| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51847832G>A | CA16041037 | PKHD1 | c.8050C>T (p.Gln2684Ter) c.7408C>T (p.Gln2470Ter) c.7339C>T (p.Gln2447Ter) c.2125C>T (p.Gln709Ter) c.7975C>T (p.Gln2659Ter) c.7786C>T (p.Gln2596Ter) c.6190C>T (p.Gln2064Ter) n.8326C>T | ClinVar dbSNP |
| 6 | g.51847832G= | CA1628559386 | PKHD1 | c.8050C= (p.Gln2684=) c.7408C= (p.Gln2470=) c.7339C= (p.Gln2447=) c.2125C= (p.Gln709=) c.7975C= (p.Gln2659=) c.7786C= (p.Gln2596=) c.6190C= (p.Gln2064=) n.8326C= | dbSNP |