| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51847966G>T | CA274412 | PKHD1 | c.7916C>A (p.Ser2639Ter) c.7274C>A (p.Ser2425Ter) c.7205C>A (p.Ser2402Ter) c.1991C>A (p.Ser664Ter) c.7841C>A (p.Ser2614Ter) c.7652C>A (p.Ser2551Ter) c.6056C>A (p.Ser2019Ter) n.8192C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51847966G= | CA1628559739 | PKHD1 | c.7916C= (p.Ser2639=) c.7274C= (p.Ser2425=) c.7205C= (p.Ser2402=) c.1991C= (p.Ser664=) c.7841C= (p.Ser2614=) c.7652C= (p.Ser2551=) c.6056C= (p.Ser2019=) n.8192C= | dbSNP |