| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36971948G>A | CA16618200 | NIPBL | c.775G>A (p.Gly259Arg) n.395G>A n.754G>A c.1-92630G>A (n.1-92630G>A) c.31G>A (p.Gly11Arg) c.115G>A (p.Gly39Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.36971948G= | CA1539564668 | NIPBL | c.775G= (p.Gly259=) n.395G= n.754G= c.1-92630G= (n.1-92630G=) c.31G= (p.Gly11=) c.115G= (p.Gly39=) | dbSNP |