| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031326G>A | CA256092 | MECP2 | c.502C>T (p.Arg168Ter) c.538C>T (p.Arg180Ter) c.65+70C>T c.469-40C>T (n.469-40C>T) n.2850C>T c.488C>T (p.Ala163Val) c.490C>T (p.Arg164Ter) c.433-40C>T (n.433-40C>T) c.223C>T (p.Arg75Ter) c.-128-40C>T (n.-128-40C>T) | ClinVar dbSNP |
| X | g.154031326G>T | CA274594 | MECP2 | c.502C>A (p.Arg168=) c.538C>A (p.Arg180=) c.65+70C>A c.469-40C>A (n.469-40C>A) n.2850C>A c.488C>A (p.Ala163Glu) c.490C>A (p.Arg164=) c.433-40C>A (n.433-40C>A) c.223C>A (p.Arg75=) c.-128-40C>A (n.-128-40C>A) | ClinVar dbSNP |
| X | g.154031326G= | CA2466570969 | MECP2 | c.502C= (p.Arg168=) c.538C= (p.Arg180=) c.65+70C= c.469-40C= (n.469-40C=) n.2850C= c.488C= (p.Ala163=) c.490C= (p.Arg164=) c.433-40C= (n.433-40C=) c.223C= (p.Arg75=) c.-128-40C= (n.-128-40C=) | dbSNP |