| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800062del | CA645514885 | FBXO11,MSH6 | c.1782del (p.Lys594AsnfsTer?) c.2079del (p.Lys693AsnfsTer?) n.2163del c.1606+473del (n.1606+473del) c.2085del (p.Lys695AsnfsTer?) c.628-3358del (n.628-3358del) c.1236del (p.Lys412AsnfsTer?) c.1689del (p.Lys563AsnfsTer?) c.169+8138del (n.169+8138del) c.*124+7937del (n.*124+7937del) c.*1426del (n.*1426del) c.1173del (p.Lys391AsnfsTer?) c.2076del (p.Lys692AsnfsTer?) c.-1018del (n.-1018del) c.1896del (p.Lys632AsnfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.47800062dup | CA197852 | FBXO11,MSH6 | c.1782dup (p.Cys595MetfsTer4) c.2079dup (p.Cys694MetfsTer4) n.2163dup c.1606+473dup (n.1606+473dup) c.2085dup (p.Cys696MetfsTer4) c.628-3358dup (n.628-3358dup) c.1236dup (p.Cys413MetfsTer4) c.1689dup (p.Cys564MetfsTer4) c.169+8138dup (n.169+8138dup) c.*124+7937dup (n.*124+7937dup) c.*1426dup (n.*1426dup) c.1173dup (p.Cys392MetfsTer4) c.2076dup (p.Cys693MetfsTer4) c.-1018dup (n.-1018dup) c.1896dup (p.Cys633MetfsTer4) | ClinVar dbSNP gnomAD v3 gnomAD v4 |