| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030387C>T | CA208886 | MECP2 | c.1441G>A (p.Val481Met) c.1477G>A (p.Val493Met) c.*813G>A (n.*813G>A) c.1162G>A (p.Val388Met) c.772G>A (p.Val258Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030387C= | CA2466570094 | MECP2 | c.1441G= (p.Val481=) c.1477G= (p.Val493=) c.*813G= (n.*813G=) c.1162G= (p.Val388=) c.772G= (p.Val258=) | dbSNP |