Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.1805661C>T | CA355981615 | FGFR3 | c.1643C>T (p.Thr548Met) c.*693C>T (n.*693C>T) c.1301C>T (p.Thr434Met) c.1625C>T (p.Thr542Met) c.1637C>T (p.Thr546Met) c.1640C>T (p.Thr547Met) n.703C>T c.1649C>T (p.Thr550Met) c.1646C>T (p.Thr549Met) n.2044C>T n.2063C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.1805661C>A | CA170920 | FGFR3 | c.1643C>A (p.Thr548Lys) c.*693C>A (n.*693C>A) c.1301C>A (p.Thr434Lys) c.1625C>A (p.Thr542Lys) c.1637C>A (p.Thr546Lys) c.1640C>A (p.Thr547Lys) n.703C>A c.1649C>A (p.Thr550Lys) c.1646C>A (p.Thr549Lys) n.2044C>A n.2063C>A | ClinVar dbSNP |