| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52054122A>T | CA274375 | PKHD1 | c.1880T>A (p.Met627Lys) c.1169T>A (p.Met390Lys) c.1805T>A (p.Met602Lys) c.20T>A (p.Met7Lys) n.2156T>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.52054122A= | CA1628595827 | PKHD1 | c.1880T= (p.Met627=) c.1169T= (p.Met390=) c.1805T= (p.Met602=) c.20T= (p.Met7=) n.2156T= | dbSNP |
| 6 | g.52054122A>C | CA364423053 | PKHD1 | c.1880T>G (p.Met627Arg) c.1169T>G (p.Met390Arg) c.1805T>G (p.Met602Arg) c.20T>G (p.Met7Arg) n.2156T>G | dbSNP gnomAD v4 |