| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47798634dup | CA016144 | FBXO11,MSH6 | c.354dup (p.Lys119Ter) c.651dup (p.Lys218Ter) n.735dup c.657dup (p.Lys220Ter) c.627+2571dup (n.627+2571dup) c.261dup (p.Lys88Ter) n.373dup c.170-9194dup (n.170-9194dup) c.*125-9194dup (n.*125-9194dup) c.481dup (p.Ter161LeuextTer29) c.*139dup (n.*139dup) c.-256dup (n.-256dup) c.648dup (p.Lys217Ter) c.-2446dup (n.-2446dup) c.468dup (p.Lys157Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47798634T= | CA2496048027 | FBXO11,MSH6 | c.354T= (p.Asp118=) c.651T= (p.Asp217=) n.735T= c.657T= (p.Asp219=) c.627+2571T= (n.627+2571T=) c.261T= (p.Asp87=) n.373T= c.170-9194A= (n.170-9194A=) c.*125-9194A= (n.*125-9194A=) c.481T= (p.Ter161=) c.*139T= (n.*139T=) c.-256T= (n.-256T=) c.648T= (p.Asp216=) c.-2446T= (n.-2446T=) c.468T= (p.Asp156=) | dbSNP dbSNP |