| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.15930677_15930681delinsTAAAG | CA1155574296 | SPEN | c.*5288_*5292delinsTAAAG (n.*5288_*5292delinsTAAAG) c.34_38delinsTAAAG c.4437_4441delinsTAAAG (p.Asp1479=) | |
| 1 | g.15930681_15930684del | CA645512405 | SPEN | c.*5292_*5295del (n.*5292_*5295del) c.38_41del c.4441_4444del (p.Glu1481ArgfsTer14) | dbSNP COSMIC |
| 1 | g.15930681G>A | CA18278215 | SPEN | c.*5292G>A (n.*5292G>A) c.38G>A c.4441G>A (p.Glu1481Lys) | dbSNP COSMIC |
| 1 | g.15930681G>C | CA338614460 | SPEN | c.*5292G>C (n.*5292G>C) c.38G>C c.4441G>C (p.Glu1481Gln) | |
| 1 | g.15930681G= | CA1142071958 | SPEN | c.*5292G= (n.*5292G=) c.38G= c.4441G= (p.Glu1481=) | |
| 1 | g.15930681G>T | CA338614462 | SPEN | c.*5292G>T (n.*5292G>T) c.38G>T c.4441G>T (p.Glu1481Ter) | |
| 1 | g.15930682A>C | CA338614465 | SPEN | c.*5293A>C (n.*5293A>C) c.39A>C c.4442A>C (p.Glu1481Ala) | |
| 1 | g.15930682A>G | CA338614467 | SPEN | c.*5293A>G (n.*5293A>G) c.39A>G c.4442A>G (p.Glu1481Gly) | |
| 1 | g.15930682A>T | CA338614468 | SPEN | c.*5293A>T (n.*5293A>T) c.39A>T c.4442A>T (p.Glu1481Val) | |
| 1 | g.15930683A= | CA1155574302 | SPEN | c.*5294A= (n.*5294A=) c.40A= c.4443A= (p.Glu1481=) | |
| 1 | g.15930683A>C | CA338614473 | SPEN | c.*5294A>C (n.*5294A>C) c.40A>C c.4443A>C (p.Glu1481Asp) | |
| 1 | g.15930683A>G | CA18278216 | SPEN | c.*5294A>G (n.*5294A>G) c.40A>G c.4443A>G (p.Glu1481=) | dbSNP |
| 1 | g.15930683A>T | CA338614478 | SPEN | c.*5294A>T (n.*5294A>T) c.40A>T c.4443A>T (p.Glu1481Asp) | |
| 1 | g.15930684A>C | CA338614482 | SPEN | c.*5295A>C (n.*5295A>C) c.41A>C c.4444A>C (p.Lys1482Gln) | |
| 1 | g.15930684A>G | CA338614492 | SPEN | c.*5295A>G (n.*5295A>G) c.41A>G c.4444A>G (p.Lys1482Glu) | |
| 1 | g.15930684A>T | CA338614494 | SPEN | c.*5295A>T (n.*5295A>T) c.41A>T c.4444A>T (p.Lys1482Ter) | |
| 1 | g.15930685A>C | CA338614504 | SPEN | c.*5296A>C (n.*5296A>C) c.42A>C c.4445A>C (p.Lys1482Thr) | |
| 1 | g.15930685A>G | CA338614501 | SPEN | c.*5296A>G (n.*5296A>G) c.42A>G c.4445A>G (p.Lys1482Arg) | |
| 1 | g.15930685A>T | CA338614497 | SPEN | c.*5296A>T (n.*5296A>T) c.42A>T c.4445A>T (p.Lys1482Met) | |
| 1 | g.15930685_15930686insTA | CA2643540722 | SPEN | c.*5296_*5297insTA (n.*5296_*5297insTA) c.42_43insTA c.4445_4446insTA (p.Lys1482AsnfsTer15) | gnomAD v4 |
| 1 | g.15930686G>A | CA416380178 | SPEN | c.*5297G>A (n.*5297G>A) c.43G>A c.4446G>A (p.Lys1482=) | |
| 1 | g.15930686G>C | CA338614515 | SPEN | c.*5297G>C (n.*5297G>C) c.43G>C c.4446G>C (p.Lys1482Asn) | |
| 1 | g.15930686G>T | CA338614524 | SPEN | c.*5297G>T (n.*5297G>T) c.43G>T c.4446G>T (p.Lys1482Asn) | gnomAD v4 |
| 1 | g.15930687G>A | CA18278218 | SPEN | c.*5298G>A (n.*5298G>A) c.44G>A c.4447G>A (p.Val1483Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.15930687G>C | CA338614534 | SPEN | c.*5298G>C (n.*5298G>C) c.44G>C c.4447G>C (p.Val1483Leu) | |
| 1 | g.15930687G= | CA1155574306 | SPEN | c.*5298G= (n.*5298G=) c.44G= c.4447G= (p.Val1483=) | |
| 1 | g.15930687G>T | CA338614559 | SPEN | c.*5298G>T (n.*5298G>T) c.44G>T c.4447G>T (p.Val1483Phe) | |
| 1 | g.15930688T>A | CA338614566 | SPEN | c.*5299T>A (n.*5299T>A) c.45T>A c.4448T>A (p.Val1483Asp) | |
| 1 | g.15930688T>C | CA338614568 | SPEN | c.*5299T>C (n.*5299T>C) c.45T>C c.4448T>C (p.Val1483Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930688T>G | CA338614570 | SPEN | c.*5299T>G (n.*5299T>G) c.45T>G c.4448T>G (p.Val1483Gly) | |
| 1 | g.15930688T= | CA1155574311 | SPEN | c.*5299T= (n.*5299T=) c.45T= c.4448T= (p.Val1483=) | |
| 1 | g.15930689_15930693del | CA2643540723 | SPEN | c.*5300_*5304del (n.*5300_*5304del) c.46_50del c.4449_4453del (p.Asp1484CysfsTer16) | gnomAD v4 |
| 1 | g.15930689T>A | CA416380183 | SPEN | c.*5300T>A (n.*5300T>A) c.46T>A c.4449T>A (p.Val1483=) | |
| 1 | g.15930689T>C | CA416380186 | SPEN | c.*5300T>C (n.*5300T>C) c.46T>C c.4449T>C (p.Val1483=) | |
| 1 | g.15930689T>G | CA416380185 | SPEN | c.*5300T>G (n.*5300T>G) c.46T>G c.4449T>G (p.Val1483=) | |
| 1 | g.15930690G>A | CA619578 | SPEN | c.*5301G>A (n.*5301G>A) c.47G>A c.4450G>A (p.Asp1484Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.15930690G>C | CA338614578 | SPEN | c.*5301G>C (n.*5301G>C) c.47G>C c.4450G>C (p.Asp1484His) | |
| 1 | g.15930690G= | CA1155574319 | SPEN | c.*5301G= (n.*5301G=) c.47G= c.4450G= (p.Asp1484=) | |
| 1 | g.15930690G>T | CA338614580 | SPEN | c.*5301G>T (n.*5301G>T) c.47G>T c.4450G>T (p.Asp1484Tyr) | |
| 1 | g.15930691A>C | CA338614584 | SPEN | c.*5302A>C (n.*5302A>C) c.48A>C c.4451A>C (p.Asp1484Ala) | |
| 1 | g.15930691A>G | CA338614585 | SPEN | c.*5302A>G (n.*5302A>G) c.48A>G c.4451A>G (p.Asp1484Gly) | |
| 1 | g.15930691A>T | CA338614589 | SPEN | c.*5302A>T (n.*5302A>T) c.48A>T c.4451A>T (p.Asp1484Val) | |
| 1 | g.15930692C>A | CA338614591 | SPEN | c.*5303C>A (n.*5303C>A) c.49C>A c.4452C>A (p.Asp1484Glu) | |
| 1 | g.15930692C>G | CA338614590 | SPEN | c.*5303C>G (n.*5303C>G) c.49C>G c.4452C>G (p.Asp1484Glu) | |
| 1 | g.15930692C>T | CA416380190 | SPEN | c.*5303C>T (n.*5303C>T) c.49C>T c.4452C>T (p.Asp1484=) | |
| 1 | g.15930693T>A | CA338614593 | SPEN | c.*5304T>A (n.*5304T>A) c.50T>A c.4453T>A (p.Ser1485Thr) | gnomAD v4 |
| 1 | g.15930693T>C | CA338614595 | SPEN | c.*5304T>C (n.*5304T>C) c.50T>C c.4453T>C (p.Ser1485Pro) | |
| 1 | g.15930693T>G | CA338614597 | SPEN | c.*5304T>G (n.*5304T>G) c.50T>G c.4453T>G (p.Ser1485Ala) | |
| 1 | g.15930694C>A | CA338614601 | SPEN | c.*5305C>A (n.*5305C>A) c.51C>A c.4454C>A (p.Ser1485Tyr) | |
| 1 | g.15930694C>G | CA338614602 | SPEN | c.*5305C>G (n.*5305C>G) c.51C>G c.4454C>G (p.Ser1485Cys) | ClinVar |