| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2118760del | CA204352 | PKD1 | c.445del (p.Gln149SerfsTer?) c.499del (p.Gln167SerfsTer?) c.427del (p.Gln143SerfsTer?) c.373del (p.Gln125SerfsTer?) c.292del (p.Gln98SerfsTer?) c.235del (p.Gln79SerfsTer?) n.514del | ClinVar dbSNP |
| 16 | g.2118760G= | CA3217640348 | PKD1 | c.445C= (p.Gln149=) c.499C= (p.Gln167=) c.427C= (p.Gln143=) c.373C= (p.Gln125=) c.292C= (p.Gln98=) c.235C= (p.Gln79=) n.514C= | dbSNP dbSNP |