| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.79983913C>A | CA16604726 | ANTXR2 | c.1144G>T (p.Gly382Cys) c.913G>T (p.Gly305Cys) c.835G>T (p.Gly279Cys) c.*294G>T (n.*294G>T) | ClinVar dbSNP |
| 4 | g.79983913C>T | CA357471460 | ANTXR2 | c.1144G>A (p.Gly382Ser) c.913G>A (p.Gly305Ser) c.835G>A (p.Gly279Ser) c.*294G>A (n.*294G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |