| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42322464T>A | CA8575185 | STAT3 | c.1919A>T (p.Tyr640Phe) c.*311A>T (n.*311A>T) c.1892A>T (p.Tyr631Phe) n.1372A>T c.*307A>T (n.*307A>T) c.2015A>T (p.Tyr672Phe) n.2119A>T c.1898A>T (p.Tyr633Phe) c.1835A>T (p.Tyr612Phe) c.1934A>T (p.Tyr645Phe) n.2356A>T c.1823A>T (p.Tyr608Phe) n.2336A>T n.2162A>T c.1625A>T (p.Tyr542Phe) c.1841A>T (p.Tyr614Phe) c.1859A>T (p.Tyr620Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42322464T>C | CA399582458 | STAT3 | c.1919A>G (p.Tyr640Cys) c.*311A>G (n.*311A>G) c.1892A>G (p.Tyr631Cys) n.1372A>G c.*307A>G (n.*307A>G) c.2015A>G (p.Tyr672Cys) n.2119A>G c.1898A>G (p.Tyr633Cys) c.1835A>G (p.Tyr612Cys) c.1934A>G (p.Tyr645Cys) n.2356A>G c.1823A>G (p.Tyr608Cys) n.2336A>G n.2162A>G c.1625A>G (p.Tyr542Cys) c.1841A>G (p.Tyr614Cys) c.1859A>G (p.Tyr620Cys) | dbSNP |
| 17 | g.42322464T>G | CA399582455 | STAT3 | c.1919A>C (p.Tyr640Ser) c.*311A>C (n.*311A>C) c.1892A>C (p.Tyr631Ser) n.1372A>C c.*307A>C (n.*307A>C) c.2015A>C (p.Tyr672Ser) n.2119A>C c.1898A>C (p.Tyr633Ser) c.1835A>C (p.Tyr612Ser) c.1934A>C (p.Tyr645Ser) n.2356A>C c.1823A>C (p.Tyr608Ser) n.2336A>C n.2162A>C c.1625A>C (p.Tyr542Ser) c.1841A>C (p.Tyr614Ser) c.1859A>C (p.Tyr620Ser) | dbSNP |
| 17 | g.42322464T= | CA2260430751 | STAT3 | c.1919A= (p.Tyr640=) c.*311A= (n.*311A=) c.1892A= (p.Tyr631=) n.1372A= c.*307A= (n.*307A=) c.2015A= (p.Tyr672=) n.2119A= c.1898A= (p.Tyr633=) c.1835A= (p.Tyr612=) c.1934A= (p.Tyr645=) n.2356A= c.1823A= (p.Tyr608=) n.2336A= n.2162A= c.1625A= (p.Tyr542=) c.1841A= (p.Tyr614=) c.1859A= (p.Tyr620=) | dbSNP |