| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800105G>C | CA346750993 | FBXO11,MSH6 | c.1825G>C (p.Glu609Gln) c.2122G>C (p.Glu708Gln) n.2206G>C c.1606+516G>C (n.1606+516G>C) c.2128G>C (p.Glu710Gln) c.628-3315G>C (n.628-3315G>C) c.1279G>C (p.Glu427Gln) c.1732G>C (p.Glu578Gln) c.169+8090C>G (n.169+8090C>G) c.*124+7889C>G (n.*124+7889C>G) c.*1469G>C (n.*1469G>C) c.1216G>C (p.Glu406Gln) c.2119G>C (p.Glu707Gln) c.-975G>C (n.-975G>C) c.1939G>C (p.Glu647Gln) | dbSNP |
| 2 | g.47800105G>A | CA346750994 | FBXO11,MSH6 | c.1825G>A (p.Glu609Lys) c.2122G>A (p.Glu708Lys) n.2206G>A c.1606+516G>A (n.1606+516G>A) c.2128G>A (p.Glu710Lys) c.628-3315G>A (n.628-3315G>A) c.1279G>A (p.Glu427Lys) c.1732G>A (p.Glu578Lys) c.169+8090C>T (n.169+8090C>T) c.*124+7889C>T (n.*124+7889C>T) c.*1469G>A (n.*1469G>A) c.1216G>A (p.Glu406Lys) c.2119G>A (p.Glu707Lys) c.-975G>A (n.-975G>A) c.1939G>A (p.Glu647Lys) | dbSNP |
| 2 | g.47800105G>T | CA16617667 | FBXO11,MSH6 | c.1825G>T (p.Glu609Ter) c.2122G>T (p.Glu708Ter) n.2206G>T c.1606+516G>T (n.1606+516G>T) c.2128G>T (p.Glu710Ter) c.628-3315G>T (n.628-3315G>T) c.1279G>T (p.Glu427Ter) c.1732G>T (p.Glu578Ter) c.169+8090C>A (n.169+8090C>A) c.*124+7889C>A (n.*124+7889C>A) c.*1469G>T (n.*1469G>T) c.1216G>T (p.Glu406Ter) c.2119G>T (p.Glu707Ter) c.-975G>T (n.-975G>T) c.1939G>T (p.Glu647Ter) | ClinVar dbSNP |