| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.97599094C>T | CA203950 | HOGA1 | c.346C>T (p.Gln116Ter) c.212-2763C>T (n.212-2763C>T) n.727C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.97599094C>A | CA5634072 | HOGA1 | c.346C>A (p.Gln116Lys) c.212-2763C>A (n.212-2763C>A) n.727C>A | dbSNP ExAC gnomAD v2 |
| 10 | g.97599094C= | CA1930505199 | HOGA1 | c.346C= (p.Gln116=) c.212-2763C= (n.212-2763C=) n.727C= | dbSNP |