| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031098G>C | CA415172213 | MECP2 | c.730C>G (p.Gln244Glu) c.766C>G (p.Gln256Glu) c.66-162C>G c.*102C>G (n.*102C>G) c.718C>G (p.Gln240Glu) c.451C>G (p.Gln151Glu) c.61C>G (p.Gln21Glu) | dbSNP gnomAD v4 |
| X | g.154031098G>A | CA202766 | MECP2 | c.730C>T (p.Gln244Ter) c.766C>T (p.Gln256Ter) c.66-162C>T c.*102C>T (n.*102C>T) c.718C>T (p.Gln240Ter) c.451C>T (p.Gln151Ter) c.61C>T (p.Gln21Ter) | ClinVar dbSNP |