| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031299T>A | CA232983 | MECP2 | c.529A>T (p.Lys177Ter) c.565A>T (p.Lys189Ter) c.65+97A>T c.469-13A>T (n.469-13A>T) n.2877A>T c.517A>T (p.Lys173Ter) c.433-13A>T (n.433-13A>T) c.250A>T (p.Lys84Ter) c.-128-13A>T (n.-128-13A>T) | ClinVar dbSNP |
| X | g.154031299T>C | CA10558597 | MECP2 | c.529A>G (p.Lys177Glu) c.565A>G (p.Lys189Glu) c.65+97A>G c.469-13A>G (n.469-13A>G) n.2877A>G c.517A>G (p.Lys173Glu) c.433-13A>G (n.433-13A>G) c.250A>G (p.Lys84Glu) c.-128-13A>G (n.-128-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |