| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030546C>T | CA121707 | MECP2 | c.1282G>A (p.Gly428Ser) c.1318G>A (p.Gly440Ser) c.*654G>A (n.*654G>A) c.1003G>A (p.Gly335Ser) c.613G>A (p.Gly205Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030546C= | CA2466570204 | MECP2 | c.1282G= (p.Gly428=) c.1318G= (p.Gly440=) c.*654G= (n.*654G=) c.1003G= (p.Gly335=) c.613G= (p.Gly205=) | dbSNP |