Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47799173_47799174delCA008276FBXO11,MSH6c.893_894del (p.Tyr298CysfsTer3)
c.1190_1191del (p.Tyr397CysfsTer3)
n.1274_1275del
c.1196_1197del (p.Tyr399CysfsTer3)
c.627+3110_627+3111del (n.627+3110_627+3111del)
c.347_348del (p.Tyr116CysfsTer3)
c.800_801del (p.Tyr267CysfsTer3)
c.169+9022_169+9023del (n.169+9022_169+9023del)
c.*124+8821_*124+8822del (n.*124+8821_*124+8822del)
c.*537_*538del (n.*537_*538del)
c.284_285del (p.Tyr95CysfsTer3)
c.1187_1188del (p.Tyr396CysfsTer3)
c.-1907_-1906del (n.-1907_-1906del)
c.1007_1008del (p.Tyr336CysfsTer3)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47799173_47799174dupCA645369239FBXO11,MSH6c.893_894dup (p.Val299MetfsTer14)
c.1190_1191dup (p.Val398MetfsTer14)
n.1274_1275dup
c.1196_1197dup (p.Val400MetfsTer14)
c.627+3110_627+3111dup (n.627+3110_627+3111dup)
c.347_348dup (p.Val117MetfsTer14)
c.800_801dup (p.Val268MetfsTer14)
c.169+9022_169+9023dup (n.169+9022_169+9023dup)
c.*124+8821_*124+8822dup (n.*124+8821_*124+8822dup)
c.*537_*538dup (n.*537_*538dup)
c.284_285dup (p.Val96MetfsTer14)
c.1187_1188dup (p.Val397MetfsTer14)
c.-1907_-1906dup (n.-1907_-1906dup)
c.1007_1008dup (p.Val337MetfsTer14)
ClinVar dbSNP

Number of alleles fetched