| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2114489A>G | CA119381 | PKD1 | c.2534T>C (p.Leu845Ser) c.472+3000T>C c.1465T>C (n.1465T>C) c.2588T>C (p.Leu863Ser) c.2516T>C (p.Leu839Ser) c.2462T>C (p.Leu821Ser) c.2381T>C (p.Leu794Ser) c.2324T>C (p.Leu775Ser) c.410T>C (p.Leu137Ser) n.2603T>C c.-516T>C (n.-516T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2114489A>T | CA394387577 | PKD1 | c.2534T>A (p.Leu845Ter) c.472+3000T>A c.1465T>A (n.1465T>A) c.2588T>A (p.Leu863Ter) c.2516T>A (p.Leu839Ter) c.2462T>A (p.Leu821Ter) c.2381T>A (p.Leu794Ter) c.2324T>A (p.Leu775Ter) c.410T>A (p.Leu137Ter) n.2603T>A c.-516T>A (n.-516T>A) | ClinVar dbSNP |
| 16 | g.2114489A= | CA2202049741 | PKD1 | c.2534T= (p.Leu845=) c.472+3000T= c.1465T= (n.1465T=) c.2588T= (p.Leu863=) c.2516T= (p.Leu839=) c.2462T= (p.Leu821=) c.2381T= (p.Leu794=) c.2324T= (p.Leu775=) c.410T= (p.Leu137=) n.2603T= c.-516T= (n.-516T=) | dbSNP |