| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137776684C>T | CA345052 | EHMT1 | c.1858C>T (p.Arg620Ter) c.1744C>T (p.Arg582Ter) c.1765C>T (p.Arg589Ter) c.1898C>T (n.1898C>T) c.1485C>T c.1027C>T (p.Arg343Ter) c.*1593C>T (n.*1593C>T) c.715C>T (p.Arg239Ter) c.406C>T (p.Arg136Ter) n.1765G>A c.1849C>T (p.Arg617Ter) c.1840C>T (p.Arg614Ter) c.1867C>T (p.Arg623Ter) c.1864C>T (p.Arg622Ter) c.1846C>T (p.Arg616Ter) c.1789C>T (p.Arg597Ter) c.1723C>T (p.Arg575Ter) c.289C>T (p.Arg97Ter) c.1702C>T (p.Arg568Ter) c.1837C>T (p.Arg613Ter) c.1843C>T (p.Arg615Ter) c.1759C>T (p.Arg587Ter) c.1687C>T (p.Arg563Ter) c.1621C>T (p.Arg541Ter) c.982C>T (p.Arg328Ter) c.1600C>T (p.Arg534Ter) | ClinVar dbSNP |
| 9 | g.137776684C>A | CA5374748 | EHMT1 | c.1858C>A (p.Arg620=) c.1744C>A (p.Arg582=) c.1765C>A (p.Arg589=) c.1898C>A (n.1898C>A) c.1485C>A c.1027C>A (p.Arg343=) c.*1593C>A (n.*1593C>A) c.715C>A (p.Arg239=) c.406C>A (p.Arg136=) n.1765G>T c.1849C>A (p.Arg617=) c.1840C>A (p.Arg614=) c.1867C>A (p.Arg623=) c.1864C>A (p.Arg622=) c.1846C>A (p.Arg616=) c.1789C>A (p.Arg597=) c.1723C>A (p.Arg575=) c.289C>A (p.Arg97=) c.1702C>A (p.Arg568=) c.1837C>A (p.Arg613=) c.1843C>A (p.Arg615=) c.1759C>A (p.Arg587=) c.1687C>A (p.Arg563=) c.1621C>A (p.Arg541=) c.982C>A (p.Arg328=) c.1600C>A (p.Arg534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |