| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.9980681G>A | CA116941 | SLC2A9 | c.592C>T (p.Arg198Cys) c.505C>T (p.Arg169Cys) n.626C>T c.196C>T (p.Arg66Cys) c.184C>T (p.Arg62Cys) c.34C>T (p.Arg12Cys) n.688C>T c.130C>T (p.Arg44Cys) c.205C>T (p.Arg69Cys) n.765C>T n.769C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.9980681G>C | CA356362902 | SLC2A9 | c.592C>G (p.Arg198Gly) c.505C>G (p.Arg169Gly) n.626C>G c.196C>G (p.Arg66Gly) c.184C>G (p.Arg62Gly) c.34C>G (p.Arg12Gly) n.688C>G c.130C>G (p.Arg44Gly) c.205C>G (p.Arg69Gly) n.765C>G n.769C>G | dbSNP |
| 4 | g.9980681G= | CA1437785918 | SLC2A9 | c.592C= (p.Arg198=) c.505C= (p.Arg169=) n.626C= c.196C= (p.Arg66=) c.184C= (p.Arg62=) c.34C= (p.Arg12=) n.688C= c.130C= (p.Arg44=) c.205C= (p.Arg69=) n.765C= n.769C= | dbSNP |