| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52043102C>G | CA364442421 | PKHD1 | c.2854G>C (p.Gly952Arg) c.2143G>C (p.Gly715Arg) c.2779G>C (p.Gly927Arg) c.994G>C (p.Gly332Arg) n.3130G>C | ClinVar dbSNP |
| 6 | g.52043102C>T | CA275144 | PKHD1 | c.2854G>A (p.Gly952Arg) c.2143G>A (p.Gly715Arg) c.2779G>A (p.Gly927Arg) c.994G>A (p.Gly332Arg) n.3130G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.52043102C>A | CA364442420 | PKHD1 | c.2854G>T (p.Gly952Ter) c.2143G>T (p.Gly715Ter) c.2779G>T (p.Gly927Ter) c.994G>T (p.Gly332Ter) n.3130G>T | ClinVar dbSNP COSMIC COSMIC |