| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031431G>C | CA270387 | MECP2 | c.397C>G (p.Arg133Gly) c.433C>G (p.Arg145Gly) c.30C>G c.*451C>G (n.*451C>G) n.2745C>G c.385C>G (p.Arg129Gly) c.118C>G (p.Arg40Gly) c.-164C>G (n.-164C>G) | ClinVar dbSNP |
| X | g.154031431G>A | CA211250 | MECP2 | c.397C>T (p.Arg133Cys) c.433C>T (p.Arg145Cys) c.30C>T c.*451C>T (n.*451C>T) n.2745C>T c.385C>T (p.Arg129Cys) c.118C>T (p.Arg40Cys) c.-164C>T (n.-164C>T) | ClinVar dbSNP |
| X | g.154031431G>T | CA415175306 | MECP2 | c.397C>A (p.Arg133Ser) c.433C>A (p.Arg145Ser) c.30C>A c.*451C>A (n.*451C>A) n.2745C>A c.385C>A (p.Arg129Ser) c.118C>A (p.Arg40Ser) c.-164C>A (n.-164C>A) | ClinVar dbSNP |
| X | g.154031431G= | CA2466571034 | MECP2 | c.397C= (p.Arg133=) c.433C= (p.Arg145=) c.30C= c.*451C= (n.*451C=) n.2745C= c.385C= (p.Arg129=) c.118C= (p.Arg40=) c.-164C= (n.-164C=) | dbSNP |