| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50252520C>T | CA257397 | HDC | c.951G>A (p.Trp317Ter) n.695G>A c.714G>A (p.Trp238Ter) c.519G>A (p.Trp173Ter) c.1056G>A (p.Trp352Ter) c.828G>A (p.Trp276Ter) c.819G>A (p.Trp273Ter) c.624G>A (p.Trp208Ter) | ClinVar dbSNP |
| 15 | g.50252520C>A | CA392379899 | HDC | c.951G>T (p.Trp317Cys) n.695G>T c.714G>T (p.Trp238Cys) c.519G>T (p.Trp173Cys) c.1056G>T (p.Trp352Cys) c.828G>T (p.Trp276Cys) c.819G>T (p.Trp273Cys) c.624G>T (p.Trp208Cys) | dbSNP |