NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.497-1G>A
|
rs778624615
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NC_000011.10:g.(?_108235664)_(108235840_?)del
|
|
|
NC_000011.10:g.(?_108243943)_(108249112_?)del
|
|
|
NC_000011.10:g.(?_108246954)_(108289811_?)dup
|
|
|
NC_000011.10:g.(?_108284217)_(108284483_?)dup
|
|
|
NC_000011.10:g.(?_108292619)_(108299885_?)del
|
|
|
NC_000011.10:g.(?_108294917)_(108295069_?)dup
|
|
|
NC_000011.10:g.(?_108299704)_(108304862_?)del
|
|
|
NC_000011.9:g.(?_108099886)_(108143599_?)del
|
|
|
NC_000011.9:g.(?_108106377)_(108143599_?)dup
|
|
|
NC_000011.9:g.(?_108106387)_(108106571_?)del
|
|
|
NC_000011.9:g.(?_108106387)_(108119839_?)dup
|
|
|
NC_000011.9:g.(?_108114117)_(108115618_?)del
|
|
|
NC_000011.9:g.(?_108115586)_(108118919_?)del
|
|
|
NC_000011.9:g.(?_108117671)_(108160548_?)dup
|
|
|
NC_000011.9:g.(?_108124463)_(108126942_?)del
|
|
|
NC_000011.9:g.(?_108150208)_(108225611_?)dup
|
|
|
NC_000011.9:g.(?_108150557)_(108153493_?)del
|
|
|
NC_000011.9:g.(?_108151710)_(108192157_?)dup
|
|
|
NC_000011.9:g.(?_108163336)_(108170622_?)del
|
|
|
NC_000011.9:g.(?_108163340)_(108170618_?)del
|
|
|
NC_000011.9:g.(?_108178614)_(108183235_?)dup
|
|
|
NC_000011.9:g.(?_108183089)_(108225611_?)dup
|
|
|
NC_000011.9:g.(?_108196027)_(108199975_?)del
|
|
|
NC_000011.9:g.(?_108206566)_(108206694_?)del
|
|
|
NC_000011.9:g.(?_108213939)_(108225611_?)del
|
|
|
NC_000011.9:g.(?_108217996)_(108218102_?)del
|
|
|
NM_000051.4(ATM):c.1065+1G>A
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+2T>C
|
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-1_1081del
|
rs2135289838
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
NM_000051.4(ATM):c.1092_1235+363del
|
rs1591517314
|
|
NM_000051.4(ATM):c.1092_1235+363delinsCTT
|
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
NM_000051.4(ATM):c.1235+1G>C
|
|
|
NM_000051.4(ATM):c.1235+2T>C
|
rs2135296157
|
|
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser)
|
rs587779813
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1608-1G>C
|
rs1565385010
|
|
NM_000051.4(ATM):c.1608-2A>C
|
rs2135338498
|
|
NM_000051.4(ATM):c.1668_2466+1284del
|
|
|
NM_000051.4(ATM):c.1783_1802+91del
|
rs1555072063
|
|
NM_000051.4(ATM):c.1799_1802+5del
|
rs781244480
|
|
NM_000051.4(ATM):c.1802+1G>T
|
rs2135344665
|
|
NM_000051.4(ATM):c.1803-1G>A
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
NM_000051.4(ATM):c.186-2A>G
|
rs2078881350
|
|
NM_000051.4(ATM):c.1899-1_1902del
|
|
|
NM_000051.4(ATM):c.1899-3_1899-2delinsTG
|
|
|
NM_000051.4(ATM):c.1899-8_1904del
|
rs2080290215
|
|
NM_000051.4(ATM):c.2074_2124+280del
|
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1del
|
rs2080318979
|
|
NM_000051.4(ATM):c.2125-15_2128del
|
rs1064792940
|
|
NM_000051.4(ATM):c.2125-1G>A
|
rs1402299151
|
|
NM_000051.4(ATM):c.2125-2A>C
|
rs1565394403
|
|
NM_000051.4(ATM):c.2125-2_2128del
|
rs2135391894
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2376+1G>A
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+1G>T
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+2T>C
|
rs2135408476
|
|
NM_000051.4(ATM):c.2376+2T>G
|
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377-2A>T
|
rs1057516553
|
|
NM_000051.4(ATM):c.2466+2T>A
|
rs878853495
|
|
NM_000051.4(ATM):c.2466+2T>C
|
|
|
NM_000051.4(ATM):c.2466+2T>G
|
rs878853495
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
NM_000051.4(ATM):c.2467-2A>T
|
rs1555082050
|
|
NM_000051.4(ATM):c.2639-2A>G
|
rs1591593566
|
|
NM_000051.4(ATM):c.2838+1G>A
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3153+1G>A
|
rs2081646501
|
|
NM_000051.4(ATM):c.3153+1G>T
|
rs2081646501
|
|
NM_000051.4(ATM):c.3153+2T>C
|
rs2135566959
|
|
NM_000051.4(ATM):c.3154-1_3154delinsTT
|
rs2081657007
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
NM_000051.4(ATM):c.332-3_347del
|
|
|
NM_000051.4(ATM):c.3402+1G>A
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+1G>T
|
rs1565439606
|
|
NM_000051.4(ATM):c.3403-1G>A
|
rs1555091120
|
|
NM_000051.4(ATM):c.3403-1G>T
|
|
|
NM_000051.4(ATM):c.3571_3576+1del
|
rs2135670424
|
|
NM_000051.4(ATM):c.3576+1G>A
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+1G>T
|
rs876660621
|
|
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
|
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3746+452_4363del
|
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
NM_000051.4(ATM):c.3747-3_3751del
|
rs1555093256
|
|
NM_000051.4(ATM):c.4109+1G>A
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4236+1G>A
|
|
|
NM_000051.4(ATM):c.4236+1G>C
|
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4236+1_4236+2del
|
rs2135753954
|
|
NM_000051.4(ATM):c.4236+1del
|
rs2135753984
|
|
NM_000051.4(ATM):c.4236+2T>A
|
rs1229926683
|
|
NM_000051.4(ATM):c.4237-2A>G
|
rs1591662492
|
|
NM_000051.4(ATM):c.4426_4436+14del
|
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
NM_000051.4(ATM):c.4611+1G>A
|
rs1565461840
|
|
NM_000051.4(ATM):c.4611+1G>T
|
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
NM_000051.4(ATM):c.4611_4611+9del
|
rs780969040
|
|
NM_000051.4(ATM):c.4612-1G>A
|
rs1555100351
|
|
NM_000051.4(ATM):c.4777-1G>A
|
rs1591684268
|
|
NM_000051.4(ATM):c.4910-1G>T
|
rs1060501706
|
|
NM_000051.4(ATM):c.4910-2A>C
|
rs1555103156
|
|
NM_000051.4(ATM):c.4910-2A>G
|
rs1555103156
|
|
NM_000051.4(ATM):c.4910-2A>T
|
rs1555103156
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.496+1G>A
|
rs876658500
|
|
NM_000051.4(ATM):c.496+1G>C
|
rs876658500
|
|
NM_000051.4(ATM):c.496+2T>G
|
rs2079249834
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.497-1G>C
|
rs778624615
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.497-2A>G
|
|
|
NM_000051.4(ATM):c.5005+1G>A
|
rs1057517427
|
|
NM_000051.4(ATM):c.5006-1G>A
|
rs1591701799
|
|
NM_000051.4(ATM):c.5006-2A>G
|
rs2135887733
|
|
NM_000051.4(ATM):c.5177+1G>C
|
rs1131691159
|
|
NM_000051.4(ATM):c.5177+1del
|
rs2083338520
|
|
NM_000051.4(ATM):c.5177+2T>A
|
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5178-9_5202del
|
rs2135911351
|
|
NM_000051.4(ATM):c.5319+1G>A
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1del
|
rs2135916021
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5319+2T>G
|
rs1555105842
|
|
NM_000051.4(ATM):c.5320-1G>C
|
rs2135926774
|
|
NM_000051.4(ATM):c.5320-2A>C
|
rs1400417135
|
|
NM_000051.4(ATM):c.5496+1G>A
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+2T>A
|
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.5675-1G>C
|
rs2135975662
|
|
NM_000051.4(ATM):c.5675-24_5699del
|
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
NM_000051.4(ATM):c.662+2T>C
|
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.663-2A>T
|
|
|
NM_000051.4(ATM):c.663-2del
|
|
|
NM_000051.4(ATM):c.72+2del
|
rs1555053972
|
|
NM_000051.4(ATM):c.901+1_901+26del
|
rs1380265721
|
|
NM_000051.4(ATM):c.901+3A>T
|
rs786203070
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|