| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51934319C>T | CA3852378 | PKHD1 | c.5912G>A (p.Gly1971Asp) c.5270G>A (p.Gly1757Asp) c.5201G>A (p.Gly1734Asp) c.-14G>A (n.-14G>A) c.5837G>A (p.Gly1946Asp) c.5648G>A (p.Gly1883Asp) c.4052G>A (p.Gly1351Asp) n.6188G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51934319C= | CA1628551218 | PKHD1 | c.5912G= (p.Gly1971=) c.5270G= (p.Gly1757=) c.5201G= (p.Gly1734=) c.-14G= (n.-14G=) c.5837G= (p.Gly1946=) c.5648G= (p.Gly1883=) c.4052G= (p.Gly1351=) n.6188G= | dbSNP |