| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.88729322G>A | CA3337223 | MEF2C | c.482C>T (p.Ser161Leu) c.860C>T (p.Ser287Leu) n.797C>T c.827C>T (p.Ser276Leu) c.890C>T (p.Ser297Leu) c.830C>T (p.Ser277Leu) c.836C>T (p.Ser279Leu) n.198C>T c.854C>T (p.Ser285Leu) c.716C>T (p.Ser239Leu) c.149C>T (p.Ser50Leu) c.245C>T (p.Ser82Leu) c.692C>T (p.Ser231Leu) c.410C>T (p.Ser137Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.88729322G>T | CA16618220 | MEF2C | c.482C>A (p.Ser161Ter) c.860C>A (p.Ser287Ter) n.797C>A c.827C>A (p.Ser276Ter) c.890C>A (p.Ser297Ter) c.830C>A (p.Ser277Ter) c.836C>A (p.Ser279Ter) n.198C>A c.854C>A (p.Ser285Ter) c.716C>A (p.Ser239Ter) c.149C>A (p.Ser50Ter) c.245C>A (p.Ser82Ter) c.692C>A (p.Ser231Ter) c.410C>A (p.Ser137Ter) | ClinVar dbSNP gnomAD v4 |