| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.97611514C>G | CA5634291 | HOGA1 | c.839C>G (p.Thr280Ser) c.350C>G (p.Thr117Ser) c.345+9524C>G (n.345+9524C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.97611514C>T | CA203964 | HOGA1 | c.839C>T (p.Thr280Ile) c.350C>T (p.Thr117Ile) c.345+9524C>T (n.345+9524C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611514C= | CA1930506964 | HOGA1 | c.839C= (p.Thr280=) c.350C= (p.Thr117=) c.345+9524C= (n.345+9524C=) | dbSNP |