Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31110247C>G | CA10604237 | BCKDK | c.466C>G (p.Arg156Gly) c.439C>G (p.Arg147Gly) n.967C>G | ClinVar dbSNP gnomAD v4 |
16 | g.31110247C>T | CA130509 | BCKDK | c.466C>T (p.Arg156Ter) c.439C>T (p.Arg147Ter) n.967C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31110247C>A | CA494704990 | BCKDK | c.466C>A (p.Arg156=) c.439C>A (p.Arg147=) n.967C>A | dbSNP gnomAD v4 |