| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52028188dup | CA275196 | PKHD1 | c.3528dup (p.Ser1177LeufsTer13) c.2817dup (p.Ser940LeufsTer13) c.3453dup (p.Ser1152LeufsTer13) c.3365-2007dup (n.3365-2007dup) c.1668dup (p.Ser557LeufsTer13) n.3804dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52028188G= | CA1628600265 | PKHD1 | c.3528C= (p.Val1176=) c.2817C= (p.Val939=) c.3453C= (p.Val1151=) c.3365-2007C= (n.3365-2007C=) c.1668C= (p.Val556=) n.3804C= | dbSNP dbSNP |