| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1807261G>T | CA344894 | FGFR3 | c.2426G>T (p.Ter809Leu) c.*1476G>T (n.*1476G>T) c.2084G>T (p.Ter695Leu) c.2408G>T (p.Ter803Leu) c.2420G>T (p.Ter807Leu) c.2352G>T (p.Val784=) c.2435G>T (p.Ter812Leu) c.2432G>T (p.Ter811Leu) c.2429G>T (p.Ter810Leu) c.2423G>T (p.Ter808Leu) n.2827G>T n.2846G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.1807261G>C | CA355987995 | FGFR3 | c.2426G>C (p.Ter809Ser) c.*1476G>C (n.*1476G>C) c.2084G>C (p.Ter695Ser) c.2408G>C (p.Ter803Ser) c.2420G>C (p.Ter807Ser) c.2352G>C (p.Val784=) c.2435G>C (p.Ter812Ser) c.2432G>C (p.Ter811Ser) c.2429G>C (p.Ter810Ser) c.2423G>C (p.Ter808Ser) n.2827G>C n.2846G>C | ClinVar dbSNP COSMIC |