Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44149992G>A | CA126209 | GCK | c.*554C>T (n.*554C>T) c.556C>T (p.Arg186Ter) n.1042C>T c.559C>T (p.Arg187Ter) c.553C>T (p.Arg185Ter) c.505C>T (p.Arg169Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44149992G>T | CA4239607 | GCK | c.*554C>A (n.*554C>A) c.556C>A (p.Arg186=) n.1042C>A c.559C>A (p.Arg187=) c.553C>A (p.Arg185=) c.505C>A (p.Arg169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |