| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36975964A>C | CA359483857 | NIPBL | c.1057A>C (p.Lys353Gln) n.677A>C c.1-88614A>C (n.1-88614A>C) c.313A>C (p.Lys105Gln) c.397A>C (p.Lys133Gln) | dbSNP gnomAD v4 |
| 5 | g.36975964A>T | CA271957 | NIPBL | c.1057A>T (p.Lys353Ter) n.677A>T c.1-88614A>T (n.1-88614A>T) c.313A>T (p.Lys105Ter) c.397A>T (p.Lys133Ter) | ClinVar dbSNP |