| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37010176T>A | CA267537 | NIPBL | c.4511T>A (p.Leu1504Ter) c.1-54402T>A (n.1-54402T>A) c.3767T>A (p.Leu1256Ter) c.4313T>A (p.Leu1438Ter) c.4130T>A (p.Leu1377Ter) c.3851T>A (p.Leu1284Ter) c.2894T>A (p.Leu965Ter) c.2885T>A (p.Leu962Ter) | ClinVar dbSNP |
| 5 | g.37010176T>C | CA359527918 | NIPBL | c.4511T>C (p.Leu1504Ser) c.1-54402T>C (n.1-54402T>C) c.3767T>C (p.Leu1256Ser) c.4313T>C (p.Leu1438Ser) c.4130T>C (p.Leu1377Ser) c.3851T>C (p.Leu1284Ser) c.2894T>C (p.Leu965Ser) c.2885T>C (p.Leu962Ser) | dbSNP gnomAD v4 |
| 5 | g.37010176T= | CA1539609302 | NIPBL | c.4511T= (p.Leu1504=) c.1-54402T= (n.1-54402T=) c.3767T= (p.Leu1256=) c.4313T= (p.Leu1438=) c.4130T= (p.Leu1377=) c.3851T= (p.Leu1284=) c.2894T= (p.Leu965=) c.2885T= (p.Leu962=) | dbSNP |