Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.23797718G>A | CA341697 | GALE | c.505C>T (p.Arg169Trp) c.313C>T (p.Arg105Trp) n.623C>T n.965C>T n.450C>T n.909C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.23797718G>T | CA685655 | GALE | c.505C>A (p.Arg169=) c.313C>A (p.Arg105=) n.623C>A n.965C>A n.450C>A n.909C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |