| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1805643A>C | CA341415 | FGFR3 | c.1625A>C (p.Asn542Thr) c.*675A>C (n.*675A>C) c.1283A>C (p.Asn428Thr) c.1607A>C (p.Asn536Thr) c.1619A>C (p.Asn540Thr) c.1622A>C (p.Asn541Thr) n.685A>C c.1631A>C (p.Asn544Thr) c.1628A>C (p.Asn543Thr) n.2026A>C n.2045A>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.1805643A>G | CA341420 | FGFR3 | c.1625A>G (p.Asn542Ser) c.*675A>G (n.*675A>G) c.1283A>G (p.Asn428Ser) c.1607A>G (p.Asn536Ser) c.1619A>G (p.Asn540Ser) c.1622A>G (p.Asn541Ser) n.685A>G c.1631A>G (p.Asn544Ser) c.1628A>G (p.Asn543Ser) n.2026A>G n.2045A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1805643A= | CA1433507524 | FGFR3 | c.1625A= (p.Asn542=) c.*675A= (n.*675A=) c.1283A= (p.Asn428=) c.1607A= (p.Asn536=) c.1619A= (p.Asn540=) c.1622A= (p.Asn541=) n.685A= c.1631A= (p.Asn544=) c.1628A= (p.Asn543=) n.2026A= n.2045A= | dbSNP |