) c.3825T>G (p.Ala1275=) | |
| 22 | g.50721680G>A | CA515263187 | SHANK3 | c.3448G>A (p.Val1150Met) n.4032G>A c.2500G>A (p.Val834Met) c.1990G>A (p.Val664Met) c.*2446G>A (n.*2446G>A) c.3844G>A (p.Val1282Met) c.3826G>A (p.Val1276Met) | dbSNP gnomAD v4 |
| 22 | g.50721680G>C | CA515263188 | SHANK3 | c.3448G>C (p.Val1150Leu) n.4032G>C c.2500G>C (p.Val834Leu) c.1990G>C (p.Val664Leu) c.*2446G>C (n.*2446G>C) c.3844G>C (p.Val1282Leu) c.3826G>C (p.Val1276Leu) | dbSNP gnomAD v4 |
| 22 | g.50721680G= | CA2411008391 | SHANK3 | c.3448G= (p.Val1150=) n.4032G= c.2500G= (p.Val834=) c.1990G= (p.Val664=) c.*2446G= (n.*2446G=) c.3844G= (p.Val1282=) c.3826G= (p.Val1276=) | |
| 22 | g.50721680G>T | CA515263190 | SHANK3 | c.3448G>T (p.Val1150Leu) n.4032G>T c.2500G>T (p.Val834Leu) c.1990G>T (p.Val664Leu) c.*2446G>T (n.*2446G>T) c.3844G>T (p.Val1282Leu) c.3826G>T (p.Val1276Leu) | |
| 22 | g.50721681T>A | CA515263191 | SHANK3 | c.3449T>A (p.Val1150Glu) n.4033T>A c.2501T>A (p.Val834Glu) c.1991T>A (p.Val664Glu) c.*2447T>A (n.*2447T>A) c.3845T>A (p.Val1282Glu) c.3827T>A (p.Val1276Glu) | |
| 22 | g.50721681T>C | CA515263192 | SHANK3 | c.3449T>C (p.Val1150Ala) n.4033T>C c.2501T>C (p.Val834Ala) c.1991T>C (p.Val664Ala) c.*2447T>C (n.*2447T>C) c.3845T>C (p.Val1282Ala) c.3827T>C (p.Val1276Ala) | |
| 22 | g.50721681T>G | CA515263193 | SHANK3 | c.3449T>G (p.Val1150Gly) n.4033T>G c.2501T>G (p.Val834Gly) c.1991T>G (p.Val664Gly) c.*2447T>G (n.*2447T>G) c.3845T>G (p.Val1282Gly) c.3827T>G (p.Val1276Gly) | |
| 22 | g.50721682G>A | CA515263196 | SHANK3 | c.3450G>A (p.Val1150=) n.4034G>A c.2502G>A (p.Val834=) c.1992G>A (p.Val664=) c.*2448G>A (n.*2448G>A) c.3846G>A (p.Val1282=) c.3828G>A (p.Val1276=) | |
| 22 | g.50721682G>C | CA515263195 | SHANK3 | c.3450G>C (p.Val1150=) n.4034G>C c.2502G>C (p.Val834=) c.1992G>C (p.Val664=) c.*2448G>C (n.*2448G>C) c.3846G>C (p.Val1282=) c.3828G>C (p.Val1276=) | |
| 22 | g.50721682G>T | CA515263194 | SHANK3 | c.3450G>T (p.Val1150=) n.4034G>T c.2502G>T (p.Val834=) c.1992G>T (p.Val664=) c.*2448G>T (n.*2448G>T) c.3846G>T (p.Val1282=) c.3828G>T (p.Val1276=) | |
| 22 | g.50721683A= | CA2411008392 | SHANK3 | c.3451A= (p.Asn1151=) n.4035A= c.2503A= (p.Asn835=) c.1993A= (p.Asn665=) c.*2449A= (n.*2449A=) c.3847A= (p.Asn1283=) c.3829A= (p.Asn1277=) | |
| 22 | g.50721683A>C | CA515263197 | SHANK3 | c.3451A>C (p.Asn1151His) n.4035A>C c.2503A>C (p.Asn835His) c.1993A>C (p.Asn665His) c.*2449A>C (n.*2449A>C) c.3847A>C (p.Asn1283His) c.3829A>C (p.Asn1277His) | dbSNP |
| 22 | g.50721683A>G | CA515263198 | SHANK3 | c.3451A>G (p.Asn1151Asp) n.4035A>G c.2503A>G (p.Asn835Asp) c.1993A>G (p.Asn665Asp) c.*2449A>G (n.*2449A>G) c.3847A>G (p.Asn1283Asp) c.3829A>G (p.Asn1277Asp) | |
| 22 | g.50721683A>T | CA515263199 | SHANK3 | c.3451A>T (p.Asn1151Tyr) n.4035A>T c.2503A>T (p.Asn835Tyr) c.1993A>T (p.Asn665Tyr) c.*2449A>T (n.*2449A>T) c.3847A>T (p.Asn1283Tyr) c.3829A>T (p.Asn1277Tyr) | |
| 22 | g.50721684A= | CA2411008393 | SHANK3 | c.3452A= (p.Asn1151=) n.4036A= c.2504A= (p.Asn835=) c.1994A= (p.Asn665=) c.*2450A= (n.*2450A=) c.3848A= (p.Asn1283=) c.3830A= (p.Asn1277=) | |
| 22 | g.50721684A>C | CA515263200 | SHANK3 | c.3452A>C (p.Asn1151Thr) n.4036A>C c.2504A>C (p.Asn835Thr) c.1994A>C (p.Asn665Thr) c.*2450A>C (n.*2450A>C) c.3848A>C (p.Asn1283Thr) c.3830A>C (p.Asn1277Thr) | |
| 22 | g.50721684A>G | CA515263201 | SHANK3 | c.3452A>G (p.Asn1151Ser) n.4036A>G c.2504A>G (p.Asn835Ser) c.1994A>G (p.Asn665Ser) c.*2450A>G (n.*2450A>G) c.3848A>G (p.Asn1283Ser) c.3830A>G (p.Asn1277Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721684A>T | CA515263202 | SHANK3 | c.3452A>T (p.Asn1151Ile) n.4036A>T c.2504A>T (p.Asn835Ile) c.1994A>T (p.Asn665Ile) c.*2450A>T (n.*2450A>T) c.3848A>T (p.Asn1283Ile) c.3830A>T (p.Asn1277Ile) | |
| 22 | g.50721685C>A | CA515263203 | SHANK3 | c.3453C>A (p.Asn1151Lys) n.4037C>A c.2505C>A (p.Asn835Lys) c.1995C>A (p.Asn665Lys) c.*2451C>A (n.*2451C>A) c.3849C>A (p.Asn1283Lys) c.3831C>A (p.Asn1277Lys) | |
| 22 | g.50721685C= | CA2411008394 | SHANK3 | c.3453C= (p.Asn1151=) n.4037C= c.2505C= (p.Asn835=) c.1995C= (p.Asn665=) c.*2451C= (n.*2451C=) c.3849C= (p.Asn1283=) c.3831C= (p.Asn1277=) | |
| 22 | g.50721685C>G | CA515263204 | SHANK3 | c.3453C>G (p.Asn1151Lys) n.4037C>G c.2505C>G (p.Asn835Lys) c.1995C>G (p.Asn665Lys) c.*2451C>G (n.*2451C>G) c.3849C>G (p.Asn1283Lys) c.3831C>G (p.Asn1277Lys) | |
| 22 | g.50721685C>T | CA10326156 | SHANK3 | c.3453C>T (p.Asn1151=) n.4037C>T c.2505C>T (p.Asn835=) c.1995C>T (p.Asn665=) c.*2451C>T (n.*2451C>T) c.3849C>T (p.Asn1283=) c.3831C>T (p.Asn1277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721686C>A | CA515263205 | SHANK3 | c.3454C>A (p.Leu1152Met) n.4038C>A c.2506C>A (p.Leu836Met) c.1996C>A (p.Leu666Met) c.*2452C>A (n.*2452C>A) c.3850C>A (p.Leu1284Met) c.3832C>A (p.Leu1278Met) | |
| 22 | g.50721686C= | CA2411008395 | SHANK3 | c.3454C= (p.Leu1152=) n.4038C= c.2506C= (p.Leu836=) c.1996C= (p.Leu666=) c.*2452C= (n.*2452C=) c.3850C= (p.Leu1284=) c.3832C= (p.Leu1278=) | |
| 22 | g.50721686C>G | CA515263206 | SHANK3 | c.3454C>G (p.Leu1152Val) n.4038C>G c.2506C>G (p.Leu836Val) c.1996C>G (p.Leu666Val) c.*2452C>G (n.*2452C>G) c.3850C>G (p.Leu1284Val) c.3832C>G (p.Leu1278Val) | |
| 22 | g.50721686C>T | CA10326157 | SHANK3 | c.3454C>T (p.Leu1152=) n.4038C>T c.2506C>T (p.Leu836=) c.1996C>T (p.Leu666=) c.*2452C>T (n.*2452C>T) c.3850C>T (p.Leu1284=) c.3832C>T (p.Leu1278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721687T>A | CA515263209 | SHANK3 | c.3455T>A (p.Leu1152Gln) n.4039T>A c.2507T>A (p.Leu836Gln) c.1997T>A (p.Leu666Gln) c.*2453T>A (n.*2453T>A) c.3851T>A (p.Leu1284Gln) c.3833T>A (p.Leu1278Gln) | |
| 22 | g.50721687T>C | CA515263207 | SHANK3 | c.3455T>C (p.Leu1152Pro) n.4039T>C c.2507T>C (p.Leu836Pro) c.1997T>C (p.Leu666Pro) c.*2453T>C (n.*2453T>C) c.3851T>C (p.Leu1284Pro) c.3833T>C (p.Leu1278Pro) | |
| 22 | g.50721687T>G | CA515263208 | SHANK3 | c.3455T>G (p.Leu1152Arg) n.4039T>G c.2507T>G (p.Leu836Arg) c.1997T>G (p.Leu666Arg) c.*2453T>G (n.*2453T>G) c.3851T>G (p.Leu1284Arg) c.3833T>G (p.Leu1278Arg) | |
| 22 | g.50721688G>A | CA515263210 | SHANK3 | c.3456G>A (p.Leu1152=) n.4040G>A c.2508G>A (p.Leu836=) c.1998G>A (p.Leu666=) c.*2454G>A (n.*2454G>A) c.3852G>A (p.Leu1284=) c.3834G>A (p.Leu1278=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721688G>C | CA515263211 | SHANK3 | c.3456G>C (p.Leu1152=) n.4040G>C c.2508G>C (p.Leu836=) c.1998G>C (p.Leu666=) c.*2454G>C (n.*2454G>C) c.3852G>C (p.Leu1284=) c.3834G>C (p.Leu1278=) | dbSNP gnomAD v4 |
| 22 | g.50721688G= | CA2411008396 | SHANK3 | c.3456G= (p.Leu1152=) n.4040G= c.2508G= (p.Leu836=) c.1998G= (p.Leu666=) c.*2454G= (n.*2454G=) c.3852G= (p.Leu1284=) c.3834G= (p.Leu1278=) | |
| 22 | g.50721688G>T | CA515263212 | SHANK3 | c.3456G>T (p.Leu1152=) n.4040G>T c.2508G>T (p.Leu836=) c.1998G>T (p.Leu666=) c.*2454G>T (n.*2454G>T) c.3852G>T (p.Leu1284=) c.3834G>T (p.Leu1278=) | |
| 22 | g.50721689C>A | CA515263213 | SHANK3 | c.3457C>A (p.Pro1153Thr) n.4041C>A c.2509C>A (p.Pro837Thr) c.1999C>A (p.Pro667Thr) c.*2455C>A (n.*2455C>A) c.3853C>A (p.Pro1285Thr) c.3835C>A (p.Pro1279Thr) | |
| 22 | g.50721689C= | CA2411008397 | SHANK3 | c.3457C= (p.Pro1153=) n.4041C= c.2509C= (p.Pro837=) c.1999C= (p.Pro667=) c.*2455C= (n.*2455C=) c.3853C= (p.Pro1285=) c.3835C= (p.Pro1279=) | |
| 22 | g.50721689C>G | CA515263214 | SHANK3 | c.3457C>G (p.Pro1153Ala) n.4041C>G c.2509C>G (p.Pro837Ala) c.1999C>G (p.Pro667Ala) c.*2455C>G (n.*2455C>G) c.3853C>G (p.Pro1285Ala) c.3835C>G (p.Pro1279Ala) | |
| 22 | g.50721689C>T | CA515263215 | SHANK3 | c.3457C>T (p.Pro1153Ser) n.4041C>T c.2509C>T (p.Pro837Ser) c.1999C>T (p.Pro667Ser) c.*2455C>T (n.*2455C>T) c.3853C>T (p.Pro1285Ser) c.3835C>T (p.Pro1279Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721690C>A | CA515263218 | SHANK3 | c.3458C>A (p.Pro1153Gln) n.4042C>A c.2510C>A (p.Pro837Gln) c.2000C>A (p.Pro667Gln) c.*2456C>A (n.*2456C>A) c.3854C>A (p.Pro1285Gln) c.3836C>A (p.Pro1279Gln) | COSMIC COSMIC |
| 22 | g.50721690C= | CA2411008398 | SHANK3 | c.3458C= (p.Pro1153=) n.4042C= c.2510C= (p.Pro837=) c.2000C= (p.Pro667=) c.*2456C= (n.*2456C=) c.3854C= (p.Pro1285=) c.3836C= (p.Pro1279=) | |
| 22 | g.50721690C>G | CA515263217 | SHANK3 | c.3458C>G (p.Pro1153Arg) n.4042C>G c.2510C>G (p.Pro837Arg) c.2000C>G (p.Pro667Arg) c.*2456C>G (n.*2456C>G) c.3854C>G (p.Pro1285Arg) c.3836C>G (p.Pro1279Arg) | |
| 22 | g.50721690C>T | CA515263216 | SHANK3 | c.3458C>T (p.Pro1153Leu) n.4042C>T c.2510C>T (p.Pro837Leu) c.2000C>T (p.Pro667Leu) c.*2456C>T (n.*2456C>T) c.3854C>T (p.Pro1285Leu) c.3836C>T (p.Pro1279Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721691A= | CA2411008399 | SHANK3 | c.3459A= (p.Pro1153=) n.4043A= c.2511A= (p.Pro837=) c.2001A= (p.Pro667=) c.*2457A= (n.*2457A=) c.3855A= (p.Pro1285=) c.3837A= (p.Pro1279=) | |
| 22 | g.50721691A>C | CA515263219 | SHANK3 | c.3459A>C (p.Pro1153=) n.4043A>C c.2511A>C (p.Pro837=) c.2001A>C (p.Pro667=) c.*2457A>C (n.*2457A>C) c.3855A>C (p.Pro1285=) c.3837A>C (p.Pro1279=) | |
| 22 | g.50721691A>G | CA10326158 | SHANK3 | c.3459A>G (p.Pro1153=) n.4043A>G c.2511A>G (p.Pro837=) c.2001A>G (p.Pro667=) c.*2457A>G (n.*2457A>G) c.3855A>G (p.Pro1285=) c.3837A>G (p.Pro1279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721691A>T | CA515263220 | SHANK3 | c.3459A>T (p.Pro1153=) n.4043A>T c.2511A>T (p.Pro837=) c.2001A>T (p.Pro667=) c.*2457A>T (n.*2457A>T) c.3855A>T (p.Pro1285=) c.3837A>T (p.Pro1279=) | |
| 22 | g.50721692C>A | CA515263221 | SHANK3 | c.3460C>A (p.Pro1154Thr) n.4044C>A c.2512C>A (p.Pro838Thr) c.2002C>A (p.Pro668Thr) c.*2458C>A (n.*2458C>A) c.3856C>A (p.Pro1286Thr) c.3838C>A (p.Pro1280Thr) | |
| 22 | g.50721692C= | CA2411008400 | SHANK3 | c.3460C= (p.Pro1154=) n.4044C= c.2512C= (p.Pro838=) c.2002C= (p.Pro668=) c.*2458C= (n.*2458C=) c.3856C= (p.Pro1286=) c.3838C= (p.Pro1280=) | |
| 22 | g.50721692C>G | CA515263222 | SHANK3 | c.3460C>G (p.Pro1154Ala) n.4044C>G c.2512C>G (p.Pro838Ala) c.2002C>G (p.Pro668Ala) c.*2458C>G (n.*2458C>G) c.3856C>G (p.Pro1286Ala) c.3838C>G (p.Pro1280Ala) | gnomAD v4 |
| 22 | g.50721692C>T | CA515263223 | SHANK3 | c.3460C>T (p.Pro1154Ser) n.4044C>T c.2512C>T (p.Pro838Ser) c.2002C>T (p.Pro668Ser) c.*2458C>T (n.*2458C>T) c.3856C>T (p.Pro1286Ser) c.3838C>T (p.Pro1280Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721693C>A | CA515263224 | SHANK3 | c.3461C>A (p.Pro1154His) n.4045C>A c.2513C>A (p.Pro838His) c.2003C>A (p.Pro668His) c.*2459C>A (n.*2459C>A) c.3857C>A (p.Pro1286His) c.3839C>A (p.Pro1280His) | |
| 22 | g.50721693C= | CA2411008401 | SHANK3 | c.3461C= (p.Pro1154=) n.4045C= c.2513C= (p.Pro838=) c.2003C= (p.Pro668=) c.*2459C= (n.*2459C=) c.3857C= (p.Pro1286=) c.3839C= (p.Pro1280=) | |
| 22 | g.50721693C>G | CA515263226 | SHANK3 | c.3461C>G (p.Pro1154Arg) n.4045C>G c.2513C>G (p.Pro838Arg) c.2003C>G (p.Pro668Arg) c.*2459C>G (n.*2459C>G) c.3857C>G (p.Pro1286Arg) c.3839C>G (p.Pro1280Arg) | gnomAD v4 |
| 22 | g.50721693C>T | CA515263225 | SHANK3 | c.3461C>T (p.Pro1154Leu) n.4045C>T c.2513C>T (p.Pro838Leu) c.2003C>T (p.Pro668Leu) c.*2459C>T (n.*2459C>T) c.3857C>T (p.Pro1286Leu) c.3839C>T (p.Pro1280Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721694T>A | CA515263227 | SHANK3 | c.3462T>A (p.Pro1154=) n.4046T>A c.2514T>A (p.Pro838=) c.2004T>A (p.Pro668=) c.*2460T>A (n.*2460T>A) c.3858T>A (p.Pro1286=) c.3840T>A (p.Pro1280=) | |
| 22 | g.50721694T>C | CA515263228 | SHANK3 | c.3462T>C (p.Pro1154=) n.4046T>C c.2514T>C (p.Pro838=) c.2004T>C (p.Pro668=) c.*2460T>C (n.*2460T>C) c.3858T>C (p.Pro1286=) c.3840T>C (p.Pro1280=) | |
| 22 | g.50721694T>G | CA515263229 | SHANK3 | c.3462T>G (p.Pro1154=) n.4046T>G c.2514T>G (p.Pro838=) c.2004T>G (p.Pro668=) c.*2460T>G (n.*2460T>G) c.3858T>G (p.Pro1286=) c.3840T>G (p.Pro1280=) | |
| 22 | g.50721695G>A | CA10326159 | SHANK3 | c.3463G>A (p.Ala1155Thr) n.4047G>A c.2515G>A (p.Ala839Thr) c.2005G>A (p.Ala669Thr) c.*2461G>A (n.*2461G>A) c.3859G>A (p.Ala1287Thr) c.3841G>A (p.Ala1281Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721695G>C | CA515263230 | SHANK3 | c.3463G>C (p.Ala1155Pro) n.4047G>C c.2515G>C (p.Ala839Pro) c.2005G>C (p.Ala669Pro) c.*2461G>C (n.*2461G>C) c.3859G>C (p.Ala1287Pro) c.3841G>C (p.Ala1281Pro) | |
| 22 | g.50721695G= | CA2411008402 | SHANK3 | c.3463G= (p.Ala1155=) n.4047G= c.2515G= (p.Ala839=) c.2005G= (p.Ala669=) c.*2461G= (n.*2461G=) c.3859G= (p.Ala1287=) c.3841G= (p.Ala1281=) | |
| 22 | g.50721695G>T | CA515263231 | SHANK3 | c.3463G>T (p.Ala1155Ser) n.4047G>T c.2515G>T (p.Ala839Ser) c.2005G>T (p.Ala669Ser) c.*2461G>T (n.*2461G>T) c.3859G>T (p.Ala1287Ser) c.3841G>T (p.Ala1281Ser) | gnomAD v4 |
| 22 | g.50721696C>A | CA515263232 | SHANK3 | c.3464C>A (p.Ala1155Asp) n.4048C>A c.2516C>A (p.Ala839Asp) c.2006C>A (p.Ala669Asp) c.*2462C>A (n.*2462C>A) c.3860C>A (p.Ala1287Asp) c.3842C>A (p.Ala1281Asp) | |
| 22 | g.50721696C= | CA2411008403 | SHANK3 | c.3464C= (p.Ala1155=) n.4048C= c.2516C= (p.Ala839=) c.2006C= (p.Ala669=) c.*2462C= (n.*2462C=) c.3860C= (p.Ala1287=) c.3842C= (p.Ala1281=) | |
| 22 | g.50721696C>G | CA515263233 | SHANK3 | c.3464C>G (p.Ala1155Gly) n.4048C>G c.2516C>G (p.Ala839Gly) c.2006C>G (p.Ala669Gly) c.*2462C>G (n.*2462C>G) c.3860C>G (p.Ala1287Gly) c.3842C>G (p.Ala1281Gly) | |
| 22 | g.50721696C>T | CA10326160 | SHANK3 | c.3464C>T (p.Ala1155Val) n.4048C>T c.2516C>T (p.Ala839Val) c.2006C>T (p.Ala669Val) c.*2462C>T (n.*2462C>T) c.3860C>T (p.Ala1287Val) c.3842C>T (p.Ala1281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721697C>A | CA515263234 | SHANK3 | c.3465C>A (p.Ala1155=) n.4049C>A c.2517C>A (p.Ala839=) c.2007C>A (p.Ala669=) c.*2463C>A (n.*2463C>A) c.3861C>A (p.Ala1287=) c.3843C>A (p.Ala1281=) | |
| 22 | g.50721697C= | CA2411008404 | SHANK3 | c.3465C= (p.Ala1155=) n.4049C= c.2517C= (p.Ala839=) c.2007C= (p.Ala669=) c.*2463C= (n.*2463C=) c.3861C= (p.Ala1287=) c.3843C= (p.Ala1281=) | |
| 22 | g.50721697C>G | CA515263235 | SHANK3 | c.3465C>G (p.Ala1155=) n.4049C>G c.2517C>G (p.Ala839=) c.2007C>G (p.Ala669=) c.*2463C>G (n.*2463C>G) c.3861C>G (p.Ala1287=) c.3843C>G (p.Ala1281=) | dbSNP gnomAD v4 |
| 22 | g.50721697C>T | CA10326161 | SHANK3 | c.3465C>T (p.Ala1155=) n.4049C>T c.2517C>T (p.Ala839=) c.2007C>T (p.Ala669=) c.*2463C>T (n.*2463C>T) c.3861C>T (p.Ala1287=) c.3843C>T (p.Ala1281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |