| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1807262A>C | CA344897 | FGFR3 | c.2427A>C (p.Ter809Cys) c.*1477A>C (n.*1477A>C) c.2085A>C (p.Ter695Cys) c.2409A>C (p.Ter803Cys) c.2421A>C (p.Ter807Cys) c.2353A>C (p.Lys785Gln) c.2436A>C (p.Ter812Cys) c.2433A>C (p.Ter811Cys) c.2430A>C (p.Ter810Cys) c.2424A>C (p.Ter808Cys) n.2828A>C n.2847A>C | ClinVar dbSNP |
| 4 | g.1807262A>T | CA341407 | FGFR3 | c.2427A>T (p.Ter809Cys) c.*1477A>T (n.*1477A>T) c.2085A>T (p.Ter695Cys) c.2409A>T (p.Ter803Cys) c.2421A>T (p.Ter807Cys) c.2353A>T (p.Lys785Ter) c.2436A>T (p.Ter812Cys) c.2433A>T (p.Ter811Cys) c.2430A>T (p.Ter810Cys) c.2424A>T (p.Ter808Cys) n.2828A>T n.2847A>T | ClinVar dbSNP |
| 4 | g.1807262A>G | CA344898 | FGFR3 | c.2427A>G (p.Ter809Trp) c.*1477A>G (n.*1477A>G) c.2085A>G (p.Ter695Trp) c.2409A>G (p.Ter803Trp) c.2421A>G (p.Ter807Trp) c.2353A>G (p.Lys785Glu) c.2436A>G (p.Ter812Trp) c.2433A>G (p.Ter811Trp) c.2430A>G (p.Ter810Trp) c.2424A>G (p.Ter808Trp) n.2828A>G n.2847A>G | ClinVar dbSNP |
| 4 | g.1807262A= | CA1433494018 | FGFR3 | c.2427A= (p.Ter809=) c.*1477A= (n.*1477A=) c.2085A= (p.Ter695=) c.2409A= (p.Ter803=) c.2421A= (p.Ter807=) c.2353A= (p.Lys785=) c.2436A= (p.Ter812=) c.2433A= (p.Ter811=) c.2430A= (p.Ter810=) c.2424A= (p.Ter808=) n.2828A= n.2847A= | dbSNP |