| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1806604G>C | CA355983670 | FGFR3 | c.2095G>C (p.Gly699Arg) c.*1145G>C (n.*1145G>C) c.1753G>C (p.Gly585Arg) c.2077G>C (p.Gly693Arg) c.2089G>C (p.Gly697Arg) c.2021G>C (p.Arg674Pro) c.2101G>C (p.Gly701Arg) c.2098G>C (p.Gly700Arg) c.2092G>C (p.Gly698Arg) n.2496G>C n.2515G>C | dbSNP |
| 4 | g.1806604G>T | CA16602701 | FGFR3 | c.2095G>T (p.Gly699Cys) c.*1145G>T (n.*1145G>T) c.1753G>T (p.Gly585Cys) c.2077G>T (p.Gly693Cys) c.2089G>T (p.Gly697Cys) c.2021G>T (p.Arg674Leu) c.2101G>T (p.Gly701Cys) c.2098G>T (p.Gly700Cys) c.2092G>T (p.Gly698Cys) n.2496G>T n.2515G>T | ClinVar dbSNP COSMIC |
| 4 | g.1806604G>A | CA355983663 | FGFR3 | c.2095G>A (p.Gly699Ser) c.*1145G>A (n.*1145G>A) c.1753G>A (p.Gly585Ser) c.2077G>A (p.Gly693Ser) c.2089G>A (p.Gly697Ser) c.2021G>A (p.Arg674Gln) c.2101G>A (p.Gly701Ser) c.2098G>A (p.Gly700Ser) c.2092G>A (p.Gly698Ser) n.2496G>A n.2515G>A | ClinVar dbSNP COSMIC |
| 4 | g.1806604G= | CA1433493112 | FGFR3 | c.2095G= (p.Gly699=) c.*1145G= (n.*1145G=) c.1753G= (p.Gly585=) c.2077G= (p.Gly693=) c.2089G= (p.Gly697=) c.2021G= (p.Arg674=) c.2101G= (p.Gly701=) c.2098G= (p.Gly700=) c.2092G= (p.Gly698=) n.2496G= n.2515G= | dbSNP |