Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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) | |
22 | g.50720851G>A | CA515260474 | SHANK3 | c.2619G>A (p.Gly873=) n.3203G>A c.1671G>A (p.Gly557=) c.1161G>A (p.Gly387=) c.*1617G>A (n.*1617G>A) c.3015G>A (p.Gly1005=) c.2997G>A (p.Gly999=) | gnomAD v4 |
22 | g.50720851G>C | CA515260475 | SHANK3 | c.2619G>C (p.Gly873=) n.3203G>C c.1671G>C (p.Gly557=) c.1161G>C (p.Gly387=) c.*1617G>C (n.*1617G>C) c.3015G>C (p.Gly1005=) c.2997G>C (p.Gly999=) | |
22 | g.50720851G>T | CA515260476 | SHANK3 | c.2619G>T (p.Gly873=) n.3203G>T c.1671G>T (p.Gly557=) c.1161G>T (p.Gly387=) c.*1617G>T (n.*1617G>T) c.3015G>T (p.Gly1005=) c.2997G>T (p.Gly999=) | |
22 | g.50720852C>A | CA515260477 | SHANK3 | c.2620C>A (p.Leu874Ile) n.3204C>A c.1672C>A (p.Leu558Ile) c.1162C>A (p.Leu388Ile) c.*1618C>A (n.*1618C>A) c.3016C>A (p.Leu1006Ile) c.2998C>A (p.Leu1000Ile) | gnomAD v4 |
22 | g.50720852C= | CA2411007869 | SHANK3 | c.2620C= (p.Leu874=) n.3204C= c.1672C= (p.Leu558=) c.1162C= (p.Leu388=) c.*1618C= (n.*1618C=) c.3016C= (p.Leu1006=) c.2998C= (p.Leu1000=) | |
22 | g.50720852C>G | CA515260478 | SHANK3 | c.2620C>G (p.Leu874Val) n.3204C>G c.1672C>G (p.Leu558Val) c.1162C>G (p.Leu388Val) c.*1618C>G (n.*1618C>G) c.3016C>G (p.Leu1006Val) c.2998C>G (p.Leu1000Val) | |
22 | g.50720852C>T | CA515260479 | SHANK3 | c.2620C>T (p.Leu874Phe) n.3204C>T c.1672C>T (p.Leu558Phe) c.1162C>T (p.Leu388Phe) c.*1618C>T (n.*1618C>T) c.3016C>T (p.Leu1006Phe) c.2998C>T (p.Leu1000Phe) | dbSNP gnomAD v4 |
22 | g.50720853T>A | CA515260480 | SHANK3 | c.2621T>A (p.Leu874His) n.3205T>A c.1673T>A (p.Leu558His) c.1163T>A (p.Leu388His) c.*1619T>A (n.*1619T>A) c.3017T>A (p.Leu1006His) c.2999T>A (p.Leu1000His) | |
22 | g.50720853T>C | CA515260481 | SHANK3 | c.2621T>C (p.Leu874Pro) n.3205T>C c.1673T>C (p.Leu558Pro) c.1163T>C (p.Leu388Pro) c.*1619T>C (n.*1619T>C) c.3017T>C (p.Leu1006Pro) c.2999T>C (p.Leu1000Pro) | dbSNP gnomAD v4 |
22 | g.50720853T>G | CA515260482 | SHANK3 | c.2621T>G (p.Leu874Arg) n.3205T>G c.1673T>G (p.Leu558Arg) c.1163T>G (p.Leu388Arg) c.*1619T>G (n.*1619T>G) c.3017T>G (p.Leu1006Arg) c.2999T>G (p.Leu1000Arg) | gnomAD v4 |
22 | g.50720854C>A | CA515260485 | SHANK3 | c.2622C>A (p.Leu874=) n.3206C>A c.1674C>A (p.Leu558=) c.1164C>A (p.Leu388=) c.*1620C>A (n.*1620C>A) c.3018C>A (p.Leu1006=) c.3000C>A (p.Leu1000=) | gnomAD v4 |
22 | g.50720854C>G | CA515260483 | SHANK3 | c.2622C>G (p.Leu874=) n.3206C>G c.1674C>G (p.Leu558=) c.1164C>G (p.Leu388=) c.*1620C>G (n.*1620C>G) c.3018C>G (p.Leu1006=) c.3000C>G (p.Leu1000=) | |
22 | g.50720854C>T | CA515260484 | SHANK3 | c.2622C>T (p.Leu874=) n.3206C>T c.1674C>T (p.Leu558=) c.1164C>T (p.Leu388=) c.*1620C>T (n.*1620C>T) c.3018C>T (p.Leu1006=) c.3000C>T (p.Leu1000=) | gnomAD v4 |
22 | g.50720855G>A | CA325578367 | SHANK3 | c.2623G>A (p.Ala875Thr) n.3207G>A c.1675G>A (p.Ala559Thr) c.1165G>A (p.Ala389Thr) c.*1621G>A (n.*1621G>A) c.3019G>A (p.Ala1007Thr) c.3001G>A (p.Ala1001Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720855G>C | CA515260486 | SHANK3 | c.2623G>C (p.Ala875Pro) n.3207G>C c.1675G>C (p.Ala559Pro) c.1165G>C (p.Ala389Pro) c.*1621G>C (n.*1621G>C) c.3019G>C (p.Ala1007Pro) c.3001G>C (p.Ala1001Pro) | gnomAD v4 |
22 | g.50720855G= | CA2411007870 | SHANK3 | c.2623G= (p.Ala875=) n.3207G= c.1675G= (p.Ala559=) c.1165G= (p.Ala389=) c.*1621G= (n.*1621G=) c.3019G= (p.Ala1007=) c.3001G= (p.Ala1001=) | |
22 | g.50720855G>T | CA515260487 | SHANK3 | c.2623G>T (p.Ala875Ser) n.3207G>T c.1675G>T (p.Ala559Ser) c.1165G>T (p.Ala389Ser) c.*1621G>T (n.*1621G>T) c.3019G>T (p.Ala1007Ser) c.3001G>T (p.Ala1001Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720856_50720894del | CA2819316113 | SHANK3 | c.2624_2662del (p.Ala875_Leu887del) n.3208_3246del c.1676_1714del (p.Ala559_Leu571del) c.1166_1204del (p.Ala389_Leu401del) c.*1622_*1660del (n.*1622_*1660del) c.3020_3058del (p.Ala1007_Leu1019del) c.3002_3040del (p.Ala1001_Leu1013del) | |
22 | g.50720856C>A | CA515260488 | SHANK3 | c.2624C>A (p.Ala875Glu) n.3208C>A c.1676C>A (p.Ala559Glu) c.1166C>A (p.Ala389Glu) c.*1622C>A (n.*1622C>A) c.3020C>A (p.Ala1007Glu) c.3002C>A (p.Ala1001Glu) | gnomAD v4 |
22 | g.50720856C>G | CA515260489 | SHANK3 | c.2624C>G (p.Ala875Gly) n.3208C>G c.1676C>G (p.Ala559Gly) c.1166C>G (p.Ala389Gly) c.*1622C>G (n.*1622C>G) c.3020C>G (p.Ala1007Gly) c.3002C>G (p.Ala1001Gly) | gnomAD v4 |
22 | g.50720856C>T | CA515260490 | SHANK3 | c.2624C>T (p.Ala875Val) n.3208C>T c.1676C>T (p.Ala559Val) c.1166C>T (p.Ala389Val) c.*1622C>T (n.*1622C>T) c.3020C>T (p.Ala1007Val) c.3002C>T (p.Ala1001Val) | gnomAD v4 |
22 | g.50720857G>A | CA515260491 | SHANK3 | c.2625G>A (p.Ala875=) n.3209G>A c.1677G>A (p.Ala559=) c.1167G>A (p.Ala389=) c.*1623G>A (n.*1623G>A) c.3021G>A (p.Ala1007=) c.3003G>A (p.Ala1001=) | gnomAD v4 |
22 | g.50720857G>C | CA515260492 | SHANK3 | c.2625G>C (p.Ala875=) n.3209G>C c.1677G>C (p.Ala559=) c.1167G>C (p.Ala389=) c.*1623G>C (n.*1623G>C) c.3021G>C (p.Ala1007=) c.3003G>C (p.Ala1001=) | dbSNP |
22 | g.50720857G= | CA2411007871 | SHANK3 | c.2625G= (p.Ala875=) n.3209G= c.1677G= (p.Ala559=) c.1167G= (p.Ala389=) c.*1623G= (n.*1623G=) c.3021G= (p.Ala1007=) c.3003G= (p.Ala1001=) | |
22 | g.50720857G>T | CA515260493 | SHANK3 | c.2625G>T (p.Ala875=) n.3209G>T c.1677G>T (p.Ala559=) c.1167G>T (p.Ala389=) c.*1623G>T (n.*1623G>T) c.3021G>T (p.Ala1007=) c.3003G>T (p.Ala1001=) | gnomAD v4 |
22 | g.50720858T>A | CA515260494 | SHANK3 | c.2626T>A (p.Phe876Ile) n.3210T>A c.1678T>A (p.Phe560Ile) c.1168T>A (p.Phe390Ile) c.*1624T>A (n.*1624T>A) c.3022T>A (p.Phe1008Ile) c.3004T>A (p.Phe1002Ile) | |
22 | g.50720858T>C | CA515260495 | SHANK3 | c.2626T>C (p.Phe876Leu) n.3210T>C c.1678T>C (p.Phe560Leu) c.1168T>C (p.Phe390Leu) c.*1624T>C (n.*1624T>C) c.3022T>C (p.Phe1008Leu) c.3004T>C (p.Phe1002Leu) | gnomAD v4 |
22 | g.50720858T>G | CA515260496 | SHANK3 | c.2626T>G (p.Phe876Val) n.3210T>G c.1678T>G (p.Phe560Val) c.1168T>G (p.Phe390Val) c.*1624T>G (n.*1624T>G) c.3022T>G (p.Phe1008Val) c.3004T>G (p.Phe1002Val) | ClinVar gnomAD v3 gnomAD v4 |
22 | g.50720859del | CA2580099968 | SHANK3 | c.2627del (p.Phe876SerfsTer?) n.3211del c.1679del (p.Phe560SerfsTer?) c.1169del (p.Phe390SerfsTer?) c.*1625del (n.*1625del) c.3023del (p.Phe1008SerfsTer?) c.3005del (p.Phe1002SerfsTer?) | ClinVar |
22 | g.50720859T>A | CA515260499 | SHANK3 | c.2627T>A (p.Phe876Tyr) n.3211T>A c.1679T>A (p.Phe560Tyr) c.1169T>A (p.Phe390Tyr) c.*1625T>A (n.*1625T>A) c.3023T>A (p.Phe1008Tyr) c.3005T>A (p.Phe1002Tyr) | |
22 | g.50720859T>C | CA515260498 | SHANK3 | c.2627T>C (p.Phe876Ser) n.3211T>C c.1679T>C (p.Phe560Ser) c.1169T>C (p.Phe390Ser) c.*1625T>C (n.*1625T>C) c.3023T>C (p.Phe1008Ser) c.3005T>C (p.Phe1002Ser) | dbSNP |
22 | g.50720859T>G | CA515260497 | SHANK3 | c.2627T>G (p.Phe876Cys) n.3211T>G c.1679T>G (p.Phe560Cys) c.1169T>G (p.Phe390Cys) c.*1625T>G (n.*1625T>G) c.3023T>G (p.Phe1008Cys) c.3005T>G (p.Phe1002Cys) | |
22 | g.50720860C>A | CA515260500 | SHANK3 | c.2628C>A (p.Phe876Leu) n.3212C>A c.1680C>A (p.Phe560Leu) c.1170C>A (p.Phe390Leu) c.*1626C>A (n.*1626C>A) c.3024C>A (p.Phe1008Leu) c.3006C>A (p.Phe1002Leu) | gnomAD v4 |
22 | g.50720860C= | CA2411007872 | SHANK3 | c.2628C= (p.Phe876=) n.3212C= c.1680C= (p.Phe560=) c.1170C= (p.Phe390=) c.*1626C= (n.*1626C=) c.3024C= (p.Phe1008=) c.3006C= (p.Phe1002=) | |
22 | g.50720860C>G | CA515260501 | SHANK3 | c.2628C>G (p.Phe876Leu) n.3212C>G c.1680C>G (p.Phe560Leu) c.1170C>G (p.Phe390Leu) c.*1626C>G (n.*1626C>G) c.3024C>G (p.Phe1008Leu) c.3006C>G (p.Phe1002Leu) | dbSNP gnomAD v4 |
22 | g.50720860C>T | CA515260502 | SHANK3 | c.2628C>T (p.Phe876=) n.3212C>T c.1680C>T (p.Phe560=) c.1170C>T (p.Phe390=) c.*1626C>T (n.*1626C>T) c.3024C>T (p.Phe1008=) c.3006C>T (p.Phe1002=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720861G>A | CA515260503 | SHANK3 | c.2629G>A (p.Gly877Ser) n.3213G>A c.1681G>A (p.Gly561Ser) c.1171G>A (p.Gly391Ser) c.*1627G>A (n.*1627G>A) c.3025G>A (p.Gly1009Ser) c.3007G>A (p.Gly1003Ser) | gnomAD v4 |
22 | g.50720861G>C | CA515260504 | SHANK3 | c.2629G>C (p.Gly877Arg) n.3213G>C c.1681G>C (p.Gly561Arg) c.1171G>C (p.Gly391Arg) c.*1627G>C (n.*1627G>C) c.3025G>C (p.Gly1009Arg) c.3007G>C (p.Gly1003Arg) | |
22 | g.50720861G>T | CA515260505 | SHANK3 | c.2629G>T (p.Gly877Cys) n.3213G>T c.1681G>T (p.Gly561Cys) c.1171G>T (p.Gly391Cys) c.*1627G>T (n.*1627G>T) c.3025G>T (p.Gly1009Cys) c.3007G>T (p.Gly1003Cys) | gnomAD v4 |
22 | g.50720862G>A | CA515260508 | SHANK3 | c.2630G>A (p.Gly877Asp) n.3214G>A c.1682G>A (p.Gly561Asp) c.1172G>A (p.Gly391Asp) c.*1628G>A (n.*1628G>A) c.3026G>A (p.Gly1009Asp) c.3008G>A (p.Gly1003Asp) | gnomAD v4 |
22 | g.50720862G>C | CA515260507 | SHANK3 | c.2630G>C (p.Gly877Ala) n.3214G>C c.1682G>C (p.Gly561Ala) c.1172G>C (p.Gly391Ala) c.*1628G>C (n.*1628G>C) c.3026G>C (p.Gly1009Ala) c.3008G>C (p.Gly1003Ala) | |
22 | g.50720862G>T | CA515260506 | SHANK3 | c.2630G>T (p.Gly877Val) n.3214G>T c.1682G>T (p.Gly561Val) c.1172G>T (p.Gly391Val) c.*1628G>T (n.*1628G>T) c.3026G>T (p.Gly1009Val) c.3008G>T (p.Gly1003Val) | gnomAD v4 |
22 | g.50720863C>A | CA515260509 | SHANK3 | c.2631C>A (p.Gly877=) n.3215C>A c.1683C>A (p.Gly561=) c.1173C>A (p.Gly391=) c.*1629C>A (n.*1629C>A) c.3027C>A (p.Gly1009=) c.3009C>A (p.Gly1003=) | gnomAD v4 |
22 | g.50720863C= | CA2411007873 | SHANK3 | c.2631C= (p.Gly877=) n.3215C= c.1683C= (p.Gly561=) c.1173C= (p.Gly391=) c.*1629C= (n.*1629C=) c.3027C= (p.Gly1009=) c.3009C= (p.Gly1003=) | |
22 | g.50720863C>G | CA515260510 | SHANK3 | c.2631C>G (p.Gly877=) n.3215C>G c.1683C>G (p.Gly561=) c.1173C>G (p.Gly391=) c.*1629C>G (n.*1629C>G) c.3027C>G (p.Gly1009=) c.3009C>G (p.Gly1003=) | |
22 | g.50720863C>T | CA515260511 | SHANK3 | c.2631C>T (p.Gly877=) n.3215C>T c.1683C>T (p.Gly561=) c.1173C>T (p.Gly391=) c.*1629C>T (n.*1629C>T) c.3027C>T (p.Gly1009=) c.3009C>T (p.Gly1003=) | dbSNP gnomAD v4 |
22 | g.50720864G>A | CA515260512 | SHANK3 | c.2632G>A (p.Gly878Ser) n.3216G>A c.1684G>A (p.Gly562Ser) c.1174G>A (p.Gly392Ser) c.*1630G>A (n.*1630G>A) c.3028G>A (p.Gly1010Ser) c.3010G>A (p.Gly1004Ser) | gnomAD v4 |
22 | g.50720864G>C | CA515260513 | SHANK3 | c.2632G>C (p.Gly878Arg) n.3216G>C c.1684G>C (p.Gly562Arg) c.1174G>C (p.Gly392Arg) c.*1630G>C (n.*1630G>C) c.3028G>C (p.Gly1010Arg) c.3010G>C (p.Gly1004Arg) | |
22 | g.50720864G>T | CA515260514 | SHANK3 | c.2632G>T (p.Gly878Cys) n.3216G>T c.1684G>T (p.Gly562Cys) c.1174G>T (p.Gly392Cys) c.*1630G>T (n.*1630G>T) c.3028G>T (p.Gly1010Cys) c.3010G>T (p.Gly1004Cys) | gnomAD v4 |
22 | g.50720865G>A | CA515260515 | SHANK3 | c.2633G>A (p.Gly878Asp) n.3217G>A c.1685G>A (p.Gly562Asp) c.1175G>A (p.Gly392Asp) c.*1631G>A (n.*1631G>A) c.3029G>A (p.Gly1010Asp) c.3011G>A (p.Gly1004Asp) | gnomAD v4 |
22 | g.50720865G>C | CA515260516 | SHANK3 | c.2633G>C (p.Gly878Ala) n.3217G>C c.1685G>C (p.Gly562Ala) c.1175G>C (p.Gly392Ala) c.*1631G>C (n.*1631G>C) c.3029G>C (p.Gly1010Ala) c.3011G>C (p.Gly1004Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720865G= | CA2411007874 | SHANK3 | c.2633G= (p.Gly878=) n.3217G= c.1685G= (p.Gly562=) c.1175G= (p.Gly392=) c.*1631G= (n.*1631G=) c.3029G= (p.Gly1010=) c.3011G= (p.Gly1004=) | |
22 | g.50720865G>T | CA10325945 | SHANK3 | c.2633G>T (p.Gly878Val) n.3217G>T c.1685G>T (p.Gly562Val) c.1175G>T (p.Gly392Val) c.*1631G>T (n.*1631G>T) c.3029G>T (p.Gly1010Val) c.3011G>T (p.Gly1004Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720866C>A | CA515260517 | SHANK3 | c.2634C>A (p.Gly878=) n.3218C>A c.1686C>A (p.Gly562=) c.1176C>A (p.Gly392=) c.*1632C>A (n.*1632C>A) c.3030C>A (p.Gly1010=) c.3012C>A (p.Gly1004=) | gnomAD v4 |
22 | g.50720866C>G | CA515260518 | SHANK3 | c.2634C>G (p.Gly878=) n.3218C>G c.1686C>G (p.Gly562=) c.1176C>G (p.Gly392=) c.*1632C>G (n.*1632C>G) c.3030C>G (p.Gly1010=) c.3012C>G (p.Gly1004=) | gnomAD v4 |
22 | g.50720866C>T | CA515260519 | SHANK3 | c.2634C>T (p.Gly878=) n.3218C>T c.1686C>T (p.Gly562=) c.1176C>T (p.Gly392=) c.*1632C>T (n.*1632C>T) c.3030C>T (p.Gly1010=) c.3012C>T (p.Gly1004=) | gnomAD v4 |
22 | g.50720868del | CA2819316118 | SHANK3 | c.2636del (p.Pro879ArgfsTer?) n.3220del c.1688del (p.Pro563ArgfsTer?) c.1178del (p.Pro393ArgfsTer?) c.*1634del (n.*1634del) c.3032del (p.Pro1011ArgfsTer?) c.3014del (p.Pro1005ArgfsTer?) | |
22 | g.50720873_50720874insGCCGAACGCGAGCCCCGGGCC | CA2819316117 | SHANK3 | c.2641_2642insGCCGAACGCGAGCCCCGGGCC (p.Gly880_Pro881insArgArgThrArgAlaProGly) n.3225_3226insGCCGAACGCGAGCCCCGGGCC c.1693_1694insGCCGAACGCGAGCCCCGGGCC (p.Gly564_Pro565insArgArgThrArgAlaProGly) c.1183_1184insGCCGAACGCGAGCCCCGGGCC (p.Gly394_Pro395insArgArgThrArgAlaProGly) c.*1639_*1640insGCCGAACGCGAGCCCCGGGCC (n.*1639_*1640insGCCGAACGCGAGCCCCGGGCC) c.3037_3038insGCCGAACGCGAGCCCCGGGCC (p.Gly1012_Pro1013insArgArgThrArgAlaProGly) c.3019_3020insGCCGAACGCGAGCCCCGGGCC (p.Gly1006_Pro1007insArgArgThrArgAlaProGly) | |
22 | g.50720867C>A | CA515260520 | SHANK3 | c.2635C>A (p.Pro879Thr) n.3219C>A c.1687C>A (p.Pro563Thr) c.1177C>A (p.Pro393Thr) c.*1633C>A (n.*1633C>A) c.3031C>A (p.Pro1011Thr) c.3013C>A (p.Pro1005Thr) | gnomAD v4 |
22 | g.50720867C= | CA2411007875 | SHANK3 | c.2635C= (p.Pro879=) n.3219C= c.1687C= (p.Pro563=) c.1177C= (p.Pro393=) c.*1633C= (n.*1633C=) c.3031C= (p.Pro1011=) c.3013C= (p.Pro1005=) | |
22 | g.50720867C>G | CA515260521 | SHANK3 | c.2635C>G (p.Pro879Ala) n.3219C>G c.1687C>G (p.Pro563Ala) c.1177C>G (p.Pro393Ala) c.*1633C>G (n.*1633C>G) c.3031C>G (p.Pro1011Ala) c.3013C>G (p.Pro1005Ala) | dbSNP |
22 | g.50720867C>T | CA515260522 | SHANK3 | c.2635C>T (p.Pro879Ser) n.3219C>T c.1687C>T (p.Pro563Ser) c.1177C>T (p.Pro393Ser) c.*1633C>T (n.*1633C>T) c.3031C>T (p.Pro1011Ser) c.3013C>T (p.Pro1005Ser) | |
22 | g.50720868C>A | CA515260523 | SHANK3 | c.2636C>A (p.Pro879Gln) n.3220C>A c.1688C>A (p.Pro563Gln) c.1178C>A (p.Pro393Gln) c.*1634C>A (n.*1634C>A) c.3032C>A (p.Pro1011Gln) c.3014C>A (p.Pro1005Gln) | gnomAD v4 |
22 | g.50720868C= | CA2411007876 | SHANK3 | c.2636C= (p.Pro879=) n.3220C= c.1688C= (p.Pro563=) c.1178C= (p.Pro393=) c.*1634C= (n.*1634C=) c.3032C= (p.Pro1011=) c.3014C= (p.Pro1005=) | |
22 | g.50720868C>G | CA515260524 | SHANK3 | c.2636C>G (p.Pro879Arg) n.3220C>G c.1688C>G (p.Pro563Arg) c.1178C>G (p.Pro393Arg) c.*1634C>G (n.*1634C>G) c.3032C>G (p.Pro1011Arg) c.3014C>G (p.Pro1005Arg) | |
22 | g.50720868C>T | CA515260525 | SHANK3 | c.2636C>T (p.Pro879Leu) n.3220C>T c.1688C>T (p.Pro563Leu) c.1178C>T (p.Pro393Leu) c.*1634C>T (n.*1634C>T) c.3032C>T (p.Pro1011Leu) c.3014C>T (p.Pro1005Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720869G>A | CA515260526 | SHANK3 | c.2637G>A (p.Pro879=) n.3221G>A c.1689G>A (p.Pro563=) c.1179G>A (p.Pro393=) c.*1635G>A (n.*1635G>A) c.3033G>A (p.Pro1011=) c.3015G>A (p.Pro1005=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720869G>C | CA515260527 | SHANK3 | c.2637G>C (p.Pro879=) n.3221G>C c.1689G>C (p.Pro563=) c.1179G>C (p.Pro393=) c.*1635G>C (n.*1635G>C) c.3033G>C (p.Pro1011=) c.3015G>C (p.Pro1005=) | gnomAD v4 |
22 | g.50720869G= | CA2411007877 | SHANK3 | c.2637G= (p.Pro879=) n.3221G= c.1689G= (p.Pro563=) c.1179G= (p.Pro393=) c.*1635G= (n.*1635G=) c.3033G= (p.Pro1011=) c.3015G= (p.Pro1005=) | |
22 | g.50720869G>T | CA515260528 | SHANK3 | c.2637G>T (p.Pro879=) n.3221G>T c.1689G>T (p.Pro563=) c.1179G>T (p.Pro393=) c.*1635G>T (n.*1635G>T) c.3033G>T (p.Pro1011=) c.3015G>T (p.Pro1005=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720871del | CA2657583417 | SHANK3 | c.2639del (p.Gly880AlafsTer?) n.3223del c.1691del (p.Gly564AlafsTer?) c.1181del (p.Gly394AlafsTer?) c.*1637del (n.*1637del) c.3035del (p.Gly1012AlafsTer?) c.3017del (p.Gly1006AlafsTer?) | gnomAD v4 |
22 | g.50720870G>A | CA515260529 | SHANK3 | c.2638G>A (p.Gly880Ser) n.3222G>A c.1690G>A (p.Gly564Ser) c.1180G>A (p.Gly394Ser) c.*1636G>A (n.*1636G>A) c.3034G>A (p.Gly1012Ser) c.3016G>A (p.Gly1006Ser) | gnomAD v4 |
22 | g.50720870G>C | CA515260531 | SHANK3 | c.2638G>C (p.Gly880Arg) n.3222G>C c.1690G>C (p.Gly564Arg) c.1180G>C (p.Gly394Arg) c.*1636G>C (n.*1636G>C) c.3034G>C (p.Gly1012Arg) c.3016G>C (p.Gly1006Arg) | |
22 | g.50720870G>T | CA515260530 | SHANK3 | c.2638G>T (p.Gly880Cys) n.3222G>T c.1690G>T (p.Gly564Cys) c.1180G>T (p.Gly394Cys) c.*1636G>T (n.*1636G>T) c.3034G>T (p.Gly1012Cys) c.3016G>T (p.Gly1006Cys) | gnomAD v4 |
22 | g.50720871G>A | CA515260532 | SHANK3 | c.2639G>A (p.Gly880Asp) n.3223G>A c.1691G>A (p.Gly564Asp) c.1181G>A (p.Gly394Asp) c.*1637G>A (n.*1637G>A) c.3035G>A (p.Gly1012Asp) c.3017G>A (p.Gly1006Asp) | gnomAD v4 |
22 | g.50720871G>C | CA515260533 | SHANK3 | c.2639G>C (p.Gly880Ala) n.3223G>C c.1691G>C (p.Gly564Ala) c.1181G>C (p.Gly394Ala) c.*1637G>C (n.*1637G>C) c.3035G>C (p.Gly1012Ala) c.3017G>C (p.Gly1006Ala) | gnomAD v4 |
22 | g.50720871G= | CA2411007878 | SHANK3 | c.2639G= (p.Gly880=) n.3223G= c.1691G= (p.Gly564=) c.1181G= (p.Gly394=) c.*1637G= (n.*1637G=) c.3035G= (p.Gly1012=) c.3017G= (p.Gly1006=) | |
22 | g.50720871G>T | CA515260534 | SHANK3 | c.2639G>T (p.Gly880Val) n.3223G>T c.1691G>T (p.Gly564Val) c.1181G>T (p.Gly394Val) c.*1637G>T (n.*1637G>T) c.3035G>T (p.Gly1012Val) c.3017G>T (p.Gly1006Val) | dbSNP gnomAD v4 |
22 | g.50720872C>A | CA515260535 | SHANK3 | c.2640C>A (p.Gly880=) n.3224C>A c.1692C>A (p.Gly564=) c.1182C>A (p.Gly394=) c.*1638C>A (n.*1638C>A) c.3036C>A (p.Gly1012=) c.3018C>A (p.Gly1006=) | gnomAD v4 |
22 | g.50720872C= | CA2411007879 | SHANK3 | c.2640C= (p.Gly880=) n.3224C= c.1692C= (p.Gly564=) c.1182C= (p.Gly394=) c.*1638C= (n.*1638C=) c.3036C= (p.Gly1012=) c.3018C= (p.Gly1006=) | |
22 | g.50720872C>G | CA515260536 | SHANK3 | c.2640C>G (p.Gly880=) n.3224C>G c.1692C>G (p.Gly564=) c.1182C>G (p.Gly394=) c.*1638C>G (n.*1638C>G) c.3036C>G (p.Gly1012=) c.3018C>G (p.Gly1006=) | |
22 | g.50720872C>T | CA515260537 | SHANK3 | c.2640C>T (p.Gly880=) n.3224C>T c.1692C>T (p.Gly564=) c.1182C>T (p.Gly394=) c.*1638C>T (n.*1638C>T) c.3036C>T (p.Gly1012=) c.3018C>T (p.Gly1006=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720873_50720878dup | CA2577768681 | SHANK3 | c.2641_2646dup (p.Ala882_Lys883insProAla) n.3225_3230dup c.1693_1698dup (p.Ala566_Lys567insProAla) c.1183_1188dup (p.Ala396_Lys397insProAla) c.*1639_*1644dup (n.*1639_*1644dup) c.3037_3042dup (p.Ala1014_Lys1015insProAla) c.3019_3024dup (p.Ala1008_Lys1009insProAla) | gnomAD v4 |
22 | g.50720872_50720883delinsCCCGGCCAAGGA | CA2411007880 | SHANK3 | c.2640_2651delinsCCCGGCCAAGGA (p.Gly880=) n.3224_3235delinsCCCGGCCAAGGA c.1692_1703delinsCCCGGCCAAGGA (p.Gly564=) c.1182_1193delinsCCCGGCCAAGGA (p.Gly394=) c.*1638_*1649delinsCCCGGCCAAGGA (n.*1638_*1649delinsCCCGGCCAAGGA) c.3036_3047delinsCCCGGCCAAGGA (p.Gly1012=) c.3018_3029delinsCCCGGCCAAGGA (p.Gly1006=) | |
22 | g.50720873C>A | CA515260538 | SHANK3 | c.2641C>A (p.Pro881Thr) n.3225C>A c.1693C>A (p.Pro565Thr) c.1183C>A (p.Pro395Thr) c.*1639C>A (n.*1639C>A) c.3037C>A (p.Pro1013Thr) c.3019C>A (p.Pro1007Thr) | gnomAD v4 |
22 | g.50720873C= | CA2411007881 | SHANK3 | c.2641C= (p.Pro881=) n.3225C= c.1693C= (p.Pro565=) c.1183C= (p.Pro395=) c.*1639C= (n.*1639C=) c.3037C= (p.Pro1013=) c.3019C= (p.Pro1007=) | |
22 | g.50720873C>G | CA515260539 | SHANK3 | c.2641C>G (p.Pro881Ala) n.3225C>G c.1693C>G (p.Pro565Ala) c.1183C>G (p.Pro395Ala) c.*1639C>G (n.*1639C>G) c.3037C>G (p.Pro1013Ala) c.3019C>G (p.Pro1007Ala) | dbSNP |
22 | g.50720873C>T | CA515260540 | SHANK3 | c.2641C>T (p.Pro881Ser) n.3225C>T c.1693C>T (p.Pro565Ser) c.1183C>T (p.Pro395Ser) c.*1639C>T (n.*1639C>T) c.3037C>T (p.Pro1013Ser) c.3019C>T (p.Pro1007Ser) | dbSNP |
22 | g.50720878_50720888del | CA1139667202 | SHANK3 | c.2646_2656del (p.Lys883AlafsTer?) n.3230_3240del c.1698_1708del (p.Lys567AlafsTer?) c.1188_1198del (p.Lys397AlafsTer?) c.*1644_*1654del (n.*1644_*1654del) c.3042_3052del (p.Lys1015AlafsTer?) c.3024_3034del (p.Lys1009AlafsTer?) | ClinVar dbSNP |
22 | g.50720874C>A | CA515260541 | SHANK3 | c.2642C>A (p.Pro881Gln) n.3226C>A c.1694C>A (p.Pro565Gln) c.1184C>A (p.Pro395Gln) c.*1640C>A (n.*1640C>A) c.3038C>A (p.Pro1013Gln) c.3020C>A (p.Pro1007Gln) | gnomAD v4 |
22 | g.50720874C= | CA2411007882 | SHANK3 | c.2642C= (p.Pro881=) n.3226C= c.1694C= (p.Pro565=) c.1184C= (p.Pro395=) c.*1640C= (n.*1640C=) c.3038C= (p.Pro1013=) c.3020C= (p.Pro1007=) | |
22 | g.50720874C>G | CA515260542 | SHANK3 | c.2642C>G (p.Pro881Arg) n.3226C>G c.1694C>G (p.Pro565Arg) c.1184C>G (p.Pro395Arg) c.*1640C>G (n.*1640C>G) c.3038C>G (p.Pro1013Arg) c.3020C>G (p.Pro1007Arg) | |
22 | g.50720874C>T | CA515260543 | SHANK3 | c.2642C>T (p.Pro881Leu) n.3226C>T c.1694C>T (p.Pro565Leu) c.1184C>T (p.Pro395Leu) c.*1640C>T (n.*1640C>T) c.3038C>T (p.Pro1013Leu) c.3020C>T (p.Pro1007Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720874_50720875insAA | CA2544619542 | SHANK3 | c.2642_2643insAA (p.Ala882ArgfsTer?) n.3226_3227insAA c.1694_1695insAA (p.Ala566ArgfsTer?) c.1184_1185insAA (p.Ala396ArgfsTer?) c.*1640_*1641insAA (n.*1640_*1641insAA) c.3038_3039insAA (p.Ala1014ArgfsTer?) c.3020_3021insAA (p.Ala1008ArgfsTer?) | |
22 | g.50720875G>A | CA10325946 | SHANK3 | c.2643G>A (p.Pro881=) n.3227G>A c.1695G>A (p.Pro565=) c.1185G>A (p.Pro395=) c.*1641G>A (n.*1641G>A) c.3039G>A (p.Pro1013=) c.3021G>A (p.Pro1007=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50720875G>C | CA515260544 | SHANK3 | c.2643G>C (p.Pro881=) n.3227G>C c.1695G>C (p.Pro565=) c.1185G>C (p.Pro395=) c.*1641G>C (n.*1641G>C) c.3039G>C (p.Pro1013=) c.3021G>C (p.Pro1007=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720875G= | CA2411007883 | SHANK3 | c.2643G= (p.Pro881=) n.3227G= c.1695G= (p.Pro565=) c.1185G= (p.Pro395=) c.*1641G= (n.*1641G=) c.3039G= (p.Pro1013=) c.3021G= (p.Pro1007=) | |
22 | g.50720875G>T | CA515260545 | SHANK3 | c.2643G>T (p.Pro881=) n.3227G>T c.1695G>T (p.Pro565=) c.1185G>T (p.Pro395=) c.*1641G>T (n.*1641G>T) c.3039G>T (p.Pro1013=) c.3021G>T (p.Pro1007=) | |
22 | g.50720876G>A | CA515260546 | SHANK3 | c.2644G>A (p.Ala882Thr) n.3228G>A c.1696G>A (p.Ala566Thr) c.1186G>A (p.Ala396Thr) c.*1642G>A (n.*1642G>A) c.3040G>A (p.Ala1014Thr) c.3022G>A (p.Ala1008Thr) | gnomAD v4 |
22 | g.50720876G>C | CA515260547 | SHANK3 | c.2644G>C (p.Ala882Pro) n.3228G>C c.1696G>C (p.Ala566Pro) c.1186G>C (p.Ala396Pro) c.*1642G>C (n.*1642G>C) c.3040G>C (p.Ala1014Pro) c.3022G>C (p.Ala1008Pro) | gnomAD v4 |
22 | g.50720876G>T | CA515260548 | SHANK3 | c.2644G>T (p.Ala882Ser) n.3228G>T c.1696G>T (p.Ala566Ser) c.1186G>T (p.Ala396Ser) c.*1642G>T (n.*1642G>T) c.3040G>T (p.Ala1014Ser) c.3022G>T (p.Ala1008Ser) | gnomAD v4 |
22 | g.50720876_50720877del | CA2515735889 | SHANK3 | c.2644_2645del (p.Ala882GlnfsTer?) n.3228_3229del c.1696_1697del (p.Ala566GlnfsTer?) c.1186_1187del (p.Ala396GlnfsTer?) c.*1642_*1643del (n.*1642_*1643del) c.3040_3041del (p.Ala1014GlnfsTer?) c.3022_3023del (p.Ala1008GlnfsTer?) | |
22 | g.50720877C>A | CA515260549 | SHANK3 | c.2645C>A (p.Ala882Asp) n.3229C>A c.1697C>A (p.Ala566Asp) c.1187C>A (p.Ala396Asp) c.*1643C>A (n.*1643C>A) c.3041C>A (p.Ala1014Asp) c.3023C>A (p.Ala1008Asp) | gnomAD v4 |
22 | g.50720877C>G | CA515260550 | SHANK3 | c.2645C>G (p.Ala882Gly) n.3229C>G c.1697C>G (p.Ala566Gly) c.1187C>G (p.Ala396Gly) c.*1643C>G (n.*1643C>G) c.3041C>G (p.Ala1014Gly) c.3023C>G (p.Ala1008Gly) | gnomAD v3 gnomAD v4 |
22 | g.50720877C>T | CA515260551 | SHANK3 | c.2645C>T (p.Ala882Val) n.3229C>T c.1697C>T (p.Ala566Val) c.1187C>T (p.Ala396Val) c.*1643C>T (n.*1643C>T) c.3041C>T (p.Ala1014Val) c.3023C>T (p.Ala1008Val) | gnomAD v4 |
22 | g.50720878C>A | CA515260552 | SHANK3 | c.2646C>A (p.Ala882=) n.3230C>A c.1698C>A (p.Ala566=) c.1188C>A (p.Ala396=) c.*1644C>A (n.*1644C>A) c.3042C>A (p.Ala1014=) c.3024C>A (p.Ala1008=) | gnomAD v4 |
22 | g.50720878C= | CA2411007884 | SHANK3 | c.2646C= (p.Ala882=) n.3230C= c.1698C= (p.Ala566=) c.1188C= (p.Ala396=) c.*1644C= (n.*1644C=) c.3042C= (p.Ala1014=) c.3024C= (p.Ala1008=) | |
22 | g.50720878C>G | CA515260553 | SHANK3 | c.2646C>G (p.Ala882=) n.3230C>G c.1698C>G (p.Ala566=) c.1188C>G (p.Ala396=) c.*1644C>G (n.*1644C>G) c.3042C>G (p.Ala1014=) c.3024C>G (p.Ala1008=) | gnomAD v4 |
22 | g.50720878C>T | CA10325947 | SHANK3 | c.2646C>T (p.Ala882=) n.3230C>T c.1698C>T (p.Ala566=) c.1188C>T (p.Ala396=) c.*1644C>T (n.*1644C>T) c.3042C>T (p.Ala1014=) c.3024C>T (p.Ala1008=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720878_50720893delinsCAAGGACCGGCGGCTG | CA2411007885 | SHANK3 | c.2646_2661delinsCAAGGACCGGCGGCTG (p.Ala882=) n.3230_3245delinsCAAGGACCGGCGGCTG c.1698_1713delinsCAAGGACCGGCGGCTG (p.Ala566=) c.1188_1203delinsCAAGGACCGGCGGCTG (p.Ala396=) c.*1644_*1659delinsCAAGGACCGGCGGCTG (n.*1644_*1659delinsCAAGGACCGGCGGCTG) c.3042_3057delinsCAAGGACCGGCGGCTG (p.Ala1014=) c.3024_3039delinsCAAGGACCGGCGGCTG (p.Ala1008=) | |
22 | g.50720879A>C | CA515260554 | SHANK3 | c.2647A>C (p.Lys883Gln) n.3231A>C c.1699A>C (p.Lys567Gln) c.1189A>C (p.Lys397Gln) c.*1645A>C (n.*1645A>C) c.3043A>C (p.Lys1015Gln) c.3025A>C (p.Lys1009Gln) | gnomAD v4 |
22 | g.50720879A>G | CA515260555 | SHANK3 | c.2647A>G (p.Lys883Glu) n.3231A>G c.1699A>G (p.Lys567Glu) c.1189A>G (p.Lys397Glu) c.*1645A>G (n.*1645A>G) c.3043A>G (p.Lys1015Glu) c.3025A>G (p.Lys1009Glu) | gnomAD v4 |
22 | g.50720879A>T | CA515260556 | SHANK3 | c.2647A>T (p.Lys883Ter) n.3231A>T c.1699A>T (p.Lys567Ter) c.1189A>T (p.Lys397Ter) c.*1645A>T (n.*1645A>T) c.3043A>T (p.Lys1015Ter) c.3025A>T (p.Lys1009Ter) | |
22 | g.50720879_50720893del | CA2411007886 | SHANK3 | c.2647_2661del (p.Lys883_Leu887del) n.3231_3245del c.1699_1713del (p.Lys567_Leu571del) c.1189_1203del (p.Lys397_Leu401del) c.*1645_*1659del (n.*1645_*1659del) c.3043_3057del (p.Lys1015_Leu1019del) c.3025_3039del (p.Lys1009_Leu1013del) | dbSNP gnomAD v4 |
22 | g.50720880A>C | CA515260559 | SHANK3 | c.2648A>C (p.Lys883Thr) n.3232A>C c.1700A>C (p.Lys567Thr) c.1190A>C (p.Lys397Thr) c.*1646A>C (n.*1646A>C) c.3044A>C (p.Lys1015Thr) c.3026A>C (p.Lys1009Thr) | gnomAD v4 |
22 | g.50720880A>G | CA515260558 | SHANK3 | c.2648A>G (p.Lys883Arg) n.3232A>G c.1700A>G (p.Lys567Arg) c.1190A>G (p.Lys397Arg) c.*1646A>G (n.*1646A>G) c.3044A>G (p.Lys1015Arg) c.3026A>G (p.Lys1009Arg) | gnomAD v4 |
22 | g.50720880A>T | CA515260557 | SHANK3 | c.2648A>T (p.Lys883Met) n.3232A>T c.1700A>T (p.Lys567Met) c.1190A>T (p.Lys397Met) c.*1646A>T (n.*1646A>T) c.3044A>T (p.Lys1015Met) c.3026A>T (p.Lys1009Met) | |
22 | g.50720881G>A | CA10325948 | SHANK3 | c.2649G>A (p.Lys883=) n.3233G>A c.1701G>A (p.Lys567=) c.1191G>A (p.Lys397=) c.*1647G>A (n.*1647G>A) c.3045G>A (p.Lys1015=) c.3027G>A (p.Lys1009=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720881G>C | CA515260560 | SHANK3 | c.2649G>C (p.Lys883Asn) n.3233G>C c.1701G>C (p.Lys567Asn) c.1191G>C (p.Lys397Asn) c.*1647G>C (n.*1647G>C) c.3045G>C (p.Lys1015Asn) c.3027G>C (p.Lys1009Asn) | |
22 | g.50720881G= | CA2411007887 | SHANK3 | c.2649G= (p.Lys883=) n.3233G= c.1701G= (p.Lys567=) c.1191G= (p.Lys397=) c.*1647G= (n.*1647G=) c.3045G= (p.Lys1015=) c.3027G= (p.Lys1009=) | |
22 | g.50720881G>T | CA515260561 | SHANK3 | c.2649G>T (p.Lys883Asn) n.3233G>T c.1701G>T (p.Lys567Asn) c.1191G>T (p.Lys397Asn) c.*1647G>T (n.*1647G>T) c.3045G>T (p.Lys1015Asn) c.3027G>T (p.Lys1009Asn) | gnomAD v4 |
22 | g.50720882G>A | CA515260562 | SHANK3 | c.2650G>A (p.Asp884Asn) n.3234G>A c.1702G>A (p.Asp568Asn) c.1192G>A (p.Asp398Asn) c.*1648G>A (n.*1648G>A) c.3046G>A (p.Asp1016Asn) c.3028G>A (p.Asp1010Asn) | gnomAD v4 |
22 | g.50720882G>C | CA325578380 | SHANK3 | c.2650G>C (p.Asp884His) n.3234G>C c.1702G>C (p.Asp568His) c.1192G>C (p.Asp398His) c.*1648G>C (n.*1648G>C) c.3046G>C (p.Asp1016His) c.3028G>C (p.Asp1010His) | dbSNP |
22 | g.50720882G= | CA2411007888 | SHANK3 | c.2650G= (p.Asp884=) n.3234G= c.1702G= (p.Asp568=) c.1192G= (p.Asp398=) c.*1648G= (n.*1648G=) c.3046G= (p.Asp1016=) c.3028G= (p.Asp1010=) | |
22 | g.50720882G>T | CA515260563 | SHANK3 | c.2650G>T (p.Asp884Tyr) n.3234G>T c.1702G>T (p.Asp568Tyr) c.1192G>T (p.Asp398Tyr) c.*1648G>T (n.*1648G>T) c.3046G>T (p.Asp1016Tyr) c.3028G>T (p.Asp1010Tyr) | gnomAD v4 |
22 | g.50720883A>C | CA515260564 | SHANK3 | c.2651A>C (p.Asp884Ala) n.3235A>C c.1703A>C (p.Asp568Ala) c.1193A>C (p.Asp398Ala) c.*1649A>C (n.*1649A>C) c.3047A>C (p.Asp1016Ala) c.3029A>C (p.Asp1010Ala) | gnomAD v4 |
22 | g.50720883A>G | CA515260565 | SHANK3 | c.2651A>G (p.Asp884Gly) n.3235A>G c.1703A>G (p.Asp568Gly) c.1193A>G (p.Asp398Gly) c.*1649A>G (n.*1649A>G) c.3047A>G (p.Asp1016Gly) c.3029A>G (p.Asp1010Gly) | gnomAD v4 |
22 | g.50720883A>T | CA515260566 | SHANK3 | c.2651A>T (p.Asp884Val) n.3235A>T c.1703A>T (p.Asp568Val) c.1193A>T (p.Asp398Val) c.*1649A>T (n.*1649A>T) c.3047A>T (p.Asp1016Val) c.3029A>T (p.Asp1010Val) | |
22 | g.50720884C>A | CA515260567 | SHANK3 | c.2652C>A (p.Asp884Glu) n.3236C>A c.1704C>A (p.Asp568Glu) c.1194C>A (p.Asp398Glu) c.*1650C>A (n.*1650C>A) c.3048C>A (p.Asp1016Glu) c.3030C>A (p.Asp1010Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50720884C= | CA2411007889 | SHANK3 | c.2652C= (p.Asp884=) n.3236C= c.1704C= (p.Asp568=) c.1194C= (p.Asp398=) c.*1650C= (n.*1650C=) c.3048C= (p.Asp1016=) c.3030C= (p.Asp1010=) | |
22 | g.50720884C>G | CA515260568 | SHANK3 | c.2652C>G (p.Asp884Glu) n.3236C>G c.1704C>G (p.Asp568Glu) c.1194C>G (p.Asp398Glu) c.*1650C>G (n.*1650C>G) c.3048C>G (p.Asp1016Glu) c.3030C>G (p.Asp1010Glu) | gnomAD v4 |
22 | g.50720884C>T | CA515260569 | SHANK3 | c.2652C>T (p.Asp884=) n.3236C>T c.1704C>T (p.Asp568=) c.1194C>T (p.Asp398=) c.*1650C>T (n.*1650C>T) c.3048C>T (p.Asp1016=) c.3030C>T (p.Asp1010=) | dbSNP gnomAD v4 |
22 | g.50720885C>A | CA515260570 | SHANK3 | c.2653C>A (p.Arg885=) n.3237C>A c.1705C>A (p.Arg569=) c.1195C>A (p.Arg399=) c.*1651C>A (n.*1651C>A) c.3049C>A (p.Arg1017=) c.3031C>A (p.Arg1011=) | gnomAD v4 |
22 | g.50720885C= | CA2411007890 | SHANK3 | c.2653C= (p.Arg885=) n.3237C= c.1705C= (p.Arg569=) c.1195C= (p.Arg399=) c.*1651C= (n.*1651C=) c.3049C= (p.Arg1017=) c.3031C= (p.Arg1011=) | |
22 | g.50720885C>G | CA515260571 | SHANK3 | c.2653C>G (p.Arg885Gly) n.3237C>G c.1705C>G (p.Arg569Gly) c.1195C>G (p.Arg399Gly) c.*1651C>G (n.*1651C>G) c.3049C>G (p.Arg1017Gly) c.3031C>G (p.Arg1011Gly) | dbSNP |
22 | g.50720885C>T | CA515260572 | SHANK3 | c.2653C>T (p.Arg885Trp) n.3237C>T c.1705C>T (p.Arg569Trp) c.1195C>T (p.Arg399Trp) c.*1651C>T (n.*1651C>T) c.3049C>T (p.Arg1017Trp) c.3031C>T (p.Arg1011Trp) | ClinVar gnomAD v4 |
22 | g.50720886G>A | CA515260575 | SHANK3 | c.2654G>A (p.Arg885Gln) n.3238G>A c.1706G>A (p.Arg569Gln) c.1196G>A (p.Arg399Gln) c.*1652G>A (n.*1652G>A) c.3050G>A (p.Arg1017Gln) c.3032G>A (p.Arg1011Gln) | dbSNP gnomAD v4 |
22 | g.50720886G>C | CA515260573 | SHANK3 | c.2654G>C (p.Arg885Pro) n.3238G>C c.1706G>C (p.Arg569Pro) c.1196G>C (p.Arg399Pro) c.*1652G>C (n.*1652G>C) c.3050G>C (p.Arg1017Pro) c.3032G>C (p.Arg1011Pro) | |
22 | g.50720886G= | CA2411007891 | SHANK3 | c.2654G= (p.Arg885=) n.3238G= c.1706G= (p.Arg569=) c.1196G= (p.Arg399=) c.*1652G= (n.*1652G=) c.3050G= (p.Arg1017=) c.3032G= (p.Arg1011=) | |
22 | g.50720886G>T | CA515260574 | SHANK3 | c.2654G>T (p.Arg885Leu) n.3238G>T c.1706G>T (p.Arg569Leu) c.1196G>T (p.Arg399Leu) c.*1652G>T (n.*1652G>T) c.3050G>T (p.Arg1017Leu) c.3032G>T (p.Arg1011Leu) | gnomAD v4 |
22 | g.50720887G>A | CA515260576 | SHANK3 | c.2655G>A (p.Arg885=) n.3239G>A c.1707G>A (p.Arg569=) c.1197G>A (p.Arg399=) c.*1653G>A (n.*1653G>A) c.3051G>A (p.Arg1017=) c.3033G>A (p.Arg1011=) | gnomAD v4 |
22 | g.50720887G>C | CA515260577 | SHANK3 | c.2655G>C (p.Arg885=) n.3239G>C c.1707G>C (p.Arg569=) c.1197G>C (p.Arg399=) c.*1653G>C (n.*1653G>C) c.3051G>C (p.Arg1017=) c.3033G>C (p.Arg1011=) | ClinVar dbSNP gnomAD v4 |
22 | g.50720887G>T | CA515260578 | SHANK3 | c.2655G>T (p.Arg885=) n.3239G>T c.1707G>T (p.Arg569=) c.1197G>T (p.Arg399=) c.*1653G>T (n.*1653G>T) c.3051G>T (p.Arg1017=) c.3033G>T (p.Arg1011=) | gnomAD v4 |
22 | g.50720888_50720889del | CA2657583418 | SHANK3 | c.2656_2657del (p.Arg886AlafsTer?) n.3240_3241del c.1708_1709del (p.Arg570AlafsTer?) c.1198_1199del (p.Arg400AlafsTer?) c.*1654_*1655del (n.*1654_*1655del) c.3052_3053del (p.Arg1018AlafsTer?) c.3034_3035del (p.Arg1012AlafsTer?) | gnomAD v4 |
22 | g.50720888C>A | CA515260579 | SHANK3 | c.2656C>A (p.Arg886=) n.3240C>A c.1708C>A (p.Arg570=) c.1198C>A (p.Arg400=) c.*1654C>A (n.*1654C>A) c.3052C>A (p.Arg1018=) c.3034C>A (p.Arg1012=) | gnomAD v4 |
22 | g.50720888C= | CA2411007892 | SHANK3 | c.2656C= (p.Arg886=) n.3240C= c.1708C= (p.Arg570=) c.1198C= (p.Arg400=) c.*1654C= (n.*1654C=) c.3052C= (p.Arg1018=) c.3034C= (p.Arg1012=) | |
22 | g.50720888C>G | CA515260580 | SHANK3 | c.2656C>G (p.Arg886Gly) n.3240C>G c.1708C>G (p.Arg570Gly) c.1198C>G (p.Arg400Gly) c.*1654C>G (n.*1654C>G) c.3052C>G (p.Arg1018Gly) c.3034C>G (p.Arg1012Gly) | |
22 | g.50720888C>T | CA10325949 | SHANK3 | c.2656C>T (p.Arg886Trp) n.3240C>T c.1708C>T (p.Arg570Trp) c.1198C>T (p.Arg400Trp) c.*1654C>T (n.*1654C>T) c.3052C>T (p.Arg1018Trp) c.3034C>T (p.Arg1012Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50720889G>A | CA515260581 | SHANK3 | c.2657G>A (p.Arg886Gln) n.3241G>A c.1709G>A (p.Arg570Gln) c.1199G>A (p.Arg400Gln) c.*1655G>A (n.*1655G>A) c.3053G>A (p.Arg1018Gln) c.3035G>A (p.Arg1012Gln) | gnomAD v4 |
22 | g.50720889G>C | CA515260582 | SHANK3 | c.2657G>C (p.Arg886Pro) n.3241G>C c.1709G>C (p.Arg570Pro) c.1199G>C (p.Arg400Pro) c.*1655G>C (n.*1655G>C) c.3053G>C (p.Arg1018Pro) c.3035G>C (p.Arg1012Pro) | gnomAD v4 |
22 | g.50720889G>T | CA515260583 | SHANK3 | c.2657G>T (p.Arg886Leu) n.3241G>T c.1709G>T (p.Arg570Leu) c.1199G>T (p.Arg400Leu) c.*1655G>T (n.*1655G>T) c.3053G>T (p.Arg1018Leu) c.3035G>T (p.Arg1012Leu) | gnomAD v4 |
22 | g.50720890G>A | CA515260584 | SHANK3 | c.2658G>A (p.Arg886=) n.3242G>A c.1710G>A (p.Arg570=) c.1200G>A (p.Arg400=) c.*1656G>A (n.*1656G>A) c.3054G>A (p.Arg1018=) c.3036G>A (p.Arg1012=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50720890G>C | CA515260585 | SHANK3 | c.2658G>C (p.Arg886=) n.3242G>C c.1710G>C (p.Arg570=) c.1200G>C (p.Arg400=) c.*1656G>C (n.*1656G>C) c.3054G>C (p.Arg1018=) c.3036G>C (p.Arg1012=) | |
22 | g.50720890G= | CA2411007893 | SHANK3 | c.2658G= (p.Arg886=) n.3242G= c.1710G= (p.Arg570=) c.1200G= (p.Arg400=) c.*1656G= (n.*1656G=) c.3054G= (p.Arg1018=) c.3036G= (p.Arg1012=) | |
22 | g.50720890G>T | CA515260586 | SHANK3 | c.2658G>T (p.Arg886=) n.3242G>T c.1710G>T (p.Arg570=) c.1200G>T (p.Arg400=) c.*1656G>T (n.*1656G>T) c.3054G>T (p.Arg1018=) c.3036G>T (p.Arg1012=) | gnomAD v4 |
22 | g.50720891C>A | CA515260589 | SHANK3 | c.2659C>A (p.Leu887Met) n.3243C>A c.1711C>A (p.Leu571Met) c.1201C>A (p.Leu401Met) c.*1657C>A (n.*1657C>A) c.3055C>A (p.Leu1019Met) c.3037C>A (p.Leu1013Met) | gnomAD v4 |
22 | g.50720891C>G | CA515260588 | SHANK3 | c.2659C>G (p.Leu887Val) n.3243C>G c.1711C>G (p.Leu571Val) c.1201C>G (p.Leu401Val) c.*1657C>G (n.*1657C>G) c.3055C>G (p.Leu1019Val) c.3037C>G (p.Leu1013Val) | dbSNP |
22 | g.50720891C>T | CA515260587 | SHANK3 | c.2659C>T (p.Leu887=) n.3243C>T c.1711C>T (p.Leu571=) c.1201C>T (p.Leu401=) c.*1657C>T (n.*1657C>T) c.3055C>T (p.Leu1019=) c.3037C>T (p.Leu1013=) | gnomAD v4 |
22 | g.50720892T>A | CA515260592 | SHANK3 | c.2660T>A (p.Leu887Gln) n.3244T>A c.1712T>A (p.Leu571Gln) c.1202T>A (p.Leu401Gln) c.*1658T>A (n.*1658T>A) c.3056T>A (p.Leu1019Gln) c.3038T>A (p.Leu1013Gln) | |
22 | g.50720892T>C | CA515260590 | SHANK3 | c.2660T>C (p.Leu887Pro) n.3244T>C c.1712T>C (p.Leu571Pro) c.1202T>C (p.Leu401Pro) c.*1658T>C (n.*1658T>C) c.3056T>C (p.Leu1019Pro) c.3038T>C (p.Leu1013Pro) | gnomAD v4 |
22 | g.50720892T>G | CA515260591 | SHANK3 | c.2660T>G (p.Leu887Arg) n.3244T>G c.1712T>G (p.Leu571Arg) c.1202T>G (p.Leu401Arg) c.*1658T>G (n.*1658T>G) c.3056T>G (p.Leu1019Arg) c.3038T>G (p.Leu1013Arg) | gnomAD v4 |
22 | g.50720893G>A | CA515260593 | SHANK3 | c.2661G>A (p.Leu887=) n.3245G>A c.1713G>A (p.Leu571=) c.1203G>A (p.Leu401=) c.*1659G>A (n.*1659G>A) c.3057G>A (p.Leu1019=) c.3039G>A (p.Leu1013=) | gnomAD v4 |
22 | g.50720893G>C | CA515260594 | SHANK3 | c.2661G>C (p.Leu887=) n.3245G>C c.1713G>C (p.Leu571=) c.1203G>C (p.Leu401=) c.*1659G>C (n.*1659G>C) c.3057G>C (p.Leu1019=) c.3039G>C (p.Leu1013=) | gnomAD v4 |
22 | g.50720893G>T | CA515260595 | SHANK3 | c.2661G>T (p.Leu887=) n.3245G>T c.1713G>T (p.Leu571=) c.1203G>T (p.Leu401=) c.*1659G>T (n.*1659G>T) c.3057G>T (p.Leu1019=) c.3039G>T (p.Leu1013=) | gnomAD v4 |
22 | g.50720894del | CA2740092006 | SHANK3 | c.2662del (p.Glu888ArgfsTer?) n.3246del c.1714del (p.Glu572ArgfsTer?) c.1204del (p.Glu402ArgfsTer?) c.*1660del (n.*1660del) c.3058del (p.Glu1020ArgfsTer?) c.3040del (p.Glu1014ArgfsTer?) | ClinVar |
22 | g.50720894G>A | CA515260598 | SHANK3 | c.2662G>A (p.Glu888Lys) n.3246G>A c.1714G>A (p.Glu572Lys) c.1204G>A (p.Glu402Lys) c.*1660G>A (n.*1660G>A) c.3058G>A (p.Glu1020Lys) c.3040G>A (p.Glu1014Lys) | gnomAD v4 |
22 | g.50720894G>C | CA515260597 | SHANK3 | c.2662G>C (p.Glu888Gln) n.3246G>C c.1714G>C (p.Glu572Gln) c.1204G>C (p.Glu402Gln) c.*1660G>C (n.*1660G>C) c.3058G>C (p.Glu1020Gln) c.3040G>C (p.Glu1014Gln) | |
22 | g.50720894G>T | CA515260596 | SHANK3 | c.2662G>T (p.Glu888Ter) n.3246G>T c.1714G>T (p.Glu572Ter) c.1204G>T (p.Glu402Ter) c.*1660G>T (n.*1660G>T) c.3058G>T (p.Glu1020Ter) c.3040G>T (p.Glu1014Ter) | gnomAD v4 |
22 | g.50720895del | CA2657583419 | SHANK3 | c.2663del (p.Glu888GlyfsTer?) n.3247del c.1715del (p.Glu572GlyfsTer?) c.1205del (p.Glu402GlyfsTer?) c.*1661del (n.*1661del) c.3059del (p.Glu1020GlyfsTer?) c.3041del (p.Glu1014GlyfsTer?) | gnomAD v4 |
22 | g.50720895A= | CA2411007894 | SHANK3 | c.2663A= (p.Glu888=) n.3247A= c.1715A= (p.Glu572=) c.1205A= (p.Glu402=) c.*1661A= (n.*1661A=) c.3059A= (p.Glu1020=) c.3041A= (p.Glu1014=) | |
22 | g.50720895A>C | CA515260599 | SHANK3 | c.2663A>C (p.Glu888Ala) n.3247A>C c.1715A>C (p.Glu572Ala) c.1205A>C (p.Glu402Ala) c.*1661A>C (n.*1661A>C) c.3059A>C (p.Glu1020Ala) c.3041A>C (p.Glu1014Ala) | gnomAD v4 |
22 | g.50720895A>G | CA325578397 | SHANK3 | c.2663A>G (p.Glu888Gly) n.3247A>G c.1715A>G (p.Glu572Gly) c.1205A>G (p.Glu402Gly) c.*1661A>G (n.*1661A>G) c.3059A>G (p.Glu1020Gly) c.3041A>G (p.Glu1014Gly) | dbSNP gnomAD v4 |
22 | g.50720895A>T | CA515260600 | SHANK3 | c.2663A>T (p.Glu888Val) n.3247A>T c.1715A>T (p.Glu572Val) c.1205A>T (p.Glu402Val) c.*1661A>T (n.*1661A>T) c.3059A>T (p.Glu1020Val) c.3041A>T (p.Glu1014Val) | |
22 | g.50720896G>A | CA515260601 | SHANK3 | c.2664G>A (p.Glu888=) n.3248G>A c.1716G>A (p.Glu572=) c.1206G>A (p.Glu402=) c.*1662G>A (n.*1662G>A) c.3060G>A (p.Glu1020=) c.3042G>A (p.Glu1014=) | gnomAD v4 |
22 | g.50720896G>C | CA515260602 | SHANK3 | c.2664G>C (p.Glu888Asp) n.3248G>C c.1716G>C (p.Glu572Asp) c.1206G>C (p.Glu402Asp) c.*1662G>C (n.*1662G>C) c.3060G>C (p.Glu1020Asp) c.3042G>C (p.Glu1014Asp) | |
22 | g.50720896G>T | CA515260603 | SHANK3 | c.2664G>T (p.Glu888Asp) n.3248G>T c.1716G>T (p.Glu572Asp) c.1206G>T (p.Glu402Asp) c.*1662G>T (n.*1662G>T) c.3060G>T (p.Glu1020Asp) c.3042G>T (p.Glu1014Asp) | gnomAD v4 |
22 | g.50720897G>A | CA515260604 | SHANK3 | c.2665G>A (p.Glu889Lys) n.3249G>A c.1717G>A (p.Glu573Lys) c.1207G>A (p.Glu403Lys) c.*1663G>A (n.*1663G>A) c.3061G>A (p.Glu1021Lys) c.3043G>A (p.Glu1015Lys) | gnomAD v4 |
22 | g.50720897G>C | CA515260606 | SHANK3 | c.2665G>C (p.Glu889Gln) n.3249G>C c.1717G>C (p.Glu573Gln) c.1207G>C (p.Glu403Gln) c.*1663G>C (n.*1663G>C) c.3061G>C (p.Glu1021Gln) c.3043G>C (p.Glu1015Gln) | |
22 | g.50720897G>T | CA515260605 | SHANK3 | c.2665G>T (p.Glu889Ter) n.3249G>T c.1717G>T (p.Glu573Ter) c.1207G>T (p.Glu403Ter) c.*1663G>T (n.*1663G>T) c.3061G>T (p.Glu1021Ter) c.3043G>T (p.Glu1015Ter) | gnomAD v4 |
22 | g.50720898A= | CA2411007895 | SHANK3 | c.2666A= (p.Glu889=) n.3250A= c.1718A= (p.Glu573=) c.1208A= (p.Glu403=) c.*1664A= (n.*1664A=) c.3062A= (p.Glu1021=) c.3044A= (p.Glu1015=) | |
22 | g.50720898A>C | CA515260607 | SHANK3 | c.2666A>C (p.Glu889Ala) n.3250A>C c.1718A>C (p.Glu573Ala) c.1208A>C (p.Glu403Ala) c.*1664A>C (n.*1664A>C) c.3062A>C (p.Glu1021Ala) c.3044A>C (p.Glu1015Ala) | gnomAD v4 |
22 | g.50720898A>G | CA515260608 | SHANK3 | c.2666A>G (p.Glu889Gly) n.3250A>G c.1718A>G (p.Glu573Gly) c.1208A>G (p.Glu403Gly) c.*1664A>G (n.*1664A>G) c.3062A>G (p.Glu1021Gly) c.3044A>G (p.Glu1015Gly) | dbSNP gnomAD v4 |
22 | g.50720898A>T | CA515260609 | SHANK3 | c.2666A>T (p.Glu889Val) n.3250A>T c.1718A>T (p.Glu573Val) c.1208A>T (p.Glu403Val) c.*1664A>T (n.*1664A>T) c.3062A>T (p.Glu1021Val) c.3044A>T (p.Glu1015Val) | gnomAD v4 |