| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47799460G>A | CA346745983 | FBXO11,MSH6 | c.1180G>A (p.Glu394Lys) c.1477G>A (p.Glu493Lys) n.1561G>A c.1483G>A (p.Glu495Lys) c.627+3397G>A (n.627+3397G>A) c.634G>A (p.Glu212Lys) c.1087G>A (p.Glu363Lys) c.169+8735C>T (n.169+8735C>T) c.*124+8534C>T (n.*124+8534C>T) c.*824G>A (n.*824G>A) c.571G>A (p.Glu191Lys) c.1474G>A (p.Glu492Lys) c.-1620G>A (n.-1620G>A) c.1294G>A (p.Glu432Lys) | ClinVar dbSNP |
| 2 | g.47799460G>T | CA008679 | FBXO11,MSH6 | c.1180G>T (p.Glu394Ter) c.1477G>T (p.Glu493Ter) n.1561G>T c.1483G>T (p.Glu495Ter) c.627+3397G>T (n.627+3397G>T) c.634G>T (p.Glu212Ter) c.1087G>T (p.Glu363Ter) c.169+8735C>A (n.169+8735C>A) c.*124+8534C>A (n.*124+8534C>A) c.*824G>T (n.*824G>T) c.571G>T (p.Glu191Ter) c.1474G>T (p.Glu492Ter) c.-1620G>T (n.-1620G>T) c.1294G>T (p.Glu432Ter) | ClinVar dbSNP |