| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1805636A>G | CA341417 | FGFR3 | c.1618A>G (p.Ile540Val) c.*668A>G (n.*668A>G) c.1276A>G (p.Ile426Val) c.1600A>G (p.Ile534Val) c.1612A>G (p.Ile538Val) c.1615A>G (p.Ile539Val) n.678A>G c.1624A>G (p.Ile542Val) c.1621A>G (p.Ile541Val) n.2019A>G n.2038A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805636A= | CA1433507520 | FGFR3 | c.1618A= (p.Ile540=) c.*668A= (n.*668A=) c.1276A= (p.Ile426=) c.1600A= (p.Ile534=) c.1612A= (p.Ile538=) c.1615A= (p.Ile539=) n.678A= c.1624A= (p.Ile542=) c.1621A= (p.Ile541=) n.2019A= n.2038A= | dbSNP |