| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52046182G>A | CA3853210 | PKHD1 | c.2414C>T (p.Pro805Leu) c.1703C>T (p.Pro568Leu) c.2339C>T (p.Pro780Leu) c.554C>T (p.Pro185Leu) n.2690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52046182G= | CA1628631477 | PKHD1 | c.2414C= (p.Pro805=) c.1703C= (p.Pro568=) c.2339C= (p.Pro780=) c.554C= (p.Pro185=) n.2690C= | dbSNP |