| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659907G>C | CA364437241 | PKHD1 | c.10219C>G (p.Gln3407Glu) c.10090C>G (p.Gln3364Glu) c.10081C>G (p.Gln3361Glu) c.9577C>G (p.Gln3193Glu) c.9508C>G (p.Gln3170Glu) c.10157-10687C>G (n.10157-10687C>G) c.4294C>G (p.Gln1432Glu) n.535+7534G>C n.403+7534G>C c.10144C>G (p.Gln3382Glu) c.10024C>G (p.Gln3342Glu) c.9955C>G (p.Gln3319Glu) c.8359C>G (p.Gln2787Glu) n.10495C>G n.3145+7534G>C n.3013+7534G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51659907G>A | CA275361 | PKHD1 | c.10219C>T (p.Gln3407Ter) c.10090C>T (p.Gln3364Ter) c.10081C>T (p.Gln3361Ter) c.9577C>T (p.Gln3193Ter) c.9508C>T (p.Gln3170Ter) c.10157-10687C>T (n.10157-10687C>T) c.4294C>T (p.Gln1432Ter) n.535+7534G>A n.403+7534G>A c.10144C>T (p.Gln3382Ter) c.10024C>T (p.Gln3342Ter) c.9955C>T (p.Gln3319Ter) c.8359C>T (p.Gln2787Ter) n.10495C>T n.3145+7534G>A n.3013+7534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |