| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52083201G>A | CA129366 | PKHD1 | c.107C>T (p.Thr36Met) n.383C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52083201G= | CA1628652885 | PKHD1 | c.107C= (p.Thr36=) n.383C= | dbSNP |
| 6 | g.52083201G>C | CA364440928 | PKHD1 | c.107C>G (p.Thr36Arg) n.383C>G | dbSNP |
| 6 | g.52083201G>T | CA364440929 | PKHD1 | c.107C>A (p.Thr36Lys) n.383C>A | dbSNP COSMIC COSMIC |