| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155659934A>T | CA16044405 | YY1AP1 | c.1976T>A (p.Leu659Ter) c.2114T>A (p.Leu705Ter) c.1883T>A (p.Leu628Ter) c.*1240T>A (n.*1240T>A) c.1943T>A (p.Leu648Ter) c.*1474T>A (n.*1474T>A) c.2390T>A (p.Leu797Ter) c.2330T>A (p.Leu777Ter) c.1916T>A (p.Leu639Ter) c.*1985T>A (n.*1985T>A) n.2020T>A n.312T>A c.*919T>A (n.*919T>A) c.1778T>A (p.Leu593Ter) c.2174T>A (p.Leu725Ter) | ClinVar dbSNP |
| 1 | g.155659934A>C | CA30937819 | YY1AP1 | c.1976T>G (p.Leu659Ter) c.2114T>G (p.Leu705Ter) c.1883T>G (p.Leu628Ter) c.*1240T>G (n.*1240T>G) c.1943T>G (p.Leu648Ter) c.*1474T>G (n.*1474T>G) c.2390T>G (p.Leu797Ter) c.2330T>G (p.Leu777Ter) c.1916T>G (p.Leu639Ter) c.*1985T>G (n.*1985T>G) n.2020T>G n.312T>G c.*919T>G (n.*919T>G) c.1778T>G (p.Leu593Ter) c.2174T>G (p.Leu725Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |