| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.46380281G>A | CA118291 | EPAS1 | c.1609G>A (p.Gly537Arg) n.582G>A c.1648G>A (p.Gly550Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.46380281G>T | CA118290 | EPAS1 | c.1609G>T (p.Gly537Trp) n.582G>T c.1648G>T (p.Gly550Trp) | ClinVar dbSNP |
| 2 | g.46380281G= | CA2495282239 | EPAS1 | c.1609G= (p.Gly537=) n.582G= c.1648G= (p.Gly550=) | dbSNP |