| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37051786C>T | CA16618204 | NIPBL | c.6962C>T (p.Pro2321Leu) n.844C>T c.1-12792C>T (n.1-12792C>T) c.6218C>T (p.Pro2073Leu) c.6764C>T (p.Pro2255Leu) c.6581C>T (p.Pro2194Leu) c.6302C>T (p.Pro2101Leu) c.5345C>T (p.Pro1782Leu) c.5336C>T (p.Pro1779Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37051786C= | CA1539571306 | NIPBL | c.6962C= (p.Pro2321=) n.844C= c.1-12792C= (n.1-12792C=) c.6218C= (p.Pro2073=) c.6764C= (p.Pro2255=) c.6581C= (p.Pro2194=) c.6302C= (p.Pro2101=) c.5345C= (p.Pro1782=) c.5336C= (p.Pro1779=) | dbSNP |