| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2102857G>A | CA394361576 | PKD1 | c.8905C>T (p.Gln2969Ter) n.1984C>T n.549C>T n.321C>T n.214C>T n.642C>T n.2791C>T n.3041C>T c.3467C>T (n.3467C>T) n.3141C>T n.638C>T c.507C>T c.5860C>T (p.Gln1954Ter) c.8983C>T (p.Gln2995Ter) c.8959C>T (p.Gln2987Ter) c.8929C>T (p.Gln2977Ter) c.8911C>T (p.Gln2971Ter) c.8857C>T (p.Gln2953Ter) c.8776C>T (p.Gln2926Ter) c.8719C>T (p.Gln2907Ter) c.6805C>T (p.Gln2269Ter) c.5983C>T (p.Gln1995Ter) n.8998C>T c.9025C>T (p.Gln3009Ter) c.8953C>T (p.Gln2985Ter) c.8815C>T (p.Gln2939Ter) c.6901C>T (p.Gln2301Ter) | ClinVar dbSNP |
| 16 | g.2102857G>C | CA7830311 | PKD1 | c.8905C>G (p.Gln2969Glu) n.1984C>G n.549C>G n.321C>G n.214C>G n.642C>G n.2791C>G n.3041C>G c.3467C>G (n.3467C>G) n.3141C>G n.638C>G c.507C>G c.5860C>G (p.Gln1954Glu) c.8983C>G (p.Gln2995Glu) c.8959C>G (p.Gln2987Glu) c.8929C>G (p.Gln2977Glu) c.8911C>G (p.Gln2971Glu) c.8857C>G (p.Gln2953Glu) c.8776C>G (p.Gln2926Glu) c.8719C>G (p.Gln2907Glu) c.6805C>G (p.Gln2269Glu) c.5983C>G (p.Gln1995Glu) n.8998C>G c.9025C>G (p.Gln3009Glu) c.8953C>G (p.Gln2985Glu) c.8815C>G (p.Gln2939Glu) c.6901C>G (p.Gln2301Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |