| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7965425G>C | CA254096 | PARK7 | c.192G>C (p.Glu64Asp) n.288G>C n.261G>C c.75G>C (p.Glu25Asp) n.211G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7965425G>A | CA415835944 | PARK7 | c.192G>A (p.Glu64=) n.288G>A n.261G>A c.75G>A (p.Glu25=) n.211G>A | dbSNP gnomAD v4 |
| 1 | g.7965425G= | CA1140886318 | PARK7 | c.192G= (p.Glu64=) n.288G= n.261G= c.75G= (p.Glu25=) n.211G= | dbSNP |