| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.47251285G>A | CA341239 | STIL | c.3577C>T (p.Gln1193Ter) c.3523C>T (p.Gln1175Ter) n.2268C>T c.2763C>T n.2490C>T c.3718C>T (p.Gln1240Ter) c.3715C>T (p.Gln1239Ter) c.3664C>T (p.Gln1222Ter) c.3022C>T (p.Gln1008Ter) c.*575C>T (n.*575C>T) c.3574C>T (p.Gln1192Ter) c.3007C>T (p.Gln1003Ter) n.3992C>T | ClinVar dbSNP |
| 1 | g.47251285G>C | CA22067968 | STIL | c.3577C>G (p.Gln1193Glu) c.3523C>G (p.Gln1175Glu) n.2268C>G c.2763C>G n.2490C>G c.3718C>G (p.Gln1240Glu) c.3715C>G (p.Gln1239Glu) c.3664C>G (p.Gln1222Glu) c.3022C>G (p.Gln1008Glu) c.*575C>G (n.*575C>G) c.3574C>G (p.Gln1192Glu) c.3007C>G (p.Gln1003Glu) n.3992C>G | dbSNP |