| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721544_50721564dup | CA2657581051 | SHANK3 | c.3312_3332dup (p.Ser1111_Ala1112insAlaProAlaProMetGlnSer) n.3896_3916dup c.2364_2384dup (p.Ser795_Ala796insAlaProAlaProMetGlnSer) c.1854_1874dup (p.Ser625_Ala626insAlaProAlaProMetGlnSer) c.*2310_*2330dup (n.*2310_*2330dup) c.3708_3728dup (p.Ser1243_Ala1244insAlaProAlaProMetGlnSer) c.3690_3710dup (p.Ser1237_Ala1238insAlaProAlaProMetGlnSer) | gnomAD v4 |
| 22 | g.50721555_50721567del | CA2573055036 | SHANK3 | c.3323_3335del (p.Pro1108ArgfsTer?) n.3907_3919del c.2375_2387del (p.Pro792ArgfsTer?) c.1865_1877del (p.Pro622ArgfsTer?) c.*2321_*2333del (n.*2321_*2333del) c.3719_3731del (p.Pro1240ArgfsTer?) c.3701_3713del (p.Pro1234ArgfsTer?) | dbSNP |
| 22 | g.50721560_50721572del | CA2573158315 | SHANK3 | c.3328_3340del (p.Gln1110TrpfsTer?) n.3912_3924del c.2380_2392del (p.Gln794TrpfsTer?) c.1870_1882del (p.Gln624TrpfsTer?) c.*2326_*2338del (n.*2326_*2338del) c.3724_3736del (p.Gln1242TrpfsTer?) c.3706_3718del (p.Gln1236TrpfsTer?) | ClinVar dbSNP |
| 22 | g.50721562G>A | CA515262863 | SHANK3 | c.3330G>A (p.Gln1110=) n.3914G>A c.2382G>A (p.Gln794=) c.1872G>A (p.Gln624=) c.*2328G>A (n.*2328G>A) c.3726G>A (p.Gln1242=) c.3708G>A (p.Gln1236=) | gnomAD v4 |
| 22 | g.50721562G>C | CA515262865 | SHANK3 | c.3330G>C (p.Gln1110His) n.3914G>C c.2382G>C (p.Gln794His) c.1872G>C (p.Gln624His) c.*2328G>C (n.*2328G>C) c.3726G>C (p.Gln1242His) c.3708G>C (p.Gln1236His) | |
| 22 | g.50721562G>T | CA515262866 | SHANK3 | c.3330G>T (p.Gln1110His) n.3914G>T c.2382G>T (p.Gln794His) c.1872G>T (p.Gln624His) c.*2328G>T (n.*2328G>T) c.3726G>T (p.Gln1242His) c.3708G>T (p.Gln1236His) | |
| 22 | g.50721563T>A | CA515262867 | SHANK3 | c.3331T>A (p.Ser1111Thr) n.3915T>A c.2383T>A (p.Ser795Thr) c.1873T>A (p.Ser625Thr) c.*2329T>A (n.*2329T>A) c.3727T>A (p.Ser1243Thr) c.3709T>A (p.Ser1237Thr) | |
| 22 | g.50721563T>C | CA515262868 | SHANK3 | c.3331T>C (p.Ser1111Pro) n.3915T>C c.2383T>C (p.Ser795Pro) c.1873T>C (p.Ser625Pro) c.*2329T>C (n.*2329T>C) c.3727T>C (p.Ser1243Pro) c.3709T>C (p.Ser1237Pro) | gnomAD v4 |
| 22 | g.50721563T>G | CA515262869 | SHANK3 | c.3331T>G (p.Ser1111Ala) n.3915T>G c.2383T>G (p.Ser795Ala) c.1873T>G (p.Ser625Ala) c.*2329T>G (n.*2329T>G) c.3727T>G (p.Ser1243Ala) c.3709T>G (p.Ser1237Ala) | gnomAD v4 |
| 22 | g.50721564C>A | CA515262870 | SHANK3 | c.3332C>A (p.Ser1111Ter) n.3916C>A c.2384C>A (p.Ser795Ter) c.1874C>A (p.Ser625Ter) c.*2330C>A (n.*2330C>A) c.3728C>A (p.Ser1243Ter) c.3710C>A (p.Ser1237Ter) | |
| 22 | g.50721564C= | CA2411008327 | SHANK3 | c.3332C= (p.Ser1111=) n.3916C= c.2384C= (p.Ser795=) c.1874C= (p.Ser625=) c.*2330C= (n.*2330C=) c.3728C= (p.Ser1243=) c.3710C= (p.Ser1237=) | |
| 22 | g.50721564C>G | CA515262871 | SHANK3 | c.3332C>G (p.Ser1111Ter) n.3916C>G c.2384C>G (p.Ser795Ter) c.1874C>G (p.Ser625Ter) c.*2330C>G (n.*2330C>G) c.3728C>G (p.Ser1243Ter) c.3710C>G (p.Ser1237Ter) | |
| 22 | g.50721564C>T | CA515262872 | SHANK3 | c.3332C>T (p.Ser1111Leu) n.3916C>T c.2384C>T (p.Ser795Leu) c.1874C>T (p.Ser625Leu) c.*2330C>T (n.*2330C>T) c.3728C>T (p.Ser1243Leu) c.3710C>T (p.Ser1237Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721565A>C | CA515262873 | SHANK3 | c.3333A>C (p.Ser1111=) n.3917A>C c.2385A>C (p.Ser795=) c.1875A>C (p.Ser625=) c.*2331A>C (n.*2331A>C) c.3729A>C (p.Ser1243=) c.3711A>C (p.Ser1237=) | |
| 22 | g.50721565A>G | CA515262874 | SHANK3 | c.3333A>G (p.Ser1111=) n.3917A>G c.2385A>G (p.Ser795=) c.1875A>G (p.Ser625=) c.*2331A>G (n.*2331A>G) c.3729A>G (p.Ser1243=) c.3711A>G (p.Ser1237=) | |
| 22 | g.50721565A>T | CA515262875 | SHANK3 | c.3333A>T (p.Ser1111=) n.3917A>T c.2385A>T (p.Ser795=) c.1875A>T (p.Ser625=) c.*2331A>T (n.*2331A>T) c.3729A>T (p.Ser1243=) c.3711A>T (p.Ser1237=) | |
| 22 | g.50721566G>A | CA515262879 | SHANK3 | c.3334G>A (p.Ala1112Thr) n.3918G>A c.2386G>A (p.Ala796Thr) c.1876G>A (p.Ala626Thr) c.*2332G>A (n.*2332G>A) c.3730G>A (p.Ala1244Thr) c.3712G>A (p.Ala1238Thr) | |
| 22 | g.50721566G>C | CA515262876 | SHANK3 | c.3334G>C (p.Ala1112Pro) n.3918G>C c.2386G>C (p.Ala796Pro) c.1876G>C (p.Ala626Pro) c.*2332G>C (n.*2332G>C) c.3730G>C (p.Ala1244Pro) c.3712G>C (p.Ala1238Pro) | |
| 22 | g.50721566G>T | CA515262878 | SHANK3 | c.3334G>T (p.Ala1112Ser) n.3918G>T c.2386G>T (p.Ala796Ser) c.1876G>T (p.Ala626Ser) c.*2332G>T (n.*2332G>T) c.3730G>T (p.Ala1244Ser) c.3712G>T (p.Ala1238Ser) | |
| 22 | g.50721567C>A | CA515262880 | SHANK3 | c.3335C>A (p.Ala1112Glu) n.3919C>A c.2387C>A (p.Ala796Glu) c.1877C>A (p.Ala626Glu) c.*2333C>A (n.*2333C>A) c.3731C>A (p.Ala1244Glu) c.3713C>A (p.Ala1238Glu) | |
| 22 | g.50721567C= | CA2411008328 | SHANK3 | c.3335C= (p.Ala1112=) n.3919C= c.2387C= (p.Ala796=) c.1877C= (p.Ala626=) c.*2333C= (n.*2333C=) c.3731C= (p.Ala1244=) c.3713C= (p.Ala1238=) | |
| 22 | g.50721567C>G | CA515262881 | SHANK3 | c.3335C>G (p.Ala1112Gly) n.3919C>G c.2387C>G (p.Ala796Gly) c.1877C>G (p.Ala626Gly) c.*2333C>G (n.*2333C>G) c.3731C>G (p.Ala1244Gly) c.3713C>G (p.Ala1238Gly) | dbSNP gnomAD v4 |
| 22 | g.50721567C>T | CA10326119 | SHANK3 | c.3335C>T (p.Ala1112Val) n.3919C>T c.2387C>T (p.Ala796Val) c.1877C>T (p.Ala626Val) c.*2333C>T (n.*2333C>T) c.3731C>T (p.Ala1244Val) c.3713C>T (p.Ala1238Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721568G>A | CA10326120 | SHANK3 | c.3336G>A (p.Ala1112=) n.3920G>A c.2388G>A (p.Ala796=) c.1878G>A (p.Ala626=) c.*2334G>A (n.*2334G>A) c.3732G>A (p.Ala1244=) c.3714G>A (p.Ala1238=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721568G>C | CA515262882 | SHANK3 | c.3336G>C (p.Ala1112=) n.3920G>C c.2388G>C (p.Ala796=) c.1878G>C (p.Ala626=) c.*2334G>C (n.*2334G>C) c.3732G>C (p.Ala1244=) c.3714G>C (p.Ala1238=) | |
| 22 | g.50721568G= | CA2411008329 | SHANK3 | c.3336G= (p.Ala1112=) n.3920G= c.2388G= (p.Ala796=) c.1878G= (p.Ala626=) c.*2334G= (n.*2334G=) c.3732G= (p.Ala1244=) c.3714G= (p.Ala1238=) | |
| 22 | g.50721568G>T | CA515262883 | SHANK3 | c.3336G>T (p.Ala1112=) n.3920G>T c.2388G>T (p.Ala796=) c.1878G>T (p.Ala626=) c.*2334G>T (n.*2334G>T) c.3732G>T (p.Ala1244=) c.3714G>T (p.Ala1238=) | |
| 22 | g.50721569G>A | CA515262884 | SHANK3 | c.3337G>A (p.Ala1113Thr) n.3921G>A c.2389G>A (p.Ala797Thr) c.1879G>A (p.Ala627Thr) c.*2335G>A (n.*2335G>A) c.3733G>A (p.Ala1245Thr) c.3715G>A (p.Ala1239Thr) | dbSNP gnomAD v2 |
| 22 | g.50721569G>C | CA515262886 | SHANK3 | c.3337G>C (p.Ala1113Pro) n.3921G>C c.2389G>C (p.Ala797Pro) c.1879G>C (p.Ala627Pro) c.*2335G>C (n.*2335G>C) c.3733G>C (p.Ala1245Pro) c.3715G>C (p.Ala1239Pro) | |
| 22 | g.50721569G= | CA2411008330 | SHANK3 | c.3337G= (p.Ala1113=) n.3921G= c.2389G= (p.Ala797=) c.1879G= (p.Ala627=) c.*2335G= (n.*2335G=) c.3733G= (p.Ala1245=) c.3715G= (p.Ala1239=) | |
| 22 | g.50721569G>T | CA515262888 | SHANK3 | c.3337G>T (p.Ala1113Ser) n.3921G>T c.2389G>T (p.Ala797Ser) c.1879G>T (p.Ala627Ser) c.*2335G>T (n.*2335G>T) c.3733G>T (p.Ala1245Ser) c.3715G>T (p.Ala1239Ser) | |
| 22 | g.50721570C>A | CA515262890 | SHANK3 | c.3338C>A (p.Ala1113Asp) n.3922C>A c.2390C>A (p.Ala797Asp) c.1880C>A (p.Ala627Asp) c.*2336C>A (n.*2336C>A) c.3734C>A (p.Ala1245Asp) c.3716C>A (p.Ala1239Asp) | |
| 22 | g.50721570C>G | CA515262891 | SHANK3 | c.3338C>G (p.Ala1113Gly) n.3922C>G c.2390C>G (p.Ala797Gly) c.1880C>G (p.Ala627Gly) c.*2336C>G (n.*2336C>G) c.3734C>G (p.Ala1245Gly) c.3716C>G (p.Ala1239Gly) | |
| 22 | g.50721570C>T | CA515262892 | SHANK3 | c.3338C>T (p.Ala1113Val) n.3922C>T c.2390C>T (p.Ala797Val) c.1880C>T (p.Ala627Val) c.*2336C>T (n.*2336C>T) c.3734C>T (p.Ala1245Val) c.3716C>T (p.Ala1239Val) | |
| 22 | g.50721571T>A | CA515262895 | SHANK3 | c.3339T>A (p.Ala1113=) n.3923T>A c.2391T>A (p.Ala797=) c.1881T>A (p.Ala627=) c.*2337T>A (n.*2337T>A) c.3735T>A (p.Ala1245=) c.3717T>A (p.Ala1239=) | |
| 22 | g.50721571T>C | CA515262894 | SHANK3 | c.3339T>C (p.Ala1113=) n.3923T>C c.2391T>C (p.Ala797=) c.1881T>C (p.Ala627=) c.*2337T>C (n.*2337T>C) c.3735T>C (p.Ala1245=) c.3717T>C (p.Ala1239=) | |
| 22 | g.50721571T>G | CA515262893 | SHANK3 | c.3339T>G (p.Ala1113=) n.3923T>G c.2391T>G (p.Ala797=) c.1881T>G (p.Ala627=) c.*2337T>G (n.*2337T>G) c.3735T>G (p.Ala1245=) c.3717T>G (p.Ala1239=) | |
| 22 | g.50721572G>A | CA515262898 | SHANK3 | c.3340G>A (p.Val1114Met) n.3924G>A c.2392G>A (p.Val798Met) c.1882G>A (p.Val628Met) c.*2338G>A (n.*2338G>A) c.3736G>A (p.Val1246Met) c.3718G>A (p.Val1240Met) | gnomAD v4 |
| 22 | g.50721572G>C | CA515262896 | SHANK3 | c.3340G>C (p.Val1114Leu) n.3924G>C c.2392G>C (p.Val798Leu) c.1882G>C (p.Val628Leu) c.*2338G>C (n.*2338G>C) c.3736G>C (p.Val1246Leu) c.3718G>C (p.Val1240Leu) | |
| 22 | g.50721572G>T | CA515262897 | SHANK3 | c.3340G>T (p.Val1114Leu) n.3924G>T c.2392G>T (p.Val798Leu) c.1882G>T (p.Val628Leu) c.*2338G>T (n.*2338G>T) c.3736G>T (p.Val1246Leu) c.3718G>T (p.Val1240Leu) | |
| 22 | g.50721573T>A | CA515262899 | SHANK3 | c.3341T>A (p.Val1114Glu) n.3925T>A c.2393T>A (p.Val798Glu) c.1883T>A (p.Val628Glu) c.*2339T>A (n.*2339T>A) c.3737T>A (p.Val1246Glu) c.3719T>A (p.Val1240Glu) | |
| 22 | g.50721573T>C | CA515262901 | SHANK3 | c.3341T>C (p.Val1114Ala) n.3925T>C c.2393T>C (p.Val798Ala) c.1883T>C (p.Val628Ala) c.*2339T>C (n.*2339T>C) c.3737T>C (p.Val1246Ala) c.3719T>C (p.Val1240Ala) | gnomAD v4 |
| 22 | g.50721573T>G | CA515262903 | SHANK3 | c.3341T>G (p.Val1114Gly) n.3925T>G c.2393T>G (p.Val798Gly) c.1883T>G (p.Val628Gly) c.*2339T>G (n.*2339T>G) c.3737T>G (p.Val1246Gly) c.3719T>G (p.Val1240Gly) | |
| 22 | g.50721574G>A | CA515262907 | SHANK3 | c.3342G>A (p.Val1114=) n.3926G>A c.2394G>A (p.Val798=) c.1884G>A (p.Val628=) c.*2340G>A (n.*2340G>A) c.3738G>A (p.Val1246=) c.3720G>A (p.Val1240=) | gnomAD v4 |
| 22 | g.50721574G>C | CA515262906 | SHANK3 | c.3342G>C (p.Val1114=) n.3926G>C c.2394G>C (p.Val798=) c.1884G>C (p.Val628=) c.*2340G>C (n.*2340G>C) c.3738G>C (p.Val1246=) c.3720G>C (p.Val1240=) | |
| 22 | g.50721574G>T | CA515262905 | SHANK3 | c.3342G>T (p.Val1114=) n.3926G>T c.2394G>T (p.Val798=) c.1884G>T (p.Val628=) c.*2340G>T (n.*2340G>T) c.3738G>T (p.Val1246=) c.3720G>T (p.Val1240=) | gnomAD v4 |
| 22 | g.50721575G>A | CA515262908 | SHANK3 | c.3343G>A (p.Ala1115Thr) n.3927G>A c.2395G>A (p.Ala799Thr) c.1885G>A (p.Ala629Thr) c.*2341G>A (n.*2341G>A) c.3739G>A (p.Ala1247Thr) c.3721G>A (p.Ala1241Thr) | gnomAD v4 |
| 22 | g.50721575G>C | CA515262909 | SHANK3 | c.3343G>C (p.Ala1115Pro) n.3927G>C c.2395G>C (p.Ala799Pro) c.1885G>C (p.Ala629Pro) c.*2341G>C (n.*2341G>C) c.3739G>C (p.Ala1247Pro) c.3721G>C (p.Ala1241Pro) | |
| 22 | g.50721575G>T | CA515262910 | SHANK3 | c.3343G>T (p.Ala1115Ser) n.3927G>T c.2395G>T (p.Ala799Ser) c.1885G>T (p.Ala629Ser) c.*2341G>T (n.*2341G>T) c.3739G>T (p.Ala1247Ser) c.3721G>T (p.Ala1241Ser) | gnomAD v4 |
| 22 | g.50721576C>A | CA515262911 | SHANK3 | c.3344C>A (p.Ala1115Glu) n.3928C>A c.2396C>A (p.Ala799Glu) c.1886C>A (p.Ala629Glu) c.*2342C>A (n.*2342C>A) c.3740C>A (p.Ala1247Glu) c.3722C>A (p.Ala1241Glu) | gnomAD v4 |
| 22 | g.50721576C>G | CA515262912 | SHANK3 | c.3344C>G (p.Ala1115Gly) n.3928C>G c.2396C>G (p.Ala799Gly) c.1886C>G (p.Ala629Gly) c.*2342C>G (n.*2342C>G) c.3740C>G (p.Ala1247Gly) c.3722C>G (p.Ala1241Gly) | |
| 22 | g.50721576C>T | CA515262913 | SHANK3 | c.3344C>T (p.Ala1115Val) n.3928C>T c.2396C>T (p.Ala799Val) c.1886C>T (p.Ala629Val) c.*2342C>T (n.*2342C>T) c.3740C>T (p.Ala1247Val) c.3722C>T (p.Ala1241Val) | |
| 22 | g.50721577A>C | CA515262914 | SHANK3 | c.3345A>C (p.Ala1115=) n.3929A>C c.2397A>C (p.Ala799=) c.1887A>C (p.Ala629=) c.*2343A>C (n.*2343A>C) c.3741A>C (p.Ala1247=) c.3723A>C (p.Ala1241=) | |
| 22 | g.50721577A>G | CA515262916 | SHANK3 | c.3345A>G (p.Ala1115=) n.3929A>G c.2397A>G (p.Ala799=) c.1887A>G (p.Ala629=) c.*2343A>G (n.*2343A>G) c.3741A>G (p.Ala1247=) c.3723A>G (p.Ala1241=) | |
| 22 | g.50721577A>T | CA515262915 | SHANK3 | c.3345A>T (p.Ala1115=) n.3929A>T c.2397A>T (p.Ala799=) c.1887A>T (p.Ala629=) c.*2343A>T (n.*2343A>T) c.3741A>T (p.Ala1247=) c.3723A>T (p.Ala1241=) | |
| 22 | g.50721578G>A | CA10326121 | SHANK3 | c.3346G>A (p.Glu1116Lys) n.3930G>A c.2398G>A (p.Glu800Lys) c.1888G>A (p.Glu630Lys) c.*2344G>A (n.*2344G>A) c.3742G>A (p.Glu1248Lys) c.3724G>A (p.Glu1242Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721578G>C | CA515262917 | SHANK3 | c.3346G>C (p.Glu1116Gln) n.3930G>C c.2398G>C (p.Glu800Gln) c.1888G>C (p.Glu630Gln) c.*2344G>C (n.*2344G>C) c.3742G>C (p.Glu1248Gln) c.3724G>C (p.Glu1242Gln) | |
| 22 | g.50721578G= | CA2411008331 | SHANK3 | c.3346G= (p.Glu1116=) n.3930G= c.2398G= (p.Glu800=) c.1888G= (p.Glu630=) c.*2344G= (n.*2344G=) c.3742G= (p.Glu1248=) c.3724G= (p.Glu1242=) | |
| 22 | g.50721578G>T | CA515262918 | SHANK3 | c.3346G>T (p.Glu1116Ter) n.3930G>T c.2398G>T (p.Glu800Ter) c.1888G>T (p.Glu630Ter) c.*2344G>T (n.*2344G>T) c.3742G>T (p.Glu1248Ter) c.3724G>T (p.Glu1242Ter) | |
| 22 | g.50721579A= | CA2411008332 | SHANK3 | c.3347A= (p.Glu1116=) n.3931A= c.2399A= (p.Glu800=) c.1889A= (p.Glu630=) c.*2345A= (n.*2345A=) c.3743A= (p.Glu1248=) c.3725A= (p.Glu1242=) | |
| 22 | g.50721579A>C | CA515262919 | SHANK3 | c.3347A>C (p.Glu1116Ala) n.3931A>C c.2399A>C (p.Glu800Ala) c.1889A>C (p.Glu630Ala) c.*2345A>C (n.*2345A>C) c.3743A>C (p.Glu1248Ala) c.3725A>C (p.Glu1242Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721579A>G | CA515262920 | SHANK3 | c.3347A>G (p.Glu1116Gly) n.3931A>G c.2399A>G (p.Glu800Gly) c.1889A>G (p.Glu630Gly) c.*2345A>G (n.*2345A>G) c.3743A>G (p.Glu1248Gly) c.3725A>G (p.Glu1242Gly) | |
| 22 | g.50721579A>T | CA515262921 | SHANK3 | c.3347A>T (p.Glu1116Val) n.3931A>T c.2399A>T (p.Glu800Val) c.1889A>T (p.Glu630Val) c.*2345A>T (n.*2345A>T) c.3743A>T (p.Glu1248Val) c.3725A>T (p.Glu1242Val) | |
| 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.50721580G>A | CA10326122 | SHANK3 | c.3348G>A (p.Glu1116=) n.3932G>A c.2400G>A (p.Glu800=) c.1890G>A (p.Glu630=) c.*2346G>A (n.*2346G>A) c.3744G>A (p.Glu1248=) c.3726G>A (p.Glu1242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721580G>C | CA515262922 | SHANK3 | c.3348G>C (p.Glu1116Asp) n.3932G>C c.2400G>C (p.Glu800Asp) c.1890G>C (p.Glu630Asp) c.*2346G>C (n.*2346G>C) c.3744G>C (p.Glu1248Asp) c.3726G>C (p.Glu1242Asp) | |
| 22 | g.50721580G= | CA2411008333 | SHANK3 | c.3348G= (p.Glu1116=) n.3932G= c.2400G= (p.Glu800=) c.1890G= (p.Glu630=) c.*2346G= (n.*2346G=) c.3744G= (p.Glu1248=) c.3726G= (p.Glu1242=) | |
| 22 | g.50721580G>T | CA515262923 | SHANK3 | c.3348G>T (p.Glu1116Asp) n.3932G>T c.2400G>T (p.Glu800Asp) c.1890G>T (p.Glu630Asp) c.*2346G>T (n.*2346G>T) c.3744G>T (p.Glu1248Asp) c.3726G>T (p.Glu1242Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721580_50721593delinsGCCCCTGCCCAGCC | CA2411008334 | SHANK3 | c.3348_3361delinsGCCCCTGCCCAGCC (p.Glu1116=) n.3932_3945delinsGCCCCTGCCCAGCC c.2400_2413delinsGCCCCTGCCCAGCC (p.Glu800=) c.1890_1903delinsGCCCCTGCCCAGCC (p.Glu630=) c.*2346_*2359delinsGCCCCTGCCCAGCC (n.*2346_*2359delinsGCCCCTGCCCAGCC) c.3744_3757delinsGCCCCTGCCCAGCC (p.Glu1248=) c.3726_3739delinsGCCCCTGCCCAGCC (p.Glu1242=) | |
| 22 | g.50721581C>A | CA515262924 | SHANK3 | c.3349C>A (p.Pro1117Thr) n.3933C>A c.2401C>A (p.Pro801Thr) c.1891C>A (p.Pro631Thr) c.*2347C>A (n.*2347C>A) c.3745C>A (p.Pro1249Thr) c.3727C>A (p.Pro1243Thr) | gnomAD v4 |
| 22 | g.50721581C>G | CA515262925 | SHANK3 | c.3349C>G (p.Pro1117Ala) n.3933C>G c.2401C>G (p.Pro801Ala) c.1891C>G (p.Pro631Ala) c.*2347C>G (n.*2347C>G) c.3745C>G (p.Pro1249Ala) c.3727C>G (p.Pro1243Ala) | |
| 22 | g.50721581C>T | CA515262926 | SHANK3 | c.3349C>T (p.Pro1117Ser) n.3933C>T c.2401C>T (p.Pro801Ser) c.1891C>T (p.Pro631Ser) c.*2347C>T (n.*2347C>T) c.3745C>T (p.Pro1249Ser) c.3727C>T (p.Pro1243Ser) | gnomAD v4 |
| 22 | g.50721585_50721596del | CA2577768683 | SHANK3 | c.3353_3364del (p.Leu1118_Pro1121del) n.3937_3948del c.2405_2416del (p.Leu802_Pro805del) c.1895_1906del (p.Leu632_Pro635del) c.*2351_*2362del (n.*2351_*2362del) c.3749_3760del (p.Leu1250_Pro1253del) c.3731_3742del (p.Leu1244_Pro1247del) | |
| 22 | g.50721584_50721596del | CA658658927 | SHANK3 | c.3352_3364del (p.Leu1118GlyfsTer29) n.3936_3948del c.2404_2416del (p.Leu802GlyfsTer29) c.1894_1906del (p.Leu632GlyfsTer29) c.*2350_*2362del (n.*2350_*2362del) c.3748_3760del (p.Leu1250GlyfsTer29) c.3730_3742del (p.Leu1244GlyfsTer29) | ClinVar dbSNP |
| 22 | g.50721582C>A | CA515262928 | SHANK3 | c.3350C>A (p.Pro1117His) n.3934C>A c.2402C>A (p.Pro801His) c.1892C>A (p.Pro631His) c.*2348C>A (n.*2348C>A) c.3746C>A (p.Pro1249His) c.3728C>A (p.Pro1243His) | |
| 22 | g.50721582C= | CA2411008335 | SHANK3 | c.3350C= (p.Pro1117=) n.3934C= c.2402C= (p.Pro801=) c.1892C= (p.Pro631=) c.*2348C= (n.*2348C=) c.3746C= (p.Pro1249=) c.3728C= (p.Pro1243=) | |
| 22 | g.50721582C>G | CA515262929 | SHANK3 | c.3350C>G (p.Pro1117Arg) n.3934C>G c.2402C>G (p.Pro801Arg) c.1892C>G (p.Pro631Arg) c.*2348C>G (n.*2348C>G) c.3746C>G (p.Pro1249Arg) c.3728C>G (p.Pro1243Arg) | |
| 22 | g.50721582C>T | CA515262927 | SHANK3 | c.3350C>T (p.Pro1117Leu) n.3934C>T c.2402C>T (p.Pro801Leu) c.1892C>T (p.Pro631Leu) c.*2348C>T (n.*2348C>T) c.3746C>T (p.Pro1249Leu) c.3728C>T (p.Pro1243Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721583C>A | CA515262930 | SHANK3 | c.3351C>A (p.Pro1117=) n.3935C>A c.2403C>A (p.Pro801=) c.1893C>A (p.Pro631=) c.*2349C>A (n.*2349C>A) c.3747C>A (p.Pro1249=) c.3729C>A (p.Pro1243=) | gnomAD v4 |
| 22 | g.50721583C= | CA2411008336 | SHANK3 | c.3351C= (p.Pro1117=) n.3935C= c.2403C= (p.Pro801=) c.1893C= (p.Pro631=) c.*2349C= (n.*2349C=) c.3747C= (p.Pro1249=) c.3729C= (p.Pro1243=) | |
| 22 | g.50721583C>G | CA515262932 | SHANK3 | c.3351C>G (p.Pro1117=) n.3935C>G c.2403C>G (p.Pro801=) c.1893C>G (p.Pro631=) c.*2349C>G (n.*2349C>G) c.3747C>G (p.Pro1249=) c.3729C>G (p.Pro1243=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721583C>T | CA515262931 | SHANK3 | c.3351C>T (p.Pro1117=) n.3935C>T c.2403C>T (p.Pro801=) c.1893C>T (p.Pro631=) c.*2349C>T (n.*2349C>T) c.3747C>T (p.Pro1249=) c.3729C>T (p.Pro1243=) | dbSNP gnomAD v4 |
| 22 | g.50721584C>A | CA515262933 | SHANK3 | c.3352C>A (p.Leu1118Met) n.3936C>A c.2404C>A (p.Leu802Met) c.1894C>A (p.Leu632Met) c.*2350C>A (n.*2350C>A) c.3748C>A (p.Leu1250Met) c.3730C>A (p.Leu1244Met) | gnomAD v4 |
| 22 | g.50721584C= | CA2411008337 | SHANK3 | c.3352C= (p.Leu1118=) n.3936C= c.2404C= (p.Leu802=) c.1894C= (p.Leu632=) c.*2350C= (n.*2350C=) c.3748C= (p.Leu1250=) c.3730C= (p.Leu1244=) | |
| 22 | g.50721584C>G | CA515262934 | SHANK3 | c.3352C>G (p.Leu1118Val) n.3936C>G c.2404C>G (p.Leu802Val) c.1894C>G (p.Leu632Val) c.*2350C>G (n.*2350C>G) c.3748C>G (p.Leu1250Val) c.3730C>G (p.Leu1244Val) | |
| 22 | g.50721584C>T | CA515262935 | SHANK3 | c.3352C>T (p.Leu1118=) n.3936C>T c.2404C>T (p.Leu802=) c.1894C>T (p.Leu632=) c.*2350C>T (n.*2350C>T) c.3748C>T (p.Leu1250=) c.3730C>T (p.Leu1244=) | dbSNP gnomAD v2 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.50721585T>A | CA515262936 | SHANK3 | c.3353T>A (p.Leu1118Gln) n.3937T>A c.2405T>A (p.Leu802Gln) c.1895T>A (p.Leu632Gln) c.*2351T>A (n.*2351T>A) c.3749T>A (p.Leu1250Gln) c.3731T>A (p.Leu1244Gln) | |
| 22 | g.50721585T>C | CA515262937 | SHANK3 | c.3353T>C (p.Leu1118Pro) n.3937T>C c.2405T>C (p.Leu802Pro) c.1895T>C (p.Leu632Pro) c.*2351T>C (n.*2351T>C) c.3749T>C (p.Leu1250Pro) c.3731T>C (p.Leu1244Pro) | gnomAD v4 |
| 22 | g.50721585T>G | CA515262938 | SHANK3 | c.3353T>G (p.Leu1118Arg) n.3937T>G c.2405T>G (p.Leu802Arg) c.1895T>G (p.Leu632Arg) c.*2351T>G (n.*2351T>G) c.3749T>G (p.Leu1250Arg) c.3731T>G (p.Leu1244Arg) | gnomAD v4 |
| 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.50721586G>A | CA515262939 | SHANK3 | c.3354G>A (p.Leu1118=) n.3938G>A c.2406G>A (p.Leu802=) c.1896G>A (p.Leu632=) c.*2352G>A (n.*2352G>A) c.3750G>A (p.Leu1250=) c.3732G>A (p.Leu1244=) | dbSNP |
| 22 | g.50721586G>C | CA325579435 | SHANK3 | c.3354G>C (p.Leu1118=) n.3938G>C c.2406G>C (p.Leu802=) c.1896G>C (p.Leu632=) c.*2352G>C (n.*2352G>C) c.3750G>C (p.Leu1250=) c.3732G>C (p.Leu1244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721586G= | CA2411008340 | SHANK3 | c.3354G= (p.Leu1118=) n.3938G= c.2406G= (p.Leu802=) c.1896G= (p.Leu632=) c.*2352G= (n.*2352G=) c.3750G= (p.Leu1250=) c.3732G= (p.Leu1244=) | |
| 22 | g.50721586G>T | CA515262940 | SHANK3 | c.3354G>T (p.Leu1118=) n.3938G>T c.2406G>T (p.Leu802=) c.1896G>T (p.Leu632=) c.*2352G>T (n.*2352G>T) c.3750G>T (p.Leu1250=) c.3732G>T (p.Leu1244=) | gnomAD v4 |
| 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.50721587C>A | CA515262941 | SHANK3 | c.3355C>A (p.Pro1119Thr) n.3939C>A c.2407C>A (p.Pro803Thr) c.1897C>A (p.Pro633Thr) c.*2353C>A (n.*2353C>A) c.3751C>A (p.Pro1251Thr) c.3733C>A (p.Pro1245Thr) | gnomAD v4 |
| 22 | g.50721587C= | CA2411008341 | SHANK3 | c.3355C= (p.Pro1119=) n.3939C= c.2407C= (p.Pro803=) c.1897C= (p.Pro633=) c.*2353C= (n.*2353C=) c.3751C= (p.Pro1251=) c.3733C= (p.Pro1245=) | |
| 22 | g.50721587C>G | CA515262942 | SHANK3 | c.3355C>G (p.Pro1119Ala) n.3939C>G c.2407C>G (p.Pro803Ala) c.1897C>G (p.Pro633Ala) c.*2353C>G (n.*2353C>G) c.3751C>G (p.Pro1251Ala) c.3733C>G (p.Pro1245Ala) | |
| 22 | g.50721587C>T | CA10326123 | SHANK3 | c.3355C>T (p.Pro1119Ser) n.3939C>T c.2407C>T (p.Pro803Ser) c.1897C>T (p.Pro633Ser) c.*2353C>T (n.*2353C>T) c.3751C>T (p.Pro1251Ser) c.3733C>T (p.Pro1245Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721588C>A | CA515262943 | SHANK3 | c.3356C>A (p.Pro1119His) n.3940C>A c.2408C>A (p.Pro803His) c.1898C>A (p.Pro633His) c.*2354C>A (n.*2354C>A) c.3752C>A (p.Pro1251His) c.3734C>A (p.Pro1245His) | |
| 22 | g.50721588C>G | CA515262945 | SHANK3 | c.3356C>G (p.Pro1119Arg) n.3940C>G c.2408C>G (p.Pro803Arg) c.1898C>G (p.Pro633Arg) c.*2354C>G (n.*2354C>G) c.3752C>G (p.Pro1251Arg) c.3734C>G (p.Pro1245Arg) | |
| 22 | g.50721588C>T | CA515262944 | SHANK3 | c.3356C>T (p.Pro1119Leu) n.3940C>T c.2408C>T (p.Pro803Leu) c.1898C>T (p.Pro633Leu) c.*2354C>T (n.*2354C>T) c.3752C>T (p.Pro1251Leu) c.3734C>T (p.Pro1245Leu) | gnomAD v4 |
| 22 | g.50721589C>A | CA515262946 | SHANK3 | c.3357C>A (p.Pro1119=) n.3941C>A c.2409C>A (p.Pro803=) c.1899C>A (p.Pro633=) c.*2355C>A (n.*2355C>A) c.3753C>A (p.Pro1251=) c.3735C>A (p.Pro1245=) | |
| 22 | g.50721589C= | CA2411008342 | SHANK3 | c.3357C= (p.Pro1119=) n.3941C= c.2409C= (p.Pro803=) c.1899C= (p.Pro633=) c.*2355C= (n.*2355C=) c.3753C= (p.Pro1251=) c.3735C= (p.Pro1245=) | |
| 22 | g.50721589C>G | CA515262947 | SHANK3 | c.3357C>G (p.Pro1119=) n.3941C>G c.2409C>G (p.Pro803=) c.1899C>G (p.Pro633=) c.*2355C>G (n.*2355C>G) c.3753C>G (p.Pro1251=) c.3735C>G (p.Pro1245=) | |
| 22 | g.50721589C>T | CA515262948 | SHANK3 | c.3357C>T (p.Pro1119=) n.3941C>T c.2409C>T (p.Pro803=) c.1899C>T (p.Pro633=) c.*2355C>T (n.*2355C>T) c.3753C>T (p.Pro1251=) c.3735C>T (p.Pro1245=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721590A= | CA2411008343 | SHANK3 | c.3358A= (p.Ser1120=) n.3942A= c.2410A= (p.Ser804=) c.1900A= (p.Ser634=) c.*2356A= (n.*2356A=) c.3754A= (p.Ser1252=) c.3736A= (p.Ser1246=) | |
| 22 | g.50721590A>C | CA515262949 | SHANK3 | c.3358A>C (p.Ser1120Arg) n.3942A>C c.2410A>C (p.Ser804Arg) c.1900A>C (p.Ser634Arg) c.*2356A>C (n.*2356A>C) c.3754A>C (p.Ser1252Arg) c.3736A>C (p.Ser1246Arg) | |
| 22 | g.50721590A>G | CA515262950 | SHANK3 | c.3358A>G (p.Ser1120Gly) n.3942A>G c.2410A>G (p.Ser804Gly) c.1900A>G (p.Ser634Gly) c.*2356A>G (n.*2356A>G) c.3754A>G (p.Ser1252Gly) c.3736A>G (p.Ser1246Gly) | dbSNP |
| 22 | g.50721590A>T | CA515262951 | SHANK3 | c.3358A>T (p.Ser1120Cys) n.3942A>T c.2410A>T (p.Ser804Cys) c.1900A>T (p.Ser634Cys) c.*2356A>T (n.*2356A>T) c.3754A>T (p.Ser1252Cys) c.3736A>T (p.Ser1246Cys) | |
| 22 | g.50721591G>A | CA515262952 | SHANK3 | c.3359G>A (p.Ser1120Asn) n.3943G>A c.2411G>A (p.Ser804Asn) c.1901G>A (p.Ser634Asn) c.*2357G>A (n.*2357G>A) c.3755G>A (p.Ser1252Asn) c.3737G>A (p.Ser1246Asn) | gnomAD v4 |
| 22 | g.50721591G>C | CA515262953 | SHANK3 | c.3359G>C (p.Ser1120Thr) n.3943G>C c.2411G>C (p.Ser804Thr) c.1901G>C (p.Ser634Thr) c.*2357G>C (n.*2357G>C) c.3755G>C (p.Ser1252Thr) c.3737G>C (p.Ser1246Thr) | |
| 22 | g.50721591G= | CA2411008344 | SHANK3 | c.3359G= (p.Ser1120=) n.3943G= c.2411G= (p.Ser804=) c.1901G= (p.Ser634=) c.*2357G= (n.*2357G=) c.3755G= (p.Ser1252=) c.3737G= (p.Ser1246=) | |
| 22 | g.50721591G>T | CA515262954 | SHANK3 | c.3359G>T (p.Ser1120Ile) n.3943G>T c.2411G>T (p.Ser804Ile) c.1901G>T (p.Ser634Ile) c.*2357G>T (n.*2357G>T) c.3755G>T (p.Ser1252Ile) c.3737G>T (p.Ser1246Ile) | |
| 22 | g.50721592C>A | CA515262955 | SHANK3 | c.3360C>A (p.Ser1120Arg) n.3944C>A c.2412C>A (p.Ser804Arg) c.1902C>A (p.Ser634Arg) c.*2358C>A (n.*2358C>A) c.3756C>A (p.Ser1252Arg) c.3738C>A (p.Ser1246Arg) | gnomAD v4 |
| 22 | g.50721592C= | CA2411008345 | SHANK3 | c.3360C= (p.Ser1120=) n.3944C= c.2412C= (p.Ser804=) c.1902C= (p.Ser634=) c.*2358C= (n.*2358C=) c.3756C= (p.Ser1252=) c.3738C= (p.Ser1246=) | |
| 22 | g.50721592C>G | CA515262956 | SHANK3 | c.3360C>G (p.Ser1120Arg) n.3944C>G c.2412C>G (p.Ser804Arg) c.1902C>G (p.Ser634Arg) c.*2358C>G (n.*2358C>G) c.3756C>G (p.Ser1252Arg) c.3738C>G (p.Ser1246Arg) | |
| 22 | g.50721592C>T | CA10326124 | SHANK3 | c.3360C>T (p.Ser1120=) n.3944C>T c.2412C>T (p.Ser804=) c.1902C>T (p.Ser634=) c.*2358C>T (n.*2358C>T) c.3756C>T (p.Ser1252=) c.3738C>T (p.Ser1246=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721596dup | CA915951509 | SHANK3 | c.3364dup (p.Arg1122ProfsTer?) n.3948dup c.2416dup (p.Arg806ProfsTer?) c.1906dup (p.Arg636ProfsTer?) c.*2362dup (n.*2362dup) c.3760dup (p.Arg1254ProfsTer?) c.3742dup (p.Arg1248ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721596del | CA2577768684 | SHANK3 | c.3364del (p.Arg1122GlyfsTer29) n.3948del c.2416del (p.Arg806GlyfsTer29) c.1906del (p.Arg636GlyfsTer29) c.*2362del (n.*2362del) c.3760del (p.Arg1254GlyfsTer29) c.3742del (p.Arg1248GlyfsTer29) | |
| 22 | g.50721593C>A | CA515262957 | SHANK3 | c.3361C>A (p.Pro1121Thr) n.3945C>A c.2413C>A (p.Pro805Thr) c.1903C>A (p.Pro635Thr) c.*2359C>A (n.*2359C>A) c.3757C>A (p.Pro1253Thr) c.3739C>A (p.Pro1247Thr) | |
| 22 | g.50721593C= | CA2411008346 | SHANK3 | c.3361C= (p.Pro1121=) n.3945C= c.2413C= (p.Pro805=) c.1903C= (p.Pro635=) c.*2359C= (n.*2359C=) c.3757C= (p.Pro1253=) c.3739C= (p.Pro1247=) | |
| 22 | g.50721593C>G | CA515262958 | SHANK3 | c.3361C>G (p.Pro1121Ala) n.3945C>G c.2413C>G (p.Pro805Ala) c.1903C>G (p.Pro635Ala) c.*2359C>G (n.*2359C>G) c.3757C>G (p.Pro1253Ala) c.3739C>G (p.Pro1247Ala) | |
| 22 | g.50721593C>T | CA10326125 | SHANK3 | c.3361C>T (p.Pro1121Ser) n.3945C>T c.2413C>T (p.Pro805Ser) c.1903C>T (p.Pro635Ser) c.*2359C>T (n.*2359C>T) c.3757C>T (p.Pro1253Ser) c.3739C>T (p.Pro1247Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721594C>A | CA515262959 | SHANK3 | c.3362C>A (p.Pro1121His) n.3946C>A c.2414C>A (p.Pro805His) c.1904C>A (p.Pro635His) c.*2360C>A (n.*2360C>A) c.3758C>A (p.Pro1253His) c.3740C>A (p.Pro1247His) | dbSNP gnomAD v4 |
| 22 | g.50721594C= | CA2411008347 | SHANK3 | c.3362C= (p.Pro1121=) n.3946C= c.2414C= (p.Pro805=) c.1904C= (p.Pro635=) c.*2360C= (n.*2360C=) c.3758C= (p.Pro1253=) c.3740C= (p.Pro1247=) | |
| 22 | g.50721594C>G | CA515262960 | SHANK3 | c.3362C>G (p.Pro1121Arg) n.3946C>G c.2414C>G (p.Pro805Arg) c.1904C>G (p.Pro635Arg) c.*2360C>G (n.*2360C>G) c.3758C>G (p.Pro1253Arg) c.3740C>G (p.Pro1247Arg) | |
| 22 | g.50721594C>T | CA515262961 | SHANK3 | c.3362C>T (p.Pro1121Leu) n.3946C>T c.2414C>T (p.Pro805Leu) c.1904C>T (p.Pro635Leu) c.*2360C>T (n.*2360C>T) c.3758C>T (p.Pro1253Leu) c.3740C>T (p.Pro1247Leu) | gnomAD v4 |
| 22 | g.50721595C>A | CA515262962 | SHANK3 | c.3363C>A (p.Pro1121=) n.3947C>A c.2415C>A (p.Pro805=) c.1905C>A (p.Pro635=) c.*2361C>A (n.*2361C>A) c.3759C>A (p.Pro1253=) c.3741C>A (p.Pro1247=) | gnomAD v4 |
| 22 | g.50721595C= | CA2411008348 | SHANK3 | c.3363C= (p.Pro1121=) n.3947C= c.2415C= (p.Pro805=) c.1905C= (p.Pro635=) c.*2361C= (n.*2361C=) c.3759C= (p.Pro1253=) c.3741C= (p.Pro1247=) | |
| 22 | g.50721595C>G | CA515262963 | SHANK3 | c.3363C>G (p.Pro1121=) n.3947C>G c.2415C>G (p.Pro805=) c.1905C>G (p.Pro635=) c.*2361C>G (n.*2361C>G) c.3759C>G (p.Pro1253=) c.3741C>G (p.Pro1247=) | |
| 22 | g.50721595C>T | CA10326126 | SHANK3 | c.3363C>T (p.Pro1121=) n.3947C>T c.2415C>T (p.Pro805=) c.1905C>T (p.Pro635=) c.*2361C>T (n.*2361C>T) c.3759C>T (p.Pro1253=) c.3741C>T (p.Pro1247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721596C>A | CA515262964 | SHANK3 | c.3364C>A (p.Arg1122=) n.3948C>A c.2416C>A (p.Arg806=) c.1906C>A (p.Arg636=) c.*2362C>A (n.*2362C>A) c.3760C>A (p.Arg1254=) c.3742C>A (p.Arg1248=) | gnomAD v4 |
| 22 | g.50721596C= | CA2411008349 | SHANK3 | c.3364C= (p.Arg1122=) n.3948C= c.2416C= (p.Arg806=) c.1906C= (p.Arg636=) c.*2362C= (n.*2362C=) c.3760C= (p.Arg1254=) c.3742C= (p.Arg1248=) | |
| 22 | g.50721596C>G | CA515262965 | SHANK3 | c.3364C>G (p.Arg1122Gly) n.3948C>G c.2416C>G (p.Arg806Gly) c.1906C>G (p.Arg636Gly) c.*2362C>G (n.*2362C>G) c.3760C>G (p.Arg1254Gly) c.3742C>G (p.Arg1248Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721596C>T | CA10326127 | SHANK3 | c.3364C>T (p.Arg1122Trp) n.3948C>T c.2416C>T (p.Arg806Trp) c.1906C>T (p.Arg636Trp) c.*2362C>T (n.*2362C>T) c.3760C>T (p.Arg1254Trp) c.3742C>T (p.Arg1248Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 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 |