Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154032312del | CA294614 | MECP2 | c.275del (p.Gly92AspfsTer?) c.311del (p.Gly104AspfsTer?) c.*329del (n.*329del) n.2623del c.263del (p.Gly88AspfsTer?) c.-5del (n.-5del) c.-286del (n.-286del) | ClinVar dbSNP |
X | g.154032312dup | CA270312 | MECP2 | c.275dup (p.Pro93ThrfsTer4) c.311dup (p.Pro105ThrfsTer4) c.*329dup (n.*329dup) n.2623dup c.263dup (p.Pro89ThrfsTer4) c.-5dup (n.-5dup) c.-286dup (n.-286dup) | ClinVar dbSNP |
X | g.154032311_154032312dup | CA915952032 | MECP2 | c.274_275dup (p.Pro93AspfsTer?) c.310_311dup (p.Pro105AspfsTer?) c.*328_*329dup (n.*328_*329dup) n.2622_2623dup c.262_263dup (p.Pro89AspfsTer?) c.-6_-5dup (n.-6_-5dup) c.-287_-286dup (n.-287_-286dup) | ClinVar dbSNP |