| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030635_154030668del | CA270258 | MECP2 | c.1167_1200del (p.Pro390AlafsTer8) c.1203_1236del (p.Pro402AlafsTer8) c.*539_*572del (n.*539_*572del) c.888_921del (p.Pro297AlafsTer8) c.498_531del (p.Pro167AlafsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030628_154030668delinsCCACCCCT | CA274658 | MECP2 | c.1160_1200delinsAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) c.*532_*572delinsAGGGGTGG (n.*532_*572delinsAGGGGTGG) c.881_921delinsAGGGGTGG (p.Pro294_Thr307delinsGlnGlyTrp) c.491_531delinsAGGGGTGG (p.Pro164_Thr177delinsGlnGlyTrp) | ClinVar dbSNP |