| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800718G>C | CA346755383 | FBXO11,MSH6 | c.2438G>C (p.Trp813Ser) c.2735G>C (p.Trp912Ser) n.2819G>C c.1606+1129G>C (n.1606+1129G>C) c.2741G>C (p.Trp914Ser) c.628-2702G>C (n.628-2702G>C) c.1892G>C (p.Trp631Ser) c.2345G>C (p.Trp782Ser) c.169+7477C>G (n.169+7477C>G) c.*124+7276C>G (n.*124+7276C>G) c.*2082G>C (n.*2082G>C) c.1829G>C (p.Trp610Ser) c.2732G>C (p.Trp911Ser) c.-362G>C (n.-362G>C) c.2552G>C (p.Trp851Ser) | dbSNP |
| 2 | g.47800718G>A | CA16610918 | FBXO11,MSH6 | c.2438G>A (p.Trp813Ter) c.2735G>A (p.Trp912Ter) n.2819G>A c.1606+1129G>A (n.1606+1129G>A) c.2741G>A (p.Trp914Ter) c.628-2702G>A (n.628-2702G>A) c.1892G>A (p.Trp631Ter) c.2345G>A (p.Trp782Ter) c.169+7477C>T (n.169+7477C>T) c.*124+7276C>T (n.*124+7276C>T) c.*2082G>A (n.*2082G>A) c.1829G>A (p.Trp610Ter) c.2732G>A (p.Trp911Ter) c.-362G>A (n.-362G>A) c.2552G>A (p.Trp851Ter) | ClinVar dbSNP |
| 2 | g.47800718G= | CA2496049799 | FBXO11,MSH6 | c.2438G= (p.Trp813=) c.2735G= (p.Trp912=) n.2819G= c.1606+1129G= (n.1606+1129G=) c.2741G= (p.Trp914=) c.628-2702G= (n.628-2702G=) c.1892G= (p.Trp631=) c.2345G= (p.Trp782=) c.169+7477C= (n.169+7477C=) c.*124+7276C= (n.*124+7276C=) c.*2082G= (n.*2082G=) c.1829G= (p.Trp610=) c.2732G= (p.Trp911=) c.-362G= (n.-362G=) c.2552G= (p.Trp851=) | dbSNP |