| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.120647041C>T | CA340044 | HGD | c.481G>A (p.Gly161Arg) c.12G>A c.358G>A (p.Gly120Arg) c.112G>A (p.Gly38Arg) c.58G>A (p.Gly20Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120647041C= | CA1397096903 | HGD | c.481G= (p.Gly161=) c.12G= c.358G= (p.Gly120=) c.112G= (p.Gly38=) c.58G= (p.Gly20=) | dbSNP |