| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51748375T>C | CA3851426 | PKHD1 | c.9241A>G (p.Ile3081Val) c.9112A>G (p.Ile3038Val) c.9103A>G (p.Ile3035Val) c.8599A>G (p.Ile2867Val) c.8530A>G (p.Ile2844Val) c.3316A>G (p.Ile1106Val) c.9166A>G (p.Ile3056Val) c.9046A>G (p.Ile3016Val) c.8977A>G (p.Ile2993Val) c.7381A>G (p.Ile2461Val) n.9517A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.51748375T= | CA1628503278 | PKHD1 | c.9241A= (p.Ile3081=) c.9112A= (p.Ile3038=) c.9103A= (p.Ile3035=) c.8599A= (p.Ile2867=) c.8530A= (p.Ile2844=) c.3316A= (p.Ile1106=) c.9166A= (p.Ile3056=) c.9046A= (p.Ile3016=) c.8977A= (p.Ile2993=) c.7381A= (p.Ile2461=) n.9517A= | dbSNP |