| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46993986T>C | CA129687 | NBEAL2 | c.1163T>C (p.Leu388Pro) c.1061T>C (p.Leu354Pro) c.1082T>C (p.Leu361Pro) c.1142T>C (p.Leu381Pro) c.794T>C (p.Leu265Pro) c.623T>C (p.Leu208Pro) c.509T>C (p.Leu170Pro) c.71T>C (p.Leu24Pro) n.1339T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.46993986T= | CA1362360156 | NBEAL2 | c.1163T= (p.Leu388=) c.1061T= (p.Leu354=) c.1082T= (p.Leu361=) c.1142T= (p.Leu381=) c.794T= (p.Leu265=) c.623T= (p.Leu208=) c.509T= (p.Leu170=) c.71T= (p.Leu24=) n.1339T= | dbSNP |