| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030501C>G | CA415164539 | MECP2 | c.1327G>C (p.Ala443Pro) c.1363G>C (p.Ala455Pro) c.*699G>C (n.*699G>C) c.1048G>C (p.Ala350Pro) c.658G>C (p.Ala220Pro) | dbSNP gnomAD v2 |
| X | g.154030501C>T | CA199489 | MECP2 | c.1327G>A (p.Ala443Thr) c.1363G>A (p.Ala455Thr) c.*699G>A (n.*699G>A) c.1048G>A (p.Ala350Thr) c.658G>A (p.Ala220Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |