Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50720679_50720752del | CA2657583379 | SHANK3 | c.2447_2520del (p.Arg816ProfsTer?) n.3031_3104del c.1499_1572del (p.Arg500ProfsTer?) c.989_1062del (p.Arg330ProfsTer?) c.*1445_*1518del (n.*1445_*1518del) c.2843_2916del (p.Arg948ProfsTer?) c.2825_2898del (p.Arg942ProfsTer?) | gnomAD v4 |
22 | g.50720742_50720757dup | CA10581460 | SHANK3 | c.2510_2525dup (p.Pro843ArgfsTer?) n.3094_3109dup c.1562_1577dup (p.Pro527ArgfsTer?) c.1052_1067dup (p.Pro357ArgfsTer?) c.*1508_*1523dup (n.*1508_*1523dup) c.2906_2921dup (p.Pro975ArgfsTer?) c.2888_2903dup (p.Pro969ArgfsTer?) | ClinVar dbSNP |
22 | g.50720750A>C | CA515260181 | SHANK3 | c.2518A>C (p.Ser840Arg) n.3102A>C c.1570A>C (p.Ser524Arg) c.1060A>C (p.Ser354Arg) c.*1516A>C (n.*1516A>C) c.2914A>C (p.Ser972Arg) c.2896A>C (p.Ser966Arg) | gnomAD v4 |
22 | g.50720750A>G | CA515260182 | SHANK3 | c.2518A>G (p.Ser840Gly) n.3102A>G c.1570A>G (p.Ser524Gly) c.1060A>G (p.Ser354Gly) c.*1516A>G (n.*1516A>G) c.2914A>G (p.Ser972Gly) c.2896A>G (p.Ser966Gly) | gnomAD v4 |
22 | g.50720750A>T | CA515260183 | SHANK3 | c.2518A>T (p.Ser840Cys) n.3102A>T c.1570A>T (p.Ser524Cys) c.1060A>T (p.Ser354Cys) c.*1516A>T (n.*1516A>T) c.2914A>T (p.Ser972Cys) c.2896A>T (p.Ser966Cys) | gnomAD v4 |
22 | g.50720751G>A | CA515260184 | SHANK3 | c.2519G>A (p.Ser840Asn) n.3103G>A c.1571G>A (p.Ser524Asn) c.1061G>A (p.Ser354Asn) c.*1517G>A (n.*1517G>A) c.2915G>A (p.Ser972Asn) c.2897G>A (p.Ser966Asn) | gnomAD v4 |
22 | g.50720751G>C | CA515260185 | SHANK3 | c.2519G>C (p.Ser840Thr) n.3103G>C c.1571G>C (p.Ser524Thr) c.1061G>C (p.Ser354Thr) c.*1517G>C (n.*1517G>C) c.2915G>C (p.Ser972Thr) c.2897G>C (p.Ser966Thr) | gnomAD v4 |
22 | g.50720751G= | CA2411007796 | SHANK3 | c.2519G= (p.Ser840=) n.3103G= c.1571G= (p.Ser524=) c.1061G= (p.Ser354=) c.*1517G= (n.*1517G=) c.2915G= (p.Ser972=) c.2897G= (p.Ser966=) | |
22 | g.50720751G>T | CA515260186 | SHANK3 | c.2519G>T (p.Ser840Ile) n.3103G>T c.1571G>T (p.Ser524Ile) c.1061G>T (p.Ser354Ile) c.*1517G>T (n.*1517G>T) c.2915G>T (p.Ser972Ile) c.2897G>T (p.Ser966Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720752C>A | CA515260187 | SHANK3 | c.2520C>A (p.Ser840Arg) n.3104C>A c.1572C>A (p.Ser524Arg) c.1062C>A (p.Ser354Arg) c.*1518C>A (n.*1518C>A) c.2916C>A (p.Ser972Arg) c.2898C>A (p.Ser966Arg) | gnomAD v4 |
22 | g.50720752C= | CA2411007797 | SHANK3 | c.2520C= (p.Ser840=) n.3104C= c.1572C= (p.Ser524=) c.1062C= (p.Ser354=) c.*1518C= (n.*1518C=) c.2916C= (p.Ser972=) c.2898C= (p.Ser966=) | |
22 | g.50720752C>G | CA515260188 | SHANK3 | c.2520C>G (p.Ser840Arg) n.3104C>G c.1572C>G (p.Ser524Arg) c.1062C>G (p.Ser354Arg) c.*1518C>G (n.*1518C>G) c.2916C>G (p.Ser972Arg) c.2898C>G (p.Ser966Arg) | gnomAD v4 |
22 | g.50720752C>T | CA10325938 | SHANK3 | c.2520C>T (p.Ser840=) n.3104C>T c.1572C>T (p.Ser524=) c.1062C>T (p.Ser354=) c.*1518C>T (n.*1518C>T) c.2916C>T (p.Ser972=) c.2898C>T (p.Ser966=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720755del | CA2657583399 | SHANK3 | c.2523del (p.Gly842ValfsTer?) n.3107del c.1575del (p.Gly526ValfsTer?) c.1065del (p.Gly356ValfsTer?) c.*1521del (n.*1521del) c.2919del (p.Gly974ValfsTer?) c.2901del (p.Gly968ValfsTer?) | gnomAD v4 |
22 | g.50720753C>A | CA515260190 | SHANK3 | c.2521C>A (p.Pro841Thr) n.3105C>A c.1573C>A (p.Pro525Thr) c.1063C>A (p.Pro355Thr) c.*1519C>A (n.*1519C>A) c.2917C>A (p.Pro973Thr) c.2899C>A (p.Pro967Thr) | gnomAD v4 |
22 | g.50720753C= | CA2411007798 | SHANK3 | c.2521C= (p.Pro841=) n.3105C= c.1573C= (p.Pro525=) c.1063C= (p.Pro355=) c.*1519C= (n.*1519C=) c.2917C= (p.Pro973=) c.2899C= (p.Pro967=) | |
22 | g.50720753C>G | CA515260189 | SHANK3 | c.2521C>G (p.Pro841Ala) n.3105C>G c.1573C>G (p.Pro525Ala) c.1063C>G (p.Pro355Ala) c.*1519C>G (n.*1519C>G) c.2917C>G (p.Pro973Ala) c.2899C>G (p.Pro967Ala) | |
22 | g.50720753C>T | CA10325939 | SHANK3 | c.2521C>T (p.Pro841Ser) n.3105C>T c.1573C>T (p.Pro525Ser) c.1063C>T (p.Pro355Ser) c.*1519C>T (n.*1519C>T) c.2917C>T (p.Pro973Ser) c.2899C>T (p.Pro967Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720754C>A | CA515260191 | SHANK3 | c.2522C>A (p.Pro841His) n.3106C>A c.1574C>A (p.Pro525His) c.1064C>A (p.Pro355His) c.*1520C>A (n.*1520C>A) c.2918C>A (p.Pro973His) c.2900C>A (p.Pro967His) | gnomAD v4 |
22 | g.50720754C= | CA2411007799 | SHANK3 | c.2522C= (p.Pro841=) n.3106C= c.1574C= (p.Pro525=) c.1064C= (p.Pro355=) c.*1520C= (n.*1520C=) c.2918C= (p.Pro973=) c.2900C= (p.Pro967=) | |
22 | g.50720754C>G | CA515260192 | SHANK3 | c.2522C>G (p.Pro841Arg) n.3106C>G c.1574C>G (p.Pro525Arg) c.1064C>G (p.Pro355Arg) c.*1520C>G (n.*1520C>G) c.2918C>G (p.Pro973Arg) c.2900C>G (p.Pro967Arg) | gnomAD v4 |
22 | g.50720754C>T | CA515260193 | SHANK3 | c.2522C>T (p.Pro841Leu) n.3106C>T c.1574C>T (p.Pro525Leu) c.1064C>T (p.Pro355Leu) c.*1520C>T (n.*1520C>T) c.2918C>T (p.Pro973Leu) c.2900C>T (p.Pro967Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720755C>A | CA515260196 | SHANK3 | c.2523C>A (p.Pro841=) n.3107C>A c.1575C>A (p.Pro525=) c.1065C>A (p.Pro355=) c.*1521C>A (n.*1521C>A) c.2919C>A (p.Pro973=) c.2901C>A (p.Pro967=) | gnomAD v4 |
22 | g.50720755C= | CA2411007800 | SHANK3 | c.2523C= (p.Pro841=) n.3107C= c.1575C= (p.Pro525=) c.1065C= (p.Pro355=) c.*1521C= (n.*1521C=) c.2919C= (p.Pro973=) c.2901C= (p.Pro967=) | |
22 | g.50720755C>G | CA515260195 | SHANK3 | c.2523C>G (p.Pro841=) n.3107C>G c.1575C>G (p.Pro525=) c.1065C>G (p.Pro355=) c.*1521C>G (n.*1521C>G) c.2919C>G (p.Pro973=) c.2901C>G (p.Pro967=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720755C>T | CA515260194 | SHANK3 | c.2523C>T (p.Pro841=) n.3107C>T c.1575C>T (p.Pro525=) c.1065C>T (p.Pro355=) c.*1521C>T (n.*1521C>T) c.2919C>T (p.Pro973=) c.2901C>T (p.Pro967=) | dbSNP gnomAD v4 |
22 | g.50720755_50720756insT | CA2657583400 | SHANK3 | c.2523_2524insT (p.Gly842TrpfsTer?) n.3107_3108insT c.1575_1576insT (p.Gly526TrpfsTer?) c.1065_1066insT (p.Gly356TrpfsTer?) c.*1521_*1522insT (n.*1521_*1522insT) c.2919_2920insT (p.Gly974TrpfsTer?) c.2901_2902insT (p.Gly968TrpfsTer?) | gnomAD v4 |
22 | g.50720756G>A | CA515260197 | SHANK3 | c.2524G>A (p.Gly842Ser) n.3108G>A c.1576G>A (p.Gly526Ser) c.1066G>A (p.Gly356Ser) c.*1522G>A (n.*1522G>A) c.2920G>A (p.Gly974Ser) c.2902G>A (p.Gly968Ser) | gnomAD v4 |
22 | g.50720756G>C | CA515260198 | SHANK3 | c.2524G>C (p.Gly842Arg) n.3108G>C c.1576G>C (p.Gly526Arg) c.1066G>C (p.Gly356Arg) c.*1522G>C (n.*1522G>C) c.2920G>C (p.Gly974Arg) c.2902G>C (p.Gly968Arg) | gnomAD v4 |
22 | g.50720756G>T | CA515260199 | SHANK3 | c.2524G>T (p.Gly842Cys) n.3108G>T c.1576G>T (p.Gly526Cys) c.1066G>T (p.Gly356Cys) c.*1522G>T (n.*1522G>T) c.2920G>T (p.Gly974Cys) c.2902G>T (p.Gly968Cys) | gnomAD v4 |
22 | g.50720757G>A | CA515260200 | SHANK3 | c.2525G>A (p.Gly842Asp) n.3109G>A c.1577G>A (p.Gly526Asp) c.1067G>A (p.Gly356Asp) c.*1523G>A (n.*1523G>A) c.2921G>A (p.Gly974Asp) c.2903G>A (p.Gly968Asp) | dbSNP gnomAD v4 |
22 | g.50720757G>C | CA515260201 | SHANK3 | c.2525G>C (p.Gly842Ala) n.3109G>C c.1577G>C (p.Gly526Ala) c.1067G>C (p.Gly356Ala) c.*1523G>C (n.*1523G>C) c.2921G>C (p.Gly974Ala) c.2903G>C (p.Gly968Ala) | |
22 | g.50720757G= | CA2411007801 | SHANK3 | c.2525G= (p.Gly842=) n.3109G= c.1577G= (p.Gly526=) c.1067G= (p.Gly356=) c.*1523G= (n.*1523G=) c.2921G= (p.Gly974=) c.2903G= (p.Gly968=) | |
22 | g.50720757G>T | CA515260202 | SHANK3 | c.2525G>T (p.Gly842Val) n.3109G>T c.1577G>T (p.Gly526Val) c.1067G>T (p.Gly356Val) c.*1523G>T (n.*1523G>T) c.2921G>T (p.Gly974Val) c.2903G>T (p.Gly968Val) | gnomAD v4 |
22 | g.50720757_50720758delinsGT | CA2411007802 | SHANK3 | c.2525_2526delinsGT (p.Gly842=) n.3109_3110delinsGT c.1577_1578delinsGT (p.Gly526=) c.1067_1068delinsGT (p.Gly356=) c.*1523_*1524delinsGT (n.*1523_*1524delinsGT) c.2921_2922delinsGT (p.Gly974=) c.2903_2904delinsGT (p.Gly968=) | |
22 | g.50720758del | CA2411007803 | SHANK3 | c.2526del (p.Gly844AlafsTer?) n.3110del c.1578del (p.Gly528AlafsTer?) c.1068del (p.Gly358AlafsTer?) c.*1524del (n.*1524del) c.2922del (p.Gly976AlafsTer?) c.2904del (p.Gly970AlafsTer?) | dbSNP |
22 | g.50720758T>A | CA515260205 | SHANK3 | c.2526T>A (p.Gly842=) n.3110T>A c.1578T>A (p.Gly526=) c.1068T>A (p.Gly356=) c.*1524T>A (n.*1524T>A) c.2922T>A (p.Gly974=) c.2904T>A (p.Gly968=) | |
22 | g.50720758T>C | CA515260203 | SHANK3 | c.2526T>C (p.Gly842=) n.3110T>C c.1578T>C (p.Gly526=) c.1068T>C (p.Gly356=) c.*1524T>C (n.*1524T>C) c.2922T>C (p.Gly974=) c.2904T>C (p.Gly968=) | gnomAD v4 |
22 | g.50720758T>G | CA515260204 | SHANK3 | c.2526T>G (p.Gly842=) n.3110T>G c.1578T>G (p.Gly526=) c.1068T>G (p.Gly356=) c.*1524T>G (n.*1524T>G) c.2922T>G (p.Gly974=) c.2904T>G (p.Gly968=) | |
22 | g.50720758_50720759delinsTC | CA2411007804 | SHANK3 | c.2526_2527delinsTC (p.Gly842=) n.3110_3111delinsTC c.1578_1579delinsTC (p.Gly526=) c.1068_1069delinsTC (p.Gly356=) c.*1524_*1525delinsTC (n.*1524_*1525delinsTC) c.2922_2923delinsTC (p.Gly974=) c.2904_2905delinsTC (p.Gly968=) | |
22 | g.50720759C>A | CA515260206 | SHANK3 | c.2527C>A (p.Pro843Thr) n.3111C>A c.1579C>A (p.Pro527Thr) c.1069C>A (p.Pro357Thr) c.*1525C>A (n.*1525C>A) c.2923C>A (p.Pro975Thr) c.2905C>A (p.Pro969Thr) | gnomAD v4 |
22 | g.50720759C>G | CA515260207 | SHANK3 | c.2527C>G (p.Pro843Ala) n.3111C>G c.1579C>G (p.Pro527Ala) c.1069C>G (p.Pro357Ala) c.*1525C>G (n.*1525C>G) c.2923C>G (p.Pro975Ala) c.2905C>G (p.Pro969Ala) | |
22 | g.50720759C>T | CA515260208 | SHANK3 | c.2527C>T (p.Pro843Ser) n.3111C>T c.1579C>T (p.Pro527Ser) c.1069C>T (p.Pro357Ser) c.*1525C>T (n.*1525C>T) c.2923C>T (p.Pro975Ser) c.2905C>T (p.Pro969Ser) | ClinVar dbSNP gnomAD v4 |
22 | g.50720761del | CA10603523 | SHANK3 | c.2529del (p.Gly844AlafsTer?) n.3113del c.1581del (p.Gly528AlafsTer?) c.1071del (p.Gly358AlafsTer?) c.*1527del (n.*1527del) c.2925del (p.Gly976AlafsTer?) c.2907del (p.Gly970AlafsTer?) | ClinVar dbSNP gnomAD v4 |
22 | g.50720760C>A | CA515260209 | SHANK3 | c.2528C>A (p.Pro843His) n.3112C>A c.1580C>A (p.Pro527His) c.1070C>A (p.Pro357His) c.*1526C>A (n.*1526C>A) c.2924C>A (p.Pro975His) c.2906C>A (p.Pro969His) | gnomAD v4 |
22 | g.50720760C= | CA2411007805 | SHANK3 | c.2528C= (p.Pro843=) n.3112C= c.1580C= (p.Pro527=) c.1070C= (p.Pro357=) c.*1526C= (n.*1526C=) c.2924C= (p.Pro975=) c.2906C= (p.Pro969=) | |
22 | g.50720760C>G | CA515260210 | SHANK3 | c.2528C>G (p.Pro843Arg) n.3112C>G c.1580C>G (p.Pro527Arg) c.1070C>G (p.Pro357Arg) c.*1526C>G (n.*1526C>G) c.2924C>G (p.Pro975Arg) c.2906C>G (p.Pro969Arg) | gnomAD v4 |
22 | g.50720760C>T | CA515260211 | SHANK3 | c.2528C>T (p.Pro843Leu) n.3112C>T c.1580C>T (p.Pro527Leu) c.1070C>T (p.Pro357Leu) c.*1526C>T (n.*1526C>T) c.2924C>T (p.Pro975Leu) c.2906C>T (p.Pro969Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720761C>A | CA515260212 | SHANK3 | c.2529C>A (p.Pro843=) n.3113C>A c.1581C>A (p.Pro527=) c.1071C>A (p.Pro357=) c.*1527C>A (n.*1527C>A) c.2925C>A (p.Pro975=) c.2907C>A (p.Pro969=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720761C= | CA2411007806 | SHANK3 | c.2529C= (p.Pro843=) n.3113C= c.1581C= (p.Pro527=) c.1071C= (p.Pro357=) c.*1527C= (n.*1527C=) c.2925C= (p.Pro975=) c.2907C= (p.Pro969=) | |
22 | g.50720761C>G | CA515260213 | SHANK3 | c.2529C>G (p.Pro843=) n.3113C>G c.1581C>G (p.Pro527=) c.1071C>G (p.Pro357=) c.*1527C>G (n.*1527C>G) c.2925C>G (p.Pro975=) c.2907C>G (p.Pro969=) | gnomAD v4 |
22 | g.50720761C>T | CA515260214 | SHANK3 | c.2529C>T (p.Pro843=) n.3113C>T c.1581C>T (p.Pro527=) c.1071C>T (p.Pro357=) c.*1527C>T (n.*1527C>T) c.2925C>T (p.Pro975=) c.2907C>T (p.Pro969=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720768_50720770dup | CA2577768680 | SHANK3 | c.2536_2538dup (p.Gly846_Ser847insGly) n.3120_3122dup c.1588_1590dup (p.Gly530_Ser531insGly) c.1078_1080dup (p.Gly360_Ser361insGly) c.*1534_*1536dup (n.*1534_*1536dup) c.2932_2934dup (p.Gly978_Ser979insGly) c.2914_2916dup (p.Gly972_Ser973insGly) | gnomAD v4 |
22 | g.50720768_50720770del | CA640358968 | SHANK3 | c.2536_2538del (p.Gly846del) n.3120_3122del c.1588_1590del (p.Gly530del) c.1078_1080del (p.Gly360del) c.*1534_*1536del (n.*1534_*1536del) c.2932_2934del (p.Gly978del) c.2914_2916del (p.Gly972del) | gnomAD v2 gnomAD v4 |
22 | g.50720762G>A | CA515260215 | SHANK3 | c.2530G>A (p.Gly844Ser) n.3114G>A c.1582G>A (p.Gly528Ser) c.1072G>A (p.Gly358Ser) c.*1528G>A (n.*1528G>A) c.2926G>A (p.Gly976Ser) c.2908G>A (p.Gly970Ser) | gnomAD v4 |
22 | g.50720762G>C | CA515260216 | SHANK3 | c.2530G>C (p.Gly844Arg) n.3114G>C c.1582G>C (p.Gly528Arg) c.1072G>C (p.Gly358Arg) c.*1528G>C (n.*1528G>C) c.2926G>C (p.Gly976Arg) c.2908G>C (p.Gly970Arg) | gnomAD v4 |
22 | g.50720762G>T | CA515260217 | SHANK3 | c.2530G>T (p.Gly844Cys) n.3114G>T c.1582G>T (p.Gly528Cys) c.1072G>T (p.Gly358Cys) c.*1528G>T (n.*1528G>T) c.2926G>T (p.Gly976Cys) c.2908G>T (p.Gly970Cys) | gnomAD v4 |
22 | g.50720763G>A | CA515260218 | SHANK3 | c.2531G>A (p.Gly844Asp) n.3115G>A c.1583G>A (p.Gly528Asp) c.1073G>A (p.Gly358Asp) c.*1529G>A (n.*1529G>A) c.2927G>A (p.Gly976Asp) c.2909G>A (p.Gly970Asp) | gnomAD v4 |
22 | g.50720763G>C | CA515260220 | SHANK3 | c.2531G>C (p.Gly844Ala) n.3115G>C c.1583G>C (p.Gly528Ala) c.1073G>C (p.Gly358Ala) c.*1529G>C (n.*1529G>C) c.2927G>C (p.Gly976Ala) c.2909G>C (p.Gly970Ala) | gnomAD v4 |
22 | g.50720763G>T | CA515260219 | SHANK3 | c.2531G>T (p.Gly844Val) n.3115G>T c.1583G>T (p.Gly528Val) c.1073G>T (p.Gly358Val) c.*1529G>T (n.*1529G>T) c.2927G>T (p.Gly976Val) c.2909G>T (p.Gly970Val) | gnomAD v4 |
22 | g.50720764del | CA2657583401 | SHANK3 | c.2532del (p.Gly845AlafsTer?) n.3116del c.1584del (p.Gly529AlafsTer?) c.1074del (p.Gly359AlafsTer?) c.*1530del (n.*1530del) c.2928del (p.Gly977AlafsTer?) c.2910del (p.Gly971AlafsTer?) | gnomAD v4 |
22 | g.50720764C>A | CA515260221 | SHANK3 | c.2532C>A (p.Gly844=) n.3116C>A c.1584C>A (p.Gly528=) c.1074C>A (p.Gly358=) c.*1530C>A (n.*1530C>A) c.2928C>A (p.Gly976=) c.2910C>A (p.Gly970=) | gnomAD v4 |
22 | g.50720764C= | CA2411007807 | SHANK3 | c.2532C= (p.Gly844=) n.3116C= c.1584C= (p.Gly528=) c.1074C= (p.Gly358=) c.*1530C= (n.*1530C=) c.2928C= (p.Gly976=) c.2910C= (p.Gly970=) | |
22 | g.50720764C>G | CA515260222 | SHANK3 | c.2532C>G (p.Gly844=) n.3116C>G c.1584C>G (p.Gly528=) c.1074C>G (p.Gly358=) c.*1530C>G (n.*1530C>G) c.2928C>G (p.Gly976=) c.2910C>G (p.Gly970=) | gnomAD v4 |
22 | g.50720764C>T | CA515260223 | SHANK3 | c.2532C>T (p.Gly844=) n.3116C>T c.1584C>T (p.Gly528=) c.1074C>T (p.Gly358=) c.*1530C>T (n.*1530C>T) c.2928C>T (p.Gly976=) c.2910C>T (p.Gly970=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720765G>A | CA515260224 | SHANK3 | c.2533G>A (p.Gly845Ser) n.3117G>A c.1585G>A (p.Gly529Ser) c.1075G>A (p.Gly359Ser) c.*1531G>A (n.*1531G>A) c.2929G>A (p.Gly977Ser) c.2911G>A (p.Gly971Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720765G>C | CA515260225 | SHANK3 | c.2533G>C (p.Gly845Arg) n.3117G>C c.1585G>C (p.Gly529Arg) c.1075G>C (p.Gly359Arg) c.*1531G>C (n.*1531G>C) c.2929G>C (p.Gly977Arg) c.2911G>C (p.Gly971Arg) | gnomAD v4 |
22 | g.50720765G= | CA2411007808 | SHANK3 | c.2533G= (p.Gly845=) n.3117G= c.1585G= (p.Gly529=) c.1075G= (p.Gly359=) c.*1531G= (n.*1531G=) c.2929G= (p.Gly977=) c.2911G= (p.Gly971=) | |
22 | g.50720765G>T | CA515260226 | SHANK3 | c.2533G>T (p.Gly845Cys) n.3117G>T c.1585G>T (p.Gly529Cys) c.1075G>T (p.Gly359Cys) c.*1531G>T (n.*1531G>T) c.2929G>T (p.Gly977Cys) c.2911G>T (p.Gly971Cys) | gnomAD v4 |
22 | g.50720766dup | CA2411007809 | SHANK3 | c.2534dup (p.Gly846ArgfsTer?) n.3118dup c.1586dup (p.Gly530ArgfsTer?) c.1076dup (p.Gly360ArgfsTer?) c.*1532dup (n.*1532dup) c.2930dup (p.Gly978ArgfsTer?) c.2912dup (p.Gly972ArgfsTer?) | dbSNP |
22 | g.50720766G>A | CA515260227 | SHANK3 | c.2534G>A (p.Gly845Asp) n.3118G>A c.1586G>A (p.Gly529Asp) c.1076G>A (p.Gly359Asp) c.*1532G>A (n.*1532G>A) c.2930G>A (p.Gly977Asp) c.2912G>A (p.Gly971Asp) | gnomAD v4 |
22 | g.50720766G>C | CA515260228 | SHANK3 | c.2534G>C (p.Gly845Ala) n.3118G>C c.1586G>C (p.Gly529Ala) c.1076G>C (p.Gly359Ala) c.*1532G>C (n.*1532G>C) c.2930G>C (p.Gly977Ala) c.2912G>C (p.Gly971Ala) | |
22 | g.50720766G>T | CA515260229 | SHANK3 | c.2534G>T (p.Gly845Val) n.3118G>T c.1586G>T (p.Gly529Val) c.1076G>T (p.Gly359Val) c.*1532G>T (n.*1532G>T) c.2930G>T (p.Gly977Val) c.2912G>T (p.Gly971Val) | gnomAD v4 |
22 | g.50720767del | CA2657583402 | SHANK3 | c.2535del (p.Gly846AlafsTer?) n.3119del c.1587del (p.Gly530AlafsTer?) c.1077del (p.Gly360AlafsTer?) c.*1533del (n.*1533del) c.2931del (p.Gly978AlafsTer?) c.2913del (p.Gly972AlafsTer?) | gnomAD v4 |
22 | g.50720767C>A | CA515260230 | SHANK3 | c.2535C>A (p.Gly845=) n.3119C>A c.1587C>A (p.Gly529=) c.1077C>A (p.Gly359=) c.*1533C>A (n.*1533C>A) c.2931C>A (p.Gly977=) c.2913C>A (p.Gly971=) | gnomAD v4 |
22 | g.50720767C= | CA2411007810 | SHANK3 | c.2535C= (p.Gly845=) n.3119C= c.1587C= (p.Gly529=) c.1077C= (p.Gly359=) c.*1533C= (n.*1533C=) c.2931C= (p.Gly977=) c.2913C= (p.Gly971=) | |
22 | g.50720767C>G | CA515260231 | SHANK3 | c.2535C>G (p.Gly845=) n.3119C>G c.1587C>G (p.Gly529=) c.1077C>G (p.Gly359=) c.*1533C>G (n.*1533C>G) c.2931C>G (p.Gly977=) c.2913C>G (p.Gly971=) | dbSNP |
22 | g.50720767C>T | CA515260232 | SHANK3 | c.2535C>T (p.Gly845=) n.3119C>T c.1587C>T (p.Gly529=) c.1077C>T (p.Gly359=) c.*1533C>T (n.*1533C>T) c.2931C>T (p.Gly977=) c.2913C>T (p.Gly971=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720767_50720787delinsGGCAG | CA2580099958 | SHANK3 | c.2535_2555delinsGGCAG (p.Gly846AlafsTer?) n.3119_3139delinsGGCAG c.1587_1607delinsGGCAG (p.Gly530AlafsTer?) c.1077_1097delinsGGCAG (p.Gly360AlafsTer?) c.*1533_*1553delinsGGCAG (n.*1533_*1553delinsGGCAG) c.2931_2951delinsGGCAG (p.Gly978AlafsTer?) c.2913_2933delinsGGCAG (p.Gly972AlafsTer?) | ClinVar dbSNP |
22 | g.50720768G>A | CA515260236 | SHANK3 | c.2536G>A (p.Gly846Ser) n.3120G>A c.1588G>A (p.Gly530Ser) c.1078G>A (p.Gly360Ser) c.*1534G>A (n.*1534G>A) c.2932G>A (p.Gly978Ser) c.2914G>A (p.Gly972Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720768G>C | CA515260235 | SHANK3 | c.2536G>C (p.Gly846Arg) n.3120G>C c.1588G>C (p.Gly530Arg) c.1078G>C (p.Gly360Arg) c.*1534G>C (n.*1534G>C) c.2932G>C (p.Gly978Arg) c.2914G>C (p.Gly972Arg) | gnomAD v4 |
22 | g.50720768G= | CA2411007812 | SHANK3 | c.2536G= (p.Gly846=) n.3120G= c.1588G= (p.Gly530=) c.1078G= (p.Gly360=) c.*1534G= (n.*1534G=) c.2932G= (p.Gly978=) c.2914G= (p.Gly972=) | |
22 | g.50720768G>T | CA515260233 | SHANK3 | c.2536G>T (p.Gly846Cys) n.3120G>T c.1588G>T (p.Gly530Cys) c.1078G>T (p.Gly360Cys) c.*1534G>T (n.*1534G>T) c.2932G>T (p.Gly978Cys) c.2914G>T (p.Gly972Cys) | gnomAD v4 |
22 | g.50720768_50720771delinsGGCA | CA2411007811 | SHANK3 | c.2536_2539delinsGGCA (p.Gly846=) n.3120_3123delinsGGCA c.1588_1591delinsGGCA (p.Gly530=) c.1078_1081delinsGGCA (p.Gly360=) c.*1534_*1537delinsGGCA (n.*1534_*1537delinsGGCA) c.2932_2935delinsGGCA (p.Gly978=) c.2914_2917delinsGGCA (p.Gly972=) | |
22 | g.50720769G>A | CA515260237 | SHANK3 | c.2537G>A (p.Gly846Asp) n.3121G>A c.1589G>A (p.Gly530Asp) c.1079G>A (p.Gly360Asp) c.*1535G>A (n.*1535G>A) c.2933G>A (p.Gly978Asp) c.2915G>A (p.Gly972Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720769G>C | CA515260238 | SHANK3 | c.2537G>C (p.Gly846Ala) n.3121G>C c.1589G>C (p.Gly530Ala) c.1079G>C (p.Gly360Ala) c.*1535G>C (n.*1535G>C) c.2933G>C (p.Gly978Ala) c.2915G>C (p.Gly972Ala) | gnomAD v4 |
22 | g.50720769G= | CA2411007813 | SHANK3 | c.2537G= (p.Gly846=) n.3121G= c.1589G= (p.Gly530=) c.1079G= (p.Gly360=) c.*1535G= (n.*1535G=) c.2933G= (p.Gly978=) c.2915G= (p.Gly972=) | |
22 | g.50720769G>T | CA515260239 | SHANK3 | c.2537G>T (p.Gly846Val) n.3121G>T c.1589G>T (p.Gly530Val) c.1079G>T (p.Gly360Val) c.*1535G>T (n.*1535G>T) c.2933G>T (p.Gly978Val) c.2915G>T (p.Gly972Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720769_50720773delinsGCAGC | CA2411007814 | SHANK3 | c.2537_2541delinsGCAGC (p.Gly846=) n.3121_3125delinsGCAGC c.1589_1593delinsGCAGC (p.Gly530=) c.1079_1083delinsGCAGC (p.Gly360=) c.*1535_*1539delinsGCAGC (n.*1535_*1539delinsGCAGC) c.2933_2937delinsGCAGC (p.Gly978=) c.2915_2919delinsGCAGC (p.Gly972=) | |
22 | g.50720771_50720773dup | CA2657583403 | SHANK3 | c.2539_2541dup (p.Ser847_Phe848insSer) n.3123_3125dup c.1591_1593dup (p.Ser531_Phe532insSer) c.1081_1083dup (p.Ser361_Phe362insSer) c.*1537_*1539dup (n.*1537_*1539dup) c.2935_2937dup (p.Ser979_Phe980insSer) c.2917_2919dup (p.Ser973_Phe974insSer) | gnomAD v4 |
22 | g.50720771_50720773del | CA754092984 | SHANK3 | c.2539_2541del (p.Ser847del) n.3123_3125del c.1591_1593del (p.Ser531del) c.1081_1083del (p.Ser361del) c.*1537_*1539del (n.*1537_*1539del) c.2935_2937del (p.Ser979del) c.2917_2919del (p.Ser973del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720770C>A | CA515260240 | SHANK3 | c.2538C>A (p.Gly846=) n.3122C>A c.1590C>A (p.Gly530=) c.1080C>A (p.Gly360=) c.*1536C>A (n.*1536C>A) c.2934C>A (p.Gly978=) c.2916C>A (p.Gly972=) | gnomAD v4 |
22 | g.50720770C= | CA2411007815 | SHANK3 | c.2538C= (p.Gly846=) n.3122C= c.1590C= (p.Gly530=) c.1080C= (p.Gly360=) c.*1536C= (n.*1536C=) c.2934C= (p.Gly978=) c.2916C= (p.Gly972=) | |
22 | g.50720770C>G | CA515260241 | SHANK3 | c.2538C>G (p.Gly846=) n.3122C>G c.1590C>G (p.Gly530=) c.1080C>G (p.Gly360=) c.*1536C>G (n.*1536C>G) c.2934C>G (p.Gly978=) c.2916C>G (p.Gly972=) | gnomAD v4 |
22 | g.50720770C>T | CA515260242 | SHANK3 | c.2538C>T (p.Gly846=) n.3122C>T c.1590C>T (p.Gly530=) c.1080C>T (p.Gly360=) c.*1536C>T (n.*1536C>T) c.2934C>T (p.Gly978=) c.2916C>T (p.Gly972=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720770_50720773del | CA1139667200 | SHANK3 | c.2538_2541del (p.Phe848ProfsTer?) n.3122_3125del c.1590_1593del (p.Phe532ProfsTer?) c.1080_1083del (p.Phe362ProfsTer?) c.*1536_*1539del (n.*1536_*1539del) c.2934_2937del (p.Phe980ProfsTer?) c.2916_2919del (p.Phe974ProfsTer?) | ClinVar dbSNP |
22 | g.50720771A= | CA2411007816 | SHANK3 | c.2539A= (p.Ser847=) n.3123A= c.1591A= (p.Ser531=) c.1081A= (p.Ser361=) c.*1537A= (n.*1537A=) c.2935A= (p.Ser979=) c.2917A= (p.Ser973=) | |
22 | g.50720771A>C | CA515260243 | SHANK3 | c.2539A>C (p.Ser847Arg) n.3123A>C c.1591A>C (p.Ser531Arg) c.1081A>C (p.Ser361Arg) c.*1537A>C (n.*1537A>C) c.2935A>C (p.Ser979Arg) c.2917A>C (p.Ser973Arg) | gnomAD v4 |
22 | g.50720771A>G | CA10325940 | SHANK3 | c.2539A>G (p.Ser847Gly) n.3123A>G c.1591A>G (p.Ser531Gly) c.1081A>G (p.Ser361Gly) c.*1537A>G (n.*1537A>G) c.2935A>G (p.Ser979Gly) c.2917A>G (p.Ser973Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720771A>T | CA515260245 | SHANK3 | c.2539A>T (p.Ser847Cys) n.3123A>T c.1591A>T (p.Ser531Cys) c.1081A>T (p.Ser361Cys) c.*1537A>T (n.*1537A>T) c.2935A>T (p.Ser979Cys) c.2917A>T (p.Ser973Cys) | |
22 | g.50720772G>A | CA515260246 | SHANK3 | c.2540G>A (p.Ser847Asn) n.3124G>A c.1592G>A (p.Ser531Asn) c.1082G>A (p.Ser361Asn) c.*1538G>A (n.*1538G>A) c.2936G>A (p.Ser979Asn) c.2918G>A (p.Ser973Asn) | gnomAD v4 |
22 | g.50720772G>C | CA515260247 | SHANK3 | c.2540G>C (p.Ser847Thr) n.3124G>C c.1592G>C (p.Ser531Thr) c.1082G>C (p.Ser361Thr) c.*1538G>C (n.*1538G>C) c.2936G>C (p.Ser979Thr) c.2918G>C (p.Ser973Thr) | gnomAD v4 |
22 | g.50720772G>T | CA515260248 | SHANK3 | c.2540G>T (p.Ser847Ile) n.3124G>T c.1592G>T (p.Ser531Ile) c.1082G>T (p.Ser361Ile) c.*1538G>T (n.*1538G>T) c.2936G>T (p.Ser979Ile) c.2918G>T (p.Ser973Ile) | gnomAD v4 |
22 | g.50720773C>A | CA515260251 | SHANK3 | c.2541C>A (p.Ser847Arg) n.3125C>A c.1593C>A (p.Ser531Arg) c.1083C>A (p.Ser361Arg) c.*1539C>A (n.*1539C>A) c.2937C>A (p.Ser979Arg) c.2919C>A (p.Ser973Arg) | gnomAD v4 |
22 | g.50720773C= | CA2411007817 | SHANK3 | c.2541C= (p.Ser847=) n.3125C= c.1593C= (p.Ser531=) c.1083C= (p.Ser361=) c.*1539C= (n.*1539C=) c.2937C= (p.Ser979=) c.2919C= (p.Ser973=) | |
22 | g.50720773C>G | CA515260250 | SHANK3 | c.2541C>G (p.Ser847Arg) n.3125C>G c.1593C>G (p.Ser531Arg) c.1083C>G (p.Ser361Arg) c.*1539C>G (n.*1539C>G) c.2937C>G (p.Ser979Arg) c.2919C>G (p.Ser973Arg) | gnomAD v4 |
22 | g.50720773C>T | CA515260249 | SHANK3 | c.2541C>T (p.Ser847=) n.3125C>T c.1593C>T (p.Ser531=) c.1083C>T (p.Ser361=) c.*1539C>T (n.*1539C>T) c.2937C>T (p.Ser979=) c.2919C>T (p.Ser973=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720774T>A | CA515260252 | SHANK3 | c.2542T>A (p.Phe848Ile) n.3126T>A c.1594T>A (p.Phe532Ile) c.1084T>A (p.Phe362Ile) c.*1540T>A (n.*1540T>A) c.2938T>A (p.Phe980Ile) c.2920T>A (p.Phe974Ile) | gnomAD v4 |
22 | g.50720774T>C | CA515260253 | SHANK3 | c.2542T>C (p.Phe848Leu) n.3126T>C c.1594T>C (p.Phe532Leu) c.1084T>C (p.Phe362Leu) c.*1540T>C (n.*1540T>C) c.2938T>C (p.Phe980Leu) c.2920T>C (p.Phe974Leu) | gnomAD v4 |
22 | g.50720774T>G | CA515260254 | SHANK3 | c.2542T>G (p.Phe848Val) n.3126T>G c.1594T>G (p.Phe532Val) c.1084T>G (p.Phe362Val) c.*1540T>G (n.*1540T>G) c.2938T>G (p.Phe980Val) c.2920T>G (p.Phe974Val) | |
22 | g.50720775T>A | CA515260255 | SHANK3 | c.2543T>A (p.Phe848Tyr) n.3127T>A c.1595T>A (p.Phe532Tyr) c.1085T>A (p.Phe362Tyr) c.*1541T>A (n.*1541T>A) c.2939T>A (p.Phe980Tyr) c.2921T>A (p.Phe974Tyr) | |
22 | g.50720775T>C | CA515260256 | SHANK3 | c.2543T>C (p.Phe848Ser) n.3127T>C c.1595T>C (p.Phe532Ser) c.1085T>C (p.Phe362Ser) c.*1541T>C (n.*1541T>C) c.2939T>C (p.Phe980Ser) c.2921T>C (p.Phe974Ser) | gnomAD v4 |
22 | g.50720775T>G | CA515260257 | SHANK3 | c.2543T>G (p.Phe848Cys) n.3127T>G c.1595T>G (p.Phe532Cys) c.1085T>G (p.Phe362Cys) c.*1541T>G (n.*1541T>G) c.2939T>G (p.Phe980Cys) c.2921T>G (p.Phe974Cys) | |
22 | g.50720776C>A | CA515260260 | SHANK3 | c.2544C>A (p.Phe848Leu) n.3128C>A c.1596C>A (p.Phe532Leu) c.1086C>A (p.Phe362Leu) c.*1542C>A (n.*1542C>A) c.2940C>A (p.Phe980Leu) c.2922C>A (p.Phe974Leu) | gnomAD v4 |
22 | g.50720776C= | CA2411007818 | SHANK3 | c.2544C= (p.Phe848=) n.3128C= c.1596C= (p.Phe532=) c.1086C= (p.Phe362=) c.*1542C= (n.*1542C=) c.2940C= (p.Phe980=) c.2922C= (p.Phe974=) | |
22 | g.50720776C>G | CA515260259 | SHANK3 | c.2544C>G (p.Phe848Leu) n.3128C>G c.1596C>G (p.Phe532Leu) c.1086C>G (p.Phe362Leu) c.*1542C>G (n.*1542C>G) c.2940C>G (p.Phe980Leu) c.2922C>G (p.Phe974Leu) | gnomAD v4 |
22 | g.50720776C>T | CA515260258 | SHANK3 | c.2544C>T (p.Phe848=) n.3128C>T c.1596C>T (p.Phe532=) c.1086C>T (p.Phe362=) c.*1542C>T (n.*1542C>T) c.2940C>T (p.Phe980=) c.2922C>T (p.Phe974=) | dbSNP gnomAD v4 |
22 | g.50720779_50720782del | CA891842416 | SHANK3 | c.2547_2550del (p.Arg850SerfsTer?) n.3131_3134del c.1599_1602del (p.Arg534SerfsTer?) c.1089_1092del (p.Arg364SerfsTer?) c.*1545_*1548del (n.*1545_*1548del) c.2943_2946del (p.Arg982SerfsTer?) c.2925_2928del (p.Arg976SerfsTer?) | |
22 | g.50720782_50720815del | CA2819316027 | SHANK3 | c.2550_2583del (p.Glu851ValfsTer?) n.3134_3167del c.1602_1635del (p.Glu535ValfsTer?) c.1092_1125del (p.Glu365ValfsTer?) c.*1548_*1581del (n.*1548_*1581del) c.2946_2979del (p.Glu983ValfsTer?) c.2928_2961del (p.Glu977ValfsTer?) | |
22 | g.50720777G>A | CA515260261 | SHANK3 | c.2545G>A (p.Ala849Thr) n.3129G>A c.1597G>A (p.Ala533Thr) c.1087G>A (p.Ala363Thr) c.*1543G>A (n.*1543G>A) c.2941G>A (p.Ala981Thr) c.2923G>A (p.Ala975Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720777G>C | CA515260262 | SHANK3 | c.2545G>C (p.Ala849Pro) n.3129G>C c.1597G>C (p.Ala533Pro) c.1087G>C (p.Ala363Pro) c.*1543G>C (n.*1543G>C) c.2941G>C (p.Ala981Pro) c.2923G>C (p.Ala975Pro) | gnomAD v4 |
22 | g.50720777G= | CA2411007819 | SHANK3 | c.2545G= (p.Ala849=) n.3129G= c.1597G= (p.Ala533=) c.1087G= (p.Ala363=) c.*1543G= (n.*1543G=) c.2941G= (p.Ala981=) c.2923G= (p.Ala975=) | |
22 | g.50720777G>T | CA515260263 | SHANK3 | c.2545G>T (p.Ala849Ser) n.3129G>T c.1597G>T (p.Ala533Ser) c.1087G>T (p.Ala363Ser) c.*1543G>T (n.*1543G>T) c.2941G>T (p.Ala981Ser) c.2923G>T (p.Ala975Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720778C>A | CA515260264 | SHANK3 | c.2546C>A (p.Ala849Asp) n.3130C>A c.1598C>A (p.Ala533Asp) c.1088C>A (p.Ala363Asp) c.*1544C>A (n.*1544C>A) c.2942C>A (p.Ala981Asp) c.2924C>A (p.Ala975Asp) | gnomAD v3 gnomAD v4 |
22 | g.50720778C= | CA2411007820 | SHANK3 | c.2546C= (p.Ala849=) n.3130C= c.1598C= (p.Ala533=) c.1088C= (p.Ala363=) c.*1544C= (n.*1544C=) c.2942C= (p.Ala981=) c.2924C= (p.Ala975=) | |
22 | g.50720778C>G | CA515260265 | SHANK3 | c.2546C>G (p.Ala849Gly) n.3130C>G c.1598C>G (p.Ala533Gly) c.1088C>G (p.Ala363Gly) c.*1544C>G (n.*1544C>G) c.2942C>G (p.Ala981Gly) c.2924C>G (p.Ala975Gly) | gnomAD v4 |
22 | g.50720778C>T | CA10325941 | SHANK3 | c.2546C>T (p.Ala849Val) n.3130C>T c.1598C>T (p.Ala533Val) c.1088C>T (p.Ala363Val) c.*1544C>T (n.*1544C>T) c.2942C>T (p.Ala981Val) c.2924C>T (p.Ala975Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720780del | CA2657583404 | SHANK3 | c.2548del (p.Arg850AlafsTer?) n.3132del c.1600del (p.Arg534AlafsTer?) c.1090del (p.Arg364AlafsTer?) c.*1546del (n.*1546del) c.2944del (p.Arg982AlafsTer?) c.2926del (p.Arg976AlafsTer?) | gnomAD v4 |
22 | g.50720779C>A | CA515260266 | SHANK3 | c.2547C>A (p.Ala849=) n.3131C>A c.1599C>A (p.Ala533=) c.1089C>A (p.Ala363=) c.*1545C>A (n.*1545C>A) c.2943C>A (p.Ala981=) c.2925C>A (p.Ala975=) | gnomAD v4 |
22 | g.50720779C= | CA2411007821 | SHANK3 | c.2547C= (p.Ala849=) n.3131C= c.1599C= (p.Ala533=) c.1089C= (p.Ala363=) c.*1545C= (n.*1545C=) c.2943C= (p.Ala981=) c.2925C= (p.Ala975=) | |
22 | g.50720779C>G | CA515260267 | SHANK3 | c.2547C>G (p.Ala849=) n.3131C>G c.1599C>G (p.Ala533=) c.1089C>G (p.Ala363=) c.*1545C>G (n.*1545C>G) c.2943C>G (p.Ala981=) c.2925C>G (p.Ala975=) | gnomAD v4 |
22 | g.50720779C>T | CA10325942 | SHANK3 | c.2547C>T (p.Ala849=) n.3131C>T c.1599C>T (p.Ala533=) c.1089C>T (p.Ala363=) c.*1545C>T (n.*1545C>T) c.2943C>T (p.Ala981=) c.2925C>T (p.Ala975=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720784_50720804dup | CA2657583405 | SHANK3 | c.2552_2572dup (p.Arg857_Gly858insGluProSerProThrHisArg) n.3136_3156dup c.1604_1624dup (p.Arg541_Gly542insGluProSerProThrHisArg) c.1094_1114dup (p.Arg371_Gly372insGluProSerProThrHisArg) c.*1550_*1570dup (n.*1550_*1570dup) c.2948_2968dup (p.Arg989_Gly990insGluProSerProThrHisArg) c.2930_2950dup (p.Arg983_Gly984insGluProSerProThrHisArg) | gnomAD v4 |
22 | g.50720780C>A | CA515260268 | SHANK3 | c.2548C>A (p.Arg850Ser) n.3132C>A c.1600C>A (p.Arg534Ser) c.1090C>A (p.Arg364Ser) c.*1546C>A (n.*1546C>A) c.2944C>A (p.Arg982Ser) c.2926C>A (p.Arg976Ser) | gnomAD v3 gnomAD v4 |
22 | g.50720780C>G | CA515260269 | SHANK3 | c.2548C>G (p.Arg850Gly) n.3132C>G c.1600C>G (p.Arg534Gly) c.1090C>G (p.Arg364Gly) c.*1546C>G (n.*1546C>G) c.2944C>G (p.Arg982Gly) c.2926C>G (p.Arg976Gly) | gnomAD v4 |
22 | g.50720780C>T | CA515260270 | SHANK3 | c.2548C>T (p.Arg850Cys) n.3132C>T c.1600C>T (p.Arg534Cys) c.1090C>T (p.Arg364Cys) c.*1546C>T (n.*1546C>T) c.2944C>T (p.Arg982Cys) c.2926C>T (p.Arg976Cys) | gnomAD v4 |
22 | g.50720781del | CA2657583406 | SHANK3 | c.2549del (p.Arg850ProfsTer?) n.3133del c.1601del (p.Arg534ProfsTer?) c.1091del (p.Arg364ProfsTer?) c.*1547del (n.*1547del) c.2945del (p.Arg982ProfsTer?) c.2927del (p.Arg976ProfsTer?) | gnomAD v4 |
22 | g.50720781G>A | CA515260271 | SHANK3 | c.2549G>A (p.Arg850His) n.3133G>A c.1601G>A (p.Arg534His) c.1091G>A (p.Arg364His) c.*1547G>A (n.*1547G>A) c.2945G>A (p.Arg982His) c.2927G>A (p.Arg976His) | dbSNP gnomAD v4 |
22 | g.50720781G>C | CA325578280 | SHANK3 | c.2549G>C (p.Arg850Pro) n.3133G>C c.1601G>C (p.Arg534Pro) c.1091G>C (p.Arg364Pro) c.*1547G>C (n.*1547G>C) c.2945G>C (p.Arg982Pro) c.2927G>C (p.Arg976Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720781G= | CA2411007822 | SHANK3 | c.2549G= (p.Arg850=) n.3133G= c.1601G= (p.Arg534=) c.1091G= (p.Arg364=) c.*1547G= (n.*1547G=) c.2945G= (p.Arg982=) c.2927G= (p.Arg976=) | |
22 | g.50720781G>T | CA515260272 | SHANK3 | c.2549G>T (p.Arg850Leu) n.3133G>T c.1601G>T (p.Arg534Leu) c.1091G>T (p.Arg364Leu) c.*1547G>T (n.*1547G>T) c.2945G>T (p.Arg982Leu) c.2927G>T (p.Arg976Leu) | gnomAD v4 |
22 | g.50720782C>A | CA515260273 | SHANK3 | c.2550C>A (p.Arg850=) n.3134C>A c.1602C>A (p.Arg534=) c.1092C>A (p.Arg364=) c.*1548C>A (n.*1548C>A) c.2946C>A (p.Arg982=) c.2928C>A (p.Arg976=) | dbSNP gnomAD v4 |
22 | g.50720782C= | CA2411007823 | SHANK3 | c.2550C= (p.Arg850=) n.3134C= c.1602C= (p.Arg534=) c.1092C= (p.Arg364=) c.*1548C= (n.*1548C=) c.2946C= (p.Arg982=) c.2928C= (p.Arg976=) | |
22 | g.50720782C>G | CA515260274 | SHANK3 | c.2550C>G (p.Arg850=) n.3134C>G c.1602C>G (p.Arg534=) c.1092C>G (p.Arg364=) c.*1548C>G (n.*1548C>G) c.2946C>G (p.Arg982=) c.2928C>G (p.Arg976=) | gnomAD v4 |
22 | g.50720782C>T | CA515260275 | SHANK3 | c.2550C>T (p.Arg850=) n.3134C>T c.1602C>T (p.Arg534=) c.1092C>T (p.Arg364=) c.*1548C>T (n.*1548C>T) c.2946C>T (p.Arg982=) c.2928C>T (p.Arg976=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720783G>A | CA515260276 | SHANK3 | c.2551G>A (p.Glu851Lys) n.3135G>A c.1603G>A (p.Glu535Lys) c.1093G>A (p.Glu365Lys) c.*1549G>A (n.*1549G>A) c.2947G>A (p.Glu983Lys) c.2929G>A (p.Glu977Lys) | dbSNP gnomAD v4 |
22 | g.50720783G>C | CA515260277 | SHANK3 | c.2551G>C (p.Glu851Gln) n.3135G>C c.1603G>C (p.Glu535Gln) c.1093G>C (p.Glu365Gln) c.*1549G>C (n.*1549G>C) c.2947G>C (p.Glu983Gln) c.2929G>C (p.Glu977Gln) | gnomAD v4 |
22 | g.50720783G= | CA2411007824 | SHANK3 | c.2551G= (p.Glu851=) n.3135G= c.1603G= (p.Glu535=) c.1093G= (p.Glu365=) c.*1549G= (n.*1549G=) c.2947G= (p.Glu983=) c.2929G= (p.Glu977=) | |
22 | g.50720783G>T | CA515260278 | SHANK3 | c.2551G>T (p.Glu851Ter) n.3135G>T c.1603G>T (p.Glu535Ter) c.1093G>T (p.Glu365Ter) c.*1549G>T (n.*1549G>T) c.2947G>T (p.Glu983Ter) c.2929G>T (p.Glu977Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.50720784A>C | CA515260279 | SHANK3 | c.2552A>C (p.Glu851Ala) n.3136A>C c.1604A>C (p.Glu535Ala) c.1094A>C (p.Glu365Ala) c.*1550A>C (n.*1550A>C) c.2948A>C (p.Glu983Ala) c.2930A>C (p.Glu977Ala) | |
22 | g.50720784A>G | CA515260281 | SHANK3 | c.2552A>G (p.Glu851Gly) n.3136A>G c.1604A>G (p.Glu535Gly) c.1094A>G (p.Glu365Gly) c.*1550A>G (n.*1550A>G) c.2948A>G (p.Glu983Gly) c.2930A>G (p.Glu977Gly) | gnomAD v4 |
22 | g.50720784A>T | CA515260280 | SHANK3 | c.2552A>T (p.Glu851Val) n.3136A>T c.1604A>T (p.Glu535Val) c.1094A>T (p.Glu365Val) c.*1550A>T (n.*1550A>T) c.2948A>T (p.Glu983Val) c.2930A>T (p.Glu977Val) | |
22 | g.50720785G>A | CA515260282 | SHANK3 | c.2553G>A (p.Glu851=) n.3137G>A c.1605G>A (p.Glu535=) c.1095G>A (p.Glu365=) c.*1551G>A (n.*1551G>A) c.2949G>A (p.Glu983=) c.2931G>A (p.Glu977=) | gnomAD v4 |
22 | g.50720785G>C | CA515260283 | SHANK3 | c.2553G>C (p.Glu851Asp) n.3137G>C c.1605G>C (p.Glu535Asp) c.1095G>C (p.Glu365Asp) c.*1551G>C (n.*1551G>C) c.2949G>C (p.Glu983Asp) c.2931G>C (p.Glu977Asp) | gnomAD v4 |
22 | g.50720785G>T | CA515260284 | SHANK3 | c.2553G>T (p.Glu851Asp) n.3137G>T c.1605G>T (p.Glu535Asp) c.1095G>T (p.Glu365Asp) c.*1551G>T (n.*1551G>T) c.2949G>T (p.Glu983Asp) c.2931G>T (p.Glu977Asp) | gnomAD v4 |
22 | g.50720786C>A | CA515260285 | SHANK3 | c.2554C>A (p.Pro852Thr) n.3138C>A c.1606C>A (p.Pro536Thr) c.1096C>A (p.Pro366Thr) c.*1552C>A (n.*1552C>A) c.2950C>A (p.Pro984Thr) c.2932C>A (p.Pro978Thr) | dbSNP gnomAD v4 |
22 | g.50720786C= | CA2411007825 | SHANK3 | c.2554C= (p.Pro852=) n.3138C= c.1606C= (p.Pro536=) c.1096C= (p.Pro366=) c.*1552C= (n.*1552C=) c.2950C= (p.Pro984=) c.2932C= (p.Pro978=) | |
22 | g.50720786C>G | CA515260286 | SHANK3 | c.2554C>G (p.Pro852Ala) n.3138C>G c.1606C>G (p.Pro536Ala) c.1096C>G (p.Pro366Ala) c.*1552C>G (n.*1552C>G) c.2950C>G (p.Pro984Ala) c.2932C>G (p.Pro978Ala) | gnomAD v4 |
22 | g.50720786C>T | CA515260287 | SHANK3 | c.2554C>T (p.Pro852Ser) n.3138C>T c.1606C>T (p.Pro536Ser) c.1096C>T (p.Pro366Ser) c.*1552C>T (n.*1552C>T) c.2950C>T (p.Pro984Ser) c.2932C>T (p.Pro978Ser) | gnomAD v4 |
22 | g.50720788dup | CA2657583407 | SHANK3 | c.2556dup (p.Ser853LeufsTer?) n.3140dup c.1608dup (p.Ser537LeufsTer?) c.1098dup (p.Ser367LeufsTer?) c.*1554dup (n.*1554dup) c.2952dup (p.Ser985LeufsTer?) c.2934dup (p.Ser979LeufsTer?) | gnomAD v4 |
22 | g.50720788del | CA2657583408 | SHANK3 | c.2556del (p.Ser853ProfsTer?) n.3140del c.1608del (p.Ser537ProfsTer?) c.1098del (p.Ser367ProfsTer?) c.*1554del (n.*1554del) c.2952del (p.Ser985ProfsTer?) c.2934del (p.Ser979ProfsTer?) | gnomAD v4 |
22 | g.50720787C>A | CA515260288 | SHANK3 | c.2555C>A (p.Pro852His) n.3139C>A c.1607C>A (p.Pro536His) c.1097C>A (p.Pro366His) c.*1553C>A (n.*1553C>A) c.2951C>A (p.Pro984His) c.2933C>A (p.Pro978His) | gnomAD v4 |
22 | g.50720787C>G | CA515260289 | SHANK3 | c.2555C>G (p.Pro852Arg) n.3139C>G c.1607C>G (p.Pro536Arg) c.1097C>G (p.Pro366Arg) c.*1553C>G (n.*1553C>G) c.2951C>G (p.Pro984Arg) c.2933C>G (p.Pro978Arg) | |
22 | g.50720787C>T | CA515260290 | SHANK3 | c.2555C>T (p.Pro852Leu) n.3139C>T c.1607C>T (p.Pro536Leu) c.1097C>T (p.Pro366Leu) c.*1553C>T (n.*1553C>T) c.2951C>T (p.Pro984Leu) c.2933C>T (p.Pro978Leu) | gnomAD v4 |
22 | g.50720788C>A | CA515260291 | SHANK3 | c.2556C>A (p.Pro852=) n.3140C>A c.1608C>A (p.Pro536=) c.1098C>A (p.Pro366=) c.*1554C>A (n.*1554C>A) c.2952C>A (p.Pro984=) c.2934C>A (p.Pro978=) | gnomAD v4 |
22 | g.50720788C= | CA2411007826 | SHANK3 | c.2556C= (p.Pro852=) n.3140C= c.1608C= (p.Pro536=) c.1098C= (p.Pro366=) c.*1554C= (n.*1554C=) c.2952C= (p.Pro984=) c.2934C= (p.Pro978=) | |
22 | g.50720788C>G | CA515260292 | SHANK3 | c.2556C>G (p.Pro852=) n.3140C>G c.1608C>G (p.Pro536=) c.1098C>G (p.Pro366=) c.*1554C>G (n.*1554C>G) c.2952C>G (p.Pro984=) c.2934C>G (p.Pro978=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720788C>T | CA325578299 | SHANK3 | c.2556C>T (p.Pro852=) n.3140C>T c.1608C>T (p.Pro536=) c.1098C>T (p.Pro366=) c.*1554C>T (n.*1554C>T) c.2952C>T (p.Pro984=) c.2934C>T (p.Pro978=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720795_50720796insGCTCTCCCCGA | CA2580099961 | SHANK3 | c.2563_2564insGCTCTCCCCGA (p.Thr855SerfsTer?) n.3147_3148insGCTCTCCCCGA c.1615_1616insGCTCTCCCCGA (p.Thr539SerfsTer?) c.1105_1106insGCTCTCCCCGA (p.Thr369SerfsTer?) c.*1561_*1562insGCTCTCCCCGA (n.*1561_*1562insGCTCTCCCCGA) c.2959_2960insGCTCTCCCCGA (p.Thr987SerfsTer?) c.2941_2942insGCTCTCCCCGA (p.Thr981SerfsTer?) | ClinVar |
22 | g.50720789del | CA2657583409 | SHANK3 | c.2557del (p.Ser853ProfsTer?) n.3141del c.1609del (p.Ser537ProfsTer?) c.1099del (p.Ser367ProfsTer?) c.*1555del (n.*1555del) c.2953del (p.Ser985ProfsTer?) c.2935del (p.Ser979ProfsTer?) | gnomAD v4 |
22 | g.50720789T>A | CA515260295 | SHANK3 | c.2557T>A (p.Ser853Thr) n.3141T>A c.1609T>A (p.Ser537Thr) c.1099T>A (p.Ser367Thr) c.*1555T>A (n.*1555T>A) c.2953T>A (p.Ser985Thr) c.2935T>A (p.Ser979Thr) | |
22 | g.50720789T>C | CA515260294 | SHANK3 | c.2557T>C (p.Ser853Pro) n.3141T>C c.1609T>C (p.Ser537Pro) c.1099T>C (p.Ser367Pro) c.*1555T>C (n.*1555T>C) c.2953T>C (p.Ser985Pro) c.2935T>C (p.Ser979Pro) | gnomAD v4 |
22 | g.50720789T>G | CA515260293 | SHANK3 | c.2557T>G (p.Ser853Ala) n.3141T>G c.1609T>G (p.Ser537Ala) c.1099T>G (p.Ser367Ala) c.*1555T>G (n.*1555T>G) c.2953T>G (p.Ser985Ala) c.2935T>G (p.Ser979Ala) | |
22 | g.50720789_50720790delinsTC | CA2411007827 | SHANK3 | c.2557_2558delinsTC (p.Ser853=) n.3141_3142delinsTC c.1609_1610delinsTC (p.Ser537=) c.1099_1100delinsTC (p.Ser367=) c.*1555_*1556delinsTC (n.*1555_*1556delinsTC) c.2953_2954delinsTC (p.Ser985=) c.2935_2936delinsTC (p.Ser979=) | |
22 | g.50720790C>A | CA515260296 | SHANK3 | c.2558C>A (p.Ser853Tyr) n.3142C>A c.1610C>A (p.Ser537Tyr) c.1100C>A (p.Ser367Tyr) c.*1556C>A (n.*1556C>A) c.2954C>A (p.Ser985Tyr) c.2936C>A (p.Ser979Tyr) | gnomAD v4 |
22 | g.50720790C>G | CA515260297 | SHANK3 | c.2558C>G (p.Ser853Cys) n.3142C>G c.1610C>G (p.Ser537Cys) c.1100C>G (p.Ser367Cys) c.*1556C>G (n.*1556C>G) c.2954C>G (p.Ser985Cys) c.2936C>G (p.Ser979Cys) | gnomAD v4 |
22 | g.50720790C>T | CA515260298 | SHANK3 | c.2558C>T (p.Ser853Phe) n.3142C>T c.1610C>T (p.Ser537Phe) c.1100C>T (p.Ser367Phe) c.*1556C>T (n.*1556C>T) c.2954C>T (p.Ser985Phe) c.2936C>T (p.Ser979Phe) | gnomAD v4 |
22 | g.50720793del | CA640358969 | SHANK3 | c.2561del (p.Pro854ArgfsTer?) n.3145del c.1613del (p.Pro538ArgfsTer?) c.1103del (p.Pro368ArgfsTer?) c.*1559del (n.*1559del) c.2957del (p.Pro986ArgfsTer?) c.2939del (p.Pro980ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720792_50720793del | CA2819316045 | SHANK3 | c.2560_2561del (p.Pro854AspfsTer?) n.3144_3145del c.1612_1613del (p.Pro538AspfsTer?) c.1102_1103del (p.Pro368AspfsTer?) c.*1558_*1559del (n.*1558_*1559del) c.2956_2957del (p.Pro986AspfsTer?) c.2938_2939del (p.Pro980AspfsTer?) | |
22 | g.50720791C>A | CA515260299 | SHANK3 | c.2559C>A (p.Ser853=) n.3143C>A c.1611C>A (p.Ser537=) c.1101C>A (p.Ser367=) c.*1557C>A (n.*1557C>A) c.2955C>A (p.Ser985=) c.2937C>A (p.Ser979=) | gnomAD v4 |
22 | g.50720791C= | CA2411007828 | SHANK3 | c.2559C= (p.Ser853=) n.3143C= c.1611C= (p.Ser537=) c.1101C= (p.Ser367=) c.*1557C= (n.*1557C=) c.2955C= (p.Ser985=) c.2937C= (p.Ser979=) | |
22 | g.50720791C>G | CA515260300 | SHANK3 | c.2559C>G (p.Ser853=) n.3143C>G c.1611C>G (p.Ser537=) c.1101C>G (p.Ser367=) c.*1557C>G (n.*1557C>G) c.2955C>G (p.Ser985=) c.2937C>G (p.Ser979=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720791C>T | CA515260301 | SHANK3 | c.2559C>T (p.Ser853=) n.3143C>T c.1611C>T (p.Ser537=) c.1101C>T (p.Ser367=) c.*1557C>T (n.*1557C>T) c.2955C>T (p.Ser985=) c.2937C>T (p.Ser979=) | gnomAD v4 |
22 | g.50720792C>A | CA515260302 | SHANK3 | c.2560C>A (p.Pro854Thr) n.3144C>A c.1612C>A (p.Pro538Thr) c.1102C>A (p.Pro368Thr) c.*1558C>A (n.*1558C>A) c.2956C>A (p.Pro986Thr) c.2938C>A (p.Pro980Thr) | gnomAD v4 |
22 | g.50720792C>G | CA515260303 | SHANK3 | c.2560C>G (p.Pro854Ala) n.3144C>G c.1612C>G (p.Pro538Ala) c.1102C>G (p.Pro368Ala) c.*1558C>G (n.*1558C>G) c.2956C>G (p.Pro986Ala) c.2938C>G (p.Pro980Ala) | gnomAD v4 |
22 | g.50720792C>T | CA515260304 | SHANK3 | c.2560C>T (p.Pro854Ser) n.3144C>T c.1612C>T (p.Pro538Ser) c.1102C>T (p.Pro368Ser) c.*1558C>T (n.*1558C>T) c.2956C>T (p.Pro986Ser) c.2938C>T (p.Pro980Ser) | gnomAD v4 |
22 | g.50720793C>A | CA515260305 | SHANK3 | c.2561C>A (p.Pro854Gln) n.3145C>A c.1613C>A (p.Pro538Gln) c.1103C>A (p.Pro368Gln) c.*1559C>A (n.*1559C>A) c.2957C>A (p.Pro986Gln) c.2939C>A (p.Pro980Gln) | gnomAD v4 |
22 | g.50720793C>G | CA515260306 | SHANK3 | c.2561C>G (p.Pro854Arg) n.3145C>G c.1613C>G (p.Pro538Arg) c.1103C>G (p.Pro368Arg) c.*1559C>G (n.*1559C>G) c.2957C>G (p.Pro986Arg) c.2939C>G (p.Pro980Arg) | gnomAD v4 |
22 | g.50720793C>T | CA515260307 | SHANK3 | c.2561C>T (p.Pro854Leu) n.3145C>T c.1613C>T (p.Pro538Leu) c.1103C>T (p.Pro368Leu) c.*1559C>T (n.*1559C>T) c.2957C>T (p.Pro986Leu) c.2939C>T (p.Pro980Leu) | gnomAD v4 |
22 | g.50720794G>A | CA515260311 | SHANK3 | c.2562G>A (p.Pro854=) n.3146G>A c.1614G>A (p.Pro538=) c.1104G>A (p.Pro368=) c.*1560G>A (n.*1560G>A) c.2958G>A (p.Pro986=) c.2940G>A (p.Pro980=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720794G>C | CA515260310 | SHANK3 | c.2562G>C (p.Pro854=) n.3146G>C c.1614G>C (p.Pro538=) c.1104G>C (p.Pro368=) c.*1560G>C (n.*1560G>C) c.2958G>C (p.Pro986=) c.2940G>C (p.Pro980=) | |
22 | g.50720794G= | CA2411007829 | SHANK3 | c.2562G= (p.Pro854=) n.3146G= c.1614G= (p.Pro538=) c.1104G= (p.Pro368=) c.*1560G= (n.*1560G=) c.2958G= (p.Pro986=) c.2940G= (p.Pro980=) | |
22 | g.50720794G>T | CA515260309 | SHANK3 | c.2562G>T (p.Pro854=) n.3146G>T c.1614G>T (p.Pro538=) c.1104G>T (p.Pro368=) c.*1560G>T (n.*1560G>T) c.2958G>T (p.Pro986=) c.2940G>T (p.Pro980=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720795A= | CA2411007830 | SHANK3 | c.2563A= (p.Thr855=) n.3147A= c.1615A= (p.Thr539=) c.1105A= (p.Thr369=) c.*1561A= (n.*1561A=) c.2959A= (p.Thr987=) c.2941A= (p.Thr981=) | |
22 | g.50720795A>C | CA515260312 | SHANK3 | c.2563A>C (p.Thr855Pro) n.3147A>C c.1615A>C (p.Thr539Pro) c.1105A>C (p.Thr369Pro) c.*1561A>C (n.*1561A>C) c.2959A>C (p.Thr987Pro) c.2941A>C (p.Thr981Pro) | dbSNP gnomAD v4 |
22 | g.50720795A>G | CA515260314 | SHANK3 | c.2563A>G (p.Thr855Ala) n.3147A>G c.1615A>G (p.Thr539Ala) c.1105A>G (p.Thr369Ala) c.*1561A>G (n.*1561A>G) c.2959A>G (p.Thr987Ala) c.2941A>G (p.Thr981Ala) | dbSNP gnomAD v4 |
22 | g.50720795A>T | CA515260313 | SHANK3 | c.2563A>T (p.Thr855Ser) n.3147A>T c.1615A>T (p.Thr539Ser) c.1105A>T (p.Thr369Ser) c.*1561A>T (n.*1561A>T) c.2959A>T (p.Thr987Ser) c.2941A>T (p.Thr981Ser) | gnomAD v4 |
22 | g.50720796C>A | CA515260315 | SHANK3 | c.2564C>A (p.Thr855Asn) n.3148C>A c.1616C>A (p.Thr539Asn) c.1106C>A (p.Thr369Asn) c.*1562C>A (n.*1562C>A) c.2960C>A (p.Thr987Asn) c.2942C>A (p.Thr981Asn) | gnomAD v4 |
22 | g.50720796C= | CA2411007831 | SHANK3 | c.2564C= (p.Thr855=) n.3148C= c.1616C= (p.Thr539=) c.1106C= (p.Thr369=) c.*1562C= (n.*1562C=) c.2960C= (p.Thr987=) c.2942C= (p.Thr981=) | |
22 | g.50720796C>G | CA515260317 | SHANK3 | c.2564C>G (p.Thr855Ser) n.3148C>G c.1616C>G (p.Thr539Ser) c.1106C>G (p.Thr369Ser) c.*1562C>G (n.*1562C>G) c.2960C>G (p.Thr987Ser) c.2942C>G (p.Thr981Ser) | |
22 | g.50720796C>T | CA515260316 | SHANK3 | c.2564C>T (p.Thr855Ile) n.3148C>T c.1616C>T (p.Thr539Ile) c.1106C>T (p.Thr369Ile) c.*1562C>T (n.*1562C>T) c.2960C>T (p.Thr987Ile) c.2942C>T (p.Thr981Ile) | dbSNP gnomAD v4 |
22 | g.50720798del | CA2657583410 | SHANK3 | c.2566del (p.His856ThrfsTer?) n.3150del c.1618del (p.His540ThrfsTer?) c.1108del (p.His370ThrfsTer?) c.*1564del (n.*1564del) c.2962del (p.His988ThrfsTer?) c.2944del (p.His982ThrfsTer?) | gnomAD v4 |
22 | g.50720797_50720810del | CA2740092005 | SHANK3 | c.2565_2578del (p.His856ProfsTer?) n.3149_3162del c.1617_1630del (p.His540ProfsTer?) c.1107_1120del (p.His370ProfsTer?) c.*1563_*1576del (n.*1563_*1576del) c.2961_2974del (p.His988ProfsTer?) c.2943_2956del (p.His982ProfsTer?) | ClinVar |
22 | g.50720797C>A | CA515260318 | SHANK3 | c.2565C>A (p.Thr855=) n.3149C>A c.1617C>A (p.Thr539=) c.1107C>A (p.Thr369=) c.*1563C>A (n.*1563C>A) c.2961C>A (p.Thr987=) c.2943C>A (p.Thr981=) | gnomAD v4 |
22 | g.50720797C= | CA2411007832 | SHANK3 | c.2565C= (p.Thr855=) n.3149C= c.1617C= (p.Thr539=) c.1107C= (p.Thr369=) c.*1563C= (n.*1563C=) c.2961C= (p.Thr987=) c.2943C= (p.Thr981=) | |
22 | g.50720797C>G | CA515260320 | SHANK3 | c.2565C>G (p.Thr855=) n.3149C>G c.1617C>G (p.Thr539=) c.1107C>G (p.Thr369=) c.*1563C>G (n.*1563C>G) c.2961C>G (p.Thr987=) c.2943C>G (p.Thr981=) | gnomAD v4 |
22 | g.50720797C>T | CA515260319 | SHANK3 | c.2565C>T (p.Thr855=) n.3149C>T c.1617C>T (p.Thr539=) c.1107C>T (p.Thr369=) c.*1563C>T (n.*1563C>T) c.2961C>T (p.Thr987=) c.2943C>T (p.Thr981=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720798C>A | CA515260321 | SHANK3 | c.2566C>A (p.His856Asn) n.3150C>A c.1618C>A (p.His540Asn) c.1108C>A (p.His370Asn) c.*1564C>A (n.*1564C>A) c.2962C>A (p.His988Asn) c.2944C>A (p.His982Asn) | gnomAD v4 |
22 | g.50720798C>G | CA515260322 | SHANK3 | c.2566C>G (p.His856Asp) n.3150C>G c.1618C>G (p.His540Asp) c.1108C>G (p.His370Asp) c.*1564C>G (n.*1564C>G) c.2962C>G (p.His988Asp) c.2944C>G (p.His982Asp) | gnomAD v4 |
22 | g.50720798C>T | CA515260323 | SHANK3 | c.2566C>T (p.His856Tyr) n.3150C>T c.1618C>T (p.His540Tyr) c.1108C>T (p.His370Tyr) c.*1564C>T (n.*1564C>T) c.2962C>T (p.His988Tyr) c.2944C>T (p.His982Tyr) | gnomAD v4 |
22 | g.50720799A>C | CA515260324 | SHANK3 | c.2567A>C (p.His856Pro) n.3151A>C c.1619A>C (p.His540Pro) c.1109A>C (p.His370Pro) c.*1565A>C (n.*1565A>C) c.2963A>C (p.His988Pro) c.2945A>C (p.His982Pro) | ClinVar gnomAD v3 gnomAD v4 |
22 | g.50720799A>G | CA515260325 | SHANK3 | c.2567A>G (p.His856Arg) n.3151A>G c.1619A>G (p.His540Arg) c.1109A>G (p.His370Arg) c.*1565A>G (n.*1565A>G) c.2963A>G (p.His988Arg) c.2945A>G (p.His982Arg) | gnomAD v4 |
22 | g.50720799A>T | CA515260326 | SHANK3 | c.2567A>T (p.His856Leu) n.3151A>T c.1619A>T (p.His540Leu) c.1109A>T (p.His370Leu) c.*1565A>T (n.*1565A>T) c.2963A>T (p.His988Leu) c.2945A>T (p.His982Leu) | |
22 | g.50720800C>A | CA515260329 | SHANK3 | c.2568C>A (p.His856Gln) n.3152C>A c.1620C>A (p.His540Gln) c.1110C>A (p.His370Gln) c.*1566C>A (n.*1566C>A) c.2964C>A (p.His988Gln) c.2946C>A (p.His982Gln) | gnomAD v4 |
22 | g.50720800C>G | CA515260328 | SHANK3 | c.2568C>G (p.His856Gln) n.3152C>G c.1620C>G (p.His540Gln) c.1110C>G (p.His370Gln) c.*1566C>G (n.*1566C>G) c.2964C>G (p.His988Gln) c.2946C>G (p.His982Gln) | gnomAD v4 |
22 | g.50720800C>T | CA515260327 | SHANK3 | c.2568C>T (p.His856=) n.3152C>T c.1620C>T (p.His540=) c.1110C>T (p.His370=) c.*1566C>T (n.*1566C>T) c.2964C>T (p.His988=) c.2946C>T (p.His982=) | gnomAD v4 |
22 | g.50720801C>A | CA515260330 | SHANK3 | c.2569C>A (p.Arg857Ser) n.3153C>A c.1621C>A (p.Arg541Ser) c.1111C>A (p.Arg371Ser) c.*1567C>A (n.*1567C>A) c.2965C>A (p.Arg989Ser) c.2947C>A (p.Arg983Ser) | gnomAD v4 |
22 | g.50720801C>G | CA515260331 | SHANK3 | c.2569C>G (p.Arg857Gly) n.3153C>G c.1621C>G (p.Arg541Gly) c.1111C>G (p.Arg371Gly) c.*1567C>G (n.*1567C>G) c.2965C>G (p.Arg989Gly) c.2947C>G (p.Arg983Gly) | |
22 | g.50720801C>T | CA515260332 | SHANK3 | c.2569C>T (p.Arg857Cys) n.3153C>T c.1621C>T (p.Arg541Cys) c.1111C>T (p.Arg371Cys) c.*1567C>T (n.*1567C>T) c.2965C>T (p.Arg989Cys) c.2947C>T (p.Arg983Cys) | gnomAD v4 |
22 | g.50720802del | CA2819316059 | SHANK3 | c.2570del (p.Arg857ProfsTer?) n.3154del c.1622del (p.Arg541ProfsTer?) c.1112del (p.Arg371ProfsTer?) c.*1568del (n.*1568del) c.2966del (p.Arg989ProfsTer?) c.2948del (p.Arg983ProfsTer?) | |
22 | g.50720802G>A | CA515260333 | SHANK3 | c.2570G>A (p.Arg857His) n.3154G>A c.1622G>A (p.Arg541His) c.1112G>A (p.Arg371His) c.*1568G>A (n.*1568G>A) c.2966G>A (p.Arg989His) c.2948G>A (p.Arg983His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720802G>C | CA515260334 | SHANK3 | c.2570G>C (p.Arg857Pro) n.3154G>C c.1622G>C (p.Arg541Pro) c.1112G>C (p.Arg371Pro) c.*1568G>C (n.*1568G>C) c.2966G>C (p.Arg989Pro) c.2948G>C (p.Arg983Pro) | |
22 | g.50720802G= | CA2411007833 | SHANK3 | c.2570G= (p.Arg857=) n.3154G= c.1622G= (p.Arg541=) c.1112G= (p.Arg371=) c.*1568G= (n.*1568G=) c.2966G= (p.Arg989=) c.2948G= (p.Arg983=) | |
22 | g.50720802G>T | CA515260335 | SHANK3 | c.2570G>T (p.Arg857Leu) n.3154G>T c.1622G>T (p.Arg541Leu) c.1112G>T (p.Arg371Leu) c.*1568G>T (n.*1568G>T) c.2966G>T (p.Arg989Leu) c.2948G>T (p.Arg983Leu) | gnomAD v4 |
22 | g.50720803del | CA2657583411 | SHANK3 | c.2571del (p.Gly858ValfsTer?) n.3155del c.1623del (p.Gly542ValfsTer?) c.1113del (p.Gly372ValfsTer?) c.*1569del (n.*1569del) c.2967del (p.Gly990ValfsTer?) c.2949del (p.Gly984ValfsTer?) | gnomAD v4 |
22 | g.50720803C>A | CA515260336 | SHANK3 | c.2571C>A (p.Arg857=) n.3155C>A c.1623C>A (p.Arg541=) c.1113C>A (p.Arg371=) c.*1569C>A (n.*1569C>A) c.2967C>A (p.Arg989=) c.2949C>A (p.Arg983=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720803C= | CA2411007834 | SHANK3 | c.2571C= (p.Arg857=) n.3155C= c.1623C= (p.Arg541=) c.1113C= (p.Arg371=) c.*1569C= (n.*1569C=) c.2967C= (p.Arg989=) c.2949C= (p.Arg983=) | |
22 | g.50720803C>G | CA515260338 | SHANK3 | c.2571C>G (p.Arg857=) n.3155C>G c.1623C>G (p.Arg541=) c.1113C>G (p.Arg371=) c.*1569C>G (n.*1569C>G) c.2967C>G (p.Arg989=) c.2949C>G (p.Arg983=) | gnomAD v4 |
22 | g.50720803C>T | CA515260337 | SHANK3 | c.2571C>T (p.Arg857=) n.3155C>T c.1623C>T (p.Arg541=) c.1113C>T (p.Arg371=) c.*1569C>T (n.*1569C>T) c.2967C>T (p.Arg989=) c.2949C>T (p.Arg983=) | gnomAD v4 |
22 | g.50720804G>A | CA325578304 | SHANK3 | c.2572G>A (p.Gly858Ser) n.3156G>A c.1624G>A (p.Gly542Ser) c.1114G>A (p.Gly372Ser) c.*1570G>A (n.*1570G>A) c.2968G>A (p.Gly990Ser) c.2950G>A (p.Gly984Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720804G>C | CA515260339 | SHANK3 | c.2572G>C (p.Gly858Arg) n.3156G>C c.1624G>C (p.Gly542Arg) c.1114G>C (p.Gly372Arg) c.*1570G>C (n.*1570G>C) c.2968G>C (p.Gly990Arg) c.2950G>C (p.Gly984Arg) | gnomAD v4 |
22 | g.50720804G= | CA2411007835 | SHANK3 | c.2572G= (p.Gly858=) n.3156G= c.1624G= (p.Gly542=) c.1114G= (p.Gly372=) c.*1570G= (n.*1570G=) c.2968G= (p.Gly990=) c.2950G= (p.Gly984=) | |
22 | g.50720804G>T | CA515260340 | SHANK3 | c.2572G>T (p.Gly858Cys) n.3156G>T c.1624G>T (p.Gly542Cys) c.1114G>T (p.Gly372Cys) c.*1570G>T (n.*1570G>T) c.2968G>T (p.Gly990Cys) c.2950G>T (p.Gly984Cys) | gnomAD v4 |
22 | g.50720805del | CA2657583412 | SHANK3 | c.2573del (p.Gly858ValfsTer?) n.3157del c.1625del (p.Gly542ValfsTer?) c.1115del (p.Gly372ValfsTer?) c.*1571del (n.*1571del) c.2969del (p.Gly990ValfsTer?) c.2951del (p.Gly984ValfsTer?) | gnomAD v4 |
22 | g.50720805G>A | CA515260341 | SHANK3 | c.2573G>A (p.Gly858Asp) n.3157G>A c.1625G>A (p.Gly542Asp) c.1115G>A (p.Gly372Asp) c.*1571G>A (n.*1571G>A) c.2969G>A (p.Gly990Asp) c.2951G>A (p.Gly984Asp) | gnomAD v4 |
22 | g.50720805G>C | CA515260342 | SHANK3 | c.2573G>C (p.Gly858Ala) n.3157G>C c.1625G>C (p.Gly542Ala) c.1115G>C (p.Gly372Ala) c.*1571G>C (n.*1571G>C) c.2969G>C (p.Gly990Ala) c.2951G>C (p.Gly984Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720805G= | CA2411007836 | SHANK3 | c.2573G= (p.Gly858=) n.3157G= c.1625G= (p.Gly542=) c.1115G= (p.Gly372=) c.*1571G= (n.*1571G=) c.2969G= (p.Gly990=) c.2951G= (p.Gly984=) | |
22 | g.50720805G>T | CA515260343 | SHANK3 | c.2573G>T (p.Gly858Val) n.3157G>T c.1625G>T (p.Gly542Val) c.1115G>T (p.Gly372Val) c.*1571G>T (n.*1571G>T) c.2969G>T (p.Gly990Val) c.2951G>T (p.Gly984Val) | gnomAD v4 |
22 | g.50720805_50720808delinsGTCC | CA2411007837 | SHANK3 | c.2573_2576delinsGTCC (p.Gly858=) n.3157_3160delinsGTCC c.1625_1628delinsGTCC (p.Gly542=) c.1115_1118delinsGTCC (p.Gly372=) c.*1571_*1574delinsGTCC (n.*1571_*1574delinsGTCC) c.2969_2972delinsGTCC (p.Gly990=) c.2951_2954delinsGTCC (p.Gly984=) | |
22 | g.50720806T>A | CA515260344 | SHANK3 | c.2574T>A (p.Gly858=) n.3158T>A c.1626T>A (p.Gly542=) c.1116T>A (p.Gly372=) c.*1572T>A (n.*1572T>A) c.2970T>A (p.Gly990=) c.2952T>A (p.Gly984=) | gnomAD v4 |
22 | g.50720806T>C | CA515260345 | SHANK3 | c.2574T>C (p.Gly858=) n.3158T>C c.1626T>C (p.Gly542=) c.1116T>C (p.Gly372=) c.*1572T>C (n.*1572T>C) c.2970T>C (p.Gly990=) c.2952T>C (p.Gly984=) | gnomAD v4 |
22 | g.50720806T>G | CA515260346 | SHANK3 | c.2574T>G (p.Gly858=) n.3158T>G c.1626T>G (p.Gly542=) c.1116T>G (p.Gly372=) c.*1572T>G (n.*1572T>G) c.2970T>G (p.Gly990=) c.2952T>G (p.Gly984=) | |
22 | g.50720806_50720808del | CA640358970 | SHANK3 | c.2574_2576del (p.Pro859del) n.3158_3160del c.1626_1628del (p.Pro543del) c.1116_1118del (p.Pro373del) c.*1572_*1574del (n.*1572_*1574del) c.2970_2972del (p.Pro991del) c.2952_2954del (p.Pro985del) | dbSNP gnomAD v2 |
22 | g.50720807C>A | CA515260347 | SHANK3 | c.2575C>A (p.Pro859Thr) n.3159C>A c.1627C>A (p.Pro543Thr) c.1117C>A (p.Pro373Thr) c.*1573C>A (n.*1573C>A) c.2971C>A (p.Pro991Thr) c.2953C>A (p.Pro985Thr) | gnomAD v4 |
22 | g.50720807C= | CA2411007838 | SHANK3 | c.2575C= (p.Pro859=) n.3159C= c.1627C= (p.Pro543=) c.1117C= (p.Pro373=) c.*1573C= (n.*1573C=) c.2971C= (p.Pro991=) c.2953C= (p.Pro985=) | |
22 | g.50720807C>G | CA515260348 | SHANK3 | c.2575C>G (p.Pro859Ala) n.3159C>G c.1627C>G (p.Pro543Ala) c.1117C>G (p.Pro373Ala) c.*1573C>G (n.*1573C>G) c.2971C>G (p.Pro991Ala) c.2953C>G (p.Pro985Ala) | gnomAD v4 |
22 | g.50720807C>T | CA515260349 | SHANK3 | c.2575C>T (p.Pro859Ser) n.3159C>T c.1627C>T (p.Pro543Ser) c.1117C>T (p.Pro373Ser) c.*1573C>T (n.*1573C>T) c.2971C>T (p.Pro991Ser) c.2953C>T (p.Pro985Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720808C>A | CA515260350 | SHANK3 | c.2576C>A (p.Pro859Gln) n.3160C>A c.1628C>A (p.Pro543Gln) c.1118C>A (p.Pro373Gln) c.*1574C>A (n.*1574C>A) c.2972C>A (p.Pro991Gln) c.2954C>A (p.Pro985Gln) | gnomAD v4 |
22 | g.50720808C= | CA2411007839 | SHANK3 | c.2576C= (p.Pro859=) n.3160C= c.1628C= (p.Pro543=) c.1118C= (p.Pro373=) c.*1574C= (n.*1574C=) c.2972C= (p.Pro991=) c.2954C= (p.Pro985=) | |
22 | g.50720808C>G | CA515260352 | SHANK3 | c.2576C>G (p.Pro859Arg) n.3160C>G c.1628C>G (p.Pro543Arg) c.1118C>G (p.Pro373Arg) c.*1574C>G (n.*1574C>G) c.2972C>G (p.Pro991Arg) c.2954C>G (p.Pro985Arg) | gnomAD v4 |
22 | g.50720808C>T | CA515260351 | SHANK3 | c.2576C>T (p.Pro859Leu) n.3160C>T c.1628C>T (p.Pro543Leu) c.1118C>T (p.Pro373Leu) c.*1574C>T (n.*1574C>T) c.2972C>T (p.Pro991Leu) c.2954C>T (p.Pro985Leu) | dbSNP gnomAD v4 |
22 | g.50720809G>A | CA515260353 | SHANK3 | c.2577G>A (p.Pro859=) n.3161G>A c.1629G>A (p.Pro543=) c.1119G>A (p.Pro373=) c.*1575G>A (n.*1575G>A) c.2973G>A (p.Pro991=) c.2955G>A (p.Pro985=) | dbSNP gnomAD v4 |
22 | g.50720809G>C | CA515260354 | SHANK3 | c.2577G>C (p.Pro859=) n.3161G>C c.1629G>C (p.Pro543=) c.1119G>C (p.Pro373=) c.*1575G>C (n.*1575G>C) c.2973G>C (p.Pro991=) c.2955G>C (p.Pro985=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720809G= | CA2411007840 | SHANK3 | c.2577G= (p.Pro859=) n.3161G= c.1629G= (p.Pro543=) c.1119G= (p.Pro373=) c.*1575G= (n.*1575G=) c.2973G= (p.Pro991=) c.2955G= (p.Pro985=) | |
22 | g.50720809G>T | CA515260355 | SHANK3 | c.2577G>T (p.Pro859=) n.3161G>T c.1629G>T (p.Pro543=) c.1119G>T (p.Pro373=) c.*1575G>T (n.*1575G>T) c.2973G>T (p.Pro991=) c.2955G>T (p.Pro985=) | gnomAD v4 |
22 | g.50720810C>A | CA515260356 | SHANK3 | c.2578C>A (p.Arg860Ser) n.3162C>A c.1630C>A (p.Arg544Ser) c.1120C>A (p.Arg374Ser) c.*1576C>A (n.*1576C>A) c.2974C>A (p.Arg992Ser) c.2956C>A (p.Arg986Ser) | ClinVar dbSNP gnomAD v4 |
22 | g.50720810C= | CA2411007841 | SHANK3 | c.2578C= (p.Arg860=) n.3162C= c.1630C= (p.Arg544=) c.1120C= (p.Arg374=) c.*1576C= (n.*1576C=) c.2974C= (p.Arg992=) c.2956C= (p.Arg986=) | |
22 | g.50720810C>G | CA515260357 | SHANK3 | c.2578C>G (p.Arg860Gly) n.3162C>G c.1630C>G (p.Arg544Gly) c.1120C>G (p.Arg374Gly) c.*1576C>G (n.*1576C>G) c.2974C>G (p.Arg992Gly) c.2956C>G (p.Arg986Gly) | |
22 | g.50720810C>T | CA515260358 | SHANK3 | c.2578C>T (p.Arg860Cys) n.3162C>T c.1630C>T (p.Arg544Cys) c.1120C>T (p.Arg374Cys) c.*1576C>T (n.*1576C>T) c.2974C>T (p.Arg992Cys) c.2956C>T (p.Arg986Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720811G>A | CA515260359 | SHANK3 | c.2579G>A (p.Arg860His) n.3163G>A c.1631G>A (p.Arg544His) c.1121G>A (p.Arg374His) c.*1577G>A (n.*1577G>A) c.2975G>A (p.Arg992His) c.2957G>A (p.Arg986His) | gnomAD v4 |
22 | g.50720811G>C | CA515260360 | SHANK3 | c.2579G>C (p.Arg860Pro) n.3163G>C c.1631G>C (p.Arg544Pro) c.1121G>C (p.Arg374Pro) c.*1577G>C (n.*1577G>C) c.2975G>C (p.Arg992Pro) c.2957G>C (p.Arg986Pro) | |
22 | g.50720811G>T | CA515260361 | SHANK3 | c.2579G>T (p.Arg860Leu) n.3163G>T c.1631G>T (p.Arg544Leu) c.1121G>T (p.Arg374Leu) c.*1577G>T (n.*1577G>T) c.2975G>T (p.Arg992Leu) c.2957G>T (p.Arg986Leu) | gnomAD v4 |
22 | g.50720812C>A | CA515260362 | SHANK3 | c.2580C>A (p.Arg860=) n.3164C>A c.1632C>A (p.Arg544=) c.1122C>A (p.Arg374=) c.*1578C>A (n.*1578C>A) c.2976C>A (p.Arg992=) c.2958C>A (p.Arg986=) | gnomAD v4 |
22 | g.50720812C>G | CA515260363 | SHANK3 | c.2580C>G (p.Arg860=) n.3164C>G c.1632C>G (p.Arg544=) c.1122C>G (p.Arg374=) c.*1578C>G (n.*1578C>G) c.2976C>G (p.Arg992=) c.2958C>G (p.Arg986=) | |
22 | g.50720812C>T | CA515260364 | SHANK3 | c.2580C>T (p.Arg860=) n.3164C>T c.1632C>T (p.Arg544=) c.1122C>T (p.Arg374=) c.*1578C>T (n.*1578C>T) c.2976C>T (p.Arg992=) c.2958C>T (p.Arg986=) | gnomAD v4 |
22 | g.50720814del | CA2819316074 | SHANK3 | c.2582del (p.Pro861ArgfsTer?) n.3166del c.1634del (p.Pro545ArgfsTer?) c.1124del (p.Pro375ArgfsTer?) c.*1580del (n.*1580del) c.2978del (p.Pro993ArgfsTer?) c.2960del (p.Pro987ArgfsTer?) | |
22 | g.50720813C>A | CA515260367 | SHANK3 | c.2581C>A (p.Pro861Thr) n.3165C>A c.1633C>A (p.Pro545Thr) c.1123C>A (p.Pro375Thr) c.*1579C>A (n.*1579C>A) c.2977C>A (p.Pro993Thr) c.2959C>A (p.Pro987Thr) | gnomAD v4 |
22 | g.50720813C= | CA2411007842 | SHANK3 | c.2581C= (p.Pro861=) n.3165C= c.1633C= (p.Pro545=) c.1123C= (p.Pro375=) c.*1579C= (n.*1579C=) c.2977C= (p.Pro993=) c.2959C= (p.Pro987=) | |
22 | g.50720813C>G | CA515260366 | SHANK3 | c.2581C>G (p.Pro861Ala) n.3165C>G c.1633C>G (p.Pro545Ala) c.1123C>G (p.Pro375Ala) c.*1579C>G (n.*1579C>G) c.2977C>G (p.Pro993Ala) c.2959C>G (p.Pro987Ala) | |
22 | g.50720813C>T | CA515260365 | SHANK3 | c.2581C>T (p.Pro861Ser) n.3165C>T c.1633C>T (p.Pro545Ser) c.1123C>T (p.Pro375Ser) c.*1579C>T (n.*1579C>T) c.2977C>T (p.Pro993Ser) c.2959C>T (p.Pro987Ser) | dbSNP gnomAD v4 |
22 | g.50720814C>A | CA515260368 | SHANK3 | c.2582C>A (p.Pro861Gln) n.3166C>A c.1634C>A (p.Pro545Gln) c.1124C>A (p.Pro375Gln) c.*1580C>A (n.*1580C>A) c.2978C>A (p.Pro993Gln) c.2960C>A (p.Pro987Gln) | gnomAD v4 |
22 | g.50720814C= | CA2411007843 | SHANK3 | c.2582C= (p.Pro861=) n.3166C= c.1634C= (p.Pro545=) c.1124C= (p.Pro375=) c.*1580C= (n.*1580C=) c.2978C= (p.Pro993=) c.2960C= (p.Pro987=) | |
22 | g.50720814C>G | CA515260369 | SHANK3 | c.2582C>G (p.Pro861Arg) n.3166C>G c.1634C>G (p.Pro545Arg) c.1124C>G (p.Pro375Arg) c.*1580C>G (n.*1580C>G) c.2978C>G (p.Pro993Arg) c.2960C>G (p.Pro987Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720814C>T | CA325578308 | SHANK3 | c.2582C>T (p.Pro861Leu) n.3166C>T c.1634C>T (p.Pro545Leu) c.1124C>T (p.Pro375Leu) c.*1580C>T (n.*1580C>T) c.2978C>T (p.Pro993Leu) c.2960C>T (p.Pro987Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.50720814_50720815delinsCG | CA2411007844 | SHANK3 | c.2582_2583delinsCG (p.Pro861=) n.3166_3167delinsCG c.1634_1635delinsCG (p.Pro545=) c.1124_1125delinsCG (p.Pro375=) c.*1580_*1581delinsCG (n.*1580_*1581delinsCG) c.2978_2979delinsCG (p.Pro993=) c.2960_2961delinsCG (p.Pro987=) | |
22 | g.50720815G>A | CA515260370 | SHANK3 | c.2583G>A (p.Pro861=) n.3167G>A c.1635G>A (p.Pro545=) c.1125G>A (p.Pro375=) c.*1581G>A (n.*1581G>A) c.2979G>A (p.Pro993=) c.2961G>A (p.Pro987=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720815G>C | CA515260371 | SHANK3 | c.2583G>C (p.Pro861=) n.3167G>C c.1635G>C (p.Pro545=) c.1125G>C (p.Pro375=) c.*1581G>C (n.*1581G>C) c.2979G>C (p.Pro993=) c.2961G>C (p.Pro987=) | dbSNP |
22 | g.50720815G= | CA2411007845 | SHANK3 | c.2583G= (p.Pro861=) n.3167G= c.1635G= (p.Pro545=) c.1125G= (p.Pro375=) c.*1581G= (n.*1581G=) c.2979G= (p.Pro993=) c.2961G= (p.Pro987=) | |
22 | g.50720815G>T | CA515260372 | SHANK3 | c.2583G>T (p.Pro861=) n.3167G>T c.1635G>T (p.Pro545=) c.1125G>T (p.Pro375=) c.*1581G>T (n.*1581G>T) c.2979G>T (p.Pro993=) c.2961G>T (p.Pro987=) | gnomAD v4 |
22 | g.50720817del | CA1139667201 | SHANK3 | c.2585del (p.Gly862ValfsTer?) n.3169del c.1637del (p.Gly546ValfsTer?) c.1127del (p.Gly376ValfsTer?) c.*1583del (n.*1583del) c.2981del (p.Gly994ValfsTer?) c.2963del (p.Gly988ValfsTer?) | ClinVar dbSNP gnomAD v4 |
22 | g.50720816G>A | CA515260373 | SHANK3 | c.2584G>A (p.Gly862Ser) n.3168G>A c.1636G>A (p.Gly546Ser) c.1126G>A (p.Gly376Ser) c.*1582G>A (n.*1582G>A) c.2980G>A (p.Gly994Ser) c.2962G>A (p.Gly988Ser) | gnomAD v4 |
22 | g.50720816G>C | CA515260374 | SHANK3 | c.2584G>C (p.Gly862Arg) n.3168G>C c.1636G>C (p.Gly546Arg) c.1126G>C (p.Gly376Arg) c.*1582G>C (n.*1582G>C) c.2980G>C (p.Gly994Arg) c.2962G>C (p.Gly988Arg) | gnomAD v4 |
22 | g.50720816G>T | CA515260375 | SHANK3 | c.2584G>T (p.Gly862Cys) n.3168G>T c.1636G>T (p.Gly546Cys) c.1126G>T (p.Gly376Cys) c.*1582G>T (n.*1582G>T) c.2980G>T (p.Gly994Cys) c.2962G>T (p.Gly988Cys) | gnomAD v4 |
22 | g.50720817G>A | CA515260376 | SHANK3 | c.2585G>A (p.Gly862Asp) n.3169G>A c.1637G>A (p.Gly546Asp) c.1127G>A (p.Gly376Asp) c.*1583G>A (n.*1583G>A) c.2981G>A (p.Gly994Asp) c.2963G>A (p.Gly988Asp) | gnomAD v4 |
22 | g.50720817G>C | CA515260377 | SHANK3 | c.2585G>C (p.Gly862Ala) n.3169G>C c.1637G>C (p.Gly546Ala) c.1127G>C (p.Gly376Ala) c.*1583G>C (n.*1583G>C) c.2981G>C (p.Gly994Ala) c.2963G>C (p.Gly988Ala) | gnomAD v4 |
22 | g.50720817G>T | CA515260378 | SHANK3 | c.2585G>T (p.Gly862Val) n.3169G>T c.1637G>T (p.Gly546Val) c.1127G>T (p.Gly376Val) c.*1583G>T (n.*1583G>T) c.2981G>T (p.Gly994Val) c.2963G>T (p.Gly988Val) | gnomAD v4 |
22 | g.50720818T>A | CA515260379 | SHANK3 | c.2586T>A (p.Gly862=) n.3170T>A c.1638T>A (p.Gly546=) c.1128T>A (p.Gly376=) c.*1584T>A (n.*1584T>A) c.2982T>A (p.Gly994=) c.2964T>A (p.Gly988=) | |
22 | g.50720818T>C | CA515260381 | SHANK3 | c.2586T>C (p.Gly862=) n.3170T>C c.1638T>C (p.Gly546=) c.1128T>C (p.Gly376=) c.*1584T>C (n.*1584T>C) c.2982T>C (p.Gly994=) c.2964T>C (p.Gly988=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720818T>G | CA515260380 | SHANK3 | c.2586T>G (p.Gly862=) n.3170T>G c.1638T>G (p.Gly546=) c.1128T>G (p.Gly376=) c.*1584T>G (n.*1584T>G) c.2982T>G (p.Gly994=) c.2964T>G (p.Gly988=) | dbSNP |
22 | g.50720818T= | CA2411007846 | SHANK3 | c.2586T= (p.Gly862=) n.3170T= c.1638T= (p.Gly546=) c.1128T= (p.Gly376=) c.*1584T= (n.*1584T=) c.2982T= (p.Gly994=) c.2964T= (p.Gly988=) | |
22 | g.50720819G>A | CA515260382 | SHANK3 | c.2587G>A (p.Gly863Ser) n.3171G>A c.1639G>A (p.Gly547Ser) c.1129G>A (p.Gly377Ser) c.*1585G>A (n.*1585G>A) c.2983G>A (p.Gly995Ser) c.2965G>A (p.Gly989Ser) | gnomAD v4 |
22 | g.50720819G>C | CA515260384 | SHANK3 | c.2587G>C (p.Gly863Arg) n.3171G>C c.1639G>C (p.Gly547Arg) c.1129G>C (p.Gly377Arg) c.*1585G>C (n.*1585G>C) c.2983G>C (p.Gly995Arg) c.2965G>C (p.Gly989Arg) | gnomAD v4 |
22 | g.50720819G>T | CA515260383 | SHANK3 | c.2587G>T (p.Gly863Cys) n.3171G>T c.1639G>T (p.Gly547Cys) c.1129G>T (p.Gly377Cys) c.*1585G>T (n.*1585G>T) c.2983G>T (p.Gly995Cys) c.2965G>T (p.Gly989Cys) | gnomAD v4 |
22 | g.50720820del | CA2657583413 | SHANK3 | c.2588del (p.Gly863AlafsTer?) n.3172del c.1640del (p.Gly547AlafsTer?) c.1130del (p.Gly377AlafsTer?) c.*1586del (n.*1586del) c.2984del (p.Gly995AlafsTer?) c.2966del (p.Gly989AlafsTer?) | gnomAD v4 |
22 | g.50720820G>A | CA515260385 | SHANK3 | c.2588G>A (p.Gly863Asp) n.3172G>A c.1640G>A (p.Gly547Asp) c.1130G>A (p.Gly377Asp) c.*1586G>A (n.*1586G>A) c.2984G>A (p.Gly995Asp) c.2966G>A (p.Gly989Asp) | gnomAD v4 |
22 | g.50720820G>C | CA515260386 | SHANK3 | c.2588G>C (p.Gly863Ala) n.3172G>C c.1640G>C (p.Gly547Ala) c.1130G>C (p.Gly377Ala) c.*1586G>C (n.*1586G>C) c.2984G>C (p.Gly995Ala) c.2966G>C (p.Gly989Ala) | |
22 | g.50720820G= | CA2411007847 | SHANK3 | c.2588G= (p.Gly863=) n.3172G= c.1640G= (p.Gly547=) c.1130G= (p.Gly377=) c.*1586G= (n.*1586G=) c.2984G= (p.Gly995=) c.2966G= (p.Gly989=) | |
22 | g.50720820G>T | CA325578326 | SHANK3 | c.2588G>T (p.Gly863Val) n.3172G>T c.1640G>T (p.Gly547Val) c.1130G>T (p.Gly377Val) c.*1586G>T (n.*1586G>T) c.2984G>T (p.Gly995Val) c.2966G>T (p.Gly989Val) | dbSNP gnomAD v4 |
22 | g.50720821C>A | CA515260387 | SHANK3 | c.2589C>A (p.Gly863=) n.3173C>A c.1641C>A (p.Gly547=) c.1131C>A (p.Gly377=) c.*1587C>A (n.*1587C>A) c.2985C>A (p.Gly995=) c.2967C>A (p.Gly989=) | gnomAD v4 |
22 | g.50720821C= | CA2411007848 | SHANK3 | c.2589C= (p.Gly863=) n.3173C= c.1641C= (p.Gly547=) c.1131C= (p.Gly377=) c.*1587C= (n.*1587C=) c.2985C= (p.Gly995=) c.2967C= (p.Gly989=) | |
22 | g.50720821C>G | CA515260388 | SHANK3 | c.2589C>G (p.Gly863=) n.3173C>G c.1641C>G (p.Gly547=) c.1131C>G (p.Gly377=) c.*1587C>G (n.*1587C>G) c.2985C>G (p.Gly995=) c.2967C>G (p.Gly989=) | gnomAD v4 |
22 | g.50720821C>T | CA515260389 | SHANK3 | c.2589C>T (p.Gly863=) n.3173C>T c.1641C>T (p.Gly547=) c.1131C>T (p.Gly377=) c.*1587C>T (n.*1587C>T) c.2985C>T (p.Gly995=) c.2967C>T (p.Gly989=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720822C>A | CA515260390 | SHANK3 | c.2590C>A (p.Leu864Ile) n.3174C>A c.1642C>A (p.Leu548Ile) c.1132C>A (p.Leu378Ile) c.*1588C>A (n.*1588C>A) c.2986C>A (p.Leu996Ile) c.2968C>A (p.Leu990Ile) | gnomAD v4 |
22 | g.50720822C= | CA2411007849 | SHANK3 | c.2590C= (p.Leu864=) n.3174C= c.1642C= (p.Leu548=) c.1132C= (p.Leu378=) c.*1588C= (n.*1588C=) c.2986C= (p.Leu996=) c.2968C= (p.Leu990=) | |
22 | g.50720822C>G | CA515260391 | SHANK3 | c.2590C>G (p.Leu864Val) n.3174C>G c.1642C>G (p.Leu548Val) c.1132C>G (p.Leu378Val) c.*1588C>G (n.*1588C>G) c.2986C>G (p.Leu996Val) c.2968C>G (p.Leu990Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720822C>T | CA515260392 | SHANK3 | c.2590C>T (p.Leu864Phe) n.3174C>T c.1642C>T (p.Leu548Phe) c.1132C>T (p.Leu378Phe) c.*1588C>T (n.*1588C>T) c.2986C>T (p.Leu996Phe) c.2968C>T (p.Leu990Phe) | dbSNP gnomAD v4 |
22 | g.50720823T>A | CA515260393 | SHANK3 | c.2591T>A (p.Leu864His) n.3175T>A c.1643T>A (p.Leu548His) c.1133T>A (p.Leu378His) c.*1589T>A (n.*1589T>A) c.2987T>A (p.Leu996His) c.2969T>A (p.Leu990His) | |
22 | g.50720823T>C | CA515260394 | SHANK3 | c.2591T>C (p.Leu864Pro) n.3175T>C c.1643T>C (p.Leu548Pro) c.1133T>C (p.Leu378Pro) c.*1589T>C (n.*1589T>C) c.2987T>C (p.Leu996Pro) c.2969T>C (p.Leu990Pro) | dbSNP gnomAD v4 |
22 | g.50720823T>G | CA515260395 | SHANK3 | c.2591T>G (p.Leu864Arg) n.3175T>G c.1643T>G (p.Leu548Arg) c.1133T>G (p.Leu378Arg) c.*1589T>G (n.*1589T>G) c.2987T>G (p.Leu996Arg) c.2969T>G (p.Leu990Arg) | |
22 | g.50720823T= | CA2411007850 | SHANK3 | c.2591T= (p.Leu864=) n.3175T= c.1643T= (p.Leu548=) c.1133T= (p.Leu378=) c.*1589T= (n.*1589T=) c.2987T= (p.Leu996=) c.2969T= (p.Leu990=) | |
22 | g.50720824C>A | CA515260396 | SHANK3 | c.2592C>A (p.Leu864=) n.3176C>A c.1644C>A (p.Leu548=) c.1134C>A (p.Leu378=) c.*1590C>A (n.*1590C>A) c.2988C>A (p.Leu996=) c.2970C>A (p.Leu990=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720824C= | CA2411007851 | SHANK3 | c.2592C= (p.Leu864=) n.3176C= c.1644C= (p.Leu548=) c.1134C= (p.Leu378=) c.*1590C= (n.*1590C=) c.2988C= (p.Leu996=) c.2970C= (p.Leu990=) | |
22 | g.50720824C>G | CA515260398 | SHANK3 | c.2592C>G (p.Leu864=) n.3176C>G c.1644C>G (p.Leu548=) c.1134C>G (p.Leu378=) c.*1590C>G (n.*1590C>G) c.2988C>G (p.Leu996=) c.2970C>G (p.Leu990=) | dbSNP gnomAD v4 |
22 | g.50720824C>T | CA515260397 | SHANK3 | c.2592C>T (p.Leu864=) n.3176C>T c.1644C>T (p.Leu548=) c.1134C>T (p.Leu378=) c.*1590C>T (n.*1590C>T) c.2988C>T (p.Leu996=) c.2970C>T (p.Leu990=) | dbSNP gnomAD v4 |
22 | g.50720825G>A | CA515260399 | SHANK3 | c.2593G>A (p.Asp865Asn) n.3177G>A c.1645G>A (p.Asp549Asn) c.1135G>A (p.Asp379Asn) c.*1591G>A (n.*1591G>A) c.2989G>A (p.Asp997Asn) c.2971G>A (p.Asp991Asn) | gnomAD v4 |
22 | g.50720825G>C | CA515260400 | SHANK3 | c.2593G>C (p.Asp865His) n.3177G>C c.1645G>C (p.Asp549His) c.1135G>C (p.Asp379His) c.*1591G>C (n.*1591G>C) c.2989G>C (p.Asp997His) c.2971G>C (p.Asp991His) | gnomAD v4 |
22 | g.50720825G>T | CA515260401 | SHANK3 | c.2593G>T (p.Asp865Tyr) n.3177G>T c.1645G>T (p.Asp549Tyr) c.1135G>T (p.Asp379Tyr) c.*1591G>T (n.*1591G>T) c.2989G>T (p.Asp997Tyr) c.2971G>T (p.Asp991Tyr) | gnomAD v4 |
22 | g.50720826A>C | CA515260402 | SHANK3 | c.2594A>C (p.Asp865Ala) n.3178A>C c.1646A>C (p.Asp549Ala) c.1136A>C (p.Asp379Ala) c.*1592A>C (n.*1592A>C) c.2990A>C (p.Asp997Ala) c.2972A>C (p.Asp991Ala) | |
22 | g.50720826A>G | CA515260403 | SHANK3 | c.2594A>G (p.Asp865Gly) n.3178A>G c.1646A>G (p.Asp549Gly) c.1136A>G (p.Asp379Gly) c.*1592A>G (n.*1592A>G) c.2990A>G (p.Asp997Gly) c.2972A>G (p.Asp991Gly) | |
22 | g.50720826A>T | CA515260404 | SHANK3 | c.2594A>T (p.Asp865Val) n.3178A>T c.1646A>T (p.Asp549Val) c.1136A>T (p.Asp379Val) c.*1592A>T (n.*1592A>T) c.2990A>T (p.Asp997Val) c.2972A>T (p.Asp991Val) | |
22 | g.50720827C>A | CA515260405 | SHANK3 | c.2595C>A (p.Asp865Glu) n.3179C>A c.1647C>A (p.Asp549Glu) c.1137C>A (p.Asp379Glu) c.*1593C>A (n.*1593C>A) c.2991C>A (p.Asp997Glu) c.2973C>A (p.Asp991Glu) | gnomAD v4 |
22 | g.50720827C= | CA2411007852 | SHANK3 | c.2595C= (p.Asp865=) n.3179C= c.1647C= (p.Asp549=) c.1137C= (p.Asp379=) c.*1593C= (n.*1593C=) c.2991C= (p.Asp997=) c.2973C= (p.Asp991=) | |
22 | g.50720827C>G | CA515260406 | SHANK3 | c.2595C>G (p.Asp865Glu) n.3179C>G c.1647C>G (p.Asp549Glu) c.1137C>G (p.Asp379Glu) c.*1593C>G (n.*1593C>G) c.2991C>G (p.Asp997Glu) c.2973C>G (p.Asp991Glu) | dbSNP gnomAD v4 |
22 | g.50720827C>T | CA515260407 | SHANK3 | c.2595C>T (p.Asp865=) n.3179C>T c.1647C>T (p.Asp549=) c.1137C>T (p.Asp379=) c.*1593C>T (n.*1593C>T) c.2991C>T (p.Asp997=) c.2973C>T (p.Asp991=) | gnomAD v4 |
22 | g.50720828T>A | CA515260409 | SHANK3 | c.2596T>A (p.Tyr866Asn) n.3180T>A c.1648T>A (p.Tyr550Asn) c.1138T>A (p.Tyr380Asn) c.*1594T>A (n.*1594T>A) c.2992T>A (p.Tyr998Asn) c.2974T>A (p.Tyr992Asn) | |
22 | g.50720828T>C | CA515260410 | SHANK3 | c.2596T>C (p.Tyr866His) n.3180T>C c.1648T>C (p.Tyr550His) c.1138T>C (p.Tyr380His) c.*1594T>C (n.*1594T>C) c.2992T>C (p.Tyr998His) c.2974T>C (p.Tyr992His) | gnomAD v4 |
22 | g.50720828T>G | CA515260408 | SHANK3 | c.2596T>G (p.Tyr866Asp) n.3180T>G c.1648T>G (p.Tyr550Asp) c.1138T>G (p.Tyr380Asp) c.*1594T>G (n.*1594T>G) c.2992T>G (p.Tyr998Asp) c.2974T>G (p.Tyr992Asp) | |
22 | g.50720829A= | CA2411007853 | SHANK3 | c.2597A= (p.Tyr866=) n.3181A= c.1649A= (p.Tyr550=) c.1139A= (p.Tyr380=) c.*1595A= (n.*1595A=) c.2993A= (p.Tyr998=) c.2975A= (p.Tyr992=) | |
22 | g.50720829A>C | CA515260411 | SHANK3 | c.2597A>C (p.Tyr866Ser) n.3181A>C c.1649A>C (p.Tyr550Ser) c.1139A>C (p.Tyr380Ser) c.*1595A>C (n.*1595A>C) c.2993A>C (p.Tyr998Ser) c.2975A>C (p.Tyr992Ser) | gnomAD v3 gnomAD v4 |
22 | g.50720829A>G | CA515260412 | SHANK3 | c.2597A>G (p.Tyr866Cys) n.3181A>G c.1649A>G (p.Tyr550Cys) c.1139A>G (p.Tyr380Cys) c.*1595A>G (n.*1595A>G) c.2993A>G (p.Tyr998Cys) c.2975A>G (p.Tyr992Cys) | gnomAD v4 |
22 | g.50720829A>T | CA515260413 | SHANK3 | c.2597A>T (p.Tyr866Phe) n.3181A>T c.1649A>T (p.Tyr550Phe) c.1139A>T (p.Tyr380Phe) c.*1595A>T (n.*1595A>T) c.2993A>T (p.Tyr998Phe) c.2975A>T (p.Tyr992Phe) | |
22 | g.50720830del | CA2657583414 | SHANK3 | c.2598del (p.Tyr866Ter) n.3182del c.1650del (p.Tyr550Ter) c.1140del (p.Tyr380Ter) c.*1596del (n.*1596del) c.2994del (p.Tyr998Ter) c.2976del (p.Tyr992Ter) | gnomAD v4 |
22 | g.50720830C>A | CA515260414 | SHANK3 | c.2598C>A (p.Tyr866Ter) n.3182C>A c.1650C>A (p.Tyr550Ter) c.1140C>A (p.Tyr380Ter) c.*1596C>A (n.*1596C>A) c.2994C>A (p.Tyr998Ter) c.2976C>A (p.Tyr992Ter) | gnomAD v4 |
22 | g.50720830C= | CA2411007854 | SHANK3 | c.2598C= (p.Tyr866=) n.3182C= c.1650C= (p.Tyr550=) c.1140C= (p.Tyr380=) c.*1596C= (n.*1596C=) c.2994C= (p.Tyr998=) c.2976C= (p.Tyr992=) | |
22 | g.50720830C>G | CA515260415 | SHANK3 | c.2598C>G (p.Tyr866Ter) n.3182C>G c.1650C>G (p.Tyr550Ter) c.1140C>G (p.Tyr380Ter) c.*1596C>G (n.*1596C>G) c.2994C>G (p.Tyr998Ter) c.2976C>G (p.Tyr992Ter) | |
22 | g.50720830C>T | CA10325943 | SHANK3 | c.2598C>T (p.Tyr866=) n.3182C>T c.1650C>T (p.Tyr550=) c.1140C>T (p.Tyr380=) c.*1596C>T (n.*1596C>T) c.2994C>T (p.Tyr998=) c.2976C>T (p.Tyr992=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.50720834_50720866dup | CA1026672084 | SHANK3 | c.2602_2634dup (p.Gly878_Pro879insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) n.3186_3218dup c.1654_1686dup (p.Gly562_Pro563insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) c.1144_1176dup (p.Gly392_Pro393insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) c.*1600_*1632dup (n.*1600_*1632dup) c.2998_3030dup (p.Gly1010_Pro1011insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) c.2980_3012dup (p.Gly1004_Pro1005insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720831G>A | CA515260416 | SHANK3 | c.2599G>A (p.Gly867Ser) n.3183G>A c.1651G>A (p.Gly551Ser) c.1141G>A (p.Gly381Ser) c.*1597G>A (n.*1597G>A) c.2995G>A (p.Gly999Ser) c.2977G>A (p.Gly993Ser) | gnomAD v4 COSMIC COSMIC |
22 | g.50720831G>C | CA515260417 | SHANK3 | c.2599G>C (p.Gly867Arg) n.3183G>C c.1651G>C (p.Gly551Arg) c.1141G>C (p.Gly381Arg) c.*1597G>C (n.*1597G>C) c.2995G>C (p.Gly999Arg) c.2977G>C (p.Gly993Arg) | |
22 | g.50720831G>T | CA515260418 | SHANK3 | c.2599G>T (p.Gly867Cys) n.3183G>T c.1651G>T (p.Gly551Cys) c.1141G>T (p.Gly381Cys) c.*1597G>T (n.*1597G>T) c.2995G>T (p.Gly999Cys) c.2977G>T (p.Gly993Cys) | gnomAD v4 |
22 | g.50720834_50720845dup | CA2411007855 | SHANK3 | c.2602_2613dup (p.Gly871_Pro872insAlaGlyAspGly) n.3186_3197dup c.1654_1665dup (p.Gly555_Pro556insAlaGlyAspGly) c.1144_1155dup (p.Gly385_Pro386insAlaGlyAspGly) c.*1600_*1611dup (n.*1600_*1611dup) c.2998_3009dup (p.Gly1003_Pro1004insAlaGlyAspGly) c.2980_2991dup (p.Gly997_Pro998insAlaGlyAspGly) | dbSNP gnomAD v4 |
22 | g.50720832G>A | CA515260419 | SHANK3 | c.2600G>A (p.Gly867Asp) n.3184G>A c.1652G>A (p.Gly551Asp) c.1142G>A (p.Gly381Asp) c.*1598G>A (n.*1598G>A) c.2996G>A (p.Gly999Asp) c.2978G>A (p.Gly993Asp) | dbSNP gnomAD v4 |
22 | g.50720832G>C | CA515260420 | SHANK3 | c.2600G>C (p.Gly867Ala) n.3184G>C c.1652G>C (p.Gly551Ala) c.1142G>C (p.Gly381Ala) c.*1598G>C (n.*1598G>C) c.2996G>C (p.Gly999Ala) c.2978G>C (p.Gly993Ala) | |
22 | g.50720832G= | CA2411007856 | SHANK3 | c.2600G= (p.Gly867=) n.3184G= c.1652G= (p.Gly551=) c.1142G= (p.Gly381=) c.*1598G= (n.*1598G=) c.2996G= (p.Gly999=) c.2978G= (p.Gly993=) | |
22 | g.50720832G>T | CA515260421 | SHANK3 | c.2600G>T (p.Gly867Val) n.3184G>T c.1652G>T (p.Gly551Val) c.1142G>T (p.Gly381Val) c.*1598G>T (n.*1598G>T) c.2996G>T (p.Gly999Val) c.2978G>T (p.Gly993Val) | gnomAD v4 |
22 | g.50720833C>A | CA515260424 | SHANK3 | c.2601C>A (p.Gly867=) n.3185C>A c.1653C>A (p.Gly551=) c.1143C>A (p.Gly381=) c.*1599C>A (n.*1599C>A) c.2997C>A (p.Gly999=) c.2979C>A (p.Gly993=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720833C= | CA2411007857 | SHANK3 | c.2601C= (p.Gly867=) n.3185C= c.1653C= (p.Gly551=) c.1143C= (p.Gly381=) c.*1599C= (n.*1599C=) c.2997C= (p.Gly999=) c.2979C= (p.Gly993=) | |
22 | g.50720833C>G | CA515260422 | SHANK3 | c.2601C>G (p.Gly867=) n.3185C>G c.1653C>G (p.Gly551=) c.1143C>G (p.Gly381=) c.*1599C>G (n.*1599C>G) c.2997C>G (p.Gly999=) c.2979C>G (p.Gly993=) | gnomAD v4 |
22 | g.50720833C>T | CA515260423 | SHANK3 | c.2601C>T (p.Gly867=) n.3185C>T c.1653C>T (p.Gly551=) c.1143C>T (p.Gly381=) c.*1599C>T (n.*1599C>T) c.2997C>T (p.Gly999=) c.2979C>T (p.Gly993=) | gnomAD v4 |
22 | g.50720834G>A | CA515260425 | SHANK3 | c.2602G>A (p.Ala868Thr) n.3186G>A c.1654G>A (p.Ala552Thr) c.1144G>A (p.Ala382Thr) c.*1600G>A (n.*1600G>A) c.2998G>A (p.Ala1000Thr) c.2980G>A (p.Ala994Thr) | ClinVar dbSNP gnomAD v4 |
22 | g.50720834G>C | CA515260426 | SHANK3 | c.2602G>C (p.Ala868Pro) n.3186G>C c.1654G>C (p.Ala552Pro) c.1144G>C (p.Ala382Pro) c.*1600G>C (n.*1600G>C) c.2998G>C (p.Ala1000Pro) c.2980G>C (p.Ala994Pro) | gnomAD v4 |
22 | g.50720834G= | CA2411007858 | SHANK3 | c.2602G= (p.Ala868=) n.3186G= c.1654G= (p.Ala552=) c.1144G= (p.Ala382=) c.*1600G= (n.*1600G=) c.2998G= (p.Ala1000=) c.2980G= (p.Ala994=) | |
22 | g.50720834G>T | CA515260427 | SHANK3 | c.2602G>T (p.Ala868Ser) n.3186G>T c.1654G>T (p.Ala552Ser) c.1144G>T (p.Ala382Ser) c.*1600G>T (n.*1600G>T) c.2998G>T (p.Ala1000Ser) c.2980G>T (p.Ala994Ser) | gnomAD v4 |
22 | g.50720835C>A | CA515260428 | SHANK3 | c.2603C>A (p.Ala868Glu) n.3187C>A c.1655C>A (p.Ala552Glu) c.1145C>A (p.Ala382Glu) c.*1601C>A (n.*1601C>A) c.2999C>A (p.Ala1000Glu) c.2981C>A (p.Ala994Glu) | gnomAD v4 |
22 | g.50720835C= | CA2411007859 | SHANK3 | c.2603C= (p.Ala868=) n.3187C= c.1655C= (p.Ala552=) c.1145C= (p.Ala382=) c.*1601C= (n.*1601C=) c.2999C= (p.Ala1000=) c.2981C= (p.Ala994=) | |
22 | g.50720835C>G | CA515260429 | SHANK3 | c.2603C>G (p.Ala868Gly) n.3187C>G c.1655C>G (p.Ala552Gly) c.1145C>G (p.Ala382Gly) c.*1601C>G (n.*1601C>G) c.2999C>G (p.Ala1000Gly) c.2981C>G (p.Ala994Gly) | gnomAD v4 |
22 | g.50720835C>T | CA325578365 | SHANK3 | c.2603C>T (p.Ala868Val) n.3187C>T c.1655C>T (p.Ala552Val) c.1145C>T (p.Ala382Val) c.*1601C>T (n.*1601C>T) c.2999C>T (p.Ala1000Val) c.2981C>T (p.Ala994Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720839_50720850del | CA2657583415 | SHANK3 | c.2607_2618del (p.Asp870_Gly873del) n.3191_3202del c.1659_1670del (p.Asp554_Gly557del) c.1149_1160del (p.Asp384_Gly387del) c.*1605_*1616del (n.*1605_*1616del) c.3003_3014del (p.Asp1002_Gly1005del) c.2985_2996del (p.Asp996_Gly999del) | gnomAD v4 |
22 | g.50720836G>A | CA515260430 | SHANK3 | c.2604G>A (p.Ala868=) n.3188G>A c.1656G>A (p.Ala552=) c.1146G>A (p.Ala382=) c.*1602G>A (n.*1602G>A) c.3000G>A (p.Ala1000=) c.2982G>A (p.Ala994=) | dbSNP gnomAD v4 |
22 | g.50720836G>C | CA515260431 | SHANK3 | c.2604G>C (p.Ala868=) n.3188G>C c.1656G>C (p.Ala552=) c.1146G>C (p.Ala382=) c.*1602G>C (n.*1602G>C) c.3000G>C (p.Ala1000=) c.2982G>C (p.Ala994=) | |
22 | g.50720836G= | CA2411007860 | SHANK3 | c.2604G= (p.Ala868=) n.3188G= c.1656G= (p.Ala552=) c.1146G= (p.Ala382=) c.*1602G= (n.*1602G=) c.3000G= (p.Ala1000=) c.2982G= (p.Ala994=) | |
22 | g.50720836G>T | CA515260432 | SHANK3 | c.2604G>T (p.Ala868=) n.3188G>T c.1656G>T (p.Ala552=) c.1146G>T (p.Ala382=) c.*1602G>T (n.*1602G>T) c.3000G>T (p.Ala1000=) c.2982G>T (p.Ala994=) | gnomAD v4 |
22 | g.50720837G>A | CA515260433 | SHANK3 | c.2605G>A (p.Gly869Ser) n.3189G>A c.1657G>A (p.Gly553Ser) c.1147G>A (p.Gly383Ser) c.*1603G>A (n.*1603G>A) c.3001G>A (p.Gly1001Ser) c.2983G>A (p.Gly995Ser) | gnomAD v4 |
22 | g.50720837G>C | CA515260434 | SHANK3 | c.2605G>C (p.Gly869Arg) n.3189G>C c.1657G>C (p.Gly553Arg) c.1147G>C (p.Gly383Arg) c.*1603G>C (n.*1603G>C) c.3001G>C (p.Gly1001Arg) c.2983G>C (p.Gly995Arg) | gnomAD v4 |
22 | g.50720837G>T | CA515260435 | SHANK3 | c.2605G>T (p.Gly869Cys) n.3189G>T c.1657G>T (p.Gly553Cys) c.1147G>T (p.Gly383Cys) c.*1603G>T (n.*1603G>T) c.3001G>T (p.Gly1001Cys) c.2983G>T (p.Gly995Cys) | gnomAD v4 |
22 | g.50720838G>A | CA515260438 | SHANK3 | c.2606G>A (p.Gly869Asp) n.3190G>A c.1658G>A (p.Gly553Asp) c.1148G>A (p.Gly383Asp) c.*1604G>A (n.*1604G>A) c.3002G>A (p.Gly1001Asp) c.2984G>A (p.Gly995Asp) | gnomAD v4 |
22 | g.50720838G>C | CA515260437 | SHANK3 | c.2606G>C (p.Gly869Ala) n.3190G>C c.1658G>C (p.Gly553Ala) c.1148G>C (p.Gly383Ala) c.*1604G>C (n.*1604G>C) c.3002G>C (p.Gly1001Ala) c.2984G>C (p.Gly995Ala) | |
22 | g.50720838G>T | CA515260436 | SHANK3 | c.2606G>T (p.Gly869Val) n.3190G>T c.1658G>T (p.Gly553Val) c.1148G>T (p.Gly383Val) c.*1604G>T (n.*1604G>T) c.3002G>T (p.Gly1001Val) c.2984G>T (p.Gly995Val) | |
22 | g.50720839C>A | CA515260439 | SHANK3 | c.2607C>A (p.Gly869=) n.3191C>A c.1659C>A (p.Gly553=) c.1149C>A (p.Gly383=) c.*1605C>A (n.*1605C>A) c.3003C>A (p.Gly1001=) c.2985C>A (p.Gly995=) | gnomAD v4 |
22 | g.50720839C= | CA2411007861 | SHANK3 | c.2607C= (p.Gly869=) n.3191C= c.1659C= (p.Gly553=) c.1149C= (p.Gly383=) c.*1605C= (n.*1605C=) c.3003C= (p.Gly1001=) c.2985C= (p.Gly995=) | |
22 | g.50720839C>G | CA515260441 | SHANK3 | c.2607C>G (p.Gly869=) n.3191C>G c.1659C>G (p.Gly553=) c.1149C>G (p.Gly383=) c.*1605C>G (n.*1605C>G) c.3003C>G (p.Gly1001=) c.2985C>G (p.Gly995=) | gnomAD v4 |
22 | g.50720839C>T | CA515260440 | SHANK3 | c.2607C>T (p.Gly869=) n.3191C>T c.1659C>T (p.Gly553=) c.1149C>T (p.Gly383=) c.*1605C>T (n.*1605C>T) c.3003C>T (p.Gly1001=) c.2985C>T (p.Gly995=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720840G>A | CA515260442 | SHANK3 | c.2608G>A (p.Asp870Asn) n.3192G>A c.1660G>A (p.Asp554Asn) c.1150G>A (p.Asp384Asn) c.*1606G>A (n.*1606G>A) c.3004G>A (p.Asp1002Asn) c.2986G>A (p.Asp996Asn) | dbSNP gnomAD v4 |
22 | g.50720840G>C | CA515260444 | SHANK3 | c.2608G>C (p.Asp870His) n.3192G>C c.1660G>C (p.Asp554His) c.1150G>C (p.Asp384His) c.*1606G>C (n.*1606G>C) c.3004G>C (p.Asp1002His) c.2986G>C (p.Asp996His) | |
22 | g.50720840G= | CA2411007862 | SHANK3 | c.2608G= (p.Asp870=) n.3192G= c.1660G= (p.Asp554=) c.1150G= (p.Asp384=) c.*1606G= (n.*1606G=) c.3004G= (p.Asp1002=) c.2986G= (p.Asp996=) | |
22 | g.50720840G>T | CA515260443 | SHANK3 | c.2608G>T (p.Asp870Tyr) n.3192G>T c.1660G>T (p.Asp554Tyr) c.1150G>T (p.Asp384Tyr) c.*1606G>T (n.*1606G>T) c.3004G>T (p.Asp1002Tyr) c.2986G>T (p.Asp996Tyr) | gnomAD v4 |
22 | g.50720841A>C | CA515260445 | SHANK3 | c.2609A>C (p.Asp870Ala) n.3193A>C c.1661A>C (p.Asp554Ala) c.1151A>C (p.Asp384Ala) c.*1607A>C (n.*1607A>C) c.3005A>C (p.Asp1002Ala) c.2987A>C (p.Asp996Ala) | ClinVar dbSNP |
22 | g.50720841A>G | CA515260446 | SHANK3 | c.2609A>G (p.Asp870Gly) n.3193A>G c.1661A>G (p.Asp554Gly) c.1151A>G (p.Asp384Gly) c.*1607A>G (n.*1607A>G) c.3005A>G (p.Asp1002Gly) c.2987A>G (p.Asp996Gly) | gnomAD v4 |
22 | g.50720841A>T | CA515260447 | SHANK3 | c.2609A>T (p.Asp870Val) n.3193A>T c.1661A>T (p.Asp554Val) c.1151A>T (p.Asp384Val) c.*1607A>T (n.*1607A>T) c.3005A>T (p.Asp1002Val) c.2987A>T (p.Asp996Val) | |
22 | g.50720842T>A | CA515260448 | SHANK3 | c.2610T>A (p.Asp870Glu) n.3194T>A c.1662T>A (p.Asp554Glu) c.1152T>A (p.Asp384Glu) c.*1608T>A (n.*1608T>A) c.3006T>A (p.Asp1002Glu) c.2988T>A (p.Asp996Glu) | dbSNP |
22 | g.50720842T>C | CA515260449 | SHANK3 | c.2610T>C (p.Asp870=) n.3194T>C c.1662T>C (p.Asp554=) c.1152T>C (p.Asp384=) c.*1608T>C (n.*1608T>C) c.3006T>C (p.Asp1002=) c.2988T>C (p.Asp996=) | gnomAD v4 |
22 | g.50720842T>G | CA515260450 | SHANK3 | c.2610T>G (p.Asp870Glu) n.3194T>G c.1662T>G (p.Asp554Glu) c.1152T>G (p.Asp384Glu) c.*1608T>G (n.*1608T>G) c.3006T>G (p.Asp1002Glu) c.2988T>G (p.Asp996Glu) | dbSNP |
22 | g.50720843G>A | CA515260451 | SHANK3 | c.2611G>A (p.Gly871Ser) n.3195G>A c.1663G>A (p.Gly555Ser) c.1153G>A (p.Gly385Ser) c.*1609G>A (n.*1609G>A) c.3007G>A (p.Gly1003Ser) c.2989G>A (p.Gly997Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720843G>C | CA515260452 | SHANK3 | c.2611G>C (p.Gly871Arg) n.3195G>C c.1663G>C (p.Gly555Arg) c.1153G>C (p.Gly385Arg) c.*1609G>C (n.*1609G>C) c.3007G>C (p.Gly1003Arg) c.2989G>C (p.Gly997Arg) | |
22 | g.50720843G= | CA2411007863 | SHANK3 | c.2611G= (p.Gly871=) n.3195G= c.1663G= (p.Gly555=) c.1153G= (p.Gly385=) c.*1609G= (n.*1609G=) c.3007G= (p.Gly1003=) c.2989G= (p.Gly997=) | |
22 | g.50720843G>T | CA515260453 | SHANK3 | c.2611G>T (p.Gly871Cys) n.3195G>T c.1663G>T (p.Gly555Cys) c.1153G>T (p.Gly385Cys) c.*1609G>T (n.*1609G>T) c.3007G>T (p.Gly1003Cys) c.2989G>T (p.Gly997Cys) | gnomAD v4 |
22 | g.50720851_50720871dup | CA2546940682 | SHANK3 | c.2619_2639dup (p.Gly880_Pro881insLeuAlaPheGlyGlyProGly) n.3203_3223dup c.1671_1691dup (p.Gly564_Pro565insLeuAlaPheGlyGlyProGly) c.1161_1181dup (p.Gly394_Pro395insLeuAlaPheGlyGlyProGly) c.*1617_*1637dup (n.*1617_*1637dup) c.3015_3035dup (p.Gly1012_Pro1013insLeuAlaPheGlyGlyProGly) c.2997_3017dup (p.Gly1006_Pro1007insLeuAlaPheGlyGlyProGly) | gnomAD v4 |
22 | g.50720844G>A | CA515260454 | SHANK3 | c.2612G>A (p.Gly871Asp) n.3196G>A c.1664G>A (p.Gly555Asp) c.1154G>A (p.Gly385Asp) c.*1610G>A (n.*1610G>A) c.3008G>A (p.Gly1003Asp) c.2990G>A (p.Gly997Asp) | gnomAD v4 |
22 | g.50720844G>C | CA515260455 | SHANK3 | c.2612G>C (p.Gly871Ala) n.3196G>C c.1664G>C (p.Gly555Ala) c.1154G>C (p.Gly385Ala) c.*1610G>C (n.*1610G>C) c.3008G>C (p.Gly1003Ala) c.2990G>C (p.Gly997Ala) | |
22 | g.50720844G>T | CA515260456 | SHANK3 | c.2612G>T (p.Gly871Val) n.3196G>T c.1664G>T (p.Gly555Val) c.1154G>T (p.Gly385Val) c.*1610G>T (n.*1610G>T) c.3008G>T (p.Gly1003Val) c.2990G>T (p.Gly997Val) | gnomAD v4 |
22 | g.50720845C>A | CA515260457 | SHANK3 | c.2613C>A (p.Gly871=) n.3197C>A c.1665C>A (p.Gly555=) c.1155C>A (p.Gly385=) c.*1611C>A (n.*1611C>A) c.3009C>A (p.Gly1003=) c.2991C>A (p.Gly997=) | gnomAD v4 |
22 | g.50720845C>G | CA515260459 | SHANK3 | c.2613C>G (p.Gly871=) n.3197C>G c.1665C>G (p.Gly555=) c.1155C>G (p.Gly385=) c.*1611C>G (n.*1611C>G) c.3009C>G (p.Gly1003=) c.2991C>G (p.Gly997=) | dbSNP |
22 | g.50720845C>T | CA515260458 | SHANK3 | c.2613C>T (p.Gly871=) n.3197C>T c.1665C>T (p.Gly555=) c.1155C>T (p.Gly385=) c.*1611C>T (n.*1611C>T) c.3009C>T (p.Gly1003=) c.2991C>T (p.Gly997=) | gnomAD v4 |
22 | g.50720847del | CA891842414 | SHANK3 | c.2615del (p.Pro872ArgfsTer?) n.3199del c.1667del (p.Pro556ArgfsTer?) c.1157del (p.Pro386ArgfsTer?) c.*1613del (n.*1613del) c.3011del (p.Pro1004ArgfsTer?) c.2993del (p.Pro998ArgfsTer?) | gnomAD v4 |
22 | g.50720846C>A | CA515260460 | SHANK3 | c.2614C>A (p.Pro872Thr) n.3198C>A c.1666C>A (p.Pro556Thr) c.1156C>A (p.Pro386Thr) c.*1612C>A (n.*1612C>A) c.3010C>A (p.Pro1004Thr) c.2992C>A (p.Pro998Thr) | gnomAD v4 |
22 | g.50720846C= | CA2411007864 | SHANK3 | c.2614C= (p.Pro872=) n.3198C= c.1666C= (p.Pro556=) c.1156C= (p.Pro386=) c.*1612C= (n.*1612C=) c.3010C= (p.Pro1004=) c.2992C= (p.Pro998=) | |
22 | g.50720846C>G | CA10325944 | SHANK3 | c.2614C>G (p.Pro872Ala) n.3198C>G c.1666C>G (p.Pro556Ala) c.1156C>G (p.Pro386Ala) c.*1612C>G (n.*1612C>G) c.3010C>G (p.Pro1004Ala) c.2992C>G (p.Pro998Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720846C>T | CA515260461 | SHANK3 | c.2614C>T (p.Pro872Ser) n.3198C>T c.1666C>T (p.Pro556Ser) c.1156C>T (p.Pro386Ser) c.*1612C>T (n.*1612C>T) c.3010C>T (p.Pro1004Ser) c.2992C>T (p.Pro998Ser) | gnomAD v4 |
22 | g.50720847C>A | CA515260462 | SHANK3 | c.2615C>A (p.Pro872Gln) n.3199C>A c.1667C>A (p.Pro556Gln) c.1157C>A (p.Pro386Gln) c.*1613C>A (n.*1613C>A) c.3011C>A (p.Pro1004Gln) c.2993C>A (p.Pro998Gln) | gnomAD v4 |
22 | g.50720847C= | CA2411007865 | SHANK3 | c.2615C= (p.Pro872=) n.3199C= c.1667C= (p.Pro556=) c.1157C= (p.Pro386=) c.*1613C= (n.*1613C=) c.3011C= (p.Pro1004=) c.2993C= (p.Pro998=) | |
22 | g.50720847C>G | CA515260463 | SHANK3 | c.2615C>G (p.Pro872Arg) n.3199C>G c.1667C>G (p.Pro556Arg) c.1157C>G (p.Pro386Arg) c.*1613C>G (n.*1613C>G) c.3011C>G (p.Pro1004Arg) c.2993C>G (p.Pro998Arg) | dbSNP |
22 | g.50720847C>T | CA515260464 | SHANK3 | c.2615C>T (p.Pro872Leu) n.3199C>T c.1667C>T (p.Pro556Leu) c.1157C>T (p.Pro386Leu) c.*1613C>T (n.*1613C>T) c.3011C>T (p.Pro1004Leu) c.2993C>T (p.Pro998Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720847_50720848insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT | CA2819316110 | SHANK3 | c.2615_2616insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly873ArgfsTer?) n.3199_3200insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT c.1667_1668insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly557ArgfsTer?) c.1157_1158insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly387ArgfsTer?) c.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (n.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT) c.3011_3012insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly1005ArgfsTer?) c.2993_2994insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly999ArgfsTer?) | |
22 | g.50720848G>A | CA515260465 | SHANK3 | c.2616G>A (p.Pro872=) n.3200G>A c.1668G>A (p.Pro556=) c.1158G>A (p.Pro386=) c.*1614G>A (n.*1614G>A) c.3012G>A (p.Pro1004=) c.2994G>A (p.Pro998=) | dbSNP gnomAD v4 |
22 | g.50720848G>C | CA515260466 | SHANK3 | c.2616G>C (p.Pro872=) n.3200G>C c.1668G>C (p.Pro556=) c.1158G>C (p.Pro386=) c.*1614G>C (n.*1614G>C) c.3012G>C (p.Pro1004=) c.2994G>C (p.Pro998=) | gnomAD v4 |
22 | g.50720848G= | CA2411007866 | SHANK3 | c.2616G= (p.Pro872=) n.3200G= c.1668G= (p.Pro556=) c.1158G= (p.Pro386=) c.*1614G= (n.*1614G=) c.3012G= (p.Pro1004=) c.2994G= (p.Pro998=) | |
22 | g.50720848G>T | CA515260467 | SHANK3 | c.2616G>T (p.Pro872=) n.3200G>T c.1668G>T (p.Pro556=) c.1158G>T (p.Pro386=) c.*1614G>T (n.*1614G>T) c.3012G>T (p.Pro1004=) c.2994G>T (p.Pro998=) | gnomAD v4 |
22 | g.50720851del | CA2657583416 | SHANK3 | c.2619del (p.Leu874SerfsTer?) n.3203del c.1671del (p.Leu558SerfsTer?) c.1161del (p.Leu388SerfsTer?) c.*1617del (n.*1617del) c.3015del (p.Leu1006SerfsTer?) c.2997del (p.Leu1000SerfsTer?) | gnomAD v4 |
22 | g.50720849G>A | CA515260469 | SHANK3 | c.2617G>A (p.Gly873Arg) n.3201G>A c.1669G>A (p.Gly557Arg) c.1159G>A (p.Gly387Arg) c.*1615G>A (n.*1615G>A) c.3013G>A (p.Gly1005Arg) c.2995G>A (p.Gly999Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720849G>C | CA515260470 | SHANK3 | c.2617G>C (p.Gly873Arg) n.3201G>C c.1669G>C (p.Gly557Arg) c.1159G>C (p.Gly387Arg) c.*1615G>C (n.*1615G>C) c.3013G>C (p.Gly1005Arg) c.2995G>C (p.Gly999Arg) | |
22 | g.50720849G= | CA2411007867 | SHANK3 | c.2617G= (p.Gly873=) n.3201G= c.1669G= (p.Gly557=) c.1159G= (p.Gly387=) c.*1615G= (n.*1615G=) c.3013G= (p.Gly1005=) c.2995G= (p.Gly999=) | |
22 | g.50720849G>T | CA515260468 | SHANK3 | c.2617G>T (p.Gly873Trp) n.3201G>T c.1669G>T (p.Gly557Trp) c.1159G>T (p.Gly387Trp) c.*1615G>T (n.*1615G>T) c.3013G>T (p.Gly1005Trp) c.2995G>T (p.Gly999Trp) | gnomAD v4 |
22 | g.50720850G>A | CA515260471 | SHANK3 | c.2618G>A (p.Gly873Glu) n.3202G>A c.1670G>A (p.Gly557Glu) c.1160G>A (p.Gly387Glu) c.*1616G>A (n.*1616G>A) c.3014G>A (p.Gly1005Glu) c.2996G>A (p.Gly999Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720850G>C | CA515260472 | SHANK3 | c.2618G>C (p.Gly873Ala) n.3202G>C c.1670G>C (p.Gly557Ala) c.1160G>C (p.Gly387Ala) c.*1616G>C (n.*1616G>C) c.3014G>C (p.Gly1005Ala) c.2996G>C (p.Gly999Ala) | dbSNP |
22 | g.50720850G= | CA2411007868 | SHANK3 | c.2618G= (p.Gly873=) n.3202G= c.1670G= (p.Gly557=) c.1160G= (p.Gly387=) c.*1616G= (n.*1616G=) c.3014G= (p.Gly1005=) c.2996G= (p.Gly999=) | |
22 | g.50720850G>T | CA515260473 | SHANK3 | c.2618G>T (p.Gly873Val) n.3202G>T c.1670G>T (p.Gly557Val) c.1160G>T (p.Gly387Val) c.*1616G>T (n.*1616G>T) c.3014G>T (p.Gly1005Val) c.2996G>T (p.Gly999Val) |