| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37049192A>G | CA16605364 | NIPBL | c.6845A>G (p.Tyr2282Cys) c.1-15386A>G (n.1-15386A>G) c.6101A>G (p.Tyr2034Cys) c.6647A>G (p.Tyr2216Cys) c.6464A>G (p.Tyr2155Cys) c.6185A>G (p.Tyr2062Cys) c.5228A>G (p.Tyr1743Cys) c.5219A>G (p.Tyr1740Cys) | ClinVar dbSNP |
| 5 | g.37049192A= | CA1539568407 | NIPBL | c.6845A= (p.Tyr2282=) c.1-15386A= (n.1-15386A=) c.6101A= (p.Tyr2034=) c.6647A= (p.Tyr2216=) c.6464A= (p.Tyr2155=) c.6185A= (p.Tyr2062=) c.5228A= (p.Tyr1743=) c.5219A= (p.Tyr1740=) | dbSNP |