| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659714A>C | CA253016 | PKHD1 | c.10412T>G (p.Val3471Gly) c.10283T>G (p.Val3428Gly) c.10274T>G (p.Val3425Gly) c.9770T>G (p.Val3257Gly) c.9701T>G (p.Val3234Gly) c.10157-10494T>G (n.10157-10494T>G) c.4487T>G (p.Val1496Gly) n.535+7341A>C n.403+7341A>C c.10337T>G (p.Val3446Gly) c.10217T>G (p.Val3406Gly) c.10148T>G (p.Val3383Gly) c.8552T>G (p.Val2851Gly) n.10688T>G n.3145+7341A>C n.3013+7341A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51659714A>G | CA364435686 | PKHD1 | c.10412T>C (p.Val3471Ala) c.10283T>C (p.Val3428Ala) c.10274T>C (p.Val3425Ala) c.9770T>C (p.Val3257Ala) c.9701T>C (p.Val3234Ala) c.10157-10494T>C (n.10157-10494T>C) c.4487T>C (p.Val1496Ala) n.535+7341A>G n.403+7341A>G c.10337T>C (p.Val3446Ala) c.10217T>C (p.Val3406Ala) c.10148T>C (p.Val3383Ala) c.8552T>C (p.Val2851Ala) n.10688T>C n.3145+7341A>G n.3013+7341A>G | dbSNP gnomAD v4 |
| 6 | g.51659714A= | CA1628439620 | PKHD1 | c.10412T= (p.Val3471=) c.10283T= (p.Val3428=) c.10274T= (p.Val3425=) c.9770T= (p.Val3257=) c.9701T= (p.Val3234=) c.10157-10494T= (n.10157-10494T=) c.4487T= (p.Val1496=) n.535+7341A= n.403+7341A= c.10337T= (p.Val3446=) c.10217T= (p.Val3406=) c.10148T= (p.Val3383=) c.8552T= (p.Val2851=) n.10688T= n.3145+7341A= n.3013+7341A= | dbSNP |