| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37051871T>C | CA3237118 | NIPBL | c.7047T>C (p.Tyr2349=) n.929T>C c.1-12707T>C (n.1-12707T>C) c.6303T>C (p.Tyr2101=) c.6849T>C (p.Tyr2283=) c.6666T>C (p.Tyr2222=) c.6387T>C (p.Tyr2129=) c.5430T>C (p.Tyr1810=) c.5421T>C (p.Tyr1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051871T>G | CA267219 | NIPBL | c.7047T>G (p.Tyr2349Ter) n.929T>G c.1-12707T>G (n.1-12707T>G) c.6303T>G (p.Tyr2101Ter) c.6849T>G (p.Tyr2283Ter) c.6666T>G (p.Tyr2222Ter) c.6387T>G (p.Tyr2129Ter) c.5430T>G (p.Tyr1810Ter) c.5421T>G (p.Tyr1807Ter) | ClinVar dbSNP |