| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51867877dup | CA275289 | PKHD1 | c.7719dup (p.Met2574TyrfsTer10) c.7077dup (p.Met2360TyrfsTer10) c.7008dup (p.Met2337TyrfsTer10) c.1794dup (p.Met599TyrfsTer10) c.7644dup (p.Met2549TyrfsTer10) c.7455dup (p.Met2486TyrfsTer10) c.5859dup (p.Met1954TyrfsTer10) n.7995dup | ClinVar dbSNP |
| 6 | g.51867877A= | CA1628582914 | PKHD1 | c.7719T= (p.Arg2573=) c.7077T= (p.Arg2359=) c.7008T= (p.Arg2336=) c.1794T= (p.Arg598=) c.7644T= (p.Arg2548=) c.7455T= (p.Arg2485=) c.5859T= (p.Arg1953=) n.7995T= | dbSNP dbSNP |