| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51659417G>C | CA16041025 | PKHD1 | c.10709C>G (p.Ser3570Ter) c.10580C>G (p.Ser3527Ter) c.10571C>G (p.Ser3524Ter) c.10067C>G (p.Ser3356Ter) c.9998C>G (p.Ser3333Ter) c.10157-10197C>G (n.10157-10197C>G) c.4784C>G (p.Ser1595Ter) n.535+7044G>C n.403+7044G>C c.10634C>G (p.Ser3545Ter) c.10514C>G (p.Ser3505Ter) c.10445C>G (p.Ser3482Ter) c.8849C>G (p.Ser2950Ter) n.10985C>G n.3145+7044G>C n.3013+7044G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51659417G= | CA1628439037 | PKHD1 | c.10709C= (p.Ser3570=) c.10580C= (p.Ser3527=) c.10571C= (p.Ser3524=) c.10067C= (p.Ser3356=) c.9998C= (p.Ser3333=) c.10157-10197C= (n.10157-10197C=) c.4784C= (p.Ser1595=) n.535+7044G= n.403+7044G= c.10634C= (p.Ser3545=) c.10514C= (p.Ser3505=) c.10445C= (p.Ser3482=) c.8849C= (p.Ser2950=) n.10985C= n.3145+7044G= n.3013+7044G= | dbSNP |