| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37038700G>C | CA16618203 | NIPBL | c.6070G>C (p.Ala2024Pro) c.1-25878G>C (n.1-25878G>C) c.5326G>C (p.Ala1776Pro) c.5872G>C (p.Ala1958Pro) c.5689G>C (p.Ala1897Pro) c.5410G>C (p.Ala1804Pro) c.4453G>C (p.Ala1485Pro) c.4444G>C (p.Ala1482Pro) | ClinVar dbSNP |
| 5 | g.37038700G= | CA1539611529 | NIPBL | c.6070G= (p.Ala2024=) c.1-25878G= (n.1-25878G=) c.5326G= (p.Ala1776=) c.5872G= (p.Ala1958=) c.5689G= (p.Ala1897=) c.5410G= (p.Ala1804=) c.4453G= (p.Ala1485=) c.4444G= (p.Ala1482=) | dbSNP |