NM_000051.4(ATM):c.2250+221T>C
|
rs626434
|
0.99342
|
NM_000051.4(ATM):c.2467-123T>A
|
rs642496
|
0.66834
|
NM_000051.4(ATM):c.496+221C>T
|
rs623860
|
0.65254
|
NM_000051.4(ATM):c.3078-77C>T
|
rs664677
|
0.65111
|
NM_000051.4(ATM):c.1066-294A>G
|
rs694799
|
0.54303
|
NM_000051.4(ATM):c.3993+197G>A
|
rs654005
|
0.53271
|
NM_000051.4(ATM):c.2839-882C>T
|
rs637064
|
0.52086
|
NM_000051.4(ATM):c.3994-193T>C
|
rs609261
|
0.52017
|
NM_000051.4(ATM):c.4611+213A>G
|
rs600329
|
0.51800
|
NM_000051.4(ATM):c.3402+329A>T
|
rs11212579
|
0.51788
|
NM_000051.4(ATM):c.4777-247C>G
|
rs582297
|
0.51607
|
NM_000051.4(ATM):c.4777-248G>A
|
rs680113
|
0.51603
|
NM_000051.4(ATM):c.5006-170G>A
|
rs1150203
|
0.49646
|
NM_000051.4(ATM):c.1899-242G>A
|
rs172927
|
0.49506
|
NM_000051.4(ATM):c.2377-56A>G
|
rs672655
|
0.48759
|
NM_000051.4(ATM):c.2839-90G>T
|
rs651030
|
0.35293
|
NM_000051.4(ATM):c.72+37_72+38del
|
rs2066734
|
0.35257
|
NM_000051.4(ATM):c.2839-657G>A
|
rs228593
|
0.26770
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_000051.4(ATM):c.497-174A>G
|
rs75305266
|
0.06704
|
NM_000051.4(ATM):c.901+25T>G
|
rs1800735
|
0.06260
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
NM_000051.4(ATM):c.4777-20A>G
|
rs3218678
|
0.06221
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
NM_000051.4(ATM):c.1899-55T>G
|
rs4987951
|
0.03178
|
NM_000051.4(ATM):c.-30-79A>G
|
rs3218693
|
0.03017
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_000051.4(ATM):c.3994-97G>A
|
rs4988000
|
0.02844
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_000051.4(ATM):c.662+38T>C
|
rs2235004
|
0.02706
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_000051.4(ATM):c.332-71A>G
|
rs2234996
|
0.02496
|
NM_000051.4(ATM):c.4910-156T>A
|
rs56161469
|
0.02390
|
NM_000051.4(ATM):c.1065+278C>T
|
rs4987929
|
0.02388
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.497-48T>G
|
rs2235001
|
0.02158
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000051.4(ATM):c.2638+85G>T
|
rs73561600
|
0.01931
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_000051.4(ATM):c.332-158del
|
rs199858304
|
0.01605
|
NM_000051.4(ATM):c.1802+65T>C
|
rs4987946
|
0.01593
|
NM_000051.4(ATM):c.186-17A>G
|
rs4987907
|
0.01587
|
NM_000051.4(ATM):c.2125-68T>C
|
rs2235008
|
0.01573
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_000051.4(ATM):c.2124+303A>C
|
rs4987953
|
0.01539
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
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.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
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.3403-34T>A
|
rs148368017
|
0.01280
|
NM_000051.4(ATM):c.185+246T>A
|
rs4987899
|
0.01239
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_000051.4(ATM):c.5762+119G>A
|
rs4988059
|
0.01175
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_000051.4(ATM):c.3402+70A>G
|
rs3218671
|
0.01120
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
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.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000051.4(ATM):c.1066-230A>G
|
rs144307279
|
0.00836
|
NM_000051.4(ATM):c.2922-21T>G
|
rs149096247
|
0.00835
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_000051.4(ATM):c.3993+48A>G
|
rs3218712
|
0.00736
|
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.4776+41C>T
|
rs114726455
|
0.00726
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
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.3747-34A>G
|
rs3092840
|
0.00656
|
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.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000051.4(ATM):c.332-158T>A
|
rs76066256
|
0.00605
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
NM_000051.4(ATM):c.497-2482A>G
|
rs78813088
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
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.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
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+18G>A
|
rs76290788
|
0.00414
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
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.5497-15G>C
|
rs3092828
|
0.00363
|
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.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
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.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
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.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000051.4(ATM):c.3403-184T>C
|
rs1020943455
|
0.00064
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
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.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000051.4(ATM):c.2251-19T>C
|
rs370713089
|
0.00024
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.2467-31T>C
|
rs141761716
|
0.00017
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)
|
rs763064034
|
0.00016
|
NM_000051.4(ATM):c.3403-16_3403-15insA
|
rs569564716
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000051.4(ATM):c.2839-18T>C
|
rs553155942
|
0.00012
|
NM_000051.4(ATM):c.3153+20T>C
|
rs200786429
|
0.00012
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
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.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.5583G>A (p.Leu1861=)
|
rs781383087
|
0.00009
|
NM_000051.4(ATM):c.572T>A (p.Ile191Asn)
|
rs767132334
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00008
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
NM_000051.4(ATM):c.3284+16T>G
|
rs376541962
|
0.00008
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
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.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu)
|
rs371526361
|
0.00007
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000051.4(ATM):c.-31+8C>T
|
rs909647503
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.1887C>T (p.Ser629=)
|
rs143097772
|
0.00006
|
NM_000051.4(ATM):c.198A>G (p.Lys66=)
|
rs540920248
|
0.00006
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
NM_000051.4(ATM):c.3639T>C (p.His1213=)
|
rs142766756
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.3993+18A>G
|
rs201171518
|
0.00006
|
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val)
|
rs746709782
|
0.00006
|
NM_000051.4(ATM):c.4449C>T (p.Ile1483=)
|
rs786203726
|
0.00006
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
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.5590A>G (p.Thr1864Ala)
|
rs1240167425
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000051.4(ATM):c.-30-53A>C
|
rs182382127
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.2376+20G>C
|
rs140364468
|
0.00005
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
NM_000051.4(ATM):c.2967T>C (p.Thr989=)
|
rs144145128
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
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.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.5005+14A>T
|
rs374337879
|
0.00005
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_000051.4(ATM):c.716T>C (p.Phe239Ser)
|
rs143198946
|
0.00005
|
NM_000051.4(ATM):c.861T>C (p.Ile287=)
|
rs55849405
|
0.00005
|
NM_000051.4(ATM):c.-18G>A
|
rs374303671
|
0.00004
|
NM_000051.4(ATM):c.-30-17A>G
|
rs549786728
|
0.00004
|
NM_000051.4(ATM):c.-31+4G>C
|
rs1008003068
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.1608-19G>T
|
rs773158102
|
0.00004
|
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser)
|
rs368209025
|
0.00004
|
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)
|
rs200124136
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
NM_000051.4(ATM):c.2124+13A>T
|
rs199648955
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
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.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
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.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
NM_000051.4(ATM):c.3777G>A (p.Leu1259=)
|
rs780192529
|
0.00004
|
NM_000051.4(ATM):c.3994-7C>T
|
rs769346400
|
0.00004
|
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)
|
rs147738621
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
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.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
NM_000051.4(ATM):c.5496+11T>C
|
rs751491395
|
0.00004
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
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.1234T>C (p.Trp412Arg)
|
rs587779812
|
0.00003
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)
|
rs587782141
|
0.00003
|
NM_000051.4(ATM):c.2057T>A (p.Leu686His)
|
rs1239416977
|
0.00003
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)
|
rs373430058
|
0.00003
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)
|
rs587782255
|
0.00003
|
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala)
|
rs926246315
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala)
|
rs552010421
|
0.00003
|
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)
|
rs786202605
|
0.00003
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)
|
rs761251711
|
0.00003
|
NM_000051.4(ATM):c.2638+9A>G
|
rs761592414
|
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.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
NM_000051.4(ATM):c.3402+10A>C
|
rs919002854
|
0.00003
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)
|
rs786203389
|
0.00003
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
NM_000051.4(ATM):c.4008C>T (p.Phe1336=)
|
rs748055132
|
0.00003
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)
|
rs201277352
|
0.00003
|
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe)
|
rs759340881
|
0.00003
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
NM_000051.4(ATM):c.469T>G (p.Cys157Gly)
|
rs1248850168
|
0.00003
|
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)
|
rs753269143
|
0.00003
|
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)
|
rs145236132
|
0.00003
|
NM_000051.4(ATM):c.496+18T>A
|
rs762171014
|
0.00003
|
NM_000051.4(ATM):c.496+20G>C
|
rs751245102
|
0.00003
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)
|
rs730881333
|
0.00003
|
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)
|
rs35850088
|
0.00003
|
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser)
|
rs587779850
|
0.00003
|
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr)
|
rs766901049
|
0.00003
|
NM_000051.4(ATM):c.5725A>G (p.Met1909Val)
|
rs750561317
|
0.00003
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.1104A>G (p.Gln368=)
|
rs560691658
|
0.00002
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
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.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)
|
rs730881343
|
0.00002
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
NM_000051.4(ATM):c.1947A>G (p.Glu649=)
|
rs1032244771
|
0.00002
|
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala)
|
rs544123518
|
0.00002
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
0.00002
|
NM_000051.4(ATM):c.2082T>C (p.Leu694=)
|
rs369642243
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu)
|
rs779004090
|
0.00002
|
NM_000051.4(ATM):c.2124+14A>G
|
rs772719886
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)
|
rs587781595
|
0.00002
|
NM_000051.4(ATM):c.2258T>C (p.Met753Thr)
|
rs587781607
|
0.00002
|
NM_000051.4(ATM):c.2338A>T (p.Met780Leu)
|
rs587781446
|
0.00002
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser)
|
rs141947469
|
0.00002
|
NM_000051.4(ATM):c.2921+16C>A
|
rs558376224
|
0.00002
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)
|
rs755237639
|
0.00002
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
NM_000051.4(ATM):c.3285-15C>T
|
rs770928986
|
0.00002
|
NM_000051.4(ATM):c.3369A>G (p.Ala1123=)
|
rs587780543
|
0.00002
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
NM_000051.4(ATM):c.3402+3A>G
|
rs786203688
|
0.00002
|
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)
|
rs779148780
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
NM_000051.4(ATM):c.381A>G (p.Thr127=)
|
rs762582522
|
0.00002
|
NM_000051.4(ATM):c.3841A>T (p.Ser1281Cys)
|
rs370785959
|
0.00002
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn)
|
rs764564211
|
0.00002
|
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu)
|
rs750771205
|
0.00002
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
NM_000051.4(ATM):c.425G>A (p.Ser142Asn)
|
rs755618506
|
0.00002
|
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)
|
rs544891616
|
0.00002
|
NM_000051.4(ATM):c.4307A>G (p.His1436Arg)
|
rs940104361
|
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.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
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.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)
|
rs746945284
|
0.00002
|
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)
|
rs763020528
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5649C>T (p.Ser1883=)
|
rs1057522721
|
0.00002
|
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys)
|
rs730881375
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.5762+6G>A
|
rs776532221
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000051.4(ATM):c.-14T>C
|
rs766166610
|
0.00001
|
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.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr)
|
rs1064794119
|
0.00001
|
NM_000051.4(ATM):c.1047G>A (p.Met349Ile)
|
rs768480943
|
0.00001
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn)
|
rs876659092
|
0.00001
|
NM_000051.4(ATM):c.1054A>G (p.Ile352Val)
|
rs748380019
|
0.00001
|
NM_000051.4(ATM):c.1055T>C (p.Ile352Thr)
|
rs369203092
|
0.00001
|
NM_000051.4(ATM):c.1065+18T>A
|
rs774940342
|
0.00001
|
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)
|
rs199869975
|
0.00001
|
NM_000051.4(ATM):c.1110C>T (p.Tyr370=)
|
rs376170600
|
0.00001
|
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile)
|
rs879254289
|
0.00001
|
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)
|
rs587779811
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
NM_000051.4(ATM):c.1225C>T (p.Leu409Phe)
|
rs786203815
|
0.00001
|
NM_000051.4(ATM):c.1235+11dup
|
rs773187419
|
0.00001
|
NM_000051.4(ATM):c.1235+5A>T
|
rs1064793679
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
NM_000051.4(ATM):c.1302A>G (p.Pro434=)
|
rs1555070715
|
0.00001
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe)
|
rs773895161
|
0.00001
|
NM_000051.4(ATM):c.1329A>C (p.Leu443=)
|
rs201460863
|
0.00001
|
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg)
|
rs1591523341
|
0.00001
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)
|
rs762382111
|
0.00001
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
NM_000051.4(ATM):c.138T>C (p.His46=)
|
rs770834907
|
0.00001
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)
|
rs766595156
|
0.00001
|
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)
|
rs56365018
|
0.00001
|
NM_000051.4(ATM):c.1515T>C (p.Phe505=)
|
rs1057520521
|
0.00001
|
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu)
|
rs864622262
|
0.00001
|
NM_000051.4(ATM):c.1607+16A>G
|
rs1057522219
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.1641C>A (p.Thr547=)
|
rs864622141
|
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.1671G>A (p.Met557Ile)
|
rs730881341
|
0.00001
|
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)
|
rs750815208
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.1726A>G (p.Ile576Val)
|
rs1064795170
|
0.00001
|
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)
|
rs876659822
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.1758G>A (p.Glu586=)
|
rs1555072017
|
0.00001
|
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu)
|
rs765847854
|
0.00001
|
NM_000051.4(ATM):c.1802+7T>G
|
rs1057521381
|
0.00001
|
NM_000051.4(ATM):c.1814A>G (p.His605Arg)
|
rs771877351
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr)
|
rs770377706
|
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.1870A>G (p.Met624Val)
|
rs863224557
|
0.00001
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
NM_000051.4(ATM):c.1893A>G (p.Pro631=)
|
rs764702196
|
0.00001
|
NM_000051.4(ATM):c.1898+3A>G
|
rs200169643
|
0.00001
|
NM_000051.4(ATM):c.1898+9T>C
|
rs1057520836
|
0.00001
|
NM_000051.4(ATM):c.1899-10T>G
|
rs763685190
|
0.00001
|
NM_000051.4(ATM):c.1899-11C>T
|
rs730881282
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser)
|
rs766259936
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.1961A>C (p.Gln654Pro)
|
rs876659966
|
0.00001
|
NM_000051.4(ATM):c.1966A>G (p.Thr656Ala)
|
rs1064793032
|
0.00001
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2027C>A (p.Ser676Tyr)
|
rs1219097850
|
0.00001
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
NM_000051.4(ATM):c.210A>T (p.Lys70Asn)
|
rs1064793030
|
0.00001
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
NM_000051.4(ATM):c.2125-11T>A
|
rs1054208254
|
0.00001
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
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.2250+18A>G
|
rs895190150
|
0.00001
|
NM_000051.4(ATM):c.2250+20T>C
|
rs377570109
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2251-7A>G
|
rs879254103
|
0.00001
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
NM_000051.4(ATM):c.229A>G (p.Ile77Val)
|
rs1064796032
|
0.00001
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
NM_000051.4(ATM):c.2373C>T (p.Thr791=)
|
rs878853494
|
0.00001
|
NM_000051.4(ATM):c.2374A>G (p.Lys792Glu)
|
rs1423446897
|
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.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)
|
rs201909756
|
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.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys)
|
rs141054982
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)
|
rs748203812
|
0.00001
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
NM_000051.4(ATM):c.2571A>G (p.Leu857=)
|
rs1191404395
|
0.00001
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
NM_000051.4(ATM):c.2589T>C (p.Asp863=)
|
rs1057520227
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)
|
rs556598169
|
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.2655A>T (p.Leu885Phe)
|
rs730881351
|
0.00001
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.2815A>G (p.Thr939Ala)
|
rs864622606
|
0.00001
|
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu)
|
rs1064795896
|
0.00001
|
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe)
|
rs1188614092
|
0.00001
|
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe)
|
rs3218688
|
0.00001
|
NM_000051.4(ATM):c.2829C>A (p.His943Gln)
|
rs1485943190
|
0.00001
|
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg)
|
rs565886680
|
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.2867G>A (p.Gly956Glu)
|
rs752099312
|
0.00001
|
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu)
|
rs750093937
|
0.00001
|
NM_000051.4(ATM):c.2921+15C>A
|
rs1057521619
|
0.00001
|
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe)
|
rs538105098
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
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.2983C>T (p.Leu995Phe)
|
rs587779831
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3001C>G (p.Leu1001Val)
|
rs377244521
|
0.00001
|
NM_000051.4(ATM):c.301G>A (p.Val101Ile)
|
rs758483894
|
0.00001
|
NM_000051.4(ATM):c.3077+5G>A
|
rs777003996
|
0.00001
|
NM_000051.4(ATM):c.3077+8C>G
|
rs752601608
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
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.3151G>C (p.Glu1051Gln)
|
rs774935453
|
0.00001
|
NM_000051.4(ATM):c.3154-11T>C
|
rs748543045
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val)
|
rs876660350
|
0.00001
|
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val)
|
rs761590782
|
0.00001
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu)
|
rs762810180
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)
|
rs730881370
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)
|
rs199883473
|
0.00001
|
NM_000051.4(ATM):c.3283A>C (p.Arg1095=)
|
rs876660302
|
0.00001
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu)
|
rs876658491
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
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.3314C>T (p.Ser1105Phe)
|
rs141999815
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser)
|
rs745863765
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3402+14A>C
|
rs200494541
|
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.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)
|
rs369518512
|
0.00001
|
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln)
|
rs786203048
|
0.00001
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg)
|
rs749933079
|
0.00001
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys)
|
rs200765255
|
0.00001
|
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu)
|
rs1555091359
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu)
|
rs879254024
|
0.00001
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
NM_000051.4(ATM):c.361T>A (p.Leu121Ile)
|
rs587782178
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
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.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
NM_000051.4(ATM):c.3817A>G (p.Asn1273Asp)
|
rs876660767
|
0.00001
|
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp)
|
rs587781787
|
0.00001
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3857G>T (p.Cys1286Phe)
|
rs876660770
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)
|
rs144535256
|
0.00001
|
NM_000051.4(ATM):c.3993+3A>G
|
rs771789242
|
0.00001
|
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser)
|
rs1064793805
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly)
|
rs958750512
|
0.00001
|
NM_000051.4(ATM):c.401G>A (p.Gly134Asp)
|
rs771166271
|
0.00001
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)
|
rs925124248
|
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.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
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.4109+9A>C
|
rs730881289
|
0.00001
|
NM_000051.4(ATM):c.4110-9C>A
|
rs730881367
|
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.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)
|
rs786203761
|
0.00001
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu)
|
rs776581499
|
0.00001
|
NM_000051.4(ATM):c.4236+11A>G
|
rs368684533
|
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.4365T>A (p.Ser1455Arg)
|
rs527471560
|
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.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4437-20T>G
|
rs558432723
|
0.00001
|
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe)
|
rs863224572
|
0.00001
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala)
|
rs767466937
|
0.00001
|
NM_000051.4(ATM):c.4518G>A (p.Val1506=)
|
rs1057524110
|
0.00001
|
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile)
|
rs1064793811
|
0.00001
|
NM_000051.4(ATM):c.4553A>C (p.His1518Pro)
|
rs762132832
|
0.00001
|
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)
|
rs141329176
|
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.4612-4T>G
|
rs569983068
|
0.00001
|
NM_000051.4(ATM):c.4615T>C (p.Leu1539=)
|
rs976206782
|
0.00001
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)
|
rs537377433
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)
|
rs759660081
|
0.00001
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala)
|
rs786202473
|
0.00001
|
NM_000051.4(ATM):c.4761C>T (p.Pro1587=)
|
rs769562370
|
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.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)
|
rs786203559
|
0.00001
|
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr)
|
rs2083038225
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)
|
rs755687834
|
0.00001
|
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)
|
rs786203857
|
0.00001
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
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.4916C>T (p.Pro1639Leu)
|
rs752459491
|
0.00001
|
NM_000051.4(ATM):c.493T>C (p.Leu165=)
|
rs878853514
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.497-14T>A
|
rs757147178
|
0.00001
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
NM_000051.4(ATM):c.5005+9C>T
|
rs730881291
|
0.00001
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
NM_000051.4(ATM):c.5049C>A (p.Phe1683Leu)
|
rs1183084231
|
0.00001
|
NM_000051.4(ATM):c.5054C>T (p.Thr1685Ile)
|
rs879254191
|
0.00001
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.506C>G (p.Ser169Cys)
|
rs587779843
|
0.00001
|
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn)
|
rs767841041
|
0.00001
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)
|
rs756197350
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.5157T>C (p.Asn1719=)
|
rs786203254
|
0.00001
|
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly)
|
rs770882126
|
0.00001
|
NM_000051.4(ATM):c.5178T>G (p.Cys1726Trp)
|
rs1446243372
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5233A>C (p.Thr1745Pro)
|
rs587782532
|
0.00001
|
NM_000051.4(ATM):c.5250G>T (p.Trp1750Cys)
|
rs587779845
|
0.00001
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
NM_000051.4(ATM):c.5319+6_5319+7del
|
rs777478613
|
0.00001
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)
|
rs768820804
|
0.00001
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)
|
rs769872474
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg)
|
rs562930561
|
0.00001
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala)
|
rs1034908940
|
0.00001
|
NM_000051.4(ATM):c.5536A>G (p.Ile1846Val)
|
rs587779849
|
0.00001
|
NM_000051.4(ATM):c.554T>C (p.Val185Ala)
|
rs730881335
|
0.00001
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
0.00001
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu)
|
rs751327903
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)
|
rs767070325
|
0.00001
|
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)
|
rs587780628
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.5675-10T>G
|
rs377599533
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
NM_000051.4(ATM):c.5718A>G (p.Gln1906=)
|
rs863224293
|
0.00001
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr)
|
rs1060501557
|
0.00001
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
NM_000051.4(ATM):c.5G>A (p.Ser2Asn)
|
rs730881360
|
0.00001
|
NM_000051.4(ATM):c.640T>C (p.Ser214Pro)
|
rs747053710
|
0.00001
|
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)
|
rs771685059
|
0.00001
|
NM_000051.4(ATM):c.662+14T>A
|
rs1450503203
|
0.00001
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
NM_000051.4(ATM):c.702A>G (p.Ala234=)
|
rs752751588
|
0.00001
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.713T>C (p.Ile238Thr)
|
rs149116878
|
0.00001
|
NM_000051.4(ATM):c.717C>T (p.Phe239=)
|
rs779410490
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)
|
rs786202096
|
0.00001
|
NM_000051.4(ATM):c.73-15C>A
|
rs1216989217
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
NM_000051.4(ATM):c.762A>G (p.Leu254=)
|
rs1313709939
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
NM_000051.4(ATM):c.79G>A (p.Val27Ile)
|
rs754770960
|
0.00001
|
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)
|
rs730881339
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
NM_000051.4(ATM):c.86A>C (p.Lys29Thr)
|
rs147009251
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
NM_000051.4(ATM):c.884C>A (p.Ala295Asp)
|
rs1044092081
|
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.902-1G>T
|
rs1064793518
|
0.00001
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000051.4(ATM):c.97C>T (p.Leu33=)
|
rs1057522542
|
0.00001
|
NM_000051.4(ATM):c.989G>C (p.Gly330Ala)
|
rs762179829
|
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_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.3(ATM):c.4493_4494insLINE1
|
|
|
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.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.-30-5dup
|
rs745673370
|
|
NM_000051.4(ATM):c.-31+6G>T
|
rs1555051184
|
|
NM_000051.4(ATM):c.-32_-31dup
|
rs876661223
|
|
NM_000051.4(ATM):c.-34A>G
|
rs563999137
|
|
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.1012A>C (p.Asn338His)
|
rs751800302
|
|
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly)
|
rs730881387
|
|
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.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1036A>G (p.Ile346Val)
|
rs1565375699
|
|
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu)
|
rs1555068567
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1044G>A (p.Leu348=)
|
rs879254039
|
|
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe)
|
rs879254039
|
|
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr)
|
rs371713984
|
|
NM_000051.4(ATM):c.1051G>C (p.Asp351His)
|
rs876659092
|
|
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)
|
rs1057521618
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-22T>G
|
rs778167931
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-31del
|
rs35813860
|
|
NM_000051.4(ATM):c.1066-31dup
|
rs35813860
|
|
NM_000051.4(ATM):c.1071T>C (p.Phe357=)
|
rs1057521608
|
|
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)
|
rs1565378803
|
|
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)
|
rs1555069560
|
|
NM_000051.4(ATM):c.1096A>G (p.Ile366Val)
|
rs879254198
|
|
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro)
|
rs879254236
|
|
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)
|
rs1565378912
|
|
NM_000051.4(ATM):c.1104A>C (p.Gln368His)
|
rs560691658
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile)
|
rs765912563
|
|
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs)
|
rs1064795624
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1165A>G (p.Ile389Val)
|
rs1060501704
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.1185A>G (p.Val395=)
|
rs1555069760
|
|
NM_000051.4(ATM):c.118A>G (p.Ile40Val)
|
rs1064796002
|
|
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)
|
rs876658833
|
|
NM_000051.4(ATM):c.119_122del (p.Ile40fs)
|
rs876659116
|
|
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu)
|
rs747563556
|
|
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu)
|
rs730881340
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
|
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)
|
rs1060501609
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1226T>C (p.Leu409Pro)
|
rs1064793442
|
|
NM_000051.4(ATM):c.1227T>C (p.Leu409=)
|
rs1060504273
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
NM_000051.4(ATM):c.1235+1del
|
rs886039640
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1236-3T>C
|
rs763976313
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)
|
rs863224556
|
|
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
|
|
|
NM_000051.4(ATM):c.1257A>G (p.Leu419=)
|
rs779037197
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
NM_000051.4(ATM):c.1266G>A (p.Lys422=)
|
rs1057520445
|
|
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys)
|
rs1064796159
|
|
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn)
|
rs1350528190
|
|
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)
|
rs1555070694
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala)
|
rs1064795171
|
|
NM_000051.4(ATM):c.1300C>T (p.Pro434Ser)
|
rs1064795171
|
|
NM_000051.4(ATM):c.1307T>A (p.Leu436Gln)
|
rs1060501608
|
|
NM_000051.4(ATM):c.1310T>C (p.Met437Thr)
|
rs587779814
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro)
|
rs1064794732
|
|
NM_000051.4(ATM):c.1327C>T (p.Leu443=)
|
rs1057524185
|
|
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys)
|
rs587782121
|
|
NM_000051.4(ATM):c.1348G>T (p.Glu450Ter)
|
rs1555070786
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
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.1367del (p.Leu456fs)
|
rs1555070832
|
|
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)
|
rs780097986
|
|
NM_000051.4(ATM):c.1373G>C (p.Cys458Ser)
|
rs1064796013
|
|
NM_000051.4(ATM):c.1375C>G (p.Leu459Val)
|
rs1064794635
|
|
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro)
|
rs587782729
|
|
NM_000051.4(ATM):c.1380G>A (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
NM_000051.4(ATM):c.138T>G (p.His46Gln)
|
rs770834907
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg)
|
rs1060501628
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
NM_000051.4(ATM):c.1431G>A (p.Lys477=)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr)
|
rs1555070953
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
NM_000051.4(ATM):c.1438T>G (p.Leu480Val)
|
rs879254243
|
|
NM_000051.4(ATM):c.146C>T (p.Ser49Phe)
|
rs1800054
|
|
NM_000051.4(ATM):c.1470dup (p.Thr491fs)
|
rs2135323866
|
|
NM_000051.4(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer)
|
rs1064795556
|
|
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
|
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr)
|
rs2080115491
|
|
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro)
|
rs753109010
|
|
NM_000051.4(ATM):c.1538A>G (p.Gln513Arg)
|
rs753109010
|
|
NM_000051.4(ATM):c.1542T>C (p.Gly514=)
|
rs572567674
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.156A>C (p.Gly52=)
|
rs876660725
|
|
NM_000051.4(ATM):c.1575G>T (p.Lys525Asn)
|
rs587780613
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1607+13T>C
|
rs1057522249
|
|
NM_000051.4(ATM):c.1607+1G>A
|
rs772926890
|
|
NM_000051.4(ATM):c.1608-12G>C
|
rs749269085
|
|
NM_000051.4(ATM):c.1608-8del
|
rs1064794419
|
|
NM_000051.4(ATM):c.1610C>A (p.Pro537His)
|
rs587782463
|
|
NM_000051.4(ATM):c.1617A>G (p.Val539=)
|
rs1060504300
|
|
NM_000051.4(ATM):c.1622G>C (p.Cys541Ser)
|
rs1555071682
|
|
NM_000051.4(ATM):c.1624T>G (p.Leu542Val)
|
rs587781366
|
|
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)
|
rs878853486
|
|
NM_000051.4(ATM):c.1650A>G (p.Ile550Met)
|
rs1060501606
|
|
NM_000051.4(ATM):c.1658del (p.Gly553fs)
|
rs1064796556
|
|
NM_000051.4(ATM):c.1669A>G (p.Met557Val)
|
rs1427517965
|
|
NM_000051.4(ATM):c.1670T>C (p.Met557Thr)
|
rs786202770
|
|
NM_000051.4(ATM):c.1670T>G (p.Met557Arg)
|
rs786202770
|
|
NM_000051.4(ATM):c.1673G>T (p.Gly558Val)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
NM_000051.4(ATM):c.1697_1706del (p.Val566fs)
|
rs1064794468
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
NM_000051.4(ATM):c.1701T>C (p.Asn567=)
|
rs878853487
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe)
|
rs1555071952
|
|
NM_000051.4(ATM):c.1745T>A (p.Phe582Tyr)
|
rs1064794747
|
|
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)
|
rs1064796083
|
|
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser)
|
rs879254227
|
|
NM_000051.4(ATM):c.1764C>G (p.Asp588Glu)
|
rs2135343562
|
|
NM_000051.4(ATM):c.1772A>G (p.Asn591Ser)
|
rs1064794804
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
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.1799A>G (p.His600Arg)
|
rs2080180530
|
|
NM_000051.4(ATM):c.1802+16T>C
|
rs995327985
|
|
NM_000051.4(ATM):c.1802+16del
|
rs1064794466
|
|
NM_000051.4(ATM):c.1803-7T>C
|
rs2135352285
|
|
NM_000051.4(ATM):c.180T>G (p.Val60=)
|
rs786201375
|
|
NM_000051.4(ATM):c.1834C>G (p.Leu612Val)
|
rs747242300
|
|
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro)
|
rs1555072474
|
|
NM_000051.4(ATM):c.184A>G (p.Arg62Gly)
|
rs876659407
|
|
NM_000051.4(ATM):c.185+10T>G
|
rs1555054317
|
|
NM_000051.4(ATM):c.185+273_185+276del
|
rs145084494
|
|
NM_000051.4(ATM):c.185+3A>G
|
rs1372755571
|
|
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)
|
rs2080230578
|
|
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
|
|
|
NM_000051.4(ATM):c.186-8del
|
rs1555055031
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.1889T>C (p.Val630Ala)
|
rs587782226
|
|
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu)
|
rs756782634
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1898+3_1898+4del
|
rs879254094
|
|
NM_000051.4(ATM):c.1899-16T>A
|
rs1352009139
|
|
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.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
NM_000051.4(ATM):c.1926A>G (p.Glu642=)
|
rs786201469
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1938A>G (p.Ser646=)
|
rs1376318521
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
NM_000051.4(ATM):c.194A>G (p.Gln65Arg)
|
rs760471526
|
|
NM_000051.4(ATM):c.1951C>T (p.Leu651=)
|
rs1057521751
|
|
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)
|
rs528165789
|
|
NM_000051.4(ATM):c.1972G>C (p.Asp658His)
|
rs1343017824
|
|
NM_000051.4(ATM):c.1989A>G (p.Leu663=)
|
rs786202748
|
|
NM_000051.4(ATM):c.1993A>G (p.Ile665Val)
|
rs1060501645
|
|
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr)
|
rs1064793789
|
|
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp)
|
rs887944555
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
NM_000051.4(ATM):c.2011A>G (p.Ile671Val)
|
rs730881344
|
|
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.2052G>C (p.Gln684His)
|
rs775890872
|
|
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.2071G>C (p.Asp691His)
|
rs762394404
|
|
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)
|
rs751515818
|
|
NM_000051.4(ATM):c.2080_2081del (p.Leu694fs)
|
rs886039591
|
|
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)
|
rs879254178
|
|
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu)
|
rs752550257
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
NM_000051.4(ATM):c.2124+19dup
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
NM_000051.4(ATM):c.2125-16T>C
|
rs1057523016
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
NM_000051.4(ATM):c.2125A>G (p.Ile709Val)
|
rs864622259
|
|
NM_000051.4(ATM):c.2125A>T (p.Ile709Phe)
|
rs864622259
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
NM_000051.4(ATM):c.2130A>G (p.Thr710=)
|
rs2080472731
|
|
NM_000051.4(ATM):c.2147T>A (p.Val716Asp)
|
rs864622294
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
NM_000051.4(ATM):c.2167_2173del (p.Val723fs)
|
rs1064793033
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
NM_000051.4(ATM):c.2200G>T (p.Val734Leu)
|
rs1390127104
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys)
|
rs1565395076
|
|
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr)
|
rs2135394428
|
|
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.2251-18dup
|
rs730881284
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr)
|
rs1064793558
|
|
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.2267C>T (p.Ala756Val)
|
|
|
NM_000051.4(ATM):c.2268A>G (p.Ala756=)
|
rs1057522845
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
NM_000051.4(ATM):c.2276G>C (p.Ser759Thr)
|
|
|
NM_000051.4(ATM):c.2284C>T (p.Leu762=)
|
rs876659401
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)
|
rs1064795831
|
|
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg)
|
rs2080576982
|
|
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp)
|
rs1555075727
|
|
NM_000051.4(ATM):c.233C>G (p.Ala78Gly)
|
rs876659669
|
|
NM_000051.4(ATM):c.2346A>C (p.Leu782=)
|
rs730881285
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser)
|
rs1591546766
|
|
NM_000051.4(ATM):c.2376+16del
|
rs779169817
|
|
NM_000051.4(ATM):c.2376+17C>T
|
rs1555075846
|
|
NM_000051.4(ATM):c.2376+1G>T
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+9TTC[2]
|
rs757318914
|
|
NM_000051.4(ATM):c.2377-15_2377-12del
|
rs730881298
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)
|
rs201793499
|
|
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.2408T>C (p.Phe803Ser)
|
rs751218526
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)
|
rs730881348
|
|
NM_000051.4(ATM):c.2434A>G (p.Met812Val)
|
rs112357985
|
|
NM_000051.4(ATM):c.2436G>A (p.Met812Ile)
|
rs876658688
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
NM_000051.4(ATM):c.2442C>T (p.Asp814=)
|
rs3218695
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn)
|
rs587778067
|
|
NM_000051.4(ATM):c.2450A>T (p.Asp817Val)
|
rs587779821
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2467-12T>C
|
rs1469467036
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
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.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser)
|
rs2229022
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu)
|
rs879254208
|
|
NM_000051.4(ATM):c.2501A>G (p.Glu834Gly)
|
rs730881349
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2505A>G (p.Val835=)
|
rs1057523506
|
|
NM_000051.4(ATM):c.251C>T (p.Ala84Val)
|
rs587781937
|
|
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser)
|
rs1555082164
|
|
NM_000051.4(ATM):c.2529T>C (p.Asn843=)
|
rs876660189
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
NM_000051.4(ATM):c.2539A>G (p.Met847Val)
|
rs587779823
|
|
NM_000051.4(ATM):c.2542G>A (p.Glu848Lys)
|
rs879254046
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
NM_000051.4(ATM):c.2564dup (p.Met855fs)
|
rs730881299
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)
|
rs1555082257
|
|
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser)
|
rs1565416655
|
|
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)
|
rs761251711
|
|
NM_000051.4(ATM):c.257C>T (p.Thr86Ile)
|
rs755326770
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys)
|
rs1591588632
|
|
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
|
|
|
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)
|
rs746265230
|
|
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.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2639-22_2639-20del
|
rs1064795554
|
|
NM_000051.4(ATM):c.2639-27_2639-22del
|
rs4987971
|
|
NM_000051.4(ATM):c.2639-87del
|
rs4987970
|
|
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln)
|
rs879254083
|
|
NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)
|
rs879254083
|
|
NM_000051.4(ATM):c.2666A>G (p.Tyr889Cys)
|
rs1064793034
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.2699T>C (p.Met900Thr)
|
rs863224558
|
|
NM_000051.4(ATM):c.2705A>C (p.Lys902Thr)
|
rs730881352
|
|
NM_000051.4(ATM):c.2705A>G (p.Lys902Arg)
|
rs730881352
|
|
NM_000051.4(ATM):c.2716T>A (p.Leu906Met)
|
rs368047468
|
|
NM_000051.4(ATM):c.2717T>C (p.Leu906Ser)
|
rs1064794688
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000051.4(ATM):c.2727del (p.Thr910fs)
|
rs1555083267
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile)
|
rs1266220962
|
|
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.2744C>A (p.Thr915Asn)
|
rs876660912
|
|
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn)
|
rs2081390566
|
|
NM_000051.4(ATM):c.276A>G (p.Lys92=)
|
rs786201137
|
|
NM_000051.4(ATM):c.2785A>G (p.Met929Val)
|
rs774067793
|
|
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr)
|
rs1060501698
|
|
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr)
|
rs56087610
|
|
NM_000051.4(ATM):c.279G>A (p.Lys93=)
|
rs368196317
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2807T>C (p.Leu936Pro)
|
rs2135526773
|
|
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.2834A>G (p.His945Arg)
|
rs752053874
|
|
NM_000051.4(ATM):c.2838+10G>A
|
rs1555083482
|
|
NM_000051.4(ATM):c.2838+9C>A
|
rs370160823
|
|
NM_000051.4(ATM):c.2839-18dup
|
rs730881287
|
|
NM_000051.4(ATM):c.2839-351del
|
rs199782940
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
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.2840A>G (p.Tyr947Cys)
|
rs587779827
|
|
NM_000051.4(ATM):c.2844A>G (p.Leu948=)
|
rs1555084628
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.2865T>C (p.Pro955=)
|
rs1555084654
|
|
NM_000051.4(ATM):c.2868A>G (p.Gly956=)
|
rs2135547882
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu)
|
rs587779828
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2893G>C (p.Asp965His)
|
rs1064793035
|
|
NM_000051.4(ATM):c.2897_2899delinsGCCAA (p.Val966fs)
|
rs730881301
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
NM_000051.4(ATM):c.2913A>G (p.Lys971=)
|
rs1057522291
|
|
NM_000051.4(ATM):c.2917C>A (p.Leu973Ile)
|
|
|
NM_000051.4(ATM):c.2917C>T (p.Leu973=)
|
rs535646511
|
|
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro)
|
rs1555084757
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)
|
rs538105098
|
|
NM_000051.4(ATM):c.2922-14T>C
|
rs761100734
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-8dup
|
rs373881770
|
|
NM_000051.4(ATM):c.2922C>T (p.Ser974=)
|
rs758045139
|
|
NM_000051.4(ATM):c.2939A>T (p.Tyr980Phe)
|
rs1064794211
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2954A>T (p.Asp985Val)
|
rs864622159
|
|
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr)
|
rs1555085052
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)
|
rs587779831
|
|
NM_000051.4(ATM):c.2994G>A (p.Val998=)
|
rs1555085118
|
|
NM_000051.4(ATM):c.299_307del (p.Leu100_Lys102del)
|
rs879254161
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3045A>C (p.Gln1015His)
|
rs1064796404
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val)
|
rs863224560
|
|
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys)
|
rs186626274
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
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.3080A>G (p.His1027Arg)
|
rs786204217
|
|
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly)
|
rs758708495
|
|
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys)
|
rs2081639925
|
|
NM_000051.4(ATM):c.3107T>C (p.Phe1036Ser)
|
|
|
NM_000051.4(ATM):c.3128T>G (p.Val1043Gly)
|
rs730881356
|
|
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe)
|
rs1591608576
|
|
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala)
|
rs876659217
|
|
NM_000051.4(ATM):c.3153+18T>G
|
rs1555085921
|
|
NM_000051.4(ATM):c.3153+1G>A
|
rs2081646501
|
|
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>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-4G>T
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-7C>T
|
rs756615573
|
|
NM_000051.4(ATM):c.3154G>A (p.Ala1052Thr)
|
rs1064793036
|
|
NM_000051.4(ATM):c.315C>T (p.Ile105=)
|
rs1057522344
|
|
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)
|
rs1800057
|
|
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)
|
rs1064796080
|
|
NM_000051.4(ATM):c.3175G>T (p.Ala1059Ser)
|
rs370282831
|
|
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)
|
rs1555086041
|
|
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr)
|
rs766342338
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)
|
rs1057522201
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
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.3278T>G (p.Ile1093Ser)
|
rs2135573226
|
|
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)
|
rs879254281
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
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.3285-9_3285-5delinsGTTC
|
rs1064796108
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
|
|
|
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)
|
rs147557621
|
|
NM_000051.4(ATM):c.3305G>A (p.Gly1102Glu)
|
rs2135642803
|
|
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn)
|
rs1555090114
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.331+68_331+69dup
|
rs11390378
|
|
NM_000051.4(ATM):c.331+69del
|
rs11390378
|
|
NM_000051.4(ATM):c.331+69dup
|
rs11390378
|
|
NM_000051.4(ATM):c.3317G>C (p.Arg1106Thr)
|
|
|
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.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)
|
rs762269034
|
|
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala)
|
rs876658963
|
|
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg)
|
rs1064795850
|
|
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met)
|
rs1022672642
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer)
|
rs1064796055
|
|
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg)
|
rs755828033
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val)
|
rs778882461
|
|
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His)
|
rs2082121841
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
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.3402+3A>C
|
rs786203688
|
|
NM_000051.4(ATM):c.3403-12_3403-4delinsATTTC
|
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.3403-14_3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.3403-15dup
|
rs1555091083
|
|
NM_000051.4(ATM):c.3403-9C>A
|
rs375483605
|
|
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)
|
rs879254069
|
|
NM_000051.4(ATM):c.3420C>A (p.Asn1140Lys)
|
|
|
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser)
|
rs879253949
|
|
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3435T>A (p.Asp1145Glu)
|
rs2082204446
|
|
NM_000051.4(ATM):c.3435T>G (p.Asp1145Glu)
|
rs2082204446
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val)
|
rs769853739
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
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.3493A>G (p.Ser1165Gly)
|
rs1351059730
|
|
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)
|
rs1555091273
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu)
|
rs876659067
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)
|
rs587782470
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3545A>T (p.Glu1182Val)
|
rs1555091393
|
|
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)
|
rs12786957
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
NM_000051.4(ATM):c.3576+10G>A
|
rs1057523063
|
|
NM_000051.4(ATM):c.3576+3A>G
|
rs2082214908
|
|
NM_000051.4(ATM):c.3577-12del
|
rs730881288
|
|
NM_000051.4(ATM):c.3577-14_3577-12del
|
rs730881288
|
|
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.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3577-7C>A
|
rs558667657
|
|
NM_000051.4(ATM):c.3577-8T>C
|
rs1555092222
|
|
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe)
|
rs2135686922
|
|
NM_000051.4(ATM):c.3594T>C (p.Ser1198=)
|
rs1555092263
|
|
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)
|
rs876660855
|
|
NM_000051.4(ATM):c.3614G>T (p.Arg1205Leu)
|
|
|
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)
|
rs786201151
|
|
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)
|
rs772724024
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
NM_000051.4(ATM):c.3634T>G (p.Ser1212Ala)
|
rs1131691390
|
|
NM_000051.4(ATM):c.3635_3646del (p.Ser1212_Asp1215del)
|
rs1064795717
|
|
NM_000051.4(ATM):c.3637C>T (p.His1213Tyr)
|
rs1064793387
|
|
NM_000051.4(ATM):c.364_368del (p.Asn122fs)
|
rs1555059095
|
|
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln)
|
rs1565444811
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis)
|
rs1064795822
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys)
|
rs367603277
|
|
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del)
|
rs1591641635
|
|
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)
|
rs1555092528
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser)
|
rs786202897
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala)
|
rs1591641743
|
|
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile)
|
rs730881363
|
|
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser)
|
rs1064793581
|
|
NM_000051.4(ATM):c.3746+17C>G
|
rs1057520850
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
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.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-304G>A
|
rs4987991
|
|
NM_000051.4(ATM):c.3747-304G>T
|
rs4987991
|
|
NM_000051.4(ATM):c.3747-7T>C
|
rs1057523136
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.3771A>G (p.Pro1257=)
|
rs1057523320
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)
|
rs786203618
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3803T>C (p.Val1268Ala)
|
rs1269513731
|
|
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)
|
rs1057522326
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3829G>T (p.Glu1277Ter)
|
|
|
NM_000051.4(ATM):c.382G>A (p.Val128Met)
|
rs587779835
|
|
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)
|
rs587781787
|
|
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)
|
rs534864280
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3888T>C (p.Pro1296=)
|
rs1555093582
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.390T>A (p.Asp130Glu)
|
rs1565356801
|
|
NM_000051.4(ATM):c.390T>G (p.Asp130Glu)
|
rs1565356801
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.3926_3929dup (p.Gln1310fs)
|
rs1555093659
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)
|
rs200976093
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3942T>C (p.Thr1314=)
|
rs558360643
|
|
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser)
|
rs1064794757
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
NM_000051.4(ATM):c.3965T>A (p.Leu1322His)
|
rs786203306
|
|
NM_000051.4(ATM):c.3967A>G (p.Lys1323Glu)
|
rs1341465811
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
NM_000051.4(ATM):c.3993+12A>G
|
rs1057520703
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
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.3994A>C (p.Ile1332Leu)
|
rs1064793534
|
|
NM_000051.4(ATM):c.3996del (p.Ile1332fs)
|
rs1555095807
|
|
NM_000051.4(ATM):c.399T>A (p.Asn133Lys)
|
rs1555059218
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)
|
rs1555095888
|
|
NM_000051.4(ATM):c.4022C>T (p.Pro1341Leu)
|
rs1555095890
|
|
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)
|
rs1565452621
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly)
|
rs917721053
|
|
NM_000051.4(ATM):c.4062A>C (p.Pro1354=)
|
rs1555095974
|
|
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys)
|
rs730881390
|
|
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys)
|
rs761123780
|
|
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)
|
rs886039488
|
|
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala)
|
rs587779837
|
|
NM_000051.4(ATM):c.408T>A (p.Ile136=)
|
rs2135123307
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4109+15A>C
|
rs1057523527
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+5G>A
|
rs2082568277
|
|
NM_000051.4(ATM):c.4110-17dup
|
rs2082636307
|
|
NM_000051.4(ATM):c.4110-18T>C
|
rs1057523967
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4118A>T (p.Asp1373Val)
|
|
|
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala)
|
rs863224571
|
|
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala)
|
rs1555096817
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4151A>C (p.His1384Pro)
|
rs757172522
|
|
NM_000051.4(ATM):c.4158T>G (p.Ile1386Met)
|
rs879254026
|
|
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val)
|
rs1591660560
|
|
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.418G>C (p.Asp140His)
|
rs55633650
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)
|
rs1565357020
|
|
NM_000051.4(ATM):c.4226C>A (p.Ser1409Tyr)
|
rs730881368
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr)
|
rs745890227
|
|
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.4237G>T (p.Asp1413Tyr)
|
rs1337392659
|
|
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys)
|
rs876660540
|
|
NM_000051.4(ATM):c.427A>G (p.Asn143Asp)
|
rs587781688
|
|
NM_000051.4(ATM):c.4303A>C (p.Lys1435Gln)
|
rs876660964
|
|
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)
|
rs876660964
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr)
|
rs1469317936
|
|
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met)
|
rs587779839
|
|
NM_000051.4(ATM):c.432dup (p.Leu145fs)
|
rs1555059330
|
|
NM_000051.4(ATM):c.4332G>C (p.Leu1444=)
|
rs753570046
|
|
NM_000051.4(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs)
|
rs1064795394
|
|
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu)
|
rs1060501683
|
|
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro)
|
rs750306932
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val)
|
rs376165779
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
NM_000051.4(ATM):c.4405del (p.Ile1469fs)
|
rs886041938
|
|
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.4416del (p.Ile1473fs)
|
rs886039697
|
|
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.4437-14dup
|
rs730881290
|
|
NM_000051.4(ATM):c.4437-1G>A
|
rs759520465
|
|
NM_000051.4(ATM):c.4437-3T>C
|
rs1555099722
|
|
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro)
|
rs1064793037
|
|
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)
|
rs786203352
|
|
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg)
|
rs1060501576
|
|
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe)
|
rs1064793476
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4514C>T (p.Ala1505Val)
|
rs1064795883
|
|
NM_000051.4(ATM):c.4516G>A (p.Val1506Met)
|
rs760542469
|
|
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg)
|
rs1064795574
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)
|
|
|
NM_000051.4(ATM):c.4560T>C (p.Ile1520=)
|
rs1057520925
|
|
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile)
|
rs141329176
|
|
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile)
|
rs1555099959
|
|
NM_000051.4(ATM):c.4584G>T (p.Val1528=)
|
rs1555100000
|
|
NM_000051.4(ATM):c.4599G>C (p.Glu1533Asp)
|
|
|
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu)
|
rs1064794041
|
|
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.4612-122G>T
|
rs4988009
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)
|
rs766438805
|
|
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met)
|
rs966733287
|
|
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe)
|
rs1591677342
|
|
NM_000051.4(ATM):c.4682T>C (p.Leu1561Pro)
|
rs2135811719
|
|
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)
|
rs886039515
|
|
NM_000051.4(ATM):c.4691C>A (p.Pro1564His)
|
rs1064793971
|
|
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.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)
|
rs1555100593
|
|
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile)
|
rs1591677692
|
|
NM_000051.4(ATM):c.4761C>G (p.Pro1587=)
|
rs769562370
|
|
NM_000051.4(ATM):c.4768C>G (p.Leu1590Val)
|
rs35962982
|
|
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)
|
rs749475519
|
|
NM_000051.4(ATM):c.4776+17C>G
|
rs767641642
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
NM_000051.4(ATM):c.4777-2A>C
|
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)
|
rs964364958
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
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.482A>G (p.Gln161Arg)
|
rs587780625
|
|
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.483G>C (p.Gln161His)
|
rs864622742
|
|
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.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)
|
rs886039592
|
|
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile)
|
rs933030670
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs)
|
rs1591685276
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
NM_000051.4(ATM):c.4910-7T>A
|
rs3092872
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile)
|
rs730881371
|
|
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.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.497-2421_497-2418del
|
rs370425572
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.498A>C (p.Glu166Asp)
|
rs587779842
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly)
|
rs2135864002
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
NM_000051.4(ATM):c.5005+15T>C
|
rs377355762
|
|
NM_000051.4(ATM):c.5005+17C>T
|
rs200688912
|
|
NM_000051.4(ATM):c.5005+19C>G
|
rs1064794787
|
|
NM_000051.4(ATM):c.5006-12T>G
|
rs2083315314
|
|
NM_000051.4(ATM):c.5006-14del
|
rs879254277
|
|
NM_000051.4(ATM):c.5006-68T>G
|
rs3092906
|
|
NM_000051.4(ATM):c.5006-8A>G
|
rs1057520447
|
|
NM_000051.4(ATM):c.5006-8A>T
|
rs1057520447
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5017A>G (p.Ser1673Gly)
|
rs2135888197
|
|
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn)
|
rs878853515
|
|
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu)
|
rs1565473530
|
|
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu)
|
rs878853516
|
|
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val)
|
rs1064794124
|
|
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr)
|
rs1307715383
|
|
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly)
|
rs980731959
|
|
NM_000051.4(ATM):c.5053A>C (p.Thr1685Pro)
|
rs879254205
|
|
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)
|
rs879254205
|
|
NM_000051.4(ATM):c.5061T>A (p.Ala1687=)
|
rs1555104600
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5072G>C (p.Ser1691Thr)
|
rs1064795911
|
|
NM_000051.4(ATM):c.5082A>G (p.Ala1694=)
|
rs778014234
|
|
NM_000051.4(ATM):c.5089A>C (p.Thr1697Pro)
|
rs142455912
|
|
NM_000051.4(ATM):c.508G>T (p.Val170Leu)
|
rs786202781
|
|
NM_000051.4(ATM):c.5091C>T (p.Thr1697=)
|
rs1555104680
|
|
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)
|
rs1555104693
|
|
NM_000051.4(ATM):c.5127G>A (p.Gln1709=)
|
rs1057521839
|
|
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys)
|
rs1060501616
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.514T>C (p.Phe172Leu)
|
rs786201608
|
|
NM_000051.4(ATM):c.5151C>T (p.Tyr1717=)
|
rs1057523468
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr)
|
rs1555104799
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-18T>C
|
rs1057522381
|
|
NM_000051.4(ATM):c.5178-4dup
|
rs747750958
|
|
NM_000051.4(ATM):c.5178-5T>C
|
rs1555105570
|
|
NM_000051.4(ATM):c.5178-7T>C
|
rs1555105564
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro)
|
rs1064793038
|
|
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)
|
rs886039627
|
|
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr)
|
rs730881372
|
|
NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs)
|
rs730881305
|
|
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs)
|
rs1555105660
|
|
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu)
|
rs1064793957
|
|
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val)
|
rs879254135
|
|
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg)
|
rs876658175
|
|
NM_000051.4(ATM):c.5246T>A (p.Phe1749Tyr)
|
rs1591708790
|
|
NM_000051.4(ATM):c.5263A>G (p.Met1755Val)
|
rs876659150
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
NM_000051.4(ATM):c.5269A>G (p.Thr1757Ala)
|
rs1591708923
|
|
NM_000051.4(ATM):c.527T>A (p.Leu176Gln)
|
rs1555066315
|
|
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)
|
rs786201703
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5319+3C>T
|
rs371640963
|
|
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn)
|
rs2083446824
|
|
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG
|
rs1064792939
|
|
NM_000051.4(ATM):c.5320-14C>T
|
rs182663175
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)
|
rs1064794192
|
|
NM_000051.4(ATM):c.5329_5349dup (p.Val1777_Glu1783dup)
|
rs587779847
|
|
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala)
|
rs587779848
|
|
NM_000051.4(ATM):c.536C>T (p.Ser179Leu)
|
rs2079698324
|
|
NM_000051.4(ATM):c.5377A>C (p.Asn1793His)
|
rs730881374
|
|
NM_000051.4(ATM):c.537A>T (p.Ser179=)
|
rs1555066338
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)
|
rs879254274
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
NM_000051.4(ATM):c.539A>G (p.Gln180Arg)
|
rs730881334
|
|
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5405A>G (p.His1802Arg)
|
rs878853521
|
|
NM_000051.4(ATM):c.5405A>T (p.His1802Leu)
|
rs878853521
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5430T>G (p.Thr1810=)
|
rs1057522229
|
|
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu)
|
rs2083506323
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln)
|
rs2083509111
|
|
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile)
|
rs779720793
|
|
NM_000051.4(ATM):c.5496+11T>G
|
rs751491395
|
|
NM_000051.4(ATM):c.5496+1G>A
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+1G>T
|
rs879254180
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-3T>G
|
rs1064795486
|
|
NM_000051.4(ATM):c.5497-9A>G
|
rs878853524
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val)
|
rs876660472
|
|
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly)
|
rs587781390
|
|
NM_000051.4(ATM):c.5516dup (p.Thr1840fs)
|
rs879254242
|
|
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)
|
rs1555107293
|
|
NM_000051.4(ATM):c.5534del (p.Tyr1844_Leu1845insTer)
|
rs1555107315
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe)
|
rs200842502
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
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.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)
|
rs786203902
|
|
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile)
|
rs779156037
|
|
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5618G>C (p.Cys1873Ser)
|
|
|
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe)
|
rs587782239
|
|
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)
|
rs1064793031
|
|
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)
|
rs762304746
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg)
|
rs786203086
|
|
NM_000051.4(ATM):c.5640G>T (p.Thr1880=)
|
rs757103582
|
|
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)
|
rs587778077
|
|
NM_000051.4(ATM):c.5663A>T (p.Asn1888Ile)
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.5677T>A (p.Ser1893Thr)
|
rs730881376
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
NM_000051.4(ATM):c.56G>A (p.Arg19Lys)
|
rs1064793029
|
|
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)
|
rs864622127
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu)
|
rs1064794105
|
|
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly)
|
rs1060501688
|
|
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)
|
rs1555109147
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+26C>T
|
rs78330259
|
|
NM_000051.4(ATM):c.577G>A (p.Ala193Thr)
|
rs876659832
|
|
NM_000051.4(ATM):c.578C>G (p.Ala193Gly)
|
rs1064793928
|
|
NM_000051.4(ATM):c.584C>T (p.Thr195Ile)
|
rs1196611507
|
|
NM_000051.4(ATM):c.589G>A (p.Gly197Arg)
|
rs764080545
|
|
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr)
|
rs879254127
|
|
NM_000051.4(ATM):c.5G>C (p.Ser2Thr)
|
rs730881360
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
NM_000051.4(ATM):c.615A>G (p.Leu205=)
|
rs1555066455
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
|
NM_000051.4(ATM):c.630G>T (p.Leu210Phe)
|
|
|
NM_000051.4(ATM):c.633C>G (p.Asp211Glu)
|
rs1060501634
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
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.663-144del
|
rs11298747
|
|
NM_000051.4(ATM):c.663-269C>G
|
rs149955262
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.66del (p.Glu22fs)
|
rs2135006691
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)
|
rs879254070
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.697T>G (p.Leu233Val)
|
|
|
NM_000051.4(ATM):c.709dup (p.Thr237fs)
|
rs2079758064
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
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.73-3C>G
|
rs1555054039
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
NM_000051.4(ATM):c.741T>C (p.Phe247=)
|
rs876659081
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.773T>G (p.Ile258Ser)
|
rs730881337
|
|
NM_000051.4(ATM):c.785T>C (p.Leu262Ser)
|
rs864622163
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.791A>G (p.Tyr264Cys)
|
rs730881338
|
|
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)
|
rs876660962
|
|
NM_000051.4(ATM):c.800C>G (p.Thr267Ser)
|
rs2135241349
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)
|
rs587781857
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.826A>C (p.Lys276Gln)
|
rs587782902
|
|
NM_000051.4(ATM):c.826A>G (p.Lys276Glu)
|
rs587782902
|
|
NM_000051.4(ATM):c.838A>G (p.Ile280Val)
|
rs764048041
|
|
NM_000051.4(ATM):c.843A>G (p.Glu281=)
|
rs1057523419
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
NM_000051.4(ATM):c.881G>T (p.Gly294Val)
|
|
|
NM_000051.4(ATM):c.887A>G (p.Lys296Arg)
|
rs1064795297
|
|
NM_000051.4(ATM):c.898A>G (p.Lys300Glu)
|
rs2135244347
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.901+14del
|
rs1064795038
|
|
NM_000051.4(ATM):c.901+1G>C
|
rs748840480
|
|
NM_000051.4(ATM):c.902-10T>C
|
rs2135264378
|
|
NM_000051.4(ATM):c.909T>C (p.Tyr303=)
|
rs1555068288
|
|
NM_000051.4(ATM):c.927A>T (p.Arg309Ser)
|
rs935834518
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)
|
rs587782257
|
|
NM_000051.4(ATM):c.936A>G (p.Leu312=)
|
rs587782257
|
|
NM_000051.4(ATM):c.938A>G (p.Tyr313Cys)
|
rs2135265521
|
|
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)
|
rs863224583
|
|
NM_000051.4(ATM):c.941A>G (p.Asn314Ser)
|
rs886047610
|
|
NM_000051.4(ATM):c.975T>C (p.His325=)
|
rs746825207
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
NM_000051.4(ATM):c.990A>G (p.Gly330=)
|
rs1555068447
|
|