| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.46360664G>C | CA346699016 | EPAS1 | c.481G>C (p.Asp161His) n.300G>C c.520G>C (p.Asp174His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.46360664G>A | CA1644664 | EPAS1 | c.481G>A (p.Asp161Asn) n.300G>A c.520G>A (p.Asp174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.46360664G= | CA2495271917 | EPAS1 | c.481G= (p.Asp161=) n.300G= c.520G= (p.Asp174=) | dbSNP |