| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52050158G>A | CA149502 | PKHD1 | c.2278C>T (p.Arg760Cys) c.1567C>T (p.Arg523Cys) c.2203C>T (p.Arg735Cys) c.418C>T (p.Arg140Cys) n.2554C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52050158G>T | CA364443693 | PKHD1 | c.2278C>A (p.Arg760Ser) c.1567C>A (p.Arg523Ser) c.2203C>A (p.Arg735Ser) c.418C>A (p.Arg140Ser) n.2554C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52050158G>C | CA364443692 | PKHD1 | c.2278C>G (p.Arg760Gly) c.1567C>G (p.Arg523Gly) c.2203C>G (p.Arg735Gly) c.418C>G (p.Arg140Gly) n.2554C>G | dbSNP gnomAD v4 |
| 6 | g.52050158G= | CA1628638743 | PKHD1 | c.2278C= (p.Arg760=) c.1567C= (p.Arg523=) c.2203C= (p.Arg735=) c.418C= (p.Arg140=) n.2554C= | dbSNP |