NM_000051.4(ATM):c.2125-68T>C
|
rs2235008
|
0.01573
|
NM_000051.4(ATM):c.2124+303A>C
|
rs4987953
|
0.01539
|
NM_000051.4(ATM):c.-30-180C>T
|
rs4987897
|
0.01399
|
NM_000051.4(ATM):c.1803-154G>A
|
rs55760417
|
0.01396
|
NM_000051.4(ATM):c.1236-193C>T
|
rs4987942
|
0.01394
|
NM_000051.4(ATM):c.5496+294T>A
|
rs4988040
|
0.01393
|
NM_000051.4(ATM):c.5178-150T>C
|
rs4988035
|
0.01391
|
NM_000051.4(ATM):c.185+246T>A
|
rs4987899
|
0.01239
|
NM_000051.4(ATM):c.5762+119G>A
|
rs4988059
|
0.01175
|
NM_000051.4(ATM):c.3402+70A>G
|
rs3218671
|
0.01120
|
NM_000051.4(ATM):c.1066-57G>A
|
rs4987935
|
0.00993
|
NM_000051.4(ATM):c.497-2686C>T
|
rs58745314
|
0.00975
|
NM_000051.4(ATM):c.3993+40G>A
|
rs3218709
|
0.00933
|
NM_000051.4(ATM):c.2839-337G>A
|
rs4987980
|
0.00926
|
NM_000051.4(ATM):c.2250+78G>A
|
rs2235010
|
0.00903
|
NM_000051.4(ATM):c.5674+102A>G
|
rs4988045
|
0.00901
|
NM_000051.4(ATM):c.5320-171C>A
|
rs138237074
|
0.00864
|
NM_000051.4(ATM):c.1066-230A>G
|
rs144307279
|
0.00836
|
NM_000051.4(ATM):c.2839-384T>A
|
rs4987979
|
0.00733
|
NM_000051.4(ATM):c.5320-285A>C
|
rs4988038
|
0.00731
|
NM_000051.4(ATM):c.901+99C>A
|
rs1800755
|
0.00711
|
NM_000051.4(ATM):c.2124+109A>G
|
rs4987952
|
0.00662
|
NM_000051.4(ATM):c.497-2423T>G
|
rs56075601
|
0.00649
|
NM_000051.4(ATM):c.1802+273G>A
|
rs139045926
|
0.00643
|
NM_000051.4(ATM):c.3994-121del
|
rs56013141
|
0.00643
|
NM_000051.4(ATM):c.332-158T>A
|
rs76066256
|
0.00605
|
NM_000051.4(ATM):c.497-2482A>G
|
rs78813088
|
0.00569
|
NM_000051.4(ATM):c.497-316A>G
|
rs147476994
|
0.00556
|
NM_000051.4(ATM):c.2838+291A>G
|
rs189872799
|
0.00520
|
NM_000051.4(ATM):c.1608-194T>C
|
rs4987944
|
0.00515
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000051.4(ATM):c.5762+27G>A
|
rs3218686
|
0.00428
|
NM_000051.4(ATM):c.2250+22A>C
|
rs3218692
|
0.00419
|
NM_000051.4(ATM):c.2250+34A>C
|
rs3218705
|
0.00419
|
NM_000051.4(ATM):c.5005+21_5005+22insGC
|
rs547799081
|
0.00378
|
NM_000051.4(ATM):c.5320-74T>C
|
rs56260201
|
0.00366
|
NM_000051.4(ATM):c.5319+150A>C
|
rs80195777
|
0.00339
|
NM_000051.4(ATM):c.5006-275G>A
|
rs4988028
|
0.00335
|
NM_000051.4(ATM):c.5497-168T>C
|
rs142080730
|
0.00329
|
NM_000051.4(ATM):c.3077+209C>G
|
rs184668394
|
0.00325
|
NM_000051.4(ATM):c.2466+87T>G
|
rs145659155
|
0.00304
|
NM_000051.4(ATM):c.5006-198C>T
|
rs4988029
|
0.00301
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000051.4(ATM):c.2125-88T>A
|
rs189045169
|
0.00098
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000051.4(ATM):c.3403-184T>C
|
rs1020943455
|
0.00064
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000051.4(ATM):c.2251-19T>C
|
rs370713089
|
0.00024
|
NM_000051.4(ATM):c.2467-31T>C
|
rs141761716
|
0.00017
|
NM_000051.4(ATM):c.3403-16_3403-15insA
|
rs569564716
|
0.00016
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.2839-18T>C
|
rs553155942
|
0.00012
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.1911A>G (p.Gln637=)
|
rs764790965
|
0.00009
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.663-43T>A
|
rs4987918
|
0.00008
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000051.4(ATM):c.3639T>C (p.His1213=)
|
rs142766756
|
0.00006
|
NM_000051.4(ATM):c.4449C>T (p.Ile1483=)
|
rs786203726
|
0.00006
|
NM_000051.4(ATM):c.5005+17C>G
|
rs200688912
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.4437-14T>C
|
rs900984301
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000051.4(ATM):c.5005+14A>T
|
rs374337879
|
0.00005
|
NM_000051.4(ATM):c.-30-17A>G
|
rs549786728
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.2124+13A>T
|
rs199648955
|
0.00004
|
NM_000051.4(ATM):c.2958T>G (p.Val986=)
|
rs745971584
|
0.00004
|
NM_000051.4(ATM):c.3012C>T (p.Ser1004=)
|
rs751260996
|
0.00004
|
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=)
|
rs780240314
|
0.00004
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
NM_000051.4(ATM):c.3777G>A (p.Leu1259=)
|
rs780192529
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
NM_000051.4(ATM):c.510G>A (p.Val170=)
|
rs375682557
|
0.00004
|
NM_000051.4(ATM):c.5496+11T>C
|
rs751491395
|
0.00004
|
NM_000051.4(ATM):c.-24A>G
|
rs890413530
|
0.00003
|
NM_000051.4(ATM):c.-30-19A>G
|
rs763900742
|
0.00003
|
NM_000051.4(ATM):c.-43T>G
|
rs982834411
|
0.00003
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
NM_000051.4(ATM):c.3402+10A>C
|
rs919002854
|
0.00003
|
NM_000051.4(ATM):c.4008C>T (p.Phe1336=)
|
rs748055132
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)
|
rs145236132
|
0.00003
|
NM_000051.4(ATM):c.1104A>G (p.Gln368=)
|
rs560691658
|
0.00002
|
NM_000051.4(ATM):c.1392G>A (p.Leu464=)
|
rs760191806
|
0.00002
|
NM_000051.4(ATM):c.1596C>T (p.Cys532=)
|
rs564050785
|
0.00002
|
NM_000051.4(ATM):c.1947A>G (p.Glu649=)
|
rs1032244771
|
0.00002
|
NM_000051.4(ATM):c.2082T>C (p.Leu694=)
|
rs369642243
|
0.00002
|
NM_000051.4(ATM):c.2921+16C>A
|
rs558376224
|
0.00002
|
NM_000051.4(ATM):c.381A>G (p.Thr127=)
|
rs762582522
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)
|
rs753570046
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.4482T>C (p.Cys1494=)
|
rs769071554
|
0.00002
|
NM_000051.4(ATM):c.4575A>T (p.Ile1525=)
|
rs781539071
|
0.00002
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
NM_000051.4(ATM):c.5006-18T>A
|
rs768321973
|
0.00002
|
NM_000051.4(ATM):c.5649C>T (p.Ser1883=)
|
rs1057522721
|
0.00002
|
NM_000051.4(ATM):c.5762+6G>A
|
rs776532221
|
0.00002
|
NM_000051.4(ATM):c.-30-15G>A
|
rs776227873
|
0.00001
|
NM_000051.4(ATM):c.-31+12G>A
|
rs962403813
|
0.00001
|
NM_000051.4(ATM):c.1065+18T>A
|
rs774940342
|
0.00001
|
NM_000051.4(ATM):c.1110C>T (p.Tyr370=)
|
rs376170600
|
0.00001
|
NM_000051.4(ATM):c.1302A>G (p.Pro434=)
|
rs1555070715
|
0.00001
|
NM_000051.4(ATM):c.1329A>C (p.Leu443=)
|
rs201460863
|
0.00001
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
NM_000051.4(ATM):c.138T>C (p.His46=)
|
rs770834907
|
0.00001
|
NM_000051.4(ATM):c.1515T>C (p.Phe505=)
|
rs1057520521
|
0.00001
|
NM_000051.4(ATM):c.1607+16A>G
|
rs1057522219
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.1662G>A (p.Thr554=)
|
rs764646531
|
0.00001
|
NM_000051.4(ATM):c.1758G>A (p.Glu586=)
|
rs1555072017
|
0.00001
|
NM_000051.4(ATM):c.1802+7T>G
|
rs1057521381
|
0.00001
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
NM_000051.4(ATM):c.186-19G>A
|
rs748791429
|
0.00001
|
NM_000051.4(ATM):c.1893A>G (p.Pro631=)
|
rs764702196
|
0.00001
|
NM_000051.4(ATM):c.1898+9T>C
|
rs1057520836
|
0.00001
|
NM_000051.4(ATM):c.1899-11C>T
|
rs730881282
|
0.00001
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
NM_000051.4(ATM):c.2175C>T (p.Val725=)
|
rs140110298
|
0.00001
|
NM_000051.4(ATM):c.2181C>T (p.Gly727=)
|
rs876658836
|
0.00001
|
NM_000051.4(ATM):c.2238C>T (p.Phe746=)
|
rs786203595
|
0.00001
|
NM_000051.4(ATM):c.2373C>T (p.Thr791=)
|
rs878853494
|
0.00001
|
NM_000051.4(ATM):c.2377-18T>C
|
rs761207086
|
0.00001
|
NM_000051.4(ATM):c.2377-19T>G
|
rs775771700
|
0.00001
|
NM_000051.4(ATM):c.2466A>G (p.Leu822=)
|
rs747108452
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.246A>G (p.Val82=)
|
rs757944864
|
0.00001
|
NM_000051.4(ATM):c.2475C>T (p.Phe825=)
|
rs776907383
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2571A>G (p.Leu857=)
|
rs1191404395
|
0.00001
|
NM_000051.4(ATM):c.2589T>C (p.Asp863=)
|
rs1057520227
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2638+3A>G
|
rs876660552
|
0.00001
|
NM_000051.4(ATM):c.2639-3T>C
|
rs1410247657
|
0.00001
|
NM_000051.4(ATM):c.2639-7T>C
|
rs912886321
|
0.00001
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
NM_000051.4(ATM):c.2838+13A>G
|
rs778502800
|
0.00001
|
NM_000051.4(ATM):c.2838+20G>A
|
rs1310769991
|
0.00001
|
NM_000051.4(ATM):c.2839-16C>T
|
rs761953913
|
0.00001
|
NM_000051.4(ATM):c.2859G>A (p.Glu953=)
|
rs569489729
|
0.00001
|
NM_000051.4(ATM):c.2921+15C>A
|
rs1057521619
|
0.00001
|
NM_000051.4(ATM):c.2934T>G (p.Ser978=)
|
rs368678134
|
0.00001
|
NM_000051.4(ATM):c.2970T>C (p.Ile990=)
|
rs2081569239
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3126A>G (p.Leu1042=)
|
rs770038542
|
0.00001
|
NM_000051.4(ATM):c.3138T>G (p.Leu1046=)
|
rs3092858
|
0.00001
|
NM_000051.4(ATM):c.3154-11T>C
|
rs748543045
|
0.00001
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
NM_000051.4(ATM):c.3303G>A (p.Lys1101=)
|
rs925487325
|
0.00001
|
NM_000051.4(ATM):c.331+7G>A
|
rs1184757004
|
0.00001
|
NM_000051.4(ATM):c.3402+5T>C
|
rs1057520229
|
0.00001
|
NM_000051.4(ATM):c.3402+9A>G
|
rs761919506
|
0.00001
|
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)
|
rs369518512
|
0.00001
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.3746+17C>T
|
rs1057520850
|
0.00001
|
NM_000051.4(ATM):c.3747-16A>G
|
rs1555093241
|
0.00001
|
NM_000051.4(ATM):c.3747-8A>G
|
rs569612113
|
0.00001
|
NM_000051.4(ATM):c.3771A>C (p.Pro1257=)
|
rs1057523320
|
0.00001
|
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp)
|
rs587781787
|
0.00001
|
NM_000051.4(ATM):c.4056T>C (p.His1352=)
|
rs587780622
|
0.00001
|
NM_000051.4(ATM):c.4071T>C (p.Ser1357=)
|
rs767516955
|
0.00001
|
NM_000051.4(ATM):c.4109+11T>C
|
rs749158400
|
0.00001
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
NM_000051.4(ATM):c.4237-13G>A
|
rs778685615
|
0.00001
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
NM_000051.4(ATM):c.42A>G (p.Gln14=)
|
rs771378101
|
0.00001
|
NM_000051.4(ATM):c.433C>T (p.Leu145=)
|
rs587782328
|
0.00001
|
NM_000051.4(ATM):c.4398A>G (p.Arg1466=)
|
rs142728382
|
0.00001
|
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)
|
rs876660356
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4437-20T>G
|
rs558432723
|
0.00001
|
NM_000051.4(ATM):c.4518G>A (p.Val1506=)
|
rs1057524110
|
0.00001
|
NM_000051.4(ATM):c.4569A>G (p.Thr1523=)
|
rs1555099963
|
0.00001
|
NM_000051.4(ATM):c.4611+19T>C
|
rs776602821
|
0.00001
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
NM_000051.4(ATM):c.4615T>C (p.Leu1539=)
|
rs976206782
|
0.00001
|
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)
|
rs759660081
|
0.00001
|
NM_000051.4(ATM):c.4777-15C>T
|
rs1057521023
|
0.00001
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)
|
rs786203559
|
0.00001
|
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)
|
rs755687834
|
0.00001
|
NM_000051.4(ATM):c.4910-16A>T
|
rs866500582
|
0.00001
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
NM_000051.4(ATM):c.493T>C (p.Leu165=)
|
rs878853514
|
0.00001
|
NM_000051.4(ATM):c.497-14T>A
|
rs757147178
|
0.00001
|
NM_000051.4(ATM):c.5157T>C (p.Asn1719=)
|
rs786203254
|
0.00001
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)
|
rs767070325
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
NM_000051.4(ATM):c.5718A>G (p.Gln1906=)
|
rs863224293
|
0.00001
|
NM_000051.4(ATM):c.702A>G (p.Ala234=)
|
rs752751588
|
0.00001
|
NM_000051.4(ATM):c.717C>T (p.Phe239=)
|
rs779410490
|
0.00001
|
NM_000051.4(ATM):c.73-15C>A
|
rs1216989217
|
0.00001
|
NM_000051.4(ATM):c.762A>G (p.Leu254=)
|
rs1313709939
|
0.00001
|
NM_000051.4(ATM):c.901+12A>G
|
rs759379354
|
0.00001
|
NM_000051.4(ATM):c.901+7A>G
|
rs1057523569
|
0.00001
|
NM_000051.4(ATM):c.97C>T (p.Leu33=)
|
rs1057522542
|
0.00001
|
NM_000051.4(ATM):c.993G>A (p.Lys331=)
|
rs786202048
|
0.00001
|
NM_000051.3(ATM):c.-30_-27delACAG
|
|
|
NM_000051.3(ATM):c.-328A>T
|
rs4987880
|
|
NM_000051.4(ATM):c.-18G>C
|
rs374303671
|
|
NM_000051.4(ATM):c.-25G>T
|
rs1422476659
|
|
NM_000051.4(ATM):c.-27G>T
|
rs1057522375
|
|
NM_000051.4(ATM):c.-31+6G>T
|
rs1555051184
|
|
NM_000051.4(ATM):c.-42C>T
|
rs1057523482
|
|
NM_000051.4(ATM):c.-47A>G
|
rs1057523231
|
|
NM_000051.4(ATM):c.1005A>G (p.Gly335=)
|
rs1555068481
|
|
NM_000051.4(ATM):c.1020C>A (p.Ala340=)
|
rs546927781
|
|
NM_000051.4(ATM):c.1020C>T (p.Ala340=)
|
rs546927781
|
|
NM_000051.4(ATM):c.1044G>A (p.Leu348=)
|
rs879254039
|
|
NM_000051.4(ATM):c.1071T>C (p.Phe357=)
|
rs1057521608
|
|
NM_000051.4(ATM):c.1185A>G (p.Val395=)
|
rs1555069760
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
|
NM_000051.4(ATM):c.1236-3T>C
|
rs763976313
|
|
NM_000051.4(ATM):c.1257A>G (p.Leu419=)
|
rs779037197
|
|
NM_000051.4(ATM):c.1266G>A (p.Lys422=)
|
rs1057520445
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
NM_000051.4(ATM):c.1327C>T (p.Leu443=)
|
rs1057524185
|
|
NM_000051.4(ATM):c.1356A>G (p.Thr452=)
|
rs1555070803
|
|
NM_000051.4(ATM):c.135G>A (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.1380G>A (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1431G>A (p.Lys477=)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1542T>C (p.Gly514=)
|
rs572567674
|
|
NM_000051.4(ATM):c.1607+13T>C
|
rs1057522249
|
|
NM_000051.4(ATM):c.1608-12G>C
|
rs749269085
|
|
NM_000051.4(ATM):c.1608-8del
|
rs1064794419
|
|
NM_000051.4(ATM):c.1617A>G (p.Val539=)
|
rs1060504300
|
|
NM_000051.4(ATM):c.1701T>C (p.Asn567=)
|
rs878853487
|
|
NM_000051.4(ATM):c.1776C>T (p.Ser592=)
|
rs1057524304
|
|
NM_000051.4(ATM):c.1779A>G (p.Thr593=)
|
rs876660493
|
|
NM_000051.4(ATM):c.1802+16T>C
|
rs995327985
|
|
NM_000051.4(ATM):c.1802+16del
|
rs1064794466
|
|
NM_000051.4(ATM):c.185+10T>G
|
rs1555054317
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.1899-348_1899-344del
|
rs200029320
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
NM_000051.4(ATM):c.1926A>G (p.Glu642=)
|
rs786201469
|
|
NM_000051.4(ATM):c.1938A>G (p.Ser646=)
|
rs1376318521
|
|
NM_000051.4(ATM):c.1951C>T (p.Leu651=)
|
rs1057521751
|
|
NM_000051.4(ATM):c.1989A>G (p.Leu663=)
|
rs786202748
|
|
NM_000051.4(ATM):c.201T>C (p.Tyr67=)
|
rs1555055083
|
|
NM_000051.4(ATM):c.2028C>T (p.Ser676=)
|
rs375196053
|
|
NM_000051.4(ATM):c.2043T>A (p.Ser681=)
|
rs746422877
|
|
NM_000051.4(ATM):c.2064A>G (p.Glu688=)
|
rs772739433
|
|
NM_000051.4(ATM):c.2067A>G (p.Ser689=)
|
rs1555073434
|
|
NM_000051.4(ATM):c.2068C>T (p.Leu690=)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2124+19dup
|
rs35211268
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
NM_000051.4(ATM):c.2125-16T>C
|
rs1057523016
|
|
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2250+15A>G
|
rs1057523706
|
|
NM_000051.4(ATM):c.2250+329C>A
|
rs181049353
|
|
NM_000051.4(ATM):c.2251-115dup
|
rs4987959
|
|
NM_000051.4(ATM):c.2251-18del
|
rs730881284
|
|
NM_000051.4(ATM):c.2254C>T (p.Leu752=)
|
rs756522395
|
|
NM_000051.4(ATM):c.225G>A (p.Leu75=)
|
rs1060504306
|
|
NM_000051.4(ATM):c.2268A>G (p.Ala756=)
|
rs1057522845
|
|
NM_000051.4(ATM):c.2284C>T (p.Leu762=)
|
rs876659401
|
|
NM_000051.4(ATM):c.2346A>C (p.Leu782=)
|
rs730881285
|
|
NM_000051.4(ATM):c.2376+16del
|
rs779169817
|
|
NM_000051.4(ATM):c.2376+17C>T
|
rs1555075846
|
|
NM_000051.4(ATM):c.2376+9TTC[2]
|
rs757318914
|
|
NM_000051.4(ATM):c.2377-15_2377-12del
|
rs730881298
|
|
NM_000051.4(ATM):c.2394T>C (p.Ile798=)
|
rs876659882
|
|
NM_000051.4(ATM):c.2403C>A (p.Gly801=)
|
rs1264455310
|
|
NM_000051.4(ATM):c.2406T>C (p.Phe802=)
|
rs1472760933
|
|
NM_000051.4(ATM):c.2442C>T (p.Asp814=)
|
rs3218695
|
|
NM_000051.4(ATM):c.2467-277C>G
|
rs4987967
|
|
NM_000051.4(ATM):c.2467-4G>T
|
rs1555082048
|
|
NM_000051.4(ATM):c.2467-8C>T
|
rs1425701157
|
|
NM_000051.4(ATM):c.2505A>G (p.Val835=)
|
rs1057523506
|
|
NM_000051.4(ATM):c.2529T>C (p.Asn843=)
|
rs876660189
|
|
NM_000051.4(ATM):c.2638+11A>G
|
rs1057521911
|
|
NM_000051.4(ATM):c.2638+155del
|
rs539495734
|
|
NM_000051.4(ATM):c.2638+18A>G
|
rs1057521739
|
|
NM_000051.4(ATM):c.2639-27_2639-22del
|
rs4987971
|
|
NM_000051.4(ATM):c.2639-87del
|
rs4987970
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.2739C>A (p.Thr913=)
|
rs1555083293
|
|
NM_000051.4(ATM):c.2742T>C (p.Asn914=)
|
rs1057520522
|
|
NM_000051.4(ATM):c.276A>G (p.Lys92=)
|
rs786201137
|
|
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2823C>A (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2826C>T (p.Leu942=)
|
rs1025892576
|
|
NM_000051.4(ATM):c.2838+10G>A
|
rs1555083482
|
|
NM_000051.4(ATM):c.2838+9C>A
|
rs370160823
|
|
NM_000051.4(ATM):c.2839-351del
|
rs199782940
|
|
NM_000051.4(ATM):c.2839-418TG[8]
|
rs546616992
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.2839-7A>G
|
rs1445472389
|
|
NM_000051.4(ATM):c.2844A>G (p.Leu948=)
|
rs1555084628
|
|
NM_000051.4(ATM):c.2865T>C (p.Pro955=)
|
rs1555084654
|
|
NM_000051.4(ATM):c.2913A>G (p.Lys971=)
|
rs1057522291
|
|
NM_000051.4(ATM):c.2917C>T (p.Leu973=)
|
rs535646511
|
|
NM_000051.4(ATM):c.2922-14T>C
|
rs761100734
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2922C>T (p.Ser974=)
|
rs758045139
|
|
NM_000051.4(ATM):c.2994G>A (p.Val998=)
|
rs1555085118
|
|
NM_000051.4(ATM):c.3077+13T>A
|
rs1057524204
|
|
NM_000051.4(ATM):c.3077+15T>C
|
rs1555085277
|
|
NM_000051.4(ATM):c.3078-12A>T
|
rs1555085749
|
|
NM_000051.4(ATM):c.3153+18T>G
|
rs1555085921
|
|
NM_000051.4(ATM):c.3153+20T>A
|
rs200786429
|
|
NM_000051.4(ATM):c.3153+20dup
|
rs760492979
|
|
NM_000051.4(ATM):c.3154-20C>T
|
rs1057522141
|
|
NM_000051.4(ATM):c.3154-4G>T
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-7C>T
|
rs756615573
|
|
NM_000051.4(ATM):c.315C>T (p.Ile105=)
|
rs1057522344
|
|
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)
|
rs1057522201
|
|
NM_000051.4(ATM):c.3270A>G (p.Ala1090=)
|
rs997005308
|
|
NM_000051.4(ATM):c.3273G>A (p.Glu1091=)
|
rs762860946
|
|
NM_000051.4(ATM):c.3284+9T>C
|
rs1555086278
|
|
NM_000051.4(ATM):c.3285-12G>A
|
rs1057521452
|
|
NM_000051.4(ATM):c.3285-16G>T
|
rs1057524332
|
|
NM_000051.4(ATM):c.3285-31TTTG[3]
|
rs750490644
|
|
NM_000051.4(ATM):c.3285-31TTTG[5]
|
rs750490644
|
|
NM_000051.4(ATM):c.331+69del
|
rs11390378
|
|
NM_000051.4(ATM):c.332-159del
|
rs535426066
|
|
NM_000051.4(ATM):c.332-5A>T
|
rs1057522447
|
|
NM_000051.4(ATM):c.332-7G>T
|
rs1591474291
|
|
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)
|
rs762269034
|
|
NM_000051.4(ATM):c.33C>T (p.Cys11=)
|
rs1555053901
|
|
NM_000051.4(ATM):c.3402+18G>A
|
rs752000273
|
|
NM_000051.4(ATM):c.3402+32_3402+34del
|
rs545376366
|
|
NM_000051.4(ATM):c.3403-14_3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)
|
rs879254069
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
NM_000051.4(ATM):c.3456T>G (p.Ser1152=)
|
rs2135666779
|
|
NM_000051.4(ATM):c.3463C>T (p.Leu1155=)
|
rs1555091217
|
|
NM_000051.4(ATM):c.3471G>A (p.Leu1157=)
|
rs878853504
|
|
NM_000051.4(ATM):c.3480G>T (p.Val1160=)
|
rs1001303564
|
|
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)
|
rs1555091273
|
|
NM_000051.4(ATM):c.3576+10G>A
|
rs1057523063
|
|
NM_000051.4(ATM):c.3577-157A>C
|
rs190528933
|
|
NM_000051.4(ATM):c.3577-15T>C
|
rs1057521733
|
|
NM_000051.4(ATM):c.3577-242_3577-233del
|
rs138417879
|
|
NM_000051.4(ATM):c.3577-8T>C
|
rs1555092222
|
|
NM_000051.4(ATM):c.3594T>C (p.Ser1198=)
|
rs1555092263
|
|
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)
|
rs786201151
|
|
NM_000051.4(ATM):c.3746+17C>G
|
rs1057520850
|
|
NM_000051.4(ATM):c.3746+4A>C
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746+4A>G
|
rs1555092593
|
|
NM_000051.4(ATM):c.3747-173T>C
|
rs373028945
|
|
NM_000051.4(ATM):c.3747-304G>T
|
rs4987991
|
|
NM_000051.4(ATM):c.3747-7T>C
|
rs1057523136
|
|
NM_000051.4(ATM):c.3771A>G (p.Pro1257=)
|
rs1057523320
|
|
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)
|
rs1057522326
|
|
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)
|
rs587781787
|
|
NM_000051.4(ATM):c.3888T>C (p.Pro1296=)
|
rs1555093582
|
|
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.3942T>C (p.Thr1314=)
|
rs558360643
|
|
NM_000051.4(ATM):c.3993+12A>G
|
rs1057520703
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.3994-12G>A
|
rs1057520398
|
|
NM_000051.4(ATM):c.3994-12G>T
|
rs1057520398
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
NM_000051.4(ATM):c.4062A>C (p.Pro1354=)
|
rs1555095974
|
|
NM_000051.4(ATM):c.408T>A (p.Ile136=)
|
rs2135123307
|
|
NM_000051.4(ATM):c.4109+15A>C
|
rs1057523527
|
|
NM_000051.4(ATM):c.4110-18T>C
|
rs1057523967
|
|
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4236+15_4236+17del
|
rs1064794349
|
|
NM_000051.4(ATM):c.4237-19A>C
|
rs753311330
|
|
NM_000051.4(ATM):c.4237-9_4237-7del
|
rs1555097355
|
|
NM_000051.4(ATM):c.4332G>C (p.Leu1444=)
|
rs753570046
|
|
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=)
|
rs1057521912
|
|
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)
|
rs201526888
|
|
NM_000051.4(ATM):c.4436+12A>G
|
rs1057521715
|
|
NM_000051.4(ATM):c.4436+163_4436+165dup
|
rs201061190
|
|
NM_000051.4(ATM):c.4436+20C>G
|
rs1057523454
|
|
NM_000051.4(ATM):c.4436+7A>G
|
rs749971237
|
|
NM_000051.4(ATM):c.4437-14del
|
rs730881290
|
|
NM_000051.4(ATM):c.4437-3T>C
|
rs1555099722
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
NM_000051.4(ATM):c.4560T>C (p.Ile1520=)
|
rs1057520925
|
|
NM_000051.4(ATM):c.4584G>T (p.Val1528=)
|
rs1555100000
|
|
NM_000051.4(ATM):c.4611+12A>G
|
rs1057520230
|
|
NM_000051.4(ATM):c.4611+18C>T
|
rs1057522843
|
|
NM_000051.4(ATM):c.4611+8T>C
|
rs1057522426
|
|
NM_000051.4(ATM):c.4612-122G>A
|
rs4988009
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)
|
rs766438805
|
|
NM_000051.4(ATM):c.4704T>C (p.His1568=)
|
rs1057522200
|
|
NM_000051.4(ATM):c.4713T>C (p.Phe1571=)
|
rs750027746
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)
|
rs1555100593
|
|
NM_000051.4(ATM):c.4761C>G (p.Pro1587=)
|
rs769562370
|
|
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)
|
rs749475519
|
|
NM_000051.4(ATM):c.4776+17C>G
|
rs767641642
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)
|
rs964364958
|
|
NM_000051.4(ATM):c.4818T>C (p.Leu1606=)
|
rs772074468
|
|
NM_000051.4(ATM):c.482A>C (p.Gln161Pro)
|
rs587780625
|
|
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4840C>T (p.Leu1614=)
|
rs777239020
|
|
NM_000051.4(ATM):c.4842A>G (p.Leu1614=)
|
rs1057520429
|
|
NM_000051.4(ATM):c.4860A>G (p.Gln1620=)
|
rs1057520446
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4910-7T>A
|
rs3092872
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.496+14G>C
|
rs776887214
|
|
NM_000051.4(ATM):c.496+18T>C
|
rs762171014
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
NM_000051.4(ATM):c.497-2421_497-2418del
|
rs370425572
|
|
NM_000051.4(ATM):c.5005+15T>C
|
rs377355762
|
|
NM_000051.4(ATM):c.5006-8A>G
|
rs1057520447
|
|
NM_000051.4(ATM):c.5006-8A>T
|
rs1057520447
|
|
NM_000051.4(ATM):c.5061T>A (p.Ala1687=)
|
rs1555104600
|
|
NM_000051.4(ATM):c.5082A>G (p.Ala1694=)
|
rs778014234
|
|
NM_000051.4(ATM):c.5091C>T (p.Thr1697=)
|
rs1555104680
|
|
NM_000051.4(ATM):c.5127G>A (p.Gln1709=)
|
rs1057521839
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.5151C>T (p.Tyr1717=)
|
rs1057523468
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-18T>C
|
rs1057522381
|
|
NM_000051.4(ATM):c.5178-5T>C
|
rs1555105570
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)
|
rs786201703
|
|
NM_000051.4(ATM):c.5320-14C>T
|
rs182663175
|
|
NM_000051.4(ATM):c.537A>T (p.Ser179=)
|
rs1555066338
|
|
NM_000051.4(ATM):c.5430T>G (p.Thr1810=)
|
rs1057522229
|
|
NM_000051.4(ATM):c.5496+11T>G
|
rs751491395
|
|
NM_000051.4(ATM):c.5497-9A>G
|
rs878853524
|
|
NM_000051.4(ATM):c.5559T>C (p.Asp1853=)
|
rs1555107393
|
|
NM_000051.4(ATM):c.5571A>G (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)
|
rs786203902
|
|
NM_000051.4(ATM):c.5640G>T (p.Thr1880=)
|
rs757103582
|
|
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)
|
rs864622127
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.615A>G (p.Leu205=)
|
rs1555066455
|
|
NM_000051.4(ATM):c.662+13_662+14del
|
rs1064795370
|
|
NM_000051.4(ATM):c.662+8_662+12del
|
rs864622475
|
|
NM_000051.4(ATM):c.663-269C>G
|
rs149955262
|
|
NM_000051.4(ATM):c.72+20C>G
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+5_72+6delinsCTT
|
rs1555053982
|
|
NM_000051.4(ATM):c.72+6A>G
|
rs1057520800
|
|
NM_000051.4(ATM):c.73-14C>A
|
rs766284348
|
|
NM_000051.4(ATM):c.73-19A>G
|
rs1555054028
|
|
NM_000051.4(ATM):c.741T>C (p.Phe247=)
|
rs876659081
|
|
NM_000051.4(ATM):c.843A>G (p.Glu281=)
|
rs1057523419
|
|
NM_000051.4(ATM):c.901+14del
|
rs1064795038
|
|
NM_000051.4(ATM):c.902-10T>C
|
rs2135264378
|
|
NM_000051.4(ATM):c.909T>C (p.Tyr303=)
|
rs1555068288
|
|
NM_000051.4(ATM):c.936A>G (p.Leu312=)
|
rs587782257
|
|
NM_000051.4(ATM):c.975T>C (p.His325=)
|
rs746825207
|
|
NM_000051.4(ATM):c.990A>G (p.Gly330=)
|
rs1555068447
|
|