| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25007145G>A | CA213233 | ARX | c.1414C>T (p.Arg472Ter) c.27C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007145G>C | CA412611069 | ARX | c.1414C>G (p.Arg472Gly) c.27C>G | dbSNP |
| X | g.25007145G= | CA2420207010 | ARX | c.1414C= (p.Arg472=) c.27C= | dbSNP |