| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2114843A>C | CA394389171 | PKD1 | c.2180T>G (p.Leu727Arg) c.472+2646T>G c.1111T>G (n.1111T>G) c.2234T>G (p.Leu745Arg) c.2162T>G (p.Leu721Arg) c.2108T>G (p.Leu703Arg) c.2027T>G (p.Leu676Arg) c.1970T>G (p.Leu657Arg) c.56T>G (p.Leu19Arg) n.2249T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.2114843A>G | CA276782871 | PKD1 | c.2180T>C (p.Leu727Pro) c.472+2646T>C c.1111T>C (n.1111T>C) c.2234T>C (p.Leu745Pro) c.2162T>C (p.Leu721Pro) c.2108T>C (p.Leu703Pro) c.2027T>C (p.Leu676Pro) c.1970T>C (p.Leu657Pro) c.56T>C (p.Leu19Pro) n.2249T>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.2114843A>T | CA394389169 | PKD1 | c.2180T>A (p.Leu727Gln) c.472+2646T>A c.1111T>A (n.1111T>A) c.2234T>A (p.Leu745Gln) c.2162T>A (p.Leu721Gln) c.2108T>A (p.Leu703Gln) c.2027T>A (p.Leu676Gln) c.1970T>A (p.Leu657Gln) c.56T>A (p.Leu19Gln) n.2249T>A | ClinVar dbSNP |