Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47803508delCA012327FBXO11,MSH6c.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
2g.47803508dupCA012175FBXO11,MSH6c.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
2g.47803507_47803508dupCA1649449FBXO11,MSH6c.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

Number of alleles fetched