| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031373G>C | CA270424 | MECP2 | c.455C>G (p.Pro152Arg) c.491C>G (p.Pro164Arg) c.65+23C>G c.*509C>G (n.*509C>G) c.468+23C>G (n.468+23C>G) n.2803C>G c.443C>G (p.Pro148Arg) c.432+23C>G (n.432+23C>G) c.176C>G (p.Pro59Arg) c.-129+23C>G (n.-129+23C>G) | ClinVar dbSNP |
| X | g.154031373G>T | CA415174698 | MECP2 | c.455C>A (p.Pro152His) c.491C>A (p.Pro164His) c.65+23C>A c.*509C>A (n.*509C>A) c.468+23C>A (n.468+23C>A) n.2803C>A c.443C>A (p.Pro148His) c.432+23C>A (n.432+23C>A) c.176C>A (p.Pro59His) c.-129+23C>A (n.-129+23C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031373G= | CA2466570999 | MECP2 | c.455C= (p.Pro152=) c.491C= (p.Pro164=) c.65+23C= c.*509C= (n.*509C=) c.468+23C= (n.468+23C=) n.2803C= c.443C= (p.Pro148=) c.432+23C= (n.432+23C=) c.176C= (p.Pro59=) c.-129+23C= (n.-129+23C=) | dbSNP |
| X | g.154031373G>A | CA415174704 | MECP2 | c.455C>T (p.Pro152Leu) c.491C>T (p.Pro164Leu) c.65+23C>T c.*509C>T (n.*509C>T) c.468+23C>T (n.468+23C>T) n.2803C>T c.443C>T (p.Pro148Leu) c.432+23C>T (n.432+23C>T) c.176C>T (p.Pro59Leu) c.-129+23C>T (n.-129+23C>T) | ClinVar dbSNP |