| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.36663232A>T | CA123441 | PAX9 | c.340A>T (p.Lys114Ter) c.-222A>T (n.-222A>T) | ClinVar dbSNP |
| 14 | g.36663232A>C | CA7158941 | PAX9 | c.340A>C (p.Lys114Gln) c.-222A>C (n.-222A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.36663232A= | CA2129502561 | PAX9 | c.340A= (p.Lys114=) c.-222A= (n.-222A=) | dbSNP |