| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52084884G>A | CA138936787 | PKHD1 | c.50C>T (p.Ala17Val) n.326C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.52084884G= | CA1628653596 | PKHD1 | c.50C= (p.Ala17=) n.326C= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52084884G>A | CA138936787 | PKHD1 | c.50C>T (p.Ala17Val) n.326C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.52084884G= | CA1628653596 | PKHD1 | c.50C= (p.Ala17=) n.326C= | dbSNP |