| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36985782C>T | CA224024 | NIPBL | c.2602C>T (p.Arg868Ter) n.2222C>T c.1-78796C>T (n.1-78796C>T) c.1858C>T (p.Arg620Ter) c.1942C>T (p.Arg648Ter) c.985C>T (p.Arg329Ter) c.1495+9380C>T (n.1495+9380C>T) | ClinVar dbSNP |
| 5 | g.36985782C>A | CA444096026 | NIPBL | c.2602C>A (p.Arg868=) n.2222C>A c.1-78796C>A (n.1-78796C>A) c.1858C>A (p.Arg620=) c.1942C>A (p.Arg648=) c.985C>A (p.Arg329=) c.1495+9380C>A (n.1495+9380C>A) | ClinVar dbSNP gnomAD v4 |