Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.46922414C>G | CA8038815 | GPT2 | c.1210C>G (p.Arg404Gly) c.910C>G (p.Arg304Gly) n.1720C>G c.778C>G (p.Arg260Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.46922414C>T | CA8038814 | GPT2 | c.1210C>T (p.Arg404Ter) c.910C>T (p.Arg304Ter) n.1720C>T c.778C>T (p.Arg260Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |