| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154031374G>C | CA121717 | MECP2 | c.454C>G (p.Pro152Ala) c.490C>G (p.Pro164Ala) c.65+22C>G c.*508C>G (n.*508C>G) c.468+22C>G (n.468+22C>G) n.2802C>G c.442C>G (p.Pro148Ala) c.432+22C>G (n.432+22C>G) c.175C>G (p.Pro59Ala) c.-129+22C>G (n.-129+22C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031374G= | CA2466571000 | MECP2 | c.454C= (p.Pro152=) c.490C= (p.Pro164=) c.65+22C= c.*508C= (n.*508C=) c.468+22C= (n.468+22C=) n.2802C= c.442C= (p.Pro148=) c.432+22C= (n.432+22C=) c.175C= (p.Pro59=) c.-129+22C= (n.-129+22C=) | dbSNP |
| X | g.154031374G>T | CA415174714 | MECP2 | c.454C>A (p.Pro152Thr) c.490C>A (p.Pro164Thr) c.65+22C>A c.*508C>A (n.*508C>A) c.468+22C>A (n.468+22C>A) n.2802C>A c.442C>A (p.Pro148Thr) c.432+22C>A (n.432+22C>A) c.175C>A (p.Pro59Thr) c.-129+22C>A (n.-129+22C>A) | ClinVar dbSNP |