NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_000051.4(ATM):c.6095+15T>C
|
rs3212321
|
0.01395
|
NM_000051.4(ATM):c.6572+12G>T
|
rs3218677
|
0.01112
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_000051.4(ATM):c.7630-17T>C
|
rs116047570
|
0.00268
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly)
|
rs200441272
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)
|
rs369940136
|
0.00011
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
NM_000051.4(ATM):c.8154C>T (p.Gly2718=)
|
rs371021126
|
0.00011
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)
|
rs1232551114
|
0.00008
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)
|
rs730881382
|
0.00006
|
NM_000051.4(ATM):c.6486C>T (p.Ser2162=)
|
rs138166710
|
0.00006
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000051.4(ATM):c.7602C>T (p.Gly2534=)
|
rs562264493
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5868C>T (p.Leu1956=)
|
rs540054724
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
NM_000051.4(ATM):c.6333T>C (p.His2111=)
|
rs55756349
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.7779G>A (p.Gln2593=)
|
rs770321620
|
0.00004
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
NM_000051.4(ATM):c.7890A>G (p.Leu2630=)
|
rs756181210
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu)
|
rs778267979
|
0.00004
|
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser)
|
rs587781865
|
0.00003
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
0.00003
|
NM_000051.4(ATM):c.6199-3T>C
|
rs1318760213
|
0.00003
|
NM_000051.4(ATM):c.6219C>T (p.Leu2073=)
|
rs752478345
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000051.4(ATM):c.6526T>C (p.Leu2176=)
|
rs143715818
|
0.00003
|
NM_000051.4(ATM):c.6550A>G (p.Ser2184Gly)
|
rs764713766
|
0.00003
|
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)
|
rs779611511
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.6636C>T (p.Leu2212=)
|
rs876659563
|
0.00003
|
NM_000051.4(ATM):c.6678A>G (p.Leu2226=)
|
rs772173373
|
0.00003
|
NM_000051.4(ATM):c.6703A>G (p.Met2235Val)
|
rs768791795
|
0.00003
|
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu)
|
rs1252906835
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.7191A>G (p.Gln2397=)
|
rs768906734
|
0.00003
|
NM_000051.4(ATM):c.7213A>G (p.Met2405Val)
|
rs587781323
|
0.00003
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
NM_000051.4(ATM):c.7431A>T (p.Gly2477=)
|
rs1158876832
|
0.00003
|
NM_000051.4(ATM):c.7658C>A (p.Pro2553His)
|
rs864622368
|
0.00003
|
NM_000051.4(ATM):c.7989T>C (p.Val2663=)
|
rs774232968
|
0.00003
|
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)
|
rs34099398
|
0.00003
|
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)
|
rs778601472
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000051.4(ATM):c.8248T>C (p.Leu2750=)
|
rs876658559
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)
|
rs587782202
|
0.00003
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
NM_000051.4(ATM):c.8964C>T (p.Asp2988=)
|
rs969795398
|
0.00003
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
NM_000051.4(ATM):c.9050T>C (p.Leu3017Pro)
|
rs786204218
|
0.00003
|
NM_000051.4(ATM):c.6042G>A (p.Glu2014=)
|
rs138987778
|
0.00002
|
NM_000051.4(ATM):c.6153C>T (p.Leu2051=)
|
rs876658452
|
0.00002
|
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)
|
rs758038580
|
0.00002
|
NM_000051.4(ATM):c.6198+5A>G
|
rs771047560
|
0.00002
|
NM_000051.4(ATM):c.6219C>G (p.Leu2073=)
|
rs752478345
|
0.00002
|
NM_000051.4(ATM):c.6246A>G (p.Lys2082=)
|
rs745977589
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000051.4(ATM):c.6540A>G (p.Gly2180=)
|
rs767516615
|
0.00002
|
NM_000051.4(ATM):c.6774C>T (p.Leu2258=)
|
rs1057520450
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
NM_000051.4(ATM):c.6897C>T (p.Phe2299=)
|
rs777164914
|
0.00002
|
NM_000051.4(ATM):c.7038A>T (p.Ala2346=)
|
rs146167034
|
0.00002
|
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys)
|
rs863224462
|
0.00002
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=)
|
rs772228129
|
0.00002
|
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile)
|
rs786203764
|
0.00002
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys)
|
rs761790685
|
0.00002
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
NM_000051.4(ATM):c.7788+19C>T
|
rs201990371
|
0.00002
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
NM_000051.4(ATM):c.7929A>T (p.Lys2643Asn)
|
rs780247224
|
0.00002
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)
|
rs748016261
|
0.00002
|
NM_000051.4(ATM):c.8121C>T (p.Ser2707=)
|
rs770138283
|
0.00002
|
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
NM_000051.4(ATM):c.8164C>T (p.Leu2722=)
|
rs587782399
|
0.00002
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)
|
rs730881324
|
0.00002
|
NM_000051.4(ATM):c.8427A>G (p.Gln2809=)
|
rs538173062
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)
|
rs752652869
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.8797A>G (p.Lys2933Glu)
|
rs587779875
|
0.00002
|
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)
|
rs1485620194
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)
|
rs369870357
|
0.00002
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
NM_000051.4(ATM):c.5776A>G (p.Thr1926Ala)
|
rs781448339
|
0.00001
|
NM_000051.4(ATM):c.5786A>G (p.Asn1929Ser)
|
rs756661278
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser)
|
rs1286443989
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu)
|
rs779692309
|
0.00001
|
NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg)
|
rs746676271
|
0.00001
|
NM_000051.4(ATM):c.5835T>G (p.Ala1945=)
|
rs768106055
|
0.00001
|
NM_000051.4(ATM):c.5852A>C (p.His1951Pro)
|
rs1164569755
|
0.00001
|
NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn)
|
rs587782503
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.5886A>G (p.Ala1962=)
|
rs1057522876
|
0.00001
|
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)
|
rs1060501652
|
0.00001
|
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)
|
rs780867575
|
0.00001
|
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp)
|
rs945198632
|
0.00001
|
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg)
|
rs786203765
|
0.00001
|
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg)
|
rs543980602
|
0.00001
|
NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys)
|
rs770722380
|
0.00001
|
NM_000051.4(ATM):c.5964C>T (p.Ser1988=)
|
rs774260725
|
0.00001
|
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)
|
rs786203404
|
0.00001
|
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val)
|
rs1188125296
|
0.00001
|
NM_000051.4(ATM):c.5994A>T (p.Gly1998=)
|
rs56046250
|
0.00001
|
NM_000051.4(ATM):c.6015C>T (p.Leu2005=)
|
rs1397821498
|
0.00001
|
NM_000051.4(ATM):c.6020A>C (p.Glu2007Ala)
|
rs762001297
|
0.00001
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=)
|
rs777534711
|
0.00001
|
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr)
|
rs876660062
|
0.00001
|
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser)
|
rs35991214
|
0.00001
|
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu)
|
rs1486220915
|
0.00001
|
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile)
|
rs369349023
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6095+5A>G
|
rs757328753
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
NM_000051.4(ATM):c.6097C>T (p.Leu2033=)
|
rs769813736
|
0.00001
|
NM_000051.4(ATM):c.6103A>G (p.Thr2035Ala)
|
rs876659555
|
0.00001
|
NM_000051.4(ATM):c.6105A>G (p.Thr2035=)
|
rs1555113708
|
0.00001
|
NM_000051.4(ATM):c.6121A>G (p.Met2041Val)
|
rs759753186
|
0.00001
|
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr)
|
rs1000032847
|
0.00001
|
NM_000051.4(ATM):c.6127G>A (p.Gly2043Ser)
|
rs767939328
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6192C>A (p.Ile2064=)
|
rs876659831
|
0.00001
|
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala)
|
rs1183544857
|
0.00001
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro)
|
rs587779854
|
0.00001
|
NM_000051.4(ATM):c.6244A>G (p.Lys2082Glu)
|
rs1239942908
|
0.00001
|
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)
|
rs1060501586
|
0.00001
|
NM_000051.4(ATM):c.6250T>C (p.Leu2084=)
|
rs772608345
|
0.00001
|
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu)
|
rs376898203
|
0.00001
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
NM_000051.4(ATM):c.6296A>G (p.His2099Arg)
|
rs587782802
|
0.00001
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala)
|
rs1555114835
|
0.00001
|
NM_000051.4(ATM):c.6342C>T (p.Ser2114=)
|
rs754020535
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6348-3C>T
|
rs946541820
|
0.00001
|
NM_000051.4(ATM):c.6348-5C>A
|
rs1388651064
|
0.00001
|
NM_000051.4(ATM):c.6365C>G (p.Thr2122Ser)
|
rs1555116369
|
0.00001
|
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly)
|
rs876659773
|
0.00001
|
NM_000051.4(ATM):c.6373C>T (p.His2125Tyr)
|
rs1201879809
|
0.00001
|
NM_000051.4(ATM):c.6394C>T (p.Leu2132=)
|
rs551408889
|
0.00001
|
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu)
|
rs780299607
|
0.00001
|
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly)
|
rs752069869
|
0.00001
|
NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys)
|
rs1297621371
|
0.00001
|
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu)
|
rs587780635
|
0.00001
|
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=)
|
rs1057519167
|
0.00001
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
NM_000051.4(ATM):c.6456A>G (p.Val2152=)
|
rs876660014
|
0.00001
|
NM_000051.4(ATM):c.6482G>A (p.Arg2161His)
|
rs756626462
|
0.00001
|
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)
|
rs768155385
|
0.00001
|
NM_000051.4(ATM):c.6504G>A (p.Ser2168=)
|
rs786203522
|
0.00001
|
NM_000051.4(ATM):c.6505C>G (p.Leu2169Val)
|
rs1064794157
|
0.00001
|
NM_000051.4(ATM):c.6507C>G (p.Leu2169=)
|
rs863224295
|
0.00001
|
NM_000051.4(ATM):c.6516A>G (p.Thr2172=)
|
rs576254168
|
0.00001
|
NM_000051.4(ATM):c.6517C>T (p.Leu2173Phe)
|
rs1565511354
|
0.00001
|
NM_000051.4(ATM):c.6522C>T (p.Ser2174=)
|
rs772850740
|
0.00001
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr)
|
rs374551964
|
0.00001
|
NM_000051.4(ATM):c.6558G>A (p.Gly2186=)
|
rs1555117263
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6629A>C (p.Gln2210Pro)
|
rs1252127806
|
0.00001
|
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
NM_000051.4(ATM):c.6630G>A (p.Gln2210=)
|
rs777515589
|
0.00001
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
0.00001
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
NM_000051.4(ATM):c.6670A>G (p.Met2224Val)
|
rs545873723
|
0.00001
|
NM_000051.4(ATM):c.6671T>C (p.Met2224Thr)
|
rs730881313
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000051.4(ATM):c.6687C>A (p.Val2229=)
|
rs1442555144
|
0.00001
|
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)
|
rs760602228
|
0.00001
|
NM_000051.4(ATM):c.6701T>A (p.Leu2234Gln)
|
rs1158183992
|
0.00001
|
NM_000051.4(ATM):c.6710A>C (p.Lys2237Thr)
|
rs35118109
|
0.00001
|
NM_000051.4(ATM):c.6724T>C (p.Ser2242Pro)
|
rs1309164461
|
0.00001
|
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)
|
rs587781521
|
0.00001
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
NM_000051.4(ATM):c.6756C>T (p.Thr2252=)
|
rs1008212556
|
0.00001
|
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)
|
rs1060501602
|
0.00001
|
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)
|
rs1365474284
|
0.00001
|
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro)
|
rs587781674
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.6831A>C (p.Gln2277His)
|
rs1339794219
|
0.00001
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
NM_000051.4(ATM):c.6839del (p.Gln2280fs)
|
rs1407907917
|
0.00001
|
NM_000051.4(ATM):c.6846T>C (p.Asn2282=)
|
rs541718119
|
0.00001
|
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu)
|
rs876660730
|
0.00001
|
NM_000051.4(ATM):c.6868G>A (p.Glu2290Lys)
|
rs1479339581
|
0.00001
|
NM_000051.4(ATM):c.6892G>A (p.Val2298Ile)
|
rs1204077610
|
0.00001
|
NM_000051.4(ATM):c.6905A>G (p.Lys2302Arg)
|
rs1297586575
|
0.00001
|
NM_000051.4(ATM):c.6924C>A (p.Ala2308=)
|
rs759878732
|
0.00001
|
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)
|
rs763839047
|
0.00001
|
NM_000051.4(ATM):c.6927G>T (p.Leu2309=)
|
rs876660429
|
0.00001
|
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)
|
rs1381019767
|
0.00001
|
NM_000051.4(ATM):c.6942A>C (p.Gln2314His)
|
rs764859160
|
0.00001
|
NM_000051.4(ATM):c.6944T>C (p.Met2315Thr)
|
rs1555120006
|
0.00001
|
NM_000051.4(ATM):c.6950A>C (p.Lys2317Thr)
|
rs750285816
|
0.00001
|
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu)
|
rs1449259481
|
0.00001
|
NM_000051.4(ATM):c.6966C>T (p.Ser2322=)
|
rs864622593
|
0.00001
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
NM_000051.4(ATM):c.6975+5G>T
|
rs575354684
|
0.00001
|
NM_000051.4(ATM):c.6975+5del
|
rs1442949382
|
0.00001
|
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile)
|
rs761587154
|
0.00001
|
NM_000051.4(ATM):c.6982C>T (p.Pro2328Ser)
|
rs769606850
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
NM_000051.4(ATM):c.7017G>A (p.Arg2339=)
|
rs1591142466
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.7046G>A (p.Cys2349Tyr)
|
rs1223489931
|
0.00001
|
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met)
|
rs757293178
|
0.00001
|
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp)
|
rs767494363
|
0.00001
|
NM_000051.4(ATM):c.7110T>C (p.Asn2370=)
|
rs752476328
|
0.00001
|
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)
|
rs3218675
|
0.00001
|
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp)
|
rs376159946
|
0.00001
|
NM_000051.4(ATM):c.7131T>C (p.Asp2377=)
|
rs373309822
|
0.00001
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)
|
rs876659392
|
0.00001
|
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)
|
rs786203697
|
0.00001
|
NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu)
|
rs747372355
|
0.00001
|
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile)
|
rs567457294
|
0.00001
|
NM_000051.4(ATM):c.7209C>T (p.Asn2403=)
|
rs373662499
|
0.00001
|
NM_000051.4(ATM):c.7214T>C (p.Met2405Thr)
|
rs745440761
|
0.00001
|
NM_000051.4(ATM):c.7221A>G (p.Ser2407=)
|
rs786201881
|
0.00001
|
NM_000051.4(ATM):c.7228T>C (p.Phe2410Leu)
|
rs193302874
|
0.00001
|
NM_000051.4(ATM):c.7264G>A (p.Glu2422Lys)
|
rs1163371592
|
0.00001
|
NM_000051.4(ATM):c.7266G>A (p.Glu2422=)
|
rs876659834
|
0.00001
|
NM_000051.4(ATM):c.7289A>G (p.His2430Arg)
|
rs786202856
|
0.00001
|
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu)
|
rs864622563
|
0.00001
|
NM_000051.4(ATM):c.7302A>T (p.Thr2434=)
|
rs752125292
|
0.00001
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
NM_000051.4(ATM):c.7314A>C (p.Thr2438=)
|
rs199909913
|
0.00001
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
NM_000051.4(ATM):c.7317A>G (p.Val2439=)
|
rs878853542
|
0.00001
|
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn)
|
rs751537332
|
0.00001
|
NM_000051.4(ATM):c.7322T>C (p.Val2441Ala)
|
rs765548443
|
0.00001
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
NM_000051.4(ATM):c.7336G>A (p.Glu2446Lys)
|
rs730881318
|
0.00001
|
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val)
|
rs587779863
|
0.00001
|
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys)
|
rs755418571
|
0.00001
|
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)
|
rs786201541
|
0.00001
|
NM_000051.4(ATM):c.7363C>T (p.Leu2455=)
|
rs147665149
|
0.00001
|
NM_000051.4(ATM):c.7371G>A (p.Glu2457=)
|
rs1454725863
|
0.00001
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)
|
rs1429991894
|
0.00001
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
0.00001
|
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile)
|
rs769722643
|
0.00001
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7466C>T (p.Ser2489Phe)
|
rs759728261
|
0.00001
|
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe)
|
rs1449747119
|
0.00001
|
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala)
|
rs754245181
|
0.00001
|
NM_000051.4(ATM):c.7496A>G (p.Glu2499Gly)
|
rs1224705805
|
0.00001
|
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala)
|
rs779810877
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile)
|
rs1266101531
|
0.00001
|
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)
|
rs754395517
|
0.00001
|
NM_000051.4(ATM):c.7525A>G (p.Met2509Val)
|
rs979101125
|
0.00001
|
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe)
|
rs146069748
|
0.00001
|
NM_000051.4(ATM):c.7535C>T (p.Pro2512Leu)
|
rs1237858258
|
0.00001
|
NM_000051.4(ATM):c.7539A>G (p.Thr2513=)
|
rs752294923
|
0.00001
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000051.4(ATM):c.7545A>G (p.Lys2515=)
|
rs1467809725
|
0.00001
|
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys)
|
rs774312539
|
0.00001
|
NM_000051.4(ATM):c.7553C>T (p.Pro2518Leu)
|
rs879254136
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp)
|
rs747145967
|
0.00001
|
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)
|
rs769142993
|
0.00001
|
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu)
|
rs864622688
|
0.00001
|
NM_000051.4(ATM):c.7620C>A (p.Val2540=)
|
rs863224298
|
0.00001
|
NM_000051.4(ATM):c.7620C>T (p.Val2540=)
|
rs863224298
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.7629T>C (p.Asn2543=)
|
rs767123895
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7648A>G (p.Met2550Val)
|
rs878853545
|
0.00001
|
NM_000051.4(ATM):c.7656C>A (p.His2552Gln)
|
rs1555124473
|
0.00001
|
NM_000051.4(ATM):c.7664A>G (p.His2555Arg)
|
rs876658925
|
0.00001
|
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val)
|
rs1208002418
|
0.00001
|
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr)
|
rs940285361
|
0.00001
|
NM_000051.4(ATM):c.7716G>C (p.Leu2572=)
|
rs763730344
|
0.00001
|
NM_000051.4(ATM):c.7720A>C (p.Lys2574Gln)
|
rs1357229307
|
0.00001
|
NM_000051.4(ATM):c.7727A>G (p.Glu2576Gly)
|
rs1202657573
|
0.00001
|
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)
|
rs750224234
|
0.00001
|
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln)
|
rs140263969
|
0.00001
|
NM_000051.4(ATM):c.7821T>C (p.Cys2607=)
|
rs771607956
|
0.00001
|
NM_000051.4(ATM):c.7847T>C (p.Met2616Thr)
|
rs762765902
|
0.00001
|
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly)
|
rs766351395
|
0.00001
|
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser)
|
rs759392666
|
0.00001
|
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)
|
rs767670019
|
0.00001
|
NM_000051.4(ATM):c.7897T>G (p.Leu2633Val)
|
rs587779868
|
0.00001
|
NM_000051.4(ATM):c.7902T>G (p.Asp2634Glu)
|
rs373147078
|
0.00001
|
NM_000051.4(ATM):c.7905C>T (p.Ala2635=)
|
rs757829783
|
0.00001
|
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly)
|
rs563137460
|
0.00001
|
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys)
|
rs758843096
|
0.00001
|
NM_000051.4(ATM):c.7927+4T>C
|
rs1335862267
|
0.00001
|
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val)
|
rs876660877
|
0.00001
|
NM_000051.4(ATM):c.7957A>G (p.Ile2653Val)
|
rs747448699
|
0.00001
|
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe)
|
rs747448699
|
0.00001
|
NM_000051.4(ATM):c.7974T>C (p.Asn2658=)
|
rs777548685
|
0.00001
|
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)
|
rs1315805984
|
0.00001
|
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala)
|
rs1555126304
|
0.00001
|
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)
|
rs745775382
|
0.00001
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
NM_000051.4(ATM):c.8010+5T>A
|
rs56256497
|
0.00001
|
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
NM_000051.4(ATM):c.8019C>T (p.His2673=)
|
rs1181283176
|
0.00001
|
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys)
|
rs786202859
|
0.00001
|
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)
|
rs766730487
|
0.00001
|
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser)
|
rs1175177178
|
0.00001
|
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val)
|
rs587781344
|
0.00001
|
NM_000051.4(ATM):c.8072G>A (p.Arg2691His)
|
rs876658385
|
0.00001
|
NM_000051.4(ATM):c.8098A>G (p.Lys2700Glu)
|
rs758588019
|
0.00001
|
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)
|
rs876659735
|
0.00001
|
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)
|
rs201689025
|
0.00001
|
NM_000051.4(ATM):c.8112T>C (p.Cys2704=)
|
rs786201543
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8173G>C (p.Asp2725His)
|
rs587782049
|
0.00001
|
NM_000051.4(ATM):c.8175T>A (p.Asp2725Glu)
|
rs1431188311
|
0.00001
|
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)
|
rs367575159
|
0.00001
|
NM_000051.4(ATM):c.8193C>T (p.Val2731=)
|
rs1060504307
|
0.00001
|
NM_000051.4(ATM):c.8196C>G (p.Phe2732Leu)
|
rs1183442138
|
0.00001
|
NM_000051.4(ATM):c.8199G>A (p.Gln2733=)
|
rs770552705
|
0.00001
|
NM_000051.4(ATM):c.8207A>G (p.Asn2736Ser)
|
rs1190456608
|
0.00001
|
NM_000051.4(ATM):c.8217G>A (p.Leu2739=)
|
rs759069006
|
0.00001
|
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)
|
rs730881321
|
0.00001
|
NM_000051.4(ATM):c.8229G>A (p.Thr2743=)
|
rs150603052
|
0.00001
|
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala)
|
rs764003317
|
0.00001
|
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg)
|
rs779145081
|
0.00001
|
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)
|
rs587779871
|
0.00001
|
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=)
|
rs758654836
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8269G>A (p.Val2757Met)
|
rs761625350
|
0.00001
|
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser)
|
rs764906663
|
0.00001
|
NM_000051.4(ATM):c.8278C>G (p.Leu2760Val)
|
rs758609900
|
0.00001
|
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln)
|
rs551411717
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
NM_000051.4(ATM):c.8317A>G (p.Thr2773Ala)
|
rs2087819658
|
0.00001
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8355T>C (p.Asp2785=)
|
rs372834825
|
0.00001
|
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser)
|
rs1010206130
|
0.00001
|
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His)
|
rs1020805015
|
0.00001
|
NM_000051.4(ATM):c.8385T>C (p.Asp2795=)
|
rs1251164631
|
0.00001
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
NM_000051.4(ATM):c.8395T>G (p.Phe2799Val)
|
rs730881323
|
0.00001
|
NM_000051.4(ATM):c.8400G>C (p.Gln2800His)
|
rs879253901
|
0.00001
|
NM_000051.4(ATM):c.8437T>C (p.Phe2813Leu)
|
rs1280239284
|
0.00001
|
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser)
|
rs1555138027
|
0.00001
|
NM_000051.4(ATM):c.8461A>G (p.Met2821Val)
|
rs876660081
|
0.00001
|
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile)
|
rs370152402
|
0.00001
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His)
|
rs774171813
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)
|
rs756230327
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8561G>T (p.Arg2854Leu)
|
rs1060501605
|
0.00001
|
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile)
|
rs777648248
|
0.00001
|
NM_000051.4(ATM):c.8572A>G (p.Thr2858Ala)
|
rs749193688
|
0.00001
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
0.00001
|
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe)
|
rs786203542
|
0.00001
|
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val)
|
rs1555138472
|
0.00001
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
NM_000051.4(ATM):c.8595A>T (p.Ile2865=)
|
rs777245630
|
0.00001
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile)
|
rs730881327
|
0.00001
|
NM_000051.4(ATM):c.8624A>C (p.Asn2875Thr)
|
rs587782451
|
0.00001
|
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile)
|
rs1064795066
|
0.00001
|
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly)
|
rs876658236
|
0.00001
|
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)
|
rs748192003
|
0.00001
|
NM_000051.4(ATM):c.8676T>A (p.Val2892=)
|
rs1401097446
|
0.00001
|
NM_000051.4(ATM):c.8709T>C (p.Pro2903=)
|
rs773208089
|
0.00001
|
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)
|
rs587780643
|
0.00001
|
NM_000051.4(ATM):c.8717T>C (p.Val2906Ala)
|
rs730881328
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)
|
rs780303327
|
0.00001
|
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met)
|
rs587782264
|
0.00001
|
NM_000051.4(ATM):c.8751C>T (p.Gly2917=)
|
rs779858366
|
0.00001
|
NM_000051.4(ATM):c.8752A>T (p.Met2918Leu)
|
rs1555142873
|
0.00001
|
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)
|
rs730881329
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
NM_000051.4(ATM):c.8787-4C>G
|
rs944858078
|
0.00001
|
NM_000051.4(ATM):c.8800A>G (p.Thr2934Ala)
|
rs746351323
|
0.00001
|
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile)
|
rs772621438
|
0.00001
|
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln)
|
rs1060501537
|
0.00001
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.8820C>T (p.Asn2940=)
|
rs775823407
|
0.00001
|
NM_000051.4(ATM):c.8844T>C (p.Ile2948=)
|
rs878853551
|
0.00001
|
NM_000051.4(ATM):c.8847A>G (p.Val2949=)
|
rs876658820
|
0.00001
|
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys)
|
rs898091069
|
0.00001
|
NM_000051.4(ATM):c.8850+3A>G
|
rs769427492
|
0.00001
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
NM_000051.4(ATM):c.8859A>G (p.Leu2953=)
|
rs773994431
|
0.00001
|
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys)
|
rs767507047
|
0.00001
|
NM_000051.4(ATM):c.8871C>G (p.Leu2957=)
|
rs1555151266
|
0.00001
|
NM_000051.4(ATM):c.8875G>T (p.Asp2959Tyr)
|
rs1400589510
|
0.00001
|
NM_000051.4(ATM):c.8889T>A (p.Asn2963Lys)
|
rs1476881353
|
0.00001
|
NM_000051.4(ATM):c.8902T>C (p.Leu2968=)
|
rs775313366
|
0.00001
|
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg)
|
rs763773991
|
0.00001
|
NM_000051.4(ATM):c.8922G>A (p.Pro2974=)
|
rs527248759
|
0.00001
|
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)
|
rs786203721
|
0.00001
|
NM_000051.4(ATM):c.8940T>G (p.Leu2980=)
|
rs576335919
|
0.00001
|
NM_000051.4(ATM):c.8950C>A (p.Leu2984Met)
|
rs747445236
|
0.00001
|
NM_000051.4(ATM):c.8955T>C (p.Asn2985=)
|
rs755561691
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln)
|
rs587778081
|
0.00001
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val)
|
rs1319582645
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg)
|
rs1064793579
|
0.00001
|
NM_000051.4(ATM):c.9043G>C (p.Glu3015Gln)
|
rs1591387120
|
0.00001
|
NM_000051.4(ATM):c.9049C>T (p.Leu3017=)
|
rs876658991
|
0.00001
|
NM_000051.4(ATM):c.9058G>T (p.Val3020Leu)
|
rs1386313592
|
0.00001
|
NM_000051.4(ATM):c.9060G>T (p.Val3020=)
|
rs864622625
|
0.00001
|
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile)
|
rs786203183
|
0.00001
|
NM_000051.4(ATM):c.9072T>G (p.Thr3024=)
|
rs1308894113
|
0.00001
|
NM_000051.4(ATM):c.9087T>G (p.Gly3029=)
|
rs759675675
|
0.00001
|
NM_000051.4(ATM):c.9088G>A (p.Gly3030Arg)
|
rs879254215
|
0.00001
|
NM_000051.4(ATM):c.9094G>C (p.Val3032Leu)
|
rs587779877
|
0.00001
|
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg)
|
rs867893961
|
0.00001
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val)
|
rs876660534
|
0.00001
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000051.4(ATM):c.*5C>A
|
|
|
NM_000051.4(ATM):c.5763-18_5772del
|
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
NM_000051.4(ATM):c.5763-2A>G
|
rs876659489
|
|
NM_000051.4(ATM):c.5763-3T>C
|
|
|
NM_000051.4(ATM):c.5763-5T>C
|
rs1555110219
|
|
NM_000051.4(ATM):c.5763A>G (p.Arg1921=)
|
rs1057523784
|
|
NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr)
|
rs587781865
|
|
NM_000051.4(ATM):c.5765C>A (p.Pro1922His)
|
rs751792004
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
NM_000051.4(ATM):c.5766T>G (p.Pro1922=)
|
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
NM_000051.4(ATM):c.5769T>C (p.Ser1923=)
|
rs1060504280
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu)
|
rs876658831
|
|
NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg)
|
rs1591745423
|
|
NM_000051.4(ATM):c.5773G>T (p.Gly1925Ter)
|
|
|
NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu)
|
rs755055090
|
|
NM_000051.4(ATM):c.5774G>C (p.Gly1925Ala)
|
rs755055090
|
|
NM_000051.4(ATM):c.5774G>T (p.Gly1925Val)
|
rs755055090
|
|
NM_000051.4(ATM):c.5775A>G (p.Gly1925=)
|
|
|
NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del)
|
rs786203678
|
|
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile)
|
rs876660944
|
|
NM_000051.4(ATM):c.5779A>G (p.Ile1927Val)
|
rs753218533
|
|
NM_000051.4(ATM):c.5784T>A (p.Phe1928Leu)
|
rs1290871799
|
|
NM_000051.4(ATM):c.5784T>C (p.Phe1928=)
|
rs1290871799
|
|
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)
|
rs1131691254
|
|
NM_000051.4(ATM):c.5786A>T (p.Asn1929Ile)
|
rs756661278
|
|
NM_000051.4(ATM):c.5790T>C (p.Asp1930=)
|
rs1555110279
|
|
NM_000051.4(ATM):c.5790T>G (p.Asp1930Glu)
|
|
|
NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)
|
rs1555110295
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val)
|
rs1243690083
|
|
NM_000051.4(ATM):c.5795T>G (p.Phe1932Cys)
|
rs1591745679
|
|
NM_000051.4(ATM):c.5801T>A (p.Leu1934Gln)
|
rs1591745717
|
|
NM_000051.4(ATM):c.5802G>C (p.Leu1934=)
|
|
|
NM_000051.4(ATM):c.5802G>T (p.Leu1934=)
|
|
|
NM_000051.4(ATM):c.5803G>T (p.Asp1935Tyr)
|
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5809A>T (p.Asn1937Tyr)
|
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn)
|
rs786203668
|
|
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp)
|
rs2084028240
|
|
NM_000051.4(ATM):c.5822T>C (p.Val1941Ala)
|
|
|
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly)
|
rs876660334
|
|
NM_000051.4(ATM):c.5823T>C (p.Val1941=)
|
rs1555110364
|
|
NM_000051.4(ATM):c.5824G>A (p.Ala1942Thr)
|
rs1286443989
|
|
NM_000051.4(ATM):c.5826C>A (p.Ala1942=)
|
|
|
NM_000051.4(ATM):c.5826C>T (p.Ala1942=)
|
|
|
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu)
|
rs1555110379
|
|
NM_000051.4(ATM):c.5832A>G (p.Val1944=)
|
|
|
NM_000051.4(ATM):c.5834C>T (p.Ala1945Val)
|
rs1356309376
|
|
NM_000051.4(ATM):c.5839T>A (p.Ser1947Thr)
|
rs1591746011
|
|
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr)
|
rs1555110399
|
|
NM_000051.4(ATM):c.5840C>T (p.Ser1947Phe)
|
|
|
NM_000051.4(ATM):c.5841T>C (p.Ser1947=)
|
rs2084031312
|
|
NM_000051.4(ATM):c.5842dup (p.Cys1948fs)
|
|
|
NM_000051.4(ATM):c.5844T>C (p.Cys1948=)
|
rs776150043
|
|
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr)
|
rs1591746066
|
|
NM_000051.4(ATM):c.5849C>T (p.Ala1950Val)
|
rs1591746083
|
|
NM_000051.4(ATM):c.5853C>T (p.His1951=)
|
rs376169886
|
|
NM_000051.4(ATM):c.5854T>A (p.Phe1952Ile)
|
rs1555110421
|
|
NM_000051.4(ATM):c.5856T>C (p.Phe1952=)
|
rs864622297
|
|
NM_000051.4(ATM):c.5857A>G (p.Thr1953Ala)
|
rs2084033441
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5859A>T (p.Thr1953=)
|
|
|
NM_000051.4(ATM):c.5860G>C (p.Ala1954Pro)
|
rs1591746248
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
NM_000051.4(ATM):c.5866_5867insACTATGCAGAAA (p.Leu1956delinsHisTyrAlaGluIle)
|
rs1591746305
|
|
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
|
|
|
NM_000051.4(ATM):c.5867T>A (p.Leu1956His)
|
rs876658989
|
|
NM_000051.4(ATM):c.5868C>G (p.Leu1956=)
|
rs540054724
|
|
NM_000051.4(ATM):c.5870A>C (p.Tyr1957Ser)
|
rs1591746364
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=)
|
rs2136017191
|
|
NM_000051.4(ATM):c.5871T>G (p.Tyr1957Ter)
|
|
|
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val)
|
rs2136017305
|
|
NM_000051.4(ATM):c.5874A>G (p.Ala1958=)
|
rs1591746375
|
|
NM_000051.4(ATM):c.5875G>A (p.Glu1959Lys)
|
|
|
NM_000051.4(ATM):c.5875G>C (p.Glu1959Gln)
|
|
|
NM_000051.4(ATM):c.5875G>T (p.Glu1959Ter)
|
|
|
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)
|
rs876660515
|
|
NM_000051.4(ATM):c.5878A>T (p.Ile1960Phe)
|
|
|
NM_000051.4(ATM):c.5880C>A (p.Ile1960=)
|
|
|
NM_000051.4(ATM):c.5880C>G (p.Ile1960Met)
|
rs1555110464
|
|
NM_000051.4(ATM):c.5880C>T (p.Ile1960=)
|
|
|
NM_000051.4(ATM):c.5886A>C (p.Ala1962=)
|
|
|
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn)
|
rs864622148
|
|
NM_000051.4(ATM):c.5887G>C (p.Asp1963His)
|
rs864622148
|
|
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly)
|
rs1555110484
|
|
NM_000051.4(ATM):c.5889T>C (p.Asp1963=)
|
rs1555110490
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5891A>G (p.Lys1964Arg)
|
rs1555110503
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
NM_000051.4(ATM):c.5895A>G (p.Lys1965=)
|
rs1565490147
|
|
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)
|
rs1555110520
|
|
NM_000051.4(ATM):c.5898T>C (p.Ser1966=)
|
|
|
NM_000051.4(ATM):c.5899A>G (p.Met1967Val)
|
rs1060501541
|
|
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)
|
rs1555110568
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr)
|
rs730881377
|
|
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)
|
rs2084040947
|
|
NM_000051.4(ATM):c.5917A>C (p.Arg1973=)
|
rs786202089
|
|
NM_000051.4(ATM):c.5918+1G>A
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+1G>T
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+5T>G
|
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.5925T>G (p.Leu1975=)
|
rs2084241491
|
|
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)
|
rs2084241683
|
|
NM_000051.4(ATM):c.5928A>T (p.Ala1976=)
|
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
|
|
|
NM_000051.4(ATM):c.5940A>C (p.Gly1980=)
|
|
|
NM_000051.4(ATM):c.5940A>G (p.Gly1980=)
|
|
|
NM_000051.4(ATM):c.5943C>T (p.Ser1981=)
|
rs769252226
|
|
NM_000051.4(ATM):c.5946G>A (p.Gln1982=)
|
rs1591758349
|
|
NM_000051.4(ATM):c.5946G>C (p.Gln1982His)
|
|
|
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn)
|
rs659243
|
|
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)
|
rs1060501603
|
|
NM_000051.4(ATM):c.5951C>G (p.Thr1984Arg)
|
rs770722380
|
|
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala)
|
rs879254252
|
|
NM_000051.4(ATM):c.5954C>G (p.Thr1985Ser)
|
|
|
NM_000051.4(ATM):c.5956A>C (p.Ile1986Leu)
|
|
|
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)
|
rs876660935
|
|
NM_000051.4(ATM):c.5959T>C (p.Ser1987Pro)
|
|
|
NM_000051.4(ATM):c.5959dup (p.Ser1987fs)
|
rs1555111808
|
|
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.5965T>C (p.Leu1989=)
|
|
|
NM_000051.4(ATM):c.5966T>C (p.Leu1989Ser)
|
|
|
NM_000051.4(ATM):c.5966_5979delinsCGAGTA (p.Leu1989fs)
|
|
|
NM_000051.4(ATM):c.5967G>A (p.Leu1989=)
|
rs1555111833
|
|
NM_000051.4(ATM):c.5968A>C (p.Ser1990Arg)
|
rs1275100503
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
|
|
|
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)
|
rs587782274
|
|
NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg)
|
rs150757822
|
|
NM_000051.4(ATM):c.5978G>T (p.Ser1993Ile)
|
rs1406659883
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.5980A>G (p.Lys1994Glu)
|
|
|
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter)
|
rs1565493693
|
|
NM_000051.4(ATM):c.5981A>G (p.Lys1994Arg)
|
rs1591758782
|
|
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
|
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys)
|
rs1555111886
|
|
NM_000051.4(ATM):c.5985A>G (p.Glu1995=)
|
rs2084252730
|
|
NM_000051.4(ATM):c.5986G>A (p.Glu1996Lys)
|
|
|
NM_000051.4(ATM):c.5987A>G (p.Glu1996Gly)
|
rs1264932751
|
|
NM_000051.4(ATM):c.5988A>C (p.Glu1996Asp)
|
rs1591758852
|
|
NM_000051.4(ATM):c.5988A>T (p.Glu1996Asp)
|
rs1591758852
|
|
NM_000051.4(ATM):c.5989A>C (p.Thr1997Pro)
|
rs1591758871
|
|
NM_000051.4(ATM):c.5991T>A (p.Thr1997=)
|
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter)
|
rs1591758899
|
|
NM_000051.4(ATM):c.5994A>G (p.Gly1998=)
|
|
|
NM_000051.4(ATM):c.5995A>G (p.Ile1999Val)
|
rs1201228506
|
|
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys)
|
rs2136063107
|
|
NM_000051.4(ATM):c.5999G>T (p.Ser2000Ile)
|
rs775921052
|
|
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6003A>G (p.Leu2001=)
|
rs1057523413
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
NM_000051.4(ATM):c.6005A>G (p.Gln2002Arg)
|
rs1591759049
|
|
NM_000051.4(ATM):c.6006+1G>A
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
NM_000051.4(ATM):c.6006G>A (p.Gln2002=)
|
rs1591759073
|
|
NM_000051.4(ATM):c.6007-5T>C
|
rs863224294
|
|
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn)
|
rs730881378
|
|
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg)
|
rs1064795932
|
|
NM_000051.4(ATM):c.6012T>G (p.Leu2004=)
|
rs1324998068
|
|
NM_000051.4(ATM):c.6013C>A (p.Leu2005Ile)
|
|
|
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.6016T>G (p.Leu2006Val)
|
rs1555113531
|
|
NM_000051.4(ATM):c.6018A>G (p.Leu2006=)
|
rs876659301
|
|
NM_000051.4(ATM):c.6021A>T (p.Glu2007Asp)
|
rs1555113549
|
|
NM_000051.4(ATM):c.6023T>C (p.Ile2008Thr)
|
rs876660227
|
|
NM_000051.4(ATM):c.6026A>G (p.Tyr2009Cys)
|
rs2136118434
|
|
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)
|
rs1555113567
|
|
NM_000051.4(ATM):c.6027C>T (p.Tyr2009=)
|
|
|
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met)
|
rs1591776713
|
|
NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg)
|
rs2084587881
|
|
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys)
|
rs375783941
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6047A>T (p.Asp2016Val)
|
rs587781302
|
|
NM_000051.4(ATM):c.6048T>C (p.Asp2016=)
|
rs2136119590
|
|
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6051T>A (p.Ser2017Arg)
|
|
|
NM_000051.4(ATM):c.6053T>C (p.Leu2018Ser)
|
rs755694394
|
|
NM_000051.4(ATM):c.6054G>T (p.Leu2018Phe)
|
|
|
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His)
|
rs1591776885
|
|
NM_000051.4(ATM):c.6056A>T (p.Tyr2019Phe)
|
|
|
NM_000051.4(ATM):c.6059G>A (p.Gly2020Asp)
|
rs1591776938
|
|
NM_000051.4(ATM):c.6061T>C (p.Cys2021Arg)
|
rs1591776961
|
|
NM_000051.4(ATM):c.6065G>A (p.Gly2022Asp)
|
rs1591777028
|
|
NM_000051.4(ATM):c.6066T>G (p.Gly2022=)
|
|
|
NM_000051.4(ATM):c.6069A>G (p.Gly2023=)
|
|
|
NM_000051.4(ATM):c.6070G>A (p.Gly2024Arg)
|
rs1565499041
|
|
NM_000051.4(ATM):c.6072G>A (p.Gly2024=)
|
rs1591777129
|
|
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
|
|
|
NM_000051.4(ATM):c.6075G>T (p.Lys2025Asn)
|
rs1591777158
|
|
NM_000051.4(ATM):c.6076A>G (p.Met2026Val)
|
|
|
NM_000051.4(ATM):c.6082C>A (p.Gln2028Lys)
|
rs876659454
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
NM_000051.4(ATM):c.6086C>T (p.Pro2029Leu)
|
rs863224575
|
|
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)
|
rs1060504316
|
|
NM_000051.4(ATM):c.6091A>C (p.Thr2031Pro)
|
rs1591777327
|
|
NM_000051.4(ATM):c.6091A>T (p.Thr2031Ser)
|
|
|
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile)
|
rs1555113613
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
NM_000051.4(ATM):c.6095+5del
|
rs1555113628
|
|
NM_000051.4(ATM):c.6096-1G>C
|
rs1591778339
|
|
NM_000051.4(ATM):c.6096-2A>G
|
rs1057520704
|
|
NM_000051.4(ATM):c.6096-3T>A
|
rs748380897
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6096A>G (p.Arg2032=)
|
rs1591778359
|
|
NM_000051.4(ATM):c.6096A>T (p.Arg2032Ser)
|
rs1591778359
|
|
NM_000051.4(ATM):c.6097C>G (p.Leu2033Val)
|
rs769813736
|
|
NM_000051.4(ATM):c.6098T>C (p.Leu2033Pro)
|
rs876660681
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6104C>T (p.Thr2035Ile)
|
rs2136127153
|
|
NM_000051.4(ATM):c.6105_6114del (p.Tyr2036fs)
|
|
|
NM_000051.4(ATM):c.6110A>G (p.Glu2037Gly)
|
rs2084612043
|
|
NM_000051.4(ATM):c.6112C>A (p.His2038Asn)
|
rs1060501643
|
|
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr)
|
rs1060501643
|
|
NM_000051.4(ATM):c.6114C>A (p.His2038Gln)
|
rs774993357
|
|
NM_000051.4(ATM):c.6114C>G (p.His2038Gln)
|
rs774993357
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6116A>G (p.Glu2039Gly)
|
rs876659558
|
|
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val)
|
rs876659558
|
|
NM_000051.4(ATM):c.6118G>A (p.Ala2040Thr)
|
|
|
NM_000051.4(ATM):c.6118_6119delinsAT (p.Ala2040Ile)
|
rs1555113730
|
|
NM_000051.4(ATM):c.6119C>A (p.Ala2040Glu)
|
rs1299506506
|
|
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val)
|
rs1299506506
|
|
NM_000051.4(ATM):c.6123G>A (p.Met2041Ile)
|
rs1555113740
|
|
NM_000051.4(ATM):c.6123G>T (p.Met2041Ile)
|
rs1555113740
|
|
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val)
|
rs753384717
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr)
|
rs2084616257
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6134C>T (p.Ala2045Val)
|
|
|
NM_000051.4(ATM):c.6135C>T (p.Ala2045=)
|
rs1555113771
|
|
NM_000051.4(ATM):c.6138A>G (p.Leu2046=)
|
rs1591778887
|
|
NM_000051.4(ATM):c.6139G>A (p.Val2047Ile)
|
rs1591778897
|
|
NM_000051.4(ATM):c.6139G>C (p.Val2047Leu)
|
rs1591778897
|
|
NM_000051.4(ATM):c.6140T>A (p.Val2047Glu)
|
rs878853528
|
|
NM_000051.4(ATM):c.6140T>G (p.Val2047Gly)
|
rs878853528
|
|
NM_000051.4(ATM):c.6141A>G (p.Val2047=)
|
rs978540099
|
|
NM_000051.4(ATM):c.6144A>G (p.Thr2048=)
|
rs1201081443
|
|
NM_000051.4(ATM):c.6144_6146del (p.Tyr2049del)
|
rs1591778969
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
NM_000051.4(ATM):c.6145_6147delinsAAA (p.Tyr2049Lys)
|
rs1591779011
|
|
NM_000051.4(ATM):c.6146A>G (p.Tyr2049Cys)
|
rs1233757467
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
NM_000051.4(ATM):c.6147del (p.Thr2048_Tyr2049insTer)
|
|
|
NM_000051.4(ATM):c.6150C>T (p.Asp2050=)
|
rs1057520805
|
|
NM_000051.4(ATM):c.6151C>A (p.Leu2051Ile)
|
rs1591779081
|
|
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly)
|
rs1591779138
|
|
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg)
|
rs2136130260
|
|
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
|
rs2084621452
|
|
NM_000051.4(ATM):c.6165C>A (p.Ile2055=)
|
rs779848229
|
|
NM_000051.4(ATM):c.6169TCA[1] (p.Ser2058del)
|
rs1555113809
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
NM_000051.4(ATM):c.6173C>T (p.Ser2058Leu)
|
rs1555113821
|
|
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala)
|
rs1329479941
|
|
NM_000051.4(ATM):c.6176C>A (p.Thr2059Lys)
|
rs144761622
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser)
|
rs587778078
|
|
NM_000051.4(ATM):c.6178C>G (p.Arg2060Gly)
|
|
|
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys)
|
rs587778078
|
|
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)
|
rs376521407
|
|
NM_000051.4(ATM):c.6179G>T (p.Arg2060Leu)
|
rs376521407
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
NM_000051.4(ATM):c.6182A>C (p.Gln2061Pro)
|
rs1591779456
|
|
NM_000051.4(ATM):c.6188G>C (p.Gly2063Ala)
|
rs866290641
|
|
NM_000051.4(ATM):c.6188G>T (p.Gly2063Val)
|
rs866290641
|
|
NM_000051.4(ATM):c.6190A>T (p.Ile2064Phe)
|
|
|
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)
|
rs1361215494
|
|
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg)
|
rs1565500074
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+3A>C
|
rs786202092
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6198G>A (p.Gln2066=)
|
rs786203341
|
|
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)
|
rs786203341
|
|
NM_000051.4(ATM):c.6199-3T>A
|
|
|
NM_000051.4(ATM):c.6199-5T>A
|
rs1555114533
|
|
NM_000051.4(ATM):c.6199-5_6199-1dup
|
rs1591788826
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6202T>C (p.Leu2068=)
|
rs2136162514
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6204G>A (p.Leu2068=)
|
|
|
NM_000051.4(ATM):c.6205C>G (p.Gln2069Glu)
|
rs1555114563
|
|
NM_000051.4(ATM):c.6206A>G (p.Gln2069Arg)
|
rs1591789003
|
|
NM_000051.4(ATM):c.6207G>A (p.Gln2069=)
|
|
|
NM_000051.4(ATM):c.6211T>C (p.Leu2071=)
|
rs928129862
|
|
NM_000051.4(ATM):c.6211T>G (p.Leu2071Val)
|
rs928129862
|
|
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)
|
rs1591789046
|
|
NM_000051.4(ATM):c.6213G>A (p.Leu2071=)
|
|
|
NM_000051.4(ATM):c.6213G>T (p.Leu2071Phe)
|
|
|
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg)
|
rs1555114568
|
|
NM_000051.4(ATM):c.6215G>A (p.Gly2072Glu)
|
rs1183544857
|
|
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val)
|
rs767406075
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6219C>A (p.Leu2073=)
|
|
|
NM_000051.4(ATM):c.6219_6229del (p.Cys2074fs)
|
|
|
NM_000051.4(ATM):c.6222C>T (p.Cys2074=)
|
|
|
NM_000051.4(ATM):c.6224A>G (p.His2075Arg)
|
rs1555114602
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6229C>A (p.Leu2077Ile)
|
rs1591789195
|
|
NM_000051.4(ATM):c.6237C>T (p.Val2079=)
|
|
|
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp)
|
rs1064795467
|
|
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)
|
rs587779855
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala)
|
rs1060501559
|
|
NM_000051.4(ATM):c.6249A>C (p.Gly2083=)
|
|
|
NM_000051.4(ATM):c.6249A>G (p.Gly2083=)
|
|
|
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val)
|
rs772608345
|
|
NM_000051.4(ATM):c.6252G>A (p.Leu2084=)
|
rs876658700
|
|
NM_000051.4(ATM):c.6254A>T (p.Asp2085Val)
|
rs2136165263
|
|
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys)
|
rs730881380
|
|
NM_000051.4(ATM):c.6259G>A (p.Glu2087Lys)
|
|
|
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly)
|
rs1565503023
|
|
NM_000051.4(ATM):c.6267A>C (p.Lys2089Asn)
|
rs863224577
|
|
NM_000051.4(ATM):c.6267dup (p.Asp2090fs)
|
|
|
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn)
|
rs915524411
|
|
NM_000051.4(ATM):c.6268G>T (p.Asp2090Tyr)
|
rs915524411
|
|
NM_000051.4(ATM):c.6270delinsTT (p.Trp2091fs)
|
rs1555114702
|
|
NM_000051.4(ATM):c.6271T>G (p.Trp2091Gly)
|
rs2084784301
|
|
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)
|
rs2136166539
|
|
NM_000051.4(ATM):c.6274T>G (p.Cys2092Gly)
|
rs1555114711
|
|
NM_000051.4(ATM):c.6275G>C (p.Cys2092Ser)
|
|
|
NM_000051.4(ATM):c.6279T>C (p.Pro2093=)
|
rs141370828
|
|
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
NM_000051.4(ATM):c.6283C>A (p.Leu2095Ile)
|
|
|
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del)
|
rs1565503206
|
|
NM_000051.4(ATM):c.6285A>G (p.Leu2095=)
|
rs1555114732
|
|
NM_000051.4(ATM):c.6286GAA[1] (p.Glu2097del)
|
|
|
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly)
|
rs1565503246
|
|
NM_000051.4(ATM):c.6288A>C (p.Glu2096Asp)
|
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
NM_000051.4(ATM):c.6291A>T (p.Glu2097Asp)
|
rs1555114739
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
NM_000051.4(ATM):c.6293T>G (p.Leu2098Arg)
|
rs587780631
|
|
NM_000051.4(ATM):c.6298T>C (p.Tyr2100His)
|
rs1555114752
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
NM_000051.4(ATM):c.6301C>G (p.Gln2101Glu)
|
rs876660164
|
|
NM_000051.4(ATM):c.6303A>C (p.Gln2101His)
|
rs876659325
|
|
NM_000051.4(ATM):c.6303A>G (p.Gln2101=)
|
rs876659325
|
|
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro)
|
rs1565503340
|
|
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val)
|
rs1591790037
|
|
NM_000051.4(ATM):c.6309A>C (p.Ala2103=)
|
|
|
NM_000051.4(ATM):c.6309A>G (p.Ala2103=)
|
rs2084789463
|
|
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser)
|
rs1064794143
|
|
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly)
|
rs879253983
|
|
NM_000051.4(ATM):c.6313A>T (p.Arg2105Trp)
|
rs879253983
|
|
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile)
|
rs587780633
|
|
NM_000051.4(ATM):c.6319A>G (p.Met2107Val)
|
|
|
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr)
|
rs1555114792
|
|
NM_000051.4(ATM):c.6323A>C (p.Gln2108Pro)
|
rs773891864
|
|
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg)
|
rs773891864
|
|
NM_000051.4(ATM):c.6323A>T (p.Gln2108Leu)
|
rs773891864
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)
|
rs1060501654
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
NM_000051.4(ATM):c.6327G>T (p.Trp2109Cys)
|
|
|
NM_000051.4(ATM):c.6328G>A (p.Asp2110Asn)
|
|
|
NM_000051.4(ATM):c.6330C>G (p.Asp2110Glu)
|
rs759029705
|
|
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)
|
rs759029705
|
|
NM_000051.4(ATM):c.6332A>C (p.His2111Pro)
|
rs876658300
|
|
NM_000051.4(ATM):c.6332A>T (p.His2111Leu)
|
|
|
NM_000051.4(ATM):c.6335dup (p.Cys2112fs)
|
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
|
|
|
NM_000051.4(ATM):c.6341C>A (p.Ser2114Tyr)
|
rs1591790425
|
|
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu)
|
rs587780634
|
|
NM_000051.4(ATM):c.6347+3A>G
|
rs1555114854
|
|
NM_000051.4(ATM):c.6347+4A>G
|
rs1342227995
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-1G>C
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-2A>C
|
|
|
NM_000051.4(ATM):c.6348-4A>G
|
rs1591099510
|
|
NM_000051.4(ATM):c.6348-989del
|
|
|
NM_000051.4(ATM):c.6348C>G (p.Ser2116Arg)
|
rs1591099608
|
|
NM_000051.4(ATM):c.6348C>T (p.Ser2116=)
|
rs1591099608
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
NM_000051.4(ATM):c.6353A>T (p.Glu2118Val)
|
rs2136218659
|
|
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu)
|
rs1266938537
|
|
NM_000051.4(ATM):c.6357A>G (p.Val2119=)
|
rs1060504295
|
|
NM_000051.4(ATM):c.6357A>T (p.Val2119=)
|
rs1060504295
|
|
NM_000051.4(ATM):c.6368G>A (p.Ser2123Asn)
|
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6369_6372del (p.Tyr2124fs)
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6372C>A (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=)
|
rs904589402
|
|
NM_000051.4(ATM):c.6375T>C (p.His2125=)
|
rs1591099942
|
|
NM_000051.4(ATM):c.6376G>A (p.Glu2126Lys)
|
rs1555116399
|
|
NM_000051.4(ATM):c.6376G>C (p.Glu2126Gln)
|
|
|
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)
|
rs1060504297
|
|
NM_000051.4(ATM):c.6383T>C (p.Leu2128Ser)
|
rs1565508867
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6385T>C (p.Tyr2129His)
|
rs876658542
|
|
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp)
|
rs876658542
|
|
NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)
|
|
|
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser)
|
rs2136220181
|
|
NM_000051.4(ATM):c.6390T>C (p.Asn2130=)
|
rs1555116433
|
|
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)
|
rs1060501594
|
|
NM_000051.4(ATM):c.6393T>C (p.Ala2131=)
|
rs1591100144
|
|
NM_000051.4(ATM):c.6395T>G (p.Leu2132Arg)
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6399A>G (p.Gln2133=)
|
rs750614487
|
|
NM_000051.4(ATM):c.6399dup (p.Ser2134fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)
|
rs758446561
|
|
NM_000051.4(ATM):c.6401C>A (p.Ser2134Tyr)
|
|
|
NM_000051.4(ATM):c.6401C>G (p.Ser2134Cys)
|
rs2136220770
|
|
NM_000051.4(ATM):c.6403C>G (p.Leu2135Val)
|
rs2085083391
|
|
NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs)
|
rs1555116468
|
|
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro)
|
rs1591100266
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6408A>G (p.Arg2136=)
|
rs1591100312
|
|
NM_000051.4(ATM):c.6409G>A (p.Asp2137Asn)
|
rs1389038955
|
|
NM_000051.4(ATM):c.6409G>C (p.Asp2137His)
|
rs1389038955
|
|
NM_000051.4(ATM):c.6414A>G (p.Arg2138=)
|
rs1591100396
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu)
|
rs1397647612
|
|
NM_000051.4(ATM):c.6422C>G (p.Ser2141Cys)
|
|
|
NM_000051.4(ATM):c.6423T>C (p.Ser2141=)
|
|
|
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala)
|
rs1263398076
|
|
NM_000051.4(ATM):c.6426A>G (p.Thr2142=)
|
rs1591100486
|
|
NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)
|
rs786202264
|
|
NM_000051.4(ATM):c.6434A>G (p.Glu2145Gly)
|
rs1255710647
|
|
NM_000051.4(ATM):c.6436A>G (p.Ser2146Gly)
|
rs2136222103
|
|
NM_000051.4(ATM):c.6436dup (p.Ser2146fs)
|
rs786202323
|
|
NM_000051.4(ATM):c.6438T>A (p.Ser2146Arg)
|
rs748544160
|
|
NM_000051.4(ATM):c.6439C>G (p.Leu2147Val)
|
|
|
NM_000051.4(ATM):c.6440T>C (p.Leu2147Pro)
|
rs1591100592
|
|
NM_000051.4(ATM):c.6440T>G (p.Leu2147Arg)
|
|
|
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr)
|
rs730881382
|
|
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)
|
rs730881382
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
NM_000051.4(ATM):c.6451A>C (p.Arg2151=)
|
|
|
NM_000051.4(ATM):c.6453-3T>A
|
rs768073845
|
|
NM_000051.4(ATM):c.6453-3T>C
|
rs768073845
|
|
NM_000051.4(ATM):c.6453-4C>G
|
rs2085189849
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
NM_000051.4(ATM):c.6453A>C (p.Arg2151Ser)
|
|
|
NM_000051.4(ATM):c.6453A>T (p.Arg2151Ser)
|
|
|
NM_000051.4(ATM):c.6454G>A (p.Val2152Ile)
|
rs753158040
|
|
NM_000051.4(ATM):c.6457A>C (p.Lys2153Gln)
|
rs1386239935
|
|
NM_000051.4(ATM):c.6460G>C (p.Glu2154Gln)
|
|
|
NM_000051.4(ATM):c.6460G>T (p.Glu2154Ter)
|
|
|
NM_000051.4(ATM):c.6461A>T (p.Glu2154Val)
|
rs2136238562
|
|
NM_000051.4(ATM):c.6462A>G (p.Glu2154=)
|
rs756453090
|
|
NM_000051.4(ATM):c.6463G>T (p.Val2155Leu)
|
|
|
NM_000051.4(ATM):c.6466del (p.Glu2156fs)
|
|
|
NM_000051.4(ATM):c.6468A>G (p.Glu2156=)
|
|
|
NM_000051.4(ATM):c.6470A>G (p.Glu2157Gly)
|
rs1591106982
|
|
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr)
|
rs1453101465
|
|
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile)
|
rs1565511084
|
|
NM_000051.4(ATM):c.6475T>A (p.Cys2159Ser)
|
|
|
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg)
|
rs150408832
|
|
NM_000051.4(ATM):c.6476G>A (p.Cys2159Tyr)
|
rs1591107053
|
|
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp)
|
rs587781789
|
|
NM_000051.4(ATM):c.6478A>T (p.Lys2160Ter)
|
|
|
NM_000051.4(ATM):c.6481C>G (p.Arg2161Gly)
|
rs1064793958
|
|
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys)
|
rs1064793958
|
|
NM_000051.4(ATM):c.6484A>G (p.Ser2162Gly)
|
rs2085194212
|
|
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg)
|
rs138166710
|
|
NM_000051.4(ATM):c.6487C>G (p.Leu2163Val)
|
rs1591107130
|
|
NM_000051.4(ATM):c.6488T>A (p.Leu2163His)
|
|
|
NM_000051.4(ATM):c.6488T>G (p.Leu2163Arg)
|
rs779742477
|
|
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)
|
rs1317619286
|
|
NM_000051.4(ATM):c.6491A>C (p.Glu2164Ala)
|
rs1591107186
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
NM_000051.4(ATM):c.6493T>C (p.Ser2165Pro)
|
|
|
NM_000051.4(ATM):c.6498G>A (p.Val2166=)
|
rs746514937
|
|
NM_000051.4(ATM):c.6504G>C (p.Ser2168=)
|
|
|
NM_000051.4(ATM):c.6504G>T (p.Ser2168=)
|
|
|
NM_000051.4(ATM):c.6505C>T (p.Leu2169Phe)
|
rs1064794157
|
|
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
|
|
|
NM_000051.4(ATM):c.6508T>C (p.Tyr2170His)
|
rs587782327
|
|
NM_000051.4(ATM):c.6513C>T (p.Pro2171=)
|
|
|
NM_000051.4(ATM):c.6515C>T (p.Thr2172Ile)
|
|
|
NM_000051.4(ATM):c.6516A>C (p.Thr2172=)
|
rs576254168
|
|
NM_000051.4(ATM):c.6516A>T (p.Thr2172=)
|
|
|
NM_000051.4(ATM):c.6518T>C (p.Leu2173Pro)
|
|
|
NM_000051.4(ATM):c.6518T>G (p.Leu2173Arg)
|
|
|
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg)
|
rs772850740
|
|
NM_000051.4(ATM):c.6522C>G (p.Ser2174Arg)
|
|
|
NM_000051.4(ATM):c.6523A>C (p.Arg2175=)
|
rs2085199556
|
|
NM_000051.4(ATM):c.6524G>A (p.Arg2175Lys)
|
rs1555117188
|
|
NM_000051.4(ATM):c.6524G>T (p.Arg2175Met)
|
rs1555117188
|
|
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
|
rs2085199149
|
|
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp)
|
rs1555117194
|
|
NM_000051.4(ATM):c.6530A>G (p.Gln2177Arg)
|
rs1060501573
|
|
NM_000051.4(ATM):c.6534C>T (p.Ala2178=)
|
rs1555117210
|
|
NM_000051.4(ATM):c.6535A>G (p.Ile2179Val)
|
rs2136241829
|
|
NM_000051.4(ATM):c.6537T>C (p.Ile2179=)
|
|
|
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys)
|
rs2136242185
|
|
NM_000051.4(ATM):c.6542A>G (p.Glu2181Gly)
|
rs2085203449
|
|
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter)
|
rs2085204408
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
|
NM_000051.4(ATM):c.6553A>T (p.Ile2185Phe)
|
rs2085205198
|
|
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile)
|
rs1060501682
|
|
NM_000051.4(ATM):c.6562C>G (p.Leu2188Val)
|
|
|
NM_000051.4(ATM):c.6570A>C (p.Ser2190=)
|
|
|
NM_000051.4(ATM):c.6570A>G (p.Ser2190=)
|
rs1591107853
|
|
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly)
|
rs587781861
|
|
NM_000051.4(ATM):c.6572+1523dup
|
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
NM_000051.4(ATM):c.6572+3A>G
|
rs778574672
|
|
NM_000051.4(ATM):c.6572+4T>G
|
|
|
NM_000051.4(ATM):c.6572G>A (p.Arg2191Lys)
|
rs1196814221
|
|
NM_000051.4(ATM):c.6572G>T (p.Arg2191Ile)
|
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-1G>A
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>T
|
|
|
NM_000051.4(ATM):c.6573-3C>G
|
|
|
NM_000051.4(ATM):c.6573-4T>C
|
|
|
NM_000051.4(ATM):c.6573-5T>C
|
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile)
|
rs754555043
|
|
NM_000051.4(ATM):c.6581C>A (p.Thr2194Lys)
|
|
|
NM_000051.4(ATM):c.6581C>T (p.Thr2194Ile)
|
rs1476384636
|
|
NM_000051.4(ATM):c.6583C>G (p.His2195Asp)
|
|
|
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)
|
rs780946471
|
|
NM_000051.4(ATM):c.6584A>C (p.His2195Pro)
|
rs1565518051
|
|
NM_000051.4(ATM):c.6585T>A (p.His2195Gln)
|
|
|
NM_000051.4(ATM):c.6585T>C (p.His2195=)
|
rs786203401
|
|
NM_000051.4(ATM):c.6586A>C (p.Arg2196=)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6589C>T (p.Gln2197Ter)
|
|
|
NM_000051.4(ATM):c.6591A>G (p.Gln2197=)
|
rs863224296
|
|
NM_000051.4(ATM):c.6592C>A (p.Leu2198Ile)
|
|
|
NM_000051.4(ATM):c.6593T>A (p.Leu2198His)
|
|
|
NM_000051.4(ATM):c.6594C>G (p.Leu2198=)
|
|
|
NM_000051.4(ATM):c.6594C>T (p.Leu2198=)
|
|
|
NM_000051.4(ATM):c.6596C>A (p.Ser2199Tyr)
|
rs1591128462
|
|
NM_000051.4(ATM):c.6597T>G (p.Ser2199=)
|
|
|
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala)
|
rs876658435
|
|
NM_000051.4(ATM):c.6603A>G (p.Val2201=)
|
rs863224297
|
|
NM_000051.4(ATM):c.6603A>T (p.Val2201=)
|
|
|
NM_000051.4(ATM):c.6605A>G (p.Tyr2202Cys)
|
|
|
NM_000051.4(ATM):c.6606T>A (p.Tyr2202Ter)
|
rs1367617850
|
|
NM_000051.4(ATM):c.6610A>C (p.Lys2204Gln)
|
rs2085553991
|
|
NM_000051.4(ATM):c.6612G>A (p.Lys2204=)
|
rs876660650
|
|
NM_000051.4(ATM):c.6613T>C (p.Trp2205Arg)
|
rs755656958
|
|
NM_000051.4(ATM):c.6616C>G (p.Gln2206Glu)
|
rs2085554912
|
|
NM_000051.4(ATM):c.6618G>C (p.Gln2206His)
|
rs2085555121
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
NM_000051.4(ATM):c.6624C>A (p.His2208Gln)
|
rs2136309199
|
|
NM_000051.4(ATM):c.6625T>A (p.Ser2209Thr)
|
|
|
NM_000051.4(ATM):c.6626C>G (p.Ser2209Cys)
|
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
NM_000051.4(ATM):c.6629A>G (p.Gln2210Arg)
|
|
|
NM_000051.4(ATM):c.6632T>G (p.Leu2211Arg)
|
rs2136309652
|
|
NM_000051.4(ATM):c.6633_6634delinsAA (p.Leu2212Ile)
|
rs1555119055
|
|
NM_000051.4(ATM):c.6635T>C (p.Leu2212Pro)
|
|
|
NM_000051.4(ATM):c.6636C>A (p.Leu2212=)
|
rs876659563
|
|
NM_000051.4(ATM):c.6637A>G (p.Lys2213Glu)
|
|
|
NM_000051.4(ATM):c.6639G>A (p.Lys2213=)
|
rs1555119063
|
|
NM_000051.4(ATM):c.6643A>G (p.Ser2215Gly)
|
rs730881312
|
|
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg)
|
rs1064794485
|
|
NM_000051.4(ATM):c.6648_6652dup (p.Ser2218fs)
|
|
|
NM_000051.4(ATM):c.6650T>A (p.Phe2217Tyr)
|
rs876659101
|
|
NM_000051.4(ATM):c.6650_6651del (p.Asp2216_Phe2217insTer)
|
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
NM_000051.4(ATM):c.6655T>G (p.Phe2219Val)
|
rs2136310909
|
|
NM_000051.4(ATM):c.6656T>C (p.Phe2219Ser)
|
rs1244168959
|
|
NM_000051.4(ATM):c.6656T>G (p.Phe2219Cys)
|
|
|
NM_000051.4(ATM):c.6657T>G (p.Phe2219Leu)
|
rs2085560685
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys)
|
rs1591128898
|
|
NM_000051.4(ATM):c.6664C>G (p.Pro2222Ala)
|
|
|
NM_000051.4(ATM):c.6664C>T (p.Pro2222Ser)
|
|
|
NM_000051.4(ATM):c.6665C>A (p.Pro2222His)
|
rs997021874
|
|
NM_000051.4(ATM):c.6665C>G (p.Pro2222Arg)
|
rs997021874
|
|
NM_000051.4(ATM):c.6665C>T (p.Pro2222Leu)
|
|
|
NM_000051.4(ATM):c.6666T>C (p.Pro2222=)
|
rs1591128954
|
|
NM_000051.4(ATM):c.6666T>G (p.Pro2222=)
|
|
|
NM_000051.4(ATM):c.6666_6669dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val)
|
rs1028293945
|
|
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
|
|
|
NM_000051.4(ATM):c.6672G>A (p.Met2224Ile)
|
rs2136311974
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
NM_000051.4(ATM):c.6673dup (p.Ala2225fs)
|
rs587781872
|
|
NM_000051.4(ATM):c.6674C>T (p.Ala2225Val)
|
|
|
NM_000051.4(ATM):c.6677_6683del (p.Leu2226fs)
|
|
|
NM_000051.4(ATM):c.6679C>A (p.Arg2227Ser)
|
rs564652222
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
NM_000051.4(ATM):c.6681C>A (p.Arg2227=)
|
rs775850434
|
|
NM_000051.4(ATM):c.6683C>G (p.Thr2228Arg)
|
|
|
NM_000051.4(ATM):c.6683C>T (p.Thr2228Ile)
|
|
|
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs)
|
rs1565518539
|
|
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp)
|
rs1555119144
|
|
NM_000051.4(ATM):c.6688A>T (p.Ile2230Phe)
|
|
|
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)
|
rs587781562
|
|
NM_000051.4(ATM):c.6691_6692insCTTTT (p.Leu2231fs)
|
|
|
NM_000051.4(ATM):c.6696G>C (p.Glu2232Asp)
|
rs1591129223
|
|
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)
|
rs1385625521
|
|
NM_000051.4(ATM):c.6699C>T (p.Ile2233=)
|
rs1555119149
|
|
NM_000051.4(ATM):c.6701T>C (p.Leu2234Pro)
|
rs1158183992
|
|
NM_000051.4(ATM):c.6706G>T (p.Glu2236Ter)
|
rs1591129305
|
|
NM_000051.4(ATM):c.6709A>G (p.Lys2237Glu)
|
|
|
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg)
|
rs35118109
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6713A>C (p.Glu2238Ala)
|
rs1591129372
|
|
NM_000051.4(ATM):c.6713A>T (p.Glu2238Val)
|
rs1591129372
|
|
NM_000051.4(ATM):c.6717G>T (p.Met2239Ile)
|
rs1555119181
|
|
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)
|
rs587782478
|
|
NM_000051.4(ATM):c.6722A>C (p.Asn2241Thr)
|
rs786202583
|
|
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser)
|
rs786202583
|
|
NM_000051.4(ATM):c.6723C>T (p.Asn2241=)
|
rs750763671
|
|
NM_000051.4(ATM):c.6724T>A (p.Ser2242Thr)
|
rs1309164461
|
|
NM_000051.4(ATM):c.6725del (p.Ser2242fs)
|
rs876658394
|
|
NM_000051.4(ATM):c.6727C>A (p.Gln2243Lys)
|
rs1565518711
|
|
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro)
|
rs1565518723
|
|
NM_000051.4(ATM):c.6729A>G (p.Gln2243=)
|
rs763431129
|
|
NM_000051.4(ATM):c.6731G>C (p.Arg2244Thr)
|
|
|
NM_000051.4(ATM):c.6732A>G (p.Arg2244=)
|
|
|
NM_000051.4(ATM):c.6733G>A (p.Glu2245Lys)
|
rs2085572299
|
|
NM_000051.4(ATM):c.6733G>T (p.Glu2245Ter)
|
|
|
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
|
|
|
NM_000051.4(ATM):c.6734A>G (p.Glu2245Gly)
|
rs1555119214
|
|
NM_000051.4(ATM):c.6735dup (p.Cys2246fs)
|
rs2136315218
|
|
NM_000051.4(ATM):c.6736T>C (p.Cys2246Arg)
|
|
|
NM_000051.4(ATM):c.6737G>T (p.Cys2246Phe)
|
|
|
NM_000051.4(ATM):c.6739A>C (p.Ile2247Leu)
|
rs587781521
|
|
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu)
|
rs1555119232
|
|
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr)
|
rs1555119235
|
|
NM_000051.4(ATM):c.6747C>T (p.Asp2249=)
|
rs1555119240
|
|
NM_000051.4(ATM):c.6748dup (p.Ile2250fs)
|
rs1555119247
|
|
NM_000051.4(ATM):c.6751C>G (p.Leu2251Val)
|
rs2085575228
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro)
|
rs1262434611
|
|
NM_000051.4(ATM):c.6755C>A (p.Thr2252Asn)
|
rs755531586
|
|
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser)
|
rs755531586
|
|
NM_000051.4(ATM):c.6756C>G (p.Thr2252=)
|
|
|
NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln)
|
rs863224578
|
|
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu)
|
rs863224578
|
|
NM_000051.4(ATM):c.6757_6758insT (p.Lys2253fs)
|
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg)
|
rs786203332
|
|
NM_000051.4(ATM):c.6762C>T (p.His2254=)
|
rs563933875
|
|
NM_000051.4(ATM):c.6763C>T (p.Leu2255Phe)
|
rs2085578159
|
|
NM_000051.4(ATM):c.6764T>G (p.Leu2255Arg)
|
rs876658966
|
|
NM_000051.4(ATM):c.6765T>C (p.Leu2255=)
|
rs587780637
|
|
NM_000051.4(ATM):c.6766G>A (p.Val2256Ile)
|
rs1565519006
|
|
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys)
|
rs786202094
|
|
NM_000051.4(ATM):c.6776C>T (p.Ser2259Phe)
|
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
NM_000051.4(ATM):c.6777T>C (p.Ser2259=)
|
rs1057522874
|
|
NM_000051.4(ATM):c.6779T>G (p.Ile2260Arg)
|
|
|
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met)
|
rs1555119325
|
|
NM_000051.4(ATM):c.6781C>G (p.Leu2261Val)
|
rs757243222
|
|
NM_000051.4(ATM):c.6781C>T (p.Leu2261=)
|
|
|
NM_000051.4(ATM):c.6783G>T (p.Leu2261=)
|
|
|
NM_000051.4(ATM):c.6785C>A (p.Ala2262Asp)
|
rs876660017
|
|
NM_000051.4(ATM):c.6786_6791del (p.Arg2263_Thr2264del)
|
rs1565519112
|
|
NM_000051.4(ATM):c.6794T>C (p.Phe2265Ser)
|
|
|
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys)
|
rs1179172483
|
|
NM_000051.4(ATM):c.6795C>A (p.Phe2265Leu)
|
rs3218699
|
|
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
NM_000051.4(ATM):c.6796A>C (p.Lys2266Gln)
|
rs45481995
|
|
NM_000051.4(ATM):c.6796A>T (p.Lys2266Ter)
|
|
|
NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg)
|
rs1591130168
|
|
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)
|
rs1555119364
|
|
NM_000051.4(ATM):c.6801C>T (p.Asn2267=)
|
rs1591130210
|
|
NM_000051.4(ATM):c.6802A>G (p.Thr2268Ala)
|
rs1391132040
|
|
NM_000051.4(ATM):c.6805C>A (p.Gln2269Lys)
|
rs2085584895
|
|
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
|
rs2085584895
|
|
NM_000051.4(ATM):c.6807+1_6807+7del
|
|
|
NM_000051.4(ATM):c.6808C>A (p.Leu2270Ile)
|
|
|
NM_000051.4(ATM):c.6808_6810delinsTTT (p.Leu2270Phe)
|
|
|
NM_000051.4(ATM):c.6810C>T (p.Leu2270=)
|
rs1060504305
|
|
NM_000051.4(ATM):c.6811C>T (p.Pro2271Ser)
|
rs1591133084
|
|
NM_000051.4(ATM):c.6812C>G (p.Pro2271Arg)
|
|
|
NM_000051.4(ATM):c.6812del (p.Pro2271fs)
|
|
|
NM_000051.4(ATM):c.6813T>C (p.Pro2271=)
|
rs1555119714
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6816A>G (p.Glu2272=)
|
rs1555119726
|
|
NM_000051.4(ATM):c.6818_6823del (p.Arg2273_Ala2274del)
|
rs1591133168
|
|
NM_000051.4(ATM):c.6820G>T (p.Ala2274Ser)
|
rs567060474
|
|
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr)
|
rs1283858462
|
|
NM_000051.4(ATM):c.6827T>G (p.Phe2276Cys)
|
rs753389616
|
|
NM_000051.4(ATM):c.6827_6828inv (p.Phe2276Ter)
|
|
|
NM_000051.4(ATM):c.6828T>A (p.Phe2276Leu)
|
rs1225138469
|
|
NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)
|
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
NM_000051.4(ATM):c.6830A>C (p.Gln2277Pro)
|
|
|
NM_000051.4(ATM):c.6831A>T (p.Gln2277His)
|
rs1339794219
|
|
NM_000051.4(ATM):c.6834T>G (p.Ile2278Met)
|
rs1591133356
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
|
|
|
NM_000051.4(ATM):c.6844A>G (p.Asn2282Asp)
|
rs951881516
|
|
NM_000051.4(ATM):c.6845A>C (p.Asn2282Thr)
|
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
|
|
|
NM_000051.4(ATM):c.6849A>G (p.Ser2283=)
|
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6852T>C (p.Val2284=)
|
|
|
NM_000051.4(ATM):c.6854G>T (p.Ser2285Ile)
|
|
|
NM_000051.4(ATM):c.6855C>T (p.Ser2285=)
|
|
|
NM_000051.4(ATM):c.6856T>C (p.Cys2286Arg)
|
|
|
NM_000051.4(ATM):c.6857G>A (p.Cys2286Tyr)
|
rs786203052
|
|
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg)
|
rs1181779478
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6864C>T (p.Val2288=)
|
rs2136334108
|
|
NM_000051.4(ATM):c.6865T>C (p.Ser2289Pro)
|
rs2085653356
|
|
NM_000051.4(ATM):c.6866C>T (p.Ser2289Phe)
|
rs1555119833
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln)
|
rs1479339581
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
NM_000051.4(ATM):c.6869A>G (p.Glu2290Gly)
|
rs1555119842
|
|
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
|
|
|
NM_000051.4(ATM):c.6877C>G (p.Leu2293Val)
|
|
|
NM_000051.4(ATM):c.6878T>A (p.Leu2293Gln)
|
|
|
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro)
|
rs1450429233
|
|
NM_000051.4(ATM):c.6882A>G (p.Glu2294=)
|
rs1555119866
|
|
NM_000051.4(ATM):c.6885A>G (p.Glu2295=)
|
rs748221367
|
|
NM_000051.4(ATM):c.6886G>A (p.Ala2296Thr)
|
rs2085656079
|
|
NM_000051.4(ATM):c.6888del (p.Gln2297fs)
|
|
|
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro)
|
rs1565520560
|
|
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)
|
rs773545588
|
|
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
|
|
|
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu)
|
rs1555119886
|
|
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu)
|
rs777164914
|
|
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
|
rs1565520641
|
|
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys)
|
rs1591133875
|
|
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr)
|
rs1060501668
|
|
NM_000051.4(ATM):c.6901G>C (p.Ala2301Pro)
|
rs1060501668
|
|
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
|
|
|
NM_000051.4(ATM):c.6908A>C (p.Lys2303Thr)
|
rs1064795166
|
|
NM_000051.4(ATM):c.6908A>G (p.Lys2303Arg)
|
|
|
NM_000051.4(ATM):c.6908A>T (p.Lys2303Met)
|
rs1064795166
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6910del (p.Glu2304fs)
|
rs1555119940
|
|
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
|
|
|
NM_000051.4(ATM):c.6913C>G (p.Gln2305Glu)
|
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6917G>A (p.Ser2306Asn)
|
rs1591133976
|
|
NM_000051.4(ATM):c.6918T>C (p.Ser2306=)
|
rs1555119959
|
|
NM_000051.4(ATM):c.6919C>G (p.Leu2307Val)
|
rs56009889
|
|
NM_000051.4(ATM):c.6921T>G (p.Leu2307=)
|
rs1555119966
|
|
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr)
|
rs1591134072
|
|
NM_000051.4(ATM):c.6922G>T (p.Ala2308Ser)
|
rs1591134072
|
|
NM_000051.4(ATM):c.6923C>G (p.Ala2308Gly)
|
|
|
NM_000051.4(ATM):c.6923C>T (p.Ala2308Val)
|
rs876658454
|
|
NM_000051.4(ATM):c.6925C>G (p.Leu2309Val)
|
rs763839047
|
|
NM_000051.4(ATM):c.6927G>A (p.Leu2309=)
|
rs876660429
|
|
NM_000051.4(ATM):c.6928A>G (p.Ser2310Gly)
|
rs572301723
|
|
NM_000051.4(ATM):c.6930T>C (p.Ser2310=)
|
rs876660710
|
|
NM_000051.4(ATM):c.6935T>C (p.Leu2312Pro)
|
rs761352263
|
|
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter)
|
rs2136338211
|
|
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile)
|
rs1555120014
|
|
NM_000051.4(ATM):c.6945G>C (p.Met2315Ile)
|
|
|
NM_000051.4(ATM):c.6947dup (p.Lys2317fs)
|
|
|
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln)
|
rs1449259481
|
|
NM_000051.4(ATM):c.6954G>A (p.Lys2318=)
|
rs1555120044
|
|
NM_000051.4(ATM):c.6955T>A (p.Leu2319Met)
|
rs1555120047
|
|
NM_000051.4(ATM):c.6956T>G (p.Leu2319Trp)
|
rs1555120049
|
|
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly)
|
rs1060501640
|
|
NM_000051.4(ATM):c.6962C>T (p.Ala2321Val)
|
|
|
NM_000051.4(ATM):c.6963C>T (p.Ala2321=)
|
rs1555120057
|
|
NM_000051.4(ATM):c.6965G>T (p.Ser2322Ile)
|
rs876659183
|
|
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr)
|
rs876660924
|
|
NM_000051.4(ATM):c.6968G>C (p.Cys2323Ser)
|
|
|
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe)
|
rs876660924
|
|
NM_000051.4(ATM):c.6970G>A (p.Ala2324Thr)
|
|
|
NM_000051.4(ATM):c.6971C>A (p.Ala2324Glu)
|
|
|
NM_000051.4(ATM):c.6975+1G>A
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+1G>T
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
NM_000051.4(ATM):c.6975+4T>A
|
rs876660240
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
NM_000051.4(ATM):c.6975+5_6975+8del
|
rs1565521135
|
|
NM_000051.4(ATM):c.6975+5_6975+9del
|
rs1555120086
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6976-11_6976-8delinsATA
|
|
|
NM_000051.4(ATM):c.6976-12T>G
|
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6976-2A>G
|
rs587782403
|
|
NM_000051.4(ATM):c.6976-5T>A
|
|
|
NM_000051.4(ATM):c.6976-5T>C
|
rs1555120913
|
|
NM_000051.4(ATM):c.6976A>G (p.Asn2326Asp)
|
|
|
NM_000051.4(ATM):c.6978C>T (p.Asn2326=)
|
|
|
NM_000051.4(ATM):c.6980A>G (p.Asn2327Ser)
|
|
|
NM_000051.4(ATM):c.6982C>A (p.Pro2328Thr)
|
rs769606850
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
NM_000051.4(ATM):c.6990A>G (p.Leu2330=)
|
rs2136373497
|
|
NM_000051.4(ATM):c.6994C>G (p.Leu2332Val)
|
rs762427092
|
|
NM_000051.4(ATM):c.6994C>T (p.Leu2332Phe)
|
rs762427092
|
|
NM_000051.4(ATM):c.6995T>G (p.Leu2332Arg)
|
rs4988111
|
|
NM_000051.4(ATM):c.6996del (p.Thr2333fs)
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000051.4(ATM):c.6998C>G (p.Thr2333Arg)
|
rs150503164
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.6999A>G (p.Thr2333=)
|
rs759267807
|
|
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His)
|
rs1064793312
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7002del (p.Thr2333_Tyr2334insTer)
|
|
|
NM_000051.4(ATM):c.7003A>C (p.Thr2335Pro)
|
rs1555120970
|
|
NM_000051.4(ATM):c.7004_7005del (p.Thr2335fs)
|
|
|
NM_000051.4(ATM):c.7008A>G (p.Glu2336=)
|
rs2136374637
|
|
NM_000051.4(ATM):c.7009T>C (p.Cys2337Arg)
|
rs2136374685
|
|
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr)
|
rs876658563
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)
|
rs1555120985
|
|
NM_000051.4(ATM):c.7011T>A (p.Cys2337Ter)
|
|
|
NM_000051.4(ATM):c.7011T>C (p.Cys2337=)
|
rs878853536
|
|
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
|
|
|
NM_000051.4(ATM):c.7013T>A (p.Leu2338Gln)
|
|
|
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile)
|
rs876659429
|
|
NM_000051.4(ATM):c.7021del (p.Cys2341fs)
|
|
|
NM_000051.4(ATM):c.7022G>C (p.Cys2341Ser)
|
|
|
NM_000051.4(ATM):c.7023T>C (p.Cys2341=)
|
rs878853537
|
|
NM_000051.4(ATM):c.7025G>T (p.Gly2342Val)
|
|
|
NM_000051.4(ATM):c.7026C>T (p.Gly2342=)
|
|
|
NM_000051.4(ATM):c.7026dup (p.Asn2343fs)
|
rs1555121020
|
|
NM_000051.4(ATM):c.7028A>G (p.Asn2343Ser)
|
rs876658507
|
|
NM_000051.4(ATM):c.7028del (p.Asn2343fs)
|
rs1591142530
|
|
NM_000051.4(ATM):c.7029C>G (p.Asn2343Lys)
|
|
|
NM_000051.4(ATM):c.7033T>G (p.Leu2345Val)
|
rs1555121048
|
|
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr)
|
rs144497088
|
|
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met)
|
rs866740291
|
|
NM_000051.4(ATM):c.7043_7054dup (p.Glu2351_Asn2352insThrCysLeuGlu)
|
|
|
NM_000051.4(ATM):c.7044_7047del (p.Thr2348_Cys2349insTer)
|
rs1555121066
|
|
NM_000051.4(ATM):c.7050A>G (p.Leu2350=)
|
rs1555121076
|
|
NM_000051.4(ATM):c.7051G>A (p.Glu2351Lys)
|
|
|
NM_000051.4(ATM):c.7057C>A (p.Pro2353Thr)
|
rs1591142717
|
|
NM_000051.4(ATM):c.7058C>G (p.Pro2353Arg)
|
|
|
NM_000051.4(ATM):c.7058C>T (p.Pro2353Leu)
|
rs2136377844
|
|
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
|
|
|
NM_000051.4(ATM):c.7059_7070del (p.Ala2354_Met2357del)
|
|
|
NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr)
|
rs1591142727
|
|
NM_000051.4(ATM):c.7061C>A (p.Ala2354Glu)
|
rs1555121079
|
|
NM_000051.4(ATM):c.7061C>G (p.Ala2354Gly)
|
|
|
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val)
|
rs1555121079
|
|
NM_000051.4(ATM):c.7062G>C (p.Ala2354=)
|
rs143489373
|
|
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp)
|
rs1197214197
|
|
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val)
|
rs876658517
|
|
NM_000051.4(ATM):c.7066A>T (p.Ile2356Phe)
|
rs876658517
|
|
NM_000051.4(ATM):c.7068C>G (p.Ile2356Met)
|
rs1591142832
|
|
NM_000051.4(ATM):c.7070T>C (p.Met2357Thr)
|
rs1591142855
|
|
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)
|
rs753951063
|
|
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile)
|
rs753951063
|
|
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)
|
|
|
NM_000051.4(ATM):c.7074G>A (p.Gln2358=)
|
rs1060501593
|
|
NM_000051.4(ATM):c.7074G>T (p.Gln2358His)
|
rs1060501593
|
|
NM_000051.4(ATM):c.7075A>G (p.Thr2359Ala)
|
|
|
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)
|
rs730881314
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His)
|
rs587779860
|
|
NM_000051.4(ATM):c.7079A>G (p.Tyr2360Cys)
|
rs1555121141
|
|
NM_000051.4(ATM):c.7080T>C (p.Tyr2360=)
|
rs1555121147
|
|
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile)
|
rs1412288141
|
|
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro)
|
rs1169558907
|
|
NM_000051.4(ATM):c.7084G>A (p.Glu2362Lys)
|
|
|
NM_000051.4(ATM):c.7084G>C (p.Glu2362Gln)
|
|
|
NM_000051.4(ATM):c.7087A>G (p.Lys2363Glu)
|
|
|
NM_000051.4(ATM):c.7088A>G (p.Lys2363Arg)
|
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.7089+1G>A
|
rs777741666
|
|
NM_000051.4(ATM):c.7089+2T>G
|
rs1057516235
|
|
NM_000051.4(ATM):c.7089+3A>G
|
rs1565524203
|
|
NM_000051.4(ATM):c.7089+4A>C
|
rs2136380076
|
|
NM_000051.4(ATM):c.7089+5G>A
|
rs1351209504
|
|
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
|
|
|
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro)
|
rs759439613
|
|
NM_000051.4(ATM):c.7091C>T (p.Ala2364Val)
|
rs1555121919
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
NM_000051.4(ATM):c.7095A>G (p.Val2365=)
|
|
|
NM_000051.4(ATM):c.7095A>T (p.Val2365=)
|
|
|
NM_000051.4(ATM):c.7096G>C (p.Glu2366Gln)
|
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile)
|
rs1060501647
|
|
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu)
|
rs1060501647
|
|
NM_000051.4(ATM):c.7100T>C (p.Val2367Ala)
|
|
|
NM_000051.4(ATM):c.7103C>T (p.Ala2368Val)
|
rs1591150471
|
|
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu)
|
rs2085974792
|
|
NM_000051.4(ATM):c.7109A>G (p.Asn2370Ser)
|
rs1555121947
|
|
NM_000051.4(ATM):c.7112A>G (p.Tyr2371Cys)
|
rs1565526394
|
|
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=)
|
rs760534895
|
|
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala)
|
rs587782225
|
|
NM_000051.4(ATM):c.7122A>G (p.Glu2374=)
|
rs376159946
|
|
NM_000051.4(ATM):c.7124G>A (p.Ser2375Asn)
|
rs1297882250
|
|
NM_000051.4(ATM):c.7125T>C (p.Ser2375=)
|
rs878853539
|
|
NM_000051.4(ATM):c.7127G>A (p.Ser2376Asn)
|
|
|
NM_000051.4(ATM):c.7132G>A (p.Glu2378Lys)
|
|
|
NM_000051.4(ATM):c.7132G>C (p.Glu2378Gln)
|
|
|
NM_000051.4(ATM):c.7134G>C (p.Glu2378Asp)
|
|
|
NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)
|
|
|
NM_000051.4(ATM):c.7140A>G (p.Arg2380=)
|
rs750569023
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala)
|
rs1060501639
|
|
NM_000051.4(ATM):c.7154A>G (p.Lys2385Arg)
|
|
|
NM_000051.4(ATM):c.7155G>A (p.Lys2385=)
|
rs878853540
|
|
NM_000051.4(ATM):c.7156G>T (p.Ala2386Ser)
|
rs876659392
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7164C>G (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7164C>T (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7170A>C (p.Leu2390Phe)
|
rs1591150977
|
|
NM_000051.4(ATM):c.7171G>A (p.Ala2391Thr)
|
rs2136415110
|
|
NM_000051.4(ATM):c.7175G>A (p.Arg2392Gln)
|
rs876659083
|
|
NM_000051.4(ATM):c.7175G>C (p.Arg2392Pro)
|
rs876659083
|
|
NM_000051.4(ATM):c.7176G>A (p.Arg2392=)
|
|
|
NM_000051.4(ATM):c.7176G>C (p.Arg2392=)
|
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.7182A>C (p.Ser2394=)
|
rs976994998
|
|
NM_000051.4(ATM):c.7182A>G (p.Ser2394=)
|
rs976994998
|
|
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val)
|
rs1555122090
|
|
NM_000051.4(ATM):c.7185_7186del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
|
|
|
NM_000051.4(ATM):c.7188T>G (p.Thr2396=)
|
|
|
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)
|
rs747372355
|
|
NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg)
|
rs1060501592
|
|
NM_000051.4(ATM):c.7191A>T (p.Gln2397His)
|
|
|
NM_000051.4(ATM):c.7193A>G (p.Tyr2398Cys)
|
rs1591151173
|
|
NM_000051.4(ATM):c.7195C>A (p.Gln2399Lys)
|
rs2085985186
|
|
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu)
|
rs2085985186
|
|
NM_000051.4(ATM):c.7196A>G (p.Gln2399Arg)
|
rs1565526758
|
|
NM_000051.4(ATM):c.7198A>C (p.Arg2400=)
|
rs777423778
|
|
NM_000051.4(ATM):c.7198A>G (p.Arg2400Gly)
|
rs777423778
|
|
NM_000051.4(ATM):c.7201del (p.Ile2401fs)
|
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
NM_000051.4(ATM):c.7210T>C (p.Tyr2404His)
|
|
|
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys)
|
rs1064794093
|
|
NM_000051.4(ATM):c.7212C>A (p.Tyr2404Ter)
|
|
|
NM_000051.4(ATM):c.7212C>G (p.Tyr2404Ter)
|
|
|
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu)
|
rs587781323
|
|
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro)
|
rs1565526951
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)
|
rs730881315
|
|
NM_000051.4(ATM):c.7224G>C (p.Ser2408=)
|
rs145747513
|
|
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr)
|
rs758351633
|
|
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)
|
rs758351633
|
|
NM_000051.4(ATM):c.7230T>G (p.Phe2410Leu)
|
rs1565527030
|
|
NM_000051.4(ATM):c.7232A>C (p.Glu2411Ala)
|
|
|
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp)
|
rs2085991994
|
|
NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr)
|
rs786203311
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7237A>G (p.Lys2413Glu)
|
|
|
NM_000051.4(ATM):c.7238A>G (p.Lys2413Arg)
|
|
|
NM_000051.4(ATM):c.7239G>A (p.Lys2413=)
|
rs1555122182
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
NM_000051.4(ATM):c.7243G>C (p.Ala2415Pro)
|
|
|
NM_000051.4(ATM):c.7245_7268del (p.Leu2416_Glu2423del)
|
|
|
NM_000051.4(ATM):c.7246C>G (p.Leu2416Val)
|
|
|
NM_000051.4(ATM):c.7247T>C (p.Leu2416Pro)
|
|
|
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
|
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7250T>C (p.Leu2417Pro)
|
rs1591151788
|
|
NM_000051.4(ATM):c.7254_7255del (p.Arg2419fs)
|
|
|
NM_000051.4(ATM):c.7257A>G (p.Arg2419=)
|
rs1591151857
|
|
NM_000051.4(ATM):c.7261A>G (p.Lys2421Glu)
|
rs1555122220
|
|
NM_000051.4(ATM):c.7262A>G (p.Lys2421Arg)
|
rs1360453074
|
|
NM_000051.4(ATM):c.7262_7263del (p.Lys2421fs)
|
rs1131691157
|
|
NM_000051.4(ATM):c.7263A>G (p.Lys2421=)
|
rs1555122232
|
|
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)
|
rs758614348
|
|
NM_000051.4(ATM):c.7267G>A (p.Glu2423Lys)
|
rs1555122245
|
|
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp)
|
rs864622471
|
|
NM_000051.4(ATM):c.7270G>A (p.Val2424Ile)
|
|
|
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val)
|
rs148949644
|
|
NM_000051.4(ATM):c.7277_7279delinsCCT (p.Leu2426_Leu2427delinsProPhe)
|
|
|
NM_000051.4(ATM):c.7277del (p.Leu2426fs)
|
|
|
NM_000051.4(ATM):c.7278C>T (p.Leu2426=)
|
rs2136422492
|
|
NM_000051.4(ATM):c.7279C>T (p.Leu2427Phe)
|
|
|
NM_000051.4(ATM):c.7280T>C (p.Leu2427Pro)
|
rs1555122272
|
|
NM_000051.4(ATM):c.7281T>C (p.Leu2427=)
|
rs1239369148
|
|
NM_000051.4(ATM):c.7282A>T (p.Arg2428Trp)
|
rs1555122281
|
|
NM_000051.4(ATM):c.7284G>A (p.Arg2428=)
|
rs1591152279
|
|
NM_000051.4(ATM):c.7284G>T (p.Arg2428Ser)
|
|
|
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)
|
|
|
NM_000051.4(ATM):c.7290T>A (p.His2430Gln)
|
rs876658715
|
|
NM_000051.4(ATM):c.7290T>G (p.His2430Gln)
|
rs876658715
|
|
NM_000051.4(ATM):c.7292A>C (p.Lys2431Thr)
|
|
|
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)
|
rs1060501525
|
|
NM_000051.4(ATM):c.7294A>G (p.Ile2432Val)
|
rs587781838
|
|
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe)
|
rs587781838
|
|
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu)
|
rs1591152450
|
|
NM_000051.4(ATM):c.7299G>A (p.Gln2433=)
|
rs1057520451
|
|
NM_000051.4(ATM):c.7301C>T (p.Thr2434Ile)
|
rs2136423951
|
|
NM_000051.4(ATM):c.7302A>G (p.Thr2434=)
|
rs752125292
|
|
NM_000051.4(ATM):c.7303A>G (p.Asn2435Asp)
|
rs1555122326
|
|
NM_000051.4(ATM):c.7305C>G (p.Asn2435Lys)
|
rs1160508407
|
|
NM_000051.4(ATM):c.7306A>G (p.Arg2436Gly)
|
rs1555122335
|
|
NM_000051.4(ATM):c.7307+18A>G
|
rs777909508
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
NM_000051.4(ATM):c.7307+2_7307+4delinsCC
|
|
|
NM_000051.4(ATM):c.7307+2dup
|
rs2086004268
|
|
NM_000051.4(ATM):c.7307+4A>G
|
rs730881316
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
NM_000051.4(ATM):c.7308-2A>C
|
rs1555122938
|
|
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser)
|
rs730881317
|
|
NM_000051.4(ATM):c.7310A>G (p.Tyr2437Cys)
|
rs1555122944
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=)
|
rs763470424
|
|
NM_000051.4(ATM):c.7312del (p.Thr2438fs)
|
|
|
NM_000051.4(ATM):c.7313C>A (p.Thr2438Lys)
|
rs147604227
|
|
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7315G>A (p.Val2439Ile)
|
|
|
NM_000051.4(ATM):c.7321G>T (p.Val2441Phe)
|
rs876659556
|
|
NM_000051.4(ATM):c.7325A>C (p.Gln2442Pro)
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7328G>T (p.Arg2443Leu)
|
rs587782310
|
|
NM_000051.4(ATM):c.7330G>A (p.Glu2444Lys)
|
rs2136453151
|
|
NM_000051.4(ATM):c.7330G>C (p.Glu2444Gln)
|
|
|
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp)
|
rs876658886
|
|
NM_000051.4(ATM):c.7333del (p.Leu2445fs)
|
rs1591159924
|
|
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln)
|
rs1555122992
|
|
NM_000051.4(ATM):c.7334T>C (p.Leu2445Pro)
|
rs1555122992
|
|
NM_000051.4(ATM):c.7335G>T (p.Leu2445=)
|
|
|
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
|
|
|
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)
|
rs1555122998
|
|
NM_000051.4(ATM):c.7339T>C (p.Leu2447=)
|
rs1591159997
|
|
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val)
|
rs1591159997
|
|
NM_000051.4(ATM):c.7341G>C (p.Leu2447Phe)
|
rs2136453829
|
|
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)
|
rs1591160022
|
|
NM_000051.4(ATM):c.7343A>G (p.Asp2448Gly)
|
rs1275267580
|
|
NM_000051.4(ATM):c.7345G>A (p.Glu2449Lys)
|
|
|
NM_000051.4(ATM):c.7346A>C (p.Glu2449Ala)
|
rs1555123004
|
|
NM_000051.4(ATM):c.7346A>G (p.Glu2449Gly)
|
rs1555123004
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro)
|
rs587779862
|
|
NM_000051.4(ATM):c.7352C>T (p.Ala2451Val)
|
rs2086116043
|
|
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
|
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7355T>G (p.Leu2452Arg)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7356G>A (p.Leu2452=)
|
|
|
NM_000051.4(ATM):c.7359del (p.Ala2454fs)
|
|
|
NM_000051.4(ATM):c.7360G>C (p.Ala2454Pro)
|
rs1565529541
|
|
NM_000051.4(ATM):c.7360_7365del (p.Ala2454_Leu2455del)
|
|
|
NM_000051.4(ATM):c.7362A>T (p.Ala2454=)
|
|
|
NM_000051.4(ATM):c.7364T>A (p.Leu2455Gln)
|
rs1555123056
|
|
NM_000051.4(ATM):c.7364T>C (p.Leu2455Pro)
|
rs1555123056
|
|
NM_000051.4(ATM):c.7365G>A (p.Leu2455=)
|
rs756506590
|
|
NM_000051.4(ATM):c.7365G>C (p.Leu2455=)
|
rs756506590
|
|
NM_000051.4(ATM):c.7368A>G (p.Lys2456=)
|
rs2136455679
|
|
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
|
|
|
NM_000051.4(ATM):c.7369G>T (p.Glu2457Ter)
|
rs1591160295
|
|
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)
|
rs778482902
|
|
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)
|
rs1591160284
|
|
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val)
|
rs879254201
|
|
NM_000051.4(ATM):c.7375C>A (p.Arg2459Ser)
|
rs730881383
|
|
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)
|
rs730881383
|
|
NM_000051.4(ATM):c.7376G>A (p.Arg2459His)
|
rs1064796589
|
|
NM_000051.4(ATM):c.7382G>C (p.Arg2461Pro)
|
rs768461085
|
|
NM_000051.4(ATM):c.7384T>C (p.Phe2462Leu)
|
rs878853543
|
|
NM_000051.4(ATM):c.7384T>G (p.Phe2462Val)
|
rs878853543
|
|
NM_000051.4(ATM):c.7391G>A (p.Cys2464Tyr)
|
rs1555123119
|
|
NM_000051.4(ATM):c.7393A>C (p.Lys2465Gln)
|
|
|
NM_000051.4(ATM):c.7393A>G (p.Lys2465Glu)
|
|
|
NM_000051.4(ATM):c.7395A>G (p.Lys2465=)
|
rs2086122414
|
|
NM_000051.4(ATM):c.7395_7411del (p.Lys2465fs)
|
|
|
NM_000051.4(ATM):c.7397C>T (p.Ala2466Val)
|
|
|
NM_000051.4(ATM):c.7399G>C (p.Val2467Leu)
|
|
|
NM_000051.4(ATM):c.7401T>G (p.Val2467=)
|
rs1565529761
|
|
NM_000051.4(ATM):c.7405A>C (p.Asn2469His)
|
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7409A>G (p.Tyr2470Cys)
|
rs878853544
|
|
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe)
|
rs878853544
|
|
NM_000051.4(ATM):c.7410T>A (p.Tyr2470Ter)
|
|
|
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=)
|
rs1555123144
|
|
NM_000051.4(ATM):c.7411A>G (p.Ile2471Val)
|
rs1565529832
|
|
NM_000051.4(ATM):c.7414A>G (p.Asn2472Asp)
|
rs1591160721
|
|
NM_000051.4(ATM):c.7415A>G (p.Asn2472Ser)
|
rs1565529851
|
|
NM_000051.4(ATM):c.7419C>T (p.Cys2473=)
|
rs1591160758
|
|
NM_000051.4(ATM):c.7422A>G (p.Leu2474=)
|
rs1591160792
|
|
NM_000051.4(ATM):c.7425A>G (p.Leu2475=)
|
rs1555123162
|
|
NM_000051.4(ATM):c.7428T>C (p.Ser2476=)
|
|
|
NM_000051.4(ATM):c.7435G>C (p.Glu2479Gln)
|
rs1060501583
|
|
NM_000051.4(ATM):c.7438C>T (p.His2480Tyr)
|
rs1029740910
|
|
NM_000051.4(ATM):c.7439A>C (p.His2480Pro)
|
|
|
NM_000051.4(ATM):c.7440T>C (p.His2480=)
|
rs2086127721
|
|
NM_000051.4(ATM):c.7443T>C (p.Asp2481=)
|
rs1555123181
|
|
NM_000051.4(ATM):c.7444A>G (p.Met2482Val)
|
rs951373716
|
|
NM_000051.4(ATM):c.7444A>T (p.Met2482Leu)
|
rs951373716
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
NM_000051.4(ATM):c.7446G>A (p.Met2482Ile)
|
rs2136460286
|
|
NM_000051.4(ATM):c.7447T>C (p.Trp2483Arg)
|
rs1591161080
|
|
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile)
|
rs587779864
|
|
NM_000051.4(ATM):c.7450G>T (p.Val2484Leu)
|
rs587779864
|
|
NM_000051.4(ATM):c.7450del (p.Val2484fs)
|
|
|
NM_000051.4(ATM):c.7452dup (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7455_7462del (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7457G>A (p.Arg2486Gln)
|
rs773944604
|
|
NM_000051.4(ATM):c.7458A>T (p.Arg2486=)
|
|
|
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg)
|
rs1555123216
|
|
NM_000051.4(ATM):c.7463G>T (p.Cys2488Phe)
|
rs774281788
|
|
NM_000051.4(ATM):c.7464T>C (p.Cys2488=)
|
rs1555123227
|
|
NM_000051.4(ATM):c.7465T>G (p.Ser2489Ala)
|
|
|
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)
|
rs786203734
|
|
NM_000051.4(ATM):c.7465_7466delinsGT (p.Ser2489Val)
|
|
|
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr)
|
rs759728261
|
|
NM_000051.4(ATM):c.7467C>T (p.Ser2489=)
|
rs767846264
|
|
NM_000051.4(ATM):c.7470C>A (p.Leu2490=)
|
|
|
NM_000051.4(ATM):c.7470C>G (p.Leu2490=)
|
rs1057521604
|
|
NM_000051.4(ATM):c.7473G>T (p.Trp2491Cys)
|
rs1555123257
|
|
NM_000051.4(ATM):c.7474C>G (p.Leu2492Val)
|
|
|
NM_000051.4(ATM):c.7474C>T (p.Leu2492Phe)
|
rs1555123259
|
|
NM_000051.4(ATM):c.7482T>A (p.Asn2494Lys)
|
|
|
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu)
|
rs764478418
|
|
NM_000051.4(ATM):c.7488A>C (p.Gly2496=)
|
|
|
NM_000051.4(ATM):c.7488A>G (p.Gly2496=)
|
|
|
NM_000051.4(ATM):c.7488A>T (p.Gly2496=)
|
|
|
NM_000051.4(ATM):c.7489G>A (p.Val2497Ile)
|
|
|
NM_000051.4(ATM):c.7491T>C (p.Val2497=)
|
rs2086134307
|
|
NM_000051.4(ATM):c.7491_7492dup (p.Ser2498fs)
|
|
|
NM_000051.4(ATM):c.7492del (p.Ser2498fs)
|
rs1591161470
|
|
NM_000051.4(ATM):c.7493C>T (p.Ser2498Phe)
|
|
|
NM_000051.4(ATM):c.7499_7502delinsCCAG (p.Val2500_Asn2501delinsAlaSer)
|
rs1555123310
|
|
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu)
|
rs780931855
|
|
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr)
|
rs1060501644
|
|
NM_000051.4(ATM):c.7515+1G>A
|
rs1591161831
|
|
NM_000051.4(ATM):c.7515+1G>C
|
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
NM_000051.4(ATM):c.7516-1G>C
|
|
|
NM_000051.4(ATM):c.7516-2A>G
|
|
|
NM_000051.4(ATM):c.7516-3T>C
|
|
|
NM_000051.4(ATM):c.7516-4G>T
|
rs876660105
|
|
NM_000051.4(ATM):c.7516-5G>A
|
rs1057520837
|
|
NM_000051.4(ATM):c.7517G>C (p.Arg2506Thr)
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519G>A (p.Asp2507Asn)
|
|
|
NM_000051.4(ATM):c.7519G>C (p.Asp2507His)
|
rs2136491059
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu)
|
rs751234924
|
|
NM_000051.4(ATM):c.7524A>G (p.Gly2508=)
|
|
|
NM_000051.4(ATM):c.7526dup (p.Met2509fs)
|
|
|
NM_000051.4(ATM):c.7527G>C (p.Met2509Ile)
|
|
|
NM_000051.4(ATM):c.7533T>C (p.Ile2511=)
|
rs786201279
|
|
NM_000051.4(ATM):c.7533del (p.Pro2512fs)
|
|
|
NM_000051.4(ATM):c.7534C>A (p.Pro2512Thr)
|
rs1565532052
|
|
NM_000051.4(ATM):c.7536A>G (p.Pro2512=)
|
rs786202802
|
|
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
|
|
|
NM_000051.4(ATM):c.7540T>C (p.Tyr2514His)
|
rs1555123985
|
|
NM_000051.4(ATM):c.7541A>G (p.Tyr2514Cys)
|
rs1555123994
|
|
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe)
|
rs1555123994
|
|
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter)
|
rs777925486
|
|
NM_000051.4(ATM):c.7543A>G (p.Lys2515Glu)
|
rs1555124004
|
|
NM_000051.4(ATM):c.7544A>C (p.Lys2515Thr)
|
rs1591167340
|
|
NM_000051.4(ATM):c.7549T>C (p.Leu2517=)
|
|
|
NM_000051.4(ATM):c.7551G>T (p.Leu2517Phe)
|
|
|
NM_000051.4(ATM):c.7555C>G (p.Leu2519Val)
|
rs1555124019
|
|
NM_000051.4(ATM):c.7557dup (p.Met2520fs)
|
rs2136493530
|
|
NM_000051.4(ATM):c.7558A>C (p.Met2520Leu)
|
rs1591167508
|
|
NM_000051.4(ATM):c.7558A>G (p.Met2520Val)
|
|
|
NM_000051.4(ATM):c.7558A>T (p.Met2520Leu)
|
rs1591167508
|
|
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile)
|
rs1591167543
|
|
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys)
|
rs876660422
|
|
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
|
|
|
NM_000051.4(ATM):c.7565A>G (p.Gln2522Arg)
|
rs1555124039
|
|
NM_000051.4(ATM):c.7566A>T (p.Gln2522His)
|
rs775621333
|
|
NM_000051.4(ATM):c.7567T>C (p.Leu2523=)
|
rs1565532289
|
|
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr)
|
rs769142993
|
|
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)
|
rs769142993
|
|
NM_000051.4(ATM):c.7571C>T (p.Ala2524Val)
|
rs876660663
|
|
NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe)
|
rs1555124054
|
|
NM_000051.4(ATM):c.7576A>G (p.Arg2526Gly)
|
rs1591167721
|
|
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys)
|
rs876659323
|
|
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr)
|
rs876659323
|
|
NM_000051.4(ATM):c.7580T>A (p.Met2527Lys)
|
rs1555124065
|
|
NM_000051.4(ATM):c.7584G>T (p.Gly2528=)
|
|
|
NM_000051.4(ATM):c.7590G>T (p.Lys2530Asn)
|
|
|
NM_000051.4(ATM):c.7593G>T (p.Met2531Ile)
|
rs786203764
|
|
NM_000051.4(ATM):c.7594A>G (p.Met2532Val)
|
rs2136496697
|
|
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile)
|
rs587781854
|
|
NM_000051.4(ATM):c.7597G>A (p.Gly2533Arg)
|
|
|
NM_000051.4(ATM):c.7599_7600dup (p.Gly2534fs)
|
rs1555124089
|
|
NM_000051.4(ATM):c.7600G>A (p.Gly2534Ser)
|
rs1555124094
|
|
NM_000051.4(ATM):c.7603C>T (p.Leu2535=)
|
rs1555124111
|
|
NM_000051.4(ATM):c.7605A>G (p.Leu2535=)
|
rs1591167954
|
|
NM_000051.4(ATM):c.7615G>A (p.Glu2539Lys)
|
rs876658496
|
|
NM_000051.4(ATM):c.7617A>C (p.Glu2539Asp)
|
rs1591168001
|
|
NM_000051.4(ATM):c.7621C>T (p.Leu2541Phe)
|
rs1565532615
|
|
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg)
|
rs876658933
|
|
NM_000051.4(ATM):c.7623C>T (p.Leu2541=)
|
rs2086235791
|
|
NM_000051.4(ATM):c.7625A>G (p.Asn2542Ser)
|
rs2086236181
|
|
NM_000051.4(ATM):c.7626T>A (p.Asn2542Lys)
|
rs1555124134
|
|
NM_000051.4(ATM):c.7627A>G (p.Asn2543Asp)
|
rs1591168132
|
|
NM_000051.4(ATM):c.7628A>G (p.Asn2543Ser)
|
rs1591168151
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
NM_000051.4(ATM):c.7629+1G>T
|
|
|
NM_000051.4(ATM):c.7629+3A>C
|
rs752251778
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-12_7630-11del
|
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630-1G>C
|
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
NM_000051.4(ATM):c.7630-3_7630-2del
|
rs587782250
|
|
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val)
|
rs1555124455
|
|
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro)
|
rs1555124459
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7640G>A (p.Arg2547Lys)
|
|
|
NM_000051.4(ATM):c.7644T>C (p.Ile2548=)
|
|
|
NM_000051.4(ATM):c.7645T>C (p.Ser2549Pro)
|
|
|
NM_000051.4(ATM):c.7646C>A (p.Ser2549Ter)
|
|
|
NM_000051.4(ATM):c.7647A>T (p.Ser2549=)
|
rs1591171175
|
|
NM_000051.4(ATM):c.7648A>C (p.Met2550Leu)
|
rs878853545
|
|
NM_000051.4(ATM):c.7649T>C (p.Met2550Thr)
|
|
|
NM_000051.4(ATM):c.7651G>C (p.Asp2551His)
|
|
|
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly)
|
rs1565533613
|
|
NM_000051.4(ATM):c.7654C>A (p.His2552Asn)
|
rs786202174
|
|
NM_000051.4(ATM):c.7654C>T (p.His2552Tyr)
|
rs786202174
|
|
NM_000051.4(ATM):c.7655A>G (p.His2552Arg)
|
|
|
NM_000051.4(ATM):c.7657C>A (p.Pro2553Thr)
|
rs1555124475
|
|
NM_000051.4(ATM):c.7657C>G (p.Pro2553Ala)
|
|
|
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu)
|
rs864622368
|
|
NM_000051.4(ATM):c.7659C>T (p.Pro2553=)
|
rs1591171386
|
|
NM_000051.4(ATM):c.7661A>T (p.His2554Leu)
|
rs1555124487
|
|
NM_000051.4(ATM):c.7663C>A (p.His2555Asn)
|
rs786203651
|
|
NM_000051.4(ATM):c.7663C>T (p.His2555Tyr)
|
rs786203651
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
NM_000051.4(ATM):c.7667C>A (p.Thr2556Asn)
|
rs1226186392
|
|
NM_000051.4(ATM):c.7668T>G (p.Thr2556=)
|
rs1591171572
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7674TAT[1] (p.Ile2560del)
|
rs1591171617
|
|
NM_000051.4(ATM):c.7675_7676del (p.Ile2559fs)
|
|
|
NM_000051.4(ATM):c.7681C>T (p.Leu2561=)
|
rs1060504314
|
|
NM_000051.4(ATM):c.7683G>A (p.Leu2561=)
|
|
|
NM_000051.4(ATM):c.7683G>T (p.Leu2561=)
|
|
|
NM_000051.4(ATM):c.7684G>A (p.Ala2562Thr)
|
rs1555124521
|
|
NM_000051.4(ATM):c.7684G>T (p.Ala2562Ser)
|
rs1555124521
|
|
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp)
|
rs1322308382
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr)
|
rs1060501604
|
|
NM_000051.4(ATM):c.7697C>G (p.Ala2566Gly)
|
rs2086297257
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7701C>T (p.Asn2567=)
|
rs786201637
|
|
NM_000051.4(ATM):c.7703G>T (p.Arg2568Ile)
|
|
|
NM_000051.4(ATM):c.7704A>G (p.Arg2568=)
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly)
|
rs1555124575
|
|
NM_000051.4(ATM):c.7707T>G (p.Asp2569Glu)
|
|
|
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
NM_000051.4(ATM):c.7709A>G (p.Glu2570Gly)
|
|
|
NM_000051.4(ATM):c.7710A>G (p.Glu2570=)
|
rs760215505
|
|
NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)
|
|
|
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser)
|
rs1555124612
|
|
NM_000051.4(ATM):c.7714C>T (p.Leu2572=)
|
rs1472587727
|
|
NM_000051.4(ATM):c.7717A>G (p.Thr2573Ala)
|
rs1591172139
|
|
NM_000051.4(ATM):c.7719T>C (p.Thr2573=)
|
|
|
NM_000051.4(ATM):c.7721A>C (p.Lys2574Thr)
|
|
|
NM_000051.4(ATM):c.7722A>G (p.Lys2574=)
|
|
|
NM_000051.4(ATM):c.7724C>A (p.Pro2575Gln)
|
rs1591172186
|
|
NM_000051.4(ATM):c.7724C>T (p.Pro2575Leu)
|
|
|
NM_000051.4(ATM):c.7725A>G (p.Pro2575=)
|
rs876658509
|
|
NM_000051.4(ATM):c.7731A>G (p.Val2577=)
|
rs2136524528
|
|
NM_000051.4(ATM):c.7732G>C (p.Ala2578Pro)
|
rs1555124632
|
|
NM_000051.4(ATM):c.7734C>T (p.Ala2578=)
|
rs753442840
|
|
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr)
|
rs879254206
|
|
NM_000051.4(ATM):c.7737A>G (p.Arg2579=)
|
rs1591172338
|
|
NM_000051.4(ATM):c.7740A>G (p.Arg2580=)
|
|
|
NM_000051.4(ATM):c.7743C>G (p.Ser2581Arg)
|
|
|
NM_000051.4(ATM):c.7743C>T (p.Ser2581=)
|
|
|
NM_000051.4(ATM):c.7744A>T (p.Arg2582Ter)
|
rs750224234
|
|
NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)
|
|
|
NM_000051.4(ATM):c.7751C>T (p.Thr2584Ile)
|
|
|
NM_000051.4(ATM):c.7758T>C (p.Asn2586=)
|
rs2136526693
|
|
NM_000051.4(ATM):c.7759G>A (p.Val2587Met)
|
rs1285491916
|
|
NM_000051.4(ATM):c.7761G>A (p.Val2587=)
|
|
|
NM_000051.4(ATM):c.7764T>A (p.Pro2588=)
|
rs1591172609
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7765A>G (p.Lys2589Glu)
|
rs876659557
|
|
NM_000051.4(ATM):c.7766A>G (p.Lys2589Arg)
|
rs878853546
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
NM_000051.4(ATM):c.7768C>G (p.Gln2590Glu)
|
rs876659561
|
|
NM_000051.4(ATM):c.7769A>G (p.Gln2590Arg)
|
rs1555124706
|
|
NM_000051.4(ATM):c.7770A>G (p.Gln2590=)
|
rs864622437
|
|
NM_000051.4(ATM):c.7772G>A (p.Ser2591Asn)
|
rs730881319
|
|
NM_000051.4(ATM):c.7773C>T (p.Ser2591=)
|
rs1045232065
|
|
NM_000051.4(ATM):c.7774T>C (p.Ser2592Pro)
|
rs786202025
|
|
NM_000051.4(ATM):c.7782T>A (p.Leu2594=)
|
rs905474729
|
|
NM_000051.4(ATM):c.7785T>C (p.Asp2595=)
|
rs34838175
|
|
NM_000051.4(ATM):c.7786G>A (p.Glu2596Lys)
|
rs1555124747
|
|
NM_000051.4(ATM):c.7788+1G>C
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788+1G>T
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-1G>A
|
rs1591177953
|
|
NM_000051.4(ATM):c.7789-29_7789-16del
|
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7789-4A>C
|
|
|
NM_000051.4(ATM):c.7789-4A>G
|
rs2086401774
|
|
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)
|
rs1555125212
|
|
NM_000051.4(ATM):c.7792C>A (p.Arg2598=)
|
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
|
|
|
NM_000051.4(ATM):c.7794A>C (p.Arg2598=)
|
rs1555125220
|
|
NM_000051.4(ATM):c.7796C>T (p.Thr2599Ile)
|
rs2086404569
|
|
NM_000051.4(ATM):c.7800G>A (p.Glu2600=)
|
rs1591178097
|
|
NM_000051.4(ATM):c.7803T>A (p.Ala2601=)
|
|
|
NM_000051.4(ATM):c.7804G>A (p.Ala2602Thr)
|
rs1555125227
|
|
NM_000051.4(ATM):c.7805C>G (p.Ala2602Gly)
|
|
|
NM_000051.4(ATM):c.7807A>G (p.Asn2603Asp)
|
rs1591178124
|
|
NM_000051.4(ATM):c.7809T>C (p.Asn2603=)
|
rs2136562134
|
|
NM_000051.4(ATM):c.7811G>C (p.Arg2604Thr)
|
|
|
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser)
|
rs1484346818
|
|
NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del)
|
rs786203830
|
|
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met)
|
rs1027959208
|
|
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)
|
rs1459650575
|
|
NM_000051.4(ATM):c.7825A>G (p.Ile2609Val)
|
rs779400418
|
|
NM_000051.4(ATM):c.7826T>A (p.Ile2609Asn)
|
|
|
NM_000051.4(ATM):c.7826T>C (p.Ile2609Thr)
|
rs369846067
|
|
NM_000051.4(ATM):c.7827C>T (p.Ile2609=)
|
rs768423205
|
|
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs)
|
rs1591178362
|
|
NM_000051.4(ATM):c.7834A>C (p.Arg2612=)
|
rs1305691166
|
|
NM_000051.4(ATM):c.7834A>G (p.Arg2612Gly)
|
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
NM_000051.4(ATM):c.7836G>A (p.Arg2612=)
|
rs761324887
|
|
NM_000051.4(ATM):c.7838G>A (p.Arg2613Lys)
|
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser)
|
rs1555125305
|
|
NM_000051.4(ATM):c.7841C>A (p.Pro2614His)
|
rs769207177
|
|
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu)
|
rs769207177
|
|
NM_000051.4(ATM):c.7842T>C (p.Pro2614=)
|
|
|
NM_000051.4(ATM):c.7842T>G (p.Pro2614=)
|
rs876660827
|
|
NM_000051.4(ATM):c.7846A>G (p.Met2616Val)
|
rs876658208
|
|
NM_000051.4(ATM):c.7851C>G (p.Val2617=)
|
|
|
NM_000051.4(ATM):c.7852A>C (p.Arg2618=)
|
rs1057521185
|
|
NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly)
|
rs1057521185
|
|
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly)
|
rs2086416652
|
|
NM_000051.4(ATM):c.7857T>C (p.Ser2619=)
|
rs1555125339
|
|
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)
|
rs1427723678
|
|
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe)
|
rs1427723678
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7859T>C (p.Val2620Ala)
|
|
|
NM_000051.4(ATM):c.7861G>C (p.Glu2621Gln)
|
rs1555125355
|
|
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)
|
rs766351395
|
|
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile)
|
rs774118570
|
|
NM_000051.4(ATM):c.7867C>G (p.Leu2623Val)
|
rs774118570
|
|
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)
|
rs774118570
|
|
NM_000051.4(ATM):c.7868T>A (p.Leu2623His)
|
rs1591178731
|
|
NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly)
|
rs1591178767
|
|
NM_000051.4(ATM):c.7873G>C (p.Asp2625His)
|
rs1272613396
|
|
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala)
|
rs876660121
|
|
NM_000051.4(ATM):c.7874A>T (p.Asp2625Val)
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val)
|
rs1555125394
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=)
|
rs2086423868
|
|
NM_000051.4(ATM):c.7882A>C (p.Ile2628Leu)
|
rs587781370
|
|
NM_000051.4(ATM):c.7882A>G (p.Ile2628Val)
|
rs587781370
|
|
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val)
|
rs2136569929
|
|
NM_000051.4(ATM):c.7886T>C (p.Ile2629Thr)
|
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met)
|
rs752886000
|
|
NM_000051.4(ATM):c.7888T>A (p.Leu2630Ile)
|
rs1555125427
|
|
NM_000051.4(ATM):c.7891G>C (p.Ala2631Pro)
|
|
|
NM_000051.4(ATM):c.7896C>G (p.Asn2632Lys)
|
rs1591179036
|
|
NM_000051.4(ATM):c.7896C>T (p.Asn2632=)
|
rs1591179036
|
|
NM_000051.4(ATM):c.7901A>T (p.Asp2634Val)
|
rs876660909
|
|
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)
|
rs754002355
|
|
NM_000051.4(ATM):c.7904C>T (p.Ala2635Val)
|
rs754002355
|
|
NM_000051.4(ATM):c.7908T>C (p.Thr2636=)
|
|
|
NM_000051.4(ATM):c.7910A>G (p.Gln2637Arg)
|
rs1555125476
|
|
NM_000051.4(ATM):c.7914_7915insT (p.Lys2639Ter)
|
rs1591179199
|
|
NM_000051.4(ATM):c.7919C>G (p.Thr2640Ser)
|
rs4988125
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
|
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
NM_000051.4(ATM):c.7927+1G>A
|
rs1555125532
|
|
NM_000051.4(ATM):c.7927+3A>C
|
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
NM_000051.4(ATM):c.7927+5G>C
|
rs1299306446
|
|
NM_000051.4(ATM):c.7927+5del
|
rs786204437
|
|
NM_000051.4(ATM):c.7927A>G (p.Lys2643Glu)
|
rs587782487
|
|
NM_000051.4(ATM):c.7928-1G>A
|
rs1555126163
|
|
NM_000051.4(ATM):c.7928-2A>G
|
rs864622610
|
|
NM_000051.4(ATM):c.7928-2A>T
|
rs864622610
|
|
NM_000051.4(ATM):c.7928-3C>T
|
rs1555126153
|
|
NM_000051.4(ATM):c.7928-4A>C
|
rs876658629
|
|
NM_000051.4(ATM):c.7928-4A>G
|
rs876658629
|
|
NM_000051.4(ATM):c.7928-5T>C
|
rs1591183992
|
|
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser)
|
rs587781897
|
|
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg)
|
rs587781897
|
|
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val)
|
rs937831636
|
|
NM_000051.4(ATM):c.7935A>G (p.Ile2645Met)
|
rs1591184158
|
|
NM_000051.4(ATM):c.7940T>C (p.Ile2647Thr)
|
|
|
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr)
|
rs878853547
|
|
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
|
|
|
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)
|
rs786202219
|
|
NM_000051.4(ATM):c.7950C>A (p.Asp2650Glu)
|
rs1060504298
|
|
NM_000051.4(ATM):c.7950C>T (p.Asp2650=)
|
rs1060504298
|
|
NM_000051.4(ATM):c.7951C>A (p.Gln2651Lys)
|
rs587781994
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7957_7960dup (p.Thr2654fs)
|
|
|
NM_000051.4(ATM):c.7958T>C (p.Ile2653Thr)
|
|
|
NM_000051.4(ATM):c.7958_7960del (p.Ile2653del)
|
rs1555126226
|
|
NM_000051.4(ATM):c.7959T>C (p.Ile2653=)
|
rs2136613483
|
|
NM_000051.4(ATM):c.7960A>G (p.Thr2654Ala)
|
rs2136613550
|
|
NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser)
|
rs786203621
|
|
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile)
|
rs786203621
|
|
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val)
|
rs1591184384
|
|
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe)
|
rs1591184384
|
|
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
|
|
|
NM_000051.4(ATM):c.7968T>C (p.Leu2656=)
|
rs1591184410
|
|
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)
|
|
|
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser)
|
rs1565538536
|
|
NM_000051.4(ATM):c.7977A>G (p.Leu2659=)
|
rs2136615106
|
|
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del)
|
rs2086551461
|
|
NM_000051.4(ATM):c.7978G>C (p.Glu2660Gln)
|
|
|
NM_000051.4(ATM):c.7978G>T (p.Glu2660Ter)
|
|
|
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp)
|
rs1555126247
|
|
NM_000051.4(ATM):c.7982A>T (p.Asp2661Val)
|
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7989T>G (p.Val2663=)
|
|
|
NM_000051.4(ATM):c.7991T>C (p.Val2664Ala)
|
|
|
NM_000051.4(ATM):c.7995T>A (p.Pro2665=)
|
rs1591184714
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu)
|
rs34099398
|
|
NM_000051.4(ATM):c.8007T>G (p.Ile2669Met)
|
|
|
NM_000051.4(ATM):c.8008A>C (p.Lys2670Gln)
|
|
|
NM_000051.4(ATM):c.8008A>T (p.Lys2670Ter)
|
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.8010+5T>C
|
rs56256497
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn)
|
|
|
NM_000051.4(ATM):c.8011-1G>C
|
rs1555127017
|
|
NM_000051.4(ATM):c.8011-21_8015del
|
|
|
NM_000051.4(ATM):c.8011-4T>C
|
|
|
NM_000051.4(ATM):c.8011-5A>G
|
|
|
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr)
|
rs1555127024
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
NM_000051.4(ATM):c.8016C>T (p.Asp2672=)
|
rs1591191019
|
|
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr)
|
rs1555127035
|
|
NM_000051.4(ATM):c.8021C>T (p.Thr2674Ile)
|
|
|
NM_000051.4(ATM):c.8022A>G (p.Thr2674=)
|
|
|
NM_000051.4(ATM):c.8025A>G (p.Gly2675=)
|
rs1591191102
|
|
NM_000051.4(ATM):c.8026G>T (p.Glu2676Ter)
|
|
|
NM_000051.4(ATM):c.8027A>C (p.Glu2676Ala)
|
|
|
NM_000051.4(ATM):c.8028A>G (p.Glu2676=)
|
rs1389648050
|
|
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)
|
rs28942103
|
|
NM_000051.4(ATM):c.8031T>C (p.Tyr2677=)
|
|
|
NM_000051.4(ATM):c.8033G>A (p.Gly2678Glu)
|
|
|
NM_000051.4(ATM):c.8036A>G (p.Asn2679Ser)
|
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8041G>A (p.Val2681Met)
|
rs1064795034
|
|
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu)
|
rs1064795034
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
NM_000051.4(ATM):c.8044A>C (p.Thr2682Pro)
|
rs730881320
|
|
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala)
|
rs730881320
|
|
NM_000051.4(ATM):c.8045C>T (p.Thr2682Ile)
|
|
|
NM_000051.4(ATM):c.8046T>C (p.Thr2682=)
|
rs876660435
|
|
NM_000051.4(ATM):c.8046T>G (p.Thr2682=)
|
|
|
NM_000051.4(ATM):c.8047A>T (p.Ile2683Leu)
|
rs587781344
|
|
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr)
|
rs1555127096
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8051A>C (p.Gln2684Pro)
|
|
|
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg)
|
rs1555127107
|
|
NM_000051.4(ATM):c.8051dup (p.Ser2685fs)
|
rs1591191449
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu)
|
rs1555127125
|
|
NM_000051.4(ATM):c.8057T>C (p.Phe2686Ser)
|
|
|
NM_000051.4(ATM):c.8061A>C (p.Lys2687Asn)
|
|
|
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly)
|
rs759779781
|
|
NM_000051.4(ATM):c.8071C>G (p.Arg2691Gly)
|
rs531980488
|
|
NM_000051.4(ATM):c.8072G>C (p.Arg2691Pro)
|
rs876658385
|
|
NM_000051.4(ATM):c.8076A>G (p.Leu2692=)
|
|
|
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del)
|
rs1565540828
|
|
NM_000051.4(ATM):c.8080G>A (p.Gly2694Arg)
|
rs1555127157
|
|
NM_000051.4(ATM):c.8081G>A (p.Gly2694Glu)
|
|
|
NM_000051.4(ATM):c.8081G>C (p.Gly2694Ala)
|
rs2086679689
|
|
NM_000051.4(ATM):c.8081del (p.Gly2694fs)
|
|
|
NM_000051.4(ATM):c.8082A>C (p.Gly2694=)
|
rs540266635
|
|
NM_000051.4(ATM):c.8082A>G (p.Gly2694=)
|
|
|
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser)
|
rs1555127166
|
|
NM_000051.4(ATM):c.8083G>C (p.Gly2695Arg)
|
rs1555127166
|
|
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys)
|
rs1555127166
|
|
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp)
|
rs1060501680
|
|
NM_000051.4(ATM):c.8084G>T (p.Gly2695Val)
|
rs1060501680
|
|
NM_000051.4(ATM):c.8087T>C (p.Val2696Ala)
|
rs1591191762
|
|
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp)
|
rs1555127177
|
|
NM_000051.4(ATM):c.8090A>G (p.Asn2697Ser)
|
rs2136660129
|
|
NM_000051.4(ATM):c.8091T>A (p.Asn2697Lys)
|
|
|
NM_000051.4(ATM):c.8091T>C (p.Asn2697=)
|
rs756887364
|
|
NM_000051.4(ATM):c.8092T>C (p.Leu2698=)
|
|
|
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)
|
rs786203569
|
|
NM_000051.4(ATM):c.8095C>T (p.Pro2699Ser)
|
rs2086682194
|
|
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg)
|
rs879254209
|
|
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu)
|
rs879254209
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8099A>C (p.Lys2700Thr)
|
|
|
NM_000051.4(ATM):c.8101ATA[1] (p.Ile2702del)
|
rs1591191917
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr)
|
rs876659735
|
|
NM_000051.4(ATM):c.8110T>C (p.Cys2704Arg)
|
rs1591192055
|
|
NM_000051.4(ATM):c.8110T>G (p.Cys2704Gly)
|
|
|
NM_000051.4(ATM):c.8111G>T (p.Cys2704Phe)
|
|
|
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)
|
rs587779870
|
|
NM_000051.4(ATM):c.8116G>A (p.Gly2706Ser)
|
|
|
NM_000051.4(ATM):c.8118T>C (p.Gly2706=)
|
rs1057520990
|
|
NM_000051.4(ATM):c.8121C>A (p.Ser2707=)
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8122G>C (p.Asp2708His)
|
rs587782719
|
|
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr)
|
rs587782719
|
|
NM_000051.4(ATM):c.8123del (p.Asp2708fs)
|
|
|
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)
|
rs587781990
|
|
NM_000051.4(ATM):c.8124T>C (p.Asp2708=)
|
rs587781990
|
|
NM_000051.4(ATM):c.8125G>A (p.Gly2709Ser)
|
rs3218680
|
|
NM_000051.4(ATM):c.8125G>T (p.Gly2709Cys)
|
rs3218680
|
|
NM_000051.4(ATM):c.8127C>T (p.Gly2709=)
|
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
|
|
|
NM_000051.4(ATM):c.8130G>T (p.Lys2710Asn)
|
|
|
NM_000051.4(ATM):c.8135G>A (p.Arg2712Lys)
|
rs1591192346
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
NM_000051.4(ATM):c.8136G>A (p.Arg2712=)
|
rs2086690149
|
|
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys)
|
rs876659351
|
|
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr)
|
rs876659351
|
|
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe)
|
rs1591192429
|
|
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe)
|
rs730881385
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
NM_000051.4(ATM):c.8150A>C (p.Lys2717Thr)
|
rs1555127353
|
|
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)
|
rs1555127353
|
|
NM_000051.4(ATM):c.8151+1G>C
|
rs1591192583
|
|
NM_000051.4(ATM):c.8151+3G>A
|
rs760065522
|
|
NM_000051.4(ATM):c.8151+4A>T
|
rs1294982909
|
|
NM_000051.4(ATM):c.8151+5G>A
|
rs1555127370
|
|
NM_000051.4(ATM):c.8151+5G>C
|
rs1555127370
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
NM_000051.4(ATM):c.8152-18T>G
|
rs1591197705
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-3A>G
|
|
|
NM_000051.4(ATM):c.8152G>C (p.Gly2718Arg)
|
rs1060501689
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
NM_000051.4(ATM):c.8156G>C (p.Arg2719Pro)
|
|
|
NM_000051.4(ATM):c.8158G>A (p.Asp2720Asn)
|
rs876659942
|
|
NM_000051.4(ATM):c.8159A>G (p.Asp2720Gly)
|
rs745901025
|
|
NM_000051.4(ATM):c.8159A>T (p.Asp2720Val)
|
|
|
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn)
|
rs876659066
|
|
NM_000051.4(ATM):c.8161G>C (p.Asp2721His)
|
rs876659066
|
|
NM_000051.4(ATM):c.8162A>G (p.Asp2721Gly)
|
rs1555128280
|
|
NM_000051.4(ATM):c.8163C>T (p.Asp2721=)
|
|
|
NM_000051.4(ATM):c.8164C>A (p.Leu2722Met)
|
|
|
NM_000051.4(ATM):c.8164C>G (p.Leu2722Val)
|
rs587782399
|
|
NM_000051.4(ATM):c.8170C>A (p.Gln2724Lys)
|
rs2086784990
|
|
NM_000051.4(ATM):c.8171A>G (p.Gln2724Arg)
|
rs1565543300
|
|
NM_000051.4(ATM):c.8174A>G (p.Asp2725Gly)
|
rs1555128314
|
|
NM_000051.4(ATM):c.8175T>G (p.Asp2725Glu)
|
rs1431188311
|
|
NM_000051.4(ATM):c.8177C>T (p.Ala2726Val)
|
|
|
NM_000051.4(ATM):c.8178del (p.Val2727fs)
|
|
|
NM_000051.4(ATM):c.8179G>T (p.Val2727Phe)
|
|
|
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala)
|
rs1565543359
|
|
NM_000051.4(ATM):c.8181C>T (p.Val2727=)
|
rs2136693653
|
|
NM_000051.4(ATM):c.8185C>G (p.Gln2729Glu)
|
rs587781967
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8186A>C (p.Gln2729Pro)
|
rs1555128350
|
|
NM_000051.4(ATM):c.8187A>G (p.Gln2729=)
|
rs587781946
|
|
NM_000051.4(ATM):c.8187A>T (p.Gln2729His)
|
rs587781946
|
|
NM_000051.4(ATM):c.8188C>A (p.Gln2730Lys)
|
rs587782317
|
|
NM_000051.4(ATM):c.8190G>C (p.Gln2730His)
|
rs2086788941
|
|
NM_000051.4(ATM):c.8192T>C (p.Val2731Ala)
|
rs2086789387
|
|
NM_000051.4(ATM):c.8192T>G (p.Val2731Gly)
|
rs2086789387
|
|
NM_000051.4(ATM):c.8193C>A (p.Val2731=)
|
rs1060504307
|
|
NM_000051.4(ATM):c.8194T>C (p.Phe2732Leu)
|
rs876659619
|
|
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val)
|
rs876659619
|
|
NM_000051.4(ATM):c.8196C>A (p.Phe2732Leu)
|
rs1183442138
|
|
NM_000051.4(ATM):c.8200A>T (p.Met2734Leu)
|
|
|
NM_000051.4(ATM):c.8202dup (p.Cys2735fs)
|
rs2136695766
|
|
NM_000051.4(ATM):c.8203T>C (p.Cys2735Arg)
|
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8206A>G (p.Asn2736Asp)
|
rs1060501577
|
|
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)
|
rs587782525
|
|
NM_000051.4(ATM):c.8211A>C (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8211A>G (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8214A>G (p.Leu2738=)
|
|
|
NM_000051.4(ATM):c.8217G>T (p.Leu2739=)
|
rs759069006
|
|
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)
|
rs866402530
|
|
NM_000051.4(ATM):c.8220G>C (p.Gln2740His)
|
|
|
NM_000051.4(ATM):c.8221A>G (p.Arg2741Gly)
|
rs1591198932
|
|
NM_000051.4(ATM):c.8224A>C (p.Asn2742His)
|
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8226C>T (p.Asn2742=)
|
rs2136697809
|
|
NM_000051.4(ATM):c.8228C>G (p.Thr2743Arg)
|
rs730881321
|
|
NM_000051.4(ATM):c.8234C>G (p.Thr2745Ser)
|
|
|
NM_000051.4(ATM):c.8234C>T (p.Thr2745Ile)
|
rs786203094
|
|
NM_000051.4(ATM):c.8238G>A (p.Arg2746=)
|
rs1591199080
|
|
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg)
|
rs1038749014
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8242A>T (p.Arg2748Trp)
|
|
|
NM_000051.4(ATM):c.8244G>A (p.Arg2748=)
|
rs1591199166
|
|
NM_000051.4(ATM):c.8248T>A (p.Leu2750Ile)
|
rs876658559
|
|
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)
|
rs771146489
|
|
NM_000051.4(ATM):c.8249T>C (p.Leu2750Ser)
|
|
|
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
|
|
|
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)
|
rs1565543844
|
|
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)
|
rs786202120
|
|
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)
|
rs2086800136
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8254A>C (p.Ile2752Leu)
|
|
|
NM_000051.4(ATM):c.8256C>T (p.Ile2752=)
|
|
|
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe)
|
rs1284049490
|
|
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala)
|
rs587781414
|
|
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser)
|
rs1591199410
|
|
NM_000051.4(ATM):c.8264A>G (p.Tyr2755Cys)
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8266A>C (p.Lys2756Gln)
|
rs371638537
|
|
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)
|
rs1555128635
|
|
NM_000051.4(ATM):c.8267del (p.Lys2756fs)
|
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+5C>A
|
|
|
NM_000051.4(ATM):c.8268+5C>T
|
rs1565544035
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8269-14A>G
|
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
NM_000051.4(ATM):c.8269-2A>G
|
|
|
NM_000051.4(ATM):c.8269-5T>G
|
rs1555135331
|
|
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly)
|
rs201216427
|
|
NM_000051.4(ATM):c.8271G>A (p.Val2757=)
|
|
|
NM_000051.4(ATM):c.8271G>C (p.Val2757=)
|
|
|
NM_000051.4(ATM):c.8272G>T (p.Val2758Phe)
|
rs1555135373
|
|
NM_000051.4(ATM):c.8275C>G (p.Pro2759Ala)
|
rs764906663
|
|
NM_000051.4(ATM):c.8276C>A (p.Pro2759His)
|
rs2087807752
|
|
NM_000051.4(ATM):c.8277C>T (p.Pro2759=)
|
rs878853548
|
|
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe)
|
rs758609900
|
|
NM_000051.4(ATM):c.8283T>A (p.Ser2761=)
|
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)
|
rs751574257
|
|
NM_000051.4(ATM):c.8287C>A (p.Arg2763=)
|
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.8289A>C (p.Arg2763=)
|
|
|
NM_000051.4(ATM):c.8292T>C (p.Ser2764=)
|
rs781690523
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp)
|
rs1565557835
|
|
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val)
|
rs1565557835
|
|
NM_000051.4(ATM):c.8295T>G (p.Gly2765=)
|
|
|
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile)
|
rs730881322
|
|
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe)
|
rs786203975
|
|
NM_000051.4(ATM):c.8302G>A (p.Glu2768Lys)
|
rs1555135513
|
|
NM_000051.4(ATM):c.8303A>T (p.Glu2768Val)
|
rs2136943134
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
NM_000051.4(ATM):c.8308T>C (p.Cys2770Arg)
|
rs749737164
|
|
NM_000051.4(ATM):c.8308T>G (p.Cys2770Gly)
|
rs749737164
|
|
NM_000051.4(ATM):c.8309G>T (p.Cys2770Phe)
|
rs2087816795
|
|
NM_000051.4(ATM):c.8309_8310delinsTT (p.Cys2770Phe)
|
|
|
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala)
|
rs876660587
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
NM_000051.4(ATM):c.8315G>C (p.Gly2772Ala)
|
rs775293524
|
|
NM_000051.4(ATM):c.8318C>A (p.Thr2773Asn)
|
rs786203321
|
|
NM_000051.4(ATM):c.8318C>T (p.Thr2773Ile)
|
rs786203321
|
|
NM_000051.4(ATM):c.8319T>C (p.Thr2773=)
|
rs1591248170
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
NM_000051.4(ATM):c.8324C>A (p.Pro2775His)
|
rs1591248275
|
|
NM_000051.4(ATM):c.8324C>T (p.Pro2775Leu)
|
rs1591248275
|
|
NM_000051.4(ATM):c.8325C>T (p.Pro2775=)
|
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
NM_000051.4(ATM):c.8327T>A (p.Ile2776Asn)
|
rs746475628
|
|
NM_000051.4(ATM):c.8328_8329del (p.Ile2776fs)
|
rs1555135633
|
|
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val)
|
rs879254240
|
|
NM_000051.4(ATM):c.8332G>A (p.Glu2778Lys)
|
|
|
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala)
|
rs876659792
|
|
NM_000051.4(ATM):c.8334A>G (p.Glu2778=)
|
|
|
NM_000051.4(ATM):c.8336T>A (p.Phe2779Tyr)
|
rs876660461
|
|
NM_000051.4(ATM):c.8337T>A (p.Phe2779Leu)
|
|
|
NM_000051.4(ATM):c.8337T>C (p.Phe2779=)
|
rs1591248432
|
|
NM_000051.4(ATM):c.8338C>A (p.Leu2780Ile)
|
|
|
NM_000051.4(ATM):c.8339T>G (p.Leu2780Arg)
|
|
|
NM_000051.4(ATM):c.8341_8343del (p.Val2781del)
|
rs1178661659
|
|
NM_000051.4(ATM):c.8342T>G (p.Val2781Gly)
|
|
|
NM_000051.4(ATM):c.8346C>T (p.Asn2782=)
|
rs999357615
|
|
NM_000051.4(ATM):c.8348A>G (p.Asn2783Ser)
|
rs2087826921
|
|
NM_000051.4(ATM):c.8349T>C (p.Asn2783=)
|
rs1555135681
|
|
NM_000051.4(ATM):c.8350G>T (p.Glu2784Ter)
|
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
|
|
|
NM_000051.4(ATM):c.8359G>A (p.Ala2787Thr)
|
rs1591248677
|
|
NM_000051.4(ATM):c.8359G>C (p.Ala2787Pro)
|
|
|
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val)
|
rs879253877
|
|
NM_000051.4(ATM):c.8363A>C (p.His2788Pro)
|
rs1555135716
|
|
NM_000051.4(ATM):c.8363A>G (p.His2788Arg)
|
rs1555135716
|
|
NM_000051.4(ATM):c.8364T>A (p.His2788Gln)
|
rs1591248749
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
NM_000051.4(ATM):c.8372A>G (p.Tyr2791Cys)
|
rs534914490
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser)
|
rs1174335574
|
|
NM_000051.4(ATM):c.8378del (p.Pro2793fs)
|
|
|
NM_000051.4(ATM):c.8380A>G (p.Asn2794Asp)
|
|
|
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
|
|
|
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
|
|
|
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr)
|
rs1565558417
|
|
NM_000051.4(ATM):c.8386T>C (p.Phe2796Leu)
|
rs1591249094
|
|
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
|
|
|
NM_000051.4(ATM):c.8388_8390del (p.Ser2797del)
|
|
|
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn)
|
rs1203037698
|
|
NM_000051.4(ATM):c.8394C>A (p.Ala2798=)
|
|
|
NM_000051.4(ATM):c.8394C>T (p.Ala2798=)
|
rs2136951901
|
|
NM_000051.4(ATM):c.8395T>A (p.Phe2799Ile)
|
rs730881323
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8397T>A (p.Phe2799Leu)
|
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8398C>A (p.Gln2800Lys)
|
|
|
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro)
|
rs879254273
|
|
NM_000051.4(ATM):c.8402G>A (p.Cys2801Tyr)
|
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
NM_000051.4(ATM):c.8403C>T (p.Cys2801=)
|
rs1555135852
|
|
NM_000051.4(ATM):c.8408del (p.Lys2803fs)
|
rs1591249359
|
|
NM_000051.4(ATM):c.8409G>A (p.Lys2803=)
|
rs1591249389
|
|
NM_000051.4(ATM):c.8415G>A (p.Met2805Ile)
|
rs1555135878
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr)
|
rs1234463032
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5G>T
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8418+704G>T
|
|
|
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8419-1G>A
|
|
|
NM_000051.4(ATM):c.8419-1G>C
|
rs1555137920
|
|
NM_000051.4(ATM):c.8419-7_8419-4del
|
rs730881306
|
|
NM_000051.4(ATM):c.8419G>A (p.Glu2807Lys)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8421G>A (p.Glu2807=)
|
rs1555137945
|
|
NM_000051.4(ATM):c.8421G>C (p.Glu2807Asp)
|
|
|
NM_000051.4(ATM):c.8422G>A (p.Val2808Met)
|
rs876660616
|
|
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala)
|
rs1359195708
|
|
NM_000051.4(ATM):c.8424G>A (p.Val2808=)
|
|
|
NM_000051.4(ATM):c.8424G>C (p.Val2808=)
|
|
|
NM_000051.4(ATM):c.8424G>T (p.Val2808=)
|
rs786203870
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del)
|
rs587782558
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8433G>T (p.Lys2811Asn)
|
|
|
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro)
|
rs786202372
|
|
NM_000051.4(ATM):c.8435C>A (p.Ser2812Tyr)
|
rs1565563280
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer)
|
rs991405942
|
|
NM_000051.4(ATM):c.8438_8439insCT (p.Glu2814fs)
|
rs1591264194
|
|
NM_000051.4(ATM):c.8446A>C (p.Lys2816Gln)
|
rs1555138041
|
|
NM_000051.4(ATM):c.8455G>A (p.Val2819Ile)
|
|
|
NM_000051.4(ATM):c.8456T>C (p.Val2819Ala)
|
|
|
NM_000051.4(ATM):c.8457C>A (p.Val2819=)
|
rs2137027225
|
|
NM_000051.4(ATM):c.8458T>G (p.Phe2820Val)
|
|
|
NM_000051.4(ATM):c.8461A>C (p.Met2821Leu)
|
|
|
NM_000051.4(ATM):c.8462T>C (p.Met2821Thr)
|
rs1555138065
|
|
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)
|
rs1555138065
|
|
NM_000051.4(ATM):c.8463G>T (p.Met2821Ile)
|
|
|
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
|
|
|
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr)
|
rs876660927
|
|
NM_000051.4(ATM):c.8472C>T (p.Cys2824=)
|
rs1555138090
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8474A>C (p.Gln2825Pro)
|
|
|
NM_000051.4(ATM):c.8474A>G (p.Gln2825Arg)
|
rs1555138094
|
|
NM_000051.4(ATM):c.8475A>G (p.Gln2825=)
|
rs769656947
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser)
|
rs1591264493
|
|
NM_000051.4(ATM):c.8478T>C (p.Asn2826=)
|
rs1315026465
|
|
NM_000051.4(ATM):c.8481T>C (p.Phe2827=)
|
|
|
NM_000051.4(ATM):c.8481T>G (p.Phe2827Leu)
|
rs886047614
|
|
NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu)
|
rs1555138125
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
NM_000051.4(ATM):c.8486C>G (p.Pro2829Arg)
|
|
|
NM_000051.4(ATM):c.8489T>G (p.Val2830Gly)
|
rs1591264625
|
|
NM_000051.4(ATM):c.8492T>A (p.Phe2831Tyr)
|
rs1591264665
|
|
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro)
|
rs529296539
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8498A>G (p.Tyr2833Cys)
|
rs1555138162
|
|
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)
|
|
|
NM_000051.4(ATM):c.8500T>A (p.Phe2834Ile)
|
rs1591264768
|
|
NM_000051.4(ATM):c.8501T>G (p.Phe2834Cys)
|
rs1591264788
|
|
NM_000051.4(ATM):c.8502C>T (p.Phe2834=)
|
rs1555138167
|
|
NM_000051.4(ATM):c.8504G>A (p.Cys2835Tyr)
|
rs759655842
|
|
NM_000051.4(ATM):c.8504G>C (p.Cys2835Ser)
|
|
|
NM_000051.4(ATM):c.8506A>G (p.Met2836Val)
|
rs879253968
|
|
NM_000051.4(ATM):c.8507T>C (p.Met2836Thr)
|
rs1591264886
|
|
NM_000051.4(ATM):c.8508G>A (p.Met2836Ile)
|
|
|
NM_000051.4(ATM):c.8514dup (p.Phe2839fs)
|
rs876659010
|
|
NM_000051.4(ATM):c.8515T>A (p.Phe2839Ile)
|
rs876658958
|
|
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu)
|
rs767845728
|
|
NM_000051.4(ATM):c.8518T>C (p.Leu2840=)
|
rs794727769
|
|
NM_000051.4(ATM):c.8521G>C (p.Asp2841His)
|
rs786203013
|
|
NM_000051.4(ATM):c.8521G>T (p.Asp2841Tyr)
|
rs786203013
|
|
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser)
|
rs876659505
|
|
NM_000051.4(ATM):c.8525C>T (p.Pro2842Leu)
|
rs879254065
|
|
NM_000051.4(ATM):c.8526A>G (p.Pro2842=)
|
rs900737596
|
|
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle)
|
rs1555138275
|
|
NM_000051.4(ATM):c.8531T>C (p.Ile2844Thr)
|
|
|
NM_000051.4(ATM):c.8531T>G (p.Ile2844Ser)
|
rs1591265172
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
NM_000051.4(ATM):c.8533del (p.Trp2845fs)
|
rs1591265186
|
|
NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu)
|
rs2137034202
|
|
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)
|
|
|
NM_000051.4(ATM):c.8545C>A (p.Arg2849=)
|
rs587778080
|
|
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly)
|
rs587778080
|
|
NM_000051.4(ATM):c.8546G>T (p.Arg2849Leu)
|
|
|
NM_000051.4(ATM):c.8547A>G (p.Arg2849=)
|
|
|
NM_000051.4(ATM):c.8548T>G (p.Leu2850Val)
|
rs1555138320
|
|
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser)
|
rs876658716
|
|
NM_000051.4(ATM):c.8551G>A (p.Ala2851Thr)
|
|
|
NM_000051.4(ATM):c.8551G>C (p.Ala2851Pro)
|
|
|
NM_000051.4(ATM):c.8552C>A (p.Ala2851Asp)
|
|
|
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val)
|
rs876659701
|
|
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)
|
rs779394254
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg)
|
rs141534716
|
|
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)
|
rs368058202
|
|
NM_000051.4(ATM):c.8561G>A (p.Arg2854His)
|
rs1060501605
|
|
NM_000051.4(ATM):c.8562C>T (p.Arg2854=)
|
rs878853550
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
NM_000051.4(ATM):c.8567T>C (p.Val2856Ala)
|
|
|
NM_000051.4(ATM):c.8569G>A (p.Ala2857Thr)
|
rs1591265701
|
|
NM_000051.4(ATM):c.8570C>G (p.Ala2857Gly)
|
rs2137037690
|
|
NM_000051.4(ATM):c.8571T>C (p.Ala2857=)
|
rs786203050
|
|
NM_000051.4(ATM):c.8573C>A (p.Thr2858Asn)
|
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8576C>G (p.Ser2859Cys)
|
rs786203542
|
|
NM_000051.4(ATM):c.8579C>G (p.Ser2860Cys)
|
rs1158350157
|
|
NM_000051.4(ATM):c.8579C>T (p.Ser2860Phe)
|
|
|
NM_000051.4(ATM):c.8584+16A>G
|
rs1322889530
|
|
NM_000051.4(ATM):c.8584+1G>A
|
rs876658182
|
|
NM_000051.4(ATM):c.8584+3A>G
|
|
|
NM_000051.4(ATM):c.8584+4A>G
|
rs1555138484
|
|
NM_000051.4(ATM):c.8585-1G>A
|
rs876660066
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
NM_000051.4(ATM):c.8585-3C>T
|
|
|
NM_000051.4(ATM):c.8585-4C>T
|
rs1555139447
|
|
NM_000051.4(ATM):c.8587G>A (p.Gly2863Ser)
|
|
|
NM_000051.4(ATM):c.8588G>T (p.Gly2863Val)
|
rs786201911
|
|
NM_000051.4(ATM):c.8589_8600del (p.Tyr2864_Gly2867del)
|
|
|
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)
|
rs56025670
|
|
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr)
|
rs587779873
|
|
NM_000051.4(ATM):c.8595A>G (p.Ile2865Met)
|
|
|
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe)
|
rs368666328
|
|
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro)
|
rs1555139517
|
|
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg)
|
rs2137079086
|
|
NM_000051.4(ATM):c.8602C>G (p.Leu2868Val)
|
rs587780642
|
|
NM_000051.4(ATM):c.8602C>T (p.Leu2868Phe)
|
|
|
NM_000051.4(ATM):c.8603T>G (p.Leu2868Arg)
|
|
|
NM_000051.4(ATM):c.8603_8604insA (p.Gly2869fs)
|
|
|
NM_000051.4(ATM):c.8604T>G (p.Leu2868=)
|
rs2088545756
|
|
NM_000051.4(ATM):c.8606G>A (p.Gly2869Asp)
|
rs1555139531
|
|
NM_000051.4(ATM):c.8606G>C (p.Gly2869Ala)
|
rs1555139531
|
|
NM_000051.4(ATM):c.8608G>A (p.Asp2870Asn)
|
rs55798854
|
|
NM_000051.4(ATM):c.8609A>G (p.Asp2870Gly)
|
rs1555139540
|
|
NM_000051.4(ATM):c.8610T>C (p.Asp2870=)
|
rs1370524851
|
|
NM_000051.4(ATM):c.8612G>A (p.Arg2871Lys)
|
|
|
NM_000051.4(ATM):c.8612G>C (p.Arg2871Thr)
|
rs1555139547
|
|
NM_000051.4(ATM):c.8615A>G (p.His2872Arg)
|
rs1591273938
|
|
NM_000051.4(ATM):c.8615A>T (p.His2872Leu)
|
rs1591273938
|
|
NM_000051.4(ATM):c.8616T>G (p.His2872Gln)
|
rs1555139556
|
|
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser)
|
rs587782451
|
|
NM_000051.4(ATM):c.8624dup (p.Asn2875fs)
|
rs876660411
|
|
NM_000051.4(ATM):c.8626A>C (p.Ile2876Leu)
|
|
|
NM_000051.4(ATM):c.8626_8627dup (p.Leu2877fs)
|
|
|
NM_000051.4(ATM):c.8627T>C (p.Ile2876Thr)
|
rs2137081967
|
|
NM_000051.4(ATM):c.8628C>A (p.Ile2876=)
|
rs1555139577
|
|
NM_000051.4(ATM):c.8631G>A (p.Leu2877=)
|
rs1064794840
|
|
NM_000051.4(ATM):c.8631G>C (p.Leu2877Phe)
|
rs1064794840
|
|
NM_000051.4(ATM):c.8632A>C (p.Ile2878Leu)
|
rs1591274185
|
|
NM_000051.4(ATM):c.8635_8636del (p.Ile2878_Asn2879insTer)
|
|
|
NM_000051.4(ATM):c.8636del (p.Asn2879fs)
|
|
|
NM_000051.4(ATM):c.8641C>G (p.Gln2881Glu)
|
|
|
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)
|
rs1057520672
|
|
NM_000051.4(ATM):c.8643G>C (p.Gln2881His)
|
|
|
NM_000051.4(ATM):c.8646A>G (p.Ser2882=)
|
rs1027903529
|
|
NM_000051.4(ATM):c.8647G>C (p.Ala2883Pro)
|
|
|
NM_000051.4(ATM):c.8650G>A (p.Glu2884Lys)
|
|
|
NM_000051.4(ATM):c.8655T>C (p.Leu2885=)
|
rs1555139640
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8656_8658delinsATT (p.Val2886Ile)
|
rs786202067
|
|
NM_000051.4(ATM):c.8657T>C (p.Val2886Ala)
|
|
|
NM_000051.4(ATM):c.8657T>G (p.Val2886Gly)
|
rs1591274458
|
|
NM_000051.4(ATM):c.8658A>T (p.Val2886=)
|
rs1377662728
|
|
NM_000051.4(ATM):c.8660A>C (p.His2887Pro)
|
rs864622173
|
|
NM_000051.4(ATM):c.8660A>G (p.His2887Arg)
|
rs864622173
|
|
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr)
|
rs760955058
|
|
NM_000051.4(ATM):c.8663T>G (p.Ile2888Arg)
|
rs760955058
|
|
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn)
|
rs587781814
|
|
NM_000051.4(ATM):c.8665G>C (p.Asp2889His)
|
rs587781814
|
|
NM_000051.4(ATM):c.8667T>A (p.Asp2889Glu)
|
rs1565567506
|
|
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val)
|
rs587779874
|
|
NM_000051.4(ATM):c.8669T>C (p.Leu2890Pro)
|
rs2088565976
|
|
NM_000051.4(ATM):c.8671+1G>A
|
|
|
NM_000051.4(ATM):c.8671+2T>G
|
rs1057516229
|
|
NM_000051.4(ATM):c.8671+4A>C
|
rs876660652
|
|
NM_000051.4(ATM):c.8671+4A>G
|
rs876660652
|
|
NM_000051.4(ATM):c.8671G>A (p.Gly2891Ser)
|
rs1565567541
|
|
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg)
|
rs1565567541
|
|
NM_000051.4(ATM):c.8672-1G>A
|
rs876660088
|
|
NM_000051.4(ATM):c.8672-1G>T
|
rs876660088
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
NM_000051.4(ATM):c.8672-5T>C
|
rs1591306315
|
|
NM_000051.4(ATM):c.8672G>C (p.Gly2891Ala)
|
|
|
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)
|
rs748192003
|
|
NM_000051.4(ATM):c.8674G>T (p.Val2892Phe)
|
rs1064793425
|
|
NM_000051.4(ATM):c.8675T>C (p.Val2892Ala)
|
rs1591306442
|
|
NM_000051.4(ATM):c.8678C>T (p.Ala2893Val)
|
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
NM_000051.4(ATM):c.8685A>G (p.Glu2895=)
|
|
|
NM_000051.4(ATM):c.8687_8688del (p.Gln2896fs)
|
|
|
NM_000051.4(ATM):c.8689G>T (p.Gly2897Cys)
|
rs2089494758
|
|
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp)
|
rs1591306536
|
|
NM_000051.4(ATM):c.8691C>A (p.Gly2897=)
|
rs1555142814
|
|
NM_000051.4(ATM):c.8695A>G (p.Ile2899Val)
|
rs1591306598
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8697C>G (p.Ile2899Met)
|
rs1333079704
|
|
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu)
|
rs1565579149
|
|
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile)
|
rs1591306636
|
|
NM_000051.4(ATM):c.8707C>T (p.Pro2903Ser)
|
rs1591306666
|
|
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln)
|
rs1591306697
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8711A>T (p.Glu2904Val)
|
|
|
NM_000051.4(ATM):c.8712G>A (p.Glu2904=)
|
rs1349488841
|
|
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
|
|
|
NM_000051.4(ATM):c.8713A>C (p.Thr2905Pro)
|
rs1555142833
|
|
NM_000051.4(ATM):c.8714dup (p.Val2906fs)
|
|
|
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)
|
rs786202933
|
|
NM_000051.4(ATM):c.8716G>T (p.Val2906Phe)
|
|
|
NM_000051.4(ATM):c.8720C>G (p.Pro2907Arg)
|
rs56887719
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8728C>G (p.Leu2910Val)
|
|
|
NM_000051.4(ATM):c.8728C>T (p.Leu2910Phe)
|
rs1555142851
|
|
NM_000051.4(ATM):c.8730C>A (p.Leu2910=)
|
rs551041839
|
|
NM_000051.4(ATM):c.8731A>C (p.Thr2911Pro)
|
rs786203271
|
|
NM_000051.4(ATM):c.8731A>G (p.Thr2911Ala)
|
rs786203271
|
|
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)
|
rs794728018
|
|
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del)
|
|
|
NM_000051.4(ATM):c.8733C>A (p.Thr2911=)
|
rs1057523011
|
|
NM_000051.4(ATM):c.8737G>C (p.Asp2913His)
|
rs756899044
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8738A>G (p.Asp2913Gly)
|
|
|
NM_000051.4(ATM):c.8739T>C (p.Asp2913=)
|
rs764778912
|
|
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu)
|
rs764778912
|
|
NM_000051.4(ATM):c.8740A>T (p.Ile2914Phe)
|
|
|
NM_000051.4(ATM):c.8742T>C (p.Ile2914=)
|
|
|
NM_000051.4(ATM):c.8746G>A (p.Asp2916Asn)
|
rs150874041
|
|
NM_000051.4(ATM):c.8751C>A (p.Gly2917=)
|
|
|
NM_000051.4(ATM):c.8751C>G (p.Gly2917=)
|
rs779858366
|
|
NM_000051.4(ATM):c.8755G>A (p.Gly2919Ser)
|
|
|
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp)
|
rs2137294046
|
|
NM_000051.4(ATM):c.8757C>T (p.Gly2919=)
|
rs987508358
|
|
NM_000051.4(ATM):c.8758A>G (p.Ile2920Val)
|
rs1555142880
|
|
NM_000051.4(ATM):c.8761A>T (p.Thr2921Ser)
|
rs876658823
|
|
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys)
|
rs730881329
|
|
NM_000051.4(ATM):c.8762C>G (p.Thr2921Arg)
|
|
|
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)
|
rs781528244
|
|
NM_000051.4(ATM):c.8763G>T (p.Thr2921=)
|
rs781528244
|
|
NM_000051.4(ATM):c.8765G>A (p.Gly2922Asp)
|
rs2089517173
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
NM_000051.4(ATM):c.8768T>A (p.Val2923Asp)
|
rs786203055
|
|
NM_000051.4(ATM):c.8769T>C (p.Val2923=)
|
rs1591307335
|
|
NM_000051.4(ATM):c.8770G>A (p.Glu2924Lys)
|
rs2137295860
|
|
NM_000051.4(ATM):c.8773G>A (p.Gly2925Ser)
|
rs876658519
|
|
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp)
|
rs769959260
|
|
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val)
|
rs769959260
|
|
NM_000051.4(ATM):c.8778C>T (p.Val2926=)
|
rs1430419604
|
|
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)
|
rs1555142909
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8786+5G>A
|
|
|
NM_000051.4(ATM):c.8786_8786+3del
|
rs1060501569
|
|
NM_000051.4(ATM):c.8787-1G>A
|
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8787-3T>C
|
rs2089687765
|
|
NM_000051.4(ATM):c.8787-5T>C
|
rs1479499265
|
|
NM_000051.4(ATM):c.8787A>G (p.Arg2929=)
|
rs1555143477
|
|
NM_000051.4(ATM):c.8788T>G (p.Cys2930Gly)
|
rs876659807
|
|
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp)
|
rs1565582275
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys)
|
rs1240328733
|
|
NM_000051.4(ATM):c.8794G>T (p.Glu2932Ter)
|
|
|
NM_000051.4(ATM):c.8802C>G (p.Thr2934=)
|
rs1565582354
|
|
NM_000051.4(ATM):c.8802C>T (p.Thr2934=)
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
NM_000051.4(ATM):c.8804T>C (p.Met2935Thr)
|
rs2137348119
|
|
NM_000051.4(ATM):c.8804T>G (p.Met2935Arg)
|
|
|
NM_000051.4(ATM):c.8809G>A (p.Val2937Met)
|
rs786203917
|
|
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)
|
rs587782149
|
|
NM_000051.4(ATM):c.8811G>A (p.Val2937=)
|
rs1591314147
|
|
NM_000051.4(ATM):c.8811G>T (p.Val2937=)
|
rs1591314147
|
|
NM_000051.4(ATM):c.8815A>C (p.Arg2939=)
|
rs1555143522
|
|
NM_000051.4(ATM):c.8817A>G (p.Arg2939=)
|
rs2137350094
|
|
NM_000051.4(ATM):c.8818A>G (p.Asn2940Asp)
|
rs1565582460
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
NM_000051.4(ATM):c.8820C>G (p.Asn2940Lys)
|
rs775823407
|
|
NM_000051.4(ATM):c.8821T>C (p.Ser2941Pro)
|
rs1555143549
|
|
NM_000051.4(ATM):c.8822C>T (p.Ser2941Phe)
|
rs1591314282
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)
|
rs1591314316
|
|
NM_000051.4(ATM):c.8832T>A (p.Thr2944=)
|
rs1591314366
|
|
NM_000051.4(ATM):c.8833C>G (p.Leu2945Val)
|
rs786203505
|
|
NM_000051.4(ATM):c.8833C>T (p.Leu2945=)
|
rs786203505
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8834T>A (p.Leu2945Gln)
|
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8836T>C (p.Leu2946=)
|
|
|
NM_000051.4(ATM):c.8837T>C (p.Leu2946Ser)
|
rs2137352720
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
NM_000051.4(ATM):c.8839A>T (p.Thr2947Ser)
|
rs760950400
|
|
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn)
|
rs1555143579
|
|
NM_000051.4(ATM):c.8841C>G (p.Thr2947=)
|
rs2137353155
|
|
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val)
|
rs1333760745
|
|
NM_000051.4(ATM):c.8842_8850+3824del
|
|
|
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr)
|
rs876659516
|
|
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile)
|
rs587782497
|
|
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala)
|
rs2089701066
|
|
NM_000051.4(ATM):c.8846T>G (p.Val2949Gly)
|
|
|
NM_000051.4(ATM):c.8850+1G>A
|
rs1555143620
|
|
NM_000051.4(ATM):c.8850+1G>T
|
|
|
NM_000051.4(ATM):c.8850+2T>C
|
rs1555143623
|
|
NM_000051.4(ATM):c.8850+5A>C
|
rs1057522186
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
NM_000051.4(ATM):c.8850G>C (p.Glu2950Asp)
|
|
|
NM_000051.4(ATM):c.8851-2A>G
|
rs886039647
|
|
NM_000051.4(ATM):c.8851-2A>T
|
|
|
NM_000051.4(ATM):c.8851-3T>C
|
rs748874219
|
|
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile)
|
rs1555151205
|
|
NM_000051.4(ATM):c.8852dup (p.Leu2952fs)
|
|
|
NM_000051.4(ATM):c.8853C>G (p.Val2951=)
|
rs878853552
|
|
NM_000051.4(ATM):c.8854C>A (p.Leu2952Ile)
|
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
NM_000051.4(ATM):c.8863del (p.Asp2955fs)
|
|
|
NM_000051.4(ATM):c.8865del (p.Pro2956fs)
|
rs1591384391
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)
|
rs864622669
|
|
NM_000051.4(ATM):c.8875G>A (p.Asp2959Asn)
|
|
|
NM_000051.4(ATM):c.8875G>C (p.Asp2959His)
|
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg)
|
rs1064794739
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
NM_000051.4(ATM):c.8880G>C (p.Trp2960Cys)
|
rs1060501650
|
|
NM_000051.4(ATM):c.8890C>A (p.Pro2964Thr)
|
|
|
NM_000051.4(ATM):c.8891C>T (p.Pro2964Leu)
|
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
NM_000051.4(ATM):c.8894T>G (p.Leu2965Trp)
|
rs1555151299
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe)
|
rs200899512
|
|
NM_000051.4(ATM):c.8904G>A (p.Leu2968=)
|
rs1555151326
|
|
NM_000051.4(ATM):c.8904G>T (p.Leu2968Phe)
|
rs1555151326
|
|
NM_000051.4(ATM):c.8904_8905del (p.Tyr2969fs)
|
|
|
NM_000051.4(ATM):c.8905T>C (p.Tyr2969His)
|
rs1591384712
|
|
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys)
|
rs376524155
|
|
NM_000051.4(ATM):c.8910A>G (p.Leu2970=)
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8912A>G (p.Gln2971Arg)
|
rs1060501714
|
|
NM_000051.4(ATM):c.8916G>A (p.Gln2972=)
|
rs1555151349
|
|
NM_000051.4(ATM):c.8917A>G (p.Arg2973Gly)
|
rs1555151352
|
|
NM_000051.4(ATM):c.8917A>T (p.Arg2973Trp)
|
|
|
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met)
|
rs730881331
|
|
NM_000051.4(ATM):c.8919G>A (p.Arg2973=)
|
rs786203613
|
|
NM_000051.4(ATM):c.8920C>A (p.Pro2974Thr)
|
rs984616023
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
NM_000051.4(ATM):c.8926G>T (p.Asp2976Tyr)
|
|
|
NM_000051.4(ATM):c.8928T>C (p.Asp2976=)
|
rs786202343
|
|
NM_000051.4(ATM):c.8934T>C (p.Thr2978=)
|
rs1057521029
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
NM_000051.4(ATM):c.8937G>A (p.Glu2979=)
|
rs876658242
|
|
NM_000051.4(ATM):c.8937G>T (p.Glu2979Asp)
|
rs876658242
|
|
NM_000051.4(ATM):c.8938C>G (p.Leu2980Val)
|
rs786203721
|
|
NM_000051.4(ATM):c.8939T>C (p.Leu2980Pro)
|
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8943C>G (p.His2981Gln)
|
rs876660594
|
|
NM_000051.4(ATM):c.8945C>A (p.Pro2982His)
|
|
|
NM_000051.4(ATM):c.8946T>C (p.Pro2982=)
|
rs780572651
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val)
|
rs747445236
|
|
NM_000051.4(ATM):c.8950C>T (p.Leu2984=)
|
rs747445236
|
|
NM_000051.4(ATM):c.8955T>G (p.Asn2985Lys)
|
rs755561691
|
|
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)
|
rs863224582
|
|
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)
|
rs863224582
|
|
NM_000051.4(ATM):c.8960A>G (p.Asp2987Gly)
|
rs2091213427
|
|
NM_000051.4(ATM):c.8960A>T (p.Asp2987Val)
|
|
|
NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg)
|
rs1555151490
|
|
NM_000051.4(ATM):c.8967A>G (p.Gln2989=)
|
rs876659033
|
|
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln)
|
rs1800558
|
|
NM_000051.4(ATM):c.8971T>A (p.Cys2991Ser)
|
|
|
NM_000051.4(ATM):c.8971T>C (p.Cys2991Arg)
|
rs1591385376
|
|
NM_000051.4(ATM):c.8972G>A (p.Cys2991Tyr)
|
rs1555151500
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8979A>C (p.Arg2993=)
|
rs1042288533
|
|
NM_000051.4(ATM):c.8979A>G (p.Arg2993=)
|
rs1042288533
|
|
NM_000051.4(ATM):c.8983C>T (p.Leu2995Phe)
|
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
NM_000051.4(ATM):c.8987+5G>C
|
rs876660570
|
|
NM_000051.4(ATM):c.8987G>A (p.Ser2996Asn)
|
rs1555151525
|
|
NM_000051.4(ATM):c.8987G>C (p.Ser2996Thr)
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.8988-5C>T
|
rs1591386387
|
|
NM_000051.4(ATM):c.8988T>C (p.Ser2996=)
|
|
|
NM_000051.4(ATM):c.8991_8992insG (p.Ile2998fs)
|
|
|
NM_000051.4(ATM):c.8995G>C (p.Asp2999His)
|
|
|
NM_000051.4(ATM):c.8996A>T (p.Asp2999Val)
|
rs1555151684
|
|
NM_000051.4(ATM):c.8998C>G (p.Gln3000Glu)
|
rs587781698
|
|
NM_000051.4(ATM):c.9000G>A (p.Gln3000=)
|
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
NM_000051.4(ATM):c.9002G>C (p.Ser3001Thr)
|
rs587781413
|
|
NM_000051.4(ATM):c.9005del (p.Phe3002fs)
|
rs876659235
|
|
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu)
|
rs540172506
|
|
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu)
|
rs540172506
|
|
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)
|
rs144636562
|
|
NM_000051.4(ATM):c.9009C>T (p.Asn3003=)
|
|
|
NM_000051.4(ATM):c.9013G>A (p.Val3005Ile)
|
rs1555151745
|
|
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala)
|
rs876659968
|
|
NM_000051.4(ATM):c.9014dup (p.Ala3006fs)
|
rs1591386748
|
|
NM_000051.4(ATM):c.9016G>A (p.Ala3006Thr)
|
rs876658767
|
|
NM_000051.4(ATM):c.9016G>C (p.Ala3006Pro)
|
rs876658767
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
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NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)
|
rs1565608897
|
|
NM_000051.4(ATM):c.9021A>G (p.Glu3007=)
|
|
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NM_000051.4(ATM):c.9021A>T (p.Glu3007Asp)
|
rs1565608897
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser)
|
rs587782292
|
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NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly)
|
rs587782292
|
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NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro)
|
rs587781894
|
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NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu)
|
rs587781894
|
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NM_000051.4(ATM):c.9024T>C (p.Arg3008=)
|
rs876658179
|
|
NM_000051.4(ATM):c.9026T>C (p.Val3009Ala)
|
|
|
NM_000051.4(ATM):c.9027C>A (p.Val3009=)
|
rs1200351979
|
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NM_000051.4(ATM):c.9027C>G (p.Val3009=)
|
rs1200351979
|
|
NM_000051.4(ATM):c.9029T>C (p.Leu3010Ser)
|
rs2137909752
|
|
NM_000051.4(ATM):c.9031A>T (p.Met3011Leu)
|
rs372795527
|
|
NM_000051.4(ATM):c.9032T>A (p.Met3011Lys)
|
rs1555151804
|
|
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg)
|
rs1555151804
|
|
NM_000051.4(ATM):c.9037C>T (p.Leu3013=)
|
rs1555151809
|
|
NM_000051.4(ATM):c.9039A>G (p.Leu3013=)
|
rs876659127
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9042A>G (p.Gln3014=)
|
rs1060504291
|
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NM_000051.4(ATM):c.9042A>T (p.Gln3014His)
|
rs1060504291
|
|
NM_000051.4(ATM):c.9043G>A (p.Glu3015Lys)
|
rs1591387120
|
|
NM_000051.4(ATM):c.9044A>G (p.Glu3015Gly)
|
rs1565609065
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9048A>G (p.Lys3016=)
|
rs553001467
|
|
NM_000051.4(ATM):c.9050T>A (p.Leu3017Gln)
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|
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NM_000051.4(ATM):c.9051G>A (p.Leu3017=)
|
rs1467393169
|
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NM_000051.4(ATM):c.9054A>C (p.Lys3018Asn)
|
|
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NM_000051.4(ATM):c.9054del (p.Gly3019fs)
|
|
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NM_000051.4(ATM):c.9057del (p.Val3020fs)
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|
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NM_000051.4(ATM):c.9059T>C (p.Val3020Ala)
|
|
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NM_000051.4(ATM):c.9063A>G (p.Glu3021=)
|
rs1555151874
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser)
|
rs879253964
|
|
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp)
|
rs769548726
|
|
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro)
|
rs587781630
|
|
NM_000051.4(ATM):c.9071del (p.Thr3024fs)
|
|
|
NM_000051.4(ATM):c.9073G>A (p.Val3025Met)
|
rs1555151925
|
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NM_000051.4(ATM):c.9073G>T (p.Val3025Leu)
|
rs1555151925
|
|
NM_000051.4(ATM):c.9074T>C (p.Val3025Ala)
|
rs2137916904
|
|
NM_000051.4(ATM):c.9078C>A (p.Leu3026=)
|
|
|
NM_000051.4(ATM):c.9078C>G (p.Leu3026=)
|
rs901284125
|
|
NM_000051.4(ATM):c.9078C>T (p.Leu3026=)
|
rs901284125
|
|
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs)
|
rs1591387609
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9080G>A (p.Ser3027Asn)
|
rs1565609342
|
|
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile)
|
rs1565609342
|
|
NM_000051.4(ATM):c.9081T>C (p.Ser3027=)
|
rs2091248229
|
|
NM_000051.4(ATM):c.9082G>A (p.Val3028Ile)
|
rs876660251
|
|
NM_000051.4(ATM):c.9084T>C (p.Val3028=)
|
rs786203210
|
|
NM_000051.4(ATM):c.9085G>C (p.Gly3029Arg)
|
|
|
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)
|
rs2137919004
|
|
NM_000051.4(ATM):c.9088G>C (p.Gly3030Arg)
|
rs879254215
|
|
NM_000051.4(ATM):c.9089G>A (p.Gly3030Glu)
|
rs876658529
|
|
NM_000051.4(ATM):c.9089G>T (p.Gly3030Val)
|
rs876658529
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9091del (p.Gln3031fs)
|
rs2091250180
|
|
NM_000051.4(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu)
|
rs1555151979
|
|
NM_000051.4(ATM):c.9094G>A (p.Val3032Met)
|
rs587779877
|
|
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser)
|
rs1555151991
|
|
NM_000051.4(ATM):c.9100T>C (p.Leu3034=)
|
rs2091251592
|
|
NM_000051.4(ATM):c.9101T>G (p.Leu3034Trp)
|
rs1555151992
|
|
NM_000051.4(ATM):c.9103C>A (p.Leu3035Ile)
|
rs866769874
|
|
NM_000051.4(ATM):c.9103C>G (p.Leu3035Val)
|
rs866769874
|
|
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe)
|
rs866769874
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)
|
rs1131691391
|
|
NM_000051.4(ATM):c.9114G>C (p.Gln3038His)
|
rs2091254206
|
|
NM_000051.4(ATM):c.9116C>T (p.Ala3039Val)
|
|
|
NM_000051.4(ATM):c.9117C>T (p.Ala3039=)
|
rs1289926943
|
|
NM_000051.4(ATM):c.9120A>C (p.Ile3040=)
|
|
|
NM_000051.4(ATM):c.9126C>G (p.Pro3042=)
|
|
|
NM_000051.4(ATM):c.9127A>G (p.Lys3043Glu)
|
rs1591388080
|
|
NM_000051.4(ATM):c.9129A>C (p.Lys3043Asn)
|
|
|
NM_000051.4(ATM):c.9129A>G (p.Lys3043=)
|
|
|
NM_000051.4(ATM):c.9131A>T (p.Asn3044Ile)
|
rs1555152029
|
|
NM_000051.4(ATM):c.9133C>A (p.Leu3045Ile)
|
|
|
NM_000051.4(ATM):c.9134T>C (p.Leu3045Pro)
|
rs1591388159
|
|
NM_000051.4(ATM):c.9135C>G (p.Leu3045=)
|
|
|
NM_000051.4(ATM):c.9135C>T (p.Leu3045=)
|
rs2137926498
|
|
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly)
|
rs1555152041
|
|
NM_000051.4(ATM):c.9138C>T (p.Ser3046=)
|
rs1591388202
|
|
NM_000051.4(ATM):c.9140G>A (p.Arg3047Gln)
|
rs1047129530
|
|
NM_000051.4(ATM):c.9140G>T (p.Arg3047Leu)
|
|
|
NM_000051.4(ATM):c.9141A>C (p.Arg3047=)
|
|
|
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe)
|
rs876660534
|
|
NM_000051.4(ATM):c.9143T>G (p.Leu3048Arg)
|
|
|
NM_000051.4(ATM):c.9144T>A (p.Leu3048=)
|
rs2137927802
|
|
NM_000051.4(ATM):c.9144T>C (p.Leu3048=)
|
rs2137927802
|
|
NM_000051.4(ATM):c.9145T>C (p.Phe3049Leu)
|
|
|
NM_000051.4(ATM):c.9145T>G (p.Phe3049Val)
|
rs1591388288
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.9148C>T (p.Pro3050Ser)
|
rs2137928327
|
|
NM_000051.4(ATM):c.9151G>C (p.Gly3051Arg)
|
rs730881332
|
|
NM_000051.4(ATM):c.9153A>C (p.Gly3051=)
|
rs1555152080
|
|
NM_000051.4(ATM):c.9153A>G (p.Gly3051=)
|
|
|
NM_000051.4(ATM):c.9153A>T (p.Gly3051=)
|
|
|
NM_000051.4(ATM):c.9155G>C (p.Trp3052Ser)
|
rs1591388369
|
|
NM_000051.4(ATM):c.9156G>T (p.Trp3052Cys)
|
rs587781711
|
|
NM_000051.4(ATM):c.9157A>C (p.Lys3053Gln)
|
rs1555152104
|
|
NM_000051.4(ATM):c.9158A>G (p.Lys3053Arg)
|
|
|
NM_000051.4(ATM):c.9159A>G (p.Lys3053=)
|
rs1060504315
|
|
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)
|
rs1565609869
|
|
NM_000051.4(ATM):c.9161C>G (p.Ala3054Gly)
|
rs1555152117
|
|
NM_000051.4(ATM):c.9161C>T (p.Ala3054Val)
|
rs1555152117
|
|
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser)
|
rs2137930567
|
|
NM_000051.4(ATM):c.9166del (p.Val3056fs)
|
rs876659234
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)
|
rs2091262802
|
|
NM_001330368.2(C11orf65):c.641-34150del
|
rs1555135341
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|