| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659724T>C | CA3851085 | PKHD1 | c.10402A>G (p.Ile3468Val) c.10273A>G (p.Ile3425Val) c.10264A>G (p.Ile3422Val) c.9760A>G (p.Ile3254Val) c.9691A>G (p.Ile3231Val) c.10157-10504A>G (n.10157-10504A>G) c.4477A>G (p.Ile1493Val) n.535+7351T>C n.403+7351T>C c.10327A>G (p.Ile3443Val) c.10207A>G (p.Ile3403Val) c.10138A>G (p.Ile3380Val) c.8542A>G (p.Ile2848Val) n.10678A>G n.3145+7351T>C n.3013+7351T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51659724T= | CA1628439650 | PKHD1 | c.10402A= (p.Ile3468=) c.10273A= (p.Ile3425=) c.10264A= (p.Ile3422=) c.9760A= (p.Ile3254=) c.9691A= (p.Ile3231=) c.10157-10504A= (n.10157-10504A=) c.4477A= (p.Ile1493=) n.535+7351T= n.403+7351T= c.10327A= (p.Ile3443=) c.10207A= (p.Ile3403=) c.10138A= (p.Ile3380=) c.8542A= (p.Ile2848=) n.10678A= n.3145+7351T= n.3013+7351T= | dbSNP |