| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031077_154031078dup | CA233003 | MECP2 | c.752_753dup (p.Gly252ProfsTer?) c.788_789dup (p.Gly264ProfsTer?) c.66-140_66-139dup c.*124_*125dup (n.*124_*125dup) c.740_741dup (p.Gly248ProfsTer?) c.473_474dup (p.Gly159ProfsTer?) c.83_84dup (p.Gly29ProfsTer?) | ClinVar dbSNP |
| X | g.154031078dup | CA233199 | MECP2 | c.753dup (p.Gly252ArgfsTer7) c.789dup (p.Gly264ArgfsTer7) c.66-139dup c.*125dup (n.*125dup) c.741dup (p.Gly248ArgfsTer7) c.474dup (p.Gly159ArgfsTer7) c.84dup (p.Gly29ArgfsTer7) | ClinVar dbSNP |
| X | g.154031078del | CA270517 | MECP2 | c.753del (p.Gly252AlafsTer?) c.789del (p.Gly264AlafsTer?) c.66-139del c.*125del (n.*125del) c.741del (p.Gly248AlafsTer?) c.474del (p.Gly159AlafsTer?) c.84del (p.Gly29AlafsTer?) | ClinVar dbSNP |