| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52010452A>G | CA450417445 | PKHD1 | c.5608T>C (p.Leu1870=) c.4966T>C (p.Leu1656=) c.4897T>C (p.Leu1633=) c.5533T>C (p.Leu1845=) c.5344T>C (p.Leu1782=) c.3748T>C (p.Leu1250=) n.5884T>C | dbSNP |
| 6 | g.52010452A>T | CA364423587 | PKHD1 | c.5608T>A (p.Leu1870Met) c.4966T>A (p.Leu1656Met) c.4897T>A (p.Leu1633Met) c.5533T>A (p.Leu1845Met) c.5344T>A (p.Leu1782Met) c.3748T>A (p.Leu1250Met) n.5884T>A | dbSNP gnomAD v4 |
| 6 | g.52010452A>C | CA149514 | PKHD1 | c.5608T>G (p.Leu1870Val) c.4966T>G (p.Leu1656Val) c.4897T>G (p.Leu1633Val) c.5533T>G (p.Leu1845Val) c.5344T>G (p.Leu1782Val) c.3748T>G (p.Leu1250Val) n.5884T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |