| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51903683G>A | CA16041045 | PKHD1 | c.6910C>T (p.Gln2304Ter) c.6268C>T (p.Gln2090Ter) c.6199C>T (p.Gln2067Ter) c.985C>T (p.Gln329Ter) c.6835C>T (p.Gln2279Ter) c.6646C>T (p.Gln2216Ter) c.5050C>T (p.Gln1684Ter) n.7186C>T | ClinVar dbSNP |
| 6 | g.51903683G>T | CA364429932 | PKHD1 | c.6910C>A (p.Gln2304Lys) c.6268C>A (p.Gln2090Lys) c.6199C>A (p.Gln2067Lys) c.985C>A (p.Gln329Lys) c.6835C>A (p.Gln2279Lys) c.6646C>A (p.Gln2216Lys) c.5050C>A (p.Gln1684Lys) n.7186C>A | dbSNP gnomAD v2 gnomAD v4 |