| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1807260T>A | CA341404 | FGFR3 | c.2425T>A (p.Ter809Arg) c.*1475T>A (n.*1475T>A) c.2083T>A (p.Ter695Arg) c.2407T>A (p.Ter803Arg) c.2419T>A (p.Ter807Arg) c.2351T>A (p.Val784Glu) c.2434T>A (p.Ter812Arg) c.2431T>A (p.Ter811Arg) c.2428T>A (p.Ter810Arg) c.2422T>A (p.Ter808Arg) n.2826T>A n.2845T>A | ClinVar dbSNP |
| 4 | g.1807260T>G | CA341401 | FGFR3 | c.2425T>G (p.Ter809Gly) c.*1475T>G (n.*1475T>G) c.2083T>G (p.Ter695Gly) c.2407T>G (p.Ter803Gly) c.2419T>G (p.Ter807Gly) c.2351T>G (p.Val784Gly) c.2434T>G (p.Ter812Gly) c.2431T>G (p.Ter811Gly) c.2428T>G (p.Ter810Gly) c.2422T>G (p.Ter808Gly) n.2826T>G n.2845T>G | ClinVar dbSNP |
| 4 | g.1807260T>C | CA344893 | FGFR3 | c.2425T>C (p.Ter809Arg) c.*1475T>C (n.*1475T>C) c.2083T>C (p.Ter695Arg) c.2407T>C (p.Ter803Arg) c.2419T>C (p.Ter807Arg) c.2351T>C (p.Val784Ala) c.2434T>C (p.Ter812Arg) c.2431T>C (p.Ter811Arg) c.2428T>C (p.Ter810Arg) c.2422T>C (p.Ter808Arg) n.2826T>C n.2845T>C | ClinVar dbSNP |