| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51748563G>A | CA253010 | PKHD1 | c.9053C>T (p.Ser3018Phe) c.8924C>T (p.Ser2975Phe) c.8915C>T (p.Ser2972Phe) c.8411C>T (p.Ser2804Phe) c.8342C>T (p.Ser2781Phe) c.3128C>T (p.Ser1043Phe) c.8978C>T (p.Ser2993Phe) c.8858C>T (p.Ser2953Phe) c.8789C>T (p.Ser2930Phe) c.7193C>T (p.Ser2398Phe) n.9329C>T | ClinVar dbSNP |
| 6 | g.51748563G>C | CA364424070 | PKHD1 | c.9053C>G (p.Ser3018Cys) c.8924C>G (p.Ser2975Cys) c.8915C>G (p.Ser2972Cys) c.8411C>G (p.Ser2804Cys) c.8342C>G (p.Ser2781Cys) c.3128C>G (p.Ser1043Cys) c.8978C>G (p.Ser2993Cys) c.8858C>G (p.Ser2953Cys) c.8789C>G (p.Ser2930Cys) c.7193C>G (p.Ser2398Cys) n.9329C>G | dbSNP gnomAD v4 |
| 6 | g.51748563G>T | CA364424071 | PKHD1 | c.9053C>A (p.Ser3018Tyr) c.8924C>A (p.Ser2975Tyr) c.8915C>A (p.Ser2972Tyr) c.8411C>A (p.Ser2804Tyr) c.8342C>A (p.Ser2781Tyr) c.3128C>A (p.Ser1043Tyr) c.8978C>A (p.Ser2993Tyr) c.8858C>A (p.Ser2953Tyr) c.8789C>A (p.Ser2930Tyr) c.7193C>A (p.Ser2398Tyr) n.9329C>A | dbSNP |
| 6 | g.51748563G= | CA1628503757 | PKHD1 | c.9053C= (p.Ser3018=) c.8924C= (p.Ser2975=) c.8915C= (p.Ser2972=) c.8411C= (p.Ser2804=) c.8342C= (p.Ser2781=) c.3128C= (p.Ser1043=) c.8978C= (p.Ser2993=) c.8858C= (p.Ser2953=) c.8789C= (p.Ser2930=) c.7193C= (p.Ser2398=) n.9329C= | dbSNP |