| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2109403G>A | CA119383 | PKD1 | c.5764C>T (p.Gln1922Ter) n.311-2455C>T n.431-53C>T c.233+2413C>T n.791-2455C>T c.451C>T (p.Gln151Ter) c.473-1045C>T n.774-2455C>T c.2227-2455C>T (n.2227-2455C>T) n.422-2455C>T c.2719C>T (p.Gln907Ter) c.5842C>T (p.Gln1948Ter) c.5818C>T (p.Gln1940Ter) c.5788C>T (p.Gln1930Ter) c.5770C>T (p.Gln1924Ter) c.5716C>T (p.Gln1906Ter) c.5635C>T (p.Gln1879Ter) c.5578C>T (p.Gln1860Ter) c.3664C>T (p.Gln1222Ter) c.2842C>T (p.Gln948Ter) n.5857C>T c.5884C>T (p.Gln1962Ter) c.5812C>T (p.Gln1938Ter) c.5674C>T (p.Gln1892Ter) c.3760C>T (p.Gln1254Ter) | ClinVar dbSNP |
| 16 | g.2109403G= | CA2202046265 | PKD1 | c.5764C= (p.Gln1922=) n.311-2455C= n.431-53C= c.233+2413C= n.791-2455C= c.451C= (p.Gln151=) c.473-1045C= n.774-2455C= c.2227-2455C= (n.2227-2455C=) n.422-2455C= c.2719C= (p.Gln907=) c.5842C= (p.Gln1948=) c.5818C= (p.Gln1940=) c.5788C= (p.Gln1930=) c.5770C= (p.Gln1924=) c.5716C= (p.Gln1906=) c.5635C= (p.Gln1879=) c.5578C= (p.Gln1860=) c.3664C= (p.Gln1222=) c.2842C= (p.Gln948=) n.5857C= c.5884C= (p.Gln1962=) c.5812C= (p.Gln1938=) c.5674C= (p.Gln1892=) c.3760C= (p.Gln1254=) | dbSNP |