| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721086_50721091delinsAGCCTG | CA2411008022 | SHANK3 | c.2854_2859delinsAGCCTG (p.Ser952=) n.3438_3443delinsAGCCTG c.1906_1911delinsAGCCTG (p.Ser636=) c.1396_1401delinsAGCCTG (p.Ser466=) c.*1852_*1857delinsAGCCTG (n.*1852_*1857delinsAGCCTG) c.3250_3255delinsAGCCTG (p.Ser1084=) c.3232_3237delinsAGCCTG (p.Ser1078=) | |
| 22 | g.50721088_50721092del | CA16621140 | SHANK3 | c.2856_2860del (p.Ser952ArgfsTer?) n.3440_3444del c.1908_1912del (p.Ser636ArgfsTer?) c.1398_1402del (p.Ser466ArgfsTer?) c.*1854_*1858del (n.*1854_*1858del) c.3252_3256del (p.Ser1084ArgfsTer?) c.3234_3238del (p.Ser1078ArgfsTer?) | ClinVar dbSNP |
| 22 | g.50721088C>A | CA515261123 | SHANK3 | c.2856C>A (p.Ser952Arg) n.3440C>A c.1908C>A (p.Ser636Arg) c.1398C>A (p.Ser466Arg) c.*1854C>A (n.*1854C>A) c.3252C>A (p.Ser1084Arg) c.3234C>A (p.Ser1078Arg) | gnomAD v4 |
| 22 | g.50721088C>G | CA515261124 | SHANK3 | c.2856C>G (p.Ser952Arg) n.3440C>G c.1908C>G (p.Ser636Arg) c.1398C>G (p.Ser466Arg) c.*1854C>G (n.*1854C>G) c.3252C>G (p.Ser1084Arg) c.3234C>G (p.Ser1078Arg) | gnomAD v4 |
| 22 | g.50721088C>T | CA515261125 | SHANK3 | c.2856C>T (p.Ser952=) n.3440C>T c.1908C>T (p.Ser636=) c.1398C>T (p.Ser466=) c.*1854C>T (n.*1854C>T) c.3252C>T (p.Ser1084=) c.3234C>T (p.Ser1078=) | gnomAD v4 |
| 22 | g.50721089C>A | CA515261126 | SHANK3 | c.2857C>A (p.Leu953Met) n.3441C>A c.1909C>A (p.Leu637Met) c.1399C>A (p.Leu467Met) c.*1855C>A (n.*1855C>A) c.3253C>A (p.Leu1085Met) c.3235C>A (p.Leu1079Met) | gnomAD v4 |
| 22 | g.50721089C= | CA2411008025 | SHANK3 | c.2857C= (p.Leu953=) n.3441C= c.1909C= (p.Leu637=) c.1399C= (p.Leu467=) c.*1855C= (n.*1855C=) c.3253C= (p.Leu1085=) c.3235C= (p.Leu1079=) | |
| 22 | g.50721089C>G | CA515261127 | SHANK3 | c.2857C>G (p.Leu953Val) n.3441C>G c.1909C>G (p.Leu637Val) c.1399C>G (p.Leu467Val) c.*1855C>G (n.*1855C>G) c.3253C>G (p.Leu1085Val) c.3235C>G (p.Leu1079Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721089C>T | CA515261128 | SHANK3 | c.2857C>T (p.Leu953=) n.3441C>T c.1909C>T (p.Leu637=) c.1399C>T (p.Leu467=) c.*1855C>T (n.*1855C>T) c.3253C>T (p.Leu1085=) c.3235C>T (p.Leu1079=) | gnomAD v4 |
| 22 | g.50721090T>A | CA515261129 | SHANK3 | c.2858T>A (p.Leu953Gln) n.3442T>A c.1910T>A (p.Leu637Gln) c.1400T>A (p.Leu467Gln) c.*1856T>A (n.*1856T>A) c.3254T>A (p.Leu1085Gln) c.3236T>A (p.Leu1079Gln) | |
| 22 | g.50721090T>C | CA515261130 | SHANK3 | c.2858T>C (p.Leu953Pro) n.3442T>C c.1910T>C (p.Leu637Pro) c.1400T>C (p.Leu467Pro) c.*1856T>C (n.*1856T>C) c.3254T>C (p.Leu1085Pro) c.3236T>C (p.Leu1079Pro) | gnomAD v4 |
| 22 | g.50721090T>G | CA515261131 | SHANK3 | c.2858T>G (p.Leu953Arg) n.3442T>G c.1910T>G (p.Leu637Arg) c.1400T>G (p.Leu467Arg) c.*1856T>G (n.*1856T>G) c.3254T>G (p.Leu1085Arg) c.3236T>G (p.Leu1079Arg) | |
| 22 | g.50721091G>A | CA515261132 | SHANK3 | c.2859G>A (p.Leu953=) n.3443G>A c.1911G>A (p.Leu637=) c.1401G>A (p.Leu467=) c.*1857G>A (n.*1857G>A) c.3255G>A (p.Leu1085=) c.3237G>A (p.Leu1079=) | |
| 22 | g.50721091G>C | CA10325991 | SHANK3 | c.2859G>C (p.Leu953=) n.3443G>C c.1911G>C (p.Leu637=) c.1401G>C (p.Leu467=) c.*1857G>C (n.*1857G>C) c.3255G>C (p.Leu1085=) c.3237G>C (p.Leu1079=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721091G= | CA2411008026 | SHANK3 | c.2859G= (p.Leu953=) n.3443G= c.1911G= (p.Leu637=) c.1401G= (p.Leu467=) c.*1857G= (n.*1857G=) c.3255G= (p.Leu1085=) c.3237G= (p.Leu1079=) | |
| 22 | g.50721091G>T | CA515261133 | SHANK3 | c.2859G>T (p.Leu953=) n.3443G>T c.1911G>T (p.Leu637=) c.1401G>T (p.Leu467=) c.*1857G>T (n.*1857G>T) c.3255G>T (p.Leu1085=) c.3237G>T (p.Leu1079=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721094del | CA2657583425 | SHANK3 | c.2862del (p.Ser956ArgfsTer?) n.3446del c.1914del (p.Ser640ArgfsTer?) c.1404del (p.Ser470ArgfsTer?) c.*1860del (n.*1860del) c.3258del (p.Ser1088ArgfsTer?) c.3240del (p.Ser1082ArgfsTer?) | gnomAD v4 |
| 22 | g.50721092G>A | CA515261136 | SHANK3 | c.2860G>A (p.Gly954Arg) n.3444G>A c.1912G>A (p.Gly638Arg) c.1402G>A (p.Gly468Arg) c.*1858G>A (n.*1858G>A) c.3256G>A (p.Gly1086Arg) c.3238G>A (p.Gly1080Arg) | |
| 22 | g.50721092G>C | CA515261135 | SHANK3 | c.2860G>C (p.Gly954Arg) n.3444G>C c.1912G>C (p.Gly638Arg) c.1402G>C (p.Gly468Arg) c.*1858G>C (n.*1858G>C) c.3256G>C (p.Gly1086Arg) c.3238G>C (p.Gly1080Arg) | gnomAD v4 |
| 22 | g.50721092G>T | CA515261134 | SHANK3 | c.2860G>T (p.Gly954Trp) n.3444G>T c.1912G>T (p.Gly638Trp) c.1402G>T (p.Gly468Trp) c.*1858G>T (n.*1858G>T) c.3256G>T (p.Gly1086Trp) c.3238G>T (p.Gly1080Trp) | gnomAD v4 |
| 22 | g.50721093G>A | CA515261137 | SHANK3 | c.2861G>A (p.Gly954Glu) n.3445G>A c.1913G>A (p.Gly638Glu) c.1403G>A (p.Gly468Glu) c.*1859G>A (n.*1859G>A) c.3257G>A (p.Gly1086Glu) c.3239G>A (p.Gly1080Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721093G>C | CA515261139 | SHANK3 | c.2861G>C (p.Gly954Ala) n.3445G>C c.1913G>C (p.Gly638Ala) c.1403G>C (p.Gly468Ala) c.*1859G>C (n.*1859G>C) c.3257G>C (p.Gly1086Ala) c.3239G>C (p.Gly1080Ala) | |
| 22 | g.50721093G= | CA2411008027 | SHANK3 | c.2861G= (p.Gly954=) n.3445G= c.1913G= (p.Gly638=) c.1403G= (p.Gly468=) c.*1859G= (n.*1859G=) c.3257G= (p.Gly1086=) c.3239G= (p.Gly1080=) | |
| 22 | g.50721093G>T | CA515261138 | SHANK3 | c.2861G>T (p.Gly954Val) n.3445G>T c.1913G>T (p.Gly638Val) c.1403G>T (p.Gly468Val) c.*1859G>T (n.*1859G>T) c.3257G>T (p.Gly1086Val) c.3239G>T (p.Gly1080Val) | gnomAD v4 |
| 22 | g.50721094G>A | CA10325992 | SHANK3 | c.2862G>A (p.Gly954=) n.3446G>A c.1914G>A (p.Gly638=) c.1404G>A (p.Gly468=) c.*1860G>A (n.*1860G>A) c.3258G>A (p.Gly1086=) c.3240G>A (p.Gly1080=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721094G>C | CA515261141 | SHANK3 | c.2862G>C (p.Gly954=) n.3446G>C c.1914G>C (p.Gly638=) c.1404G>C (p.Gly468=) c.*1860G>C (n.*1860G>C) c.3258G>C (p.Gly1086=) c.3240G>C (p.Gly1080=) | |
| 22 | g.50721094G= | CA2411008028 | SHANK3 | c.2862G= (p.Gly954=) n.3446G= c.1914G= (p.Gly638=) c.1404G= (p.Gly468=) c.*1860G= (n.*1860G=) c.3258G= (p.Gly1086=) c.3240G= (p.Gly1080=) | |
| 22 | g.50721094G>T | CA515261140 | SHANK3 | c.2862G>T (p.Gly954=) n.3446G>T c.1914G>T (p.Gly638=) c.1404G>T (p.Gly468=) c.*1860G>T (n.*1860G>T) c.3258G>T (p.Gly1086=) c.3240G>T (p.Gly1080=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721095C>A | CA515261142 | SHANK3 | c.2863C>A (p.Pro955Thr) n.3447C>A c.1915C>A (p.Pro639Thr) c.1405C>A (p.Pro469Thr) c.*1861C>A (n.*1861C>A) c.3259C>A (p.Pro1087Thr) c.3241C>A (p.Pro1081Thr) | gnomAD v4 |
| 22 | g.50721095C= | CA2411008029 | SHANK3 | c.2863C= (p.Pro955=) n.3447C= c.1915C= (p.Pro639=) c.1405C= (p.Pro469=) c.*1861C= (n.*1861C=) c.3259C= (p.Pro1087=) c.3241C= (p.Pro1081=) | |
| 22 | g.50721095C>G | CA515261143 | SHANK3 | c.2863C>G (p.Pro955Ala) n.3447C>G c.1915C>G (p.Pro639Ala) c.1405C>G (p.Pro469Ala) c.*1861C>G (n.*1861C>G) c.3259C>G (p.Pro1087Ala) c.3241C>G (p.Pro1081Ala) | |
| 22 | g.50721095C>T | CA10325993 | SHANK3 | c.2863C>T (p.Pro955Ser) n.3447C>T c.1915C>T (p.Pro639Ser) c.1405C>T (p.Pro469Ser) c.*1861C>T (n.*1861C>T) c.3259C>T (p.Pro1087Ser) c.3241C>T (p.Pro1081Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721097del | CA2657583426 | SHANK3 | c.2865del (p.Ser956ArgfsTer?) n.3449del c.1917del (p.Ser640ArgfsTer?) c.1407del (p.Ser470ArgfsTer?) c.*1863del (n.*1863del) c.3261del (p.Ser1088ArgfsTer?) c.3243del (p.Ser1082ArgfsTer?) | gnomAD v4 |
| 22 | g.50721096C>A | CA515261144 | SHANK3 | c.2864C>A (p.Pro955His) n.3448C>A c.1916C>A (p.Pro639His) c.1406C>A (p.Pro469His) c.*1862C>A (n.*1862C>A) c.3260C>A (p.Pro1087His) c.3242C>A (p.Pro1081His) | gnomAD v4 |
| 22 | g.50721096C= | CA2411008030 | SHANK3 | c.2864C= (p.Pro955=) n.3448C= c.1916C= (p.Pro639=) c.1406C= (p.Pro469=) c.*1862C= (n.*1862C=) c.3260C= (p.Pro1087=) c.3242C= (p.Pro1081=) | |
| 22 | g.50721096C>G | CA515261145 | SHANK3 | c.2864C>G (p.Pro955Arg) n.3448C>G c.1916C>G (p.Pro639Arg) c.1406C>G (p.Pro469Arg) c.*1862C>G (n.*1862C>G) c.3260C>G (p.Pro1087Arg) c.3242C>G (p.Pro1081Arg) | |
| 22 | g.50721096C>T | CA10325994 | SHANK3 | c.2864C>T (p.Pro955Leu) n.3448C>T c.1916C>T (p.Pro639Leu) c.1406C>T (p.Pro469Leu) c.*1862C>T (n.*1862C>T) c.3260C>T (p.Pro1087Leu) c.3242C>T (p.Pro1081Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721097C>A | CA515261146 | SHANK3 | c.2865C>A (p.Pro955=) n.3449C>A c.1917C>A (p.Pro639=) c.1407C>A (p.Pro469=) c.*1863C>A (n.*1863C>A) c.3261C>A (p.Pro1087=) c.3243C>A (p.Pro1081=) | COSMIC COSMIC COSMIC |
| 22 | g.50721097C= | CA2411008031 | SHANK3 | c.2865C= (p.Pro955=) n.3449C= c.1917C= (p.Pro639=) c.1407C= (p.Pro469=) c.*1863C= (n.*1863C=) c.3261C= (p.Pro1087=) c.3243C= (p.Pro1081=) | |
| 22 | g.50721097C>G | CA515261147 | SHANK3 | c.2865C>G (p.Pro955=) n.3449C>G c.1917C>G (p.Pro639=) c.1407C>G (p.Pro469=) c.*1863C>G (n.*1863C>G) c.3261C>G (p.Pro1087=) c.3243C>G (p.Pro1081=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721097C>T | CA515261148 | SHANK3 | c.2865C>T (p.Pro955=) n.3449C>T c.1917C>T (p.Pro639=) c.1407C>T (p.Pro469=) c.*1863C>T (n.*1863C>T) c.3261C>T (p.Pro1087=) c.3243C>T (p.Pro1081=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721098T>A | CA515261149 | SHANK3 | c.2866T>A (p.Ser956Thr) n.3450T>A c.1918T>A (p.Ser640Thr) c.1408T>A (p.Ser470Thr) c.*1864T>A (n.*1864T>A) c.3262T>A (p.Ser1088Thr) c.3244T>A (p.Ser1082Thr) | |
| 22 | g.50721098T>C | CA515261150 | SHANK3 | c.2866T>C (p.Ser956Pro) n.3450T>C c.1918T>C (p.Ser640Pro) c.1408T>C (p.Ser470Pro) c.*1864T>C (n.*1864T>C) c.3262T>C (p.Ser1088Pro) c.3244T>C (p.Ser1082Pro) | |
| 22 | g.50721098T>G | CA515261151 | SHANK3 | c.2866T>G (p.Ser956Ala) n.3450T>G c.1918T>G (p.Ser640Ala) c.1408T>G (p.Ser470Ala) c.*1864T>G (n.*1864T>G) c.3262T>G (p.Ser1088Ala) c.3244T>G (p.Ser1082Ala) | |
| 22 | g.50721099C>A | CA515261152 | SHANK3 | c.2867C>A (p.Ser956Ter) n.3451C>A c.1919C>A (p.Ser640Ter) c.1409C>A (p.Ser470Ter) c.*1865C>A (n.*1865C>A) c.3263C>A (p.Ser1088Ter) c.3245C>A (p.Ser1082Ter) | |
| 22 | g.50721099C= | CA2411008032 | SHANK3 | c.2867C= (p.Ser956=) n.3451C= c.1919C= (p.Ser640=) c.1409C= (p.Ser470=) c.*1865C= (n.*1865C=) c.3263C= (p.Ser1088=) c.3245C= (p.Ser1082=) | |
| 22 | g.50721099C>G | CA515261153 | SHANK3 | c.2867C>G (p.Ser956Trp) n.3451C>G c.1919C>G (p.Ser640Trp) c.1409C>G (p.Ser470Trp) c.*1865C>G (n.*1865C>G) c.3263C>G (p.Ser1088Trp) c.3245C>G (p.Ser1082Trp) | gnomAD v4 |
| 22 | g.50721099C>T | CA10325995 | SHANK3 | c.2867C>T (p.Ser956Leu) n.3451C>T c.1919C>T (p.Ser640Leu) c.1409C>T (p.Ser470Leu) c.*1865C>T (n.*1865C>T) c.3263C>T (p.Ser1088Leu) c.3245C>T (p.Ser1082Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721100G>A | CA515261154 | SHANK3 | c.2868G>A (p.Ser956=) n.3452G>A c.1920G>A (p.Ser640=) c.1410G>A (p.Ser470=) c.*1866G>A (n.*1866G>A) c.3264G>A (p.Ser1088=) c.3246G>A (p.Ser1082=) | gnomAD v4 |
| 22 | g.50721100G>C | CA515261155 | SHANK3 | c.2868G>C (p.Ser956=) n.3452G>C c.1920G>C (p.Ser640=) c.1410G>C (p.Ser470=) c.*1866G>C (n.*1866G>C) c.3264G>C (p.Ser1088=) c.3246G>C (p.Ser1082=) |