| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030642_154030669del | CA210627 | MECP2 | c.1161_1188del (p.Pro388ArgfsTer12) c.1197_1224del (p.Pro400ArgfsTer12) c.*533_*560del (n.*533_*560del) c.882_909del (p.Pro295ArgfsTer12) c.492_519del (p.Pro165ArgfsTer12) | dbSNP ExAC gnomAD v2 |
| X | g.154030641_154030669del | CA270240 | MECP2 | c.1160_1188del (p.Pro387ArgfsTer8) c.1196_1224del (p.Pro399ArgfsTer8) c.*532_*560del (n.*532_*560del) c.881_909del (p.Pro294ArgfsTer8) c.491_519del (p.Pro164ArgfsTer8) | ClinVar dbSNP |