| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154032268G>A | CA256089 | MECP2 | c.316C>T (p.Arg106Trp) c.352C>T (p.Arg118Trp) c.*370C>T (n.*370C>T) n.2664C>T c.304C>T (p.Arg102Trp) c.37C>T (p.Arg13Trp) c.-245C>T (n.-245C>T) | ClinVar dbSNP COSMIC |
| X | g.154032268G>C | CA270345 | MECP2 | c.316C>G (p.Arg106Gly) c.352C>G (p.Arg118Gly) c.*370C>G (n.*370C>G) n.2664C>G c.304C>G (p.Arg102Gly) c.37C>G (p.Arg13Gly) c.-245C>G (n.-245C>G) | ClinVar dbSNP |
| X | g.154032268G= | CA2466571539 | MECP2 | c.316C= (p.Arg106=) c.352C= (p.Arg118=) c.*370C= (n.*370C=) n.2664C= c.304C= (p.Arg102=) c.37C= (p.Arg13=) c.-245C= (n.-245C=) | dbSNP |