| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.176094645C>G | CA124416 | HOXD13 | c.947C>G (p.Ser316Cys) c.890C>G (p.Ser297Cys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.176094645C>A | CA1976712 | HOXD13 | c.947C>A (p.Ser316Tyr) c.890C>A (p.Ser297Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.176094645C= | CA1309432037 | HOXD13 | c.947C= (p.Ser316=) c.890C= (p.Ser297=) | dbSNP |