| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081471A>G | CA123731 | NRL | c.479T>C (p.Leu160Pro) c.62T>C (p.Leu21Pro) c.578T>C (p.Leu193Pro) c.263T>C (p.Leu88Pro) c.164T>C (p.Leu55Pro) c.785T>C (p.Leu262Pro) c.470T>C (p.Leu157Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081471A= | CA2123777754 | NRL | c.479T= (p.Leu160=) c.62T= (p.Leu21=) c.578T= (p.Leu193=) c.263T= (p.Leu88=) c.164T= (p.Leu55=) c.785T= (p.Leu262=) c.470T= (p.Leu157=) | dbSNP |