| 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 |
