Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47408452_47408453del | CA020823 | MSH2 | c.263_264del (p.Phe88CysfsTer11) c.65_66del (p.Phe22CysfsTer11) n.335_336del n.325_326del | ClinVar dbSNP |
2 | g.47408453dup | CA020793 | MSH2 | c.264dup (p.Val89CysfsTer11) c.66dup (p.Val23CysfsTer11) n.336dup n.326dup | ClinVar dbSNP |
2 | g.47408452_47408453dup | CA1139656934 | MSH2 | c.263_264dup (p.Val89LeufsTer2) c.65_66dup (p.Val23LeufsTer2) n.335_336dup n.325_326dup | ClinVar dbSNP |