| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720208T>A | CA515258535 | SHANK3 | c.1976T>A (p.Leu659Gln) n.2560T>A c.1028T>A (p.Leu343Gln) c.518T>A (p.Leu173Gln) c.*974T>A (n.*974T>A) c.2372T>A (p.Leu791Gln) c.2354T>A (p.Leu785Gln) | |
| 22 | g.50720208T>C | CA515258533 | SHANK3 | c.1976T>C (p.Leu659Pro) n.2560T>C c.1028T>C (p.Leu343Pro) c.518T>C (p.Leu173Pro) c.*974T>C (n.*974T>C) c.2372T>C (p.Leu791Pro) c.2354T>C (p.Leu785Pro) | gnomAD v4 |
| 22 | g.50720208T>G | CA515258534 | SHANK3 | c.1976T>G (p.Leu659Arg) n.2560T>G c.1028T>G (p.Leu343Arg) c.518T>G (p.Leu173Arg) c.*974T>G (n.*974T>G) c.2372T>G (p.Leu791Arg) c.2354T>G (p.Leu785Arg) | |
| 22 | g.50720209G>A | CA515258536 | SHANK3 | c.1977G>A (p.Leu659=) n.2561G>A c.1029G>A (p.Leu343=) c.519G>A (p.Leu173=) c.*975G>A (n.*975G>A) c.2373G>A (p.Leu791=) c.2355G>A (p.Leu785=) | gnomAD v4 |
| 22 | g.50720209G>C | CA515258537 | SHANK3 | c.1977G>C (p.Leu659=) n.2561G>C c.1029G>C (p.Leu343=) c.519G>C (p.Leu173=) c.*975G>C (n.*975G>C) c.2373G>C (p.Leu791=) c.2355G>C (p.Leu785=) | |
| 22 | g.50720209G>T | CA515258538 | SHANK3 | c.1977G>T (p.Leu659=) n.2561G>T c.1029G>T (p.Leu343=) c.519G>T (p.Leu173=) c.*975G>T (n.*975G>T) c.2373G>T (p.Leu791=) c.2355G>T (p.Leu785=) | gnomAD v4 |
| 22 | g.50720210C>A | CA515258539 | SHANK3 | c.1978C>A (p.Leu660Met) n.2562C>A c.1030C>A (p.Leu344Met) c.520C>A (p.Leu174Met) c.*976C>A (n.*976C>A) c.2374C>A (p.Leu792Met) c.2356C>A (p.Leu786Met) | gnomAD v4 |
| 22 | g.50720210C= | CA2411007497 | SHANK3 | c.1978C= (p.Leu660=) n.2562C= c.1030C= (p.Leu344=) c.520C= (p.Leu174=) c.*976C= (n.*976C=) c.2374C= (p.Leu792=) c.2356C= (p.Leu786=) | |
| 22 | g.50720210C>G | CA10325920 | SHANK3 | c.1978C>G (p.Leu660Val) n.2562C>G c.1030C>G (p.Leu344Val) c.520C>G (p.Leu174Val) c.*976C>G (n.*976C>G) c.2374C>G (p.Leu792Val) c.2356C>G (p.Leu786Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720210C>T | CA515258541 | SHANK3 | c.1978C>T (p.Leu660=) n.2562C>T c.1030C>T (p.Leu344=) c.520C>T (p.Leu174=) c.*976C>T (n.*976C>T) c.2374C>T (p.Leu792=) c.2356C>T (p.Leu786=) | gnomAD v4 |
| 22 | g.50720211T>A | CA515258542 | SHANK3 | c.1979T>A (p.Leu660Gln) n.2563T>A c.1031T>A (p.Leu344Gln) c.521T>A (p.Leu174Gln) c.*977T>A (n.*977T>A) c.2375T>A (p.Leu792Gln) c.2357T>A (p.Leu786Gln) | dbSNP |
| 22 | g.50720211T>C | CA515258543 | SHANK3 | c.1979T>C (p.Leu660Pro) n.2563T>C c.1031T>C (p.Leu344Pro) c.521T>C (p.Leu174Pro) c.*977T>C (n.*977T>C) c.2375T>C (p.Leu792Pro) c.2357T>C (p.Leu786Pro) | gnomAD v4 |
| 22 | g.50720211T>G | CA515258545 | SHANK3 | c.1979T>G (p.Leu660Arg) n.2563T>G c.1031T>G (p.Leu344Arg) c.521T>G (p.Leu174Arg) c.*977T>G (n.*977T>G) c.2375T>G (p.Leu792Arg) c.2357T>G (p.Leu786Arg) | |
| 22 | g.50720211T= | CA2411007498 | SHANK3 | c.1979T= (p.Leu660=) n.2563T= c.1031T= (p.Leu344=) c.521T= (p.Leu174=) c.*977T= (n.*977T=) c.2375T= (p.Leu792=) c.2357T= (p.Leu786=) | |
| 22 | g.50720212G>A | CA515258547 | SHANK3 | c.1980G>A (p.Leu660=) n.2564G>A c.1032G>A (p.Leu344=) c.522G>A (p.Leu174=) c.*978G>A (n.*978G>A) c.2376G>A (p.Leu792=) c.2358G>A (p.Leu786=) | gnomAD v4 |
| 22 | g.50720212G>C | CA515258548 | SHANK3 | c.1980G>C (p.Leu660=) n.2564G>C c.1032G>C (p.Leu344=) c.522G>C (p.Leu174=) c.*978G>C (n.*978G>C) c.2376G>C (p.Leu792=) c.2358G>C (p.Leu786=) | |
| 22 | g.50720212G>T | CA515258549 | SHANK3 | c.1980G>T (p.Leu660=) n.2564G>T c.1032G>T (p.Leu344=) c.522G>T (p.Leu174=) c.*978G>T (n.*978G>T) c.2376G>T (p.Leu792=) c.2358G>T (p.Leu786=) | gnomAD v4 |
| 22 | g.50720213G>A | CA515258553 | SHANK3 | c.1981G>A (p.Glu661Lys) n.2565G>A c.1033G>A (p.Glu345Lys) c.523G>A (p.Glu175Lys) c.*979G>A (n.*979G>A) c.2377G>A (p.Glu793Lys) c.2359G>A (p.Glu787Lys) | |
| 22 | g.50720213G>C | CA515258551 | SHANK3 | c.1981G>C (p.Glu661Gln) n.2565G>C c.1033G>C (p.Glu345Gln) c.523G>C (p.Glu175Gln) c.*979G>C (n.*979G>C) c.2377G>C (p.Glu793Gln) c.2359G>C (p.Glu787Gln) | |
| 22 | g.50720213G>T | CA515258550 | SHANK3 | c.1981G>T (p.Glu661Ter) n.2565G>T c.1033G>T (p.Glu345Ter) c.523G>T (p.Glu175Ter) c.*979G>T (n.*979G>T) c.2377G>T (p.Glu793Ter) c.2359G>T (p.Glu787Ter) | gnomAD v4 |
| 22 | g.50720214A= | CA2411007499 | SHANK3 | c.1982A= (p.Glu661=) n.2566A= c.1034A= (p.Glu345=) c.524A= (p.Glu175=) c.*980A= (n.*980A=) c.2378A= (p.Glu793=) c.2360A= (p.Glu787=) | |
| 22 | g.50720214A>C | CA515258558 | SHANK3 | c.1982A>C (p.Glu661Ala) n.2566A>C c.1034A>C (p.Glu345Ala) c.524A>C (p.Glu175Ala) c.*980A>C (n.*980A>C) c.2378A>C (p.Glu793Ala) c.2360A>C (p.Glu787Ala) | |
| 22 | g.50720214A>G | CA515258554 | SHANK3 | c.1982A>G (p.Glu661Gly) n.2566A>G c.1034A>G (p.Glu345Gly) c.524A>G (p.Glu175Gly) c.*980A>G (n.*980A>G) c.2378A>G (p.Glu793Gly) c.2360A>G (p.Glu787Gly) | gnomAD v4 |
| 22 | g.50720214A>T | CA515258556 | SHANK3 | c.1982A>T (p.Glu661Val) n.2566A>T c.1034A>T (p.Glu345Val) c.524A>T (p.Glu175Val) c.*980A>T (n.*980A>T) c.2378A>T (p.Glu793Val) c.2360A>T (p.Glu787Val) | dbSNP |
| 22 | g.50720215A>C | CA515258559 | SHANK3 | c.1983A>C (p.Glu661Asp) n.2567A>C c.1035A>C (p.Glu345Asp) c.525A>C (p.Glu175Asp) c.*981A>C (n.*981A>C) c.2379A>C (p.Glu793Asp) c.2361A>C (p.Glu787Asp) | |
| 22 | g.50720215A>G | CA515258560 | SHANK3 | c.1983A>G (p.Glu661=) n.2567A>G c.1035A>G (p.Glu345=) c.525A>G (p.Glu175=) c.*981A>G (n.*981A>G) c.2379A>G (p.Glu793=) c.2361A>G (p.Glu787=) | gnomAD v4 |
| 22 | g.50720215A>T | CA515258562 | SHANK3 | c.1983A>T (p.Glu661Asp) n.2567A>T c.1035A>T (p.Glu345Asp) c.525A>T (p.Glu175Asp) c.*981A>T (n.*981A>T) c.2379A>T (p.Glu793Asp) c.2361A>T (p.Glu787Asp) | |
| 22 | g.50720216G>A | CA515258565 | SHANK3 | c.1984G>A (p.Gly662Arg) n.2568G>A c.1036G>A (p.Gly346Arg) c.526G>A (p.Gly176Arg) c.*982G>A (n.*982G>A) c.2380G>A (p.Gly794Arg) c.2362G>A (p.Gly788Arg) | gnomAD v4 |
| 22 | g.50720216G>C | CA515258564 | SHANK3 | c.1984G>C (p.Gly662Arg) n.2568G>C c.1036G>C (p.Gly346Arg) c.526G>C (p.Gly176Arg) c.*982G>C (n.*982G>C) c.2380G>C (p.Gly794Arg) c.2362G>C (p.Gly788Arg) | |
| 22 | g.50720216G>T | CA515258563 | SHANK3 | c.1984G>T (p.Gly662Trp) n.2568G>T c.1036G>T (p.Gly346Trp) c.526G>T (p.Gly176Trp) c.*982G>T (n.*982G>T) c.2380G>T (p.Gly794Trp) c.2362G>T (p.Gly788Trp) | gnomAD v4 |
| 22 | g.50720217G>A | CA515258566 | SHANK3 | c.1985G>A (p.Gly662Glu) n.2569G>A c.1037G>A (p.Gly346Glu) c.527G>A (p.Gly176Glu) c.*983G>A (n.*983G>A) c.2381G>A (p.Gly794Glu) c.2363G>A (p.Gly788Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720217G>C | CA515258567 | SHANK3 | c.1985G>C (p.Gly662Ala) n.2569G>C c.1037G>C (p.Gly346Ala) c.527G>C (p.Gly176Ala) c.*983G>C (n.*983G>C) c.2381G>C (p.Gly794Ala) c.2363G>C (p.Gly788Ala) | |
| 22 | g.50720217G= | CA2411007500 | SHANK3 | c.1985G= (p.Gly662=) n.2569G= c.1037G= (p.Gly346=) c.527G= (p.Gly176=) c.*983G= (n.*983G=) c.2381G= (p.Gly794=) c.2363G= (p.Gly788=) | |
| 22 | g.50720217G>T | CA515258568 | SHANK3 | c.1985G>T (p.Gly662Val) n.2569G>T c.1037G>T (p.Gly346Val) c.527G>T (p.Gly176Val) c.*983G>T (n.*983G>T) c.2381G>T (p.Gly794Val) c.2363G>T (p.Gly788Val) | gnomAD v4 |
| 22 | g.50720218G>A | CA515258569 | SHANK3 | c.1986G>A (p.Gly662=) n.2570G>A c.1038G>A (p.Gly346=) c.528G>A (p.Gly176=) c.*984G>A (n.*984G>A) c.2382G>A (p.Gly794=) c.2364G>A (p.Gly788=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720218G>C | CA325577975 | SHANK3 | c.1986G>C (p.Gly662=) n.2570G>C c.1038G>C (p.Gly346=) c.528G>C (p.Gly176=) c.*984G>C (n.*984G>C) c.2382G>C (p.Gly794=) c.2364G>C (p.Gly788=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720218G= | CA2411007501 | SHANK3 | c.1986G= (p.Gly662=) n.2570G= c.1038G= (p.Gly346=) c.528G= (p.Gly176=) c.*984G= (n.*984G=) c.2382G= (p.Gly794=) c.2364G= (p.Gly788=) | |
| 22 | g.50720218G>T | CA515258570 | SHANK3 | c.1986G>T (p.Gly662=) n.2570G>T c.1038G>T (p.Gly346=) c.528G>T (p.Gly176=) c.*984G>T (n.*984G>T) c.2382G>T (p.Gly794=) c.2364G>T (p.Gly788=) | gnomAD v4 |
| 22 | g.50720219C>A | CA515258571 | SHANK3 | c.1987C>A (p.Arg663Ser) n.2571C>A c.1039C>A (p.Arg347Ser) c.529C>A (p.Arg177Ser) c.*985C>A (n.*985C>A) c.2383C>A (p.Arg795Ser) c.2365C>A (p.Arg789Ser) | gnomAD v4 |
| 22 | g.50720219C= | CA2411007502 | SHANK3 | c.1987C= (p.Arg663=) n.2571C= c.1039C= (p.Arg347=) c.529C= (p.Arg177=) c.*985C= (n.*985C=) c.2383C= (p.Arg795=) c.2365C= (p.Arg789=) | |
| 22 | g.50720219C>G | CA515258574 | SHANK3 | c.1987C>G (p.Arg663Gly) n.2571C>G c.1039C>G (p.Arg347Gly) c.529C>G (p.Arg177Gly) c.*985C>G (n.*985C>G) c.2383C>G (p.Arg795Gly) c.2365C>G (p.Arg789Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720219C>T | CA515258572 | SHANK3 | c.1987C>T (p.Arg663Cys) n.2571C>T c.1039C>T (p.Arg347Cys) c.529C>T (p.Arg177Cys) c.*985C>T (n.*985C>T) c.2383C>T (p.Arg795Cys) c.2365C>T (p.Arg789Cys) | gnomAD v4 |
| 22 | g.50720220G>A | CA515258575 | SHANK3 | c.1988G>A (p.Arg663His) n.2572G>A c.1040G>A (p.Arg347His) c.530G>A (p.Arg177His) c.*986G>A (n.*986G>A) c.2384G>A (p.Arg795His) c.2366G>A (p.Arg789His) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720220G>C | CA515258577 | SHANK3 | c.1988G>C (p.Arg663Pro) n.2572G>C c.1040G>C (p.Arg347Pro) c.530G>C (p.Arg177Pro) c.*986G>C (n.*986G>C) c.2384G>C (p.Arg795Pro) c.2366G>C (p.Arg789Pro) | |
| 22 | g.50720220G= | CA2411007503 | SHANK3 | c.1988G= (p.Arg663=) n.2572G= c.1040G= (p.Arg347=) c.530G= (p.Arg177=) c.*986G= (n.*986G=) c.2384G= (p.Arg795=) c.2366G= (p.Arg789=) | |
| 22 | g.50720220G>T | CA515258578 | SHANK3 | c.1988G>T (p.Arg663Leu) n.2572G>T c.1040G>T (p.Arg347Leu) c.530G>T (p.Arg177Leu) c.*986G>T (n.*986G>T) c.2384G>T (p.Arg795Leu) c.2366G>T (p.Arg789Leu) | gnomAD v4 |
| 22 | g.50720221C>A | CA515258579 | SHANK3 | c.1989C>A (p.Arg663=) n.2573C>A c.1041C>A (p.Arg347=) c.531C>A (p.Arg177=) c.*987C>A (n.*987C>A) c.2385C>A (p.Arg795=) c.2367C>A (p.Arg789=) | gnomAD v4 |
| 22 | g.50720221C>G | CA515258580 | SHANK3 | c.1989C>G (p.Arg663=) n.2573C>G c.1041C>G (p.Arg347=) c.531C>G (p.Arg177=) c.*987C>G (n.*987C>G) c.2385C>G (p.Arg795=) c.2367C>G (p.Arg789=) | gnomAD v4 |
| 22 | g.50720221C>T | CA515258581 | SHANK3 | c.1989C>T (p.Arg663=) n.2573C>T c.1041C>T (p.Arg347=) c.531C>T (p.Arg177=) c.*987C>T (n.*987C>T) c.2385C>T (p.Arg795=) c.2367C>T (p.Arg789=) | |
| 22 | g.50720222T>A | CA515258582 | SHANK3 | c.1990T>A (p.Phe664Ile) n.2574T>A c.1042T>A (p.Phe348Ile) c.532T>A (p.Phe178Ile) c.*988T>A (n.*988T>A) c.2386T>A (p.Phe796Ile) c.2368T>A (p.Phe790Ile) | |
| 22 | g.50720222T>C | CA515258583 | SHANK3 | c.1990T>C (p.Phe664Leu) n.2574T>C c.1042T>C (p.Phe348Leu) c.532T>C (p.Phe178Leu) c.*988T>C (n.*988T>C) c.2386T>C (p.Phe796Leu) c.2368T>C (p.Phe790Leu) | gnomAD v4 |
| 22 | g.50720222T>G | CA515258584 | SHANK3 | c.1990T>G (p.Phe664Val) n.2574T>G c.1042T>G (p.Phe348Val) c.532T>G (p.Phe178Val) c.*988T>G (n.*988T>G) c.2386T>G (p.Phe796Val) c.2368T>G (p.Phe790Val) | |
| 22 | g.50720223T>A | CA515258585 | SHANK3 | c.1991T>A (p.Phe664Tyr) n.2575T>A c.1043T>A (p.Phe348Tyr) c.533T>A (p.Phe178Tyr) c.*989T>A (n.*989T>A) c.2387T>A (p.Phe796Tyr) c.2369T>A (p.Phe790Tyr) | |
| 22 | g.50720223T>C | CA515258586 | SHANK3 | c.1991T>C (p.Phe664Ser) n.2575T>C c.1043T>C (p.Phe348Ser) c.533T>C (p.Phe178Ser) c.*989T>C (n.*989T>C) c.2387T>C (p.Phe796Ser) c.2369T>C (p.Phe790Ser) | |
| 22 | g.50720223T>G | CA515258587 | SHANK3 | c.1991T>G (p.Phe664Cys) n.2575T>G c.1043T>G (p.Phe348Cys) c.533T>G (p.Phe178Cys) c.*989T>G (n.*989T>G) c.2387T>G (p.Phe796Cys) c.2369T>G (p.Phe790Cys) | |
| 22 | g.50720224C>A | CA515258589 | SHANK3 | c.1992C>A (p.Phe664Leu) n.2576C>A c.1044C>A (p.Phe348Leu) c.534C>A (p.Phe178Leu) c.*990C>A (n.*990C>A) c.2388C>A (p.Phe796Leu) c.2370C>A (p.Phe790Leu) | gnomAD v4 |
| 22 | g.50720224C= | CA2411007504 | SHANK3 | c.1992C= (p.Phe664=) n.2576C= c.1044C= (p.Phe348=) c.534C= (p.Phe178=) c.*990C= (n.*990C=) c.2388C= (p.Phe796=) c.2370C= (p.Phe790=) | |
| 22 | g.50720224C>G | CA515258591 | SHANK3 | c.1992C>G (p.Phe664Leu) n.2576C>G c.1044C>G (p.Phe348Leu) c.534C>G (p.Phe178Leu) c.*990C>G (n.*990C>G) c.2388C>G (p.Phe796Leu) c.2370C>G (p.Phe790Leu) | dbSNP |
| 22 | g.50720224C>T | CA515258588 | SHANK3 | c.1992C>T (p.Phe664=) n.2576C>T c.1044C>T (p.Phe348=) c.534C>T (p.Phe178=) c.*990C>T (n.*990C>T) c.2388C>T (p.Phe796=) c.2370C>T (p.Phe790=) | dbSNP gnomAD v4 |
| 22 | g.50720225C>A | CA515258592 | SHANK3 | c.1993C>A (p.Pro665Thr) n.2577C>A c.1045C>A (p.Pro349Thr) c.535C>A (p.Pro179Thr) c.*991C>A (n.*991C>A) c.2389C>A (p.Pro797Thr) c.2371C>A (p.Pro791Thr) | gnomAD v4 |
| 22 | g.50720225C= | CA2411007505 | SHANK3 | c.1993C= (p.Pro665=) n.2577C= c.1045C= (p.Pro349=) c.535C= (p.Pro179=) c.*991C= (n.*991C=) c.2389C= (p.Pro797=) c.2371C= (p.Pro791=) | |
| 22 | g.50720225C>G | CA515258593 | SHANK3 | c.1993C>G (p.Pro665Ala) n.2577C>G c.1045C>G (p.Pro349Ala) c.535C>G (p.Pro179Ala) c.*991C>G (n.*991C>G) c.2389C>G (p.Pro797Ala) c.2371C>G (p.Pro791Ala) | gnomAD v4 |
| 22 | g.50720225C>T | CA515258595 | SHANK3 | c.1993C>T (p.Pro665Ser) n.2577C>T c.1045C>T (p.Pro349Ser) c.535C>T (p.Pro179Ser) c.*991C>T (n.*991C>T) c.2389C>T (p.Pro797Ser) c.2371C>T (p.Pro791Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720226C>A | CA515258596 | SHANK3 | c.1994C>A (p.Pro665Gln) n.2578C>A c.1046C>A (p.Pro349Gln) c.536C>A (p.Pro179Gln) c.*992C>A (n.*992C>A) c.2390C>A (p.Pro797Gln) c.2372C>A (p.Pro791Gln) | gnomAD v4 |
| 22 | g.50720226C>G | CA515258597 | SHANK3 | c.1994C>G (p.Pro665Arg) n.2578C>G c.1046C>G (p.Pro349Arg) c.536C>G (p.Pro179Arg) c.*992C>G (n.*992C>G) c.2390C>G (p.Pro797Arg) c.2372C>G (p.Pro791Arg) | |
| 22 | g.50720226C>T | CA515258598 | SHANK3 | c.1994C>T (p.Pro665Leu) n.2578C>T c.1046C>T (p.Pro349Leu) c.536C>T (p.Pro179Leu) c.*992C>T (n.*992C>T) c.2390C>T (p.Pro797Leu) c.2372C>T (p.Pro791Leu) | gnomAD v3 gnomAD v4 |
| 22 | g.50720227G>A | CA515258601 | SHANK3 | c.1995G>A (p.Pro665=) n.2579G>A c.1047G>A (p.Pro349=) c.537G>A (p.Pro179=) c.*993G>A (n.*993G>A) c.2391G>A (p.Pro797=) c.2373G>A (p.Pro791=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720227G>C | CA515258600 | SHANK3 | c.1995G>C (p.Pro665=) n.2579G>C c.1047G>C (p.Pro349=) c.537G>C (p.Pro179=) c.*993G>C (n.*993G>C) c.2391G>C (p.Pro797=) c.2373G>C (p.Pro791=) | |
| 22 | g.50720227G= | CA2411007506 | SHANK3 | c.1995G= (p.Pro665=) n.2579G= c.1047G= (p.Pro349=) c.537G= (p.Pro179=) c.*993G= (n.*993G=) c.2391G= (p.Pro797=) c.2373G= (p.Pro791=) | |
| 22 | g.50720227G>T | CA515258599 | SHANK3 | c.1995G>T (p.Pro665=) n.2579G>T c.1047G>T (p.Pro349=) c.537G>T (p.Pro179=) c.*993G>T (n.*993G>T) c.2391G>T (p.Pro797=) c.2373G>T (p.Pro791=) | gnomAD v4 |
| 22 | g.50720228C>A | CA515258602 | SHANK3 | c.1996C>A (p.Arg666=) n.2580C>A c.1048C>A (p.Arg350=) c.538C>A (p.Arg180=) c.*994C>A (n.*994C>A) c.2392C>A (p.Arg798=) c.2374C>A (p.Arg792=) | dbSNP gnomAD v4 |
| 22 | g.50720228C>G | CA515258603 | SHANK3 | c.1996C>G (p.Arg666Gly) n.2580C>G c.1048C>G (p.Arg350Gly) c.538C>G (p.Arg180Gly) c.*994C>G (n.*994C>G) c.2392C>G (p.Arg798Gly) c.2374C>G (p.Arg792Gly) | |
| 22 | g.50720228C>T | CA515258604 | SHANK3 | c.1996C>T (p.Arg666Trp) n.2580C>T c.1048C>T (p.Arg350Trp) c.538C>T (p.Arg180Trp) c.*994C>T (n.*994C>T) c.2392C>T (p.Arg798Trp) c.2374C>T (p.Arg792Trp) | gnomAD v4 |
| 22 | g.50720229G>A | CA325577979 | SHANK3 | c.1997G>A (p.Arg666Gln) n.2581G>A c.1049G>A (p.Arg350Gln) c.539G>A (p.Arg180Gln) c.*995G>A (n.*995G>A) c.2393G>A (p.Arg798Gln) c.2375G>A (p.Arg792Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720229G>C | CA515258605 | SHANK3 | c.1997G>C (p.Arg666Pro) n.2581G>C c.1049G>C (p.Arg350Pro) c.539G>C (p.Arg180Pro) c.*995G>C (n.*995G>C) c.2393G>C (p.Arg798Pro) c.2375G>C (p.Arg792Pro) | |
| 22 | g.50720229G= | CA2411007507 | SHANK3 | c.1997G= (p.Arg666=) n.2581G= c.1049G= (p.Arg350=) c.539G= (p.Arg180=) c.*995G= (n.*995G=) c.2393G= (p.Arg798=) c.2375G= (p.Arg792=) | |
| 22 | g.50720229G>T | CA515258606 | SHANK3 | c.1997G>T (p.Arg666Leu) n.2581G>T c.1049G>T (p.Arg350Leu) c.539G>T (p.Arg180Leu) c.*995G>T (n.*995G>T) c.2393G>T (p.Arg798Leu) c.2375G>T (p.Arg792Leu) | gnomAD v4 |
| 22 | g.50720230G>A | CA515258607 | SHANK3 | c.1998G>A (p.Arg666=) n.2582G>A c.1050G>A (p.Arg350=) c.540G>A (p.Arg180=) c.*996G>A (n.*996G>A) c.2394G>A (p.Arg798=) c.2376G>A (p.Arg792=) | |
| 22 | g.50720230G>C | CA515258611 | SHANK3 | c.1998G>C (p.Arg666=) n.2582G>C c.1050G>C (p.Arg350=) c.540G>C (p.Arg180=) c.*996G>C (n.*996G>C) c.2394G>C (p.Arg798=) c.2376G>C (p.Arg792=) | gnomAD v4 |
| 22 | g.50720230G>T | CA515258608 | SHANK3 | c.1998G>T (p.Arg666=) n.2582G>T c.1050G>T (p.Arg350=) c.540G>T (p.Arg180=) c.*996G>T (n.*996G>T) c.2394G>T (p.Arg798=) c.2376G>T (p.Arg792=) | gnomAD v4 |
| 22 | g.50720231A= | CA2411007508 | SHANK3 | c.1999A= (p.Ser667=) n.2583A= c.1051A= (p.Ser351=) c.541A= (p.Ser181=) c.*997A= (n.*997A=) c.2395A= (p.Ser799=) c.2377A= (p.Ser793=) | |
| 22 | g.50720231A>C | CA515258613 | SHANK3 | c.1999A>C (p.Ser667Arg) n.2583A>C c.1051A>C (p.Ser351Arg) c.541A>C (p.Ser181Arg) c.*997A>C (n.*997A>C) c.2395A>C (p.Ser799Arg) c.2377A>C (p.Ser793Arg) | |
| 22 | g.50720231A>G | CA515258615 | SHANK3 | c.1999A>G (p.Ser667Gly) n.2583A>G c.1051A>G (p.Ser351Gly) c.541A>G (p.Ser181Gly) c.*997A>G (n.*997A>G) c.2395A>G (p.Ser799Gly) c.2377A>G (p.Ser793Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720231A>T | CA515258616 | SHANK3 | c.1999A>T (p.Ser667Cys) n.2583A>T c.1051A>T (p.Ser351Cys) c.541A>T (p.Ser181Cys) c.*997A>T (n.*997A>T) c.2395A>T (p.Ser799Cys) c.2377A>T (p.Ser793Cys) | |
| 22 | g.50720232G>A | CA515258617 | SHANK3 | c.2000G>A (p.Ser667Asn) n.2584G>A c.1052G>A (p.Ser351Asn) c.542G>A (p.Ser181Asn) c.*998G>A (n.*998G>A) c.2396G>A (p.Ser799Asn) c.2378G>A (p.Ser793Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720232G>C | CA515258618 | SHANK3 | c.2000G>C (p.Ser667Thr) n.2584G>C c.1052G>C (p.Ser351Thr) c.542G>C (p.Ser181Thr) c.*998G>C (n.*998G>C) c.2396G>C (p.Ser799Thr) c.2378G>C (p.Ser793Thr) | |
| 22 | g.50720232G= | CA2411007509 | SHANK3 | c.2000G= (p.Ser667=) n.2584G= c.1052G= (p.Ser351=) c.542G= (p.Ser181=) c.*998G= (n.*998G=) c.2396G= (p.Ser799=) c.2378G= (p.Ser793=) | |
| 22 | g.50720232G>T | CA515258619 | SHANK3 | c.2000G>T (p.Ser667Ile) n.2584G>T c.1052G>T (p.Ser351Ile) c.542G>T (p.Ser181Ile) c.*998G>T (n.*998G>T) c.2396G>T (p.Ser799Ile) c.2378G>T (p.Ser793Ile) | gnomAD v4 |
| 22 | g.50720233C>A | CA515258620 | SHANK3 | c.2001C>A (p.Ser667Arg) n.2585C>A c.1053C>A (p.Ser351Arg) c.543C>A (p.Ser181Arg) c.*999C>A (n.*999C>A) c.2397C>A (p.Ser799Arg) c.2379C>A (p.Ser793Arg) | gnomAD v4 |
| 22 | g.50720233C= | CA2411007510 | SHANK3 | c.2001C= (p.Ser667=) n.2585C= c.1053C= (p.Ser351=) c.543C= (p.Ser181=) c.*999C= (n.*999C=) c.2397C= (p.Ser799=) c.2379C= (p.Ser793=) | |
| 22 | g.50720233C>G | CA515258621 | SHANK3 | c.2001C>G (p.Ser667Arg) n.2585C>G c.1053C>G (p.Ser351Arg) c.543C>G (p.Ser181Arg) c.*999C>G (n.*999C>G) c.2397C>G (p.Ser799Arg) c.2379C>G (p.Ser793Arg) | |
| 22 | g.50720233C>T | CA515258622 | SHANK3 | c.2001C>T (p.Ser667=) n.2585C>T c.1053C>T (p.Ser351=) c.543C>T (p.Ser181=) c.*999C>T (n.*999C>T) c.2397C>T (p.Ser799=) c.2379C>T (p.Ser793=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720234A= | CA2411007511 | SHANK3 | c.2002A= (p.Thr668=) n.2586A= c.1054A= (p.Thr352=) c.544A= (p.Thr182=) c.*1000A= (n.*1000A=) c.2398A= (p.Thr800=) c.2380A= (p.Thr794=) | |
| 22 | g.50720234A>C | CA515258624 | SHANK3 | c.2002A>C (p.Thr668Pro) n.2586A>C c.1054A>C (p.Thr352Pro) c.544A>C (p.Thr182Pro) c.*1000A>C (n.*1000A>C) c.2398A>C (p.Thr800Pro) c.2380A>C (p.Thr794Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720234A>G | CA515258626 | SHANK3 | c.2002A>G (p.Thr668Ala) n.2586A>G c.1054A>G (p.Thr352Ala) c.544A>G (p.Thr182Ala) c.*1000A>G (n.*1000A>G) c.2398A>G (p.Thr800Ala) c.2380A>G (p.Thr794Ala) | gnomAD v4 |
| 22 | g.50720234A>T | CA515258627 | SHANK3 | c.2002A>T (p.Thr668Ser) n.2586A>T c.1054A>T (p.Thr352Ser) c.544A>T (p.Thr182Ser) c.*1000A>T (n.*1000A>T) c.2398A>T (p.Thr800Ser) c.2380A>T (p.Thr794Ser) | |
| 22 | g.50720235C>A | CA515258628 | SHANK3 | c.2003C>A (p.Thr668Asn) n.2587C>A c.1055C>A (p.Thr352Asn) c.545C>A (p.Thr182Asn) c.*1001C>A (n.*1001C>A) c.2399C>A (p.Thr800Asn) c.2381C>A (p.Thr794Asn) | |
| 22 | g.50720235C= | CA2411007512 | SHANK3 | c.2003C= (p.Thr668=) n.2587C= c.1055C= (p.Thr352=) c.545C= (p.Thr182=) c.*1001C= (n.*1001C=) c.2399C= (p.Thr800=) c.2381C= (p.Thr794=) | |
| 22 | g.50720235C>G | CA515258630 | SHANK3 | c.2003C>G (p.Thr668Ser) n.2587C>G c.1055C>G (p.Thr352Ser) c.545C>G (p.Thr182Ser) c.*1001C>G (n.*1001C>G) c.2399C>G (p.Thr800Ser) c.2381C>G (p.Thr794Ser) | |
| 22 | g.50720235C>T | CA515258629 | SHANK3 | c.2003C>T (p.Thr668Ile) n.2587C>T c.1055C>T (p.Thr352Ile) c.545C>T (p.Thr182Ile) c.*1001C>T (n.*1001C>T) c.2399C>T (p.Thr800Ile) c.2381C>T (p.Thr794Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720236C>A | CA10325921 | SHANK3 | c.2004C>A (p.Thr668=) n.2588C>A c.1056C>A (p.Thr352=) c.546C>A (p.Thr182=) c.*1002C>A (n.*1002C>A) c.2400C>A (p.Thr800=) c.2382C>A (p.Thr794=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50720236C= | CA2411007513 | SHANK3 | c.2004C= (p.Thr668=) n.2588C= c.1056C= (p.Thr352=) c.546C= (p.Thr182=) c.*1002C= (n.*1002C=) c.2400C= (p.Thr800=) c.2382C= (p.Thr794=) | |
| 22 | g.50720236C>G | CA515258631 | SHANK3 | c.2004C>G (p.Thr668=) n.2588C>G c.1056C>G (p.Thr352=) c.546C>G (p.Thr182=) c.*1002C>G (n.*1002C>G) c.2400C>G (p.Thr800=) c.2382C>G (p.Thr794=) | gnomAD v4 |
| 22 | g.50720236C>T | CA515258633 | SHANK3 | c.2004C>T (p.Thr668=) n.2588C>T c.1056C>T (p.Thr352=) c.546C>T (p.Thr182=) c.*1002C>T (n.*1002C>T) c.2400C>T (p.Thr800=) c.2382C>T (p.Thr794=) | gnomAD v4 |
| 22 | g.50720237T>A | CA515258634 | SHANK3 | c.2005T>A (p.Ser669Thr) n.2589T>A c.1057T>A (p.Ser353Thr) c.547T>A (p.Ser183Thr) c.*1003T>A (n.*1003T>A) c.2401T>A (p.Ser801Thr) c.2383T>A (p.Ser795Thr) | |
| 22 | g.50720237T>C | CA515258635 | SHANK3 | c.2005T>C (p.Ser669Pro) n.2589T>C c.1057T>C (p.Ser353Pro) c.547T>C (p.Ser183Pro) c.*1003T>C (n.*1003T>C) c.2401T>C (p.Ser801Pro) c.2383T>C (p.Ser795Pro) | |
| 22 | g.50720237T>G | CA515258636 | SHANK3 | c.2005T>G (p.Ser669Ala) n.2589T>G c.1057T>G (p.Ser353Ala) c.547T>G (p.Ser183Ala) c.*1003T>G (n.*1003T>G) c.2401T>G (p.Ser801Ala) c.2383T>G (p.Ser795Ala) | |
| 22 | g.50720238C>A | CA515258638 | SHANK3 | c.2006C>A (p.Ser669Ter) n.2590C>A c.1058C>A (p.Ser353Ter) c.548C>A (p.Ser183Ter) c.*1004C>A (n.*1004C>A) c.2402C>A (p.Ser801Ter) c.2384C>A (p.Ser795Ter) | gnomAD v4 |
| 22 | g.50720238C>G | CA515258642 | SHANK3 | c.2006C>G (p.Ser669Trp) n.2590C>G c.1058C>G (p.Ser353Trp) c.548C>G (p.Ser183Trp) c.*1004C>G (n.*1004C>G) c.2402C>G (p.Ser801Trp) c.2384C>G (p.Ser795Trp) | gnomAD v4 |
| 22 | g.50720238C>T | CA515258643 | SHANK3 | c.2006C>T (p.Ser669Leu) n.2590C>T c.1058C>T (p.Ser353Leu) c.548C>T (p.Ser183Leu) c.*1004C>T (n.*1004C>T) c.2402C>T (p.Ser801Leu) c.2384C>T (p.Ser795Leu) | |
| 22 | g.50720239G>A | CA515258644 | SHANK3 | c.2007G>A (p.Ser669=) n.2591G>A c.1059G>A (p.Ser353=) c.549G>A (p.Ser183=) c.*1005G>A (n.*1005G>A) c.2403G>A (p.Ser801=) c.2385G>A (p.Ser795=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720239G>C | CA515258645 | SHANK3 | c.2007G>C (p.Ser669=) n.2591G>C c.1059G>C (p.Ser353=) c.549G>C (p.Ser183=) c.*1005G>C (n.*1005G>C) c.2403G>C (p.Ser801=) c.2385G>C (p.Ser795=) | gnomAD v4 |
| 22 | g.50720239G= | CA2411007514 | SHANK3 | c.2007G= (p.Ser669=) n.2591G= c.1059G= (p.Ser353=) c.549G= (p.Ser183=) c.*1005G= (n.*1005G=) c.2403G= (p.Ser801=) c.2385G= (p.Ser795=) | |
| 22 | g.50720239G>T | CA515258647 | SHANK3 | c.2007G>T (p.Ser669=) n.2591G>T c.1059G>T (p.Ser353=) c.549G>T (p.Ser183=) c.*1005G>T (n.*1005G>T) c.2403G>T (p.Ser801=) c.2385G>T (p.Ser795=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720240A>C | CA515258653 | SHANK3 | c.2008A>C (p.Met670Leu) n.2592A>C c.1060A>C (p.Met354Leu) c.550A>C (p.Met184Leu) c.*1006A>C (n.*1006A>C) c.2404A>C (p.Met802Leu) c.2386A>C (p.Met796Leu) | |
| 22 | g.50720240A>G | CA515258652 | SHANK3 | c.2008A>G (p.Met670Val) n.2592A>G c.1060A>G (p.Met354Val) c.550A>G (p.Met184Val) c.*1006A>G (n.*1006A>G) c.2404A>G (p.Met802Val) c.2386A>G (p.Met796Val) | gnomAD v4 |
| 22 | g.50720240A>T | CA515258650 | SHANK3 | c.2008A>T (p.Met670Leu) n.2592A>T c.1060A>T (p.Met354Leu) c.550A>T (p.Met184Leu) c.*1006A>T (n.*1006A>T) c.2404A>T (p.Met802Leu) c.2386A>T (p.Met796Leu) | |
| 22 | g.50720241T>A | CA515258655 | SHANK3 | c.2009T>A (p.Met670Lys) n.2593T>A c.1061T>A (p.Met354Lys) c.551T>A (p.Met184Lys) c.*1007T>A (n.*1007T>A) c.2405T>A (p.Met802Lys) c.2387T>A (p.Met796Lys) | |
| 22 | g.50720241T>C | CA515258657 | SHANK3 | c.2009T>C (p.Met670Thr) n.2593T>C c.1061T>C (p.Met354Thr) c.551T>C (p.Met184Thr) c.*1007T>C (n.*1007T>C) c.2405T>C (p.Met802Thr) c.2387T>C (p.Met796Thr) | ClinVar gnomAD v4 |
| 22 | g.50720241T>G | CA515258659 | SHANK3 | c.2009T>G (p.Met670Arg) n.2593T>G c.1061T>G (p.Met354Arg) c.551T>G (p.Met184Arg) c.*1007T>G (n.*1007T>G) c.2405T>G (p.Met802Arg) c.2387T>G (p.Met796Arg) | |
| 22 | g.50720242G>A | CA515258660 | SHANK3 | c.2010G>A (p.Met670Ile) n.2594G>A c.1062G>A (p.Met354Ile) c.552G>A (p.Met184Ile) c.*1008G>A (n.*1008G>A) c.2406G>A (p.Met802Ile) c.2388G>A (p.Met796Ile) | gnomAD v4 |
| 22 | g.50720242G>C | CA515258661 | SHANK3 | c.2010G>C (p.Met670Ile) n.2594G>C c.1062G>C (p.Met354Ile) c.552G>C (p.Met184Ile) c.*1008G>C (n.*1008G>C) c.2406G>C (p.Met802Ile) c.2388G>C (p.Met796Ile) | |
| 22 | g.50720242G>T | CA515258662 | SHANK3 | c.2010G>T (p.Met670Ile) n.2594G>T c.1062G>T (p.Met354Ile) c.552G>T (p.Met184Ile) c.*1008G>T (n.*1008G>T) c.2406G>T (p.Met802Ile) c.2388G>T (p.Met796Ile) | gnomAD v4 |
| 22 | g.50720243C>A | CA515258663 | SHANK3 | c.2011C>A (p.Gln671Lys) n.2595C>A c.1063C>A (p.Gln355Lys) c.553C>A (p.Gln185Lys) c.*1009C>A (n.*1009C>A) c.2407C>A (p.Gln803Lys) c.2389C>A (p.Gln797Lys) | gnomAD v4 |
| 22 | g.50720243C>G | CA515258664 | SHANK3 | c.2011C>G (p.Gln671Glu) n.2595C>G c.1063C>G (p.Gln355Glu) c.553C>G (p.Gln185Glu) c.*1009C>G (n.*1009C>G) c.2407C>G (p.Gln803Glu) c.2389C>G (p.Gln797Glu) | |
| 22 | g.50720243C>T | CA515258665 | SHANK3 | c.2011C>T (p.Gln671Ter) n.2595C>T c.1063C>T (p.Gln355Ter) c.553C>T (p.Gln185Ter) c.*1009C>T (n.*1009C>T) c.2407C>T (p.Gln803Ter) c.2389C>T (p.Gln797Ter) | gnomAD v4 |
| 22 | g.50720244A>C | CA515258667 | SHANK3 | c.2012A>C (p.Gln671Pro) n.2596A>C c.1064A>C (p.Gln355Pro) c.554A>C (p.Gln185Pro) c.*1010A>C (n.*1010A>C) c.2408A>C (p.Gln803Pro) c.2390A>C (p.Gln797Pro) | |
| 22 | g.50720244A>G | CA515258668 | SHANK3 | c.2012A>G (p.Gln671Arg) n.2596A>G c.1064A>G (p.Gln355Arg) c.554A>G (p.Gln185Arg) c.*1010A>G (n.*1010A>G) c.2408A>G (p.Gln803Arg) c.2390A>G (p.Gln797Arg) | gnomAD v4 |
| 22 | g.50720244A>T | CA515258670 | SHANK3 | c.2012A>T (p.Gln671Leu) n.2596A>T c.1064A>T (p.Gln355Leu) c.554A>T (p.Gln185Leu) c.*1010A>T (n.*1010A>T) c.2408A>T (p.Gln803Leu) c.2390A>T (p.Gln797Leu) | dbSNP |
| 22 | g.50720245A>C | CA515258671 | SHANK3 | c.2013A>C (p.Gln671His) n.2597A>C c.1065A>C (p.Gln355His) c.555A>C (p.Gln185His) c.*1011A>C (n.*1011A>C) c.2409A>C (p.Gln803His) c.2391A>C (p.Gln797His) | |
| 22 | g.50720245A>G | CA515258675 | SHANK3 | c.2013A>G (p.Gln671=) n.2597A>G c.1065A>G (p.Gln355=) c.555A>G (p.Gln185=) c.*1011A>G (n.*1011A>G) c.2409A>G (p.Gln803=) c.2391A>G (p.Gln797=) | gnomAD v4 |
| 22 | g.50720245A>T | CA515258673 | SHANK3 | c.2013A>T (p.Gln671His) n.2597A>T c.1065A>T (p.Gln355His) c.555A>T (p.Gln185His) c.*1011A>T (n.*1011A>T) c.2409A>T (p.Gln803His) c.2391A>T (p.Gln797His) | |
| 22 | g.50720246G>A | CA515258676 | SHANK3 | c.2014G>A (p.Asp672Asn) n.2598G>A c.1066G>A (p.Asp356Asn) c.556G>A (p.Asp186Asn) c.*1012G>A (n.*1012G>A) c.2410G>A (p.Asp804Asn) c.2392G>A (p.Asp798Asn) | |
| 22 | g.50720246G>C | CA515258680 | SHANK3 | c.2014G>C (p.Asp672His) n.2598G>C c.1066G>C (p.Asp356His) c.556G>C (p.Asp186His) c.*1012G>C (n.*1012G>C) c.2410G>C (p.Asp804His) c.2392G>C (p.Asp798His) | |
| 22 | g.50720246G= | CA2411007515 | SHANK3 | c.2014G= (p.Asp672=) n.2598G= c.1066G= (p.Asp356=) c.556G= (p.Asp186=) c.*1012G= (n.*1012G=) c.2410G= (p.Asp804=) c.2392G= (p.Asp798=) | |
| 22 | g.50720246G>T | CA515258678 | SHANK3 | c.2014G>T (p.Asp672Tyr) n.2598G>T c.1066G>T (p.Asp356Tyr) c.556G>T (p.Asp186Tyr) c.*1012G>T (n.*1012G>T) c.2410G>T (p.Asp804Tyr) c.2392G>T (p.Asp798Tyr) | dbSNP gnomAD v4 |
| 22 | g.50720247A= | CA2411007516 | SHANK3 | c.2015A= (p.Asp672=) n.2599A= c.1067A= (p.Asp356=) c.557A= (p.Asp186=) c.*1013A= (n.*1013A=) c.2411A= (p.Asp804=) c.2393A= (p.Asp798=) | |
| 22 | g.50720247A>C | CA515258682 | SHANK3 | c.2015A>C (p.Asp672Ala) n.2599A>C c.1067A>C (p.Asp356Ala) c.557A>C (p.Asp186Ala) c.*1013A>C (n.*1013A>C) c.2411A>C (p.Asp804Ala) c.2393A>C (p.Asp798Ala) | dbSNP |
| 22 | g.50720247A>G | CA515258684 | SHANK3 | c.2015A>G (p.Asp672Gly) n.2599A>G c.1067A>G (p.Asp356Gly) c.557A>G (p.Asp186Gly) c.*1013A>G (n.*1013A>G) c.2411A>G (p.Asp804Gly) c.2393A>G (p.Asp798Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720247A>T | CA515258683 | SHANK3 | c.2015A>T (p.Asp672Val) n.2599A>T c.1067A>T (p.Asp356Val) c.557A>T (p.Asp186Val) c.*1013A>T (n.*1013A>T) c.2411A>T (p.Asp804Val) c.2393A>T (p.Asp798Val) | |
| 22 | g.50720248C>A | CA515258685 | SHANK3 | c.2016C>A (p.Asp672Glu) n.2600C>A c.1068C>A (p.Asp356Glu) c.558C>A (p.Asp186Glu) c.*1014C>A (n.*1014C>A) c.2412C>A (p.Asp804Glu) c.2394C>A (p.Asp798Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720248C= | CA2411007517 | SHANK3 | c.2016C= (p.Asp672=) n.2600C= c.1068C= (p.Asp356=) c.558C= (p.Asp186=) c.*1014C= (n.*1014C=) c.2412C= (p.Asp804=) c.2394C= (p.Asp798=) | |
| 22 | g.50720248C>G | CA515258686 | SHANK3 | c.2016C>G (p.Asp672Glu) n.2600C>G c.1068C>G (p.Asp356Glu) c.558C>G (p.Asp186Glu) c.*1014C>G (n.*1014C>G) c.2412C>G (p.Asp804Glu) c.2394C>G (p.Asp798Glu) | |
| 22 | g.50720248C>T | CA515258687 | SHANK3 | c.2016C>T (p.Asp672=) n.2600C>T c.1068C>T (p.Asp356=) c.558C>T (p.Asp186=) c.*1014C>T (n.*1014C>T) c.2412C>T (p.Asp804=) c.2394C>T (p.Asp798=) | dbSNP gnomAD v4 |
| 22 | g.50720249C>A | CA515258688 | SHANK3 | c.2017C>A (p.Pro673Thr) n.2601C>A c.1069C>A (p.Pro357Thr) c.559C>A (p.Pro187Thr) c.*1015C>A (n.*1015C>A) c.2413C>A (p.Pro805Thr) c.2395C>A (p.Pro799Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720249C= | CA2411007518 | SHANK3 | c.2017C= (p.Pro673=) n.2601C= c.1069C= (p.Pro357=) c.559C= (p.Pro187=) c.*1015C= (n.*1015C=) c.2413C= (p.Pro805=) c.2395C= (p.Pro799=) | |
| 22 | g.50720249C>G | CA515258689 | SHANK3 | c.2017C>G (p.Pro673Ala) n.2601C>G c.1069C>G (p.Pro357Ala) c.559C>G (p.Pro187Ala) c.*1015C>G (n.*1015C>G) c.2413C>G (p.Pro805Ala) c.2395C>G (p.Pro799Ala) | |
| 22 | g.50720249C>T | CA515258690 | SHANK3 | c.2017C>T (p.Pro673Ser) n.2601C>T c.1069C>T (p.Pro357Ser) c.559C>T (p.Pro187Ser) c.*1015C>T (n.*1015C>T) c.2413C>T (p.Pro805Ser) c.2395C>T (p.Pro799Ser) | dbSNP gnomAD v4 |
| 22 | g.50720250C>A | CA515258691 | SHANK3 | c.2018C>A (p.Pro673Gln) n.2602C>A c.1070C>A (p.Pro357Gln) c.560C>A (p.Pro187Gln) c.*1016C>A (n.*1016C>A) c.2414C>A (p.Pro805Gln) c.2396C>A (p.Pro799Gln) | gnomAD v4 |
| 22 | g.50720250C>G | CA515258692 | SHANK3 | c.2018C>G (p.Pro673Arg) n.2602C>G c.1070C>G (p.Pro357Arg) c.560C>G (p.Pro187Arg) c.*1016C>G (n.*1016C>G) c.2414C>G (p.Pro805Arg) c.2396C>G (p.Pro799Arg) | gnomAD v4 |
| 22 | g.50720250C>T | CA515258693 | SHANK3 | c.2018C>T (p.Pro673Leu) n.2602C>T c.1070C>T (p.Pro357Leu) c.560C>T (p.Pro187Leu) c.*1016C>T (n.*1016C>T) c.2414C>T (p.Pro805Leu) c.2396C>T (p.Pro799Leu) | gnomAD v4 |
| 22 | g.50720251G>A | CA325577982 | SHANK3 | c.2019G>A (p.Pro673=) n.2603G>A c.1071G>A (p.Pro357=) c.561G>A (p.Pro187=) c.*1017G>A (n.*1017G>A) c.2415G>A (p.Pro805=) c.2397G>A (p.Pro799=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720251G>C | CA515258695 | SHANK3 | c.2019G>C (p.Pro673=) n.2603G>C c.1071G>C (p.Pro357=) c.561G>C (p.Pro187=) c.*1017G>C (n.*1017G>C) c.2415G>C (p.Pro805=) c.2397G>C (p.Pro799=) | |
| 22 | g.50720251G= | CA2411007519 | SHANK3 | c.2019G= (p.Pro673=) n.2603G= c.1071G= (p.Pro357=) c.561G= (p.Pro187=) c.*1017G= (n.*1017G=) c.2415G= (p.Pro805=) c.2397G= (p.Pro799=) | |
| 22 | g.50720251G>T | CA515258696 | SHANK3 | c.2019G>T (p.Pro673=) n.2603G>T c.1071G>T (p.Pro357=) c.561G>T (p.Pro187=) c.*1017G>T (n.*1017G>T) c.2415G>T (p.Pro805=) c.2397G>T (p.Pro799=) | dbSNP gnomAD v4 |
| 22 | g.50720252G>A | CA515258698 | SHANK3 | c.2020G>A (p.Val674Met) n.2604G>A c.1072G>A (p.Val358Met) c.562G>A (p.Val188Met) c.*1018G>A (n.*1018G>A) c.2416G>A (p.Val806Met) c.2398G>A (p.Val800Met) | gnomAD v4 |
| 22 | g.50720252G>C | CA515258700 | SHANK3 | c.2020G>C (p.Val674Leu) n.2604G>C c.1072G>C (p.Val358Leu) c.562G>C (p.Val188Leu) c.*1018G>C (n.*1018G>C) c.2416G>C (p.Val806Leu) c.2398G>C (p.Val800Leu) | |
| 22 | g.50720252G>T | CA515258699 | SHANK3 | c.2020G>T (p.Val674Leu) n.2604G>T c.1072G>T (p.Val358Leu) c.562G>T (p.Val188Leu) c.*1018G>T (n.*1018G>T) c.2416G>T (p.Val806Leu) c.2398G>T (p.Val800Leu) | gnomAD v4 |
| 22 | g.50720253T>A | CA515258701 | SHANK3 | c.2021T>A (p.Val674Glu) n.2605T>A c.1073T>A (p.Val358Glu) c.563T>A (p.Val188Glu) c.*1019T>A (n.*1019T>A) c.2417T>A (p.Val806Glu) c.2399T>A (p.Val800Glu) | |
| 22 | g.50720253T>C | CA325577990 | SHANK3 | c.2021T>C (p.Val674Ala) n.2605T>C c.1073T>C (p.Val358Ala) c.563T>C (p.Val188Ala) c.*1019T>C (n.*1019T>C) c.2417T>C (p.Val806Ala) c.2399T>C (p.Val800Ala) | dbSNP |
| 22 | g.50720253T>G | CA515258702 | SHANK3 | c.2021T>G (p.Val674Gly) n.2605T>G c.1073T>G (p.Val358Gly) c.563T>G (p.Val188Gly) c.*1019T>G (n.*1019T>G) c.2417T>G (p.Val806Gly) c.2399T>G (p.Val800Gly) | |
| 22 | g.50720253T= | CA2411007520 | SHANK3 | c.2021T= (p.Val674=) n.2605T= c.1073T= (p.Val358=) c.563T= (p.Val188=) c.*1019T= (n.*1019T=) c.2417T= (p.Val806=) c.2399T= (p.Val800=) | |
| 22 | g.50720254G>A | CA515258704 | SHANK3 | c.2022G>A (p.Val674=) n.2606G>A c.1074G>A (p.Val358=) c.564G>A (p.Val188=) c.*1020G>A (n.*1020G>A) c.2418G>A (p.Val806=) c.2400G>A (p.Val800=) | dbSNP gnomAD v4 |
| 22 | g.50720254G>C | CA515258705 | SHANK3 | c.2022G>C (p.Val674=) n.2606G>C c.1074G>C (p.Val358=) c.564G>C (p.Val188=) c.*1020G>C (n.*1020G>C) c.2418G>C (p.Val806=) c.2400G>C (p.Val800=) | |
| 22 | g.50720254G= | CA2411007521 | SHANK3 | c.2022G= (p.Val674=) n.2606G= c.1074G= (p.Val358=) c.564G= (p.Val188=) c.*1020G= (n.*1020G=) c.2418G= (p.Val806=) c.2400G= (p.Val800=) | |
| 22 | g.50720254G>T | CA515258706 | SHANK3 | c.2022G>T (p.Val674=) n.2606G>T c.1074G>T (p.Val358=) c.564G>T (p.Val188=) c.*1020G>T (n.*1020G>T) c.2418G>T (p.Val806=) c.2400G>T (p.Val800=) | gnomAD v4 |
| 22 | g.50720255C>A | CA515258707 | SHANK3 | c.2023C>A (p.Arg675Ser) n.2607C>A c.1075C>A (p.Arg359Ser) c.565C>A (p.Arg189Ser) c.*1021C>A (n.*1021C>A) c.2419C>A (p.Arg807Ser) c.2401C>A (p.Arg801Ser) | gnomAD v4 |
| 22 | g.50720255C>G | CA515258708 | SHANK3 | c.2023C>G (p.Arg675Gly) n.2607C>G c.1075C>G (p.Arg359Gly) c.565C>G (p.Arg189Gly) c.*1021C>G (n.*1021C>G) c.2419C>G (p.Arg807Gly) c.2401C>G (p.Arg801Gly) | |
| 22 | g.50720255C>T | CA515258709 | SHANK3 | c.2023C>T (p.Arg675Cys) n.2607C>T c.1075C>T (p.Arg359Cys) c.565C>T (p.Arg189Cys) c.*1021C>T (n.*1021C>T) c.2419C>T (p.Arg807Cys) c.2401C>T (p.Arg801Cys) | gnomAD v4 |
| 22 | g.50720256G>A | CA515258712 | SHANK3 | c.2024G>A (p.Arg675His) n.2608G>A c.1076G>A (p.Arg359His) c.566G>A (p.Arg189His) c.*1022G>A (n.*1022G>A) c.2420G>A (p.Arg807His) c.2402G>A (p.Arg801His) | gnomAD v4 |
| 22 | g.50720256G>C | CA515258711 | SHANK3 | c.2024G>C (p.Arg675Pro) n.2608G>C c.1076G>C (p.Arg359Pro) c.566G>C (p.Arg189Pro) c.*1022G>C (n.*1022G>C) c.2420G>C (p.Arg807Pro) c.2402G>C (p.Arg801Pro) | ClinVar dbSNP |
| 22 | g.50720256G= | CA2411007522 | SHANK3 | c.2024G= (p.Arg675=) n.2608G= c.1076G= (p.Arg359=) c.566G= (p.Arg189=) c.*1022G= (n.*1022G=) c.2420G= (p.Arg807=) c.2402G= (p.Arg801=) | |
| 22 | g.50720256G>T | CA515258710 | SHANK3 | c.2024G>T (p.Arg675Leu) n.2608G>T c.1076G>T (p.Arg359Leu) c.566G>T (p.Arg189Leu) c.*1022G>T (n.*1022G>T) c.2420G>T (p.Arg807Leu) c.2402G>T (p.Arg801Leu) | gnomAD v4 |
| 22 | g.50720257C>A | CA515258713 | SHANK3 | c.2025C>A (p.Arg675=) n.2609C>A c.1077C>A (p.Arg359=) c.567C>A (p.Arg189=) c.*1023C>A (n.*1023C>A) c.2421C>A (p.Arg807=) c.2403C>A (p.Arg801=) | gnomAD v4 |
| 22 | g.50720257C= | CA2411007523 | SHANK3 | c.2025C= (p.Arg675=) n.2609C= c.1077C= (p.Arg359=) c.567C= (p.Arg189=) c.*1023C= (n.*1023C=) c.2421C= (p.Arg807=) c.2403C= (p.Arg801=) | |
| 22 | g.50720257C>G | CA515258714 | SHANK3 | c.2025C>G (p.Arg675=) n.2609C>G c.1077C>G (p.Arg359=) c.567C>G (p.Arg189=) c.*1023C>G (n.*1023C>G) c.2421C>G (p.Arg807=) c.2403C>G (p.Arg801=) | |
| 22 | g.50720257C>T | CA515258715 | SHANK3 | c.2025C>T (p.Arg675=) n.2609C>T c.1077C>T (p.Arg359=) c.567C>T (p.Arg189=) c.*1023C>T (n.*1023C>T) c.2421C>T (p.Arg807=) c.2403C>T (p.Arg801=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720258G>A | CA515258716 | SHANK3 | c.2026G>A (p.Glu676Lys) n.2610G>A c.1078G>A (p.Glu360Lys) c.568G>A (p.Glu190Lys) c.*1024G>A (n.*1024G>A) c.2422G>A (p.Glu808Lys) c.2404G>A (p.Glu802Lys) | dbSNP |
| 22 | g.50720258G>C | CA515258717 | SHANK3 | c.2026G>C (p.Glu676Gln) n.2610G>C c.1078G>C (p.Glu360Gln) c.568G>C (p.Glu190Gln) c.*1024G>C (n.*1024G>C) c.2422G>C (p.Glu808Gln) c.2404G>C (p.Glu802Gln) | |
| 22 | g.50720258G>T | CA515258718 | SHANK3 | c.2026G>T (p.Glu676Ter) n.2610G>T c.1078G>T (p.Glu360Ter) c.568G>T (p.Glu190Ter) c.*1024G>T (n.*1024G>T) c.2422G>T (p.Glu808Ter) c.2404G>T (p.Glu802Ter) | gnomAD v4 |
| 22 | g.50720258_50720268del | CA2657582724 | SHANK3 | c.2026_2036del (p.Glu676HisfsTer?) n.2610_2620del c.1078_1088del (p.Glu360HisfsTer?) c.568_578del (p.Glu190HisfsTer?) c.*1024_*1034del (n.*1024_*1034del) c.2422_2432del (p.Glu808HisfsTer?) c.2404_2414del (p.Glu802HisfsTer?) | gnomAD v4 |
| 22 | g.50720259A>C | CA515258721 | SHANK3 | c.2027A>C (p.Glu676Ala) n.2611A>C c.1079A>C (p.Glu360Ala) c.569A>C (p.Glu190Ala) c.*1025A>C (n.*1025A>C) c.2423A>C (p.Glu808Ala) c.2405A>C (p.Glu802Ala) | |
| 22 | g.50720259A>G | CA515258724 | SHANK3 | c.2027A>G (p.Glu676Gly) n.2611A>G c.1079A>G (p.Glu360Gly) c.569A>G (p.Glu190Gly) c.*1025A>G (n.*1025A>G) c.2423A>G (p.Glu808Gly) c.2405A>G (p.Glu802Gly) | gnomAD v4 |
| 22 | g.50720259A>T | CA515258726 | SHANK3 | c.2027A>T (p.Glu676Val) n.2611A>T c.1079A>T (p.Glu360Val) c.569A>T (p.Glu190Val) c.*1025A>T (n.*1025A>T) c.2423A>T (p.Glu808Val) c.2405A>T (p.Glu802Val) | |
| 22 | g.50720260G>A | CA515258728 | SHANK3 | c.2028G>A (p.Glu676=) n.2612G>A c.1080G>A (p.Glu360=) c.570G>A (p.Glu190=) c.*1026G>A (n.*1026G>A) c.2424G>A (p.Glu808=) c.2406G>A (p.Glu802=) | gnomAD v4 |
| 22 | g.50720260G>C | CA515258729 | SHANK3 | c.2028G>C (p.Glu676Asp) n.2612G>C c.1080G>C (p.Glu360Asp) c.570G>C (p.Glu190Asp) c.*1026G>C (n.*1026G>C) c.2424G>C (p.Glu808Asp) c.2406G>C (p.Glu802Asp) | ClinVar gnomAD v4 |
| 22 | g.50720260G>T | CA515258730 | SHANK3 | c.2028G>T (p.Glu676Asp) n.2612G>T c.1080G>T (p.Glu360Asp) c.570G>T (p.Glu190Asp) c.*1026G>T (n.*1026G>T) c.2424G>T (p.Glu808Asp) c.2406G>T (p.Glu802Asp) | gnomAD v4 |
| 22 | g.50720262del | CA2657582733 | SHANK3 | c.2030del (p.Gly677ValfsTer?) n.2614del c.1082del (p.Gly361ValfsTer?) c.572del (p.Gly191ValfsTer?) c.*1028del (n.*1028del) c.2426del (p.Gly809ValfsTer?) c.2408del (p.Gly803ValfsTer?) | gnomAD v4 |
| 22 | g.50720261G>A | CA515258734 | SHANK3 | c.2029G>A (p.Gly677Ser) n.2613G>A c.1081G>A (p.Gly361Ser) c.571G>A (p.Gly191Ser) c.*1027G>A (n.*1027G>A) c.2425G>A (p.Gly809Ser) c.2407G>A (p.Gly803Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720261G>C | CA515258731 | SHANK3 | c.2029G>C (p.Gly677Arg) n.2613G>C c.1081G>C (p.Gly361Arg) c.571G>C (p.Gly191Arg) c.*1027G>C (n.*1027G>C) c.2425G>C (p.Gly809Arg) c.2407G>C (p.Gly803Arg) | |
| 22 | g.50720261G= | CA2411007524 | SHANK3 | c.2029G= (p.Gly677=) n.2613G= c.1081G= (p.Gly361=) c.571G= (p.Gly191=) c.*1027G= (n.*1027G=) c.2425G= (p.Gly809=) c.2407G= (p.Gly803=) | |
| 22 | g.50720261G>T | CA515258732 | SHANK3 | c.2029G>T (p.Gly677Cys) n.2613G>T c.1081G>T (p.Gly361Cys) c.571G>T (p.Gly191Cys) c.*1027G>T (n.*1027G>T) c.2425G>T (p.Gly809Cys) c.2407G>T (p.Gly803Cys) | dbSNP gnomAD v4 |
| 22 | g.50720262G>A | CA515258735 | SHANK3 | c.2030G>A (p.Gly677Asp) n.2614G>A c.1082G>A (p.Gly361Asp) c.572G>A (p.Gly191Asp) c.*1028G>A (n.*1028G>A) c.2426G>A (p.Gly809Asp) c.2408G>A (p.Gly803Asp) | gnomAD v4 |
| 22 | g.50720262G>C | CA515258736 | SHANK3 | c.2030G>C (p.Gly677Ala) n.2614G>C c.1082G>C (p.Gly361Ala) c.572G>C (p.Gly191Ala) c.*1028G>C (n.*1028G>C) c.2426G>C (p.Gly809Ala) c.2408G>C (p.Gly803Ala) | |
| 22 | g.50720262G>T | CA515258737 | SHANK3 | c.2030G>T (p.Gly677Val) n.2614G>T c.1082G>T (p.Gly361Val) c.572G>T (p.Gly191Val) c.*1028G>T (n.*1028G>T) c.2426G>T (p.Gly809Val) c.2408G>T (p.Gly803Val) | |
| 22 | g.50720263T>A | CA515258738 | SHANK3 | c.2031T>A (p.Gly677=) n.2615T>A c.1083T>A (p.Gly361=) c.573T>A (p.Gly191=) c.*1029T>A (n.*1029T>A) c.2427T>A (p.Gly809=) c.2409T>A (p.Gly803=) | gnomAD v4 |
| 22 | g.50720263T>C | CA515258739 | SHANK3 | c.2031T>C (p.Gly677=) n.2615T>C c.1083T>C (p.Gly361=) c.573T>C (p.Gly191=) c.*1029T>C (n.*1029T>C) c.2427T>C (p.Gly809=) c.2409T>C (p.Gly803=) | gnomAD v4 |
| 22 | g.50720263T>G | CA515258740 | SHANK3 | c.2031T>G (p.Gly677=) n.2615T>G c.1083T>G (p.Gly361=) c.573T>G (p.Gly191=) c.*1029T>G (n.*1029T>G) c.2427T>G (p.Gly809=) c.2409T>G (p.Gly803=) | |
| 22 | g.50720264C>A | CA515258741 | SHANK3 | c.2032C>A (p.Arg678Ser) n.2616C>A c.1084C>A (p.Arg362Ser) c.574C>A (p.Arg192Ser) c.*1030C>A (n.*1030C>A) c.2428C>A (p.Arg810Ser) c.2410C>A (p.Arg804Ser) | gnomAD v4 |
| 22 | g.50720264C= | CA2411007525 | SHANK3 | c.2032C= (p.Arg678=) n.2616C= c.1084C= (p.Arg362=) c.574C= (p.Arg192=) c.*1030C= (n.*1030C=) c.2428C= (p.Arg810=) c.2410C= (p.Arg804=) | |
| 22 | g.50720264C>G | CA325577994 | SHANK3 | c.2032C>G (p.Arg678Gly) n.2616C>G c.1084C>G (p.Arg362Gly) c.574C>G (p.Arg192Gly) c.*1030C>G (n.*1030C>G) c.2428C>G (p.Arg810Gly) c.2410C>G (p.Arg804Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720264C>T | CA515258742 | SHANK3 | c.2032C>T (p.Arg678Cys) n.2616C>T c.1084C>T (p.Arg362Cys) c.574C>T (p.Arg192Cys) c.*1030C>T (n.*1030C>T) c.2428C>T (p.Arg810Cys) c.2410C>T (p.Arg804Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720265G>A | CA515258743 | SHANK3 | c.2033G>A (p.Arg678His) n.2617G>A c.1085G>A (p.Arg362His) c.575G>A (p.Arg192His) c.*1031G>A (n.*1031G>A) c.2429G>A (p.Arg810His) c.2411G>A (p.Arg804His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720265G>C | CA515258744 | SHANK3 | c.2033G>C (p.Arg678Pro) n.2617G>C c.1085G>C (p.Arg362Pro) c.575G>C (p.Arg192Pro) c.*1031G>C (n.*1031G>C) c.2429G>C (p.Arg810Pro) c.2411G>C (p.Arg804Pro) | |
| 22 | g.50720265G= | CA2411007526 | SHANK3 | c.2033G= (p.Arg678=) n.2617G= c.1085G= (p.Arg362=) c.575G= (p.Arg192=) c.*1031G= (n.*1031G=) c.2429G= (p.Arg810=) c.2411G= (p.Arg804=) | |
| 22 | g.50720265G>T | CA515258745 | SHANK3 | c.2033G>T (p.Arg678Leu) n.2617G>T c.1085G>T (p.Arg362Leu) c.575G>T (p.Arg192Leu) c.*1031G>T (n.*1031G>T) c.2429G>T (p.Arg810Leu) c.2411G>T (p.Arg804Leu) | gnomAD v4 |
| 22 | g.50720266C>A | CA515258747 | SHANK3 | c.2034C>A (p.Arg678=) n.2618C>A c.1086C>A (p.Arg362=) c.576C>A (p.Arg192=) c.*1032C>A (n.*1032C>A) c.2430C>A (p.Arg810=) c.2412C>A (p.Arg804=) | gnomAD v4 |
| 22 | g.50720266C= | CA2411007527 | SHANK3 | c.2034C= (p.Arg678=) n.2618C= c.1086C= (p.Arg362=) c.576C= (p.Arg192=) c.*1032C= (n.*1032C=) c.2430C= (p.Arg810=) c.2412C= (p.Arg804=) | |
| 22 | g.50720266C>G | CA515258749 | SHANK3 | c.2034C>G (p.Arg678=) n.2618C>G c.1086C>G (p.Arg362=) c.576C>G (p.Arg192=) c.*1032C>G (n.*1032C>G) c.2430C>G (p.Arg810=) c.2412C>G (p.Arg804=) | gnomAD v4 |
| 22 | g.50720266C>T | CA515258746 | SHANK3 | c.2034C>T (p.Arg678=) n.2618C>T c.1086C>T (p.Arg362=) c.576C>T (p.Arg192=) c.*1032C>T (n.*1032C>T) c.2430C>T (p.Arg810=) c.2412C>T (p.Arg804=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720267G>A | CA515258750 | SHANK3 | c.2035G>A (p.Gly679Ser) n.2619G>A c.1087G>A (p.Gly363Ser) c.577G>A (p.Gly193Ser) c.*1033G>A (n.*1033G>A) c.2431G>A (p.Gly811Ser) c.2413G>A (p.Gly805Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720267G>C | CA515258752 | SHANK3 | c.2035G>C (p.Gly679Arg) n.2619G>C c.1087G>C (p.Gly363Arg) c.577G>C (p.Gly193Arg) c.*1033G>C (n.*1033G>C) c.2431G>C (p.Gly811Arg) c.2413G>C (p.Gly805Arg) | dbSNP |
| 22 | g.50720267G= | CA2411007528 | SHANK3 | c.2035G= (p.Gly679=) n.2619G= c.1087G= (p.Gly363=) c.577G= (p.Gly193=) c.*1033G= (n.*1033G=) c.2431G= (p.Gly811=) c.2413G= (p.Gly805=) | |
| 22 | g.50720267G>T | CA515258753 | SHANK3 | c.2035G>T (p.Gly679Cys) n.2619G>T c.1087G>T (p.Gly363Cys) c.577G>T (p.Gly193Cys) c.*1033G>T (n.*1033G>T) c.2431G>T (p.Gly811Cys) c.2413G>T (p.Gly805Cys) | gnomAD v4 |
| 22 | g.50720268G>A | CA515258754 | SHANK3 | c.2036G>A (p.Gly679Asp) n.2620G>A c.1088G>A (p.Gly363Asp) c.578G>A (p.Gly193Asp) c.*1034G>A (n.*1034G>A) c.2432G>A (p.Gly811Asp) c.2414G>A (p.Gly805Asp) | gnomAD v4 |
| 22 | g.50720268G>C | CA515258755 | SHANK3 | c.2036G>C (p.Gly679Ala) n.2620G>C c.1088G>C (p.Gly363Ala) c.578G>C (p.Gly193Ala) c.*1034G>C (n.*1034G>C) c.2432G>C (p.Gly811Ala) c.2414G>C (p.Gly805Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720268G= | CA2411007529 | SHANK3 | c.2036G= (p.Gly679=) n.2620G= c.1088G= (p.Gly363=) c.578G= (p.Gly193=) c.*1034G= (n.*1034G=) c.2432G= (p.Gly811=) c.2414G= (p.Gly805=) | |
| 22 | g.50720268G>T | CA515258756 | SHANK3 | c.2036G>T (p.Gly679Val) n.2620G>T c.1088G>T (p.Gly363Val) c.578G>T (p.Gly193Val) c.*1034G>T (n.*1034G>T) c.2432G>T (p.Gly811Val) c.2414G>T (p.Gly805Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720269C>A | CA515258759 | SHANK3 | c.2037C>A (p.Gly679=) n.2621C>A c.1089C>A (p.Gly363=) c.579C>A (p.Gly193=) c.*1035C>A (n.*1035C>A) c.2433C>A (p.Gly811=) c.2415C>A (p.Gly805=) | dbSNP gnomAD v4 |
| 22 | g.50720269C>G | CA515258757 | SHANK3 | c.2037C>G (p.Gly679=) n.2621C>G c.1089C>G (p.Gly363=) c.579C>G (p.Gly193=) c.*1035C>G (n.*1035C>G) c.2433C>G (p.Gly811=) c.2415C>G (p.Gly805=) | |
| 22 | g.50720269C>T | CA515258758 | SHANK3 | c.2037C>T (p.Gly679=) n.2621C>T c.1089C>T (p.Gly363=) c.579C>T (p.Gly193=) c.*1035C>T (n.*1035C>T) c.2433C>T (p.Gly811=) c.2415C>T (p.Gly805=) | gnomAD v4 |
| 22 | g.50720270A>C | CA515258760 | SHANK3 | c.2038A>C (p.Ile680Leu) n.2622A>C c.1090A>C (p.Ile364Leu) c.580A>C (p.Ile194Leu) c.*1036A>C (n.*1036A>C) c.2434A>C (p.Ile812Leu) c.2416A>C (p.Ile806Leu) | gnomAD v4 |
| 22 | g.50720270A>G | CA515258761 | SHANK3 | c.2038A>G (p.Ile680Val) n.2622A>G c.1090A>G (p.Ile364Val) c.580A>G (p.Ile194Val) c.*1036A>G (n.*1036A>G) c.2434A>G (p.Ile812Val) c.2416A>G (p.Ile806Val) | gnomAD v4 |
| 22 | g.50720270A>T | CA515258762 | SHANK3 | c.2038A>T (p.Ile680Phe) n.2622A>T c.1090A>T (p.Ile364Phe) c.580A>T (p.Ile194Phe) c.*1036A>T (n.*1036A>T) c.2434A>T (p.Ile812Phe) c.2416A>T (p.Ile806Phe) | |
| 22 | g.50720271T>A | CA515258763 | SHANK3 | c.2039T>A (p.Ile680Asn) n.2623T>A c.1091T>A (p.Ile364Asn) c.581T>A (p.Ile194Asn) c.*1037T>A (n.*1037T>A) c.2435T>A (p.Ile812Asn) c.2417T>A (p.Ile806Asn) | |
| 22 | g.50720271T>C | CA325578001 | SHANK3 | c.2039T>C (p.Ile680Thr) n.2623T>C c.1091T>C (p.Ile364Thr) c.581T>C (p.Ile194Thr) c.*1037T>C (n.*1037T>C) c.2435T>C (p.Ile812Thr) c.2417T>C (p.Ile806Thr) | dbSNP gnomAD v4 |
| 22 | g.50720271T>G | CA515258765 | SHANK3 | c.2039T>G (p.Ile680Ser) n.2623T>G c.1091T>G (p.Ile364Ser) c.581T>G (p.Ile194Ser) c.*1037T>G (n.*1037T>G) c.2435T>G (p.Ile812Ser) c.2417T>G (p.Ile806Ser) | |
| 22 | g.50720271T= | CA2411007530 | SHANK3 | c.2039T= (p.Ile680=) n.2623T= c.1091T= (p.Ile364=) c.581T= (p.Ile194=) c.*1037T= (n.*1037T=) c.2435T= (p.Ile812=) c.2417T= (p.Ile806=) | |
| 22 | g.50720271_50720272insG | CA2738228115 | SHANK3 | c.2039_2040insG (p.Ile680MetfsTer?) n.2623_2624insG c.1091_1092insG (p.Ile364MetfsTer?) c.581_582insG (p.Ile194MetfsTer?) c.*1037_*1038insG (n.*1037_*1038insG) c.2435_2436insG (p.Ile812MetfsTer?) c.2417_2418insG (p.Ile806MetfsTer?) | dbSNP |
| 22 | g.50720271_50720272insAC | CA2738228131 | SHANK3 | c.2039_2040insAC (p.Pro682ArgfsTer?) n.2623_2624insAC c.1091_1092insAC (p.Pro366ArgfsTer?) c.581_582insAC (p.Pro196ArgfsTer?) c.*1037_*1038insAC (n.*1037_*1038insAC) c.2435_2436insAC (p.Pro814ArgfsTer?) c.2417_2418insAC (p.Pro808ArgfsTer?) | dbSNP |
| 22 | g.50720271_50720272insGC | CA2497030043 | SHANK3 | c.2039_2040insGC (p.Ile680MetfsTer?) n.2623_2624insGC c.1091_1092insGC (p.Ile364MetfsTer?) c.581_582insGC (p.Ile194MetfsTer?) c.*1037_*1038insGC (n.*1037_*1038insGC) c.2435_2436insGC (p.Ile812MetfsTer?) c.2417_2418insGC (p.Ile806MetfsTer?) | dbSNP |
| 22 | g.50720271_50720272insGCC | CA2499306964 | SHANK3 | c.2039_2040insGCC (p.Ile680delinsMetPro) n.2623_2624insGCC c.1091_1092insGCC (p.Ile364delinsMetPro) c.581_582insGCC (p.Ile194delinsMetPro) c.*1037_*1038insGCC (n.*1037_*1038insGCC) c.2435_2436insGCC (p.Ile812delinsMetPro) c.2417_2418insGCC (p.Ile806delinsMetPro) | dbSNP |
| 22 | g.50720271_50720272insGCCC | CA2738228082 | SHANK3 | c.2039_2040insGCCC (p.Ile680MetfsTer?) n.2623_2624insGCCC c.1091_1092insGCCC (p.Ile364MetfsTer?) c.581_582insGCCC (p.Ile194MetfsTer?) c.*1037_*1038insGCCC (n.*1037_*1038insGCCC) c.2435_2436insGCCC (p.Ile812MetfsTer?) c.2417_2418insGCCC (p.Ile806MetfsTer?) | dbSNP |
| 22 | g.50720271_50720272insGCCCC | CA923726295 | SHANK3 | c.2039_2040insGCCCC (p.Ile680MetfsTer?) n.2623_2624insGCCCC c.1091_1092insGCCCC (p.Ile364MetfsTer?) c.581_582insGCCCC (p.Ile194MetfsTer?) c.*1037_*1038insGCCCC (n.*1037_*1038insGCCCC) c.2435_2436insGCCCC (p.Ile812MetfsTer?) c.2417_2418insGCCCC (p.Ile806MetfsTer?) | |
| 22 | g.50720271_50720272insGCCCCC | CA2573320248 | SHANK3 | c.2039_2040insGCCCCC (p.Ile680delinsMetProPro) n.2623_2624insGCCCCC c.1091_1092insGCCCCC (p.Ile364delinsMetProPro) c.581_582insGCCCCC (p.Ile194delinsMetProPro) c.*1037_*1038insGCCCCC (n.*1037_*1038insGCCCCC) c.2435_2436insGCCCCC (p.Ile812delinsMetProPro) c.2417_2418insGCCCCC (p.Ile806delinsMetProPro) | |
| 22 | g.50720272C>A | CA515258766 | SHANK3 | c.2040C>A (p.Ile680=) n.2624C>A c.1092C>A (p.Ile364=) c.582C>A (p.Ile194=) c.*1038C>A (n.*1038C>A) c.2436C>A (p.Ile812=) c.2418C>A (p.Ile806=) | dbSNP gnomAD v4 |
| 22 | g.50720272C= | CA2411007531 | SHANK3 | c.2040C= (p.Ile680=) n.2624C= c.1092C= (p.Ile364=) c.582C= (p.Ile194=) c.*1038C= (n.*1038C=) c.2436C= (p.Ile812=) c.2418C= (p.Ile806=) | |
| 22 | g.50720272C>G | CA515258768 | SHANK3 | c.2040C>G (p.Ile680Met) n.2624C>G c.1092C>G (p.Ile364Met) c.582C>G (p.Ile194Met) c.*1038C>G (n.*1038C>G) c.2436C>G (p.Ile812Met) c.2418C>G (p.Ile806Met) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720272C>T | CA515258767 | SHANK3 | c.2040C>T (p.Ile680=) n.2624C>T c.1092C>T (p.Ile364=) c.582C>T (p.Ile194=) c.*1038C>T (n.*1038C>T) c.2436C>T (p.Ile812=) c.2418C>T (p.Ile806=) | gnomAD v4 |
| 22 | g.50720272_50720274del | CA2573105958 | SHANK3 | c.2040_2042del (p.Ile680_Pro681delinsMet) n.2624_2626del c.1092_1094del (p.Ile364_Pro365delinsMet) c.582_584del (p.Ile194_Pro195delinsMet) c.*1038_*1040del (n.*1038_*1040del) c.2436_2438del (p.Ile812_Pro813delinsMet) c.2418_2420del (p.Ile806_Pro807delinsMet) | dbSNP |
| 22 | g.50720273_50720274dup | CA2819315339 | SHANK3 | c.2041_2042dup (p.Pro682ArgfsTer?) n.2625_2626dup c.1093_1094dup (p.Pro366ArgfsTer?) c.583_584dup (p.Pro196ArgfsTer?) c.*1039_*1040dup (n.*1039_*1040dup) c.2437_2438dup (p.Pro814ArgfsTer?) c.2419_2420dup (p.Pro808ArgfsTer?) | |
| 22 | g.50720274del | CA2657582770 | SHANK3 | c.2042del (p.Pro681ArgfsTer?) n.2626del c.1094del (p.Pro365ArgfsTer?) c.584del (p.Pro195ArgfsTer?) c.*1040del (n.*1040del) c.2438del (p.Pro813ArgfsTer?) c.2420del (p.Pro807ArgfsTer?) | gnomAD v4 |
| 22 | g.50720273C>A | CA515258769 | SHANK3 | c.2041C>A (p.Pro681Thr) n.2625C>A c.1093C>A (p.Pro365Thr) c.583C>A (p.Pro195Thr) c.*1039C>A (n.*1039C>A) c.2437C>A (p.Pro813Thr) c.2419C>A (p.Pro807Thr) | gnomAD v4 |
| 22 | g.50720273C>G | CA515258770 | SHANK3 | c.2041C>G (p.Pro681Ala) n.2625C>G c.1093C>G (p.Pro365Ala) c.583C>G (p.Pro195Ala) c.*1039C>G (n.*1039C>G) c.2437C>G (p.Pro813Ala) c.2419C>G (p.Pro807Ala) | gnomAD v4 |
| 22 | g.50720273C>T | CA515258771 | SHANK3 | c.2041C>T (p.Pro681Ser) n.2625C>T c.1093C>T (p.Pro365Ser) c.583C>T (p.Pro195Ser) c.*1039C>T (n.*1039C>T) c.2437C>T (p.Pro813Ser) c.2419C>T (p.Pro807Ser) | gnomAD v4 |
| 22 | g.50720278_50720298del | CA2657582776 | SHANK3 | c.2046_2066del (p.Pro683_Pro689del) n.2630_2650del c.1098_1118del (p.Pro367_Pro373del) c.588_608del (p.Pro197_Pro203del) c.*1044_*1064del (n.*1044_*1064del) c.2442_2462del (p.Pro815_Pro821del) c.2424_2444del (p.Pro809_Pro815del) | gnomAD v4 |
| 22 | g.50720282_50720341del | CA2657582783 | SHANK3 | c.2050_2109del (p.Pro684_Pro703del) n.2634_2693del c.1102_1161del (p.Pro368_Pro387del) c.592_651del (p.Pro198_Pro217del) c.*1048_*1107del (n.*1048_*1107del) c.2446_2505del (p.Pro816_Pro835del) c.2428_2487del (p.Pro810_Pro829del) | gnomAD v4 |
| 22 | g.50720285_50720365del | CA2657582781 | SHANK3 | c.2053_2133del (p.Gln685_Pro711del) n.2637_2717del c.1105_1185del (p.Gln369_Pro395del) c.595_675del (p.Gln199_Pro225del) c.*1051_*1131del (n.*1051_*1131del) c.2449_2529del (p.Gln817_Pro843del) c.2431_2511del (p.Gln811_Pro837del) | gnomAD v4 |
| 22 | g.50720274C>A | CA515258772 | SHANK3 | c.2042C>A (p.Pro681Gln) n.2626C>A c.1094C>A (p.Pro365Gln) c.584C>A (p.Pro195Gln) c.*1040C>A (n.*1040C>A) c.2438C>A (p.Pro813Gln) c.2420C>A (p.Pro807Gln) | gnomAD v4 |
| 22 | g.50720274C>G | CA515258773 | SHANK3 | c.2042C>G (p.Pro681Arg) n.2626C>G c.1094C>G (p.Pro365Arg) c.584C>G (p.Pro195Arg) c.*1040C>G (n.*1040C>G) c.2438C>G (p.Pro813Arg) c.2420C>G (p.Pro807Arg) | gnomAD v4 |
| 22 | g.50720274C>T | CA515258774 | SHANK3 | c.2042C>T (p.Pro681Leu) n.2626C>T c.1094C>T (p.Pro365Leu) c.584C>T (p.Pro195Leu) c.*1040C>T (n.*1040C>T) c.2438C>T (p.Pro813Leu) c.2420C>T (p.Pro807Leu) | gnomAD v4 |
| 22 | g.50720275del | CA2657582786 | SHANK3 | c.2043del (p.Pro683ArgfsTer?) n.2627del c.1095del (p.Pro367ArgfsTer?) c.585del (p.Pro197ArgfsTer?) c.*1041del (n.*1041del) c.2439del (p.Pro815ArgfsTer?) c.2421del (p.Pro809ArgfsTer?) | dbSNP gnomAD v4 |
| 22 | g.50720275G>A | CA515258775 | SHANK3 | c.2043G>A (p.Pro681=) n.2627G>A c.1095G>A (p.Pro365=) c.585G>A (p.Pro195=) c.*1041G>A (n.*1041G>A) c.2439G>A (p.Pro813=) c.2421G>A (p.Pro807=) | gnomAD v4 |
| 22 | g.50720275G>C | CA515258776 | SHANK3 | c.2043G>C (p.Pro681=) n.2627G>C c.1095G>C (p.Pro365=) c.585G>C (p.Pro195=) c.*1041G>C (n.*1041G>C) c.2439G>C (p.Pro813=) c.2421G>C (p.Pro807=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720275G= | CA2411007532 | SHANK3 | c.2043G= (p.Pro681=) n.2627G= c.1095G= (p.Pro365=) c.585G= (p.Pro195=) c.*1041G= (n.*1041G=) c.2439G= (p.Pro813=) c.2421G= (p.Pro807=) | |
| 22 | g.50720275G>T | CA515258777 | SHANK3 | c.2043G>T (p.Pro681=) n.2627G>T c.1095G>T (p.Pro365=) c.585G>T (p.Pro195=) c.*1041G>T (n.*1041G>T) c.2439G>T (p.Pro813=) c.2421G>T (p.Pro807=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720276C>A | CA515258778 | SHANK3 | c.2044C>A (p.Pro682Thr) n.2628C>A c.1096C>A (p.Pro366Thr) c.586C>A (p.Pro196Thr) c.*1042C>A (n.*1042C>A) c.2440C>A (p.Pro814Thr) c.2422C>A (p.Pro808Thr) | gnomAD v4 |
| 22 | g.50720276C>G | CA515258779 | SHANK3 | c.2044C>G (p.Pro682Ala) n.2628C>G c.1096C>G (p.Pro366Ala) c.586C>G (p.Pro196Ala) c.*1042C>G (n.*1042C>G) c.2440C>G (p.Pro814Ala) c.2422C>G (p.Pro808Ala) | gnomAD v4 |
| 22 | g.50720276C>T | CA515258780 | SHANK3 | c.2044C>T (p.Pro682Ser) n.2628C>T c.1096C>T (p.Pro366Ser) c.586C>T (p.Pro196Ser) c.*1042C>T (n.*1042C>T) c.2440C>T (p.Pro814Ser) c.2422C>T (p.Pro808Ser) | gnomAD v4 |
| 22 | g.50720280del | CA2657582790 | SHANK3 | c.2048del (p.Pro683ArgfsTer?) n.2632del c.1100del (p.Pro367ArgfsTer?) c.590del (p.Pro197ArgfsTer?) c.*1046del (n.*1046del) c.2444del (p.Pro815ArgfsTer?) c.2426del (p.Pro809ArgfsTer?) | gnomAD v4 |
| 22 | g.50720284_50720307del | CA2657582789 | SHANK3 | c.2052_2075del (p.Gln685_Pro692del) n.2636_2659del c.1104_1127del (p.Gln369_Pro376del) c.594_617del (p.Gln199_Pro206del) c.*1050_*1073del (n.*1050_*1073del) c.2448_2471del (p.Gln817_Pro824del) c.2430_2453del (p.Gln811_Pro818del) | gnomAD v4 |
| 22 | g.50720277C>A | CA515258781 | SHANK3 | c.2045C>A (p.Pro682His) n.2629C>A c.1097C>A (p.Pro366His) c.587C>A (p.Pro196His) c.*1043C>A (n.*1043C>A) c.2441C>A (p.Pro814His) c.2423C>A (p.Pro808His) | gnomAD v4 |
| 22 | g.50720277C= | CA2411007533 | SHANK3 | c.2045C= (p.Pro682=) n.2629C= c.1097C= (p.Pro366=) c.587C= (p.Pro196=) c.*1043C= (n.*1043C=) c.2441C= (p.Pro814=) c.2423C= (p.Pro808=) | |
| 22 | g.50720277C>G | CA515258783 | SHANK3 | c.2045C>G (p.Pro682Arg) n.2629C>G c.1097C>G (p.Pro366Arg) c.587C>G (p.Pro196Arg) c.*1043C>G (n.*1043C>G) c.2441C>G (p.Pro814Arg) c.2423C>G (p.Pro808Arg) | gnomAD v4 |
| 22 | g.50720277C>T | CA515258782 | SHANK3 | c.2045C>T (p.Pro682Leu) n.2629C>T c.1097C>T (p.Pro366Leu) c.587C>T (p.Pro196Leu) c.*1043C>T (n.*1043C>T) c.2441C>T (p.Pro814Leu) c.2423C>T (p.Pro808Leu) | dbSNP gnomAD v2 |
| 22 | g.50720278C>A | CA515258784 | SHANK3 | c.2046C>A (p.Pro682=) n.2630C>A c.1098C>A (p.Pro366=) c.588C>A (p.Pro196=) c.*1044C>A (n.*1044C>A) c.2442C>A (p.Pro814=) c.2424C>A (p.Pro808=) | gnomAD v4 |
| 22 | g.50720278C= | CA2411007534 | SHANK3 | c.2046C= (p.Pro682=) n.2630C= c.1098C= (p.Pro366=) c.588C= (p.Pro196=) c.*1044C= (n.*1044C=) c.2442C= (p.Pro814=) c.2424C= (p.Pro808=) | |
| 22 | g.50720278C>G | CA515258786 | SHANK3 | c.2046C>G (p.Pro682=) n.2630C>G c.1098C>G (p.Pro366=) c.588C>G (p.Pro196=) c.*1044C>G (n.*1044C>G) c.2442C>G (p.Pro814=) c.2424C>G (p.Pro808=) | dbSNP gnomAD v4 |
| 22 | g.50720278C>T | CA515258787 | SHANK3 | c.2046C>T (p.Pro682=) n.2630C>T c.1098C>T (p.Pro366=) c.588C>T (p.Pro196=) c.*1044C>T (n.*1044C>T) c.2442C>T (p.Pro814=) c.2424C>T (p.Pro808=) | gnomAD v4 |
| 22 | g.50720279C>A | CA515258788 | SHANK3 | c.2047C>A (p.Pro683Thr) n.2631C>A c.1099C>A (p.Pro367Thr) c.589C>A (p.Pro197Thr) c.*1045C>A (n.*1045C>A) c.2443C>A (p.Pro815Thr) c.2425C>A (p.Pro809Thr) | gnomAD v4 |
| 22 | g.50720279C>G | CA515258789 | SHANK3 | c.2047C>G (p.Pro683Ala) n.2631C>G c.1099C>G (p.Pro367Ala) c.589C>G (p.Pro197Ala) c.*1045C>G (n.*1045C>G) c.2443C>G (p.Pro815Ala) c.2425C>G (p.Pro809Ala) | |
| 22 | g.50720279C>T | CA515258790 | SHANK3 | c.2047C>T (p.Pro683Ser) n.2631C>T c.1099C>T (p.Pro367Ser) c.589C>T (p.Pro197Ser) c.*1045C>T (n.*1045C>T) c.2443C>T (p.Pro815Ser) c.2425C>T (p.Pro809Ser) | gnomAD v4 |
| 22 | g.50720280C>A | CA515258791 | SHANK3 | c.2048C>A (p.Pro683Gln) n.2632C>A c.1100C>A (p.Pro367Gln) c.590C>A (p.Pro197Gln) c.*1046C>A (n.*1046C>A) c.2444C>A (p.Pro815Gln) c.2426C>A (p.Pro809Gln) | gnomAD v4 |
| 22 | g.50720280C>G | CA515258792 | SHANK3 | c.2048C>G (p.Pro683Arg) n.2632C>G c.1100C>G (p.Pro367Arg) c.590C>G (p.Pro197Arg) c.*1046C>G (n.*1046C>G) c.2444C>G (p.Pro815Arg) c.2426C>G (p.Pro809Arg) | |
| 22 | g.50720280C>T | CA515258793 | SHANK3 | c.2048C>T (p.Pro683Leu) n.2632C>T c.1100C>T (p.Pro367Leu) c.590C>T (p.Pro197Leu) c.*1046C>T (n.*1046C>T) c.2444C>T (p.Pro815Leu) c.2426C>T (p.Pro809Leu) | gnomAD v4 |
| 22 | g.50720281del | CA2497028888 | SHANK3 | c.2049del (p.Pro684ArgfsTer?) n.2633del c.1101del (p.Pro368ArgfsTer?) c.591del (p.Pro198ArgfsTer?) c.*1047del (n.*1047del) c.2445del (p.Pro816ArgfsTer?) c.2427del (p.Pro810ArgfsTer?) | dbSNP |
| 22 | g.50720281G>A | CA515258794 | SHANK3 | c.2049G>A (p.Pro683=) n.2633G>A c.1101G>A (p.Pro367=) c.591G>A (p.Pro197=) c.*1047G>A (n.*1047G>A) c.2445G>A (p.Pro815=) c.2427G>A (p.Pro809=) | dbSNP gnomAD v4 |
| 22 | g.50720281G>C | CA515258795 | SHANK3 | c.2049G>C (p.Pro683=) n.2633G>C c.1101G>C (p.Pro367=) c.591G>C (p.Pro197=) c.*1047G>C (n.*1047G>C) c.2445G>C (p.Pro815=) c.2427G>C (p.Pro809=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720281G= | CA2411007535 | SHANK3 | c.2049G= (p.Pro683=) n.2633G= c.1101G= (p.Pro367=) c.591G= (p.Pro197=) c.*1047G= (n.*1047G=) c.2445G= (p.Pro815=) c.2427G= (p.Pro809=) | |
| 22 | g.50720281G>T | CA515258796 | SHANK3 | c.2049G>T (p.Pro683=) n.2633G>T c.1101G>T (p.Pro367=) c.591G>T (p.Pro197=) c.*1047G>T (n.*1047G>T) c.2445G>T (p.Pro815=) c.2427G>T (p.Pro809=) | gnomAD v4 |
| 22 | g.50720281_50720293del | CA2738228243 | SHANK3 | c.2049_2061del (p.Pro684ArgfsTer?) n.2633_2645del c.1101_1113del (p.Pro368ArgfsTer?) c.591_603del (p.Pro198ArgfsTer?) c.*1047_*1059del (n.*1047_*1059del) c.2445_2457del (p.Pro816ArgfsTer?) c.2427_2439del (p.Pro810ArgfsTer?) | dbSNP |
| 22 | g.50720281_50720296del | CA2738228200 | SHANK3 | c.2049_2064del (p.Pro684LeufsTer?) n.2633_2648del c.1101_1116del (p.Pro368LeufsTer?) c.591_606del (p.Pro198LeufsTer?) c.*1047_*1062del (n.*1047_*1062del) c.2445_2460del (p.Pro816LeufsTer?) c.2427_2442del (p.Pro810LeufsTer?) | dbSNP |
| 22 | g.50720282C>A | CA515258799 | SHANK3 | c.2050C>A (p.Pro684Thr) n.2634C>A c.1102C>A (p.Pro368Thr) c.592C>A (p.Pro198Thr) c.*1048C>A (n.*1048C>A) c.2446C>A (p.Pro816Thr) c.2428C>A (p.Pro810Thr) | gnomAD v4 |
| 22 | g.50720282C>G | CA515258798 | SHANK3 | c.2050C>G (p.Pro684Ala) n.2634C>G c.1102C>G (p.Pro368Ala) c.592C>G (p.Pro198Ala) c.*1048C>G (n.*1048C>G) c.2446C>G (p.Pro816Ala) c.2428C>G (p.Pro810Ala) | |
| 22 | g.50720282C>T | CA515258797 | SHANK3 | c.2050C>T (p.Pro684Ser) n.2634C>T c.1102C>T (p.Pro368Ser) c.592C>T (p.Pro198Ser) c.*1048C>T (n.*1048C>T) c.2446C>T (p.Pro816Ser) c.2428C>T (p.Pro810Ser) | gnomAD v4 |
| 22 | g.50720283C>A | CA515258801 | SHANK3 | c.2051C>A (p.Pro684Gln) n.2635C>A c.1103C>A (p.Pro368Gln) c.593C>A (p.Pro198Gln) c.*1049C>A (n.*1049C>A) c.2447C>A (p.Pro816Gln) c.2429C>A (p.Pro810Gln) | gnomAD v4 |
| 22 | g.50720283C>G | CA515258802 | SHANK3 | c.2051C>G (p.Pro684Arg) n.2635C>G c.1103C>G (p.Pro368Arg) c.593C>G (p.Pro198Arg) c.*1049C>G (n.*1049C>G) c.2447C>G (p.Pro816Arg) c.2429C>G (p.Pro810Arg) | |
| 22 | g.50720283C>T | CA515258803 | SHANK3 | c.2051C>T (p.Pro684Leu) n.2635C>T c.1103C>T (p.Pro368Leu) c.593C>T (p.Pro198Leu) c.*1049C>T (n.*1049C>T) c.2447C>T (p.Pro816Leu) c.2429C>T (p.Pro810Leu) | gnomAD v4 |
| 22 | g.50720284_50720300del | CA2497028889 | SHANK3 | c.2052_2068del (p.Gln685ProfsTer?) n.2636_2652del c.1104_1120del (p.Gln369ProfsTer?) c.594_610del (p.Gln199ProfsTer?) c.*1050_*1066del (n.*1050_*1066del) c.2448_2464del (p.Gln817ProfsTer?) c.2430_2446del (p.Gln811ProfsTer?) | |
| 22 | g.50720284G>A | CA515258804 | SHANK3 | c.2052G>A (p.Pro684=) n.2636G>A c.1104G>A (p.Pro368=) c.594G>A (p.Pro198=) c.*1050G>A (n.*1050G>A) c.2448G>A (p.Pro816=) c.2430G>A (p.Pro810=) | gnomAD v4 COSMIC |
| 22 | g.50720284G>C | CA515258805 | SHANK3 | c.2052G>C (p.Pro684=) n.2636G>C c.1104G>C (p.Pro368=) c.594G>C (p.Pro198=) c.*1050G>C (n.*1050G>C) c.2448G>C (p.Pro816=) c.2430G>C (p.Pro810=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720284G= | CA2411007536 | SHANK3 | c.2052G= (p.Pro684=) n.2636G= c.1104G= (p.Pro368=) c.594G= (p.Pro198=) c.*1050G= (n.*1050G=) c.2448G= (p.Pro816=) c.2430G= (p.Pro810=) | |
| 22 | g.50720284G>T | CA515258806 | SHANK3 | c.2052G>T (p.Pro684=) n.2636G>T c.1104G>T (p.Pro368=) c.594G>T (p.Pro198=) c.*1050G>T (n.*1050G>T) c.2448G>T (p.Pro816=) c.2430G>T (p.Pro810=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720284_50720288del | CA2497028972 | SHANK3 | c.2052_2056del (p.Gln685ArgfsTer?) n.2636_2640del c.1104_1108del (p.Gln369ArgfsTer?) c.594_598del (p.Gln199ArgfsTer?) c.*1050_*1054del (n.*1050_*1054del) c.2448_2452del (p.Gln817ArgfsTer?) c.2430_2434del (p.Gln811ArgfsTer?) | dbSNP |
| 22 | g.50720284_50720293del | CA2573129698 | SHANK3 | c.2052_2061del (p.Gln685ArgfsTer?) n.2636_2645del c.1104_1113del (p.Gln369ArgfsTer?) c.594_603del (p.Gln199ArgfsTer?) c.*1050_*1059del (n.*1050_*1059del) c.2448_2457del (p.Gln817ArgfsTer?) c.2430_2439del (p.Gln811ArgfsTer?) | dbSNP |
| 22 | g.50720284_50720299del | CA2738228275 | SHANK3 | c.2052_2067del (p.Gln685ProfsTer?) n.2636_2651del c.1104_1119del (p.Gln369ProfsTer?) c.594_609del (p.Gln199ProfsTer?) c.*1050_*1065del (n.*1050_*1065del) c.2448_2463del (p.Gln817ProfsTer?) c.2430_2445del (p.Gln811ProfsTer?) | dbSNP |
| 22 | g.50720285C>A | CA515258807 | SHANK3 | c.2053C>A (p.Gln685Lys) n.2637C>A c.1105C>A (p.Gln369Lys) c.595C>A (p.Gln199Lys) c.*1051C>A (n.*1051C>A) c.2449C>A (p.Gln817Lys) c.2431C>A (p.Gln811Lys) | gnomAD v4 |
| 22 | g.50720285C>G | CA515258808 | SHANK3 | c.2053C>G (p.Gln685Glu) n.2637C>G c.1105C>G (p.Gln369Glu) c.595C>G (p.Gln199Glu) c.*1051C>G (n.*1051C>G) c.2449C>G (p.Gln817Glu) c.2431C>G (p.Gln811Glu) | gnomAD v4 |
| 22 | g.50720285C>T | CA515258809 | SHANK3 | c.2053C>T (p.Gln685Ter) n.2637C>T c.1105C>T (p.Gln369Ter) c.595C>T (p.Gln199Ter) c.*1051C>T (n.*1051C>T) c.2449C>T (p.Gln817Ter) c.2431C>T (p.Gln811Ter) | gnomAD v4 |
| 22 | g.50720286A= | CA2411007537 | SHANK3 | c.2054A= (p.Gln685=) n.2638A= c.1106A= (p.Gln369=) c.596A= (p.Gln199=) c.*1052A= (n.*1052A=) c.2450A= (p.Gln817=) c.2432A= (p.Gln811=) | |
| 22 | g.50720286A>C | CA16609106 | SHANK3 | c.2054A>C (p.Gln685Pro) n.2638A>C c.1106A>C (p.Gln369Pro) c.596A>C (p.Gln199Pro) c.*1052A>C (n.*1052A>C) c.2450A>C (p.Gln817Pro) c.2432A>C (p.Gln811Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720286A>G | CA515258811 | SHANK3 | c.2054A>G (p.Gln685Arg) n.2638A>G c.1106A>G (p.Gln369Arg) c.596A>G (p.Gln199Arg) c.*1052A>G (n.*1052A>G) c.2450A>G (p.Gln817Arg) c.2432A>G (p.Gln811Arg) | gnomAD v4 |
| 22 | g.50720286A>T | CA515258812 | SHANK3 | c.2054A>T (p.Gln685Leu) n.2638A>T c.1106A>T (p.Gln369Leu) c.596A>T (p.Gln199Leu) c.*1052A>T (n.*1052A>T) c.2450A>T (p.Gln817Leu) c.2432A>T (p.Gln811Leu) | |
| 22 | g.50720286_50720288del | CA2261233019 | SHANK3 | c.2054_2056del (p.Gln685_Thr686delinsPro) n.2638_2640del c.1106_1108del (p.Gln369_Thr370delinsPro) c.596_598del (p.Gln199_Thr200delinsPro) c.*1052_*1054del (n.*1052_*1054del) c.2450_2452del (p.Gln817_Thr818delinsPro) c.2432_2434del (p.Gln811_Thr812delinsPro) | dbSNP |
| 22 | g.50720287_50720288del | CA1139771599 | SHANK3 | c.2055_2056del (p.Gln685HisfsTer?) n.2639_2640del c.1107_1108del (p.Gln369HisfsTer?) c.597_598del (p.Gln199HisfsTer?) c.*1053_*1054del (n.*1053_*1054del) c.2451_2452del (p.Gln817HisfsTer?) c.2433_2434del (p.Gln811HisfsTer?) | |
| 22 | g.50720287G>A | CA10325922 | SHANK3 | c.2055G>A (p.Gln685=) n.2639G>A c.1107G>A (p.Gln369=) c.597G>A (p.Gln199=) c.*1053G>A (n.*1053G>A) c.2451G>A (p.Gln817=) c.2433G>A (p.Gln811=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720287G>C | CA515258814 | SHANK3 | c.2055G>C (p.Gln685His) n.2639G>C c.1107G>C (p.Gln369His) c.597G>C (p.Gln199His) c.*1053G>C (n.*1053G>C) c.2451G>C (p.Gln817His) c.2433G>C (p.Gln811His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720287G= | CA2411007538 | SHANK3 | c.2055G= (p.Gln685=) n.2639G= c.1107G= (p.Gln369=) c.597G= (p.Gln199=) c.*1053G= (n.*1053G=) c.2451G= (p.Gln817=) c.2433G= (p.Gln811=) | |
| 22 | g.50720287G>T | CA515258813 | SHANK3 | c.2055G>T (p.Gln685His) n.2639G>T c.1107G>T (p.Gln369His) c.597G>T (p.Gln199His) c.*1053G>T (n.*1053G>T) c.2451G>T (p.Gln817His) c.2433G>T (p.Gln811His) | gnomAD v4 |
| 22 | g.50720288A>C | CA515258815 | SHANK3 | c.2056A>C (p.Thr686Pro) n.2640A>C c.1108A>C (p.Thr370Pro) c.598A>C (p.Thr200Pro) c.*1054A>C (n.*1054A>C) c.2452A>C (p.Thr818Pro) c.2434A>C (p.Thr812Pro) | |
| 22 | g.50720288A>G | CA515258819 | SHANK3 | c.2056A>G (p.Thr686Ala) n.2640A>G c.1108A>G (p.Thr370Ala) c.598A>G (p.Thr200Ala) c.*1054A>G (n.*1054A>G) c.2452A>G (p.Thr818Ala) c.2434A>G (p.Thr812Ala) | gnomAD v4 |
| 22 | g.50720288A>T | CA515258818 | SHANK3 | c.2056A>T (p.Thr686Ser) n.2640A>T c.1108A>T (p.Thr370Ser) c.598A>T (p.Thr200Ser) c.*1054A>T (n.*1054A>T) c.2452A>T (p.Thr818Ser) c.2434A>T (p.Thr812Ser) | |
| 22 | g.50720289C>A | CA515258820 | SHANK3 | c.2057C>A (p.Thr686Asn) n.2641C>A c.1109C>A (p.Thr370Asn) c.599C>A (p.Thr200Asn) c.*1055C>A (n.*1055C>A) c.2453C>A (p.Thr818Asn) c.2435C>A (p.Thr812Asn) | dbSNP gnomAD v4 |
| 22 | g.50720289C= | CA2411007539 | SHANK3 | c.2057C= (p.Thr686=) n.2641C= c.1109C= (p.Thr370=) c.599C= (p.Thr200=) c.*1055C= (n.*1055C=) c.2453C= (p.Thr818=) c.2435C= (p.Thr812=) | |
| 22 | g.50720289C>G | CA515258821 | SHANK3 | c.2057C>G (p.Thr686Ser) n.2641C>G c.1109C>G (p.Thr370Ser) c.599C>G (p.Thr200Ser) c.*1055C>G (n.*1055C>G) c.2453C>G (p.Thr818Ser) c.2435C>G (p.Thr812Ser) | gnomAD v4 |
| 22 | g.50720289C>T | CA515258822 | SHANK3 | c.2057C>T (p.Thr686Ile) n.2641C>T c.1109C>T (p.Thr370Ile) c.599C>T (p.Thr200Ile) c.*1055C>T (n.*1055C>T) c.2453C>T (p.Thr818Ile) c.2435C>T (p.Thr812Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720296_50720313dup | CA2657582830 | SHANK3 | c.2064_2081dup (p.Pro694_Tyr695insProProProProAlaPro) n.2648_2665dup c.1116_1133dup (p.Pro378_Tyr379insProProProProAlaPro) c.606_623dup (p.Pro208_Tyr209insProProProProAlaPro) c.*1062_*1079dup (n.*1062_*1079dup) c.2460_2477dup (p.Pro826_Tyr827insProProProProAlaPro) c.2442_2459dup (p.Pro820_Tyr821insProProProProAlaPro) | gnomAD v4 |
| 22 | g.50720296_50720313del | CA2657582827 | SHANK3 | c.2064_2081del (p.Pro689_Pro694del) n.2648_2665del c.1116_1133del (p.Pro373_Pro378del) c.606_623del (p.Pro203_Pro208del) c.*1062_*1079del (n.*1062_*1079del) c.2460_2477del (p.Pro821_Pro826del) c.2442_2459del (p.Pro815_Pro820del) | gnomAD v4 |
| 22 | g.50720290C>A | CA515258823 | SHANK3 | c.2058C>A (p.Thr686=) n.2642C>A c.1110C>A (p.Thr370=) c.600C>A (p.Thr200=) c.*1056C>A (n.*1056C>A) c.2454C>A (p.Thr818=) c.2436C>A (p.Thr812=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720290C= | CA2411007540 | SHANK3 | c.2058C= (p.Thr686=) n.2642C= c.1110C= (p.Thr370=) c.600C= (p.Thr200=) c.*1056C= (n.*1056C=) c.2454C= (p.Thr818=) c.2436C= (p.Thr812=) | |
| 22 | g.50720290C>G | CA515258825 | SHANK3 | c.2058C>G (p.Thr686=) n.2642C>G c.1110C>G (p.Thr370=) c.600C>G (p.Thr200=) c.*1056C>G (n.*1056C>G) c.2454C>G (p.Thr818=) c.2436C>G (p.Thr812=) | |
| 22 | g.50720290C>T | CA325578035 | SHANK3 | c.2058C>T (p.Thr686=) n.2642C>T c.1110C>T (p.Thr370=) c.600C>T (p.Thr200=) c.*1056C>T (n.*1056C>T) c.2454C>T (p.Thr818=) c.2436C>T (p.Thr812=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720291G>A | CA515258826 | SHANK3 | c.2059G>A (p.Ala687Thr) n.2643G>A c.1111G>A (p.Ala371Thr) c.601G>A (p.Ala201Thr) c.*1057G>A (n.*1057G>A) c.2455G>A (p.Ala819Thr) c.2437G>A (p.Ala813Thr) | gnomAD v4 |
| 22 | g.50720291G>C | CA515258827 | SHANK3 | c.2059G>C (p.Ala687Pro) n.2643G>C c.1111G>C (p.Ala371Pro) c.601G>C (p.Ala201Pro) c.*1057G>C (n.*1057G>C) c.2455G>C (p.Ala819Pro) c.2437G>C (p.Ala813Pro) | dbSNP gnomAD v4 |
| 22 | g.50720291G>T | CA515258829 | SHANK3 | c.2059G>T (p.Ala687Ser) n.2643G>T c.1111G>T (p.Ala371Ser) c.601G>T (p.Ala201Ser) c.*1057G>T (n.*1057G>T) c.2455G>T (p.Ala819Ser) c.2437G>T (p.Ala813Ser) | |
| 22 | g.50720291_50720293del | CA2738228406 | SHANK3 | c.2059_2061del (p.Ala687del) n.2643_2645del c.1111_1113del (p.Ala371del) c.601_603del (p.Ala201del) c.*1057_*1059del (n.*1057_*1059del) c.2455_2457del (p.Ala819del) c.2437_2439del (p.Ala813del) | dbSNP |
| 22 | g.50720292C>A | CA515258830 | SHANK3 | c.2060C>A (p.Ala687Glu) n.2644C>A c.1112C>A (p.Ala371Glu) c.602C>A (p.Ala201Glu) c.*1058C>A (n.*1058C>A) c.2456C>A (p.Ala819Glu) c.2438C>A (p.Ala813Glu) | gnomAD v4 |
| 22 | g.50720292C= | CA2411007541 | SHANK3 | c.2060C= (p.Ala687=) n.2644C= c.1112C= (p.Ala371=) c.602C= (p.Ala201=) c.*1058C= (n.*1058C=) c.2456C= (p.Ala819=) c.2438C= (p.Ala813=) | |
| 22 | g.50720292C>G | CA515258831 | SHANK3 | c.2060C>G (p.Ala687Gly) n.2644C>G c.1112C>G (p.Ala371Gly) c.602C>G (p.Ala201Gly) c.*1058C>G (n.*1058C>G) c.2456C>G (p.Ala819Gly) c.2438C>G (p.Ala813Gly) | gnomAD v4 |
| 22 | g.50720292C>T | CA515258832 | SHANK3 | c.2060C>T (p.Ala687Val) n.2644C>T c.1112C>T (p.Ala371Val) c.602C>T (p.Ala201Val) c.*1058C>T (n.*1058C>T) c.2456C>T (p.Ala819Val) c.2438C>T (p.Ala813Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720299_50720355del | CA2657582845 | SHANK3 | c.2067_2123del (p.Pro690_Pro708del) n.2651_2707del c.1119_1175del (p.Pro374_Pro392del) c.609_665del (p.Pro204_Pro222del) c.*1065_*1121del (n.*1065_*1121del) c.2463_2519del (p.Pro822_Pro840del) c.2445_2501del (p.Pro816_Pro834del) | gnomAD v4 |
| 22 | g.50720293G>A | CA515258835 | SHANK3 | c.2061G>A (p.Ala687=) n.2645G>A c.1113G>A (p.Ala371=) c.603G>A (p.Ala201=) c.*1059G>A (n.*1059G>A) c.2457G>A (p.Ala819=) c.2439G>A (p.Ala813=) | dbSNP gnomAD v4 |
| 22 | g.50720293G>C | CA515258833 | SHANK3 | c.2061G>C (p.Ala687=) n.2645G>C c.1113G>C (p.Ala371=) c.603G>C (p.Ala201=) c.*1059G>C (n.*1059G>C) c.2457G>C (p.Ala819=) c.2439G>C (p.Ala813=) | ClinVar dbSNP |
| 22 | g.50720293G= | CA2411007542 | SHANK3 | c.2061G= (p.Ala687=) n.2645G= c.1113G= (p.Ala371=) c.603G= (p.Ala201=) c.*1059G= (n.*1059G=) c.2457G= (p.Ala819=) c.2439G= (p.Ala813=) | |
| 22 | g.50720293G>T | CA515258834 | SHANK3 | c.2061G>T (p.Ala687=) n.2645G>T c.1113G>T (p.Ala371=) c.603G>T (p.Ala201=) c.*1059G>T (n.*1059G>T) c.2457G>T (p.Ala819=) c.2439G>T (p.Ala813=) | gnomAD v4 |
| 22 | g.50720294C>A | CA515258836 | SHANK3 | c.2062C>A (p.Pro688Thr) n.2646C>A c.1114C>A (p.Pro372Thr) c.604C>A (p.Pro202Thr) c.*1060C>A (n.*1060C>A) c.2458C>A (p.Pro820Thr) c.2440C>A (p.Pro814Thr) | gnomAD v4 |
| 22 | g.50720294C>G | CA515258837 | SHANK3 | c.2062C>G (p.Pro688Ala) n.2646C>G c.1114C>G (p.Pro372Ala) c.604C>G (p.Pro202Ala) c.*1060C>G (n.*1060C>G) c.2458C>G (p.Pro820Ala) c.2440C>G (p.Pro814Ala) | |
| 22 | g.50720294C>T | CA515258838 | SHANK3 | c.2062C>T (p.Pro688Ser) n.2646C>T c.1114C>T (p.Pro372Ser) c.604C>T (p.Pro202Ser) c.*1060C>T (n.*1060C>T) c.2458C>T (p.Pro820Ser) c.2440C>T (p.Pro814Ser) | gnomAD v4 |
| 22 | g.50720295C>A | CA515258839 | SHANK3 | c.2063C>A (p.Pro688Gln) n.2647C>A c.1115C>A (p.Pro372Gln) c.605C>A (p.Pro202Gln) c.*1061C>A (n.*1061C>A) c.2459C>A (p.Pro820Gln) c.2441C>A (p.Pro814Gln) | gnomAD v4 |
| 22 | g.50720295C= | CA2411007543 | SHANK3 | c.2063C= (p.Pro688=) n.2647C= c.1115C= (p.Pro372=) c.605C= (p.Pro202=) c.*1061C= (n.*1061C=) c.2459C= (p.Pro820=) c.2441C= (p.Pro814=) | |
| 22 | g.50720295C>G | CA515258840 | SHANK3 | c.2063C>G (p.Pro688Arg) n.2647C>G c.1115C>G (p.Pro372Arg) c.605C>G (p.Pro202Arg) c.*1061C>G (n.*1061C>G) c.2459C>G (p.Pro820Arg) c.2441C>G (p.Pro814Arg) | |
| 22 | g.50720295C>T | CA325578041 | SHANK3 | c.2063C>T (p.Pro688Leu) n.2647C>T c.1115C>T (p.Pro372Leu) c.605C>T (p.Pro202Leu) c.*1061C>T (n.*1061C>T) c.2459C>T (p.Pro820Leu) c.2441C>T (p.Pro814Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720296G>A | CA515258841 | SHANK3 | c.2064G>A (p.Pro688=) n.2648G>A c.1116G>A (p.Pro372=) c.606G>A (p.Pro202=) c.*1062G>A (n.*1062G>A) c.2460G>A (p.Pro820=) c.2442G>A (p.Pro814=) | dbSNP gnomAD v4 |
| 22 | g.50720296G>C | CA515258842 | SHANK3 | c.2064G>C (p.Pro688=) n.2648G>C c.1116G>C (p.Pro372=) c.606G>C (p.Pro202=) c.*1062G>C (n.*1062G>C) c.2460G>C (p.Pro820=) c.2442G>C (p.Pro814=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720296G= | CA2411007544 | SHANK3 | c.2064G= (p.Pro688=) n.2648G= c.1116G= (p.Pro372=) c.606G= (p.Pro202=) c.*1062G= (n.*1062G=) c.2460G= (p.Pro820=) c.2442G= (p.Pro814=) | |
| 22 | g.50720296G>T | CA515258843 | SHANK3 | c.2064G>T (p.Pro688=) n.2648G>T c.1116G>T (p.Pro372=) c.606G>T (p.Pro202=) c.*1062G>T (n.*1062G>T) c.2460G>T (p.Pro820=) c.2442G>T (p.Pro814=) | gnomAD v4 |
| 22 | g.50720297C>A | CA515258844 | SHANK3 | c.2065C>A (p.Pro689Thr) n.2649C>A c.1117C>A (p.Pro373Thr) c.607C>A (p.Pro203Thr) c.*1063C>A (n.*1063C>A) c.2461C>A (p.Pro821Thr) c.2443C>A (p.Pro815Thr) | dbSNP gnomAD v4 |
| 22 | g.50720297C>G | CA515258845 | SHANK3 | c.2065C>G (p.Pro689Ala) n.2649C>G c.1117C>G (p.Pro373Ala) c.607C>G (p.Pro203Ala) c.*1063C>G (n.*1063C>G) c.2461C>G (p.Pro821Ala) c.2443C>G (p.Pro815Ala) | |
| 22 | g.50720297C>T | CA515258846 | SHANK3 | c.2065C>T (p.Pro689Ser) n.2649C>T c.1117C>T (p.Pro373Ser) c.607C>T (p.Pro203Ser) c.*1063C>T (n.*1063C>T) c.2461C>T (p.Pro821Ser) c.2443C>T (p.Pro815Ser) | dbSNP gnomAD v4 |
| 22 | g.50720298C>A | CA515258850 | SHANK3 | c.2066C>A (p.Pro689His) n.2650C>A c.1118C>A (p.Pro373His) c.608C>A (p.Pro203His) c.*1064C>A (n.*1064C>A) c.2462C>A (p.Pro821His) c.2444C>A (p.Pro815His) | gnomAD v4 |
| 22 | g.50720298C>G | CA515258849 | SHANK3 | c.2066C>G (p.Pro689Arg) n.2650C>G c.1118C>G (p.Pro373Arg) c.608C>G (p.Pro203Arg) c.*1064C>G (n.*1064C>G) c.2462C>G (p.Pro821Arg) c.2444C>G (p.Pro815Arg) | gnomAD v4 |
| 22 | g.50720298C>T | CA515258848 | SHANK3 | c.2066C>T (p.Pro689Leu) n.2650C>T c.1118C>T (p.Pro373Leu) c.608C>T (p.Pro203Leu) c.*1064C>T (n.*1064C>T) c.2462C>T (p.Pro821Leu) c.2444C>T (p.Pro815Leu) | gnomAD v4 |
| 22 | g.50720299T>A | CA515258853 | SHANK3 | c.2067T>A (p.Pro689=) n.2651T>A c.1119T>A (p.Pro373=) c.609T>A (p.Pro203=) c.*1065T>A (n.*1065T>A) c.2463T>A (p.Pro821=) c.2445T>A (p.Pro815=) | |
| 22 | g.50720299T>C | CA515258851 | SHANK3 | c.2067T>C (p.Pro689=) n.2651T>C c.1119T>C (p.Pro373=) c.609T>C (p.Pro203=) c.*1065T>C (n.*1065T>C) c.2463T>C (p.Pro821=) c.2445T>C (p.Pro815=) | dbSNP gnomAD v4 |
| 22 | g.50720299T>G | CA515258852 | SHANK3 | c.2067T>G (p.Pro689=) n.2651T>G c.1119T>G (p.Pro373=) c.609T>G (p.Pro203=) c.*1065T>G (n.*1065T>G) c.2463T>G (p.Pro821=) c.2445T>G (p.Pro815=) | gnomAD v4 |
| 22 | g.50720299T= | CA2411007546 | SHANK3 | c.2067T= (p.Pro689=) n.2651T= c.1119T= (p.Pro373=) c.609T= (p.Pro203=) c.*1065T= (n.*1065T=) c.2463T= (p.Pro821=) c.2445T= (p.Pro815=) | |
| 22 | g.50720299_50720300delinsTC | CA2411007545 | SHANK3 | c.2067_2068delinsTC (p.Pro689=) n.2651_2652delinsTC c.1119_1120delinsTC (p.Pro373=) c.609_610delinsTC (p.Pro203=) c.*1065_*1066delinsTC (n.*1065_*1066delinsTC) c.2463_2464delinsTC (p.Pro821=) c.2445_2446delinsTC (p.Pro815=) | |
| 22 | g.50720300C>A | CA515258854 | SHANK3 | c.2068C>A (p.Pro690Thr) n.2652C>A c.1120C>A (p.Pro374Thr) c.610C>A (p.Pro204Thr) c.*1066C>A (n.*1066C>A) c.2464C>A (p.Pro822Thr) c.2446C>A (p.Pro816Thr) | gnomAD v4 |
| 22 | g.50720300C= | CA2411007547 | SHANK3 | c.2068C= (p.Pro690=) n.2652C= c.1120C= (p.Pro374=) c.610C= (p.Pro204=) c.*1066C= (n.*1066C=) c.2464C= (p.Pro822=) c.2446C= (p.Pro816=) | |
| 22 | g.50720300C>G | CA515258855 | SHANK3 | c.2068C>G (p.Pro690Ala) n.2652C>G c.1120C>G (p.Pro374Ala) c.610C>G (p.Pro204Ala) c.*1066C>G (n.*1066C>G) c.2464C>G (p.Pro822Ala) c.2446C>G (p.Pro816Ala) | |
| 22 | g.50720300C>T | CA515258856 | SHANK3 | c.2068C>T (p.Pro690Ser) n.2652C>T c.1120C>T (p.Pro374Ser) c.610C>T (p.Pro204Ser) c.*1066C>T (n.*1066C>T) c.2464C>T (p.Pro822Ser) c.2446C>T (p.Pro816Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720304dup | CA2819315378 | SHANK3 | c.2072dup (p.Pro692AlafsTer?) n.2656dup c.1124dup (p.Pro376AlafsTer?) c.614dup (p.Pro206AlafsTer?) c.*1070dup (n.*1070dup) c.2468dup (p.Pro824AlafsTer?) c.2450dup (p.Pro818AlafsTer?) | |
| 22 | g.50720304del | CA640058691 | SHANK3 | c.2072del (p.Pro691ArgfsTer?) n.2656del c.1124del (p.Pro375ArgfsTer?) c.614del (p.Pro205ArgfsTer?) c.*1070del (n.*1070del) c.2468del (p.Pro823ArgfsTer?) c.2450del (p.Pro817ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720300_50720308dup | CA1026671805 | SHANK3 | c.2068_2076dup (p.Pro692_Ala693insProProPro) n.2652_2660dup c.1120_1128dup (p.Pro376_Ala377insProProPro) c.610_618dup (p.Pro206_Ala207insProProPro) c.*1066_*1074dup (n.*1066_*1074dup) c.2464_2472dup (p.Pro824_Ala825insProProPro) c.2446_2454dup (p.Pro818_Ala819insProProPro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720308_50720364del | CA1026671807 | SHANK3 | c.2076_2132del (p.Ala693_Pro711del) n.2660_2716del c.1128_1184del (p.Ala377_Pro395del) c.618_674del (p.Ala207_Pro225del) c.*1074_*1130del (n.*1074_*1130del) c.2472_2528del (p.Ala825_Pro843del) c.2454_2510del (p.Ala819_Pro837del) | gnomAD v3 gnomAD v4 |
| 22 | g.50720301C>A | CA515258859 | SHANK3 | c.2069C>A (p.Pro690His) n.2653C>A c.1121C>A (p.Pro374His) c.611C>A (p.Pro204His) c.*1067C>A (n.*1067C>A) c.2465C>A (p.Pro822His) c.2447C>A (p.Pro816His) | gnomAD v4 |
| 22 | g.50720301C>G | CA515258858 | SHANK3 | c.2069C>G (p.Pro690Arg) n.2653C>G c.1121C>G (p.Pro374Arg) c.611C>G (p.Pro204Arg) c.*1067C>G (n.*1067C>G) c.2465C>G (p.Pro822Arg) c.2447C>G (p.Pro816Arg) | gnomAD v4 |
| 22 | g.50720301C>T | CA515258857 | SHANK3 | c.2069C>T (p.Pro690Leu) n.2653C>T c.1121C>T (p.Pro374Leu) c.611C>T (p.Pro204Leu) c.*1067C>T (n.*1067C>T) c.2465C>T (p.Pro822Leu) c.2447C>T (p.Pro816Leu) | gnomAD v4 |
| 22 | g.50720302C>A | CA515258860 | SHANK3 | c.2070C>A (p.Pro690=) n.2654C>A c.1122C>A (p.Pro374=) c.612C>A (p.Pro204=) c.*1068C>A (n.*1068C>A) c.2466C>A (p.Pro822=) c.2448C>A (p.Pro816=) | dbSNP gnomAD v4 |
| 22 | g.50720302C= | CA2411007548 | SHANK3 | c.2070C= (p.Pro690=) n.2654C= c.1122C= (p.Pro374=) c.612C= (p.Pro204=) c.*1068C= (n.*1068C=) c.2466C= (p.Pro822=) c.2448C= (p.Pro816=) | |
| 22 | g.50720302C>G | CA515258861 | SHANK3 | c.2070C>G (p.Pro690=) n.2654C>G c.1122C>G (p.Pro374=) c.612C>G (p.Pro204=) c.*1068C>G (n.*1068C>G) c.2466C>G (p.Pro822=) c.2448C>G (p.Pro816=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720302C>T | CA515258862 | SHANK3 | c.2070C>T (p.Pro690=) n.2654C>T c.1122C>T (p.Pro374=) c.612C>T (p.Pro204=) c.*1068C>T (n.*1068C>T) c.2466C>T (p.Pro822=) c.2448C>T (p.Pro816=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720303C>A | CA515258863 | SHANK3 | c.2071C>A (p.Pro691Thr) n.2655C>A c.1123C>A (p.Pro375Thr) c.613C>A (p.Pro205Thr) c.*1069C>A (n.*1069C>A) c.2467C>A (p.Pro823Thr) c.2449C>A (p.Pro817Thr) | gnomAD v4 |
| 22 | g.50720303C>G | CA515258864 | SHANK3 | c.2071C>G (p.Pro691Ala) n.2655C>G c.1123C>G (p.Pro375Ala) c.613C>G (p.Pro205Ala) c.*1069C>G (n.*1069C>G) c.2467C>G (p.Pro823Ala) c.2449C>G (p.Pro817Ala) | |
| 22 | g.50720303C>T | CA515258865 | SHANK3 | c.2071C>T (p.Pro691Ser) n.2655C>T c.1123C>T (p.Pro375Ser) c.613C>T (p.Pro205Ser) c.*1069C>T (n.*1069C>T) c.2467C>T (p.Pro823Ser) c.2449C>T (p.Pro817Ser) | gnomAD v4 |
| 22 | g.50720304C>A | CA515258866 | SHANK3 | c.2072C>A (p.Pro691Gln) n.2656C>A c.1124C>A (p.Pro375Gln) c.614C>A (p.Pro205Gln) c.*1070C>A (n.*1070C>A) c.2468C>A (p.Pro823Gln) c.2450C>A (p.Pro817Gln) | gnomAD v4 |
| 22 | g.50720304C= | CA2411007549 | SHANK3 | c.2072C= (p.Pro691=) n.2656C= c.1124C= (p.Pro375=) c.614C= (p.Pro205=) c.*1070C= (n.*1070C=) c.2468C= (p.Pro823=) c.2450C= (p.Pro817=) | |
| 22 | g.50720304C>G | CA515258868 | SHANK3 | c.2072C>G (p.Pro691Arg) n.2656C>G c.1124C>G (p.Pro375Arg) c.614C>G (p.Pro205Arg) c.*1070C>G (n.*1070C>G) c.2468C>G (p.Pro823Arg) c.2450C>G (p.Pro817Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720304C>T | CA515258867 | SHANK3 | c.2072C>T (p.Pro691Leu) n.2656C>T c.1124C>T (p.Pro375Leu) c.614C>T (p.Pro205Leu) c.*1070C>T (n.*1070C>T) c.2468C>T (p.Pro823Leu) c.2450C>T (p.Pro817Leu) | gnomAD v4 |
| 22 | g.50720305G>A | CA515258869 | SHANK3 | c.2073G>A (p.Pro691=) n.2657G>A c.1125G>A (p.Pro375=) c.615G>A (p.Pro205=) c.*1071G>A (n.*1071G>A) c.2469G>A (p.Pro823=) c.2451G>A (p.Pro817=) | gnomAD v4 |
| 22 | g.50720305G>C | CA515258870 | SHANK3 | c.2073G>C (p.Pro691=) n.2657G>C c.1125G>C (p.Pro375=) c.615G>C (p.Pro205=) c.*1071G>C (n.*1071G>C) c.2469G>C (p.Pro823=) c.2451G>C (p.Pro817=) | ClinVar dbSNP |
| 22 | g.50720305G>T | CA515258871 | SHANK3 | c.2073G>T (p.Pro691=) n.2657G>T c.1125G>T (p.Pro375=) c.615G>T (p.Pro205=) c.*1071G>T (n.*1071G>T) c.2469G>T (p.Pro823=) c.2451G>T (p.Pro817=) | gnomAD v4 |
| 22 | g.50720306C>A | CA515258873 | SHANK3 | c.2074C>A (p.Pro692Thr) n.2658C>A c.1126C>A (p.Pro376Thr) c.616C>A (p.Pro206Thr) c.*1072C>A (n.*1072C>A) c.2470C>A (p.Pro824Thr) c.2452C>A (p.Pro818Thr) | gnomAD v4 |
| 22 | g.50720306C>G | CA515258875 | SHANK3 | c.2074C>G (p.Pro692Ala) n.2658C>G c.1126C>G (p.Pro376Ala) c.616C>G (p.Pro206Ala) c.*1072C>G (n.*1072C>G) c.2470C>G (p.Pro824Ala) c.2452C>G (p.Pro818Ala) | gnomAD v4 |
| 22 | g.50720306C>T | CA515258876 | SHANK3 | c.2074C>T (p.Pro692Ser) n.2658C>T c.1126C>T (p.Pro376Ser) c.616C>T (p.Pro206Ser) c.*1072C>T (n.*1072C>T) c.2470C>T (p.Pro824Ser) c.2452C>T (p.Pro818Ser) | gnomAD v4 |
| 22 | g.50720307C>A | CA515258878 | SHANK3 | c.2075C>A (p.Pro692His) n.2659C>A c.1127C>A (p.Pro376His) c.617C>A (p.Pro206His) c.*1073C>A (n.*1073C>A) c.2471C>A (p.Pro824His) c.2453C>A (p.Pro818His) | gnomAD v4 |
| 22 | g.50720307C= | CA2411007550 | SHANK3 | c.2075C= (p.Pro692=) n.2659C= c.1127C= (p.Pro376=) c.617C= (p.Pro206=) c.*1073C= (n.*1073C=) c.2471C= (p.Pro824=) c.2453C= (p.Pro818=) | |
| 22 | g.50720307C>G | CA515258879 | SHANK3 | c.2075C>G (p.Pro692Arg) n.2659C>G c.1127C>G (p.Pro376Arg) c.617C>G (p.Pro206Arg) c.*1073C>G (n.*1073C>G) c.2471C>G (p.Pro824Arg) c.2453C>G (p.Pro818Arg) | |
| 22 | g.50720307C>T | CA515258880 | SHANK3 | c.2075C>T (p.Pro692Leu) n.2659C>T c.1127C>T (p.Pro376Leu) c.617C>T (p.Pro206Leu) c.*1073C>T (n.*1073C>T) c.2471C>T (p.Pro824Leu) c.2453C>T (p.Pro818Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720308C>A | CA515258881 | SHANK3 | c.2076C>A (p.Pro692=) n.2660C>A c.1128C>A (p.Pro376=) c.618C>A (p.Pro206=) c.*1074C>A (n.*1074C>A) c.2472C>A (p.Pro824=) c.2454C>A (p.Pro818=) | gnomAD v4 |
| 22 | g.50720308C>G | CA515258882 | SHANK3 | c.2076C>G (p.Pro692=) n.2660C>G c.1128C>G (p.Pro376=) c.618C>G (p.Pro206=) c.*1074C>G (n.*1074C>G) c.2472C>G (p.Pro824=) c.2454C>G (p.Pro818=) | gnomAD v4 |
| 22 | g.50720308C>T | CA515258883 | SHANK3 | c.2076C>T (p.Pro692=) n.2660C>T c.1128C>T (p.Pro376=) c.618C>T (p.Pro206=) c.*1074C>T (n.*1074C>T) c.2472C>T (p.Pro824=) c.2454C>T (p.Pro818=) | gnomAD v4 |