| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2110081G>A | CA16043506 | PKD1 | c.5086C>T (p.Gln1696Ter) n.310+2259C>T n.431-731C>T c.233+1735C>T n.790+2259C>T c.473-1723C>T n.773+2259C>T c.2226+2259C>T (n.2226+2259C>T) n.421+2259C>T c.2041C>T (p.Gln681Ter) c.5164C>T (p.Gln1722Ter) c.5140C>T (p.Gln1714Ter) c.5110C>T (p.Gln1704Ter) c.5092C>T (p.Gln1698Ter) c.5038C>T (p.Gln1680Ter) c.4957C>T (p.Gln1653Ter) c.4900C>T (p.Gln1634Ter) c.2986C>T (p.Gln996Ter) c.2164C>T (p.Gln722Ter) n.5179C>T c.5206C>T (p.Gln1736Ter) c.5134C>T (p.Gln1712Ter) c.4996C>T (p.Gln1666Ter) c.3082C>T (p.Gln1028Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2110081G>C | CA394378265 | PKD1 | c.5086C>G (p.Gln1696Glu) n.310+2259C>G n.431-731C>G c.233+1735C>G n.790+2259C>G c.473-1723C>G n.773+2259C>G c.2226+2259C>G (n.2226+2259C>G) n.421+2259C>G c.2041C>G (p.Gln681Glu) c.5164C>G (p.Gln1722Glu) c.5140C>G (p.Gln1714Glu) c.5110C>G (p.Gln1704Glu) c.5092C>G (p.Gln1698Glu) c.5038C>G (p.Gln1680Glu) c.4957C>G (p.Gln1653Glu) c.4900C>G (p.Gln1634Glu) c.2986C>G (p.Gln996Glu) c.2164C>G (p.Gln722Glu) n.5179C>G c.5206C>G (p.Gln1736Glu) c.5134C>G (p.Gln1712Glu) c.4996C>G (p.Gln1666Glu) c.3082C>G (p.Gln1028Glu) | dbSNP gnomAD v4 |
| 16 | g.2110081G= | CA2202046684 | PKD1 | c.5086C= (p.Gln1696=) n.310+2259C= n.431-731C= c.233+1735C= n.790+2259C= c.473-1723C= n.773+2259C= c.2226+2259C= (n.2226+2259C=) n.421+2259C= c.2041C= (p.Gln681=) c.5164C= (p.Gln1722=) c.5140C= (p.Gln1714=) c.5110C= (p.Gln1704=) c.5092C= (p.Gln1698=) c.5038C= (p.Gln1680=) c.4957C= (p.Gln1653=) c.4900C= (p.Gln1634=) c.2986C= (p.Gln996=) c.2164C= (p.Gln722=) n.5179C= c.5206C= (p.Gln1736=) c.5134C= (p.Gln1712=) c.4996C= (p.Gln1666=) c.3082C= (p.Gln1028=) | dbSNP |