| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030634_154030669del | CA10558474 | MECP2 | c.1162_1197del (p.Pro388_Pro399del) c.1198_1233del (p.Pro400_Pro411del) c.*534_*569del (n.*534_*569del) c.883_918del (p.Pro295_Pro306del) c.493_528del (p.Pro165_Pro176del) | dbSNP ExAC gnomAD v2 |
| X | g.154030635_154030669del | CA232907 | MECP2 | c.1163_1197del (p.Pro388HisfsTer5) c.1199_1233del (p.Pro400HisfsTer5) c.*535_*569del (n.*535_*569del) c.884_918del (p.Pro295HisfsTer5) c.494_528del (p.Pro165HisfsTer5) | ClinVar dbSNP |