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.3576+687C>T
|
rs1003623
|
0.52044
|
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.185+616T>C
|
rs4987905
|
0.01235
|
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.3077+61G>A
|
rs3218679
|
0.00895
|
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.3993+133A>G
|
rs142220799
|
0.00855
|
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.569T>A (p.Ile190Lys)
|
rs201159454
|
0.00622
|
NM_000051.4(ATM):c.332-158T>A
|
rs76066256
|
0.00605
|
NM_000051.4(ATM):c.2125-69C>G
|
rs2235007
|
0.00599
|
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.-30-44T>C
|
rs56096834
|
0.00230
|
NM_000051.4(ATM):c.5496+231G>A
|
rs4988039
|
0.00229
|
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.-31+1129T>A
|
rs552689366
|
0.00163
|
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.2838+194A>G
|
rs749105426
|
0.00132
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000051.4(ATM):c.5005+43G>A
|
rs144753630
|
0.00116
|
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.2125-48T>C
|
rs371067508
|
0.00101
|
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.2250+75T>C
|
rs2235009
|
0.00046
|
NM_000051.4(ATM):c.3284+382T>C
|
rs189826589
|
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.4109+54A>T
|
rs181020146
|
0.00040
|
NM_000051.4(ATM):c.3403-14A>T
|
rs941737393
|
0.00038
|
NM_000051.4(ATM):c.2922-23C>A
|
rs571402682
|
0.00034
|
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.4612-32_4612-30del
|
rs113149503
|
0.00031
|
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.3403-15_3403-14insTA
|
rs1555091084
|
0.00021
|
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_000051.3(ATM):c.-371G>C
|
rs890835455
|
0.00019
|
NM_000051.4(ATM):c.-31+1782A>C
|
rs749439725
|
0.00019
|
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.3994-111C>G
|
rs879004695
|
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.4110-25G>A
|
rs368881313
|
0.00014
|
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg)
|
rs587782442
|
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.3576+687_3576+688insTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT
|
rs1555091763
|
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.5320-23T>A
|
rs753483198
|
0.00010
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
NM_000051.4(ATM):c.186-34C>T
|
rs371745892
|
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.4237-71A>G
|
rs45547832
|
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.1236-2A>T
|
rs80159221
|
0.00008
|
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.3403-14A>G
|
rs941737393
|
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_000051.3(ATM):c.-218T>A
|
rs886047609
|
0.00006
|
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.1899-123A>G
|
rs55744559
|
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.2527A>G (p.Asn843Asp)
|
rs1162447958
|
0.00006
|
NM_000051.4(ATM):c.2679A>T (p.Gln893His)
|
rs139316519
|
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.3403-14_3403-13del
|
rs1565441205
|
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.5675-13T>A
|
rs373219694
|
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_000051.3(ATM):c.-274G>A
|
rs886047606
|
0.00004
|
NM_000051.3(ATM):c.-398G>A
|
rs996438197
|
0.00004
|
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.129A>G (p.Leu43=)
|
rs780616292
|
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.2124+21A>G
|
rs770563728
|
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.3106T>C (p.Phe1036Leu)
|
rs747079458
|
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.5675-88A>G
|
rs1363005755
|
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.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)
|
rs876659240
|
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.1556T>C (p.Val519Ala)
|
rs574458765
|
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.2013A>T (p.Ile671=)
|
rs1371341017
|
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.2151G>C (p.Arg717=)
|
rs1331738032
|
0.00003
|
NM_000051.4(ATM):c.2180G>T (p.Gly727Val)
|
rs1446080226
|
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.2554C>T (p.Gln852Ter)
|
rs758081262
|
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.2603A>G (p.Asp868Gly)
|
rs750322758
|
0.00003
|
NM_000051.4(ATM):c.2638+9A>G
|
rs761592414
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
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.2751C>T (p.Ser917=)
|
rs876659611
|
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.3373T>C (p.Leu1125=)
|
rs775277598
|
0.00003
|
NM_000051.4(ATM):c.3402+10A>C
|
rs919002854
|
0.00003
|
NM_000051.4(ATM):c.3514G>C (p.Ala1172Pro)
|
rs779946941
|
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.389A>G (p.Asp130Gly)
|
rs766034066
|
0.00003
|
NM_000051.4(ATM):c.395C>T (p.Ser132Phe)
|
rs750969764
|
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.4444T>C (p.Cys1482Arg)
|
rs752559455
|
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.4687G>A (p.Asp1563Asn)
|
rs1464587365
|
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.4910-248T>C
|
rs550591525
|
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.5005+7T>C
|
rs527286038
|
0.00003
|
NM_000051.4(ATM):c.5069A>G (p.His1690Arg)
|
rs863224574
|
0.00003
|
NM_000051.4(ATM):c.5183A>C (p.Lys1728Thr)
|
rs1060501613
|
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.5566G>A (p.Glu1856Lys)
|
rs1465041573
|
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.601C>G (p.Gln201Glu)
|
rs886039666
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.668A>G (p.Glu223Gly)
|
rs776227830
|
0.00003
|
NM_000051.4(ATM):c.1065+17A>C
|
rs373230921
|
0.00002
|
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly)
|
rs775767808
|
0.00002
|
NM_000051.4(ATM):c.1104A>G (p.Gln368=)
|
rs560691658
|
0.00002
|
NM_000051.4(ATM):c.1235+20T>G
|
rs762656752
|
0.00002
|
NM_000051.4(ATM):c.1237C>T (p.Leu413=)
|
rs1565381686
|
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.1702A>G (p.Arg568Gly)
|
rs876659425
|
0.00002
|
NM_000051.4(ATM):c.1707C>T (p.Ser569=)
|
rs1381837075
|
0.00002
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
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.2115C>T (p.Tyr705=)
|
rs876659149
|
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.2262A>G (p.Gln754=)
|
rs778320952
|
0.00002
|
NM_000051.4(ATM):c.2338A>T (p.Met780Leu)
|
rs587781446
|
0.00002
|
NM_000051.4(ATM):c.2466+1552G>C
|
rs963653732
|
0.00002
|
NM_000051.4(ATM):c.2619A>G (p.Gly873=)
|
rs777979257
|
0.00002
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
NM_000051.4(ATM):c.2638+8C>T
|
rs776116433
|
0.00002
|
NM_000051.4(ATM):c.2736G>A (p.Gln912=)
|
rs757305928
|
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.2922-8T>C
|
rs545892367
|
0.00002
|
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys)
|
rs587780619
|
0.00002
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
0.00002
|
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)
|
rs746133264
|
0.00002
|
NM_000051.4(ATM):c.308A>G (p.Tyr103Cys)
|
rs1249361503
|
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.3446A>G (p.Asn1149Ser)
|
rs1414846775
|
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.3746+16A>T
|
rs1252299197
|
0.00002
|
NM_000051.4(ATM):c.3747-9T>C
|
rs760676626
|
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.3994-830A>C
|
rs869312479
|
0.00002
|
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr)
|
rs1309605588
|
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.4247A>G (p.Gln1416Arg)
|
rs758180727
|
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.4476C>T (p.Ser1492=)
|
rs780236656
|
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.4612-17T>C
|
rs550966528
|
0.00002
|
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
NM_000051.4(ATM):c.4662C>A (p.Asn1554Lys)
|
rs776761757
|
0.00002
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
NM_000051.4(ATM):c.4910-20T>G
|
rs773731240
|
0.00002
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
NM_000051.4(ATM):c.49C>A (p.His17Asn)
|
rs876658161
|
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.504C>G (p.Phe168Leu)
|
rs1060504312
|
0.00002
|
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys)
|
rs1341457041
|
0.00002
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
NM_000051.4(ATM):c.5251G>C (p.Glu1751Gln)
|
rs755397489
|
0.00002
|
NM_000051.4(ATM):c.5319+8A>G
|
rs375051697
|
0.00002
|
NM_000051.4(ATM):c.5364C>T (p.Gly1788=)
|
rs780134093
|
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.852A>G (p.Gln284=)
|
rs140367473
|
0.00002
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000051.3(ATM):c.-229C>G
|
rs886047608
|
0.00001
|
NM_000051.3(ATM):c.-282T>G
|
rs1301840777
|
0.00001
|
NM_000051.4(ATM):c.-14T>C
|
rs766166610
|
0.00001
|
NM_000051.4(ATM):c.-19T>C
|
rs890075956
|
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.1023C>T (p.Val341=)
|
rs35728619
|
0.00001
|
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr)
|
rs1064794119
|
0.00001
|
NM_000051.4(ATM):c.1029A>G (p.Glu343=)
|
rs778388800
|
0.00001
|
NM_000051.4(ATM):c.1038T>A (p.Ile346=)
|
rs749950833
|
0.00001
|
NM_000051.4(ATM):c.1047G>A (p.Met349Ile)
|
rs768480943
|
0.00001
|
NM_000051.4(ATM):c.1049C>T (p.Ala350Val)
|
rs375049090
|
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.1097_1101del (p.Ile366fs)
|
rs2079990512
|
0.00001
|
NM_000051.4(ATM):c.10G>A (p.Val4Ile)
|
rs1438588853
|
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.1114A>G (p.Thr372Ala)
|
rs1591517491
|
0.00001
|
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)
|
rs587779811
|
0.00001
|
NM_000051.4(ATM):c.1135G>A (p.Asp379Asn)
|
rs1591517693
|
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.1143T>A (p.Ser381Arg)
|
rs755991658
|
0.00001
|
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp)
|
rs777755997
|
0.00001
|
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg)
|
rs757486696
|
0.00001
|
NM_000051.4(ATM):c.1178G>T (p.Trp393Leu)
|
rs1025339570
|
0.00001
|
NM_000051.4(ATM):c.1197C>T (p.His399=)
|
rs786201131
|
0.00001
|
NM_000051.4(ATM):c.1203G>A (p.Gln401=)
|
rs1214283617
|
0.00001
|
NM_000051.4(ATM):c.1206G>A (p.Lys402=)
|
rs776001057
|
0.00001
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
NM_000051.4(ATM):c.1209A>G (p.Ser403=)
|
rs1213832469
|
0.00001
|
NM_000051.4(ATM):c.121A>G (p.Lys41Glu)
|
rs1060501672
|
0.00001
|
NM_000051.4(ATM):c.1222G>A (p.Asp408Asn)
|
rs864622548
|
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+14A>G
|
rs776931625
|
0.00001
|
NM_000051.4(ATM):c.1235+3A>G
|
rs1417190414
|
0.00001
|
NM_000051.4(ATM):c.1235+5A>T
|
rs1064793679
|
0.00001
|
NM_000051.4(ATM):c.1235+6G>A
|
rs2080003881
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.1236-2dup
|
rs1555070601
|
0.00001
|
NM_000051.4(ATM):c.1236-8T>C
|
rs756160331
|
0.00001
|
NM_000051.4(ATM):c.1242G>A (p.Gln414=)
|
rs786203667
|
0.00001
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
NM_000051.4(ATM):c.1292A>C (p.Glu431Ala)
|
rs1320262218
|
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.1314A>G (p.Ile438Met)
|
rs770573462
|
0.00001
|
NM_000051.4(ATM):c.1317A>G (p.Leu439=)
|
rs1232968268
|
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.1338G>A (p.Gln446=)
|
rs771673512
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1343A>G (p.His448Arg)
|
rs1555070781
|
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.1362T>C (p.Tyr454=)
|
rs1373614735
|
0.00001
|
NM_000051.4(ATM):c.1363G>A (p.Val455Met)
|
rs368879876
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
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.1407G>A (p.Arg469=)
|
rs1555070912
|
0.00001
|
NM_000051.4(ATM):c.1410A>G (p.Ser470=)
|
rs939650649
|
0.00001
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
NM_000051.4(ATM):c.1441T>G (p.Leu481Val)
|
rs775080283
|
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.1455T>C (p.Asn485=)
|
rs1385019623
|
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.1471A>G (p.Thr491Ala)
|
rs1555071008
|
0.00001
|
NM_000051.4(ATM):c.1473C>G (p.Thr491=)
|
rs764937436
|
0.00001
|
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys)
|
rs750280306
|
0.00001
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
NM_000051.4(ATM):c.1487G>A (p.Ser496Asn)
|
rs778890679
|
0.00001
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
NM_000051.4(ATM):c.149A>G (p.Lys50Arg)
|
rs1479478300
|
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.1536T>A (p.Ile512=)
|
rs1060504296
|
0.00001
|
NM_000051.4(ATM):c.153A>G (p.Gln51=)
|
rs2078823585
|
0.00001
|
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)
|
rs786202195
|
0.00001
|
NM_000051.4(ATM):c.1550T>G (p.Val517Gly)
|
rs777986229
|
0.00001
|
NM_000051.4(ATM):c.1575G>A (p.Lys525=)
|
rs587780613
|
0.00001
|
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu)
|
rs864622262
|
0.00001
|
NM_000051.4(ATM):c.1585G>C (p.Gly529Arg)
|
rs1325651820
|
0.00001
|
NM_000051.4(ATM):c.1601C>T (p.Pro534Leu)
|
rs587782212
|
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.1608-8T>C
|
rs201110707
|
0.00001
|
NM_000051.4(ATM):c.1614A>G (p.Ala538=)
|
rs876659636
|
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.1641C>G (p.Thr547=)
|
rs864622141
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.1656A>G (p.Pro552=)
|
rs1060504275
|
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.1675A>G (p.Ile559Val)
|
rs1060501545
|
0.00001
|
NM_000051.4(ATM):c.167A>C (p.Asn56Thr)
|
rs1040197895
|
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.1709T>C (p.Phe570Ser)
|
rs777301065
|
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.1746C>T (p.Phe582=)
|
rs145629926
|
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.1768G>C (p.Glu590Gln)
|
rs876659283
|
0.00001
|
NM_000051.4(ATM):c.1782A>T (p.Glu594Asp)
|
rs876660494
|
0.00001
|
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu)
|
rs765847854
|
0.00001
|
NM_000051.4(ATM):c.179T>C (p.Val60Ala)
|
rs988441570
|
0.00001
|
NM_000051.4(ATM):c.1802+20A>G
|
rs1009750697
|
0.00001
|
NM_000051.4(ATM):c.1802+7T>G
|
rs1057521381
|
0.00001
|
NM_000051.4(ATM):c.1805A>G (p.Asn602Ser)
|
rs1173305253
|
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.185+31T>C
|
rs571866895
|
0.00001
|
NM_000051.4(ATM):c.185+4T>A
|
rs1060501685
|
0.00001
|
NM_000051.4(ATM):c.185+7T>C
|
rs143404880
|
0.00001
|
NM_000051.4(ATM):c.185+8A>G
|
rs753891198
|
0.00001
|
NM_000051.4(ATM):c.186-19G>A
|
rs748791429
|
0.00001
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
NM_000051.4(ATM):c.186-8T>C
|
rs1355404740
|
0.00001
|
NM_000051.4(ATM):c.1870A>G (p.Met624Val)
|
rs863224557
|
0.00001
|
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile)
|
rs766757573
|
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.1899-15C>A
|
rs759924007
|
0.00001
|
NM_000051.4(ATM):c.1899-9T>G
|
rs1591533635
|
0.00001
|
NM_000051.4(ATM):c.1903C>T (p.His635Tyr)
|
rs761491947
|
0.00001
|
NM_000051.4(ATM):c.1907A>G (p.His636Arg)
|
rs1333990758
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.1929T>G (p.Leu643=)
|
rs876659911
|
0.00001
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
NM_000051.4(ATM):c.193C>G (p.Gln65Glu)
|
rs775248597
|
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.1977G>T (p.Lys659Asn)
|
rs1060501565
|
0.00001
|
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys)
|
rs750897021
|
0.00001
|
NM_000051.4(ATM):c.2013A>G (p.Ile671Met)
|
rs1371341017
|
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.2048A>G (p.His683Arg)
|
rs1421091487
|
0.00001
|
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)
|
rs1060501691
|
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.2075G>A (p.Arg692His)
|
rs751515818
|
0.00001
|
NM_000051.4(ATM):c.2080C>T (p.Leu694Phe)
|
rs759617968
|
0.00001
|
NM_000051.4(ATM):c.2088A>G (p.Gly696=)
|
rs1555073469
|
0.00001
|
NM_000051.4(ATM):c.210A>T (p.Lys70Asn)
|
rs1064793030
|
0.00001
|
NM_000051.4(ATM):c.2111A>C (p.Asn704Thr)
|
rs753903558
|
0.00001
|
NM_000051.4(ATM):c.2116T>C (p.Ser706Pro)
|
rs536609092
|
0.00001
|
NM_000051.4(ATM):c.2124+16A>G
|
rs762709930
|
0.00001
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp)
|
rs1468938522
|
0.00001
|
NM_000051.4(ATM):c.2125-11T>A
|
rs1054208254
|
0.00001
|
NM_000051.4(ATM):c.2125-8A>G
|
rs757565418
|
0.00001
|
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala)
|
rs750506930
|
0.00001
|
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp)
|
rs587781654
|
0.00001
|
NM_000051.4(ATM):c.2141C>T (p.Thr714Ile)
|
rs1555074846
|
0.00001
|
NM_000051.4(ATM):c.2167G>T (p.Val723Leu)
|
rs1419404231
|
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.2176C>A (p.Leu726Ile)
|
rs775266056
|
0.00001
|
NM_000051.4(ATM):c.2181C>T (p.Gly727=)
|
rs876658836
|
0.00001
|
NM_000051.4(ATM):c.2207C>T (p.Ala736Val)
|
rs587780617
|
0.00001
|
NM_000051.4(ATM):c.2208T>C (p.Ala736=)
|
rs761874856
|
0.00001
|
NM_000051.4(ATM):c.2229A>G (p.Ser743=)
|
rs758453118
|
0.00001
|
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu)
|
rs1017383703
|
0.00001
|
NM_000051.4(ATM):c.2238C>T (p.Phe746=)
|
rs786203595
|
0.00001
|
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr)
|
rs1060501540
|
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.2251-11A>G
|
rs755369461
|
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.2284C>G (p.Leu762Val)
|
rs876659401
|
0.00001
|
NM_000051.4(ATM):c.229A>G (p.Ile77Val)
|
rs1064796032
|
0.00001
|
NM_000051.4(ATM):c.2322T>C (p.Gly774=)
|
rs769575297
|
0.00001
|
NM_000051.4(ATM):c.2331A>G (p.Arg777=)
|
rs1313482346
|
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.2369G>C (p.Cys790Ser)
|
rs764538548
|
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.2376+16T>C
|
rs751221076
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2376+6A>C
|
rs1409294054
|
0.00001
|
NM_000051.4(ATM):c.2377-13G>C
|
rs1296989358
|
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.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
NM_000051.4(ATM):c.2379G>A (p.Lys793=)
|
rs1333875379
|
0.00001
|
NM_000051.4(ATM):c.238C>T (p.Pro80Ser)
|
rs750597831
|
0.00001
|
NM_000051.4(ATM):c.2419T>C (p.Leu807=)
|
rs1555076667
|
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.2459A>G (p.Lys820Arg)
|
rs952566855
|
0.00001
|
NM_000051.4(ATM):c.2466+19T>G
|
rs374249638
|
0.00001
|
NM_000051.4(ATM):c.2466A>G (p.Leu822=)
|
rs747108452
|
0.00001
|
NM_000051.4(ATM):c.2467-12T>G
|
rs1469467036
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2467-9T>A
|
rs1555082040
|
0.00001
|
NM_000051.4(ATM):c.246A>G (p.Val82=)
|
rs757944864
|
0.00001
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
NM_000051.4(ATM):c.2475C>T (p.Phe825=)
|
rs776907383
|
0.00001
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
NM_000051.4(ATM):c.2500G>C (p.Glu834Gln)
|
rs876660430
|
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.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
NM_000051.4(ATM):c.2550G>A (p.Glu850=)
|
rs1399925352
|
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.2583C>T (p.Tyr861=)
|
rs886039633
|
0.00001
|
NM_000051.4(ATM):c.2589T>C (p.Asp863=)
|
rs1057520227
|
0.00001
|
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly)
|
rs764842086
|
0.00001
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)
|
rs786202977
|
0.00001
|
NM_000051.4(ATM):c.261A>G (p.Gln87=)
|
rs2078887941
|
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.2637A>G (p.Ile879Met)
|
rs1449494151
|
0.00001
|
NM_000051.4(ATM):c.2638+3A>G
|
rs876660552
|
0.00001
|
NM_000051.4(ATM):c.2639-18A>G
|
rs1555083057
|
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.2639-9T>G
|
rs1457466709
|
0.00001
|
NM_000051.4(ATM):c.2647A>G (p.Asn883Asp)
|
rs587782382
|
0.00001
|
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe)
|
rs730881351
|
0.00001
|
NM_000051.4(ATM):c.2688T>C (p.Leu896=)
|
rs769490863
|
0.00001
|
NM_000051.4(ATM):c.2694A>C (p.Leu898Phe)
|
rs774395596
|
0.00001
|
NM_000051.4(ATM):c.2698A>G (p.Met900Val)
|
rs138468963
|
0.00001
|
NM_000051.4(ATM):c.270G>T (p.Arg90Ser)
|
rs1313014736
|
0.00001
|
NM_000051.4(ATM):c.2712G>A (p.Leu904=)
|
rs1409179618
|
0.00001
|
NM_000051.4(ATM):c.2716T>C (p.Leu906=)
|
rs368047468
|
0.00001
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala)
|
rs1265391373
|
0.00001
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
NM_000051.4(ATM):c.2781G>T (p.Leu927Phe)
|
rs770565353
|
0.00001
|
NM_000051.4(ATM):c.2786T>C (p.Met929Thr)
|
rs745737218
|
0.00001
|
NM_000051.4(ATM):c.2796T>C (p.Asp932=)
|
rs1273202474
|
0.00001
|
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys)
|
rs56087610
|
0.00001
|
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly)
|
rs772054979
|
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.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2838+8dup
|
rs1364656453
|
0.00001
|
NM_000051.4(ATM):c.2839-10A>G
|
rs770032309
|
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.2862T>C (p.Leu954=)
|
rs1426256662
|
0.00001
|
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu)
|
rs752099312
|
0.00001
|
NM_000051.4(ATM):c.2878C>A (p.Pro960Thr)
|
rs876659412
|
0.00001
|
NM_000051.4(ATM):c.2879C>A (p.Pro960His)
|
rs587779828
|
0.00001
|
NM_000051.4(ATM):c.2889G>A (p.Met963Ile)
|
rs35098825
|
0.00001
|
NM_000051.4(ATM):c.2894A>T (p.Asp965Val)
|
rs876658628
|
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.2922-20T>G
|
rs768172184
|
0.00001
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.292A>C (p.Ser98Arg)
|
rs768318076
|
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.2940T>C (p.Tyr980=)
|
rs748119565
|
0.00001
|
NM_000051.4(ATM):c.2953G>C (p.Asp985His)
|
rs1210518784
|
0.00001
|
NM_000051.4(ATM):c.2968A>G (p.Ile990Val)
|
rs899241025
|
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.2992G>A (p.Val998Met)
|
rs199635238
|
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.3003A>G (p.Leu1001=)
|
rs765969190
|
0.00001
|
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr)
|
rs1421074475
|
0.00001
|
NM_000051.4(ATM):c.301G>A (p.Val101Ile)
|
rs758483894
|
0.00001
|
NM_000051.4(ATM):c.3030C>T (p.Asn1010=)
|
rs876660913
|
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.3077+9del
|
rs2081578007
|
0.00001
|
NM_000051.4(ATM):c.3078-11C>T
|
rs756972430
|
0.00001
|
NM_000051.4(ATM):c.3078-17A>G
|
rs2081636353
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3099A>G (p.Lys1033=)
|
rs1813895840
|
0.00001
|
NM_000051.4(ATM):c.309C>T (p.Tyr103=)
|
rs777499935
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3114A>T (p.Val1038=)
|
rs374451781
|
0.00001
|
NM_000051.4(ATM):c.3126A>G (p.Leu1042=)
|
rs770038542
|
0.00001
|
NM_000051.4(ATM):c.3132T>C (p.Asn1044=)
|
rs1430714562
|
0.00001
|
NM_000051.4(ATM):c.3138T>G (p.Leu1046=)
|
rs3092858
|
0.00001
|
NM_000051.4(ATM):c.3147G>T (p.Leu1049Phe)
|
rs1060501686
|
0.00001
|
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln)
|
rs774935453
|
0.00001
|
NM_000051.4(ATM):c.3153+11G>A
|
rs760086749
|
0.00001
|
NM_000051.4(ATM):c.3153+18T>C
|
rs1555085921
|
0.00001
|
NM_000051.4(ATM):c.3153+49C>T
|
rs1221844555
|
0.00001
|
NM_000051.4(ATM):c.3154-11T>C
|
rs748543045
|
0.00001
|
NM_000051.4(ATM):c.3154-16A>G
|
rs556888479
|
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.3165T>C (p.Tyr1055=)
|
rs768038217
|
0.00001
|
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val)
|
rs761590782
|
0.00001
|
NM_000051.4(ATM):c.3189A>G (p.Val1063=)
|
rs76122065
|
0.00001
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
NM_000051.4(ATM):c.3191T>C (p.Met1064Thr)
|
rs1160497775
|
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.3216A>G (p.Glu1072=)
|
rs373699194
|
0.00001
|
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)
|
rs730881370
|
0.00001
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr)
|
rs1302626569
|
0.00001
|
NM_000051.4(ATM):c.3247C>T (p.His1083Tyr)
|
rs768362411
|
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+6G>C
|
rs1228954245
|
0.00001
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
NM_000051.4(ATM):c.3285-19T>C
|
rs749167327
|
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+10G>A
|
rs755557468
|
0.00001
|
NM_000051.4(ATM):c.331+7G>A
|
rs1184757004
|
0.00001
|
NM_000051.4(ATM):c.3311C>A (p.Ser1104Tyr)
|
rs1555090126
|
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.3330A>G (p.Ala1110=)
|
rs1009383081
|
0.00001
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro)
|
rs876658363
|
0.00001
|
NM_000051.4(ATM):c.3333T>G (p.Leu1111=)
|
rs750932338
|
0.00001
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met)
|
rs777705500
|
0.00001
|
NM_000051.4(ATM):c.3351A>G (p.Gln1117=)
|
rs777375945
|
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.337C>T (p.Pro113Ser)
|
rs1060501678
|
0.00001
|
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg)
|
rs587781911
|
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.3432G>A (p.Leu1144=)
|
rs1060501625
|
0.00001
|
NM_000051.4(ATM):c.3443A>G (p.Tyr1148Cys)
|
rs773169285
|
0.00001
|
NM_000051.4(ATM):c.3453A>G (p.Lys1151=)
|
rs977448999
|
0.00001
|
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr)
|
rs1060501588
|
0.00001
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)
|
rs372766122
|
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.3520T>G (p.Phe1174Val)
|
rs547400704
|
0.00001
|
NM_000051.4(ATM):c.3521T>C (p.Phe1174Ser)
|
rs1416574870
|
0.00001
|
NM_000051.4(ATM):c.3526C>G (p.Leu1176Val)
|
rs1462728109
|
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.3558A>G (p.Glu1186=)
|
rs12786957
|
0.00001
|
NM_000051.4(ATM):c.3576+14A>C
|
rs1416761865
|
0.00001
|
NM_000051.4(ATM):c.3576+22A>G
|
rs750142376
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3577-12T>C
|
rs757616718
|
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.3606A>G (p.Gly1202=)
|
rs1189826741
|
0.00001
|
NM_000051.4(ATM):c.3608A>G (p.Tyr1203Cys)
|
rs1453849799
|
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.3622_3624del (p.Asp1208del)
|
rs2082297886
|
0.00001
|
NM_000051.4(ATM):c.3627T>C (p.Phe1209=)
|
rs762605020
|
0.00001
|
NM_000051.4(ATM):c.363A>C (p.Leu121Phe)
|
rs774555120
|
0.00001
|
NM_000051.4(ATM):c.3645T>A (p.Asp1215Glu)
|
rs1364817146
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.366T>C (p.Asn122=)
|
rs1178025248
|
0.00001
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.3679A>G (p.Thr1227Ala)
|
rs1047871047
|
0.00001
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
NM_000051.4(ATM):c.3703C>T (p.Pro1235Ser)
|
rs779095853
|
0.00001
|
NM_000051.4(ATM):c.3720C>T (p.Asn1240=)
|
rs1478427829
|
0.00001
|
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=)
|
rs772331389
|
0.00001
|
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser)
|
rs730881363
|
0.00001
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
NM_000051.4(ATM):c.373A>G (p.Met125Val)
|
rs761137313
|
0.00001
|
NM_000051.4(ATM):c.3742T>G (p.Tyr1248Asp)
|
rs1180341161
|
0.00001
|
NM_000051.4(ATM):c.3746+12C>A
|
rs768841674
|
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.3756T>C (p.Tyr1252=)
|
rs886039637
|
0.00001
|
NM_000051.4(ATM):c.3768T>G (p.Ile1256Met)
|
rs765538231
|
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.3820C>T (p.Gln1274Ter)
|
rs1453429915
|
0.00001
|
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe)
|
rs2082378278
|
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.3918T>C (p.Ser1306=)
|
rs139632347
|
0.00001
|
NM_000051.4(ATM):c.3921G>A (p.Gly1307=)
|
rs969461745
|
0.00001
|
NM_000051.4(ATM):c.3951G>A (p.Lys1317=)
|
rs1485996895
|
0.00001
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)
|
rs144535256
|
0.00001
|
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro)
|
rs786203306
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg)
|
rs876658669
|
0.00001
|
NM_000051.4(ATM):c.3993+3A>G
|
rs771789242
|
0.00001
|
NM_000051.4(ATM):c.3994-159A>G
|
rs864622543
|
0.00001
|
NM_000051.4(ATM):c.3994-50C>T
|
rs753142634
|
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.4001A>G (p.His1334Arg)
|
rs780865776
|
0.00001
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn)
|
rs1060501660
|
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.4023A>T (p.Pro1341=)
|
rs1020202983
|
0.00001
|
NM_000051.4(ATM):c.4032G>C (p.Val1344=)
|
rs769871715
|
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.4072A>G (p.Ser1358Gly)
|
rs1176020475
|
0.00001
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
NM_000051.4(ATM):c.4101C>T (p.Asp1367=)
|
rs587780623
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4109+10T>C
|
rs1236628481
|
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.4110-4T>C
|
rs777186156
|
0.00001
|
NM_000051.4(ATM):c.4110-9C>A
|
rs730881367
|
0.00001
|
NM_000051.4(ATM):c.4114T>C (p.Leu1372=)
|
rs762242838
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser)
|
rs749215545
|
0.00001
|
NM_000051.4(ATM):c.412G>A (p.Gly138Arg)
|
rs150661813
|
0.00001
|
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser)
|
rs1555096828
|
0.00001
|
NM_000051.4(ATM):c.4144C>T (p.Pro1382Ser)
|
rs55859590
|
0.00001
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
NM_000051.4(ATM):c.4151A>G (p.His1384Arg)
|
rs757172522
|
0.00001
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
NM_000051.4(ATM):c.4179C>G (p.Ile1393Met)
|
rs775688446
|
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.4210A>G (p.Ile1404Val)
|
rs786201832
|
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.4236+12T>C
|
rs369996463
|
0.00001
|
NM_000051.4(ATM):c.4236+8T>C
|
rs765636697
|
0.00001
|
NM_000051.4(ATM):c.4237-13G>A
|
rs778685615
|
0.00001
|
NM_000051.4(ATM):c.4237-18A>G
|
rs756842639
|
0.00001
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
NM_000051.4(ATM):c.42A>G (p.Gln14=)
|
rs771378101
|
0.00001
|
NM_000051.4(ATM):c.4305G>A (p.Lys1435=)
|
rs763567469
|
0.00001
|
NM_000051.4(ATM):c.4321A>C (p.Ile1441Leu)
|
rs774886013
|
0.00001
|
NM_000051.4(ATM):c.432A>G (p.Ile144Met)
|
rs772173522
|
0.00001
|
NM_000051.4(ATM):c.433C>T (p.Leu145=)
|
rs587782328
|
0.00001
|
NM_000051.4(ATM):c.4356T>C (p.Asp1452=)
|
rs1283294799
|
0.00001
|
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)
|
rs587782126
|
0.00001
|
NM_000051.4(ATM):c.4359A>T (p.Ile1453=)
|
rs1213190389
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4371A>C (p.Leu1457Phe)
|
rs765713557
|
0.00001
|
NM_000051.4(ATM):c.4398A>G (p.Arg1466=)
|
rs142728382
|
0.00001
|
NM_000051.4(ATM):c.439A>G (p.Lys147Glu)
|
rs587782509
|
0.00001
|
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)
|
rs876660356
|
0.00001
|
NM_000051.4(ATM):c.4417A>G (p.Ile1473Val)
|
rs1565456980
|
0.00001
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000051.4(ATM):c.4431C>A (p.Asn1477Lys)
|
rs571989748
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4437-12T>C
|
rs772888878
|
0.00001
|
NM_000051.4(ATM):c.4437-13dup
|
rs1555099701
|
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.4439C>T (p.Pro1480Leu)
|
rs200456625
|
0.00001
|
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe)
|
rs863224572
|
0.00001
|
NM_000051.4(ATM):c.4447A>G (p.Ile1483Val)
|
rs1281685502
|
0.00001
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
NM_000051.4(ATM):c.4467T>C (p.Arg1489=)
|
rs746296827
|
0.00001
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)
|
rs587781944
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.4500G>A (p.Gln1500=)
|
rs1345605814
|
0.00001
|
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile)
|
rs370574283
|
0.00001
|
NM_000051.4(ATM):c.450T>A (p.Leu150=)
|
rs1168425290
|
0.00001
|
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala)
|
rs767466937
|
0.00001
|
NM_000051.4(ATM):c.4515C>T (p.Ala1505=)
|
rs540798997
|
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.4529A>G (p.Lys1510Arg)
|
rs1208799683
|
0.00001
|
NM_000051.4(ATM):c.4546C>T (p.His1516Tyr)
|
rs1389372050
|
0.00001
|
NM_000051.4(ATM):c.4549C>T (p.Leu1517Phe)
|
rs754058482
|
0.00001
|
NM_000051.4(ATM):c.4551T>A (p.Leu1517=)
|
rs1459998980
|
0.00001
|
NM_000051.4(ATM):c.4553A>C (p.His1518Pro)
|
rs762132832
|
0.00001
|
NM_000051.4(ATM):c.4559T>C (p.Ile1520Thr)
|
rs375654664
|
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.456G>T (p.Val152=)
|
rs1555059433
|
0.00001
|
NM_000051.4(ATM):c.4574T>C (p.Ile1525Thr)
|
rs755274980
|
0.00001
|
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr)
|
rs748898098
|
0.00001
|
NM_000051.4(ATM):c.4577C>A (p.Pro1526His)
|
rs770590652
|
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.4618G>T (p.Asp1540Tyr)
|
rs778622948
|
0.00001
|
NM_000051.4(ATM):c.4629A>G (p.Lys1543=)
|
rs745565564
|
0.00001
|
NM_000051.4(ATM):c.4630T>C (p.Tyr1544His)
|
rs771554153
|
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.4640T>C (p.Ile1547Thr)
|
rs1555100432
|
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.4668T>G (p.Tyr1556Ter)
|
rs766438805
|
0.00001
|
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)
|
rs759660081
|
0.00001
|
NM_000051.4(ATM):c.4678A>G (p.Lys1560Glu)
|
rs767981230
|
0.00001
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
NM_000051.4(ATM):c.4716G>C (p.Lys1572Asn)
|
rs786203953
|
0.00001
|
NM_000051.4(ATM):c.4734G>A (p.Gln1578=)
|
rs754579737
|
0.00001
|
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala)
|
rs786202473
|
0.00001
|
NM_000051.4(ATM):c.475A>G (p.Ile159Val)
|
rs1565357315
|
0.00001
|
NM_000051.4(ATM):c.4761C>T (p.Pro1587=)
|
rs769562370
|
0.00001
|
NM_000051.4(ATM):c.4770C>T (p.Leu1590=)
|
rs749475519
|
0.00001
|
NM_000051.4(ATM):c.4773G>C (p.Leu1591Phe)
|
rs1345760669
|
0.00001
|
NM_000051.4(ATM):c.4776+15A>C
|
rs759607134
|
0.00001
|
NM_000051.4(ATM):c.4777-15C>T
|
rs1057521023
|
0.00001
|
NM_000051.4(ATM):c.4777-27A>G
|
rs766101886
|
0.00001
|
NM_000051.4(ATM):c.4777-3T>C
|
rs1468242174
|
0.00001
|
NM_000051.4(ATM):c.4777-4T>C
|
rs756025941
|
0.00001
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr)
|
rs777812804
|
0.00001
|
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.4816C>G (p.Leu1606Val)
|
rs746103632
|
0.00001
|
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)
|
rs786203559
|
0.00001
|
NM_000051.4(ATM):c.4822T>C (p.Leu1608=)
|
rs775464644
|
0.00001
|
NM_000051.4(ATM):c.4826C>G (p.Thr1609Arg)
|
rs1316363133
|
0.00001
|
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr)
|
rs2083038225
|
0.00001
|
NM_000051.4(ATM):c.4849C>G (p.Leu1617Val)
|
rs1006483748
|
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.4881G>T (p.Gln1627His)
|
rs1374689246
|
0.00001
|
NM_000051.4(ATM):c.488A>G (p.Gln163Arg)
|
rs876660598
|
0.00001
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
NM_000051.4(ATM):c.4909+1G>A
|
rs756987454
|
0.00001
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
NM_000051.4(ATM):c.4909+4C>T
|
rs587782125
|
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.4910-5T>C
|
rs1309478967
|
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.4947C>T (p.Val1649=)
|
rs1436324961
|
0.00001
|
NM_000051.4(ATM):c.496+16T>G
|
rs776924718
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro)
|
rs1376280581
|
0.00001
|
NM_000051.4(ATM):c.497-14T>A
|
rs757147178
|
0.00001
|
NM_000051.4(ATM):c.497-14_497-13insC
|
rs776788385
|
0.00001
|
NM_000051.4(ATM):c.497-1G>A
|
rs778624615
|
0.00001
|
NM_000051.4(ATM):c.497-4T>A
|
rs876659621
|
0.00001
|
NM_000051.4(ATM):c.4972G>A (p.Ala1658Thr)
|
rs372679141
|
0.00001
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)
|
rs1457261046
|
0.00001
|
NM_000051.4(ATM):c.5005+13C>T
|
rs1192513529
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5005+9C>T
|
rs730881291
|
0.00001
|
NM_000051.4(ATM):c.5006-3T>C
|
rs761297488
|
0.00001
|
NM_000051.4(ATM):c.5014G>A (p.Gly1672Arg)
|
rs1330898827
|
0.00001
|
NM_000051.4(ATM):c.5032G>A (p.Val1678Met)
|
rs1299754311
|
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.5055C>T (p.Thr1685=)
|
rs587780551
|
0.00001
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
NM_000051.4(ATM):c.5057T>C (p.Ile1686Thr)
|
rs878853517
|
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.5079T>C (p.Asp1693=)
|
rs753036834
|
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.5132C>G (p.Thr1711Ser)
|
rs1291016764
|
0.00001
|
NM_000051.4(ATM):c.5136C>T (p.Phe1712=)
|
rs786203371
|
0.00001
|
NM_000051.4(ATM):c.5138T>C (p.Ile1713Thr)
|
rs1199544303
|
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.5164C>T (p.Leu1722=)
|
rs1255639252
|
0.00001
|
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly)
|
rs770882126
|
0.00001
|
NM_000051.4(ATM):c.5177+3G>A
|
rs774216164
|
0.00001
|
NM_000051.4(ATM):c.5178-10T>A
|
rs1565476613
|
0.00001
|
NM_000051.4(ATM):c.5178T>G (p.Cys1726Trp)
|
rs1446243372
|
0.00001
|
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg)
|
rs1060501613
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5195C>G (p.Ala1732Gly)
|
rs1565476801
|
0.00001
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
NM_000051.4(ATM):c.5218A>G (p.Ile1740Val)
|
rs1358200819
|
0.00001
|
NM_000051.4(ATM):c.5220T>A (p.Ile1740=)
|
rs1452225772
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.522C>G (p.Leu174=)
|
rs780173724
|
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.526C>G (p.Leu176Val)
|
rs375798802
|
0.00001
|
NM_000051.4(ATM):c.5271A>G (p.Thr1757=)
|
rs1555105759
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)
|
rs2083444895
|
0.00001
|
NM_000051.4(ATM):c.5310A>G (p.Ser1770=)
|
rs1060504282
|
0.00001
|
NM_000051.4(ATM):c.5319+20T>C
|
rs775616416
|
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.5319+7T>A
|
rs925428128
|
0.00001
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
NM_000051.4(ATM):c.5320-4C>G
|
rs1316146972
|
0.00001
|
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)
|
rs768820804
|
0.00001
|
NM_000051.4(ATM):c.5324T>C (p.Leu1775Ser)
|
rs1256064321
|
0.00001
|
NM_000051.4(ATM):c.5335A>G (p.Arg1779Gly)
|
rs1176642734
|
0.00001
|
NM_000051.4(ATM):c.5345A>G (p.Lys1782Arg)
|
rs878853520
|
0.00001
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
NM_000051.4(ATM):c.5355T>G (p.Pro1785=)
|
rs1025083720
|
0.00001
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
NM_000051.4(ATM):c.5382G>A (p.Leu1794=)
|
rs188362115
|
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.5435C>T (p.Ala1812Val)
|
rs199885813
|
0.00001
|
NM_000051.4(ATM):c.5443G>A (p.Asp1815Asn)
|
rs933604666
|
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.5471T>G (p.Leu1824Arg)
|
rs1565479465
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5497-10T>C
|
rs1457831101
|
0.00001
|
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala)
|
rs1034908940
|
0.00001
|
NM_000051.4(ATM):c.5524C>A (p.Leu1842Ile)
|
rs956546711
|
0.00001
|
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe)
|
rs956546711
|
0.00001
|
NM_000051.4(ATM):c.5536A>G (p.Ile1846Val)
|
rs587779849
|
0.00001
|
NM_000051.4(ATM):c.5544T>C (p.Asp1848=)
|
rs146568734
|
0.00001
|
NM_000051.4(ATM):c.554T>C (p.Val185Ala)
|
rs730881335
|
0.00001
|
NM_000051.4(ATM):c.5553C>G (p.Leu1851=)
|
rs786201126
|
0.00001
|
NM_000051.4(ATM):c.5556A>G (p.Gln1852=)
|
rs1555107364
|
0.00001
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
0.00001
|
NM_000051.4(ATM):c.5595T>C (p.His1865=)
|
rs772261410
|
0.00001
|
NM_000051.4(ATM):c.5613C>T (p.Thr1871=)
|
rs2083601650
|
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.5635C>A (p.Gln1879Lys)
|
rs756109905
|
0.00001
|
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)
|
rs587780628
|
0.00001
|
NM_000051.4(ATM):c.5640G>A (p.Thr1880=)
|
rs757103582
|
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.5661A>G (p.Ala1887=)
|
rs876658939
|
0.00001
|
NM_000051.4(ATM):c.566G>C (p.Arg189Thr)
|
rs79075295
|
0.00001
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
NM_000051.4(ATM):c.5675-10T>G
|
rs377599533
|
0.00001
|
NM_000051.4(ATM):c.5685C>A (p.His1895Gln)
|
rs889445709
|
0.00001
|
NM_000051.4(ATM):c.5688T>C (p.Phe1896=)
|
rs2083815927
|
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.573T>A (p.Ile191=)
|
rs775003417
|
0.00001
|
NM_000051.4(ATM):c.5746A>G (p.Met1916Val)
|
rs910274159
|
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.5762+19C>T
|
rs1170960696
|
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.662+20T>A
|
rs1222553728
|
0.00001
|
NM_000051.4(ATM):c.663-19C>G
|
rs1044060944
|
0.00001
|
NM_000051.4(ATM):c.663-8C>A
|
rs1060501661
|
0.00001
|
NM_000051.4(ATM):c.672G>T (p.Lys224Asn)
|
rs769731317
|
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.709A>G (p.Thr237Ala)
|
rs376529329
|
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.718C>T (p.Leu240Phe)
|
rs1210038351
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.722A>G (p.Lys241Arg)
|
rs1021907990
|
0.00001
|
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)
|
rs786202096
|
0.00001
|
NM_000051.4(ATM):c.73-14C>G
|
rs766284348
|
0.00001
|
NM_000051.4(ATM):c.73-15C>A
|
rs1216989217
|
0.00001
|
NM_000051.4(ATM):c.738C>G (p.Asn246Lys)
|
rs1335108218
|
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.754T>A (p.Cys252Ser)
|
rs863224580
|
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.787C>T (p.Leu263Phe)
|
rs876659531
|
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.804A>G (p.Gln268=)
|
rs2079766818
|
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.834C>T (p.Val278=)
|
rs2079769316
|
0.00001
|
NM_000051.4(ATM):c.839T>C (p.Ile280Thr)
|
rs587782080
|
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.887A>C (p.Lys296Thr)
|
rs1064795297
|
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.902-22A>C
|
rs766650801
|
0.00001
|
NM_000051.4(ATM):c.902-4A>G
|
rs1416161750
|
0.00001
|
NM_000051.4(ATM):c.912A>G (p.Glu304=)
|
rs1286754263
|
0.00001
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
NM_000051.4(ATM):c.947A>G (p.Tyr316Cys)
|
rs1340280916
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000051.4(ATM):c.958G>A (p.Val320Met)
|
rs1060501655
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000051.4(ATM):c.976A>T (p.Ile326Leu)
|
rs1555068422
|
0.00001
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
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_000051.4(ATM):c.996T>C (p.Tyr332=)
|
rs1476261420
|
0.00001
|
GRCh37/hg19 11q22.3(chr11:108188097-108188249)x0
|
|
|
GRCh37/hg19 11q22.3(chr11:108233807-108245056)x1
|
|
|
GRCh37/hg19 11q22.3(chr11:108235806-108236235)x1
|
|
|
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1
|
|
|
NC_000011.10:g.(108286180_108289631)del
|
|
|
NC_000011.10:g.(?_108223043)_(108249112_?)del
|
|
|
NC_000011.10:g.(?_108227615)_(108229333_?)del
|
|
|
NC_000011.10:g.(?_108227615)_(108259085_?)dup
|
|
|
NC_000011.10:g.(?_108227619)_(108227894_?)del
|
|
|
NC_000011.10:g.(?_108227625)_(108245036_?)del
|
|
|
NC_000011.10:g.(?_108227625)_(108365508_?)del
|
|
|
NC_000011.10:g.(?_108235660)_(108284483_?)del
|
|
|
NC_000011.10:g.(?_108235664)_(108235840_?)del
|
|
|
NC_000011.10:g.(?_108243943)_(108249112_?)del
|
|
|
NC_000011.10:g.(?_108244778)_(108365518_?)dup
|
|
|
NC_000011.10:g.(?_108246954)_(108247137_?)del
|
|
|
NC_000011.10:g.(?_108246954)_(108289811_?)dup
|
|
|
NC_000011.10:g.(?_108248923)_(108249112_?)del
|
|
|
NC_000011.10:g.(?_108248923)_(108272862_?)del
|
|
|
NC_000011.10:g.(?_108250691)_(108254049_?)del
|
|
|
NC_000011.10:g.(?_108250691)_(108257616_?)del
|
|
|
NC_000011.10:g.(?_108256205)_(108365508_?)dup
|
|
|
NC_000011.10:g.(?_108257471)_(108259085_?)del
|
|
|
NC_000011.10:g.(?_108258976)_(108335971_?)dup
|
|
|
NC_000011.10:g.(?_108267161)_(108268619_?)del
|
|
|
NC_000011.10:g.(?_108267161)_(108307994_?)del
|
|
|
NC_000011.10:g.(?_108272522)_(108282889_?)dup
|
|
|
NC_000011.10:g.(?_108279481)_(108281178_?)del
|
|
|
NC_000011.10:g.(?_108280985)_(108287725_?)del
|
|
|
NC_000011.10:g.(?_108280995)_(108289801_?)del
|
|
|
NC_000011.10:g.(?_108282700)_(108287725_?)del
|
|
|
NC_000011.10:g.(?_108284217)_(108284483_?)dup
|
|
|
NC_000011.10:g.(?_108289582)_(108289821_?)del
|
|
|
NC_000011.10:g.(?_108289592)_(108289811_?)del
|
|
|
NC_000011.10:g.(?_108289602)_(108289801_?)del
|
|
|
NC_000011.10:g.(?_108292609)_(108293487_?)del
|
|
|
NC_000011.10:g.(?_108292619)_(108299885_?)del
|
|
|
NC_000011.10:g.(?_108294917)_(108295069_?)dup
|
|
|
NC_000011.10:g.(?_108297277)_(108297392_?)dup
|
|
|
NC_000011.10:g.(?_108299704)_(108304862_?)del
|
|
|
NC_000011.10:g.(?_108307887)_(108365508_?)del
|
|
|
NC_000011.10:g.(?_108325300)_(108347375_?)del
|
|
|
NC_000011.10:g.(?_108325300)_(108365508_?)del
|
|
|
NC_000011.10:g.(?_108331434)_(108335971_?)dup
|
|
|
NC_000011.10:g.(?_108332752)_(108354884_?)dup
|
|
|
NC_000011.10:g.(?_108335835)_(108365508_?)dup
|
|
|
NC_000011.10:g.(?_108335835)_(108365518_?)dup
|
|
|
NC_000011.10:g.(?_108343212)_(108354884_?)dup
|
|
|
NC_000011.10:g.(?_108353756)_(108354884_?)del
|
|
|
NC_000011.10:g.(?_108365010)_(108365542_?)del
|
|
|
NC_000011.10:g.(?_108365072)_(108365508_?)del
|
|
|
NC_000011.10:g.108222768C>T
|
rs1056339095
|
|
NC_000011.10:g.108246997_108246998insAlu
|
|
|
NC_000011.10:g.108271077_108271078insTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATCTAATGCTTTT
|
rs2135547194
|
|
NC_000011.10:g.108272532del
|
rs2135564943
|
|
NC_000011.9:g.(108114846_108115514)_(108239827_?)dup
|
|
|
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
|
|
|
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
|
|
|
NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
|
|
|
NC_000011.9:g.(108225602_108235808)_(108236198_?)dup
|
|
|
NC_000011.9:g.(108225602_108235808)_(108239827_?)del
|
|
|
NC_000011.9:g.(108225602_108235808)_(108239827_?)dup
|
|
|
NC_000011.9:g.(?_107992314)_108236255del
|
|
|
NC_000011.9:g.(?_108093770)_(108098625_?)del
|
|
|
NC_000011.9:g.(?_108093770)_(108100060_?)del
|
|
|
NC_000011.9:g.(?_108093770)_(108114855_?)del
|
|
|
NC_000011.9:g.(?_108093770)_(108164214_?)del
|
|
|
NC_000011.9:g.(?_108093770)_108128343del
|
|
|
NC_000011.9:g.(?_108098171)_(108124564_?)del
|
|
|
NC_000011.9:g.(?_108098342)_(108098625_?)del
|
|
|
NC_000011.9:g.(?_108098342)_(108158452_?)dup
|
|
|
NC_000011.9:g.(?_108098346)_(108138075_?)del
|
|
|
NC_000011.9:g.(?_108098346)_(108236241_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108098615_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108098625_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108100060_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108106571_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108117864_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108124786_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108128343_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108129822_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108164214_?)del
|
|
|
NC_000011.9:g.(?_108098352)_(108216655_?)dup
|
|
|
NC_000011.9:g.(?_108098352)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108099885)_(108225621_?)del
|
|
|
NC_000011.9:g.(?_108099886)_(108143599_?)del
|
|
|
NC_000011.9:g.(?_108099895)_(108119839_?)dup
|
|
|
NC_000011.9:g.(?_108101030)_(108121474_?)del
|
|
|
NC_000011.9:g.(?_108106377)_(108143599_?)dup
|
|
|
NC_000011.9:g.(?_108106377)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108106387)_(108106571_?)del
|
|
|
NC_000011.9:g.(?_108106387)_(108119839_?)dup
|
|
|
NC_000011.9:g.(?_108106387)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108111148)_(108117795_?)del
|
|
|
NC_000011.9:g.(?_108114117)_(108115618_?)del
|
|
|
NC_000011.9:g.(?_108114660)_(108181062_?)del
|
|
|
NC_000011.9:g.(?_108114660)_(108236235_?)del
|
|
|
NC_000011.9:g.(?_108114662)_(108114855_?)del
|
|
|
NC_000011.9:g.(?_108114662)_(108115763_?)del
|
|
|
NC_000011.9:g.(?_108114670)_(108164214_?)del
|
|
|
NC_000011.9:g.(?_108114670)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108115586)_(108118919_?)del
|
|
|
NC_000011.9:g.(?_108117671)_(108160548_?)dup
|
|
|
NC_000011.9:g.(?_108124463)_(108126942_?)del
|
|
|
NC_000011.9:g.(?_108124486)_(108225611_?)del
|
|
|
NC_000011.9:g.(?_108126932)_(108129812_?)del
|
|
|
NC_000011.9:g.(?_108126936)_(108129808_?)dup
|
|
|
NC_000011.9:g.(?_108137888)_(108155210_?)del
|
|
|
NC_000011.9:g.(?_108141210)_(108143589_?)del
|
|
|
NC_000011.9:g.(?_108141781)_(108158452_?)del
|
|
|
NC_000011.9:g.(?_108143253)_(108153612_?)dup
|
|
|
NC_000011.9:g.(?_108150208)_(108225611_?)dup
|
|
|
NC_000011.9:g.(?_108150212)_(108216641_?)del
|
|
|
NC_000011.9:g.(?_108150557)_(108153493_?)del
|
|
|
NC_000011.9:g.(?_108151710)_(108160538_?)del
|
|
|
NC_000011.9:g.(?_108151710)_(108192157_?)dup
|
|
|
NC_000011.9:g.(?_108153427)_(108160538_?)del
|
|
|
NC_000011.9:g.(?_108153427)_(108236235_?)del
|
|
|
NC_000011.9:g.(?_108154944)_(108155210_?)del
|
|
|
NC_000011.9:g.(?_108155171)_(108204924_?)del
|
|
|
NC_000011.9:g.(?_108156908)_(108160358_?)del
|
|
|
NC_000011.9:g.(?_108156908)_108160358del
|
|
|
NC_000011.9:g.(?_108158168)_(108160538_?)del
|
|
|
NC_000011.9:g.(?_108159694)_(108160538_?)del
|
|
|
NC_000011.9:g.(?_108163336)_(108165796_?)del
|
|
|
NC_000011.9:g.(?_108163336)_(108170622_?)del
|
|
|
NC_000011.9:g.(?_108163340)_(108170618_?)del
|
|
|
NC_000011.9:g.(?_108164020)_(108236235_?)del
|
|
|
NC_000011.9:g.(?_108168008)_(108206694_?)del
|
|
|
NC_000011.9:g.(?_108170431)_(108170622_?)del
|
|
|
NC_000011.9:g.(?_108170431)_(108206698_?)del
|
|
|
NC_000011.9:g.(?_108170929)_(108196046_?)del
|
|
|
NC_000011.9:g.(?_108172365)_(108175589_?)del
|
|
|
NC_000011.9:g.(?_108172365)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108173570)_(108175589_?)del
|
|
|
NC_000011.9:g.(?_108178614)_(108178721_?)del
|
|
|
NC_000011.9:g.(?_108178614)_(108183235_?)dup
|
|
|
NC_000011.9:g.(?_108178614)_(108188258_?)del
|
|
|
NC_000011.9:g.(?_108178618)_(108236241_?)del
|
|
|
NC_000011.9:g.(?_108180877)_(108181052_?)del
|
|
|
NC_000011.9:g.(?_108183089)_(108186850_?)del
|
|
|
NC_000011.9:g.(?_108183089)_(108225611_?)dup
|
|
|
NC_000011.9:g.(?_108186540)_(108188258_?)del
|
|
|
NC_000011.9:g.(?_108186540)_(108196962_?)del
|
|
|
NC_000011.9:g.(?_108186540)_(108218102_?)del
|
|
|
NC_000011.9:g.(?_108190671)_(108190795_?)dup
|
|
|
NC_000011.9:g.(?_108190671)_(108225611_?)del
|
|
|
NC_000011.9:g.(?_108190675)_(108190791_?)del
|
|
|
NC_000011.9:g.(?_108196027)_(108196281_?)del
|
|
|
NC_000011.9:g.(?_108196027)_(108199975_?)del
|
|
|
NC_000011.9:g.(?_108200931)_(108236235_?)del
|
|
|
NC_000011.9:g.(?_108204603)_(108204705_?)del
|
|
|
NC_000011.9:g.(?_108205686)_(108236245_?)dup
|
|
|
NC_000011.9:g.(?_108206566)_(108206694_?)del
|
|
|
NC_000011.9:g.(?_108213939)_(108218102_?)del
|
|
|
NC_000011.9:g.(?_108213939)_(108225611_?)del
|
|
|
NC_000011.9:g.(?_108213939)_(108236235_?)del
|
|
|
NC_000011.9:g.(?_108213939)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108215207)_(108216339_?)del
|
|
|
NC_000011.9:g.(?_108217996)_(108218102_?)del
|
|
|
NC_000011.9:g.(?_108225592)_(108229424_?)del
|
|
|
NC_000011.9:g.(?_108235789)_(108236235_?)dup
|
|
|
NC_000011.9:g.(?_108235810)_108237715del
|
|
|
NC_000011.9:g.108105163_108155884del
|
|
|
NC_000011.9:g.108108886_108205398del
|
|
|
NC_000011.9:g.108163403_108163404insLINE
|
|
|
NM_000051.3(ATM):c.-222T>A
|
rs557953523
|
|
NM_000051.3(ATM):c.-235delC
|
rs886047607
|
|
NM_000051.3(ATM):c.-241G>C
|
rs1800065
|
|
NM_000051.3(ATM):c.-30_-27delACAG
|
|
|
NM_000051.3(ATM):c.-327T>C
|
rs557572386
|
|
NM_000051.3(ATM):c.-328A>T
|
rs4987880
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.3(ATM):c.2839-?_4109+?del
|
|
|
NM_000051.3(ATM):c.3245_3247delinsTGAT
|
|
|
NM_000051.3(ATM):c.332_334delGAG
|
rs1060501621
|
|
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs)
|
rs1555092425
|
|
NM_000051.3(ATM):c.4493_4494insLINE1
|
|
|
NM_000051.3(ATM):c.8269-?_8671+?del
|
|
|
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
|
|
|
NM_000051.3:c.2839-3insALU
|
|
|
NM_000051.3:c.2839-4_2839-3insL1
|
|
|
NM_000051.3:c.3167_3168insALU
|
|
|
NM_000051.3:c.3577-39_3577-38insALU
|
|
|
NM_000051.3:c.435_436insALU
|
|
|
NM_000051.3:c.4479_4480insL1
|
|
|
NM_000051.3:c.475G>A
|
|
|
NM_000051.3:c.5770_5771insALU
|
|
|
NM_000051.3:c.5889_5890insALU
|
|
|
NM_000051.3:c.7374_7375insAlu
|
|
|
NM_000051.3:c.8010+30_8010+31insL1
|
|
|
NM_000051.3:c.8010+30insALU
|
|
|
NM_000051.3:c.8844_8845insLINE1
|
|
|
NM_000051.3:c.919_920insALU
|
|
|
NM_000051.4(ATM):c.-15C>T
|
rs1204830852
|
|
NM_000051.4(ATM):c.-18G>C
|
rs374303671
|
|
NM_000051.4(ATM):c.-1C>T
|
rs2078804456
|
|
NM_000051.4(ATM):c.-25G>T
|
rs1422476659
|
|
NM_000051.4(ATM):c.-27G>T
|
rs1057522375
|
|
NM_000051.4(ATM):c.-2C>T
|
rs755213267
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.-30-5dup
|
rs745673370
|
|
NM_000051.4(ATM):c.-31+1135C>T
|
rs869312481
|
|
NM_000051.4(ATM):c.-31+238G>A
|
|
|
NM_000051.4(ATM):c.-31+595G>A
|
rs1555051574
|
|
NM_000051.4(ATM):c.-31+6G>T
|
rs1555051184
|
|
NM_000051.4(ATM):c.-31+6_-31+7insTGT
|
rs2134938521
|
|
NM_000051.4(ATM):c.-32_-31dup
|
rs876661223
|
|
NM_000051.4(ATM):c.-34A>G
|
rs563999137
|
|
NM_000051.4(ATM):c.-3A>G
|
rs1591445631
|
|
NM_000051.4(ATM):c.-42C>T
|
rs1057523482
|
|
NM_000051.4(ATM):c.-47A>G
|
rs1057523231
|
|
NM_000051.4(ATM):c.-5G>A
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu)
|
rs1440510829
|
|
NM_000051.4(ATM):c.1004G>T (p.Gly335Val)
|
|
|
NM_000051.4(ATM):c.1005A>G (p.Gly335=)
|
rs1555068481
|
|
NM_000051.4(ATM):c.1006T>C (p.Phe336Leu)
|
rs1555068485
|
|
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys)
|
rs1018587967
|
|
NM_000051.4(ATM):c.1008T>C (p.Phe336=)
|
rs1555068492
|
|
NM_000051.4(ATM):c.1008T>G (p.Phe336Leu)
|
rs1555068492
|
|
NM_000051.4(ATM):c.1008del (p.Arg337fs)
|
rs2079886452
|
|
NM_000051.4(ATM):c.1009C>A (p.Arg337Ser)
|
rs138398778
|
|
NM_000051.4(ATM):c.100A>G (p.Ile34Val)
|
rs1555054094
|
|
NM_000051.4(ATM):c.100A>T (p.Ile34Phe)
|
rs1555054094
|
|
NM_000051.4(ATM):c.1010G>C (p.Arg337Pro)
|
|
|
NM_000051.4(ATM):c.1010G>T (p.Arg337Leu)
|
rs202160435
|
|
NM_000051.4(ATM):c.1012A>C (p.Asn338His)
|
rs751800302
|
|
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp)
|
rs751800302
|
|
NM_000051.4(ATM):c.1013A>G (p.Asn338Ser)
|
|
|
NM_000051.4(ATM):c.1014T>A (p.Asn338Lys)
|
|
|
NM_000051.4(ATM):c.1014T>C (p.Asn338=)
|
rs1555068510
|
|
NM_000051.4(ATM):c.1015A>G (p.Ile339Val)
|
rs876659567
|
|
NM_000051.4(ATM):c.1016T>C (p.Ile339Thr)
|
rs2079887536
|
|
NM_000051.4(ATM):c.1017T>G (p.Ile339Met)
|
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
NM_000051.4(ATM):c.1018G>A (p.Ala340Thr)
|
|
|
NM_000051.4(ATM):c.1018G>T (p.Ala340Ser)
|
|
|
NM_000051.4(ATM):c.1019C>A (p.Ala340Asp)
|
rs730881387
|
|
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly)
|
rs730881387
|
|
NM_000051.4(ATM):c.1019C>T (p.Ala340Val)
|
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.1025A>G (p.Lys342Arg)
|
rs1064794119
|
|
NM_000051.4(ATM):c.1027G>A (p.Glu343Lys)
|
rs2135268427
|
|
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.102T>A (p.Ile34=)
|
rs2135011891
|
|
NM_000051.4(ATM):c.1030A>G (p.Asn344Asp)
|
|
|
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr)
|
rs587782526
|
|
NM_000051.4(ATM):c.1032T>C (p.Asn344=)
|
|
|
NM_000051.4(ATM):c.1034T>C (p.Leu345Ser)
|
|
|
NM_000051.4(ATM):c.1035G>A (p.Leu345=)
|
rs2135268584
|
|
NM_000051.4(ATM):c.1036A>G (p.Ile346Val)
|
rs1565375699
|
|
NM_000051.4(ATM):c.1036del (p.Ile346fs)
|
rs1565375710
|
|
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn)
|
rs1060501526
|
|
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)
|
rs2135268548
|
|
NM_000051.4(ATM):c.1038T>G (p.Ile346Met)
|
rs749950833
|
|
NM_000051.4(ATM):c.1039G>C (p.Glu347Gln)
|
rs529202615
|
|
NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)
|
|
|
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu)
|
rs1555068567
|
|
NM_000051.4(ATM):c.103C>G (p.Arg35Gly)
|
rs55861249
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1041A>C (p.Glu347Asp)
|
|
|
NM_000051.4(ATM):c.1041A>G (p.Glu347=)
|
rs2135268758
|
|
NM_000051.4(ATM):c.1041A>T (p.Glu347Asp)
|
|
|
NM_000051.4(ATM):c.1042T>C (p.Leu348=)
|
rs746733866
|
|
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser)
|
rs2079890107
|
|
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.1044_1045del (p.Leu348fs)
|
rs2079890365
|
|
NM_000051.4(ATM):c.1045A>G (p.Met349Val)
|
|
|
NM_000051.4(ATM):c.1045A>T (p.Met349Leu)
|
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1046T>C (p.Met349Thr)
|
rs1555068577
|
|
NM_000051.4(ATM):c.1046T>G (p.Met349Arg)
|
rs1555068577
|
|
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr)
|
rs371713984
|
|
NM_000051.4(ATM):c.104G>T (p.Arg35Leu)
|
|
|
NM_000051.4(ATM):c.1050A>C (p.Ala350=)
|
rs1591511442
|
|
NM_000051.4(ATM):c.1050A>G (p.Ala350=)
|
rs1591511442
|
|
NM_000051.4(ATM):c.1051G>C (p.Asp351His)
|
rs876659092
|
|
NM_000051.4(ATM):c.1052A>C (p.Asp351Ala)
|
|
|
NM_000051.4(ATM):c.1052A>G (p.Asp351Gly)
|
rs1057521618
|
|
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)
|
rs1057521618
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1054_1055del (p.Ile352fs)
|
|
|
NM_000051.4(ATM):c.1055T>A (p.Ile352Asn)
|
|
|
NM_000051.4(ATM):c.1056C>A (p.Ile352=)
|
|
|
NM_000051.4(ATM):c.1056C>G (p.Ile352Met)
|
rs1555068605
|
|
NM_000051.4(ATM):c.1056C>T (p.Ile352=)
|
rs1555068605
|
|
NM_000051.4(ATM):c.1056_1057del (p.Ile352fs)
|
rs1591511511
|
|
NM_000051.4(ATM):c.1057T>C (p.Cys353Arg)
|
rs2135269388
|
|
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr)
|
rs1591511538
|
|
NM_000051.4(ATM):c.1058G>C (p.Cys353Ser)
|
|
|
NM_000051.4(ATM):c.1058G>T (p.Cys353Phe)
|
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
NM_000051.4(ATM):c.1059T>C (p.Cys353=)
|
|
|
NM_000051.4(ATM):c.105A>C (p.Arg35=)
|
rs1060504270
|
|
NM_000051.4(ATM):c.105A>G (p.Arg35=)
|
|
|
NM_000051.4(ATM):c.1060C>T (p.His354Tyr)
|
rs2079892237
|
|
NM_000051.4(ATM):c.1062C>T (p.His354=)
|
rs773365379
|
|
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)
|
rs1555068615
|
|
NM_000051.4(ATM):c.1064A>G (p.Gln355Arg)
|
rs2079892563
|
|
NM_000051.4(ATM):c.1065+10G>A
|
rs1591511658
|
|
NM_000051.4(ATM):c.1065+11T>C
|
|
|
NM_000051.4(ATM):c.1065+13G>A
|
rs2135270116
|
|
NM_000051.4(ATM):c.1065+13G>C
|
|
|
NM_000051.4(ATM):c.1065+14G>A
|
rs2135270151
|
|
NM_000051.4(ATM):c.1065+17A>G
|
rs373230921
|
|
NM_000051.4(ATM):c.1065+18T>C
|
|
|
NM_000051.4(ATM):c.1065+19G>A
|
|
|
NM_000051.4(ATM):c.1065+1G>A
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>C
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+20T>C
|
|
|
NM_000051.4(ATM):c.1065+2T>C
|
|
|
NM_000051.4(ATM):c.1065+3A>G
|
rs1282724169
|
|
NM_000051.4(ATM):c.1065+4C>T
|
rs1591511595
|
|
NM_000051.4(ATM):c.1065+4del
|
rs2135269839
|
|
NM_000051.4(ATM):c.1065+5A>C
|
rs1204741025
|
|
NM_000051.4(ATM):c.1065+5A>G
|
rs1204741025
|
|
NM_000051.4(ATM):c.1065+5A>T
|
rs1204741025
|
|
NM_000051.4(ATM):c.1065+8A>C
|
rs2135270000
|
|
NM_000051.4(ATM):c.1065+9A>G
|
|
|
NM_000051.4(ATM):c.1065+9_1065+12del
|
rs1486083030
|
|
NM_000051.4(ATM):c.1065+9del
|
|
|
NM_000051.4(ATM):c.1065G>A (p.Gln355=)
|
|
|
NM_000051.4(ATM):c.1066-10T>C
|
rs2135289561
|
|
NM_000051.4(ATM):c.1066-15A>G
|
rs771020891
|
|
NM_000051.4(ATM):c.1066-16T>C
|
|
|
NM_000051.4(ATM):c.1066-16_1066-10del
|
|
|
NM_000051.4(ATM):c.1066-19A>T
|
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-1G>T
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-1_1081del
|
rs2135289838
|
|
NM_000051.4(ATM):c.1066-20G>T
|
rs1565378678
|
|
NM_000051.4(ATM):c.1066-22T>G
|
rs778167931
|
|
NM_000051.4(ATM):c.1066-24A>G
|
|
|
NM_000051.4(ATM):c.1066-2A>C
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-2A>G
|
|
|
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.1066-32_1066-31del
|
|
|
NM_000051.4(ATM):c.1066-3C>G
|
rs1565378708
|
|
NM_000051.4(ATM):c.1066-3C>T
|
rs1565378708
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
NM_000051.4(ATM):c.1066-9A>G
|
rs774334532
|
|
NM_000051.4(ATM):c.1066G>A (p.Val356Ile)
|
rs2079987798
|
|
NM_000051.4(ATM):c.1067T>C (p.Val356Ala)
|
|
|
NM_000051.4(ATM):c.1068T>A (p.Val356=)
|
rs1462038794
|
|
NM_000051.4(ATM):c.1068T>C (p.Val356=)
|
rs1462038794
|
|
NM_000051.4(ATM):c.106_113del (p.Asp36fs)
|
|
|
NM_000051.4(ATM):c.1070T>C (p.Phe357Ser)
|
rs2135290032
|
|
NM_000051.4(ATM):c.1071T>C (p.Phe357=)
|
rs1057521608
|
|
NM_000051.4(ATM):c.1073A>C (p.Asn358Thr)
|
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
NM_000051.4(ATM):c.1074T>C (p.Asn358=)
|
rs2135290159
|
|
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys)
|
rs2079988487
|
|
NM_000051.4(ATM):c.1076A>G (p.Glu359Gly)
|
rs1555069537
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
NM_000051.4(ATM):c.1077A>G (p.Glu359=)
|
|
|
NM_000051.4(ATM):c.1078G>A (p.Asp360Asn)
|
rs1591517212
|
|
NM_000051.4(ATM):c.1078del (p.Asp360fs)
|
rs2135290302
|
|
NM_000051.4(ATM):c.1079A>C (p.Asp360Ala)
|
rs775767808
|
|
NM_000051.4(ATM):c.1079A>T (p.Asp360Val)
|
rs775767808
|
|
NM_000051.4(ATM):c.107A>C (p.Asp36Ala)
|
rs1488019755
|
|
NM_000051.4(ATM):c.107A>G (p.Asp36Gly)
|
rs1488019755
|
|
NM_000051.4(ATM):c.1080T>C (p.Asp360=)
|
rs199869975
|
|
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)
|
rs1565378803
|
|
NM_000051.4(ATM):c.1082C>G (p.Thr361Ser)
|
rs1565378803
|
|
NM_000051.4(ATM):c.1083C>T (p.Thr361=)
|
rs1555069552
|
|
NM_000051.4(ATM):c.1084A>C (p.Arg362=)
|
|
|
NM_000051.4(ATM):c.1084A>G (p.Arg362Gly)
|
rs1591517251
|
|
NM_000051.4(ATM):c.1086A>G (p.Arg362=)
|
rs142591268
|
|
NM_000051.4(ATM):c.1086A>T (p.Arg362Ser)
|
rs142591268
|
|
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)
|
rs1555069560
|
|
NM_000051.4(ATM):c.1089C>A (p.Ser363=)
|
|
|
NM_000051.4(ATM):c.1089C>G (p.Ser363=)
|
|
|
NM_000051.4(ATM):c.1089C>T (p.Ser363=)
|
rs1555069567
|
|
NM_000051.4(ATM):c.1089del (p.Leu364fs)
|
|
|
NM_000051.4(ATM):c.1090T>G (p.Leu364Val)
|
rs764821887
|
|
NM_000051.4(ATM):c.1091T>C (p.Leu364Ser)
|
rs1555069575
|
|
NM_000051.4(ATM):c.1092G>A (p.Leu364=)
|
|
|
NM_000051.4(ATM):c.1092_1235+363del
|
rs1591517314
|
|
NM_000051.4(ATM):c.1092_1235+363delinsCTT
|
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del)
|
rs878853481
|
|
NM_000051.4(ATM):c.1096A>G (p.Ile366Val)
|
rs879254198
|
|
NM_000051.4(ATM):c.1098T>C (p.Ile366=)
|
|
|
NM_000051.4(ATM):c.1098T>G (p.Ile366Met)
|
|
|
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro)
|
rs879254236
|
|
NM_000051.4(ATM):c.109C>G (p.Pro37Ala)
|
|
|
NM_000051.4(ATM):c.10G>T (p.Val4Leu)
|
rs1438588853
|
|
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr)
|
rs2079990831
|
|
NM_000051.4(ATM):c.1100C>T (p.Ser367Phe)
|
rs2079990831
|
|
NM_000051.4(ATM):c.1101T>A (p.Ser367=)
|
|
|
NM_000051.4(ATM):c.1101T>C (p.Ser367=)
|
|
|
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)
|
rs1565378912
|
|
NM_000051.4(ATM):c.1102_1107del (p.Gln368_Ser369del)
|
rs2079990728
|
|
NM_000051.4(ATM):c.1103A>G (p.Gln368Arg)
|
|
|
NM_000051.4(ATM):c.1104A>C (p.Gln368His)
|
rs560691658
|
|
NM_000051.4(ATM):c.1104A>T (p.Gln368His)
|
rs560691658
|
|
NM_000051.4(ATM):c.1105T>C (p.Ser369Pro)
|
|
|
NM_000051.4(ATM):c.1105_1121del (p.Ser369fs)
|
|
|
NM_000051.4(ATM):c.1106C>G (p.Ser369Cys)
|
rs762557654
|
|
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)
|
rs762557654
|
|
NM_000051.4(ATM):c.1107T>C (p.Ser369=)
|
|
|
NM_000051.4(ATM):c.1108dup (p.Tyr370fs)
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
NM_000051.4(ATM):c.110C>G (p.Pro37Arg)
|
rs1591446947
|
|
NM_000051.4(ATM):c.110C>T (p.Pro37Leu)
|
rs1591446947
|
|
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)
|
rs1591517456
|
|
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala)
|
rs1565378985
|
|
NM_000051.4(ATM):c.1111_1115del (p.Thr371fs)
|
|
|
NM_000051.4(ATM):c.1112C>G (p.Thr371Ser)
|
rs879254289
|
|
NM_000051.4(ATM):c.1113T>C (p.Thr371=)
|
rs1591517484
|
|
NM_000051.4(ATM):c.1114A>T (p.Thr372Ser)
|
|
|
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile)
|
rs765912563
|
|
NM_000051.4(ATM):c.1116T>C (p.Thr372=)
|
rs371985921
|
|
NM_000051.4(ATM):c.1116_1117delinsAC (p.Thr373Pro)
|
|
|
NM_000051.4(ATM):c.1117A>G (p.Thr373Ala)
|
rs751092163
|
|
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg)
|
rs876659275
|
|
NM_000051.4(ATM):c.1119A>C (p.Thr373=)
|
|
|
NM_000051.4(ATM):c.1119A>T (p.Thr373=)
|
rs754889105
|
|
NM_000051.4(ATM):c.1119dup (p.Gln374fs)
|
rs2079992934
|
|
NM_000051.4(ATM):c.111T>G (p.Pro37=)
|
|
|
NM_000051.4(ATM):c.1120C>G (p.Gln374Glu)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1120del (p.Gln374fs)
|
rs2135292079
|
|
NM_000051.4(ATM):c.1121A>C (p.Gln374Pro)
|
rs1555069640
|
|
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg)
|
rs1555069640
|
|
NM_000051.4(ATM):c.1122A>G (p.Gln374=)
|
rs1264315069
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
NM_000051.4(ATM):c.1124del (p.Arg375fs)
|
rs1555069653
|
|
NM_000051.4(ATM):c.1125A>G (p.Arg375=)
|
rs2135292242
|
|
NM_000051.4(ATM):c.1126G>A (p.Glu376Lys)
|
rs1555069657
|
|
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter)
|
rs1555069657
|
|
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs)
|
rs1064795624
|
|
NM_000051.4(ATM):c.1128A>G (p.Glu376=)
|
rs1186427608
|
|
NM_000051.4(ATM):c.1129T>A (p.Ser377Thr)
|
|
|
NM_000051.4(ATM):c.1129T>C (p.Ser377Pro)
|
rs876660620
|
|
NM_000051.4(ATM):c.112G>A (p.Glu38Lys)
|
rs1591446961
|
|
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys)
|
rs1555069665
|
|
NM_000051.4(ATM):c.1131T>A (p.Ser377=)
|
|
|
NM_000051.4(ATM):c.1131T>C (p.Ser377=)
|
rs2135292457
|
|
NM_000051.4(ATM):c.1133G>A (p.Ser378Asn)
|
rs1591517681
|
|
NM_000051.4(ATM):c.1134T>C (p.Ser378=)
|
|
|
NM_000051.4(ATM):c.1138T>C (p.Tyr380His)
|
|
|
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys)
|
rs786203855
|
|
NM_000051.4(ATM):c.1140C>T (p.Tyr380=)
|
rs2135292742
|
|
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)
|
rs1555069677
|
|
NM_000051.4(ATM):c.1141A>G (p.Ser381Gly)
|
rs786203602
|
|
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
|
|
|
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1142G>C (p.Ser381Thr)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile)
|
rs1462596554
|
|
NM_000051.4(ATM):c.1143T>C (p.Ser381=)
|
rs755991658
|
|
NM_000051.4(ATM):c.1145T>A (p.Val382Asp)
|
|
|
NM_000051.4(ATM):c.1146C>A (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1146C>G (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1146C>T (p.Val382=)
|
rs786201150
|
|
NM_000051.4(ATM):c.1147C>G (p.Pro383Ala)
|
rs864622650
|
|
NM_000051.4(ATM):c.1147C>T (p.Pro383Ser)
|
rs864622650
|
|
NM_000051.4(ATM):c.1148C>G (p.Pro383Arg)
|
rs1555069702
|
|
NM_000051.4(ATM):c.1148C>T (p.Pro383Leu)
|
rs1555069702
|
|
NM_000051.4(ATM):c.1149T>C (p.Pro383=)
|
rs786201409
|
|
NM_000051.4(ATM):c.114A>G (p.Glu38=)
|
rs1591446969
|
|
NM_000051.4(ATM):c.1150T>G (p.Cys384Gly)
|
rs2135293079
|
|
NM_000051.4(ATM):c.1151G>C (p.Cys384Ser)
|
|
|
NM_000051.4(ATM):c.1151dup (p.Cys384fs)
|
rs2079995970
|
|
NM_000051.4(ATM):c.1153A>C (p.Lys385Gln)
|
|
|
NM_000051.4(ATM):c.1153A>G (p.Lys385Glu)
|
rs2079996194
|
|
NM_000051.4(ATM):c.1154_1156del (p.Lys385del)
|
rs2135293203
|
|
NM_000051.4(ATM):c.1155A>G (p.Lys385=)
|
|
|
NM_000051.4(ATM):c.1157G>A (p.Arg386Lys)
|
rs878853484
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln)
|
rs786202686
|
|
NM_000051.4(ATM):c.1159A>G (p.Lys387Glu)
|
rs786202686
|
|
NM_000051.4(ATM):c.1160A>G (p.Lys387Arg)
|
rs876659755
|
|
NM_000051.4(ATM):c.1161G>A (p.Lys387=)
|
rs786202369
|
|
NM_000051.4(ATM):c.1161G>C (p.Lys387Asn)
|
|
|
NM_000051.4(ATM):c.1162A>G (p.Lys388Glu)
|
rs876659570
|
|
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg)
|
rs1060501618
|
|
NM_000051.4(ATM):c.1164A>T (p.Lys388Asn)
|
|
|
NM_000051.4(ATM):c.1165A>C (p.Ile389Leu)
|
rs1060501704
|
|
NM_000051.4(ATM):c.1165A>G (p.Ile389Val)
|
rs1060501704
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
|
|
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr)
|
rs757486696
|
|
NM_000051.4(ATM):c.1168G>A (p.Glu390Lys)
|
rs876660106
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
NM_000051.4(ATM):c.1169A>G (p.Glu390Gly)
|
rs2135293668
|
|
NM_000051.4(ATM):c.116C>G (p.Thr39Arg)
|
rs1555054109
|
|
NM_000051.4(ATM):c.116C>T (p.Thr39Ile)
|
|
|
NM_000051.4(ATM):c.1170A>G (p.Glu390=)
|
rs2135293693
|
|
NM_000051.4(ATM):c.1171C>A (p.Leu391Ile)
|
rs2135293721
|
|
NM_000051.4(ATM):c.1172dup (p.Gly392fs)
|
|
|
NM_000051.4(ATM):c.1175G>T (p.Gly392Val)
|
rs779035681
|
|
NM_000051.4(ATM):c.1176C>T (p.Gly392=)
|
rs1800727
|
|
NM_000051.4(ATM):c.1177T>C (p.Trp393Arg)
|
|
|
NM_000051.4(ATM):c.1177T>G (p.Trp393Gly)
|
rs2135293953
|
|
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)
|
rs1025339570
|
|
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)
|
rs876658567
|
|
NM_000051.4(ATM):c.1179G>C (p.Trp393Cys)
|
rs876658567
|
|
NM_000051.4(ATM):c.1179G>T (p.Trp393Cys)
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.117A>G (p.Thr39=)
|
|
|
NM_000051.4(ATM):c.1183G>A (p.Val395Ile)
|
|
|
NM_000051.4(ATM):c.1183G>T (p.Val395Leu)
|
|
|
NM_000051.4(ATM):c.1184T>C (p.Val395Ala)
|
rs1591517993
|
|
NM_000051.4(ATM):c.1184_1197delinsGTGAT (p.Val395_His399delinsGlyAsp)
|
|
|
NM_000051.4(ATM):c.1185A>G (p.Val395=)
|
rs1555069760
|
|
NM_000051.4(ATM):c.1187_1188delinsAT (p.Ile396Asn)
|
rs2079998724
|
|
NM_000051.4(ATM):c.1188A>G (p.Ile396Met)
|
rs1565379417
|
|
NM_000051.4(ATM):c.1189A>T (p.Lys397Ter)
|
rs2079999064
|
|
NM_000051.4(ATM):c.118A>G (p.Ile40Val)
|
rs1064796002
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
NM_000051.4(ATM):c.1191A>C (p.Lys397Asn)
|
rs2079999164
|
|
NM_000051.4(ATM):c.1191del (p.Asp398fs)
|
|
|
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)
|
rs876658833
|
|
NM_000051.4(ATM):c.1192del (p.Asp398fs)
|
rs1057519330
|
|
NM_000051.4(ATM):c.1193A>T (p.Asp398Val)
|
|
|
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)
|
rs551872656
|
|
NM_000051.4(ATM):c.1194T>C (p.Asp398=)
|
rs551872656
|
|
NM_000051.4(ATM):c.1195C>T (p.His399Tyr)
|
rs1565379474
|
|
NM_000051.4(ATM):c.1196A>G (p.His399Arg)
|
rs1565379486
|
|
NM_000051.4(ATM):c.1197C>G (p.His399Gln)
|
rs786201131
|
|
NM_000051.4(ATM):c.1199T>C (p.Leu400Pro)
|
|
|
NM_000051.4(ATM):c.1199T>G (p.Leu400Arg)
|
|
|
NM_000051.4(ATM):c.119T>C (p.Ile40Thr)
|
rs2135012557
|
|
NM_000051.4(ATM):c.119_122del (p.Ile40fs)
|
rs876659116
|
|
NM_000051.4(ATM):c.11T>C (p.Val4Ala)
|
rs1555053873
|
|
NM_000051.4(ATM):c.1200T>C (p.Leu400=)
|
rs1274342103
|
|
NM_000051.4(ATM):c.1201C>G (p.Gln401Glu)
|
rs772529339
|
|
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000051.4(ATM):c.1203G>C (p.Gln401His)
|
rs1214283617
|
|
NM_000051.4(ATM):c.1203G>T (p.Gln401His)
|
rs1214283617
|
|
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr)
|
rs1591518138
|
|
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu)
|
rs747563556
|
|
NM_000051.4(ATM):c.1209A>C (p.Ser403=)
|
|
|
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu)
|
rs730881340
|
|
NM_000051.4(ATM):c.1210C>T (p.Gln404Ter)
|
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.1213A>G (p.Asn405Asp)
|
|
|
NM_000051.4(ATM):c.1214del (p.Asn405fs)
|
rs2080001212
|
|
NM_000051.4(ATM):c.1215T>C (p.Asn405=)
|
rs2135295261
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1216G>A (p.Asp406Asn)
|
rs2080001416
|
|
NM_000051.4(ATM):c.1218T>C (p.Asp406=)
|
rs2135295378
|
|
NM_000051.4(ATM):c.1219T>G (p.Phe407Val)
|
|
|
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)
|
rs1064792998
|
|
NM_000051.4(ATM):c.121A>T (p.Lys41Ter)
|
|
|
NM_000051.4(ATM):c.1221dup (p.Asp408Ter)
|
rs1064792998
|
|
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly)
|
rs587781582
|
|
NM_000051.4(ATM):c.1224dup (p.Leu409fs)
|
|
|
NM_000051.4(ATM):c.1225C>A (p.Leu409Ile)
|
rs786203815
|
|
NM_000051.4(ATM):c.1225C>G (p.Leu409Val)
|
|
|
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.1228_1229insCGCCT (p.Val410fs)
|
|
|
NM_000051.4(ATM):c.122_123del (p.Lys41fs)
|
|
|
NM_000051.4(ATM):c.1230G>A (p.Val410=)
|
rs1555069869
|
|
NM_000051.4(ATM):c.1230G>T (p.Val410=)
|
rs1555069869
|
|
NM_000051.4(ATM):c.1231_1235dup (p.Trp412fs)
|
rs1591518293
|
|
NM_000051.4(ATM):c.1233T>C (p.Pro411=)
|
|
|
NM_000051.4(ATM):c.1233T>G (p.Pro411=)
|
rs1591518323
|
|
NM_000051.4(ATM):c.1235+10T>C
|
|
|
NM_000051.4(ATM):c.1235+10_1235+28del
|
rs1591518436
|
|
NM_000051.4(ATM):c.1235+11A>G
|
rs2135296543
|
|
NM_000051.4(ATM):c.1235+16T>G
|
|
|
NM_000051.4(ATM):c.1235+19C>T
|
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
NM_000051.4(ATM):c.1235+1G>C
|
|
|
NM_000051.4(ATM):c.1235+1del
|
rs886039640
|
|
NM_000051.4(ATM):c.1235+20T>C
|
rs762656752
|
|
NM_000051.4(ATM):c.1235+2T>C
|
rs2135296157
|
|
NM_000051.4(ATM):c.1235+3A>T
|
|
|
NM_000051.4(ATM):c.1235+4A>G
|
rs786203147
|
|
NM_000051.4(ATM):c.1235+4A>T
|
rs786203147
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
NM_000051.4(ATM):c.1235+5A>C
|
rs1064793679
|
|
NM_000051.4(ATM):c.1235+5A>G
|
rs1064793679
|
|
NM_000051.4(ATM):c.1235+8G>A
|
|
|
NM_000051.4(ATM):c.1235+8G>T
|
rs1555069907
|
|
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser)
|
rs587779813
|
|
NM_000051.4(ATM):c.1236-10T>C
|
rs1364244917
|
|
NM_000051.4(ATM):c.1236-10_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-14_1236-13insA
|
|
|
NM_000051.4(ATM):c.1236-14_1236-13insC
|
|
|
NM_000051.4(ATM):c.1236-17T>G
|
|
|
NM_000051.4(ATM):c.1236-18C>T
|
rs201767651
|
|
NM_000051.4(ATM):c.1236-18_1236-17del
|
rs2080085044
|
|
NM_000051.4(ATM):c.1236-18_1236-17dup
|
|
|
NM_000051.4(ATM):c.1236-19C>A
|
|
|
NM_000051.4(ATM):c.1236-19C>G
|
|
|
NM_000051.4(ATM):c.1236-19_1236-18insT
|
rs1211190659
|
|
NM_000051.4(ATM):c.1236-1G>A
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-1G>C
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-1G>T
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-1_1237del
|
rs1591522664
|
|
NM_000051.4(ATM):c.1236-20T>C
|
rs2080084457
|
|
NM_000051.4(ATM):c.1236-20_1236-19insA
|
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1236-2_1236-1del
|
rs1591522638
|
|
NM_000051.4(ATM):c.1236-2_1236del
|
rs1591522646
|
|
NM_000051.4(ATM):c.1236-2_1237del
|
rs1591522650
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
NM_000051.4(ATM):c.1236-3T>A
|
rs763976313
|
|
NM_000051.4(ATM):c.1236-3T>C
|
rs763976313
|
|
NM_000051.4(ATM):c.1236-3_1236-2del
|
rs587782572
|
|
NM_000051.4(ATM):c.1236-3_1236-2insC
|
rs730881281
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3insC
|
rs2135315149
|
|
NM_000051.4(ATM):c.1236-5T>C
|
rs1591522569
|
|
NM_000051.4(ATM):c.1236-6T>C
|
|
|
NM_000051.4(ATM):c.1236-6_1236-5insC
|
rs878853483
|
|
NM_000051.4(ATM):c.1236-7T>C
|
rs2080086515
|
|
NM_000051.4(ATM):c.1236-7_1236-6insA
|
|
|
NM_000051.4(ATM):c.1236-9T>C
|
rs2135314849
|
|
NM_000051.4(ATM):c.1236-9T>G
|
rs2135314849
|
|
NM_000051.4(ATM):c.1236-9_1236-8insC
|
rs863224290
|
|
NM_000051.4(ATM):c.1236-9_1236-8insG
|
rs863224290
|
|
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys)
|
rs79220522
|
|
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs)
|
rs1591522681
|
|
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs)
|
rs1591522681
|
|
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup)
|
rs1420011788
|
|
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs)
|
rs1420011788
|
|
NM_000051.4(ATM):c.1238del (p.Leu413fs)
|
rs2080088451
|
|
NM_000051.4(ATM):c.123A>G (p.Lys41=)
|
rs2135012681
|
|
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)
|
rs866521873
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1241A>C (p.Gln414Pro)
|
rs2080088877
|
|
NM_000051.4(ATM):c.1241A>T (p.Gln414Leu)
|
|
|
NM_000051.4(ATM):c.1242G>T (p.Gln414His)
|
rs786203667
|
|
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)
|
rs1591522756
|
|
NM_000051.4(ATM):c.1244T>A (p.Ile415Asn)
|
rs1565381748
|
|
NM_000051.4(ATM):c.1245T>C (p.Ile415=)
|
|
|
NM_000051.4(ATM):c.1245T>G (p.Ile415Met)
|
rs1060501554
|
|
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe)
|
rs1591522786
|
|
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
|
|
|
NM_000051.4(ATM):c.1247C>T (p.Ala416Val)
|
rs2080089501
|
|
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)
|
rs863224556
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
NM_000051.4(ATM):c.124C>A (p.His42Asn)
|
rs1591447034
|
|
NM_000051.4(ATM):c.1250C>T (p.Thr417Ile)
|
|
|
NM_000051.4(ATM):c.1251C>G (p.Thr417=)
|
rs1555070643
|
|
NM_000051.4(ATM):c.1251C>T (p.Thr417=)
|
rs1555070643
|
|
NM_000051.4(ATM):c.1254_1258del (p.Gln418fs)
|
rs2135316258
|
|
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
|
|
|
NM_000051.4(ATM):c.1257A>G (p.Leu419=)
|
rs779037197
|
|
NM_000051.4(ATM):c.1258A>C (p.Ile420Leu)
|
rs1565381867
|
|
NM_000051.4(ATM):c.1258del (p.Ile420fs)
|
|
|
NM_000051.4(ATM):c.1259T>C (p.Ile420Thr)
|
rs2080090371
|
|
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del)
|
rs1555070659
|
|
NM_000051.4(ATM):c.125A>T (p.His42Leu)
|
|
|
NM_000051.4(ATM):c.1260A>C (p.Ile420=)
|
rs750468699
|
|
NM_000051.4(ATM):c.1260A>G (p.Ile420Met)
|
|
|
NM_000051.4(ATM):c.1261_1263del (p.Ser421del)
|
rs1555070666
|
|
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)
|
rs2135316531
|
|
NM_000051.4(ATM):c.1263A>G (p.Ser421=)
|
rs1060504285
|
|
NM_000051.4(ATM):c.1264A>G (p.Lys422Glu)
|
rs1555070678
|
|
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.1266G>C (p.Lys422Asn)
|
rs1057520445
|
|
NM_000051.4(ATM):c.1267T>C (p.Tyr423His)
|
|
|
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys)
|
rs1064796159
|
|
NM_000051.4(ATM):c.126T>G (p.His42Gln)
|
rs587781661
|
|
NM_000051.4(ATM):c.1270C>A (p.Pro424Thr)
|
rs1591522957
|
|
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala)
|
rs1591522957
|
|
NM_000051.4(ATM):c.1270C>T (p.Pro424Ser)
|
|
|
NM_000051.4(ATM):c.1271C>T (p.Pro424Leu)
|
rs147472613
|
|
NM_000051.4(ATM):c.1272T>G (p.Pro424=)
|
|
|
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)
|
rs769214234
|
|
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
NM_000051.4(ATM):c.1274C>A (p.Ala425Glu)
|
rs1301649540
|
|
NM_000051.4(ATM):c.1274C>T (p.Ala425Val)
|
rs1301649540
|
|
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)
|
rs1591523010
|
|
NM_000051.4(ATM):c.1275A>G (p.Ala425=)
|
rs1591523031
|
|
NM_000051.4(ATM):c.1275A>T (p.Ala425=)
|
|
|
NM_000051.4(ATM):c.1276del (p.Ser426fs)
|
rs2135316980
|
|
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn)
|
rs1350528190
|
|
NM_000051.4(ATM):c.1278T>C (p.Ser426=)
|
|
|
NM_000051.4(ATM):c.1278T>G (p.Ser426Arg)
|
rs2135317047
|
|
NM_000051.4(ATM):c.127C>A (p.Leu43Ile)
|
rs772591447
|
|
NM_000051.4(ATM):c.127C>T (p.Leu43=)
|
rs772591447
|
|
NM_000051.4(ATM):c.1280T>A (p.Leu427Ter)
|
rs2135317116
|
|
NM_000051.4(ATM):c.1280T>C (p.Leu427Ser)
|
rs2135317116
|
|
NM_000051.4(ATM):c.1281A>T (p.Leu427Phe)
|
rs2080092432
|
|
NM_000051.4(ATM):c.1282C>A (p.Pro428Thr)
|
|
|
NM_000051.4(ATM):c.1283C>A (p.Pro428His)
|
|
|
NM_000051.4(ATM):c.1283C>T (p.Pro428Leu)
|
|
|
NM_000051.4(ATM):c.1284_1291del (p.Asn429fs)
|
rs863224460
|
|
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)
|
rs1555070694
|
|
NM_000051.4(ATM):c.1287C>A (p.Asn429Lys)
|
|
|
NM_000051.4(ATM):c.1288T>C (p.Cys430Arg)
|
rs2080092840
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1293G>A (p.Glu431=)
|
rs2135317554
|
|
NM_000051.4(ATM):c.1293_1294delinsAT (p.Glu431_Leu432=)
|
rs1591523100
|
|
NM_000051.4(ATM):c.1294_1295delinsGG (p.Leu432Gly)
|
|
|
NM_000051.4(ATM):c.1294_1306delinsA (p.Leu432_Leu436delinsMet)
|
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg)
|
rs546621356
|
|
NM_000051.4(ATM):c.1296G>A (p.Leu432=)
|
rs876658894
|
|
NM_000051.4(ATM):c.1296G>C (p.Leu432=)
|
rs876658894
|
|
NM_000051.4(ATM):c.1296G>T (p.Leu432=)
|
|
|
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)
|
|
|
NM_000051.4(ATM):c.1298C>G (p.Ser433Cys)
|
|
|
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
|
|
|
NM_000051.4(ATM):c.1299T>G (p.Ser433=)
|
rs1565382118
|
|
NM_000051.4(ATM):c.12A>G (p.Val4=)
|
rs786201365
|
|
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.1301C>T (p.Pro434Leu)
|
rs2080093920
|
|
NM_000051.4(ATM):c.1304T>C (p.Leu435Ser)
|
rs1565382166
|
|
NM_000051.4(ATM):c.1304T>G (p.Leu435Ter)
|
rs1565382166
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1307T>A (p.Leu436Gln)
|
rs1060501608
|
|
NM_000051.4(ATM):c.1307T>C (p.Leu436Pro)
|
rs1060501608
|
|
NM_000051.4(ATM):c.1307T>G (p.Leu436Arg)
|
|
|
NM_000051.4(ATM):c.1308G>T (p.Leu436=)
|
|
|
NM_000051.4(ATM):c.1309A>C (p.Met437Leu)
|
rs2135318098
|
|
NM_000051.4(ATM):c.1309A>T (p.Met437Leu)
|
|
|
NM_000051.4(ATM):c.130G>C (p.Asp44His)
|
|
|
NM_000051.4(ATM):c.130G>T (p.Asp44Tyr)
|
rs1320733816
|
|
NM_000051.4(ATM):c.1310T>C (p.Met437Thr)
|
rs587779814
|
|
NM_000051.4(ATM):c.1312A>G (p.Ile438Val)
|
|
|
NM_000051.4(ATM):c.1313_1389delinsGACTCCATTAC (p.Ile438_Ala463delinsArgLeuHisTyr)
|
rs1565382200
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
NM_000051.4(ATM):c.1314A>T (p.Ile438=)
|
|
|
NM_000051.4(ATM):c.1314dup (p.Leu439fs)
|
rs1555070739
|
|
NM_000051.4(ATM):c.1315C>A (p.Leu439Ile)
|
|
|
NM_000051.4(ATM):c.1316T>A (p.Leu439Gln)
|
rs2080095349
|
|
NM_000051.4(ATM):c.1316T>C (p.Leu439Pro)
|
rs2080095349
|
|
NM_000051.4(ATM):c.1318T>C (p.Ser440Pro)
|
|
|
NM_000051.4(ATM):c.131A>T (p.Asp44Val)
|
rs150143957
|
|
NM_000051.4(ATM):c.1320T>A (p.Ser440=)
|
|
|
NM_000051.4(ATM):c.1320T>G (p.Ser440=)
|
|
|
NM_000051.4(ATM):c.1320_1321del (p.Gln441fs)
|
rs1555070745
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
NM_000051.4(ATM):c.1323G>A (p.Gln441=)
|
rs2080095950
|
|
NM_000051.4(ATM):c.1323G>C (p.Gln441His)
|
|
|
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe)
|
rs1060501574
|
|
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro)
|
rs1064794732
|
|
NM_000051.4(ATM):c.1326T>A (p.Leu442=)
|
|
|
NM_000051.4(ATM):c.1327C>G (p.Leu443Val)
|
rs1057524185
|
|
NM_000051.4(ATM):c.1327C>T (p.Leu443=)
|
rs1057524185
|
|
NM_000051.4(ATM):c.1329A>G (p.Leu443=)
|
rs201460863
|
|
NM_000051.4(ATM):c.1329A>T (p.Leu443=)
|
rs201460863
|
|
NM_000051.4(ATM):c.1329del (p.Gln445fs)
|
rs587782844
|
|
NM_000051.4(ATM):c.132T>C (p.Asp44=)
|
rs1555054149
|
|
NM_000051.4(ATM):c.1330C>T (p.Pro444Ser)
|
|
|
NM_000051.4(ATM):c.1331C>A (p.Pro444His)
|
rs2080096939
|
|
NM_000051.4(ATM):c.1331C>T (p.Pro444Leu)
|
|
|
NM_000051.4(ATM):c.1332C>T (p.Pro444=)
|
|
|
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)
|
rs2080097197
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys)
|
rs587782121
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
NM_000051.4(ATM):c.1337A>G (p.Gln446Arg)
|
rs1292838154
|
|
NM_000051.4(ATM):c.133C>A (p.Arg45=)
|
rs3218684
|
|
NM_000051.4(ATM):c.1340G>C (p.Arg447Pro)
|
rs760676955
|
|
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu)
|
rs760676955
|
|
NM_000051.4(ATM):c.1341A>T (p.Arg447=)
|
rs2135319279
|
|
NM_000051.4(ATM):c.1342C>G (p.His448Asp)
|
|
|
NM_000051.4(ATM):c.1342C>T (p.His448Tyr)
|
rs2080098243
|
|
NM_000051.4(ATM):c.1343A>T (p.His448Leu)
|
|
|
NM_000051.4(ATM):c.1344T>C (p.His448=)
|
rs2080098485
|
|
NM_000051.4(ATM):c.1345G>A (p.Gly449Arg)
|
|
|
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)
|
rs1163918420
|
|
NM_000051.4(ATM):c.1347G>A (p.Gly449=)
|
rs1591523440
|
|
NM_000051.4(ATM):c.1347_1348del (p.Glu450fs)
|
|
|
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys)
|
rs1555070786
|
|
NM_000051.4(ATM):c.1348G>T (p.Glu450Ter)
|
rs1555070786
|
|
NM_000051.4(ATM):c.1348del (p.Glu450fs)
|
rs758004668
|
|
NM_000051.4(ATM):c.1350A>G (p.Glu450=)
|
rs2135319715
|
|
NM_000051.4(ATM):c.1351C>G (p.Arg451Gly)
|
rs201719927
|
|
NM_000051.4(ATM):c.1352G>C (p.Arg451Pro)
|
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
NM_000051.4(ATM):c.1354A>T (p.Thr452Ser)
|
rs1324524747
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.1356A>G (p.Thr452=)
|
rs1555070803
|
|
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu)
|
rs786204124
|
|
NM_000051.4(ATM):c.1358dup (p.Tyr454fs)
|
rs1555070805
|
|
NM_000051.4(ATM):c.1359A>G (p.Pro453=)
|
rs786203693
|
|
NM_000051.4(ATM):c.135G>A (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135G>C (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135G>T (p.Arg45=)
|
rs970407823
|
|
NM_000051.4(ATM):c.135dup (p.His46fs)
|
rs1591447147
|
|
NM_000051.4(ATM):c.1360T>C (p.Tyr454His)
|
rs1555070814
|
|
NM_000051.4(ATM):c.1362T>A (p.Tyr454Ter)
|
|
|
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)
|
rs876658772
|
|
NM_000051.4(ATM):c.1365G>A (p.Val455=)
|
rs765130666
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
NM_000051.4(ATM):c.1368dup (p.Arg457fs)
|
rs1565382593
|
|
NM_000051.4(ATM):c.1369C>A (p.Arg457=)
|
rs749036865
|
|
NM_000051.4(ATM):c.1369C>G (p.Arg457Gly)
|
rs749036865
|
|
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln)
|
rs780097986
|
|
NM_000051.4(ATM):c.1370G>C (p.Arg457Pro)
|
|
|
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)
|
rs780097986
|
|
NM_000051.4(ATM):c.1371A>T (p.Arg457=)
|
|
|
NM_000051.4(ATM):c.1372T>C (p.Cys458Arg)
|
rs876660619
|
|
NM_000051.4(ATM):c.1372_1397dup (p.Gln466fs)
|
rs2135320462
|
|
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr)
|
rs1064796013
|
|
NM_000051.4(ATM):c.1373G>C (p.Cys458Ser)
|
rs1064796013
|
|
NM_000051.4(ATM):c.1374C>G (p.Cys458Trp)
|
rs2135320531
|
|
NM_000051.4(ATM):c.1374C>T (p.Cys458=)
|
rs2135320531
|
|
NM_000051.4(ATM):c.1375C>A (p.Leu459Ile)
|
rs1064794635
|
|
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.1378dup (p.Thr460fs)
|
rs2080101851
|
|
NM_000051.4(ATM):c.1379C>A (p.Thr460Lys)
|
|
|
NM_000051.4(ATM):c.1379C>G (p.Thr460Arg)
|
rs587781841
|
|
NM_000051.4(ATM):c.137A>C (p.His46Pro)
|
rs1591447177
|
|
NM_000051.4(ATM):c.137A>G (p.His46Arg)
|
rs1591447177
|
|
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.1381G>A (p.Glu461Lys)
|
rs781578507
|
|
NM_000051.4(ATM):c.1381G>T (p.Glu461Ter)
|
|
|
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly)
|
rs2080102342
|
|
NM_000051.4(ATM):c.1383A>G (p.Glu461=)
|
rs748493136
|
|
NM_000051.4(ATM):c.1384G>A (p.Val462Ile)
|
|
|
NM_000051.4(ATM):c.1385T>C (p.Val462Ala)
|
rs1555070869
|
|
NM_000051.4(ATM):c.1386T>A (p.Val462=)
|
rs1591523725
|
|
NM_000051.4(ATM):c.1386T>C (p.Val462=)
|
|
|
NM_000051.4(ATM):c.1386T>G (p.Val462=)
|
|
|
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr)
|
rs1565382695
|
|
NM_000051.4(ATM):c.1388C>A (p.Ala463Glu)
|
|
|
NM_000051.4(ATM):c.1388C>G (p.Ala463Gly)
|
|
|
NM_000051.4(ATM):c.1389A>G (p.Ala463=)
|
rs2080102935
|
|
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.1390T>C (p.Leu464=)
|
|
|
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)
|
rs2080103035
|
|
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe)
|
rs760191806
|
|
NM_000051.4(ATM):c.1393T>C (p.Cys465Arg)
|
|
|
NM_000051.4(ATM):c.1394G>C (p.Cys465Ser)
|
rs1555070888
|
|
NM_000051.4(ATM):c.1394_1395del (p.Cys465fs)
|
rs876659866
|
|
NM_000051.4(ATM):c.1395T>C (p.Cys465=)
|
|
|
NM_000051.4(ATM):c.1395T>G (p.Cys465Trp)
|
rs1240144277
|
|
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)
|
rs876660485
|
|
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg)
|
rs770028453
|
|
NM_000051.4(ATM):c.1398A>G (p.Gln466=)
|
rs1591523834
|
|
NM_000051.4(ATM):c.1399G>A (p.Asp467Asn)
|
rs2135321547
|
|
NM_000051.4(ATM):c.139T>G (p.Ser47Ala)
|
|
|
NM_000051.4(ATM):c.13C>G (p.Leu5Val)
|
rs2078805774
|
|
NM_000051.4(ATM):c.13C>T (p.Leu5Phe)
|
|
|
NM_000051.4(ATM):c.1401C>A (p.Asp467Glu)
|
rs2135321564
|
|
NM_000051.4(ATM):c.1401dup (p.Lys468fs)
|
|
|
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu)
|
rs876660820
|
|
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg)
|
rs1060501628
|
|
NM_000051.4(ATM):c.1404G>A (p.Lys468=)
|
rs2135321676
|
|
NM_000051.4(ATM):c.1405A>C (p.Arg469=)
|
|
|
NM_000051.4(ATM):c.1406G>A (p.Arg469Lys)
|
|
|
NM_000051.4(ATM):c.1406G>C (p.Arg469Thr)
|
|
|
NM_000051.4(ATM):c.1406_1413del (p.Arg469fs)
|
rs2135321724
|
|
NM_000051.4(ATM):c.1407G>T (p.Arg469Ser)
|
|
|
NM_000051.4(ATM):c.1408_1423del (p.Ser470fs)
|
rs2080104347
|
|
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter)
|
rs1591523878
|
|
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu)
|
rs1591523878
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
NM_000051.4(ATM):c.140C>T (p.Ser47Leu)
|
|
|
NM_000051.4(ATM):c.1410A>C (p.Ser470=)
|
rs939650649
|
|
NM_000051.4(ATM):c.1411A>C (p.Asn471His)
|
rs2080104786
|
|
NM_000051.4(ATM):c.1414C>T (p.Leu472=)
|
|
|
NM_000051.4(ATM):c.1416A>C (p.Leu472=)
|
|
|
NM_000051.4(ATM):c.1416A>G (p.Leu472=)
|
rs786201691
|
|
NM_000051.4(ATM):c.1417G>A (p.Glu473Lys)
|
rs1565382834
|
|
NM_000051.4(ATM):c.1417G>C (p.Glu473Gln)
|
|
|
NM_000051.4(ATM):c.1418A>G (p.Glu473Gly)
|
rs1555070923
|
|
NM_000051.4(ATM):c.1419A>G (p.Glu473=)
|
rs2135322174
|
|
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs)
|
rs2080105212
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
NM_000051.4(ATM):c.1422C>T (p.Ser474=)
|
|
|
NM_000051.4(ATM):c.1424C>G (p.Ser475Ter)
|
rs786203550
|
|
NM_000051.4(ATM):c.1425A>G (p.Ser475=)
|
rs2080105606
|
|
NM_000051.4(ATM):c.1426C>G (p.Gln476Glu)
|
|
|
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
|
|
|
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg)
|
rs1397399631
|
|
NM_000051.4(ATM):c.1427A>T (p.Gln476Leu)
|
rs1397399631
|
|
NM_000051.4(ATM):c.1428A>G (p.Gln476=)
|
rs745509434
|
|
NM_000051.4(ATM):c.1429A>G (p.Lys477Glu)
|
rs2080106015
|
|
NM_000051.4(ATM):c.142G>C (p.Asp48His)
|
rs2135013650
|
|
NM_000051.4(ATM):c.142G>T (p.Asp48Tyr)
|
|
|
NM_000051.4(ATM):c.1431G>A (p.Lys477=)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1431_1432delinsTTTATTAAAGCTCA (p.Lys477_Ser478delinsAsnLeuLeuLysLeuThr)
|
|
|
NM_000051.4(ATM):c.1432T>C (p.Ser478Pro)
|
rs2080106232
|
|
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)
|
rs2080106350
|
|
NM_000051.4(ATM):c.1433C>T (p.Ser478Leu)
|
|
|
NM_000051.4(ATM):c.1434A>G (p.Ser478=)
|
rs2135322636
|
|
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.1436A>C (p.Asp479Ala)
|
rs1555070958
|
|
NM_000051.4(ATM):c.1437T>G (p.Asp479Glu)
|
rs1565382937
|
|
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile)
|
rs879254243
|
|
NM_000051.4(ATM):c.1438T>G (p.Leu480Val)
|
rs879254243
|
|
NM_000051.4(ATM):c.1438_1442del (p.Leu480fs)
|
|
|
NM_000051.4(ATM):c.1439_1448del (p.Leu480fs)
|
rs876658651
|
|
NM_000051.4(ATM):c.143A>G (p.Asp48Gly)
|
rs2078822797
|
|
NM_000051.4(ATM):c.1440A>T (p.Leu480Phe)
|
rs370240037
|
|
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
|
|
|
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe)
|
rs753808755
|
|
NM_000051.4(ATM):c.1444A>G (p.Lys482Glu)
|
|
|
NM_000051.4(ATM):c.1444A>T (p.Lys482Ter)
|
rs202173660
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
NM_000051.4(ATM):c.1447C>T (p.Leu483Phe)
|
rs2135323121
|
|
NM_000051.4(ATM):c.1448T>C (p.Leu483Pro)
|
rs2080107968
|
|
NM_000051.4(ATM):c.1449C>G (p.Leu483=)
|
rs948934905
|
|
NM_000051.4(ATM):c.1450T>C (p.Trp484Arg)
|
rs2080108178
|
|
NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)
|
|
|
NM_000051.4(ATM):c.1453A>G (p.Asn485Asp)
|
|
|
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys)
|
rs1385019623
|
|
NM_000051.4(ATM):c.1456A>G (p.Lys486Glu)
|
|
|
NM_000051.4(ATM):c.1457A>C (p.Lys486Thr)
|
|
|
NM_000051.4(ATM):c.1459del (p.Ile487fs)
|
|
|
NM_000051.4(ATM):c.145T>A (p.Ser49Thr)
|
rs2135013712
|
|
NM_000051.4(ATM):c.145del (p.Ser49fs)
|
|
|
NM_000051.4(ATM):c.1460T>C (p.Ile487Thr)
|
|
|
NM_000051.4(ATM):c.1461T>G (p.Ile487Met)
|
rs2080108393
|
|
NM_000051.4(ATM):c.1462T>A (p.Trp488Arg)
|
rs2135323595
|
|
NM_000051.4(ATM):c.1462T>C (p.Trp488Arg)
|
rs2135323595
|
|
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)
|
|
|
NM_000051.4(ATM):c.1463G>T (p.Trp488Leu)
|
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1464G>C (p.Trp488Cys)
|
rs377597949
|
|
NM_000051.4(ATM):c.1464del (p.Trp488fs)
|
rs1555070994
|
|
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly)
|
rs1591524158
|
|
NM_000051.4(ATM):c.1466G>C (p.Cys489Ser)
|
rs776412334
|
|
NM_000051.4(ATM):c.1466_1467del (p.Cys489fs)
|
rs2080108960
|
|
NM_000051.4(ATM):c.1467T>C (p.Cys489=)
|
rs1591524178
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
NM_000051.4(ATM):c.1468A>G (p.Ile490Val)
|
rs761850075
|
|
NM_000051.4(ATM):c.1469T>C (p.Ile490Thr)
|
rs1565383172
|
|
NM_000051.4(ATM):c.146C>T (p.Ser49Phe)
|
rs1800054
|
|
NM_000051.4(ATM):c.1470T>G (p.Ile490Met)
|
|
|
NM_000051.4(ATM):c.1470dup (p.Thr491fs)
|
rs2135323866
|
|
NM_000051.4(ATM):c.1471dup (p.Thr491fs)
|
rs2080109832
|
|
NM_000051.4(ATM):c.1473C>A (p.Thr491=)
|
rs764937436
|
|
NM_000051.4(ATM):c.1473C>T (p.Thr491=)
|
rs764937436
|
|
NM_000051.4(ATM):c.1475T>C (p.Phe492Ser)
|
rs1555071017
|
|
NM_000051.4(ATM):c.1476T>C (p.Phe492=)
|
rs1591524241
|
|
NM_000051.4(ATM):c.1476dup (p.Arg493fs)
|
rs1565383194
|
|
NM_000051.4(ATM):c.1478G>A (p.Arg493His)
|
rs1565383235
|
|
NM_000051.4(ATM):c.1479T>C (p.Arg493=)
|
|
|
NM_000051.4(ATM):c.1479del (p.Gly494fs)
|
|
|
NM_000051.4(ATM):c.147C>T (p.Ser49=)
|
rs876660033
|
|
NM_000051.4(ATM):c.1481G>C (p.Gly494Ala)
|
|
|
NM_000051.4(ATM):c.1481G>T (p.Gly494Val)
|
rs786202233
|
|
NM_000051.4(ATM):c.1482T>G (p.Gly494=)
|
rs1335320350
|
|
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)
|
rs786201969
|
|
NM_000051.4(ATM):c.1483dup (p.Ile495fs)
|
rs2135324290
|
|
NM_000051.4(ATM):c.1484T>G (p.Ile495Arg)
|
|
|
NM_000051.4(ATM):c.1485A>G (p.Ile495Met)
|
rs1565383283
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile)
|
rs778890679
|
|
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr)
|
rs2080111322
|
|
NM_000051.4(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer)
|
rs1064795556
|
|
NM_000051.4(ATM):c.1488T>A (p.Ser496Arg)
|
|
|
NM_000051.4(ATM):c.1488T>C (p.Ser496=)
|
|
|
NM_000051.4(ATM):c.1488T>G (p.Ser496Arg)
|
|
|
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr)
|
rs1375637948
|
|
NM_000051.4(ATM):c.148A>C (p.Lys50Gln)
|
rs1591447239
|
|
NM_000051.4(ATM):c.1490C>A (p.Ser497Tyr)
|
|
|
NM_000051.4(ATM):c.1490C>T (p.Ser497Phe)
|
rs2135324525
|
|
NM_000051.4(ATM):c.1491T>A (p.Ser497=)
|
rs1555071057
|
|
NM_000051.4(ATM):c.1491T>C (p.Ser497=)
|
rs1555071057
|
|
NM_000051.4(ATM):c.1491del (p.Glu498fs)
|
rs2135324604
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
NM_000051.4(ATM):c.1493A>G (p.Glu498Gly)
|
|
|
NM_000051.4(ATM):c.1494G>C (p.Glu498Asp)
|
rs763108858
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
NM_000051.4(ATM):c.1496A>G (p.Gln499Arg)
|
rs2080112384
|
|
NM_000051.4(ATM):c.1498A>C (p.Ile500Leu)
|
rs2080112487
|
|
NM_000051.4(ATM):c.1499T>C (p.Ile500Thr)
|
|
|
NM_000051.4(ATM):c.149A>C (p.Lys50Thr)
|
rs1479478300
|
|
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
|
|
|
NM_000051.4(ATM):c.14_21del (p.Leu5fs)
|
|
|
NM_000051.4(ATM):c.1500A>G (p.Ile500Met)
|
rs2135324896
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
NM_000051.4(ATM):c.1502A>G (p.Gln501Arg)
|
|
|
NM_000051.4(ATM):c.1503A>G (p.Gln501=)
|
rs786203736
|
|
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
|
|
|
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr)
|
rs2080112799
|
|
NM_000051.4(ATM):c.1506T>C (p.Ala502=)
|
|
|
NM_000051.4(ATM):c.1507G>A (p.Glu503Lys)
|
|
|
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
|
|
|
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp)
|
rs2135325176
|
|
NM_000051.4(ATM):c.1511A>C (p.Asn504Thr)
|
rs56365018
|
|
NM_000051.4(ATM):c.1512C>T (p.Asn504=)
|
|
|
NM_000051.4(ATM):c.1512del (p.Phe505fs)
|
rs1555071103
|
|
NM_000051.4(ATM):c.1513T>C (p.Phe505Leu)
|
rs1591524421
|
|
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)
|
rs1555071109
|
|
NM_000051.4(ATM):c.1514T>G (p.Phe505Cys)
|
rs1555071109
|
|
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)
|
rs1060501529
|
|
NM_000051.4(ATM):c.1518C>G (p.Gly506=)
|
rs864622528
|
|
NM_000051.4(ATM):c.1518C>T (p.Gly506=)
|
rs864622528
|
|
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)
|
rs786203888
|
|
NM_000051.4(ATM):c.151_153del (p.Gln51del)
|
|
|
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)
|
rs2135325561
|
|
NM_000051.4(ATM):c.1520_1524del (p.Leu507fs)
|
rs2080114187
|
|
NM_000051.4(ATM):c.1521A>G (p.Leu507=)
|
rs2135325598
|
|
NM_000051.4(ATM):c.1522C>T (p.Leu508Phe)
|
rs1011518082
|
|
NM_000051.4(ATM):c.1523T>C (p.Leu508Pro)
|
rs1565383502
|
|
NM_000051.4(ATM):c.1524T>C (p.Leu508=)
|
rs559095379
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1525G>A (p.Gly509Arg)
|
|
|
NM_000051.4(ATM):c.1526G>A (p.Gly509Glu)
|
rs1591524556
|
|
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)
|
|
|
NM_000051.4(ATM):c.1528G>A (p.Ala510Thr)
|
rs1555071138
|
|
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs)
|
rs2080115075
|
|
NM_000051.4(ATM):c.1530del (p.Ala510_Ile511insTer)
|
rs2080115284
|
|
NM_000051.4(ATM):c.1531A>G (p.Ile511Val)
|
rs1591524572
|
|
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr)
|
rs2080115491
|
|
NM_000051.4(ATM):c.1532T>G (p.Ile511Arg)
|
rs2080115491
|
|
NM_000051.4(ATM):c.1533A>G (p.Ile511Met)
|
rs2080115604
|
|
NM_000051.4(ATM):c.1534A>G (p.Ile512Val)
|
rs876658180
|
|
NM_000051.4(ATM):c.1535T>G (p.Ile512Ser)
|
rs2135326136
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
NM_000051.4(ATM):c.1537del (p.Gln513fs)
|
rs1591524613
|
|
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.1538A>T (p.Gln513Leu)
|
rs753109010
|
|
NM_000051.4(ATM):c.1539G>C (p.Gln513His)
|
rs2080116342
|
|
NM_000051.4(ATM):c.153dup (p.Gly52fs)
|
rs1555054197
|
|
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys)
|
rs1591524652
|
|
NM_000051.4(ATM):c.1541G>T (p.Gly514Val)
|
rs2235000
|
|
NM_000051.4(ATM):c.1542T>C (p.Gly514=)
|
rs572567674
|
|
NM_000051.4(ATM):c.1543A>G (p.Ser515Gly)
|
rs2135326489
|
|
NM_000051.4(ATM):c.1544G>C (p.Ser515Thr)
|
rs1555071168
|
|
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)
|
rs786202195
|
|
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)
|
rs786202195
|
|
NM_000051.4(ATM):c.1547_1550delinsA (p.Leu516_Val517delinsTyr)
|
rs1555071174
|
|
NM_000051.4(ATM):c.1547_1551del (p.Ser515_Leu516insTer)
|
|
|
NM_000051.4(ATM):c.1549G>A (p.Val517Ile)
|
rs2080117236
|
|
NM_000051.4(ATM):c.1549G>T (p.Val517Phe)
|
rs2080117236
|
|
NM_000051.4(ATM):c.154G>A (p.Gly52Arg)
|
rs730881362
|
|
NM_000051.4(ATM):c.154G>C (p.Gly52Arg)
|
rs730881362
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.1550T>A (p.Val517Asp)
|
rs777986229
|
|
NM_000051.4(ATM):c.1550T>C (p.Val517Ala)
|
rs777986229
|
|
NM_000051.4(ATM):c.1551T>C (p.Val517=)
|
rs553020161
|
|
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
|
|
|
NM_000051.4(ATM):c.1553A>T (p.Glu518Val)
|
rs2080117672
|
|
NM_000051.4(ATM):c.1553_1555del (p.Glu518del)
|
|
|
NM_000051.4(ATM):c.1554G>C (p.Glu518Asp)
|
rs2080117769
|
|
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)
|
rs758056561
|
|
NM_000051.4(ATM):c.1555G>T (p.Val519Phe)
|
rs758056561
|
|
NM_000051.4(ATM):c.1558G>A (p.Asp520Asn)
|
rs2080118143
|
|
NM_000051.4(ATM):c.1560C>G (p.Asp520Glu)
|
|
|
NM_000051.4(ATM):c.1560C>T (p.Asp520=)
|
rs1591524777
|
|
NM_000051.4(ATM):c.1561A>C (p.Arg521=)
|
rs2080118357
|
|
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly)
|
rs2080118357
|
|
NM_000051.4(ATM):c.1563A>G (p.Arg521=)
|
|
|
NM_000051.4(ATM):c.1564G>A (p.Glu522Lys)
|
rs2080118610
|
|
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)
|
rs2080118610
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1565A>G (p.Glu522Gly)
|
rs1254907954
|
|
NM_000051.4(ATM):c.1566A>C (p.Glu522Asp)
|
|
|
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
|
|
|
NM_000051.4(ATM):c.1568T>A (p.Phe523Tyr)
|
rs768038315
|
|
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser)
|
rs768038315
|
|
NM_000051.4(ATM):c.1569C>G (p.Phe523Leu)
|
|
|
NM_000051.4(ATM):c.156A>C (p.Gly52=)
|
rs876660725
|
|
NM_000051.4(ATM):c.1570T>A (p.Trp524Arg)
|
|
|
NM_000051.4(ATM):c.1571G>A (p.Trp524Ter)
|
rs2080119161
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
NM_000051.4(ATM):c.1572G>C (p.Trp524Cys)
|
rs1060501667
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
NM_000051.4(ATM):c.1574A>C (p.Lys525Thr)
|
rs1591524835
|
|
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn)
|
rs587780613
|
|
NM_000051.4(ATM):c.1575G>T (p.Lys525Asn)
|
rs587780613
|
|
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser)
|
rs2080119755
|
|
NM_000051.4(ATM):c.1578A>G (p.Leu526=)
|
rs1591524857
|
|
NM_000051.4(ATM):c.1578_1579insAA (p.Phe527fs)
|
|
|
NM_000051.4(ATM):c.1579T>A (p.Phe527Ile)
|
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
NM_000051.4(ATM):c.157A>G (p.Lys53Glu)
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.1580T>C (p.Phe527Ser)
|
|
|
NM_000051.4(ATM):c.1581T>C (p.Phe527=)
|
rs1555071227
|
|
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala)
|
rs876658647
|
|
NM_000051.4(ATM):c.1583C>G (p.Thr528Ser)
|
|
|
NM_000051.4(ATM):c.1584T>A (p.Thr528=)
|
|
|
NM_000051.4(ATM):c.1584T>C (p.Thr528=)
|
rs864622408
|
|
NM_000051.4(ATM):c.1585G>A (p.Gly529Arg)
|
|
|
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu)
|
rs1555071242
|
|
NM_000051.4(ATM):c.1586G>C (p.Gly529Ala)
|
|
|
NM_000051.4(ATM):c.1587G>A (p.Gly529=)
|
rs1060504276
|
|
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu)
|
rs2080120731
|
|
NM_000051.4(ATM):c.158A>C (p.Lys53Thr)
|
|
|
NM_000051.4(ATM):c.1590A>G (p.Ser530=)
|
rs2135327907
|
|
NM_000051.4(ATM):c.1591G>C (p.Ala531Pro)
|
rs876660941
|
|
NM_000051.4(ATM):c.1591G>T (p.Ala531Ser)
|
rs876660941
|
|
NM_000051.4(ATM):c.1592C>T (p.Ala531Val)
|
rs1591524927
|
|
NM_000051.4(ATM):c.1595delinsTA (p.Cys532fs)
|
|
|
NM_000051.4(ATM):c.1596C>G (p.Cys532Trp)
|
rs564050785
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
NM_000051.4(ATM):c.1598G>T (p.Arg533Ile)
|
rs2080121541
|
|
NM_000051.4(ATM):c.1599A>G (p.Arg533=)
|
rs1555071269
|
|
NM_000051.4(ATM):c.159A>G (p.Lys53=)
|
rs1060504281
|
|
NM_000051.4(ATM):c.15T>G (p.Leu5=)
|
rs1357506783
|
|
NM_000051.4(ATM):c.15del (p.Asn6fs)
|
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1600C>T (p.Pro534Ser)
|
|
|
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg)
|
rs587782212
|
|
NM_000051.4(ATM):c.1602T>A (p.Pro534=)
|
|
|
NM_000051.4(ATM):c.1602T>C (p.Pro534=)
|
rs1555071275
|
|
NM_000051.4(ATM):c.1605A>C (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1605A>G (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1605A>T (p.Ser535=)
|
rs1060504290
|
|
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg)
|
rs2135328461
|
|
NM_000051.4(ATM):c.1607+10G>A
|
rs1555071298
|
|
NM_000051.4(ATM):c.1607+10G>C
|
rs1555071298
|
|
NM_000051.4(ATM):c.1607+10G>T
|
rs1555071298
|
|
NM_000051.4(ATM):c.1607+10_1607+11delinsTT
|
|
|
NM_000051.4(ATM):c.1607+11C>A
|
rs955225694
|
|
NM_000051.4(ATM):c.1607+11C>T
|
|
|
NM_000051.4(ATM):c.1607+12A>G
|
|
|
NM_000051.4(ATM):c.1607+13T>C
|
rs1057522249
|
|
NM_000051.4(ATM):c.1607+14G>A
|
|
|
NM_000051.4(ATM):c.1607+15C>T
|
|
|
NM_000051.4(ATM):c.1607+162A>G
|
|
|
NM_000051.4(ATM):c.1607+18T>C
|
|
|
NM_000051.4(ATM):c.1607+18del
|
rs1259647838
|
|
NM_000051.4(ATM):c.1607+19A>C
|
|
|
NM_000051.4(ATM):c.1607+1G>A
|
rs772926890
|
|
NM_000051.4(ATM):c.1607+1del
|
|
|
NM_000051.4(ATM):c.1607+20T>C
|
rs1555071308
|
|
NM_000051.4(ATM):c.1607+21_1607+29del
|
|
|
NM_000051.4(ATM):c.1607+2T>A
|
|
|
NM_000051.4(ATM):c.1607+2dup
|
rs2135328592
|
|
NM_000051.4(ATM):c.1607+3A>G
|
rs2080122454
|
|
NM_000051.4(ATM):c.1607+48AC[5]
|
|
|
NM_000051.4(ATM):c.1607+4A>G
|
|
|
NM_000051.4(ATM):c.1607+5G>A
|
rs766535949
|
|
NM_000051.4(ATM):c.1607+7T>C
|
rs2135328716
|
|
NM_000051.4(ATM):c.1607+7T>G
|
|
|
NM_000051.4(ATM):c.1607+8C>T
|
rs2135328749
|
|
NM_000051.4(ATM):c.1607+9A>T
|
rs1028538482
|
|
NM_000051.4(ATM):c.1607G>C (p.Cys536Ser)
|
|
|
NM_000051.4(ATM):c.1607G>T (p.Cys536Phe)
|
rs769788188
|
|
NM_000051.4(ATM):c.1608-12G>C
|
rs749269085
|
|
NM_000051.4(ATM):c.1608-13T>C
|
|
|
NM_000051.4(ATM):c.1608-16C>A
|
|
|
NM_000051.4(ATM):c.1608-16C>G
|
rs2080161173
|
|
NM_000051.4(ATM):c.1608-16C>T
|
rs2080161173
|
|
NM_000051.4(ATM):c.1608-18T>C
|
|
|
NM_000051.4(ATM):c.1608-19G>C
|
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1608-1G>C
|
rs1565385010
|
|
NM_000051.4(ATM):c.1608-20T>C
|
|
|
NM_000051.4(ATM):c.1608-2A>C
|
rs2135338498
|
|
NM_000051.4(ATM):c.1608-2A>G
|
rs2135338498
|
|
NM_000051.4(ATM):c.1608-4A>G
|
rs2080162473
|
|
NM_000051.4(ATM):c.1608-5T>C
|
|
|
NM_000051.4(ATM):c.1608-6T>C
|
|
|
NM_000051.4(ATM):c.1608-6T>G
|
rs2080162256
|
|
NM_000051.4(ATM):c.1608-7G>A
|
rs1555071656
|
|
NM_000051.4(ATM):c.1608-7G>T
|
rs1555071656
|
|
NM_000051.4(ATM):c.1608-8del
|
rs1064794419
|
|
NM_000051.4(ATM):c.1608T>A (p.Cys536Ter)
|
|
|
NM_000051.4(ATM):c.1608T>C (p.Cys536=)
|
rs2080162888
|
|
NM_000051.4(ATM):c.1608T>G (p.Cys536Trp)
|
|
|
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser)
|
rs1165590160
|
|
NM_000051.4(ATM):c.1610C>A (p.Pro537His)
|
rs587782463
|
|
NM_000051.4(ATM):c.1610C>G (p.Pro537Arg)
|
rs587782463
|
|
NM_000051.4(ATM):c.1610C>T (p.Pro537Leu)
|
rs587782463
|
|
NM_000051.4(ATM):c.1611T>C (p.Pro537=)
|
rs2135338657
|
|
NM_000051.4(ATM):c.1612G>C (p.Ala538Pro)
|
rs2080163261
|
|
NM_000051.4(ATM):c.1612_1613delinsTT (p.Ala538Leu)
|
rs2080163350
|
|
NM_000051.4(ATM):c.1613C>T (p.Ala538Val)
|
rs1565385040
|
|
NM_000051.4(ATM):c.1614_1645del (p.Val539fs)
|
rs2135338847
|
|
NM_000051.4(ATM):c.1617A>G (p.Val539=)
|
rs1060504300
|
|
NM_000051.4(ATM):c.1617dup (p.Cys540fs)
|
|
|
NM_000051.4(ATM):c.1619_1620delinsAA (p.Cys540Ter)
|
|
|
NM_000051.4(ATM):c.1620C>T (p.Cys540=)
|
rs1555071676
|
|
NM_000051.4(ATM):c.1621T>C (p.Cys541Arg)
|
rs2080164132
|
|
NM_000051.4(ATM):c.1621T>G (p.Cys541Gly)
|
rs2080164132
|
|
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr)
|
rs1555071682
|
|
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.1625T>G (p.Leu542Trp)
|
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
|
|
|
NM_000051.4(ATM):c.1627A>G (p.Thr543Ala)
|
|
|
NM_000051.4(ATM):c.1627A>T (p.Thr543Ser)
|
rs2080165023
|
|
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile)
|
rs772874616
|
|
NM_000051.4(ATM):c.1633G>A (p.Ala545Thr)
|
rs1565385130
|
|
NM_000051.4(ATM):c.1633G>C (p.Ala545Pro)
|
rs1565385130
|
|
NM_000051.4(ATM):c.1635A>C (p.Ala545=)
|
rs1555071712
|
|
NM_000051.4(ATM):c.1635A>G (p.Ala545=)
|
rs1555071712
|
|
NM_000051.4(ATM):c.1635dup (p.Leu546fs)
|
rs2135339476
|
|
NM_000051.4(ATM):c.1636C>A (p.Leu546Met)
|
rs2227924
|
|
NM_000051.4(ATM):c.1636C>T (p.Leu546=)
|
rs2227924
|
|
NM_000051.4(ATM):c.1637T>C (p.Leu546Pro)
|
rs1565385177
|
|
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
|
|
|
NM_000051.4(ATM):c.1638G>C (p.Leu546=)
|
|
|
NM_000051.4(ATM):c.1638G>T (p.Leu546=)
|
|
|
NM_000051.4(ATM):c.1639A>G (p.Thr547Ala)
|
rs1591527306
|
|
NM_000051.4(ATM):c.1640C>T (p.Thr547Ile)
|
rs786203572
|
|
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)
|
rs878853486
|
|
NM_000051.4(ATM):c.1643_1656del (p.Thr548fs)
|
rs1591527327
|
|
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
|
|
|
NM_000051.4(ATM):c.1644del (p.Ser549fs)
|
rs1591527355
|
|
NM_000051.4(ATM):c.1645A>G (p.Ser549Gly)
|
|
|
NM_000051.4(ATM):c.1645A>T (p.Ser549Cys)
|
|
|
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn)
|
rs2080166953
|
|
NM_000051.4(ATM):c.1646G>C (p.Ser549Thr)
|
|
|
NM_000051.4(ATM):c.1647T>C (p.Ser549=)
|
|
|
NM_000051.4(ATM):c.1649T>C (p.Ile550Thr)
|
rs864622285
|
|
NM_000051.4(ATM):c.1649T>G (p.Ile550Arg)
|
rs864622285
|
|
NM_000051.4(ATM):c.164T>G (p.Leu55Trp)
|
rs1565344888
|
|
NM_000051.4(ATM):c.164del (p.Tyr54_Leu55insTer)
|
|
|
NM_000051.4(ATM):c.1650A>C (p.Ile550=)
|
|
|
NM_000051.4(ATM):c.1650A>G (p.Ile550Met)
|
rs1060501606
|
|
NM_000051.4(ATM):c.1650A>T (p.Ile550=)
|
|
|
NM_000051.4(ATM):c.1651G>A (p.Val551Ile)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1653T>C (p.Val551=)
|
|
|
NM_000051.4(ATM):c.1653del (p.Pro552fs)
|
rs2080167483
|
|
NM_000051.4(ATM):c.1654C>G (p.Pro552Ala)
|
|
|
NM_000051.4(ATM):c.1655C>A (p.Pro552Gln)
|
|
|
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg)
|
rs2135340121
|
|
NM_000051.4(ATM):c.1655C>T (p.Pro552Leu)
|
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
NM_000051.4(ATM):c.1656A>C (p.Pro552=)
|
|
|
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg)
|
rs1591527438
|
|
NM_000051.4(ATM):c.1658G>A (p.Gly553Glu)
|
|
|
NM_000051.4(ATM):c.1658del (p.Gly553fs)
|
rs1064796556
|
|
NM_000051.4(ATM):c.165G>C (p.Leu55Phe)
|
rs1555054230
|
|
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro)
|
rs1060788
|
|
NM_000051.4(ATM):c.1660A>G (p.Thr554Ala)
|
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
NM_000051.4(ATM):c.1661C>A (p.Thr554Lys)
|
rs1060501694
|
|
NM_000051.4(ATM):c.1662G>C (p.Thr554=)
|
rs764646531
|
|
NM_000051.4(ATM):c.1663G>T (p.Val555Leu)
|
rs2080168708
|
|
NM_000051.4(ATM):c.1663_1669del (p.Val555fs)
|
|
|
NM_000051.4(ATM):c.1665A>G (p.Val555=)
|
rs754367168
|
|
NM_000051.4(ATM):c.1666A>G (p.Lys556Glu)
|
|
|
NM_000051.4(ATM):c.1668_1669del (p.Lys556fs)
|
|
|
NM_000051.4(ATM):c.1668_2466+1284del
|
|
|
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.1672G>A (p.Gly558Arg)
|
|
|
NM_000051.4(ATM):c.1672G>T (p.Gly558Ter)
|
|
|
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)
|
|
|
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1673G>T (p.Gly558Val)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1676T>C (p.Ile559Thr)
|
rs2080169884
|
|
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)
|
rs1190611996
|
|
NM_000051.4(ATM):c.1678G>A (p.Glu560Lys)
|
|
|
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly)
|
rs762476611
|
|
NM_000051.4(ATM):c.1679A>T (p.Glu560Val)
|
rs762476611
|
|
NM_000051.4(ATM):c.1680G>A (p.Glu560=)
|
rs1555071815
|
|
NM_000051.4(ATM):c.1681C>G (p.Gln561Glu)
|
rs2080170537
|
|
NM_000051.4(ATM):c.1681C>T (p.Gln561Ter)
|
|
|
NM_000051.4(ATM):c.1682A>C (p.Gln561Pro)
|
|
|
NM_000051.4(ATM):c.1683A>G (p.Gln561=)
|
rs876660110
|
|
NM_000051.4(ATM):c.1683A>T (p.Gln561His)
|
|
|
NM_000051.4(ATM):c.1684A>G (p.Asn562Asp)
|
|
|
NM_000051.4(ATM):c.1685A>C (p.Asn562Thr)
|
rs368209025
|
|
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile)
|
rs368209025
|
|
NM_000051.4(ATM):c.1685del (p.Asn562fs)
|
|
|
NM_000051.4(ATM):c.1686T>C (p.Asn562=)
|
rs1131691152
|
|
NM_000051.4(ATM):c.1688T>C (p.Met563Thr)
|
|
|
NM_000051.4(ATM):c.1689G>A (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1689G>C (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1689G>T (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1689del (p.Met563fs)
|
|
|
NM_000051.4(ATM):c.168T>C (p.Asn56=)
|
rs1591447362
|
|
NM_000051.4(ATM):c.168T>G (p.Asn56Lys)
|
rs1591447362
|
|
NM_000051.4(ATM):c.1691G>T (p.Cys564Phe)
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
NM_000051.4(ATM):c.1692T>G (p.Cys564Trp)
|
|
|
NM_000051.4(ATM):c.1692_1693del (p.Cys564_Glu565delinsTer)
|
rs2080171293
|
|
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys)
|
rs2080171822
|
|
NM_000051.4(ATM):c.1695del (p.Glu565_Val566insTer)
|
rs2135341489
|
|
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)
|
|
|
NM_000051.4(ATM):c.1697T>C (p.Val566Ala)
|
rs2080172143
|
|
NM_000051.4(ATM):c.1697_1706del (p.Val566fs)
|
rs1064794468
|
|
NM_000051.4(ATM):c.1698A>G (p.Val566=)
|
rs2135341613
|
|
NM_000051.4(ATM):c.1699A>C (p.Asn567His)
|
|
|
NM_000051.4(ATM):c.1699A>T (p.Asn567Tyr)
|
rs2135341638
|
|
NM_000051.4(ATM):c.169T>C (p.Trp57Arg)
|
rs1555054238
|
|
NM_000051.4(ATM):c.169T>G (p.Trp57Gly)
|
|
|
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.1702A>T (p.Arg568Ter)
|
rs876659425
|
|
NM_000051.4(ATM):c.1702del (p.Arg568fs)
|
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser)
|
rs878853488
|
|
NM_000051.4(ATM):c.1705A>T (p.Ser569Cys)
|
|
|
NM_000051.4(ATM):c.1707C>A (p.Ser569Arg)
|
|
|
NM_000051.4(ATM):c.1707C>G (p.Ser569Arg)
|
|
|
NM_000051.4(ATM):c.1708T>A (p.Phe570Ile)
|
|
|
NM_000051.4(ATM):c.1712C>A (p.Ser571Tyr)
|
|
|
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile)
|
rs749216212
|
|
NM_000051.4(ATM):c.1714T>G (p.Leu572Val)
|
rs749216212
|
|
NM_000051.4(ATM):c.1715_1716insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCTTTCTTT (p.Ser571_Leu572insPhePhePhePhePhePhePheXaaXaaXaaXaaTyrMetCysHisAlaGlyAlaLeuHisProLeuMetCysHisLeuAlaLeuGlyIleSerProAsnAlaIleLeuSer)
|
|
|
NM_000051.4(ATM):c.1718dup (p.Glu574fs)
|
|
|
NM_000051.4(ATM):c.1719G>A (p.Lys573=)
|
|
|
NM_000051.4(ATM):c.171G>A (p.Trp57Ter)
|
|
|
NM_000051.4(ATM):c.171G>T (p.Trp57Cys)
|
rs1555054249
|
|
NM_000051.4(ATM):c.1720G>C (p.Glu574Gln)
|
rs770911276
|
|
NM_000051.4(ATM):c.1721A>C (p.Glu574Ala)
|
rs1565385690
|
|
NM_000051.4(ATM):c.1721A>G (p.Glu574Gly)
|
|
|
NM_000051.4(ATM):c.1722A>C (p.Glu574Asp)
|
rs372334891
|
|
NM_000051.4(ATM):c.1722A>G (p.Glu574=)
|
rs372334891
|
|
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr)
|
rs1565385720
|
|
NM_000051.4(ATM):c.1723T>C (p.Ser575Pro)
|
|
|
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter)
|
rs2135342200
|
|
NM_000051.4(ATM):c.1724C>G (p.Ser575Ter)
|
|
|
NM_000051.4(ATM):c.1727T>A (p.Ile576Lys)
|
|
|
NM_000051.4(ATM):c.1729A>C (p.Met577Leu)
|
rs1555071919
|
|
NM_000051.4(ATM):c.1729A>G (p.Met577Val)
|
rs1555071919
|
|
NM_000051.4(ATM):c.172G>A (p.Asp58Asn)
|
rs876660661
|
|
NM_000051.4(ATM):c.172G>C (p.Asp58His)
|
rs876660661
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
NM_000051.4(ATM):c.172del (p.Asp58fs)
|
rs1555054243
|
|
NM_000051.4(ATM):c.1730T>C (p.Met577Thr)
|
rs1591527919
|
|
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)
|
|
|
NM_000051.4(ATM):c.1731G>T (p.Met577Ile)
|
|
|
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln)
|
rs1555071926
|
|
NM_000051.4(ATM):c.1732A>G (p.Lys578Glu)
|
|
|
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg)
|
rs1266358260
|
|
NM_000051.4(ATM):c.1734A>G (p.Lys578=)
|
rs1555071939
|
|
NM_000051.4(ATM):c.1734A>T (p.Lys578Asn)
|
rs1555071939
|
|
NM_000051.4(ATM):c.1735T>C (p.Trp579Arg)
|
rs1591527984
|
|
NM_000051.4(ATM):c.1735T>G (p.Trp579Gly)
|
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe)
|
rs1555071952
|
|
NM_000051.4(ATM):c.1739T>A (p.Leu580His)
|
rs890554688
|
|
NM_000051.4(ATM):c.1739T>C (p.Leu580Pro)
|
rs890554688
|
|
NM_000051.4(ATM):c.173A>G (p.Asp58Gly)
|
rs1378701359
|
|
NM_000051.4(ATM):c.173A>T (p.Asp58Val)
|
rs1378701359
|
|
NM_000051.4(ATM):c.1740C>G (p.Leu580=)
|
rs1060504269
|
|
NM_000051.4(ATM):c.1740C>T (p.Leu580=)
|
rs1060504269
|
|
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs)
|
rs1131691151
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1743A>G (p.Leu581=)
|
|
|
NM_000051.4(ATM):c.1745T>A (p.Phe582Tyr)
|
rs1064794747
|
|
NM_000051.4(ATM):c.1745T>G (p.Phe582Cys)
|
|
|
NM_000051.4(ATM):c.1745_1746insTAAATGGCTCTTATT (p.Phe582_Tyr583insLysTrpLeuLeuPhe)
|
|
|
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)
|
rs1565385883
|
|
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu)
|
rs145629926
|
|
NM_000051.4(ATM):c.1747T>C (p.Tyr583His)
|
rs2135342937
|
|
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser)
|
rs587780614
|
|
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)
|
rs1064796083
|
|
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)
|
rs2080176523
|
|
NM_000051.4(ATM):c.1751A>C (p.Gln584Pro)
|
rs876660149
|
|
NM_000051.4(ATM):c.1751A>G (p.Gln584Arg)
|
rs876660149
|
|
NM_000051.4(ATM):c.1752G>A (p.Gln584=)
|
rs2135343108
|
|
NM_000051.4(ATM):c.1752G>C (p.Gln584His)
|
|
|
NM_000051.4(ATM):c.1752G>T (p.Gln584His)
|
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1754dup (p.Leu585fs)
|
rs1555072012
|
|
NM_000051.4(ATM):c.1756G>A (p.Glu586Lys)
|
rs1565386004
|
|
NM_000051.4(ATM):c.1756G>C (p.Glu586Gln)
|
rs1565386004
|
|
NM_000051.4(ATM):c.1757A>T (p.Glu586Val)
|
rs587781907
|
|
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)
|
rs1555072017
|
|
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser)
|
rs879254227
|
|
NM_000051.4(ATM):c.1759G>C (p.Gly587Arg)
|
rs879254227
|
|
NM_000051.4(ATM):c.1760G>A (p.Gly587Asp)
|
rs1060501553
|
|
NM_000051.4(ATM):c.1760G>T (p.Gly587Val)
|
rs1060501553
|
|
NM_000051.4(ATM):c.1761T>A (p.Gly587=)
|
|
|
NM_000051.4(ATM):c.1761T>C (p.Gly587=)
|
|
|
NM_000051.4(ATM):c.1762del (p.Asp588fs)
|
rs2135343498
|
|
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly)
|
rs2080177696
|
|
NM_000051.4(ATM):c.1764C>G (p.Asp588Glu)
|
rs2135343562
|
|
NM_000051.4(ATM):c.1764C>T (p.Asp588=)
|
|
|
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
|
|
|
NM_000051.4(ATM):c.1768G>T (p.Glu590Ter)
|
rs876659283
|
|
NM_000051.4(ATM):c.176C>T (p.Ala59Val)
|
rs760880388
|
|
NM_000051.4(ATM):c.1772A>G (p.Asn591Ser)
|
rs1064794804
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
NM_000051.4(ATM):c.1774A>G (p.Ser592Gly)
|
rs1060501558
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
NM_000051.4(ATM):c.1776C>A (p.Ser592Arg)
|
rs1057524304
|
|
NM_000051.4(ATM):c.1776C>T (p.Ser592=)
|
rs1057524304
|
|
NM_000051.4(ATM):c.1778C>G (p.Thr593Arg)
|
rs2135343992
|
|
NM_000051.4(ATM):c.1778C>T (p.Thr593Ile)
|
rs2135343992
|
|
NM_000051.4(ATM):c.1779A>C (p.Thr593=)
|
rs876660493
|
|
NM_000051.4(ATM):c.1779A>G (p.Thr593=)
|
rs876660493
|
|
NM_000051.4(ATM):c.1780G>A (p.Glu594Lys)
|
|
|
NM_000051.4(ATM):c.1780G>T (p.Glu594Ter)
|
rs2080178937
|
|
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
|
|
|
NM_000051.4(ATM):c.1782A>G (p.Glu594=)
|
rs876660494
|
|
NM_000051.4(ATM):c.1783G>A (p.Val595Met)
|
rs2080179332
|
|
NM_000051.4(ATM):c.1783_1802+91del
|
rs1555072063
|
|
NM_000051.4(ATM):c.1785G>T (p.Val595=)
|
rs2080179445
|
|
NM_000051.4(ATM):c.1786C>A (p.Pro596Thr)
|
|
|
NM_000051.4(ATM):c.1786C>G (p.Pro596Ala)
|
|
|
NM_000051.4(ATM):c.1787C>T (p.Pro596Leu)
|
|
|
NM_000051.4(ATM):c.1788T>C (p.Pro596=)
|
|
|
NM_000051.4(ATM):c.1788T>G (p.Pro596=)
|
|
|
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala)
|
rs1555072070
|
|
NM_000051.4(ATM):c.1789C>T (p.Pro597Ser)
|
|
|
NM_000051.4(ATM):c.178G>A (p.Val60Ile)
|
rs1166668199
|
|
NM_000051.4(ATM):c.178G>C (p.Val60Leu)
|
rs1166668199
|
|
NM_000051.4(ATM):c.1790C>A (p.Pro597Gln)
|
|
|
NM_000051.4(ATM):c.1791A>G (p.Pro597=)
|
rs2135344323
|
|
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu)
|
rs730881343
|
|
NM_000051.4(ATM):c.1793T>C (p.Ile598Thr)
|
rs1591528409
|
|
NM_000051.4(ATM):c.1794T>C (p.Ile598=)
|
rs786201830
|
|
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe)
|
rs1312313805
|
|
NM_000051.4(ATM):c.1796T>C (p.Leu599Pro)
|
rs1555072082
|
|
NM_000051.4(ATM):c.1798C>A (p.His600Asn)
|
rs1555072089
|
|
NM_000051.4(ATM):c.1798C>G (p.His600Asp)
|
rs1555072089
|
|
NM_000051.4(ATM):c.1798C>T (p.His600Tyr)
|
rs1555072089
|
|
NM_000051.4(ATM):c.1799A>G (p.His600Arg)
|
rs2080180530
|
|
NM_000051.4(ATM):c.1799_1802+5del
|
rs781244480
|
|
NM_000051.4(ATM):c.17_20del (p.Asn6fs)
|
|
|
NM_000051.4(ATM):c.17dup (p.Asn6fs)
|
rs2135004405
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
NM_000051.4(ATM):c.1800del (p.His600fs)
|
|
|
NM_000051.4(ATM):c.1801A>C (p.Ser601Arg)
|
|
|
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly)
|
rs1591528484
|
|
NM_000051.4(ATM):c.1802+12T>G
|
|
|
NM_000051.4(ATM):c.1802+13C>T
|
rs1555072105
|
|
NM_000051.4(ATM):c.1802+14A>G
|
rs2135344920
|
|
NM_000051.4(ATM):c.1802+15T>C
|
rs2135344940
|
|
NM_000051.4(ATM):c.1802+16T>C
|
rs995327985
|
|
NM_000051.4(ATM):c.1802+16del
|
rs1064794466
|
|
NM_000051.4(ATM):c.1802+18G>A
|
|
|
NM_000051.4(ATM):c.1802+18G>C
|
rs1168327781
|
|
NM_000051.4(ATM):c.1802+19C>T
|
|
|
NM_000051.4(ATM):c.1802+1G>A
|
|
|
NM_000051.4(ATM):c.1802+1G>T
|
rs2135344665
|
|
NM_000051.4(ATM):c.1802+1del
|
|
|
NM_000051.4(ATM):c.1802+20A>T
|
rs1009750697
|
|
NM_000051.4(ATM):c.1802+28G>T
|
|
|
NM_000051.4(ATM):c.1802+33_1802+45del
|
|
|
NM_000051.4(ATM):c.1802+35_1802+36del
|
rs749339972
|
|
NM_000051.4(ATM):c.1802+36dup
|
|
|
NM_000051.4(ATM):c.1802+3A>C
|
|
|
NM_000051.4(ATM):c.1802+3A>G
|
rs1591528500
|
|
NM_000051.4(ATM):c.1802+3A>T
|
rs1591528500
|
|
NM_000051.4(ATM):c.1802+5T>C
|
|
|
NM_000051.4(ATM):c.1802+8A>G
|
rs766706104
|
|
NM_000051.4(ATM):c.1802+8A>T
|
rs766706104
|
|
NM_000051.4(ATM):c.1802+9A>G
|
rs2135344806
|
|
NM_000051.4(ATM):c.1802G>A (p.Ser601Asn)
|
rs763402339
|
|
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr)
|
rs763402339
|
|
NM_000051.4(ATM):c.1803-10T>C
|
rs1555072423
|
|
NM_000051.4(ATM):c.1803-10_1803-5del
|
rs1591530643
|
|
NM_000051.4(ATM):c.1803-15T>C
|
rs2080225396
|
|
NM_000051.4(ATM):c.1803-15del
|
rs1420491228
|
|
NM_000051.4(ATM):c.1803-18T>C
|
|
|
NM_000051.4(ATM):c.1803-1G>A
|
|
|
NM_000051.4(ATM):c.1803-1G>C
|
|
|
NM_000051.4(ATM):c.1803-20C>T
|
|
|
NM_000051.4(ATM):c.1803-270T>G
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1803-35G>C
|
|
|
NM_000051.4(ATM):c.1803-4G>A
|
rs876659300
|
|
NM_000051.4(ATM):c.1803-4G>T
|
|
|
NM_000051.4(ATM):c.1803-5T>C
|
rs786203034
|
|
NM_000051.4(ATM):c.1803-7T>C
|
rs2135352285
|
|
NM_000051.4(ATM):c.1803-8C>A
|
rs778937998
|
|
NM_000051.4(ATM):c.1803-9T>C
|
rs2135352230
|
|
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp)
|
rs2080226309
|
|
NM_000051.4(ATM):c.1804_1808dup (p.Phe603fs)
|
|
|
NM_000051.4(ATM):c.1805A>C (p.Asn602Thr)
|
rs1173305253
|
|
NM_000051.4(ATM):c.1808T>G (p.Phe603Cys)
|
rs2135352513
|
|
NM_000051.4(ATM):c.180T>G (p.Val60=)
|
rs786201375
|
|
NM_000051.4(ATM):c.1811C>G (p.Pro604Arg)
|
|
|
NM_000051.4(ATM):c.1811C>T (p.Pro604Leu)
|
rs1565387411
|
|
NM_000051.4(ATM):c.1811del (p.Pro604fs)
|
|
|
NM_000051.4(ATM):c.1813C>G (p.His605Asp)
|
rs786202928
|
|
NM_000051.4(ATM):c.1813C>T (p.His605Tyr)
|
rs786202928
|
|
NM_000051.4(ATM):c.1813del (p.His605fs)
|
rs2135352736
|
|
NM_000051.4(ATM):c.1814A>C (p.His605Pro)
|
rs771877351
|
|
NM_000051.4(ATM):c.1814A>T (p.His605Leu)
|
|
|
NM_000051.4(ATM):c.1817T>C (p.Leu606Pro)
|
|
|
NM_000051.4(ATM):c.1817_1818del (p.Leu606fs)
|
rs2135352900
|
|
NM_000051.4(ATM):c.1818T>G (p.Leu606=)
|
rs2080227232
|
|
NM_000051.4(ATM):c.1819G>A (p.Val607Ile)
|
rs878853489
|
|
NM_000051.4(ATM):c.1819G>T (p.Val607Leu)
|
rs878853489
|
|
NM_000051.4(ATM):c.181T>A (p.Phe61Ile)
|
rs2078825833
|
|
NM_000051.4(ATM):c.1821A>C (p.Val607=)
|
rs876660362
|
|
NM_000051.4(ATM):c.1821A>G (p.Val607=)
|
rs876660362
|
|
NM_000051.4(ATM):c.1822C>T (p.Leu608=)
|
rs1591530779
|
|
NM_000051.4(ATM):c.1824G>A (p.Leu608=)
|
|
|
NM_000051.4(ATM):c.1825G>A (p.Glu609Lys)
|
rs779780896
|
|
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)
|
rs779780896
|
|
NM_000051.4(ATM):c.1826A>T (p.Glu609Val)
|
rs2080227710
|
|
NM_000051.4(ATM):c.1827G>A (p.Glu609=)
|
rs1555072460
|
|
NM_000051.4(ATM):c.1827G>T (p.Glu609Asp)
|
rs1555072460
|
|
NM_000051.4(ATM):c.1828A>G (p.Lys610Glu)
|
|
|
NM_000051.4(ATM):c.1829A>G (p.Lys610Arg)
|
rs1555072464
|
|
NM_000051.4(ATM):c.1829A>T (p.Lys610Ile)
|
|
|
NM_000051.4(ATM):c.182T>C (p.Phe61Ser)
|
rs786203063
|
|
NM_000051.4(ATM):c.1830A>C (p.Lys610Asn)
|
|
|
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
|
|
|
NM_000051.4(ATM):c.1833T>A (p.Ile611=)
|
rs2135353362
|
|
NM_000051.4(ATM):c.1833T>C (p.Ile611=)
|
|
|
NM_000051.4(ATM):c.1834C>A (p.Leu612Ile)
|
|
|
NM_000051.4(ATM):c.1834C>G (p.Leu612Val)
|
rs747242300
|
|
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)
|
rs747242300
|
|
NM_000051.4(ATM):c.1835T>A (p.Leu612His)
|
rs1555072474
|
|
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro)
|
rs1555072474
|
|
NM_000051.4(ATM):c.1836T>A (p.Leu612=)
|
rs1309539769
|
|
NM_000051.4(ATM):c.1837G>A (p.Val613Met)
|
rs200124136
|
|
NM_000051.4(ATM):c.1837G>C (p.Val613Leu)
|
rs200124136
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
NM_000051.4(ATM):c.1838T>C (p.Val613Ala)
|
rs762018538
|
|
NM_000051.4(ATM):c.1838_1839del (p.Val613fs)
|
rs1591530854
|
|
NM_000051.4(ATM):c.1838del (p.Val613fs)
|
rs2135353661
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
NM_000051.4(ATM):c.1839G>C (p.Val613=)
|
rs2135353682
|
|
NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer)
|
rs1555072480
|
|
NM_000051.4(ATM):c.183del (p.Phe61fs)
|
rs2135014976
|
|
NM_000051.4(ATM):c.1840_1841del (p.Leu615fs)
|
rs2135353714
|
|
NM_000051.4(ATM):c.1841G>A (p.Ser614Asn)
|
|
|
NM_000051.4(ATM):c.1841G>T (p.Ser614Ile)
|
rs770377706
|
|
NM_000051.4(ATM):c.1842T>A (p.Ser614Arg)
|
rs1060501523
|
|
NM_000051.4(ATM):c.1843C>G (p.Leu615Val)
|
rs1380546088
|
|
NM_000051.4(ATM):c.1843C>T (p.Leu615Phe)
|
|
|
NM_000051.4(ATM):c.1844T>A (p.Leu615His)
|
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.1845C>T (p.Leu615=)
|
rs1349398596
|
|
NM_000051.4(ATM):c.1845_1848dup (p.Met617fs)
|
rs2080229346
|
|
NM_000051.4(ATM):c.1846A>G (p.Thr616Ala)
|
rs587780615
|
|
NM_000051.4(ATM):c.1847C>G (p.Thr616Ser)
|
|
|
NM_000051.4(ATM):c.1847C>T (p.Thr616Ile)
|
rs533129312
|
|
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
|
|
|
NM_000051.4(ATM):c.1847dup (p.Met617fs)
|
rs1591530991
|
|
NM_000051.4(ATM):c.1848T>C (p.Thr616=)
|
rs1045549048
|
|
NM_000051.4(ATM):c.1849A>G (p.Met617Val)
|
rs1555072530
|
|
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+14A>G
|
rs2135015612
|
|
NM_000051.4(ATM):c.185+16T>C
|
rs1343329254
|
|
NM_000051.4(ATM):c.185+16T>G
|
|
|
NM_000051.4(ATM):c.185+18A>C
|
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
NM_000051.4(ATM):c.185+273_185+276del
|
rs145084494
|
|
NM_000051.4(ATM):c.185+3A>G
|
rs1372755571
|
|
NM_000051.4(ATM):c.185+4T>G
|
rs1060501685
|
|
NM_000051.4(ATM):c.185+6C>G
|
rs1555054299
|
|
NM_000051.4(ATM):c.185+6C>T
|
rs1555054299
|
|
NM_000051.4(ATM):c.185+9T>G
|
|
|
NM_000051.4(ATM):c.1851G>A (p.Met617Ile)
|
|
|
NM_000051.4(ATM):c.1852A>G (p.Lys618Glu)
|
rs1555072538
|
|
NM_000051.4(ATM):c.1856A>C (p.Asn619Thr)
|
|
|
NM_000051.4(ATM):c.1856A>G (p.Asn619Ser)
|
rs1591531036
|
|
NM_000051.4(ATM):c.1856A>T (p.Asn619Ile)
|
|
|
NM_000051.4(ATM):c.1856del (p.Asn619fs)
|
rs1057517300
|
|
NM_000051.4(ATM):c.1857del (p.Cys620fs)
|
rs2135354155
|
|
NM_000051.4(ATM):c.1858T>A (p.Cys620Ser)
|
rs2080230578
|
|
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)
|
rs2080230578
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
|
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
NM_000051.4(ATM):c.185G>A (p.Arg62Lys)
|
|
|
NM_000051.4(ATM):c.186-10T>C
|
rs773957101
|
|
NM_000051.4(ATM):c.186-11T>C
|
|
|
NM_000051.4(ATM):c.186-13T>A
|
rs2135032350
|
|
NM_000051.4(ATM):c.186-14T>A
|
|
|
NM_000051.4(ATM):c.186-18C>T
|
rs1410616583
|
|
NM_000051.4(ATM):c.186-1G>T
|
|
|
NM_000051.4(ATM):c.186-1del
|
|
|
NM_000051.4(ATM):c.186-2A>G
|
rs2078881350
|
|
NM_000051.4(ATM):c.186-40A>G
|
|
|
NM_000051.4(ATM):c.186-4G>C
|
|
|
NM_000051.4(ATM):c.186-6T>C
|
rs2078881202
|
|
NM_000051.4(ATM):c.186-7C>G
|
rs55674039
|
|
NM_000051.4(ATM):c.186-8del
|
rs1555055031
|
|
NM_000051.4(ATM):c.1862A>G (p.Lys621Arg)
|
rs1591531052
|
|
NM_000051.4(ATM):c.1866T>C (p.Ala622=)
|
rs2135354414
|
|
NM_000051.4(ATM):c.1868C>G (p.Ala623Gly)
|
rs2135354486
|
|
NM_000051.4(ATM):c.1868C>T (p.Ala623Val)
|
|
|
NM_000051.4(ATM):c.1869A>G (p.Ala623=)
|
rs1591531055
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
NM_000051.4(ATM):c.1870A>C (p.Met624Leu)
|
rs863224557
|
|
NM_000051.4(ATM):c.1871T>C (p.Met624Thr)
|
rs2080231163
|
|
NM_000051.4(ATM):c.1872G>C (p.Met624Ile)
|
rs1060501530
|
|
NM_000051.4(ATM):c.1873A>T (p.Asn625Tyr)
|
rs2080231346
|
|
NM_000051.4(ATM):c.1874A>G (p.Asn625Ser)
|
|
|
NM_000051.4(ATM):c.1876T>G (p.Phe626Val)
|
|
|
NM_000051.4(ATM):c.1877_1880del (p.Phe626fs)
|
|
|
NM_000051.4(ATM):c.1880del (p.Phe627fs)
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1881C>T (p.Phe627=)
|
rs1555072574
|
|
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)
|
rs2135354813
|
|
NM_000051.4(ATM):c.1884A>G (p.Gln628=)
|
rs1555072578
|
|
NM_000051.4(ATM):c.1886G>C (p.Ser629Thr)
|
rs2080232076
|
|
NM_000051.4(ATM):c.1889T>C (p.Val630Ala)
|
rs587782226
|
|
NM_000051.4(ATM):c.1890G>T (p.Val630=)
|
rs1555072586
|
|
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu)
|
rs756782634
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
NM_000051.4(ATM):c.1896A>G (p.Glu632=)
|
rs2135355169
|
|
NM_000051.4(ATM):c.1897T>C (p.Cys633Arg)
|
rs1555072606
|
|
NM_000051.4(ATM):c.1898+10C>G
|
rs199570442
|
|
NM_000051.4(ATM):c.1898+16A>G
|
rs2080234530
|
|
NM_000051.4(ATM):c.1898+16A>T
|
|
|
NM_000051.4(ATM):c.1898+18G>A
|
rs2135355669
|
|
NM_000051.4(ATM):c.1898+19C>G
|
|
|
NM_000051.4(ATM):c.1898+19C>T
|
|
|
NM_000051.4(ATM):c.1898+1G>A
|
rs758325274
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
NM_000051.4(ATM):c.1898+20T>G
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1898+3_1898+4del
|
rs879254094
|
|
NM_000051.4(ATM):c.1898+4T>A
|
rs1591531225
|
|
NM_000051.4(ATM):c.1898+5G>A
|
rs1372634189
|
|
NM_000051.4(ATM):c.1898+5_1898+6delinsAA
|
rs2135355386
|
|
NM_000051.4(ATM):c.1898+5del
|
rs2135355372
|
|
NM_000051.4(ATM):c.1898+8A>T
|
|
|
NM_000051.4(ATM):c.1898G>A (p.Cys633Tyr)
|
rs750371239
|
|
NM_000051.4(ATM):c.1898G>C (p.Cys633Ser)
|
|
|
NM_000051.4(ATM):c.1899-10T>A
|
|
|
NM_000051.4(ATM):c.1899-11C>G
|
rs730881282
|
|
NM_000051.4(ATM):c.1899-14T>C
|
rs2135365137
|
|
NM_000051.4(ATM):c.1899-15C>T
|
rs759924007
|
|
NM_000051.4(ATM):c.1899-16T>A
|
rs1352009139
|
|
NM_000051.4(ATM):c.1899-16T>C
|
|
|
NM_000051.4(ATM):c.1899-16_1899-15insA
|
rs2135365068
|
|
NM_000051.4(ATM):c.1899-17A>G
|
rs2135365023
|
|
NM_000051.4(ATM):c.1899-18G>T
|
|
|
NM_000051.4(ATM):c.1899-1G>A
|
rs1555073065
|
|
NM_000051.4(ATM):c.1899-1G>T
|
rs1555073065
|
|
NM_000051.4(ATM):c.1899-1_1902del
|
|
|
NM_000051.4(ATM):c.1899-20A>C
|
|
|
NM_000051.4(ATM):c.1899-23_1899-19del
|
rs2135364890
|
|
NM_000051.4(ATM):c.1899-24_1899-5del
|
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
NM_000051.4(ATM):c.1899-348_1899-344del
|
rs200029320
|
|
NM_000051.4(ATM):c.1899-3A>G
|
rs1555073062
|
|
NM_000051.4(ATM):c.1899-3_1899-2delinsTG
|
|
|
NM_000051.4(ATM):c.1899-4G>A
|
rs2135365402
|
|
NM_000051.4(ATM):c.1899-5T>C
|
rs1591533679
|
|
NM_000051.4(ATM):c.1899-5T>G
|
rs1591533679
|
|
NM_000051.4(ATM):c.1899-7C>A
|
rs1060501584
|
|
NM_000051.4(ATM):c.1899-7C>G
|
|
|
NM_000051.4(ATM):c.1899-7C>T
|
rs1060501584
|
|
NM_000051.4(ATM):c.1899-8T>A
|
|
|
NM_000051.4(ATM):c.1899-8T>C
|
|
|
NM_000051.4(ATM):c.1899-8_1904del
|
rs2080290215
|
|
NM_000051.4(ATM):c.1899-8dup
|
|
|
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp)
|
rs1040176168
|
|
NM_000051.4(ATM):c.189T>C (p.Phe63=)
|
rs926466183
|
|
NM_000051.4(ATM):c.18T>C (p.Asn6=)
|
rs876659088
|
|
NM_000051.4(ATM):c.1900G>C (p.Glu634Gln)
|
rs2135365529
|
|
NM_000051.4(ATM):c.1901A>G (p.Glu634Gly)
|
rs1555073069
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
|
|
|
NM_000051.4(ATM):c.1905C>A (p.His635Gln)
|
rs1020808836
|
|
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
NM_000051.4(ATM):c.1906C>G (p.His636Asp)
|
|
|
NM_000051.4(ATM):c.1906C>T (p.His636Tyr)
|
rs786203654
|
|
NM_000051.4(ATM):c.1906del (p.His636fs)
|
|
|
NM_000051.4(ATM):c.1907A>C (p.His636Pro)
|
rs1333990758
|
|
NM_000051.4(ATM):c.1908C>T (p.His636=)
|
rs2135365854
|
|
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
|
|
|
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)
|
rs1565389611
|
|
NM_000051.4(ATM):c.1912A>C (p.Lys638Gln)
|
|
|
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn)
|
rs587781753
|
|
NM_000051.4(ATM):c.1914A>G (p.Lys638=)
|
|
|
NM_000051.4(ATM):c.1914A>T (p.Lys638Asn)
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
NM_000051.4(ATM):c.1914del (p.Asp639fs)
|
rs2080292910
|
|
NM_000051.4(ATM):c.1914dup (p.Asp639fs)
|
rs2080292910
|
|
NM_000051.4(ATM):c.1915G>C (p.Asp639His)
|
rs1591533828
|
|
NM_000051.4(ATM):c.1916A>G (p.Asp639Gly)
|
rs1591533846
|
|
NM_000051.4(ATM):c.1916A>T (p.Asp639Val)
|
rs1591533846
|
|
NM_000051.4(ATM):c.1918A>G (p.Lys640Glu)
|
rs879254190
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
NM_000051.4(ATM):c.1918_1920del (p.Lys640del)
|
rs2135366155
|
|
NM_000051.4(ATM):c.1919A>C (p.Lys640Thr)
|
rs2135366191
|
|
NM_000051.4(ATM):c.1919A>G (p.Lys640Arg)
|
|
|
NM_000051.4(ATM):c.191T>G (p.Leu64Ter)
|
rs1591451354
|
|
NM_000051.4(ATM):c.191del (p.Leu64fs)
|
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.1920del (p.Glu641fs)
|
|
|
NM_000051.4(ATM):c.1920dup (p.Glu641fs)
|
rs2080294213
|
|
NM_000051.4(ATM):c.1921G>C (p.Glu641Gln)
|
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
NM_000051.4(ATM):c.1923A>G (p.Glu641=)
|
rs2135366297
|
|
NM_000051.4(ATM):c.1924G>A (p.Glu642Lys)
|
rs1057519364
|
|
NM_000051.4(ATM):c.1924G>T (p.Glu642Ter)
|
rs1057519364
|
|
NM_000051.4(ATM):c.1926A>G (p.Glu642=)
|
rs786201469
|
|
NM_000051.4(ATM):c.1926A>T (p.Glu642Asp)
|
rs786201469
|
|
NM_000051.4(ATM):c.1927C>G (p.Leu643Val)
|
rs1565389730
|
|
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
|
|
|
NM_000051.4(ATM):c.1928T>C (p.Leu643Pro)
|
rs1591533931
|
|
NM_000051.4(ATM):c.1929T>A (p.Leu643=)
|
rs876659911
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.192dup (p.Gln65fs)
|
rs1565346604
|
|
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr)
|
rs1555073128
|
|
NM_000051.4(ATM):c.1930T>C (p.Ser644Pro)
|
|
|
NM_000051.4(ATM):c.1930del (p.Ser644fs)
|
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1931C>T (p.Ser644Leu)
|
|
|
NM_000051.4(ATM):c.1932A>G (p.Ser644=)
|
|
|
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
|
|
|
NM_000051.4(ATM):c.1935C>G (p.Phe645Leu)
|
rs876659709
|
|
NM_000051.4(ATM):c.1935C>T (p.Phe645=)
|
rs876659709
|
|
NM_000051.4(ATM):c.1935del (p.Ser646fs)
|
|
|
NM_000051.4(ATM):c.1936T>C (p.Ser646Pro)
|
rs1485023251
|
|
NM_000051.4(ATM):c.1937C>A (p.Ser646Ter)
|
rs1591534005
|
|
NM_000051.4(ATM):c.1937C>G (p.Ser646Ter)
|
rs1591534005
|
|
NM_000051.4(ATM):c.1937C>T (p.Ser646Leu)
|
|
|
NM_000051.4(ATM):c.1938A>G (p.Ser646=)
|
rs1376318521
|
|
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys)
|
rs1060501599
|
|
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.1941A>C (p.Glu647Asp)
|
rs2080297000
|
|
NM_000051.4(ATM):c.1941A>T (p.Glu647Asp)
|
|
|
NM_000051.4(ATM):c.1942G>A (p.Val648Ile)
|
|
|
NM_000051.4(ATM):c.1943T>G (p.Val648Gly)
|
|
|
NM_000051.4(ATM):c.1944A>C (p.Val648=)
|
rs1555073161
|
|
NM_000051.4(ATM):c.1944A>G (p.Val648=)
|
rs1555073161
|
|
NM_000051.4(ATM):c.1945G>A (p.Glu649Lys)
|
rs786202511
|
|
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)
|
rs1555073166
|
|
NM_000051.4(ATM):c.1948G>A (p.Glu650Lys)
|
rs2135367169
|
|
NM_000051.4(ATM):c.1948G>C (p.Glu650Gln)
|
|
|
NM_000051.4(ATM):c.1948G>T (p.Glu650Ter)
|
|
|
NM_000051.4(ATM):c.1949A>C (p.Glu650Ala)
|
|
|
NM_000051.4(ATM):c.194A>C (p.Gln65Pro)
|
rs760471526
|
|
NM_000051.4(ATM):c.194A>G (p.Gln65Arg)
|
rs760471526
|
|
NM_000051.4(ATM):c.1951C>G (p.Leu651Val)
|
|
|
NM_000051.4(ATM):c.1951C>T (p.Leu651=)
|
rs1057521751
|
|
NM_000051.4(ATM):c.1952T>A (p.Leu651Gln)
|
rs1555073179
|
|
NM_000051.4(ATM):c.1952T>C (p.Leu651Pro)
|
rs1555073179
|
|
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)
|
rs1565389902
|
|
NM_000051.4(ATM):c.1956T>C (p.Phe652=)
|
|
|
NM_000051.4(ATM):c.1956T>G (p.Phe652Leu)
|
rs587782544
|
|
NM_000051.4(ATM):c.1956_1959del (p.Leu653fs)
|
|
|
NM_000051.4(ATM):c.1957C>A (p.Leu653Ile)
|
|
|
NM_000051.4(ATM):c.1957C>T (p.Leu653Phe)
|
|
|
NM_000051.4(ATM):c.195G>C (p.Gln65His)
|
rs1555055072
|
|
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)
|
rs528165789
|
|
NM_000051.4(ATM):c.1962G>T (p.Gln654His)
|
rs1416371202
|
|
NM_000051.4(ATM):c.1963A>G (p.Thr655Ala)
|
|
|
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile)
|
rs2080299187
|
|
NM_000051.4(ATM):c.1966del (p.Thr656fs)
|
rs2135367757
|
|
NM_000051.4(ATM):c.1967C>T (p.Thr656Ile)
|
rs754800755
|
|
NM_000051.4(ATM):c.1968T>C (p.Thr656=)
|
rs1317185205
|
|
NM_000051.4(ATM):c.1968T>G (p.Thr656=)
|
rs1317185205
|
|
NM_000051.4(ATM):c.196A>G (p.Lys66Glu)
|
rs1565346656
|
|
NM_000051.4(ATM):c.196A>T (p.Lys66Ter)
|
rs1565346656
|
|
NM_000051.4(ATM):c.1971T>G (p.Phe657Leu)
|
rs1555073215
|
|
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)
|
rs1343017824
|
|
NM_000051.4(ATM):c.1972G>C (p.Asp658His)
|
rs1343017824
|
|
NM_000051.4(ATM):c.1973A>T (p.Asp658Val)
|
rs1177954052
|
|
NM_000051.4(ATM):c.1974C>G (p.Asp658Glu)
|
rs1555073229
|
|
NM_000051.4(ATM):c.1974C>T (p.Asp658=)
|
|
|
NM_000051.4(ATM):c.1975A>C (p.Lys659Gln)
|
|
|
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu)
|
|
|
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg)
|
rs1565390043
|
|
NM_000051.4(ATM):c.1976A>T (p.Lys659Met)
|
rs1565390043
|
|
NM_000051.4(ATM):c.1976del (p.Lys659fs)
|
|
|
NM_000051.4(ATM):c.1977G>A (p.Lys659=)
|
rs1060501565
|
|
NM_000051.4(ATM):c.1977G>C (p.Lys659Asn)
|
rs1060501565
|
|
NM_000051.4(ATM):c.1978A>G (p.Met660Val)
|
rs1555073240
|
|
NM_000051.4(ATM):c.1978del (p.Met660fs)
|
|
|
NM_000051.4(ATM):c.1978dup (p.Met660fs)
|
rs1555073243
|
|
NM_000051.4(ATM):c.1979T>A (p.Met660Lys)
|
rs1298234172
|
|
NM_000051.4(ATM):c.1979T>C (p.Met660Thr)
|
rs1298234172
|
|
NM_000051.4(ATM):c.1979_1981delinsAGA (p.Met660_Asp661delinsLysAsn)
|
rs1565390104
|
|
NM_000051.4(ATM):c.1980G>A (p.Met660Ile)
|
|
|
NM_000051.4(ATM):c.1980G>T (p.Met660Ile)
|
rs2080301342
|
|
NM_000051.4(ATM):c.1981G>A (p.Asp661Asn)
|
rs1029931261
|
|
NM_000051.4(ATM):c.1981G>C (p.Asp661His)
|
rs1029931261
|
|
NM_000051.4(ATM):c.1982A>C (p.Asp661Ala)
|
rs1565390124
|
|
NM_000051.4(ATM):c.1982A>G (p.Asp661Gly)
|
|
|
NM_000051.4(ATM):c.1983C>T (p.Asp661=)
|
rs2080301965
|
|
NM_000051.4(ATM):c.1988dup (p.Leu663fs)
|
|
|
NM_000051.4(ATM):c.1989A>G (p.Leu663=)
|
rs786202748
|
|
NM_000051.4(ATM):c.198A>T (p.Lys66Asn)
|
rs540920248
|
|
NM_000051.4(ATM):c.198dup (p.Tyr67fs)
|
rs2135033137
|
|
NM_000051.4(ATM):c.1990A>G (p.Thr664Ala)
|
rs797045319
|
|
NM_000051.4(ATM):c.1991C>A (p.Thr664Asn)
|
rs1231343218
|
|
NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)
|
|
|
NM_000051.4(ATM):c.1992dup (p.Ile665fs)
|
rs2135368545
|
|
NM_000051.4(ATM):c.1993A>C (p.Ile665Leu)
|
rs1060501645
|
|
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.1995T>A (p.Ile665=)
|
|
|
NM_000051.4(ATM):c.1995T>C (p.Ile665=)
|
rs1555073271
|
|
NM_000051.4(ATM):c.1995del (p.Ile665fs)
|
rs1591534382
|
|
NM_000051.4(ATM):c.1997del (p.Val666fs)
|
rs2080303837
|
|
NM_000051.4(ATM):c.1998G>A (p.Val666=)
|
rs748380150
|
|
NM_000051.4(ATM):c.1998G>C (p.Val666=)
|
rs748380150
|
|
NM_000051.4(ATM):c.1999A>G (p.Arg667Gly)
|
|
|
NM_000051.4(ATM):c.19G>C (p.Asp7His)
|
rs2078806188
|
|
NM_000051.4(ATM):c.19G>T (p.Asp7Tyr)
|
|
|
NM_000051.4(ATM):c.19_21del (p.Asp7del)
|
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2000G>A (p.Arg667Lys)
|
|
|
NM_000051.4(ATM):c.2000_2003dup (p.Cys669fs)
|
rs1555073282
|
|
NM_000051.4(ATM):c.2002G>A (p.Glu668Lys)
|
rs876659808
|
|
NM_000051.4(ATM):c.2006G>A (p.Cys669Tyr)
|
|
|
NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)
|
|
|
NM_000051.4(ATM):c.2008G>A (p.Gly670Ser)
|
|
|
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp)
|
rs887944555
|
|
NM_000051.4(ATM):c.2009G>C (p.Gly670Ala)
|
rs887944555
|
|
NM_000051.4(ATM):c.2009G>T (p.Gly670Val)
|
rs887944555
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
NM_000051.4(ATM):c.2010T>C (p.Gly670=)
|
rs2135368892
|
|
NM_000051.4(ATM):c.2011A>G (p.Ile671Val)
|
rs730881344
|
|
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln)
|
rs2080305905
|
|
NM_000051.4(ATM):c.2018dup (p.His674fs)
|
|
|
NM_000051.4(ATM):c.2019_2020insGACAAG (p.Lys673_His674insAspLys)
|
rs876659686
|
|
NM_000051.4(ATM):c.2019del (p.Lys673fs)
|
rs1591534511
|
|
NM_000051.4(ATM):c.201T>C (p.Tyr67=)
|
rs1555055083
|
|
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)
|
rs1555055083
|
|
NM_000051.4(ATM):c.201_206del (p.Tyr67_Gln69delinsTer)
|
|
|
NM_000051.4(ATM):c.2020C>T (p.His674Tyr)
|
|
|
NM_000051.4(ATM):c.2022C>A (p.His674Gln)
|
rs2080306836
|
|
NM_000051.4(ATM):c.2022C>G (p.His674Gln)
|
rs2080306836
|
|
NM_000051.4(ATM):c.2023_2024del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.2023del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.2025G>A (p.Gln675=)
|
|
|
NM_000051.4(ATM):c.2025del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.2028C>T (p.Ser676=)
|
rs375196053
|
|
NM_000051.4(ATM):c.2029A>G (p.Ser677Gly)
|
rs568026188
|
|
NM_000051.4(ATM):c.2029A>T (p.Ser677Cys)
|
|
|
NM_000051.4(ATM):c.202_203del (p.Ile68fs)
|
|
|
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)
|
rs2080308052
|
|
NM_000051.4(ATM):c.2030G>C (p.Ser677Thr)
|
rs2080308052
|
|
NM_000051.4(ATM):c.2031T>C (p.Ser677=)
|
rs1591534580
|
|
NM_000051.4(ATM):c.2032del (p.Ile678fs)
|
rs2135369537
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
NM_000051.4(ATM):c.2034T>A (p.Ile678=)
|
rs1013513956
|
|
NM_000051.4(ATM):c.2034T>C (p.Ile678=)
|
rs1013513956
|
|
NM_000051.4(ATM):c.2036G>A (p.Gly679Asp)
|
rs544123518
|
|
NM_000051.4(ATM):c.2037C>T (p.Gly679=)
|
|
|
NM_000051.4(ATM):c.2038T>C (p.Phe680Leu)
|
|
|
NM_000051.4(ATM):c.203T>C (p.Ile68Thr)
|
rs1591451502
|
|
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys)
|
rs1060501585
|
|
NM_000051.4(ATM):c.2042C>T (p.Ser681Phe)
|
rs1060501585
|
|
NM_000051.4(ATM):c.2043T>A (p.Ser681=)
|
rs746422877
|
|
NM_000051.4(ATM):c.2044G>C (p.Val682Leu)
|
|
|
NM_000051.4(ATM):c.2044G>T (p.Val682Phe)
|
rs2135369797
|
|
NM_000051.4(ATM):c.2044_2057del (p.Val682fs)
|
rs2135369731
|
|
NM_000051.4(ATM):c.2045T>C (p.Val682Ala)
|
|
|
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)
|
|
|
NM_000051.4(ATM):c.2046C>A (p.Val682=)
|
rs1591534664
|
|
NM_000051.4(ATM):c.2046C>G (p.Val682=)
|
rs1591534664
|
|
NM_000051.4(ATM):c.2047C>T (p.His683Tyr)
|
rs1565390482
|
|
NM_000051.4(ATM):c.2048A>T (p.His683Leu)
|
|
|
NM_000051.4(ATM):c.204T>G (p.Ile68Met)
|
rs2078883151
|
|
NM_000051.4(ATM):c.2050C>T (p.Gln684Ter)
|
rs1060501691
|
|
NM_000051.4(ATM):c.2052G>C (p.Gln684His)
|
rs775890872
|
|
NM_000051.4(ATM):c.2053A>C (p.Asn685His)
|
|
|
NM_000051.4(ATM):c.2054A>G (p.Asn685Ser)
|
rs1412443702
|
|
NM_000051.4(ATM):c.2054A>T (p.Asn685Ile)
|
rs1412443702
|
|
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile)
|
rs1335638362
|
|
NM_000051.4(ATM):c.2058C>A (p.Leu686=)
|
|
|
NM_000051.4(ATM):c.2058C>G (p.Leu686=)
|
rs761397203
|
|
NM_000051.4(ATM):c.2058C>T (p.Leu686=)
|
rs761397203
|
|
NM_000051.4(ATM):c.2059A>C (p.Lys687Gln)
|
rs2135370162
|
|
NM_000051.4(ATM):c.2059_2065del (p.Lys687fs)
|
|
|
NM_000051.4(ATM):c.205C>A (p.Gln69Lys)
|
rs876660631
|
|
NM_000051.4(ATM):c.205C>T (p.Gln69Ter)
|
rs876660631
|
|
NM_000051.4(ATM):c.2060A>G (p.Lys687Arg)
|
rs2080312441
|
|
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln)
|
rs769338089
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
NM_000051.4(ATM):c.2064A>G (p.Glu688=)
|
rs772739433
|
|
NM_000051.4(ATM):c.2064_2072del (p.Glu688_Leu690del)
|
rs2135370232
|
|
NM_000051.4(ATM):c.2064del (p.Glu688fs)
|
|
|
NM_000051.4(ATM):c.2065T>A (p.Ser689Thr)
|
|
|
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
|
|
|
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu)
|
rs1591534804
|
|
NM_000051.4(ATM):c.2067A>G (p.Ser689=)
|
rs1555073434
|
|
NM_000051.4(ATM):c.2068C>A (p.Leu690Met)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2068C>T (p.Leu690=)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2069T>C (p.Leu690Pro)
|
rs1555073438
|
|
NM_000051.4(ATM):c.2069_2074dup (p.Asp691_Arg692insLeuAsp)
|
|
|
NM_000051.4(ATM):c.206A>C (p.Gln69Pro)
|
rs1591451524
|
|
NM_000051.4(ATM):c.206A>G (p.Gln69Arg)
|
|
|
NM_000051.4(ATM):c.2070G>A (p.Leu690=)
|
|
|
NM_000051.4(ATM):c.2071G>C (p.Asp691His)
|
rs762394404
|
|
NM_000051.4(ATM):c.2071G>T (p.Asp691Tyr)
|
|
|
NM_000051.4(ATM):c.2074C>G (p.Arg692Gly)
|
|
|
NM_000051.4(ATM):c.2074_2124+280del
|
|
|
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)
|
rs751515818
|
|
NM_000051.4(ATM):c.2078G>A (p.Cys693Tyr)
|
|
|
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe)
|
rs2135370698
|
|
NM_000051.4(ATM):c.2080C>A (p.Leu694Ile)
|
|
|
NM_000051.4(ATM):c.2080_2081del (p.Leu694fs)
|
rs886039591
|
|
NM_000051.4(ATM):c.2083C>T (p.Leu695=)
|
|
|
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg)
|
rs879254178
|
|
NM_000051.4(ATM):c.2086G>C (p.Gly696Arg)
|
|
|
NM_000051.4(ATM):c.2086G>T (p.Gly696Ter)
|
rs879254178
|
|
NM_000051.4(ATM):c.2086_2087dup
|
|
|
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu)
|
rs752550257
|
|
NM_000051.4(ATM):c.2087G>T (p.Gly696Val)
|
rs752550257
|
|
NM_000051.4(ATM):c.2088A>T (p.Gly696=)
|
rs1555073469
|
|
NM_000051.4(ATM):c.2089T>C (p.Leu697=)
|
|
|
NM_000051.4(ATM):c.208A>G (p.Lys70Glu)
|
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
NM_000051.4(ATM):c.2091A>G (p.Leu697=)
|
rs2135371070
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
NM_000051.4(ATM):c.2092T>G (p.Ser698Ala)
|
rs2135371120
|
|
NM_000051.4(ATM):c.2093C>G (p.Ser698Ter)
|
rs2135371158
|
|
NM_000051.4(ATM):c.2093C>T (p.Ser698Leu)
|
|
|
NM_000051.4(ATM):c.2094A>C (p.Ser698=)
|
rs1344336370
|
|
NM_000051.4(ATM):c.2094A>G (p.Ser698=)
|
rs1344336370
|
|
NM_000051.4(ATM):c.2094A>T (p.Ser698=)
|
|
|
NM_000051.4(ATM):c.2095G>A (p.Glu699Lys)
|
|
|
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)
|
rs1060501539
|
|
NM_000051.4(ATM):c.2097A>G (p.Glu699=)
|
rs777887012
|
|
NM_000051.4(ATM):c.2098C>A (p.Gln700Lys)
|
rs786202743
|
|
NM_000051.4(ATM):c.2098C>G (p.Gln700Glu)
|
rs786202743
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2101C>T (p.Leu701Phe)
|
|
|
NM_000051.4(ATM):c.2102T>C (p.Leu701Pro)
|
|
|
NM_000051.4(ATM):c.2104C>G (p.Leu702Val)
|
rs1555073490
|
|
NM_000051.4(ATM):c.2104C>T (p.Leu702=)
|
rs1555073490
|
|
NM_000051.4(ATM):c.2107A>C (p.Asn703His)
|
rs2135371578
|
|
NM_000051.4(ATM):c.2108A>G (p.Asn703Ser)
|
rs587781304
|
|
NM_000051.4(ATM):c.210A>G (p.Lys70=)
|
rs1064793030
|
|
NM_000051.4(ATM):c.2111A>G (p.Asn704Ser)
|
rs753903558
|
|
NM_000051.4(ATM):c.2111_2114del (p.Asn704fs)
|
rs2080316641
|
|
NM_000051.4(ATM):c.2112T>C (p.Asn704=)
|
rs2080317012
|
|
NM_000051.4(ATM):c.2112T>G (p.Asn704Lys)
|
|
|
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)
|
|
|
NM_000051.4(ATM):c.2113T>C (p.Tyr705His)
|
rs757260641
|
|
NM_000051.4(ATM):c.2113T>G (p.Tyr705Asp)
|
|
|
NM_000051.4(ATM):c.2113_2116del (p.Tyr705fs)
|
rs2135371753
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2114A>G (p.Tyr705Cys)
|
|
|
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)
|
rs2080317430
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
NM_000051.4(ATM):c.2116T>A (p.Ser706Thr)
|
|
|
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala)
|
rs536609092
|
|
NM_000051.4(ATM):c.2116_2117del (p.Ser706fs)
|
rs1591535064
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
|
|
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs)
|
rs1555073529
|
|
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
|
|
|
NM_000051.4(ATM):c.2121T>C (p.Ser707=)
|
|
|
NM_000051.4(ATM):c.2123A>G (p.Glu708Gly)
|
rs2080318638
|
|
NM_000051.4(ATM):c.2124+12T>A
|
rs61278354
|
|
NM_000051.4(ATM):c.2124+12del
|
rs769051992
|
|
NM_000051.4(ATM):c.2124+12dup
|
rs769051992
|
|
NM_000051.4(ATM):c.2124+15A>G
|
|
|
NM_000051.4(ATM):c.2124+16_2124+19del
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+19del
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+19dup
|
rs35211268
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1del
|
rs2080318979
|
|
NM_000051.4(ATM):c.2124+20G>A
|
|
|
NM_000051.4(ATM):c.2124+21A>T
|
|
|
NM_000051.4(ATM):c.2124+3G>C
|
rs1193263660
|
|
NM_000051.4(ATM):c.2124+409A>G
|
rs869312477
|
|
NM_000051.4(ATM):c.2124+4A>C
|
rs2135372342
|
|
NM_000051.4(ATM):c.2124+5G>A
|
rs1565390942
|
|
NM_000051.4(ATM):c.2124+6A>G
|
rs550998406
|
|
NM_000051.4(ATM):c.2124+9T>A
|
rs1591535203
|
|
NM_000051.4(ATM):c.2125-12G>A
|
rs2135391706
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
NM_000051.4(ATM):c.2125-14T>C
|
|
|
NM_000051.4(ATM):c.2125-15G>T
|
|
|
NM_000051.4(ATM):c.2125-15_2125-9del
|
rs2135391517
|
|
NM_000051.4(ATM):c.2125-15_2128del
|
rs1064792940
|
|
NM_000051.4(ATM):c.2125-16T>C
|
rs1057523016
|
|
NM_000051.4(ATM):c.2125-17T>C
|
rs1373576656
|
|
NM_000051.4(ATM):c.2125-18T>C
|
|
|
NM_000051.4(ATM):c.2125-19A>C
|
rs2080469665
|
|
NM_000051.4(ATM):c.2125-19A>T
|
rs2080469665
|
|
NM_000051.4(ATM):c.2125-1G>A
|
rs1402299151
|
|
NM_000051.4(ATM):c.2125-1G>T
|
rs1402299151
|
|
NM_000051.4(ATM):c.2125-2A>C
|
rs1565394403
|
|
NM_000051.4(ATM):c.2125-2A>G
|
|
|
NM_000051.4(ATM):c.2125-2_2128del
|
rs2135391894
|
|
NM_000051.4(ATM):c.2125-3A>C
|
rs1565394396
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
NM_000051.4(ATM):c.2125-4dup
|
rs2135391852
|
|
NM_000051.4(ATM):c.2125-5T>C
|
|
|
NM_000051.4(ATM):c.2125-5T>G
|
rs2080471238
|
|
NM_000051.4(ATM):c.2125-5_2125-4dup
|
|
|
NM_000051.4(ATM):c.2125-7C>A
|
rs2135391832
|
|
NM_000051.4(ATM):c.2125-7_2125-3del
|
rs1060504272
|
|
NM_000051.4(ATM):c.2125-910T>G
|
|
|
NM_000051.4(ATM):c.2125-9T>C
|
rs2135391794
|
|
NM_000051.4(ATM):c.2125A>C (p.Ile709Leu)
|
rs864622259
|
|
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.2125del (p.Ile709fs)
|
rs1057517248
|
|
NM_000051.4(ATM):c.2126T>A (p.Ile709Asn)
|
rs2135392028
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
NM_000051.4(ATM):c.2129C>A (p.Thr710Lys)
|
rs1565394456
|
|
NM_000051.4(ATM):c.2129del (p.Thr710fs)
|
rs786203807
|
|
NM_000051.4(ATM):c.212A>G (p.Glu71Gly)
|
|
|
NM_000051.4(ATM):c.2130A>C (p.Thr710=)
|
|
|
NM_000051.4(ATM):c.2130A>G (p.Thr710=)
|
rs2080472731
|
|
NM_000051.4(ATM):c.2130A>T (p.Thr710=)
|
|
|
NM_000051.4(ATM):c.2131_2136dup (p.Ser712_Glu713insAsnSer)
|
|
|
NM_000051.4(ATM):c.2134T>A (p.Ser712Thr)
|
rs1565394509
|
|
NM_000051.4(ATM):c.2134T>C (p.Ser712Pro)
|
|
|
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala)
|
rs1565394509
|
|
NM_000051.4(ATM):c.2134del (p.Ser712fs)
|
rs1591541888
|
|
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
|
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2135C>T (p.Ser712Leu)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2136A>G (p.Ser712=)
|
|
|
NM_000051.4(ATM):c.2138A>C (p.Glu713Ala)
|
rs1565394523
|
|
NM_000051.4(ATM):c.2139A>C (p.Glu713Asp)
|
rs2080473610
|
|
NM_000051.4(ATM):c.2139A>G (p.Glu713=)
|
rs2080473610
|
|
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala)
|
rs2080473704
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2141C>A (p.Thr714Asn)
|
|
|
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser)
|
rs1555074846
|
|
NM_000051.4(ATM):c.2143C>G (p.Leu715Val)
|
rs758864982
|
|
NM_000051.4(ATM):c.2143C>T (p.Leu715Phe)
|
rs758864982
|
|
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro)
|
rs1555074855
|
|
NM_000051.4(ATM):c.2144T>G (p.Leu715Arg)
|
rs1555074855
|
|
NM_000051.4(ATM):c.2145T>G (p.Leu715=)
|
rs2080474170
|
|
NM_000051.4(ATM):c.2145del (p.Val716fs)
|
|
|
NM_000051.4(ATM):c.2147T>A (p.Val716Asp)
|
rs864622294
|
|
NM_000051.4(ATM):c.2147T>C (p.Val716Ala)
|
rs864622294
|
|
NM_000051.4(ATM):c.2147T>G (p.Val716Gly)
|
rs864622294
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
NM_000051.4(ATM):c.2149C>A (p.Arg717=)
|
rs147515380
|
|
NM_000051.4(ATM):c.214A>G (p.Thr72Ala)
|
rs1223998386
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
NM_000051.4(ATM):c.2151G>A (p.Arg717=)
|
rs1331738032
|
|
NM_000051.4(ATM):c.2152dup (p.Cys718fs)
|
rs2135392702
|
|
NM_000051.4(ATM):c.2155T>C (p.Ser719Pro)
|
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
NM_000051.4(ATM):c.2156C>A (p.Ser719Ter)
|
rs2080475075
|
|
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu)
|
rs2080475075
|
|
NM_000051.4(ATM):c.2157A>G (p.Ser719=)
|
rs1591542014
|
|
NM_000051.4(ATM):c.2157A>T (p.Ser719=)
|
|
|
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser)
|
rs565622131
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
NM_000051.4(ATM):c.2159G>C (p.Arg720Pro)
|
rs55830714
|
|
NM_000051.4(ATM):c.215C>A (p.Thr72Lys)
|
rs876658893
|
|
NM_000051.4(ATM):c.215C>G (p.Thr72Arg)
|
rs876658893
|
|
NM_000051.4(ATM):c.215C>T (p.Thr72Ile)
|
rs876658893
|
|
NM_000051.4(ATM):c.2160T>A (p.Arg720=)
|
|
|
NM_000051.4(ATM):c.2162T>C (p.Leu721Pro)
|
rs2080475582
|
|
NM_000051.4(ATM):c.2162T>G (p.Leu721Arg)
|
rs2080475582
|
|
NM_000051.4(ATM):c.2163T>C (p.Leu721=)
|
rs1591542057
|
|
NM_000051.4(ATM):c.2164T>C (p.Leu722=)
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.2166G>A (p.Leu722=)
|
rs1555074886
|
|
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe)
|
rs1555074886
|
|
NM_000051.4(ATM):c.2167G>A (p.Val723Met)
|
|
|
NM_000051.4(ATM):c.2167_2173del (p.Val723fs)
|
rs1064793033
|
|
NM_000051.4(ATM):c.2169G>C (p.Val723=)
|
|
|
NM_000051.4(ATM):c.2169G>T (p.Val723=)
|
rs878853491
|
|
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser)
|
rs887317346
|
|
NM_000051.4(ATM):c.2170_2200del (p.Val723_Gly724insTer)
|
|
|
NM_000051.4(ATM):c.2171G>A (p.Gly724Asp)
|
rs1555074904
|
|
NM_000051.4(ATM):c.2172T>C (p.Gly724=)
|
rs1591542120
|
|
NM_000051.4(ATM):c.2172T>G (p.Gly724=)
|
rs1591542120
|
|
NM_000051.4(ATM):c.2173G>A (p.Val725Ile)
|
rs1272918725
|
|
NM_000051.4(ATM):c.2174T>A (p.Val725Asp)
|
rs1565394761
|
|
NM_000051.4(ATM):c.2176C>G (p.Leu726Val)
|
rs775266056
|
|
NM_000051.4(ATM):c.2176C>T (p.Leu726Phe)
|
rs775266056
|
|
NM_000051.4(ATM):c.2178T>A (p.Leu726=)
|
|
|
NM_000051.4(ATM):c.2178T>C (p.Leu726=)
|
rs1591542185
|
|
NM_000051.4(ATM):c.2179G>A (p.Gly727Ser)
|
rs2080477463
|
|
NM_000051.4(ATM):c.217G>A (p.Glu73Lys)
|
rs1555055119
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
NM_000051.4(ATM):c.217del (p.Glu73fs)
|
|
|
NM_000051.4(ATM):c.2180G>A (p.Gly727Asp)
|
rs1446080226
|
|
NM_000051.4(ATM):c.2181C>G (p.Gly727=)
|
rs876658836
|
|
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser)
|
rs1565394820
|
|
NM_000051.4(ATM):c.2184C>T (p.Cys728=)
|
rs1555074933
|
|
NM_000051.4(ATM):c.2185T>C (p.Tyr729His)
|
rs1190793955
|
|
NM_000051.4(ATM):c.2186A>G (p.Tyr729Cys)
|
rs1555074940
|
|
NM_000051.4(ATM):c.2187C>G (p.Tyr729Ter)
|
|
|
NM_000051.4(ATM):c.2188T>G (p.Cys730Gly)
|
rs1555074947
|
|
NM_000051.4(ATM):c.218A>G (p.Glu73Gly)
|
|
|
NM_000051.4(ATM):c.2190T>C (p.Cys730=)
|
rs876659949
|
|
NM_000051.4(ATM):c.2192A>G (p.Tyr731Cys)
|
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
NM_000051.4(ATM):c.2193del (p.Cys730_Tyr731insTer)
|
rs2080479088
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)
|
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
NM_000051.4(ATM):c.2196G>A (p.Met732Ile)
|
rs2135393803
|
|
NM_000051.4(ATM):c.2197G>A (p.Gly733Ser)
|
rs1565394966
|
|
NM_000051.4(ATM):c.2198_2199insC (p.Val734fs)
|
|
|
NM_000051.4(ATM):c.2199T>A (p.Gly733=)
|
|
|
NM_000051.4(ATM):c.2199T>C (p.Gly733=)
|
rs1591542359
|
|
NM_000051.4(ATM):c.2200G>A (p.Val734Ile)
|
rs1390127104
|
|
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.2200del (p.Gly733_Val734insTer)
|
|
|
NM_000051.4(ATM):c.2200dup (p.Val734fs)
|
|
|
NM_000051.4(ATM):c.2201_2202insC (p.Ile735fs)
|
rs1459299108
|
|
NM_000051.4(ATM):c.2204T>C (p.Ile735Thr)
|
rs1565395012
|
|
NM_000051.4(ATM):c.2205A>G (p.Ile735Met)
|
rs2135394034
|
|
NM_000051.4(ATM):c.2205_2208del (p.Ile735fs)
|
rs2135394014
|
|
NM_000051.4(ATM):c.2206G>A (p.Ala736Thr)
|
rs2080480637
|
|
NM_000051.4(ATM):c.2207C>G (p.Ala736Gly)
|
|
|
NM_000051.4(ATM):c.2208T>G (p.Ala736=)
|
rs761874856
|
|
NM_000051.4(ATM):c.2209G>A (p.Glu737Lys)
|
rs2135394119
|
|
NM_000051.4(ATM):c.220T>A (p.Cys74Ser)
|
rs1565346819
|
|
NM_000051.4(ATM):c.2210A>G (p.Glu737Gly)
|
|
|
NM_000051.4(ATM):c.2211A>G (p.Glu737=)
|
rs1555074990
|
|
NM_000051.4(ATM):c.2214G>A (p.Glu738=)
|
rs1565395061
|
|
NM_000051.4(ATM):c.2214G>C (p.Glu738Asp)
|
|
|
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys)
|
rs1565395076
|
|
NM_000051.4(ATM):c.2217A>T (p.Glu739Asp)
|
|
|
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr)
|
rs786201866
|
|
NM_000051.4(ATM):c.2218G>C (p.Ala740Pro)
|
rs786201866
|
|
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr)
|
rs864622515
|
|
NM_000051.4(ATM):c.2220A>T (p.Ala740=)
|
rs56353517
|
|
NM_000051.4(ATM):c.2222A>C (p.Tyr741Ser)
|
rs878853492
|
|
NM_000051.4(ATM):c.2222A>T (p.Tyr741Phe)
|
rs878853492
|
|
NM_000051.4(ATM):c.2223T>A (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr)
|
rs2135394428
|
|
NM_000051.4(ATM):c.2226G>C (p.Lys742Asn)
|
rs2080482083
|
|
NM_000051.4(ATM):c.2228C>G (p.Ser743Ter)
|
rs2080482247
|
|
NM_000051.4(ATM):c.2229A>T (p.Ser743=)
|
|
|
NM_000051.4(ATM):c.222T>C (p.Cys74=)
|
rs1555055127
|
|
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)
|
|
|
NM_000051.4(ATM):c.2232A>G (p.Glu744=)
|
rs2080482588
|
|
NM_000051.4(ATM):c.2232A>T (p.Glu744Asp)
|
rs2080482588
|
|
NM_000051.4(ATM):c.2233T>C (p.Leu745=)
|
rs1293287271
|
|
NM_000051.4(ATM):c.2235A>T (p.Leu745Phe)
|
|
|
NM_000051.4(ATM):c.2238C>G (p.Phe746Leu)
|
rs786203595
|
|
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter)
|
rs2080483369
|
|
NM_000051.4(ATM):c.2239del (p.Gln747fs)
|
|
|
NM_000051.4(ATM):c.2240A>G (p.Gln747Arg)
|
|
|
NM_000051.4(ATM):c.2242A>C (p.Lys748Gln)
|
|
|
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
|
|
|
NM_000051.4(ATM):c.2243A>G (p.Lys748Arg)
|
|
|
NM_000051.4(ATM):c.2244A>G (p.Lys748=)
|
rs1591542559
|
|
NM_000051.4(ATM):c.2244A>T (p.Lys748Asn)
|
rs1591542559
|
|
NM_000051.4(ATM):c.2245G>A (p.Ala749Thr)
|
rs876660163
|
|
NM_000051.4(ATM):c.2245G>C (p.Ala749Pro)
|
rs876660163
|
|
NM_000051.4(ATM):c.2246C>G (p.Ala749Gly)
|
rs867443346
|
|
NM_000051.4(ATM):c.2247C>T (p.Ala749=)
|
|
|
NM_000051.4(ATM):c.2247del (p.Lys750fs)
|
|
|
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu)
|
rs2080484145
|
|
NM_000051.4(ATM):c.2249A>G (p.Lys750Arg)
|
|
|
NM_000051.4(ATM):c.2250+13A>G
|
rs1290519111
|
|
NM_000051.4(ATM):c.2250+15A>C
|
rs1057523706
|
|
NM_000051.4(ATM):c.2250+15A>G
|
rs1057523706
|
|
NM_000051.4(ATM):c.2250+16C>G
|
rs2135395339
|
|
NM_000051.4(ATM):c.2250+16C>T
|
|
|
NM_000051.4(ATM):c.2250+1G>A
|
rs1565395193
|
|
NM_000051.4(ATM):c.2250+20T>A
|
rs377570109
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
NM_000051.4(ATM):c.2250+329C>A
|
rs181049353
|
|
NM_000051.4(ATM):c.2250+3A>G
|
rs2080484745
|
|
NM_000051.4(ATM):c.2250+4G>A
|
rs1565395217
|
|
NM_000051.4(ATM):c.2250+5G>A
|
rs1555075047
|
|
NM_000051.4(ATM):c.2250+5G>C
|
rs1555075047
|
|
NM_000051.4(ATM):c.2250+7G>A
|
rs752009031
|
|
NM_000051.4(ATM):c.2250+7G>T
|
rs752009031
|
|
NM_000051.4(ATM):c.2250+8A>T
|
rs1555075054
|
|
NM_000051.4(ATM):c.2250+9A>C
|
rs755569951
|
|
NM_000051.4(ATM):c.2250+9A>G
|
rs755569951
|
|
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn)
|
rs1137887
|
|
NM_000051.4(ATM):c.2251-115dup
|
rs4987959
|
|
NM_000051.4(ATM):c.2251-11A>C
|
|
|
NM_000051.4(ATM):c.2251-11A>T
|
rs755369461
|
|
NM_000051.4(ATM):c.2251-12T>C
|
|
|
NM_000051.4(ATM):c.2251-13C>A
|
|
|
NM_000051.4(ATM):c.2251-13C>G
|
|
|
NM_000051.4(ATM):c.2251-13C>T
|
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
NM_000051.4(ATM):c.2251-15T>A
|
rs1565396892
|
|
NM_000051.4(ATM):c.2251-15T>C
|
rs1565396892
|
|
NM_000051.4(ATM):c.2251-18T>G
|
rs1555075595
|
|
NM_000051.4(ATM):c.2251-18del
|
rs730881284
|
|
NM_000051.4(ATM):c.2251-18dup
|
rs730881284
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-1_2257dup
|
rs2080573042
|
|
NM_000051.4(ATM):c.2251-2A>C
|
|
|
NM_000051.4(ATM):c.2251-2A>G
|
rs2135405559
|
|
NM_000051.4(ATM):c.2251-33T>A
|
rs1335598894
|
|
NM_000051.4(ATM):c.2251-34C>G
|
rs2135404868
|
|
NM_000051.4(ATM):c.2251-3T>C
|
rs752951518
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2251-5A>C
|
|
|
NM_000051.4(ATM):c.2251-5A>T
|
|
|
NM_000051.4(ATM):c.2251-6C>T
|
rs1555075617
|
|
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr)
|
rs1064793558
|
|
NM_000051.4(ATM):c.2251T>C (p.Ser751Pro)
|
|
|
NM_000051.4(ATM):c.2252C>G (p.Ser751Cys)
|
|
|
NM_000051.4(ATM):c.2253T>A (p.Ser751=)
|
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
NM_000051.4(ATM):c.2254C>T (p.Leu752=)
|
rs756522395
|
|
NM_000051.4(ATM):c.2254_2255del (p.Leu752fs)
|
|
|
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro)
|
rs2135405669
|
|
NM_000051.4(ATM):c.2255dup (p.Met753fs)
|
rs1565396965
|
|
NM_000051.4(ATM):c.2256A>T (p.Leu752=)
|
|
|
NM_000051.4(ATM):c.2257A>T (p.Met753Leu)
|
|
|
NM_000051.4(ATM):c.225G>A (p.Leu75=)
|
rs1060504306
|
|
NM_000051.4(ATM):c.225G>T (p.Leu75=)
|
|
|
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
|
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg)
|
rs1060501646
|
|
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr)
|
rs876660916
|
|
NM_000051.4(ATM):c.2264G>T (p.Cys755Phe)
|
rs876660916
|
|
NM_000051.4(ATM):c.2265T>C (p.Cys755=)
|
|
|
NM_000051.4(ATM):c.2266G>A (p.Ala756Thr)
|
|
|
NM_000051.4(ATM):c.2267C>A (p.Ala756Glu)
|
|
|
NM_000051.4(ATM):c.2267C>T (p.Ala756Val)
|
|
|
NM_000051.4(ATM):c.2268A>G (p.Ala756=)
|
rs1057522845
|
|
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)
|
rs375091571
|
|
NM_000051.4(ATM):c.2270del (p.Gly757fs)
|
rs1565397022
|
|
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)
|
rs1555075658
|
|
NM_000051.4(ATM):c.2274A>C (p.Glu758Asp)
|
rs1591546306
|
|
NM_000051.4(ATM):c.2275A>T (p.Ser759Cys)
|
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
NM_000051.4(ATM):c.2276G>C (p.Ser759Thr)
|
|
|
NM_000051.4(ATM):c.2278A>C (p.Ile760Leu)
|
|
|
NM_000051.4(ATM):c.2278A>G (p.Ile760Val)
|
rs1555075672
|
|
NM_000051.4(ATM):c.2279T>C (p.Ile760Thr)
|
|
|
NM_000051.4(ATM):c.227G>A (p.Arg76Lys)
|
rs1565346853
|
|
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala)
|
rs2235011
|
|
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)
|
|
|
NM_000051.4(ATM):c.2283T>C (p.Thr761=)
|
|
|
NM_000051.4(ATM):c.2283T>G (p.Thr761=)
|
|
|
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.2285T>C (p.Leu762Pro)
|
rs2080576437
|
|
NM_000051.4(ATM):c.2285T>G (p.Leu762Arg)
|
|
|
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)
|
rs1064795831
|
|
NM_000051.4(ATM):c.2289T>C (p.Phe763=)
|
|
|
NM_000051.4(ATM):c.2289_2295del (p.Phe763fs)
|
rs1555075690
|
|
NM_000051.4(ATM):c.2289del (p.Phe763fs)
|
|
|
NM_000051.4(ATM):c.228A>C (p.Arg76Ser)
|
rs1591451698
|
|
NM_000051.4(ATM):c.228A>G (p.Arg76=)
|
rs1591451698
|
|
NM_000051.4(ATM):c.2290A>C (p.Lys764Gln)
|
|
|
NM_000051.4(ATM):c.2290A>G (p.Lys764Glu)
|
|
|
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg)
|
rs2080576982
|
|
NM_000051.4(ATM):c.2294A>G (p.Asn765Ser)
|
|
|
NM_000051.4(ATM):c.2295T>C (p.Asn765=)
|
rs1444950103
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.2296A>G (p.Lys766Glu)
|
rs748125666
|
|
NM_000051.4(ATM):c.2297A>G (p.Lys766Arg)
|
|
|
NM_000051.4(ATM):c.2299A>G (p.Thr767Ala)
|
|
|
NM_000051.4(ATM):c.229A>C (p.Ile77Leu)
|
rs1064796032
|
|
NM_000051.4(ATM):c.229dup (p.Ile77fs)
|
rs1565346867
|
|
NM_000051.4(ATM):c.22C>T (p.Leu8=)
|
rs2135004594
|
|
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)
|
rs1565397179
|
|
NM_000051.4(ATM):c.2302A>G (p.Asn768Asp)
|
rs1591546447
|
|
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser)
|
rs2080577809
|
|
NM_000051.4(ATM):c.2303A>T (p.Asn768Ile)
|
|
|
NM_000051.4(ATM):c.2304T>C (p.Asn768=)
|
rs2135406753
|
|
NM_000051.4(ATM):c.2304T>G (p.Asn768Lys)
|
|
|
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)
|
rs2080577927
|
|
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys)
|
rs1591546453
|
|
NM_000051.4(ATM):c.2306A>G (p.Glu769Gly)
|
rs1377126475
|
|
NM_000051.4(ATM):c.2307G>A (p.Glu769=)
|
|
|
NM_000051.4(ATM):c.2308G>A (p.Glu770Lys)
|
rs1555075721
|
|
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)
|
rs1555075721
|
|
NM_000051.4(ATM):c.2312T>G (p.Phe771Cys)
|
|
|
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly)
|
rs1565397219
|
|
NM_000051.4(ATM):c.2316A>C (p.Arg772Ser)
|
rs2135407049
|
|
NM_000051.4(ATM):c.2316_2317del (p.Arg772fs)
|
|
|
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu)
|
rs876659084
|
|
NM_000051.4(ATM):c.2319T>C (p.Ile773=)
|
|
|
NM_000051.4(ATM):c.2319T>G (p.Ile773Met)
|
rs2080578910
|
|
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp)
|
rs1555075727
|
|
NM_000051.4(ATM):c.2321G>T (p.Gly774Val)
|
rs1555075727
|
|
NM_000051.4(ATM):c.2325C>A (p.Ser775=)
|
|
|
NM_000051.4(ATM):c.2326T>C (p.Leu776=)
|
rs762937809
|
|
NM_000051.4(ATM):c.2329A>C (p.Arg777=)
|
rs1565397263
|
|
NM_000051.4(ATM):c.2329A>T (p.Arg777Ter)
|
rs1565397263
|
|
NM_000051.4(ATM):c.232G>A (p.Ala78Thr)
|
rs878853493
|
|
NM_000051.4(ATM):c.2330G>A (p.Arg777Lys)
|
rs876660432
|
|
NM_000051.4(ATM):c.2331A>T (p.Arg777Ser)
|
|
|
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp)
|
rs1555075751
|
|
NM_000051.4(ATM):c.2334T>C (p.Asn778=)
|
rs1555075758
|
|
NM_000051.4(ATM):c.2335A>G (p.Met779Val)
|
|
|
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del)
|
rs1555075763
|
|
NM_000051.4(ATM):c.2336T>G (p.Met779Arg)
|
|
|
NM_000051.4(ATM):c.2337G>A (p.Met779Ile)
|
rs1227866298
|
|
NM_000051.4(ATM):c.2338A>G (p.Met780Val)
|
rs587781446
|
|
NM_000051.4(ATM):c.2339T>C (p.Met780Thr)
|
|
|
NM_000051.4(ATM):c.233C>G (p.Ala78Gly)
|
rs876659669
|
|
NM_000051.4(ATM):c.2341C>G (p.Gln781Glu)
|
rs1555075781
|
|
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)
|
rs1555075781
|
|
NM_000051.4(ATM):c.2343G>A (p.Gln781=)
|
rs2135407606
|
|
NM_000051.4(ATM):c.2345T>C (p.Leu782Pro)
|
rs2135407647
|
|
NM_000051.4(ATM):c.2345dup (p.Cys783fs)
|
rs1591546645
|
|
NM_000051.4(ATM):c.2346A>C (p.Leu782=)
|
rs730881285
|
|
NM_000051.4(ATM):c.2347T>C (p.Cys783Arg)
|
rs1555075786
|
|
NM_000051.4(ATM):c.2347T>G (p.Cys783Gly)
|
rs1555075786
|
|
NM_000051.4(ATM):c.234A>G (p.Ala78=)
|
rs1555055145
|
|
NM_000051.4(ATM):c.2351C>A (p.Thr784Lys)
|
rs2135407791
|
|
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile)
|
rs2135407791
|
|
NM_000051.4(ATM):c.2352A>G (p.Thr784=)
|
rs759679953
|
|
NM_000051.4(ATM):c.2352A>T (p.Thr784=)
|
rs759679953
|
|
NM_000051.4(ATM):c.2352_2353del (p.Arg785fs)
|
|
|
NM_000051.4(ATM):c.2354G>T (p.Arg785Leu)
|
rs587782128
|
|
NM_000051.4(ATM):c.2355T>C (p.Arg785=)
|
rs1555075801
|
|
NM_000051.4(ATM):c.2356T>C (p.Cys786Arg)
|
rs1565397441
|
|
NM_000051.4(ATM):c.2356T>G (p.Cys786Gly)
|
|
|
NM_000051.4(ATM):c.2357G>A (p.Cys786Tyr)
|
|
|
NM_000051.4(ATM):c.2358C>T (p.Cys786=)
|
|
|
NM_000051.4(ATM):c.2360T>G (p.Leu787Trp)
|
rs2135408030
|
|
NM_000051.4(ATM):c.2361G>T (p.Leu787Phe)
|
rs2080584367
|
|
NM_000051.4(ATM):c.2362A>G (p.Ser788Gly)
|
rs641252
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
NM_000051.4(ATM):c.2363_2364del (p.Ser788fs)
|
rs2080584788
|
|
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)
|
rs2135408164
|
|
NM_000051.4(ATM):c.2364C>T (p.Ser788=)
|
rs2135408164
|
|
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser)
|
rs1591546766
|
|
NM_000051.4(ATM):c.2367C>G (p.Asn789Lys)
|
rs2080585059
|
|
NM_000051.4(ATM):c.2367C>T (p.Asn789=)
|
rs2080585059
|
|
NM_000051.4(ATM):c.2368T>C (p.Cys790Arg)
|
rs1555075810
|
|
NM_000051.4(ATM):c.2369G>A (p.Cys790Tyr)
|
|
|
NM_000051.4(ATM):c.236A>G (p.Lys79Arg)
|
rs1591451757
|
|
NM_000051.4(ATM):c.2370T>C (p.Cys790=)
|
|
|
NM_000051.4(ATM):c.2371A>G (p.Thr791Ala)
|
rs1555075814
|
|
NM_000051.4(ATM):c.2371del (p.Thr791fs)
|
|
|
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile)
|
rs2135408339
|
|
NM_000051.4(ATM):c.2376+11C>T
|
|
|
NM_000051.4(ATM):c.2376+14C>A
|
rs2135408701
|
|
NM_000051.4(ATM):c.2376+16del
|
rs779169817
|
|
NM_000051.4(ATM):c.2376+17C>G
|
|
|
NM_000051.4(ATM):c.2376+17C>T
|
rs1555075846
|
|
NM_000051.4(ATM):c.2376+17_2376+18del
|
|
|
NM_000051.4(ATM):c.2376+18T>A
|
|
|
NM_000051.4(ATM):c.2376+18T>C
|
rs1555075849
|
|
NM_000051.4(ATM):c.2376+1G>A
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+1G>T
|
rs730881347
|
|
NM_000051.4(ATM):c.2376+20G>A
|
rs140364468
|
|
NM_000051.4(ATM):c.2376+20_2376+22del
|
rs1171212629
|
|
NM_000051.4(ATM):c.2376+2T>C
|
rs2135408476
|
|
NM_000051.4(ATM):c.2376+2T>G
|
|
|
NM_000051.4(ATM):c.2376+2dup
|
|
|
NM_000051.4(ATM):c.2376+3A>G
|
rs758083563
|
|
NM_000051.4(ATM):c.2376+40A>G
|
|
|
NM_000051.4(ATM):c.2376+44T>G
|
rs777474183
|
|
NM_000051.4(ATM):c.2376+4A>G
|
|
|
NM_000051.4(ATM):c.2376+5G>T
|
|
|
NM_000051.4(ATM):c.2376+5_2376+13dup
|
|
|
NM_000051.4(ATM):c.2376+7T>A
|
|
|
NM_000051.4(ATM):c.2376+7T>C
|
|
|
NM_000051.4(ATM):c.2376+7T>G
|
rs2135408560
|
|
NM_000051.4(ATM):c.2376+8T>A
|
rs2135408581
|
|
NM_000051.4(ATM):c.2376+8T>C
|
|
|
NM_000051.4(ATM):c.2376+8T>G
|
rs2135408581
|
|
NM_000051.4(ATM):c.2376+9TTC[2]
|
rs757318914
|
|
NM_000051.4(ATM):c.2376G>A (p.Lys792=)
|
rs754267376
|
|
NM_000051.4(ATM):c.2377-10T>C
|
|
|
NM_000051.4(ATM):c.2377-11C>A
|
rs2080691297
|
|
NM_000051.4(ATM):c.2377-11C>G
|
rs2080691297
|
|
NM_000051.4(ATM):c.2377-12T>C
|
|
|
NM_000051.4(ATM):c.2377-14del
|
|
|
NM_000051.4(ATM):c.2377-15T>C
|
rs2080690965
|
|
NM_000051.4(ATM):c.2377-15_2377-12del
|
rs730881298
|
|
NM_000051.4(ATM):c.2377-16T>A
|
rs1009142114
|
|
NM_000051.4(ATM):c.2377-17G>C
|
rs192105604
|
|
NM_000051.4(ATM):c.2377-20_2377-18del
|
rs2080689774
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377-2A>T
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377-350A>G
|
|
|
NM_000051.4(ATM):c.2377-397A>G
|
rs869312476
|
|
NM_000051.4(ATM):c.2377-3C>T
|
|
|
NM_000051.4(ATM):c.2377-5T>C
|
rs754206007
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
NM_000051.4(ATM):c.2377-9T>A
|
rs2080691443
|
|
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln)
|
rs587781583
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.2378A>G (p.Lys793Arg)
|
rs2080692590
|
|
NM_000051.4(ATM):c.237A>G (p.Lys79=)
|
rs1160350816
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg)
|
rs876658149
|
|
NM_000051.4(ATM):c.2380A>T (p.Ser794Cys)
|
rs876658149
|
|
NM_000051.4(ATM):c.2381G>C (p.Ser794Thr)
|
|
|
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg)
|
rs1555076601
|
|
NM_000051.4(ATM):c.2382T>C (p.Ser794=)
|
rs1555076601
|
|
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
|
|
|
NM_000051.4(ATM):c.2383C>G (p.Pro795Ala)
|
rs1060501651
|
|
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser)
|
rs1060501651
|
|
NM_000051.4(ATM):c.2385A>G (p.Pro795=)
|
rs2135420750
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2386A>G (p.Asn796Asp)
|
|
|
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)
|
rs201793499
|
|
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser)
|
rs1555076612
|
|
NM_000051.4(ATM):c.2387A>T (p.Asn796Ile)
|
rs1555076612
|
|
NM_000051.4(ATM):c.238C>A (p.Pro80Thr)
|
|
|
NM_000051.4(ATM):c.2390A>C (p.Lys797Thr)
|
rs2135420825
|
|
NM_000051.4(ATM):c.2391G>T (p.Lys797Asn)
|
|
|
NM_000051.4(ATM):c.2394T>C (p.Ile798=)
|
rs876659882
|
|
NM_000051.4(ATM):c.2395G>A (p.Ala799Thr)
|
rs1591551217
|
|
NM_000051.4(ATM):c.2396_2407del (p.Ala799_Phe803delinsVal)
|
|
|
NM_000051.4(ATM):c.2397A>C (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2397A>G (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2397A>T (p.Ala799=)
|
rs1060504279
|
|
NM_000051.4(ATM):c.2398T>C (p.Ser800Pro)
|
rs2135420989
|
|
NM_000051.4(ATM):c.2399C>T (p.Ser800Phe)
|
rs1196453563
|
|
NM_000051.4(ATM):c.239C>T (p.Pro80Leu)
|
rs876659996
|
|
NM_000051.4(ATM):c.23T>C (p.Leu8Pro)
|
rs1555053885
|
|
NM_000051.4(ATM):c.23T>G (p.Leu8Arg)
|
rs1555053885
|
|
NM_000051.4(ATM):c.2400T>A (p.Ser800=)
|
|
|
NM_000051.4(ATM):c.2401G>A (p.Gly801Ser)
|
rs1565399865
|
|
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp)
|
rs1591551289
|
|
NM_000051.4(ATM):c.2403C>A (p.Gly801=)
|
rs1264455310
|
|
NM_000051.4(ATM):c.2403C>T (p.Gly801=)
|
rs1264455310
|
|
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile)
|
rs2080695065
|
|
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu)
|
rs2080695065
|
|
NM_000051.4(ATM):c.2404T>G (p.Phe802Val)
|
|
|
NM_000051.4(ATM):c.2406T>C (p.Phe802=)
|
rs1472760933
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu)
|
rs2080695332
|
|
NM_000051.4(ATM):c.2408T>A (p.Phe803Tyr)
|
|
|
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser)
|
rs751218526
|
|
NM_000051.4(ATM):c.2408del (p.Phe803fs)
|
|
|
NM_000051.4(ATM):c.2409C>A (p.Phe803Leu)
|
rs1416444032
|
|
NM_000051.4(ATM):c.2409C>G (p.Phe803Leu)
|
rs1416444032
|
|
NM_000051.4(ATM):c.2409C>T (p.Phe803=)
|
rs1416444032
|
|
NM_000051.4(ATM):c.2410C>T (p.Leu804=)
|
rs1591551341
|
|
NM_000051.4(ATM):c.2411T>G (p.Leu804Arg)
|
|
|
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly)
|
rs780619951
|
|
NM_000051.4(ATM):c.2415A>G (p.Arg805=)
|
|
|
NM_000051.4(ATM):c.2416T>C (p.Leu806=)
|
rs1591551376
|
|
NM_000051.4(ATM):c.2417T>G (p.Leu806Trp)
|
rs1565399936
|
|
NM_000051.4(ATM):c.2418G>A (p.Leu806=)
|
rs587781296
|
|
NM_000051.4(ATM):c.2421A>G (p.Leu807=)
|
|
|
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile)
|
rs2080697096
|
|
NM_000051.4(ATM):c.2424A>C (p.Thr808=)
|
|
|
NM_000051.4(ATM):c.2424A>G (p.Thr808=)
|
rs1555076671
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426del (p.Thr808_Ser809insTer)
|
rs2135421629
|
|
NM_000051.4(ATM):c.2427A>G (p.Ser809=)
|
rs1591551435
|
|
NM_000051.4(ATM):c.2428A>T (p.Lys810Ter)
|
|
|
NM_000051.4(ATM):c.2429A>T (p.Lys810Met)
|
rs2080698039
|
|
NM_000051.4(ATM):c.2429del (p.Lys810fs)
|
|
|
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
|
|
|
NM_000051.4(ATM):c.242A>G (p.Asn81Ser)
|
rs2135034894
|
|
NM_000051.4(ATM):c.242dup (p.Asn81fs)
|
rs1591451795
|
|
NM_000051.4(ATM):c.2430G>A (p.Lys810=)
|
rs1555076689
|
|
NM_000051.4(ATM):c.2431C>G (p.Leu811Val)
|
|
|
NM_000051.4(ATM):c.2431C>T (p.Leu811=)
|
rs2135421739
|
|
NM_000051.4(ATM):c.2432del (p.Leu811fs)
|
rs2135421772
|
|
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.2436G>T (p.Met812Ile)
|
|
|
NM_000051.4(ATM):c.2438A>C (p.Asn813Thr)
|
|
|
NM_000051.4(ATM):c.2438A>G (p.Asn813Ser)
|
|
|
NM_000051.4(ATM):c.2438del (p.Asn813fs)
|
rs2135421887
|
|
NM_000051.4(ATM):c.2439T>A (p.Asn813Lys)
|
|
|
NM_000051.4(ATM):c.243T>C (p.Asn81=)
|
rs1591451819
|
|
NM_000051.4(ATM):c.2440G>A (p.Asp814Asn)
|
rs2135421927
|
|
NM_000051.4(ATM):c.2440G>T (p.Asp814Tyr)
|
|
|
NM_000051.4(ATM):c.2441A>T (p.Asp814Val)
|
rs1565400035
|
|
NM_000051.4(ATM):c.2441del (p.Asp814fs)
|
rs1565400045
|
|
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.2444T>C (p.Ile815Thr)
|
rs2135422030
|
|
NM_000051.4(ATM):c.2444T>G (p.Ile815Ser)
|
|
|
NM_000051.4(ATM):c.2445T>G (p.Ile815Met)
|
rs2080699276
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
NM_000051.4(ATM):c.2447C>G (p.Ala816Gly)
|
rs1351798568
|
|
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn)
|
rs587778067
|
|
NM_000051.4(ATM):c.2449G>T (p.Asp817Tyr)
|
rs587778067
|
|
NM_000051.4(ATM):c.244G>A (p.Val82Ile)
|
rs1412024666
|
|
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly)
|
rs587779821
|
|
NM_000051.4(ATM):c.2450A>T (p.Asp817Val)
|
rs587779821
|
|
NM_000051.4(ATM):c.2451T>G (p.Asp817Glu)
|
|
|
NM_000051.4(ATM):c.2452A>C (p.Ile818Leu)
|
rs2080700458
|
|
NM_000051.4(ATM):c.2452A>G (p.Ile818Val)
|
rs2080700458
|
|
NM_000051.4(ATM):c.2453T>C (p.Ile818Thr)
|
rs1591551563
|
|
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)
|
rs775644968
|
|
NM_000051.4(ATM):c.2455_2460del (p.Cys819_Lys820del)
|
|
|
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr)
|
rs1591551588
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu)
|
rs2080701196
|
|
NM_000051.4(ATM):c.2458A>T (p.Lys820Ter)
|
|
|
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)
|
|
|
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr)
|
rs1555076748
|
|
NM_000051.4(ATM):c.2462del (p.Ser821fs)
|
rs2080701610
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2464_2465dup (p.Leu822fs)
|
rs2135422402
|
|
NM_000051.4(ATM):c.2464_2466+2del
|
rs2135422352
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2465dup (p.Leu822fs)
|
|
|
NM_000051.4(ATM):c.2466+10C>A
|
rs759158068
|
|
NM_000051.4(ATM):c.2466+10C>T
|
rs759158068
|
|
NM_000051.4(ATM):c.2466+10_2466+16del
|
|
|
NM_000051.4(ATM):c.2466+13C>G
|
|
|
NM_000051.4(ATM):c.2466+16G>A
|
rs2135422757
|
|
NM_000051.4(ATM):c.2466+16_2466+28del
|
rs1555076777
|
|
NM_000051.4(ATM):c.2466+19T>C
|
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2466+20T>C
|
|
|
NM_000051.4(ATM):c.2466+2T>A
|
rs878853495
|
|
NM_000051.4(ATM):c.2466+2T>C
|
|
|
NM_000051.4(ATM):c.2466+2T>G
|
rs878853495
|
|
NM_000051.4(ATM):c.2466+3A>C
|
|
|
NM_000051.4(ATM):c.2466+3A>G
|
|
|
NM_000051.4(ATM):c.2466+4A>C
|
rs563482577
|
|
NM_000051.4(ATM):c.2466+4A>G
|
rs563482577
|
|
NM_000051.4(ATM):c.2466+4_2466+7del
|
|
|
NM_000051.4(ATM):c.2466+5G>A
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+5G>T
|
rs1064795969
|
|
NM_000051.4(ATM):c.2466+6T>C
|
rs2135422532
|
|
NM_000051.4(ATM):c.2466+7A>T
|
rs55812024
|
|
NM_000051.4(ATM):c.2466+8T>A
|
rs765619483
|
|
NM_000051.4(ATM):c.2466+8T>C
|
rs765619483
|
|
NM_000051.4(ATM):c.2466+9G>A
|
|
|
NM_000051.4(ATM):c.2466+9G>T
|
rs2135422617
|
|
NM_000051.4(ATM):c.2466+9dup
|
|
|
NM_000051.4(ATM):c.2466A>C (p.Leu822Phe)
|
rs747108452
|
|
NM_000051.4(ATM):c.2467-11C>G
|
|
|
NM_000051.4(ATM):c.2467-11C>T
|
rs1267435091
|
|
NM_000051.4(ATM):c.2467-12T>C
|
rs1469467036
|
|
NM_000051.4(ATM):c.2467-13C>G
|
|
|
NM_000051.4(ATM):c.2467-17G>A
|
|
|
NM_000051.4(ATM):c.2467-17_2467-14del
|
|
|
NM_000051.4(ATM):c.2467-19T>G
|
rs2135504690
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
NM_000051.4(ATM):c.2467-20T>G
|
|
|
NM_000051.4(ATM):c.2467-277C>G
|
rs4987967
|
|
NM_000051.4(ATM):c.2467-2A>G
|
rs1555082050
|
|
NM_000051.4(ATM):c.2467-2A>T
|
rs1555082050
|
|
NM_000051.4(ATM):c.2467-48G>A
|
|
|
NM_000051.4(ATM):c.2467-4G>A
|
rs1555082048
|
|
NM_000051.4(ATM):c.2467-4G>T
|
rs1555082048
|
|
NM_000051.4(ATM):c.2467-7dup
|
rs762495417
|
|
NM_000051.4(ATM):c.2467-8C>G
|
rs1425701157
|
|
NM_000051.4(ATM):c.2467-8C>T
|
rs1425701157
|
|
NM_000051.4(ATM):c.2467-90C>T
|
rs2135503255
|
|
NM_000051.4(ATM):c.2467G>A (p.Ala823Thr)
|
rs786202895
|
|
NM_000051.4(ATM):c.2467G>C (p.Ala823Pro)
|
|
|
NM_000051.4(ATM):c.2467G>T (p.Ala823Ser)
|
rs786202895
|
|
NM_000051.4(ATM):c.2468C>T (p.Ala823Val)
|
rs1591587044
|
|
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
|
|
|
NM_000051.4(ATM):c.246A>T (p.Val82=)
|
|
|
NM_000051.4(ATM):c.2470T>C (p.Ser824Pro)
|
|
|
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe)
|
rs1555082060
|
|
NM_000051.4(ATM):c.2472C>G (p.Ser824=)
|
rs786203289
|
|
NM_000051.4(ATM):c.2472C>T (p.Ser824=)
|
rs786203289
|
|
NM_000051.4(ATM):c.2473T>G (p.Phe825Val)
|
rs2081300268
|
|
NM_000051.4(ATM):c.2475dup (p.Ile826fs)
|
rs1591587103
|
|
NM_000051.4(ATM):c.2476A>G (p.Ile826Val)
|
rs587782397
|
|
NM_000051.4(ATM):c.2478C>G (p.Ile826Met)
|
rs1591587125
|
|
NM_000051.4(ATM):c.2478C>T (p.Ile826=)
|
|
|
NM_000051.4(ATM):c.2480A>C (p.Lys827Thr)
|
rs372230498
|
|
NM_000051.4(ATM):c.2481A>G (p.Lys827=)
|
rs2135505455
|
|
NM_000051.4(ATM):c.2483A>T (p.Lys828Met)
|
rs2081301026
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.2484G>A (p.Lys828=)
|
|
|
NM_000051.4(ATM):c.2484G>T (p.Lys828Asn)
|
|
|
NM_000051.4(ATM):c.2484del (p.Lys828fs)
|
|
|
NM_000051.4(ATM):c.2485C>A (p.Pro829Thr)
|
rs1060501546
|
|
NM_000051.4(ATM):c.2485C>G (p.Pro829Ala)
|
rs1060501546
|
|
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln)
|
rs1565416001
|
|
NM_000051.4(ATM):c.2486C>G (p.Pro829Arg)
|
|
|
NM_000051.4(ATM):c.2486C>T (p.Pro829Leu)
|
rs1565416001
|
|
NM_000051.4(ATM):c.2487A>G (p.Pro829=)
|
rs1330586139
|
|
NM_000051.4(ATM):c.2487A>T (p.Pro829=)
|
rs1330586139
|
|
NM_000051.4(ATM):c.2487dup (p.Phe830fs)
|
rs2135505571
|
|
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser)
|
rs773582901
|
|
NM_000051.4(ATM):c.248C>T (p.Ser83Leu)
|
|
|
NM_000051.4(ATM):c.248_249delinsT (p.Ser83fs)
|
|
|
NM_000051.4(ATM):c.248del (p.Val82_Ser83insTer)
|
rs2135035121
|
|
NM_000051.4(ATM):c.2490T>G (p.Phe830Leu)
|
|
|
NM_000051.4(ATM):c.2491G>A (p.Asp831Asn)
|
rs1060501595
|
|
NM_000051.4(ATM):c.2491G>T (p.Asp831Tyr)
|
rs1060501595
|
|
NM_000051.4(ATM):c.2492A>T (p.Asp831Val)
|
rs587781352
|
|
NM_000051.4(ATM):c.2493C>T (p.Asp831=)
|
rs2135505712
|
|
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser)
|
rs2229022
|
|
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)
|
rs2229022
|
|
NM_000051.4(ATM):c.2494dup (p.Arg832fs)
|
rs1131691165
|
|
NM_000051.4(ATM):c.2495G>C (p.Arg832Pro)
|
rs199875915
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
NM_000051.4(ATM):c.2496T>A (p.Arg832=)
|
rs2081302055
|
|
NM_000051.4(ATM):c.2497G>A (p.Gly833Arg)
|
rs876658804
|
|
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)
|
rs876658804
|
|
NM_000051.4(ATM):c.2498G>A (p.Gly833Glu)
|
rs552010421
|
|
NM_000051.4(ATM):c.2499A>C (p.Gly833=)
|
rs1060504263
|
|
NM_000051.4(ATM):c.249A>C (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.249A>G (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.249A>T (p.Ser83=)
|
rs1591451851
|
|
NM_000051.4(ATM):c.24G>A (p.Leu8=)
|
rs1555053888
|
|
NM_000051.4(ATM):c.24_26del (p.Leu9del)
|
|
|
NM_000051.4(ATM):c.24_29dup (p.Leu9_Ile10insMetLeu)
|
|
|
NM_000051.4(ATM):c.2500G>A (p.Glu834Lys)
|
rs876660430
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
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.2502A>G (p.Glu834=)
|
rs1591587377
|
|
NM_000051.4(ATM):c.2502del (p.Glu834_Val835insTer)
|
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2503G>T (p.Val835Leu)
|
rs757151992
|
|
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)
|
rs2081303007
|
|
NM_000051.4(ATM):c.2504T>A (p.Val835Glu)
|
rs765118015
|
|
NM_000051.4(ATM):c.2504T>C (p.Val835Ala)
|
|
|
NM_000051.4(ATM):c.2505A>G (p.Val835=)
|
rs1057523506
|
|
NM_000051.4(ATM):c.2508A>G (p.Glu836=)
|
rs2135506209
|
|
NM_000051.4(ATM):c.2508A>T (p.Glu836Asp)
|
rs2135506209
|
|
NM_000051.4(ATM):c.2508dup (p.Ser837fs)
|
rs770396940
|
|
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)
|
rs2081303434
|
|
NM_000051.4(ATM):c.2510C>T (p.Ser837Leu)
|
|
|
NM_000051.4(ATM):c.2511A>G (p.Ser837=)
|
|
|
NM_000051.4(ATM):c.2512A>G (p.Met838Val)
|
rs1555082132
|
|
NM_000051.4(ATM):c.2513T>G (p.Met838Arg)
|
|
|
NM_000051.4(ATM):c.2514G>T (p.Met838Ile)
|
rs2135506364
|
|
NM_000051.4(ATM):c.2515G>A (p.Glu839Lys)
|
|
|
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln)
|
rs1246807453
|
|
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala)
|
rs1591587459
|
|
NM_000051.4(ATM):c.2516A>G (p.Glu839Gly)
|
|
|
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
|
|
|
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp)
|
rs1060501697
|
|
NM_000051.4(ATM):c.2518G>A (p.Asp840Asn)
|
rs879189597
|
|
NM_000051.4(ATM):c.2518G>C (p.Asp840His)
|
rs879189597
|
|
NM_000051.4(ATM):c.2519A>G (p.Asp840Gly)
|
rs786202605
|
|
NM_000051.4(ATM):c.251C>T (p.Ala84Val)
|
rs587781937
|
|
NM_000051.4(ATM):c.2520T>C (p.Asp840=)
|
rs1591587498
|
|
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu)
|
rs1591587498
|
|
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
|
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly)
|
rs587781812
|
|
NM_000051.4(ATM):c.2522A>T (p.Asp841Val)
|
|
|
NM_000051.4(ATM):c.2523T>C (p.Asp841=)
|
rs758234872
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser)
|
rs1555082164
|
|
NM_000051.4(ATM):c.2525C>T (p.Thr842Ile)
|
rs1555082164
|
|
NM_000051.4(ATM):c.2526T>A (p.Thr842=)
|
|
|
NM_000051.4(ATM):c.2526T>C (p.Thr842=)
|
rs1565416272
|
|
NM_000051.4(ATM):c.2528_2529del (p.Asn843fs)
|
|
|
NM_000051.4(ATM):c.2529T>C (p.Asn843=)
|
rs876660189
|
|
NM_000051.4(ATM):c.252C>A (p.Ala84=)
|
|
|
NM_000051.4(ATM):c.252C>T (p.Ala84=)
|
|
|
NM_000051.4(ATM):c.2530G>A (p.Gly844Arg)
|
|
|
NM_000051.4(ATM):c.2530G>T (p.Gly844Ter)
|
|
|
NM_000051.4(ATM):c.2530_2535del (p.Gly844_Asn845del)
|
rs956305036
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala)
|
rs587781808
|
|
NM_000051.4(ATM):c.2532A>C (p.Gly844=)
|
rs755261743
|
|
NM_000051.4(ATM):c.2532A>T (p.Gly844=)
|
|
|
NM_000051.4(ATM):c.2533A>C (p.Asn845His)
|
rs1591587679
|
|
NM_000051.4(ATM):c.2534A>G (p.Asn845Ser)
|
rs1060501591
|
|
NM_000051.4(ATM):c.2534del (p.Asn845fs)
|
rs1591587673
|
|
NM_000051.4(ATM):c.2536C>G (p.Leu846Val)
|
rs1555082186
|
|
NM_000051.4(ATM):c.2537T>C (p.Leu846Pro)
|
rs2135507057
|
|
NM_000051.4(ATM):c.2538A>C (p.Leu846=)
|
rs567045160
|
|
NM_000051.4(ATM):c.2538A>G (p.Leu846=)
|
rs567045160
|
|
NM_000051.4(ATM):c.2539A>G (p.Met847Val)
|
rs587779823
|
|
NM_000051.4(ATM):c.2539A>T (p.Met847Leu)
|
rs587779823
|
|
NM_000051.4(ATM):c.2539_2543del (p.Met847fs)
|
|
|
NM_000051.4(ATM):c.253T>C (p.Ser85Pro)
|
|
|
NM_000051.4(ATM):c.2540T>A (p.Met847Lys)
|
rs1382712243
|
|
NM_000051.4(ATM):c.2540T>C (p.Met847Thr)
|
|
|
NM_000051.4(ATM):c.2541G>A (p.Met847Ile)
|
rs864622131
|
|
NM_000051.4(ATM):c.2542G>A (p.Glu848Lys)
|
rs879254046
|
|
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln)
|
rs879254046
|
|
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)
|
rs879254046
|
|
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly)
|
rs1060501555
|
|
NM_000051.4(ATM):c.2544G>A (p.Glu848=)
|
rs1060501601
|
|
NM_000051.4(ATM):c.2544G>C (p.Glu848Asp)
|
rs1060501601
|
|
NM_000051.4(ATM):c.2544G>T (p.Glu848Asp)
|
rs1060501601
|
|
NM_000051.4(ATM):c.2545G>A (p.Val849Met)
|
rs1591587875
|
|
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)
|
rs1591587875
|
|
NM_000051.4(ATM):c.2546T>C (p.Val849Ala)
|
rs1555082209
|
|
NM_000051.4(ATM):c.2547G>A (p.Val849=)
|
rs1060504262
|
|
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)
|
rs587782280
|
|
NM_000051.4(ATM):c.2548del (p.Glu850fs)
|
|
|
NM_000051.4(ATM):c.2549A>G (p.Glu850Gly)
|
rs876660456
|
|
NM_000051.4(ATM):c.2551G>A (p.Asp851Asn)
|
rs1555082218
|
|
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
|
|
|
NM_000051.4(ATM):c.2553T>A (p.Asp851Glu)
|
rs1064793513
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
NM_000051.4(ATM):c.2553_2638+61del
|
rs2135507457
|
|
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
|
|
|
NM_000051.4(ATM):c.2555A>C (p.Gln852Pro)
|
rs1265258461
|
|
NM_000051.4(ATM):c.2555A>G (p.Gln852Arg)
|
rs1265258461
|
|
NM_000051.4(ATM):c.2556G>A (p.Gln852=)
|
rs2081307368
|
|
NM_000051.4(ATM):c.2556G>C (p.Gln852His)
|
rs2081307368
|
|
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro)
|
rs876658913
|
|
NM_000051.4(ATM):c.2558C>T (p.Ser853Leu)
|
rs1555082235
|
|
NM_000051.4(ATM):c.2559A>C (p.Ser853=)
|
|
|
NM_000051.4(ATM):c.2559A>G (p.Ser853=)
|
rs2081307609
|
|
NM_000051.4(ATM):c.2559A>T (p.Ser853=)
|
rs2081307609
|
|
NM_000051.4(ATM):c.255A>C (p.Ser85=)
|
|
|
NM_000051.4(ATM):c.255A>G (p.Ser85=)
|
rs2135035403
|
|
NM_000051.4(ATM):c.2560T>C (p.Ser854Pro)
|
rs1060501632
|
|
NM_000051.4(ATM):c.2561C>G (p.Ser854Cys)
|
rs778123895
|
|
NM_000051.4(ATM):c.2561C>T (p.Ser854Phe)
|
|
|
NM_000051.4(ATM):c.2561_2564dup (p.Met855fs)
|
|
|
NM_000051.4(ATM):c.2562C>T (p.Ser854=)
|
|
|
NM_000051.4(ATM):c.2563A>C (p.Met855Leu)
|
|
|
NM_000051.4(ATM):c.2563A>G (p.Met855Val)
|
rs749844591
|
|
NM_000051.4(ATM):c.2563A>T (p.Met855Leu)
|
rs749844591
|
|
NM_000051.4(ATM):c.2564dup (p.Met855fs)
|
rs730881299
|
|
NM_000051.4(ATM):c.2565G>C (p.Met855Ile)
|
rs2081308163
|
|
NM_000051.4(ATM):c.2565G>T (p.Met855Ile)
|
rs2081308163
|
|
NM_000051.4(ATM):c.2566A>C (p.Asn856His)
|
rs774757757
|
|
NM_000051.4(ATM):c.2566A>G (p.Asn856Asp)
|
rs774757757
|
|
NM_000051.4(ATM):c.2566A>T (p.Asn856Tyr)
|
|
|
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs)
|
rs2135507893
|
|
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)
|
rs1555082253
|
|
NM_000051.4(ATM):c.2567A>T (p.Asn856Ile)
|
|
|
NM_000051.4(ATM):c.2567dup (p.Asn856fs)
|
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
NM_000051.4(ATM):c.256A>G (p.Thr86Ala)
|
rs1565347018
|
|
NM_000051.4(ATM):c.2570T>C (p.Leu857Pro)
|
|
|
NM_000051.4(ATM):c.2571A>T (p.Leu857=)
|
rs1191404395
|
|
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)
|
rs1555082257
|
|
NM_000051.4(ATM):c.2572_2573insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe858delinsTrpIleSerHisProTer)
|
|
|
NM_000051.4(ATM):c.2572_2574delinsA (p.Phe858fs)
|
|
|
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs)
|
rs1131691148
|
|
NM_000051.4(ATM):c.2574T>G (p.Phe858Leu)
|
rs2081309060
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.2575A>G (p.Asn859Asp)
|
|
|
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser)
|
rs1565416655
|
|
NM_000051.4(ATM):c.2578G>C (p.Asp860His)
|
rs587779825
|
|
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)
|
rs761251711
|
|
NM_000051.4(ATM):c.2579del (p.Asp860fs)
|
|
|
NM_000051.4(ATM):c.257C>T (p.Thr86Ile)
|
rs755326770
|
|
NM_000051.4(ATM):c.2580T>A (p.Asp860Glu)
|
rs1456550475
|
|
NM_000051.4(ATM):c.2581T>A (p.Tyr861Asn)
|
rs1565416692
|
|
NM_000051.4(ATM):c.2581T>C (p.Tyr861His)
|
rs1565416692
|
|
NM_000051.4(ATM):c.2582A>G (p.Tyr861Cys)
|
rs2081309790
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
NM_000051.4(ATM):c.2583C>G (p.Tyr861Ter)
|
|
|
NM_000051.4(ATM):c.2584C>A (p.Pro862Thr)
|
rs876660537
|
|
NM_000051.4(ATM):c.2584C>G (p.Pro862Ala)
|
rs876660537
|
|
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser)
|
rs876660537
|
|
NM_000051.4(ATM):c.2585C>A (p.Pro862His)
|
rs1565416725
|
|
NM_000051.4(ATM):c.2585C>G (p.Pro862Arg)
|
|
|
NM_000051.4(ATM):c.2585del (p.Pro862fs)
|
|
|
NM_000051.4(ATM):c.2586T>C (p.Pro862=)
|
rs2135508452
|
|
NM_000051.4(ATM):c.2587G>A (p.Asp863Asn)
|
rs2135508489
|
|
NM_000051.4(ATM):c.2587G>C (p.Asp863His)
|
rs2135508489
|
|
NM_000051.4(ATM):c.2587_2589dup (p.Asp863dup)
|
rs2081310087
|
|
NM_000051.4(ATM):c.2588A>G (p.Asp863Gly)
|
|
|
NM_000051.4(ATM):c.2588A>T (p.Asp863Val)
|
rs1591588390
|
|
NM_000051.4(ATM):c.258A>C (p.Thr86=)
|
|
|
NM_000051.4(ATM):c.258A>G (p.Thr86=)
|
rs777434093
|
|
NM_000051.4(ATM):c.2590A>C (p.Ser864Arg)
|
rs764842086
|
|
NM_000051.4(ATM):c.2590AGT[1] (p.Ser865del)
|
rs863224823
|
|
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn)
|
rs1555082306
|
|
NM_000051.4(ATM):c.2592T>C (p.Ser864=)
|
|
|
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg)
|
rs2081310612
|
|
NM_000051.4(ATM):c.2593A>G (p.Ser865Gly)
|
rs2081310612
|
|
NM_000051.4(ATM):c.2594G>A (p.Ser865Asn)
|
rs1591588450
|
|
NM_000051.4(ATM):c.2594G>T (p.Ser865Ile)
|
rs1591588450
|
|
NM_000051.4(ATM):c.2596G>A (p.Val866Ile)
|
rs2135508700
|
|
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
|
|
|
NM_000051.4(ATM):c.25C>T (p.Leu9Phe)
|
rs2078806539
|
|
NM_000051.4(ATM):c.2600G>A (p.Ser867Asn)
|
rs1591588485
|
|
NM_000051.4(ATM):c.2600G>C (p.Ser867Thr)
|
|
|
NM_000051.4(ATM):c.2601T>C (p.Ser867=)
|
|
|
NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs)
|
rs2135508789
|
|
NM_000051.4(ATM):c.2602G>A (p.Asp868Asn)
|
rs1591588501
|
|
NM_000051.4(ATM):c.2603A>T (p.Asp868Val)
|
rs750322758
|
|
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu)
|
rs145513717
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)
|
rs1057516944
|
|
NM_000051.4(ATM):c.2608A>C (p.Asn870His)
|
rs61734354
|
|
NM_000051.4(ATM):c.2608A>T (p.Asn870Tyr)
|
|
|
NM_000051.4(ATM):c.2609A>G (p.Asn870Ser)
|
rs2135508997
|
|
NM_000051.4(ATM):c.2610C>G (p.Asn870Lys)
|
rs587780618
|
|
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys)
|
rs1591588632
|
|
NM_000051.4(ATM):c.2611G>C (p.Glu871Gln)
|
rs1591588632
|
|
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly)
|
rs2081311812
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
NM_000051.4(ATM):c.2616T>C (p.Pro872=)
|
rs1591588691
|
|
NM_000051.4(ATM):c.2618G>A (p.Gly873Glu)
|
rs2081312461
|
|
NM_000051.4(ATM):c.2618G>C (p.Gly873Ala)
|
rs2081312461
|
|
NM_000051.4(ATM):c.2618G>T (p.Gly873Val)
|
rs2081312461
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly)
|
rs1555082338
|
|
NM_000051.4(ATM):c.2622G>A (p.Glu874=)
|
rs2135509315
|
|
NM_000051.4(ATM):c.2624G>T (p.Ser875Ile)
|
rs2081312995
|
|
NM_000051.4(ATM):c.2624del (p.Ser875fs)
|
rs1555082344
|
|
NM_000051.4(ATM):c.2625C>G (p.Ser875Arg)
|
rs1591588785
|
|
NM_000051.4(ATM):c.2625C>T (p.Ser875=)
|
rs1591588785
|
|
NM_000051.4(ATM):c.2626C>G (p.Gln876Glu)
|
|
|
NM_000051.4(ATM):c.2626C>T (p.Gln876Ter)
|
rs2135509419
|
|
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg)
|
rs1555082348
|
|
NM_000051.4(ATM):c.2627A>T (p.Gln876Leu)
|
|
|
NM_000051.4(ATM):c.2628A>C (p.Gln876His)
|
|
|
NM_000051.4(ATM):c.2628A>G (p.Gln876=)
|
rs1339119718
|
|
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly)
|
rs2081313542
|
|
NM_000051.4(ATM):c.262G>T (p.Ala88Ser)
|
rs1591451921
|
|
NM_000051.4(ATM):c.2631T>C (p.Ser877=)
|
|
|
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
|
|
|
NM_000051.4(ATM):c.2632A>G (p.Thr878Ala)
|
|
|
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
|
|
|
NM_000051.4(ATM):c.2633C>T (p.Thr878Ile)
|
|
|
NM_000051.4(ATM):c.2634C>G (p.Thr878=)
|
rs771444818
|
|
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+15A>C
|
|
|
NM_000051.4(ATM):c.2638+15A>G
|
|
|
NM_000051.4(ATM):c.2638+16C>A
|
rs1386019726
|
|
NM_000051.4(ATM):c.2638+16C>G
|
rs1386019726
|
|
NM_000051.4(ATM):c.2638+18A>G
|
rs1057521739
|
|
NM_000051.4(ATM):c.2638+18A>T
|
rs1057521739
|
|
NM_000051.4(ATM):c.2638+19C>A
|
rs1439350674
|
|
NM_000051.4(ATM):c.2638+19C>G
|
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.2638+1del
|
rs1131691153
|
|
NM_000051.4(ATM):c.2638+24G>A
|
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2638+2T>G
|
rs587779826
|
|
NM_000051.4(ATM):c.2638+304C>A
|
|
|
NM_000051.4(ATM):c.2638+4A>G
|
|
|
NM_000051.4(ATM):c.2638+5A>G
|
rs2081314537
|
|
NM_000051.4(ATM):c.2638+7A>G
|
rs1555082379
|
|
NM_000051.4(ATM):c.2638+9A>C
|
rs761592414
|
|
NM_000051.4(ATM):c.2638+9A>T
|
rs761592414
|
|
NM_000051.4(ATM):c.2638G>A (p.Gly880Ser)
|
|
|
NM_000051.4(ATM):c.2638G>C (p.Gly880Arg)
|
rs2135509665
|
|
NM_000051.4(ATM):c.2638_2638+7dup
|
rs2081313995
|
|
NM_000051.4(ATM):c.2639-13T>C
|
|
|
NM_000051.4(ATM):c.2639-15G>A
|
rs757723219
|
|
NM_000051.4(ATM):c.2639-15G>T
|
|
|
NM_000051.4(ATM):c.2639-17G>A
|
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
NM_000051.4(ATM):c.2639-1G>A
|
|
|
NM_000051.4(ATM):c.2639-20T>A
|
|
|
NM_000051.4(ATM):c.2639-20T>C
|
rs2135522472
|
|
NM_000051.4(ATM):c.2639-20T>G
|
|
|
NM_000051.4(ATM):c.2639-21A>G
|
rs2135522420
|
|
NM_000051.4(ATM):c.2639-22A>G
|
rs1555083055
|
|
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.2639-2A>G
|
rs1591593566
|
|
NM_000051.4(ATM):c.2639-382_2639-377del
|
rs1397425268
|
|
NM_000051.4(ATM):c.2639-384A>T
|
rs1131691154
|
|
NM_000051.4(ATM):c.2639-386_2639-381del
|
|
|
NM_000051.4(ATM):c.2639-4_2639-3del
|
rs1555083075
|
|
NM_000051.4(ATM):c.2639-50A>G
|
|
|
NM_000051.4(ATM):c.2639-6T>G
|
|
|
NM_000051.4(ATM):c.2639-7T>G
|
rs912886321
|
|
NM_000051.4(ATM):c.2639-7_2639-2del
|
|
|
NM_000051.4(ATM):c.2639-87del
|
rs4987970
|
|
NM_000051.4(ATM):c.2639-8A>G
|
rs779419160
|
|
NM_000051.4(ATM):c.2639-8del
|
rs2135522747
|
|
NM_000051.4(ATM):c.2639-9dup
|
|
|
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala)
|
rs2135522879
|
|
NM_000051.4(ATM):c.263C>A (p.Ala88Asp)
|
rs1565347056
|
|
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
|
|
|
NM_000051.4(ATM):c.2643dup (p.Ile882fs)
|
|
|
NM_000051.4(ATM):c.2644A>G (p.Ile882Val)
|
|
|
NM_000051.4(ATM):c.2646T>A (p.Ile882=)
|
rs1591593585
|
|
NM_000051.4(ATM):c.2646T>C (p.Ile882=)
|
rs1591593585
|
|
NM_000051.4(ATM):c.2648A>G (p.Asn883Ser)
|
rs2081380347
|
|
NM_000051.4(ATM):c.2649T>G (p.Asn883Lys)
|
rs1555083093
|
|
NM_000051.4(ATM):c.264C>T (p.Ala88=)
|
rs1555055190
|
|
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser)
|
rs1591593623
|
|
NM_000051.4(ATM):c.2652T>G (p.Pro884=)
|
rs2081380644
|
|
NM_000051.4(ATM):c.2653T>G (p.Leu885Val)
|
|
|
NM_000051.4(ATM):c.2654T>C (p.Leu885Ser)
|
rs1555083096
|
|
NM_000051.4(ATM):c.2654T>G (p.Leu885Ter)
|
rs1555083096
|
|
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)
|
rs1060501679
|
|
NM_000051.4(ATM):c.2656G>T (p.Ala886Ser)
|
rs575762025
|
|
NM_000051.4(ATM):c.2657C>G (p.Ala886Gly)
|
rs2081381149
|
|
NM_000051.4(ATM):c.2658T>C (p.Ala886=)
|
rs1591593665
|
|
NM_000051.4(ATM):c.2659G>A (p.Glu887Lys)
|
|
|
NM_000051.4(ATM):c.265T>C (p.Ser89Pro)
|
rs2135035804
|
|
NM_000051.4(ATM):c.2660A>C (p.Glu887Ala)
|
|
|
NM_000051.4(ATM):c.2662G>A (p.Glu888Lys)
|
|
|
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.2663_2664delinsT (p.Glu888fs)
|
|
|
NM_000051.4(ATM):c.2664A>G (p.Glu888=)
|
rs2135523410
|
|
NM_000051.4(ATM):c.2665dup (p.Tyr889fs)
|
rs2135523450
|
|
NM_000051.4(ATM):c.2666A>G (p.Tyr889Cys)
|
rs1064793034
|
|
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)
|
rs2081381578
|
|
NM_000051.4(ATM):c.2667T>C (p.Tyr889=)
|
rs2081381578
|
|
NM_000051.4(ATM):c.2668C>G (p.Leu890Val)
|
rs937133424
|
|
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
|
|
|
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro)
|
rs1411479824
|
|
NM_000051.4(ATM):c.2669T>G (p.Leu890Arg)
|
rs1411479824
|
|
NM_000051.4(ATM):c.266C>T (p.Ser89Phe)
|
rs375605135
|
|
NM_000051.4(ATM):c.2670G>A (p.Leu890=)
|
rs1555083123
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
NM_000051.4(ATM):c.2672C>T (p.Ser891Leu)
|
rs876660780
|
|
NM_000051.4(ATM):c.2674A>G (p.Lys892Glu)
|
|
|
NM_000051.4(ATM):c.2675A>C (p.Lys892Thr)
|
|
|
NM_000051.4(ATM):c.2676G>A (p.Lys892=)
|
rs1555083128
|
|
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn)
|
rs1555083128
|
|
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)
|
rs1555083131
|
|
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg)
|
rs876659776
|
|
NM_000051.4(ATM):c.2678A>T (p.Gln893Leu)
|
rs876659776
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
NM_000051.4(ATM):c.267C>A (p.Ser89=)
|
|
|
NM_000051.4(ATM):c.267C>T (p.Ser89=)
|
rs1555055198
|
|
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr)
|
rs1400094698
|
|
NM_000051.4(ATM):c.2681A>G (p.Asp894Gly)
|
rs113482790
|
|
NM_000051.4(ATM):c.2681A>T (p.Asp894Val)
|
rs113482790
|
|
NM_000051.4(ATM):c.2683C>A (p.Leu895Ile)
|
rs1299030225
|
|
NM_000051.4(ATM):c.2683C>T (p.Leu895=)
|
|
|
NM_000051.4(ATM):c.2685_2699dup (p.Asp899_Met900insIleLeuPheLeuAsp)
|
|
|
NM_000051.4(ATM):c.2686C>A (p.Leu896Ile)
|
|
|
NM_000051.4(ATM):c.2686C>G (p.Leu896Val)
|
rs747696133
|
|
NM_000051.4(ATM):c.2686C>T (p.Leu896Phe)
|
rs747696133
|
|
NM_000051.4(ATM):c.2686_2689del (p.Leu896fs)
|
|
|
NM_000051.4(ATM):c.268A>G (p.Arg90Gly)
|
rs868748140
|
|
NM_000051.4(ATM):c.2690T>A (p.Phe897Tyr)
|
|
|
NM_000051.4(ATM):c.2690T>C (p.Phe897Ser)
|
rs876658373
|
|
NM_000051.4(ATM):c.2691C>G (p.Phe897Leu)
|
rs878853496
|
|
NM_000051.4(ATM):c.2692T>G (p.Leu898Val)
|
rs2135524133
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
NM_000051.4(ATM):c.2694A>G (p.Leu898=)
|
|
|
NM_000051.4(ATM):c.2694A>T (p.Leu898Phe)
|
rs774395596
|
|
NM_000051.4(ATM):c.2695G>C (p.Asp899His)
|
|
|
NM_000051.4(ATM):c.2696A>G (p.Asp899Gly)
|
rs1555083190
|
|
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu)
|
rs786202978
|
|
NM_000051.4(ATM):c.2698A>T (p.Met900Leu)
|
|
|
NM_000051.4(ATM):c.2699T>C (p.Met900Thr)
|
rs863224558
|
|
NM_000051.4(ATM):c.2699T>G (p.Met900Arg)
|
|
|
NM_000051.4(ATM):c.26T>A (p.Leu9His)
|
|
|
NM_000051.4(ATM):c.2700G>A (p.Met900Ile)
|
rs1591593939
|
|
NM_000051.4(ATM):c.2700dup (p.Leu901fs)
|
rs1555083198
|
|
NM_000051.4(ATM):c.2701C>T (p.Leu901Phe)
|
rs863224559
|
|
NM_000051.4(ATM):c.2703C>G (p.Leu901=)
|
rs1315907364
|
|
NM_000051.4(ATM):c.2703C>T (p.Leu901=)
|
rs1315907364
|
|
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu)
|
rs2135524412
|
|
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.2706G>A (p.Lys902=)
|
rs2135524458
|
|
NM_000051.4(ATM):c.2708T>A (p.Phe903Tyr)
|
|
|
NM_000051.4(ATM):c.2708T>G (p.Phe903Cys)
|
rs1555083208
|
|
NM_000051.4(ATM):c.2709C>T (p.Phe903=)
|
rs2135524508
|
|
NM_000051.4(ATM):c.270G>A (p.Arg90=)
|
rs1313014736
|
|
NM_000051.4(ATM):c.270del (p.Arg90fs)
|
|
|
NM_000051.4(ATM):c.2715T>A (p.Cys905Ter)
|
|
|
NM_000051.4(ATM):c.2715T>G (p.Cys905Trp)
|
rs2081385130
|
|
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.2717del (p.Leu906fs)
|
|
|
NM_000051.4(ATM):c.2718G>T (p.Leu906Phe)
|
|
|
NM_000051.4(ATM):c.2719T>C (p.Cys907Arg)
|
rs2135524707
|
|
NM_000051.4(ATM):c.2719dup (p.Cys907fs)
|
|
|
NM_000051.4(ATM):c.271C>G (p.Gln91Glu)
|
|
|
NM_000051.4(ATM):c.271C>T (p.Gln91Ter)
|
rs2078888769
|
|
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr)
|
rs775371838
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
NM_000051.4(ATM):c.2720del (p.Cys907fs)
|
rs2135524751
|
|
NM_000051.4(ATM):c.2721T>C (p.Cys907=)
|
|
|
NM_000051.4(ATM):c.2722G>A (p.Val908Ile)
|
rs1190648236
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000051.4(ATM):c.2723del (p.Val908fs)
|
|
|
NM_000051.4(ATM):c.2724A>G (p.Val908=)
|
|
|
NM_000051.4(ATM):c.2724A>T (p.Val908=)
|
rs1555083247
|
|
NM_000051.4(ATM):c.2725A>G (p.Thr909Ala)
|
|
|
NM_000051.4(ATM):c.2725A>T (p.Thr909Ser)
|
rs786203175
|
|
NM_000051.4(ATM):c.2726C>T (p.Thr909Ile)
|
rs1555083259
|
|
NM_000051.4(ATM):c.2727T>C (p.Thr909=)
|
|
|
NM_000051.4(ATM):c.2727del (p.Thr910fs)
|
rs1555083267
|
|
NM_000051.4(ATM):c.2729C>T (p.Thr910Ile)
|
rs1481694786
|
|
NM_000051.4(ATM):c.272A>C (p.Gln91Pro)
|
|
|
NM_000051.4(ATM):c.2730T>G (p.Thr910=)
|
rs1591594148
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser)
|
rs1591594169
|
|
NM_000051.4(ATM):c.2734C>A (p.Gln912Lys)
|
rs764409952
|
|
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu)
|
rs764409952
|
|
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)
|
rs764409952
|
|
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu)
|
rs730881353
|
|
NM_000051.4(ATM):c.2736G>C (p.Gln912His)
|
|
|
NM_000051.4(ATM):c.2737A>G (p.Thr913Ala)
|
rs2135525084
|
|
NM_000051.4(ATM):c.2737A>T (p.Thr913Ser)
|
rs2135525084
|
|
NM_000051.4(ATM):c.2738C>A (p.Thr913Asn)
|
rs1266220962
|
|
NM_000051.4(ATM):c.2738C>G (p.Thr913Ser)
|
|
|
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.2739C>T (p.Thr913=)
|
rs1555083293
|
|
NM_000051.4(ATM):c.2740A>G (p.Asn914Asp)
|
rs1591594250
|
|
NM_000051.4(ATM):c.2742T>C (p.Asn914=)
|
rs1057520522
|
|
NM_000051.4(ATM):c.2743A>G (p.Thr915Ala)
|
rs786203106
|
|
NM_000051.4(ATM):c.2744C>A (p.Thr915Asn)
|
rs876660912
|
|
NM_000051.4(ATM):c.2744C>G (p.Thr915Ser)
|
rs876660912
|
|
NM_000051.4(ATM):c.2745T>C (p.Thr915=)
|
rs2135525290
|
|
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
|
|
|
NM_000051.4(ATM):c.2746G>A (p.Val916Met)
|
rs2081388106
|
|
NM_000051.4(ATM):c.2747T>C (p.Val916Ala)
|
|
|
NM_000051.4(ATM):c.2748G>A (p.Val916=)
|
rs1050470790
|
|
NM_000051.4(ATM):c.2748_2749del (p.Ser917fs)
|
|
|
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
NM_000051.4(ATM):c.274A>C (p.Lys92Gln)
|
|
|
NM_000051.4(ATM):c.274A>G (p.Lys92Glu)
|
rs756969590
|
|
NM_000051.4(ATM):c.2750C>G (p.Ser917Cys)
|
rs2081388548
|
|
NM_000051.4(ATM):c.2750C>T (p.Ser917Phe)
|
rs2081388548
|
|
NM_000051.4(ATM):c.2750_2752del (p.Ser917del)
|
|
|
NM_000051.4(ATM):c.2751C>A (p.Ser917=)
|
|
|
NM_000051.4(ATM):c.2751C>G (p.Ser917=)
|
rs876659611
|
|
NM_000051.4(ATM):c.2752T>C (p.Phe918Leu)
|
rs1060501549
|
|
NM_000051.4(ATM):c.2754T>C (p.Phe918=)
|
rs758955717
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly)
|
rs1591594384
|
|
NM_000051.4(ATM):c.2757G>A (p.Arg919=)
|
|
|
NM_000051.4(ATM):c.2758G>A (p.Ala920Thr)
|
rs1555083326
|
|
NM_000051.4(ATM):c.2758G>T (p.Ala920Ser)
|
rs1555083326
|
|
NM_000051.4(ATM):c.2758del (p.Ala920fs)
|
rs2081389278
|
|
NM_000051.4(ATM):c.2759C>A (p.Ala920Glu)
|
rs780216086
|
|
NM_000051.4(ATM):c.2759C>T (p.Ala920Val)
|
rs780216086
|
|
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr)
|
rs1565419701
|
|
NM_000051.4(ATM):c.2762C>A (p.Ala921Asp)
|
rs1555083332
|
|
NM_000051.4(ATM):c.2763T>A (p.Ala921=)
|
rs1555083334
|
|
NM_000051.4(ATM):c.2763T>C (p.Ala921=)
|
rs1555083334
|
|
NM_000051.4(ATM):c.2764G>C (p.Asp922His)
|
rs786201670
|
|
NM_000051.4(ATM):c.2765A>G (p.Asp922Gly)
|
rs1555083339
|
|
NM_000051.4(ATM):c.2765A>T (p.Asp922Val)
|
rs1555083339
|
|
NM_000051.4(ATM):c.2766T>C (p.Asp922=)
|
rs2135525790
|
|
NM_000051.4(ATM):c.2767A>C (p.Ile923Leu)
|
|
|
NM_000051.4(ATM):c.2767A>G (p.Ile923Val)
|
|
|
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn)
|
rs2081390566
|
|
NM_000051.4(ATM):c.2768T>C (p.Ile923Thr)
|
rs2081390566
|
|
NM_000051.4(ATM):c.2769T>G (p.Ile923Met)
|
rs2081390749
|
|
NM_000051.4(ATM):c.276A>G (p.Lys92=)
|
rs786201137
|
|
NM_000051.4(ATM):c.276_284dup (p.Lys93_Gln95dup)
|
rs2078889184
|
|
NM_000051.4(ATM):c.2770C>A (p.Arg924=)
|
rs55723361
|
|
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)
|
rs587782298
|
|
NM_000051.4(ATM):c.2772G>A (p.Arg924=)
|
|
|
NM_000051.4(ATM):c.2772G>C (p.Arg924=)
|
rs777541280
|
|
NM_000051.4(ATM):c.2773A>G (p.Arg925Gly)
|
|
|
NM_000051.4(ATM):c.2774G>A (p.Arg925Lys)
|
|
|
NM_000051.4(ATM):c.2775G>A (p.Arg925=)
|
rs1591594506
|
|
NM_000051.4(ATM):c.2775G>T (p.Arg925Ser)
|
rs1591594506
|
|
NM_000051.4(ATM):c.2775del (p.Lys926fs)
|
rs1060501702
|
|
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
|
|
|
NM_000051.4(ATM):c.2779T>C (p.Leu927=)
|
rs2135526043
|
|
NM_000051.4(ATM):c.277A>C (p.Lys93Gln)
|
rs1555055234
|
|
NM_000051.4(ATM):c.277A>G (p.Lys93Glu)
|
rs1555055234
|
|
NM_000051.4(ATM):c.2781G>A (p.Leu927=)
|
rs770565353
|
|
NM_000051.4(ATM):c.2782T>C (p.Leu928=)
|
|
|
NM_000051.4(ATM):c.2783T>C (p.Leu928Ser)
|
rs2081392000
|
|
NM_000051.4(ATM):c.2783del (p.Leu927_Leu928insTer)
|
|
|
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
|
|
|
NM_000051.4(ATM):c.2784A>T (p.Leu928Phe)
|
|
|
NM_000051.4(ATM):c.2785A>G (p.Met929Val)
|
rs774067793
|
|
NM_000051.4(ATM):c.2786T>A (p.Met929Lys)
|
rs745737218
|
|
NM_000051.4(ATM):c.2786T>G (p.Met929Arg)
|
rs745737218
|
|
NM_000051.4(ATM):c.2788T>A (p.Leu930Ile)
|
rs2135526232
|
|
NM_000051.4(ATM):c.2788T>C (p.Leu930=)
|
rs2135526232
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.278A>G (p.Lys93Arg)
|
|
|
NM_000051.4(ATM):c.2790A>G (p.Leu930=)
|
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
NM_000051.4(ATM):c.2793T>C (p.Ile931=)
|
|
|
NM_000051.4(ATM):c.2794G>A (p.Asp932Asn)
|
|
|
NM_000051.4(ATM):c.2795A>G (p.Asp932Gly)
|
rs1060501623
|
|
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr)
|
rs1060501698
|
|
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)
|
|
|
NM_000051.4(ATM):c.2797T>G (p.Ser933Ala)
|
rs1060501698
|
|
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr)
|
rs56087610
|
|
NM_000051.4(ATM):c.2798C>T (p.Ser933Phe)
|
|
|
NM_000051.4(ATM):c.2799T>A (p.Ser933=)
|
|
|
NM_000051.4(ATM):c.2799T>C (p.Ser933=)
|
rs1555083381
|
|
NM_000051.4(ATM):c.2799T>G (p.Ser933=)
|
|
|
NM_000051.4(ATM):c.279G>A (p.Lys93=)
|
rs368196317
|
|
NM_000051.4(ATM):c.279G>C (p.Lys93Asn)
|
rs368196317
|
|
NM_000051.4(ATM):c.27T>C (p.Leu9=)
|
|
|
NM_000051.4(ATM):c.27del (p.Ile10fs)
|
rs1591445826
|
|
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
|
|
|
NM_000051.4(ATM):c.2801G>C (p.Ser934Thr)
|
rs1555083387
|
|
NM_000051.4(ATM):c.2802C>G (p.Ser934Arg)
|
rs876659788
|
|
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro)
|
rs35813135
|
|
NM_000051.4(ATM):c.2803A>G (p.Thr935Ala)
|
rs35813135
|
|
NM_000051.4(ATM):c.2803A>T (p.Thr935Ser)
|
|
|
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys)
|
rs3218708
|
|
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.2806C>G (p.Leu936Val)
|
rs1422401186
|
|
NM_000051.4(ATM):c.2806C>T (p.Leu936=)
|
rs1422401186
|
|
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.2808A>G (p.Leu936=)
|
rs547791214
|
|
NM_000051.4(ATM):c.2809G>C (p.Glu937Gln)
|
rs1565420027
|
|
NM_000051.4(ATM):c.2811A>C (p.Glu937Asp)
|
rs1060501705
|
|
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala)
|
rs1415567368
|
|
NM_000051.4(ATM):c.2812C>T (p.Pro938Ser)
|
rs1415567368
|
|
NM_000051.4(ATM):c.2813C>T (p.Pro938Leu)
|
rs1183804155
|
|
NM_000051.4(ATM):c.2814T>C (p.Pro938=)
|
|
|
NM_000051.4(ATM):c.2815A>T (p.Thr939Ser)
|
|
|
NM_000051.4(ATM):c.2816C>T (p.Thr939Ile)
|
|
|
NM_000051.4(ATM):c.2817C>G (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2817C>T (p.Thr939=)
|
rs1555083440
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
NM_000051.4(ATM):c.2819A>G (p.Lys940Arg)
|
rs762078586
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
NM_000051.4(ATM):c.281T>A (p.Met94Lys)
|
rs2078889761
|
|
NM_000051.4(ATM):c.2820A>C (p.Lys940Asn)
|
rs1477142492
|
|
NM_000051.4(ATM):c.2820A>T (p.Lys940Asn)
|
|
|
NM_000051.4(ATM):c.2821T>G (p.Ser941Ala)
|
rs1209997887
|
|
NM_000051.4(ATM):c.2823C>A (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2823C>T (p.Ser941=)
|
rs750504746
|
|
NM_000051.4(ATM):c.2824C>G (p.Leu942Val)
|
|
|
NM_000051.4(ATM):c.2826C>T (p.Leu942=)
|
rs1025892576
|
|
NM_000051.4(ATM):c.2827C>T (p.His943Tyr)
|
rs2135527318
|
|
NM_000051.4(ATM):c.2828A>C (p.His943Pro)
|
rs2081396482
|
|
NM_000051.4(ATM):c.2828A>G (p.His943Arg)
|
|
|
NM_000051.4(ATM):c.2829_2838+16delinsA
|
rs1565420196
|
|
NM_000051.4(ATM):c.282G>A (p.Met94Ile)
|
rs2078889859
|
|
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
|
|
|
NM_000051.4(ATM):c.2832G>C (p.Leu944=)
|
rs2135527476
|
|
NM_000051.4(ATM):c.2832G>T (p.Leu944=)
|
|
|
NM_000051.4(ATM):c.2832delinsTT (p.His945fs)
|
|
|
NM_000051.4(ATM):c.2833C>T (p.His945Tyr)
|
rs2081396911
|
|
NM_000051.4(ATM):c.2834A>G (p.His945Arg)
|
rs752053874
|
|
NM_000051.4(ATM):c.2836A>C (p.Met946Leu)
|
rs587781992
|
|
NM_000051.4(ATM):c.2838+10G>A
|
rs1555083482
|
|
NM_000051.4(ATM):c.2838+12T>A
|
|
|
NM_000051.4(ATM):c.2838+12T>C
|
|
|
NM_000051.4(ATM):c.2838+15A>G
|
|
|
NM_000051.4(ATM):c.2838+16T>C
|
|
|
NM_000051.4(ATM):c.2838+17G>C
|
|
|
NM_000051.4(ATM):c.2838+17G>T
|
|
|
NM_000051.4(ATM):c.2838+1G>A
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+1del
|
rs2081397580
|
|
NM_000051.4(ATM):c.2838+28_2838+29insA
|
|
|
NM_000051.4(ATM):c.2838+2T>A
|
|
|
NM_000051.4(ATM):c.2838+3del
|
|
|
NM_000051.4(ATM):c.2838+5G>A
|
rs1555083472
|
|
NM_000051.4(ATM):c.2838+5G>C
|
|
|
NM_000051.4(ATM):c.2838+5G>T
|
rs1555083472
|
|
NM_000051.4(ATM):c.2838+6T>C
|
rs781730571
|
|
NM_000051.4(ATM):c.2838+6T>G
|
|
|
NM_000051.4(ATM):c.2838+8A>G
|
rs1295524564
|
|
NM_000051.4(ATM):c.2838+9C>A
|
rs370160823
|
|
NM_000051.4(ATM):c.2838+9C>T
|
rs370160823
|
|
NM_000051.4(ATM):c.2838G>A (p.Met946Ile)
|
|
|
NM_000051.4(ATM):c.2838G>T (p.Met946Ile)
|
rs1317505466
|
|
NM_000051.4(ATM):c.2839-11T>A
|
rs1429589119
|
|
NM_000051.4(ATM):c.2839-11T>C
|
|
|
NM_000051.4(ATM):c.2839-12C>G
|
|
|
NM_000051.4(ATM):c.2839-13C>T
|
|
|
NM_000051.4(ATM):c.2839-14T>C
|
|
|
NM_000051.4(ATM):c.2839-15C>T
|
rs2081545815
|
|
NM_000051.4(ATM):c.2839-18dup
|
rs730881287
|
|
NM_000051.4(ATM):c.2839-1G>A
|
rs995271490
|
|
NM_000051.4(ATM):c.2839-1_2839del
|
rs2135547229
|
|
NM_000051.4(ATM):c.2839-25A>G
|
rs2135546675
|
|
NM_000051.4(ATM):c.2839-2A>C
|
rs1060501703
|
|
NM_000051.4(ATM):c.2839-2A>G
|
rs1060501703
|
|
NM_000051.4(ATM):c.2839-2A>T
|
rs1060501703
|
|
NM_000051.4(ATM):c.2839-351del
|
rs199782940
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.2839-3_2841del
|
rs2135547107
|
|
NM_000051.4(ATM):c.2839-418TG[8]
|
rs546616992
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.2839-4_2839-3insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGC
|
|
|
NM_000051.4(ATM):c.2839-577G>A
|
rs2135541900
|
|
NM_000051.4(ATM):c.2839-577G>C
|
rs2135541900
|
|
NM_000051.4(ATM):c.2839-578A>G
|
rs2135541882
|
|
NM_000051.4(ATM):c.2839-581G>A
|
rs2135541843
|
|
NM_000051.4(ATM):c.2839-581G>T
|
|
|
NM_000051.4(ATM):c.2839-5C>A
|
rs876660205
|
|
NM_000051.4(ATM):c.2839-5C>G
|
|
|
NM_000051.4(ATM):c.2839-6T>C
|
rs1338486619
|
|
NM_000051.4(ATM):c.2839-7A>G
|
rs1445472389
|
|
NM_000051.4(ATM):c.2839-8C>A
|
rs1555084596
|
|
NM_000051.4(ATM):c.2839-8C>T
|
rs1555084596
|
|
NM_000051.4(ATM):c.2839-9C>T
|
|
|
NM_000051.4(ATM):c.283C>G (p.Gln95Glu)
|
rs587781545
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys)
|
rs587779827
|
|
NM_000051.4(ATM):c.2840dup (p.Tyr947Ter)
|
rs1308599194
|
|
NM_000051.4(ATM):c.2841T>C (p.Tyr947=)
|
rs1167845678
|
|
NM_000051.4(ATM):c.2842C>G (p.Leu948Val)
|
rs1591602173
|
|
NM_000051.4(ATM):c.2842C>T (p.Leu948=)
|
rs1591602173
|
|
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln)
|
rs2135547361
|
|
NM_000051.4(ATM):c.2843T>C (p.Leu948Pro)
|
rs2135547361
|
|
NM_000051.4(ATM):c.2844A>C (p.Leu948=)
|
|
|
NM_000051.4(ATM):c.2844A>G (p.Leu948=)
|
rs1555084628
|
|
NM_000051.4(ATM):c.2845A>C (p.Met949Leu)
|
rs1348704826
|
|
NM_000051.4(ATM):c.2845A>G (p.Met949Val)
|
rs1348704826
|
|
NM_000051.4(ATM):c.2845A>T (p.Met949Leu)
|
|
|
NM_000051.4(ATM):c.2846T>C (p.Met949Thr)
|
rs1591602201
|
|
NM_000051.4(ATM):c.2847G>A (p.Met949Ile)
|
rs1565424213
|
|
NM_000051.4(ATM):c.2847G>C (p.Met949Ile)
|
rs1565424213
|
|
NM_000051.4(ATM):c.2848C>G (p.Leu950Val)
|
rs763064034
|
|
NM_000051.4(ATM):c.2849T>A (p.Leu950His)
|
rs786203054
|
|
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro)
|
rs786203054
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.284A>G (p.Gln95Arg)
|
|
|
NM_000051.4(ATM):c.284A>T (p.Gln95Leu)
|
|
|
NM_000051.4(ATM):c.2852T>C (p.Leu951Ser)
|
|
|
NM_000051.4(ATM):c.2854A>G (p.Lys952Glu)
|
|
|
NM_000051.4(ATM):c.2856G>A (p.Lys952=)
|
rs2135547604
|
|
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys)
|
rs1591602248
|
|
NM_000051.4(ATM):c.2858A>C (p.Glu953Ala)
|
rs2135547667
|
|
NM_000051.4(ATM):c.2858A>G (p.Glu953Gly)
|
|
|
NM_000051.4(ATM):c.285G>C (p.Gln95His)
|
rs1316615402
|
|
NM_000051.4(ATM):c.2860C>T (p.Leu954Phe)
|
rs2081549194
|
|
NM_000051.4(ATM):c.2861T>A (p.Leu954His)
|
rs1555084648
|
|
NM_000051.4(ATM):c.2861T>C (p.Leu954Pro)
|
|
|
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg)
|
rs1555084648
|
|
NM_000051.4(ATM):c.2862T>G (p.Leu954=)
|
rs1426256662
|
|
NM_000051.4(ATM):c.2864C>A (p.Pro955His)
|
rs1591602301
|
|
NM_000051.4(ATM):c.2865T>C (p.Pro955=)
|
rs1555084654
|
|
NM_000051.4(ATM):c.2865T>G (p.Pro955=)
|
rs1555084654
|
|
NM_000051.4(ATM):c.2867del (p.Gly956fs)
|
rs2135547839
|
|
NM_000051.4(ATM):c.2868A>G (p.Gly956=)
|
rs2135547882
|
|
NM_000051.4(ATM):c.2869G>T (p.Glu957Ter)
|
|
|
NM_000051.4(ATM):c.286G>A (p.Glu96Lys)
|
|
|
NM_000051.4(ATM):c.286G>T (p.Glu96Ter)
|
rs1591452100
|
|
NM_000051.4(ATM):c.2870A>T (p.Glu957Val)
|
|
|
NM_000051.4(ATM):c.2871A>G (p.Glu957=)
|
rs863224291
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2874G>A (p.Glu958=)
|
rs1555084671
|
|
NM_000051.4(ATM):c.2875T>C (p.Tyr959His)
|
|
|
NM_000051.4(ATM):c.2876A>C (p.Tyr959Ser)
|
rs1591602381
|
|
NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2877C>T (p.Tyr959=)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2878C>T (p.Pro960Ser)
|
|
|
NM_000051.4(ATM):c.2879C>G (p.Pro960Arg)
|
rs587779828
|
|
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu)
|
rs587779828
|
|
NM_000051.4(ATM):c.2880C>T (p.Pro960=)
|
rs1591602430
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2882del (p.Leu961fs)
|
rs587781805
|
|
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
|
|
|
NM_000051.4(ATM):c.2884C>T (p.Pro962Ser)
|
rs1377928885
|
|
NM_000051.4(ATM):c.2885C>G (p.Pro962Arg)
|
rs1591602470
|
|
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu)
|
rs1591602470
|
|
NM_000051.4(ATM):c.288A>G (p.Glu96=)
|
rs1226812648
|
|
NM_000051.4(ATM):c.2890del (p.Glu964fs)
|
|
|
NM_000051.4(ATM):c.2891A>T (p.Glu964Val)
|
rs2081551575
|
|
NM_000051.4(ATM):c.2893G>C (p.Asp965His)
|
rs1064793035
|
|
NM_000051.4(ATM):c.2894A>G (p.Asp965Gly)
|
|
|
NM_000051.4(ATM):c.2895T>C (p.Asp965=)
|
rs1424320755
|
|
NM_000051.4(ATM):c.2896G>A (p.Val966Ile)
|
rs1060501598
|
|
NM_000051.4(ATM):c.2896G>T (p.Val966Phe)
|
|
|
NM_000051.4(ATM):c.2897T>C (p.Val966Ala)
|
|
|
NM_000051.4(ATM):c.2897_2899delinsGCCAA (p.Val966fs)
|
rs730881301
|
|
NM_000051.4(ATM):c.2899del (p.Glu968fs)
|
|
|
NM_000051.4(ATM):c.289A>G (p.Ile97Val)
|
rs1565347206
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
NM_000051.4(ATM):c.28A>G (p.Ile10Val)
|
rs876660671
|
|
NM_000051.4(ATM):c.2900T>G (p.Leu967Arg)
|
|
|
NM_000051.4(ATM):c.2901T>C (p.Leu967=)
|
rs778731866
|
|
NM_000051.4(ATM):c.2901T>G (p.Leu967=)
|
rs778731866
|
|
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)
|
rs1555084723
|
|
NM_000051.4(ATM):c.2906T>C (p.Leu969Pro)
|
rs1591602563
|
|
NM_000051.4(ATM):c.2907_2909del (p.Leu970del)
|
rs2135548669
|
|
NM_000051.4(ATM):c.2908C>G (p.Leu970Val)
|
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
NM_000051.4(ATM):c.2909T>A (p.Leu970Gln)
|
rs587782521
|
|
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro)
|
rs587782521
|
|
NM_000051.4(ATM):c.2910G>T (p.Leu970=)
|
|
|
NM_000051.4(ATM):c.2910_2921+10del
|
|
|
NM_000051.4(ATM):c.2912A>T (p.Lys971Ile)
|
rs587781855
|
|
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)
|
rs587781656
|
|
NM_000051.4(ATM):c.2913A>G (p.Lys971=)
|
rs1057522291
|
|
NM_000051.4(ATM):c.2913A>T (p.Lys971Asn)
|
|
|
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser)
|
rs2135548838
|
|
NM_000051.4(ATM):c.2916A>G (p.Pro972=)
|
rs2081553201
|
|
NM_000051.4(ATM):c.2916A>T (p.Pro972=)
|
rs2081553201
|
|
NM_000051.4(ATM):c.2917C>A (p.Leu973Ile)
|
|
|
NM_000051.4(ATM):c.2917C>G (p.Leu973Val)
|
|
|
NM_000051.4(ATM):c.2917C>T (p.Leu973=)
|
rs535646511
|
|
NM_000051.4(ATM):c.2917del (p.Leu973fs)
|
|
|
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro)
|
rs1555084757
|
|
NM_000051.4(ATM):c.291C>A (p.Ile97=)
|
rs746762110
|
|
NM_000051.4(ATM):c.291C>T (p.Ile97=)
|
rs746762110
|
|
NM_000051.4(ATM):c.2920T>C (p.Ser974Pro)
|
|
|
NM_000051.4(ATM):c.2921+10T>G
|
rs1060504278
|
|
NM_000051.4(ATM):c.2921+11A>G
|
rs1565424678
|
|
NM_000051.4(ATM):c.2921+15C>T
|
rs1057521619
|
|
NM_000051.4(ATM):c.2921+16C>T
|
rs558376224
|
|
NM_000051.4(ATM):c.2921+17T>G
|
|
|
NM_000051.4(ATM):c.2921+18T>C
|
rs1565424709
|
|
NM_000051.4(ATM):c.2921+19A>G
|
|
|
NM_000051.4(ATM):c.2921+19_2921+20del
|
rs2135549382
|
|
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.2921+20T>A
|
|
|
NM_000051.4(ATM):c.2921+20T>C
|
rs2081555059
|
|
NM_000051.4(ATM):c.2921+24_2921+28del
|
rs780315379
|
|
NM_000051.4(ATM):c.2921+2T>G
|
rs2135549026
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.2921+38G>C
|
|
|
NM_000051.4(ATM):c.2921+3A>C
|
rs2135549049
|
|
NM_000051.4(ATM):c.2921+3A>T
|
rs2135549049
|
|
NM_000051.4(ATM):c.2921+4A>C
|
rs1565424660
|
|
NM_000051.4(ATM):c.2921+9T>G
|
|
|
NM_000051.4(ATM):c.2921C>A (p.Ser974Tyr)
|
rs538105098
|
|
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)
|
rs538105098
|
|
NM_000051.4(ATM):c.2922-10T>C
|
rs2081563514
|
|
NM_000051.4(ATM):c.2922-10T>G
|
rs2081563514
|
|
NM_000051.4(ATM):c.2922-10_2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-13T>C
|
rs1565424946
|
|
NM_000051.4(ATM):c.2922-14T>C
|
rs761100734
|
|
NM_000051.4(ATM):c.2922-17T>C
|
rs1565424925
|
|
NM_000051.4(ATM):c.2922-17T>G
|
|
|
NM_000051.4(ATM):c.2922-18T>C
|
|
|
NM_000051.4(ATM):c.2922-18T>G
|
|
|
NM_000051.4(ATM):c.2922-1G>A
|
rs1555084931
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2922-21_2922-20delinsG
|
rs1555084900
|
|
NM_000051.4(ATM):c.2922-21_2922-20delinsGG
|
rs1555084898
|
|
NM_000051.4(ATM):c.2922-22_2922-20delinsGG
|
rs1555084880
|
|
NM_000051.4(ATM):c.2922-2A>T
|
rs1591603471
|
|
NM_000051.4(ATM):c.2922-3C>T
|
rs750087017
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
NM_000051.4(ATM):c.2922-50_2938del
|
rs1555084836
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.2922-5C>T
|
rs1452462211
|
|
NM_000051.4(ATM):c.2922-6C>A
|
rs1346698280
|
|
NM_000051.4(ATM):c.2922-7A>G
|
|
|
NM_000051.4(ATM):c.2922-7A>T
|
rs1292971489
|
|
NM_000051.4(ATM):c.2922-7dup
|
rs932219783
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-8dup
|
rs373881770
|
|
NM_000051.4(ATM):c.2922-9T>C
|
rs2135551080
|
|
NM_000051.4(ATM):c.2922-9_2922-8del
|
|
|
NM_000051.4(ATM):c.2922-9_2922-8dup
|
|
|
NM_000051.4(ATM):c.2922C>T (p.Ser974=)
|
rs758045139
|
|
NM_000051.4(ATM):c.2923A>G (p.Asn975Asp)
|
|
|
NM_000051.4(ATM):c.2925T>A (p.Asn975Lys)
|
rs765848319
|
|
NM_000051.4(ATM):c.2925T>C (p.Asn975=)
|
rs765848319
|
|
NM_000051.4(ATM):c.2925T>G (p.Asn975Lys)
|
|
|
NM_000051.4(ATM):c.2926G>A (p.Val976Met)
|
rs1178628574
|
|
NM_000051.4(ATM):c.2926G>T (p.Val976Leu)
|
rs1178628574
|
|
NM_000051.4(ATM):c.2928G>A (p.Val976=)
|
rs1591603577
|
|
NM_000051.4(ATM):c.2928_2931dup (p.Ser978fs)
|
|
|
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)
|
rs2135551484
|
|
NM_000051.4(ATM):c.292A>G (p.Ser98Gly)
|
|
|
NM_000051.4(ATM):c.292A>T (p.Ser98Cys)
|
|
|
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)
|
rs876660628
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
NM_000051.4(ATM):c.2931T>G (p.Cys977Trp)
|
|
|
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)
|
|
|
NM_000051.4(ATM):c.2934T>C (p.Ser978=)
|
|
|
NM_000051.4(ATM):c.2935T>G (p.Leu979Val)
|
|
|
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser)
|
rs1565425094
|
|
NM_000051.4(ATM):c.2937G>A (p.Leu979=)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2937G>C (p.Leu979Phe)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2938T>C (p.Tyr980His)
|
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
NM_000051.4(ATM):c.2939A>T (p.Tyr980Phe)
|
rs1064794211
|
|
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter)
|
rs748119565
|
|
NM_000051.4(ATM):c.2941C>A (p.Arg981Ser)
|
|
|
NM_000051.4(ATM):c.2941C>G (p.Arg981Gly)
|
rs587780619
|
|
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)
|
|
|
NM_000051.4(ATM):c.2943T>A (p.Arg981=)
|
|
|
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2945G>C (p.Arg982Pro)
|
rs749471737
|
|
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu)
|
rs749471737
|
|
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
|
|
|
NM_000051.4(ATM):c.2947G>A (p.Asp983Asn)
|
rs1060501560
|
|
NM_000051.4(ATM):c.2947G>T (p.Asp983Tyr)
|
rs1060501560
|
|
NM_000051.4(ATM):c.2949C>T (p.Asp983=)
|
rs1555085022
|
|
NM_000051.4(ATM):c.294T>C (p.Ser98=)
|
|
|
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)
|
rs2135552016
|
|
NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)
|
|
|
NM_000051.4(ATM):c.2951A>G (p.Gln984Arg)
|
rs1239016428
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
NM_000051.4(ATM):c.2953G>T (p.Asp985Tyr)
|
|
|
NM_000051.4(ATM):c.2953_2954dup (p.Asp985fs)
|
rs2135552095
|
|
NM_000051.4(ATM):c.2954A>C (p.Asp985Ala)
|
|
|
NM_000051.4(ATM):c.2954A>G (p.Asp985Gly)
|
rs864622159
|
|
NM_000051.4(ATM):c.2954A>T (p.Asp985Val)
|
rs864622159
|
|
NM_000051.4(ATM):c.2955T>C (p.Asp985=)
|
rs1555085034
|
|
NM_000051.4(ATM):c.2956G>T (p.Val986Phe)
|
|
|
NM_000051.4(ATM):c.2956del (p.Val986fs)
|
rs2135552199
|
|
NM_000051.4(ATM):c.2957T>C (p.Val986Ala)
|
rs373225328
|
|
NM_000051.4(ATM):c.2959T>G (p.Cys987Gly)
|
rs1305059653
|
|
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr)
|
rs1555085052
|
|
NM_000051.4(ATM):c.2960G>T (p.Cys987Phe)
|
|
|
NM_000051.4(ATM):c.2961T>G (p.Cys987Trp)
|
|
|
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu)
|
rs772327699
|
|
NM_000051.4(ATM):c.2962A>T (p.Lys988Ter)
|
rs772327699
|
|
NM_000051.4(ATM):c.2963A>G (p.Lys988Arg)
|
|
|
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
|
|
|
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala)
|
rs1565425329
|
|
NM_000051.4(ATM):c.2965del (p.Thr989fs)
|
rs786203539
|
|
NM_000051.4(ATM):c.2966C>G (p.Thr989Ser)
|
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.2967T>G (p.Thr989=)
|
rs144145128
|
|
NM_000051.4(ATM):c.2969T>C (p.Ile990Thr)
|
|
|
NM_000051.4(ATM):c.296G>A (p.Ser99Asn)
|
rs2078891183
|
|
NM_000051.4(ATM):c.296del (p.Ser99fs)
|
|
|
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser)
|
rs1227701474
|
|
NM_000051.4(ATM):c.2972del (p.Ile990_Leu991insTer)
|
rs2135552505
|
|
NM_000051.4(ATM):c.2974A>G (p.Asn992Asp)
|
|
|
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser)
|
rs1060501589
|
|
NM_000051.4(ATM):c.2976C>A (p.Asn992Lys)
|
rs1283172338
|
|
NM_000051.4(ATM):c.2976C>G (p.Asn992Lys)
|
rs1283172338
|
|
NM_000051.4(ATM):c.2977C>G (p.His993Asp)
|
rs2081569641
|
|
NM_000051.4(ATM):c.2977C>T (p.His993Tyr)
|
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
NM_000051.4(ATM):c.2978A>T (p.His993Leu)
|
rs878853498
|
|
NM_000051.4(ATM):c.297T>G (p.Ser99Arg)
|
|
|
NM_000051.4(ATM):c.2982C>T (p.Val994=)
|
rs200541844
|
|
NM_000051.4(ATM):c.2983C>A (p.Leu995Ile)
|
|
|
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)
|
rs587779831
|
|
NM_000051.4(ATM):c.2985T>A (p.Leu995=)
|
rs1555085087
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
NM_000051.4(ATM):c.2986C>T (p.His996Tyr)
|
rs2081570384
|
|
NM_000051.4(ATM):c.2987A>C (p.His996Pro)
|
rs876660034
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
NM_000051.4(ATM):c.2988T>C (p.His996=)
|
rs559676197
|
|
NM_000051.4(ATM):c.2988T>G (p.His996Gln)
|
rs559676197
|
|
NM_000051.4(ATM):c.2989G>A (p.Val997Ile)
|
rs1487902875
|
|
NM_000051.4(ATM):c.2989G>C (p.Val997Leu)
|
rs1487902875
|
|
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
|
|
|
NM_000051.4(ATM):c.2990T>C (p.Val997Ala)
|
rs1555085101
|
|
NM_000051.4(ATM):c.2990del (p.Val997fs)
|
rs2135552978
|
|
NM_000051.4(ATM):c.2991A>C (p.Val997=)
|
|
|
NM_000051.4(ATM):c.2991A>G (p.Val997=)
|
rs1203368496
|
|
NM_000051.4(ATM):c.2991A>T (p.Val997=)
|
|
|
NM_000051.4(ATM):c.2993T>G (p.Val998Gly)
|
rs2135553024
|
|
NM_000051.4(ATM):c.2994G>A (p.Val998=)
|
rs1555085118
|
|
NM_000051.4(ATM):c.2994G>T (p.Val998=)
|
|
|
NM_000051.4(ATM):c.2994dup (p.Lys999fs)
|
rs2135553051
|
|
NM_000051.4(ATM):c.2996A>G (p.Lys999Arg)
|
|
|
NM_000051.4(ATM):c.2997A>C (p.Lys999Asn)
|
|
|
NM_000051.4(ATM):c.2998A>T (p.Asn1000Tyr)
|
rs2081571365
|
|
NM_000051.4(ATM):c.2999A>G (p.Asn1000Ser)
|
rs1555085128
|
|
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile)
|
rs1555085128
|
|
NM_000051.4(ATM):c.2999del (p.Asn1000fs)
|
rs1057516250
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
NM_000051.4(ATM):c.299T>C (p.Leu100Ser)
|
|
|
NM_000051.4(ATM):c.299_307del (p.Leu100_Lys102del)
|
rs879254161
|
|
NM_000051.4(ATM):c.29T>C (p.Ile10Thr)
|
rs2135004898
|
|
NM_000051.4(ATM):c.3000C>G (p.Asn1000Lys)
|
rs2135553183
|
|
NM_000051.4(ATM):c.3000C>T (p.Asn1000=)
|
|
|
NM_000051.4(ATM):c.3001C>T (p.Leu1001=)
|
|
|
NM_000051.4(ATM):c.3003A>C (p.Leu1001=)
|
rs765969190
|
|
NM_000051.4(ATM):c.3004G>A (p.Gly1002Ser)
|
|
|
NM_000051.4(ATM):c.3004G>C (p.Gly1002Arg)
|
rs1565425547
|
|
NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)
|
|
|
NM_000051.4(ATM):c.3006T>C (p.Gly1002=)
|
|
|
NM_000051.4(ATM):c.3007C>A (p.Gln1003Lys)
|
|
|
NM_000051.4(ATM):c.3007C>G (p.Gln1003Glu)
|
rs1555085143
|
|
NM_000051.4(ATM):c.3007C>T (p.Gln1003Ter)
|
rs1555085143
|
|
NM_000051.4(ATM):c.3008A>T (p.Gln1003Leu)
|
rs1064815
|
|
NM_000051.4(ATM):c.3009A>G (p.Gln1003=)
|
rs1555085154
|
|
NM_000051.4(ATM):c.300G>A (p.Leu100=)
|
rs878853499
|
|
NM_000051.4(ATM):c.300G>C (p.Leu100Phe)
|
rs878853499
|
|
NM_000051.4(ATM):c.3011G>A (p.Ser1004Asn)
|
rs1060501696
|
|
NM_000051.4(ATM):c.3011G>C (p.Ser1004Thr)
|
rs1060501696
|
|
NM_000051.4(ATM):c.3013A>C (p.Asn1005His)
|
rs745954659
|
|
NM_000051.4(ATM):c.3015T>C (p.Asn1005=)
|
|
|
NM_000051.4(ATM):c.3016A>T (p.Met1006Leu)
|
|
|
NM_000051.4(ATM):c.3018G>A (p.Met1006Ile)
|
|
|
NM_000051.4(ATM):c.3019_3025del (p.Asp1007fs)
|
|
|
NM_000051.4(ATM):c.3020A>G (p.Asp1007Gly)
|
|
|
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu)
|
rs1591604426
|
|
NM_000051.4(ATM):c.3021C>T (p.Asp1007=)
|
rs1591604426
|
|
NM_000051.4(ATM):c.3021_3026del (p.Asp1007_Ser1008del)
|
rs1591604413
|
|
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro)
|
rs2135553747
|
|
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys)
|
rs2135553767
|
|
NM_000051.4(ATM):c.3023_3024del (p.Asp1007_Ser1008insTer)
|
rs2135553733
|
|
NM_000051.4(ATM):c.3023del (p.Ser1008fs)
|
rs2135553794
|
|
NM_000051.4(ATM):c.3024T>C (p.Ser1008=)
|
rs1060504274
|
|
NM_000051.4(ATM):c.3024T>G (p.Ser1008=)
|
rs1060504274
|
|
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)
|
rs2135553856
|
|
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3024_3031del (p.Glu1009fs)
|
|
|
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter)
|
rs1064794039
|
|
NM_000051.4(ATM):c.3026A>G (p.Glu1009Gly)
|
rs1591604490
|
|
NM_000051.4(ATM):c.3027G>A (p.Glu1009=)
|
rs1060504299
|
|
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs)
|
rs1591604513
|
|
NM_000051.4(ATM):c.3029A>G (p.Asn1010Ser)
|
|
|
NM_000051.4(ATM):c.302T>A (p.Val101Asp)
|
|
|
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
|
|
|
NM_000051.4(ATM):c.3031A>C (p.Thr1011Pro)
|
rs959314809
|
|
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala)
|
rs959314809
|
|
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3032C>T (p.Thr1011Ile)
|
rs1387785337
|
|
NM_000051.4(ATM):c.3032del (p.Thr1011fs)
|
rs2135554073
|
|
NM_000051.4(ATM):c.3034A>C (p.Arg1012=)
|
rs752615128
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
NM_000051.4(ATM):c.3035G>A (p.Arg1012Lys)
|
rs1565425752
|
|
NM_000051.4(ATM):c.3035G>T (p.Arg1012Met)
|
|
|
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)
|
|
|
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr)
|
rs2135554187
|
|
NM_000051.4(ATM):c.3038dup (p.Asp1013fs)
|
rs1131691163
|
|
NM_000051.4(ATM):c.3039T>C (p.Asp1013=)
|
rs1591604597
|
|
NM_000051.4(ATM):c.303C>G (p.Val101=)
|
rs1555055291
|
|
NM_000051.4(ATM):c.303C>T (p.Val101=)
|
rs1555055291
|
|
NM_000051.4(ATM):c.3040G>C (p.Ala1014Pro)
|
|
|
NM_000051.4(ATM):c.3041C>A (p.Ala1014Asp)
|
|
|
NM_000051.4(ATM):c.3041C>T (p.Ala1014Val)
|
|
|
NM_000051.4(ATM):c.3042T>C (p.Ala1014=)
|
rs1555085205
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
NM_000051.4(ATM):c.3044A>C (p.Gln1015Pro)
|
rs587778070
|
|
NM_000051.4(ATM):c.3044A>G (p.Gln1015Arg)
|
rs587778070
|
|
NM_000051.4(ATM):c.3044_3045del (p.Gln1015fs)
|
rs1555085217
|
|
NM_000051.4(ATM):c.3045A>C (p.Gln1015His)
|
rs1064796404
|
|
NM_000051.4(ATM):c.3045A>G (p.Gln1015=)
|
rs1064796404
|
|
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)
|
rs2081575204
|
|
NM_000051.4(ATM):c.3047G>A (p.Gly1016Glu)
|
rs1565425832
|
|
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val)
|
rs1565425832
|
|
NM_000051.4(ATM):c.3048A>G (p.Gly1016=)
|
rs786203820
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3050A>G (p.Gln1017Arg)
|
|
|
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
|
|
|
NM_000051.4(ATM):c.3054del (p.Thr1020fs)
|
rs2135554539
|
|
NM_000051.4(ATM):c.3055C>A (p.Leu1019Ile)
|
rs863224560
|
|
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val)
|
rs863224560
|
|
NM_000051.4(ATM):c.3058dup (p.Thr1020fs)
|
|
|
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.305A>G (p.Lys102Arg)
|
|
|
NM_000051.4(ATM):c.305A>T (p.Lys102Ile)
|
rs1555055293
|
|
NM_000051.4(ATM):c.3060A>G (p.Thr1020=)
|
rs1591604737
|
|
NM_000051.4(ATM):c.3061G>C (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
|
|
|
NM_000051.4(ATM):c.3062T>G (p.Val1021Gly)
|
rs786202399
|
|
NM_000051.4(ATM):c.3063A>G (p.Val1021=)
|
rs1591604752
|
|
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val)
|
rs786202470
|
|
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)
|
rs786202470
|
|
NM_000051.4(ATM):c.3065T>C (p.Ile1022Thr)
|
|
|
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser)
|
rs1591604769
|
|
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg)
|
rs730882129
|
|
NM_000051.4(ATM):c.3068del (p.Gly1023fs)
|
rs1057516590
|
|
NM_000051.4(ATM):c.3069A>G (p.Gly1023=)
|
rs778984289
|
|
NM_000051.4(ATM):c.306A>G (p.Lys102=)
|
rs1060501626
|
|
NM_000051.4(ATM):c.3070G>A (p.Ala1024Thr)
|
rs1397754737
|
|
NM_000051.4(ATM):c.3070G>C (p.Ala1024Pro)
|
rs1397754737
|
|
NM_000051.4(ATM):c.3070G>T (p.Ala1024Ser)
|
|
|
NM_000051.4(ATM):c.3071C>G (p.Ala1024Gly)
|
rs746133264
|
|
NM_000051.4(ATM):c.3072A>G (p.Ala1024=)
|
rs772274328
|
|
NM_000051.4(ATM):c.3073T>C (p.Phe1025Leu)
|
rs2135554935
|
|
NM_000051.4(ATM):c.3074T>G (p.Phe1025Cys)
|
rs1555085266
|
|
NM_000051.4(ATM):c.3075T>G (p.Phe1025Leu)
|
rs1591604883
|
|
NM_000051.4(ATM):c.3075_3077+23del
|
|
|
NM_000051.4(ATM):c.3076T>C (p.Trp1026Arg)
|
rs2135555027
|
|
NM_000051.4(ATM):c.3076del (p.Trp1026fs)
|
rs2135554957
|
|
NM_000051.4(ATM):c.3077+11T>G
|
|
|
NM_000051.4(ATM):c.3077+12C>A
|
|
|
NM_000051.4(ATM):c.3077+12C>G
|
rs2081578131
|
|
NM_000051.4(ATM):c.3077+13T>A
|
rs1057524204
|
|
NM_000051.4(ATM):c.3077+13dup
|
rs1555085272
|
|
NM_000051.4(ATM):c.3077+14A>G
|
rs977758069
|
|
NM_000051.4(ATM):c.3077+14A>T
|
|
|
NM_000051.4(ATM):c.3077+15T>C
|
rs1555085277
|
|
NM_000051.4(ATM):c.3077+18del
|
rs1555085280
|
|
NM_000051.4(ATM):c.3077+19G>T
|
rs1418513952
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
NM_000051.4(ATM):c.3077+1G>C
|
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3077+21_3077+23del
|
rs1243820894
|
|
NM_000051.4(ATM):c.3077+3A>G
|
|
|
NM_000051.4(ATM):c.3077+4G>C
|
rs201222237
|
|
NM_000051.4(ATM):c.3077+4G>T
|
rs201222237
|
|
NM_000051.4(ATM):c.3077+6T>A
|
rs1565426002
|
|
NM_000051.4(ATM):c.3077+6T>C
|
|
|
NM_000051.4(ATM):c.3077+7A>C
|
rs2081577708
|
|
NM_000051.4(ATM):c.3077+7A>G
|
rs2081577708
|
|
NM_000051.4(ATM):c.3077+8C>A
|
rs752601608
|
|
NM_000051.4(ATM):c.3077+8C>T
|
rs752601608
|
|
NM_000051.4(ATM):c.3077+9A>G
|
|
|
NM_000051.4(ATM):c.3077+9A>T
|
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
NM_000051.4(ATM):c.3077G>C (p.Trp1026Ser)
|
rs587782103
|
|
NM_000051.4(ATM):c.3078-10T>G
|
rs2135564722
|
|
NM_000051.4(ATM):c.3078-11C>A
|
rs756972430
|
|
NM_000051.4(ATM):c.3078-12A>T
|
rs1555085749
|
|
NM_000051.4(ATM):c.3078-12_3078-10del
|
|
|
NM_000051.4(ATM):c.3078-12dup
|
rs2081636986
|
|
NM_000051.4(ATM):c.3078-14T>C
|
|
|
NM_000051.4(ATM):c.3078-16A>C
|
|
|
NM_000051.4(ATM):c.3078-19A>C
|
|
|
NM_000051.4(ATM):c.3078-20G>A
|
|
|
NM_000051.4(ATM):c.3078-2A>C
|
rs2135564916
|
|
NM_000051.4(ATM):c.3078-2A>G
|
|
|
NM_000051.4(ATM):c.3078-4T>A
|
|
|
NM_000051.4(ATM):c.3078-4T>G
|
rs1591608166
|
|
NM_000051.4(ATM):c.3078-5T>C
|
rs1565427457
|
|
NM_000051.4(ATM):c.3078-5T>G
|
rs1565427457
|
|
NM_000051.4(ATM):c.3078-7A>G
|
|
|
NM_000051.4(ATM):c.3078-7A>T
|
|
|
NM_000051.4(ATM):c.3078-8G>C
|
|
|
NM_000051.4(ATM):c.3078-9T>G
|
rs2081637337
|
|
NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter)
|
rs876660869
|
|
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.307T>A (p.Tyr103Asn)
|
|
|
NM_000051.4(ATM):c.3080A>C (p.His1027Pro)
|
rs786204217
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
NM_000051.4(ATM):c.3081T>A (p.His1027Gln)
|
rs864622587
|
|
NM_000051.4(ATM):c.3081T>C (p.His1027=)
|
rs864622587
|
|
NM_000051.4(ATM):c.3082C>G (p.Leu1028Val)
|
rs1263930458
|
|
NM_000051.4(ATM):c.3083T>A (p.Leu1028Gln)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3083T>G (p.Leu1028Arg)
|
rs1555085776
|
|
NM_000051.4(ATM):c.3084A>C (p.Leu1028=)
|
rs1565427561
|
|
NM_000051.4(ATM):c.3084A>G (p.Leu1028=)
|
rs1565427561
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3086C>T (p.Thr1029Ile)
|
|
|
NM_000051.4(ATM):c.3086_3090del (p.Thr1029fs)
|
rs2135565205
|
|
NM_000051.4(ATM):c.3087A>C (p.Thr1029=)
|
rs1555085787
|
|
NM_000051.4(ATM):c.3087A>G (p.Thr1029=)
|
rs1555085787
|
|
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu)
|
rs863224561
|
|
NM_000051.4(ATM):c.3089A>G (p.Lys1030Arg)
|
rs2081639453
|
|
NM_000051.4(ATM):c.308A>C (p.Tyr103Ser)
|
|
|
NM_000051.4(ATM):c.3090G>A (p.Lys1030=)
|
rs1591608292
|
|
NM_000051.4(ATM):c.3091del (p.Glu1031fs)
|
rs2135565314
|
|
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly)
|
rs758708495
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
NM_000051.4(ATM):c.3093G>A (p.Glu1031=)
|
rs1555085799
|
|
NM_000051.4(ATM):c.3093G>T (p.Glu1031Asp)
|
|
|
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys)
|
rs2081639925
|
|
NM_000051.4(ATM):c.3096G>A (p.Arg1032=)
|
rs1555085805
|
|
NM_000051.4(ATM):c.3096G>T (p.Arg1032Ser)
|
rs1555085805
|
|
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter)
|
rs1591608334
|
|
NM_000051.4(ATM):c.30C>A (p.Ile10=)
|
rs1591445856
|
|
NM_000051.4(ATM):c.30C>T (p.Ile10=)
|
rs1591445856
|
|
NM_000051.4(ATM):c.3100T>A (p.Tyr1034Asn)
|
rs975639638
|
|
NM_000051.4(ATM):c.3100T>C (p.Tyr1034His)
|
rs975639638
|
|
NM_000051.4(ATM):c.3100_3114dup (p.Tyr1034_Val1038dup)
|
rs2135565534
|
|
NM_000051.4(ATM):c.3101A>G (p.Tyr1034Cys)
|
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
NM_000051.4(ATM):c.3104T>C (p.Ile1035Thr)
|
rs2135565634
|
|
NM_000051.4(ATM):c.3105A>G (p.Ile1035Met)
|
rs1565427678
|
|
NM_000051.4(ATM):c.3105_3106del (p.Phe1036fs)
|
rs2081640268
|
|
NM_000051.4(ATM):c.3105_3106dup (p.Phe1036fs)
|
rs2081640268
|
|
NM_000051.4(ATM):c.3107T>C (p.Phe1036Ser)
|
|
|
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)
|
|
|
NM_000051.4(ATM):c.3108C>G (p.Phe1036Leu)
|
|
|
NM_000051.4(ATM):c.3108_3119delinsTAA (p.Ser1037_Met1040delinsLys)
|
|
|
NM_000051.4(ATM):c.3109T>C (p.Ser1037Pro)
|
rs2135565790
|
|
NM_000051.4(ATM):c.310T>C (p.Phe104Leu)
|
rs1555055306
|
|
NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)
|
|
|
NM_000051.4(ATM):c.3110C>T (p.Ser1037Phe)
|
rs1555085821
|
|
NM_000051.4(ATM):c.3111T>C (p.Ser1037=)
|
rs1591608393
|
|
NM_000051.4(ATM):c.3112G>A (p.Val1038Ile)
|
rs876659877
|
|
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu)
|
rs876659877
|
|
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs)
|
rs2135565843
|
|
NM_000051.4(ATM):c.3113T>A (p.Val1038Glu)
|
rs1555085827
|
|
NM_000051.4(ATM):c.3113T>G (p.Val1038Gly)
|
|
|
NM_000051.4(ATM):c.3115A>C (p.Arg1039=)
|
rs1060504309
|
|
NM_000051.4(ATM):c.3116G>A (p.Arg1039Lys)
|
|
|
NM_000051.4(ATM):c.3116G>T (p.Arg1039Ile)
|
|
|
NM_000051.4(ATM):c.3117A>G (p.Arg1039=)
|
rs55784207
|
|
NM_000051.4(ATM):c.311del (p.Phe104fs)
|
rs1555055309
|
|
NM_000051.4(ATM):c.3120G>C (p.Met1040Ile)
|
rs781519408
|
|
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr)
|
rs748752687
|
|
NM_000051.4(ATM):c.3121G>T (p.Ala1041Ser)
|
rs748752687
|
|
NM_000051.4(ATM):c.3124C>G (p.Leu1042Val)
|
rs1177614796
|
|
NM_000051.4(ATM):c.3124del (p.Ala1041_Leu1042insTer)
|
|
|
NM_000051.4(ATM):c.3125T>C (p.Leu1042Pro)
|
|
|
NM_000051.4(ATM):c.3125del (p.Leu1042fs)
|
|
|
NM_000051.4(ATM):c.3126A>T (p.Leu1042=)
|
|
|
NM_000051.4(ATM):c.3126_3137del (p.Val1043_Leu1046del)
|
|
|
NM_000051.4(ATM):c.3127G>A (p.Val1043Ile)
|
|
|
NM_000051.4(ATM):c.3128T>G (p.Val1043Gly)
|
rs730881356
|
|
NM_000051.4(ATM):c.3129A>G (p.Val1043=)
|
|
|
NM_000051.4(ATM):c.3129A>T (p.Val1043=)
|
|
|
NM_000051.4(ATM):c.312C>T (p.Phe104=)
|
rs1060504310
|
|
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser)
|
rs1565427876
|
|
NM_000051.4(ATM):c.3131del (p.Asn1044fs)
|
|
|
NM_000051.4(ATM):c.3133T>A (p.Cys1045Ser)
|
rs1565427891
|
|
NM_000051.4(ATM):c.3133T>C (p.Cys1045Arg)
|
|
|
NM_000051.4(ATM):c.3133T>G (p.Cys1045Gly)
|
rs1565427891
|
|
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)
|
rs773577455
|
|
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe)
|
rs1591608576
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3137T>G (p.Leu1046Arg)
|
|
|
NM_000051.4(ATM):c.3138T>A (p.Leu1046=)
|
|
|
NM_000051.4(ATM):c.3138T>C (p.Leu1046=)
|
rs3092858
|
|
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu)
|
rs587778071
|
|
NM_000051.4(ATM):c.3140A>T (p.Lys1047Ile)
|
|
|
NM_000051.4(ATM):c.3141A>G (p.Lys1047=)
|
|
|
NM_000051.4(ATM):c.3142del (p.Thr1048fs)
|
rs2135566568
|
|
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile)
|
rs1565427949
|
|
NM_000051.4(ATM):c.3145T>C (p.Leu1049=)
|
rs1591608635
|
|
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs)
|
rs1565427961
|
|
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser)
|
rs1373504805
|
|
NM_000051.4(ATM):c.3146dup (p.Leu1049fs)
|
rs1565427961
|
|
NM_000051.4(ATM):c.3147G>A (p.Leu1049=)
|
rs1060501686
|
|
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
|
|
|
NM_000051.4(ATM):c.3149T>C (p.Leu1050Pro)
|
rs1555085890
|
|
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg)
|
rs1555085890
|
|
NM_000051.4(ATM):c.314T>A (p.Ile105Asn)
|
|
|
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala)
|
rs876659217
|
|
NM_000051.4(ATM):c.3152A>G (p.Glu1051Gly)
|
rs876659217
|
|
NM_000051.4(ATM):c.3153+10dup
|
rs1565428079
|
|
NM_000051.4(ATM):c.3153+11G>C
|
|
|
NM_000051.4(ATM):c.3153+12C>T
|
rs2135567275
|
|
NM_000051.4(ATM):c.3153+13A>G
|
|
|
NM_000051.4(ATM):c.3153+15T>G
|
|
|
NM_000051.4(ATM):c.3153+15_3153+16delinsA
|
rs1555085918
|
|
NM_000051.4(ATM):c.3153+16T>G
|
|
|
NM_000051.4(ATM):c.3153+18T>G
|
rs1555085921
|
|
NM_000051.4(ATM):c.3153+19T>G
|
rs1565428143
|
|
NM_000051.4(ATM):c.3153+1G>A
|
rs2081646501
|
|
NM_000051.4(ATM):c.3153+1G>T
|
rs2081646501
|
|
NM_000051.4(ATM):c.3153+20T>A
|
rs200786429
|
|
NM_000051.4(ATM):c.3153+20del
|
rs760492979
|
|
NM_000051.4(ATM):c.3153+20dup
|
rs760492979
|
|
NM_000051.4(ATM):c.3153+2T>C
|
rs2135566959
|
|
NM_000051.4(ATM):c.3153+3G>A
|
rs1565428067
|
|
NM_000051.4(ATM):c.3153+3G>T
|
rs1565428067
|
|
NM_000051.4(ATM):c.3153+4A>G
|
rs1060501620
|
|
NM_000051.4(ATM):c.3153+4A>T
|
rs1060501620
|
|
NM_000051.4(ATM):c.3153+5G>A
|
rs1591608756
|
|
NM_000051.4(ATM):c.3153+5G>C
|
rs1591608756
|
|
NM_000051.4(ATM):c.3153+5G>T
|
|
|
NM_000051.4(ATM):c.3153+6T>C
|
|
|
NM_000051.4(ATM):c.3153+7T>C
|
rs2135567095
|
|
NM_000051.4(ATM):c.3153+7_3153+8insA
|
rs878853500
|
|
NM_000051.4(ATM):c.3153+9T>C
|
rs770464168
|
|
NM_000051.4(ATM):c.3154-10T>C
|
rs2135569357
|
|
NM_000051.4(ATM):c.3154-12C>A
|
|
|
NM_000051.4(ATM):c.3154-12C>T
|
|
|
NM_000051.4(ATM):c.3154-16A>C
|
|
|
NM_000051.4(ATM):c.3154-18del
|
|
|
NM_000051.4(ATM):c.3154-19C>T
|
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
NM_000051.4(ATM):c.3154-1_3154delinsTT
|
rs2081657007
|
|
NM_000051.4(ATM):c.3154-20C>T
|
rs1057522141
|
|
NM_000051.4(ATM):c.3154-2A>T
|
rs730881357
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-4G>T
|
rs199543313
|
|
NM_000051.4(ATM):c.3154-5_3154-4insAA
|
rs1565428327
|
|
NM_000051.4(ATM):c.3154-7C>T
|
rs756615573
|
|
NM_000051.4(ATM):c.3154-9T>C
|
rs2135569385
|
|
NM_000051.4(ATM):c.3154G>A (p.Ala1052Thr)
|
rs1064793036
|
|
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro)
|
rs1064793036
|
|
NM_000051.4(ATM):c.3154G>T (p.Ala1052Ser)
|
|
|
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly)
|
rs876660350
|
|
NM_000051.4(ATM):c.3156T>C (p.Ala1052=)
|
rs1591609406
|
|
NM_000051.4(ATM):c.3157G>A (p.Asp1053Asn)
|
rs876660172
|
|
NM_000051.4(ATM):c.3157G>C (p.Asp1053His)
|
rs876660172
|
|
NM_000051.4(ATM):c.3158A>G (p.Asp1053Gly)
|
|
|
NM_000051.4(ATM):c.3158A>T (p.Asp1053Val)
|
rs2081657910
|
|
NM_000051.4(ATM):c.315C>T (p.Ile105=)
|
rs1057522344
|
|
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr)
|
rs775095314
|
|
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser)
|
|
|
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)
|
rs1800057
|
|
NM_000051.4(ATM):c.3162T>A (p.Pro1054=)
|
|
|
NM_000051.4(ATM):c.3162T>G (p.Pro1054=)
|
rs2081658300
|
|
NM_000051.4(ATM):c.3164A>G (p.Tyr1055Cys)
|
rs2081658652
|
|
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)
|
rs1565428419
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
|
|
NM_000051.4(ATM):c.3167C>T (p.Ser1056Leu)
|
|
|
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
|
|
|
NM_000051.4(ATM):c.3169A>C (p.Lys1057Gln)
|
|
|
NM_000051.4(ATM):c.3169A>T (p.Lys1057Ter)
|
|
|
NM_000051.4(ATM):c.3170A>C (p.Lys1057Thr)
|
|
|
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
|
|
|
NM_000051.4(ATM):c.3171del (p.Lys1057fs)
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
NM_000051.4(ATM):c.3172T>A (p.Trp1058Arg)
|
rs1555085992
|
|
NM_000051.4(ATM):c.3172T>G (p.Trp1058Gly)
|
|
|
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
|
|
|
NM_000051.4(ATM):c.3173G>T (p.Trp1058Leu)
|
|
|
NM_000051.4(ATM):c.3174G>A (p.Trp1058Ter)
|
rs1064796080
|
|
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.3177C>G (p.Ala1059=)
|
rs1044910300
|
|
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val)
|
rs2081660483
|
|
NM_000051.4(ATM):c.317A>G (p.Lys106Arg)
|
rs878853501
|
|
NM_000051.4(ATM):c.3181C>G (p.Leu1061Val)
|
rs1565428509
|
|
NM_000051.4(ATM):c.3181C>T (p.Leu1061Phe)
|
rs1565428509
|
|
NM_000051.4(ATM):c.3181del (p.Asn1062fs)
|
rs2081660777
|
|
NM_000051.4(ATM):c.3185A>C (p.Asn1062Thr)
|
|
|
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)
|
|
|
NM_000051.4(ATM):c.3186T>G (p.Asn1062Lys)
|
|
|
NM_000051.4(ATM):c.3187G>A (p.Val1063Ile)
|
rs2135570586
|
|
NM_000051.4(ATM):c.3188T>C (p.Val1063Ala)
|
rs2081661362
|
|
NM_000051.4(ATM):c.3188_3192del (p.Val1063fs)
|
rs2135570486
|
|
NM_000051.4(ATM):c.3188dup (p.Met1064fs)
|
rs2135570632
|
|
NM_000051.4(ATM):c.318A>C (p.Lys106Asn)
|
rs1555055319
|
|
NM_000051.4(ATM):c.318del (p.Lys106fs)
|
rs1591452378
|
|
NM_000051.4(ATM):c.318dup (p.Cys107fs)
|
rs1591452378
|
|
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile)
|
rs1480804197
|
|
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val)
|
rs762810180
|
|
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)
|
rs1555086041
|
|
NM_000051.4(ATM):c.3197A>C (p.Lys1066Thr)
|
rs926564671
|
|
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg)
|
rs926564671
|
|
NM_000051.4(ATM):c.3198A>C (p.Lys1066Asn)
|
rs1591609637
|
|
NM_000051.4(ATM):c.3198A>G (p.Lys1066=)
|
rs1591609637
|
|
NM_000051.4(ATM):c.3198A>T (p.Lys1066Asn)
|
rs1591609637
|
|
NM_000051.4(ATM):c.3198del (p.Asp1067fs)
|
|
|
NM_000051.4(ATM):c.3199G>C (p.Asp1067His)
|
|
|
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr)
|
rs766342338
|
|
NM_000051.4(ATM):c.319T>C (p.Cys107Arg)
|
rs864622508
|
|
NM_000051.4(ATM):c.31T>C (p.Cys11Arg)
|
|
|
NM_000051.4(ATM):c.3200A>G (p.Asp1067Gly)
|
rs1591609662
|
|
NM_000051.4(ATM):c.3200A>T (p.Asp1067Val)
|
|
|
NM_000051.4(ATM):c.3201C>A (p.Asp1067Glu)
|
rs1188674152
|
|
NM_000051.4(ATM):c.3201C>T (p.Asp1067=)
|
rs1188674152
|
|
NM_000051.4(ATM):c.3202T>A (p.Phe1068Ile)
|
rs1255200743
|
|
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu)
|
rs1255200743
|
|
NM_000051.4(ATM):c.3202T>G (p.Phe1068Val)
|
|
|
NM_000051.4(ATM):c.3203_3204del (p.Phe1068fs)
|
rs2135571055
|
|
NM_000051.4(ATM):c.3204T>C (p.Phe1068=)
|
rs1555086059
|
|
NM_000051.4(ATM):c.3205C>A (p.Pro1069Thr)
|
rs751714261
|
|
NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)
|
|
|
NM_000051.4(ATM):c.3206C>T (p.Pro1069Leu)
|
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3207T>C (p.Pro1069=)
|
rs878853502
|
|
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile)
|
rs587780620
|
|
NM_000051.4(ATM):c.3208G>T (p.Val1070Leu)
|
rs587780620
|
|
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu)
|
rs2135571268
|
|
NM_000051.4(ATM):c.320G>T (p.Cys107Phe)
|
rs142358238
|
|
NM_000051.4(ATM):c.320dup (p.Cys107fs)
|
rs2078893430
|
|
NM_000051.4(ATM):c.3210A>G (p.Val1070=)
|
rs1443665212
|
|
NM_000051.4(ATM):c.3210A>T (p.Val1070=)
|
rs1443665212
|
|
NM_000051.4(ATM):c.3213T>C (p.Asn1071=)
|
rs786203221
|
|
NM_000051.4(ATM):c.3213del (p.Asn1071fs)
|
rs2135571395
|
|
NM_000051.4(ATM):c.3214del (p.Glu1072fs)
|
|
|
NM_000051.4(ATM):c.3216del (p.Val1073fs)
|
rs2135571457
|
|
NM_000051.4(ATM):c.3217G>A (p.Val1073Ile)
|
rs2135571488
|
|
NM_000051.4(ATM):c.3218_3227del (p.Val1073fs)
|
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
NM_000051.4(ATM):c.321T>A (p.Cys107Ter)
|
|
|
NM_000051.4(ATM):c.3220T>C (p.Phe1074Leu)
|
|
|
NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile)
|
rs756568555
|
|
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
|
|
|
NM_000051.4(ATM):c.3225A>G (p.Thr1075=)
|
rs1555086107
|
|
NM_000051.4(ATM):c.3226C>G (p.Gln1076Glu)
|
rs2135571727
|
|
NM_000051.4(ATM):c.3226C>T (p.Gln1076Ter)
|
|
|
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)
|
rs1057522201
|
|
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu)
|
rs1555086111
|
|
NM_000051.4(ATM):c.3229T>G (p.Phe1077Val)
|
rs1555086111
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
NM_000051.4(ATM):c.3232C>G (p.Leu1078Val)
|
|
|
NM_000051.4(ATM):c.3235G>A (p.Ala1079Thr)
|
rs1565428827
|
|
NM_000051.4(ATM):c.3235_3236delinsTT (p.Ala1079Phe)
|
rs1555086120
|
|
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly)
|
rs778233602
|
|
NM_000051.4(ATM):c.3236C>T (p.Ala1079Val)
|
|
|
NM_000051.4(ATM):c.3237T>G (p.Ala1079=)
|
|
|
NM_000051.4(ATM):c.3238G>A (p.Asp1080Asn)
|
|
|
NM_000051.4(ATM):c.3238_3240del (p.Asp1080del)
|
rs2135572079
|
|
NM_000051.4(ATM):c.3239A>C (p.Asp1080Ala)
|
|
|
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly)
|
rs757617016
|
|
NM_000051.4(ATM):c.3239A>T (p.Asp1080Val)
|
rs757617016
|
|
NM_000051.4(ATM):c.323C>G (p.Ala108Gly)
|
rs766951228
|
|
NM_000051.4(ATM):c.323C>T (p.Ala108Val)
|
|
|
NM_000051.4(ATM):c.3240C>T (p.Asp1080=)
|
|
|
NM_000051.4(ATM):c.3241A>C (p.Asn1081His)
|
rs2081666605
|
|
NM_000051.4(ATM):c.3241A>G (p.Asn1081Asp)
|
rs2081666605
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
NM_000051.4(ATM):c.3243T>C (p.Asn1081=)
|
rs2135572258
|
|
NM_000051.4(ATM):c.3243TCA[1] (p.His1083del)
|
rs1591609996
|
|
NM_000051.4(ATM):c.3244C>G (p.His1082Asp)
|
rs1302626569
|
|
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs)
|
rs761486324
|
|
NM_000051.4(ATM):c.3245A>C (p.His1082Pro)
|
|
|
NM_000051.4(ATM):c.3245A>G (p.His1082Arg)
|
rs1009749513
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3247_3260del (p.His1083fs)
|
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3248A>T (p.His1083Leu)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3249C>G (p.His1083Gln)
|
rs1246816005
|
|
NM_000051.4(ATM):c.324A>G (p.Ala108=)
|
rs2135038430
|
|
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)
|
rs1386063673
|
|
NM_000051.4(ATM):c.3251A>G (p.Gln1084Arg)
|
rs2081668405
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile)
|
rs1555086177
|
|
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)
|
rs1284116426
|
|
NM_000051.4(ATM):c.3256C>G (p.Arg1086Gly)
|
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
NM_000051.4(ATM):c.3257G>T (p.Arg1086Leu)
|
rs769857066
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
NM_000051.4(ATM):c.3259A>C (p.Met1087Leu)
|
|
|
NM_000051.4(ATM):c.3259A>G (p.Met1087Val)
|
|
|
NM_000051.4(ATM):c.325A>G (p.Asn109Asp)
|
rs2135038523
|
|
NM_000051.4(ATM):c.325A>T (p.Asn109Tyr)
|
rs2135038523
|
|
NM_000051.4(ATM):c.325_326del (p.Asn109fs)
|
rs2135038488
|
|
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr)
|
rs1460583900
|
|
NM_000051.4(ATM):c.3261del (p.Met1087fs)
|
rs1565429054
|
|
NM_000051.4(ATM):c.3262T>C (p.Leu1088=)
|
rs2081670323
|
|
NM_000051.4(ATM):c.3263del (p.Leu1088fs)
|
|
|
NM_000051.4(ATM):c.3265G>A (p.Ala1089Thr)
|
rs730881358
|
|
NM_000051.4(ATM):c.3265G>C (p.Ala1089Pro)
|
rs730881358
|
|
NM_000051.4(ATM):c.3266C>T (p.Ala1089Val)
|
rs2135572925
|
|
NM_000051.4(ATM):c.3267T>C (p.Ala1089=)
|
|
|
NM_000051.4(ATM):c.3269C>T (p.Ala1090Val)
|
rs1591610246
|
|
NM_000051.4(ATM):c.326A>G (p.Asn109Ser)
|
rs2078893700
|
|
NM_000051.4(ATM):c.326dup (p.Asn109fs)
|
rs2135038488
|
|
NM_000051.4(ATM):c.3270A>G (p.Ala1090=)
|
rs997005308
|
|
NM_000051.4(ATM):c.3271G>A (p.Glu1091Lys)
|
rs2135573046
|
|
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs)
|
rs1565429102
|
|
NM_000051.4(ATM):c.3273G>A (p.Glu1091=)
|
rs762860946
|
|
NM_000051.4(ATM):c.3273_3284+42dup
|
rs2081670756
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu)
|
rs774197372
|
|
NM_000051.4(ATM):c.3276A>C (p.Ser1092=)
|
|
|
NM_000051.4(ATM):c.3276A>G (p.Ser1092=)
|
rs2135573179
|
|
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val)
|
rs876659667
|
|
NM_000051.4(ATM):c.3278T>G (p.Ile1093Ser)
|
rs2135573226
|
|
NM_000051.4(ATM):c.3279C>T (p.Ile1093=)
|
|
|
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)
|
rs1131691155
|
|
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)
|
rs879254281
|
|
NM_000051.4(ATM):c.327C>A (p.Asn109Lys)
|
|
|
NM_000051.4(ATM):c.3280A>C (p.Asn1094His)
|
rs1591610333
|
|
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp)
|
rs1591610333
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
NM_000051.4(ATM):c.3284+10C>G
|
rs2081674914
|
|
NM_000051.4(ATM):c.3284+11A>C
|
rs1565429231
|
|
NM_000051.4(ATM):c.3284+12A>G
|
|
|
NM_000051.4(ATM):c.3284+19A>G
|
rs2135573831
|
|
NM_000051.4(ATM):c.3284+19A>T
|
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>T
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1del
|
|
|
NM_000051.4(ATM):c.3284+20T>C
|
rs1448789912
|
|
NM_000051.4(ATM):c.3284+3A>G
|
rs1591610398
|
|
NM_000051.4(ATM):c.3284+4A>G
|
rs1591610423
|
|
NM_000051.4(ATM):c.3284+4del
|
rs761592860
|
|
NM_000051.4(ATM):c.3284+5T>C
|
|
|
NM_000051.4(ATM):c.3284+6G>A
|
|
|
NM_000051.4(ATM):c.3284+7G>A
|
rs371629629
|
|
NM_000051.4(ATM):c.3284+8G>A
|
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
NM_000051.4(ATM):c.3284+9T>C
|
rs1555086278
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
NM_000051.4(ATM):c.3285-12G>A
|
rs1057521452
|
|
NM_000051.4(ATM):c.3285-12_3285-10delinsAC
|
rs2082112773
|
|
NM_000051.4(ATM):c.3285-13_3285-9del
|
rs2082112477
|
|
NM_000051.4(ATM):c.3285-13del
|
rs1245305174
|
|
NM_000051.4(ATM):c.3285-14T>C
|
rs2082112216
|
|
NM_000051.4(ATM):c.3285-16G>C
|
|
|
NM_000051.4(ATM):c.3285-16G>T
|
rs1057524332
|
|
NM_000051.4(ATM):c.3285-2308_3994-1478dup
|
|
|
NM_000051.4(ATM):c.3285-2698G>A
|
|
|
NM_000051.4(ATM):c.3285-27_3285-16del
|
|
|
NM_000051.4(ATM):c.3285-2896_3285-2893del
|
|
|
NM_000051.4(ATM):c.3285-2A>G
|
rs1591631876
|
|
NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA
|
rs2135642194
|
|
NM_000051.4(ATM):c.3285-2_3296dup
|
rs1591631866
|
|
NM_000051.4(ATM):c.3285-31TTTG[3]
|
rs750490644
|
|
NM_000051.4(ATM):c.3285-31TTTG[5]
|
rs750490644
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
NM_000051.4(ATM):c.3285-5T>G
|
|
|
NM_000051.4(ATM):c.3285-7T>C
|
rs913535107
|
|
NM_000051.4(ATM):c.3285-8G>A
|
rs1469259085
|
|
NM_000051.4(ATM):c.3285-8G>C
|
rs1469259085
|
|
NM_000051.4(ATM):c.3285-9_3285-5delinsGTTC
|
rs1064796108
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3285A>G (p.Arg1095=)
|
|
|
NM_000051.4(ATM):c.3285A>T (p.Arg1095Ser)
|
rs2082114209
|
|
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser)
|
rs2082114508
|
|
NM_000051.4(ATM):c.3287T>G (p.Leu1096Trp)
|
|
|
NM_000051.4(ATM):c.3288G>A (p.Leu1096=)
|
rs2135642354
|
|
NM_000051.4(ATM):c.3288G>T (p.Leu1096Phe)
|
|
|
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
|
|
|
NM_000051.4(ATM):c.328A>G (p.Arg110Gly)
|
rs2078893781
|
|
NM_000051.4(ATM):c.3290T>C (p.Phe1097Ser)
|
rs1591631881
|
|
NM_000051.4(ATM):c.3291C>T (p.Phe1097=)
|
|
|
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu)
|
rs773964990
|
|
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)
|
rs773964990
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
NM_000051.4(ATM):c.3296A>G (p.Asp1099Gly)
|
rs587778072
|
|
NM_000051.4(ATM):c.3296A>T (p.Asp1099Val)
|
rs587778072
|
|
NM_000051.4(ATM):c.3296_3318del (p.Asp1099fs)
|
|
|
NM_000051.4(ATM):c.3297C>G (p.Asp1099Glu)
|
|
|
NM_000051.4(ATM):c.3297del (p.Asp1099fs)
|
rs2082115419
|
|
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro)
|
rs2082115524
|
|
NM_000051.4(ATM):c.3298A>G (p.Thr1100Ala)
|
rs2082115524
|
|
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
|
|
|
NM_000051.4(ATM):c.3300G>T (p.Thr1100=)
|
rs587780621
|
|
NM_000051.4(ATM):c.3301A>G (p.Lys1101Glu)
|
|
|
NM_000051.4(ATM):c.3302A>C (p.Lys1101Thr)
|
|
|
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg)
|
rs147557621
|
|
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.3307G>C (p.Asp1103His)
|
rs1555090114
|
|
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala)
|
rs1555090118
|
|
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly)
|
rs1555090118
|
|
NM_000051.4(ATM):c.3308A>T (p.Asp1103Val)
|
rs1555090118
|
|
NM_000051.4(ATM):c.3309T>C (p.Asp1103=)
|
|
|
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu)
|
rs764102178
|
|
NM_000051.4(ATM):c.330A>C (p.Arg110Ser)
|
rs1555055350
|
|
NM_000051.4(ATM):c.331+10G>C
|
rs755557468
|
|
NM_000051.4(ATM):c.331+11T>C
|
|
|
NM_000051.4(ATM):c.331+12T>C
|
rs2135039169
|
|
NM_000051.4(ATM):c.331+13A>G
|
|
|
NM_000051.4(ATM):c.331+17A>G
|
|
|
NM_000051.4(ATM):c.331+17A>T
|
|
|
NM_000051.4(ATM):c.331+18T>C
|
|
|
NM_000051.4(ATM):c.331+18T>G
|
|
|
NM_000051.4(ATM):c.331+19T>G
|
|
|
NM_000051.4(ATM):c.331+19_331+25del
|
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+1G>C
|
|
|
NM_000051.4(ATM):c.331+20A>G
|
|
|
NM_000051.4(ATM):c.331+21_331+26del
|
rs2078895533
|
|
NM_000051.4(ATM):c.331+2800A>G
|
|
|
NM_000051.4(ATM):c.331+2T>C
|
rs1555055358
|
|
NM_000051.4(ATM):c.331+2T>G
|
rs1555055358
|
|
NM_000051.4(ATM):c.331+2_331+7del
|
|
|
NM_000051.4(ATM):c.331+37C>T
|
|
|
NM_000051.4(ATM):c.331+3A>C
|
rs2078894221
|
|
NM_000051.4(ATM):c.331+3A>G
|
|
|
NM_000051.4(ATM):c.331+3A>T
|
|
|
NM_000051.4(ATM):c.331+48C>T
|
|
|
NM_000051.4(ATM):c.331+4A>G
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.331+5G>C
|
|
|
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.331+6T>G
|
rs1555055363
|
|
NM_000051.4(ATM):c.331+8A>G
|
rs878853503
|
|
NM_000051.4(ATM):c.3310T>C (p.Ser1104Pro)
|
|
|
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys)
|
rs1555090126
|
|
NM_000051.4(ATM):c.3312T>C (p.Ser1104=)
|
|
|
NM_000051.4(ATM):c.3314C>A (p.Ser1105Tyr)
|
rs141999815
|
|
NM_000051.4(ATM):c.3314C>G (p.Ser1105Cys)
|
|
|
NM_000051.4(ATM):c.3315C>G (p.Ser1105=)
|
rs1565439055
|
|
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
|
|
|
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)
|
rs1057516301
|
|
NM_000051.4(ATM):c.3316A>C (p.Arg1106=)
|
rs2135643101
|
|
NM_000051.4(ATM):c.3316A>G (p.Arg1106Gly)
|
|
|
NM_000051.4(ATM):c.3317G>A (p.Arg1106Lys)
|
|
|
NM_000051.4(ATM):c.3317G>C (p.Arg1106Thr)
|
|
|
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
|
|
|
NM_000051.4(ATM):c.3318del (p.Arg1106fs)
|
|
|
NM_000051.4(ATM):c.332-1009A>T
|
|
|
NM_000051.4(ATM):c.332-1015T>G
|
|
|
NM_000051.4(ATM):c.332-11T>A
|
|
|
NM_000051.4(ATM):c.332-11T>C
|
rs1565356404
|
|
NM_000051.4(ATM):c.332-159del
|
rs535426066
|
|
NM_000051.4(ATM):c.332-15T>G
|
|
|
NM_000051.4(ATM):c.332-16G>C
|
rs2135120413
|
|
NM_000051.4(ATM):c.332-16G>T
|
|
|
NM_000051.4(ATM):c.332-16_332-13del
|
|
|
NM_000051.4(ATM):c.332-1G>C
|
|
|
NM_000051.4(ATM):c.332-20A>G
|
rs1555058985
|
|
NM_000051.4(ATM):c.332-20A>T
|
|
|
NM_000051.4(ATM):c.332-20_332-17del
|
rs898739905
|
|
NM_000051.4(ATM):c.332-3_347del
|
|
|
NM_000051.4(ATM):c.332-4A>G
|
|
|
NM_000051.4(ATM):c.332-4A>T
|
rs2135120646
|
|
NM_000051.4(ATM):c.332-5A>T
|
rs1057522447
|
|
NM_000051.4(ATM):c.332-7G>A
|
rs1591474291
|
|
NM_000051.4(ATM):c.332-7G>C
|
rs1591474291
|
|
NM_000051.4(ATM):c.332-7G>T
|
rs1591474291
|
|
NM_000051.4(ATM):c.332-8T>A
|
rs2079233073
|
|
NM_000051.4(ATM):c.332-8T>C
|
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
NM_000051.4(ATM):c.3320T>C (p.Leu1107Ser)
|
|
|
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)
|
rs1555090139
|
|
NM_000051.4(ATM):c.3321A>G (p.Leu1107=)
|
|
|
NM_000051.4(ATM):c.3321A>T (p.Leu1107Phe)
|
rs2135643264
|
|
NM_000051.4(ATM):c.3322C>T (p.Leu1108=)
|
rs1555090147
|
|
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro)
|
rs2082117640
|
|
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
|
|
|
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)
|
rs762269034
|
|
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)
|
rs1479434069
|
|
NM_000051.4(ATM):c.3330A>C (p.Ala1110=)
|
rs1009383081
|
|
NM_000051.4(ATM):c.3331C>T (p.Leu1111Phe)
|
|
|
NM_000051.4(ATM):c.3332T>G (p.Leu1111Arg)
|
rs876658363
|
|
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala)
|
rs876658963
|
|
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser)
|
rs876658963
|
|
NM_000051.4(ATM):c.3334_3336del (p.Pro1112del)
|
|
|
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg)
|
rs1064795850
|
|
NM_000051.4(ATM):c.3335C>T (p.Pro1112Leu)
|
rs1064795850
|
|
NM_000051.4(ATM):c.3335del (p.Pro1112fs)
|
rs876660031
|
|
NM_000051.4(ATM):c.3335dup (p.Leu1113fs)
|
rs876660031
|
|
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met)
|
rs1022672642
|
|
NM_000051.4(ATM):c.3337T>C (p.Leu1113=)
|
|
|
NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter)
|
rs1591632166
|
|
NM_000051.4(ATM):c.3338T>C (p.Leu1113Ser)
|
rs1591632166
|
|
NM_000051.4(ATM):c.3339G>A (p.Leu1113=)
|
rs1591632173
|
|
NM_000051.4(ATM):c.333A>G (p.Arg111=)
|
rs2135120788
|
|
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)
|
rs752339681
|
|
NM_000051.4(ATM):c.3345T>C (p.Leu1115=)
|
|
|
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)
|
rs2135644009
|
|
NM_000051.4(ATM):c.3346del (p.Gln1116fs)
|
|
|
NM_000051.4(ATM):c.3347A>C (p.Gln1116Pro)
|
rs1555090213
|
|
NM_000051.4(ATM):c.3347A>T (p.Gln1116Leu)
|
|
|
NM_000051.4(ATM):c.3348del (p.Gln1116fs)
|
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer)
|
rs1064796055
|
|
NM_000051.4(ATM):c.3349_3384del (p.Gln1117_Gln1128del)
|
rs2135643982
|
|
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg)
|
rs755828033
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
NM_000051.4(ATM):c.3355G>T (p.Ala1119Ser)
|
rs786201956
|
|
NM_000051.4(ATM):c.3356C>A (p.Ala1119Asp)
|
rs778882461
|
|
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val)
|
rs778882461
|
|
NM_000051.4(ATM):c.3356_3357del (p.Ala1119fs)
|
|
|
NM_000051.4(ATM):c.3357T>G (p.Ala1119=)
|
rs1591632314
|
|
NM_000051.4(ATM):c.3358T>C (p.Phe1120Leu)
|
|
|
NM_000051.4(ATM):c.335C>A (p.Ala112Glu)
|
rs1591474358
|
|
NM_000051.4(ATM):c.335C>T (p.Ala112Val)
|
rs1591474358
|
|
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu)
|
rs2082121277
|
|
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly)
|
rs876660607
|
|
NM_000051.4(ATM):c.3363A>G (p.Glu1121=)
|
|
|
NM_000051.4(ATM):c.3366T>C (p.Asn1122=)
|
rs2135644622
|
|
NM_000051.4(ATM):c.3366del (p.Asn1122fs)
|
|
|
NM_000051.4(ATM):c.3367G>A (p.Ala1123Thr)
|
rs1060501581
|
|
NM_000051.4(ATM):c.3367G>C (p.Ala1123Pro)
|
rs1060501581
|
|
NM_000051.4(ATM):c.3368C>A (p.Ala1123Glu)
|
rs2135644677
|
|
NM_000051.4(ATM):c.3368C>T (p.Ala1123Val)
|
|
|
NM_000051.4(ATM):c.3369A>T (p.Ala1123=)
|
rs587780543
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
NM_000051.4(ATM):c.336A>G (p.Ala112=)
|
rs777759909
|
|
NM_000051.4(ATM):c.336A>T (p.Ala112=)
|
rs777759909
|
|
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His)
|
rs2082121841
|
|
NM_000051.4(ATM):c.3370del (p.Tyr1124fs)
|
|
|
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)
|
|
|
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys)
|
rs876660498
|
|
NM_000051.4(ATM):c.3372C>T (p.Tyr1124=)
|
rs587779833
|
|
NM_000051.4(ATM):c.3373T>A (p.Leu1125Met)
|
|
|
NM_000051.4(ATM):c.3373T>G (p.Leu1125Val)
|
rs775277598
|
|
NM_000051.4(ATM):c.3375G>A (p.Leu1125=)
|
rs760821273
|
|
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu)
|
rs1310591343
|
|
NM_000051.4(ATM):c.3376_3377insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2135644510
|
|
NM_000051.4(ATM):c.3376_3377insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126fs)
|
rs2135644510
|
|
NM_000051.4(ATM):c.3380C>A (p.Ala1127Asp)
|
rs1555090340
|
|
NM_000051.4(ATM):c.3381T>C (p.Ala1127=)
|
rs1371503633
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)
|
rs876659825
|
|
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)
|
rs876659825
|
|
NM_000051.4(ATM):c.3384G>A (p.Gln1128=)
|
rs1565439537
|
|
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys)
|
rs876658463
|
|
NM_000051.4(ATM):c.3385G>C (p.Glu1129Gln)
|
|
|
NM_000051.4(ATM):c.3387del (p.Gly1130fs)
|
rs1591632498
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
NM_000051.4(ATM):c.3389G>C (p.Gly1130Ala)
|
rs1060501544
|
|
NM_000051.4(ATM):c.3389G>T (p.Gly1130Val)
|
|
|
NM_000051.4(ATM):c.338C>T (p.Pro113Leu)
|
rs876658324
|
|
NM_000051.4(ATM):c.3390A>C (p.Gly1130=)
|
|
|
NM_000051.4(ATM):c.3391del (p.Gly1130_Met1131insTer)
|
|
|
NM_000051.4(ATM):c.3392T>C (p.Met1131Thr)
|
rs2082123790
|
|
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile)
|
rs1565439576
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
NM_000051.4(ATM):c.3394A>T (p.Arg1132Ter)
|
|
|
NM_000051.4(ATM):c.3395G>A (p.Arg1132Lys)
|
rs2135645575
|
|
NM_000051.4(ATM):c.3396A>T (p.Arg1132Ser)
|
|
|
NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)
|
|
|
NM_000051.4(ATM):c.3398A>C (p.Glu1133Ala)
|
|
|
NM_000051.4(ATM):c.3398A>G (p.Glu1133Gly)
|
rs1565439583
|
|
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val)
|
rs1565439583
|
|
NM_000051.4(ATM):c.3399A>C (p.Glu1133Asp)
|
rs1555090364
|
|
NM_000051.4(ATM):c.339T>C (p.Pro113=)
|
rs1555059023
|
|
NM_000051.4(ATM):c.33C>T (p.Cys11=)
|
rs1555053901
|
|
NM_000051.4(ATM):c.3400A>C (p.Met1134Leu)
|
rs1591632583
|
|
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)
|
rs1591632583
|
|
NM_000051.4(ATM):c.3401T>C (p.Met1134Thr)
|
|
|
NM_000051.4(ATM):c.3402+10A>G
|
rs919002854
|
|
NM_000051.4(ATM):c.3402+13A>C
|
rs2082125198
|
|
NM_000051.4(ATM):c.3402+13A>G
|
|
|
NM_000051.4(ATM):c.3402+16A>T
|
|
|
NM_000051.4(ATM):c.3402+17T>A
|
|
|
NM_000051.4(ATM):c.3402+17T>G
|
|
|
NM_000051.4(ATM):c.3402+18G>A
|
rs752000273
|
|
NM_000051.4(ATM):c.3402+18G>C
|
rs752000273
|
|
NM_000051.4(ATM):c.3402+1G>A
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+1G>C
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+1G>T
|
rs1565439606
|
|
NM_000051.4(ATM):c.3402+2T>C
|
rs876659430
|
|
NM_000051.4(ATM):c.3402+32_3402+34del
|
rs545376366
|
|
NM_000051.4(ATM):c.3402+39T>C
|
|
|
NM_000051.4(ATM):c.3402+3A>C
|
rs786203688
|
|
NM_000051.4(ATM):c.3402G>T (p.Met1134Ile)
|
|
|
NM_000051.4(ATM):c.3403-12_3403-4delinsATTTC
|
|
|
NM_000051.4(ATM):c.3403-13A>T
|
rs1591636037
|
|
NM_000051.4(ATM):c.3403-13_3403-12insC
|
rs1555091099
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.3403-14_3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.3403-14_3403-13insG
|
rs1555091097
|
|
NM_000051.4(ATM):c.3403-14_3403-13insT
|
rs1555091097
|
|
NM_000051.4(ATM):c.3403-15_3403-14dup
|
rs2135664759
|
|
NM_000051.4(ATM):c.3403-15del
|
|
|
NM_000051.4(ATM):c.3403-15delinsAA
|
rs1555091094
|
|
NM_000051.4(ATM):c.3403-15delinsAAA
|
rs1555091094
|
|
NM_000051.4(ATM):c.3403-15delinsATA
|
rs1555091094
|
|
NM_000051.4(ATM):c.3403-15dup
|
rs1555091083
|
|
NM_000051.4(ATM):c.3403-16_3403-15dup
|
|
|
NM_000051.4(ATM):c.3403-16_3403-15inv
|
|
|
NM_000051.4(ATM):c.3403-1G>A
|
rs1555091120
|
|
NM_000051.4(ATM):c.3403-1G>T
|
|
|
NM_000051.4(ATM):c.3403-1_3577-680del
|
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
NM_000051.4(ATM):c.3403-5T>G
|
|
|
NM_000051.4(ATM):c.3403-5_3403-4del
|
|
|
NM_000051.4(ATM):c.3403-6T>C
|
rs2082201418
|
|
NM_000051.4(ATM):c.3403-6T>G
|
rs2082201418
|
|
NM_000051.4(ATM):c.3403-7T>C
|
rs1335592958
|
|
NM_000051.4(ATM):c.3403-8T>C
|
|
|
NM_000051.4(ATM):c.3403-8_3403-4del
|
rs1555091114
|
|
NM_000051.4(ATM):c.3403-9C>A
|
rs375483605
|
|
NM_000051.4(ATM):c.3403-9C>T
|
rs375483605
|
|
NM_000051.4(ATM):c.3403T>G (p.Ser1135Ala)
|
rs1565441341
|
|
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr)
|
rs2082202102
|
|
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer)
|
rs1591636185
|
|
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
|
|
|
NM_000051.4(ATM):c.3405C>T (p.Ser1135=)
|
rs746829748
|
|
NM_000051.4(ATM):c.3406C>G (p.His1136Asp)
|
rs2082202374
|
|
NM_000051.4(ATM):c.3408T>C (p.His1136=)
|
|
|
NM_000051.4(ATM):c.3408T>G (p.His1136Gln)
|
rs1565441369
|
|
NM_000051.4(ATM):c.3409A>G (p.Ser1137Gly)
|
|
|
NM_000051.4(ATM):c.340A>G (p.Arg114Gly)
|
rs927409082
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
|
|
NM_000051.4(ATM):c.3410G>A (p.Ser1137Asn)
|
rs876659633
|
|
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly)
|
rs1565441399
|
|
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)
|
|
|
NM_000051.4(ATM):c.3414T>C (p.Ala1138=)
|
rs1565441410
|
|
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys)
|
rs786203048
|
|
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)
|
rs879254069
|
|
NM_000051.4(ATM):c.3417G>C (p.Glu1139Asp)
|
rs879254069
|
|
NM_000051.4(ATM):c.3419A>C (p.Asn1140Thr)
|
rs2082203374
|
|
NM_000051.4(ATM):c.3419A>G (p.Asn1140Ser)
|
|
|
NM_000051.4(ATM):c.3419del (p.Asn1140fs)
|
rs1555091141
|
|
NM_000051.4(ATM):c.341G>A (p.Arg114Lys)
|
|
|
NM_000051.4(ATM):c.3420C>A (p.Asn1140Lys)
|
|
|
NM_000051.4(ATM):c.3420C>T (p.Asn1140=)
|
rs1329688204
|
|
NM_000051.4(ATM):c.3421C>G (p.Pro1141Ala)
|
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
|
|
NM_000051.4(ATM):c.3424G>A (p.Glu1142Lys)
|
rs2082203589
|
|
NM_000051.4(ATM):c.3425A>C (p.Glu1142Ala)
|
rs2082203682
|
|
NM_000051.4(ATM):c.3427A>T (p.Thr1143Ser)
|
rs1555091146
|
|
NM_000051.4(ATM):c.3428C>T (p.Thr1143Ile)
|
rs748375410
|
|
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
|
|
|
NM_000051.4(ATM):c.342G>A (p.Arg114=)
|
rs1555059036
|
|
NM_000051.4(ATM):c.342G>C (p.Arg114Ser)
|
rs1555059036
|
|
NM_000051.4(ATM):c.3430T>C (p.Leu1144=)
|
rs2135665912
|
|
NM_000051.4(ATM):c.3430_3431del (p.Leu1144fs)
|
rs1555091158
|
|
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser)
|
rs879253949
|
|
NM_000051.4(ATM):c.3431del (p.Leu1144fs)
|
rs1555091158
|
|
NM_000051.4(ATM):c.3433G>T (p.Asp1145Tyr)
|
|
|
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3434A>G (p.Asp1145Gly)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3434A>T (p.Asp1145Val)
|
rs1183646267
|
|
NM_000051.4(ATM):c.3434dup (p.Asp1145fs)
|
|
|
NM_000051.4(ATM):c.3435T>A (p.Asp1145Glu)
|
rs2082204446
|
|
NM_000051.4(ATM):c.3435T>C (p.Asp1145=)
|
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.3435del (p.Asp1145fs)
|
rs1591636349
|
|
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys)
|
rs1565441511
|
|
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)
|
rs1565441511
|
|
NM_000051.4(ATM):c.3437A>G (p.Glu1146Gly)
|
rs1555091169
|
|
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val)
|
rs769853739
|
|
NM_000051.4(ATM):c.343C>G (p.Leu115Val)
|
rs1555059048
|
|
NM_000051.4(ATM):c.343C>T (p.Leu115=)
|
rs1555059048
|
|
NM_000051.4(ATM):c.3442del (p.Tyr1148fs)
|
rs2135666319
|
|
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=)
|
rs1591636407
|
|
NM_000051.4(ATM):c.3445A>G (p.Asn1149Asp)
|
|
|
NM_000051.4(ATM):c.3445A>T (p.Asn1149Tyr)
|
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
NM_000051.4(ATM):c.3447T>G (p.Asn1149Lys)
|
|
|
NM_000051.4(ATM):c.3447del (p.Asn1149fs)
|
rs2135666442
|
|
NM_000051.4(ATM):c.3448A>C (p.Arg1150=)
|
rs786201209
|
|
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)
|
rs786201209
|
|
NM_000051.4(ATM):c.3449G>A (p.Arg1150Lys)
|
rs555219189
|
|
NM_000051.4(ATM):c.344T>G (p.Leu115Arg)
|
rs876659791
|
|
NM_000051.4(ATM):c.3450A>G (p.Arg1150=)
|
rs2135666527
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln)
|
|
|
NM_000051.4(ATM):c.3451A>T (p.Lys1151Ter)
|
rs1555091196
|
|
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)
|
rs2135666539
|
|
NM_000051.4(ATM):c.3454T>C (p.Ser1152Pro)
|
rs1176188506
|
|
NM_000051.4(ATM):c.3454T>G (p.Ser1152Ala)
|
rs1176188506
|
|
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr)
|
rs775045299
|
|
NM_000051.4(ATM):c.3455C>G (p.Ser1152Cys)
|
rs775045299
|
|
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs)
|
rs2135666711
|
|
NM_000051.4(ATM):c.3456T>G (p.Ser1152=)
|
rs2135666779
|
|
NM_000051.4(ATM):c.3457G>A (p.Val1153Ile)
|
rs863224562
|
|
NM_000051.4(ATM):c.3457G>C (p.Val1153Leu)
|
rs863224562
|
|
NM_000051.4(ATM):c.3457G>T (p.Val1153Phe)
|
rs863224562
|
|
NM_000051.4(ATM):c.3458T>C (p.Val1153Ala)
|
rs12788418
|
|
NM_000051.4(ATM):c.3459T>G (p.Val1153=)
|
|
|
NM_000051.4(ATM):c.345A>C (p.Leu115=)
|
|
|
NM_000051.4(ATM):c.345A>G (p.Leu115=)
|
rs2079235213
|
|
NM_000051.4(ATM):c.3460T>C (p.Leu1154=)
|
rs1591636498
|
|
NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter)
|
rs2135666960
|
|
NM_000051.4(ATM):c.3461T>C (p.Leu1154Ser)
|
rs2135666960
|
|
NM_000051.4(ATM):c.3463C>T (p.Leu1155=)
|
rs1555091217
|
|
NM_000051.4(ATM):c.3465G>A (p.Leu1155=)
|
|
|
NM_000051.4(ATM):c.3465G>C (p.Leu1155=)
|
|
|
NM_000051.4(ATM):c.3465G>T (p.Leu1155=)
|
|
|
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
|
|
|
NM_000051.4(ATM):c.3469T>G (p.Leu1157Val)
|
rs2082206791
|
|
NM_000051.4(ATM):c.346A>C (p.Lys116Gln)
|
|
|
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
|
|
|
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser)
|
rs2135667225
|
|
NM_000051.4(ATM):c.3471G>A (p.Leu1157=)
|
rs878853504
|
|
NM_000051.4(ATM):c.3472A>T (p.Ile1158Leu)
|
|
|
NM_000051.4(ATM):c.3473T>A (p.Ile1158Lys)
|
|
|
NM_000051.4(ATM):c.3474A>C (p.Ile1158=)
|
|
|
NM_000051.4(ATM):c.3475G>A (p.Ala1159Thr)
|
|
|
NM_000051.4(ATM):c.3475G>C (p.Ala1159Pro)
|
|
|
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser)
|
rs2135667356
|
|
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
|
|
|
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)
|
|
|
NM_000051.4(ATM):c.3479T>G (p.Val1160Gly)
|
rs12788427
|
|
NM_000051.4(ATM):c.3480G>A (p.Val1160=)
|
rs1001303564
|
|
NM_000051.4(ATM):c.3480G>T (p.Val1160=)
|
rs1001303564
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
NM_000051.4(ATM):c.3481G>A (p.Val1161Ile)
|
rs1565441792
|
|
NM_000051.4(ATM):c.3481G>C (p.Val1161Leu)
|
rs1565441792
|
|
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala)
|
rs12788429
|
|
NM_000051.4(ATM):c.3484T>C (p.Leu1162=)
|
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
NM_000051.4(ATM):c.3485del (p.Leu1162fs)
|
rs2082207948
|
|
NM_000051.4(ATM):c.3486A>G (p.Leu1162=)
|
|
|
NM_000051.4(ATM):c.3487T>C (p.Ser1163Pro)
|
|
|
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)
|
rs864622097
|
|
NM_000051.4(ATM):c.3489dup (p.Cys1164fs)
|
rs2082208208
|
|
NM_000051.4(ATM):c.3490T>C (p.Cys1164Arg)
|
|
|
NM_000051.4(ATM):c.3490T>G (p.Cys1164Gly)
|
rs2135667927
|
|
NM_000051.4(ATM):c.3491G>A (p.Cys1164Tyr)
|
rs2082208412
|
|
NM_000051.4(ATM):c.3491G>C (p.Cys1164Ser)
|
|
|
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly)
|
rs1351059730
|
|
NM_000051.4(ATM):c.3493A>T (p.Ser1165Cys)
|
rs1351059730
|
|
NM_000051.4(ATM):c.3494G>A (p.Ser1165Asn)
|
|
|
NM_000051.4(ATM):c.3494G>T (p.Ser1165Ile)
|
rs2082208653
|
|
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg)
|
rs878853505
|
|
NM_000051.4(ATM):c.3495C>T (p.Ser1165=)
|
rs878853505
|
|
NM_000051.4(ATM):c.3496C>T (p.Pro1166Ser)
|
rs867360777
|
|
NM_000051.4(ATM):c.3497C>G (p.Pro1166Arg)
|
|
|
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)
|
rs1555091273
|
|
NM_000051.4(ATM):c.3498T>G (p.Pro1166=)
|
|
|
NM_000051.4(ATM):c.3499A>C (p.Ile1167Leu)
|
rs1222634243
|
|
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)
|
rs1222634243
|
|
NM_000051.4(ATM):c.349T>C (p.Cys117Arg)
|
|
|
NM_000051.4(ATM):c.349T>G (p.Cys117Gly)
|
rs1555059059
|
|
NM_000051.4(ATM):c.34T>C (p.Cys12Arg)
|
rs1060501597
|
|
NM_000051.4(ATM):c.3501C>A (p.Ile1167=)
|
|
|
NM_000051.4(ATM):c.3501C>T (p.Ile1167=)
|
rs1555091279
|
|
NM_000051.4(ATM):c.3502T>A (p.Cys1168Ser)
|
rs749933079
|
|
NM_000051.4(ATM):c.3503G>A (p.Cys1168Tyr)
|
|
|
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)
|
rs2082209411
|
|
NM_000051.4(ATM):c.3506A>G (p.Glu1169Gly)
|
|
|
NM_000051.4(ATM):c.3507A>G (p.Glu1169=)
|
rs1555091291
|
|
NM_000051.4(ATM):c.3507A>T (p.Glu1169Asp)
|
rs1555091291
|
|
NM_000051.4(ATM):c.3508A>G (p.Lys1170Glu)
|
rs1555091295
|
|
NM_000051.4(ATM):c.3509A>C (p.Lys1170Thr)
|
rs1591636761
|
|
NM_000051.4(ATM):c.3509A>T (p.Lys1170Ile)
|
|
|
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr)
|
rs1555059066
|
|
NM_000051.4(ATM):c.350G>T (p.Cys117Phe)
|
rs1555059066
|
|
NM_000051.4(ATM):c.3510A>G (p.Lys1170=)
|
rs2135668576
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu)
|
rs876659067
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs)
|
rs1555091302
|
|
NM_000051.4(ATM):c.3512A>C (p.Gln1171Pro)
|
rs1555091325
|
|
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
|
|
|
NM_000051.4(ATM):c.3512_3513del (p.Gln1171fs)
|
|
|
NM_000051.4(ATM):c.3513G>A (p.Gln1171=)
|
rs757201878
|
|
NM_000051.4(ATM):c.3513G>C (p.Gln1171His)
|
rs757201878
|
|
NM_000051.4(ATM):c.3513G>T (p.Gln1171His)
|
rs757201878
|
|
NM_000051.4(ATM):c.3514G>T (p.Ala1172Ser)
|
rs779946941
|
|
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
|
|
|
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val)
|
rs2082210652
|
|
NM_000051.4(ATM):c.3516T>G (p.Ala1172=)
|
|
|
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val)
|
rs141460670
|
|
NM_000051.4(ATM):c.3518del (p.Leu1173fs)
|
rs1591636817
|
|
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3519G>T (p.Leu1173Phe)
|
rs1565442034
|
|
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)
|
rs1394502687
|
|
NM_000051.4(ATM):c.3521T>A (p.Phe1174Tyr)
|
rs1416574870
|
|
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
|
|
|
NM_000051.4(ATM):c.3523del (p.Ala1175fs)
|
rs2135669053
|
|
NM_000051.4(ATM):c.3524C>A (p.Ala1175Asp)
|
rs2135669077
|
|
NM_000051.4(ATM):c.3524C>T (p.Ala1175Val)
|
|
|
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
|
|
|
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
|
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro)
|
rs587782762
|
|
NM_000051.4(ATM):c.3527T>G (p.Leu1176Arg)
|
rs587782762
|
|
NM_000051.4(ATM):c.3527del (p.Leu1176fs)
|
rs2135669236
|
|
NM_000051.4(ATM):c.3528G>A (p.Leu1176=)
|
|
|
NM_000051.4(ATM):c.3528G>T (p.Leu1176=)
|
rs748335454
|
|
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg)
|
rs2135669298
|
|
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
|
rs2079235532
|
|
NM_000051.4(ATM):c.3530G>A (p.Cys1177Tyr)
|
rs587782470
|
|
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)
|
rs587782470
|
|
NM_000051.4(ATM):c.3531T>C (p.Cys1177=)
|
rs876659546
|
|
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3533A>G (p.Lys1178Arg)
|
rs1565442144
|
|
NM_000051.4(ATM):c.3534A>G (p.Lys1178=)
|
|
|
NM_000051.4(ATM):c.3534A>T (p.Lys1178Asn)
|
|
|
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro)
|
rs2135669484
|
|
NM_000051.4(ATM):c.3536C>A (p.Ser1179Tyr)
|
|
|
NM_000051.4(ATM):c.3537T>C (p.Ser1179=)
|
|
|
NM_000051.4(ATM):c.3537T>G (p.Ser1179=)
|
|
|
NM_000051.4(ATM):c.3538G>A (p.Val1180Met)
|
rs1060501531
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
NM_000051.4(ATM):c.353A>G (p.Gln118Arg)
|
rs1555059070
|
|
NM_000051.4(ATM):c.3540G>A (p.Val1180=)
|
|
|
NM_000051.4(ATM):c.3540G>T (p.Val1180=)
|
|
|
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)
|
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs)
|
rs746598992
|
|
NM_000051.4(ATM):c.3543A>G (p.Lys1181=)
|
rs1555091382
|
|
NM_000051.4(ATM):c.3544G>A (p.Glu1182Lys)
|
|
|
NM_000051.4(ATM):c.3545A>T (p.Glu1182Val)
|
rs1555091393
|
|
NM_000051.4(ATM):c.3546G>T (p.Glu1182Asp)
|
rs1591637015
|
|
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)
|
rs768356403
|
|
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp)
|
rs773290999
|
|
NM_000051.4(ATM):c.3548del (p.Asn1183fs)
|
|
|
NM_000051.4(ATM):c.3549T>A (p.Asn1183Lys)
|
|
|
NM_000051.4(ATM):c.354A>G (p.Gln118=)
|
rs1188306380
|
|
NM_000051.4(ATM):c.3550G>A (p.Gly1184Arg)
|
rs1555091402
|
|
NM_000051.4(ATM):c.3550G>T (p.Gly1184Ter)
|
rs1555091402
|
|
NM_000051.4(ATM):c.3551G>A (p.Gly1184Glu)
|
rs2135669947
|
|
NM_000051.4(ATM):c.3551del (p.Gly1184fs)
|
|
|
NM_000051.4(ATM):c.3552A>C (p.Gly1184=)
|
|
|
NM_000051.4(ATM):c.3552A>T (p.Gly1184=)
|
|
|
NM_000051.4(ATM):c.3553T>C (p.Leu1185=)
|
|
|
NM_000051.4(ATM):c.3557A>T (p.Glu1186Val)
|
rs2082213706
|
|
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)
|
rs12786957
|
|
NM_000051.4(ATM):c.3558A>T (p.Glu1186Asp)
|
rs12786957
|
|
NM_000051.4(ATM):c.3559C>T (p.Pro1187Ser)
|
rs2082213794
|
|
NM_000051.4(ATM):c.3560del (p.Pro1187fs)
|
|
|
NM_000051.4(ATM):c.3562C>T (p.His1188Tyr)
|
rs2082213882
|
|
NM_000051.4(ATM):c.3563A>C (p.His1188Pro)
|
rs12786960
|
|
NM_000051.4(ATM):c.3565C>G (p.Leu1189Val)
|
rs370602633
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)
|
rs1555091431
|
|
NM_000051.4(ATM):c.3568G>C (p.Val1190Leu)
|
rs876660708
|
|
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala)
|
rs1060501708
|
|
NM_000051.4(ATM):c.3569del (p.Val1190fs)
|
|
|
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)
|
|
|
NM_000051.4(ATM):c.3570G>A (p.Val1190=)
|
rs1347241379
|
|
NM_000051.4(ATM):c.3571_3576+1del
|
rs2135670424
|
|
NM_000051.4(ATM):c.3575A>C (p.Lys1192Thr)
|
|
|
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg)
|
rs1555091451
|
|
NM_000051.4(ATM):c.3576+10G>A
|
rs1057523063
|
|
NM_000051.4(ATM):c.3576+10G>T
|
|
|
NM_000051.4(ATM):c.3576+12_3576+14del
|
|
|
NM_000051.4(ATM):c.3576+1G>A
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+1G>T
|
rs876660621
|
|
NM_000051.4(ATM):c.3576+28A>C
|
rs3092851
|
|
NM_000051.4(ATM):c.3576+3A>G
|
rs2082214908
|
|
NM_000051.4(ATM):c.3576+3_3576+5delinsGAG
|
|
|
NM_000051.4(ATM):c.3576+4T>C
|
rs1591637164
|
|
NM_000051.4(ATM):c.3576+687delinsTTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT
|
rs1555091761
|
|
NM_000051.4(ATM):c.3576+7A>G
|
rs761486334
|
|
NM_000051.4(ATM):c.3576+8T>C
|
rs1591637198
|
|
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
|
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
NM_000051.4(ATM):c.3576_3576+7del
|
|
|
NM_000051.4(ATM):c.3577-10G>A
|
rs1343046904
|
|
NM_000051.4(ATM):c.3577-10G>C
|
|
|
NM_000051.4(ATM):c.3577-11G>C
|
rs2135685988
|
|
NM_000051.4(ATM):c.3577-12del
|
rs730881288
|
|
NM_000051.4(ATM):c.3577-13_3577-12del
|
rs730881288
|
|
NM_000051.4(ATM):c.3577-14T>C
|
rs2082292356
|
|
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.3577-16T>A
|
|
|
NM_000051.4(ATM):c.3577-16T>G
|
|
|
NM_000051.4(ATM):c.3577-17_3577-16delinsA
|
rs2082291998
|
|
NM_000051.4(ATM):c.3577-17del
|
|
|
NM_000051.4(ATM):c.3577-18A>G
|
rs2135685737
|
|
NM_000051.4(ATM):c.3577-19G>A
|
|
|
NM_000051.4(ATM):c.3577-1G>A
|
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
NM_000051.4(ATM):c.3577-1G>T
|
|
|
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
|
|
|
NM_000051.4(ATM):c.3577-20T>G
|
rs921452019
|
|
NM_000051.4(ATM):c.3577-242_3577-233del
|
rs138417879
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3577-30C>G
|
rs751436997
|
|
NM_000051.4(ATM):c.3577-30C>T
|
rs751436997
|
|
NM_000051.4(ATM):c.3577-3C>A
|
rs876659700
|
|
NM_000051.4(ATM):c.3577-3C>G
|
rs876659700
|
|
NM_000051.4(ATM):c.3577-46T>C
|
|
|
NM_000051.4(ATM):c.3577-4G>T
|
rs2135686331
|
|
NM_000051.4(ATM):c.3577-5T>C
|
rs1555092229
|
|
NM_000051.4(ATM):c.3577-6G>C
|
|
|
NM_000051.4(ATM):c.3577-7C>A
|
rs558667657
|
|
NM_000051.4(ATM):c.3577-8T>C
|
rs1555092222
|
|
NM_000051.4(ATM):c.3577-9T>G
|
|
|
NM_000051.4(ATM):c.3577-9_3583del
|
rs1555092219
|
|
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala)
|
rs1591640918
|
|
NM_000051.4(ATM):c.3579T>G (p.Val1193=)
|
rs1555092241
|
|
NM_000051.4(ATM):c.357dup (p.Leu120fs)
|
rs1591474530
|
|
NM_000051.4(ATM):c.3581T>C (p.Leu1194Ser)
|
rs2082294481
|
|
NM_000051.4(ATM):c.3582A>G (p.Leu1194=)
|
rs1591640938
|
|
NM_000051.4(ATM):c.3583G>C (p.Glu1195Gln)
|
rs2135686630
|
|
NM_000051.4(ATM):c.3584A>G (p.Glu1195Gly)
|
rs1167713135
|
|
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
|
|
|
NM_000051.4(ATM):c.3586A>G (p.Lys1196Glu)
|
rs2135686751
|
|
NM_000051.4(ATM):c.3587A>T (p.Lys1196Ile)
|
|
|
NM_000051.4(ATM):c.3587_3588del (p.Lys1196fs)
|
|
|
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala)
|
rs1555092259
|
|
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro)
|
rs1555092260
|
|
NM_000051.4(ATM):c.3592T>G (p.Ser1198Ala)
|
|
|
NM_000051.4(ATM):c.3593C>G (p.Ser1198Cys)
|
|
|
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>C (p.Glu1199Ala)
|
|
|
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)
|
rs876660855
|
|
NM_000051.4(ATM):c.3597A>G (p.Glu1199=)
|
rs2135687051
|
|
NM_000051.4(ATM):c.3598A>G (p.Thr1200Ala)
|
rs772741084
|
|
NM_000051.4(ATM):c.3599C>A (p.Thr1200Asn)
|
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
NM_000051.4(ATM):c.359T>G (p.Leu120Arg)
|
|
|
NM_000051.4(ATM):c.35G>A (p.Cys12Tyr)
|
rs1591445899
|
|
NM_000051.4(ATM):c.3600T>C (p.Thr1200=)
|
|
|
NM_000051.4(ATM):c.3601T>G (p.Phe1201Val)
|
rs576884305
|
|
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser)
|
rs1565444496
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3603T>C (p.Phe1201=)
|
rs1591641079
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3604G>C (p.Gly1202Arg)
|
|
|
NM_000051.4(ATM):c.3604G>T (p.Gly1202Ter)
|
rs536110861
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3605G>T (p.Gly1202Val)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3606A>C (p.Gly1202=)
|
rs1189826741
|
|
NM_000051.4(ATM):c.3609T>A (p.Tyr1203Ter)
|
|
|
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
|
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
NM_000051.4(ATM):c.360C>G (p.Leu120=)
|
rs749489010
|
|
NM_000051.4(ATM):c.360C>T (p.Leu120=)
|
rs749489010
|
|
NM_000051.4(ATM):c.3610A>G (p.Arg1204Gly)
|
rs2135687439
|
|
NM_000051.4(ATM):c.3611G>A (p.Arg1204Lys)
|
rs786203066
|
|
NM_000051.4(ATM):c.3612A>C (p.Arg1204Ser)
|
|
|
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
|
|
|
NM_000051.4(ATM):c.3613_3614insTTTATGTTTAGAA (p.Arg1205delinsLeuTyrValTer)
|
|
|
NM_000051.4(ATM):c.3614G>T (p.Arg1205Leu)
|
|
|
NM_000051.4(ATM):c.3616T>C (p.Leu1206=)
|
|
|
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
|
|
|
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser)
|
rs1555092317
|
|
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
|
|
|
NM_000051.4(ATM):c.3617_3620del (p.Arg1205_Leu1206insTer)
|
rs2135687676
|
|
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)
|
rs876660783
|
|
NM_000051.4(ATM):c.3617dup (p.Leu1206fs)
|
rs2082297073
|
|
NM_000051.4(ATM):c.3618A>C (p.Leu1206Phe)
|
rs786201151
|
|
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)
|
rs786201151
|
|
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln)
|
rs772724024
|
|
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)
|
rs772724024
|
|
NM_000051.4(ATM):c.361T>C (p.Leu121=)
|
rs587782178
|
|
NM_000051.4(ATM):c.361T>G (p.Leu121Val)
|
|
|
NM_000051.4(ATM):c.3620A>G (p.Glu1207Gly)
|
rs1555092330
|
|
NM_000051.4(ATM):c.3621A>G (p.Glu1207=)
|
rs2135687824
|
|
NM_000051.4(ATM):c.3622G>A (p.Asp1208Asn)
|
|
|
NM_000051.4(ATM):c.3623A>G (p.Asp1208Gly)
|
rs2135687915
|
|
NM_000051.4(ATM):c.3623dup (p.Asp1208fs)
|
|
|
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)
|
|
|
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
|
|
|
NM_000051.4(ATM):c.3625T>A (p.Phe1209Ile)
|
rs1555092334
|
|
NM_000051.4(ATM):c.3625T>G (p.Phe1209Val)
|
|
|
NM_000051.4(ATM):c.3625_3626insCTCA (p.Phe1209fs)
|
rs2135688037
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3626_3628delinsCTCATTAGAGAGTCTCATTAGATTATC (p.Phe1209_Met1210delinsSerHisTer)
|
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3628A>C (p.Met1210Leu)
|
|
|
NM_000051.4(ATM):c.3628A>T (p.Met1210Leu)
|
|
|
NM_000051.4(ATM):c.3629T>C (p.Met1210Thr)
|
rs192572042
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
NM_000051.4(ATM):c.3630G>T (p.Met1210Ile)
|
rs587778073
|
|
NM_000051.4(ATM):c.3630_3631delinsTT (p.Met1210_Ala1211delinsIleSer)
|
rs1555092353
|
|
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr)
|
rs745467552
|
|
NM_000051.4(ATM):c.3631G>T (p.Ala1211Ser)
|
rs745467552
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)
|
|
|
NM_000051.4(ATM):c.3633A>G (p.Ala1211=)
|
rs2135688329
|
|
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.3636T>C (p.Ser1212=)
|
rs2135688431
|
|
NM_000051.4(ATM):c.3637C>T (p.His1213Tyr)
|
rs1064793387
|
|
NM_000051.4(ATM):c.3639T>G (p.His1213Gln)
|
rs142766756
|
|
NM_000051.4(ATM):c.3640T>G (p.Leu1214Val)
|
rs2082299514
|
|
NM_000051.4(ATM):c.3643G>C (p.Asp1215His)
|
rs1366216756
|
|
NM_000051.4(ATM):c.3646T>G (p.Tyr1216Asp)
|
|
|
NM_000051.4(ATM):c.3646del (p.Tyr1216fs)
|
|
|
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys)
|
rs1565444784
|
|
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter)
|
rs1591641318
|
|
NM_000051.4(ATM):c.3648del (p.Leu1217fs)
|
rs2135688794
|
|
NM_000051.4(ATM):c.3649C>T (p.Leu1217=)
|
|
|
NM_000051.4(ATM):c.364A>G (p.Asn122Asp)
|
rs2079236749
|
|
NM_000051.4(ATM):c.364_368del (p.Asn122fs)
|
rs1555059095
|
|
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln)
|
rs1555092405
|
|
NM_000051.4(ATM):c.3650T>C (p.Leu1217Pro)
|
rs1555092405
|
|
NM_000051.4(ATM):c.3651G>C (p.Leu1217=)
|
|
|
NM_000051.4(ATM):c.3652G>T (p.Val1218Phe)
|
rs2082300484
|
|
NM_000051.4(ATM):c.3654T>A (p.Val1218=)
|
rs2135688939
|
|
NM_000051.4(ATM):c.3656del (p.Leu1219fs)
|
|
|
NM_000051.4(ATM):c.3657G>C (p.Leu1219Phe)
|
rs901820882
|
|
NM_000051.4(ATM):c.3658G>A (p.Glu1220Lys)
|
rs1565444811
|
|
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln)
|
rs1565444811
|
|
NM_000051.4(ATM):c.3659A>G (p.Glu1220Gly)
|
|
|
NM_000051.4(ATM):c.365A>C (p.Asn122Thr)
|
rs1060501596
|
|
NM_000051.4(ATM):c.365A>G (p.Asn122Ser)
|
rs1060501596
|
|
NM_000051.4(ATM):c.365del (p.Asn122fs)
|
|
|
NM_000051.4(ATM):c.3660A>G (p.Glu1220=)
|
rs876660835
|
|
NM_000051.4(ATM):c.3661T>A (p.Trp1221Arg)
|
rs1565444832
|
|
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg)
|
rs1565444832
|
|
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter)
|
rs2135689111
|
|
NM_000051.4(ATM):c.3662G>C (p.Trp1221Ser)
|
|
|
NM_000051.4(ATM):c.3663G>T (p.Trp1221Cys)
|
rs864622490
|
|
NM_000051.4(ATM):c.3664_3666delinsAT (p.Leu1222fs)
|
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
NM_000051.4(ATM):c.3665T>G (p.Leu1222Arg)
|
rs863224563
|
|
NM_000051.4(ATM):c.3666A>G (p.Leu1222=)
|
|
|
NM_000051.4(ATM):c.3667A>C (p.Asn1223His)
|
rs1436681116
|
|
NM_000051.4(ATM):c.3667A>T (p.Asn1223Tyr)
|
rs1436681116
|
|
NM_000051.4(ATM):c.3668A>G (p.Asn1223Ser)
|
rs2082301149
|
|
NM_000051.4(ATM):c.3668A>T (p.Asn1223Ile)
|
|
|
NM_000051.4(ATM):c.3669T>A (p.Asn1223Lys)
|
rs1591641397
|
|
NM_000051.4(ATM):c.3669T>C (p.Asn1223=)
|
rs1591641397
|
|
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter)
|
rs2082301397
|
|
NM_000051.4(ATM):c.3672T>C (p.Leu1224=)
|
|
|
NM_000051.4(ATM):c.3672T>G (p.Leu1224=)
|
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.3674A>G (p.Gln1225Arg)
|
rs2135689501
|
|
NM_000051.4(ATM):c.3675A>C (p.Gln1225His)
|
|
|
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis)
|
rs1064795822
|
|
NM_000051.4(ATM):c.3676G>A (p.Asp1226Asn)
|
|
|
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3678T>C (p.Asp1226=)
|
rs1591641476
|
|
NM_000051.4(ATM):c.3680C>A (p.Thr1227Asn)
|
rs1229454563
|
|
NM_000051.4(ATM):c.3680C>G (p.Thr1227Ser)
|
|
|
NM_000051.4(ATM):c.3680C>T (p.Thr1227Ile)
|
rs1229454563
|
|
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs)
|
rs2082302853
|
|
NM_000051.4(ATM):c.3681T>C (p.Thr1227=)
|
rs1388109606
|
|
NM_000051.4(ATM):c.3681_3687del (p.Glu1228fs)
|
rs1591641462
|
|
NM_000051.4(ATM):c.3682G>A (p.Glu1228Lys)
|
rs1334793787
|
|
NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter)
|
rs1334793787
|
|
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys)
|
rs1591641518
|
|
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)
|
rs2082303743
|
|
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=)
|
rs2082303743
|
|
NM_000051.4(ATM):c.3688A>G (p.Asn1230Asp)
|
rs2082303886
|
|
NM_000051.4(ATM):c.3688A>T (p.Asn1230Tyr)
|
rs2082303886
|
|
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile)
|
rs587782195
|
|
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys)
|
rs759673348
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
NM_000051.4(ATM):c.3690C>G (p.Asn1230Lys)
|
rs1555092475
|
|
NM_000051.4(ATM):c.3690C>T (p.Asn1230=)
|
rs1555092475
|
|
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)
|
rs1210990672
|
|
NM_000051.4(ATM):c.3691T>G (p.Leu1231Val)
|
|
|
NM_000051.4(ATM):c.3691_3692del (p.Leu1231fs)
|
|
|
NM_000051.4(ATM):c.3692_3716del (p.Asn1230_Leu1231insTer)
|
rs2082304563
|
|
NM_000051.4(ATM):c.3693A>T (p.Leu1231Phe)
|
rs1372849076
|
|
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)
|
rs1555092477
|
|
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
|
|
|
NM_000051.4(ATM):c.3694T>G (p.Ser1232Ala)
|
rs183532834
|
|
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys)
|
rs367603277
|
|
NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe)
|
rs367603277
|
|
NM_000051.4(ATM):c.3695CTT[1] (p.Ser1233del)
|
rs1555092499
|
|
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)
|
|
|
NM_000051.4(ATM):c.3698C>A (p.Ser1233Tyr)
|
|
|
NM_000051.4(ATM):c.3698C>T (p.Ser1233Phe)
|
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
NM_000051.4(ATM):c.36C>A (p.Cys12Ter)
|
|
|
NM_000051.4(ATM):c.36C>T (p.Cys12=)
|
rs2135005147
|
|
NM_000051.4(ATM):c.3702T>C (p.Phe1234=)
|
|
|
NM_000051.4(ATM):c.3702T>G (p.Phe1234Leu)
|
rs876659605
|
|
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del)
|
rs1591641635
|
|
NM_000051.4(ATM):c.3704C>T (p.Pro1235Leu)
|
|
|
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs)
|
rs2135690451
|
|
NM_000051.4(ATM):c.3704del (p.Pro1235fs)
|
rs876658455
|
|
NM_000051.4(ATM):c.3707T>C (p.Phe1236Ser)
|
rs2082306350
|
|
NM_000051.4(ATM):c.3707T>G (p.Phe1236Cys)
|
|
|
NM_000051.4(ATM):c.3708T>C (p.Phe1236=)
|
|
|
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.3713T>C (p.Leu1238Ser)
|
|
|
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)
|
|
|
NM_000051.4(ATM):c.3714A>T (p.Leu1238Phe)
|
rs2082306739
|
|
NM_000051.4(ATM):c.3716T>G (p.Leu1239Ter)
|
|
|
NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT (p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer)
|
rs2135690630
|
|
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)
|
|
|
NM_000051.4(ATM):c.3719A>G (p.Asn1240Ser)
|
rs1555092536
|
|
NM_000051.4(ATM):c.371T>C (p.Ile124Thr)
|
rs1555059132
|
|
NM_000051.4(ATM):c.3721_3722del (p.Tyr1241fs)
|
rs2135690723
|
|
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del)
|
rs1555092538
|
|
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys)
|
rs587782688
|
|
NM_000051.4(ATM):c.3722A>T (p.Tyr1241Phe)
|
rs587782688
|
|
NM_000051.4(ATM):c.3723del (p.Asn1240_Tyr1241insTer)
|
|
|
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala)
|
rs1591641743
|
|
NM_000051.4(ATM):c.3725C>A (p.Thr1242Lys)
|
rs1266811647
|
|
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg)
|
rs1266811647
|
|
NM_000051.4(ATM):c.3728A>C (p.Asn1243Thr)
|
rs730881363
|
|
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile)
|
rs730881363
|
|
NM_000051.4(ATM):c.3728dup (p.Asn1243fs)
|
|
|
NM_000051.4(ATM):c.372C>T (p.Ile124=)
|
rs773495195
|
|
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val)
|
rs2135690906
|
|
NM_000051.4(ATM):c.3731T>C (p.Ile1244Thr)
|
rs1159658224
|
|
NM_000051.4(ATM):c.3732T>A (p.Ile1244=)
|
|
|
NM_000051.4(ATM):c.3732T>C (p.Ile1244=)
|
rs2135690957
|
|
NM_000051.4(ATM):c.3732del (p.Ile1244fs)
|
|
|
NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter)
|
rs2082308153
|
|
NM_000051.4(ATM):c.3735G>A (p.Glu1245=)
|
rs1565445196
|
|
NM_000051.4(ATM):c.3735_3742dup (p.Tyr1248fs)
|
|
|
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile)
|
rs886506379
|
|
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser)
|
rs1064793581
|
|
NM_000051.4(ATM):c.3741C>G (p.Phe1247Leu)
|
|
|
NM_000051.4(ATM):c.3741C>T (p.Phe1247=)
|
rs780396420
|
|
NM_000051.4(ATM):c.3742T>C (p.Tyr1248His)
|
rs1180341161
|
|
NM_000051.4(ATM):c.3743A>C (p.Tyr1248Ser)
|
rs766226370
|
|
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe)
|
rs766226370
|
|
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)
|
rs1555092589
|
|
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
|
|
|
NM_000051.4(ATM):c.3746+10T>C
|
|
|
NM_000051.4(ATM):c.3746+11A>G
|
rs2082309757
|
|
NM_000051.4(ATM):c.3746+13A>G
|
rs777055245
|
|
NM_000051.4(ATM):c.3746+15_3746+19del
|
|
|
NM_000051.4(ATM):c.3746+16A>G
|
|
|
NM_000051.4(ATM):c.3746+17C>G
|
rs1057520850
|
|
NM_000051.4(ATM):c.3746+18A>G
|
rs2082310429
|
|
NM_000051.4(ATM):c.3746+18A>T
|
|
|
NM_000051.4(ATM):c.3746+19T>A
|
|
|
NM_000051.4(ATM):c.3746+19T>C
|
|
|
NM_000051.4(ATM):c.3746+1G>A
|
rs2082309297
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3746+20A>G
|
rs1555092607
|
|
NM_000051.4(ATM):c.3746+20_3746+21del
|
rs2135691794
|
|
NM_000051.4(ATM):c.3746+3A>C
|
|
|
NM_000051.4(ATM):c.3746+3A>G
|
rs2135691310
|
|
NM_000051.4(ATM):c.3746+3A>T
|
|
|
NM_000051.4(ATM):c.3746+452_4363del
|
|
|
NM_000051.4(ATM):c.3746+4A>C
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746+4A>G
|
rs1555092593
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
NM_000051.4(ATM):c.3746+5G>C
|
|
|
NM_000051.4(ATM):c.3746+7T>G
|
|
|
NM_000051.4(ATM):c.3746+8T>G
|
|
|
NM_000051.4(ATM):c.3746+9A>G
|
|
|
NM_000051.4(ATM):c.3746G>A (p.Arg1249Lys)
|
|
|
NM_000051.4(ATM):c.3746G>C (p.Arg1249Thr)
|
|
|
NM_000051.4(ATM):c.3747-10C>A
|
|
|
NM_000051.4(ATM):c.3747-10C>G
|
rs775274473
|
|
NM_000051.4(ATM):c.3747-10C>T
|
|
|
NM_000051.4(ATM):c.3747-11T>C
|
rs2135703873
|
|
NM_000051.4(ATM):c.3747-11del
|
|
|
NM_000051.4(ATM):c.3747-14T>G
|
rs2082371250
|
|
NM_000051.4(ATM):c.3747-15T>C
|
|
|
NM_000051.4(ATM):c.3747-16A>T
|
|
|
NM_000051.4(ATM):c.3747-173T>C
|
rs373028945
|
|
NM_000051.4(ATM):c.3747-19T>C
|
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>T
|
|
|
NM_000051.4(ATM):c.3747-28C>A
|
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
NM_000051.4(ATM):c.3747-304G>A
|
rs4987991
|
|
NM_000051.4(ATM):c.3747-304G>T
|
rs4987991
|
|
NM_000051.4(ATM):c.3747-3_3751del
|
rs1555093256
|
|
NM_000051.4(ATM):c.3747-3dup
|
rs2135703985
|
|
NM_000051.4(ATM):c.3747-43A>T
|
|
|
NM_000051.4(ATM):c.3747-4T>C
|
|
|
NM_000051.4(ATM):c.3747-7T>C
|
rs1057523136
|
|
NM_000051.4(ATM):c.3747-7T>G
|
rs1057523136
|
|
NM_000051.4(ATM):c.3747A>C (p.Arg1249Ser)
|
|
|
NM_000051.4(ATM):c.3748T>A (p.Ser1250Thr)
|
rs1555093268
|
|
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro)
|
rs1555093268
|
|
NM_000051.4(ATM):c.3749C>A (p.Ser1250Tyr)
|
rs1555093273
|
|
NM_000051.4(ATM):c.3749C>T (p.Ser1250Phe)
|
|
|
NM_000051.4(ATM):c.374T>C (p.Met125Thr)
|
rs2079237952
|
|
NM_000051.4(ATM):c.3750T>C (p.Ser1250=)
|
rs2135704195
|
|
NM_000051.4(ATM):c.3751T>C (p.Cys1251Arg)
|
rs763730862
|
|
NM_000051.4(ATM):c.3752G>A (p.Cys1251Tyr)
|
rs1427548500
|
|
NM_000051.4(ATM):c.3752G>T (p.Cys1251Phe)
|
rs1427548500
|
|
NM_000051.4(ATM):c.3753T>C (p.Cys1251=)
|
rs2135704274
|
|
NM_000051.4(ATM):c.3754T>C (p.Tyr1252His)
|
rs2135704307
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3755A>C (p.Tyr1252Ser)
|
|
|
NM_000051.4(ATM):c.3755A>G (p.Tyr1252Cys)
|
|
|
NM_000051.4(ATM):c.3755A>T (p.Tyr1252Phe)
|
rs2135704378
|
|
NM_000051.4(ATM):c.3755dup (p.Tyr1252Ter)
|
rs1591645340
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.3756T>G (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)
|
rs1555093289
|
|
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer)
|
rs2135704461
|
|
NM_000051.4(ATM):c.3758A>C (p.Lys1253Thr)
|
|
|
NM_000051.4(ATM):c.3758A>G (p.Lys1253Arg)
|
|
|
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)
|
rs2135704536
|
|
NM_000051.4(ATM):c.3759G>A (p.Lys1253=)
|
|
|
NM_000051.4(ATM):c.375G>A (p.Met125Ile)
|
rs1591474725
|
|
NM_000051.4(ATM):c.375G>T (p.Met125Ile)
|
|
|
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile)
|
rs753717865
|
|
NM_000051.4(ATM):c.3760del (p.Val1254fs)
|
rs786203507
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3764T>C (p.Leu1255Ser)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe)
|
rs1030517820
|
|
NM_000051.4(ATM):c.3767T>G (p.Ile1256Ser)
|
|
|
NM_000051.4(ATM):c.3768T>A (p.Ile1256=)
|
rs765538231
|
|
NM_000051.4(ATM):c.3769C>G (p.Pro1257Ala)
|
rs1565447002
|
|
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr)
|
rs2079238248
|
|
NM_000051.4(ATM):c.376_382del (p.Met125_Asp126insTer)
|
rs1591474736
|
|
NM_000051.4(ATM):c.3770C>A (p.Pro1257Gln)
|
|
|
NM_000051.4(ATM):c.3770C>T (p.Pro1257Leu)
|
rs758405529
|
|
NM_000051.4(ATM):c.3771A>G (p.Pro1257=)
|
rs1057523320
|
|
NM_000051.4(ATM):c.3771A>T (p.Pro1257=)
|
|
|
NM_000051.4(ATM):c.3771dup (p.His1258fs)
|
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
NM_000051.4(ATM):c.3772C>T (p.His1258Tyr)
|
rs587782741
|
|
NM_000051.4(ATM):c.3773A>G (p.His1258Arg)
|
rs1555093334
|
|
NM_000051.4(ATM):c.3774T>A (p.His1258Gln)
|
rs786203114
|
|
NM_000051.4(ATM):c.3775C>T (p.Leu1259=)
|
|
|
NM_000051.4(ATM):c.3777G>C (p.Leu1259=)
|
|
|
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)
|
rs587782035
|
|
NM_000051.4(ATM):c.3778del (p.Leu1259_Val1260insTer)
|
rs2082375273
|
|
NM_000051.4(ATM):c.3779T>A (p.Val1260Glu)
|
|
|
NM_000051.4(ATM):c.377A>C (p.Asp126Ala)
|
|
|
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)
|
|
|
NM_000051.4(ATM):c.3780G>A (p.Val1260=)
|
rs2135705020
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
NM_000051.4(ATM):c.3782T>G (p.Ile1261Ser)
|
|
|
NM_000051.4(ATM):c.3783T>C (p.Ile1261=)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3783del (p.Arg1262fs)
|
rs2082375533
|
|
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly)
|
rs1591645509
|
|
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter)
|
rs1591645509
|
|
NM_000051.4(ATM):c.3785G>A (p.Arg1262Lys)
|
rs786203618
|
|
NM_000051.4(ATM):c.3785G>C (p.Arg1262Thr)
|
rs786203618
|
|
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)
|
rs786203618
|
|
NM_000051.4(ATM):c.3786A>G (p.Arg1262=)
|
rs2135705167
|
|
NM_000051.4(ATM):c.3787A>G (p.Ser1263Gly)
|
rs1276194109
|
|
NM_000051.4(ATM):c.3788G>T (p.Ser1263Ile)
|
rs2082376058
|
|
NM_000051.4(ATM):c.3789T>C (p.Ser1263=)
|
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3790C>A (p.His1264Asn)
|
rs2135705273
|
|
NM_000051.4(ATM):c.3790C>T (p.His1264Tyr)
|
|
|
NM_000051.4(ATM):c.3791A>C (p.His1264Pro)
|
|
|
NM_000051.4(ATM):c.3792T>C (p.His1264=)
|
rs2135705306
|
|
NM_000051.4(ATM):c.3793T>G (p.Phe1265Val)
|
rs371526361
|
|
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser)
|
rs1565447114
|
|
NM_000051.4(ATM):c.3795T>G (p.Phe1265Leu)
|
|
|
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn)
|
rs2135705400
|
|
NM_000051.4(ATM):c.3796G>C (p.Asp1266His)
|
rs2135705400
|
|
NM_000051.4(ATM):c.3797A>G (p.Asp1266Gly)
|
|
|
NM_000051.4(ATM):c.379A>G (p.Thr127Ala)
|
rs587781741
|
|
NM_000051.4(ATM):c.37C>A (p.Arg13Ser)
|
rs141586345
|
|
NM_000051.4(ATM):c.37C>G (p.Arg13Gly)
|
rs141586345
|
|
NM_000051.4(ATM):c.3800A>T (p.Glu1267Val)
|
rs781357995
|
|
NM_000051.4(ATM):c.3801G>C (p.Glu1267Asp)
|
|
|
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.3807G>A (p.Lys1269=)
|
rs2135705663
|
|
NM_000051.4(ATM):c.380C>T (p.Thr127Ile)
|
rs2079238567
|
|
NM_000051.4(ATM):c.3810C>A (p.Ser1270=)
|
rs2135705736
|
|
NM_000051.4(ATM):c.3810C>T (p.Ser1270=)
|
rs2135705736
|
|
NM_000051.4(ATM):c.3811A>G (p.Ile1271Val)
|
rs1555093407
|
|
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr)
|
rs1308232635
|
|
NM_000051.4(ATM):c.3812T>G (p.Ile1271Ser)
|
rs1308232635
|
|
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)
|
rs1057522326
|
|
NM_000051.4(ATM):c.3813del (p.Ile1271fs)
|
|
|
NM_000051.4(ATM):c.3814G>A (p.Ala1272Thr)
|
rs1555093420
|
|
NM_000051.4(ATM):c.3815C>A (p.Ala1272Asp)
|
rs2082377659
|
|
NM_000051.4(ATM):c.3816T>C (p.Ala1272=)
|
|
|
NM_000051.4(ATM):c.381A>C (p.Thr127=)
|
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3820C>G (p.Gln1274Glu)
|
|
|
NM_000051.4(ATM):c.3821A>G (p.Gln1274Arg)
|
rs1060501624
|
|
NM_000051.4(ATM):c.3821_3822delinsTA (p.Gln1274Leu)
|
rs1591645650
|
|
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)
|
|
|
NM_000051.4(ATM):c.3824T>C (p.Ile1275Thr)
|
|
|
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
|
|
|
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro)
|
rs770183693
|
|
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg)
|
rs770183693
|
|
NM_000051.4(ATM):c.3828A>G (p.Gln1276=)
|
rs1318728821
|
|
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln)
|
rs1591645689
|
|
NM_000051.4(ATM):c.3829G>T (p.Glu1277Ter)
|
|
|
NM_000051.4(ATM):c.382G>A (p.Val128Met)
|
rs587779835
|
|
NM_000051.4(ATM):c.382G>C (p.Val128Leu)
|
rs587779835
|
|
NM_000051.4(ATM):c.382G>T (p.Val128Leu)
|
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly)
|
rs1555093463
|
|
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)
|
rs587781787
|
|
NM_000051.4(ATM):c.3832G>C (p.Asp1278His)
|
rs730881365
|
|
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)
|
rs534864280
|
|
NM_000051.4(ATM):c.3834C>T (p.Asp1278=)
|
|
|
NM_000051.4(ATM):c.3835T>C (p.Trp1279Arg)
|
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg)
|
rs2082379727
|
|
NM_000051.4(ATM):c.3840A>G (p.Lys1280=)
|
rs2135706465
|
|
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
|
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn)
|
rs1064797161
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
NM_000051.4(ATM):c.3843TCT[1] (p.Leu1283del)
|
|
|
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)
|
rs876660568
|
|
NM_000051.4(ATM):c.3844C>G (p.Leu1282Val)
|
rs876660568
|
|
NM_000051.4(ATM):c.3845T>C (p.Leu1282Pro)
|
rs1591645828
|
|
NM_000051.4(ATM):c.3845T>G (p.Leu1282Arg)
|
rs1591645828
|
|
NM_000051.4(ATM):c.3846T>C (p.Leu1282=)
|
rs2135706640
|
|
NM_000051.4(ATM):c.3847C>T (p.Leu1283=)
|
|
|
NM_000051.4(ATM):c.3849A>G (p.Leu1283=)
|
rs1591645848
|
|
NM_000051.4(ATM):c.384G>A (p.Val128=)
|
rs1555059177
|
|
NM_000051.4(ATM):c.384G>C (p.Val128=)
|
rs1555059177
|
|
NM_000051.4(ATM):c.3850A>G (p.Thr1284Ala)
|
rs879175186
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg)
|
rs1200767902
|
|
NM_000051.4(ATM):c.3851C>T (p.Thr1284Ile)
|
rs1200767902
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
NM_000051.4(ATM):c.3853_3854delinsAT (p.Asp1285Ile)
|
|
|
NM_000051.4(ATM):c.3854A>G (p.Asp1285Gly)
|
rs2082381245
|
|
NM_000051.4(ATM):c.3856T>C (p.Cys1286Arg)
|
rs2082381435
|
|
NM_000051.4(ATM):c.3857G>A (p.Cys1286Tyr)
|
rs876660770
|
|
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser)
|
rs876660770
|
|
NM_000051.4(ATM):c.3858C>A (p.Cys1286Ter)
|
rs2082381612
|
|
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
|
|
|
NM_000051.4(ATM):c.385A>C (p.Lys129Gln)
|
rs2079239070
|
|
NM_000051.4(ATM):c.3863C>T (p.Pro1288Leu)
|
rs2135707043
|
|
NM_000051.4(ATM):c.3865A>C (p.Lys1289Gln)
|
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg)
|
rs876660633
|
|
NM_000051.4(ATM):c.3866del (p.Lys1289fs)
|
|
|
NM_000051.4(ATM):c.3868A>C (p.Ile1290Leu)
|
|
|
NM_000051.4(ATM):c.3868A>T (p.Ile1290Phe)
|
rs2082381917
|
|
NM_000051.4(ATM):c.3868_3884del (p.Ile1290fs)
|
rs2082382004
|
|
NM_000051.4(ATM):c.3869T>G (p.Ile1290Ser)
|
|
|
NM_000051.4(ATM):c.386A>G (p.Lys129Arg)
|
rs2135122598
|
|
NM_000051.4(ATM):c.3871C>G (p.Leu1291Val)
|
rs2135707210
|
|
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro)
|
rs1555093536
|
|
NM_000051.4(ATM):c.3872T>G (p.Leu1291Arg)
|
rs1555093536
|
|
NM_000051.4(ATM):c.3873T>G (p.Leu1291=)
|
rs1565447438
|
|
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu)
|
rs878853506
|
|
NM_000051.4(ATM):c.3875T>A (p.Val1292Glu)
|
|
|
NM_000051.4(ATM):c.3875T>C (p.Val1292Ala)
|
rs1555093556
|
|
NM_000051.4(ATM):c.3876A>T (p.Val1292=)
|
|
|
NM_000051.4(ATM):c.3877A>C (p.Asn1293His)
|
rs2135707323
|
|
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)
|
rs2082382534
|
|
NM_000051.4(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup)
|
rs1591645970
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.387dup (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val)
|
rs1478504213
|
|
NM_000051.4(ATM):c.3880A>T (p.Ile1294Phe)
|
rs1478504213
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3882T>C (p.Ile1294=)
|
rs1167387894
|
|
NM_000051.4(ATM):c.3883C>G (p.Leu1295Val)
|
rs1388457632
|
|
NM_000051.4(ATM):c.3884T>C (p.Leu1295Pro)
|
rs2082382999
|
|
NM_000051.4(ATM):c.3886C>G (p.Pro1296Ala)
|
rs864622654
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3886_3888delinsACA (p.Pro1296Thr)
|
rs876660859
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
|
|
NM_000051.4(ATM):c.3887C>T (p.Pro1296Leu)
|
|
|
NM_000051.4(ATM):c.3888T>C (p.Pro1296=)
|
rs1555093582
|
|
NM_000051.4(ATM):c.3890A>G (p.Tyr1297Cys)
|
rs1591646047
|
|
NM_000051.4(ATM):c.3891T>A (p.Tyr1297Ter)
|
|
|
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=)
|
rs2135707669
|
|
NM_000051.4(ATM):c.3891T>G (p.Tyr1297Ter)
|
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.3895del (p.Ala1299fs)
|
rs786203501
|
|
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val)
|
rs786203287
|
|
NM_000051.4(ATM):c.3897C>A (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3897C>G (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)
|
rs760491475
|
|
NM_000051.4(ATM):c.3898T>A (p.Tyr1300Asn)
|
|
|
NM_000051.4(ATM):c.3898T>C (p.Tyr1300His)
|
rs1591646097
|
|
NM_000051.4(ATM):c.3899A>T (p.Tyr1300Phe)
|
rs183263185
|
|
NM_000051.4(ATM):c.38G>T (p.Arg13Leu)
|
rs778201041
|
|
NM_000051.4(ATM):c.3900T>G (p.Tyr1300Ter)
|
|
|
NM_000051.4(ATM):c.3901G>A (p.Glu1301Lys)
|
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
NM_000051.4(ATM):c.3903G>C (p.Glu1301Asp)
|
rs2082384273
|
|
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser)
|
rs2135707999
|
|
NM_000051.4(ATM):c.3904G>T (p.Gly1302Cys)
|
|
|
NM_000051.4(ATM):c.3905G>A (p.Gly1302Asp)
|
|
|
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val)
|
rs761673223
|
|
NM_000051.4(ATM):c.3906T>C (p.Gly1302=)
|
rs1565447594
|
|
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala)
|
rs1060501662
|
|
NM_000051.4(ATM):c.3907_3925del (p.Thr1303fs)
|
|
|
NM_000051.4(ATM):c.3908C>A (p.Thr1303Asn)
|
|
|
NM_000051.4(ATM):c.3908C>G (p.Thr1303Ser)
|
|
|
NM_000051.4(ATM):c.3908C>T (p.Thr1303Ile)
|
|
|
NM_000051.4(ATM):c.3908_3910del (p.Thr1303del)
|
|
|
NM_000051.4(ATM):c.3909C>T (p.Thr1303=)
|
rs1555093618
|
|
NM_000051.4(ATM):c.390T>A (p.Asp130Glu)
|
rs1565356801
|
|
NM_000051.4(ATM):c.390T>C (p.Asp130=)
|
rs1565356801
|
|
NM_000051.4(ATM):c.390T>G (p.Asp130Glu)
|
rs1565356801
|
|
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly)
|
rs1565447611
|
|
NM_000051.4(ATM):c.3912A>G (p.Arg1304=)
|
|
|
NM_000051.4(ATM):c.3915C>G (p.Asp1305Glu)
|
rs1429663437
|
|
NM_000051.4(ATM):c.3915C>T (p.Asp1305=)
|
rs1429663437
|
|
NM_000051.4(ATM):c.3916A>G (p.Ser1306Gly)
|
|
|
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs)
|
rs2135708324
|
|
NM_000051.4(ATM):c.3917G>A (p.Ser1306Asn)
|
|
|
NM_000051.4(ATM):c.3917G>C (p.Ser1306Thr)
|
rs1555093629
|
|
NM_000051.4(ATM):c.3918T>A (p.Ser1306Arg)
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
NM_000051.4(ATM):c.391T>C (p.Ser131Pro)
|
rs876658263
|
|
NM_000051.4(ATM):c.391dup (p.Ser131fs)
|
rs2079239543
|
|
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu)
|
rs2082385270
|
|
NM_000051.4(ATM):c.3921del (p.Met1308fs)
|
|
|
NM_000051.4(ATM):c.3922A>T (p.Met1308Leu)
|
rs2135708488
|
|
NM_000051.4(ATM):c.3923T>C (p.Met1308Thr)
|
rs1555093651
|
|
NM_000051.4(ATM):c.3925G>C (p.Ala1309Pro)
|
rs149711770
|
|
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
|
|
|
NM_000051.4(ATM):c.3926_3929dup (p.Gln1310fs)
|
rs1555093659
|
|
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)
|
rs1555093665
|
|
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
|
|
|
NM_000051.4(ATM):c.3929A>G (p.Gln1310Arg)
|
|
|
NM_000051.4(ATM):c.392C>A (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.392C>T (p.Ser131Leu)
|
|
|
NM_000051.4(ATM):c.3930G>A (p.Gln1310=)
|
|
|
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)
|
rs200976093
|
|
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro)
|
rs2135708785
|
|
NM_000051.4(ATM):c.3932A>G (p.Gln1311Arg)
|
|
|
NM_000051.4(ATM):c.3933A>G (p.Gln1311=)
|
rs1060504304
|
|
NM_000051.4(ATM):c.3933_3934del (p.Glu1313fs)
|
rs2082385904
|
|
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly)
|
rs864622137
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)
|
|
|
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln)
|
rs3092841
|
|
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
|
|
|
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly)
|
rs1555093695
|
|
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp)
|
rs2082386564
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.393A>G (p.Ser131=)
|
|
|
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile)
|
rs751678973
|
|
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.3944C>T (p.Ala1315Val)
|
|
|
NM_000051.4(ATM):c.3945T>A (p.Ala1315=)
|
rs2135709163
|
|
NM_000051.4(ATM):c.3946A>C (p.Thr1316Pro)
|
|
|
NM_000051.4(ATM):c.3946A>G (p.Thr1316Ala)
|
rs1555093708
|
|
NM_000051.4(ATM):c.3947C>T (p.Thr1316Ile)
|
rs2135709186
|
|
NM_000051.4(ATM):c.3948C>T (p.Thr1316=)
|
rs2135709208
|
|
NM_000051.4(ATM):c.3949A>C (p.Lys1317Gln)
|
rs2082387020
|
|
NM_000051.4(ATM):c.394T>C (p.Ser132Pro)
|
rs786203851
|
|
NM_000051.4(ATM):c.3952G>C (p.Val1318Leu)
|
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly)
|
rs1565447790
|
|
NM_000051.4(ATM):c.3954C>G (p.Val1318=)
|
rs2082387502
|
|
NM_000051.4(ATM):c.3954C>T (p.Val1318=)
|
|
|
NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer)
|
rs1591646379
|
|
NM_000051.4(ATM):c.3958_3960del (p.Asp1320del)
|
|
|
NM_000051.4(ATM):c.3959A>G (p.Asp1320Gly)
|
|
|
NM_000051.4(ATM):c.3959A>T (p.Asp1320Val)
|
rs2135709499
|
|
NM_000051.4(ATM):c.395C>A (p.Ser132Tyr)
|
rs750969764
|
|
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)
|
rs750969764
|
|
NM_000051.4(ATM):c.3960T>C (p.Asp1320=)
|
rs995275833
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
NM_000051.4(ATM):c.3961dup (p.Met1321fs)
|
rs1591646429
|
|
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr)
|
rs928038643
|
|
NM_000051.4(ATM):c.3963G>T (p.Met1321Ile)
|
rs35184530
|
|
NM_000051.4(ATM):c.3963_3964delinsAA (p.Met1321_Leu1322delinsIleIle)
|
|
|
NM_000051.4(ATM):c.3964C>G (p.Leu1322Val)
|
|
|
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe)
|
rs144535256
|
|
NM_000051.4(ATM):c.3964dup (p.Leu1322fs)
|
rs2135709622
|
|
NM_000051.4(ATM):c.3965T>A (p.Leu1322His)
|
rs786203306
|
|
NM_000051.4(ATM):c.3965T>G (p.Leu1322Arg)
|
rs786203306
|
|
NM_000051.4(ATM):c.3967A>G (p.Lys1323Glu)
|
rs1341465811
|
|
NM_000051.4(ATM):c.3968A>G (p.Lys1323Arg)
|
rs1295515377
|
|
NM_000051.4(ATM):c.3970A>C (p.Ser1324Arg)
|
rs2082388757
|
|
NM_000051.4(ATM):c.3971G>A (p.Ser1324Asn)
|
|
|
NM_000051.4(ATM):c.3972T>A (p.Ser1324Arg)
|
rs1165340615
|
|
NM_000051.4(ATM):c.3972T>C (p.Ser1324=)
|
|
|
NM_000051.4(ATM):c.3973G>T (p.Glu1325Ter)
|
|
|
NM_000051.4(ATM):c.3976A>G (p.Asn1326Asp)
|
|
|
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser)
|
rs878853507
|
|
NM_000051.4(ATM):c.3979T>C (p.Leu1327=)
|
rs2135709876
|
|
NM_000051.4(ATM):c.397A>G (p.Asn133Asp)
|
rs1565356855
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3981A>C (p.Leu1327Phe)
|
|
|
NM_000051.4(ATM):c.3981A>G (p.Leu1327=)
|
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
NM_000051.4(ATM):c.3983del (p.Leu1328fs)
|
|
|
NM_000051.4(ATM):c.3984G>A (p.Leu1328=)
|
rs1591646593
|
|
NM_000051.4(ATM):c.3984G>C (p.Leu1328Phe)
|
|
|
NM_000051.4(ATM):c.3987_3993+1del
|
rs2135710049
|
|
NM_000051.4(ATM):c.3989A>G (p.Lys1330Arg)
|
rs1565447970
|
|
NM_000051.4(ATM):c.398A>G (p.Asn133Ser)
|
rs730881330
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
NM_000051.4(ATM):c.3990del (p.Lys1330fs)
|
rs1057517100
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
NM_000051.4(ATM):c.3993+10C>T
|
rs587782262
|
|
NM_000051.4(ATM):c.3993+12A>G
|
rs1057520703
|
|
NM_000051.4(ATM):c.3993+12A>T
|
|
|
NM_000051.4(ATM):c.3993+16T>G
|
rs2135710569
|
|
NM_000051.4(ATM):c.3993+19T>C
|
|
|
NM_000051.4(ATM):c.3993+19T>G
|
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3993+20G>A
|
|
|
NM_000051.4(ATM):c.3993+2T>A
|
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
NM_000051.4(ATM):c.3993+3A>T
|
|
|
NM_000051.4(ATM):c.3993+40G>T
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
NM_000051.4(ATM):c.3993+5G>A
|
rs3092842
|
|
NM_000051.4(ATM):c.3993+6G>A
|
rs878853508
|
|
NM_000051.4(ATM):c.3993+6G>C
|
|
|
NM_000051.4(ATM):c.3993+6G>T
|
rs878853508
|
|
NM_000051.4(ATM):c.3993+9T>C
|
rs2135710402
|
|
NM_000051.4(ATM):c.3993G>A (p.Gln1331=)
|
rs863224566
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
NM_000051.4(ATM):c.3994-10G>C
|
rs186589241
|
|
NM_000051.4(ATM):c.3994-11T>G
|
|
|
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.3994-14T>A
|
|
|
NM_000051.4(ATM):c.3994-14T>G
|
rs1255634399
|
|
NM_000051.4(ATM):c.3994-157_3994-156del
|
rs1555095694
|
|
NM_000051.4(ATM):c.3994-15T>A
|
rs2135734597
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
NM_000051.4(ATM):c.3994-162G>A
|
|
|
NM_000051.4(ATM):c.3994-16T>A
|
|
|
NM_000051.4(ATM):c.3994-18A>T
|
|
|
NM_000051.4(ATM):c.3994-1G>A
|
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.3994-2A>C
|
rs587782276
|
|
NM_000051.4(ATM):c.3994-2A>T
|
|
|
NM_000051.4(ATM):c.3994-32A>G
|
|
|
NM_000051.4(ATM):c.3994-3C>A
|
rs1060501681
|
|
NM_000051.4(ATM):c.3994-4G>C
|
rs1060504259
|
|
NM_000051.4(ATM):c.3994-8C>T
|
rs2135734775
|
|
NM_000051.4(ATM):c.3994-9C>A
|
rs767111803
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu)
|
rs1064793534
|
|
NM_000051.4(ATM):c.3994A>G (p.Ile1332Val)
|
|
|
NM_000051.4(ATM):c.3994del (p.Ile1332fs)
|
|
|
NM_000051.4(ATM):c.3996T>C (p.Ile1332=)
|
rs1180449859
|
|
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met)
|
rs1180449859
|
|
NM_000051.4(ATM):c.3996del (p.Ile1332fs)
|
rs1555095807
|
|
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn)
|
rs1591655512
|
|
NM_000051.4(ATM):c.3997_3998insCCACCATGCCAGGCTTCTGCGGATGCTTATACGCCTTCAAACCACCGGCCAGCTTGCCCTCCTGCGTGAAGGGAACCGAT (p.Asp1333fs)
|
rs2135735043
|
|
NM_000051.4(ATM):c.3998A>G (p.Asp1333Gly)
|
|
|
NM_000051.4(ATM):c.3999T>C (p.Asp1333=)
|
rs1591655534
|
|
NM_000051.4(ATM):c.399T>A (p.Asn133Lys)
|
rs1555059218
|
|
NM_000051.4(ATM):c.399T>C (p.Asn133=)
|
|
|
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)
|
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
NM_000051.4(ATM):c.4002C>T (p.His1334=)
|
rs876659622
|
|
NM_000051.4(ATM):c.4003T>G (p.Leu1335Val)
|
rs863224568
|
|
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
|
|
|
NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter)
|
rs2082558148
|
|
NM_000051.4(ATM):c.4004dup (p.Leu1335fs)
|
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
NM_000051.4(ATM):c.4006T>G (p.Phe1336Val)
|
|
|
NM_000051.4(ATM):c.4007del (p.Phe1336fs)
|
rs1555095841
|
|
NM_000051.4(ATM):c.4007dup (p.Ile1337fs)
|
rs1555095841
|
|
NM_000051.4(ATM):c.4010T>C (p.Ile1337Thr)
|
rs1060501660
|
|
NM_000051.4(ATM):c.4010T>G (p.Ile1337Ser)
|
rs1060501660
|
|
NM_000051.4(ATM):c.4011del (p.Ser1338fs)
|
rs1591655633
|
|
NM_000051.4(ATM):c.4013G>A (p.Ser1338Asn)
|
rs1302951937
|
|
NM_000051.4(ATM):c.4017T>G (p.Asn1339Lys)
|
rs863224569
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)
|
rs2082559544
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.401G>T (p.Gly134Val)
|
rs771166271
|
|
NM_000051.4(ATM):c.4020A>C (p.Leu1340Phe)
|
|
|
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.4023del (p.Glu1342fs)
|
|
|
NM_000051.4(ATM):c.4024G>A (p.Glu1342Lys)
|
rs1555095899
|
|
NM_000051.4(ATM):c.4028_4034del (p.Ile1343fs)
|
rs2135735834
|
|
NM_000051.4(ATM):c.4029T>C (p.Ile1343=)
|
rs2135735847
|
|
NM_000051.4(ATM):c.402T>C (p.Gly134=)
|
|
|
NM_000051.4(ATM):c.402T>G (p.Gly134=)
|
rs2135123141
|
|
NM_000051.4(ATM):c.4030G>C (p.Val1344Leu)
|
|
|
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu)
|
rs1565452575
|
|
NM_000051.4(ATM):c.4032G>A (p.Val1344=)
|
rs769871715
|
|
NM_000051.4(ATM):c.4033G>A (p.Val1345Met)
|
rs1216931701
|
|
NM_000051.4(ATM):c.4034T>C (p.Val1345Ala)
|
|
|
NM_000051.4(ATM):c.4035G>A (p.Val1345=)
|
rs2135735989
|
|
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)
|
rs1060501528
|
|
NM_000051.4(ATM):c.4038G>A (p.Glu1346=)
|
rs1591655790
|
|
NM_000051.4(ATM):c.4038G>T (p.Glu1346Asp)
|
|
|
NM_000051.4(ATM):c.4038del (p.Glu1346fs)
|
|
|
NM_000051.4(ATM):c.403G>A (p.Ala135Thr)
|
rs1272089657
|
|
NM_000051.4(ATM):c.403G>T (p.Ala135Ser)
|
rs1272089657
|
|
NM_000051.4(ATM):c.403del (p.Ala135fs)
|
rs2135123204
|
|
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)
|
rs1565452621
|
|
NM_000051.4(ATM):c.4044G>C (p.Leu1348Phe)
|
|
|
NM_000051.4(ATM):c.4045A>G (p.Met1349Val)
|
rs2082561329
|
|
NM_000051.4(ATM):c.4046T>A (p.Met1349Lys)
|
rs2082561438
|
|
NM_000051.4(ATM):c.4047G>A (p.Met1349Ile)
|
rs1555095931
|
|
NM_000051.4(ATM):c.4047G>T (p.Met1349Ile)
|
rs1555095931
|
|
NM_000051.4(ATM):c.404C>G (p.Ala135Gly)
|
rs1555059254
|
|
NM_000051.4(ATM):c.404C>T (p.Ala135Val)
|
rs1555059254
|
|
NM_000051.4(ATM):c.4051T>A (p.Leu1351Ile)
|
rs1591655873
|
|
NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter)
|
rs1565452687
|
|
NM_000051.4(ATM):c.4052T>C (p.Leu1351Ser)
|
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
NM_000051.4(ATM):c.4053A>G (p.Leu1351=)
|
rs1565452695
|
|
NM_000051.4(ATM):c.4054C>T (p.His1352Tyr)
|
rs1591655903
|
|
NM_000051.4(ATM):c.4055A>T (p.His1352Leu)
|
rs925124248
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
NM_000051.4(ATM):c.4057G>A (p.Glu1353Lys)
|
rs2135736601
|
|
NM_000051.4(ATM):c.4057G>T (p.Glu1353Ter)
|
|
|
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly)
|
rs917721053
|
|
NM_000051.4(ATM):c.405T>G (p.Ala135=)
|
rs2135123254
|
|
NM_000051.4(ATM):c.4060C>T (p.Pro1354Ser)
|
|
|
NM_000051.4(ATM):c.4061C>A (p.Pro1354Gln)
|
rs1565452743
|
|
NM_000051.4(ATM):c.4062A>C (p.Pro1354=)
|
rs1555095974
|
|
NM_000051.4(ATM):c.4062A>G (p.Pro1354=)
|
|
|
NM_000051.4(ATM):c.4062A>T (p.Pro1354=)
|
rs1555095974
|
|
NM_000051.4(ATM):c.4062del (p.Ala1355fs)
|
rs2135736779
|
|
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu)
|
rs1591655990
|
|
NM_000051.4(ATM):c.4064C>G (p.Ala1355Gly)
|
|
|
NM_000051.4(ATM):c.4064C>T (p.Ala1355Val)
|
rs1591655990
|
|
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)
|
|
|
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr)
|
rs2135736874
|
|
NM_000051.4(ATM):c.4069T>A (p.Ser1357Thr)
|
rs2082563881
|
|
NM_000051.4(ATM):c.406A>G (p.Ile136Val)
|
rs780941782
|
|
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr)
|
rs730881390
|
|
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys)
|
rs730881390
|
|
NM_000051.4(ATM):c.4072A>T (p.Ser1358Cys)
|
|
|
NM_000051.4(ATM):c.4073G>C (p.Ser1358Thr)
|
rs2135737014
|
|
NM_000051.4(ATM):c.4075G>A (p.Ala1359Thr)
|
rs1591656042
|
|
NM_000051.4(ATM):c.4076C>A (p.Ala1359Asp)
|
rs1565452823
|
|
NM_000051.4(ATM):c.4077C>G (p.Ala1359=)
|
rs375606854
|
|
NM_000051.4(ATM):c.4077C>T (p.Ala1359=)
|
|
|
NM_000051.4(ATM):c.4078A>G (p.Ser1360Gly)
|
rs761123780
|
|
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys)
|
rs761123780
|
|
NM_000051.4(ATM):c.4079G>T (p.Ser1360Ile)
|
|
|
NM_000051.4(ATM):c.4080T>G (p.Ser1360Arg)
|
rs2135737207
|
|
NM_000051.4(ATM):c.4080_4083del (p.Ser1360fs)
|
|
|
NM_000051.4(ATM):c.4081C>G (p.Gln1361Glu)
|
rs121434222
|
|
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)
|
rs121434222
|
|
NM_000051.4(ATM):c.4083G>A (p.Gln1361=)
|
rs863224570
|
|
NM_000051.4(ATM):c.4083G>T (p.Gln1361His)
|
rs863224570
|
|
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly)
|
rs1565452907
|
|
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)
|
rs886039488
|
|
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)
|
|
|
NM_000051.4(ATM):c.4085G>C (p.Ser1362Thr)
|
|
|
NM_000051.4(ATM):c.4085G>T (p.Ser1362Ile)
|
rs923836140
|
|
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
|
|
|
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala)
|
rs587779837
|
|
NM_000051.4(ATM):c.4087del (p.Thr1363fs)
|
rs1555096035
|
|
NM_000051.4(ATM):c.4088C>G (p.Thr1363Ser)
|
rs1555096040
|
|
NM_000051.4(ATM):c.4088C>T (p.Thr1363Ile)
|
|
|
NM_000051.4(ATM):c.408T>A (p.Ile136=)
|
rs2135123307
|
|
NM_000051.4(ATM):c.4091A>C (p.Asp1364Ala)
|
rs751169467
|
|
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)
|
rs876660956
|
|
NM_000051.4(ATM):c.4092C>T (p.Asp1364=)
|
rs876660956
|
|
NM_000051.4(ATM):c.4093C>A (p.Leu1365Ile)
|
|
|
NM_000051.4(ATM):c.4093C>T (p.Leu1365Phe)
|
rs1423720712
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
NM_000051.4(ATM):c.4094T>C (p.Leu1365Pro)
|
|
|
NM_000051.4(ATM):c.4095C>A (p.Leu1365=)
|
|
|
NM_000051.4(ATM):c.4095C>G (p.Leu1365=)
|
rs2135737731
|
|
NM_000051.4(ATM):c.4095C>T (p.Leu1365=)
|
rs2135737731
|
|
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4095_4096dup (p.Cys1366fs)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4099G>T (p.Asp1367Tyr)
|
|
|
NM_000051.4(ATM):c.409T>G (p.Tyr137Asp)
|
rs786204177
|
|
NM_000051.4(ATM):c.40C>T (p.Gln14Ter)
|
|
|
NM_000051.4(ATM):c.4100A>G (p.Asp1367Gly)
|
|
|
NM_000051.4(ATM):c.4101C>G (p.Asp1367Glu)
|
|
|
NM_000051.4(ATM):c.4101del (p.Ser1369fs)
|
rs1565453029
|
|
NM_000051.4(ATM):c.4104T>A (p.Phe1368Leu)
|
rs569614591
|
|
NM_000051.4(ATM):c.4104T>C (p.Phe1368=)
|
rs569614591
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4105del (p.Ser1369fs)
|
|
|
NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)
|
|
|
NM_000051.4(ATM):c.4107A>G (p.Ser1369=)
|
rs2135738048
|
|
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
|
|
|
NM_000051.4(ATM):c.4108G>C (p.Gly1370Arg)
|
rs1301806793
|
|
NM_000051.4(ATM):c.4108G>T (p.Gly1370Trp)
|
|
|
NM_000051.4(ATM):c.4109+10T>A
|
rs1236628481
|
|
NM_000051.4(ATM):c.4109+11T>G
|
rs749158400
|
|
NM_000051.4(ATM):c.4109+13T>C
|
rs2082569194
|
|
NM_000051.4(ATM):c.4109+14_4109+15insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGCGTACATTTTA
|
rs2135738255
|
|
NM_000051.4(ATM):c.4109+15A>C
|
rs1057523527
|
|
NM_000051.4(ATM):c.4109+16A>G
|
rs2135738603
|
|
NM_000051.4(ATM):c.4109+17C>G
|
|
|
NM_000051.4(ATM):c.4109+19T>C
|
|
|
NM_000051.4(ATM):c.4109+1G>A
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+20dup
|
|
|
NM_000051.4(ATM):c.4109+3A>G
|
rs1388807238
|
|
NM_000051.4(ATM):c.4109+4T>G
|
rs754706599
|
|
NM_000051.4(ATM):c.4109+56G>T
|
rs555315909
|
|
NM_000051.4(ATM):c.4109+5G>A
|
rs2082568277
|
|
NM_000051.4(ATM):c.4109+6T>G
|
rs368606937
|
|
NM_000051.4(ATM):c.4109+7A>G
|
rs2135738309
|
|
NM_000051.4(ATM):c.4109+8C>A
|
rs1591656404
|
|
NM_000051.4(ATM):c.4109+8C>T
|
rs1591656404
|
|
NM_000051.4(ATM):c.4109+9A>G
|
rs730881289
|
|
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe)
|
rs547082881
|
|
NM_000051.4(ATM):c.4110-10A>G
|
rs2082636753
|
|
NM_000051.4(ATM):c.4110-11A>G
|
|
|
NM_000051.4(ATM):c.4110-11A>T
|
rs760715107
|
|
NM_000051.4(ATM):c.4110-12T>C
|
rs2135749934
|
|
NM_000051.4(ATM):c.4110-14C>T
|
|
|
NM_000051.4(ATM):c.4110-16C>A
|
rs2135749803
|
|
NM_000051.4(ATM):c.4110-17dup
|
rs2082636307
|
|
NM_000051.4(ATM):c.4110-18T>C
|
rs1057523967
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-2A>G
|
rs2135750262
|
|
NM_000051.4(ATM):c.4110-37A>T
|
|
|
NM_000051.4(ATM):c.4110-3T>C
|
|
|
NM_000051.4(ATM):c.4110-4T>G
|
rs777186156
|
|
NM_000051.4(ATM):c.4110-5G>C
|
|
|
NM_000051.4(ATM):c.4110-6T>C
|
rs1060504277
|
|
NM_000051.4(ATM):c.4110-8T>C
|
rs2135750082
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4110-9C>T
|
rs730881367
|
|
NM_000051.4(ATM):c.4110G>A (p.Gly1370=)
|
rs2082638172
|
|
NM_000051.4(ATM):c.4110G>C (p.Gly1370=)
|
rs2082638172
|
|
NM_000051.4(ATM):c.4111G>A (p.Asp1371Asn)
|
rs1565454823
|
|
NM_000051.4(ATM):c.4111G>T (p.Asp1371Tyr)
|
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4112A>G (p.Asp1371Gly)
|
|
|
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val)
|
rs762242838
|
|
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
|
rs2082638431
|
|
NM_000051.4(ATM):c.4117G>T (p.Asp1373Tyr)
|
|
|
NM_000051.4(ATM):c.4118A>G (p.Asp1373Gly)
|
|
|
NM_000051.4(ATM):c.4118A>T (p.Asp1373Val)
|
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.4122T>C (p.Pro1374=)
|
|
|
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr)
|
rs2135750720
|
|
NM_000051.4(ATM):c.4123G>T (p.Ala1375Ser)
|
rs2135750720
|
|
NM_000051.4(ATM):c.4125T>A (p.Ala1375=)
|
rs1555096804
|
|
NM_000051.4(ATM):c.4125T>C (p.Ala1375=)
|
rs1555096804
|
|
NM_000051.4(ATM):c.4125del (p.Pro1376fs)
|
|
|
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala)
|
rs863224571
|
|
NM_000051.4(ATM):c.4126C>T (p.Pro1376Ser)
|
|
|
NM_000051.4(ATM):c.4127C>G (p.Pro1376Arg)
|
rs786202406
|
|
NM_000051.4(ATM):c.4128T>G (p.Pro1376=)
|
rs2135750893
|
|
NM_000051.4(ATM):c.4129A>C (p.Asn1377His)
|
rs2082639157
|
|
NM_000051.4(ATM):c.4129A>T (p.Asn1377Tyr)
|
rs2082639157
|
|
NM_000051.4(ATM):c.412G>C (p.Gly138Arg)
|
rs150661813
|
|
NM_000051.4(ATM):c.4130A>C (p.Asn1377Thr)
|
rs1565454896
|
|
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser)
|
rs1565454896
|
|
NM_000051.4(ATM):c.4131T>C (p.Asn1377=)
|
rs2082639582
|
|
NM_000051.4(ATM):c.4132C>A (p.Pro1378Thr)
|
rs1555096817
|
|
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala)
|
rs1555096817
|
|
NM_000051.4(ATM):c.4133del (p.Pro1378fs)
|
rs2135751048
|
|
NM_000051.4(ATM):c.4134A>G (p.Pro1378=)
|
rs1591660328
|
|
NM_000051.4(ATM):c.4135C>A (p.Pro1379Thr)
|
rs1555096828
|
|
NM_000051.4(ATM):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_000051.4(ATM):c.4138C>G (p.His1380Asp)
|
|
|
NM_000051.4(ATM):c.4139A>G (p.His1380Arg)
|
rs2082640431
|
|
NM_000051.4(ATM):c.413G>C (p.Gly138Ala)
|
rs2135123439
|
|
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu)
|
rs1555096841
|
|
NM_000051.4(ATM):c.4142T>C (p.Phe1381Ser)
|
|
|
NM_000051.4(ATM):c.4143T>G (p.Phe1381Leu)
|
rs2082640762
|
|
NM_000051.4(ATM):c.4143del (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4144C>G (p.Pro1382Ala)
|
|
|
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)
|
rs752460436
|
|
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4149G>C (p.Ser1383=)
|
|
|
NM_000051.4(ATM):c.4149G>T (p.Ser1383=)
|
rs749180334
|
|
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)
|
rs876660576
|
|
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)
|
rs876660576
|
|
NM_000051.4(ATM):c.4151A>C (p.His1384Pro)
|
rs757172522
|
|
NM_000051.4(ATM):c.4151A>T (p.His1384Leu)
|
|
|
NM_000051.4(ATM):c.4152T>C (p.His1384=)
|
rs1555096888
|
|
NM_000051.4(ATM):c.4155G>A (p.Val1385=)
|
rs2082641997
|
|
NM_000051.4(ATM):c.4155G>T (p.Val1385=)
|
|
|
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val)
|
rs1555096895
|
|
NM_000051.4(ATM):c.4158T>G (p.Ile1386Met)
|
rs879254026
|
|
NM_000051.4(ATM):c.4158_4175delinsC (p.Lys1387fs)
|
rs2082642299
|
|
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000051.4(ATM):c.415G>T (p.Ala139Ser)
|
rs1555059288
|
|
NM_000051.4(ATM):c.4161A>C (p.Lys1387Asn)
|
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
|
|
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4162G>C (p.Ala1388Pro)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4162G>T (p.Ala1388Ser)
|
rs1555096903
|
|
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)
|
rs1555096908
|
|
NM_000051.4(ATM):c.4164A>G (p.Ala1388=)
|
|
|
NM_000051.4(ATM):c.4165A>G (p.Thr1389Ala)
|
rs1591660534
|
|
NM_000051.4(ATM):c.4166C>T (p.Thr1389Ile)
|
rs2082642834
|
|
NM_000051.4(ATM):c.4166_4210del (p.Thr1389_Ser1403del)
|
rs2135752050
|
|
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr)
|
rs2135752151
|
|
NM_000051.4(ATM):c.4172C>A (p.Ala1391Asp)
|
rs1591660560
|
|
NM_000051.4(ATM):c.4172C>G (p.Ala1391Gly)
|
|
|
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val)
|
rs1591660560
|
|
NM_000051.4(ATM):c.4173C>A (p.Ala1391=)
|
|
|
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4173C>T (p.Ala1391=)
|
rs1060504284
|
|
NM_000051.4(ATM):c.4173del (p.Tyr1392fs)
|
|
|
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys)
|
rs876658239
|
|
NM_000051.4(ATM):c.4175A>T (p.Tyr1392Phe)
|
rs876658239
|
|
NM_000051.4(ATM):c.4175delinsTG (p.Tyr1392fs)
|
rs2135752319
|
|
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu)
|
rs1565455097
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4179C>T (p.Ile1393=)
|
rs775688446
|
|
NM_000051.4(ATM):c.4182C>T (p.Ser1394=)
|
rs2082644520
|
|
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)
|
rs375396787
|
|
NM_000051.4(ATM):c.4185T>C (p.Asn1395=)
|
rs2135752553
|
|
NM_000051.4(ATM):c.4188T>C (p.Cys1396=)
|
rs1565455129
|
|
NM_000051.4(ATM):c.4188_4189del (p.Cys1396_His1397delinsTer)
|
rs2135752682
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
NM_000051.4(ATM):c.418G>C (p.Asp140His)
|
rs55633650
|
|
NM_000051.4(ATM):c.4192A>G (p.Lys1398Glu)
|
|
|
NM_000051.4(ATM):c.4194A>T (p.Lys1398Asn)
|
rs1565455145
|
|
NM_000051.4(ATM):c.4195A>G (p.Thr1399Ala)
|
rs1555096955
|
|
NM_000051.4(ATM):c.4195A>T (p.Thr1399Ser)
|
rs1555096955
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
NM_000051.4(ATM):c.4196C>T (p.Thr1399Ile)
|
rs786203761
|
|
NM_000051.4(ATM):c.4197C>T (p.Thr1399=)
|
rs2135752951
|
|
NM_000051.4(ATM):c.4197dup (p.Lys1400fs)
|
rs2082645600
|
|
NM_000051.4(ATM):c.4198A>C (p.Lys1400Gln)
|
rs587781950
|
|
NM_000051.4(ATM):c.4199A>C (p.Lys1400Thr)
|
|
|
NM_000051.4(ATM):c.41A>G (p.Gln14Arg)
|
rs749776879
|
|
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
|
|
|
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)
|
rs1555096975
|
|
NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs)
|
rs1591660745
|
|
NM_000051.4(ATM):c.4204A>C (p.Lys1402Gln)
|
|
|
NM_000051.4(ATM):c.4206A>C (p.Lys1402Asn)
|
rs2135753163
|
|
NM_000051.4(ATM):c.4206A>G (p.Lys1402=)
|
|
|
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly)
|
rs768726324
|
|
NM_000051.4(ATM):c.4208G>A (p.Ser1403Asn)
|
|
|
NM_000051.4(ATM):c.4208G>C (p.Ser1403Thr)
|
|
|
NM_000051.4(ATM):c.4209C>A (p.Ser1403Arg)
|
rs876658701
|
|
NM_000051.4(ATM):c.4209C>T (p.Ser1403=)
|
rs876658701
|
|
NM_000051.4(ATM):c.420T>A (p.Asp140Glu)
|
rs1591475108
|
|
NM_000051.4(ATM):c.420T>C (p.Asp140=)
|
rs1591475108
|
|
NM_000051.4(ATM):c.4211T>C (p.Ile1404Thr)
|
rs1555096989
|
|
NM_000051.4(ATM):c.4212T>C (p.Ile1404=)
|
|
|
NM_000051.4(ATM):c.4213T>G (p.Leu1405Val)
|
|
|
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer)
|
rs2082646632
|
|
NM_000051.4(ATM):c.4215A>G (p.Leu1405=)
|
|
|
NM_000051.4(ATM):c.4217A>G (p.Glu1406Gly)
|
|
|
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val)
|
rs1382006540
|
|
NM_000051.4(ATM):c.4219del (p.Ile1407fs)
|
|
|
NM_000051.4(ATM):c.421T>C (p.Cys141Arg)
|
|
|
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)
|
rs1565357020
|
|
NM_000051.4(ATM):c.4220T>C (p.Ile1407Thr)
|
|
|
NM_000051.4(ATM):c.4221T>C (p.Ile1407=)
|
|
|
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe)
|
rs1565455224
|
|
NM_000051.4(ATM):c.4222_4236+5del
|
rs2135753552
|
|
NM_000051.4(ATM):c.4225del (p.Ser1409fs)
|
rs2082647388
|
|
NM_000051.4(ATM):c.4226C>A (p.Ser1409Tyr)
|
rs730881368
|
|
NM_000051.4(ATM):c.4227C>G (p.Ser1409=)
|
rs1555097018
|
|
NM_000051.4(ATM):c.4227C>T (p.Ser1409=)
|
rs1555097018
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
NM_000051.4(ATM):c.4228A>T (p.Lys1410Ter)
|
|
|
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg)
|
rs2082647905
|
|
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr)
|
rs745890227
|
|
NM_000051.4(ATM):c.422G>T (p.Cys141Phe)
|
|
|
NM_000051.4(ATM):c.422dup (p.Cys141fs)
|
rs2079242252
|
|
NM_000051.4(ATM):c.4231_4232del (p.Ser1411fs)
|
|
|
NM_000051.4(ATM):c.4231del (p.Ser1411fs)
|
|
|
NM_000051.4(ATM):c.4232G>C (p.Ser1411Thr)
|
rs2135753735
|
|
NM_000051.4(ATM):c.4234C>T (p.Pro1412Ser)
|
rs1591660899
|
|
NM_000051.4(ATM):c.4235C>A (p.Pro1412His)
|
|
|
NM_000051.4(ATM):c.4236+10C>T
|
rs2135754219
|
|
NM_000051.4(ATM):c.4236+11A>C
|
rs368684533
|
|
NM_000051.4(ATM):c.4236+13G>C
|
rs2135754357
|
|
NM_000051.4(ATM):c.4236+15_4236+17del
|
rs1064794349
|
|
NM_000051.4(ATM):c.4236+16G>A
|
rs2135754395
|
|
NM_000051.4(ATM):c.4236+17A>T
|
|
|
NM_000051.4(ATM):c.4236+18G>A
|
|
|
NM_000051.4(ATM):c.4236+19T>G
|
rs2082650329
|
|
NM_000051.4(ATM):c.4236+1G>A
|
|
|
NM_000051.4(ATM):c.4236+1G>C
|
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4236+1_4236+2del
|
rs2135753954
|
|
NM_000051.4(ATM):c.4236+1del
|
rs2135753984
|
|
NM_000051.4(ATM):c.4236+2T>A
|
rs1229926683
|
|
NM_000051.4(ATM):c.4236+2T>C
|
|
|
NM_000051.4(ATM):c.4236+2_4236+3dup
|
|
|
NM_000051.4(ATM):c.4236+2_4236+3insCT
|
rs1185729358
|
|
NM_000051.4(ATM):c.4236+2dup
|
|
|
NM_000051.4(ATM):c.4236+3A>G
|
rs762329707
|
|
NM_000051.4(ATM):c.4236+4A>G
|
|
|
NM_000051.4(ATM):c.4236+5G>A
|
rs1441281768
|
|
NM_000051.4(ATM):c.4236+7A>G
|
rs1207435429
|
|
NM_000051.4(ATM):c.4236+9A>G
|
rs1591661022
|
|
NM_000051.4(ATM):c.4236+9dup
|
rs2135754201
|
|
NM_000051.4(ATM):c.4236T>C (p.Pro1412=)
|
|
|
NM_000051.4(ATM):c.4236T>G (p.Pro1412=)
|
rs1326629661
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
NM_000051.4(ATM):c.4237-10T>C
|
rs1312684854
|
|
NM_000051.4(ATM):c.4237-12T>C
|
|
|
NM_000051.4(ATM):c.4237-13G>T
|
|
|
NM_000051.4(ATM):c.4237-13_4237-10del
|
|
|
NM_000051.4(ATM):c.4237-13_4237-12del
|
rs1555097353
|
|
NM_000051.4(ATM):c.4237-14T>G
|
|
|
NM_000051.4(ATM):c.4237-16T>A
|
|
|
NM_000051.4(ATM):c.4237-16T>C
|
|
|
NM_000051.4(ATM):c.4237-18A>C
|
rs756842639
|
|
NM_000051.4(ATM):c.4237-18_4237-17del
|
|
|
NM_000051.4(ATM):c.4237-19A>C
|
rs753311330
|
|
NM_000051.4(ATM):c.4237-19A>G
|
rs753311330
|
|
NM_000051.4(ATM):c.4237-20T>C
|
rs2135758679
|
|
NM_000051.4(ATM):c.4237-20T>G
|
|
|
NM_000051.4(ATM):c.4237-29A>G
|
|
|
NM_000051.4(ATM):c.4237-2A>G
|
rs1591662492
|
|
NM_000051.4(ATM):c.4237-3T>C
|
|
|
NM_000051.4(ATM):c.4237-7T>C
|
rs1439775115
|
|
NM_000051.4(ATM):c.4237-7_4237-5del
|
|
|
NM_000051.4(ATM):c.4237-8T>A
|
|
|
NM_000051.4(ATM):c.4237-8T>G
|
rs750427647
|
|
NM_000051.4(ATM):c.4237-9_4237-7del
|
rs1555097355
|
|
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn)
|
rs1337392659
|
|
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr)
|
rs1337392659
|
|
NM_000051.4(ATM):c.4238A>G (p.Asp1413Gly)
|
rs2082669585
|
|
NM_000051.4(ATM):c.4238A>T (p.Asp1413Val)
|
|
|
NM_000051.4(ATM):c.4239T>C (p.Asp1413=)
|
rs1565455938
|
|
NM_000051.4(ATM):c.423T>A (p.Cys141Ter)
|
|
|
NM_000051.4(ATM):c.4240T>C (p.Ser1414Pro)
|
|
|
NM_000051.4(ATM):c.4241C>G (p.Ser1414Cys)
|
rs876659292
|
|
NM_000051.4(ATM):c.4241C>T (p.Ser1414Phe)
|
|
|
NM_000051.4(ATM):c.4242C>G (p.Ser1414=)
|
rs2135759239
|
|
NM_000051.4(ATM):c.4242C>T (p.Ser1414=)
|
rs2135759239
|
|
NM_000051.4(ATM):c.4242del (p.Tyr1415fs)
|
|
|
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys)
|
rs876660540
|
|
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter)
|
rs1057516311
|
|
NM_000051.4(ATM):c.4248G>A (p.Gln1416=)
|
rs1233637041
|
|
NM_000051.4(ATM):c.4248G>C (p.Gln1416His)
|
rs1233637041
|
|
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)
|
rs1591662598
|
|
NM_000051.4(ATM):c.424A>G (p.Ser142Gly)
|
|
|
NM_000051.4(ATM):c.4252A>G (p.Ile1418Val)
|
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
NM_000051.4(ATM):c.4255C>A (p.Leu1419Ile)
|
|
|
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)
|
rs876659842
|
|
NM_000051.4(ATM):c.4256T>G (p.Leu1419Arg)
|
|
|
NM_000051.4(ATM):c.4256_4258delinsCTT (p.Leu1419_Leu1420delinsProPhe)
|
|
|
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)
|
|
|
NM_000051.4(ATM):c.4258C>G (p.Leu1420Val)
|
|
|
NM_000051.4(ATM):c.4259T>C (p.Leu1420Pro)
|
rs1591662657
|
|
NM_000051.4(ATM):c.4260T>C (p.Leu1420=)
|
rs2135759675
|
|
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr)
|
rs1555097395
|
|
NM_000051.4(ATM):c.4262C>T (p.Ala1421Val)
|
|
|
NM_000051.4(ATM):c.4263C>G (p.Ala1421=)
|
rs1373073134
|
|
NM_000051.4(ATM):c.4263C>T (p.Ala1421=)
|
rs1373073134
|
|
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)
|
rs562445932
|
|
NM_000051.4(ATM):c.4264A>T (p.Ile1422Leu)
|
rs562445932
|
|
NM_000051.4(ATM):c.4265T>A (p.Ile1422Lys)
|
|
|
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)
|
rs876659764
|
|
NM_000051.4(ATM):c.4266A>G (p.Ile1422Met)
|
rs768794637
|
|
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)
|
rs587782442
|
|
NM_000051.4(ATM):c.4267del (p.Cys1423fs)
|
|
|
NM_000051.4(ATM):c.426C>T (p.Ser142=)
|
|
|
NM_000051.4(ATM):c.4270G>T (p.Glu1424Ter)
|
|
|
NM_000051.4(ATM):c.4271A>G (p.Glu1424Gly)
|
rs1555097423
|
|
NM_000051.4(ATM):c.4274A>G (p.Gln1425Arg)
|
rs2082671727
|
|
NM_000051.4(ATM):c.4276G>A (p.Ala1426Thr)
|
|
|
NM_000051.4(ATM):c.4277C>A (p.Ala1426Glu)
|
|
|
NM_000051.4(ATM):c.4278A>G (p.Ala1426=)
|
rs2135760176
|
|
NM_000051.4(ATM):c.4279G>C (p.Ala1427Pro)
|
|
|
NM_000051.4(ATM):c.4279G>T (p.Ala1427Ser)
|
|
|
NM_000051.4(ATM):c.427A>G (p.Asn143Asp)
|
rs587781688
|
|
NM_000051.4(ATM):c.4280del (p.Ala1427fs)
|
rs1591662758
|
|
NM_000051.4(ATM):c.4281T>C (p.Ala1427=)
|
rs876659745
|
|
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys)
|
rs1369272813
|
|
NM_000051.4(ATM):c.4282del (p.Glu1428fs)
|
rs2082672268
|
|
NM_000051.4(ATM):c.4284A>C (p.Glu1428Asp)
|
rs1555097441
|
|
NM_000051.4(ATM):c.4287A>C (p.Thr1429=)
|
rs1591662793
|
|
NM_000051.4(ATM):c.4287A>G (p.Thr1429=)
|
rs1591662793
|
|
NM_000051.4(ATM):c.4289A>G (p.Asn1430Ser)
|
rs876658870
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
NM_000051.4(ATM):c.428A>G (p.Asn143Ser)
|
rs1565357066
|
|
NM_000051.4(ATM):c.4290T>C (p.Asn1430=)
|
rs1431970078
|
|
NM_000051.4(ATM):c.4291A>C (p.Asn1431His)
|
rs748144169
|
|
NM_000051.4(ATM):c.4292A>G (p.Asn1431Ser)
|
rs201356803
|
|
NM_000051.4(ATM):c.4292A>T (p.Asn1431Ile)
|
|
|
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)
|
|
|
NM_000051.4(ATM):c.4294G>A (p.Val1432Ile)
|
|
|
NM_000051.4(ATM):c.4295T>G (p.Val1432Gly)
|
rs1131691150
|
|
NM_000051.4(ATM):c.4297T>G (p.Tyr1433Asp)
|
rs876659559
|
|
NM_000051.4(ATM):c.4298A>G (p.Tyr1433Cys)
|
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
NM_000051.4(ATM):c.429C>T (p.Asn143=)
|
rs1416280463
|
|
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
|
|
|
NM_000051.4(ATM):c.4302G>A (p.Lys1434=)
|
rs876658751
|
|
NM_000051.4(ATM):c.4302G>C (p.Lys1434Asn)
|
rs876658751
|
|
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.4303_4304insTT (p.Lys1435fs)
|
rs2082673829
|
|
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg)
|
rs769980220
|
|
NM_000051.4(ATM):c.4306C>G (p.His1436Asp)
|
|
|
NM_000051.4(ATM):c.4308C>T (p.His1436=)
|
rs1591662977
|
|
NM_000051.4(ATM):c.430A>G (p.Ile144Val)
|
rs1555059323
|
|
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys)
|
rs1227046364
|
|
NM_000051.4(ATM):c.4310G>C (p.Arg1437Thr)
|
|
|
NM_000051.4(ATM):c.4310G>T (p.Arg1437Ile)
|
|
|
NM_000051.4(ATM):c.4311A>G (p.Arg1437=)
|
rs1555097507
|
|
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser)
|
rs1555097507
|
|
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
|
|
|
NM_000051.4(ATM):c.4313T>G (p.Ile1438Ser)
|
rs1591663009
|
|
NM_000051.4(ATM):c.4315C>G (p.Leu1439Val)
|
rs1591663019
|
|
NM_000051.4(ATM):c.4316T>A (p.Leu1439His)
|
rs1591663032
|
|
NM_000051.4(ATM):c.4316T>C (p.Leu1439Pro)
|
rs1591663032
|
|
NM_000051.4(ATM):c.4317T>G (p.Leu1439=)
|
rs2135761736
|
|
NM_000051.4(ATM):c.4318A>C (p.Lys1440Gln)
|
|
|
NM_000051.4(ATM):c.4318A>G (p.Lys1440Glu)
|
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.431T>G (p.Ile144Arg)
|
rs2135124131
|
|
NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn)
|
rs2082675235
|
|
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)
|
rs774886013
|
|
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr)
|
rs1469317936
|
|
NM_000051.4(ATM):c.4322T>G (p.Ile1441Arg)
|
|
|
NM_000051.4(ATM):c.4323A>C (p.Ile1441=)
|
rs587779839
|
|
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met)
|
rs587779839
|
|
NM_000051.4(ATM):c.4323A>T (p.Ile1441=)
|
rs587779839
|
|
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys)
|
rs1565456320
|
|
NM_000051.4(ATM):c.4325A>T (p.Tyr1442Phe)
|
|
|
NM_000051.4(ATM):c.4325dup (p.Tyr1442Ter)
|
rs2135762072
|
|
NM_000051.4(ATM):c.4326T>A (p.Tyr1442Ter)
|
|
|
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)
|
rs1555097538
|
|
NM_000051.4(ATM):c.4328A>C (p.His1443Pro)
|
|
|
NM_000051.4(ATM):c.4328A>G (p.His1443Arg)
|
|
|
NM_000051.4(ATM):c.4329C>G (p.His1443Gln)
|
|
|
NM_000051.4(ATM):c.4329C>T (p.His1443=)
|
|
|
NM_000051.4(ATM):c.432A>T (p.Ile144=)
|
|
|
NM_000051.4(ATM):c.432ACT[3] (p.Leu146dup)
|
rs2135124161
|
|
NM_000051.4(ATM):c.432del (p.Leu145fs)
|
rs1555059333
|
|
NM_000051.4(ATM):c.432dup (p.Leu145fs)
|
rs1555059330
|
|
NM_000051.4(ATM):c.4330C>G (p.Leu1444Val)
|
|
|
NM_000051.4(ATM):c.4330C>T (p.Leu1444=)
|
rs2135762205
|
|
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)
|
rs1064792938
|
|
NM_000051.4(ATM):c.4331T>A (p.Leu1444Gln)
|
rs2082676298
|
|
NM_000051.4(ATM):c.4331T>C (p.Leu1444Pro)
|
|
|
NM_000051.4(ATM):c.4331_4332insTTT (p.Leu1444dup)
|
rs1060501663
|
|
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.4332del (p.Phe1445fs)
|
rs2135762420
|
|
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu)
|
rs1060501683
|
|
NM_000051.4(ATM):c.4334T>C (p.Phe1445Ser)
|
|
|
NM_000051.4(ATM):c.4335T>C (p.Phe1445=)
|
rs761225071
|
|
NM_000051.4(ATM):c.4335T>G (p.Phe1445Leu)
|
|
|
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)
|
rs2135762355
|
|
NM_000051.4(ATM):c.4335dup (p.Val1446fs)
|
rs1555097571
|
|
NM_000051.4(ATM):c.4336G>A (p.Val1446Ile)
|
rs1060501658
|
|
NM_000051.4(ATM):c.4336G>T (p.Val1446Phe)
|
rs1060501658
|
|
NM_000051.4(ATM):c.4337T>A (p.Val1446Asp)
|
rs1591663249
|
|
NM_000051.4(ATM):c.4338T>A (p.Val1446=)
|
rs2135762761
|
|
NM_000051.4(ATM):c.4339A>C (p.Ser1447Arg)
|
|
|
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs)
|
rs1591663236
|
|
NM_000051.4(ATM):c.433C>A (p.Leu145Ile)
|
rs587782328
|
|
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)
|
|
|
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg)
|
rs1565456454
|
|
NM_000051.4(ATM):c.4341T>C (p.Ser1447=)
|
rs1565456454
|
|
NM_000051.4(ATM):c.4342TTA[3] (p.Leu1450_Lys1451insLeu)
|
|
|
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)
|
rs1591663285
|
|
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs)
|
rs1565456465
|
|
NM_000051.4(ATM):c.4344A>T (p.Leu1448Phe)
|
|
|
NM_000051.4(ATM):c.4344dup (p.Leu1449fs)
|
rs1555097604
|
|
NM_000051.4(ATM):c.4345T>C (p.Leu1449=)
|
rs786201555
|
|
NM_000051.4(ATM):c.4345T>G (p.Leu1449Val)
|
rs786201555
|
|
NM_000051.4(ATM):c.4346T>C (p.Leu1449Ser)
|
rs2082678060
|
|
NM_000051.4(ATM):c.4347A>C (p.Leu1449Phe)
|
rs764787081
|
|
NM_000051.4(ATM):c.4347A>G (p.Leu1449=)
|
|
|
NM_000051.4(ATM):c.4348C>T (p.Leu1450=)
|
rs1555097622
|
|
NM_000051.4(ATM):c.4348del (p.Leu1449_Leu1450insTer)
|
|
|
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro)
|
rs750306932
|
|
NM_000051.4(ATM):c.434T>A (p.Leu145Gln)
|
rs1555059346
|
|
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)
|
rs1555059346
|
|
NM_000051.4(ATM):c.434_444del (p.Leu145fs)
|
|
|
NM_000051.4(ATM):c.4350G>A (p.Leu1450=)
|
rs1565456541
|
|
NM_000051.4(ATM):c.4353A>G (p.Lys1451=)
|
rs1565456555
|
|
NM_000051.4(ATM):c.4354G>A (p.Asp1452Asn)
|
|
|
NM_000051.4(ATM):c.4354G>C (p.Asp1452His)
|
rs1012695949
|
|
NM_000051.4(ATM):c.4354G>T (p.Asp1452Tyr)
|
rs1012695949
|
|
NM_000051.4(ATM):c.4355A>T (p.Asp1452Val)
|
rs1565456579
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
NM_000051.4(ATM):c.4359A>G (p.Ile1453Met)
|
rs1213190389
|
|
NM_000051.4(ATM):c.4359_4363del (p.Ile1453fs)
|
rs587782863
|
|
NM_000051.4(ATM):c.435A>C (p.Leu145=)
|
rs775476710
|
|
NM_000051.4(ATM):c.435A>G (p.Leu145=)
|
rs775476710
|
|
NM_000051.4(ATM):c.4360A>G (p.Lys1454Glu)
|
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
NM_000051.4(ATM):c.4362A>G (p.Lys1454=)
|
rs148993589
|
|
NM_000051.4(ATM):c.4363A>C (p.Ser1455Arg)
|
rs2135763861
|
|
NM_000051.4(ATM):c.4363del (p.Ser1455fs)
|
rs1591663478
|
|
NM_000051.4(ATM):c.4364G>C (p.Ser1455Thr)
|
rs2082679943
|
|
NM_000051.4(ATM):c.4365T>C (p.Ser1455=)
|
|
|
NM_000051.4(ATM):c.4366G>A (p.Gly1456Ser)
|
rs1591663544
|
|
NM_000051.4(ATM):c.4367G>A (p.Gly1456Asp)
|
rs894398811
|
|
NM_000051.4(ATM):c.4368C>G (p.Gly1456=)
|
rs1555097677
|
|
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)
|
|
|
NM_000051.4(ATM):c.4369T>G (p.Leu1457Val)
|
|
|
NM_000051.4(ATM):c.436C>G (p.Leu146Val)
|
|
|
NM_000051.4(ATM):c.436C>T (p.Leu146Phe)
|
rs2135124363
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4371A>G (p.Leu1457=)
|
|
|
NM_000051.4(ATM):c.4372G>A (p.Gly1458Arg)
|
rs2135764207
|
|
NM_000051.4(ATM):c.4373G>A (p.Gly1458Glu)
|
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4374_4377dup (p.Ala1460fs)
|
rs2135764458
|
|
NM_000051.4(ATM):c.4377A>C (p.Gly1459=)
|
rs1565456710
|
|
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)
|
rs1060501675
|
|
NM_000051.4(ATM):c.4379C>G (p.Ala1460Gly)
|
rs376165779
|
|
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val)
|
rs376165779
|
|
NM_000051.4(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn)
|
rs1555059356
|
|
NM_000051.4(ATM):c.4380T>G (p.Ala1460=)
|
rs1565456739
|
|
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg)
|
rs982008501
|
|
NM_000051.4(ATM):c.4381T>G (p.Trp1461Gly)
|
rs982008501
|
|
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)
|
rs1294578913
|
|
NM_000051.4(ATM):c.4384G>C (p.Ala1462Pro)
|
|
|
NM_000051.4(ATM):c.4385C>A (p.Ala1462Asp)
|
|
|
NM_000051.4(ATM):c.4385C>T (p.Ala1462Val)
|
|
|
NM_000051.4(ATM):c.4386C>A (p.Ala1462=)
|
rs1433672958
|
|
NM_000051.4(ATM):c.4386C>G (p.Ala1462=)
|
|
|
NM_000051.4(ATM):c.4386C>T (p.Ala1462=)
|
rs1433672958
|
|
NM_000051.4(ATM):c.4387T>C (p.Phe1463Leu)
|
|
|
NM_000051.4(ATM):c.4389T>C (p.Phe1463=)
|
rs1555097753
|
|
NM_000051.4(ATM):c.438C>G (p.Leu146=)
|
rs1591475272
|
|
NM_000051.4(ATM):c.438C>T (p.Leu146=)
|
rs1591475272
|
|
NM_000051.4(ATM):c.4391T>A (p.Val1464Asp)
|
rs2082682300
|
|
NM_000051.4(ATM):c.4391T>C (p.Val1464Ala)
|
rs2082682300
|
|
NM_000051.4(ATM):c.4391TTC[1] (p.Leu1465del)
|
rs2082682405
|
|
NM_000051.4(ATM):c.4393C>G (p.Leu1465Val)
|
|
|
NM_000051.4(ATM):c.4394T>A (p.Leu1465His)
|
rs730881391
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4396C>A (p.Arg1466=)
|
rs730881369
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)
|
rs749770110
|
|
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)
|
rs749770110
|
|
NM_000051.4(ATM):c.4397G>T (p.Arg1466Leu)
|
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
NM_000051.4(ATM):c.4398A>T (p.Arg1466=)
|
rs142728382
|
|
NM_000051.4(ATM):c.43C>T (p.Leu15=)
|
|
|
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.4400_4405dup (p.Val1468_Ile1469insAsnVal)
|
rs2082683548
|
|
NM_000051.4(ATM):c.4401C>G (p.Asp1467Glu)
|
|
|
NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs)
|
rs1591663850
|
|
NM_000051.4(ATM):c.4404T>C (p.Val1468=)
|
rs1555097801
|
|
NM_000051.4(ATM):c.4405del (p.Ile1469fs)
|
rs886041938
|
|
NM_000051.4(ATM):c.4408T>G (p.Tyr1470Asp)
|
|
|
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys)
|
rs1591663898
|
|
NM_000051.4(ATM):c.440_441del (p.Lys147fs)
|
|
|
NM_000051.4(ATM):c.440_443dup (p.Asp148fs)
|
|
|
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
|
|
|
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=)
|
rs1057521912
|
|
NM_000051.4(ATM):c.4410T>G (p.Tyr1470Ter)
|
|
|
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala)
|
rs2082684549
|
|
NM_000051.4(ATM):c.4412C>A (p.Thr1471Asn)
|
|
|
NM_000051.4(ATM):c.4413T>G (p.Thr1471=)
|
rs2135766153
|
|
NM_000051.4(ATM):c.4413_4431del (p.Leu1472fs)
|
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
|
|
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)
|
rs772555314
|
|
NM_000051.4(ATM):c.4415T>C (p.Leu1472Ser)
|
rs772555314
|
|
NM_000051.4(ATM):c.4415T>G (p.Leu1472Trp)
|
|
|
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)
|
rs201526888
|
|
NM_000051.4(ATM):c.4416G>C (p.Leu1472Phe)
|
|
|
NM_000051.4(ATM):c.4416G>T (p.Leu1472Phe)
|
|
|
NM_000051.4(ATM):c.4416del (p.Ile1473fs)
|
rs886039697
|
|
NM_000051.4(ATM):c.4419T>A (p.Ile1473=)
|
|
|
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met)
|
rs2082685196
|
|
NM_000051.4(ATM):c.441A>G (p.Lys147=)
|
rs1555059372
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
NM_000051.4(ATM):c.4420C>A (p.His1474Asn)
|
rs587779840
|
|
NM_000051.4(ATM):c.4421A>G (p.His1474Arg)
|
rs2082685461
|
|
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
|
|
|
NM_000051.4(ATM):c.4422C>G (p.His1474Gln)
|
|
|
NM_000051.4(ATM):c.4422C>T (p.His1474=)
|
rs1555097849
|
|
NM_000051.4(ATM):c.4423T>G (p.Tyr1475Asp)
|
rs1475596724
|
|
NM_000051.4(ATM):c.4425T>C (p.Tyr1475=)
|
rs2135766671
|
|
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val)
|
rs1565457035
|
|
NM_000051.4(ATM):c.4426_4436+14del
|
|
|
NM_000051.4(ATM):c.4428C>A (p.Ile1476=)
|
|
|
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met)
|
rs876659370
|
|
NM_000051.4(ATM):c.442G>C (p.Asp148His)
|
rs2135124628
|
|
NM_000051.4(ATM):c.442dup (p.Asp148fs)
|
rs1555059380
|
|
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)
|
|
|
NM_000051.4(ATM):c.4430dup (p.Asn1477fs)
|
|
|
NM_000051.4(ATM):c.4431C>T (p.Asn1477=)
|
rs571989748
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg)
|
rs2082686442
|
|
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu)
|
rs2082686442
|
|
NM_000051.4(ATM):c.4434A>G (p.Gln1478=)
|
rs2082686560
|
|
NM_000051.4(ATM):c.4434A>T (p.Gln1478His)
|
rs2082686560
|
|
NM_000051.4(ATM):c.4435A>G (p.Arg1479Gly)
|
rs2082686702
|
|
NM_000051.4(ATM):c.4435_4436+10del
|
|
|
NM_000051.4(ATM):c.4436+10A>T
|
|
|
NM_000051.4(ATM):c.4436+12A>G
|
rs1057521715
|
|
NM_000051.4(ATM):c.4436+13T>C
|
rs1555097905
|
|
NM_000051.4(ATM):c.4436+14T>G
|
rs762832046
|
|
NM_000051.4(ATM):c.4436+15T>C
|
|
|
NM_000051.4(ATM):c.4436+163_4436+165dup
|
rs201061190
|
|
NM_000051.4(ATM):c.4436+16A>G
|
|
|
NM_000051.4(ATM):c.4436+17G>C
|
|
|
NM_000051.4(ATM):c.4436+18A>T
|
rs1317954521
|
|
NM_000051.4(ATM):c.4436+19C>G
|
rs539302674
|
|
NM_000051.4(ATM):c.4436+19C>T
|
rs539302674
|
|
NM_000051.4(ATM):c.4436+1G>A
|
rs1555097894
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
NM_000051.4(ATM):c.4436+20C>G
|
rs1057523454
|
|
NM_000051.4(ATM):c.4436+2T>C
|
rs1555097898
|
|
NM_000051.4(ATM):c.4436+3A>G
|
rs2082686950
|
|
NM_000051.4(ATM):c.4436+3A>T
|
rs2082686950
|
|
NM_000051.4(ATM):c.4436+5A>G
|
rs2082687178
|
|
NM_000051.4(ATM):c.4436+6T>C
|
rs2082687309
|
|
NM_000051.4(ATM):c.4436+7A>G
|
rs749971237
|
|
NM_000051.4(ATM):c.4436+9C>T
|
rs1565457090
|
|
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)
|
rs2135767002
|
|
NM_000051.4(ATM):c.4437-10C>A
|
rs1397770130
|
|
NM_000051.4(ATM):c.4437-10C>T
|
rs1397770130
|
|
NM_000051.4(ATM):c.4437-13C>G
|
rs769462032
|
|
NM_000051.4(ATM):c.4437-13C>T
|
rs769462032
|
|
NM_000051.4(ATM):c.4437-14T>A
|
rs900984301
|
|
NM_000051.4(ATM):c.4437-14del
|
rs730881290
|
|
NM_000051.4(ATM):c.4437-14dup
|
rs730881290
|
|
NM_000051.4(ATM):c.4437-15T>G
|
|
|
NM_000051.4(ATM):c.4437-1G>A
|
rs759520465
|
|
NM_000051.4(ATM):c.4437-32GTT[3]
|
|
|
NM_000051.4(ATM):c.4437-3T>C
|
rs1555099722
|
|
NM_000051.4(ATM):c.4437-5A>G
|
rs876658290
|
|
NM_000051.4(ATM):c.4437-7A>C
|
rs370354306
|
|
NM_000051.4(ATM):c.4437-7dup
|
rs1565460797
|
|
NM_000051.4(ATM):c.4437-8T>G
|
rs765929660
|
|
NM_000051.4(ATM):c.4437G>A (p.Arg1479=)
|
rs1591673584
|
|
NM_000051.4(ATM):c.4438C>A (p.Pro1480Thr)
|
|
|
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser)
|
rs2082856332
|
|
NM_000051.4(ATM):c.4439C>G (p.Pro1480Arg)
|
rs200456625
|
|
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)
|
rs786202338
|
|
NM_000051.4(ATM):c.443A>G (p.Asp148Gly)
|
|
|
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro)
|
rs1064793037
|
|
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro)
|
rs2135797205
|
|
NM_000051.4(ATM):c.4443T>C (p.Ser1481=)
|
rs2135797265
|
|
NM_000051.4(ATM):c.4443T>G (p.Ser1481=)
|
|
|
NM_000051.4(ATM):c.4445G>C (p.Cys1482Ser)
|
rs201277352
|
|
NM_000051.4(ATM):c.4445G>T (p.Cys1482Phe)
|
|
|
NM_000051.4(ATM):c.4445del (p.Cys1482fs)
|
|
|
NM_000051.4(ATM):c.4446T>C (p.Cys1482=)
|
|
|
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe)
|
rs1281685502
|
|
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
|
|
|
NM_000051.4(ATM):c.444C>T (p.Asp148=)
|
|
|
NM_000051.4(ATM):c.444_450del (p.Ile149fs)
|
rs2079244120
|
|
NM_000051.4(ATM):c.4450A>G (p.Met1484Val)
|
|
|
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu)
|
rs2135797458
|
|
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs)
|
rs1565460896
|
|
NM_000051.4(ATM):c.4451T>A (p.Met1484Lys)
|
|
|
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)
|
rs786203785
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4452_4462del (p.Met1484fs)
|
|
|
NM_000051.4(ATM):c.4453_4456del (p.Asp1485fs)
|
|
|
NM_000051.4(ATM):c.4454A>C (p.Asp1485Ala)
|
rs1555099762
|
|
NM_000051.4(ATM):c.4454A>G (p.Asp1485Gly)
|
rs1555099762
|
|
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)
|
|
|
NM_000051.4(ATM):c.4455T>G (p.Asp1485Glu)
|
|
|
NM_000051.4(ATM):c.4456G>A (p.Val1486Met)
|
rs786203352
|
|
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)
|
rs786203352
|
|
NM_000051.4(ATM):c.4456G>T (p.Val1486Leu)
|
rs786203352
|
|
NM_000051.4(ATM):c.4458G>A (p.Val1486=)
|
rs1591673788
|
|
NM_000051.4(ATM):c.4458G>T (p.Val1486=)
|
rs1591673788
|
|
NM_000051.4(ATM):c.4458_4459del (p.Ser1487fs)
|
rs2135797740
|
|
NM_000051.4(ATM):c.445A>G (p.Ile149Val)
|
rs1565357194
|
|
NM_000051.4(ATM):c.445A>T (p.Ile149Phe)
|
rs1565357194
|
|
NM_000051.4(ATM):c.4460C>G (p.Ser1487Ter)
|
rs1591673803
|
|
NM_000051.4(ATM):c.4461A>C (p.Ser1487=)
|
|
|
NM_000051.4(ATM):c.4461A>G (p.Ser1487=)
|
rs2082859007
|
|
NM_000051.4(ATM):c.4461_4464del (p.Leu1488fs)
|
|
|
NM_000051.4(ATM):c.4462T>C (p.Leu1488=)
|
rs1591673809
|
|
NM_000051.4(ATM):c.4466G>C (p.Arg1489Pro)
|
|
|
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu)
|
rs201594549
|
|
NM_000051.4(ATM):c.4466_4467insAG (p.Ser1490fs)
|
rs2135798107
|
|
NM_000051.4(ATM):c.4467del (p.Ser1490fs)
|
rs2135798153
|
|
NM_000051.4(ATM):c.4469G>A (p.Ser1490Asn)
|
rs2135798205
|
|
NM_000051.4(ATM):c.446T>A (p.Ile149Asn)
|
rs587782353
|
|
NM_000051.4(ATM):c.4470C>T (p.Ser1490=)
|
rs2135798259
|
|
NM_000051.4(ATM):c.4471T>G (p.Phe1491Val)
|
rs587781944
|
|
NM_000051.4(ATM):c.4475C>G (p.Ser1492Cys)
|
|
|
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val)
|
rs377595814
|
|
NM_000051.4(ATM):c.4478T>G (p.Leu1493Arg)
|
|
|
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser)
|
rs1060501576
|
|
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg)
|
rs1060501576
|
|
NM_000051.4(ATM):c.4483del (p.Cys1495fs)
|
rs2135798648
|
|
NM_000051.4(ATM):c.4484G>T (p.Cys1495Phe)
|
rs878853510
|
|
NM_000051.4(ATM):c.4485T>C (p.Cys1495=)
|
rs2135798721
|
|
NM_000051.4(ATM):c.4486G>C (p.Asp1496His)
|
|
|
NM_000051.4(ATM):c.4487A>G (p.Asp1496Gly)
|
|
|
NM_000051.4(ATM):c.4488C>T (p.Asp1496=)
|
rs772833802
|
|
NM_000051.4(ATM):c.4489T>C (p.Leu1497=)
|
|
|
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del)
|
rs1555099818
|
|
NM_000051.4(ATM):c.448C>A (p.Leu150Ile)
|
|
|
NM_000051.4(ATM):c.448C>G (p.Leu150Val)
|
rs1555059404
|
|
NM_000051.4(ATM):c.448C>T (p.Leu150Phe)
|
rs1555059404
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
NM_000051.4(ATM):c.4491A>G (p.Leu1497=)
|
rs878853511
|
|
NM_000051.4(ATM):c.4492T>A (p.Leu1498Ile)
|
|
|
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser)
|
rs1329359780
|
|
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)
|
rs1329359780
|
|
NM_000051.4(ATM):c.4493_4494insSVAelement
|
rs2082862502
|
|
NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCTGTTGTGACTTATT (p.Leu1498delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValArgTer)
|
|
|
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
|
|
|
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe)
|
rs1064793476
|
|
NM_000051.4(ATM):c.4495A>C (p.Ser1499Arg)
|
rs2135799018
|
|
NM_000051.4(ATM):c.4496G>C (p.Ser1499Thr)
|
rs1222314846
|
|
NM_000051.4(ATM):c.4497_4519dup (p.Thr1507delinsIleArgPheAlaArgGlnProTer)
|
rs2135799107
|
|
NM_000051.4(ATM):c.4498C>G (p.Gln1500Glu)
|
rs1591674064
|
|
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
|
|
|
NM_000051.4(ATM):c.4499A>C (p.Gln1500Pro)
|
rs786203789
|
|
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg)
|
rs786203789
|
|
NM_000051.4(ATM):c.4499A>T (p.Gln1500Leu)
|
|
|
NM_000051.4(ATM):c.449T>C (p.Leu150Pro)
|
rs2079244605
|
|
NM_000051.4(ATM):c.44T>A (p.Leu15Gln)
|
rs1555053927
|
|
NM_000051.4(ATM):c.44T>G (p.Leu15Arg)
|
rs1555053927
|
|
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe)
|
rs370574283
|
|
NM_000051.4(ATM):c.4503T>C (p.Val1501=)
|
rs2082863480
|
|
NM_000051.4(ATM):c.4505G>A (p.Cys1502Tyr)
|
rs759340881
|
|
NM_000051.4(ATM):c.4506C>T (p.Cys1502=)
|
rs876659908
|
|
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg)
|
rs1555099858
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile)
|
rs1060501638
|
|
NM_000051.4(ATM):c.4514C>T (p.Ala1505Val)
|
rs1064795883
|
|
NM_000051.4(ATM):c.4515C>A (p.Ala1505=)
|
rs540798997
|
|
NM_000051.4(ATM):c.4515C>G (p.Ala1505=)
|
rs540798997
|
|
NM_000051.4(ATM):c.4516G>A (p.Val1506Met)
|
rs760542469
|
|
NM_000051.4(ATM):c.4516G>C (p.Val1506Leu)
|
rs760542469
|
|
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu)
|
rs760542469
|
|
NM_000051.4(ATM):c.4517T>A (p.Val1506Glu)
|
rs1555099878
|
|
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala)
|
rs1555099878
|
|
NM_000051.4(ATM):c.4517_4518insCTTACTTACTTAAGGATGCT (p.Val1506_Thr1507insLeuLeuThrTer)
|
rs2135799845
|
|
NM_000051.4(ATM):c.4518G>C (p.Val1506=)
|
rs1057524110
|
|
NM_000051.4(ATM):c.4518G>T (p.Val1506=)
|
rs1057524110
|
|
NM_000051.4(ATM):c.451T>C (p.Ser151Pro)
|
rs1565357241
|
|
NM_000051.4(ATM):c.451_452insSVAelement
|
rs2079244988
|
|
NM_000051.4(ATM):c.4521T>C (p.Thr1507=)
|
|
|
NM_000051.4(ATM):c.4521T>G (p.Thr1507=)
|
rs1555099885
|
|
NM_000051.4(ATM):c.4522dup (p.Tyr1508fs)
|
rs1555099888
|
|
NM_000051.4(ATM):c.4523A>G (p.Tyr1508Cys)
|
rs1565461319
|
|
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter)
|
rs2135800044
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=)
|
rs1555099892
|
|
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg)
|
rs1064795574
|
|
NM_000051.4(ATM):c.4526G>A (p.Cys1509Tyr)
|
rs2082866294
|
|
NM_000051.4(ATM):c.452C>A (p.Ser151Tyr)
|
|
|
NM_000051.4(ATM):c.452C>G (p.Ser151Cys)
|
rs1565357249
|
|
NM_000051.4(ATM):c.452C>T (p.Ser151Phe)
|
rs1565357249
|
|
NM_000051.4(ATM):c.452_453del (p.Ser151fs)
|
|
|
NM_000051.4(ATM):c.4531G>A (p.Asp1511Asn)
|
rs2135800277
|
|
NM_000051.4(ATM):c.4531G>C (p.Asp1511His)
|
rs2135800277
|
|
NM_000051.4(ATM):c.4532A>G (p.Asp1511Gly)
|
rs1591674356
|
|
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val)
|
rs1591674356
|
|
NM_000051.4(ATM):c.4533T>A (p.Asp1511Glu)
|
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4535C>A (p.Ala1512Asp)
|
rs1591674385
|
|
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val)
|
rs1591674385
|
|
NM_000051.4(ATM):c.4536T>C (p.Ala1512=)
|
rs1555099909
|
|
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val)
|
rs2082867393
|
|
NM_000051.4(ATM):c.4537C>T (p.Leu1513=)
|
rs2082867393
|
|
NM_000051.4(ATM):c.4539A>G (p.Leu1513=)
|
|
|
NM_000051.4(ATM):c.453T>C (p.Ser151=)
|
rs2135125035
|
|
NM_000051.4(ATM):c.4540G>A (p.Glu1514Lys)
|
|
|
NM_000051.4(ATM):c.4543A>G (p.Asn1515Asp)
|
|
|
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr)
|
rs1565461414
|
|
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser)
|
rs1565461414
|
|
NM_000051.4(ATM):c.4544dup (p.Asn1515fs)
|
rs2082867555
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
NM_000051.4(ATM):c.4546C>A (p.His1516Asn)
|
rs1389372050
|
|
NM_000051.4(ATM):c.4547A>G (p.His1516Arg)
|
rs1565461434
|
|
NM_000051.4(ATM):c.4547A>T (p.His1516Leu)
|
|
|
NM_000051.4(ATM):c.454G>A (p.Val152Met)
|
|
|
NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer)
|
rs1555059421
|
|
NM_000051.4(ATM):c.4551T>C (p.Leu1517=)
|
rs1459998980
|
|
NM_000051.4(ATM):c.4552C>A (p.His1518Asn)
|
rs2135800970
|
|
NM_000051.4(ATM):c.4552_4556del (p.His1518fs)
|
rs2082868647
|
|
NM_000051.4(ATM):c.4553A>G (p.His1518Arg)
|
rs762132832
|
|
NM_000051.4(ATM):c.4555G>A (p.Val1519Ile)
|
rs969120822
|
|
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu)
|
rs969120822
|
|
NM_000051.4(ATM):c.4555del (p.Val1519fs)
|
rs2135801094
|
|
NM_000051.4(ATM):c.4557T>A (p.Val1519=)
|
rs2135801173
|
|
NM_000051.4(ATM):c.4558A>C (p.Ile1520Leu)
|
rs765195241
|
|
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)
|
|
|
NM_000051.4(ATM):c.4560T>C (p.Ile1520=)
|
rs1057520925
|
|
NM_000051.4(ATM):c.4560T>G (p.Ile1520Met)
|
|
|
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile)
|
rs141329176
|
|
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala)
|
rs786202673
|
|
NM_000051.4(ATM):c.4563_4565delinsCA (p.Gly1522fs)
|
|
|
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg)
|
rs1064795495
|
|
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp)
|
rs1555099954
|
|
NM_000051.4(ATM):c.4565G>T (p.Gly1522Val)
|
rs1555099954
|
|
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile)
|
rs1555099959
|
|
NM_000051.4(ATM):c.4569A>C (p.Thr1523=)
|
rs1555099963
|
|
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile)
|
rs780603110
|
|
NM_000051.4(ATM):c.4570C>G (p.Leu1524Val)
|
rs780603110
|
|
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe)
|
rs780603110
|
|
NM_000051.4(ATM):c.4571T>A (p.Leu1524His)
|
rs1555099971
|
|
NM_000051.4(ATM):c.4572del (p.Ile1525fs)
|
rs2135801606
|
|
NM_000051.4(ATM):c.4574_4578delinsCT (p.Ile1525_Pro1526delinsThr)
|
rs1591674657
|
|
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met)
|
rs781539071
|
|
NM_000051.4(ATM):c.4575dup (p.Pro1526fs)
|
rs2135801723
|
|
NM_000051.4(ATM):c.4576C>G (p.Pro1526Ala)
|
rs748898098
|
|
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)
|
rs748898098
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
NM_000051.4(ATM):c.4577C>T (p.Pro1526Leu)
|
rs770590652
|
|
NM_000051.4(ATM):c.4577_4578delinsTT (p.Pro1526Leu)
|
rs1591674732
|
|
NM_000051.4(ATM):c.4578C>A (p.Pro1526=)
|
rs1800889
|
|
NM_000051.4(ATM):c.4578C>G (p.Pro1526=)
|
|
|
NM_000051.4(ATM):c.4578_4580delinsTCG (p.Leu1527Arg)
|
|
|
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)
|
rs1555099997
|
|
NM_000051.4(ATM):c.4579C>T (p.Leu1527Phe)
|
rs1555099997
|
|
NM_000051.4(ATM):c.4579del (p.Val1528fs)
|
rs1565461674
|
|
NM_000051.4(ATM):c.457A>G (p.Arg153Gly)
|
rs1555059438
|
|
NM_000051.4(ATM):c.4580T>C (p.Leu1527Pro)
|
|
|
NM_000051.4(ATM):c.4580T>G (p.Leu1527Arg)
|
|
|
NM_000051.4(ATM):c.4584G>A (p.Val1528=)
|
rs1555100000
|
|
NM_000051.4(ATM):c.4584G>T (p.Val1528=)
|
rs1555100000
|
|
NM_000051.4(ATM):c.4584_4585del (p.Val1528_Tyr1529insTer)
|
rs2135802014
|
|
NM_000051.4(ATM):c.4584dup (p.Tyr1529fs)
|
|
|
NM_000051.4(ATM):c.4585T>C (p.Tyr1529His)
|
|
|
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys)
|
rs1365089723
|
|
NM_000051.4(ATM):c.4587T>A (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4589A>C (p.Glu1530Ala)
|
rs2082872800
|
|
NM_000051.4(ATM):c.4589A>T (p.Glu1530Val)
|
|
|
NM_000051.4(ATM):c.4590G>A (p.Glu1530=)
|
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4593G>A (p.Gln1531=)
|
rs1591674814
|
|
NM_000051.4(ATM):c.4594G>A (p.Val1532Met)
|
rs2135802444
|
|
NM_000051.4(ATM):c.4594del (p.Val1532fs)
|
|
|
NM_000051.4(ATM):c.4596G>A (p.Val1532=)
|
rs2135802501
|
|
NM_000051.4(ATM):c.4596G>T (p.Val1532=)
|
|
|
NM_000051.4(ATM):c.4599G>A (p.Glu1533=)
|
rs1274454004
|
|
NM_000051.4(ATM):c.4599G>C (p.Glu1533Asp)
|
|
|
NM_000051.4(ATM):c.459A>G (p.Arg153=)
|
rs2135125274
|
|
NM_000051.4(ATM):c.4600G>T (p.Val1534Phe)
|
rs745351684
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
NM_000051.4(ATM):c.4603C>T (p.Gln1535Ter)
|
rs771549673
|
|
NM_000051.4(ATM):c.4605G>A (p.Gln1535=)
|
|
|
NM_000051.4(ATM):c.4605G>C (p.Gln1535His)
|
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
NM_000051.4(ATM):c.4610A>G (p.Gln1537Arg)
|
rs1064794041
|
|
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu)
|
rs1064794041
|
|
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
|
|
|
NM_000051.4(ATM):c.4611+10T>A
|
|
|
NM_000051.4(ATM):c.4611+11G>T
|
rs2135803264
|
|
NM_000051.4(ATM):c.4611+12A>G
|
rs1057520230
|
|
NM_000051.4(ATM):c.4611+12A>T
|
|
|
NM_000051.4(ATM):c.4611+13C>T
|
rs1565461868
|
|
NM_000051.4(ATM):c.4611+14T>C
|
|
|
NM_000051.4(ATM):c.4611+14T>G
|
rs1270804277
|
|
NM_000051.4(ATM):c.4611+15C>G
|
|
|
NM_000051.4(ATM):c.4611+15C>T
|
|
|
NM_000051.4(ATM):c.4611+16A>G
|
rs2082875990
|
|
NM_000051.4(ATM):c.4611+17T>A
|
|
|
NM_000051.4(ATM):c.4611+17T>C
|
rs768500911
|
|
NM_000051.4(ATM):c.4611+18C>G
|
|
|
NM_000051.4(ATM):c.4611+18C>T
|
rs1057522843
|
|
NM_000051.4(ATM):c.4611+1G>A
|
rs1565461840
|
|
NM_000051.4(ATM):c.4611+1G>T
|
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
NM_000051.4(ATM):c.4611+23A>G
|
|
|
NM_000051.4(ATM):c.4611+28G>A
|
|
|
NM_000051.4(ATM):c.4611+3A>C
|
rs2082874444
|
|
NM_000051.4(ATM):c.4611+3A>G
|
rs2082874444
|
|
NM_000051.4(ATM):c.4611+4A>G
|
rs1591674933
|
|
NM_000051.4(ATM):c.4611+6T>C
|
rs1555100047
|
|
NM_000051.4(ATM):c.4611+8T>C
|
rs1057522426
|
|
NM_000051.4(ATM):c.4611+8T>G
|
rs1057522426
|
|
NM_000051.4(ATM):c.4611+8del
|
|
|
NM_000051.4(ATM):c.4611G>C (p.Gln1537His)
|
|
|
NM_000051.4(ATM):c.4611_4611+9del
|
rs780969040
|
|
NM_000051.4(ATM):c.4612-10T>C
|
rs2135809073
|
|
NM_000051.4(ATM):c.4612-11A>T
|
rs1217349031
|
|
NM_000051.4(ATM):c.4612-122G>A
|
rs4988009
|
|
NM_000051.4(ATM):c.4612-122G>T
|
rs4988009
|
|
NM_000051.4(ATM):c.4612-12A>T
|
rs1326401118
|
|
NM_000051.4(ATM):c.4612-13A>T
|
rs1267116629
|
|
NM_000051.4(ATM):c.4612-14T>C
|
|
|
NM_000051.4(ATM):c.4612-18T>C
|
|
|
NM_000051.4(ATM):c.4612-19C>A
|
rs1336477936
|
|
NM_000051.4(ATM):c.4612-19C>T
|
rs1336477936
|
|
NM_000051.4(ATM):c.4612-1G>A
|
rs1555100351
|
|
NM_000051.4(ATM):c.4612-2A>C
|
rs1555100347
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
NM_000051.4(ATM):c.4612-4T>A
|
rs569983068
|
|
NM_000051.4(ATM):c.4612-5T>C
|
|
|
NM_000051.4(ATM):c.4612-6A>G
|
rs2135809248
|
|
NM_000051.4(ATM):c.4612-8A>G
|
rs1555100341
|
|
NM_000051.4(ATM):c.4612-9T>C
|
|
|
NM_000051.4(ATM):c.4612G>C (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
NM_000051.4(ATM):c.4616T>C (p.Leu1539Ser)
|
rs1591676806
|
|
NM_000051.4(ATM):c.4617G>A (p.Leu1539=)
|
rs1179885415
|
|
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn)
|
rs778622948
|
|
NM_000051.4(ATM):c.4618G>C (p.Asp1540His)
|
rs778622948
|
|
NM_000051.4(ATM):c.4620C>T (p.Asp1540=)
|
rs1329153013
|
|
NM_000051.4(ATM):c.4621T>G (p.Leu1541Val)
|
|
|
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
|
|
|
NM_000051.4(ATM):c.4622del (p.Leu1541fs)
|
rs2135809766
|
|
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe)
|
rs3092849
|
|
NM_000051.4(ATM):c.4624T>C (p.Leu1542=)
|
rs876658826
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.4626_4632del (p.Leu1542fs)
|
rs2135810015
|
|
NM_000051.4(ATM):c.4627A>G (p.Lys1543Glu)
|
|
|
NM_000051.4(ATM):c.462A>G (p.Lys154=)
|
rs876659923
|
|
NM_000051.4(ATM):c.462del (p.Lys154fs)
|
|
|
NM_000051.4(ATM):c.4631A>T (p.Tyr1544Phe)
|
|
|
NM_000051.4(ATM):c.4632C>A (p.Tyr1544Ter)
|
|
|
NM_000051.4(ATM):c.4632C>G (p.Tyr1544Ter)
|
|
|
NM_000051.4(ATM):c.4632C>T (p.Tyr1544=)
|
rs2135810212
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4635A>G (p.Leu1545=)
|
rs2135810263
|
|
NM_000051.4(ATM):c.4636G>A (p.Val1546Met)
|
rs1305696123
|
|
NM_000051.4(ATM):c.4637_4642del (p.Val1546_Ile1547del)
|
rs2135810241
|
|
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)
|
rs537377433
|
|
NM_000051.4(ATM):c.463T>C (p.Tyr155His)
|
|
|
NM_000051.4(ATM):c.463T>G (p.Tyr155Asp)
|
rs1555059450
|
|
NM_000051.4(ATM):c.4641A>C (p.Ile1547=)
|
|
|
NM_000051.4(ATM):c.4641A>G (p.Ile1547Met)
|
|
|
NM_000051.4(ATM):c.4642_4643inv (p.Asp1548Ser)
|
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
NM_000051.4(ATM):c.4643A>G (p.Asp1548Gly)
|
|
|
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val)
|
rs1448017467
|
|
NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)
|
|
|
NM_000051.4(ATM):c.4647C>G (p.Asn1549Lys)
|
rs1300874775
|
|
NM_000051.4(ATM):c.4647C>T (p.Asn1549=)
|
rs1300874775
|
|
NM_000051.4(ATM):c.4648A>G (p.Lys1550Glu)
|
rs1555100449
|
|
NM_000051.4(ATM):c.4649A>G (p.Lys1550Arg)
|
|
|
NM_000051.4(ATM):c.4650G>T (p.Lys1550Asn)
|
rs876660003
|
|
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly)
|
rs1555100455
|
|
NM_000051.4(ATM):c.4653T>A (p.Asp1551Glu)
|
|
|
NM_000051.4(ATM):c.4653_4672dup (p.Thr1558fs)
|
rs2082915385
|
|
NM_000051.4(ATM):c.4655A>G (p.Asn1552Ser)
|
rs2135810797
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
NM_000051.4(ATM):c.4658A>G (p.Glu1553Gly)
|
rs587778075
|
|
NM_000051.4(ATM):c.465C>G (p.Tyr155Ter)
|
|
|
NM_000051.4(ATM):c.465C>T (p.Tyr155=)
|
rs2079245609
|
|
NM_000051.4(ATM):c.465_479del (p.Trp156_Ser160del)
|
rs2079245695
|
|
NM_000051.4(ATM):c.4660_4661insTTTTTATT (p.Asn1554fs)
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4662C>T (p.Asn1554=)
|
rs776761757
|
|
NM_000051.4(ATM):c.4663C>T (p.Leu1555Phe)
|
rs1555100478
|
|
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4665C>G (p.Leu1555=)
|
rs374431061
|
|
NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser)
|
rs587782037
|
|
NM_000051.4(ATM):c.4667A>T (p.Tyr1556Phe)
|
|
|
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)
|
rs766438805
|
|
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)
|
rs766438805
|
|
NM_000051.4(ATM):c.4669A>G (p.Ile1557Val)
|
rs2135811264
|
|
NM_000051.4(ATM):c.4669del (p.Ile1557fs)
|
rs1591677254
|
|
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn)
|
rs2082917922
|
|
NM_000051.4(ATM):c.4671C>A (p.Ile1557=)
|
rs966733287
|
|
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met)
|
rs966733287
|
|
NM_000051.4(ATM):c.4673C>A (p.Thr1558Lys)
|
rs587781712
|
|
NM_000051.4(ATM):c.4674_4695del (p.Ile1559fs)
|
rs2135811484
|
|
NM_000051.4(ATM):c.4675A>G (p.Ile1559Val)
|
|
|
NM_000051.4(ATM):c.4676T>G (p.Ile1559Ser)
|
|
|
NM_000051.4(ATM):c.4677T>C (p.Ile1559=)
|
rs759660081
|
|
NM_000051.4(ATM):c.4678A>C (p.Lys1560Gln)
|
rs767981230
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
NM_000051.4(ATM):c.467G>C (p.Trp156Ser)
|
rs876658159
|
|
NM_000051.4(ATM):c.4680G>A (p.Lys1560=)
|
rs2135811674
|
|
NM_000051.4(ATM):c.4680G>C (p.Lys1560Asn)
|
rs2135811674
|
|
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
|
|
|
NM_000051.4(ATM):c.4681C>G (p.Leu1561Val)
|
rs1591677342
|
|
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.4683T>C (p.Leu1561=)
|
rs2135811760
|
|
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)
|
rs886039515
|
|
NM_000051.4(ATM):c.4685del (p.Leu1561_Leu1562insTer)
|
|
|
NM_000051.4(ATM):c.4687G>C (p.Asp1563His)
|
rs1464587365
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
NM_000051.4(ATM):c.468G>C (p.Trp156Cys)
|
|
|
NM_000051.4(ATM):c.468del (p.Trp156fs)
|
rs2079245902
|
|
NM_000051.4(ATM):c.4690C>A (p.Pro1564Thr)
|
rs1490905322
|
|
NM_000051.4(ATM):c.4691C>A (p.Pro1564His)
|
rs1064793971
|
|
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu)
|
rs1064793971
|
|
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
|
|
|
NM_000051.4(ATM):c.4695del (p.Pro1566fs)
|
rs1057517452
|
|
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)
|
|
|
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)
|
rs876659069
|
|
NM_000051.4(ATM):c.46G>T (p.Glu16Ter)
|
|
|
NM_000051.4(ATM):c.4700A>G (p.Asp1567Gly)
|
rs1565463108
|
|
NM_000051.4(ATM):c.4700A>T (p.Asp1567Val)
|
|
|
NM_000051.4(ATM):c.4701C>T (p.Asp1567=)
|
rs1591677421
|
|
NM_000051.4(ATM):c.4703A>T (p.His1568Leu)
|
rs368830730
|
|
NM_000051.4(ATM):c.4704T>C (p.His1568=)
|
rs1057522200
|
|
NM_000051.4(ATM):c.4705G>T (p.Val1569Phe)
|
|
|
NM_000051.4(ATM):c.4706T>A (p.Val1569Asp)
|
rs1555100549
|
|
NM_000051.4(ATM):c.4706T>C (p.Val1569Ala)
|
rs1555100549
|
|
NM_000051.4(ATM):c.4707T>G (p.Val1569=)
|
rs1591677478
|
|
NM_000051.4(ATM):c.4707dup (p.Val1570fs)
|
|
|
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
|
|
|
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
|
|
|
NM_000051.4(ATM):c.470G>T (p.Cys157Phe)
|
rs1591475486
|
|
NM_000051.4(ATM):c.4713T>C (p.Phe1571=)
|
rs750027746
|
|
NM_000051.4(ATM):c.4719T>C (p.Asp1573=)
|
|
|
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)
|
|
|
NM_000051.4(ATM):c.471T>A (p.Cys157Ter)
|
rs1555059459
|
|
NM_000051.4(ATM):c.471T>C (p.Cys157=)
|
|
|
NM_000051.4(ATM):c.4720T>G (p.Leu1574Val)
|
|
|
NM_000051.4(ATM):c.4723C>A (p.Arg1575Ser)
|
rs1408892416
|
|
NM_000051.4(ATM):c.4723C>G (p.Arg1575Gly)
|
rs1408892416
|
|
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys)
|
rs1408892416
|
|
NM_000051.4(ATM):c.4723_4725delinsAGA (p.Arg1575=)
|
rs2082921459
|
|
NM_000051.4(ATM):c.4724G>T (p.Arg1575Leu)
|
|
|
NM_000051.4(ATM):c.4725T>C (p.Arg1575=)
|
rs1555100576
|
|
NM_000051.4(ATM):c.4725dup (p.Ile1576fs)
|
rs1565463203
|
|
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val)
|
rs2082921955
|
|
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr)
|
rs2082922133
|
|
NM_000051.4(ATM):c.4728T>C (p.Ile1576=)
|
|
|
NM_000051.4(ATM):c.4728del (p.Thr1577fs)
|
|
|
NM_000051.4(ATM):c.4729A>G (p.Thr1577Ala)
|
|
|
NM_000051.4(ATM):c.4730C>G (p.Thr1577Ser)
|
|
|
NM_000051.4(ATM):c.4730C>T (p.Thr1577Ile)
|
rs2135812963
|
|
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
|
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
NM_000051.4(ATM):c.4731T>G (p.Thr1577=)
|
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg)
|
rs2082922811
|
|
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
|
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4736A>C (p.Gln1579Pro)
|
|
|
NM_000051.4(ATM):c.4738A>G (p.Lys1580Glu)
|
rs1591677635
|
|
NM_000051.4(ATM):c.4740A>C (p.Lys1580Asn)
|
rs2082923397
|
|
NM_000051.4(ATM):c.4740A>G (p.Lys1580=)
|
rs2082923397
|
|
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val)
|
rs1565463271
|
|
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
|
|
|
NM_000051.4(ATM):c.4741del (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4742T>G (p.Ile1581Ser)
|
|
|
NM_000051.4(ATM):c.4743C>A (p.Ile1581=)
|
|
|
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met)
|
rs1591677662
|
|
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)
|
rs1555100593
|
|
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
|
|
|
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=)
|
rs1555100597
|
|
NM_000051.4(ATM):c.4750A>G (p.Ser1584Gly)
|
|
|
NM_000051.4(ATM):c.4751G>A (p.Ser1584Asn)
|
rs1591677692
|
|
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile)
|
rs1591677692
|
|
NM_000051.4(ATM):c.4752T>C (p.Ser1584=)
|
rs1555100601
|
|
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)
|
rs781275128
|
|
NM_000051.4(ATM):c.4754G>A (p.Arg1585Lys)
|
|
|
NM_000051.4(ATM):c.4755A>G (p.Arg1585=)
|
|
|
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg)
|
rs1565463314
|
|
NM_000051.4(ATM):c.4757G>A (p.Gly1586Glu)
|
|
|
NM_000051.4(ATM):c.4758A>T (p.Gly1586=)
|
rs2135813614
|
|
NM_000051.4(ATM):c.4758_4759del (p.Pro1587fs)
|
|
|
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)
|
|
|
NM_000051.4(ATM):c.475A>C (p.Ile159Leu)
|
rs1565357315
|
|
NM_000051.4(ATM):c.475del (p.Ile159fs)
|
rs1555059464
|
|
NM_000051.4(ATM):c.4760C>A (p.Pro1587His)
|
rs748044422
|
|
NM_000051.4(ATM):c.4761C>G (p.Pro1587=)
|
rs769562370
|
|
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)
|
rs1591677757
|
|
NM_000051.4(ATM):c.4762T>C (p.Phe1588Leu)
|
rs2082925146
|
|
NM_000051.4(ATM):c.4766C>T (p.Ser1589Leu)
|
rs2082925270
|
|
NM_000051.4(ATM):c.4766_4772del (p.Ser1589fs)
|
|
|
NM_000051.4(ATM):c.4767A>G (p.Ser1589=)
|
rs1591677805
|
|
NM_000051.4(ATM):c.4768C>G (p.Leu1590Val)
|
rs35962982
|
|
NM_000051.4(ATM):c.4769T>G (p.Leu1590Arg)
|
|
|
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)
|
rs749475519
|
|
NM_000051.4(ATM):c.4772T>A (p.Leu1591Ter)
|
|
|
NM_000051.4(ATM):c.4772T>C (p.Leu1591Ser)
|
rs1565463381
|
|
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp)
|
rs1565463381
|
|
NM_000051.4(ATM):c.4773G>T (p.Leu1591Phe)
|
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
NM_000051.4(ATM):c.4774del (p.Glu1592fs)
|
rs2135814096
|
|
NM_000051.4(ATM):c.4775A>C (p.Glu1592Ala)
|
rs1565463405
|
|
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)
|
rs1565463405
|
|
NM_000051.4(ATM):c.4775A>T (p.Glu1592Val)
|
|
|
NM_000051.4(ATM):c.4776+10A>T
|
rs2135814400
|
|
NM_000051.4(ATM):c.4776+10del
|
rs878853512
|
|
NM_000051.4(ATM):c.4776+15A>G
|
|
|
NM_000051.4(ATM):c.4776+17C>G
|
rs767641642
|
|
NM_000051.4(ATM):c.4776+17C>T
|
|
|
NM_000051.4(ATM):c.4776+18_4776+20del
|
|
|
NM_000051.4(ATM):c.4776+1G>A
|
|
|
NM_000051.4(ATM):c.4776+1G>C
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+20C>A
|
rs1565463486
|
|
NM_000051.4(ATM):c.4776+20C>T
|
|
|
NM_000051.4(ATM):c.4776+23_4776+25del
|
rs770860526
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
NM_000051.4(ATM):c.4776+43_4776+44del
|
|
|
NM_000051.4(ATM):c.4776+4A>G
|
rs1591677924
|
|
NM_000051.4(ATM):c.4776+6A>C
|
rs1348555180
|
|
NM_000051.4(ATM):c.4776+7A>C
|
rs2082927524
|
|
NM_000051.4(ATM):c.4776+9A>G
|
rs2135814376
|
|
NM_000051.4(ATM):c.4776G>A (p.Glu1592=)
|
rs786202973
|
|
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)
|
rs786202973
|
|
NM_000051.4(ATM):c.4776G>T (p.Glu1592Asp)
|
|
|
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA
|
rs1555101600
|
|
NM_000051.4(ATM):c.4777-10del
|
rs1398289633
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
NM_000051.4(ATM):c.4777-11T>G
|
|
|
NM_000051.4(ATM):c.4777-13_4777-10dup
|
|
|
NM_000051.4(ATM):c.4777-14A>G
|
|
|
NM_000051.4(ATM):c.4777-16A>G
|
rs942981609
|
|
NM_000051.4(ATM):c.4777-1G>A
|
rs1591684268
|
|
NM_000051.4(ATM):c.4777-1_4777insTTACATTTACATTTTAGTTAATTTTAG
|
rs1555101604
|
|
NM_000051.4(ATM):c.4777-2A>C
|
|
|
NM_000051.4(ATM):c.4777-2A>G
|
|
|
NM_000051.4(ATM):c.4777-3dup
|
rs2083032760
|
|
NM_000051.4(ATM):c.4777-4_4777-3del
|
rs2083032760
|
|
NM_000051.4(ATM):c.4777-5T>G
|
|
|
NM_000051.4(ATM):c.4777-65del
|
rs1035735880
|
|
NM_000051.4(ATM):c.4777-6T>C
|
rs1565465980
|
|
NM_000051.4(ATM):c.4777-7C>G
|
rs1565465976
|
|
NM_000051.4(ATM):c.4777-7C>T
|
rs1565465976
|
|
NM_000051.4(ATM):c.4777-7_4777-6del
|
rs1064794458
|
|
NM_000051.4(ATM):c.4777-9C>T
|
rs1214975942
|
|
NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)
|
|
|
NM_000051.4(ATM):c.477A>G (p.Ile159Met)
|
rs786202644
|
|
NM_000051.4(ATM):c.4780A>G (p.Ile1594Val)
|
rs1555101615
|
|
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr)
|
rs1555101621
|
|
NM_000051.4(ATM):c.4782T>G (p.Ile1594Met)
|
rs2135833642
|
|
NM_000051.4(ATM):c.4782del (p.Asn1595fs)
|
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.4785C>A (p.Asn1595Lys)
|
rs2135833730
|
|
NM_000051.4(ATM):c.4786C>G (p.His1596Asp)
|
rs1555101635
|
|
NM_000051.4(ATM):c.4787A>G (p.His1596Arg)
|
rs2135833806
|
|
NM_000051.4(ATM):c.478T>G (p.Ser160Ala)
|
rs761170769
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4790T>G (p.Phe1597Cys)
|
rs2083034224
|
|
NM_000051.4(ATM):c.4794C>G (p.Leu1598=)
|
|
|
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
|
|
|
NM_000051.4(ATM):c.4796C>G (p.Ser1599Ter)
|
rs1591684337
|
|
NM_000051.4(ATM):c.4796C>T (p.Ser1599Leu)
|
|
|
NM_000051.4(ATM):c.4797A>C (p.Ser1599=)
|
rs1371876868
|
|
NM_000051.4(ATM):c.4798G>A (p.Val1600Ile)
|
rs2135834139
|
|
NM_000051.4(ATM):c.4798G>T (p.Val1600Leu)
|
rs2135834139
|
|
NM_000051.4(ATM):c.4798del (p.Ser1599_Val1600insTer)
|
rs2135834179
|
|
NM_000051.4(ATM):c.4799T>A (p.Val1600Glu)
|
rs1591684386
|
|
NM_000051.4(ATM):c.4799T>C (p.Val1600Ala)
|
rs1591684386
|
|
NM_000051.4(ATM):c.4799dup (p.Ser1601fs)
|
rs2135834235
|
|
NM_000051.4(ATM):c.479C>T (p.Ser160Phe)
|
rs35858242
|
|
NM_000051.4(ATM):c.4800A>T (p.Val1600=)
|
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly)
|
rs876660520
|
|
NM_000051.4(ATM):c.4801del (p.Ser1601fs)
|
|
|
NM_000051.4(ATM):c.4801dup (p.Ser1601fs)
|
|
|
NM_000051.4(ATM):c.4802G>C (p.Ser1601Thr)
|
rs587782506
|
|
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)
|
rs964364958
|
|
NM_000051.4(ATM):c.4804G>T (p.Val1602Phe)
|
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4805T>G (p.Val1602Gly)
|
|
|
NM_000051.4(ATM):c.4806T>C (p.Val1602=)
|
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
NM_000051.4(ATM):c.4807T>G (p.Tyr1603Asp)
|
rs994121421
|
|
NM_000051.4(ATM):c.4808A>G (p.Tyr1603Cys)
|
|
|
NM_000051.4(ATM):c.4809T>C (p.Tyr1603=)
|
|
|
NM_000051.4(ATM):c.480T>A (p.Ser160=)
|
rs2135125892
|
|
NM_000051.4(ATM):c.480T>C (p.Ser160=)
|
rs2135125892
|
|
NM_000051.4(ATM):c.480_482dup (p.Ser160_Gln161insHis)
|
|
|
NM_000051.4(ATM):c.4811A>G (p.Asp1604Gly)
|
rs1591684476
|
|
NM_000051.4(ATM):c.4813G>A (p.Ala1605Thr)
|
rs1555101706
|
|
NM_000051.4(ATM):c.4813G>T (p.Ala1605Ser)
|
|
|
NM_000051.4(ATM):c.4814C>A (p.Ala1605Glu)
|
|
|
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)
|
rs786203520
|
|
NM_000051.4(ATM):c.4815A>C (p.Ala1605=)
|
rs1591684513
|
|
NM_000051.4(ATM):c.4815A>G (p.Ala1605=)
|
|
|
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe)
|
rs746103632
|
|
NM_000051.4(ATM):c.4817T>G (p.Leu1606Arg)
|
rs1555101727
|
|
NM_000051.4(ATM):c.4818T>C (p.Leu1606=)
|
rs772074468
|
|
NM_000051.4(ATM):c.4819C>A (p.Pro1607Thr)
|
rs1178015475
|
|
NM_000051.4(ATM):c.4819C>G (p.Pro1607Ala)
|
|
|
NM_000051.4(ATM):c.481C>G (p.Gln161Glu)
|
|
|
NM_000051.4(ATM):c.4820C>G (p.Pro1607Arg)
|
rs864622462
|
|
NM_000051.4(ATM):c.4820C>T (p.Pro1607Leu)
|
rs864622462
|
|
NM_000051.4(ATM):c.4820del (p.Pro1607fs)
|
rs2135834949
|
|
NM_000051.4(ATM):c.4824G>A (p.Leu1608=)
|
rs1239479673
|
|
NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala)
|
rs761197886
|
|
NM_000051.4(ATM):c.4826C>T (p.Thr1609Ile)
|
|
|
NM_000051.4(ATM):c.4827A>T (p.Thr1609=)
|
|
|
NM_000051.4(ATM):c.4828A>C (p.Arg1610=)
|
|
|
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.4830A>G (p.Arg1610=)
|
|
|
NM_000051.4(ATM):c.4830A>T (p.Arg1610Ser)
|
|
|
NM_000051.4(ATM):c.4831C>G (p.Leu1611Val)
|
rs1026156596
|
|
NM_000051.4(ATM):c.4831C>T (p.Leu1611Phe)
|
rs1026156596
|
|
NM_000051.4(ATM):c.4832T>C (p.Leu1611Pro)
|
|
|
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4833T>C (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4833T>G (p.Leu1611=)
|
rs769025179
|
|
NM_000051.4(ATM):c.4834G>C (p.Glu1612Gln)
|
|
|
NM_000051.4(ATM):c.4835A>C (p.Glu1612Ala)
|
rs1555101776
|
|
NM_000051.4(ATM):c.4836A>G (p.Glu1612=)
|
rs2135835525
|
|
NM_000051.4(ATM):c.4838G>C (p.Gly1613Ala)
|
rs2083038889
|
|
NM_000051.4(ATM):c.4838G>T (p.Gly1613Val)
|
rs2083038889
|
|
NM_000051.4(ATM):c.483G>A (p.Gln161=)
|
rs864622742
|
|
NM_000051.4(ATM):c.483G>C (p.Gln161His)
|
rs864622742
|
|
NM_000051.4(ATM):c.483G>T (p.Gln161His)
|
rs864622742
|
|
NM_000051.4(ATM):c.4840C>T (p.Leu1614=)
|
rs777239020
|
|
NM_000051.4(ATM):c.4840del (p.Gly1613_Leu1614insTer)
|
rs2083039160
|
|
NM_000051.4(ATM):c.4842A>G (p.Leu1614=)
|
rs1057520429
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
NM_000051.4(ATM):c.4843A>G (p.Lys1615Glu)
|
|
|
NM_000051.4(ATM):c.4844A>C (p.Lys1615Thr)
|
rs867309383
|
|
NM_000051.4(ATM):c.4844del (p.Lys1615fs)
|
rs1555101791
|
|
NM_000051.4(ATM):c.4845G>C (p.Lys1615Asn)
|
rs888498126
|
|
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn)
|
rs888498126
|
|
NM_000051.4(ATM):c.4847A>T (p.Asp1616Val)
|
rs1591684782
|
|
NM_000051.4(ATM):c.4848T>A (p.Asp1616Glu)
|
rs2083040302
|
|
NM_000051.4(ATM):c.4848T>C (p.Asp1616=)
|
rs2083040302
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
NM_000051.4(ATM):c.4850T>C (p.Leu1617Pro)
|
rs2083040595
|
|
NM_000051.4(ATM):c.4851T>C (p.Leu1617=)
|
|
|
NM_000051.4(ATM):c.4852C>G (p.Arg1618Gly)
|
rs762083530
|
|
NM_000051.4(ATM):c.4853G>T (p.Arg1618Leu)
|
rs765759912
|
|
NM_000051.4(ATM):c.4854A>T (p.Arg1618=)
|
|
|
NM_000051.4(ATM):c.4855A>G (p.Arg1619Gly)
|
rs1555101835
|
|
NM_000051.4(ATM):c.4857A>G (p.Arg1619=)
|
rs1555101850
|
|
NM_000051.4(ATM):c.4858C>G (p.Gln1620Glu)
|
|
|
NM_000051.4(ATM):c.4858C>T (p.Gln1620Ter)
|
|
|
NM_000051.4(ATM):c.485A>G (p.Gln162Arg)
|
rs1285593159
|
|
NM_000051.4(ATM):c.4860A>G (p.Gln1620=)
|
rs1057520446
|
|
NM_000051.4(ATM):c.4860A>T (p.Gln1620His)
|
|
|
NM_000051.4(ATM):c.4861C>G (p.Leu1621Val)
|
|
|
NM_000051.4(ATM):c.4861C>T (p.Leu1621=)
|
rs759289039
|
|
NM_000051.4(ATM):c.4862T>A (p.Leu1621Gln)
|
rs1555101864
|
|
NM_000051.4(ATM):c.4862T>G (p.Leu1621Arg)
|
|
|
NM_000051.4(ATM):c.4863G>A (p.Leu1621=)
|
|
|
NM_000051.4(ATM):c.4863G>C (p.Leu1621=)
|
rs2135836530
|
|
NM_000051.4(ATM):c.4864G>C (p.Glu1622Gln)
|
rs2083042425
|
|
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
|
|
|
NM_000051.4(ATM):c.4864del (p.Glu1622fs)
|
rs2083042256
|
|
NM_000051.4(ATM):c.4865A>G (p.Glu1622Gly)
|
rs1555101872
|
|
NM_000051.4(ATM):c.4866A>G (p.Glu1622=)
|
rs2135836682
|
|
NM_000051.4(ATM):c.4867C>T (p.Leu1623=)
|
|
|
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
NM_000051.4(ATM):c.4868T>G (p.Leu1623Arg)
|
|
|
NM_000051.4(ATM):c.4869A>C (p.Leu1623=)
|
rs767084038
|
|
NM_000051.4(ATM):c.4869A>G (p.Leu1623=)
|
rs767084038
|
|
NM_000051.4(ATM):c.486A>G (p.Gln162=)
|
|
|
NM_000051.4(ATM):c.486del (p.Gln162fs)
|
rs2079247626
|
|
NM_000051.4(ATM):c.4870C>A (p.His1624Asn)
|
rs1591684971
|
|
NM_000051.4(ATM):c.4871A>C (p.His1624Pro)
|
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
NM_000051.4(ATM):c.4874A>G (p.Lys1625Arg)
|
rs1591685009
|
|
NM_000051.4(ATM):c.4876G>T (p.Asp1626Tyr)
|
|
|
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys)
|
rs886039592
|
|
NM_000051.4(ATM):c.4879C>G (p.Gln1627Glu)
|
|
|
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)
|
rs886039592
|
|
NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs)
|
|
|
NM_000051.4(ATM):c.4879del (p.Gln1627fs)
|
rs2135837254
|
|
NM_000051.4(ATM):c.487C>G (p.Gln163Glu)
|
rs1591475608
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg)
|
rs786203857
|
|
NM_000051.4(ATM):c.4881G>A (p.Gln1627=)
|
|
|
NM_000051.4(ATM):c.4882A>G (p.Met1628Val)
|
rs1591685091
|
|
NM_000051.4(ATM):c.4882A>T (p.Met1628Leu)
|
rs1591685091
|
|
NM_000051.4(ATM):c.4883T>C (p.Met1628Thr)
|
|
|
NM_000051.4(ATM):c.4884G>T (p.Met1628Ile)
|
rs2083044750
|
|
NM_000051.4(ATM):c.4885G>A (p.Val1629Met)
|
rs876660748
|
|
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu)
|
rs876660748
|
|
NM_000051.4(ATM):c.4885dup (p.Val1629fs)
|
rs1555101915
|
|
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
|
|
|
NM_000051.4(ATM):c.4887G>T (p.Val1629=)
|
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.4888dup (p.Asp1630fs)
|
|
|
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)
|
rs1565466579
|
|
NM_000051.4(ATM):c.4889_4901dup (p.Ser1635fs)
|
rs1565466585
|
|
NM_000051.4(ATM):c.4890C>T (p.Asp1630=)
|
rs1591685165
|
|
NM_000051.4(ATM):c.4891A>G (p.Ile1631Val)
|
|
|
NM_000051.4(ATM):c.4891A>T (p.Ile1631Phe)
|
rs2135837721
|
|
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser)
|
rs1060501674
|
|
NM_000051.4(ATM):c.4893T>A (p.Ile1631=)
|
rs1591685188
|
|
NM_000051.4(ATM):c.4893T>C (p.Ile1631=)
|
|
|
NM_000051.4(ATM):c.4894A>G (p.Met1632Val)
|
rs1060501709
|
|
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile)
|
rs933030670
|
|
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly)
|
rs1591685231
|
|
NM_000051.4(ATM):c.4897A>T (p.Arg1633Ter)
|
|
|
NM_000051.4(ATM):c.4898G>C (p.Arg1633Thr)
|
|
|
NM_000051.4(ATM):c.4898G>T (p.Arg1633Ile)
|
rs1555101943
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
NM_000051.4(ATM):c.489G>C (p.Gln163His)
|
rs1057523087
|
|
NM_000051.4(ATM):c.489G>T (p.Gln163His)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr)
|
rs1565466632
|
|
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs)
|
rs1591685276
|
|
NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)
|
|
|
NM_000051.4(ATM):c.4902T>C (p.Ala1634=)
|
rs2135838120
|
|
NM_000051.4(ATM):c.4902T>G (p.Ala1634=)
|
|
|
NM_000051.4(ATM):c.4903T>G (p.Ser1635Ala)
|
rs535266558
|
|
NM_000051.4(ATM):c.4903_4905del (p.Ser1635del)
|
rs2135838090
|
|
NM_000051.4(ATM):c.4904C>A (p.Ser1635Tyr)
|
rs2083047150
|
|
NM_000051.4(ATM):c.4905_4909+16del
|
|
|
NM_000051.4(ATM):c.4906C>G (p.Gln1636Glu)
|
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
NM_000051.4(ATM):c.4909+10T>G
|
rs2135838699
|
|
NM_000051.4(ATM):c.4909+11T>A
|
|
|
NM_000051.4(ATM):c.4909+11T>C
|
|
|
NM_000051.4(ATM):c.4909+14A>G
|
|
|
NM_000051.4(ATM):c.4909+14A>T
|
|
|
NM_000051.4(ATM):c.4909+15T>A
|
|
|
NM_000051.4(ATM):c.4909+17A>G
|
rs550300834
|
|
NM_000051.4(ATM):c.4909+18C>T
|
|
|
NM_000051.4(ATM):c.4909+19A>G
|
|
|
NM_000051.4(ATM):c.4909+19A>T
|
rs747032236
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
NM_000051.4(ATM):c.4909+20T>C
|
rs1401279002
|
|
NM_000051.4(ATM):c.4909+4C>G
|
|
|
NM_000051.4(ATM):c.4909+5T>C
|
rs2083048367
|
|
NM_000051.4(ATM):c.4909+6A>G
|
rs2083048548
|
|
NM_000051.4(ATM):c.4909+7A>G
|
rs2135838624
|
|
NM_000051.4(ATM):c.4909+8T>C
|
|
|
NM_000051.4(ATM):c.4909+8T>G
|
|
|
NM_000051.4(ATM):c.4909+9T>G
|
rs1555101970
|
|
NM_000051.4(ATM):c.4909G>A (p.Asp1637Asn)
|
rs753870656
|
|
NM_000051.4(ATM):c.4909G>C (p.Asp1637His)
|
|
|
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr)
|
rs753870656
|
|
NM_000051.4(ATM):c.490T>C (p.Trp164Arg)
|
rs1060501699
|
|
NM_000051.4(ATM):c.490_496del (p.Trp164fs)
|
|
|
NM_000051.4(ATM):c.4910-10T>C
|
rs2083173059
|
|
NM_000051.4(ATM):c.4910-10T>G
|
rs2083173059
|
|
NM_000051.4(ATM):c.4910-11A>T
|
|
|
NM_000051.4(ATM):c.4910-11dup
|
rs2135860579
|
|
NM_000051.4(ATM):c.4910-14A>C
|
|
|
NM_000051.4(ATM):c.4910-16_4910-5delinsTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGATTATCTAGAAATAATTTTTTAAAAATTAGTTTAAA
|
|
|
NM_000051.4(ATM):c.4910-17T>G
|
rs1238547320
|
|
NM_000051.4(ATM):c.4910-1G>C
|
rs1060501706
|
|
NM_000051.4(ATM):c.4910-1G>T
|
rs1060501706
|
|
NM_000051.4(ATM):c.4910-1_4910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTATTTCTAG
|
|
|
NM_000051.4(ATM):c.4910-2A>C
|
rs1555103156
|
|
NM_000051.4(ATM):c.4910-2A>G
|
rs1555103156
|
|
NM_000051.4(ATM):c.4910-2A>T
|
rs1555103156
|
|
NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC
|
rs2135857103
|
|
NM_000051.4(ATM):c.4910-5del
|
rs2083173551
|
|
NM_000051.4(ATM):c.4910-6T>G
|
rs878853513
|
|
NM_000051.4(ATM):c.4910-7T>A
|
rs3092872
|
|
NM_000051.4(ATM):c.4910-7T>C
|
rs3092872
|
|
NM_000051.4(ATM):c.4910-891G>A
|
|
|
NM_000051.4(ATM):c.4910-8A>G
|
rs1555103144
|
|
NM_000051.4(ATM):c.4910-942G>T
|
|
|
NM_000051.4(ATM):c.4910-9T>C
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr)
|
rs1565469722
|
|
NM_000051.4(ATM):c.4915C>G (p.Pro1639Ala)
|
rs1565469722
|
|
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser)
|
rs1565469722
|
|
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg)
|
rs752459491
|
|
NM_000051.4(ATM):c.4916del (p.Pro1639fs)
|
rs2083174891
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4917G>C (p.Pro1639=)
|
|
|
NM_000051.4(ATM):c.4917G>T (p.Pro1639=)
|
rs140425622
|
|
NM_000051.4(ATM):c.4918C>T (p.Gln1640Ter)
|
|
|
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro)
|
rs1555103190
|
|
NM_000051.4(ATM):c.4919A>G (p.Gln1640Arg)
|
rs1555103190
|
|
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
|
|
|
NM_000051.4(ATM):c.4921G>A (p.Asp1641Asn)
|
|
|
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly)
|
|
|
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg)
|
rs2135861446
|
|
NM_000051.4(ATM):c.4924G>C (p.Gly1642Arg)
|
|
|
NM_000051.4(ATM):c.4925G>A (p.Gly1642Glu)
|
|
|
NM_000051.4(ATM):c.4925G>C (p.Gly1642Ala)
|
|
|
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)
|
|
|
NM_000051.4(ATM):c.4928T>A (p.Ile1643Asn)
|
rs1555103201
|
|
NM_000051.4(ATM):c.4929T>A (p.Ile1643=)
|
rs2135861750
|
|
NM_000051.4(ATM):c.4929del (p.Met1644fs)
|
rs2083175858
|
|
NM_000051.4(ATM):c.492G>A (p.Trp164Ter)
|
rs1555059530
|
|
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)
|
rs1555059530
|
|
NM_000051.4(ATM):c.492dup (p.Leu165fs)
|
rs1555059513
|
|
NM_000051.4(ATM):c.4930A>G (p.Met1644Val)
|
rs1591692514
|
|
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr)
|
rs55843558
|
|
NM_000051.4(ATM):c.4932G>A (p.Met1644Ile)
|
rs730881371
|
|
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile)
|
rs730881371
|
|
NM_000051.4(ATM):c.4933G>C (p.Val1645Leu)
|
rs757381170
|
|
NM_000051.4(ATM):c.4933G>T (p.Val1645Leu)
|
rs757381170
|
|
NM_000051.4(ATM):c.4933del (p.Met1644_Val1645insTer)
|
rs2135861869
|
|
NM_000051.4(ATM):c.4935G>A (p.Val1645=)
|
|
|
NM_000051.4(ATM):c.4935G>C (p.Val1645=)
|
|
|
NM_000051.4(ATM):c.4936A>C (p.Lys1646Gln)
|
rs2135861949
|
|
NM_000051.4(ATM):c.4938A>C (p.Lys1646Asn)
|
|
|
NM_000051.4(ATM):c.4938A>G (p.Lys1646=)
|
rs1171877755
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.4939C>T (p.Leu1647=)
|
rs1157451668
|
|
NM_000051.4(ATM):c.493T>A (p.Leu165Ile)
|
rs878853514
|
|
NM_000051.4(ATM):c.493T>G (p.Leu165Val)
|
rs878853514
|
|
NM_000051.4(ATM):c.4940T>A (p.Leu1647Gln)
|
|
|
NM_000051.4(ATM):c.4941A>G (p.Leu1647=)
|
rs786201667
|
|
NM_000051.4(ATM):c.4941A>T (p.Leu1647=)
|
|
|
NM_000051.4(ATM):c.4941_4943del (p.Val1649del)
|
rs1591692664
|
|
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala)
|
rs997081415
|
|
NM_000051.4(ATM):c.4944_4946del (p.Val1649del)
|
rs2135862163
|
|
NM_000051.4(ATM):c.4945G>A (p.Val1649Ile)
|
rs1565469893
|
|
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp)
|
rs2135862254
|
|
NM_000051.4(ATM):c.4947C>A (p.Val1649=)
|
|
|
NM_000051.4(ATM):c.4947C>G (p.Val1649=)
|
rs1436324961
|
|
NM_000051.4(ATM):c.4948A>C (p.Asn1650His)
|
|
|
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr)
|
rs55870064
|
|
NM_000051.4(ATM):c.494T>G (p.Leu165Ter)
|
rs2079249238
|
|
NM_000051.4(ATM):c.4951T>A (p.Leu1651Met)
|
|
|
NM_000051.4(ATM):c.4952T>C (p.Leu1651Ser)
|
rs1555103237
|
|
NM_000051.4(ATM):c.4952T>G (p.Leu1651Trp)
|
rs1555103237
|
|
NM_000051.4(ATM):c.4953G>A (p.Leu1651=)
|
rs786201297
|
|
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe)
|
rs786201297
|
|
NM_000051.4(ATM):c.4956G>A (p.Leu1652=)
|
rs2135862508
|
|
NM_000051.4(ATM):c.4957C>G (p.Gln1653Glu)
|
rs1565469955
|
|
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)
|
rs1565469955
|
|
NM_000051.4(ATM):c.4957_4958del (p.Gln1653fs)
|
rs2135862582
|
|
NM_000051.4(ATM):c.4958_4959insTAAC (p.Gln1653fs)
|
rs2083178407
|
|
NM_000051.4(ATM):c.495A>C (p.Leu165Phe)
|
rs1555059544
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.495dup (p.Glu166fs)
|
|
|
NM_000051.4(ATM):c.496+11A>C
|
|
|
NM_000051.4(ATM):c.496+11A>G
|
|
|
NM_000051.4(ATM):c.496+14G>C
|
rs776887214
|
|
NM_000051.4(ATM):c.496+14GTT[2]
|
rs1330640039
|
|
NM_000051.4(ATM):c.496+16T>C
|
|
|
NM_000051.4(ATM):c.496+17G>T
|
|
|
NM_000051.4(ATM):c.496+18T>C
|
rs762171014
|
|
NM_000051.4(ATM):c.496+19T>G
|
|
|
NM_000051.4(ATM):c.496+1G>A
|
rs876658500
|
|
NM_000051.4(ATM):c.496+1G>C
|
rs876658500
|
|
NM_000051.4(ATM):c.496+20G>A
|
rs751245102
|
|
NM_000051.4(ATM):c.496+20G>T
|
rs751245102
|
|
NM_000051.4(ATM):c.496+286A>G
|
|
|
NM_000051.4(ATM):c.496+2T>G
|
rs2079249834
|
|
NM_000051.4(ATM):c.496+334A>G
|
|
|
NM_000051.4(ATM):c.496+4T>A
|
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.496+7T>G
|
rs2135126753
|
|
NM_000051.4(ATM):c.496+8T>C
|
rs2135126803
|
|
NM_000051.4(ATM):c.496+9T>C
|
|
|
NM_000051.4(ATM):c.496+9T>G
|
rs2135126833
|
|
NM_000051.4(ATM):c.4960T>C (p.Leu1654=)
|
|
|
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser)
|
rs587781679
|
|
NM_000051.4(ATM):c.4962A>G (p.Leu1654=)
|
rs2135862796
|
|
NM_000051.4(ATM):c.4963T>G (p.Ser1655Ala)
|
rs1376280581
|
|
NM_000051.4(ATM):c.4964C>T (p.Ser1655Phe)
|
rs786201215
|
|
NM_000051.4(ATM):c.4965C>A (p.Ser1655=)
|
|
|
NM_000051.4(ATM):c.4965C>T (p.Ser1655=)
|
rs1555103252
|
|
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
|
|
|
NM_000051.4(ATM):c.4966A>C (p.Lys1656Gln)
|
rs1565470010
|
|
NM_000051.4(ATM):c.4966A>G (p.Lys1656Glu)
|
rs1565470010
|
|
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg)
|
rs2083179153
|
|
NM_000051.4(ATM):c.4968G>A (p.Lys1656=)
|
|
|
NM_000051.4(ATM):c.4969A>C (p.Met1657Leu)
|
rs1060501656
|
|
NM_000051.4(ATM):c.4969A>G (p.Met1657Val)
|
rs1060501656
|
|
NM_000051.4(ATM):c.4969A>T (p.Met1657Leu)
|
rs1060501656
|
|
NM_000051.4(ATM):c.496G>A (p.Glu166Lys)
|
rs1565357473
|
|
NM_000051.4(ATM):c.496G>C (p.Glu166Gln)
|
rs1565357473
|
|
NM_000051.4(ATM):c.496G>T (p.Glu166Ter)
|
rs1565357473
|
|
NM_000051.4(ATM):c.497-1142dup
|
|
|
NM_000051.4(ATM):c.497-15T>A
|
|
|
NM_000051.4(ATM):c.497-18T>C
|
rs1555066191
|
|
NM_000051.4(ATM):c.497-19A>G
|
rs894871243
|
|
NM_000051.4(ATM):c.497-1G>C
|
rs778624615
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.497-20A>T
|
rs2079692832
|
|
NM_000051.4(ATM):c.497-2421_497-2418del
|
rs370425572
|
|
NM_000051.4(ATM):c.497-2661A>G
|
rs1591491477
|
|
NM_000051.4(ATM):c.497-2662AAG[3]
|
|
|
NM_000051.4(ATM):c.497-2A>G
|
|
|
NM_000051.4(ATM):c.497-2A>T
|
rs1278985870
|
|
NM_000051.4(ATM):c.497-2_498del
|
rs1591499502
|
|
NM_000051.4(ATM):c.497-2_499del
|
rs2079694684
|
|
NM_000051.4(ATM):c.497-3528_663-121del
|
|
|
NM_000051.4(ATM):c.497-3A>C
|
|
|
NM_000051.4(ATM):c.497-3A>G
|
rs1046559213
|
|
NM_000051.4(ATM):c.497-3A>T
|
rs1046559213
|
|
NM_000051.4(ATM):c.497-3_498del
|
rs1205233530
|
|
NM_000051.4(ATM):c.497-46T>C
|
|
|
NM_000051.4(ATM):c.497-4T>G
|
rs876659621
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
NM_000051.4(ATM):c.497-5T>A
|
|
|
NM_000051.4(ATM):c.497-5T>C
|
rs1591499452
|
|
NM_000051.4(ATM):c.497-5_497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.497-7T>A
|
|
|
NM_000051.4(ATM):c.497-7T>C
|
|
|
NM_000051.4(ATM):c.497-7T>G
|
|
|
NM_000051.4(ATM):c.497-7_497-4del
|
|
|
NM_000051.4(ATM):c.497-9T>G
|
rs2079693632
|
|
NM_000051.4(ATM):c.4970T>A (p.Met1657Lys)
|
rs1555103260
|
|
NM_000051.4(ATM):c.4971G>C (p.Met1657Ile)
|
|
|
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser)
|
rs372679141
|
|
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
|
|
|
NM_000051.4(ATM):c.4974A>G (p.Ala1658=)
|
|
|
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
|
|
|
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr)
|
rs1555103271
|
|
NM_000051.4(ATM):c.4976T>G (p.Ile1659Arg)
|
rs1555103271
|
|
NM_000051.4(ATM):c.4977A>C (p.Ile1659=)
|
|
|
NM_000051.4(ATM):c.4978A>C (p.Asn1660His)
|
|
|
NM_000051.4(ATM):c.4979A>T (p.Asn1660Ile)
|
rs2083180093
|
|
NM_000051.4(ATM):c.497A>G (p.Glu166Gly)
|
rs863224573
|
|
NM_000051.4(ATM):c.497A>T (p.Glu166Val)
|
rs863224573
|
|
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)
|
rs144338238
|
|
NM_000051.4(ATM):c.4981C>A (p.His1661Asn)
|
rs1591692950
|
|
NM_000051.4(ATM):c.4981C>T (p.His1661Tyr)
|
|
|
NM_000051.4(ATM):c.4982A>G (p.His1661Arg)
|
rs1555103285
|
|
NM_000051.4(ATM):c.4983C>G (p.His1661Gln)
|
|
|
NM_000051.4(ATM):c.4983C>T (p.His1661=)
|
rs2083180642
|
|
NM_000051.4(ATM):c.4984A>G (p.Thr1662Ala)
|
|
|
NM_000051.4(ATM):c.4985C>A (p.Thr1662Asn)
|
rs1591692969
|
|
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)
|
rs1591692969
|
|
NM_000051.4(ATM):c.4986T>A (p.Thr1662=)
|
rs2083180883
|
|
NM_000051.4(ATM):c.4986T>C (p.Thr1662=)
|
|
|
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)
|
rs1346404008
|
|
NM_000051.4(ATM):c.4987G>T (p.Gly1663Cys)
|
|
|
NM_000051.4(ATM):c.4988G>A (p.Gly1663Asp)
|
|
|
NM_000051.4(ATM):c.4988del (p.Gly1663fs)
|
rs1565470139
|
|
NM_000051.4(ATM):c.4989T>A (p.Gly1663=)
|
|
|
NM_000051.4(ATM):c.4989T>C (p.Gly1663=)
|
|
|
NM_000051.4(ATM):c.4989T>G (p.Gly1663=)
|
rs1591693006
|
|
NM_000051.4(ATM):c.498A>C (p.Glu166Asp)
|
rs587779842
|
|
NM_000051.4(ATM):c.498A>G (p.Glu166=)
|
rs587779842
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
NM_000051.4(ATM):c.4990G>A (p.Glu1664Lys)
|
rs1555103301
|
|
NM_000051.4(ATM):c.4990G>C (p.Glu1664Gln)
|
rs1555103301
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
NM_000051.4(ATM):c.4991A>G (p.Glu1664Gly)
|
rs2083181675
|
|
NM_000051.4(ATM):c.4994AAG[1] (p.Glu1666del)
|
rs876660918
|
|
NM_000051.4(ATM):c.4994_4999del (p.Lys1665_Val1667delinsIle)
|
|
|
NM_000051.4(ATM):c.4996G>A (p.Glu1666Lys)
|
|
|
NM_000051.4(ATM):c.4998A>G (p.Glu1666=)
|
|
|
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile)
|
rs780137734
|
|
NM_000051.4(ATM):c.4999G>C (p.Val1667Leu)
|
rs780137734
|
|
NM_000051.4(ATM):c.499T>C (p.Leu167=)
|
rs2135221733
|
|
NM_000051.4(ATM):c.49C>G (p.His17Asp)
|
rs876658161
|
|
NM_000051.4(ATM):c.4A>G (p.Ser2Gly)
|
rs1591445677
|
|
NM_000051.4(ATM):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly)
|
rs2135864002
|
|
NM_000051.4(ATM):c.5001T>G (p.Val1667=)
|
|
|
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile)
|
rs747317946
|
|
NM_000051.4(ATM):c.5002C>G (p.Leu1668Val)
|
rs747317946
|
|
NM_000051.4(ATM):c.5003T>C (p.Leu1668Pro)
|
|
|
NM_000051.4(ATM):c.5003T>G (p.Leu1668Arg)
|
|
|
NM_000051.4(ATM):c.5004A>G (p.Leu1668=)
|
rs768565424
|
|
NM_000051.4(ATM):c.5005+10A>G
|
rs2083183551
|
|
NM_000051.4(ATM):c.5005+10A>T
|
rs2083183551
|
|
NM_000051.4(ATM):c.5005+12T>A
|
rs2135864456
|
|
NM_000051.4(ATM):c.5005+14dup
|
|
|
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>A
|
rs200688912
|
|
NM_000051.4(ATM):c.5005+17C>T
|
rs200688912
|
|
NM_000051.4(ATM):c.5005+19C>G
|
rs1064794787
|
|
NM_000051.4(ATM):c.5005+19C>T
|
|
|
NM_000051.4(ATM):c.5005+1G>A
|
rs1057517427
|
|
NM_000051.4(ATM):c.5005+20T>C
|
|
|
NM_000051.4(ATM):c.5005+20T>G
|
|
|
NM_000051.4(ATM):c.5005+21G>A
|
|
|
NM_000051.4(ATM):c.5005+2T>G
|
rs2083182794
|
|
NM_000051.4(ATM):c.5005+302A>T
|
rs869312480
|
|
NM_000051.4(ATM):c.5005+42C>G
|
|
|
NM_000051.4(ATM):c.5005+86T>A
|
|
|
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys)
|
rs1591693095
|
|
NM_000051.4(ATM):c.5005G>C (p.Glu1669Gln)
|
|
|
NM_000051.4(ATM):c.5006-10C>T
|
rs2083315555
|
|
NM_000051.4(ATM):c.5006-12T>G
|
rs2083315314
|
|
NM_000051.4(ATM):c.5006-14A>C
|
rs2083314877
|
|
NM_000051.4(ATM):c.5006-14A>G
|
|
|
NM_000051.4(ATM):c.5006-14del
|
rs879254277
|
|
NM_000051.4(ATM):c.5006-15A>G
|
rs2083314552
|
|
NM_000051.4(ATM):c.5006-17A>G
|
|
|
NM_000051.4(ATM):c.5006-17A>T
|
|
|
NM_000051.4(ATM):c.5006-19A>G
|
|
|
NM_000051.4(ATM):c.5006-1G>A
|
rs1591701799
|
|
NM_000051.4(ATM):c.5006-2A>G
|
rs2135887733
|
|
NM_000051.4(ATM):c.5006-3T>A
|
rs761297488
|
|
NM_000051.4(ATM):c.5006-4G>A
|
rs1591701752
|
|
NM_000051.4(ATM):c.5006-4G>T
|
|
|
NM_000051.4(ATM):c.5006-50T>C
|
|
|
NM_000051.4(ATM):c.5006-5T>A
|
rs1555104475
|
|
NM_000051.4(ATM):c.5006-5T>C
|
|
|
NM_000051.4(ATM):c.5006-5T>G
|
|
|
NM_000051.4(ATM):c.5006-68T>G
|
rs3092906
|
|
NM_000051.4(ATM):c.5006-6A>G
|
rs1392301961
|
|
NM_000051.4(ATM):c.5006-8A>G
|
rs1057520447
|
|
NM_000051.4(ATM):c.5006-8A>T
|
rs1057520447
|
|
NM_000051.4(ATM):c.5006-9T>C
|
rs1565473375
|
|
NM_000051.4(ATM):c.5007G>C (p.Glu1669Asp)
|
rs2135887789
|
|
NM_000051.4(ATM):c.5008G>T (p.Ala1670Ser)
|
|
|
NM_000051.4(ATM):c.5010T>A (p.Ala1670=)
|
|
|
NM_000051.4(ATM):c.5010T>C (p.Ala1670=)
|
rs1555104482
|
|
NM_000051.4(ATM):c.5010T>G (p.Ala1670=)
|
rs1555104482
|
|
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5011G>C (p.Val1671Leu)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
NM_000051.4(ATM):c.5012T>C (p.Val1671Ala)
|
rs1361913028
|
|
NM_000051.4(ATM):c.5013T>A (p.Val1671=)
|
|
|
NM_000051.4(ATM):c.5013T>G (p.Val1671=)
|
|
|
NM_000051.4(ATM):c.5015del (p.Gly1672fs)
|
rs864622662
|
|
NM_000051.4(ATM):c.5016A>C (p.Gly1672=)
|
|
|
NM_000051.4(ATM):c.5016A>G (p.Gly1672=)
|
|
|
NM_000051.4(ATM):c.5016A>T (p.Gly1672=)
|
|
|
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.5018GCT[1] (p.Cys1674del)
|
rs1555104505
|
|
NM_000051.4(ATM):c.5019C>T (p.Ser1673=)
|
rs1565473483
|
|
NM_000051.4(ATM):c.501G>A (p.Leu167=)
|
rs1181703620
|
|
NM_000051.4(ATM):c.501G>T (p.Leu167Phe)
|
rs1181703620
|
|
NM_000051.4(ATM):c.501_503del (p.Leu167del)
|
rs1555066242
|
|
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg)
|
rs1555104511
|
|
NM_000051.4(ATM):c.5021G>A (p.Cys1674Tyr)
|
rs1555104518
|
|
NM_000051.4(ATM):c.5021G>T (p.Cys1674Phe)
|
rs1555104518
|
|
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp)
|
rs2083319473
|
|
NM_000051.4(ATM):c.5023T>C (p.Leu1675=)
|
rs876660275
|
|
NM_000051.4(ATM):c.5024T>C (p.Leu1675Ser)
|
|
|
NM_000051.4(ATM):c.5024T>G (p.Leu1675Trp)
|
|
|
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu)
|
rs1565473530
|
|
NM_000051.4(ATM):c.5028_5036del (p.Glu1677_Gly1679del)
|
rs1555104529
|
|
NM_000051.4(ATM):c.5028_5045del (p.Glu1677_Asp1682del)
|
rs2135888605
|
|
NM_000051.4(ATM):c.5028del (p.Glu1677fs)
|
|
|
NM_000051.4(ATM):c.502T>C (p.Phe168Leu)
|
rs1565369177
|
|
NM_000051.4(ATM):c.5031A>C (p.Glu1677Asp)
|
rs2083320477
|
|
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu)
|
rs878853516
|
|
NM_000051.4(ATM):c.5033T>G (p.Val1678Gly)
|
rs878853516
|
|
NM_000051.4(ATM):c.5034G>A (p.Val1678=)
|
|
|
NM_000051.4(ATM):c.5034G>C (p.Val1678=)
|
rs1555104548
|
|
NM_000051.4(ATM):c.5034_5035delinsTC (p.Gly1679Arg)
|
rs2083321272
|
|
NM_000051.4(ATM):c.5035G>A (p.Gly1679Ser)
|
|
|
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)
|
rs1064794124
|
|
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val)
|
rs1064794124
|
|
NM_000051.4(ATM):c.5038C>G (p.Pro1680Ala)
|
rs1565473572
|
|
NM_000051.4(ATM):c.5039C>G (p.Pro1680Arg)
|
rs587782153
|
|
NM_000051.4(ATM):c.503T>A (p.Phe168Tyr)
|
rs1591499616
|
|
NM_000051.4(ATM):c.503del (p.Phe168fs)
|
rs2135221867
|
|
NM_000051.4(ATM):c.5040T>G (p.Pro1680=)
|
|
|
NM_000051.4(ATM):c.5041A>G (p.Ile1681Val)
|
rs1298268285
|
|
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr)
|
rs1307715383
|
|
NM_000051.4(ATM):c.5042T>G (p.Ile1681Arg)
|
rs1307715383
|
|
NM_000051.4(ATM):c.5043A>C (p.Ile1681=)
|
|
|
NM_000051.4(ATM):c.5043A>G (p.Ile1681Met)
|
rs2083322309
|
|
NM_000051.4(ATM):c.5044G>A (p.Asp1682Asn)
|
rs121434217
|
|
NM_000051.4(ATM):c.5044G>C (p.Asp1682His)
|
rs121434217
|
|
NM_000051.4(ATM):c.5044G>T (p.Asp1682Tyr)
|
|
|
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly)
|
rs980731959
|
|
NM_000051.4(ATM):c.5045A>T (p.Asp1682Val)
|
rs980731959
|
|
NM_000051.4(ATM):c.5046T>C (p.Asp1682=)
|
rs2135889217
|
|
NM_000051.4(ATM):c.5048T>A (p.Phe1683Tyr)
|
rs2083322735
|
|
NM_000051.4(ATM):c.5048_5052del (p.Phe1683fs)
|
rs2135889257
|
|
NM_000051.4(ATM):c.504C>T (p.Phe168=)
|
rs1060504312
|
|
NM_000051.4(ATM):c.504del (p.Ser169fs)
|
|
|
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr)
|
rs1591702098
|
|
NM_000051.4(ATM):c.5051C>G (p.Ser1684Cys)
|
rs1565473651
|
|
NM_000051.4(ATM):c.5051C>T (p.Ser1684Phe)
|
rs1565473651
|
|
NM_000051.4(ATM):c.5052T>G (p.Ser1684=)
|
|
|
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.5053A>T (p.Thr1685Ser)
|
|
|
NM_000051.4(ATM):c.5058A>C (p.Ile1686=)
|
|
|
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr)
|
rs1555104597
|
|
NM_000051.4(ATM):c.5059G>T (p.Ala1687Ser)
|
rs1555104597
|
|
NM_000051.4(ATM):c.505_516del (p.Ser169_Phe172del)
|
rs2135221888
|
|
NM_000051.4(ATM):c.5060C>G (p.Ala1687Gly)
|
rs1591702201
|
|
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)
|
|
|
NM_000051.4(ATM):c.5061T>A (p.Ala1687=)
|
rs1555104600
|
|
NM_000051.4(ATM):c.5061T>G (p.Ala1687=)
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5063T>A (p.Ile1688Lys)
|
|
|
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg)
|
rs199836342
|
|
NM_000051.4(ATM):c.5064A>C (p.Ile1688=)
|
rs1565473763
|
|
NM_000051.4(ATM):c.5064A>G (p.Ile1688Met)
|
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
NM_000051.4(ATM):c.5066A>G (p.Gln1689Arg)
|
rs1555104616
|
|
NM_000051.4(ATM):c.5067A>G (p.Gln1689=)
|
rs1555104621
|
|
NM_000051.4(ATM):c.5068C>G (p.His1690Asp)
|
rs1591702291
|
|
NM_000051.4(ATM):c.506C>T (p.Ser169Phe)
|
rs587779843
|
|
NM_000051.4(ATM):c.5070T>C (p.His1690=)
|
rs1555104631
|
|
NM_000051.4(ATM):c.5070del (p.His1690fs)
|
rs2083325659
|
|
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly)
|
rs1800059
|
|
NM_000051.4(ATM):c.5072G>C (p.Ser1691Thr)
|
rs1064795911
|
|
NM_000051.4(ATM):c.5073T>G (p.Ser1691Arg)
|
|
|
NM_000051.4(ATM):c.5073_5074dup (p.Lys1692fs)
|
rs2083326327
|
|
NM_000051.4(ATM):c.5074A>G (p.Lys1692Glu)
|
rs2083326508
|
|
NM_000051.4(ATM):c.5076A>G (p.Lys1692=)
|
rs767841041
|
|
NM_000051.4(ATM):c.5076del (p.Asp1693fs)
|
rs1591702340
|
|
NM_000051.4(ATM):c.5077G>C (p.Asp1693His)
|
rs1591702362
|
|
NM_000051.4(ATM):c.5078A>T (p.Asp1693Val)
|
rs1591702387
|
|
NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly)
|
rs587782551
|
|
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val)
|
rs587782551
|
|
NM_000051.4(ATM):c.5082A>G (p.Ala1694=)
|
rs778014234
|
|
NM_000051.4(ATM):c.5082A>T (p.Ala1694=)
|
|
|
NM_000051.4(ATM):c.5084C>A (p.Ser1695Tyr)
|
|
|
NM_000051.4(ATM):c.5085T>G (p.Ser1695=)
|
rs2135890366
|
|
NM_000051.4(ATM):c.5086T>G (p.Tyr1696Asp)
|
rs1591702471
|
|
NM_000051.4(ATM):c.5087A>G (p.Tyr1696Cys)
|
rs1555104673
|
|
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe)
|
rs1555104673
|
|
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)
|
rs786203476
|
|
NM_000051.4(ATM):c.5088T>G (p.Tyr1696Ter)
|
rs786203476
|
|
NM_000051.4(ATM):c.5089A>C (p.Thr1697Pro)
|
rs142455912
|
|
NM_000051.4(ATM):c.508G>A (p.Val170Met)
|
rs786202781
|
|
NM_000051.4(ATM):c.508G>C (p.Val170Leu)
|
|
|
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.5092A>G (p.Lys1698Glu)
|
|
|
NM_000051.4(ATM):c.5093A>G (p.Lys1698Arg)
|
|
|
NM_000051.4(ATM):c.5093A>T (p.Lys1698Met)
|
rs1591702557
|
|
NM_000051.4(ATM):c.5093dup (p.Ala1699fs)
|
|
|
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
|
|
|
NM_000051.4(ATM):c.5096C>G (p.Ala1699Gly)
|
|
|
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val)
|
rs992234584
|
|
NM_000051.4(ATM):c.5097C>A (p.Ala1699=)
|
rs2135890740
|
|
NM_000051.4(ATM):c.5098C>T (p.Leu1700Phe)
|
rs2135890776
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
NM_000051.4(ATM):c.5099T>G (p.Leu1700Arg)
|
rs2135890816
|
|
NM_000051.4(ATM):c.50A>C (p.His17Pro)
|
|
|
NM_000051.4(ATM):c.50A>G (p.His17Arg)
|
rs1242444722
|
|
NM_000051.4(ATM):c.50_51del (p.His17fs)
|
rs775561876
|
|
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
|
|
|
NM_000051.4(ATM):c.5100dup (p.Lys1701Ter)
|
rs2135890847
|
|
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu)
|
rs746220021
|
|
NM_000051.4(ATM):c.5102A>C (p.Lys1701Thr)
|
rs2083330722
|
|
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)
|
rs1555104693
|
|
NM_000051.4(ATM):c.5103G>A (p.Lys1701=)
|
|
|
NM_000051.4(ATM):c.5106A>G (p.Leu1702=)
|
rs2083331055
|
|
NM_000051.4(ATM):c.5106A>T (p.Leu1702Phe)
|
|
|
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu)
|
rs1591702635
|
|
NM_000051.4(ATM):c.5107T>G (p.Phe1703Val)
|
|
|
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)
|
rs772376652
|
|
NM_000051.4(ATM):c.510G>C (p.Val170=)
|
rs375682557
|
|
NM_000051.4(ATM):c.510G>T (p.Val170=)
|
|
|
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)
|
rs1591499665
|
|
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly)
|
rs2083331490
|
|
NM_000051.4(ATM):c.5111A>T (p.Glu1704Val)
|
|
|
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn)
|
rs1565474013
|
|
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)
|
rs2083331705
|
|
NM_000051.4(ATM):c.5114A>T (p.Asp1705Val)
|
|
|
NM_000051.4(ATM):c.5115T>C (p.Asp1705=)
|
rs876658685
|
|
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu)
|
rs1291151519
|
|
NM_000051.4(ATM):c.5118A>G (p.Lys1706=)
|
rs3218672
|
|
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs)
|
rs1591702700
|
|
NM_000051.4(ATM):c.5119G>A (p.Glu1707Lys)
|
rs1565474056
|
|
NM_000051.4(ATM):c.5121A>G (p.Glu1707=)
|
rs2135891426
|
|
NM_000051.4(ATM):c.5122C>T (p.Leu1708Phe)
|
rs1555104730
|
|
NM_000051.4(ATM):c.5124T>G (p.Leu1708=)
|
rs864622668
|
|
NM_000051.4(ATM):c.5125C>T (p.Gln1709Ter)
|
|
|
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg)
|
rs587780627
|
|
NM_000051.4(ATM):c.5127G>A (p.Gln1709=)
|
rs1057521839
|
|
NM_000051.4(ATM):c.5127G>C (p.Gln1709His)
|
rs1057521839
|
|
NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)
|
|
|
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys)
|
rs1060501616
|
|
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe)
|
rs1060501616
|
|
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
|
|
|
NM_000051.4(ATM):c.5130G>T (p.Trp1710Cys)
|
rs780816003
|
|
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)
|
rs1057516358
|
|
NM_000051.4(ATM):c.5131A>G (p.Thr1711Ala)
|
|
|
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn)
|
rs1291016764
|
|
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile)
|
rs1291016764
|
|
NM_000051.4(ATM):c.5132_5139delinsAACCT (p.Thr1711_Ile1713delinsLysPro)
|
|
|
NM_000051.4(ATM):c.5133C>G (p.Thr1711=)
|
rs1357021067
|
|
NM_000051.4(ATM):c.5133C>T (p.Thr1711=)
|
rs1357021067
|
|
NM_000051.4(ATM):c.5134T>C (p.Phe1712Leu)
|
rs2135891932
|
|
NM_000051.4(ATM):c.5134_5136del (p.Phe1712del)
|
rs2135891905
|
|
NM_000051.4(ATM):c.5137A>G (p.Ile1713Val)
|
|
|
NM_000051.4(ATM):c.5139A>C (p.Ile1713=)
|
rs1233346885
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.513C>T (p.Tyr171=)
|
rs786201693
|
|
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg)
|
rs1591702873
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.5145G>C (p.Leu1715=)
|
|
|
NM_000051.4(ATM):c.5145G>T (p.Leu1715=)
|
|
|
NM_000051.4(ATM):c.5147C>T (p.Thr1716Ile)
|
|
|
NM_000051.4(ATM):c.5148dup (p.Tyr1717fs)
|
|
|
NM_000051.4(ATM):c.514T>C (p.Phe172Leu)
|
rs786201608
|
|
NM_000051.4(ATM):c.514T>G (p.Phe172Val)
|
|
|
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter)
|
rs1591702911
|
|
NM_000051.4(ATM):c.5151C>T (p.Tyr1717=)
|
rs1057523468
|
|
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)
|
|
|
NM_000051.4(ATM):c.5152C>T (p.Leu1718=)
|
|
|
NM_000051.4(ATM):c.5152_5160dup (p.Asn1720_Thr1721insLeuAsnAsn)
|
|
|
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln)
|
rs1555104784
|
|
NM_000051.4(ATM):c.5154G>A (p.Leu1718=)
|
rs1555104785
|
|
NM_000051.4(ATM):c.5155A>G (p.Asn1719Asp)
|
rs2083336312
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
NM_000051.4(ATM):c.5156A>T (p.Asn1719Ile)
|
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
NM_000051.4(ATM):c.5158A>G (p.Asn1720Asp)
|
rs2135892784
|
|
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys)
|
rs1565474287
|
|
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)
|
|
|
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile)
|
rs786203910
|
|
NM_000051.4(ATM):c.5162dup (p.Leu1722fs)
|
rs2083337165
|
|
NM_000051.4(ATM):c.5163A>G (p.Thr1721=)
|
rs1565474295
|
|
NM_000051.4(ATM):c.5163_5164del (p.Leu1722fs)
|
rs2083336878
|
|
NM_000051.4(ATM):c.5165T>C (p.Leu1722Pro)
|
|
|
NM_000051.4(ATM):c.5166_5168dup (p.Val1723_Glu1724insVal)
|
|
|
NM_000051.4(ATM):c.5167G>A (p.Val1723Ile)
|
rs1565474312
|
|
NM_000051.4(ATM):c.5167G>C (p.Val1723Leu)
|
|
|
NM_000051.4(ATM):c.5167del (p.Leu1722_Val1723insTer)
|
rs2135893101
|
|
NM_000051.4(ATM):c.5168T>C (p.Val1723Ala)
|
rs915337829
|
|
NM_000051.4(ATM):c.5169A>G (p.Val1723=)
|
rs2135893173
|
|
NM_000051.4(ATM):c.5169AGA[1] (p.Glu1724del)
|
|
|
NM_000051.4(ATM):c.516C>T (p.Phe172=)
|
rs1591499730
|
|
NM_000051.4(ATM):c.516_517delinsG (p.Phe172fs)
|
|
|
NM_000051.4(ATM):c.5170G>T (p.Glu1724Ter)
|
|
|
NM_000051.4(ATM):c.5171A>C (p.Glu1724Ala)
|
|
|
NM_000051.4(ATM):c.5171A>G (p.Glu1724Gly)
|
rs2135893191
|
|
NM_000051.4(ATM):c.5172dup (p.Asp1725fs)
|
rs2135893222
|
|
NM_000051.4(ATM):c.5173G>A (p.Asp1725Asn)
|
|
|
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr)
|
rs1555104799
|
|
NM_000051.4(ATM):c.5175T>C (p.Asp1725=)
|
rs1555104803
|
|
NM_000051.4(ATM):c.5177+10_5177+13del
|
|
|
NM_000051.4(ATM):c.5177+14G>C
|
rs2135893694
|
|
NM_000051.4(ATM):c.5177+15A>C
|
|
|
NM_000051.4(ATM):c.5177+16T>A
|
rs2135893735
|
|
NM_000051.4(ATM):c.5177+17A>C
|
|
|
NM_000051.4(ATM):c.5177+19C>A
|
|
|
NM_000051.4(ATM):c.5177+1G>A
|
rs1131691159
|
|
NM_000051.4(ATM):c.5177+1G>C
|
rs1131691159
|
|
NM_000051.4(ATM):c.5177+1del
|
rs2083338520
|
|
NM_000051.4(ATM):c.5177+20T>A
|
|
|
NM_000051.4(ATM):c.5177+20T>G
|
|
|
NM_000051.4(ATM):c.5177+2T>A
|
|
|
NM_000051.4(ATM):c.5177+2T>C
|
|
|
NM_000051.4(ATM):c.5177+3_5177+6del
|
|
|
NM_000051.4(ATM):c.5177+4A>C
|
rs2083338902
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5177+5G>T
|
rs759373136
|
|
NM_000051.4(ATM):c.5177+68A>G
|
rs558610972
|
|
NM_000051.4(ATM):c.5177+6T>A
|
rs1555104814
|
|
NM_000051.4(ATM):c.5177+7A>G
|
rs2135893538
|
|
NM_000051.4(ATM):c.5177+9T>C
|
rs767425639
|
|
NM_000051.4(ATM):c.5177G>T (p.Cys1726Phe)
|
rs2083338412
|
|
NM_000051.4(ATM):c.5178-10T>G
|
rs1565476613
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-11G>T
|
rs200876654
|
|
NM_000051.4(ATM):c.5178-11_5178-9del
|
|
|
NM_000051.4(ATM):c.5178-14A>G
|
|
|
NM_000051.4(ATM):c.5178-14del
|
|
|
NM_000051.4(ATM):c.5178-15A>C
|
|
|
NM_000051.4(ATM):c.5178-18T>C
|
rs1057522381
|
|
NM_000051.4(ATM):c.5178-18T>G
|
rs1057522381
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-1G>T
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-20A>G
|
rs1565476588
|
|
NM_000051.4(ATM):c.5178-2A>C
|
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
|
NM_000051.4(ATM):c.5178-3C>G
|
rs876658558
|
|
NM_000051.4(ATM):c.5178-3C>T
|
|
|
NM_000051.4(ATM):c.5178-3del
|
rs1555105575
|
|
NM_000051.4(ATM):c.5178-4del
|
rs747750958
|
|
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.5178-8T>G
|
rs2135911389
|
|
NM_000051.4(ATM):c.5178-9T>A
|
|
|
NM_000051.4(ATM):c.5178-9T>C
|
|
|
NM_000051.4(ATM):c.5178-9T>G
|
rs1555105562
|
|
NM_000051.4(ATM):c.5178-9_5202del
|
rs2135911351
|
|
NM_000051.4(ATM):c.5178T>C (p.Cys1726=)
|
|
|
NM_000051.4(ATM):c.5178del (p.Cys1726fs)
|
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
NM_000051.4(ATM):c.517A>C (p.Arg173=)
|
rs1591499740
|
|
NM_000051.4(ATM):c.5180T>A (p.Val1727Asp)
|
rs2083435874
|
|
NM_000051.4(ATM):c.5181C>T (p.Val1727=)
|
|
|
NM_000051.4(ATM):c.5184A>T (p.Lys1728Asn)
|
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
NM_000051.4(ATM):c.5185G>A (p.Val1729Ile)
|
|
|
NM_000051.4(ATM):c.5185del (p.Val1729fs)
|
rs1555105610
|
|
NM_000051.4(ATM):c.5186T>A (p.Val1729Asp)
|
|
|
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala)
|
rs1179068103
|
|
NM_000051.4(ATM):c.5188C>A (p.Arg1730=)
|
rs764389018
|
|
NM_000051.4(ATM):c.5188C>G (p.Arg1730Gly)
|
rs764389018
|
|
NM_000051.4(ATM):c.5189G>C (p.Arg1730Pro)
|
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.518G>C (p.Arg173Thr)
|
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
NM_000051.4(ATM):c.5190A>T (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.5192C>T (p.Ser1731Leu)
|
|
|
NM_000051.4(ATM):c.5193AGC[1] (p.Ala1733del)
|
rs2135912045
|
|
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr)
|
rs730881372
|
|
NM_000051.4(ATM):c.5194G>T (p.Ala1732Ser)
|
|
|
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)
|
rs1591708460
|
|
NM_000051.4(ATM):c.5197G>C (p.Ala1733Pro)
|
|
|
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)
|
|
|
NM_000051.4(ATM):c.519G>A (p.Arg173=)
|
|
|
NM_000051.4(ATM):c.519G>T (p.Arg173Ser)
|
rs587781391
|
|
NM_000051.4(ATM):c.519_520insTG (p.Leu174fs)
|
|
|
NM_000051.4(ATM):c.51T>C (p.His17=)
|
rs1591446045
|
|
NM_000051.4(ATM):c.5200del (p.Val1734fs)
|
rs2135912272
|
|
NM_000051.4(ATM):c.5201T>C (p.Val1734Ala)
|
|
|
NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs)
|
rs730881305
|
|
NM_000051.4(ATM):c.5202T>A (p.Val1734=)
|
|
|
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
|
|
|
NM_000051.4(ATM):c.5204C>G (p.Thr1735Ser)
|
rs1555105650
|
|
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile)
|
rs1555105650
|
|
NM_000051.4(ATM):c.5205C>A (p.Thr1735=)
|
rs1060504283
|
|
NM_000051.4(ATM):c.5205C>G (p.Thr1735=)
|
rs1060504283
|
|
NM_000051.4(ATM):c.5205C>T (p.Thr1735=)
|
|
|
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
|
|
|
NM_000051.4(ATM):c.5206T>G (p.Cys1736Gly)
|
|
|
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr)
|
rs1172318140
|
|
NM_000051.4(ATM):c.5208T>C (p.Cys1736=)
|
|
|
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs)
|
rs1555105660
|
|
NM_000051.4(ATM):c.520C>A (p.Leu174Ile)
|
rs1565369274
|
|
NM_000051.4(ATM):c.520C>T (p.Leu174Phe)
|
rs1565369274
|
|
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp)
|
rs1591708558
|
|
NM_000051.4(ATM):c.5210_5212delinsGT (p.Leu1737fs)
|
rs1591708568
|
|
NM_000051.4(ATM):c.5210del (p.Cys1736_Leu1737insTer)
|
|
|
NM_000051.4(ATM):c.5211_5222del (p.Lys1738_Leu1741del)
|
rs1591708546
|
|
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu)
|
rs1064793957
|
|
NM_000051.4(ATM):c.5212A>T (p.Lys1738Ter)
|
rs1064793957
|
|
NM_000051.4(ATM):c.5213A>G (p.Lys1738Arg)
|
|
|
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)
|
|
|
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)
|
|
|
NM_000051.4(ATM):c.5216_5218delinsCCT (p.Asn1739_Ile1740delinsThrPhe)
|
|
|
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)
|
rs876658271
|
|
NM_000051.4(ATM):c.5217_5231del (p.Asn1739_Thr1743del)
|
rs2135912726
|
|
NM_000051.4(ATM):c.5218A>C (p.Ile1740Leu)
|
rs1358200819
|
|
NM_000051.4(ATM):c.5218A>T (p.Ile1740Phe)
|
rs1358200819
|
|
NM_000051.4(ATM):c.5218_5225dup (p.Ala1742_Thr1743insPheTer)
|
|
|
NM_000051.4(ATM):c.5220T>C (p.Ile1740=)
|
|
|
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser)
|
rs750896881
|
|
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe)
|
rs1591708658
|
|
NM_000051.4(ATM):c.5225C>T (p.Ala1742Val)
|
|
|
NM_000051.4(ATM):c.5226C>T (p.Ala1742=)
|
rs750881004
|
|
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala)
|
rs758924620
|
|
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser)
|
rs758924620
|
|
NM_000051.4(ATM):c.5228C>A (p.Thr1743Lys)
|
rs587779844
|
|
NM_000051.4(ATM):c.5228C>G (p.Thr1743Arg)
|
rs587779844
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
NM_000051.4(ATM):c.522C>T (p.Leu174=)
|
rs780173724
|
|
NM_000051.4(ATM):c.5231A>G (p.Lys1744Arg)
|
|
|
NM_000051.4(ATM):c.5231dup (p.Thr1745fs)
|
|
|
NM_000051.4(ATM):c.5232G>A (p.Lys1744=)
|
rs2083440178
|
|
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn)
|
rs2083440178
|
|
NM_000051.4(ATM):c.5235T>A (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5235T>C (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5235T>G (p.Thr1745=)
|
rs1591708727
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu)
|
|
|
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val)
|
rs879254135
|
|
NM_000051.4(ATM):c.5238A>G (p.Gly1746=)
|
|
|
NM_000051.4(ATM):c.5239C>T (p.His1747Tyr)
|
|
|
NM_000051.4(ATM):c.523T>A (p.Tyr175Asn)
|
rs2079697425
|
|
NM_000051.4(ATM):c.523T>G (p.Tyr175Asp)
|
rs2079697425
|
|
NM_000051.4(ATM):c.5240A>G (p.His1747Arg)
|
rs1555105695
|
|
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg)
|
rs876658175
|
|
NM_000051.4(ATM):c.5242A>G (p.Ser1748Gly)
|
|
|
NM_000051.4(ATM):c.5243G>T (p.Ser1748Ile)
|
|
|
NM_000051.4(ATM):c.5244T>C (p.Ser1748=)
|
rs2083440966
|
|
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg)
|
rs2083440966
|
|
NM_000051.4(ATM):c.5246T>A (p.Phe1749Tyr)
|
rs1591708790
|
|
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser)
|
rs1591708790
|
|
NM_000051.4(ATM):c.5246T>G (p.Phe1749Cys)
|
rs1591708790
|
|
NM_000051.4(ATM):c.5247C>T (p.Phe1749=)
|
rs2083441197
|
|
NM_000051.4(ATM):c.5248T>C (p.Trp1750Arg)
|
|
|
NM_000051.4(ATM):c.5249G>A (p.Trp1750Ter)
|
rs1060501669
|
|
NM_000051.4(ATM):c.5249G>T (p.Trp1750Leu)
|
rs1060501669
|
|
NM_000051.4(ATM):c.524A>G (p.Tyr175Cys)
|
|
|
NM_000051.4(ATM):c.5250G>C (p.Trp1750Cys)
|
rs587779845
|
|
NM_000051.4(ATM):c.5253G>T (p.Glu1751Asp)
|
rs1370155496
|
|
NM_000051.4(ATM):c.5255T>C (p.Ile1752Thr)
|
rs2083441818
|
|
NM_000051.4(ATM):c.5255_5256insCT (p.Tyr1753fs)
|
rs2083441908
|
|
NM_000051.4(ATM):c.5256T>A (p.Ile1752=)
|
rs1555105718
|
|
NM_000051.4(ATM):c.5256T>C (p.Ile1752=)
|
rs1555105718
|
|
NM_000051.4(ATM):c.5256T>G (p.Ile1752Met)
|
|
|
NM_000051.4(ATM):c.5257T>C (p.Tyr1753His)
|
|
|
NM_000051.4(ATM):c.5257T>G (p.Tyr1753Asp)
|
|
|
NM_000051.4(ATM):c.5257del (p.Tyr1753fs)
|
|
|
NM_000051.4(ATM):c.5258A>C (p.Tyr1753Ser)
|
rs777481236
|
|
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys)
|
rs777481236
|
|
NM_000051.4(ATM):c.5259T>C (p.Tyr1753=)
|
|
|
NM_000051.4(ATM):c.525T>A (p.Tyr175Ter)
|
|
|
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter)
|
rs1363186839
|
|
NM_000051.4(ATM):c.5260A>G (p.Lys1754Glu)
|
|
|
NM_000051.4(ATM):c.5261A>G (p.Lys1754Arg)
|
|
|
NM_000051.4(ATM):c.5262G>A (p.Lys1754=)
|
rs748900588
|
|
NM_000051.4(ATM):c.5263A>G (p.Met1755Val)
|
rs876659150
|
|
NM_000051.4(ATM):c.5264T>A (p.Met1755Lys)
|
rs1555105739
|
|
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr)
|
rs1555105739
|
|
NM_000051.4(ATM):c.5265G>T (p.Met1755Ile)
|
rs1060501556
|
|
NM_000051.4(ATM):c.5265_5270delinsTTATAAGATTTATAAGAT (p.Met1755_Thr1757delinsIleTyrLysIleTyrLysIle)
|
rs2083442751
|
|
NM_000051.4(ATM):c.5265_5274del (p.Met1755fs)
|
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
NM_000051.4(ATM):c.5268A>G (p.Thr1756=)
|
rs1591708913
|
|
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)
|
rs1591708913
|
|
NM_000051.4(ATM):c.5269A>C (p.Thr1757Pro)
|
rs1591708923
|
|
NM_000051.4(ATM):c.5269A>G (p.Thr1757Ala)
|
rs1591708923
|
|
NM_000051.4(ATM):c.526C>A (p.Leu176Met)
|
rs375798802
|
|
NM_000051.4(ATM):c.526C>T (p.Leu176=)
|
rs375798802
|
|
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile)
|
rs587781575
|
|
NM_000051.4(ATM):c.5272G>C (p.Asp1758His)
|
rs1591708951
|
|
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu)
|
rs913665369
|
|
NM_000051.4(ATM):c.5276C>T (p.Pro1759Leu)
|
rs1565477222
|
|
NM_000051.4(ATM):c.5277A>T (p.Pro1759=)
|
rs2135914528
|
|
NM_000051.4(ATM):c.5278A>T (p.Met1760Leu)
|
rs151327241
|
|
NM_000051.4(ATM):c.5279T>A (p.Met1760Lys)
|
|
|
NM_000051.4(ATM):c.5279T>C (p.Met1760Thr)
|
|
|
NM_000051.4(ATM):c.5279dup (p.Met1760fs)
|
rs2135914599
|
|
NM_000051.4(ATM):c.527T>A (p.Leu176Gln)
|
rs1555066315
|
|
NM_000051.4(ATM):c.527T>C (p.Leu176Pro)
|
rs1555066315
|
|
NM_000051.4(ATM):c.5281C>G (p.Leu1761Val)
|
rs2083443935
|
|
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5283G>C (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5283G>T (p.Leu1761=)
|
|
|
NM_000051.4(ATM):c.5284G>A (p.Ala1762Thr)
|
rs2083444037
|
|
NM_000051.4(ATM):c.5285C>G (p.Ala1762Gly)
|
rs1272524343
|
|
NM_000051.4(ATM):c.5286C>T (p.Ala1762=)
|
|
|
NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs)
|
rs1591709001
|
|
NM_000051.4(ATM):c.5287_5288insTTTAGAACATCAAGAAAAAACTACATCAAGAACATCAAGAAC (p.Tyr1763delinsPheTer)
|
|
|
NM_000051.4(ATM):c.5288A>C (p.Tyr1763Ser)
|
rs1555105780
|
|
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys)
|
rs1555105780
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)
|
rs2135914733
|
|
NM_000051.4(ATM):c.5289T>C (p.Tyr1763=)
|
|
|
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val)
|
rs2083444552
|
|
NM_000051.4(ATM):c.5290C>T (p.Leu1764=)
|
|
|
NM_000051.4(ATM):c.5291T>G (p.Leu1764Arg)
|
rs2135915061
|
|
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)
|
rs786201703
|
|
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg)
|
rs35556390
|
|
NM_000051.4(ATM):c.5294A>T (p.Gln1765Leu)
|
|
|
NM_000051.4(ATM):c.5296C>T (p.Pro1766Ser)
|
|
|
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
|
|
|
NM_000051.4(ATM):c.5298T>G (p.Pro1766=)
|
|
|
NM_000051.4(ATM):c.52G>A (p.Asp18Asn)
|
rs2078809121
|
|
NM_000051.4(ATM):c.52G>C (p.Asp18His)
|
|
|
NM_000051.4(ATM):c.52G>T (p.Asp18Tyr)
|
|
|
NM_000051.4(ATM):c.52_54dup (p.Asp18dup)
|
rs2135005981
|
|
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser)
|
rs864622125
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)
|
rs1468101040
|
|
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
|
|
|
NM_000051.4(ATM):c.5303G>A (p.Arg1768Lys)
|
rs2083445472
|
|
NM_000051.4(ATM):c.5304A>G (p.Arg1768=)
|
rs1591709095
|
|
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys)
|
rs1192250974
|
|
NM_000051.4(ATM):c.5306C>T (p.Thr1769Ile)
|
|
|
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5309C>T (p.Ser1770Leu)
|
|
|
NM_000051.4(ATM):c.530A>G (p.Lys177Arg)
|
rs2135222838
|
|
NM_000051.4(ATM):c.5310A>C (p.Ser1770=)
|
|
|
NM_000051.4(ATM):c.5310A>T (p.Ser1770=)
|
|
|
NM_000051.4(ATM):c.5311A>G (p.Arg1771Gly)
|
rs1591709145
|
|
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys)
|
rs1416930012
|
|
NM_000051.4(ATM):c.5312G>C (p.Arg1771Thr)
|
rs1416930012
|
|
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
|
|
|
NM_000051.4(ATM):c.5313A>G (p.Arg1771=)
|
rs1591709164
|
|
NM_000051.4(ATM):c.5314A>G (p.Lys1772Glu)
|
rs1591709181
|
|
NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)
|
|
|
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)
|
|
|
NM_000051.4(ATM):c.5316A>G (p.Lys1772=)
|
|
|
NM_000051.4(ATM):c.5318A>G (p.Lys1773Arg)
|
rs2135915965
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5318dup (p.Phe1774fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5319+11T>G
|
|
|
NM_000051.4(ATM):c.5319+12_5319+55dup
|
|
|
NM_000051.4(ATM):c.5319+14T>C
|
|
|
NM_000051.4(ATM):c.5319+15A>C
|
rs2135916591
|
|
NM_000051.4(ATM):c.5319+15A>G
|
rs2135916591
|
|
NM_000051.4(ATM):c.5319+17A>G
|
rs1331649240
|
|
NM_000051.4(ATM):c.5319+1G>A
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+1_5319+10del
|
|
|
NM_000051.4(ATM):c.5319+1del
|
rs2135916021
|
|
NM_000051.4(ATM):c.5319+22del
|
rs2135916722
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5319+2T>G
|
rs1555105842
|
|
NM_000051.4(ATM):c.5319+3C>T
|
rs371640963
|
|
NM_000051.4(ATM):c.5319+3_5319+5del
|
|
|
NM_000051.4(ATM):c.5319+4T>A
|
rs1170957197
|
|
NM_000051.4(ATM):c.5319+4T>C
|
rs1170957197
|
|
NM_000051.4(ATM):c.5319+5C>G
|
rs1565477462
|
|
NM_000051.4(ATM):c.5319+5C>T
|
rs1565477462
|
|
NM_000051.4(ATM):c.5319+6_5319+7dup
|
rs2083447804
|
|
NM_000051.4(ATM):c.5319+6_5319+7insGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAATAAAATAAAAAAAAAGGTCTCT
|
rs2135915800
|
|
NM_000051.4(ATM):c.5319+7T>C
|
rs925428128
|
|
NM_000051.4(ATM):c.5319+9_5319+11delinsTTC
|
rs2135916413
|
|
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn)
|
rs2083446824
|
|
NM_000051.4(ATM):c.5319G>T (p.Lys1773Asn)
|
|
|
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG
|
rs1064792939
|
|
NM_000051.4(ATM):c.531dup (p.Pro178fs)
|
|
|
NM_000051.4(ATM):c.5320-10T>G
|
|
|
NM_000051.4(ATM):c.5320-11T>C
|
|
|
NM_000051.4(ATM):c.5320-12C>G
|
rs2083494676
|
|
NM_000051.4(ATM):c.5320-12C>T
|
|
|
NM_000051.4(ATM):c.5320-13C>A
|
|
|
NM_000051.4(ATM):c.5320-13C>T
|
rs1565478723
|
|
NM_000051.4(ATM):c.5320-14C>T
|
rs182663175
|
|
NM_000051.4(ATM):c.5320-18T>G
|
rs2083494233
|
|
NM_000051.4(ATM):c.5320-19del
|
|
|
NM_000051.4(ATM):c.5320-1G>C
|
rs2135926774
|
|
NM_000051.4(ATM):c.5320-20T>C
|
rs2135926264
|
|
NM_000051.4(ATM):c.5320-20T>G
|
|
|
NM_000051.4(ATM):c.5320-2A>C
|
rs1400417135
|
|
NM_000051.4(ATM):c.5320-2A>G
|
|
|
NM_000051.4(ATM):c.5320-3T>C
|
rs1346691984
|
|
NM_000051.4(ATM):c.5320-48A>G
|
|
|
NM_000051.4(ATM):c.5320-4C>A
|
|
|
NM_000051.4(ATM):c.5320-4_5323del
|
rs1057516540
|
|
NM_000051.4(ATM):c.5320-5T>C
|
rs1555106308
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5320-6_5320-3del
|
rs864622386
|
|
NM_000051.4(ATM):c.5320-7T>G
|
rs863224292
|
|
NM_000051.4(ATM):c.5320-8C>T
|
rs2083495309
|
|
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)
|
|
|
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer)
|
rs2083496327
|
|
NM_000051.4(ATM):c.5325A>C (p.Leu1775Phe)
|
rs2083496679
|
|
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5327A>T (p.Glu1776Val)
|
rs2083497029
|
|
NM_000051.4(ATM):c.5328A>G (p.Glu1776=)
|
|
|
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)
|
rs1064794192
|
|
NM_000051.4(ATM):c.5329_5331del (p.Val1777del)
|
rs2135927016
|
|
NM_000051.4(ATM):c.5329_5349dup (p.Val1777_Glu1783dup)
|
rs587779847
|
|
NM_000051.4(ATM):c.532C>A (p.Pro178Thr)
|
|
|
NM_000051.4(ATM):c.532C>T (p.Pro178Ser)
|
rs786201807
|
|
NM_000051.4(ATM):c.5330T>C (p.Val1777Ala)
|
rs1555106328
|
|
NM_000051.4(ATM):c.5331A>G (p.Val1777=)
|
|
|
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser)
|
rs1279041730
|
|
NM_000051.4(ATM):c.5333C>T (p.Pro1778Leu)
|
|
|
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
|
|
|
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)
|
|
|
NM_000051.4(ATM):c.5336G>T (p.Arg1779Ile)
|
|
|
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser)
|
rs369351803
|
|
NM_000051.4(ATM):c.5339T>A (p.Phe1780Tyr)
|
rs2083497990
|
|
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys)
|
rs2083497990
|
|
NM_000051.4(ATM):c.533C>T (p.Pro178Leu)
|
rs1591499842
|
|
NM_000051.4(ATM):c.5340del (p.Phe1780fs)
|
|
|
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu)
|
rs1591712154
|
|
NM_000051.4(ATM):c.5346A>C (p.Lys1782Asn)
|
rs1555106345
|
|
NM_000051.4(ATM):c.5346A>G (p.Lys1782=)
|
rs1555106345
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
NM_000051.4(ATM):c.5347G>A (p.Glu1783Lys)
|
rs2083498434
|
|
NM_000051.4(ATM):c.5347G>C (p.Glu1783Gln)
|
|
|
NM_000051.4(ATM):c.5347_5348dup (p.Asn1784fs)
|
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
NM_000051.4(ATM):c.5347_5351del (p.Glu1783fs)
|
|
|
NM_000051.4(ATM):c.5349A>G (p.Glu1783=)
|
rs1555106353
|
|
NM_000051.4(ATM):c.534T>C (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.534T>G (p.Pro178=)
|
rs1060504293
|
|
NM_000051.4(ATM):c.5350A>G (p.Asn1784Asp)
|
|
|
NM_000051.4(ATM):c.5351del (p.Asn1784fs)
|
rs1057517101
|
|
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala)
|
rs587779848
|
|
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)
|
rs1555106368
|
|
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)
|
rs1555106375
|
|
NM_000051.4(ATM):c.5357_5358del (p.Pro1785_Phe1786insTer)
|
|
|
NM_000051.4(ATM):c.5357_5358dup (p.Glu1787fs)
|
|
|
NM_000051.4(ATM):c.5358T>A (p.Phe1786Leu)
|
rs876659725
|
|
NM_000051.4(ATM):c.5358T>C (p.Phe1786=)
|
rs876659725
|
|
NM_000051.4(ATM):c.5363G>T (p.Gly1788Val)
|
rs2135927977
|
|
NM_000051.4(ATM):c.5365C>T (p.Leu1789=)
|
rs2135928017
|
|
NM_000051.4(ATM):c.5365del (p.Leu1789fs)
|
|
|
NM_000051.4(ATM):c.5368G>A (p.Asp1790Asn)
|
rs876658890
|
|
NM_000051.4(ATM):c.5368G>C (p.Asp1790His)
|
rs876658890
|
|
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val)
|
rs746945284
|
|
NM_000051.4(ATM):c.536C>T (p.Ser179Leu)
|
rs2079698324
|
|
NM_000051.4(ATM):c.5370T>A (p.Asp1790Glu)
|
rs1555106395
|
|
NM_000051.4(ATM):c.5371G>A (p.Asp1791Asn)
|
|
|
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly)
|
rs367987632
|
|
NM_000051.4(ATM):c.5373T>C (p.Asp1791=)
|
rs2135928197
|
|
NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs)
|
|
|
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val)
|
rs1555106405
|
|
NM_000051.4(ATM):c.5375T>G (p.Ile1792Arg)
|
rs776309355
|
|
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met)
|
rs1287734608
|
|
NM_000051.4(ATM):c.5376A>T (p.Ile1792=)
|
rs1287734608
|
|
NM_000051.4(ATM):c.5377A>C (p.Asn1793His)
|
rs730881374
|
|
NM_000051.4(ATM):c.5379T>C (p.Asn1793=)
|
|
|
NM_000051.4(ATM):c.537A>C (p.Ser179=)
|
rs1555066338
|
|
NM_000051.4(ATM):c.537A>T (p.Ser179=)
|
rs1555066338
|
|
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)
|
|
|
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val)
|
rs1591712398
|
|
NM_000051.4(ATM):c.5381T>G (p.Leu1794Arg)
|
|
|
NM_000051.4(ATM):c.5382del (p.Trp1795fs)
|
|
|
NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs)
|
rs1474055596
|
|
NM_000051.4(ATM):c.5385G>A (p.Trp1795Ter)
|
|
|
NM_000051.4(ATM):c.5385del (p.Leu1794_Trp1795insTer)
|
|
|
NM_000051.4(ATM):c.5386A>G (p.Ile1796Val)
|
|
|
NM_000051.4(ATM):c.5389C>A (p.Pro1797Thr)
|
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
NM_000051.4(ATM):c.5390C>T (p.Pro1797Leu)
|
rs2135928610
|
|
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)
|
rs879254274
|
|
NM_000051.4(ATM):c.5392C>T (p.Leu1798=)
|
rs879254274
|
|
NM_000051.4(ATM):c.5394A>G (p.Leu1798=)
|
rs2135928681
|
|
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly)
|
rs2083501896
|
|
NM_000051.4(ATM):c.5395dup (p.Ser1799fs)
|
rs1591712447
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
NM_000051.4(ATM):c.5398G>C (p.Glu1800Gln)
|
|
|
NM_000051.4(ATM):c.5399A>G (p.Glu1800Gly)
|
rs2083502112
|
|
NM_000051.4(ATM):c.539A>G (p.Gln180Arg)
|
rs730881334
|
|
NM_000051.4(ATM):c.539A>T (p.Gln180Leu)
|
rs730881334
|
|
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp)
|
rs2135928904
|
|
NM_000051.4(ATM):c.5400A>G (p.Glu1800=)
|
|
|
NM_000051.4(ATM):c.5401A>G (p.Asn1801Asp)
|
rs2083502328
|
|
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr)
|
rs2083502328
|
|
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5402del (p.Asn1801fs)
|
rs1555106438
|
|
NM_000051.4(ATM):c.5402dup (p.Asn1801fs)
|
rs1555106438
|
|
NM_000051.4(ATM):c.5404C>T (p.His1802Tyr)
|
rs2083502587
|
|
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.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.5406T>C (p.His1802=)
|
|
|
NM_000051.4(ATM):c.5407G>C (p.Asp1803His)
|
rs2083502901
|
|
NM_000051.4(ATM):c.5408A>T (p.Asp1803Val)
|
rs2135929138
|
|
NM_000051.4(ATM):c.5409C>T (p.Asp1803=)
|
rs1555106462
|
|
NM_000051.4(ATM):c.540del (p.Asp181fs)
|
rs1565369355
|
|
NM_000051.4(ATM):c.5410A>C (p.Ile1804Leu)
|
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5416A>C (p.Ile1806Leu)
|
rs1565479163
|
|
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5417_5422del (p.Ile1806_Lys1807del)
|
|
|
NM_000051.4(ATM):c.5419A>C (p.Lys1807Gln)
|
rs1591712583
|
|
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu)
|
rs1591712583
|
|
NM_000051.4(ATM):c.541G>A (p.Asp181Asn)
|
rs2079698928
|
|
NM_000051.4(ATM):c.5423C>T (p.Thr1808Ile)
|
|
|
NM_000051.4(ATM):c.5424_5429del (p.Leu1809_Thr1810del)
|
rs2083503966
|
|
NM_000051.4(ATM):c.5425C>G (p.Leu1809Val)
|
rs2135929542
|
|
NM_000051.4(ATM):c.5426T>A (p.Leu1809Gln)
|
rs2083504168
|
|
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro)
|
rs2083504168
|
|
NM_000051.4(ATM):c.5428A>G (p.Thr1810Ala)
|
rs876659748
|
|
NM_000051.4(ATM):c.5428A>T (p.Thr1810Ser)
|
rs876659748
|
|
NM_000051.4(ATM):c.5429C>T (p.Thr1810Ile)
|
rs1565479223
|
|
NM_000051.4(ATM):c.542A>G (p.Asp181Gly)
|
|
|
NM_000051.4(ATM):c.5430T>G (p.Thr1810=)
|
rs1057522229
|
|
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs)
|
rs2135929688
|
|
NM_000051.4(ATM):c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT (p.Cys1811delinsLeuSerLysSerTer)
|
|
|
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser)
|
rs149569091
|
|
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter)
|
rs1555106493
|
|
NM_000051.4(ATM):c.5434G>C (p.Ala1812Pro)
|
|
|
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
|
|
|
NM_000051.4(ATM):c.5436T>C (p.Ala1812=)
|
rs1555106502
|
|
NM_000051.4(ATM):c.5436T>G (p.Ala1812=)
|
rs1555106502
|
|
NM_000051.4(ATM):c.5440T>C (p.Leu1814=)
|
|
|
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
|
|
|
NM_000051.4(ATM):c.5441T>G (p.Leu1814Trp)
|
rs2083505270
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
NM_000051.4(ATM):c.5442G>A (p.Leu1814=)
|
rs2083505400
|
|
NM_000051.4(ATM):c.5443G>T (p.Asp1815Tyr)
|
|
|
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs)
|
rs1591712726
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
NM_000051.4(ATM):c.5444A>T (p.Asp1815Val)
|
|
|
NM_000051.4(ATM):c.5445C>A (p.Asp1815Glu)
|
|
|
NM_000051.4(ATM):c.5445C>G (p.Asp1815Glu)
|
rs1555106518
|
|
NM_000051.4(ATM):c.5447G>C (p.Ser1816Thr)
|
rs2135930154
|
|
NM_000051.4(ATM):c.5448T>C (p.Ser1816=)
|
rs766455425
|
|
NM_000051.4(ATM):c.544G>A (p.Val182Ile)
|
rs3218707
|
|
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu)
|
rs2083506323
|
|
NM_000051.4(ATM):c.5450dup (p.Gly1818fs)
|
|
|
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser)
|
rs774784546
|
|
NM_000051.4(ATM):c.5453G>A (p.Gly1818Asp)
|
|
|
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu)
|
rs1555106531
|
|
NM_000051.4(ATM):c.5454C>A (p.Gly1818=)
|
|
|
NM_000051.4(ATM):c.5455A>G (p.Thr1819Ala)
|
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
NM_000051.4(ATM):c.5457A>G (p.Thr1819=)
|
rs1555106535
|
|
NM_000051.4(ATM):c.5458A>C (p.Lys1820Gln)
|
|
|
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr)
|
rs983664978
|
|
NM_000051.4(ATM):c.545T>G (p.Val182Gly)
|
|
|
NM_000051.4(ATM):c.5460A>G (p.Lys1820=)
|
rs1591712836
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
NM_000051.4(ATM):c.5461T>G (p.Cys1821Gly)
|
|
|
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr)
|
rs1565479431
|
|
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe)
|
rs1565479431
|
|
NM_000051.4(ATM):c.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer)
|
|
|
NM_000051.4(ATM):c.5464G>A (p.Glu1822Lys)
|
rs1591712872
|
|
NM_000051.4(ATM):c.5465A>C (p.Glu1822Ala)
|
rs2135930592
|
|
NM_000051.4(ATM):c.5466A>C (p.Glu1822Asp)
|
|
|
NM_000051.4(ATM):c.5466A>G (p.Glu1822=)
|
|
|
NM_000051.4(ATM):c.5467A>G (p.Ile1823Val)
|
|
|
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe)
|
rs2083508049
|
|
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
|
|
|
NM_000051.4(ATM):c.546T>C (p.Val182=)
|
|
|
NM_000051.4(ATM):c.546T>G (p.Val182=)
|
rs2135223336
|
|
NM_000051.4(ATM):c.546dup (p.His183fs)
|
|
|
NM_000051.4(ATM):c.5471T>C (p.Leu1824Pro)
|
rs1565479465
|
|
NM_000051.4(ATM):c.5472T>A (p.Leu1824=)
|
rs2135930756
|
|
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)
|
rs1555106553
|
|
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)
|
rs1555106553
|
|
NM_000051.4(ATM):c.5474A>C (p.Gln1825Pro)
|
rs587782655
|
|
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)
|
|
|
NM_000051.4(ATM):c.5475dup (p.Leu1826fs)
|
|
|
NM_000051.4(ATM):c.5476T>A (p.Leu1826Ile)
|
rs1555106563
|
|
NM_000051.4(ATM):c.5476T>C (p.Leu1826=)
|
rs1555106563
|
|
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val)
|
rs1555106563
|
|
NM_000051.4(ATM):c.5476TTA[1] (p.Leu1827del)
|
rs1591712957
|
|
NM_000051.4(ATM):c.5479T>C (p.Leu1827=)
|
rs2135930931
|
|
NM_000051.4(ATM):c.547C>G (p.His183Asp)
|
rs1409889384
|
|
NM_000051.4(ATM):c.547C>T (p.His183Tyr)
|
rs1409889384
|
|
NM_000051.4(ATM):c.5481A>G (p.Leu1827=)
|
rs2135930953
|
|
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln)
|
rs2083509111
|
|
NM_000051.4(ATM):c.5484G>A (p.Lys1828=)
|
|
|
NM_000051.4(ATM):c.5484G>T (p.Lys1828Asn)
|
|
|
NM_000051.4(ATM):c.5488A>C (p.Met1830Leu)
|
rs587781622
|
|
NM_000051.4(ATM):c.5488A>T (p.Met1830Leu)
|
rs587781622
|
|
NM_000051.4(ATM):c.548A>C (p.His183Pro)
|
rs786204219
|
|
NM_000051.4(ATM):c.548A>G (p.His183Arg)
|
rs786204219
|
|
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile)
|
rs779720793
|
|
NM_000051.4(ATM):c.5492G>A (p.Cys1831Tyr)
|
rs1555106575
|
|
NM_000051.4(ATM):c.5493T>G (p.Cys1831Trp)
|
|
|
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys)
|
rs1591713057
|
|
NM_000051.4(ATM):c.5496+11T>G
|
rs751491395
|
|
NM_000051.4(ATM):c.5496+13A>G
|
|
|
NM_000051.4(ATM):c.5496+13_5496+16del
|
rs1382076363
|
|
NM_000051.4(ATM):c.5496+14T>G
|
rs1172938746
|
|
NM_000051.4(ATM):c.5496+15T>G
|
|
|
NM_000051.4(ATM):c.5496+18T>G
|
rs2135931607
|
|
NM_000051.4(ATM):c.5496+19C>T
|
|
|
NM_000051.4(ATM):c.5496+1G>A
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+1G>T
|
rs879254180
|
|
NM_000051.4(ATM):c.5496+2T>A
|
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.5496+4A>G
|
rs1565479590
|
|
NM_000051.4(ATM):c.5496+5G>T
|
rs786202708
|
|
NM_000051.4(ATM):c.5496+645T>C
|
|
|
NM_000051.4(ATM):c.5496+645T>G
|
|
|
NM_000051.4(ATM):c.5496+7_5496+9del
|
rs878853523
|
|
NM_000051.4(ATM):c.5496A>G (p.Glu1832=)
|
rs1591713080
|
|
NM_000051.4(ATM):c.5497-11G>T
|
rs2135942166
|
|
NM_000051.4(ATM):c.5497-12T>G
|
|
|
NM_000051.4(ATM):c.5497-12del
|
|
|
NM_000051.4(ATM):c.5497-13T>G
|
|
|
NM_000051.4(ATM):c.5497-13_5497-10del
|
|
|
NM_000051.4(ATM):c.5497-15G>A
|
rs3092828
|
|
NM_000051.4(ATM):c.5497-18T>G
|
rs2135942080
|
|
NM_000051.4(ATM):c.5497-19A>G
|
rs1555107231
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5497-20G>T
|
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-3T>A
|
rs1064795486
|
|
NM_000051.4(ATM):c.5497-3T>C
|
rs1064795486
|
|
NM_000051.4(ATM):c.5497-3T>G
|
rs1064795486
|
|
NM_000051.4(ATM):c.5497-4C>G
|
rs1002998981
|
|
NM_000051.4(ATM):c.5497-4dup
|
rs2083589744
|
|
NM_000051.4(ATM):c.5497-5T>G
|
|
|
NM_000051.4(ATM):c.5497-7A>G
|
rs2135942246
|
|
NM_000051.4(ATM):c.5497-9A>G
|
rs878853524
|
|
NM_000051.4(ATM):c.5497G>A (p.Val1833Met)
|
rs2135942364
|
|
NM_000051.4(ATM):c.5498T>G (p.Val1833Gly)
|
|
|
NM_000051.4(ATM):c.5499_5509del (p.Lys1834fs)
|
|
|
NM_000051.4(ATM):c.549T>A (p.His183Gln)
|
rs1591499967
|
|
NM_000051.4(ATM):c.549T>C (p.His183=)
|
rs1591499967
|
|
NM_000051.4(ATM):c.549T>G (p.His183Gln)
|
rs1591499967
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
NM_000051.4(ATM):c.54T>C (p.Asp18=)
|
rs786203926
|
|
NM_000051.4(ATM):c.5501A>G (p.Lys1834Arg)
|
|
|
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
|
|
|
NM_000051.4(ATM):c.5503del (p.Thr1835fs)
|
rs1591717467
|
|
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser)
|
rs2135942516
|
|
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
|
|
|
NM_000051.4(ATM):c.5505del (p.Asp1836fs)
|
|
|
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn)
|
rs2135942560
|
|
NM_000051.4(ATM):c.5506G>C (p.Asp1836His)
|
rs2135942560
|
|
NM_000051.4(ATM):c.5507A>T (p.Asp1836Val)
|
rs1555107256
|
|
NM_000051.4(ATM):c.5508C>T (p.Asp1836=)
|
rs2135942603
|
|
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
|
|
|
NM_000051.4(ATM):c.5509T>C (p.Phe1837Leu)
|
|
|
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val)
|
rs876660472
|
|
NM_000051.4(ATM):c.550A>C (p.Arg184=)
|
|
|
NM_000051.4(ATM):c.550A>G (p.Arg184Gly)
|
rs1555066377
|
|
NM_000051.4(ATM):c.550A>T (p.Arg184Ter)
|
|
|
NM_000051.4(ATM):c.5511T>C (p.Phe1837=)
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5511_5587dup (p.Ser1863delinsPheValArgLeuTyrPheHisThrTer)
|
|
|
NM_000051.4(ATM):c.5512T>C (p.Cys1838Arg)
|
rs587781390
|
|
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly)
|
rs587781390
|
|
NM_000051.4(ATM):c.5513G>C (p.Cys1838Ser)
|
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5516A>T (p.Gln1839Leu)
|
|
|
NM_000051.4(ATM):c.5516dup (p.Thr1840fs)
|
rs879254242
|
|
NM_000051.4(ATM):c.5519C>G (p.Thr1840Ser)
|
rs2083591643
|
|
NM_000051.4(ATM):c.551G>A (p.Arg184Lys)
|
rs2135223542
|
|
NM_000051.4(ATM):c.5520T>C (p.Thr1840=)
|
rs1591717575
|
|
NM_000051.4(ATM):c.5520T>G (p.Thr1840=)
|
|
|
NM_000051.4(ATM):c.5521G>A (p.Val1841Ile)
|
rs1565481593
|
|
NM_000051.4(ATM):c.5521G>C (p.Val1841Leu)
|
|
|
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)
|
rs1555107293
|
|
NM_000051.4(ATM):c.5523A>C (p.Val1841=)
|
rs1060504268
|
|
NM_000051.4(ATM):c.5523A>G (p.Val1841=)
|
rs1060504268
|
|
NM_000051.4(ATM):c.5524dup (p.Leu1842fs)
|
|
|
NM_000051.4(ATM):c.5525T>C (p.Leu1842Pro)
|
|
|
NM_000051.4(ATM):c.5525T>G (p.Leu1842Arg)
|
rs1060501619
|
|
NM_000051.4(ATM):c.5526T>A (p.Leu1842=)
|
rs2135942991
|
|
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala)
|
rs1060501607
|
|
NM_000051.4(ATM):c.5528C>G (p.Pro1843Arg)
|
rs764522350
|
|
NM_000051.4(ATM):c.5528C>T (p.Pro1843Leu)
|
|
|
NM_000051.4(ATM):c.5529A>G (p.Pro1843=)
|
rs750037588
|
|
NM_000051.4(ATM):c.5529A>T (p.Pro1843=)
|
|
|
NM_000051.4(ATM):c.552A>G (p.Arg184=)
|
rs2135223587
|
|
NM_000051.4(ATM):c.5531A>C (p.Tyr1844Ser)
|
rs876658907
|
|
NM_000051.4(ATM):c.5531A>G (p.Tyr1844Cys)
|
rs876658907
|
|
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)
|
rs2135943149
|
|
NM_000051.4(ATM):c.5532C>T (p.Tyr1844=)
|
|
|
NM_000051.4(ATM):c.5533T>A (p.Leu1845Met)
|
rs1555107311
|
|
NM_000051.4(ATM):c.5533T>G (p.Leu1845Val)
|
|
|
NM_000051.4(ATM):c.5534T>C (p.Leu1845Ser)
|
rs1555107319
|
|
NM_000051.4(ATM):c.5534del (p.Tyr1844_Leu1845insTer)
|
rs1555107315
|
|
NM_000051.4(ATM):c.5535G>A (p.Leu1845=)
|
|
|
NM_000051.4(ATM):c.5535G>C (p.Leu1845Phe)
|
rs2135943227
|
|
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe)
|
rs587779849
|
|
NM_000051.4(ATM):c.5537T>C (p.Ile1846Thr)
|
|
|
NM_000051.4(ATM):c.5538dup (p.His1847fs)
|
rs2135943275
|
|
NM_000051.4(ATM):c.5539C>G (p.His1847Asp)
|
rs1591717732
|
|
NM_000051.4(ATM):c.553G>C (p.Val185Leu)
|
|
|
NM_000051.4(ATM):c.5540A>G (p.His1847Arg)
|
rs2083593874
|
|
NM_000051.4(ATM):c.5541T>C (p.His1847=)
|
rs1555107326
|
|
NM_000051.4(ATM):c.5542G>C (p.Asp1848His)
|
rs2135943397
|
|
NM_000051.4(ATM):c.5542_5544del (p.Asp1848del)
|
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
NM_000051.4(ATM):c.5546T>C (p.Ile1849Thr)
|
rs2135943454
|
|
NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter)
|
rs878853525
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5549dup (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5550A>C (p.Leu1850Phe)
|
|
|
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val)
|
rs200842502
|
|
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe)
|
rs200842502
|
|
NM_000051.4(ATM):c.5552T>A (p.Leu1851His)
|
rs2135943595
|
|
NM_000051.4(ATM):c.5552T>C (p.Leu1851Pro)
|
rs2135943595
|
|
NM_000051.4(ATM):c.5553C>A (p.Leu1851=)
|
|
|
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554del (p.Gln1852fs)
|
|
|
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)
|
rs1555107356
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
NM_000051.4(ATM):c.5557_5558delinsAG (p.Asp1853Ser)
|
|
|
NM_000051.4(ATM):c.5557_5558delinsAT (p.Asp1853Ile)
|
rs1555107380
|
|
NM_000051.4(ATM):c.5558A>G (p.Asp1853Gly)
|
|
|
NM_000051.4(ATM):c.5559T>A (p.Asp1853Glu)
|
|
|
NM_000051.4(ATM):c.5559T>C (p.Asp1853=)
|
rs1555107393
|
|
NM_000051.4(ATM):c.555T>C (p.Val185=)
|
|
|
NM_000051.4(ATM):c.5560A>G (p.Thr1854Ala)
|
|
|
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile)
|
rs138710254
|
|
NM_000051.4(ATM):c.5561_5568dup (p.Ser1857fs)
|
|
|
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
|
|
|
NM_000051.4(ATM):c.5562A>T (p.Thr1854=)
|
|
|
NM_000051.4(ATM):c.5564A>C (p.Asn1855Thr)
|
|
|
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser)
|
rs1565481878
|
|
NM_000051.4(ATM):c.5565T>C (p.Asn1855=)
|
rs1565481888
|
|
NM_000051.4(ATM):c.5565T>G (p.Asn1855Lys)
|
rs1565481888
|
|
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln)
|
rs1465041573
|
|
NM_000051.4(ATM):c.556T>C (p.Leu186=)
|
rs2079700064
|
|
NM_000051.4(ATM):c.556T>G (p.Leu186Val)
|
rs2079700064
|
|
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter)
|
rs2135944016
|
|
NM_000051.4(ATM):c.5570C>T (p.Ser1857Leu)
|
|
|
NM_000051.4(ATM):c.5571A>G (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5571A>T (p.Ser1857=)
|
rs777570286
|
|
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg)
|
rs2083597320
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5574G>A (p.Trp1858Ter)
|
rs2135944112
|
|
NM_000051.4(ATM):c.5575A>C (p.Arg1859=)
|
rs1565481925
|
|
NM_000051.4(ATM):c.5575A>G (p.Arg1859Gly)
|
rs1565481925
|
|
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys)
|
rs1060501568
|
|
NM_000051.4(ATM):c.5576G>T (p.Arg1859Ile)
|
rs1060501568
|
|
NM_000051.4(ATM):c.5579A>G (p.Asn1860Ser)
|
rs2083597981
|
|
NM_000051.4(ATM):c.557T>C (p.Leu186Ser)
|
rs1555066388
|
|
NM_000051.4(ATM):c.557T>G (p.Leu186Ter)
|
rs1555066388
|
|
NM_000051.4(ATM):c.557dup (p.Leu186fs)
|
rs1591500005
|
|
NM_000051.4(ATM):c.5580T>A (p.Asn1860Lys)
|
rs2083598099
|
|
NM_000051.4(ATM):c.5580T>C (p.Asn1860=)
|
rs2083598099
|
|
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met)
|
rs1314298685
|
|
NM_000051.4(ATM):c.5581C>T (p.Leu1861=)
|
|
|
NM_000051.4(ATM):c.5582T>C (p.Leu1861Pro)
|
rs1555107411
|
|
NM_000051.4(ATM):c.5583G>C (p.Leu1861=)
|
rs781383087
|
|
NM_000051.4(ATM):c.5583G>T (p.Leu1861=)
|
rs781383087
|
|
NM_000051.4(ATM):c.5584C>G (p.Leu1862Val)
|
rs149362482
|
|
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe)
|
rs149362482
|
|
NM_000051.4(ATM):c.5585T>A (p.Leu1862His)
|
rs1555107424
|
|
NM_000051.4(ATM):c.5585T>C (p.Leu1862Pro)
|
rs1555107424
|
|
NM_000051.4(ATM):c.5586T>G (p.Leu1862=)
|
rs1555107431
|
|
NM_000051.4(ATM):c.5588C>A (p.Ser1863Tyr)
|
|
|
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)
|
rs786203902
|
|
NM_000051.4(ATM):c.558A>C (p.Leu186Phe)
|
rs991667156
|
|
NM_000051.4(ATM):c.558A>G (p.Leu186=)
|
rs991667156
|
|
NM_000051.4(ATM):c.5591C>G (p.Thr1864Arg)
|
rs779156037
|
|
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile)
|
rs779156037
|
|
NM_000051.4(ATM):c.5592A>C (p.Thr1864=)
|
|
|
NM_000051.4(ATM):c.5592A>G (p.Thr1864=)
|
rs1426095621
|
|
NM_000051.4(ATM):c.5592A>T (p.Thr1864=)
|
rs1426095621
|
|
NM_000051.4(ATM):c.5593C>A (p.His1865Asn)
|
rs567908537
|
|
NM_000051.4(ATM):c.5594A>G (p.His1865Arg)
|
rs876659963
|
|
NM_000051.4(ATM):c.5594_5595del (p.His1865fs)
|
rs1555107450
|
|
NM_000051.4(ATM):c.5595T>A (p.His1865Gln)
|
rs772261410
|
|
NM_000051.4(ATM):c.5595T>G (p.His1865Gln)
|
rs772261410
|
|
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5596G>T (p.Val1866Phe)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly)
|
rs2083600177
|
|
NM_000051.4(ATM):c.5598T>G (p.Val1866=)
|
|
|
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys)
|
rs2135944782
|
|
NM_000051.4(ATM):c.5599C>G (p.Gln1867Glu)
|
rs2135944782
|
|
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
|
|
|
NM_000051.4(ATM):c.5599del (p.Gln1867fs)
|
|
|
NM_000051.4(ATM):c.559G>A (p.Val187Met)
|
rs1060501614
|
|
NM_000051.4(ATM):c.559G>T (p.Val187Leu)
|
rs1060501614
|
|
NM_000051.4(ATM):c.55A>G (p.Arg19Gly)
|
rs1565344118
|
|
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)
|
rs1555107457
|
|
NM_000051.4(ATM):c.5601G>A (p.Gln1867=)
|
rs1555107464
|
|
NM_000051.4(ATM):c.5602G>A (p.Gly1868Arg)
|
rs1565482078
|
|
NM_000051.4(ATM):c.5603G>A (p.Gly1868Glu)
|
rs1565482084
|
|
NM_000051.4(ATM):c.5604A>C (p.Gly1868=)
|
|
|
NM_000051.4(ATM):c.5604A>G (p.Gly1868=)
|
|
|
NM_000051.4(ATM):c.5605T>A (p.Phe1869Ile)
|
|
|
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu)
|
rs975721205
|
|
NM_000051.4(ATM):c.5605T>G (p.Phe1869Val)
|
rs975721205
|
|
NM_000051.4(ATM):c.5607T>G (p.Phe1869Leu)
|
|
|
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
|
|
|
NM_000051.4(ATM):c.5609dup (p.Thr1871fs)
|
rs2083601046
|
|
NM_000051.4(ATM):c.560T>C (p.Val187Ala)
|
rs1591500044
|
|
NM_000051.4(ATM):c.5610C>T (p.Phe1870=)
|
rs2083601271
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
NM_000051.4(ATM):c.5611A>G (p.Thr1871Ala)
|
|
|
NM_000051.4(ATM):c.5613C>G (p.Thr1871=)
|
rs2083601650
|
|
NM_000051.4(ATM):c.5614A>G (p.Ser1872Gly)
|
rs2135945114
|
|
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)
|
rs761257154
|
|
NM_000051.4(ATM):c.5615G>C (p.Ser1872Thr)
|
rs761257154
|
|
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
|
|
|
NM_000051.4(ATM):c.5617T>A (p.Cys1873Ser)
|
rs2083601964
|
|
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.5620C>T (p.Leu1874Phe)
|
|
|
NM_000051.4(ATM):c.5621T>C (p.Leu1874Pro)
|
|
|
NM_000051.4(ATM):c.5622T>C (p.Leu1874=)
|
rs2135945293
|
|
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)
|
rs376603775
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)
|
rs762304746
|
|
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr)
|
rs1060501567
|
|
NM_000051.4(ATM):c.5626_5641del (p.His1876fs)
|
|
|
NM_000051.4(ATM):c.5627A>G (p.His1876Arg)
|
rs967371351
|
|
NM_000051.4(ATM):c.5628C>A (p.His1876Gln)
|
rs1237700879
|
|
NM_000051.4(ATM):c.5628C>T (p.His1876=)
|
rs1237700879
|
|
NM_000051.4(ATM):c.562G>T (p.Ala188Ser)
|
rs1555066392
|
|
NM_000051.4(ATM):c.5630T>G (p.Phe1877Cys)
|
rs202028401
|
|
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
|
|
|
NM_000051.4(ATM):c.5631C>A (p.Phe1877Leu)
|
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5632T>C (p.Ser1878Pro)
|
|
|
NM_000051.4(ATM):c.5632_5635del (p.Ser1878fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5634G>T (p.Ser1878=)
|
rs767070325
|
|
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg)
|
rs786203086
|
|
NM_000051.4(ATM):c.5637A>C (p.Gln1879His)
|
rs587781993
|
|
NM_000051.4(ATM):c.5637A>G (p.Gln1879=)
|
rs587781993
|
|
NM_000051.4(ATM):c.5637_5638del (p.Gln1879fs)
|
|
|
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys)
|
rs587780628
|
|
NM_000051.4(ATM):c.563C>A (p.Ala188Asp)
|
rs1555066393
|
|
NM_000051.4(ATM):c.563C>G (p.Ala188Gly)
|
rs1555066393
|
|
NM_000051.4(ATM):c.5640G>T (p.Thr1880=)
|
rs757103582
|
|
NM_000051.4(ATM):c.5642G>C (p.Ser1881Thr)
|
rs2135945850
|
|
NM_000051.4(ATM):c.5644C>A (p.Arg1882=)
|
rs786204433
|
|
NM_000051.4(ATM):c.5645G>C (p.Arg1882Pro)
|
rs587782236
|
|
NM_000051.4(ATM):c.5645G>T (p.Arg1882Leu)
|
|
|
NM_000051.4(ATM):c.5648C>T (p.Ser1883Phe)
|
rs2083605154
|
|
NM_000051.4(ATM):c.5649del (p.Thr1884fs)
|
rs2083605298
|
|
NM_000051.4(ATM):c.564T>C (p.Ala188=)
|
rs2135224096
|
|
NM_000051.4(ATM):c.564T>G (p.Ala188=)
|
|
|
NM_000051.4(ATM):c.564del (p.Arg189fs)
|
rs876658754
|
|
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)
|
rs1555107562
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile)
|
rs1565482352
|
|
NM_000051.4(ATM):c.5652A>G (p.Thr1884=)
|
rs1591718571
|
|
NM_000051.4(ATM):c.5653A>G (p.Thr1885Ala)
|
rs587779850
|
|
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)
|
rs587778077
|
|
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile)
|
rs2083606342
|
|
NM_000051.4(ATM):c.5655C>A (p.Thr1885=)
|
|
|
NM_000051.4(ATM):c.5655C>G (p.Thr1885=)
|
rs1555107577
|
|
NM_000051.4(ATM):c.5655C>T (p.Thr1885=)
|
rs1555107577
|
|
NM_000051.4(ATM):c.5657del (p.Pro1886fs)
|
rs2135946188
|
|
NM_000051.4(ATM):c.5658T>A (p.Pro1886=)
|
rs940182945
|
|
NM_000051.4(ATM):c.5659G>A (p.Ala1887Thr)
|
rs2083606754
|
|
NM_000051.4(ATM):c.565A>C (p.Arg189=)
|
rs2079701086
|
|
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)
|
rs2079701086
|
|
NM_000051.4(ATM):c.5660C>A (p.Ala1887Glu)
|
|
|
NM_000051.4(ATM):c.5660C>G (p.Ala1887Gly)
|
rs1297909613
|
|
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val)
|
rs1297909613
|
|
NM_000051.4(ATM):c.5661A>T (p.Ala1887=)
|
rs876658939
|
|
NM_000051.4(ATM):c.5663A>T (p.Asn1888Ile)
|
|
|
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met)
|
rs746106249
|
|
NM_000051.4(ATM):c.5665T>G (p.Leu1889Val)
|
|
|
NM_000051.4(ATM):c.5666T>G (p.Leu1889Trp)
|
rs1555107606
|
|
NM_000051.4(ATM):c.566G>A (p.Arg189Lys)
|
rs79075295
|
|
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
|
|
|
NM_000051.4(ATM):c.5672C>T (p.Ser1891Leu)
|
rs2135946592
|
|
NM_000051.4(ATM):c.5673A>G (p.Ser1891=)
|
rs1555107607
|
|
NM_000051.4(ATM):c.5674+11A>T
|
|
|
NM_000051.4(ATM):c.5674+13A>G
|
rs1555107618
|
|
NM_000051.4(ATM):c.5674+14T>A
|
rs2083608444
|
|
NM_000051.4(ATM):c.5674+14T>C
|
rs2083608444
|
|
NM_000051.4(ATM):c.5674+18del
|
|
|
NM_000051.4(ATM):c.5674+19A>C
|
rs2135946949
|
|
NM_000051.4(ATM):c.5674+19A>G
|
|
|
NM_000051.4(ATM):c.5674+1G>A
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5674+20A>G
|
|
|
NM_000051.4(ATM):c.5674+7T>A
|
rs1591718715
|
|
NM_000051.4(ATM):c.5674+7T>C
|
|
|
NM_000051.4(ATM):c.5674+8A>C
|
rs1033110152
|
|
NM_000051.4(ATM):c.5674+8A>G
|
rs1033110152
|
|
NM_000051.4(ATM):c.5674+9T>C
|
|
|
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
|
|
|
NM_000051.4(ATM):c.5675-10T>A
|
rs377599533
|
|
NM_000051.4(ATM):c.5675-10T>C
|
|
|
NM_000051.4(ATM):c.5675-11T>C
|
|
|
NM_000051.4(ATM):c.5675-11_5675-10del
|
rs2083812557
|
|
NM_000051.4(ATM):c.5675-15A>G
|
rs1565485867
|
|
NM_000051.4(ATM):c.5675-16T>A
|
|
|
NM_000051.4(ATM):c.5675-17A>C
|
|
|
NM_000051.4(ATM):c.5675-17A>G
|
|
|
NM_000051.4(ATM):c.5675-19A>G
|
|
|
NM_000051.4(ATM):c.5675-1G>C
|
rs2135975662
|
|
NM_000051.4(ATM):c.5675-24_5699del
|
|
|
NM_000051.4(ATM):c.5675-27C>A
|
|
|
NM_000051.4(ATM):c.5675-2A>G
|
rs2083814855
|
|
NM_000051.4(ATM):c.5675-2dup
|
rs2135975648
|
|
NM_000051.4(ATM):c.5675-3C>G
|
rs876658545
|
|
NM_000051.4(ATM):c.5675-48T>C
|
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
NM_000051.4(ATM):c.5675-5G>A
|
rs1591731701
|
|
NM_000051.4(ATM):c.5675-5G>C
|
rs1591731701
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp)
|
rs2135975691
|
|
NM_000051.4(ATM):c.5677T>A (p.Ser1893Thr)
|
rs730881376
|
|
NM_000051.4(ATM):c.5677T>C (p.Ser1893Pro)
|
|
|
NM_000051.4(ATM):c.5677_5680del (p.Glu1894fs)
|
rs2135975673
|
|
NM_000051.4(ATM):c.5678C>A (p.Ser1893Ter)
|
|
|
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)
|
|
|
NM_000051.4(ATM):c.5679_5691del (p.Glu1894fs)
|
|
|
NM_000051.4(ATM):c.567A>G (p.Arg189=)
|
rs1555066398
|
|
NM_000051.4(ATM):c.567A>T (p.Arg189Ser)
|
rs1555066398
|
|
NM_000051.4(ATM):c.5680G>C (p.Glu1894Gln)
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
NM_000051.4(ATM):c.5682G>A (p.Glu1894=)
|
rs2135975851
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
NM_000051.4(ATM):c.5683C>G (p.His1895Asp)
|
rs766901049
|
|
NM_000051.4(ATM):c.5684A>C (p.His1895Pro)
|
rs2135975923
|
|
NM_000051.4(ATM):c.5685C>T (p.His1895=)
|
rs889445709
|
|
NM_000051.4(ATM):c.5686T>G (p.Phe1896Val)
|
rs1565485959
|
|
NM_000051.4(ATM):c.5687T>G (p.Phe1896Cys)
|
|
|
NM_000051.4(ATM):c.568A>G (p.Ile190Val)
|
rs1565369501
|
|
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys)
|
rs587782516
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
NM_000051.4(ATM):c.5690dup (p.Arg1898fs)
|
|
|
NM_000051.4(ATM):c.5691C>T (p.Phe1897=)
|
rs1555109057
|
|
NM_000051.4(ATM):c.5692C>A (p.Arg1898=)
|
|
|
NM_000051.4(ATM):c.5693G>T (p.Arg1898Leu)
|
rs370680798
|
|
NM_000051.4(ATM):c.5694A>T (p.Arg1898=)
|
|
|
NM_000051.4(ATM):c.5695T>A (p.Cys1899Ser)
|
rs373213507
|
|
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)
|
rs373213507
|
|
NM_000051.4(ATM):c.5696dup (p.Cys1899fs)
|
rs1565486028
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
NM_000051.4(ATM):c.5697C>T (p.Cys1899=)
|
rs753839301
|
|
NM_000051.4(ATM):c.5698T>A (p.Cys1900Ser)
|
rs2083817433
|
|
NM_000051.4(ATM):c.5698T>C (p.Cys1900Arg)
|
rs2083817433
|
|
NM_000051.4(ATM):c.5698T>G (p.Cys1900Gly)
|
rs2083817433
|
|
NM_000051.4(ATM):c.5699G>C (p.Cys1900Ser)
|
rs1591731972
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
|
|
NM_000051.4(ATM):c.56G>A (p.Arg19Lys)
|
rs1064793029
|
|
NM_000051.4(ATM):c.56G>C (p.Arg19Thr)
|
rs1064793029
|
|
NM_000051.4(ATM):c.5701T>C (p.Leu1901=)
|
rs2135976467
|
|
NM_000051.4(ATM):c.5703G>A (p.Leu1901=)
|
rs756979112
|
|
NM_000051.4(ATM):c.5703G>C (p.Leu1901Phe)
|
rs756979112
|
|
NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe)
|
rs756979112
|
|
NM_000051.4(ATM):c.5704G>A (p.Asp1902Asn)
|
rs1565486050
|
|
NM_000051.4(ATM):c.5704G>T (p.Asp1902Tyr)
|
rs1565486050
|
|
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly)
|
rs1565486057
|
|
NM_000051.4(ATM):c.5705A>T (p.Asp1902Val)
|
|
|
NM_000051.4(ATM):c.5706del (p.Asp1902fs)
|
|
|
NM_000051.4(ATM):c.5706dup (p.Lys1903Ter)
|
|
|
NM_000051.4(ATM):c.5708A>C (p.Lys1903Thr)
|
|
|
NM_000051.4(ATM):c.5708A>G (p.Lys1903Arg)
|
rs2083818567
|
|
NM_000051.4(ATM):c.5709A>G (p.Lys1903=)
|
rs2135976714
|
|
NM_000051.4(ATM):c.5710A>T (p.Lys1904Ter)
|
|
|
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)
|
rs864622127
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)
|
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg)
|
rs1591732095
|
|
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)
|
rs1555109102
|
|
NM_000051.4(ATM):c.5719A>G (p.Arg1907Gly)
|
rs2083819737
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
NM_000051.4(ATM):c.5722A>G (p.Thr1908Ala)
|
|
|
NM_000051.4(ATM):c.5723C>G (p.Thr1908Arg)
|
rs2135977089
|
|
NM_000051.4(ATM):c.5723C>T (p.Thr1908Ile)
|
rs2135977089
|
|
NM_000051.4(ATM):c.5723del (p.Thr1908fs)
|
rs2135977126
|
|
NM_000051.4(ATM):c.5724A>C (p.Thr1908=)
|
|
|
NM_000051.4(ATM):c.5724A>G (p.Thr1908=)
|
rs2135977142
|
|
NM_000051.4(ATM):c.5726T>A (p.Met1909Lys)
|
rs542378165
|
|
NM_000051.4(ATM):c.5726T>C (p.Met1909Thr)
|
rs542378165
|
|
NM_000051.4(ATM):c.5726T>G (p.Met1909Arg)
|
rs542378165
|
|
NM_000051.4(ATM):c.5727G>A (p.Met1909Ile)
|
rs1555109119
|
|
NM_000051.4(ATM):c.5728C>G (p.Leu1910Val)
|
rs143577586
|
|
NM_000051.4(ATM):c.5728C>T (p.Leu1910Phe)
|
rs143577586
|
|
NM_000051.4(ATM):c.5729T>C (p.Leu1910Pro)
|
rs2135977294
|
|
NM_000051.4(ATM):c.5731G>C (p.Ala1911Pro)
|
rs2135977350
|
|
NM_000051.4(ATM):c.5732C>G (p.Ala1911Gly)
|
|
|
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs)
|
rs1565486174
|
|
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile)
|
rs1064794105
|
|
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu)
|
rs1064794105
|
|
NM_000051.4(ATM):c.5736T>C (p.Val1912=)
|
rs1060504302
|
|
NM_000051.4(ATM):c.5736dup (p.Val1913fs)
|
rs2135977494
|
|
NM_000051.4(ATM):c.5737G>A (p.Val1913Met)
|
rs876659487
|
|
NM_000051.4(ATM):c.5737_5743del (p.Val1913fs)
|
rs2135977542
|
|
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly)
|
rs1060501688
|
|
NM_000051.4(ATM):c.5739G>A (p.Val1913=)
|
|
|
NM_000051.4(ATM):c.573T>G (p.Ile191Met)
|
rs775003417
|
|
NM_000051.4(ATM):c.5741A>G (p.Asp1914Gly)
|
|
|
NM_000051.4(ATM):c.5741del (p.Asp1914fs)
|
rs2083821626
|
|
NM_000051.4(ATM):c.5743T>C (p.Tyr1915His)
|
rs2135977706
|
|
NM_000051.4(ATM):c.5745C>A (p.Tyr1915Ter)
|
|
|
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
|
|
|
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)
|
rs1555109147
|
|
NM_000051.4(ATM):c.5746A>T (p.Met1916Leu)
|
rs910274159
|
|
NM_000051.4(ATM):c.5748G>A (p.Met1916Ile)
|
rs2083822362
|
|
NM_000051.4(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle)
|
rs876659524
|
|
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly)
|
rs2083822627
|
|
NM_000051.4(ATM):c.574C>A (p.His192Asn)
|
rs587780629
|
|
NM_000051.4(ATM):c.574C>G (p.His192Asp)
|
rs587780629
|
|
NM_000051.4(ATM):c.574C>T (p.His192Tyr)
|
rs587780629
|
|
NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys)
|
rs377289524
|
|
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)
|
|
|
NM_000051.4(ATM):c.5755C>A (p.Gln1919Lys)
|
|
|
NM_000051.4(ATM):c.5755C>G (p.Gln1919Glu)
|
rs2083823146
|
|
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)
|
rs2083823146
|
|
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro)
|
rs1565486302
|
|
NM_000051.4(ATM):c.5756_5759del (p.Gln1919fs)
|
|
|
NM_000051.4(ATM):c.5757A>G (p.Gln1919=)
|
rs1555109182
|
|
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs)
|
rs1591732424
|
|
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs)
|
rs1555109177
|
|
NM_000051.4(ATM):c.5759A>G (p.Lys1920Arg)
|
rs2135978116
|
|
NM_000051.4(ATM):c.575A>G (p.His192Arg)
|
rs1555066411
|
|
NM_000051.4(ATM):c.575A>T (p.His192Leu)
|
|
|
NM_000051.4(ATM):c.5760G>A (p.Lys1920=)
|
|
|
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly)
|
rs1060501527
|
|
NM_000051.4(ATM):c.5761A>T (p.Arg1921Ter)
|
|
|
NM_000051.4(ATM):c.5762+10T>C
|
rs1276744102
|
|
NM_000051.4(ATM):c.5762+10T>G
|
rs1276744102
|
|
NM_000051.4(ATM):c.5762+11G>A
|
|
|
NM_000051.4(ATM):c.5762+11G>C
|
rs2135978459
|
|
NM_000051.4(ATM):c.5762+12A>C
|
rs2135978517
|
|
NM_000051.4(ATM):c.5762+13G>A
|
|
|
NM_000051.4(ATM):c.5762+16T>C
|
|
|
NM_000051.4(ATM):c.5762+18G>A
|
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+20T>C
|
rs2135978759
|
|
NM_000051.4(ATM):c.5762+21del
|
|
|
NM_000051.4(ATM):c.5762+26C>T
|
rs78330259
|
|
NM_000051.4(ATM):c.5762+3A>T
|
|
|
NM_000051.4(ATM):c.5762+3_5762+4del
|
|
|
NM_000051.4(ATM):c.5762+5T>G
|
|
|
NM_000051.4(ATM):c.5762+7_5762+11del
|
|
|
NM_000051.4(ATM):c.5762+8A>C
|
rs2083824504
|
|
NM_000051.4(ATM):c.5762+9A>G
|
rs1565486371
|
|
NM_000051.4(ATM):c.5762G>A (p.Arg1921Lys)
|
|
|
NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)
|
|
|
NM_000051.4(ATM):c.5762_5763del (p.Arg1921fs)
|
rs1565486341
|
|
NM_000051.4(ATM):c.576T>G (p.His192Gln)
|
rs2079702502
|
|
NM_000051.4(ATM):c.577G>A (p.Ala193Thr)
|
rs876659832
|
|
NM_000051.4(ATM):c.577G>C (p.Ala193Pro)
|
rs876659832
|
|
NM_000051.4(ATM):c.577G>T (p.Ala193Ser)
|
|
|
NM_000051.4(ATM):c.578C>G (p.Ala193Gly)
|
rs1064793928
|
|
NM_000051.4(ATM):c.578C>T (p.Ala193Val)
|
rs1064793928
|
|
NM_000051.4(ATM):c.57A>G (p.Arg19=)
|
|
|
NM_000051.4(ATM):c.580G>C (p.Val194Leu)
|
rs1591500206
|
|
NM_000051.4(ATM):c.580G>T (p.Val194Phe)
|
rs1591500206
|
|
NM_000051.4(ATM):c.581T>C (p.Val194Ala)
|
rs2135224694
|
|
NM_000051.4(ATM):c.583del (p.Thr195fs)
|
rs1591500220
|
|
NM_000051.4(ATM):c.584C>A (p.Thr195Asn)
|
|
|
NM_000051.4(ATM):c.584C>T (p.Thr195Ile)
|
rs1196611507
|
|
NM_000051.4(ATM):c.585C>G (p.Thr195=)
|
rs2135224869
|
|
NM_000051.4(ATM):c.585C>T (p.Thr195=)
|
|
|
NM_000051.4(ATM):c.586A>C (p.Lys196Gln)
|
rs2079703283
|
|
NM_000051.4(ATM):c.587A>G (p.Lys196Arg)
|
|
|
NM_000051.4(ATM):c.587_602del (p.Lys196fs)
|
rs2135224893
|
|
NM_000051.4(ATM):c.588A>G (p.Lys196=)
|
rs2135224945
|
|
NM_000051.4(ATM):c.588del (p.Gly197fs)
|
rs1057516683
|
|
NM_000051.4(ATM):c.589G>A (p.Gly197Arg)
|
rs764080545
|
|
NM_000051.4(ATM):c.58G>A (p.Ala20Thr)
|
rs1555053946
|
|
NM_000051.4(ATM):c.590G>T (p.Gly197Val)
|
rs753806542
|
|
NM_000051.4(ATM):c.591A>G (p.Gly197=)
|
rs587780630
|
|
NM_000051.4(ATM):c.592T>G (p.Cys198Gly)
|
|
|
NM_000051.4(ATM):c.594C>G (p.Cys198Trp)
|
rs1591500282
|
|
NM_000051.4(ATM):c.594C>T (p.Cys198=)
|
rs1591500282
|
|
NM_000051.4(ATM):c.595T>C (p.Cys199Arg)
|
rs1591500295
|
|
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr)
|
rs879254127
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
NM_000051.4(ATM):c.597T>C (p.Cys199=)
|
rs1565369633
|
|
NM_000051.4(ATM):c.597T>G (p.Cys199Trp)
|
rs1565369633
|
|
NM_000051.4(ATM):c.599C>G (p.Ser200Cys)
|
rs1060501562
|
|
NM_000051.4(ATM):c.59C>G (p.Ala20Gly)
|
rs2078809726
|
|
NM_000051.4(ATM):c.5G>C (p.Ser2Thr)
|
rs730881360
|
|
NM_000051.4(ATM):c.600T>G (p.Ser200=)
|
rs2135225298
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.603G>C (p.Gln201His)
|
|
|
NM_000051.4(ATM):c.605C>T (p.Thr202Ile)
|
rs1555066438
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
NM_000051.4(ATM):c.606_615dup (p.Asn206Ter)
|
|
|
NM_000051.4(ATM):c.606_618delinsAG (p.Asp203fs)
|
rs2079704928
|
|
NM_000051.4(ATM):c.607G>A (p.Asp203Asn)
|
rs1591500372
|
|
NM_000051.4(ATM):c.607del (p.Asp203fs)
|
rs2135225618
|
|
NM_000051.4(ATM):c.60T>C (p.Ala20=)
|
|
|
NM_000051.4(ATM):c.610G>T (p.Gly204Ter)
|
rs147915571
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
NM_000051.4(ATM):c.612A>G (p.Gly204=)
|
rs878853527
|
|
NM_000051.4(ATM):c.614T>C (p.Leu205Ser)
|
|
|
NM_000051.4(ATM):c.614T>G (p.Leu205Ter)
|
rs2079705608
|
|
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.61A>C (p.Thr21Pro)
|
|
|
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)
|
rs1565344141
|
|
NM_000051.4(ATM):c.620C>G (p.Ser207Cys)
|
rs876660296
|
|
NM_000051.4(ATM):c.621C>T (p.Ser207=)
|
|
|
NM_000051.4(ATM):c.621del (p.Lys208fs)
|
rs2079706212
|
|
NM_000051.4(ATM):c.622A>C (p.Lys208Gln)
|
rs1292617227
|
|
NM_000051.4(ATM):c.622A>T (p.Lys208Ter)
|
|
|
NM_000051.4(ATM):c.623A>G (p.Lys208Arg)
|
rs2135226282
|
|
NM_000051.4(ATM):c.627T>C (p.Phe209=)
|
|
|
NM_000051.4(ATM):c.628T>C (p.Leu210=)
|
rs1555066477
|
|
NM_000051.4(ATM):c.629T>C (p.Leu210Ser)
|
rs2079706543
|
|
NM_000051.4(ATM):c.62C>A (p.Thr21Lys)
|
|
|
NM_000051.4(ATM):c.62C>G (p.Thr21Arg)
|
|
|
NM_000051.4(ATM):c.62C>T (p.Thr21Ile)
|
rs1442769051
|
|
NM_000051.4(ATM):c.630G>A (p.Leu210=)
|
rs1565369739
|
|
NM_000051.4(ATM):c.630G>T (p.Leu210Phe)
|
|
|
NM_000051.4(ATM):c.631G>A (p.Asp211Asn)
|
rs1555066481
|
|
NM_000051.4(ATM):c.632A>T (p.Asp211Val)
|
rs1387925127
|
|
NM_000051.4(ATM):c.633C>G (p.Asp211Glu)
|
rs1060501634
|
|
NM_000051.4(ATM):c.633C>T (p.Asp211=)
|
rs1060501634
|
|
NM_000051.4(ATM):c.634T>C (p.Phe212Leu)
|
rs876659912
|
|
NM_000051.4(ATM):c.635T>C (p.Phe212Ser)
|
rs1591500544
|
|
NM_000051.4(ATM):c.635_636insG (p.Phe212fs)
|
|
|
NM_000051.4(ATM):c.636T>C (p.Phe212=)
|
rs1555066499
|
|
NM_000051.4(ATM):c.637T>C (p.Phe213Leu)
|
rs2079707663
|
|
NM_000051.4(ATM):c.639T>C (p.Phe213=)
|
rs2135226818
|
|
NM_000051.4(ATM):c.63A>G (p.Thr21=)
|
rs199853729
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.640dup (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.642C>T (p.Ser214=)
|
rs1555066521
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
NM_000051.4(ATM):c.643A>G (p.Lys215Glu)
|
rs2079708238
|
|
NM_000051.4(ATM):c.644A>C (p.Lys215Thr)
|
rs755074633
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
|
|
|
NM_000051.4(ATM):c.645G>A (p.Lys215=)
|
rs2079708544
|
|
NM_000051.4(ATM):c.646G>A (p.Ala216Thr)
|
|
|
NM_000051.4(ATM):c.646G>C (p.Ala216Pro)
|
rs2235002
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
NM_000051.4(ATM):c.647C>T (p.Ala216Val)
|
rs2135227079
|
|
NM_000051.4(ATM):c.648T>A (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.648T>C (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.648T>G (p.Ala216=)
|
rs770270310
|
|
NM_000051.4(ATM):c.649A>C (p.Ile217Leu)
|
rs547045780
|
|
NM_000051.4(ATM):c.649A>T (p.Ile217Phe)
|
rs547045780
|
|
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)
|
rs1565369864
|
|
NM_000051.4(ATM):c.64G>A (p.Glu22Lys)
|
|
|
NM_000051.4(ATM):c.650_651dup (p.Gln218fs)
|
rs2079709372
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
NM_000051.4(ATM):c.653A>C (p.Gln218Pro)
|
rs1198686265
|
|
NM_000051.4(ATM):c.653A>G (p.Gln218Arg)
|
rs1198686265
|
|
NM_000051.4(ATM):c.654G>C (p.Gln218His)
|
rs1555066555
|
|
NM_000051.4(ATM):c.654G>T (p.Gln218His)
|
rs1555066555
|
|
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)
|
|
|
NM_000051.4(ATM):c.658G>A (p.Ala220Thr)
|
rs2135227395
|
|
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
|
|
|
NM_000051.4(ATM):c.659C>A (p.Ala220Glu)
|
|
|
NM_000051.4(ATM):c.660G>C (p.Ala220=)
|
|
|
NM_000051.4(ATM):c.660G>T (p.Ala220=)
|
rs763669136
|
|
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)
|
rs2135227474
|
|
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
|
|
|
NM_000051.4(ATM):c.662+13C>G
|
rs1565369998
|
|
NM_000051.4(ATM):c.662+13_662+14del
|
rs1064795370
|
|
NM_000051.4(ATM):c.662+18T>C
|
rs2079712629
|
|
NM_000051.4(ATM):c.662+18del
|
rs1565370014
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
NM_000051.4(ATM):c.662+243T>G
|
|
|
NM_000051.4(ATM):c.662+2T>C
|
|
|
NM_000051.4(ATM):c.662+3A>C
|
|
|
NM_000051.4(ATM):c.662+3A>G
|
rs2135227609
|
|
NM_000051.4(ATM):c.662+48C>T
|
|
|
NM_000051.4(ATM):c.662+4A>G
|
rs1555066570
|
|
NM_000051.4(ATM):c.662+5T>C
|
rs2079711059
|
|
NM_000051.4(ATM):c.662+6C>G
|
rs1565369978
|
|
NM_000051.4(ATM):c.662+7T>C
|
rs2135227769
|
|
NM_000051.4(ATM):c.662+8_662+12del
|
rs864622475
|
|
NM_000051.4(ATM):c.662+8_662+9dup
|
rs1591500816
|
|
NM_000051.4(ATM):c.662G>A (p.Arg221Lys)
|
rs776349773
|
|
NM_000051.4(ATM):c.663-10T>C
|
rs2135236361
|
|
NM_000051.4(ATM):c.663-12G>C
|
rs2135236291
|
|
NM_000051.4(ATM):c.663-12_663-9del
|
|
|
NM_000051.4(ATM):c.663-13T>C
|
|
|
NM_000051.4(ATM):c.663-144del
|
rs11298747
|
|
NM_000051.4(ATM):c.663-14T>G
|
|
|
NM_000051.4(ATM):c.663-15T>C
|
|
|
NM_000051.4(ATM):c.663-16G>A
|
rs2079751648
|
|
NM_000051.4(ATM):c.663-16G>C
|
|
|
NM_000051.4(ATM):c.663-18T>C
|
rs2135236192
|
|
NM_000051.4(ATM):c.663-194A>G
|
|
|
NM_000051.4(ATM):c.663-20G>A
|
|
|
NM_000051.4(ATM):c.663-20G>C
|
rs1555066898
|
|
NM_000051.4(ATM):c.663-269C>G
|
rs149955262
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.663-2A>T
|
|
|
NM_000051.4(ATM):c.663-2del
|
|
|
NM_000051.4(ATM):c.663-37C>T
|
|
|
NM_000051.4(ATM):c.663-3C>G
|
rs2079752506
|
|
NM_000051.4(ATM):c.663-3C>T
|
rs2079752506
|
|
NM_000051.4(ATM):c.663-3_663-2del
|
|
|
NM_000051.4(ATM):c.663-5C>A
|
rs1591503207
|
|
NM_000051.4(ATM):c.663-5C>T
|
rs1591503207
|
|
NM_000051.4(ATM):c.663-6T>A
|
rs1555066907
|
|
NM_000051.4(ATM):c.663-7T>C
|
rs2135236482
|
|
NM_000051.4(ATM):c.663-8C>G
|
|
|
NM_000051.4(ATM):c.663A>G (p.Arg221=)
|
rs1555066913
|
|
NM_000051.4(ATM):c.663A>T (p.Arg221Ser)
|
rs1555066913
|
|
NM_000051.4(ATM):c.664C>G (p.Gln222Glu)
|
rs1555066917
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.665A>C (p.Gln222Pro)
|
rs1565370993
|
|
NM_000051.4(ATM):c.665A>G (p.Gln222Arg)
|
|
|
NM_000051.4(ATM):c.666A>G (p.Gln222=)
|
|
|
NM_000051.4(ATM):c.666del (p.Glu223fs)
|
rs2135236778
|
|
NM_000051.4(ATM):c.668A>C (p.Glu223Ala)
|
|
|
NM_000051.4(ATM):c.66A>G (p.Glu22=)
|
rs1185359350
|
|
NM_000051.4(ATM):c.66del (p.Glu22fs)
|
rs2135006691
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
NM_000051.4(ATM):c.673A>C (p.Ser225Arg)
|
rs2079753846
|
|
NM_000051.4(ATM):c.675C>A (p.Ser225Arg)
|
rs1555066940
|
|
NM_000051.4(ATM):c.675C>G (p.Ser225Arg)
|
rs1555066940
|
|
NM_000051.4(ATM):c.675C>T (p.Ser225=)
|
rs1555066940
|
|
NM_000051.4(ATM):c.677C>G (p.Ser226Cys)
|
|
|
NM_000051.4(ATM):c.677C>T (p.Ser226Phe)
|
rs2079754211
|
|
NM_000051.4(ATM):c.678T>C (p.Ser226=)
|
rs2135237178
|
|
NM_000051.4(ATM):c.678T>G (p.Ser226=)
|
rs2135237178
|
|
NM_000051.4(ATM):c.67C>A (p.Arg23=)
|
rs746235533
|
|
NM_000051.4(ATM):c.67C>G (p.Arg23Gly)
|
rs746235533
|
|
NM_000051.4(ATM):c.680C>A (p.Ser227Ter)
|
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)
|
rs879254070
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
NM_000051.4(ATM):c.683G>A (p.Gly228Asp)
|
rs2079754821
|
|
NM_000051.4(ATM):c.683G>C (p.Gly228Ala)
|
rs2079754821
|
|
NM_000051.4(ATM):c.684T>C (p.Gly228=)
|
rs1591503368
|
|
NM_000051.4(ATM):c.684T>G (p.Gly228=)
|
|
|
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs)
|
rs2135237416
|
|
NM_000051.4(ATM):c.686T>C (p.Leu229Pro)
|
rs1591503381
|
|
NM_000051.4(ATM):c.687A>C (p.Leu229=)
|
rs3218706
|
|
NM_000051.4(ATM):c.687A>G (p.Leu229=)
|
rs3218706
|
|
NM_000051.4(ATM):c.687A>T (p.Leu229=)
|
|
|
NM_000051.4(ATM):c.689A>G (p.Asn230Ser)
|
rs876659494
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.68G>C (p.Arg23Pro)
|
rs587779858
|
|
NM_000051.4(ATM):c.691C>G (p.His231Asp)
|
rs1460757633
|
|
NM_000051.4(ATM):c.692A>C (p.His231Pro)
|
rs587782229
|
|
NM_000051.4(ATM):c.692A>T (p.His231Leu)
|
rs587782229
|
|
NM_000051.4(ATM):c.693T>C (p.His231=)
|
rs1555066993
|
|
NM_000051.4(ATM):c.694A>G (p.Ile232Val)
|
rs767739747
|
|
NM_000051.4(ATM):c.695T>A (p.Ile232Asn)
|
|
|
NM_000051.4(ATM):c.695T>C (p.Ile232Thr)
|
rs786203502
|
|
NM_000051.4(ATM):c.695T>G (p.Ile232Ser)
|
rs786203502
|
|
NM_000051.4(ATM):c.695_699del (p.Ile232fs)
|
|
|
NM_000051.4(ATM):c.695del (p.Ile232fs)
|
|
|
NM_000051.4(ATM):c.696C>G (p.Ile232Met)
|
rs1591503507
|
|
NM_000051.4(ATM):c.696C>T (p.Ile232=)
|
rs1591503507
|
|
NM_000051.4(ATM):c.697T>G (p.Leu233Val)
|
|
|
NM_000051.4(ATM):c.699A>G (p.Leu233=)
|
rs1555067006
|
|
NM_000051.4(ATM):c.699A>T (p.Leu233Phe)
|
rs1555067006
|
|
NM_000051.4(ATM):c.699AGC[1] (p.Ala235del)
|
rs1591503522
|
|
NM_000051.4(ATM):c.6T>A (p.Ser2Arg)
|
rs748158168
|
|
NM_000051.4(ATM):c.6T>G (p.Ser2Arg)
|
rs748158168
|
|
NM_000051.4(ATM):c.700G>T (p.Ala234Ser)
|
|
|
NM_000051.4(ATM):c.701C>T (p.Ala234Val)
|
|
|
NM_000051.4(ATM):c.703G>A (p.Ala235Thr)
|
rs76379269
|
|
NM_000051.4(ATM):c.703G>C (p.Ala235Pro)
|
rs76379269
|
|
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
|
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
NM_000051.4(ATM):c.705T>C (p.Ala235=)
|
rs756175724
|
|
NM_000051.4(ATM):c.705T>G (p.Ala235=)
|
rs756175724
|
|
NM_000051.4(ATM):c.706C>G (p.Leu236Val)
|
rs886042866
|
|
NM_000051.4(ATM):c.706C>T (p.Leu236Phe)
|
rs886042866
|
|
NM_000051.4(ATM):c.706dup (p.Leu236fs)
|
rs2135238203
|
|
NM_000051.4(ATM):c.707T>A (p.Leu236His)
|
rs876659813
|
|
NM_000051.4(ATM):c.707T>C (p.Leu236Pro)
|
rs876659813
|
|
NM_000051.4(ATM):c.707T>G (p.Leu236Arg)
|
rs876659813
|
|
NM_000051.4(ATM):c.708T>C (p.Leu236=)
|
|
|
NM_000051.4(ATM):c.708del (p.Thr237fs)
|
rs1555067034
|
|
NM_000051.4(ATM):c.709A>T (p.Thr237Ser)
|
rs376529329
|
|
NM_000051.4(ATM):c.709dup (p.Thr237fs)
|
rs2079758064
|
|
NM_000051.4(ATM):c.70A>G (p.Lys24Glu)
|
rs1469464426
|
|
NM_000051.4(ATM):c.710C>T (p.Thr237Ile)
|
|
|
NM_000051.4(ATM):c.710_721del (p.Thr237_Leu240del)
|
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
NM_000051.4(ATM):c.711T>C (p.Thr237=)
|
rs1294159555
|
|
NM_000051.4(ATM):c.712A>T (p.Ile238Phe)
|
|
|
NM_000051.4(ATM):c.713T>A (p.Ile238Asn)
|
rs149116878
|
|
NM_000051.4(ATM):c.716T>G (p.Phe239Cys)
|
|
|
NM_000051.4(ATM):c.716del (p.Phe239fs)
|
rs2079758855
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
NM_000051.4(ATM):c.718C>G (p.Leu240Val)
|
|
|
NM_000051.4(ATM):c.719T>G (p.Leu240Arg)
|
rs876658753
|
|
NM_000051.4(ATM):c.71A>T (p.Lys24Met)
|
rs1060501710
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
NM_000051.4(ATM):c.72+12C>T
|
|
|
NM_000051.4(ATM):c.72+12_72+15del
|
rs2135007520
|
|
NM_000051.4(ATM):c.72+15A>C
|
|
|
NM_000051.4(ATM):c.72+16A>C
|
rs1565344289
|
|
NM_000051.4(ATM):c.72+17A>G
|
rs2135007789
|
|
NM_000051.4(ATM):c.72+19T>A
|
rs776457787
|
|
NM_000051.4(ATM):c.72+19T>C
|
|
|
NM_000051.4(ATM):c.72+1G>T
|
rs786204088
|
|
NM_000051.4(ATM):c.72+1del
|
|
|
NM_000051.4(ATM):c.72+20C>A
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+20C>G
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+20C>T
|
rs1555053997
|
|
NM_000051.4(ATM):c.72+22A>T
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
NM_000051.4(ATM):c.72+2del
|
rs1555053972
|
|
NM_000051.4(ATM):c.72+3A>C
|
rs2135007098
|
|
NM_000051.4(ATM):c.72+4G>A
|
rs1458884973
|
|
NM_000051.4(ATM):c.72+5_72+6delinsCTT
|
rs1555053982
|
|
NM_000051.4(ATM):c.72+6A>G
|
rs1057520800
|
|
NM_000051.4(ATM):c.72+7A>G
|
|
|
NM_000051.4(ATM):c.72+7A>T
|
|
|
NM_000051.4(ATM):c.72+8A>G
|
rs2135007393
|
|
NM_000051.4(ATM):c.72+8del
|
|
|
NM_000051.4(ATM):c.72+9T>C
|
rs2135007450
|
|
NM_000051.4(ATM):c.720C>T (p.Leu240=)
|
rs1254593530
|
|
NM_000051.4(ATM):c.724A>G (p.Thr242Ala)
|
rs1555067068
|
|
NM_000051.4(ATM):c.724A>T (p.Thr242Ser)
|
rs1555067068
|
|
NM_000051.4(ATM):c.725C>A (p.Thr242Asn)
|
rs2135238871
|
|
NM_000051.4(ATM):c.726T>C (p.Thr242=)
|
rs1555067070
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
NM_000051.4(ATM):c.729_741del (p.Leu243fs)
|
rs2079760023
|
|
NM_000051.4(ATM):c.72G>A (p.Lys24=)
|
|
|
NM_000051.4(ATM):c.72G>C (p.Lys24Asn)
|
|
|
NM_000051.4(ATM):c.73-11T>A
|
rs2135009950
|
|
NM_000051.4(ATM):c.73-12T>C
|
rs2078815559
|
|
NM_000051.4(ATM):c.73-14C>A
|
rs766284348
|
|
NM_000051.4(ATM):c.73-14C>T
|
|
|
NM_000051.4(ATM):c.73-18T>G
|
|
|
NM_000051.4(ATM):c.73-19A>G
|
rs1555054028
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
NM_000051.4(ATM):c.73-1G>C
|
|
|
NM_000051.4(ATM):c.73-2A>G
|
|
|
NM_000051.4(ATM):c.73-3C>G
|
rs1555054039
|
|
NM_000051.4(ATM):c.73-3C>T
|
rs1555054039
|
|
NM_000051.4(ATM):c.73-3del
|
rs1565344403
|
|
NM_000051.4(ATM):c.73-4T>C
|
rs1565344387
|
|
NM_000051.4(ATM):c.73-4T>G
|
rs1565344387
|
|
NM_000051.4(ATM):c.73-4dup
|
rs2078815843
|
|
NM_000051.4(ATM):c.73-9T>A
|
rs1591446620
|
|
NM_000051.4(ATM):c.73-9T>C
|
rs1591446620
|
|
NM_000051.4(ATM):c.730G>A (p.Ala244Thr)
|
rs2079760518
|
|
NM_000051.4(ATM):c.730G>C (p.Ala244Pro)
|
rs2079760518
|
|
NM_000051.4(ATM):c.730G>T (p.Ala244Ser)
|
|
|
NM_000051.4(ATM):c.732T>A (p.Ala244=)
|
rs2135239123
|
|
NM_000051.4(ATM):c.732T>C (p.Ala244=)
|
|
|
NM_000051.4(ATM):c.733G>A (p.Val245Ile)
|
rs1555067081
|
|
NM_000051.4(ATM):c.735C>G (p.Val245=)
|
rs3218674
|
|
NM_000051.4(ATM):c.736A>T (p.Asn246Tyr)
|
|
|
NM_000051.4(ATM):c.737A>C (p.Asn246Thr)
|
rs781023264
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
NM_000051.4(ATM):c.737_738insAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGACTTTGGCTGTCAA (p.Asn246fs)
|
|
|
NM_000051.4(ATM):c.737_742del (p.Asn246_Phe247del)
|
rs1555067088
|
|
NM_000051.4(ATM):c.738C>T (p.Asn246=)
|
|
|
NM_000051.4(ATM):c.739T>A (p.Phe247Ile)
|
rs2135239339
|
|
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
|
|
|
NM_000051.4(ATM):c.741T>C (p.Phe247=)
|
rs876659081
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
|
|
|
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)
|
rs769166447
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000051.4(ATM):c.744A>C (p.Arg248=)
|
rs1591503905
|
|
NM_000051.4(ATM):c.745A>G (p.Ile249Val)
|
rs1060501636
|
|
NM_000051.4(ATM):c.748C>A (p.Arg250=)
|
rs772821016
|
|
NM_000051.4(ATM):c.748C>G (p.Arg250Gly)
|
rs772821016
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.749G>C (p.Arg250Pro)
|
rs56123940
|
|
NM_000051.4(ATM):c.74A>G (p.Lys25Arg)
|
rs751310537
|
|
NM_000051.4(ATM):c.750A>C (p.Arg250=)
|
|
|
NM_000051.4(ATM):c.750A>G (p.Arg250=)
|
rs1555067112
|
|
NM_000051.4(ATM):c.751G>A (p.Val251Met)
|
rs1057519145
|
|
NM_000051.4(ATM):c.752T>C (p.Val251Ala)
|
rs1591503977
|
|
NM_000051.4(ATM):c.752T>G (p.Val251Gly)
|
rs1591503977
|
|
NM_000051.4(ATM):c.753del (p.Cys252fs)
|
rs2135239839
|
|
NM_000051.4(ATM):c.756T>C (p.Cys252=)
|
rs2079762952
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.757G>A (p.Glu253Lys)
|
rs2135239944
|
|
NM_000051.4(ATM):c.757G>T (p.Glu253Ter)
|
|
|
NM_000051.4(ATM):c.758A>G (p.Glu253Gly)
|
rs2079763142
|
|
NM_000051.4(ATM):c.759A>G (p.Glu253=)
|
rs2135239992
|
|
NM_000051.4(ATM):c.75A>G (p.Lys25=)
|
rs1591446716
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
NM_000051.4(ATM):c.761T>C (p.Leu254Ser)
|
rs776428526
|
|
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
|
|
|
NM_000051.4(ATM):c.763G>C (p.Gly255Arg)
|
rs770911662
|
|
NM_000051.4(ATM):c.764G>A (p.Gly255Glu)
|
rs2135240183
|
|
NM_000051.4(ATM):c.764_766del (p.Gly255del)
|
rs766716803
|
|
NM_000051.4(ATM):c.765A>C (p.Gly255=)
|
rs1591504056
|
|
NM_000051.4(ATM):c.765A>G (p.Gly255=)
|
rs1591504056
|
|
NM_000051.4(ATM):c.766G>A (p.Asp256Asn)
|
rs2079764061
|
|
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr)
|
rs2079764061
|
|
NM_000051.4(ATM):c.767A>G (p.Asp256Gly)
|
rs907941927
|
|
NM_000051.4(ATM):c.767A>T (p.Asp256Val)
|
rs907941927
|
|
NM_000051.4(ATM):c.768T>C (p.Asp256=)
|
|
|
NM_000051.4(ATM):c.769G>A (p.Glu257Lys)
|
|
|
NM_000051.4(ATM):c.769G>C (p.Glu257Gln)
|
rs1565371596
|
|
NM_000051.4(ATM):c.769G>T (p.Glu257Ter)
|
rs1565371596
|
|
NM_000051.4(ATM):c.76G>T (p.Glu26Ter)
|
|
|
NM_000051.4(ATM):c.76_79del (p.Glu26fs)
|
rs2078816952
|
|
NM_000051.4(ATM):c.771A>C (p.Glu257Asp)
|
|
|
NM_000051.4(ATM):c.771A>G (p.Glu257=)
|
rs786201068
|
|
NM_000051.4(ATM):c.773T>A (p.Ile258Asn)
|
rs730881337
|
|
NM_000051.4(ATM):c.773T>G (p.Ile258Ser)
|
rs730881337
|
|
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)
|
|
|
NM_000051.4(ATM):c.776T>A (p.Leu259His)
|
rs1565371619
|
|
NM_000051.4(ATM):c.776T>C (p.Leu259Pro)
|
|
|
NM_000051.4(ATM):c.777T>A (p.Leu259=)
|
|
|
NM_000051.4(ATM):c.777T>C (p.Leu259=)
|
rs2135240556
|
|
NM_000051.4(ATM):c.778C>A (p.Pro260Thr)
|
rs863224581
|
|
NM_000051.4(ATM):c.778C>G (p.Pro260Ala)
|
rs863224581
|
|
NM_000051.4(ATM):c.778C>T (p.Pro260Ser)
|
|
|
NM_000051.4(ATM):c.779C>A (p.Pro260His)
|
rs961262202
|
|
NM_000051.4(ATM):c.779C>T (p.Pro260Leu)
|
rs961262202
|
|
NM_000051.4(ATM):c.77A>G (p.Glu26Gly)
|
rs1555054052
|
|
NM_000051.4(ATM):c.780C>T (p.Pro260=)
|
rs1591504144
|
|
NM_000051.4(ATM):c.781A>T (p.Thr261Ser)
|
rs786203410
|
|
NM_000051.4(ATM):c.782C>G (p.Thr261Ser)
|
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.785T>C (p.Leu262Ser)
|
rs864622163
|
|
NM_000051.4(ATM):c.785T>G (p.Leu262Trp)
|
rs864622163
|
|
NM_000051.4(ATM):c.788T>A (p.Leu263His)
|
rs2079765536
|
|
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
|
|
|
NM_000051.4(ATM):c.78A>G (p.Glu26=)
|
rs786202953
|
|
NM_000051.4(ATM):c.790T>A (p.Tyr264Asn)
|
rs1591504199
|
|
NM_000051.4(ATM):c.790T>C (p.Tyr264His)
|
|
|
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)
|
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.791A>G (p.Tyr264Cys)
|
rs730881338
|
|
NM_000051.4(ATM):c.792T>C (p.Tyr264=)
|
|
|
NM_000051.4(ATM):c.793A>G (p.Ile265Val)
|
rs587781973
|
|
NM_000051.4(ATM):c.795T>A (p.Ile265=)
|
rs1290222131
|
|
NM_000051.4(ATM):c.795T>C (p.Ile265=)
|
rs1290222131
|
|
NM_000051.4(ATM):c.795T>G (p.Ile265Met)
|
rs1290222131
|
|
NM_000051.4(ATM):c.798G>A (p.Trp266Ter)
|
rs2079766417
|
|
NM_000051.4(ATM):c.798G>T (p.Trp266Cys)
|
rs2079766417
|
|
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)
|
rs876660962
|
|
NM_000051.4(ATM):c.79G>C (p.Val27Leu)
|
rs754770960
|
|
NM_000051.4(ATM):c.79G>T (p.Val27Phe)
|
rs754770960
|
|
NM_000051.4(ATM):c.7C>T (p.Leu3=)
|
|
|
NM_000051.4(ATM):c.800C>G (p.Thr267Ser)
|
rs2135241349
|
|
NM_000051.4(ATM):c.800C>T (p.Thr267Ile)
|
|
|
NM_000051.4(ATM):c.801T>C (p.Thr267=)
|
rs1555067173
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.805C>T (p.His269Tyr)
|
rs1591504278
|
|
NM_000051.4(ATM):c.805_808dup (p.Arg270delinsThrTer)
|
|
|
NM_000051.4(ATM):c.806A>G (p.His269Arg)
|
rs1565371740
|
|
NM_000051.4(ATM):c.806A>T (p.His269Leu)
|
|
|
NM_000051.4(ATM):c.807T>G (p.His269Gln)
|
rs2135241561
|
|
NM_000051.4(ATM):c.808A>G (p.Arg270Gly)
|
rs2135241589
|
|
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)
|
rs587781857
|
|
NM_000051.4(ATM):c.80T>A (p.Val27Asp)
|
rs2078817440
|
|
NM_000051.4(ATM):c.80T>C (p.Val27Ala)
|
rs2078817440
|
|
NM_000051.4(ATM):c.810G>C (p.Arg270Ser)
|
rs1565371772
|
|
NM_000051.4(ATM):c.811C>G (p.Leu271Val)
|
rs730881339
|
|
NM_000051.4(ATM):c.811C>T (p.Leu271Phe)
|
rs730881339
|
|
NM_000051.4(ATM):c.812T>C (p.Leu271Pro)
|
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
NM_000051.4(ATM):c.814A>C (p.Asn272His)
|
rs1565371810
|
|
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
|
|
|
NM_000051.4(ATM):c.815A>G (p.Asn272Ser)
|
rs1555067189
|
|
NM_000051.4(ATM):c.815A>T (p.Asn272Ile)
|
rs1555067189
|
|
NM_000051.4(ATM):c.816_829dup (p.Glu277delinsValIleLeuTer)
|
|
|
NM_000051.4(ATM):c.81T>G (p.Val27=)
|
rs2135010830
|
|
NM_000051.4(ATM):c.820T>G (p.Ser274Ala)
|
rs2079767927
|
|
NM_000051.4(ATM):c.821C>A (p.Ser274Tyr)
|
|
|
NM_000051.4(ATM):c.821C>G (p.Ser274Cys)
|
rs1591504377
|
|
NM_000051.4(ATM):c.821C>T (p.Ser274Phe)
|
rs1591504377
|
|
NM_000051.4(ATM):c.823T>C (p.Leu275=)
|
|
|
NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTATGATTCTTT (p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuTer)
|
rs2135241864
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.825A>T (p.Leu275Phe)
|
rs2135242080
|
|
NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer)
|
rs1591504396
|
|
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.828del (p.Glu277fs)
|
|
|
NM_000051.4(ATM):c.829del (p.Glu277fs)
|
|
|
NM_000051.4(ATM):c.830A>G (p.Glu277Gly)
|
rs2079768905
|
|
NM_000051.4(ATM):c.832G>A (p.Val278Ile)
|
rs761005590
|
|
NM_000051.4(ATM):c.832G>T (p.Val278Phe)
|
rs761005590
|
|
NM_000051.4(ATM):c.834C>A (p.Val278=)
|
|
|
NM_000051.4(ATM):c.834C>G (p.Val278=)
|
rs2079769316
|
|
NM_000051.4(ATM):c.835A>G (p.Ile279Val)
|
rs1555067210
|
|
NM_000051.4(ATM):c.835A>T (p.Ile279Phe)
|
|
|
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
|
|
|
NM_000051.4(ATM):c.837T>A (p.Ile279=)
|
rs2135242369
|
|
NM_000051.4(ATM):c.837T>C (p.Ile279=)
|
rs2135242369
|
|
NM_000051.4(ATM):c.838A>G (p.Ile280Val)
|
rs764048041
|
|
NM_000051.4(ATM):c.840T>G (p.Ile280Met)
|
rs1591504482
|
|
NM_000051.4(ATM):c.841G>A (p.Glu281Lys)
|
rs1591504491
|
|
NM_000051.4(ATM):c.841G>T (p.Glu281Ter)
|
rs1591504491
|
|
NM_000051.4(ATM):c.841_845del (p.Glu281fs)
|
|
|
NM_000051.4(ATM):c.843A>G (p.Glu281=)
|
rs1057523419
|
|
NM_000051.4(ATM):c.844T>C (p.Leu282=)
|
rs1565371944
|
|
NM_000051.4(ATM):c.845T>A (p.Leu282Ter)
|
|
|
NM_000051.4(ATM):c.845T>G (p.Leu282Ter)
|
rs2135242595
|
|
NM_000051.4(ATM):c.846A>G (p.Leu282=)
|
rs754008850
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
NM_000051.4(ATM):c.847T>G (p.Phe283Val)
|
rs1591504549
|
|
NM_000051.4(ATM):c.849T>A (p.Phe283Leu)
|
rs1060501617
|
|
NM_000051.4(ATM):c.84G>A (p.Glu28=)
|
rs1591446775
|
|
NM_000051.4(ATM):c.84G>T (p.Glu28Asp)
|
|
|
NM_000051.4(ATM):c.84_85del (p.Lys29fs)
|
rs2078817543
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.852A>T (p.Gln284His)
|
rs140367473
|
|
NM_000051.4(ATM):c.854T>C (p.Leu285Pro)
|
rs864622605
|
|
NM_000051.4(ATM):c.854T>G (p.Leu285Arg)
|
rs864622605
|
|
NM_000051.4(ATM):c.855G>A (p.Leu285=)
|
rs863224299
|
|
NM_000051.4(ATM):c.855G>C (p.Leu285=)
|
rs863224299
|
|
NM_000051.4(ATM):c.855_856delinsCT (p.Gln286Ter)
|
rs2079771517
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
NM_000051.4(ATM):c.856C>A (p.Gln286Lys)
|
|
|
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
NM_000051.4(ATM):c.857A>C (p.Gln286Pro)
|
rs1591504622
|
|
NM_000051.4(ATM):c.857A>G (p.Gln286Arg)
|
rs1591504622
|
|
NM_000051.4(ATM):c.859A>G (p.Ile287Val)
|
|
|
NM_000051.4(ATM):c.862T>C (p.Tyr288His)
|
rs1565372057
|
|
NM_000051.4(ATM):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000051.4(ATM):c.864T>C (p.Tyr288=)
|
|
|
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer)
|
rs1565372075
|
|
NM_000051.4(ATM):c.865A>C (p.Ile289Leu)
|
rs1555067259
|
|
NM_000051.4(ATM):c.865A>G (p.Ile289Val)
|
rs1555067259
|
|
NM_000051.4(ATM):c.866T>A (p.Ile289Asn)
|
|
|
NM_000051.4(ATM):c.866T>C (p.Ile289Thr)
|
rs35261362
|
|
NM_000051.4(ATM):c.867C>A (p.Ile289=)
|
|
|
NM_000051.4(ATM):c.867C>T (p.Ile289=)
|
|
|
NM_000051.4(ATM):c.868C>A (p.His290Asn)
|
rs1591504685
|
|
NM_000051.4(ATM):c.868C>T (p.His290Tyr)
|
rs1591504685
|
|
NM_000051.4(ATM):c.869A>C (p.His290Pro)
|
rs2135243301
|
|
NM_000051.4(ATM):c.869A>G (p.His290Arg)
|
rs2135243301
|
|
NM_000051.4(ATM):c.869ATC[1] (p.His291del)
|
rs2135243288
|
|
NM_000051.4(ATM):c.86A>G (p.Lys29Arg)
|
|
|
NM_000051.4(ATM):c.86_89del (p.Lys29fs)
|
|
|
NM_000051.4(ATM):c.870T>G (p.His290Gln)
|
|
|
NM_000051.4(ATM):c.871C>G (p.His291Asp)
|
rs1555067280
|
|
NM_000051.4(ATM):c.871C>T (p.His291Tyr)
|
|
|
NM_000051.4(ATM):c.871del (p.His291fs)
|
|
|
NM_000051.4(ATM):c.872A>G (p.His291Arg)
|
rs1555067285
|
|
NM_000051.4(ATM):c.873T>C (p.His291=)
|
rs1591504717
|
|
NM_000051.4(ATM):c.873del (p.Pro292fs)
|
|
|
NM_000051.4(ATM):c.874C>A (p.Pro292Thr)
|
|
|
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)
|
|
|
NM_000051.4(ATM):c.875C>G (p.Pro292Arg)
|
rs747727055
|
|
NM_000051.4(ATM):c.875del (p.Pro292fs)
|
|
|
NM_000051.4(ATM):c.876G>T (p.Pro292=)
|
rs755860432
|
|
NM_000051.4(ATM):c.877A>G (p.Lys293Glu)
|
rs1057516442
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
NM_000051.4(ATM):c.879A>G (p.Lys293=)
|
rs864622069
|
|
NM_000051.4(ATM):c.879del (p.Gly294fs)
|
|
|
NM_000051.4(ATM):c.87A>G (p.Lys29=)
|
rs1591446799
|
|
NM_000051.4(ATM):c.881G>A (p.Gly294Glu)
|
rs1370428326
|
|
NM_000051.4(ATM):c.881G>T (p.Gly294Val)
|
|
|
NM_000051.4(ATM):c.884C>T (p.Ala295Val)
|
rs1044092081
|
|
NM_000051.4(ATM):c.885C>T (p.Ala295=)
|
rs2135243805
|
|
NM_000051.4(ATM):c.885del (p.Thr297fs)
|
|
|
NM_000051.4(ATM):c.886A>C (p.Lys296Gln)
|
|
|
NM_000051.4(ATM):c.886A>G (p.Lys296Glu)
|
rs1591504793
|
|
NM_000051.4(ATM):c.887A>G (p.Lys296Arg)
|
rs1064795297
|
|
NM_000051.4(ATM):c.888A>C (p.Lys296Asn)
|
rs1023530965
|
|
NM_000051.4(ATM):c.888A>G (p.Lys296=)
|
rs1023530965
|
|
NM_000051.4(ATM):c.889A>G (p.Thr297Ala)
|
rs1340517984
|
|
NM_000051.4(ATM):c.889del (p.Thr297fs)
|
|
|
NM_000051.4(ATM):c.88T>A (p.Phe30Ile)
|
rs2078817952
|
|
NM_000051.4(ATM):c.890C>T (p.Thr297Ile)
|
rs969263740
|
|
NM_000051.4(ATM):c.891C>G (p.Thr297=)
|
rs575285986
|
|
NM_000051.4(ATM):c.891C>T (p.Thr297=)
|
|
|
NM_000051.4(ATM):c.892C>T (p.Gln298Ter)
|
rs2079775247
|
|
NM_000051.4(ATM):c.893A>C (p.Gln298Pro)
|
rs2079775401
|
|
NM_000051.4(ATM):c.894A>C (p.Gln298His)
|
rs1555067327
|
|
NM_000051.4(ATM):c.894A>G (p.Gln298=)
|
|
|
NM_000051.4(ATM):c.895G>A (p.Glu299Lys)
|
|
|
NM_000051.4(ATM):c.895G>C (p.Glu299Gln)
|
rs1273332798
|
|
NM_000051.4(ATM):c.895G>T (p.Glu299Ter)
|
|
|
NM_000051.4(ATM):c.896A>G (p.Glu299Gly)
|
rs587779876
|
|
NM_000051.4(ATM):c.896A>T (p.Glu299Val)
|
rs587779876
|
|
NM_000051.4(ATM):c.897A>G (p.Glu299=)
|
rs2135244327
|
|
NM_000051.4(ATM):c.898A>G (p.Lys300Glu)
|
rs2135244347
|
|
NM_000051.4(ATM):c.89T>A (p.Phe30Tyr)
|
rs876658520
|
|
NM_000051.4(ATM):c.89T>G (p.Phe30Cys)
|
rs876658520
|
|
NM_000051.4(ATM):c.8T>C (p.Leu3Pro)
|
rs1555053861
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.900dup (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.901+10A>T
|
rs2135244818
|
|
NM_000051.4(ATM):c.901+11A>T
|
|
|
NM_000051.4(ATM):c.901+14G>A
|
rs2079777585
|
|
NM_000051.4(ATM):c.901+14del
|
rs1064795038
|
|
NM_000051.4(ATM):c.901+15T>A
|
rs2135244985
|
|
NM_000051.4(ATM):c.901+17T>A
|
|
|
NM_000051.4(ATM):c.901+17T>C
|
rs774302699
|
|
NM_000051.4(ATM):c.901+18A>G
|
rs1555067368
|
|
NM_000051.4(ATM):c.901+1G>C
|
rs748840480
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
NM_000051.4(ATM):c.901+1_901+26del
|
rs1380265721
|
|
NM_000051.4(ATM):c.901+20T>C
|
rs2135245162
|
|
NM_000051.4(ATM):c.901+2T>C
|
rs1218815157
|
|
NM_000051.4(ATM):c.901+2T>G
|
|
|
NM_000051.4(ATM):c.901+2delinsAA
|
rs1555067355
|
|
NM_000051.4(ATM):c.901+3A>G
|
rs786203070
|
|
NM_000051.4(ATM):c.901+3A>T
|
rs786203070
|
|
NM_000051.4(ATM):c.901+4T>A
|
|
|
NM_000051.4(ATM):c.901+4T>G
|
rs1591504958
|
|
NM_000051.4(ATM):c.901+6A>C
|
rs1555067357
|
|
NM_000051.4(ATM):c.901+7A>C
|
|
|
NM_000051.4(ATM):c.901+8G>A
|
rs1468806933
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
NM_000051.4(ATM):c.901G>C (p.Gly301Arg)
|
rs1064797160
|
|
NM_000051.4(ATM):c.902-10T>C
|
rs2135264378
|
|
NM_000051.4(ATM):c.902-10del
|
rs1565374819
|
|
NM_000051.4(ATM):c.902-15T>C
|
rs2135264272
|
|
NM_000051.4(ATM):c.902-17A>T
|
|
|
NM_000051.4(ATM):c.902-18T>C
|
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
NM_000051.4(ATM):c.902-20T>G
|
|
|
NM_000051.4(ATM):c.902-2A>G
|
rs2079877131
|
|
NM_000051.4(ATM):c.902-2A>T
|
rs2079877131
|
|
NM_000051.4(ATM):c.902-3C>A
|
|
|
NM_000051.4(ATM):c.902-3C>T
|
|
|
NM_000051.4(ATM):c.902-6T>A
|
rs2079876827
|
|
NM_000051.4(ATM):c.902-7A>G
|
rs2135264458
|
|
NM_000051.4(ATM):c.902-8G>T
|
|
|
NM_000051.4(ATM):c.902-9G>A
|
|
|
NM_000051.4(ATM):c.902G>T (p.Gly301Val)
|
rs202208861
|
|
NM_000051.4(ATM):c.903T>A (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.903T>C (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.903T>G (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.905C>G (p.Ala302Gly)
|
rs778442248
|
|
NM_000051.4(ATM):c.905C>T (p.Ala302Val)
|
rs778442248
|
|
NM_000051.4(ATM):c.906T>C (p.Ala302=)
|
|
|
NM_000051.4(ATM):c.907dup (p.Tyr303fs)
|
|
|
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)
|
|
|
NM_000051.4(ATM):c.909T>C (p.Tyr303=)
|
rs1555068288
|
|
NM_000051.4(ATM):c.90T>C (p.Phe30=)
|
|
|
NM_000051.4(ATM):c.90del (p.Phe30fs)
|
rs2135011143
|
|
NM_000051.4(ATM):c.911A>C (p.Glu304Ala)
|
rs2135264712
|
|
NM_000051.4(ATM):c.911A>G (p.Glu304Gly)
|
|
|
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)
|
|
|
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
|
|
|
NM_000051.4(ATM):c.914C>T (p.Ser305Leu)
|
rs1591510485
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
NM_000051.4(ATM):c.915A>C (p.Ser305=)
|
|
|
NM_000051.4(ATM):c.916A>C (p.Thr306Pro)
|
|
|
NM_000051.4(ATM):c.916A>G (p.Thr306Ala)
|
rs1555068304
|
|
NM_000051.4(ATM):c.917C>A (p.Thr306Lys)
|
rs1565374923
|
|
NM_000051.4(ATM):c.917C>G (p.Thr306Arg)
|
rs1565374923
|
|
NM_000051.4(ATM):c.917C>T (p.Thr306Ile)
|
rs1565374923
|
|
NM_000051.4(ATM):c.919A>T (p.Lys307Ter)
|
|
|
NM_000051.4(ATM):c.920_921del (p.Lys307fs)
|
rs2135264840
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
NM_000051.4(ATM):c.922T>A (p.Trp308Arg)
|
rs2079878501
|
|
NM_000051.4(ATM):c.922T>C (p.Trp308Arg)
|
rs2079878501
|
|
NM_000051.4(ATM):c.923G>A (p.Trp308Ter)
|
rs1591510553
|
|
NM_000051.4(ATM):c.925A>C (p.Arg309=)
|
rs876659841
|
|
NM_000051.4(ATM):c.925A>G (p.Arg309Gly)
|
rs876659841
|
|
NM_000051.4(ATM):c.925A>T (p.Arg309Ter)
|
|
|
NM_000051.4(ATM):c.926G>A (p.Arg309Lys)
|
|
|
NM_000051.4(ATM):c.926G>T (p.Arg309Ile)
|
|
|
NM_000051.4(ATM):c.927A>C (p.Arg309Ser)
|
|
|
NM_000051.4(ATM):c.927A>G (p.Arg309=)
|
rs935834518
|
|
NM_000051.4(ATM):c.927A>T (p.Arg309Ser)
|
rs935834518
|
|
NM_000051.4(ATM):c.928A>C (p.Ser310Arg)
|
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
NM_000051.4(ATM):c.929G>A (p.Ser310Asn)
|
rs2079879169
|
|
NM_000051.4(ATM):c.929del (p.Ser310fs)
|
rs1591510597
|
|
NM_000051.4(ATM):c.932T>C (p.Ile311Thr)
|
rs1462079674
|
|
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
|
|
|
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTT (p.Leu312fs)
|
|
|
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT (p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaSerAlaArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaLeu)
|
rs2079879604
|
|
NM_000051.4(ATM):c.935dup (p.Leu312fs)
|
rs2079879604
|
|
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.937T>C (p.Tyr313His)
|
|
|
NM_000051.4(ATM):c.938A>G (p.Tyr313Cys)
|
rs2135265521
|
|
NM_000051.4(ATM):c.939C>T (p.Tyr313=)
|
rs1387179773
|
|
NM_000051.4(ATM):c.93G>A (p.Lys31=)
|
rs863224583
|
|
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)
|
rs863224583
|
|
NM_000051.4(ATM):c.940A>C (p.Asn314His)
|
rs2079880133
|
|
NM_000051.4(ATM):c.941A>G (p.Asn314Ser)
|
rs886047610
|
|
NM_000051.4(ATM):c.942C>T (p.Asn314=)
|
|
|
NM_000051.4(ATM):c.943T>C (p.Leu315=)
|
|
|
NM_000051.4(ATM):c.944del (p.Leu315fs)
|
rs1565375035
|
|
NM_000051.4(ATM):c.945A>G (p.Leu315=)
|
|
|
NM_000051.4(ATM):c.945dup (p.Tyr316fs)
|
rs2135265770
|
|
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn)
|
rs142317485
|
|
NM_000051.4(ATM):c.946T>G (p.Tyr316Asp)
|
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
NM_000051.4(ATM):c.947_951del (p.Tyr316fs)
|
rs1565375055
|
|
NM_000051.4(ATM):c.948T>C (p.Tyr316=)
|
rs775091961
|
|
NM_000051.4(ATM):c.949G>A (p.Asp317Asn)
|
|
|
NM_000051.4(ATM):c.949G>C (p.Asp317His)
|
|
|
NM_000051.4(ATM):c.949G>T (p.Asp317Tyr)
|
rs1445292591
|
|
NM_000051.4(ATM):c.94C>A (p.Arg32Ser)
|
rs148061139
|
|
NM_000051.4(ATM):c.94C>G (p.Arg32Gly)
|
|
|
NM_000051.4(ATM):c.951T>C (p.Asp317=)
|
|
|
NM_000051.4(ATM):c.951T>G (p.Asp317Glu)
|
rs876659199
|
|
NM_000051.4(ATM):c.952C>G (p.Leu318Val)
|
|
|
NM_000051.4(ATM):c.953T>G (p.Leu318Arg)
|
|
|
NM_000051.4(ATM):c.954G>A (p.Leu318=)
|
rs1591510739
|
|
NM_000051.4(ATM):c.954_956del (p.Leu319del)
|
rs2135266014
|
|
NM_000051.4(ATM):c.956T>C (p.Leu319Pro)
|
|
|
NM_000051.4(ATM):c.957A>G (p.Leu319=)
|
rs1060501542
|
|
NM_000051.4(ATM):c.959T>A (p.Val320Glu)
|
|
|
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)
|
rs368161489
|
|
NM_000051.4(ATM):c.95del (p.Arg32fs)
|
|
|
NM_000051.4(ATM):c.961A>G (p.Asn321Asp)
|
rs1591510765
|
|
NM_000051.4(ATM):c.962A>G (p.Asn321Ser)
|
rs1555068398
|
|
NM_000051.4(ATM):c.963T>C (p.Asn321=)
|
rs863224301
|
|
NM_000051.4(ATM):c.964G>A (p.Glu322Lys)
|
|
|
NM_000051.4(ATM):c.964_968del (p.Glu322fs)
|
rs1555068404
|
|
NM_000051.4(ATM):c.966G>A (p.Glu322=)
|
|
|
NM_000051.4(ATM):c.966G>C (p.Glu322Asp)
|
|
|
NM_000051.4(ATM):c.967del (p.Glu322_Ile323insTer)
|
rs2135266498
|
|
NM_000051.4(ATM):c.968T>A (p.Ile323Lys)
|
rs2079882407
|
|
NM_000051.4(ATM):c.968T>G (p.Ile323Arg)
|
rs2079882407
|
|
NM_000051.4(ATM):c.969A>G (p.Ile323Met)
|
rs1565375220
|
|
NM_000051.4(ATM):c.96C>T (p.Arg32=)
|
rs1305090923
|
|
NM_000051.4(ATM):c.970A>C (p.Ser324Arg)
|
|
|
NM_000051.4(ATM):c.970dup (p.Ser324fs)
|
|
|
NM_000051.4(ATM):c.971G>A (p.Ser324Asn)
|
rs1355502804
|
|
NM_000051.4(ATM):c.972_979del (p.Ser324fs)
|
rs2135266573
|
|
NM_000051.4(ATM):c.974A>C (p.His325Pro)
|
rs1565375244
|
|
NM_000051.4(ATM):c.974A>G (p.His325Arg)
|
rs1565375244
|
|
NM_000051.4(ATM):c.974A>T (p.His325Leu)
|
rs1565375244
|
|
NM_000051.4(ATM):c.975T>A (p.His325Gln)
|
rs746825207
|
|
NM_000051.4(ATM):c.975T>C (p.His325=)
|
rs746825207
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
NM_000051.4(ATM):c.978A>G (p.Ile326Met)
|
rs1555068424
|
|
NM_000051.4(ATM):c.978del (p.Ile326fs)
|
rs1565375308
|
|
NM_000051.4(ATM):c.979G>A (p.Gly327Arg)
|
|
|
NM_000051.4(ATM):c.980G>A (p.Gly327Glu)
|
rs1591510902
|
|
NM_000051.4(ATM):c.980del (p.Gly327fs)
|
rs1331064724
|
|
NM_000051.4(ATM):c.982A>C (p.Ser328Arg)
|
rs1555068433
|
|
NM_000051.4(ATM):c.982A>G (p.Ser328Gly)
|
rs1555068433
|
|
NM_000051.4(ATM):c.983G>A (p.Ser328Asn)
|
rs2135267189
|
|
NM_000051.4(ATM):c.984_986del (p.Ser328del)
|
rs876659593
|
|
NM_000051.4(ATM):c.985A>G (p.Arg329Gly)
|
rs1591510933
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
NM_000051.4(ATM):c.986G>C (p.Arg329Thr)
|
rs776938735
|
|
NM_000051.4(ATM):c.986G>T (p.Arg329Ile)
|
|
|
NM_000051.4(ATM):c.987A>G (p.Arg329=)
|
rs2079884541
|
|
NM_000051.4(ATM):c.988G>A (p.Gly330Arg)
|
rs2135267332
|
|
NM_000051.4(ATM):c.989G>A (p.Gly330Glu)
|
rs762179829
|
|
NM_000051.4(ATM):c.98T>C (p.Leu33Pro)
|
rs2078818941
|
|
NM_000051.4(ATM):c.990A>G (p.Gly330=)
|
rs1555068447
|
|
NM_000051.4(ATM):c.990A>T (p.Gly330=)
|
rs1555068447
|
|
NM_000051.4(ATM):c.991A>G (p.Lys331Glu)
|
rs1555068451
|
|
NM_000051.4(ATM):c.992A>G (p.Lys331Arg)
|
|
|
NM_000051.4(ATM):c.992A>T (p.Lys331Met)
|
rs2079885179
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
NM_000051.4(ATM):c.992dup (p.Tyr332fs)
|
|
|
NM_000051.4(ATM):c.993G>C (p.Lys331Asn)
|
|
|
NM_000051.4(ATM):c.993G>T (p.Lys331Asn)
|
rs786202048
|
|
NM_000051.4(ATM):c.994T>G (p.Tyr332Asp)
|
|
|
NM_000051.4(ATM):c.995A>C (p.Tyr332Ser)
|
|
|
NM_000051.4(ATM):c.995A>G (p.Tyr332Cys)
|
rs1060501664
|
|
NM_000051.4(ATM):c.995A>T (p.Tyr332Phe)
|
rs1060501664
|
|
NM_000051.4(ATM):c.99G>C (p.Leu33=)
|
|
|
NM_000051.4(ATM):c.9A>G (p.Leu3=)
|
rs1555053869
|
|
NM_000051.4:c.(2838_2839)_(5674_5675)del
|
|
|
NM_000051.4:c.7387_7388insAluYk11
|
|
|
NM_000051.4:c.919_920insAlu
|
|
|
Single allele
|
|
|
c.2249ins9
|
|
|
c.2639del200nt
|
|
|
c.3802delG
|
|
|
c.7271T>G
|
|
|
c.8313-2A>C
|
|
|