Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50720285_50720365del | CA2657582781 | SHANK3 | c.2053_2133del (p.Gln685_Pro711del) n.2637_2717del c.1105_1185del (p.Gln369_Pro395del) c.595_675del (p.Gln199_Pro225del) c.*1051_*1131del (n.*1051_*1131del) c.2449_2529del (p.Gln817_Pro843del) c.2431_2511del (p.Gln811_Pro837del) | gnomAD v4 |
22 | g.50720308_50720364del | CA1026671807 | SHANK3 | c.2076_2132del (p.Ala693_Pro711del) n.2660_2716del c.1128_1184del (p.Ala377_Pro395del) c.618_674del (p.Ala207_Pro225del) c.*1074_*1130del (n.*1074_*1130del) c.2472_2528del (p.Ala825_Pro843del) c.2454_2510del (p.Ala819_Pro837del) | gnomAD v3 gnomAD v4 |
22 | g.50720344_50720364del | CA2657582994 | SHANK3 | c.2112_2132del (p.Phe705_Pro711del) n.2696_2716del c.1164_1184del (p.Phe389_Pro395del) c.654_674del (p.Phe219_Pro225del) c.*1110_*1130del (n.*1110_*1130del) c.2508_2528del (p.Phe837_Pro843del) c.2490_2510del (p.Phe831_Pro837del) | gnomAD v4 |
22 | g.50720359_50720364dup | CA2657583024 | SHANK3 | c.2127_2132dup (p.Pro711_Gly712insProPro) n.2711_2716dup c.1179_1184dup (p.Pro395_Gly396insProPro) c.669_674dup (p.Pro225_Gly226insProPro) c.*1125_*1130dup (n.*1125_*1130dup) c.2523_2528dup (p.Pro843_Gly844insProPro) c.2505_2510dup (p.Pro837_Gly838insProPro) | gnomAD v4 |
22 | g.50720363_50720365del | CA2657583036 | SHANK3 | c.2131_2133del (p.Pro711del) n.2715_2717del c.1183_1185del (p.Pro395del) c.673_675del (p.Pro225del) c.*1129_*1131del (n.*1129_*1131del) c.2527_2529del (p.Pro843del) c.2509_2511del (p.Pro837del) | gnomAD v4 |
22 | g.50720365_50720374del | CA2657583037 | SHANK3 | c.2133_2142del (p.Gly712ThrfsTer?) n.2717_2726del c.1185_1194del (p.Gly396ThrfsTer?) c.675_684del (p.Gly226ThrfsTer?) c.*1131_*1140del (n.*1131_*1140del) c.2529_2538del (p.Gly844ThrfsTer?) c.2511_2520del (p.Gly838ThrfsTer?) | gnomAD v4 |
22 | g.50720363C>A | CA515259050 | SHANK3 | c.2131C>A (p.Pro711Thr) n.2715C>A c.1183C>A (p.Pro395Thr) c.673C>A (p.Pro225Thr) c.*1129C>A (n.*1129C>A) c.2527C>A (p.Pro843Thr) c.2509C>A (p.Pro837Thr) | gnomAD v4 |
22 | g.50720363C>G | CA515259051 | SHANK3 | c.2131C>G (p.Pro711Ala) n.2715C>G c.1183C>G (p.Pro395Ala) c.673C>G (p.Pro225Ala) c.*1129C>G (n.*1129C>G) c.2527C>G (p.Pro843Ala) c.2509C>G (p.Pro837Ala) | gnomAD v4 |
22 | g.50720363C>T | CA515259052 | SHANK3 | c.2131C>T (p.Pro711Ser) n.2715C>T c.1183C>T (p.Pro395Ser) c.673C>T (p.Pro225Ser) c.*1129C>T (n.*1129C>T) c.2527C>T (p.Pro843Ser) c.2509C>T (p.Pro837Ser) | gnomAD v4 |
22 | g.50720364C>A | CA515259053 | SHANK3 | c.2132C>A (p.Pro711Gln) n.2716C>A c.1184C>A (p.Pro395Gln) c.674C>A (p.Pro225Gln) c.*1130C>A (n.*1130C>A) c.2528C>A (p.Pro843Gln) c.2510C>A (p.Pro837Gln) | gnomAD v4 |
22 | g.50720364C>G | CA515259054 | SHANK3 | c.2132C>G (p.Pro711Arg) n.2716C>G c.1184C>G (p.Pro395Arg) c.674C>G (p.Pro225Arg) c.*1130C>G (n.*1130C>G) c.2528C>G (p.Pro843Arg) c.2510C>G (p.Pro837Arg) | gnomAD v4 |
22 | g.50720364C>T | CA515259055 | SHANK3 | c.2132C>T (p.Pro711Leu) n.2716C>T c.1184C>T (p.Pro395Leu) c.674C>T (p.Pro225Leu) c.*1130C>T (n.*1130C>T) c.2528C>T (p.Pro843Leu) c.2510C>T (p.Pro837Leu) | gnomAD v4 |
22 | g.50720365G>A | CA515259056 | SHANK3 | c.2133G>A (p.Pro711=) n.2717G>A c.1185G>A (p.Pro395=) c.675G>A (p.Pro225=) c.*1131G>A (n.*1131G>A) c.2529G>A (p.Pro843=) c.2511G>A (p.Pro837=) | gnomAD v4 |
22 | g.50720365G>C | CA515259057 | SHANK3 | c.2133G>C (p.Pro711=) n.2717G>C c.1185G>C (p.Pro395=) c.675G>C (p.Pro225=) c.*1131G>C (n.*1131G>C) c.2529G>C (p.Pro843=) c.2511G>C (p.Pro837=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720365G= | CA2411007580 | SHANK3 | c.2133G= (p.Pro711=) n.2717G= c.1185G= (p.Pro395=) c.675G= (p.Pro225=) c.*1131G= (n.*1131G=) c.2529G= (p.Pro843=) c.2511G= (p.Pro837=) | |
22 | g.50720365G>T | CA515259058 | SHANK3 | c.2133G>T (p.Pro711=) n.2717G>T c.1185G>T (p.Pro395=) c.675G>T (p.Pro225=) c.*1131G>T (n.*1131G>T) c.2529G>T (p.Pro843=) c.2511G>T (p.Pro837=) | gnomAD v4 |
22 | g.50720367del | CA2657583042 | SHANK3 | c.2135del (p.Gly712AlafsTer?) n.2719del c.1187del (p.Gly396AlafsTer?) c.677del (p.Gly226AlafsTer?) c.*1133del (n.*1133del) c.2531del (p.Gly844AlafsTer?) c.2513del (p.Gly838AlafsTer?) | gnomAD v4 |
22 | g.50720366G>A | CA515259059 | SHANK3 | c.2134G>A (p.Gly712Ser) n.2718G>A c.1186G>A (p.Gly396Ser) c.676G>A (p.Gly226Ser) c.*1132G>A (n.*1132G>A) c.2530G>A (p.Gly844Ser) c.2512G>A (p.Gly838Ser) | gnomAD v4 |
22 | g.50720366G>C | CA515259060 | SHANK3 | c.2134G>C (p.Gly712Arg) n.2718G>C c.1186G>C (p.Gly396Arg) c.676G>C (p.Gly226Arg) c.*1132G>C (n.*1132G>C) c.2530G>C (p.Gly844Arg) c.2512G>C (p.Gly838Arg) | gnomAD v4 |
22 | g.50720366G>T | CA515259061 | SHANK3 | c.2134G>T (p.Gly712Cys) n.2718G>T c.1186G>T (p.Gly396Cys) c.676G>T (p.Gly226Cys) c.*1132G>T (n.*1132G>T) c.2530G>T (p.Gly844Cys) c.2512G>T (p.Gly838Cys) | gnomAD v4 |
22 | g.50720367G>A | CA515259063 | SHANK3 | c.2135G>A (p.Gly712Asp) n.2719G>A c.1187G>A (p.Gly396Asp) c.677G>A (p.Gly226Asp) c.*1133G>A (n.*1133G>A) c.2531G>A (p.Gly844Asp) c.2513G>A (p.Gly838Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720367G>C | CA325578060 | SHANK3 | c.2135G>C (p.Gly712Ala) n.2719G>C c.1187G>C (p.Gly396Ala) c.677G>C (p.Gly226Ala) c.*1133G>C (n.*1133G>C) c.2531G>C (p.Gly844Ala) c.2513G>C (p.Gly838Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720367G= | CA2411007581 | SHANK3 | c.2135G= (p.Gly712=) n.2719G= c.1187G= (p.Gly396=) c.677G= (p.Gly226=) c.*1133G= (n.*1133G=) c.2531G= (p.Gly844=) c.2513G= (p.Gly838=) | |
22 | g.50720367G>T | CA515259062 | SHANK3 | c.2135G>T (p.Gly712Val) n.2719G>T c.1187G>T (p.Gly396Val) c.677G>T (p.Gly226Val) c.*1133G>T (n.*1133G>T) c.2531G>T (p.Gly844Val) c.2513G>T (p.Gly838Val) | gnomAD v4 |
22 | g.50720368C>A | CA515259064 | SHANK3 | c.2136C>A (p.Gly712=) n.2720C>A c.1188C>A (p.Gly396=) c.678C>A (p.Gly226=) c.*1134C>A (n.*1134C>A) c.2532C>A (p.Gly844=) c.2514C>A (p.Gly838=) | gnomAD v4 |
22 | g.50720368C>G | CA515259065 | SHANK3 | c.2136C>G (p.Gly712=) n.2720C>G c.1188C>G (p.Gly396=) c.678C>G (p.Gly226=) c.*1134C>G (n.*1134C>G) c.2532C>G (p.Gly844=) c.2514C>G (p.Gly838=) | gnomAD v4 |
22 | g.50720368C>T | CA515259066 | SHANK3 | c.2136C>T (p.Gly712=) n.2720C>T c.1188C>T (p.Gly396=) c.678C>T (p.Gly226=) c.*1134C>T (n.*1134C>T) c.2532C>T (p.Gly844=) c.2514C>T (p.Gly838=) | gnomAD v4 |
22 | g.50720369C>A | CA515259067 | SHANK3 | c.2137C>A (p.Arg713Ser) n.2721C>A c.1189C>A (p.Arg397Ser) c.679C>A (p.Arg227Ser) c.*1135C>A (n.*1135C>A) c.2533C>A (p.Arg845Ser) c.2515C>A (p.Arg839Ser) | gnomAD v4 |
22 | g.50720369C= | CA2411007582 | SHANK3 | c.2137C= (p.Arg713=) n.2721C= c.1189C= (p.Arg397=) c.679C= (p.Arg227=) c.*1135C= (n.*1135C=) c.2533C= (p.Arg845=) c.2515C= (p.Arg839=) | |
22 | g.50720369C>G | CA515259068 | SHANK3 | c.2137C>G (p.Arg713Gly) n.2721C>G c.1189C>G (p.Arg397Gly) c.679C>G (p.Arg227Gly) c.*1135C>G (n.*1135C>G) c.2533C>G (p.Arg845Gly) c.2515C>G (p.Arg839Gly) | |
22 | g.50720369C>T | CA515259069 | SHANK3 | c.2137C>T (p.Arg713Cys) n.2721C>T c.1189C>T (p.Arg397Cys) c.679C>T (p.Arg227Cys) c.*1135C>T (n.*1135C>T) c.2533C>T (p.Arg845Cys) c.2515C>T (p.Arg839Cys) | dbSNP gnomAD v4 |
22 | g.50720370del | CA2819315429 | SHANK3 | c.2138del (p.Arg713ProfsTer?) n.2722del c.1190del (p.Arg397ProfsTer?) c.680del (p.Arg227ProfsTer?) c.*1136del (n.*1136del) c.2534del (p.Arg845ProfsTer?) c.2516del (p.Arg839ProfsTer?) | |
22 | g.50720370G>A | CA515259070 | SHANK3 | c.2138G>A (p.Arg713His) n.2722G>A c.1190G>A (p.Arg397His) c.680G>A (p.Arg227His) c.*1136G>A (n.*1136G>A) c.2534G>A (p.Arg845His) c.2516G>A (p.Arg839His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720370G>C | CA515259071 | SHANK3 | c.2138G>C (p.Arg713Pro) n.2722G>C c.1190G>C (p.Arg397Pro) c.680G>C (p.Arg227Pro) c.*1136G>C (n.*1136G>C) c.2534G>C (p.Arg845Pro) c.2516G>C (p.Arg839Pro) | gnomAD v4 |
22 | g.50720370G= | CA2411007583 | SHANK3 | c.2138G= (p.Arg713=) n.2722G= c.1190G= (p.Arg397=) c.680G= (p.Arg227=) c.*1136G= (n.*1136G=) c.2534G= (p.Arg845=) c.2516G= (p.Arg839=) | |
22 | g.50720370G>T | CA515259072 | SHANK3 | c.2138G>T (p.Arg713Leu) n.2722G>T c.1190G>T (p.Arg397Leu) c.680G>T (p.Arg227Leu) c.*1136G>T (n.*1136G>T) c.2534G>T (p.Arg845Leu) c.2516G>T (p.Arg839Leu) | dbSNP gnomAD v4 |
22 | g.50720371C>A | CA515259073 | SHANK3 | c.2139C>A (p.Arg713=) n.2723C>A c.1191C>A (p.Arg397=) c.681C>A (p.Arg227=) c.*1137C>A (n.*1137C>A) c.2535C>A (p.Arg845=) c.2517C>A (p.Arg839=) | gnomAD v4 |
22 | g.50720371C>G | CA515259074 | SHANK3 | c.2139C>G (p.Arg713=) n.2723C>G c.1191C>G (p.Arg397=) c.681C>G (p.Arg227=) c.*1137C>G (n.*1137C>G) c.2535C>G (p.Arg845=) c.2517C>G (p.Arg839=) | |
22 | g.50720371C>T | CA515259075 | SHANK3 | c.2139C>T (p.Arg713=) n.2723C>T c.1191C>T (p.Arg397=) c.681C>T (p.Arg227=) c.*1137C>T (n.*1137C>T) c.2535C>T (p.Arg845=) c.2517C>T (p.Arg839=) | gnomAD v4 |
22 | g.50720372G>A | CA515259077 | SHANK3 | c.2140G>A (p.Ala714Thr) n.2724G>A c.1192G>A (p.Ala398Thr) c.682G>A (p.Ala228Thr) c.*1138G>A (n.*1138G>A) c.2536G>A (p.Ala846Thr) c.2518G>A (p.Ala840Thr) | dbSNP gnomAD v4 |
22 | g.50720372G>C | CA515259078 | SHANK3 | c.2140G>C (p.Ala714Pro) n.2724G>C c.1192G>C (p.Ala398Pro) c.682G>C (p.Ala228Pro) c.*1138G>C (n.*1138G>C) c.2536G>C (p.Ala846Pro) c.2518G>C (p.Ala840Pro) | gnomAD v4 |
22 | g.50720372G= | CA2411007584 | SHANK3 | c.2140G= (p.Ala714=) n.2724G= c.1192G= (p.Ala398=) c.682G= (p.Ala228=) c.*1138G= (n.*1138G=) c.2536G= (p.Ala846=) c.2518G= (p.Ala840=) | |
22 | g.50720372G>T | CA515259076 | SHANK3 | c.2140G>T (p.Ala714Ser) n.2724G>T c.1192G>T (p.Ala398Ser) c.682G>T (p.Ala228Ser) c.*1138G>T (n.*1138G>T) c.2536G>T (p.Ala846Ser) c.2518G>T (p.Ala840Ser) | gnomAD v4 |
22 | g.50720373C>A | CA515259079 | SHANK3 | c.2141C>A (p.Ala714Asp) n.2725C>A c.1193C>A (p.Ala398Asp) c.683C>A (p.Ala228Asp) c.*1139C>A (n.*1139C>A) c.2537C>A (p.Ala846Asp) c.2519C>A (p.Ala840Asp) | gnomAD v4 |
22 | g.50720373C= | CA2411007585 | SHANK3 | c.2141C= (p.Ala714=) n.2725C= c.1193C= (p.Ala398=) c.683C= (p.Ala228=) c.*1139C= (n.*1139C=) c.2537C= (p.Ala846=) c.2519C= (p.Ala840=) | |
22 | g.50720373C>G | CA515259081 | SHANK3 | c.2141C>G (p.Ala714Gly) n.2725C>G c.1193C>G (p.Ala398Gly) c.683C>G (p.Ala228Gly) c.*1139C>G (n.*1139C>G) c.2537C>G (p.Ala846Gly) c.2519C>G (p.Ala840Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720373C>T | CA515259080 | SHANK3 | c.2141C>T (p.Ala714Val) n.2725C>T c.1193C>T (p.Ala398Val) c.683C>T (p.Ala228Val) c.*1139C>T (n.*1139C>T) c.2537C>T (p.Ala846Val) c.2519C>T (p.Ala840Val) | dbSNP gnomAD v4 |
22 | g.50720374C>A | CA515259082 | SHANK3 | c.2142C>A (p.Ala714=) n.2726C>A c.1194C>A (p.Ala398=) c.684C>A (p.Ala228=) c.*1140C>A (n.*1140C>A) c.2538C>A (p.Ala846=) c.2520C>A (p.Ala840=) | gnomAD v4 |
22 | g.50720374C>G | CA515259083 | SHANK3 | c.2142C>G (p.Ala714=) n.2726C>G c.1194C>G (p.Ala398=) c.684C>G (p.Ala228=) c.*1140C>G (n.*1140C>G) c.2538C>G (p.Ala846=) c.2520C>G (p.Ala840=) | gnomAD v4 |
22 | g.50720374C>T | CA515259084 | SHANK3 | c.2142C>T (p.Ala714=) n.2726C>T c.1194C>T (p.Ala398=) c.684C>T (p.Ala228=) c.*1140C>T (n.*1140C>T) c.2538C>T (p.Ala846=) c.2520C>T (p.Ala840=) | gnomAD v4 |
22 | g.50720375T>A | CA515259085 | SHANK3 | c.2143T>A (p.Tyr715Asn) n.2727T>A c.1195T>A (p.Tyr399Asn) c.685T>A (p.Tyr229Asn) c.*1141T>A (n.*1141T>A) c.2539T>A (p.Tyr847Asn) c.2521T>A (p.Tyr841Asn) | gnomAD v4 |
22 | g.50720375T>C | CA515259086 | SHANK3 | c.2143T>C (p.Tyr715His) n.2727T>C c.1195T>C (p.Tyr399His) c.685T>C (p.Tyr229His) c.*1141T>C (n.*1141T>C) c.2539T>C (p.Tyr847His) c.2521T>C (p.Tyr841His) | gnomAD v4 |
22 | g.50720375T>G | CA515259087 | SHANK3 | c.2143T>G (p.Tyr715Asp) n.2727T>G c.1195T>G (p.Tyr399Asp) c.685T>G (p.Tyr229Asp) c.*1141T>G (n.*1141T>G) c.2539T>G (p.Tyr847Asp) c.2521T>G (p.Tyr841Asp) | |
22 | g.50720375_50720378delinsTACG | CA2411007586 | SHANK3 | c.2143_2146delinsTACG (p.Tyr715=) n.2727_2730delinsTACG c.1195_1198delinsTACG (p.Tyr399=) c.685_688delinsTACG (p.Tyr229=) c.*1141_*1144delinsTACG (n.*1141_*1144delinsTACG) c.2539_2542delinsTACG (p.Tyr847=) c.2521_2524delinsTACG (p.Tyr841=) | |
22 | g.50720376A>C | CA515259090 | SHANK3 | c.2144A>C (p.Tyr715Ser) n.2728A>C c.1196A>C (p.Tyr399Ser) c.686A>C (p.Tyr229Ser) c.*1142A>C (n.*1142A>C) c.2540A>C (p.Tyr847Ser) c.2522A>C (p.Tyr841Ser) | |
22 | g.50720376A>G | CA515259089 | SHANK3 | c.2144A>G (p.Tyr715Cys) n.2728A>G c.1196A>G (p.Tyr399Cys) c.686A>G (p.Tyr229Cys) c.*1142A>G (n.*1142A>G) c.2540A>G (p.Tyr847Cys) c.2522A>G (p.Tyr841Cys) | ClinVar gnomAD v4 |
22 | g.50720376A>T | CA515259088 | SHANK3 | c.2144A>T (p.Tyr715Phe) n.2728A>T c.1196A>T (p.Tyr399Phe) c.686A>T (p.Tyr229Phe) c.*1142A>T (n.*1142A>T) c.2540A>T (p.Tyr847Phe) c.2522A>T (p.Tyr841Phe) | |
22 | g.50720378_50720380del | CA1026671848 | SHANK3 | c.2146_2148del (p.Asp716del) n.2730_2732del c.1198_1200del (p.Asp400del) c.688_690del (p.Asp230del) c.*1144_*1146del (n.*1144_*1146del) c.2542_2544del (p.Asp848del) c.2524_2526del (p.Asp842del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720377C>A | CA515259091 | SHANK3 | c.2145C>A (p.Tyr715Ter) n.2729C>A c.1197C>A (p.Tyr399Ter) c.687C>A (p.Tyr229Ter) c.*1143C>A (n.*1143C>A) c.2541C>A (p.Tyr847Ter) c.2523C>A (p.Tyr841Ter) | gnomAD v4 |
22 | g.50720377C= | CA2411007587 | SHANK3 | c.2145C= (p.Tyr715=) n.2729C= c.1197C= (p.Tyr399=) c.687C= (p.Tyr229=) c.*1143C= (n.*1143C=) c.2541C= (p.Tyr847=) c.2523C= (p.Tyr841=) | |
22 | g.50720377C>G | CA515259092 | SHANK3 | c.2145C>G (p.Tyr715Ter) n.2729C>G c.1197C>G (p.Tyr399Ter) c.687C>G (p.Tyr229Ter) c.*1143C>G (n.*1143C>G) c.2541C>G (p.Tyr847Ter) c.2523C>G (p.Tyr841Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.50720377C>T | CA515259093 | SHANK3 | c.2145C>T (p.Tyr715=) n.2729C>T c.1197C>T (p.Tyr399=) c.687C>T (p.Tyr229=) c.*1143C>T (n.*1143C>T) c.2541C>T (p.Tyr847=) c.2523C>T (p.Tyr841=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720378G>A | CA515259094 | SHANK3 | c.2146G>A (p.Asp716Asn) n.2730G>A c.1198G>A (p.Asp400Asn) c.688G>A (p.Asp230Asn) c.*1144G>A (n.*1144G>A) c.2542G>A (p.Asp848Asn) c.2524G>A (p.Asp842Asn) | gnomAD v4 |
22 | g.50720378G>C | CA515259095 | SHANK3 | c.2146G>C (p.Asp716His) n.2730G>C c.1198G>C (p.Asp400His) c.688G>C (p.Asp230His) c.*1144G>C (n.*1144G>C) c.2542G>C (p.Asp848His) c.2524G>C (p.Asp842His) | gnomAD v4 |
22 | g.50720378G>T | CA515259096 | SHANK3 | c.2146G>T (p.Asp716Tyr) n.2730G>T c.1198G>T (p.Asp400Tyr) c.688G>T (p.Asp230Tyr) c.*1144G>T (n.*1144G>T) c.2542G>T (p.Asp848Tyr) c.2524G>T (p.Asp842Tyr) | gnomAD v4 |
22 | g.50720378dup | CA2819315440 | SHANK3 | c.2146dup (p.Asp716GlyfsTer?) n.2730dup c.1198dup (p.Asp400GlyfsTer?) c.688dup (p.Asp230GlyfsTer?) c.*1144dup (n.*1144dup) c.2542dup (p.Asp848GlyfsTer?) c.2524dup (p.Asp842GlyfsTer?) | |
22 | g.50720379A= | CA2411007588 | SHANK3 | c.2147A= (p.Asp716=) n.2731A= c.1199A= (p.Asp400=) c.689A= (p.Asp230=) c.*1145A= (n.*1145A=) c.2543A= (p.Asp848=) c.2525A= (p.Asp842=) | |
22 | g.50720379A>C | CA515259097 | SHANK3 | c.2147A>C (p.Asp716Ala) n.2731A>C c.1199A>C (p.Asp400Ala) c.689A>C (p.Asp230Ala) c.*1145A>C (n.*1145A>C) c.2543A>C (p.Asp848Ala) c.2525A>C (p.Asp842Ala) | |
22 | g.50720379A>G | CA515259099 | SHANK3 | c.2147A>G (p.Asp716Gly) n.2731A>G c.1199A>G (p.Asp400Gly) c.689A>G (p.Asp230Gly) c.*1145A>G (n.*1145A>G) c.2543A>G (p.Asp848Gly) c.2525A>G (p.Asp842Gly) | dbSNP gnomAD v4 |
22 | g.50720379A>T | CA515259098 | SHANK3 | c.2147A>T (p.Asp716Val) n.2731A>T c.1199A>T (p.Asp400Val) c.689A>T (p.Asp230Val) c.*1145A>T (n.*1145A>T) c.2543A>T (p.Asp848Val) c.2525A>T (p.Asp842Val) | gnomAD v4 |
22 | g.50720380C>A | CA515259100 | SHANK3 | c.2148C>A (p.Asp716Glu) n.2732C>A c.1200C>A (p.Asp400Glu) c.690C>A (p.Asp230Glu) c.*1146C>A (n.*1146C>A) c.2544C>A (p.Asp848Glu) c.2526C>A (p.Asp842Glu) | gnomAD v4 |
22 | g.50720380C>G | CA515259101 | SHANK3 | c.2148C>G (p.Asp716Glu) n.2732C>G c.1200C>G (p.Asp400Glu) c.690C>G (p.Asp230Glu) c.*1146C>G (n.*1146C>G) c.2544C>G (p.Asp848Glu) c.2526C>G (p.Asp842Glu) | gnomAD v4 |
22 | g.50720380C>T | CA515259102 | SHANK3 | c.2148C>T (p.Asp716=) n.2732C>T c.1200C>T (p.Asp400=) c.690C>T (p.Asp230=) c.*1146C>T (n.*1146C>T) c.2544C>T (p.Asp848=) c.2526C>T (p.Asp842=) | gnomAD v4 |
22 | g.50720381A>C | CA515259103 | SHANK3 | c.2149A>C (p.Thr717Pro) n.2733A>C c.1201A>C (p.Thr401Pro) c.691A>C (p.Thr231Pro) c.*1147A>C (n.*1147A>C) c.2545A>C (p.Thr849Pro) c.2527A>C (p.Thr843Pro) | gnomAD v4 |
22 | g.50720381A>G | CA515259104 | SHANK3 | c.2149A>G (p.Thr717Ala) n.2733A>G c.1201A>G (p.Thr401Ala) c.691A>G (p.Thr231Ala) c.*1147A>G (n.*1147A>G) c.2545A>G (p.Thr849Ala) c.2527A>G (p.Thr843Ala) | gnomAD v4 |
22 | g.50720381A>T | CA515259105 | SHANK3 | c.2149A>T (p.Thr717Ser) n.2733A>T c.1201A>T (p.Thr401Ser) c.691A>T (p.Thr231Ser) c.*1147A>T (n.*1147A>T) c.2545A>T (p.Thr849Ser) c.2527A>T (p.Thr843Ser) | gnomAD v4 |
22 | g.50720382C>A | CA515259106 | SHANK3 | c.2150C>A (p.Thr717Lys) n.2734C>A c.1202C>A (p.Thr401Lys) c.692C>A (p.Thr231Lys) c.*1148C>A (n.*1148C>A) c.2546C>A (p.Thr849Lys) c.2528C>A (p.Thr843Lys) | gnomAD v4 |
22 | g.50720382C>G | CA515259107 | SHANK3 | c.2150C>G (p.Thr717Arg) n.2734C>G c.1202C>G (p.Thr401Arg) c.692C>G (p.Thr231Arg) c.*1148C>G (n.*1148C>G) c.2546C>G (p.Thr849Arg) c.2528C>G (p.Thr843Arg) | |
22 | g.50720382C>T | CA515259108 | SHANK3 | c.2150C>T (p.Thr717Met) n.2734C>T c.1202C>T (p.Thr401Met) c.692C>T (p.Thr231Met) c.*1148C>T (n.*1148C>T) c.2546C>T (p.Thr849Met) c.2528C>T (p.Thr843Met) | gnomAD v4 |
22 | g.50720383G>A | CA515259109 | SHANK3 | c.2151G>A (p.Thr717=) n.2735G>A c.1203G>A (p.Thr401=) c.693G>A (p.Thr231=) c.*1149G>A (n.*1149G>A) c.2547G>A (p.Thr849=) c.2529G>A (p.Thr843=) | gnomAD v4 |
22 | g.50720383G>C | CA515259110 | SHANK3 | c.2151G>C (p.Thr717=) n.2735G>C c.1203G>C (p.Thr401=) c.693G>C (p.Thr231=) c.*1149G>C (n.*1149G>C) c.2547G>C (p.Thr849=) c.2529G>C (p.Thr843=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720383G= | CA2411007589 | SHANK3 | c.2151G= (p.Thr717=) n.2735G= c.1203G= (p.Thr401=) c.693G= (p.Thr231=) c.*1149G= (n.*1149G=) c.2547G= (p.Thr849=) c.2529G= (p.Thr843=) | |
22 | g.50720383G>T | CA515259111 | SHANK3 | c.2151G>T (p.Thr717=) n.2735G>T c.1203G>T (p.Thr401=) c.693G>T (p.Thr231=) c.*1149G>T (n.*1149G>T) c.2547G>T (p.Thr849=) c.2529G>T (p.Thr843=) | gnomAD v4 |
22 | g.50720384G>A | CA515259112 | SHANK3 | c.2152G>A (p.Val718Met) n.2736G>A c.1204G>A (p.Val402Met) c.694G>A (p.Val232Met) c.*1150G>A (n.*1150G>A) c.2548G>A (p.Val850Met) c.2530G>A (p.Val844Met) | gnomAD v4 |
22 | g.50720384G>C | CA325578061 | SHANK3 | c.2152G>C (p.Val718Leu) n.2736G>C c.1204G>C (p.Val402Leu) c.694G>C (p.Val232Leu) c.*1150G>C (n.*1150G>C) c.2548G>C (p.Val850Leu) c.2530G>C (p.Val844Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720384G= | CA2411007590 | SHANK3 | c.2152G= (p.Val718=) n.2736G= c.1204G= (p.Val402=) c.694G= (p.Val232=) c.*1150G= (n.*1150G=) c.2548G= (p.Val850=) c.2530G= (p.Val844=) | |
22 | g.50720384G>T | CA515259113 | SHANK3 | c.2152G>T (p.Val718Leu) n.2736G>T c.1204G>T (p.Val402Leu) c.694G>T (p.Val232Leu) c.*1150G>T (n.*1150G>T) c.2548G>T (p.Val850Leu) c.2530G>T (p.Val844Leu) | gnomAD v4 |
22 | g.50720385T>A | CA515259114 | SHANK3 | c.2153T>A (p.Val718Glu) n.2737T>A c.1205T>A (p.Val402Glu) c.695T>A (p.Val232Glu) c.*1151T>A (n.*1151T>A) c.2549T>A (p.Val850Glu) c.2531T>A (p.Val844Glu) | gnomAD v4 |
22 | g.50720385T>C | CA515259115 | SHANK3 | c.2153T>C (p.Val718Ala) n.2737T>C c.1205T>C (p.Val402Ala) c.695T>C (p.Val232Ala) c.*1151T>C (n.*1151T>C) c.2549T>C (p.Val850Ala) c.2531T>C (p.Val844Ala) | gnomAD v4 |
22 | g.50720385T>G | CA515259116 | SHANK3 | c.2153T>G (p.Val718Gly) n.2737T>G c.1205T>G (p.Val402Gly) c.695T>G (p.Val232Gly) c.*1151T>G (n.*1151T>G) c.2549T>G (p.Val850Gly) c.2531T>G (p.Val844Gly) | gnomAD v4 |
22 | g.50720386G>A | CA515259117 | SHANK3 | c.2154G>A (p.Val718=) n.2738G>A c.1206G>A (p.Val402=) c.696G>A (p.Val232=) c.*1152G>A (n.*1152G>A) c.2550G>A (p.Val850=) c.2532G>A (p.Val844=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720386G>C | CA515259118 | SHANK3 | c.2154G>C (p.Val718=) n.2738G>C c.1206G>C (p.Val402=) c.696G>C (p.Val232=) c.*1152G>C (n.*1152G>C) c.2550G>C (p.Val850=) c.2532G>C (p.Val844=) | gnomAD v4 |
22 | g.50720386G= | CA2411007591 | SHANK3 | c.2154G= (p.Val718=) n.2738G= c.1206G= (p.Val402=) c.696G= (p.Val232=) c.*1152G= (n.*1152G=) c.2550G= (p.Val850=) c.2532G= (p.Val844=) | |
22 | g.50720386G>T | CA515259119 | SHANK3 | c.2154G>T (p.Val718=) n.2738G>T c.1206G>T (p.Val402=) c.696G>T (p.Val232=) c.*1152G>T (n.*1152G>T) c.2550G>T (p.Val850=) c.2532G>T (p.Val844=) | gnomAD v4 |
22 | g.50720387C>A | CA515259120 | SHANK3 | c.2155C>A (p.Arg719Ser) n.2739C>A c.1207C>A (p.Arg403Ser) c.697C>A (p.Arg233Ser) c.*1153C>A (n.*1153C>A) c.2551C>A (p.Arg851Ser) c.2533C>A (p.Arg845Ser) | gnomAD v4 |
22 | g.50720387C>G | CA515259121 | SHANK3 | c.2155C>G (p.Arg719Gly) n.2739C>G c.1207C>G (p.Arg403Gly) c.697C>G (p.Arg233Gly) c.*1153C>G (n.*1153C>G) c.2551C>G (p.Arg851Gly) c.2533C>G (p.Arg845Gly) | gnomAD v4 |
22 | g.50720387C>T | CA515259122 | SHANK3 | c.2155C>T (p.Arg719Cys) n.2739C>T c.1207C>T (p.Arg403Cys) c.697C>T (p.Arg233Cys) c.*1153C>T (n.*1153C>T) c.2551C>T (p.Arg851Cys) c.2533C>T (p.Arg845Cys) | gnomAD v4 |
22 | g.50720387_50720388insCT | CA2657583087 | SHANK3 | c.2155_2156insCT (p.Arg719ProfsTer?) n.2739_2740insCT c.1207_1208insCT (p.Arg403ProfsTer?) c.697_698insCT (p.Arg233ProfsTer?) c.*1153_*1154insCT (n.*1153_*1154insCT) c.2551_2552insCT (p.Arg851ProfsTer?) c.2533_2534insCT (p.Arg845ProfsTer?) | gnomAD v4 |
22 | g.50720387_50720388insCAGTA | CA2819315456 | SHANK3 | c.2155_2156insCAGTA (p.Arg719ProfsTer?) n.2739_2740insCAGTA c.1207_1208insCAGTA (p.Arg403ProfsTer?) c.697_698insCAGTA (p.Arg233ProfsTer?) c.*1153_*1154insCAGTA (n.*1153_*1154insCAGTA) c.2551_2552insCAGTA (p.Arg851ProfsTer?) c.2533_2534insCAGTA (p.Arg845ProfsTer?) | |
22 | g.50720388G>A | CA515259123 | SHANK3 | c.2156G>A (p.Arg719His) n.2740G>A c.1208G>A (p.Arg403His) c.698G>A (p.Arg233His) c.*1154G>A (n.*1154G>A) c.2552G>A (p.Arg851His) c.2534G>A (p.Arg845His) | gnomAD v4 |
22 | g.50720388G>C | CA515259124 | SHANK3 | c.2156G>C (p.Arg719Pro) n.2740G>C c.1208G>C (p.Arg403Pro) c.698G>C (p.Arg233Pro) c.*1154G>C (n.*1154G>C) c.2552G>C (p.Arg851Pro) c.2534G>C (p.Arg845Pro) | gnomAD v4 |
22 | g.50720388G= | CA2411007592 | SHANK3 | c.2156G= (p.Arg719=) n.2740G= c.1208G= (p.Arg403=) c.698G= (p.Arg233=) c.*1154G= (n.*1154G=) c.2552G= (p.Arg851=) c.2534G= (p.Arg845=) | |
22 | g.50720388G>T | CA515259125 | SHANK3 | c.2156G>T (p.Arg719Leu) n.2740G>T c.1208G>T (p.Arg403Leu) c.698G>T (p.Arg233Leu) c.*1154G>T (n.*1154G>T) c.2552G>T (p.Arg851Leu) c.2534G>T (p.Arg845Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720388_50720389insTCTCTTATACACAT | CA2657583090 | SHANK3 | c.2156_2157insTCTCTTATACACAT (p.Ser720LeufsTer?) n.2740_2741insTCTCTTATACACAT c.1208_1209insTCTCTTATACACAT (p.Ser404LeufsTer?) c.698_699insTCTCTTATACACAT (p.Ser234LeufsTer?) c.*1154_*1155insTCTCTTATACACAT (n.*1154_*1155insTCTCTTATACACAT) c.2552_2553insTCTCTTATACACAT (p.Ser852LeufsTer?) c.2534_2535insTCTCTTATACACAT (p.Ser846LeufsTer?) | gnomAD v4 |
22 | g.50720389C>A | CA515259128 | SHANK3 | c.2157C>A (p.Arg719=) n.2741C>A c.1209C>A (p.Arg403=) c.699C>A (p.Arg233=) c.*1155C>A (n.*1155C>A) c.2553C>A (p.Arg851=) c.2535C>A (p.Arg845=) | gnomAD v4 |
22 | g.50720389C= | CA2411007593 | SHANK3 | c.2157C= (p.Arg719=) n.2741C= c.1209C= (p.Arg403=) c.699C= (p.Arg233=) c.*1155C= (n.*1155C=) c.2553C= (p.Arg851=) c.2535C= (p.Arg845=) | |
22 | g.50720389C>G | CA515259127 | SHANK3 | c.2157C>G (p.Arg719=) n.2741C>G c.1209C>G (p.Arg403=) c.699C>G (p.Arg233=) c.*1155C>G (n.*1155C>G) c.2553C>G (p.Arg851=) c.2535C>G (p.Arg845=) | gnomAD v4 |
22 | g.50720389C>T | CA515259126 | SHANK3 | c.2157C>T (p.Arg719=) n.2741C>T c.1209C>T (p.Arg403=) c.699C>T (p.Arg233=) c.*1155C>T (n.*1155C>T) c.2553C>T (p.Arg851=) c.2535C>T (p.Arg845=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720390T>A | CA515259129 | SHANK3 | c.2158T>A (p.Ser720Thr) n.2742T>A c.1210T>A (p.Ser404Thr) c.700T>A (p.Ser234Thr) c.*1156T>A (n.*1156T>A) c.2554T>A (p.Ser852Thr) c.2536T>A (p.Ser846Thr) | gnomAD v4 |
22 | g.50720390T>C | CA515259130 | SHANK3 | c.2158T>C (p.Ser720Pro) n.2742T>C c.1210T>C (p.Ser404Pro) c.700T>C (p.Ser234Pro) c.*1156T>C (n.*1156T>C) c.2554T>C (p.Ser852Pro) c.2536T>C (p.Ser846Pro) | gnomAD v4 |
22 | g.50720390T>G | CA515259131 | SHANK3 | c.2158T>G (p.Ser720Ala) n.2742T>G c.1210T>G (p.Ser404Ala) c.700T>G (p.Ser234Ala) c.*1156T>G (n.*1156T>G) c.2554T>G (p.Ser852Ala) c.2536T>G (p.Ser846Ala) | |
22 | g.50720391C>A | CA515259132 | SHANK3 | c.2159C>A (p.Ser720Tyr) n.2743C>A c.1211C>A (p.Ser404Tyr) c.701C>A (p.Ser234Tyr) c.*1157C>A (n.*1157C>A) c.2555C>A (p.Ser852Tyr) c.2537C>A (p.Ser846Tyr) | gnomAD v4 |
22 | g.50720391C>G | CA515259133 | SHANK3 | c.2159C>G (p.Ser720Cys) n.2743C>G c.1211C>G (p.Ser404Cys) c.701C>G (p.Ser234Cys) c.*1157C>G (n.*1157C>G) c.2555C>G (p.Ser852Cys) c.2537C>G (p.Ser846Cys) | gnomAD v4 |
22 | g.50720391C>T | CA515259134 | SHANK3 | c.2159C>T (p.Ser720Phe) n.2743C>T c.1211C>T (p.Ser404Phe) c.701C>T (p.Ser234Phe) c.*1157C>T (n.*1157C>T) c.2555C>T (p.Ser852Phe) c.2537C>T (p.Ser846Phe) | gnomAD v4 |
22 | g.50720392del | CA2657583099 | SHANK3 | c.2160del (p.Ser721AlafsTer?) n.2744del c.1212del (p.Ser405AlafsTer?) c.702del (p.Ser235AlafsTer?) c.*1158del (n.*1158del) c.2556del (p.Ser853AlafsTer?) c.2538del (p.Ser847AlafsTer?) | gnomAD v4 |
22 | g.50720392C>A | CA515259135 | SHANK3 | c.2160C>A (p.Ser720=) n.2744C>A c.1212C>A (p.Ser404=) c.702C>A (p.Ser234=) c.*1158C>A (n.*1158C>A) c.2556C>A (p.Ser852=) c.2538C>A (p.Ser846=) | gnomAD v4 |
22 | g.50720392C= | CA2411007594 | SHANK3 | c.2160C= (p.Ser720=) n.2744C= c.1212C= (p.Ser404=) c.702C= (p.Ser234=) c.*1158C= (n.*1158C=) c.2556C= (p.Ser852=) c.2538C= (p.Ser846=) | |
22 | g.50720392C>G | CA515259136 | SHANK3 | c.2160C>G (p.Ser720=) n.2744C>G c.1212C>G (p.Ser404=) c.702C>G (p.Ser234=) c.*1158C>G (n.*1158C>G) c.2556C>G (p.Ser852=) c.2538C>G (p.Ser846=) | gnomAD v4 |
22 | g.50720392C>T | CA325578062 | SHANK3 | c.2160C>T (p.Ser720=) n.2744C>T c.1212C>T (p.Ser404=) c.702C>T (p.Ser234=) c.*1158C>T (n.*1158C>T) c.2556C>T (p.Ser852=) c.2538C>T (p.Ser846=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720393A= | CA2411007595 | SHANK3 | c.2161A= (p.Ser721=) n.2745A= c.1213A= (p.Ser405=) c.703A= (p.Ser235=) c.*1159A= (n.*1159A=) c.2557A= (p.Ser853=) c.2539A= (p.Ser847=) | |
22 | g.50720393A>C | CA515259137 | SHANK3 | c.2161A>C (p.Ser721Arg) n.2745A>C c.1213A>C (p.Ser405Arg) c.703A>C (p.Ser235Arg) c.*1159A>C (n.*1159A>C) c.2557A>C (p.Ser853Arg) c.2539A>C (p.Ser847Arg) | gnomAD v4 |
22 | g.50720393A>G | CA515259138 | SHANK3 | c.2161A>G (p.Ser721Gly) n.2745A>G c.1213A>G (p.Ser405Gly) c.703A>G (p.Ser235Gly) c.*1159A>G (n.*1159A>G) c.2557A>G (p.Ser853Gly) c.2539A>G (p.Ser847Gly) | gnomAD v4 |
22 | g.50720393A>T | CA325578064 | SHANK3 | c.2161A>T (p.Ser721Cys) n.2745A>T c.1213A>T (p.Ser405Cys) c.703A>T (p.Ser235Cys) c.*1159A>T (n.*1159A>T) c.2557A>T (p.Ser853Cys) c.2539A>T (p.Ser847Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720394G>A | CA515259139 | SHANK3 | c.2162G>A (p.Ser721Asn) n.2746G>A c.1214G>A (p.Ser405Asn) c.704G>A (p.Ser235Asn) c.*1160G>A (n.*1160G>A) c.2558G>A (p.Ser853Asn) c.2540G>A (p.Ser847Asn) | gnomAD v4 |
22 | g.50720394G>C | CA515259141 | SHANK3 | c.2162G>C (p.Ser721Thr) n.2746G>C c.1214G>C (p.Ser405Thr) c.704G>C (p.Ser235Thr) c.*1160G>C (n.*1160G>C) c.2558G>C (p.Ser853Thr) c.2540G>C (p.Ser847Thr) | gnomAD v4 |
22 | g.50720394G>T | CA515259140 | SHANK3 | c.2162G>T (p.Ser721Ile) n.2746G>T c.1214G>T (p.Ser405Ile) c.704G>T (p.Ser235Ile) c.*1160G>T (n.*1160G>T) c.2558G>T (p.Ser853Ile) c.2540G>T (p.Ser847Ile) | gnomAD v4 |
22 | g.50720395C>A | CA515259142 | SHANK3 | c.2163C>A (p.Ser721Arg) n.2747C>A c.1215C>A (p.Ser405Arg) c.705C>A (p.Ser235Arg) c.*1161C>A (n.*1161C>A) c.2559C>A (p.Ser853Arg) c.2541C>A (p.Ser847Arg) | gnomAD v4 |
22 | g.50720395C= | CA2411007596 | SHANK3 | c.2163C= (p.Ser721=) n.2747C= c.1215C= (p.Ser405=) c.705C= (p.Ser235=) c.*1161C= (n.*1161C=) c.2559C= (p.Ser853=) c.2541C= (p.Ser847=) | |
22 | g.50720395C>G | CA515259144 | SHANK3 | c.2163C>G (p.Ser721Arg) n.2747C>G c.1215C>G (p.Ser405Arg) c.705C>G (p.Ser235Arg) c.*1161C>G (n.*1161C>G) c.2559C>G (p.Ser853Arg) c.2541C>G (p.Ser847Arg) | gnomAD v4 |
22 | g.50720395C>T | CA515259143 | SHANK3 | c.2163C>T (p.Ser721=) n.2747C>T c.1215C>T (p.Ser405=) c.705C>T (p.Ser235=) c.*1161C>T (n.*1161C>T) c.2559C>T (p.Ser853=) c.2541C>T (p.Ser847=) | dbSNP gnomAD v4 |
22 | g.50720396T>A | CA515259145 | SHANK3 | c.2164T>A (p.Phe722Ile) n.2748T>A c.1216T>A (p.Phe406Ile) c.706T>A (p.Phe236Ile) c.*1162T>A (n.*1162T>A) c.2560T>A (p.Phe854Ile) c.2542T>A (p.Phe848Ile) | gnomAD v4 |
22 | g.50720396T>C | CA515259146 | SHANK3 | c.2164T>C (p.Phe722Leu) n.2748T>C c.1216T>C (p.Phe406Leu) c.706T>C (p.Phe236Leu) c.*1162T>C (n.*1162T>C) c.2560T>C (p.Phe854Leu) c.2542T>C (p.Phe848Leu) | gnomAD v4 |
22 | g.50720396T>G | CA515259147 | SHANK3 | c.2164T>G (p.Phe722Val) n.2748T>G c.1216T>G (p.Phe406Val) c.706T>G (p.Phe236Val) c.*1162T>G (n.*1162T>G) c.2560T>G (p.Phe854Val) c.2542T>G (p.Phe848Val) | gnomAD v4 |
22 | g.50720397T>A | CA515259148 | SHANK3 | c.2165T>A (p.Phe722Tyr) n.2749T>A c.1217T>A (p.Phe406Tyr) c.707T>A (p.Phe236Tyr) c.*1163T>A (n.*1163T>A) c.2561T>A (p.Phe854Tyr) c.2543T>A (p.Phe848Tyr) | |
22 | g.50720397T>C | CA515259149 | SHANK3 | c.2165T>C (p.Phe722Ser) n.2749T>C c.1217T>C (p.Phe406Ser) c.707T>C (p.Phe236Ser) c.*1163T>C (n.*1163T>C) c.2561T>C (p.Phe854Ser) c.2543T>C (p.Phe848Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720397T>G | CA515259150 | SHANK3 | c.2165T>G (p.Phe722Cys) n.2749T>G c.1217T>G (p.Phe406Cys) c.707T>G (p.Phe236Cys) c.*1163T>G (n.*1163T>G) c.2561T>G (p.Phe854Cys) c.2543T>G (p.Phe848Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720397T= | CA2411007597 | SHANK3 | c.2165T= (p.Phe722=) n.2749T= c.1217T= (p.Phe406=) c.707T= (p.Phe236=) c.*1163T= (n.*1163T=) c.2561T= (p.Phe854=) c.2543T= (p.Phe848=) | |
22 | g.50720398C>A | CA515259151 | SHANK3 | c.2166C>A (p.Phe722Leu) n.2750C>A c.1218C>A (p.Phe406Leu) c.708C>A (p.Phe236Leu) c.*1164C>A (n.*1164C>A) c.2562C>A (p.Phe854Leu) c.2544C>A (p.Phe848Leu) | gnomAD v4 |
22 | g.50720398C>G | CA515259152 | SHANK3 | c.2166C>G (p.Phe722Leu) n.2750C>G c.1218C>G (p.Phe406Leu) c.708C>G (p.Phe236Leu) c.*1164C>G (n.*1164C>G) c.2562C>G (p.Phe854Leu) c.2544C>G (p.Phe848Leu) | gnomAD v4 |
22 | g.50720398C>T | CA515259153 | SHANK3 | c.2166C>T (p.Phe722=) n.2750C>T c.1218C>T (p.Phe406=) c.708C>T (p.Phe236=) c.*1164C>T (n.*1164C>T) c.2562C>T (p.Phe854=) c.2544C>T (p.Phe848=) | ClinVar gnomAD v4 |
22 | g.50720399A>C | CA515259154 | SHANK3 | c.2167A>C (p.Lys723Gln) n.2751A>C c.1219A>C (p.Lys407Gln) c.709A>C (p.Lys237Gln) c.*1165A>C (n.*1165A>C) c.2563A>C (p.Lys855Gln) c.2545A>C (p.Lys849Gln) | dbSNP |
22 | g.50720399A>G | CA515259155 | SHANK3 | c.2167A>G (p.Lys723Glu) n.2751A>G c.1219A>G (p.Lys407Glu) c.709A>G (p.Lys237Glu) c.*1165A>G (n.*1165A>G) c.2563A>G (p.Lys855Glu) c.2545A>G (p.Lys849Glu) | gnomAD v4 |
22 | g.50720399A>T | CA515259156 | SHANK3 | c.2167A>T (p.Lys723Ter) n.2751A>T c.1219A>T (p.Lys407Ter) c.709A>T (p.Lys237Ter) c.*1165A>T (n.*1165A>T) c.2563A>T (p.Lys855Ter) c.2545A>T (p.Lys849Ter) | gnomAD v4 |
22 | g.50720400A= | CA2411007598 | SHANK3 | c.2168A= (p.Lys723=) n.2752A= c.1220A= (p.Lys407=) c.710A= (p.Lys237=) c.*1166A= (n.*1166A=) c.2564A= (p.Lys855=) c.2546A= (p.Lys849=) | |
22 | g.50720400A>C | CA515259157 | SHANK3 | c.2168A>C (p.Lys723Thr) n.2752A>C c.1220A>C (p.Lys407Thr) c.710A>C (p.Lys237Thr) c.*1166A>C (n.*1166A>C) c.2564A>C (p.Lys855Thr) c.2546A>C (p.Lys849Thr) | gnomAD v4 |
22 | g.50720400A>G | CA515259159 | SHANK3 | c.2168A>G (p.Lys723Arg) n.2752A>G c.1220A>G (p.Lys407Arg) c.710A>G (p.Lys237Arg) c.*1166A>G (n.*1166A>G) c.2564A>G (p.Lys855Arg) c.2546A>G (p.Lys849Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720400A>T | CA515259158 | SHANK3 | c.2168A>T (p.Lys723Met) n.2752A>T c.1220A>T (p.Lys407Met) c.710A>T (p.Lys237Met) c.*1166A>T (n.*1166A>T) c.2564A>T (p.Lys855Met) c.2546A>T (p.Lys849Met) | gnomAD v4 |
22 | g.50720401G>A | CA515259160 | SHANK3 | c.2169G>A (p.Lys723=) n.2753G>A c.1221G>A (p.Lys407=) c.711G>A (p.Lys237=) c.*1167G>A (n.*1167G>A) c.2565G>A (p.Lys855=) c.2547G>A (p.Lys849=) | gnomAD v4 |
22 | g.50720401G>C | CA515259161 | SHANK3 | c.2169G>C (p.Lys723Asn) n.2753G>C c.1221G>C (p.Lys407Asn) c.711G>C (p.Lys237Asn) c.*1167G>C (n.*1167G>C) c.2565G>C (p.Lys855Asn) c.2547G>C (p.Lys849Asn) | |
22 | g.50720401G= | CA2411007599 | SHANK3 | c.2169G= (p.Lys723=) n.2753G= c.1221G= (p.Lys407=) c.711G= (p.Lys237=) c.*1167G= (n.*1167G=) c.2565G= (p.Lys855=) c.2547G= (p.Lys849=) | |
22 | g.50720401G>T | CA515259162 | SHANK3 | c.2169G>T (p.Lys723Asn) n.2753G>T c.1221G>T (p.Lys407Asn) c.711G>T (p.Lys237Asn) c.*1167G>T (n.*1167G>T) c.2565G>T (p.Lys855Asn) c.2547G>T (p.Lys849Asn) | dbSNP gnomAD v4 |
22 | g.50720402C>A | CA515259163 | SHANK3 | c.2170C>A (p.Pro724Thr) n.2754C>A c.1222C>A (p.Pro408Thr) c.712C>A (p.Pro238Thr) c.*1168C>A (n.*1168C>A) c.2566C>A (p.Pro856Thr) c.2548C>A (p.Pro850Thr) | gnomAD v4 |
22 | g.50720402C>G | CA515259164 | SHANK3 | c.2170C>G (p.Pro724Ala) n.2754C>G c.1222C>G (p.Pro408Ala) c.712C>G (p.Pro238Ala) c.*1168C>G (n.*1168C>G) c.2566C>G (p.Pro856Ala) c.2548C>G (p.Pro850Ala) | |
22 | g.50720402C>T | CA515259165 | SHANK3 | c.2170C>T (p.Pro724Ser) n.2754C>T c.1222C>T (p.Pro408Ser) c.712C>T (p.Pro238Ser) c.*1168C>T (n.*1168C>T) c.2566C>T (p.Pro856Ser) c.2548C>T (p.Pro850Ser) | gnomAD v4 |
22 | g.50720404del | CA2657583119 | SHANK3 | c.2172del (p.Gly725AlafsTer?) n.2756del c.1224del (p.Gly409AlafsTer?) c.714del (p.Gly239AlafsTer?) c.*1170del (n.*1170del) c.2568del (p.Gly857AlafsTer?) c.2550del (p.Gly851AlafsTer?) | gnomAD v4 |
22 | g.50720403C>A | CA515259166 | SHANK3 | c.2171C>A (p.Pro724His) n.2755C>A c.1223C>A (p.Pro408His) c.713C>A (p.Pro238His) c.*1169C>A (n.*1169C>A) c.2567C>A (p.Pro856His) c.2549C>A (p.Pro850His) | gnomAD v4 |
22 | g.50720403C= | CA2411007600 | SHANK3 | c.2171C= (p.Pro724=) n.2755C= c.1223C= (p.Pro408=) c.713C= (p.Pro238=) c.*1169C= (n.*1169C=) c.2567C= (p.Pro856=) c.2549C= (p.Pro850=) | |
22 | g.50720403C>G | CA515259167 | SHANK3 | c.2171C>G (p.Pro724Arg) n.2755C>G c.1223C>G (p.Pro408Arg) c.713C>G (p.Pro238Arg) c.*1169C>G (n.*1169C>G) c.2567C>G (p.Pro856Arg) c.2549C>G (p.Pro850Arg) | dbSNP |
22 | g.50720403C>T | CA515259168 | SHANK3 | c.2171C>T (p.Pro724Leu) n.2755C>T c.1223C>T (p.Pro408Leu) c.713C>T (p.Pro238Leu) c.*1169C>T (n.*1169C>T) c.2567C>T (p.Pro856Leu) c.2549C>T (p.Pro850Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720404C>A | CA515259171 | SHANK3 | c.2172C>A (p.Pro724=) n.2756C>A c.1224C>A (p.Pro408=) c.714C>A (p.Pro238=) c.*1170C>A (n.*1170C>A) c.2568C>A (p.Pro856=) c.2550C>A (p.Pro850=) | gnomAD v4 |
22 | g.50720404C>G | CA515259170 | SHANK3 | c.2172C>G (p.Pro724=) n.2756C>G c.1224C>G (p.Pro408=) c.714C>G (p.Pro238=) c.*1170C>G (n.*1170C>G) c.2568C>G (p.Pro856=) c.2550C>G (p.Pro850=) | gnomAD v4 |
22 | g.50720404C>T | CA515259169 | SHANK3 | c.2172C>T (p.Pro724=) n.2756C>T c.1224C>T (p.Pro408=) c.714C>T (p.Pro238=) c.*1170C>T (n.*1170C>T) c.2568C>T (p.Pro856=) c.2550C>T (p.Pro850=) | gnomAD v4 |
22 | g.50720405G>A | CA515259172 | SHANK3 | c.2173G>A (p.Gly725Ser) n.2757G>A c.1225G>A (p.Gly409Ser) c.715G>A (p.Gly239Ser) c.*1171G>A (n.*1171G>A) c.2569G>A (p.Gly857Ser) c.2551G>A (p.Gly851Ser) | dbSNP gnomAD v4 |
22 | g.50720405G>C | CA515259173 | SHANK3 | c.2173G>C (p.Gly725Arg) n.2757G>C c.1225G>C (p.Gly409Arg) c.715G>C (p.Gly239Arg) c.*1171G>C (n.*1171G>C) c.2569G>C (p.Gly857Arg) c.2551G>C (p.Gly851Arg) | gnomAD v4 |
22 | g.50720405G= | CA2411007601 | SHANK3 | c.2173G= (p.Gly725=) n.2757G= c.1225G= (p.Gly409=) c.715G= (p.Gly239=) c.*1171G= (n.*1171G=) c.2569G= (p.Gly857=) c.2551G= (p.Gly851=) | |
22 | g.50720405G>T | CA515259174 | SHANK3 | c.2173G>T (p.Gly725Cys) n.2757G>T c.1225G>T (p.Gly409Cys) c.715G>T (p.Gly239Cys) c.*1171G>T (n.*1171G>T) c.2569G>T (p.Gly857Cys) c.2551G>T (p.Gly851Cys) | gnomAD v4 |
22 | g.50720405_50720406del | CA2657583122 | SHANK3 | c.2173_2174del (p.Gly725ProfsTer?) n.2757_2758del c.1225_1226del (p.Gly409ProfsTer?) c.715_716del (p.Gly239ProfsTer?) c.*1171_*1172del (n.*1171_*1172del) c.2569_2570del (p.Gly857ProfsTer?) c.2551_2552del (p.Gly851ProfsTer?) | gnomAD v4 |
22 | g.50720406G>A | CA515259175 | SHANK3 | c.2174G>A (p.Gly725Asp) n.2758G>A c.1226G>A (p.Gly409Asp) c.716G>A (p.Gly239Asp) c.*1172G>A (n.*1172G>A) c.2570G>A (p.Gly857Asp) c.2552G>A (p.Gly851Asp) | gnomAD v4 |
22 | g.50720406G>C | CA515259176 | SHANK3 | c.2174G>C (p.Gly725Ala) n.2758G>C c.1226G>C (p.Gly409Ala) c.716G>C (p.Gly239Ala) c.*1172G>C (n.*1172G>C) c.2570G>C (p.Gly857Ala) c.2552G>C (p.Gly851Ala) | gnomAD v4 |
22 | g.50720406G>T | CA515259177 | SHANK3 | c.2174G>T (p.Gly725Val) n.2758G>T c.1226G>T (p.Gly409Val) c.716G>T (p.Gly239Val) c.*1172G>T (n.*1172G>T) c.2570G>T (p.Gly857Val) c.2552G>T (p.Gly851Val) | gnomAD v4 |
22 | g.50720407C>A | CA515259178 | SHANK3 | c.2175C>A (p.Gly725=) n.2759C>A c.1227C>A (p.Gly409=) c.717C>A (p.Gly239=) c.*1173C>A (n.*1173C>A) c.2571C>A (p.Gly857=) c.2553C>A (p.Gly851=) | gnomAD v4 |
22 | g.50720407C= | CA2411007602 | SHANK3 | c.2175C= (p.Gly725=) n.2759C= c.1227C= (p.Gly409=) c.717C= (p.Gly239=) c.*1173C= (n.*1173C=) c.2571C= (p.Gly857=) c.2553C= (p.Gly851=) | |
22 | g.50720407C>G | CA515259179 | SHANK3 | c.2175C>G (p.Gly725=) n.2759C>G c.1227C>G (p.Gly409=) c.717C>G (p.Gly239=) c.*1173C>G (n.*1173C>G) c.2571C>G (p.Gly857=) c.2553C>G (p.Gly851=) | gnomAD v4 |
22 | g.50720407C>T | CA325578069 | SHANK3 | c.2175C>T (p.Gly725=) n.2759C>T c.1227C>T (p.Gly409=) c.717C>T (p.Gly239=) c.*1173C>T (n.*1173C>T) c.2571C>T (p.Gly857=) c.2553C>T (p.Gly851=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720408del | CA2819315468 | SHANK3 | c.2176del (p.Leu726TrpfsTer?) n.2760del c.1228del (p.Leu410TrpfsTer?) c.718del (p.Leu240TrpfsTer?) c.*1174del (n.*1174del) c.2572del (p.Leu858TrpfsTer?) c.2554del (p.Leu852TrpfsTer?) | |
22 | g.50720408C>A | CA515259180 | SHANK3 | c.2176C>A (p.Leu726Met) n.2760C>A c.1228C>A (p.Leu410Met) c.718C>A (p.Leu240Met) c.*1174C>A (n.*1174C>A) c.2572C>A (p.Leu858Met) c.2554C>A (p.Leu852Met) | gnomAD v4 |
22 | g.50720408C= | CA2411007603 | SHANK3 | c.2176C= (p.Leu726=) n.2760C= c.1228C= (p.Leu410=) c.718C= (p.Leu240=) c.*1174C= (n.*1174C=) c.2572C= (p.Leu858=) c.2554C= (p.Leu852=) | |
22 | g.50720408C>G | CA515259181 | SHANK3 | c.2176C>G (p.Leu726Val) n.2760C>G c.1228C>G (p.Leu410Val) c.718C>G (p.Leu240Val) c.*1174C>G (n.*1174C>G) c.2572C>G (p.Leu858Val) c.2554C>G (p.Leu852Val) | gnomAD v4 |
22 | g.50720408C>T | CA515259182 | SHANK3 | c.2176C>T (p.Leu726=) n.2760C>T c.1228C>T (p.Leu410=) c.718C>T (p.Leu240=) c.*1174C>T (n.*1174C>T) c.2572C>T (p.Leu858=) c.2554C>T (p.Leu852=) | dbSNP gnomAD v4 |
22 | g.50720409T>A | CA515259185 | SHANK3 | c.2177T>A (p.Leu726Gln) n.2761T>A c.1229T>A (p.Leu410Gln) c.719T>A (p.Leu240Gln) c.*1175T>A (n.*1175T>A) c.2573T>A (p.Leu858Gln) c.2555T>A (p.Leu852Gln) | gnomAD v4 |
22 | g.50720409T>C | CA515259183 | SHANK3 | c.2177T>C (p.Leu726Pro) n.2761T>C c.1229T>C (p.Leu410Pro) c.719T>C (p.Leu240Pro) c.*1175T>C (n.*1175T>C) c.2573T>C (p.Leu858Pro) c.2555T>C (p.Leu852Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720409T>G | CA515259184 | SHANK3 | c.2177T>G (p.Leu726Arg) n.2761T>G c.1229T>G (p.Leu410Arg) c.719T>G (p.Leu240Arg) c.*1175T>G (n.*1175T>G) c.2573T>G (p.Leu858Arg) c.2555T>G (p.Leu852Arg) | |
22 | g.50720409T= | CA2411007604 | SHANK3 | c.2177T= (p.Leu726=) n.2761T= c.1229T= (p.Leu410=) c.719T= (p.Leu240=) c.*1175T= (n.*1175T=) c.2573T= (p.Leu858=) c.2555T= (p.Leu852=) | |
22 | g.50720410G>A | CA515259186 | SHANK3 | c.2178G>A (p.Leu726=) n.2762G>A c.1230G>A (p.Leu410=) c.720G>A (p.Leu240=) c.*1176G>A (n.*1176G>A) c.2574G>A (p.Leu858=) c.2556G>A (p.Leu852=) | gnomAD v4 |
22 | g.50720410G>C | CA515259187 | SHANK3 | c.2178G>C (p.Leu726=) n.2762G>C c.1230G>C (p.Leu410=) c.720G>C (p.Leu240=) c.*1176G>C (n.*1176G>C) c.2574G>C (p.Leu858=) c.2556G>C (p.Leu852=) | gnomAD v4 |
22 | g.50720410G>T | CA515259188 | SHANK3 | c.2178G>T (p.Leu726=) n.2762G>T c.1230G>T (p.Leu410=) c.720G>T (p.Leu240=) c.*1176G>T (n.*1176G>T) c.2574G>T (p.Leu858=) c.2556G>T (p.Leu852=) | gnomAD v4 |
22 | g.50720411del | CA2657583124 | SHANK3 | c.2179del (p.Glu727ArgfsTer?) n.2763del c.1231del (p.Glu411ArgfsTer?) c.721del (p.Glu241ArgfsTer?) c.*1177del (n.*1177del) c.2575del (p.Glu859ArgfsTer?) c.2557del (p.Glu853ArgfsTer?) | gnomAD v4 |
22 | g.50720411G>A | CA515259189 | SHANK3 | c.2179G>A (p.Glu727Lys) n.2763G>A c.1231G>A (p.Glu411Lys) c.721G>A (p.Glu241Lys) c.*1177G>A (n.*1177G>A) c.2575G>A (p.Glu859Lys) c.2557G>A (p.Glu853Lys) | gnomAD v4 |
22 | g.50720411G>C | CA515259190 | SHANK3 | c.2179G>C (p.Glu727Gln) n.2763G>C c.1231G>C (p.Glu411Gln) c.721G>C (p.Glu241Gln) c.*1177G>C (n.*1177G>C) c.2575G>C (p.Glu859Gln) c.2557G>C (p.Glu853Gln) | |
22 | g.50720411G>T | CA515259191 | SHANK3 | c.2179G>T (p.Glu727Ter) n.2763G>T c.1231G>T (p.Glu411Ter) c.721G>T (p.Glu241Ter) c.*1177G>T (n.*1177G>T) c.2575G>T (p.Glu859Ter) c.2557G>T (p.Glu853Ter) | gnomAD v4 |
22 | g.50720412del | CA2657583125 | SHANK3 | c.2180del (p.Glu727GlyfsTer?) n.2764del c.1232del (p.Glu411GlyfsTer?) c.722del (p.Glu241GlyfsTer?) c.*1178del (n.*1178del) c.2576del (p.Glu859GlyfsTer?) c.2558del (p.Glu853GlyfsTer?) | gnomAD v4 |
22 | g.50720412A>C | CA515259192 | SHANK3 | c.2180A>C (p.Glu727Ala) n.2764A>C c.1232A>C (p.Glu411Ala) c.722A>C (p.Glu241Ala) c.*1178A>C (n.*1178A>C) c.2576A>C (p.Glu859Ala) c.2558A>C (p.Glu853Ala) | |
22 | g.50720412A>G | CA515259193 | SHANK3 | c.2180A>G (p.Glu727Gly) n.2764A>G c.1232A>G (p.Glu411Gly) c.722A>G (p.Glu241Gly) c.*1178A>G (n.*1178A>G) c.2576A>G (p.Glu859Gly) c.2558A>G (p.Glu853Gly) | gnomAD v4 |
22 | g.50720412A>T | CA515259194 | SHANK3 | c.2180A>T (p.Glu727Val) n.2764A>T c.1232A>T (p.Glu411Val) c.722A>T (p.Glu241Val) c.*1178A>T (n.*1178A>T) c.2576A>T (p.Glu859Val) c.2558A>T (p.Glu853Val) | gnomAD v4 |
22 | g.50720413G>A | CA515259195 | SHANK3 | c.2181G>A (p.Glu727=) n.2765G>A c.1233G>A (p.Glu411=) c.723G>A (p.Glu241=) c.*1179G>A (n.*1179G>A) c.2577G>A (p.Glu859=) c.2559G>A (p.Glu853=) | gnomAD v4 |
22 | g.50720413G>C | CA515259196 | SHANK3 | c.2181G>C (p.Glu727Asp) n.2765G>C c.1233G>C (p.Glu411Asp) c.723G>C (p.Glu241Asp) c.*1179G>C (n.*1179G>C) c.2577G>C (p.Glu859Asp) c.2559G>C (p.Glu853Asp) | |
22 | g.50720413G>T | CA515259197 | SHANK3 | c.2181G>T (p.Glu727Asp) n.2765G>T c.1233G>T (p.Glu411Asp) c.723G>T (p.Glu241Asp) c.*1179G>T (n.*1179G>T) c.2577G>T (p.Glu859Asp) c.2559G>T (p.Glu853Asp) | gnomAD v4 |
22 | g.50720414G>A | CA515259199 | SHANK3 | c.2182G>A (p.Ala728Thr) n.2766G>A c.1234G>A (p.Ala412Thr) c.724G>A (p.Ala242Thr) c.*1180G>A (n.*1180G>A) c.2578G>A (p.Ala860Thr) c.2560G>A (p.Ala854Thr) | dbSNP gnomAD v4 |
22 | g.50720414G>C | CA515259200 | SHANK3 | c.2182G>C (p.Ala728Pro) n.2766G>C c.1234G>C (p.Ala412Pro) c.724G>C (p.Ala242Pro) c.*1180G>C (n.*1180G>C) c.2578G>C (p.Ala860Pro) c.2560G>C (p.Ala854Pro) | gnomAD v4 |
22 | g.50720414G= | CA2411007605 | SHANK3 | c.2182G= (p.Ala728=) n.2766G= c.1234G= (p.Ala412=) c.724G= (p.Ala242=) c.*1180G= (n.*1180G=) c.2578G= (p.Ala860=) c.2560G= (p.Ala854=) | |
22 | g.50720414G>T | CA515259198 | SHANK3 | c.2182G>T (p.Ala728Ser) n.2766G>T c.1234G>T (p.Ala412Ser) c.724G>T (p.Ala242Ser) c.*1180G>T (n.*1180G>T) c.2578G>T (p.Ala860Ser) c.2560G>T (p.Ala854Ser) | gnomAD v4 |
22 | g.50720415C>A | CA515259202 | SHANK3 | c.2183C>A (p.Ala728Glu) n.2767C>A c.1235C>A (p.Ala412Glu) c.725C>A (p.Ala242Glu) c.*1181C>A (n.*1181C>A) c.2579C>A (p.Ala860Glu) c.2561C>A (p.Ala854Glu) | gnomAD v4 |
22 | g.50720415C>G | CA515259201 | SHANK3 | c.2183C>G (p.Ala728Gly) n.2767C>G c.1235C>G (p.Ala412Gly) c.725C>G (p.Ala242Gly) c.*1181C>G (n.*1181C>G) c.2579C>G (p.Ala860Gly) c.2561C>G (p.Ala854Gly) | gnomAD v4 |
22 | g.50720415C>T | CA515259203 | SHANK3 | c.2183C>T (p.Ala728Val) n.2767C>T c.1235C>T (p.Ala412Val) c.725C>T (p.Ala242Val) c.*1181C>T (n.*1181C>T) c.2579C>T (p.Ala860Val) c.2561C>T (p.Ala854Val) | gnomAD v4 |
22 | g.50720416G>A | CA515259204 | SHANK3 | c.2184G>A (p.Ala728=) n.2768G>A c.1236G>A (p.Ala412=) c.726G>A (p.Ala242=) c.*1182G>A (n.*1182G>A) c.2580G>A (p.Ala860=) c.2562G>A (p.Ala854=) | gnomAD v4 |
22 | g.50720416G>C | CA515259205 | SHANK3 | c.2184G>C (p.Ala728=) n.2768G>C c.1236G>C (p.Ala412=) c.726G>C (p.Ala242=) c.*1182G>C (n.*1182G>C) c.2580G>C (p.Ala860=) c.2562G>C (p.Ala854=) | gnomAD v4 |
22 | g.50720416G>T | CA515259206 | SHANK3 | c.2184G>T (p.Ala728=) n.2768G>T c.1236G>T (p.Ala412=) c.726G>T (p.Ala242=) c.*1182G>T (n.*1182G>T) c.2580G>T (p.Ala860=) c.2562G>T (p.Ala854=) | gnomAD v4 |
22 | g.50720417C>A | CA515259207 | SHANK3 | c.2185C>A (p.Arg729Ser) n.2769C>A c.1237C>A (p.Arg413Ser) c.727C>A (p.Arg243Ser) c.*1183C>A (n.*1183C>A) c.2581C>A (p.Arg861Ser) c.2563C>A (p.Arg855Ser) | gnomAD v4 |
22 | g.50720417C>G | CA515259208 | SHANK3 | c.2185C>G (p.Arg729Gly) n.2769C>G c.1237C>G (p.Arg413Gly) c.727C>G (p.Arg243Gly) c.*1183C>G (n.*1183C>G) c.2581C>G (p.Arg861Gly) c.2563C>G (p.Arg855Gly) | gnomAD v4 |
22 | g.50720417C>T | CA515259209 | SHANK3 | c.2185C>T (p.Arg729Cys) n.2769C>T c.1237C>T (p.Arg413Cys) c.727C>T (p.Arg243Cys) c.*1183C>T (n.*1183C>T) c.2581C>T (p.Arg861Cys) c.2563C>T (p.Arg855Cys) | gnomAD v4 |
22 | g.50720418G>A | CA515259210 | SHANK3 | c.2186G>A (p.Arg729His) n.2770G>A c.1238G>A (p.Arg413His) c.728G>A (p.Arg243His) c.*1184G>A (n.*1184G>A) c.2582G>A (p.Arg861His) c.2564G>A (p.Arg855His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720418G>C | CA515259211 | SHANK3 | c.2186G>C (p.Arg729Pro) n.2770G>C c.1238G>C (p.Arg413Pro) c.728G>C (p.Arg243Pro) c.*1184G>C (n.*1184G>C) c.2582G>C (p.Arg861Pro) c.2564G>C (p.Arg855Pro) | gnomAD v4 |
22 | g.50720418G= | CA2411007606 | SHANK3 | c.2186G= (p.Arg729=) n.2770G= c.1238G= (p.Arg413=) c.728G= (p.Arg243=) c.*1184G= (n.*1184G=) c.2582G= (p.Arg861=) c.2564G= (p.Arg855=) | |
22 | g.50720418G>T | CA515259212 | SHANK3 | c.2186G>T (p.Arg729Leu) n.2770G>T c.1238G>T (p.Arg413Leu) c.728G>T (p.Arg243Leu) c.*1184G>T (n.*1184G>T) c.2582G>T (p.Arg861Leu) c.2564G>T (p.Arg855Leu) | gnomAD v4 |
22 | g.50720419_50720422del | CA2657583129 | SHANK3 | c.2187_2190del (p.Leu730AlafsTer29) n.2771_2774del c.1239_1242del (p.Leu414AlafsTer29) c.729_732del (p.Leu244AlafsTer29) c.*1185_*1188del (n.*1185_*1188del) c.2583_2586del (p.Leu862AlafsTer29) c.2565_2568del (p.Leu856AlafsTer29) | gnomAD v4 |
22 | g.50720419C>A | CA515259213 | SHANK3 | c.2187C>A (p.Arg729=) n.2771C>A c.1239C>A (p.Arg413=) c.729C>A (p.Arg243=) c.*1185C>A (n.*1185C>A) c.2583C>A (p.Arg861=) c.2565C>A (p.Arg855=) | gnomAD v4 |
22 | g.50720419C>G | CA515259214 | SHANK3 | c.2187C>G (p.Arg729=) n.2771C>G c.1239C>G (p.Arg413=) c.729C>G (p.Arg243=) c.*1185C>G (n.*1185C>G) c.2583C>G (p.Arg861=) c.2565C>G (p.Arg855=) | |
22 | g.50720419C>T | CA515259215 | SHANK3 | c.2187C>T (p.Arg729=) n.2771C>T c.1239C>T (p.Arg413=) c.729C>T (p.Arg243=) c.*1185C>T (n.*1185C>T) c.2583C>T (p.Arg861=) c.2565C>T (p.Arg855=) | gnomAD v4 |
22 | g.50720420C>A | CA515259218 | SHANK3 | c.2188C>A (p.Leu730Met) n.2772C>A c.1240C>A (p.Leu414Met) c.730C>A (p.Leu244Met) c.*1186C>A (n.*1186C>A) c.2584C>A (p.Leu862Met) c.2566C>A (p.Leu856Met) | gnomAD v4 |
22 | g.50720420C>G | CA515259217 | SHANK3 | c.2188C>G (p.Leu730Val) n.2772C>G c.1240C>G (p.Leu414Val) c.730C>G (p.Leu244Val) c.*1186C>G (n.*1186C>G) c.2584C>G (p.Leu862Val) c.2566C>G (p.Leu856Val) | |
22 | g.50720420C>T | CA515259216 | SHANK3 | c.2188C>T (p.Leu730=) n.2772C>T c.1240C>T (p.Leu414=) c.730C>T (p.Leu244=) c.*1186C>T (n.*1186C>T) c.2584C>T (p.Leu862=) c.2566C>T (p.Leu856=) | gnomAD v4 |
22 | g.50720421T>A | CA515259219 | SHANK3 | c.2189T>A (p.Leu730Gln) n.2773T>A c.1241T>A (p.Leu414Gln) c.731T>A (p.Leu244Gln) c.*1187T>A (n.*1187T>A) c.2585T>A (p.Leu862Gln) c.2567T>A (p.Leu856Gln) | |
22 | g.50720421T>C | CA515259220 | SHANK3 | c.2189T>C (p.Leu730Pro) n.2773T>C c.1241T>C (p.Leu414Pro) c.731T>C (p.Leu244Pro) c.*1187T>C (n.*1187T>C) c.2585T>C (p.Leu862Pro) c.2567T>C (p.Leu856Pro) | gnomAD v4 |
22 | g.50720421T>G | CA515259221 | SHANK3 | c.2189T>G (p.Leu730Arg) n.2773T>G c.1241T>G (p.Leu414Arg) c.731T>G (p.Leu244Arg) c.*1187T>G (n.*1187T>G) c.2585T>G (p.Leu862Arg) c.2567T>G (p.Leu856Arg) | gnomAD v4 |
22 | g.50720421T= | CA2411007607 | SHANK3 | c.2189T= (p.Leu730=) n.2773T= c.1241T= (p.Leu414=) c.731T= (p.Leu244=) c.*1187T= (n.*1187T=) c.2585T= (p.Leu862=) c.2567T= (p.Leu856=) | |
22 | g.50720422G>A | CA515259222 | SHANK3 | c.2190G>A (p.Leu730=) n.2774G>A c.1242G>A (p.Leu414=) c.732G>A (p.Leu244=) c.*1188G>A (n.*1188G>A) c.2586G>A (p.Leu862=) c.2568G>A (p.Leu856=) | gnomAD v4 |
22 | g.50720422G>C | CA515259223 | SHANK3 | c.2190G>C (p.Leu730=) n.2774G>C c.1242G>C (p.Leu414=) c.732G>C (p.Leu244=) c.*1188G>C (n.*1188G>C) c.2586G>C (p.Leu862=) c.2568G>C (p.Leu856=) | gnomAD v4 |
22 | g.50720422G>T | CA515259224 | SHANK3 | c.2190G>T (p.Leu730=) n.2774G>T c.1242G>T (p.Leu414=) c.732G>T (p.Leu244=) c.*1188G>T (n.*1188G>T) c.2586G>T (p.Leu862=) c.2568G>T (p.Leu856=) | gnomAD v4 |
22 | g.50720424del | CA2657583130 | SHANK3 | c.2192del (p.Gly731AlafsTer29) n.2776del c.1244del (p.Gly415AlafsTer29) c.734del (p.Gly245AlafsTer29) c.*1190del (n.*1190del) c.2588del (p.Gly863AlafsTer29) c.2570del (p.Gly857AlafsTer29) | gnomAD v4 |
22 | g.50720428_50720433dup | CA754092511 | SHANK3 | c.2196_2201dup (p.Ala734_Ala735insGlyAla) n.2780_2785dup c.1248_1253dup (p.Ala418_Ala419insGlyAla) c.738_743dup (p.Ala248_Ala249insGlyAla) c.*1194_*1199dup (n.*1194_*1199dup) c.2592_2597dup (p.Ala866_Ala867insGlyAla) c.2574_2579dup (p.Ala860_Ala861insGlyAla) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720430_50720459dup | CA640358963 | SHANK3 | c.2198_2227dup (p.Ala742_Ala743insGlyAlaAlaGlyLeuTyrGluProGlyAla) n.2782_2811dup c.1250_1279dup (p.Ala426_Ala427insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.740_769dup (p.Ala256_Ala257insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.*1196_*1225dup (n.*1196_*1225dup) c.2594_2623dup (p.Ala874_Ala875insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.2576_2605dup (p.Ala868_Ala869insGlyAlaAlaGlyLeuTyrGluProGlyAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720430_50720459del | CA2657583131 | SHANK3 | c.2198_2227del (p.Gly733_Ala742del) n.2782_2811del c.1250_1279del (p.Gly417_Ala426del) c.740_769del (p.Gly247_Ala256del) c.*1196_*1225del (n.*1196_*1225del) c.2594_2623del (p.Gly865_Ala874del) c.2576_2605del (p.Gly859_Ala868del) | gnomAD v4 |
22 | g.50720423G>A | CA515259225 | SHANK3 | c.2191G>A (p.Gly731Ser) n.2775G>A c.1243G>A (p.Gly415Ser) c.733G>A (p.Gly245Ser) c.*1189G>A (n.*1189G>A) c.2587G>A (p.Gly863Ser) c.2569G>A (p.Gly857Ser) | gnomAD v4 |
22 | g.50720423G>C | CA515259226 | SHANK3 | c.2191G>C (p.Gly731Arg) n.2775G>C c.1243G>C (p.Gly415Arg) c.733G>C (p.Gly245Arg) c.*1189G>C (n.*1189G>C) c.2587G>C (p.Gly863Arg) c.2569G>C (p.Gly857Arg) | gnomAD v4 |
22 | g.50720423G= | CA2411007608 | SHANK3 | c.2191G= (p.Gly731=) n.2775G= c.1243G= (p.Gly415=) c.733G= (p.Gly245=) c.*1189G= (n.*1189G=) c.2587G= (p.Gly863=) c.2569G= (p.Gly857=) | |
22 | g.50720423G>T | CA515259227 | SHANK3 | c.2191G>T (p.Gly731Cys) n.2775G>T c.1243G>T (p.Gly415Cys) c.733G>T (p.Gly245Cys) c.*1189G>T (n.*1189G>T) c.2587G>T (p.Gly863Cys) c.2569G>T (p.Gly857Cys) | dbSNP gnomAD v4 |
22 | g.50720426_50720440del | CA2819315490 | SHANK3 | c.2194_2208del (p.Ala732_Gly736del) n.2778_2792del c.1246_1260del (p.Ala416_Gly420del) c.736_750del (p.Ala246_Gly250del) c.*1192_*1206del (n.*1192_*1206del) c.2590_2604del (p.Ala864_Gly868del) c.2572_2586del (p.Ala858_Gly862del) | |
22 | g.50720424G>A | CA515259228 | SHANK3 | c.2192G>A (p.Gly731Asp) n.2776G>A c.1244G>A (p.Gly415Asp) c.734G>A (p.Gly245Asp) c.*1190G>A (n.*1190G>A) c.2588G>A (p.Gly863Asp) c.2570G>A (p.Gly857Asp) | gnomAD v4 |
22 | g.50720424G>C | CA325578073 | SHANK3 | c.2192G>C (p.Gly731Ala) n.2776G>C c.1244G>C (p.Gly415Ala) c.734G>C (p.Gly245Ala) c.*1190G>C (n.*1190G>C) c.2588G>C (p.Gly863Ala) c.2570G>C (p.Gly857Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720424G= | CA2411007609 | SHANK3 | c.2192G= (p.Gly731=) n.2776G= c.1244G= (p.Gly415=) c.734G= (p.Gly245=) c.*1190G= (n.*1190G=) c.2588G= (p.Gly863=) c.2570G= (p.Gly857=) | |
22 | g.50720424G>T | CA515259229 | SHANK3 | c.2192G>T (p.Gly731Val) n.2776G>T c.1244G>T (p.Gly415Val) c.734G>T (p.Gly245Val) c.*1190G>T (n.*1190G>T) c.2588G>T (p.Gly863Val) c.2570G>T (p.Gly857Val) | gnomAD v4 |
22 | g.50720427_50720428del | CA2657583135 | SHANK3 | c.2195_2196del (p.Ala732GlyfsTer?) n.2779_2780del c.1247_1248del (p.Ala416GlyfsTer?) c.737_738del (p.Ala246GlyfsTer?) c.*1193_*1194del (n.*1193_*1194del) c.2591_2592del (p.Ala864GlyfsTer?) c.2573_2574del (p.Ala858GlyfsTer?) | gnomAD v4 |
22 | g.50720425del | CA2819315497 | SHANK3 | c.2193del (p.Ala732ArgfsTer28) n.2777del c.1245del (p.Ala416ArgfsTer28) c.735del (p.Ala246ArgfsTer28) c.*1191del (n.*1191del) c.2589del (p.Ala864ArgfsTer28) c.2571del (p.Ala858ArgfsTer28) | |
22 | g.50720425C>A | CA515259232 | SHANK3 | c.2193C>A (p.Gly731=) n.2777C>A c.1245C>A (p.Gly415=) c.735C>A (p.Gly245=) c.*1191C>A (n.*1191C>A) c.2589C>A (p.Gly863=) c.2571C>A (p.Gly857=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720425C= | CA2411007610 | SHANK3 | c.2193C= (p.Gly731=) n.2777C= c.1245C= (p.Gly415=) c.735C= (p.Gly245=) c.*1191C= (n.*1191C=) c.2589C= (p.Gly863=) c.2571C= (p.Gly857=) | |
22 | g.50720425C>G | CA515259231 | SHANK3 | c.2193C>G (p.Gly731=) n.2777C>G c.1245C>G (p.Gly415=) c.735C>G (p.Gly245=) c.*1191C>G (n.*1191C>G) c.2589C>G (p.Gly863=) c.2571C>G (p.Gly857=) | gnomAD v4 |
22 | g.50720425C>T | CA515259230 | SHANK3 | c.2193C>T (p.Gly731=) n.2777C>T c.1245C>T (p.Gly415=) c.735C>T (p.Gly245=) c.*1191C>T (n.*1191C>T) c.2589C>T (p.Gly863=) c.2571C>T (p.Gly857=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720426G>A | CA515259233 | SHANK3 | c.2194G>A (p.Ala732Thr) n.2778G>A c.1246G>A (p.Ala416Thr) c.736G>A (p.Ala246Thr) c.*1192G>A (n.*1192G>A) c.2590G>A (p.Ala864Thr) c.2572G>A (p.Ala858Thr) | dbSNP gnomAD v4 |
22 | g.50720426G>C | CA515259234 | SHANK3 | c.2194G>C (p.Ala732Pro) n.2778G>C c.1246G>C (p.Ala416Pro) c.736G>C (p.Ala246Pro) c.*1192G>C (n.*1192G>C) c.2590G>C (p.Ala864Pro) c.2572G>C (p.Ala858Pro) | gnomAD v4 |
22 | g.50720426G= | CA2411007611 | SHANK3 | c.2194G= (p.Ala732=) n.2778G= c.1246G= (p.Ala416=) c.736G= (p.Ala246=) c.*1192G= (n.*1192G=) c.2590G= (p.Ala864=) c.2572G= (p.Ala858=) | |
22 | g.50720426G>T | CA515259235 | SHANK3 | c.2194G>T (p.Ala732Ser) n.2778G>T c.1246G>T (p.Ala416Ser) c.736G>T (p.Ala246Ser) c.*1192G>T (n.*1192G>T) c.2590G>T (p.Ala864Ser) c.2572G>T (p.Ala858Ser) | gnomAD v4 |
22 | g.50720427del | CA2657583140 | SHANK3 | c.2195del (p.Ala732GlyfsTer28) n.2779del c.1247del (p.Ala416GlyfsTer28) c.737del (p.Ala246GlyfsTer28) c.*1193del (n.*1193del) c.2591del (p.Ala864GlyfsTer28) c.2573del (p.Ala858GlyfsTer28) | gnomAD v4 |
22 | g.50720427C>A | CA515259236 | SHANK3 | c.2195C>A (p.Ala732Glu) n.2779C>A c.1247C>A (p.Ala416Glu) c.737C>A (p.Ala246Glu) c.*1193C>A (n.*1193C>A) c.2591C>A (p.Ala864Glu) c.2573C>A (p.Ala858Glu) | gnomAD v4 |
22 | g.50720427C= | CA2411007612 | SHANK3 | c.2195C= (p.Ala732=) n.2779C= c.1247C= (p.Ala416=) c.737C= (p.Ala246=) c.*1193C= (n.*1193C=) c.2591C= (p.Ala864=) c.2573C= (p.Ala858=) | |
22 | g.50720427C>G | CA325578081 | SHANK3 | c.2195C>G (p.Ala732Gly) n.2779C>G c.1247C>G (p.Ala416Gly) c.737C>G (p.Ala246Gly) c.*1193C>G (n.*1193C>G) c.2591C>G (p.Ala864Gly) c.2573C>G (p.Ala858Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720427C>T | CA515259237 | SHANK3 | c.2195C>T (p.Ala732Val) n.2779C>T c.1247C>T (p.Ala416Val) c.737C>T (p.Ala246Val) c.*1193C>T (n.*1193C>T) c.2591C>T (p.Ala864Val) c.2573C>T (p.Ala858Val) | gnomAD v4 |
22 | g.50720434_50720457dup | CA2657583139 | SHANK3 | c.2202_2225dup (p.Ala742_Ala743insAlaGlyLeuTyrGluProGlyAla) n.2786_2809dup c.1254_1277dup (p.Ala426_Ala427insAlaGlyLeuTyrGluProGlyAla) c.744_767dup (p.Ala256_Ala257insAlaGlyLeuTyrGluProGlyAla) c.*1200_*1223dup (n.*1200_*1223dup) c.2598_2621dup (p.Ala874_Ala875insAlaGlyLeuTyrGluProGlyAla) c.2580_2603dup (p.Ala868_Ala869insAlaGlyLeuTyrGluProGlyAla) | gnomAD v4 |
22 | g.50720428G>A | CA10325923 | SHANK3 | c.2196G>A (p.Ala732=) n.2780G>A c.1248G>A (p.Ala416=) c.738G>A (p.Ala246=) c.*1194G>A (n.*1194G>A) c.2592G>A (p.Ala864=) c.2574G>A (p.Ala858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720428G>C | CA515259238 | SHANK3 | c.2196G>C (p.Ala732=) n.2780G>C c.1248G>C (p.Ala416=) c.738G>C (p.Ala246=) c.*1194G>C (n.*1194G>C) c.2592G>C (p.Ala864=) c.2574G>C (p.Ala858=) | gnomAD v4 |
22 | g.50720428G= | CA2411007613 | SHANK3 | c.2196G= (p.Ala732=) n.2780G= c.1248G= (p.Ala416=) c.738G= (p.Ala246=) c.*1194G= (n.*1194G=) c.2592G= (p.Ala864=) c.2574G= (p.Ala858=) | |
22 | g.50720428G>T | CA515259239 | SHANK3 | c.2196G>T (p.Ala732=) n.2780G>T c.1248G>T (p.Ala416=) c.738G>T (p.Ala246=) c.*1194G>T (n.*1194G>T) c.2592G>T (p.Ala864=) c.2574G>T (p.Ala858=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720430del | CA2657583141 | SHANK3 | c.2198del (p.Gly733AlafsTer27) n.2782del c.1250del (p.Gly417AlafsTer27) c.740del (p.Gly247AlafsTer27) c.*1196del (n.*1196del) c.2594del (p.Gly865AlafsTer27) c.2576del (p.Gly859AlafsTer27) | gnomAD v4 |
22 | g.50720429G>A | CA515259240 | SHANK3 | c.2197G>A (p.Gly733Ser) n.2781G>A c.1249G>A (p.Gly417Ser) c.739G>A (p.Gly247Ser) c.*1195G>A (n.*1195G>A) c.2593G>A (p.Gly865Ser) c.2575G>A (p.Gly859Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720429G>C | CA515259241 | SHANK3 | c.2197G>C (p.Gly733Arg) n.2781G>C c.1249G>C (p.Gly417Arg) c.739G>C (p.Gly247Arg) c.*1195G>C (n.*1195G>C) c.2593G>C (p.Gly865Arg) c.2575G>C (p.Gly859Arg) | |
22 | g.50720429G= | CA2411007614 | SHANK3 | c.2197G= (p.Gly733=) n.2781G= c.1249G= (p.Gly417=) c.739G= (p.Gly247=) c.*1195G= (n.*1195G=) c.2593G= (p.Gly865=) c.2575G= (p.Gly859=) | |
22 | g.50720429G>T | CA515259242 | SHANK3 | c.2197G>T (p.Gly733Cys) n.2781G>T c.1249G>T (p.Gly417Cys) c.739G>T (p.Gly247Cys) c.*1195G>T (n.*1195G>T) c.2593G>T (p.Gly865Cys) c.2575G>T (p.Gly859Cys) | gnomAD v4 |
22 | g.50720430G>A | CA515259245 | SHANK3 | c.2198G>A (p.Gly733Asp) n.2782G>A c.1250G>A (p.Gly417Asp) c.740G>A (p.Gly247Asp) c.*1196G>A (n.*1196G>A) c.2594G>A (p.Gly865Asp) c.2576G>A (p.Gly859Asp) | gnomAD v4 |
22 | g.50720430G>C | CA515259244 | SHANK3 | c.2198G>C (p.Gly733Ala) n.2782G>C c.1250G>C (p.Gly417Ala) c.740G>C (p.Gly247Ala) c.*1196G>C (n.*1196G>C) c.2594G>C (p.Gly865Ala) c.2576G>C (p.Gly859Ala) | gnomAD v4 |
22 | g.50720430G>T | CA515259243 | SHANK3 | c.2198G>T (p.Gly733Val) n.2782G>T c.1250G>T (p.Gly417Val) c.740G>T (p.Gly247Val) c.*1196G>T (n.*1196G>T) c.2594G>T (p.Gly865Val) c.2576G>T (p.Gly859Val) | gnomAD v4 |
22 | g.50720431C>A | CA515259246 | SHANK3 | c.2199C>A (p.Gly733=) n.2783C>A c.1251C>A (p.Gly417=) c.741C>A (p.Gly247=) c.*1197C>A (n.*1197C>A) c.2595C>A (p.Gly865=) c.2577C>A (p.Gly859=) | gnomAD v4 |
22 | g.50720431C>G | CA515259247 | SHANK3 | c.2199C>G (p.Gly733=) n.2783C>G c.1251C>G (p.Gly417=) c.741C>G (p.Gly247=) c.*1197C>G (n.*1197C>G) c.2595C>G (p.Gly865=) c.2577C>G (p.Gly859=) | gnomAD v4 |
22 | g.50720431C>T | CA515259248 | SHANK3 | c.2199C>T (p.Gly733=) n.2783C>T c.1251C>T (p.Gly417=) c.741C>T (p.Gly247=) c.*1197C>T (n.*1197C>T) c.2595C>T (p.Gly865=) c.2577C>T (p.Gly859=) | gnomAD v4 |
22 | g.50720432G>A | CA515259249 | SHANK3 | c.2200G>A (p.Ala734Thr) n.2784G>A c.1252G>A (p.Ala418Thr) c.742G>A (p.Ala248Thr) c.*1198G>A (n.*1198G>A) c.2596G>A (p.Ala866Thr) c.2578G>A (p.Ala860Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720432G>C | CA515259250 | SHANK3 | c.2200G>C (p.Ala734Pro) n.2784G>C c.1252G>C (p.Ala418Pro) c.742G>C (p.Ala248Pro) c.*1198G>C (n.*1198G>C) c.2596G>C (p.Ala866Pro) c.2578G>C (p.Ala860Pro) | |
22 | g.50720432G= | CA2411007615 | SHANK3 | c.2200G= (p.Ala734=) n.2784G= c.1252G= (p.Ala418=) c.742G= (p.Ala248=) c.*1198G= (n.*1198G=) c.2596G= (p.Ala866=) c.2578G= (p.Ala860=) | |
22 | g.50720432G>T | CA515259251 | SHANK3 | c.2200G>T (p.Ala734Ser) n.2784G>T c.1252G>T (p.Ala418Ser) c.742G>T (p.Ala248Ser) c.*1198G>T (n.*1198G>T) c.2596G>T (p.Ala866Ser) c.2578G>T (p.Ala860Ser) | gnomAD v4 |
22 | g.50720433C>A | CA515259252 | SHANK3 | c.2201C>A (p.Ala734Asp) n.2785C>A c.1253C>A (p.Ala418Asp) c.743C>A (p.Ala248Asp) c.*1199C>A (n.*1199C>A) c.2597C>A (p.Ala866Asp) c.2579C>A (p.Ala860Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720433C= | CA2411007616 | SHANK3 | c.2201C= (p.Ala734=) n.2785C= c.1253C= (p.Ala418=) c.743C= (p.Ala248=) c.*1199C= (n.*1199C=) c.2597C= (p.Ala866=) c.2579C= (p.Ala860=) | |
22 | g.50720433C>G | CA515259253 | SHANK3 | c.2201C>G (p.Ala734Gly) n.2785C>G c.1253C>G (p.Ala418Gly) c.743C>G (p.Ala248Gly) c.*1199C>G (n.*1199C>G) c.2597C>G (p.Ala866Gly) c.2579C>G (p.Ala860Gly) | gnomAD v4 |
22 | g.50720433C>T | CA515259254 | SHANK3 | c.2201C>T (p.Ala734Val) n.2785C>T c.1253C>T (p.Ala418Val) c.743C>T (p.Ala248Val) c.*1199C>T (n.*1199C>T) c.2597C>T (p.Ala866Val) c.2579C>T (p.Ala860Val) | dbSNP gnomAD v4 |
22 | g.50720434T>A | CA515259255 | SHANK3 | c.2202T>A (p.Ala734=) n.2786T>A c.1254T>A (p.Ala418=) c.744T>A (p.Ala248=) c.*1200T>A (n.*1200T>A) c.2598T>A (p.Ala866=) c.2580T>A (p.Ala860=) | |
22 | g.50720434T>C | CA515259256 | SHANK3 | c.2202T>C (p.Ala734=) n.2786T>C c.1254T>C (p.Ala418=) c.744T>C (p.Ala248=) c.*1200T>C (n.*1200T>C) c.2598T>C (p.Ala866=) c.2580T>C (p.Ala860=) | gnomAD v4 |
22 | g.50720434T>G | CA515259257 | SHANK3 | c.2202T>G (p.Ala734=) n.2786T>G c.1254T>G (p.Ala418=) c.744T>G (p.Ala248=) c.*1200T>G (n.*1200T>G) c.2598T>G (p.Ala866=) c.2580T>G (p.Ala860=) | |
22 | g.50720435G>A | CA515259260 | SHANK3 | c.2203G>A (p.Ala735Thr) n.2787G>A c.1255G>A (p.Ala419Thr) c.745G>A (p.Ala249Thr) c.*1201G>A (n.*1201G>A) c.2599G>A (p.Ala867Thr) c.2581G>A (p.Ala861Thr) | gnomAD v4 |
22 | g.50720435G>C | CA515259259 | SHANK3 | c.2203G>C (p.Ala735Pro) n.2787G>C c.1255G>C (p.Ala419Pro) c.745G>C (p.Ala249Pro) c.*1201G>C (n.*1201G>C) c.2599G>C (p.Ala867Pro) c.2581G>C (p.Ala861Pro) | gnomAD v4 |
22 | g.50720435G>T | CA515259258 | SHANK3 | c.2203G>T (p.Ala735Ser) n.2787G>T c.1255G>T (p.Ala419Ser) c.745G>T (p.Ala249Ser) c.*1201G>T (n.*1201G>T) c.2599G>T (p.Ala867Ser) c.2581G>T (p.Ala861Ser) | gnomAD v4 |
22 | g.50720435dup | CA1026671883 | SHANK3 | c.2203dup (p.Ala735GlyfsTer?) n.2787dup c.1255dup (p.Ala419GlyfsTer?) c.745dup (p.Ala249GlyfsTer?) c.*1201dup (n.*1201dup) c.2599dup (p.Ala867GlyfsTer?) c.2581dup (p.Ala861GlyfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.50720438_50720441del | CA2657583146 | SHANK3 | c.2206_2209del (p.Gly736CysfsTer23) n.2790_2793del c.1258_1261del (p.Gly420CysfsTer23) c.748_751del (p.Gly250CysfsTer23) c.*1204_*1207del (n.*1204_*1207del) c.2602_2605del (p.Gly868CysfsTer23) c.2584_2587del (p.Gly862CysfsTer23) | gnomAD v4 |
22 | g.50720436C>A | CA515259261 | SHANK3 | c.2204C>A (p.Ala735Asp) n.2788C>A c.1256C>A (p.Ala419Asp) c.746C>A (p.Ala249Asp) c.*1202C>A (n.*1202C>A) c.2600C>A (p.Ala867Asp) c.2582C>A (p.Ala861Asp) | gnomAD v4 |
22 | g.50720436C>G | CA515259262 | SHANK3 | c.2204C>G (p.Ala735Gly) n.2788C>G c.1256C>G (p.Ala419Gly) c.746C>G (p.Ala249Gly) c.*1202C>G (n.*1202C>G) c.2600C>G (p.Ala867Gly) c.2582C>G (p.Ala861Gly) | |
22 | g.50720436C>T | CA515259263 | SHANK3 | c.2204C>T (p.Ala735Val) n.2788C>T c.1256C>T (p.Ala419Val) c.746C>T (p.Ala249Val) c.*1202C>T (n.*1202C>T) c.2600C>T (p.Ala867Val) c.2582C>T (p.Ala861Val) | gnomAD v3 gnomAD v4 |
22 | g.50720437C>A | CA515259264 | SHANK3 | c.2205C>A (p.Ala735=) n.2789C>A c.1257C>A (p.Ala419=) c.747C>A (p.Ala249=) c.*1203C>A (n.*1203C>A) c.2601C>A (p.Ala867=) c.2583C>A (p.Ala861=) | dbSNP gnomAD v4 |
22 | g.50720437C= | CA2411007617 | SHANK3 | c.2205C= (p.Ala735=) n.2789C= c.1257C= (p.Ala419=) c.747C= (p.Ala249=) c.*1203C= (n.*1203C=) c.2601C= (p.Ala867=) c.2583C= (p.Ala861=) | |
22 | g.50720437C>G | CA515259265 | SHANK3 | c.2205C>G (p.Ala735=) n.2789C>G c.1257C>G (p.Ala419=) c.747C>G (p.Ala249=) c.*1203C>G (n.*1203C>G) c.2601C>G (p.Ala867=) c.2583C>G (p.Ala861=) | gnomAD v4 |
22 | g.50720437C>T | CA515259266 | SHANK3 | c.2205C>T (p.Ala735=) n.2789C>T c.1257C>T (p.Ala419=) c.747C>T (p.Ala249=) c.*1203C>T (n.*1203C>T) c.2601C>T (p.Ala867=) c.2583C>T (p.Ala861=) | gnomAD v4 |
22 | g.50720437_50720438insCG | CA1026671884 | SHANK3 | c.2205_2206insCG (p.Gly736ArgfsTer25) n.2789_2790insCG c.1257_1258insCG (p.Gly420ArgfsTer25) c.747_748insCG (p.Gly250ArgfsTer25) c.*1203_*1204insCG (n.*1203_*1204insCG) c.2601_2602insCG (p.Gly868ArgfsTer25) c.2583_2584insCG (p.Gly862ArgfsTer25) | gnomAD v3 gnomAD v4 |
22 | g.50720438G>A | CA515259269 | SHANK3 | c.2206G>A (p.Gly736Ser) n.2790G>A c.1258G>A (p.Gly420Ser) c.748G>A (p.Gly250Ser) c.*1204G>A (n.*1204G>A) c.2602G>A (p.Gly868Ser) c.2584G>A (p.Gly862Ser) | gnomAD v3 gnomAD v4 |
22 | g.50720438G>C | CA515259268 | SHANK3 | c.2206G>C (p.Gly736Arg) n.2790G>C c.1258G>C (p.Gly420Arg) c.748G>C (p.Gly250Arg) c.*1204G>C (n.*1204G>C) c.2602G>C (p.Gly868Arg) c.2584G>C (p.Gly862Arg) | |
22 | g.50720438G>T | CA515259267 | SHANK3 | c.2206G>T (p.Gly736Cys) n.2790G>T c.1258G>T (p.Gly420Cys) c.748G>T (p.Gly250Cys) c.*1204G>T (n.*1204G>T) c.2602G>T (p.Gly868Cys) c.2584G>T (p.Gly862Cys) | gnomAD v4 |
22 | g.50720439G>A | CA515259270 | SHANK3 | c.2207G>A (p.Gly736Asp) n.2791G>A c.1259G>A (p.Gly420Asp) c.749G>A (p.Gly250Asp) c.*1205G>A (n.*1205G>A) c.2603G>A (p.Gly868Asp) c.2585G>A (p.Gly862Asp) | gnomAD v4 |
22 | g.50720439G>C | CA515259271 | SHANK3 | c.2207G>C (p.Gly736Ala) n.2791G>C c.1259G>C (p.Gly420Ala) c.749G>C (p.Gly250Ala) c.*1205G>C (n.*1205G>C) c.2603G>C (p.Gly868Ala) c.2585G>C (p.Gly862Ala) | gnomAD v4 |
22 | g.50720439G= | CA2411007618 | SHANK3 | c.2207G= (p.Gly736=) n.2791G= c.1259G= (p.Gly420=) c.749G= (p.Gly250=) c.*1205G= (n.*1205G=) c.2603G= (p.Gly868=) c.2585G= (p.Gly862=) | |
22 | g.50720439G>T | CA515259272 | SHANK3 | c.2207G>T (p.Gly736Val) n.2791G>T c.1259G>T (p.Gly420Val) c.749G>T (p.Gly250Val) c.*1205G>T (n.*1205G>T) c.2603G>T (p.Gly868Val) c.2585G>T (p.Gly862Val) | dbSNP gnomAD v4 |
22 | g.50720440C>A | CA515259273 | SHANK3 | c.2208C>A (p.Gly736=) n.2792C>A c.1260C>A (p.Gly420=) c.750C>A (p.Gly250=) c.*1206C>A (n.*1206C>A) c.2604C>A (p.Gly868=) c.2586C>A (p.Gly862=) | gnomAD v4 |
22 | g.50720440C>G | CA515259274 | SHANK3 | c.2208C>G (p.Gly736=) n.2792C>G c.1260C>G (p.Gly420=) c.750C>G (p.Gly250=) c.*1206C>G (n.*1206C>G) c.2604C>G (p.Gly868=) c.2586C>G (p.Gly862=) | gnomAD v4 |
22 | g.50720440C>T | CA515259275 | SHANK3 | c.2208C>T (p.Gly736=) n.2792C>T c.1260C>T (p.Gly420=) c.750C>T (p.Gly250=) c.*1206C>T (n.*1206C>T) c.2604C>T (p.Gly868=) c.2586C>T (p.Gly862=) | gnomAD v4 |
22 | g.50720441C>A | CA515259276 | SHANK3 | c.2209C>A (p.Leu737Met) n.2793C>A c.1261C>A (p.Leu421Met) c.751C>A (p.Leu251Met) c.*1207C>A (n.*1207C>A) c.2605C>A (p.Leu869Met) c.2587C>A (p.Leu863Met) | dbSNP gnomAD v4 |
22 | g.50720441C= | CA2411007619 | SHANK3 | c.2209C= (p.Leu737=) n.2793C= c.1261C= (p.Leu421=) c.751C= (p.Leu251=) c.*1207C= (n.*1207C=) c.2605C= (p.Leu869=) c.2587C= (p.Leu863=) | |
22 | g.50720441C>G | CA515259277 | SHANK3 | c.2209C>G (p.Leu737Val) n.2793C>G c.1261C>G (p.Leu421Val) c.751C>G (p.Leu251Val) c.*1207C>G (n.*1207C>G) c.2605C>G (p.Leu869Val) c.2587C>G (p.Leu863Val) | |
22 | g.50720441C>T | CA325578087 | SHANK3 | c.2209C>T (p.Leu737=) n.2793C>T c.1261C>T (p.Leu421=) c.751C>T (p.Leu251=) c.*1207C>T (n.*1207C>T) c.2605C>T (p.Leu869=) c.2587C>T (p.Leu863=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720442T>A | CA515259278 | SHANK3 | c.2210T>A (p.Leu737Gln) n.2794T>A c.1262T>A (p.Leu421Gln) c.752T>A (p.Leu251Gln) c.*1208T>A (n.*1208T>A) c.2606T>A (p.Leu869Gln) c.2588T>A (p.Leu863Gln) | gnomAD v4 |
22 | g.50720442T>C | CA515259279 | SHANK3 | c.2210T>C (p.Leu737Pro) n.2794T>C c.1262T>C (p.Leu421Pro) c.752T>C (p.Leu251Pro) c.*1208T>C (n.*1208T>C) c.2606T>C (p.Leu869Pro) c.2588T>C (p.Leu863Pro) | gnomAD v4 |
22 | g.50720442T>G | CA515259280 | SHANK3 | c.2210T>G (p.Leu737Arg) n.2794T>G c.1262T>G (p.Leu421Arg) c.752T>G (p.Leu251Arg) c.*1208T>G (n.*1208T>G) c.2606T>G (p.Leu869Arg) c.2588T>G (p.Leu863Arg) | |
22 | g.50720443G>A | CA515259281 | SHANK3 | c.2211G>A (p.Leu737=) n.2795G>A c.1263G>A (p.Leu421=) c.753G>A (p.Leu251=) c.*1209G>A (n.*1209G>A) c.2607G>A (p.Leu869=) c.2589G>A (p.Leu863=) | gnomAD v4 |
22 | g.50720443G>C | CA515259282 | SHANK3 | c.2211G>C (p.Leu737=) n.2795G>C c.1263G>C (p.Leu421=) c.753G>C (p.Leu251=) c.*1209G>C (n.*1209G>C) c.2607G>C (p.Leu869=) c.2589G>C (p.Leu863=) | gnomAD v4 |
22 | g.50720443G>T | CA515259283 | SHANK3 | c.2211G>T (p.Leu737=) n.2795G>T c.1263G>T (p.Leu421=) c.753G>T (p.Leu251=) c.*1209G>T (n.*1209G>T) c.2607G>T (p.Leu869=) c.2589G>T (p.Leu863=) | gnomAD v4 |
22 | g.50720444T>A | CA515259284 | SHANK3 | c.2212T>A (p.Tyr738Asn) n.2796T>A c.1264T>A (p.Tyr422Asn) c.754T>A (p.Tyr252Asn) c.*1210T>A (n.*1210T>A) c.2608T>A (p.Tyr870Asn) c.2590T>A (p.Tyr864Asn) | |
22 | g.50720444T>C | CA515259285 | SHANK3 | c.2212T>C (p.Tyr738His) n.2796T>C c.1264T>C (p.Tyr422His) c.754T>C (p.Tyr252His) c.*1210T>C (n.*1210T>C) c.2608T>C (p.Tyr870His) c.2590T>C (p.Tyr864His) | gnomAD v4 |
22 | g.50720444T>G | CA515259286 | SHANK3 | c.2212T>G (p.Tyr738Asp) n.2796T>G c.1264T>G (p.Tyr422Asp) c.754T>G (p.Tyr252Asp) c.*1210T>G (n.*1210T>G) c.2608T>G (p.Tyr870Asp) c.2590T>G (p.Tyr864Asp) | |
22 | g.50720445A>C | CA515259287 | SHANK3 | c.2213A>C (p.Tyr738Ser) n.2797A>C c.1265A>C (p.Tyr422Ser) c.755A>C (p.Tyr252Ser) c.*1211A>C (n.*1211A>C) c.2609A>C (p.Tyr870Ser) c.2591A>C (p.Tyr864Ser) | |
22 | g.50720445A>G | CA515259288 | SHANK3 | c.2213A>G (p.Tyr738Cys) n.2797A>G c.1265A>G (p.Tyr422Cys) c.755A>G (p.Tyr252Cys) c.*1211A>G (n.*1211A>G) c.2609A>G (p.Tyr870Cys) c.2591A>G (p.Tyr864Cys) | gnomAD v4 |
22 | g.50720445A>T | CA515259289 | SHANK3 | c.2213A>T (p.Tyr738Phe) n.2797A>T c.1265A>T (p.Tyr422Phe) c.755A>T (p.Tyr252Phe) c.*1211A>T (n.*1211A>T) c.2609A>T (p.Tyr870Phe) c.2591A>T (p.Tyr864Phe) | gnomAD v4 |
22 | g.50720446C>A | CA515259290 | SHANK3 | c.2214C>A (p.Tyr738Ter) n.2798C>A c.1266C>A (p.Tyr422Ter) c.756C>A (p.Tyr252Ter) c.*1212C>A (n.*1212C>A) c.2610C>A (p.Tyr870Ter) c.2592C>A (p.Tyr864Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.50720446C= | CA2411007620 | SHANK3 | c.2214C= (p.Tyr738=) n.2798C= c.1266C= (p.Tyr422=) c.756C= (p.Tyr252=) c.*1212C= (n.*1212C=) c.2610C= (p.Tyr870=) c.2592C= (p.Tyr864=) | |
22 | g.50720446C>G | CA16043165 | SHANK3 | c.2214C>G (p.Tyr738Ter) n.2798C>G c.1266C>G (p.Tyr422Ter) c.756C>G (p.Tyr252Ter) c.*1212C>G (n.*1212C>G) c.2610C>G (p.Tyr870Ter) c.2592C>G (p.Tyr864Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.50720446C>T | CA325578103 | SHANK3 | c.2214C>T (p.Tyr738=) n.2798C>T c.1266C>T (p.Tyr422=) c.756C>T (p.Tyr252=) c.*1212C>T (n.*1212C>T) c.2610C>T (p.Tyr870=) c.2592C>T (p.Tyr864=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720448_50720458del | CA2657583149 | SHANK3 | c.2216_2226del (p.Glu739GlyfsTer?) n.2800_2810del c.1268_1278del (p.Glu423GlyfsTer?) c.758_768del (p.Glu253GlyfsTer?) c.*1214_*1224del (n.*1214_*1224del) c.2612_2622del (p.Glu871GlyfsTer?) c.2594_2604del (p.Glu865GlyfsTer?) | gnomAD v4 |
22 | g.50720447G>A | CA515259291 | SHANK3 | c.2215G>A (p.Glu739Lys) n.2799G>A c.1267G>A (p.Glu423Lys) c.757G>A (p.Glu253Lys) c.*1213G>A (n.*1213G>A) c.2611G>A (p.Glu871Lys) c.2593G>A (p.Glu865Lys) | gnomAD v4 |
22 | g.50720447G>C | CA515259292 | SHANK3 | c.2215G>C (p.Glu739Gln) n.2799G>C c.1267G>C (p.Glu423Gln) c.757G>C (p.Glu253Gln) c.*1213G>C (n.*1213G>C) c.2611G>C (p.Glu871Gln) c.2593G>C (p.Glu865Gln) | gnomAD v4 |
22 | g.50720447G>T | CA515259293 | SHANK3 | c.2215G>T (p.Glu739Ter) n.2799G>T c.1267G>T (p.Glu423Ter) c.757G>T (p.Glu253Ter) c.*1213G>T (n.*1213G>T) c.2611G>T (p.Glu871Ter) c.2593G>T (p.Glu865Ter) | gnomAD v4 |
22 | g.50720448A>C | CA515259294 | SHANK3 | c.2216A>C (p.Glu739Ala) n.2800A>C c.1268A>C (p.Glu423Ala) c.758A>C (p.Glu253Ala) c.*1214A>C (n.*1214A>C) c.2612A>C (p.Glu871Ala) c.2594A>C (p.Glu865Ala) | |
22 | g.50720448A>G | CA515259295 | SHANK3 | c.2216A>G (p.Glu739Gly) n.2800A>G c.1268A>G (p.Glu423Gly) c.758A>G (p.Glu253Gly) c.*1214A>G (n.*1214A>G) c.2612A>G (p.Glu871Gly) c.2594A>G (p.Glu865Gly) | gnomAD v4 |
22 | g.50720448A>T | CA515259296 | SHANK3 | c.2216A>T (p.Glu739Val) n.2800A>T c.1268A>T (p.Glu423Val) c.758A>T (p.Glu253Val) c.*1214A>T (n.*1214A>T) c.2612A>T (p.Glu871Val) c.2594A>T (p.Glu865Val) | |
22 | g.50720449G>A | CA515259297 | SHANK3 | c.2217G>A (p.Glu739=) n.2801G>A c.1269G>A (p.Glu423=) c.759G>A (p.Glu253=) c.*1215G>A (n.*1215G>A) c.2613G>A (p.Glu871=) c.2595G>A (p.Glu865=) | gnomAD v4 |
22 | g.50720449G>C | CA515259298 | SHANK3 | c.2217G>C (p.Glu739Asp) n.2801G>C c.1269G>C (p.Glu423Asp) c.759G>C (p.Glu253Asp) c.*1215G>C (n.*1215G>C) c.2613G>C (p.Glu871Asp) c.2595G>C (p.Glu865Asp) | gnomAD v4 |
22 | g.50720449G>T | CA515259299 | SHANK3 | c.2217G>T (p.Glu739Asp) n.2801G>T c.1269G>T (p.Glu423Asp) c.759G>T (p.Glu253Asp) c.*1215G>T (n.*1215G>T) c.2613G>T (p.Glu871Asp) c.2595G>T (p.Glu865Asp) | gnomAD v4 |
22 | g.50720450C>A | CA515259300 | SHANK3 | c.2218C>A (p.Pro740Thr) n.2802C>A c.1270C>A (p.Pro424Thr) c.760C>A (p.Pro254Thr) c.*1216C>A (n.*1216C>A) c.2614C>A (p.Pro872Thr) c.2596C>A (p.Pro866Thr) | gnomAD v4 |
22 | g.50720450C= | CA2411007621 | SHANK3 | c.2218C= (p.Pro740=) n.2802C= c.1270C= (p.Pro424=) c.760C= (p.Pro254=) c.*1216C= (n.*1216C=) c.2614C= (p.Pro872=) c.2596C= (p.Pro866=) | |
22 | g.50720450C>G | CA515259301 | SHANK3 | c.2218C>G (p.Pro740Ala) n.2802C>G c.1270C>G (p.Pro424Ala) c.760C>G (p.Pro254Ala) c.*1216C>G (n.*1216C>G) c.2614C>G (p.Pro872Ala) c.2596C>G (p.Pro866Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720450C>T | CA515259302 | SHANK3 | c.2218C>T (p.Pro740Ser) n.2802C>T c.1270C>T (p.Pro424Ser) c.760C>T (p.Pro254Ser) c.*1216C>T (n.*1216C>T) c.2614C>T (p.Pro872Ser) c.2596C>T (p.Pro866Ser) | gnomAD v4 |
22 | g.50720451C>A | CA515259304 | SHANK3 | c.2219C>A (p.Pro740Gln) n.2803C>A c.1271C>A (p.Pro424Gln) c.761C>A (p.Pro254Gln) c.*1217C>A (n.*1217C>A) c.2615C>A (p.Pro872Gln) c.2597C>A (p.Pro866Gln) | gnomAD v4 |
22 | g.50720451C= | CA2411007622 | SHANK3 | c.2219C= (p.Pro740=) n.2803C= c.1271C= (p.Pro424=) c.761C= (p.Pro254=) c.*1217C= (n.*1217C=) c.2615C= (p.Pro872=) c.2597C= (p.Pro866=) | |
22 | g.50720451C>G | CA515259303 | SHANK3 | c.2219C>G (p.Pro740Arg) n.2803C>G c.1271C>G (p.Pro424Arg) c.761C>G (p.Pro254Arg) c.*1217C>G (n.*1217C>G) c.2615C>G (p.Pro872Arg) c.2597C>G (p.Pro866Arg) | gnomAD v4 |
22 | g.50720451C>T | CA325578107 | SHANK3 | c.2219C>T (p.Pro740Leu) n.2803C>T c.1271C>T (p.Pro424Leu) c.761C>T (p.Pro254Leu) c.*1217C>T (n.*1217C>T) c.2615C>T (p.Pro872Leu) c.2597C>T (p.Pro866Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720452G>A | CA515259305 | SHANK3 | c.2220G>A (p.Pro740=) n.2804G>A c.1272G>A (p.Pro424=) c.762G>A (p.Pro254=) c.*1218G>A (n.*1218G>A) c.2616G>A (p.Pro872=) c.2598G>A (p.Pro866=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720452G>C | CA515259306 | SHANK3 | c.2220G>C (p.Pro740=) n.2804G>C c.1272G>C (p.Pro424=) c.762G>C (p.Pro254=) c.*1218G>C (n.*1218G>C) c.2616G>C (p.Pro872=) c.2598G>C (p.Pro866=) | gnomAD v4 |
22 | g.50720452G= | CA2411007623 | SHANK3 | c.2220G= (p.Pro740=) n.2804G= c.1272G= (p.Pro424=) c.762G= (p.Pro254=) c.*1218G= (n.*1218G=) c.2616G= (p.Pro872=) c.2598G= (p.Pro866=) | |
22 | g.50720452G>T | CA515259307 | SHANK3 | c.2220G>T (p.Pro740=) n.2804G>T c.1272G>T (p.Pro424=) c.762G>T (p.Pro254=) c.*1218G>T (n.*1218G>T) c.2616G>T (p.Pro872=) c.2598G>T (p.Pro866=) | gnomAD v4 |
22 | g.50720454del | CA2657583150 | SHANK3 | c.2222del (p.Gly741AlafsTer19) n.2806del c.1274del (p.Gly425AlafsTer19) c.764del (p.Gly255AlafsTer19) c.*1220del (n.*1220del) c.2618del (p.Gly873AlafsTer19) c.2600del (p.Gly867AlafsTer19) | gnomAD v4 |
22 | g.50720453G>A | CA515259308 | SHANK3 | c.2221G>A (p.Gly741Ser) n.2805G>A c.1273G>A (p.Gly425Ser) c.763G>A (p.Gly255Ser) c.*1219G>A (n.*1219G>A) c.2617G>A (p.Gly873Ser) c.2599G>A (p.Gly867Ser) | gnomAD v4 |
22 | g.50720453G>C | CA515259309 | SHANK3 | c.2221G>C (p.Gly741Arg) n.2805G>C c.1273G>C (p.Gly425Arg) c.763G>C (p.Gly255Arg) c.*1219G>C (n.*1219G>C) c.2617G>C (p.Gly873Arg) c.2599G>C (p.Gly867Arg) | gnomAD v4 |
22 | g.50720453G>T | CA515259310 | SHANK3 | c.2221G>T (p.Gly741Cys) n.2805G>T c.1273G>T (p.Gly425Cys) c.763G>T (p.Gly255Cys) c.*1219G>T (n.*1219G>T) c.2617G>T (p.Gly873Cys) c.2599G>T (p.Gly867Cys) | gnomAD v4 |
22 | g.50720454G>A | CA515259311 | SHANK3 | c.2222G>A (p.Gly741Asp) n.2806G>A c.1274G>A (p.Gly425Asp) c.764G>A (p.Gly255Asp) c.*1220G>A (n.*1220G>A) c.2618G>A (p.Gly873Asp) c.2600G>A (p.Gly867Asp) | gnomAD v4 |
22 | g.50720454G>C | CA515259312 | SHANK3 | c.2222G>C (p.Gly741Ala) n.2806G>C c.1274G>C (p.Gly425Ala) c.764G>C (p.Gly255Ala) c.*1220G>C (n.*1220G>C) c.2618G>C (p.Gly873Ala) c.2600G>C (p.Gly867Ala) | gnomAD v4 |
22 | g.50720454G>T | CA515259313 | SHANK3 | c.2222G>T (p.Gly741Val) n.2806G>T c.1274G>T (p.Gly425Val) c.764G>T (p.Gly255Val) c.*1220G>T (n.*1220G>T) c.2618G>T (p.Gly873Val) c.2600G>T (p.Gly867Val) | gnomAD v4 |
22 | g.50720455C>A | CA515259314 | SHANK3 | c.2223C>A (p.Gly741=) n.2807C>A c.1275C>A (p.Gly425=) c.765C>A (p.Gly255=) c.*1221C>A (n.*1221C>A) c.2619C>A (p.Gly873=) c.2601C>A (p.Gly867=) | gnomAD v4 |
22 | g.50720455C= | CA2411007624 | SHANK3 | c.2223C= (p.Gly741=) n.2807C= c.1275C= (p.Gly425=) c.765C= (p.Gly255=) c.*1221C= (n.*1221C=) c.2619C= (p.Gly873=) c.2601C= (p.Gly867=) | |
22 | g.50720455C>G | CA515259315 | SHANK3 | c.2223C>G (p.Gly741=) n.2807C>G c.1275C>G (p.Gly425=) c.765C>G (p.Gly255=) c.*1221C>G (n.*1221C>G) c.2619C>G (p.Gly873=) c.2601C>G (p.Gly867=) | gnomAD v4 |
22 | g.50720455C>T | CA515259316 | SHANK3 | c.2223C>T (p.Gly741=) n.2807C>T c.1275C>T (p.Gly425=) c.765C>T (p.Gly255=) c.*1221C>T (n.*1221C>T) c.2619C>T (p.Gly873=) c.2601C>T (p.Gly867=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720456G>A | CA515259319 | SHANK3 | c.2224G>A (p.Ala742Thr) n.2808G>A c.1276G>A (p.Ala426Thr) c.766G>A (p.Ala256Thr) c.*1222G>A (n.*1222G>A) c.2620G>A (p.Ala874Thr) c.2602G>A (p.Ala868Thr) | gnomAD v4 |
22 | g.50720456G>C | CA515259318 | SHANK3 | c.2224G>C (p.Ala742Pro) n.2808G>C c.1276G>C (p.Ala426Pro) c.766G>C (p.Ala256Pro) c.*1222G>C (n.*1222G>C) c.2620G>C (p.Ala874Pro) c.2602G>C (p.Ala868Pro) | gnomAD v4 |
22 | g.50720456G>T | CA515259317 | SHANK3 | c.2224G>T (p.Ala742Ser) n.2808G>T c.1276G>T (p.Ala426Ser) c.766G>T (p.Ala256Ser) c.*1222G>T (n.*1222G>T) c.2620G>T (p.Ala874Ser) c.2602G>T (p.Ala868Ser) | gnomAD v4 |
22 | g.50720457C>A | CA515259320 | SHANK3 | c.2225C>A (p.Ala742Glu) n.2809C>A c.1277C>A (p.Ala426Glu) c.767C>A (p.Ala256Glu) c.*1223C>A (n.*1223C>A) c.2621C>A (p.Ala874Glu) c.2603C>A (p.Ala868Glu) | gnomAD v4 |
22 | g.50720457C= | CA2411007625 | SHANK3 | c.2225C= (p.Ala742=) n.2809C= c.1277C= (p.Ala426=) c.767C= (p.Ala256=) c.*1223C= (n.*1223C=) c.2621C= (p.Ala874=) c.2603C= (p.Ala868=) | |
22 | g.50720457C>G | CA515259321 | SHANK3 | c.2225C>G (p.Ala742Gly) n.2809C>G c.1277C>G (p.Ala426Gly) c.767C>G (p.Ala256Gly) c.*1223C>G (n.*1223C>G) c.2621C>G (p.Ala874Gly) c.2603C>G (p.Ala868Gly) | ClinVar dbSNP |
22 | g.50720457C>T | CA14963183 | SHANK3 | c.2225C>T (p.Ala742Val) n.2809C>T c.1277C>T (p.Ala426Val) c.767C>T (p.Ala256Val) c.*1223C>T (n.*1223C>T) c.2621C>T (p.Ala874Val) c.2603C>T (p.Ala868Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720458G>A | CA515259322 | SHANK3 | c.2226G>A (p.Ala742=) n.2810G>A c.1278G>A (p.Ala426=) c.768G>A (p.Ala256=) c.*1224G>A (n.*1224G>A) c.2622G>A (p.Ala874=) c.2604G>A (p.Ala868=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720458G>C | CA515259324 | SHANK3 | c.2226G>C (p.Ala742=) n.2810G>C c.1278G>C (p.Ala426=) c.768G>C (p.Ala256=) c.*1224G>C (n.*1224G>C) c.2622G>C (p.Ala874=) c.2604G>C (p.Ala868=) | dbSNP gnomAD v4 |
22 | g.50720458G= | CA2411007626 | SHANK3 | c.2226G= (p.Ala742=) n.2810G= c.1278G= (p.Ala426=) c.768G= (p.Ala256=) c.*1224G= (n.*1224G=) c.2622G= (p.Ala874=) c.2604G= (p.Ala868=) | |
22 | g.50720458G>T | CA515259323 | SHANK3 | c.2226G>T (p.Ala742=) n.2810G>T c.1278G>T (p.Ala426=) c.768G>T (p.Ala256=) c.*1224G>T (n.*1224G>T) c.2622G>T (p.Ala874=) c.2604G>T (p.Ala868=) | dbSNP gnomAD v4 |
22 | g.50720459G>A | CA515259325 | SHANK3 | c.2227G>A (p.Ala743Thr) n.2811G>A c.1279G>A (p.Ala427Thr) c.769G>A (p.Ala257Thr) c.*1225G>A (n.*1225G>A) c.2623G>A (p.Ala875Thr) c.2605G>A (p.Ala869Thr) | gnomAD v4 |
22 | g.50720459G>C | CA515259327 | SHANK3 | c.2227G>C (p.Ala743Pro) n.2811G>C c.1279G>C (p.Ala427Pro) c.769G>C (p.Ala257Pro) c.*1225G>C (n.*1225G>C) c.2623G>C (p.Ala875Pro) c.2605G>C (p.Ala869Pro) | gnomAD v4 |
22 | g.50720459G>T | CA515259326 | SHANK3 | c.2227G>T (p.Ala743Ser) n.2811G>T c.1279G>T (p.Ala427Ser) c.769G>T (p.Ala257Ser) c.*1225G>T (n.*1225G>T) c.2623G>T (p.Ala875Ser) c.2605G>T (p.Ala869Ser) | gnomAD v4 |
22 | g.50720460C>A | CA515259328 | SHANK3 | c.2228C>A (p.Ala743Asp) n.2812C>A c.1280C>A (p.Ala427Asp) c.770C>A (p.Ala257Asp) c.*1226C>A (n.*1226C>A) c.2624C>A (p.Ala875Asp) c.2606C>A (p.Ala869Asp) | gnomAD v4 |
22 | g.50720460C>G | CA515259330 | SHANK3 | c.2228C>G (p.Ala743Gly) n.2812C>G c.1280C>G (p.Ala427Gly) c.770C>G (p.Ala257Gly) c.*1226C>G (n.*1226C>G) c.2624C>G (p.Ala875Gly) c.2606C>G (p.Ala869Gly) | gnomAD v4 |
22 | g.50720460C>T | CA515259329 | SHANK3 | c.2228C>T (p.Ala743Val) n.2812C>T c.1280C>T (p.Ala427Val) c.770C>T (p.Ala257Val) c.*1226C>T (n.*1226C>T) c.2624C>T (p.Ala875Val) c.2606C>T (p.Ala869Val) | gnomAD v4 |
22 | g.50720462del | CA2657583154 | SHANK3 | c.2230del (p.Leu744SerfsTer16) n.2814del c.1282del (p.Leu428SerfsTer16) c.772del (p.Leu258SerfsTer16) c.*1228del (n.*1228del) c.2626del (p.Leu876SerfsTer16) c.2608del (p.Leu870SerfsTer16) | gnomAD v4 |
22 | g.50720461C>A | CA515259331 | SHANK3 | c.2229C>A (p.Ala743=) n.2813C>A c.1281C>A (p.Ala427=) c.771C>A (p.Ala257=) c.*1227C>A (n.*1227C>A) c.2625C>A (p.Ala875=) c.2607C>A (p.Ala869=) | gnomAD v4 |
22 | g.50720461C>G | CA515259332 | SHANK3 | c.2229C>G (p.Ala743=) n.2813C>G c.1281C>G (p.Ala427=) c.771C>G (p.Ala257=) c.*1227C>G (n.*1227C>G) c.2625C>G (p.Ala875=) c.2607C>G (p.Ala869=) | gnomAD v4 |
22 | g.50720461C>T | CA515259333 | SHANK3 | c.2229C>T (p.Ala743=) n.2813C>T c.1281C>T (p.Ala427=) c.771C>T (p.Ala257=) c.*1227C>T (n.*1227C>T) c.2625C>T (p.Ala875=) c.2607C>T (p.Ala869=) | gnomAD v4 |
22 | g.50720462C>A | CA515259334 | SHANK3 | c.2230C>A (p.Leu744Ile) n.2814C>A c.1282C>A (p.Leu428Ile) c.772C>A (p.Leu258Ile) c.*1228C>A (n.*1228C>A) c.2626C>A (p.Leu876Ile) c.2608C>A (p.Leu870Ile) | gnomAD v4 |
22 | g.50720462C= | CA2411007627 | SHANK3 | c.2230C= (p.Leu744=) n.2814C= c.1282C= (p.Leu428=) c.772C= (p.Leu258=) c.*1228C= (n.*1228C=) c.2626C= (p.Leu876=) c.2608C= (p.Leu870=) | |
22 | g.50720462C>G | CA515259335 | SHANK3 | c.2230C>G (p.Leu744Val) n.2814C>G c.1282C>G (p.Leu428Val) c.772C>G (p.Leu258Val) c.*1228C>G (n.*1228C>G) c.2626C>G (p.Leu876Val) c.2608C>G (p.Leu870Val) | gnomAD v4 |
22 | g.50720462C>T | CA515259336 | SHANK3 | c.2230C>T (p.Leu744Phe) n.2814C>T c.1282C>T (p.Leu428Phe) c.772C>T (p.Leu258Phe) c.*1228C>T (n.*1228C>T) c.2626C>T (p.Leu876Phe) c.2608C>T (p.Leu870Phe) | dbSNP gnomAD v4 |
22 | g.50720463T>A | CA515259337 | SHANK3 | c.2231T>A (p.Leu744His) n.2815T>A c.1283T>A (p.Leu428His) c.773T>A (p.Leu258His) c.*1229T>A (n.*1229T>A) c.2627T>A (p.Leu876His) c.2609T>A (p.Leu870His) | gnomAD v4 |
22 | g.50720463T>C | CA515259338 | SHANK3 | c.2231T>C (p.Leu744Pro) n.2815T>C c.1283T>C (p.Leu428Pro) c.773T>C (p.Leu258Pro) c.*1229T>C (n.*1229T>C) c.2627T>C (p.Leu876Pro) c.2609T>C (p.Leu870Pro) | gnomAD v4 |
22 | g.50720463T>G | CA515259339 | SHANK3 | c.2231T>G (p.Leu744Arg) n.2815T>G c.1283T>G (p.Leu428Arg) c.773T>G (p.Leu258Arg) c.*1229T>G (n.*1229T>G) c.2627T>G (p.Leu876Arg) c.2609T>G (p.Leu870Arg) | dbSNP |
22 | g.50720463T= | CA2411007628 | SHANK3 | c.2231T= (p.Leu744=) n.2815T= c.1283T= (p.Leu428=) c.773T= (p.Leu258=) c.*1229T= (n.*1229T=) c.2627T= (p.Leu876=) c.2609T= (p.Leu870=) |