| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800972A>T | CA16617688 | FBXO11,MSH6 | c.2692A>T (p.Lys898Ter) c.2989A>T (p.Lys997Ter) n.3073A>T c.1606+1383A>T (n.1606+1383A>T) c.2995A>T (p.Lys999Ter) c.628-2448A>T (n.628-2448A>T) c.2146A>T (p.Lys716Ter) c.2599A>T (p.Lys867Ter) c.169+7223T>A (n.169+7223T>A) c.*124+7022T>A (n.*124+7022T>A) c.*2336A>T (n.*2336A>T) c.2083A>T (p.Lys695Ter) c.2986A>T (p.Lys996Ter) c.-108A>T (n.-108A>T) c.2806A>T (p.Lys936Ter) | ClinVar dbSNP |
| 2 | g.47800972A>G | CA346756377 | FBXO11,MSH6 | c.2692A>G (p.Lys898Glu) c.2989A>G (p.Lys997Glu) n.3073A>G c.1606+1383A>G (n.1606+1383A>G) c.2995A>G (p.Lys999Glu) c.628-2448A>G (n.628-2448A>G) c.2146A>G (p.Lys716Glu) c.2599A>G (p.Lys867Glu) c.169+7223T>C (n.169+7223T>C) c.*124+7022T>C (n.*124+7022T>C) c.*2336A>G (n.*2336A>G) c.2083A>G (p.Lys695Glu) c.2986A>G (p.Lys996Glu) c.-108A>G (n.-108A>G) c.2806A>G (p.Lys936Glu) | ClinVar dbSNP |