| 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 |
| 4 | g.1807261G>A | CA438063371 | FGFR3 | c.2426G>A (p.Ter809=) c.*1476G>A (n.*1476G>A) c.2084G>A (p.Ter695=) c.2408G>A (p.Ter803=) c.2420G>A (p.Ter807=) c.2352G>A (p.Val784=) c.2435G>A (p.Ter812=) c.2432G>A (p.Ter811=) c.2429G>A (p.Ter810=) c.2423G>A (p.Ter808=) n.2827G>A n.2846G>A | dbSNP gnomAD v4 |
| 4 | g.1807261G= | CA1433494013 | FGFR3 | c.2426G= (p.Ter809=) c.*1476G= (n.*1476G=) c.2084G= (p.Ter695=) c.2408G= (p.Ter803=) c.2420G= (p.Ter807=) c.2352G= (p.Val784=) c.2435G= (p.Ter812=) c.2432G= (p.Ter811=) c.2429G= (p.Ter810=) c.2423G= (p.Ter808=) n.2827G= n.2846G= | dbSNP |