| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031254T>A | CA260436 | MECP2 | c.574A>T (p.Lys192Ter) c.610A>T (p.Lys204Ter) c.65+142A>T c.501A>T (p.Pro167=) c.562A>T (p.Lys188Ter) c.465A>T (p.Pro155=) c.295A>T (p.Lys99Ter) c.-96A>T (n.-96A>T) | ClinVar dbSNP |
| X | g.154031254T= | CA2466570917 | MECP2 | c.574A= (p.Lys192=) c.610A= (p.Lys204=) c.65+142A= c.501A= (p.Pro167=) c.562A= (p.Lys188=) c.465A= (p.Pro155=) c.295A= (p.Lys99=) c.-96A= (n.-96A=) | dbSNP |
| X | g.154031254T>C | CA415173368 | MECP2 | c.574A>G (p.Lys192Glu) c.610A>G (p.Lys204Glu) c.65+142A>G c.501A>G (p.Pro167=) c.562A>G (p.Lys188Glu) c.465A>G (p.Pro155=) c.295A>G (p.Lys99Glu) c.-96A>G (n.-96A>G) | ClinVar dbSNP |