Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47803508del | CA012327 | FBXO11,MSH6 | c.2964del (p.Phe989SerfsTer2) c.3173-2110del (n.3173-2110del) n.3345del c.1695del (p.Phe566SerfsTer2) c.3267del (p.Phe1090SerfsTer2) c.716del (n.716del) c.2330-2110del (n.2330-2110del) n.2112del n.2109del n.1266del n.840del n.839del n.670del n.741del c.3261del (p.Phe1088SerfsTer2) c.2871del (p.Phe958SerfsTer2) c.169+4694del (n.169+4694del) c.*124+4493del (n.*124+4493del) c.*2608del (n.*2608del) c.2355del (p.Phe786SerfsTer2) c.165del (p.Phe56SerfsTer2) c.3078del (p.Phe1027SerfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.47803508dup | CA012175 | FBXO11,MSH6 | c.2964dup (p.Phe989LeufsTer5) c.3173-2110dup (n.3173-2110dup) n.3345dup c.1695dup (p.Phe566LeufsTer5) c.3267dup (p.Phe1090LeufsTer5) c.716dup (n.716dup) c.2330-2110dup (n.2330-2110dup) n.2112dup n.2109dup n.1266dup n.840dup n.839dup n.670dup n.741dup c.3261dup (p.Phe1088LeufsTer5) c.2871dup (p.Phe958LeufsTer5) c.169+4694dup (n.169+4694dup) c.*124+4493dup (n.*124+4493dup) c.*2608dup (n.*2608dup) c.2355dup (p.Phe786LeufsTer5) c.165dup (p.Phe56LeufsTer5) c.3078dup (p.Phe1027LeufsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.47803507_47803508dup | CA1649449 | FBXO11,MSH6 | c.2963_2964dup (p.Phe989ProfsTer3) c.3173-2111_3173-2110dup (n.3173-2111_3173-2110dup) n.3344_3345dup c.1694_1695dup (p.Phe566ProfsTer3) c.3266_3267dup (p.Phe1090ProfsTer3) c.715_716dup (n.715_716dup) c.2330-2111_2330-2110dup (n.2330-2111_2330-2110dup) n.2111_2112dup n.2108_2109dup n.1265_1266dup n.839_840dup n.838_839dup n.669_670dup n.740_741dup c.3260_3261dup (p.Phe1088ProfsTer3) c.2870_2871dup (p.Phe958ProfsTer3) c.169+4693_169+4694dup (n.169+4693_169+4694dup) c.*124+4492_*124+4493dup (n.*124+4492_*124+4493dup) c.*2607_*2608dup (n.*2607_*2608dup) c.2354_2355dup (p.Phe786ProfsTer3) c.164_165dup (p.Phe56ProfsTer3) c.3077_3078dup (p.Phe1027ProfsTer3) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |