| 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 |
| X | g.154030501C= | CA2466570169 | MECP2 | c.1327G= (p.Ala443=) c.1363G= (p.Ala455=) c.*699G= (n.*699G=) c.1048G= (p.Ala350=) c.658G= (p.Ala220=) | dbSNP |
| X | g.154030501C>A | CA415164562 | MECP2 | c.1327G>T (p.Ala443Ser) c.1363G>T (p.Ala455Ser) c.*699G>T (n.*699G>T) c.1048G>T (p.Ala350Ser) c.658G>T (p.Ala220Ser) | dbSNP gnomAD v4 |