| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51885888C>T | CA275278 | PKHD1 | c.7194G>A (p.Trp2398Ter) c.6552G>A (p.Trp2184Ter) c.6483G>A (p.Trp2161Ter) c.1269G>A (p.Trp423Ter) c.7119G>A (p.Trp2373Ter) c.6930G>A (p.Trp2310Ter) c.5334G>A (p.Trp1778Ter) n.7470G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51885888C>A | CA364423234 | PKHD1 | c.7194G>T (p.Trp2398Cys) c.6552G>T (p.Trp2184Cys) c.6483G>T (p.Trp2161Cys) c.1269G>T (p.Trp423Cys) c.7119G>T (p.Trp2373Cys) c.6930G>T (p.Trp2310Cys) c.5334G>T (p.Trp1778Cys) n.7470G>T | dbSNP gnomAD v4 |
| 6 | g.51885888C= | CA1628594792 | PKHD1 | c.7194G= (p.Trp2398=) c.6552G= (p.Trp2184=) c.6483G= (p.Trp2161=) c.1269G= (p.Trp423=) c.7119G= (p.Trp2373=) c.6930G= (p.Trp2310=) c.5334G= (p.Trp1778=) n.7470G= | dbSNP |