| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36986012T>A | CA272032 | NIPBL | c.2832T>A (p.Tyr944Ter) n.2452T>A c.1-78566T>A (n.1-78566T>A) c.2088T>A (p.Tyr696Ter) c.2172T>A (p.Tyr724Ter) c.1215T>A (p.Tyr405Ter) c.1496-9610T>A (n.1496-9610T>A) | ClinVar dbSNP |
| 5 | g.36986012T>C | CA444096359 | NIPBL | c.2832T>C (p.Tyr944=) n.2452T>C c.1-78566T>C (n.1-78566T>C) c.2088T>C (p.Tyr696=) c.2172T>C (p.Tyr724=) c.1215T>C (p.Tyr405=) c.1496-9610T>C (n.1496-9610T>C) | dbSNP gnomAD v4 |