Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.97598900G>A | CA203948 | HOGA1 | c.337G>A (p.Glu113Lys) c.212-2957G>A (n.212-2957G>A) n.718G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97598900G>C | CA5634052 | HOGA1 | c.337G>C (p.Glu113Gln) c.212-2957G>C (n.212-2957G>C) n.718G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |