Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31558135C>T | CA3713684 | NFKBIL1 | c.670C>T (p.Arg224Cys) c.625C>T (p.Arg209Cys) c.601C>T (p.Arg201Cys) c.556C>T (p.Arg186Cys) n.117-7576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31558135C>G | CA363333452 | NFKBIL1 | c.670C>G (p.Arg224Gly) c.625C>G (p.Arg209Gly) c.601C>G (p.Arg201Gly) c.556C>G (p.Arg186Gly) n.117-7576G>C | dbSNP |