Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47799173_47799174del | CA008276 | FBXO11,MSH6 | c.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 |
2 | g.47799173_47799174dup | CA645369239 | FBXO11,MSH6 | c.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 |