| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47798721_47798724del | CA1139657004 | FBXO11,MSH6 | c.441_444del (p.Lys147AsnfsTer?) c.738_741del (p.Lys246AsnfsTer?) n.822_825del c.744_747del (p.Lys248AsnfsTer?) c.627+2658_627+2661del (n.627+2658_627+2661del) c.348_351del (p.Lys116AsnfsTer?) n.460_463del c.170-9281_170-9278del (n.170-9281_170-9278del) c.*124+9273_*124+9276del (n.*124+9273_*124+9276del) c.*85_*88del (n.*85_*88del) c.*226_*229del (n.*226_*229del) c.-169_-166del (n.-169_-166del) c.735_738del (p.Lys245AsnfsTer?) c.-2359_-2356del (n.-2359_-2356del) c.555_558del (p.Lys185AsnfsTer?) | ClinVar dbSNP |
| 2 | g.47798724del | CA10582041 | FBXO11,MSH6 | c.444del (p.Lys148AsnfsTer?) c.741del (p.Lys247AsnfsTer?) n.825del c.747del (p.Lys249AsnfsTer?) c.627+2661del (n.627+2661del) c.351del (p.Lys117AsnfsTer?) n.463del c.170-9278del (n.170-9278del) c.*124+9276del (n.*124+9276del) c.*88del (n.*88del) c.*229del (n.*229del) c.-166del (n.-166del) c.738del (p.Lys246AsnfsTer?) c.-2356del (n.-2356del) c.558del (p.Lys186AsnfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.47798724dup | CA16610928 | FBXO11,MSH6 | c.444dup (p.Arg149ThrfsTer8) c.741dup (p.Arg248ThrfsTer8) n.825dup c.747dup (p.Arg250ThrfsTer8) c.627+2661dup (n.627+2661dup) c.351dup (p.Arg118ThrfsTer8) n.463dup c.170-9278dup (n.170-9278dup) c.444dup (p.Arg149ThrfsTer?) c.*124+9276dup (n.*124+9276dup) c.*88dup (n.*88dup) c.*229dup (n.*229dup) c.-166dup (n.-166dup) c.738dup (p.Arg247ThrfsTer8) c.-2356dup (n.-2356dup) c.558dup (p.Arg187ThrfsTer8) | ClinVar dbSNP gnomAD v4 COSMIC |