Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114403798del | CA10654762 | TBX5 | c.105del (p.Ser36AlafsTer?) c.-3-1874del (n.-3-1874del) n.156del c.153del (p.Ser52AlafsTer?) | ClinVar dbSNP |
12 | g.114403798dup | CA916082355 | TBX5 | c.105dup (p.Ser36GlnfsTer25) c.-3-1874dup (n.-3-1874dup) n.156dup c.153dup (p.Ser52GlnfsTer25) | ClinVar dbSNP |