| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1801518C>G | CA355975318 | FGFR3 | c.597C>G (p.His199Gln) c.585C>G (p.His195Gln) c.57C>G (p.His19Gln) n.853C>G n.872C>G | dbSNP |
| 4 | g.1801518C>T | CA345216 | FGFR3 | c.597C>T (p.His199=) c.585C>T (p.His195=) c.57C>T (p.His19=) n.853C>T n.872C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1801518C= | CA1433504855 | FGFR3 | c.597C= (p.His199=) c.585C= (p.His195=) c.57C= (p.His19=) n.853C= n.872C= | dbSNP |