| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031446G>C | CA10558613 | MECP2 | c.382C>G (p.Gln128Glu) c.418C>G (p.Gln140Glu) c.15C>G c.*436C>G (n.*436C>G) n.2730C>G c.370C>G (p.Gln124Glu) c.103C>G (p.Gln35Glu) c.-179C>G (n.-179C>G) | dbSNP ExAC gnomAD v4 |
| X | g.154031446G>T | CA415175447 | MECP2 | c.382C>A (p.Gln128Lys) c.418C>A (p.Gln140Lys) c.15C>A c.*436C>A (n.*436C>A) n.2730C>A c.370C>A (p.Gln124Lys) c.103C>A (p.Gln35Lys) c.-179C>A (n.-179C>A) | ClinVar dbSNP |
| X | g.154031446G>A | CA270376 | MECP2 | c.382C>T (p.Gln128Ter) c.418C>T (p.Gln140Ter) c.15C>T c.*436C>T (n.*436C>T) n.2730C>T c.370C>T (p.Gln124Ter) c.103C>T (p.Gln35Ter) c.-179C>T (n.-179C>T) | ClinVar dbSNP |