| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121839998G>C | CA115065 | HPD | c.1005C>G (p.Ile335Met) c.888C>G (p.Ile296Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121839998G>T | CA482192851 | HPD | c.1005C>A (p.Ile335=) c.888C>A (p.Ile296=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121839998G= | CA2068101893 | HPD | c.1005C= (p.Ile335=) c.888C= (p.Ile296=) | dbSNP |