Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52050167T>C | CA3853290 | PKHD1 | c.2269A>G (p.Ile757Val) c.1558A>G (p.Ile520Val) c.2194A>G (p.Ile732Val) c.409A>G (p.Ile137Val) n.2545A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52050167T>G | CA3853291 | PKHD1 | c.2269A>C (p.Ile757Leu) c.1558A>C (p.Ile520Leu) c.2194A>C (p.Ile732Leu) c.409A>C (p.Ile137Leu) n.2545A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |