| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47799697C>G | CA346748599 | FBXO11,MSH6 | c.1417C>G (p.Gln473Glu) c.1714C>G (p.Gln572Glu) n.1798C>G c.1606+108C>G (n.1606+108C>G) c.1720C>G (p.Gln574Glu) c.627+3634C>G (n.627+3634C>G) c.871C>G (p.Gln291Glu) c.1324C>G (p.Gln442Glu) c.169+8498G>C (n.169+8498G>C) c.*124+8297G>C (n.*124+8297G>C) c.*1061C>G (n.*1061C>G) c.808C>G (p.Gln270Glu) c.1711C>G (p.Gln571Glu) c.-1383C>G (n.-1383C>G) c.1531C>G (p.Gln511Glu) | ClinVar dbSNP |
| 2 | g.47799697C>A | CA346748595 | FBXO11,MSH6 | c.1417C>A (p.Gln473Lys) c.1714C>A (p.Gln572Lys) n.1798C>A c.1606+108C>A (n.1606+108C>A) c.1720C>A (p.Gln574Lys) c.627+3634C>A (n.627+3634C>A) c.871C>A (p.Gln291Lys) c.1324C>A (p.Gln442Lys) c.169+8498G>T (n.169+8498G>T) c.*124+8297G>T (n.*124+8297G>T) c.*1061C>A (n.*1061C>A) c.808C>A (p.Gln270Lys) c.1711C>A (p.Gln571Lys) c.-1383C>A (n.-1383C>A) c.1531C>A (p.Gln511Lys) | dbSNP |
| 2 | g.47799697C>T | CA16617658 | FBXO11,MSH6 | c.1417C>T (p.Gln473Ter) c.1714C>T (p.Gln572Ter) n.1798C>T c.1606+108C>T (n.1606+108C>T) c.1720C>T (p.Gln574Ter) c.627+3634C>T (n.627+3634C>T) c.871C>T (p.Gln291Ter) c.1324C>T (p.Gln442Ter) c.169+8498G>A (n.169+8498G>A) c.*124+8297G>A (n.*124+8297G>A) c.*1061C>T (n.*1061C>T) c.808C>T (p.Gln270Ter) c.1711C>T (p.Gln571Ter) c.-1383C>T (n.-1383C>T) c.1531C>T (p.Gln511Ter) | ClinVar dbSNP gnomAD v4 COSMIC |