| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37057211A>G | CA252115 | NIPBL | c.7289A>G (p.Tyr2430Cys) c.7264-1680A>G (n.7264-1680A>G) n.1171A>G c.1-7367A>G (n.1-7367A>G) c.6545A>G (p.Tyr2182Cys) c.7091A>G (p.Tyr2364Cys) c.6908A>G (p.Tyr2303Cys) c.7264-3633A>G (n.7264-3633A>G) c.6629A>G (p.Tyr2210Cys) c.5672A>G (p.Tyr1891Cys) c.5663A>G (p.Tyr1888Cys) | ClinVar dbSNP |
| 5 | g.37057211A= | CA1539578662 | NIPBL | c.7289A= (p.Tyr2430=) c.7264-1680A= (n.7264-1680A=) n.1171A= c.1-7367A= (n.1-7367A=) c.6545A= (p.Tyr2182=) c.7091A= (p.Tyr2364=) c.6908A= (p.Tyr2303=) c.7264-3633A= (n.7264-3633A=) c.6629A= (p.Tyr2210=) c.5672A= (p.Tyr1891=) c.5663A= (p.Tyr1888=) | dbSNP |