| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.69400462C>A | CA129406 | NFU1 | c.622G>T (p.Gly208Cys) c.550G>T (p.Gly184Cys) c.199G>T (p.Gly67Cys) n.423-4172G>T c.253G>T (p.Gly85Cys) n.692G>T n.616-4172G>T n.499G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.69400462C= | CA1259093741 | NFU1 | c.622G= (p.Gly208=) c.550G= (p.Gly184=) c.199G= (p.Gly67=) n.423-4172G= c.253G= (p.Gly85=) n.692G= n.616-4172G= n.499G= | dbSNP |