| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51748665C>T | CA364424546 | PKHD1 | c.8951G>A (p.Gly2984Asp) c.8822G>A (p.Gly2941Asp) c.8813G>A (p.Gly2938Asp) c.8309G>A (p.Gly2770Asp) c.8240G>A (p.Gly2747Asp) c.3026G>A (p.Gly1009Asp) c.8876G>A (p.Gly2959Asp) c.8756G>A (p.Gly2919Asp) c.8687G>A (p.Gly2896Asp) c.7091G>A (p.Gly2364Asp) n.9227G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51748665C>G | CA10654916 | PKHD1 | c.8951G>C (p.Gly2984Ala) c.8822G>C (p.Gly2941Ala) c.8813G>C (p.Gly2938Ala) c.8309G>C (p.Gly2770Ala) c.8240G>C (p.Gly2747Ala) c.3026G>C (p.Gly1009Ala) c.8876G>C (p.Gly2959Ala) c.8756G>C (p.Gly2919Ala) c.8687G>C (p.Gly2896Ala) c.7091G>C (p.Gly2364Ala) n.9227G>C | ClinVar dbSNP |