NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1375+2T>A
|
rs1483241325
|
0.00001
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.684-7_694del
|
rs1555921323
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.792+5G>C
|
rs876658514
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NC_000022.10:g.(?_29091105)_(29108015_?)dup
|
|
|
NC_000022.10:g.(?_29095816)_(29095935_?)dup
|
|
|
NC_000022.10:g.(?_29095816)_(29099564_?)del
|
|
|
NC_000022.10:g.(?_29099483)_(29099564_?)dup
|
|
|
NC_000022.10:g.(?_29099483)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29099493)_(29099554_?)dup
|
|
|
NC_000022.10:g.(?_29105984)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29105988)_(29106053_?)del
|
|
|
NC_000022.10:g.(?_29105988)_(29108011_?)dup
|
|
|
NC_000022.10:g.(?_29120157)_(29121086_?)del
|
|
|
NC_000022.10:g.(?_29120955)_(29121365_?)dup
|
|
|
NC_000022.11:g.(?_28687743)_(28687986_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28687996_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28689221_?)del
|
|
|
NC_000022.11:g.(?_28689125)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28689129)_(28696993_?)del
|
|
|
NC_000022.11:g.(?_28699838)_(28703566_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28710069_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)dup
|
|
|
NC_000022.11:g.(?_28709996)_(28725377_?)dup
|
|
|
NC_000022.11:g.(?_28719385)_(28725377_?)dup
|
|
|
NM_007194.3(CHEK2):c.320-?_592+?dup273
|
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>C
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>T
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1009-1G>A
|
rs1555914382
|
|
NM_007194.4(CHEK2):c.1009-2A>C
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>T
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2_1011del
|
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+1G>C
|
|
|
NM_007194.4(CHEK2):c.1095+1G>T
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+2T>A
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+2T>C
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+2T>G
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>T
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
|
|
|
NM_007194.4(CHEK2):c.1096-2A>C
|
|
|
NM_007194.4(CHEK2):c.1096-2A>G
|
rs2145807398
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>T
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+2T>C
|
rs1555913631
|
|
NM_007194.4(CHEK2):c.1259+2del
|
rs1555913632
|
|
NM_007194.4(CHEK2):c.1260-24_1263del
|
rs1601720308
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>C
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>T
|
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
NM_007194.4(CHEK2):c.1375+2T>C
|
rs1483241325
|
|
NM_007194.4(CHEK2):c.1375+2T>G
|
|
|
NM_007194.4(CHEK2):c.1376-1G>A
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>C
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1461+2del
|
rs1601715755
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1462-2del
|
|
|
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
|
|
|
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs)
|
rs2145748708
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs)
|
rs2145748685
|
|
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
|
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs)
|
rs2052240942
|
|
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer)
|
rs2145748275
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
NM_007194.4(CHEK2):c.1540del (p.Gln514fs)
|
rs2145748046
|
|
NM_007194.4(CHEK2):c.1543-1G>A
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-1G>C
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-2A>C
|
rs1160973224
|
|
NM_007194.4(CHEK2):c.1543-2A>G
|
|
|
NM_007194.4(CHEK2):c.1544del (p.Pro515fs)
|
rs1555911640
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.319+1G>C
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+2T>C
|
|
|
NM_007194.4(CHEK2):c.319+2T>G
|
rs587782401
|
|
NM_007194.4(CHEK2):c.320-1G>C
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-2A>G
|
rs1336652138
|
|
NM_007194.4(CHEK2):c.320-2del
|
|
|
NM_007194.4(CHEK2):c.444_444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-2A>G
|
rs1569158075
|
|
NM_007194.4(CHEK2):c.445-2A>T
|
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
NM_007194.4(CHEK2):c.469_592+808del
|
rs2053903140
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.592+1G>A
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-2A>C
|
|
|
NM_007194.4(CHEK2):c.593-2A>G
|
rs2146007633
|
|
NM_007194.4(CHEK2):c.593-2A>T
|
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>A
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>G
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1G>C
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1del
|
rs2145953393
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-2A>T
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-3_684-2del
|
|
|
NM_007194.4(CHEK2):c.684-5_684-2delinsC
|
rs2053419709
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.792+2T>A
|
rs545982789
|
|
NM_007194.4(CHEK2):c.792+2T>G
|
rs545982789
|
|
NM_007194.4(CHEK2):c.792+2_792+17del
|
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+2T>A
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+2T>C
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+2T>G
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.847-2A>T
|
|
|
NM_007194.4(CHEK2):c.847-2_857del
|
rs2145878627
|
|
NM_007194.4(CHEK2):c.891_908+3del
|
rs2145876703
|
|
NM_007194.4(CHEK2):c.903_908+26del
|
rs2145876249
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>C
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>T
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|