| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2108254G>A | CA16620109 | PKD1 | c.6913C>T (p.Gln2305Ter) n.311-1306C>T n.295C>T c.234-1306C>T n.791-1306C>T c.1600C>T (p.Gln534Ter) c.577C>T n.774-1306C>T c.2227-1306C>T (n.2227-1306C>T) n.422-1306C>T c.3868C>T (p.Gln1290Ter) c.6991C>T (p.Gln2331Ter) c.6967C>T (p.Gln2323Ter) c.6937C>T (p.Gln2313Ter) c.6919C>T (p.Gln2307Ter) c.6865C>T (p.Gln2289Ter) c.6784C>T (p.Gln2262Ter) c.6727C>T (p.Gln2243Ter) c.4813C>T (p.Gln1605Ter) c.3991C>T (p.Gln1331Ter) n.7006C>T c.7033C>T (p.Gln2345Ter) c.6961C>T (p.Gln2321Ter) c.6823C>T (p.Gln2275Ter) c.4909C>T (p.Gln1637Ter) | ClinVar dbSNP |
| 16 | g.2108254G= | CA2202045454 | PKD1 | c.6913C= (p.Gln2305=) n.311-1306C= n.295C= c.234-1306C= n.791-1306C= c.1600C= (p.Gln534=) c.577C= n.774-1306C= c.2227-1306C= (n.2227-1306C=) n.422-1306C= c.3868C= (p.Gln1290=) c.6991C= (p.Gln2331=) c.6967C= (p.Gln2323=) c.6937C= (p.Gln2313=) c.6919C= (p.Gln2307=) c.6865C= (p.Gln2289=) c.6784C= (p.Gln2262=) c.6727C= (p.Gln2243=) c.4813C= (p.Gln1605=) c.3991C= (p.Gln1331=) n.7006C= c.7033C= (p.Gln2345=) c.6961C= (p.Gln2321=) c.6823C= (p.Gln2275=) c.4909C= (p.Gln1637=) | dbSNP |