| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51747933G>T | CA16041032 | PKHD1 | c.9683C>A (p.Ser3228Ter) c.9554C>A (p.Ser3185Ter) c.9545C>A (p.Ser3182Ter) c.9041C>A (p.Ser3014Ter) c.8972C>A (p.Ser2991Ter) c.3758C>A (p.Ser1253Ter) c.9608C>A (p.Ser3203Ter) c.9488C>A (p.Ser3163Ter) c.9419C>A (p.Ser3140Ter) c.7823C>A (p.Ser2608Ter) n.9959C>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.51747933G= | CA1628502115 | PKHD1 | c.9683C= (p.Ser3228=) c.9554C= (p.Ser3185=) c.9545C= (p.Ser3182=) c.9041C= (p.Ser3014=) c.8972C= (p.Ser2991=) c.3758C= (p.Ser1253=) c.9608C= (p.Ser3203=) c.9488C= (p.Ser3163=) c.9419C= (p.Ser3140=) c.7823C= (p.Ser2608=) n.9959C= | dbSNP |