| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37044480G>T | CA272208 | NIPBL | c.6242G>T (p.Gly2081Val) c.1-20098G>T (n.1-20098G>T) c.5498G>T (p.Gly1833Val) c.6044G>T (p.Gly2015Val) c.5861G>T (p.Gly1954Val) c.5582G>T (p.Gly1861Val) c.4625G>T (p.Gly1542Val) c.4616G>T (p.Gly1539Val) | ClinVar dbSNP |
| 5 | g.37044480G>C | CA16043409 | NIPBL | c.6242G>C (p.Gly2081Ala) c.1-20098G>C (n.1-20098G>C) c.5498G>C (p.Gly1833Ala) c.6044G>C (p.Gly2015Ala) c.5861G>C (p.Gly1954Ala) c.5582G>C (p.Gly1861Ala) c.4625G>C (p.Gly1542Ala) c.4616G>C (p.Gly1539Ala) | ClinVar dbSNP |
| 5 | g.37044480G= | CA1539617549 | NIPBL | c.6242G= (p.Gly2081=) c.1-20098G= (n.1-20098G=) c.5498G= (p.Gly1833=) c.6044G= (p.Gly2015=) c.5861G= (p.Gly1954=) c.5582G= (p.Gly1861=) c.4625G= (p.Gly1542=) c.4616G= (p.Gly1539=) | dbSNP |