| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51887158G>A | CA16041044 | PKHD1 | c.7084C>T (p.Gln2362Ter) c.6442C>T (p.Gln2148Ter) c.6373C>T (p.Gln2125Ter) c.1159C>T (p.Gln387Ter) c.7009C>T (p.Gln2337Ter) c.6820C>T (p.Gln2274Ter) c.5224C>T (p.Gln1742Ter) n.7360C>T | ClinVar dbSNP |
| 6 | g.51887158G= | CA1628595352 | PKHD1 | c.7084C= (p.Gln2362=) c.6442C= (p.Gln2148=) c.6373C= (p.Gln2125=) c.1159C= (p.Gln387=) c.7009C= (p.Gln2337=) c.6820C= (p.Gln2274=) c.5224C= (p.Gln1742=) n.7360C= | dbSNP |