| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1806076G>C | CA355982309 | FGFR3 | c.1868G>C (p.Arg623Pro) c.*918G>C (n.*918G>C) c.1526G>C (p.Arg509Pro) c.1850G>C (p.Arg617Pro) c.1862G>C (p.Arg621Pro) c.1865G>C (p.Arg622Pro) c.1874G>C (p.Arg625Pro) c.1871G>C (p.Arg624Pro) n.2269G>C n.2288G>C | dbSNP |
| 4 | g.1806076G>A | CA126386 | FGFR3 | c.1868G>A (p.Arg623His) c.*918G>A (n.*918G>A) c.1526G>A (p.Arg509His) c.1850G>A (p.Arg617His) c.1862G>A (p.Arg621His) c.1865G>A (p.Arg622His) c.1874G>A (p.Arg625His) c.1871G>A (p.Arg624His) n.2269G>A n.2288G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.1806076G>T | CA355982310 | FGFR3 | c.1868G>T (p.Arg623Leu) c.*918G>T (n.*918G>T) c.1526G>T (p.Arg509Leu) c.1850G>T (p.Arg617Leu) c.1862G>T (p.Arg621Leu) c.1865G>T (p.Arg622Leu) c.1874G>T (p.Arg625Leu) c.1871G>T (p.Arg624Leu) n.2269G>T n.2288G>T | ClinVar dbSNP |
| 4 | g.1806076G= | CA1433507785 | FGFR3 | c.1868G= (p.Arg623=) c.*918G= (n.*918G=) c.1526G= (p.Arg509=) c.1850G= (p.Arg617=) c.1862G= (p.Arg621=) c.1865G= (p.Arg622=) c.1874G= (p.Arg625=) c.1871G= (p.Arg624=) n.2269G= n.2288G= | dbSNP |