| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659462A>T | CA275363 | PKHD1 | c.10664T>A (p.Ile3555Lys) c.10535T>A (p.Ile3512Lys) c.10526T>A (p.Ile3509Lys) c.10022T>A (p.Ile3341Lys) c.9953T>A (p.Ile3318Lys) c.10157-10242T>A (n.10157-10242T>A) c.4739T>A (p.Ile1580Lys) n.535+7089A>T n.403+7089A>T c.10589T>A (p.Ile3530Lys) c.10469T>A (p.Ile3490Lys) c.10400T>A (p.Ile3467Lys) c.8804T>A (p.Ile2935Lys) n.10940T>A n.3145+7089A>T n.3013+7089A>T | ClinVar dbSNP |
| 6 | g.51659462A= | CA1628439091 | PKHD1 | c.10664T= (p.Ile3555=) c.10535T= (p.Ile3512=) c.10526T= (p.Ile3509=) c.10022T= (p.Ile3341=) c.9953T= (p.Ile3318=) c.10157-10242T= (n.10157-10242T=) c.4739T= (p.Ile1580=) n.535+7089A= n.403+7089A= c.10589T= (p.Ile3530=) c.10469T= (p.Ile3490=) c.10400T= (p.Ile3467=) c.8804T= (p.Ile2935=) n.10940T= n.3145+7089A= n.3013+7089A= | dbSNP |