| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158612884T>A | CA343011376 | SPTA1 | c.7067A>T (p.Glu2356Val) n.508A>T n.499A>T c.7049A>T (p.Glu2350Val) | |
| 1 | g.158612884T>C | CA343011377 | SPTA1 | c.7067A>G (p.Glu2356Gly) n.508A>G n.499A>G c.7049A>G (p.Glu2350Gly) | |
| 1 | g.158612884T>G | CA343011380 | SPTA1 | c.7067A>C (p.Glu2356Ala) n.508A>C n.499A>C c.7049A>C (p.Glu2350Ala) | |
| 1 | g.158612885C>A | CA343011383 | SPTA1 | c.7066G>T (p.Glu2356Ter) n.507G>T n.498G>T c.7048G>T (p.Glu2350Ter) | |
| 1 | g.158612885C= | CA1201536929 | SPTA1 | c.7066G= (p.Glu2356=) n.507G= n.498G= c.7048G= (p.Glu2350=) | |
| 1 | g.158612885C>G | CA343011386 | SPTA1 | c.7066G>C (p.Glu2356Gln) n.507G>C n.498G>C c.7048G>C (p.Glu2350Gln) | |
| 1 | g.158612885C>T | CA343011387 | SPTA1 | c.7066G>A (p.Glu2356Lys) n.507G>A n.498G>A c.7048G>A (p.Glu2350Lys) | dbSNP |
| 1 | g.158612886A= | CA1201536930 | SPTA1 | c.7065T= (p.Asp2355=) n.506T= n.497T= c.7047T= (p.Asp2349=) | |
| 1 | g.158612886A>C | CA343011389 | SPTA1 | c.7065T>G (p.Asp2355Glu) n.506T>G n.497T>G c.7047T>G (p.Asp2349Glu) | dbSNP |
| 1 | g.158612886A>G | CA421212639 | SPTA1 | c.7065T>C (p.Asp2355=) n.506T>C n.497T>C c.7047T>C (p.Asp2349=) | gnomAD v4 COSMIC |
| 1 | g.158612886A>T | CA343011392 | SPTA1 | c.7065T>A (p.Asp2355Glu) n.506T>A n.497T>A c.7047T>A (p.Asp2349Glu) | |
| 1 | g.158612887T>A | CA343011395 | SPTA1 | c.7064A>T (p.Asp2355Val) n.505A>T n.496A>T c.7046A>T (p.Asp2349Val) | |
| 1 | g.158612887T>C | CA31250598 | SPTA1 | c.7064A>G (p.Asp2355Gly) n.505A>G n.496A>G c.7046A>G (p.Asp2349Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612887T>G | CA343011400 | SPTA1 | c.7064A>C (p.Asp2355Ala) n.505A>C n.496A>C c.7046A>C (p.Asp2349Ala) | |
| 1 | g.158612887T= | CA1143926911 | SPTA1 | c.7064A= (p.Asp2355=) n.505A= n.496A= c.7046A= (p.Asp2349=) | |
| 1 | g.158612888C>A | CA343011402 | SPTA1 | c.7063G>T (p.Asp2355Tyr) n.504G>T n.495G>T c.7045G>T (p.Asp2349Tyr) | |
| 1 | g.158612888C>G | CA343011409 | SPTA1 | c.7063G>C (p.Asp2355His) n.504G>C n.495G>C c.7045G>C (p.Asp2349His) | |
| 1 | g.158612888C>T | CA343011412 | SPTA1 | c.7063G>A (p.Asp2355Asn) n.504G>A n.495G>A c.7045G>A (p.Asp2349Asn) | |
| 1 | g.158612889A>C | CA343011416 | SPTA1 | c.7062T>G (p.Ser2354Arg) n.503T>G n.494T>G c.7044T>G (p.Ser2348Arg) | gnomAD v4 |
| 1 | g.158612889A>G | CA421212664 | SPTA1 | c.7062T>C (p.Ser2354=) n.503T>C n.494T>C c.7044T>C (p.Ser2348=) | |
| 1 | g.158612889A>T | CA343011419 | SPTA1 | c.7062T>A (p.Ser2354Arg) n.503T>A n.494T>A c.7044T>A (p.Ser2348Arg) | |
| 1 | g.158612890C>A | CA343011426 | SPTA1 | c.7061G>T (p.Ser2354Ile) n.502G>T n.493G>T c.7043G>T (p.Ser2348Ile) | |
| 1 | g.158612890C>G | CA343011435 | SPTA1 | c.7061G>C (p.Ser2354Thr) n.502G>C n.493G>C c.7043G>C (p.Ser2348Thr) | |
| 1 | g.158612890C>T | CA343011440 | SPTA1 | c.7061G>A (p.Ser2354Asn) n.502G>A n.493G>A c.7043G>A (p.Ser2348Asn) | |
| 1 | g.158612891T>A | CA343011444 | SPTA1 | c.7060A>T (p.Ser2354Cys) n.501A>T n.492A>T c.7042A>T (p.Ser2348Cys) | |
| 1 | g.158612891T>C | CA1181739 | SPTA1 | c.7060A>G (p.Ser2354Gly) n.501A>G n.492A>G c.7042A>G (p.Ser2348Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612891T>G | CA343011448 | SPTA1 | c.7060A>C (p.Ser2354Arg) n.501A>C n.492A>C c.7042A>C (p.Ser2348Arg) | |
| 1 | g.158612891T= | CA1141755145 | SPTA1 | c.7060A= (p.Ser2354=) n.501A= n.492A= c.7042A= (p.Ser2348=) | |
| 1 | g.158612892G>A | CA421212680 | SPTA1 | c.7059C>T (p.Ser2353=) n.500C>T n.491C>T c.7041C>T (p.Ser2347=) | |
| 1 | g.158612892G>C | CA421212682 | SPTA1 | c.7059C>G (p.Ser2353=) n.500C>G n.491C>G c.7041C>G (p.Ser2347=) | |
| 1 | g.158612892G>T | CA421212684 | SPTA1 | c.7059C>A (p.Ser2353=) n.500C>A n.491C>A c.7041C>A (p.Ser2347=) | |
| 1 | g.158612893G>A | CA343011451 | SPTA1 | c.7058C>T (p.Ser2353Phe) n.499C>T n.490C>T c.7040C>T (p.Ser2347Phe) | |
| 1 | g.158612893G>C | CA343011453 | SPTA1 | c.7058C>G (p.Ser2353Cys) n.499C>G n.490C>G c.7040C>G (p.Ser2347Cys) | gnomAD v4 |
| 1 | g.158612893G>T | CA343011454 | SPTA1 | c.7058C>A (p.Ser2353Tyr) n.499C>A n.490C>A c.7040C>A (p.Ser2347Tyr) | |
| 1 | g.158612894A>C | CA343011455 | SPTA1 | c.7057T>G (p.Ser2353Ala) n.498T>G n.489T>G c.7039T>G (p.Ser2347Ala) | |
| 1 | g.158612894A>G | CA343011457 | SPTA1 | c.7057T>C (p.Ser2353Pro) n.498T>C n.489T>C c.7039T>C (p.Ser2347Pro) | |
| 1 | g.158612894A>T | CA343011460 | SPTA1 | c.7057T>A (p.Ser2353Thr) n.498T>A n.489T>A c.7039T>A (p.Ser2347Thr) | |
| 1 | g.158612895C>A | CA343011466 | SPTA1 | c.7056G>T (p.Lys2352Asn) n.497G>T n.488G>T c.7038G>T (p.Lys2346Asn) | |
| 1 | g.158612895C= | CA1201536931 | SPTA1 | c.7056G= (p.Lys2352=) n.497G= n.488G= c.7038G= (p.Lys2346=) | |
| 1 | g.158612895C>G | CA1181740 | SPTA1 | c.7056G>C (p.Lys2352Asn) n.497G>C n.488G>C c.7038G>C (p.Lys2346Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612895C>T | CA421212706 | SPTA1 | c.7056G>A (p.Lys2352=) n.497G>A n.488G>A c.7038G>A (p.Lys2346=) | |
| 1 | g.158612896T>A | CA343011474 | SPTA1 | c.7055A>T (p.Lys2352Met) n.496A>T n.487A>T c.7037A>T (p.Lys2346Met) | |
| 1 | g.158612896T>C | CA343011488 | SPTA1 | c.7055A>G (p.Lys2352Arg) n.496A>G n.487A>G c.7037A>G (p.Lys2346Arg) | |
| 1 | g.158612896T>G | CA343011482 | SPTA1 | c.7055A>C (p.Lys2352Thr) n.496A>C n.487A>C c.7037A>C (p.Lys2346Thr) | gnomAD v4 COSMIC |
| 1 | g.158612897T>A | CA343011490 | SPTA1 | c.7054A>T (p.Lys2352Ter) n.495A>T n.486A>T c.7036A>T (p.Lys2346Ter) | |
| 1 | g.158612897T>C | CA343011493 | SPTA1 | c.7054A>G (p.Lys2352Glu) n.495A>G n.486A>G c.7036A>G (p.Lys2346Glu) | |
| 1 | g.158612897T>G | CA343011496 | SPTA1 | c.7054A>C (p.Lys2352Gln) n.495A>C n.486A>C c.7036A>C (p.Lys2346Gln) | |
| 1 | g.158612898G>A | CA421212717 | SPTA1 | c.7053C>T (p.Ile2351=) n.494C>T n.485C>T c.7035C>T (p.Ile2345=) | COSMIC |
| 1 | g.158612898G>C | CA343011499 | SPTA1 | c.7053C>G (p.Ile2351Met) n.494C>G n.485C>G c.7035C>G (p.Ile2345Met) | |
| 1 | g.158612898G>T | CA421212720 | SPTA1 | c.7053C>A (p.Ile2351=) n.494C>A n.485C>A c.7035C>A (p.Ile2345=) | |
| 1 | g.158612899A>C | CA343011503 | SPTA1 | c.7052T>G (p.Ile2351Ser) n.493T>G n.484T>G c.7034T>G (p.Ile2345Ser) | |
| 1 | g.158612899A>G | CA343011504 | SPTA1 | c.7052T>C (p.Ile2351Thr) n.493T>C n.484T>C c.7034T>C (p.Ile2345Thr) | |
| 1 | g.158612899A>T | CA343011505 | SPTA1 | c.7052T>A (p.Ile2351Asn) n.493T>A n.484T>A c.7034T>A (p.Ile2345Asn) | |
| 1 | g.158612900T>A | CA343011514 | SPTA1 | c.7051A>T (p.Ile2351Phe) n.492A>T n.483A>T c.7033A>T (p.Ile2345Phe) | |
| 1 | g.158612900T>C | CA343011507 | SPTA1 | c.7051A>G (p.Ile2351Val) n.492A>G n.483A>G c.7033A>G (p.Ile2345Val) | dbSNP gnomAD v4 |
| 1 | g.158612900T>G | CA343011509 | SPTA1 | c.7051A>C (p.Ile2351Leu) n.492A>C n.483A>C c.7033A>C (p.Ile2345Leu) | |
| 1 | g.158612900T= | CA1201536932 | SPTA1 | c.7051A= (p.Ile2351=) n.492A= n.483A= c.7033A= (p.Ile2345=) | |
| 1 | g.158612901G>A | CA421212732 | SPTA1 | c.7050C>T (p.Asn2350=) n.491C>T n.482C>T c.7032C>T (p.Asn2344=) | gnomAD v4 |
| 1 | g.158612901G>C | CA343011517 | SPTA1 | c.7050C>G (p.Asn2350Lys) n.491C>G n.482C>G c.7032C>G (p.Asn2344Lys) | |
| 1 | g.158612901G>T | CA343011521 | SPTA1 | c.7050C>A (p.Asn2350Lys) n.491C>A n.482C>A c.7032C>A (p.Asn2344Lys) | |
| 1 | g.158612902T>A | CA343011524 | SPTA1 | c.7049A>T (p.Asn2350Ile) n.490A>T n.481A>T c.7031A>T (p.Asn2344Ile) | |
| 1 | g.158612902T>C | CA343011527 | SPTA1 | c.7049A>G (p.Asn2350Ser) n.490A>G n.481A>G c.7031A>G (p.Asn2344Ser) | |
| 1 | g.158612902T>G | CA343011534 | SPTA1 | c.7049A>C (p.Asn2350Thr) n.490A>C n.481A>C c.7031A>C (p.Asn2344Thr) | |
| 1 | g.158612903T>A | CA343011537 | SPTA1 | c.7048A>T (p.Asn2350Tyr) n.489A>T n.480A>T c.7030A>T (p.Asn2344Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612903T>C | CA31250623 | SPTA1 | c.7048A>G (p.Asn2350Asp) n.489A>G n.480A>G c.7030A>G (p.Asn2344Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612903T>G | CA343011540 | SPTA1 | c.7048A>C (p.Asn2350His) n.489A>C n.480A>C c.7030A>C (p.Asn2344His) | gnomAD v4 |
| 1 | g.158612903T= | CA1201536933 | SPTA1 | c.7048A= (p.Asn2350=) n.489A= n.480A= c.7030A= (p.Asn2344=) | |
| 1 | g.158612904T>A | CA343011545 | SPTA1 | c.7047A>T (p.Glu2349Asp) n.488A>T n.479A>T c.7029A>T (p.Glu2343Asp) | |
| 1 | g.158612904T>C | CA421212752 | SPTA1 | c.7047A>G (p.Glu2349=) n.488A>G n.479A>G c.7029A>G (p.Glu2343=) | gnomAD v4 |
| 1 | g.158612904T>G | CA343011547 | SPTA1 | c.7047A>C (p.Glu2349Asp) n.488A>C n.479A>C c.7029A>C (p.Glu2343Asp) | |
| 1 | g.158612905T>A | CA343011549 | SPTA1 | c.7046A>T (p.Glu2349Val) n.487A>T n.478A>T c.7028A>T (p.Glu2343Val) | |
| 1 | g.158612905T>C | CA343011552 | SPTA1 | c.7046A>G (p.Glu2349Gly) n.487A>G n.478A>G c.7028A>G (p.Glu2343Gly) | gnomAD v4 |
| 1 | g.158612905T>G | CA343011555 | SPTA1 | c.7046A>C (p.Glu2349Ala) n.487A>C n.478A>C c.7028A>C (p.Glu2343Ala) | gnomAD v4 |
| 1 | g.158612906C>A | CA343011557 | SPTA1 | c.7045G>T (p.Glu2349Ter) n.486G>T n.477G>T c.7027G>T (p.Glu2343Ter) | |
| 1 | g.158612906C>G | CA343011559 | SPTA1 | c.7045G>C (p.Glu2349Gln) n.486G>C n.477G>C c.7027G>C (p.Glu2343Gln) | |
| 1 | g.158612906C>T | CA343011561 | SPTA1 | c.7045G>A (p.Glu2349Lys) n.486G>A n.477G>A c.7027G>A (p.Glu2343Lys) | gnomAD v4 |
| 1 | g.158612907T>A | CA421212772 | SPTA1 | c.7044A>T (p.Ser2348=) n.485A>T n.476A>T c.7026A>T (p.Ser2342=) | |
| 1 | g.158612907T>C | CA421212769 | SPTA1 | c.7044A>G (p.Ser2348=) n.485A>G n.476A>G c.7026A>G (p.Ser2342=) | gnomAD v4 COSMIC |
| 1 | g.158612907T>G | CA421212768 | SPTA1 | c.7044A>C (p.Ser2348=) n.485A>C n.476A>C c.7026A>C (p.Ser2342=) | |
| 1 | g.158612908G>A | CA343011564 | SPTA1 | c.7043C>T (p.Ser2348Leu) n.484C>T n.475C>T c.7025C>T (p.Ser2342Leu) | |
| 1 | g.158612908G>C | CA343011567 | SPTA1 | c.7043C>G (p.Ser2348Ter) n.484C>G n.475C>G c.7025C>G (p.Ser2342Ter) | |
| 1 | g.158612908G>T | CA343011569 | SPTA1 | c.7043C>A (p.Ser2348Ter) n.484C>A n.475C>A c.7025C>A (p.Ser2342Ter) | |
| 1 | g.158612909A>C | CA343011570 | SPTA1 | c.7042T>G (p.Ser2348Ala) n.483T>G n.474T>G c.7024T>G (p.Ser2342Ala) | |
| 1 | g.158612909A>G | CA343011576 | SPTA1 | c.7042T>C (p.Ser2348Pro) n.483T>C n.474T>C c.7024T>C (p.Ser2342Pro) | |
| 1 | g.158612909A>T | CA343011573 | SPTA1 | c.7042T>A (p.Ser2348Thr) n.483T>A n.474T>A c.7024T>A (p.Ser2342Thr) | |
| 1 | g.158612910C>A | CA343011579 | SPTA1 | c.7041G>T (p.Glu2347Asp) n.482G>T n.473G>T c.7023G>T (p.Glu2341Asp) | |
| 1 | g.158612910C>G | CA343011581 | SPTA1 | c.7041G>C (p.Glu2347Asp) n.482G>C n.473G>C c.7023G>C (p.Glu2341Asp) | |
| 1 | g.158612910C>T | CA421212788 | SPTA1 | c.7041G>A (p.Glu2347=) n.482G>A n.473G>A c.7023G>A (p.Glu2341=) | dbSNP |
| 1 | g.158612911T>A | CA343011585 | SPTA1 | c.7040A>T (p.Glu2347Val) n.481A>T n.472A>T c.7022A>T (p.Glu2341Val) | gnomAD v4 |
| 1 | g.158612911T>C | CA343011587 | SPTA1 | c.7040A>G (p.Glu2347Gly) n.481A>G n.472A>G c.7022A>G (p.Glu2341Gly) | |
| 1 | g.158612911T>G | CA343011588 | SPTA1 | c.7040A>C (p.Glu2347Ala) n.481A>C n.472A>C c.7022A>C (p.Glu2341Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612911T= | CA1201536934 | SPTA1 | c.7040A= (p.Glu2347=) n.481A= n.472A= c.7022A= (p.Glu2341=) | |
| 1 | g.158612912C>A | CA1181742 | SPTA1 | c.7039G>T (p.Glu2347Ter) n.480G>T n.471G>T c.7021G>T (p.Glu2341Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612912C= | CA1201536935 | SPTA1 | c.7039G= (p.Glu2347=) n.480G= n.471G= c.7021G= (p.Glu2341=) | |
| 1 | g.158612912C>G | CA1181743 | SPTA1 | c.7039G>C (p.Glu2347Gln) n.480G>C n.471G>C c.7021G>C (p.Glu2341Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612912C>T | CA1181741 | SPTA1 | c.7039G>A (p.Glu2347Lys) n.480G>A n.471G>A c.7021G>A (p.Glu2341Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.158612913C>A | CA343011590 | SPTA1 | c.7038G>T (p.Lys2346Asn) n.479G>T n.470G>T c.7020G>T (p.Lys2340Asn) | |
| 1 | g.158612913C>G | CA343011591 | SPTA1 | c.7038G>C (p.Lys2346Asn) n.479G>C n.470G>C c.7020G>C (p.Lys2340Asn) | |
| 1 | g.158612913C>T | CA421212806 | SPTA1 | c.7038G>A (p.Lys2346=) n.479G>A n.470G>A c.7020G>A (p.Lys2340=) | gnomAD v4 |
| 1 | g.158612914T>A | CA343011592 | SPTA1 | c.7037A>T (p.Lys2346Met) n.478A>T n.469A>T c.7019A>T (p.Lys2340Met) | |
| 1 | g.158612914T>C | CA343011594 | SPTA1 | c.7037A>G (p.Lys2346Arg) n.478A>G n.469A>G c.7019A>G (p.Lys2340Arg) | |
| 1 | g.158612914T>G | CA343011596 | SPTA1 | c.7037A>C (p.Lys2346Thr) n.478A>C n.469A>C c.7019A>C (p.Lys2340Thr) | |
| 1 | g.158612915T>A | CA343011599 | SPTA1 | c.7036A>T (p.Lys2346Ter) n.477A>T n.468A>T c.7018A>T (p.Lys2340Ter) | |
| 1 | g.158612915T>C | CA343011604 | SPTA1 | c.7036A>G (p.Lys2346Glu) n.477A>G n.468A>G c.7018A>G (p.Lys2340Glu) | |
| 1 | g.158612915T>G | CA343011601 | SPTA1 | c.7036A>C (p.Lys2346Gln) n.477A>C n.468A>C c.7018A>C (p.Lys2340Gln) | |
| 1 | g.158612916G>A | CA421212827 | SPTA1 | c.7035C>T (p.Asp2345=) n.476C>T n.467C>T c.7017C>T (p.Asp2339=) | |
| 1 | g.158612916G>C | CA343011607 | SPTA1 | c.7035C>G (p.Asp2345Glu) n.476C>G n.467C>G c.7017C>G (p.Asp2339Glu) | COSMIC |
| 1 | g.158612916G>T | CA343011609 | SPTA1 | c.7035C>A (p.Asp2345Glu) n.476C>A n.467C>A c.7017C>A (p.Asp2339Glu) | |
| 1 | g.158612917T>A | CA343011611 | SPTA1 | c.7034A>T (p.Asp2345Val) n.475A>T n.466A>T c.7016A>T (p.Asp2339Val) | |
| 1 | g.158612917T>C | CA343011614 | SPTA1 | c.7034A>G (p.Asp2345Gly) n.475A>G n.466A>G c.7016A>G (p.Asp2339Gly) | dbSNP gnomAD v2 |
| 1 | g.158612917T>G | CA343011616 | SPTA1 | c.7034A>C (p.Asp2345Ala) n.475A>C n.466A>C c.7016A>C (p.Asp2339Ala) | |
| 1 | g.158612917T= | CA1201536936 | SPTA1 | c.7034A= (p.Asp2345=) n.475A= n.466A= c.7016A= (p.Asp2339=) | |
| 1 | g.158612918C>A | CA343011617 | SPTA1 | c.7033G>T (p.Asp2345Tyr) n.474G>T n.465G>T c.7015G>T (p.Asp2339Tyr) | |
| 1 | g.158612918C= | CA1201536937 | SPTA1 | c.7033G= (p.Asp2345=) n.474G= n.465G= c.7015G= (p.Asp2339=) | |
| 1 | g.158612918C>G | CA343011618 | SPTA1 | c.7033G>C (p.Asp2345His) n.474G>C n.465G>C c.7015G>C (p.Asp2339His) | |
| 1 | g.158612918C>T | CA343011619 | SPTA1 | c.7033G>A (p.Asp2345Asn) n.474G>A n.465G>A c.7015G>A (p.Asp2339Asn) | dbSNP |
| 1 | g.158612919A= | CA1142340623 | SPTA1 | c.7032T= (p.Ile2344=) n.473T= n.464T= c.7014T= (p.Ile2338=) | |
| 1 | g.158612919A>C | CA343011620 | SPTA1 | c.7032T>G (p.Ile2344Met) n.473T>G n.464T>G c.7014T>G (p.Ile2338Met) | |
| 1 | g.158612919A>G | CA421212845 | SPTA1 | c.7032T>C (p.Ile2344=) n.473T>C n.464T>C c.7014T>C (p.Ile2338=) | dbSNP |
| 1 | g.158612919A>T | CA1181744 | SPTA1 | c.7032T>A (p.Ile2344=) n.473T>A n.464T>A c.7014T>A (p.Ile2338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612920del | CA2648555640 | SPTA1 | c.7032del (p.Ile2344MetfsTer14) n.473del n.464del c.7014del (p.Ile2338MetfsTer14) | gnomAD v4 |
| 1 | g.158612920A>C | CA343011626 | SPTA1 | c.7031T>G (p.Ile2344Ser) n.472T>G n.463T>G c.7013T>G (p.Ile2338Ser) | |
| 1 | g.158612920A>G | CA343011624 | SPTA1 | c.7031T>C (p.Ile2344Thr) n.472T>C n.463T>C c.7013T>C (p.Ile2338Thr) | gnomAD v4 |
| 1 | g.158612920A>T | CA343011622 | SPTA1 | c.7031T>A (p.Ile2344Asn) n.472T>A n.463T>A c.7013T>A (p.Ile2338Asn) | |
| 1 | g.158612921T>A | CA343011630 | SPTA1 | c.7030A>T (p.Ile2344Phe) n.471A>T n.462A>T c.7012A>T (p.Ile2338Phe) | gnomAD v4 |
| 1 | g.158612921T>C | CA343011627 | SPTA1 | c.7030A>G (p.Ile2344Val) n.471A>G n.462A>G c.7012A>G (p.Ile2338Val) | |
| 1 | g.158612921T>G | CA343011633 | SPTA1 | c.7030A>C (p.Ile2344Leu) n.471A>C n.462A>C c.7012A>C (p.Ile2338Leu) | |
| 1 | g.158612922C>A | CA421212862 | SPTA1 | c.7029G>T (p.Leu2343=) n.470G>T n.461G>T c.7011G>T (p.Leu2337=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612922C= | CA1201536938 | SPTA1 | c.7029G= (p.Leu2343=) n.470G= n.461G= c.7011G= (p.Leu2337=) | |
| 1 | g.158612922C>G | CA421212863 | SPTA1 | c.7029G>C (p.Leu2343=) n.470G>C n.461G>C c.7011G>C (p.Leu2337=) | |
| 1 | g.158612922C>T | CA421212866 | SPTA1 | c.7029G>A (p.Leu2343=) n.470G>A n.461G>A c.7011G>A (p.Leu2337=) | |
| 1 | g.158612923A>C | CA343011635 | SPTA1 | c.7028T>G (p.Leu2343Arg) n.469T>G n.460T>G c.7010T>G (p.Leu2337Arg) | |
| 1 | g.158612923A>G | CA343011637 | SPTA1 | c.7028T>C (p.Leu2343Pro) n.469T>C n.460T>C c.7010T>C (p.Leu2337Pro) | |
| 1 | g.158612923A>T | CA343011639 | SPTA1 | c.7028T>A (p.Leu2343Gln) n.469T>A n.460T>A c.7010T>A (p.Leu2337Gln) | |
| 1 | g.158612924G>A | CA421212875 | SPTA1 | c.7027C>T (p.Leu2343=) n.468C>T n.459C>T c.7009C>T (p.Leu2337=) | |
| 1 | g.158612924G>C | CA343011641 | SPTA1 | c.7027C>G (p.Leu2343Val) n.468C>G n.459C>G c.7009C>G (p.Leu2337Val) | |
| 1 | g.158612924G>T | CA343011643 | SPTA1 | c.7027C>A (p.Leu2343Met) n.468C>A n.459C>A c.7009C>A (p.Leu2337Met) | |
| 1 | g.158612925G>A | CA421212882 | SPTA1 | c.7026C>T (p.Phe2342=) n.467C>T n.458C>T c.7008C>T (p.Phe2336=) | COSMIC |
| 1 | g.158612925G>C | CA343011645 | SPTA1 | c.7026C>G (p.Phe2342Leu) n.467C>G n.458C>G c.7008C>G (p.Phe2336Leu) | |
| 1 | g.158612925G>T | CA343011648 | SPTA1 | c.7026C>A (p.Phe2342Leu) n.467C>A n.458C>A c.7008C>A (p.Phe2336Leu) | |
| 1 | g.158612926A= | CA1201536939 | SPTA1 | c.7025T= (p.Phe2342=) n.466T= n.457T= c.7007T= (p.Phe2336=) | |
| 1 | g.158612926A>C | CA343011650 | SPTA1 | c.7025T>G (p.Phe2342Cys) n.466T>G n.457T>G c.7007T>G (p.Phe2336Cys) | |
| 1 | g.158612926A>G | CA343011652 | SPTA1 | c.7025T>C (p.Phe2342Ser) n.466T>C n.457T>C c.7007T>C (p.Phe2336Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612926A>T | CA343011655 | SPTA1 | c.7025T>A (p.Phe2342Tyr) n.466T>A n.457T>A c.7007T>A (p.Phe2336Tyr) | |
| 1 | g.158612927A= | CA1201536940 | SPTA1 | c.7024T= (p.Phe2342=) n.465T= n.456T= c.7006T= (p.Phe2336=) | |
| 1 | g.158612927A>C | CA343011658 | SPTA1 | c.7024T>G (p.Phe2342Val) n.465T>G n.456T>G c.7006T>G (p.Phe2336Val) | |
| 1 | g.158612927A>G | CA1181745 | SPTA1 | c.7024T>C (p.Phe2342Leu) n.465T>C n.456T>C c.7006T>C (p.Phe2336Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612927A>T | CA343011661 | SPTA1 | c.7024T>A (p.Phe2342Ile) n.465T>A n.456T>A c.7006T>A (p.Phe2336Ile) | |
| 1 | g.158612928A= | CA1144202187 | SPTA1 | c.7023T= (p.Ala2341=) n.464T= n.455T= c.7005T= (p.Ala2335=) | |
| 1 | g.158612928A>C | CA421212900 | SPTA1 | c.7023T>G (p.Ala2341=) n.464T>G n.455T>G c.7005T>G (p.Ala2335=) | |
| 1 | g.158612928A>G | CA31250645 | SPTA1 | c.7023T>C (p.Ala2341=) n.464T>C n.455T>C c.7005T>C (p.Ala2335=) | dbSNP gnomAD v4 |
| 1 | g.158612928A>T | CA421212904 | SPTA1 | c.7023T>A (p.Ala2341=) n.464T>A n.455T>A c.7005T>A (p.Ala2335=) | |
| 1 | g.158612929G>A | CA343011665 | SPTA1 | c.7022C>T (p.Ala2341Val) n.463C>T n.454C>T c.7004C>T (p.Ala2335Val) | |
| 1 | g.158612929G>C | CA343011666 | SPTA1 | c.7022C>G (p.Ala2341Gly) n.463C>G n.454C>G c.7004C>G (p.Ala2335Gly) | |
| 1 | g.158612929G>T | CA343011669 | SPTA1 | c.7022C>A (p.Ala2341Asp) n.463C>A n.454C>A c.7004C>A (p.Ala2335Asp) | |
| 1 | g.158612930C>A | CA343011672 | SPTA1 | c.7021G>T (p.Ala2341Ser) n.462G>T n.453G>T c.7003G>T (p.Ala2335Ser) | |
| 1 | g.158612930C>G | CA343011673 | SPTA1 | c.7021G>C (p.Ala2341Pro) n.462G>C n.453G>C c.7003G>C (p.Ala2335Pro) | |
| 1 | g.158612930C>T | CA343011674 | SPTA1 | c.7021G>A (p.Ala2341Thr) n.462G>A n.453G>A c.7003G>A (p.Ala2335Thr) | |
| 1 | g.158612931A>C | CA421212919 | SPTA1 | c.7020T>G (p.Thr2340=) n.461T>G n.452T>G c.7002T>G (p.Thr2334=) | |
| 1 | g.158612931A>G | CA421212921 | SPTA1 | c.7020T>C (p.Thr2340=) n.461T>C n.452T>C c.7002T>C (p.Thr2334=) | gnomAD v4 |
| 1 | g.158612931A>T | CA421212924 | SPTA1 | c.7020T>A (p.Thr2340=) n.461T>A n.452T>A c.7002T>A (p.Thr2334=) | |
| 1 | g.158612932G>A | CA343011675 | SPTA1 | c.7019C>T (p.Thr2340Ile) n.460C>T n.451C>T c.7001C>T (p.Thr2334Ile) | gnomAD v4 |
| 1 | g.158612932G>C | CA1181746 | SPTA1 | c.7019C>G (p.Thr2340Ser) n.460C>G n.451C>G c.7001C>G (p.Thr2334Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612932G= | CA1148271467 | SPTA1 | c.7019C= (p.Thr2340=) n.460C= n.451C= c.7001C= (p.Thr2334=) | |
| 1 | g.158612932G>T | CA343011677 | SPTA1 | c.7019C>A (p.Thr2340Asn) n.460C>A n.451C>A c.7001C>A (p.Thr2334Asn) | |
| 1 | g.158612933T>A | CA343011678 | SPTA1 | c.7018A>T (p.Thr2340Ser) n.459A>T n.450A>T c.7000A>T (p.Thr2334Ser) | |
| 1 | g.158612933T>C | CA343011679 | SPTA1 | c.7018A>G (p.Thr2340Ala) n.459A>G n.450A>G c.7000A>G (p.Thr2334Ala) | gnomAD v4 |
| 1 | g.158612933T>G | CA343011681 | SPTA1 | c.7018A>C (p.Thr2340Pro) n.459A>C n.450A>C c.7000A>C (p.Thr2334Pro) | |
| 1 | g.158612934A>C | CA343011683 | SPTA1 | c.7017T>G (p.Tyr2339Ter) n.458T>G n.449T>G c.6999T>G (p.Tyr2333Ter) | |
| 1 | g.158612934A>G | CA421212941 | SPTA1 | c.7017T>C (p.Tyr2339=) n.458T>C n.449T>C c.6999T>C (p.Tyr2333=) | gnomAD v4 |
| 1 | g.158612934A>T | CA343011685 | SPTA1 | c.7017T>A (p.Tyr2339Ter) n.458T>A n.449T>A c.6999T>A (p.Tyr2333Ter) | |
| 1 | g.158612935T>A | CA343011688 | SPTA1 | c.7016A>T (p.Tyr2339Phe) n.457A>T n.448A>T c.6998A>T (p.Tyr2333Phe) | |
| 1 | g.158612935T>C | CA343011691 | SPTA1 | c.7016A>G (p.Tyr2339Cys) n.457A>G n.448A>G c.6998A>G (p.Tyr2333Cys) | ClinVar |
| 1 | g.158612935T>G | CA343011689 | SPTA1 | c.7016A>C (p.Tyr2339Ser) n.457A>C n.448A>C c.6998A>C (p.Tyr2333Ser) | gnomAD v4 |
| 1 | g.158612936A>C | CA343011693 | SPTA1 | c.7015T>G (p.Tyr2339Asp) n.456T>G n.447T>G c.6997T>G (p.Tyr2333Asp) | |
| 1 | g.158612936A>G | CA343011695 | SPTA1 | c.7015T>C (p.Tyr2339His) n.456T>C n.447T>C c.6997T>C (p.Tyr2333His) | |
| 1 | g.158612936A>T | CA343011698 | SPTA1 | c.7015T>A (p.Tyr2339Asn) n.456T>A n.447T>A c.6997T>A (p.Tyr2333Asn) | |
| 1 | g.158612937G>A | CA421212957 | SPTA1 | c.7014C>T (p.Asp2338=) n.455C>T n.446C>T c.6996C>T (p.Asp2332=) | |
| 1 | g.158612937G>C | CA343011701 | SPTA1 | c.7014C>G (p.Asp2338Glu) n.455C>G n.446C>G c.6996C>G (p.Asp2332Glu) | |
| 1 | g.158612937G>T | CA343011702 | SPTA1 | c.7014C>A (p.Asp2338Glu) n.455C>A n.446C>A c.6996C>A (p.Asp2332Glu) | |
| 1 | g.158612938T>A | CA343011706 | SPTA1 | c.7013A>T (p.Asp2338Val) n.454A>T n.445A>T c.6995A>T (p.Asp2332Val) | |
| 1 | g.158612938T>C | CA343011709 | SPTA1 | c.7013A>G (p.Asp2338Gly) n.454A>G n.445A>G c.6995A>G (p.Asp2332Gly) | dbSNP gnomAD v4 |
| 1 | g.158612938T>G | CA343011710 | SPTA1 | c.7013A>C (p.Asp2338Ala) n.454A>C n.445A>C c.6995A>C (p.Asp2332Ala) | |
| 1 | g.158612938T= | CA1201536941 | SPTA1 | c.7013A= (p.Asp2338=) n.454A= n.445A= c.6995A= (p.Asp2332=) | |
| 1 | g.158612939C>A | CA343011713 | SPTA1 | c.7012G>T (p.Asp2338Tyr) n.453G>T n.444G>T c.6994G>T (p.Asp2332Tyr) | gnomAD v4 |
| 1 | g.158612939C= | CA1201536942 | SPTA1 | c.7012G= (p.Asp2338=) n.453G= n.444G= c.6994G= (p.Asp2332=) | |
| 1 | g.158612939C>G | CA343011715 | SPTA1 | c.7012G>C (p.Asp2338His) n.453G>C n.444G>C c.6994G>C (p.Asp2332His) | |
| 1 | g.158612939C>T | CA343011717 | SPTA1 | c.7012G>A (p.Asp2338Asn) n.453G>A n.444G>A c.6994G>A (p.Asp2332Asn) | dbSNP gnomAD v4 |
| 1 | g.158612940C>A | CA343011720 | SPTA1 | c.7011G>T (p.Glu2337Asp) n.452G>T n.443G>T c.6993G>T (p.Glu2331Asp) | |
| 1 | g.158612940C>G | CA343011723 | SPTA1 | c.7011G>C (p.Glu2337Asp) n.452G>C n.443G>C c.6993G>C (p.Glu2331Asp) | |
| 1 | g.158612940C>T | CA421212979 | SPTA1 | c.7011G>A (p.Glu2337=) n.452G>A n.443G>A c.6993G>A (p.Glu2331=) | gnomAD v4 |
| 1 | g.158612941T>A | CA343011730 | SPTA1 | c.7010A>T (p.Glu2337Val) n.451A>T n.442A>T c.6992A>T (p.Glu2331Val) | COSMIC |
| 1 | g.158612941T>C | CA343011726 | SPTA1 | c.7010A>G (p.Glu2337Gly) n.451A>G n.442A>G c.6992A>G (p.Glu2331Gly) | |
| 1 | g.158612941T>G | CA343011728 | SPTA1 | c.7010A>C (p.Glu2337Ala) n.451A>C n.442A>C c.6992A>C (p.Glu2331Ala) | gnomAD v4 |
| 1 | g.158612942C>A | CA343011732 | SPTA1 | c.7009G>T (p.Glu2337Ter) n.450G>T n.441G>T c.6991G>T (p.Glu2331Ter) | |
| 1 | g.158612942C= | CA1201536943 | SPTA1 | c.7009G= (p.Glu2337=) n.450G= n.441G= c.6991G= (p.Glu2331=) | |
| 1 | g.158612942C>G | CA343011734 | SPTA1 | c.7009G>C (p.Glu2337Gln) n.450G>C n.441G>C c.6991G>C (p.Glu2331Gln) | |
| 1 | g.158612942C>T | CA343011735 | SPTA1 | c.7009G>A (p.Glu2337Lys) n.450G>A n.441G>A c.6991G>A (p.Glu2331Lys) | dbSNP gnomAD v4 |
| 1 | g.158612943C>A | CA421213000 | SPTA1 | c.7008G>T (p.Leu2336=) n.449G>T n.440G>T c.6990G>T (p.Leu2330=) | |
| 1 | g.158612943C= | CA1201536944 | SPTA1 | c.7008G= (p.Leu2336=) n.449G= n.440G= c.6990G= (p.Leu2330=) | |
| 1 | g.158612943C>G | CA421213002 | SPTA1 | c.7008G>C (p.Leu2336=) n.449G>C n.440G>C c.6990G>C (p.Leu2330=) | |
| 1 | g.158612943C>T | CA1181747 | SPTA1 | c.7008G>A (p.Leu2336=) n.449G>A n.440G>A c.6990G>A (p.Leu2330=) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.158612944A>C | CA343011737 | SPTA1 | c.7007T>G (p.Leu2336Arg) n.448T>G n.439T>G c.6989T>G (p.Leu2330Arg) | |
| 1 | g.158612944A>G | CA343011739 | SPTA1 | c.7007T>C (p.Leu2336Pro) n.448T>C n.439T>C c.6989T>C (p.Leu2330Pro) | |
| 1 | g.158612944A>T | CA343011741 | SPTA1 | c.7007T>A (p.Leu2336Gln) n.448T>A n.439T>A c.6989T>A (p.Leu2330Gln) | gnomAD v4 |
| 1 | g.158612945G>A | CA421213011 | SPTA1 | c.7006C>T (p.Leu2336=) n.447C>T n.438C>T c.6988C>T (p.Leu2330=) | |
| 1 | g.158612945G>C | CA343011742 | SPTA1 | c.7006C>G (p.Leu2336Val) n.447C>G n.438C>G c.6988C>G (p.Leu2330Val) | |
| 1 | g.158612945G>T | CA343011745 | SPTA1 | c.7006C>A (p.Leu2336Met) n.447C>A n.438C>A c.6988C>A (p.Leu2330Met) | |
| 1 | g.158612946T>A | CA421213017 | SPTA1 | c.7005A>T (p.Ser2335=) n.446A>T n.437A>T c.6987A>T (p.Ser2329=) | |
| 1 | g.158612946T>C | CA421213019 | SPTA1 | c.7005A>G (p.Ser2335=) n.446A>G n.437A>G c.6987A>G (p.Ser2329=) | |
| 1 | g.158612946T>G | CA421213021 | SPTA1 | c.7005A>C (p.Ser2335=) n.446A>C n.437A>C c.6987A>C (p.Ser2329=) | |
| 1 | g.158612947G>A | CA343011746 | SPTA1 | c.7004C>T (p.Ser2335Leu) n.445C>T n.436C>T c.6986C>T (p.Ser2329Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612947G>C | CA343011748 | SPTA1 | c.7004C>G (p.Ser2335Ter) n.445C>G n.436C>G c.6986C>G (p.Ser2329Ter) | |
| 1 | g.158612947G= | CA1201536945 | SPTA1 | c.7004C= (p.Ser2335=) n.445C= n.436C= c.6986C= (p.Ser2329=) | |
| 1 | g.158612947G>T | CA343011749 | SPTA1 | c.7004C>A (p.Ser2335Ter) n.445C>A n.436C>A c.6986C>A (p.Ser2329Ter) | |
| 1 | g.158612948A>C | CA343011753 | SPTA1 | c.7003T>G (p.Ser2335Ala) n.444T>G n.435T>G c.6985T>G (p.Ser2329Ala) | |
| 1 | g.158612948A>G | CA343011751 | SPTA1 | c.7003T>C (p.Ser2335Pro) n.444T>C n.435T>C c.6985T>C (p.Ser2329Pro) | |
| 1 | g.158612948A>T | CA343011750 | SPTA1 | c.7003T>A (p.Ser2335Thr) n.444T>A n.435T>A c.6985T>A (p.Ser2329Thr) | |
| 1 | g.158612949G>A | CA421213038 | SPTA1 | c.7002C>T (p.Val2334=) n.443C>T n.434C>T c.6984C>T (p.Val2328=) | |
| 1 | g.158612949G>C | CA421213040 | SPTA1 | c.7002C>G (p.Val2334=) n.443C>G n.434C>G c.6984C>G (p.Val2328=) | |
| 1 | g.158612949G>T | CA421213042 | SPTA1 | c.7002C>A (p.Val2334=) n.443C>A n.434C>A c.6984C>A (p.Val2328=) | |
| 1 | g.158612950A>C | CA343011755 | SPTA1 | c.7001T>G (p.Val2334Gly) n.442T>G n.433T>G c.6983T>G (p.Val2328Gly) | |
| 1 | g.158612950A>G | CA343011759 | SPTA1 | c.7001T>C (p.Val2334Ala) n.442T>C n.433T>C c.6983T>C (p.Val2328Ala) | |
| 1 | g.158612950A>T | CA343011758 | SPTA1 | c.7001T>A (p.Val2334Asp) n.442T>A n.433T>A c.6983T>A (p.Val2328Asp) | |
| 1 | g.158612951C>A | CA343011760 | SPTA1 | c.7000G>T (p.Val2334Phe) n.441G>T n.432G>T c.6982G>T (p.Val2328Phe) | |
| 1 | g.158612951C>G | CA343011761 | SPTA1 | c.7000G>C (p.Val2334Leu) n.441G>C n.432G>C c.6982G>C (p.Val2328Leu) | |
| 1 | g.158612951C>T | CA343011763 | SPTA1 | c.7000G>A (p.Val2334Ile) n.441G>A n.432G>A c.6982G>A (p.Val2328Ile) | |
| 1 | g.158612952A= | CA1201536946 | SPTA1 | c.6999T= (p.Tyr2333=) n.440T= n.431T= c.6981T= (p.Tyr2327=) | |
| 1 | g.158612952A>C | CA343011765 | SPTA1 | c.6999T>G (p.Tyr2333Ter) n.440T>G n.431T>G c.6981T>G (p.Tyr2327Ter) | |
| 1 | g.158612952A>G | CA31250669 | SPTA1 | c.6999T>C (p.Tyr2333=) n.440T>C n.431T>C c.6981T>C (p.Tyr2327=) | dbSNP gnomAD v4 |
| 1 | g.158612952A>T | CA343011766 | SPTA1 | c.6999T>A (p.Tyr2333Ter) n.440T>A n.431T>A c.6981T>A (p.Tyr2327Ter) | |
| 1 | g.158612953T>A | CA343011769 | SPTA1 | c.6998A>T (p.Tyr2333Phe) n.439A>T n.430A>T c.6980A>T (p.Tyr2327Phe) | |
| 1 | g.158612953T>C | CA343011770 | SPTA1 | c.6998A>G (p.Tyr2333Cys) n.439A>G n.430A>G c.6980A>G (p.Tyr2327Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612953T>G | CA343011776 | SPTA1 | c.6998A>C (p.Tyr2333Ser) n.439A>C n.430A>C c.6980A>C (p.Tyr2327Ser) | |
| 1 | g.158612953T= | CA1201536947 | SPTA1 | c.6998A= (p.Tyr2333=) n.439A= n.430A= c.6980A= (p.Tyr2327=) | |
| 1 | g.158612954A>C | CA343011778 | SPTA1 | c.6997T>G (p.Tyr2333Asp) n.438T>G n.429T>G c.6979T>G (p.Tyr2327Asp) | |
| 1 | g.158612954A>G | CA343011782 | SPTA1 | c.6997T>C (p.Tyr2333His) n.438T>C n.429T>C c.6979T>C (p.Tyr2327His) | COSMIC |
| 1 | g.158612954A>T | CA343011780 | SPTA1 | c.6997T>A (p.Tyr2333Asn) n.438T>A n.429T>A c.6979T>A (p.Tyr2327Asn) | |
| 1 | g.158612955G>A | CA1181748 | SPTA1 | c.6996C>T (p.Gly2332=) n.437C>T n.428C>T c.6978C>T (p.Gly2326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.158612955G>C | CA421213078 | SPTA1 | c.6996C>G (p.Gly2332=) n.437C>G n.428C>G c.6978C>G (p.Gly2326=) | |
| 1 | g.158612955G= | CA1146148619 | SPTA1 | c.6996C= (p.Gly2332=) n.437C= n.428C= c.6978C= (p.Gly2326=) | |
| 1 | g.158612955G>T | CA421213081 | SPTA1 | c.6996C>A (p.Gly2332=) n.437C>A n.428C>A c.6978C>A (p.Gly2326=) | |
| 1 | g.158612956C>A | CA343011785 | SPTA1 | c.6995G>T (p.Gly2332Val) n.436G>T n.427G>T c.6977G>T (p.Gly2326Val) | |
| 1 | g.158612956C= | CA1201536948 | SPTA1 | c.6995G= (p.Gly2332=) n.436G= n.427G= c.6977G= (p.Gly2326=) | |
| 1 | g.158612956C>G | CA343011786 | SPTA1 | c.6995G>C (p.Gly2332Ala) n.436G>C n.427G>C c.6977G>C (p.Gly2326Ala) | |
| 1 | g.158612956C>T | CA343011788 | SPTA1 | c.6995G>A (p.Gly2332Asp) n.436G>A n.427G>A c.6977G>A (p.Gly2326Asp) | dbSNP gnomAD v4 |
| 1 | g.158612957C>A | CA343011790 | SPTA1 | c.6994G>T (p.Gly2332Cys) n.435G>T n.426G>T c.6976G>T (p.Gly2326Cys) | |
| 1 | g.158612957C>G | CA343011794 | SPTA1 | c.6994G>C (p.Gly2332Arg) n.435G>C n.426G>C c.6976G>C (p.Gly2326Arg) | |
| 1 | g.158612957C>T | CA343011792 | SPTA1 | c.6994G>A (p.Gly2332Ser) n.435G>A n.426G>A c.6976G>A (p.Gly2326Ser) | COSMIC |
| 1 | g.158612958C>A | CA343011795 | SPTA1 | c.6993G>T (p.Lys2331Asn) n.434G>T n.425G>T c.6975G>T (p.Lys2325Asn) | |
| 1 | g.158612958C= | CA1201536949 | SPTA1 | c.6993G= (p.Lys2331=) n.434G= n.425G= c.6975G= (p.Lys2325=) | |
| 1 | g.158612958C>G | CA343011797 | SPTA1 | c.6993G>C (p.Lys2331Asn) n.434G>C n.425G>C c.6975G>C (p.Lys2325Asn) | |
| 1 | g.158612958C>T | CA31250673 | SPTA1 | c.6993G>A (p.Lys2331=) n.434G>A n.425G>A c.6975G>A (p.Lys2325=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.158612959T>A | CA343011801 | SPTA1 | c.6992A>T (p.Lys2331Met) n.433A>T n.424A>T c.6974A>T (p.Lys2325Met) | |
| 1 | g.158612959T>C | CA343011803 | SPTA1 | c.6992A>G (p.Lys2331Arg) n.433A>G n.424A>G c.6974A>G (p.Lys2325Arg) | COSMIC |
| 1 | g.158612959T>G | CA343011805 | SPTA1 | c.6992A>C (p.Lys2331Thr) n.433A>C n.424A>C c.6974A>C (p.Lys2325Thr) | |
| 1 | g.158612960T>A | CA343011807 | SPTA1 | c.6991A>T (p.Lys2331Ter) n.432A>T n.423A>T c.6973A>T (p.Lys2325Ter) | |
| 1 | g.158612960T>C | CA1181749 | SPTA1 | c.6991A>G (p.Lys2331Glu) n.432A>G n.423A>G c.6973A>G (p.Lys2325Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612960T>G | CA343011809 | SPTA1 | c.6991A>C (p.Lys2331Gln) n.432A>C n.423A>C c.6973A>C (p.Lys2325Gln) | |
| 1 | g.158612960T= | CA1148458199 | SPTA1 | c.6991A= (p.Lys2331=) n.432A= n.423A= c.6973A= (p.Lys2325=) | |
| 1 | g.158612961C>A | CA343011812 | SPTA1 | c.6990G>T (p.Arg2330Ser) n.431G>T n.422G>T c.6972G>T (p.Arg2324Ser) | |
| 1 | g.158612961C= | CA1201536950 | SPTA1 | c.6990G= (p.Arg2330=) n.431G= n.422G= c.6972G= (p.Arg2324=) | |
| 1 | g.158612961C>G | CA343011814 | SPTA1 | c.6990G>C (p.Arg2330Ser) n.431G>C n.422G>C c.6972G>C (p.Arg2324Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612961C>T | CA421213118 | SPTA1 | c.6990G>A (p.Arg2330=) n.431G>A n.422G>A c.6972G>A (p.Arg2324=) | gnomAD v4 |
| 1 | g.158612962C>A | CA343011817 | SPTA1 | c.6990-1G>T (n.6990-1G>T) n.431-1G>T n.422-1G>T c.6972-1G>T (n.6972-1G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612962C= | CA1201536951 | SPTA1 | c.6990-1G= (n.6990-1G=) n.431-1G= n.422-1G= c.6972-1G= (n.6972-1G=) | |
| 1 | g.158612962C>G | CA343011821 | SPTA1 | c.6990-1G>C (n.6990-1G>C) n.431-1G>C n.422-1G>C c.6972-1G>C (n.6972-1G>C) | |
| 1 | g.158612962C>T | CA343011819 | SPTA1 | c.6990-1G>A (n.6990-1G>A) n.431-1G>A n.422-1G>A c.6972-1G>A (n.6972-1G>A) | |
| 1 | g.158612963T>A | CA343011823 | SPTA1 | c.6990-2A>T (n.6990-2A>T) n.431-2A>T n.422-2A>T c.6972-2A>T (n.6972-2A>T) | COSMIC |
| 1 | g.158612963T>C | CA343011826 | SPTA1 | c.6990-2A>G (n.6990-2A>G) n.431-2A>G n.422-2A>G c.6972-2A>G (n.6972-2A>G) | |
| 1 | g.158612963T>G | CA343011828 | SPTA1 | c.6990-2A>C (n.6990-2A>C) n.431-2A>C n.422-2A>C c.6972-2A>C (n.6972-2A>C) | |
| 1 | g.158612964G>A | CA1201536952 | SPTA1 | c.6990-3C>T (n.6990-3C>T) n.431-3C>T n.422-3C>T c.6972-3C>T (n.6972-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612964G>C | CA526546871 | SPTA1 | c.6990-3C>G (n.6990-3C>G) n.431-3C>G n.422-3C>G c.6972-3C>G (n.6972-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612964G= | CA1201536953 | SPTA1 | c.6990-3C= (n.6990-3C=) n.431-3C= n.422-3C= c.6972-3C= (n.6972-3C=) | |
| 1 | g.158612965T>C | CA2648555641 | SPTA1 | c.6990-4A>G (n.6990-4A>G) n.431-4A>G n.422-4A>G c.6972-4A>G (n.6972-4A>G) | gnomAD v4 |
| 1 | g.158612966G>A | CA526546872 | SPTA1 | c.6990-5C>T (n.6990-5C>T) n.431-5C>T n.422-5C>T c.6972-5C>T (n.6972-5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612966G= | CA1201536954 | SPTA1 | c.6990-5C= (n.6990-5C=) n.431-5C= n.422-5C= c.6972-5C= (n.6972-5C=) | |
| 1 | g.158612967G>A | CA2573929284 | SPTA1 | c.6990-6C>T (n.6990-6C>T) n.431-6C>T n.422-6C>T c.6972-6C>T (n.6972-6C>T) | gnomAD v4 |
| 1 | g.158612968G>A | CA1181750 | SPTA1 | c.6990-7C>T (n.6990-7C>T) n.431-7C>T n.422-7C>T c.6972-7C>T (n.6972-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612968G= | CA1201536955 | SPTA1 | c.6990-7C= (n.6990-7C=) n.431-7C= n.422-7C= c.6972-7C= (n.6972-7C=) | |
| 1 | g.158612970G= | CA1201536956 | SPTA1 | c.6990-9C= (n.6990-9C=) n.431-9C= n.422-9C= c.6972-9C= (n.6972-9C=) | |
| 1 | g.158612970G>T | CA1181751 | SPTA1 | c.6990-9C>A (n.6990-9C>A) n.431-9C>A n.422-9C>A c.6972-9C>A (n.6972-9C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612973A= | CA1201536957 | SPTA1 | c.6990-12T= (n.6990-12T=) n.431-12T= n.422-12T= c.6972-12T= (n.6972-12T=) | |
| 1 | g.158612973A>G | CA526546873 | SPTA1 | c.6990-12T>C (n.6990-12T>C) n.431-12T>C n.422-12T>C c.6972-12T>C (n.6972-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612974T>C | CA1181752 | SPTA1 | c.6990-13A>G (n.6990-13A>G) n.431-13A>G n.422-13A>G c.6972-13A>G (n.6972-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.158612974T= | CA1201536958 | SPTA1 | c.6990-13A= (n.6990-13A=) n.431-13A= n.422-13A= c.6972-13A= (n.6972-13A=) | |
| 1 | g.158612975G>C | CA1181753 | SPTA1 | c.6990-14C>G (n.6990-14C>G) n.431-14C>G n.422-14C>G c.6972-14C>G (n.6972-14C>G) | dbSNP ExAC |
| 1 | g.158612975G= | CA1201536959 | SPTA1 | c.6990-14C= (n.6990-14C=) n.431-14C= n.422-14C= c.6972-14C= (n.6972-14C=) | |
| 1 | g.158612976G= | CA1201536960 | SPTA1 | c.6990-15C= (n.6990-15C=) n.431-15C= n.422-15C= c.6972-15C= (n.6972-15C=) | |
| 1 | g.158612976G>T | CA1181754 | SPTA1 | c.6990-15C>A (n.6990-15C>A) n.431-15C>A n.422-15C>A c.6972-15C>A (n.6972-15C>A) | dbSNP ExAC gnomAD v2 |
| 1 | g.158612979C= | CA1201536961 | SPTA1 | c.6990-18G= (n.6990-18G=) n.431-18G= n.422-18G= c.6972-18G= (n.6972-18G=) | |
| 1 | g.158612979C>T | CA526546874 | SPTA1 | c.6990-18G>A (n.6990-18G>A) n.431-18G>A n.422-18G>A c.6972-18G>A (n.6972-18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158612981G>A | CA889965967 | SPTA1 | c.6990-20C>T (n.6990-20C>T) n.431-20C>T n.422-20C>T c.6972-20C>T (n.6972-20C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.158612981G>C | CA2740190169 | SPTA1 | c.6990-20C>G (n.6990-20C>G) n.431-20C>G n.422-20C>G c.6972-20C>G (n.6972-20C>G) | |
| 1 | g.158612981G= | CA1201536962 | SPTA1 | c.6990-20C= (n.6990-20C=) n.431-20C= n.422-20C= c.6972-20C= (n.6972-20C=) | |
| 1 | g.158612982G>A | CA526546875 | SPTA1 | c.6990-21C>T (n.6990-21C>T) n.431-21C>T n.422-21C>T c.6972-21C>T (n.6972-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.158612982G= | CA1201536963 | SPTA1 | c.6990-21C= (n.6990-21C=) n.431-21C= n.422-21C= c.6972-21C= (n.6972-21C=) |