Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47799404_47799405del | CA2499216101 | FBXO11,MSH6 | c.1124_1125del (p.Val375AlafsTer5) c.1421_1422del (p.Val474AlafsTer5) n.1505_1506del c.1427_1428del (p.Val476AlafsTer5) c.627+3341_627+3342del (n.627+3341_627+3342del) c.578_579del (p.Val193AlafsTer5) c.1031_1032del (p.Val344AlafsTer5) c.169+8791_169+8792del (n.169+8791_169+8792del) c.*124+8590_*124+8591del (n.*124+8590_*124+8591del) c.*768_*769del (n.*768_*769del) c.515_516del (p.Val172AlafsTer5) c.1418_1419del (p.Val473AlafsTer5) c.-1676_-1675del (n.-1676_-1675del) c.1238_1239del (p.Val413AlafsTer5) | ClinVar dbSNP |
2 | g.47799404_47799405dup | CA008601 | FBXO11,MSH6 | c.1124_1125dup (p.Gln376CysfsTer7) c.1421_1422dup (p.Gln475CysfsTer7) n.1505_1506dup c.1427_1428dup (p.Gln477CysfsTer7) c.627+3341_627+3342dup (n.627+3341_627+3342dup) c.578_579dup (p.Gln194CysfsTer7) c.1031_1032dup (p.Gln345CysfsTer7) c.169+8791_169+8792dup (n.169+8791_169+8792dup) c.*124+8590_*124+8591dup (n.*124+8590_*124+8591dup) c.*768_*769dup (n.*768_*769dup) c.515_516dup (p.Gln173CysfsTer7) c.1418_1419dup (p.Gln474CysfsTer7) c.-1676_-1675dup (n.-1676_-1675dup) c.1238_1239dup (p.Gln414CysfsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |