| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.148489398G>A | CA348724863 | MBD5 | c.1503G>A c.3067G>A (p.Glu1023Lys) c.3766G>A (p.Glu1256Lys) c.2972+3448G>A n.848G>A n.4995G>A n.4078G>A n.3379G>A | ClinVar dbSNP |
| 2 | g.148489398G>T | CA16617236 | MBD5 | c.1503G>T c.3067G>T (p.Glu1023Ter) c.3766G>T (p.Glu1256Ter) c.2972+3448G>T n.848G>T n.4995G>T n.4078G>T n.3379G>T | ClinVar dbSNP |