Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.40023239A>T | CA500179663 | MED24 | c.2142T>A (p.Ile714=) c.2103T>A (p.Ile701=) c.2217T>A (p.Ile739=) n.413T>A c.2199T>A (p.Ile733=) c.1992T>A (p.Ile664=) c.*1765T>A (n.*1765T>A) n.452T>A c.274-3947T>A (n.274-3947T>A) n.2381T>A c.2253T>A (p.Ile751=) c.2178T>A (p.Ile726=) c.2310T>A (p.Ile770=) c.2235T>A (p.Ile745=) c.1887T>A (p.Ile629=) n.2272T>A n.2153T>A | dbSNP |
17 | g.40023239A>C | CA399289332 | MED24 | c.2142T>G (p.Ile714Met) c.2103T>G (p.Ile701Met) c.2217T>G (p.Ile739Met) n.413T>G c.2199T>G (p.Ile733Met) c.1992T>G (p.Ile664Met) c.*1765T>G (n.*1765T>G) n.452T>G c.274-3947T>G (n.274-3947T>G) n.2381T>G c.2253T>G (p.Ile751Met) c.2178T>G (p.Ile726Met) c.2310T>G (p.Ile770Met) c.2235T>G (p.Ile745Met) c.1887T>G (p.Ile629Met) n.2272T>G n.2153T>G | dbSNP |
17 | g.40023239A>G | CA8538264 | MED24 | c.2142T>C (p.Ile714=) c.2103T>C (p.Ile701=) c.2217T>C (p.Ile739=) n.413T>C c.2199T>C (p.Ile733=) c.1992T>C (p.Ile664=) c.*1765T>C (n.*1765T>C) n.452T>C c.274-3947T>C (n.274-3947T>C) n.2381T>C c.2253T>C (p.Ile751=) c.2178T>C (p.Ile726=) c.2310T>C (p.Ile770=) c.2235T>C (p.Ile745=) c.1887T>C (p.Ile629=) n.2272T>C n.2153T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |