| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25015704C>A | CA171156 | ARX | c.34G>T (p.Glu12Ter) n.36-59G>T n.68-59G>T | ClinVar dbSNP gnomAD v4 |
| X | g.25015704C>G | CA10373919 | ARX | c.34G>C (p.Glu12Gln) n.36-59G>C n.68-59G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25015704C>T | CA412614045 | ARX | c.34G>A (p.Glu12Lys) n.36-59G>A n.68-59G>A | ClinVar dbSNP |
| X | g.25015704C= | CA2420210148 | ARX | c.34G= (p.Glu12=) n.36-59G= n.68-59G= | dbSNP |