| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031145G>A | CA415172589 | MECP2 | c.683C>T (p.Thr228Ile) c.719C>T (p.Thr240Ile) c.66-209C>T c.*55C>T (n.*55C>T) c.671C>T (p.Thr224Ile) c.404C>T (p.Thr135Ile) c.14C>T (p.Thr5Ile) | dbSNP |
| X | g.154031145G>C | CA172571 | MECP2 | c.683C>G (p.Thr228Ser) c.719C>G (p.Thr240Ser) c.66-209C>G c.*55C>G (n.*55C>G) c.671C>G (p.Thr224Ser) c.404C>G (p.Thr135Ser) c.14C>G (p.Thr5Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |