| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52025395delinsGGGGAATA | CA224077 | PKHD1 | c.4415delinsTATTCCCC (p.Cys1472LeufsTer?) c.4101+314delinsTATTCCCC (n.4101+314delinsTATTCCCC) c.3704delinsTATTCCCC (p.Cys1235LeufsTer?) c.4340delinsTATTCCCC (p.Cys1447LeufsTer?) c.4151delinsTATTCCCC (p.Cys1384LeufsTer?) c.2555delinsTATTCCCC (p.Cys852LeufsTer?) n.4691delinsTATTCCCC | ClinVar dbSNP |
| 6 | g.52025395C= | CA1628647779 | PKHD1 | c.4415G= (p.Cys1472=) c.4101+314G= (n.4101+314G=) c.3704G= (p.Cys1235=) c.4340G= (p.Cys1447=) c.4151G= (p.Cys1384=) c.2555G= (p.Cys852=) n.4691G= | dbSNP dbSNP |