| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75954007A>T | CA456079847 | POR | c.15A>T (p.Gly5=) n.42A>T c.6A>T (p.Gly2=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75954007A>G | CA257669 | POR | c.15A>G (p.Gly5=) n.42A>G c.6A>G (p.Gly2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.75954007A= | CA1718163014 | POR | c.15A= (p.Gly5=) n.42A= c.6A= (p.Gly2=) | dbSNP |