| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25010262G>T | CA412611712 | ARX | c.1117C>A (p.Gln373Lys) | dbSNP |
| X | g.25010262G>A | CA213169 | ARX | c.1117C>T (p.Gln373Ter) | ClinVar dbSNP |
| X | g.25010262G>C | CA412611713 | ARX | c.1117C>G (p.Gln373Glu) | dbSNP gnomAD v4 |
| X | g.25010262G= | CA2420208032 | ARX | c.1117C= (p.Gln373=) | dbSNP |