| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030648C>A | CA121697 | MECP2 | c.1180G>T (p.Glu394Ter) c.1216G>T (p.Glu406Ter) c.*552G>T (n.*552G>T) c.901G>T (p.Glu301Ter) c.511G>T (p.Glu171Ter) | ClinVar dbSNP |
| X | g.154030648C>T | CA170197 | MECP2 | c.1180G>A (p.Glu394Lys) c.1216G>A (p.Glu406Lys) c.*552G>A (n.*552G>A) c.901G>A (p.Glu301Lys) c.511G>A (p.Glu171Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030648C>G | CA415167379 | MECP2 | c.1180G>C (p.Glu394Gln) c.1216G>C (p.Glu406Gln) c.*552G>C (n.*552G>C) c.901G>C (p.Glu301Gln) c.511G>C (p.Glu171Gln) | dbSNP gnomAD v3 gnomAD v4 |