| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1806162A>G | CA126376 | FGFR3 | c.1954A>G (p.Lys652Glu) c.*1004A>G (n.*1004A>G) c.1612A>G (p.Lys538Glu) c.1936A>G (p.Lys646Glu) c.1948A>G (p.Lys650Glu) c.1951A>G (p.Lys651Glu) c.1960A>G (p.Lys654Glu) c.1957A>G (p.Lys653Glu) n.2355A>G n.2374A>G | ClinVar dbSNP COSMIC COSMIC |
| 4 | g.1806162A>C | CA170755 | FGFR3 | c.1954A>C (p.Lys652Gln) c.*1004A>C (n.*1004A>C) c.1612A>C (p.Lys538Gln) c.1936A>C (p.Lys646Gln) c.1948A>C (p.Lys650Gln) c.1951A>C (p.Lys651Gln) c.1960A>C (p.Lys654Gln) c.1957A>C (p.Lys653Gln) n.2355A>C n.2374A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |