| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154030930C>T | CA170394 | MECP2 | c.898G>A (p.Val300Ile) c.934G>A (p.Val312Ile) c.72G>A c.*270G>A (n.*270G>A) c.884G>A (p.Arg295His) c.619G>A (p.Val207Ile) c.229G>A (p.Val77Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030930C>G | CA415169214 | MECP2 | c.898G>C (p.Val300Leu) c.934G>C (p.Val312Leu) c.72G>C c.*270G>C (n.*270G>C) c.884G>C (p.Arg295Pro) c.619G>C (p.Val207Leu) c.229G>C (p.Val77Leu) | ClinVar dbSNP |
| X | g.154030930C= | CA2466570743 | MECP2 | c.898G= (p.Val300=) c.934G= (p.Val312=) c.72G= c.*270G= (n.*270G=) c.884G= (p.Arg295=) c.619G= (p.Val207=) c.229G= (p.Val77=) | dbSNP dbSNP |