| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.132659329_132659339dup | CA2072994575 | POLE | c.853_863dup (p.Arg289ThrfsTer?) c.3086_3096dup c.3232_3242dup (p.Arg1082ThrfsTer28) c.*2734_*2744dup (n.*2734_*2744dup) c.3151_3161dup (p.Arg1055ThrfsTer28) n.1576_1586dup c.*2279_*2289dup (n.*2279_*2289dup) c.3103_3113dup (p.Arg1039ThrfsTer28) c.2311_2321dup (p.Arg775ThrfsTer28) c.1894_1904dup (p.Arg636ThrfsTer28) c.220_230dup (p.Arg78ThrfsTer28) n.3441_3451dup n.3436_3446dup | dbSNP |
| 12 | g.132659329_132659339del | CA6893330 | POLE | c.853_863del (p.Tyr285ProfsTer19) c.3086_3096del c.3232_3242del (p.Tyr1078ProfsTer?) c.*2734_*2744del (n.*2734_*2744del) c.3151_3161del (p.Tyr1051ProfsTer?) n.1576_1586del c.*2279_*2289del (n.*2279_*2289del) c.3103_3113del (p.Tyr1035ProfsTer?) c.2311_2321del (p.Tyr771ProfsTer?) c.1894_1904del (p.Tyr632ProfsTer?) c.220_230del (p.Tyr74ProfsTer?) n.3441_3451del n.3436_3446del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |