| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2108868G>A | CA7831644 | PKD1 | c.6299C>T (p.Ser2100Leu) n.311-1920C>T c.234-1920C>T n.791-1920C>T c.986C>T (p.Ser329Leu) c.473-510C>T n.774-1920C>T c.2227-1920C>T (n.2227-1920C>T) n.422-1920C>T c.3254C>T (p.Ser1085Leu) c.6377C>T (p.Ser2126Leu) c.6353C>T (p.Ser2118Leu) c.6323C>T (p.Ser2108Leu) c.6305C>T (p.Ser2102Leu) c.6251C>T (p.Ser2084Leu) c.6170C>T (p.Ser2057Leu) c.6113C>T (p.Ser2038Leu) c.4199C>T (p.Ser1400Leu) c.3377C>T (p.Ser1126Leu) n.6392C>T c.6419C>T (p.Ser2140Leu) c.6347C>T (p.Ser2116Leu) c.6209C>T (p.Ser2070Leu) c.4295C>T (p.Ser1432Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2108868G>T | CA16609456 | PKD1 | c.6299C>A (p.Ser2100Ter) n.311-1920C>A c.234-1920C>A n.791-1920C>A c.986C>A (p.Ser329Ter) c.473-510C>A n.774-1920C>A c.2227-1920C>A (n.2227-1920C>A) n.422-1920C>A c.3254C>A (p.Ser1085Ter) c.6377C>A (p.Ser2126Ter) c.6353C>A (p.Ser2118Ter) c.6323C>A (p.Ser2108Ter) c.6305C>A (p.Ser2102Ter) c.6251C>A (p.Ser2084Ter) c.6170C>A (p.Ser2057Ter) c.6113C>A (p.Ser2038Ter) c.4199C>A (p.Ser1400Ter) c.3377C>A (p.Ser1126Ter) n.6392C>A c.6419C>A (p.Ser2140Ter) c.6347C>A (p.Ser2116Ter) c.6209C>A (p.Ser2070Ter) c.4295C>A (p.Ser1432Ter) | ClinVar dbSNP gnomAD v4 |