| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.86769845A>G | CA2996486 | PTPN13 | c.4566A>G (p.Ile1522Met) c.3993A>G (p.Ile1331Met) c.4509A>G (p.Ile1503Met) c.4581A>G (p.Ile1527Met) c.4584A>G (p.Ile1528Met) c.4599A>G (p.Ile1533Met) c.4542A>G (p.Ile1514Met) c.4527A>G (p.Ile1509Met) c.4038A>G (p.Ile1346Met) c.4026A>G (p.Ile1342Met) c.4011A>G (p.Ile1337Met) c.4524A>G (p.Ile1508Met) c.4020A>G (p.Ile1340Met) c.4008A>G (p.Ile1336Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.86769845A= | CA1473999101 | PTPN13 | c.4566A= (p.Ile1522=) c.3993A= (p.Ile1331=) c.4509A= (p.Ile1503=) c.4581A= (p.Ile1527=) c.4584A= (p.Ile1528=) c.4599A= (p.Ile1533=) c.4542A= (p.Ile1514=) c.4527A= (p.Ile1509=) c.4038A= (p.Ile1346=) c.4026A= (p.Ile1342=) c.4011A= (p.Ile1337=) c.4524A= (p.Ile1508=) c.4020A= (p.Ile1340=) c.4008A= (p.Ile1336=) | dbSNP |