| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800028_47800029del | CA009593 | FBXO11,MSH6 | c.1748_1749del (p.Ser583CysfsTer15) c.2045_2046del (p.Ser682CysfsTer15) n.2129_2130del c.1606+439_1606+440del (n.1606+439_1606+440del) c.2051_2052del (p.Ser684CysfsTer15) c.628-3392_628-3391del (n.628-3392_628-3391del) c.1202_1203del (p.Ser401CysfsTer15) c.1655_1656del (p.Ser552CysfsTer15) c.169+8170_169+8171del (n.169+8170_169+8171del) c.*124+7969_*124+7970del (n.*124+7969_*124+7970del) c.*1392_*1393del (n.*1392_*1393del) c.1139_1140del (p.Ser380CysfsTer15) c.2042_2043del (p.Ser681CysfsTer15) c.-1052_-1051del (n.-1052_-1051del) c.1862_1863del (p.Ser621CysfsTer15) | ClinVar dbSNP |
| 2 | g.47800028_47800029dup | CA1139770409 | FBXO11,MSH6 | c.1748_1749dup (p.Ala584LeufsTer3) c.2045_2046dup (p.Ala683LeufsTer3) n.2129_2130dup c.1606+439_1606+440dup (n.1606+439_1606+440dup) c.2051_2052dup (p.Ala685LeufsTer3) c.628-3392_628-3391dup (n.628-3392_628-3391dup) c.1202_1203dup (p.Ala402LeufsTer3) c.1655_1656dup (p.Ala553LeufsTer3) c.169+8170_169+8171dup (n.169+8170_169+8171dup) c.*124+7969_*124+7970dup (n.*124+7969_*124+7970dup) c.*1392_*1393dup (n.*1392_*1393dup) c.1139_1140dup (p.Ala381LeufsTer3) c.2042_2043dup (p.Ala682LeufsTer3) c.-1052_-1051dup (n.-1052_-1051dup) c.1862_1863dup (p.Ala622LeufsTer3) | ClinVar dbSNP |