NM_000051.4(ATM):c.8851-973A>C
|
rs170548
|
0.27178
|
NM_000051.4(ATM):c.8010+186C>T
|
rs227060
|
0.26885
|
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.8269-14A>T
|
rs114320959
|
0.00195
|
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.7928-10T>C
|
rs188404773
|
0.00079
|
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.8418+13C>T
|
rs372552946
|
0.00041
|
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.8010+185_8010+186del
|
rs984385407
|
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.8584+10T>C
|
rs373321041
|
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.8671+9T>G
|
rs200190537
|
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.6348-8T>C
|
rs730881292
|
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.6572+11C>T
|
rs368049107
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000051.4(ATM):c.7789-15G>C
|
rs781449587
|
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.6096-14A>G
|
rs184029731
|
0.00006
|
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.6573-16A>G
|
rs764506673
|
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.8786+20G>C
|
rs56283878
|
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.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6347+6A>C
|
rs750501197
|
0.00003
|
NM_000051.4(ATM):c.6452+17A>G
|
rs371044809
|
0.00003
|
NM_000051.4(ATM):c.6453-15C>A
|
rs763296454
|
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.6807+20A>G
|
rs369001797
|
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.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
NM_000051.4(ATM):c.7927+10T>C
|
rs730881277
|
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.8152-6C>T
|
rs200389039
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000051.4(ATM):c.8419-16_8419-13del
|
rs774275044
|
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.8785A>C (p.Arg2929=)
|
rs1013290424
|
0.00003
|
NM_000051.4(ATM):c.8851-19A>G
|
rs772496794
|
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.5817A>G (p.Leu1939=)
|
rs749652134
|
0.00002
|
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.6199-18_6199-15del
|
rs777036353
|
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.6573-17dup
|
rs1565517900
|
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.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
NM_000051.4(ATM):c.7515+20A>G
|
rs80124497
|
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.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.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
NM_000051.4(ATM):c.8151+11C>T
|
rs555381912
|
0.00002
|
NM_000051.4(ATM):c.8151+8T>C
|
rs768069197
|
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.8268+6T>A
|
rs747153940
|
0.00002
|
NM_000051.4(ATM):c.8269-16T>C
|
rs375051442
|
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.8671+18T>C
|
rs763189977
|
0.00002
|
NM_000051.4(ATM):c.8786+11T>C
|
rs368627124
|
0.00002
|
NM_000051.4(ATM):c.8786+12G>A
|
rs767836309
|
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.*13G>C
|
rs1296955906
|
0.00001
|
NM_000051.4(ATM):c.*17T>G
|
rs746451875
|
0.00001
|
NM_000051.4(ATM):c.*20C>T
|
rs768241804
|
0.00001
|
NM_000051.4(ATM):c.5763-19A>G
|
rs967402817
|
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.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.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
NM_000051.4(ATM):c.5918+7G>A
|
rs1423323603
|
0.00001
|
NM_000051.4(ATM):c.5919-8A>G
|
rs1176654682
|
0.00001
|
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)
|
rs780867575
|
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.5994A>T (p.Gly1998=)
|
rs56046250
|
0.00001
|
NM_000051.4(ATM):c.6006+11G>A
|
rs1466545116
|
0.00001
|
NM_000051.4(ATM):c.6006+13G>C
|
rs368207631
|
0.00001
|
NM_000051.4(ATM):c.6006+17C>G
|
rs1218097012
|
0.00001
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
0.00001
|
NM_000051.4(ATM):c.6007-10A>G
|
rs373395916
|
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.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+5A>G
|
rs757328753
|
0.00001
|
NM_000051.4(ATM):c.6095+8G>T
|
rs547072690
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
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.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.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.6336C>T (p.Cys2112=)
|
rs755845798
|
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.6367A>G (p.Ser2123Gly)
|
rs876659773
|
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.6452+13G>A
|
rs760228732
|
0.00001
|
NM_000051.4(ATM):c.6452+21_6452+22dup
|
rs756886791
|
0.00001
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
NM_000051.4(ATM):c.6453-17T>G
|
rs1057522251
|
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.6507C>G (p.Leu2169=)
|
rs863224295
|
0.00001
|
NM_000051.4(ATM):c.6516A>G (p.Thr2172=)
|
rs576254168
|
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.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.6736T>G (p.Cys2246Gly)
|
rs767070729
|
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.6759A>C (p.Lys2253Asn)
|
rs1060501602
|
0.00001
|
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)
|
rs1365474284
|
0.00001
|
NM_000051.4(ATM):c.6807+10A>G
|
rs924117395
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.6808-13A>G
|
rs1410228904
|
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.6848C>T (p.Ser2283Leu)
|
rs876660730
|
0.00001
|
NM_000051.4(ATM):c.6868G>A (p.Glu2290Lys)
|
rs1479339581
|
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.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.6975+7T>A
|
rs754834282
|
0.00001
|
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile)
|
rs761587154
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met)
|
rs757293178
|
0.00001
|
NM_000051.4(ATM):c.7089+20C>T
|
rs730881275
|
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.7134G>A (p.Glu2378=)
|
rs376185463
|
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.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.7221A>G (p.Ser2407=)
|
rs786201881
|
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+18A>C
|
rs777909508
|
0.00001
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
NM_000051.4(ATM):c.7308-10T>G
|
rs745319720
|
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.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.7399G>A (p.Val2467Ile)
|
rs769722643
|
0.00001
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala)
|
rs754245181
|
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.7516-15T>G
|
rs1400642000
|
0.00001
|
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)
|
rs754395517
|
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.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys)
|
rs774312539
|
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.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+12T>C
|
rs373731708
|
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.7630-12C>G
|
rs911541230
|
0.00001
|
NM_000051.4(ATM):c.7630-15G>T
|
rs773603597
|
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.7664A>G (p.His2555Arg)
|
rs876658925
|
0.00001
|
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val)
|
rs1208002418
|
0.00001
|
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)
|
rs750224234
|
0.00001
|
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)
|
rs781215442
|
0.00001
|
NM_000051.4(ATM):c.7788+20G>A
|
rs775245736
|
0.00001
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
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.7843C>G (p.Gln2615Glu)
|
rs773159296
|
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.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.7927+13T>A
|
rs748853277
|
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.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.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
NM_000051.4(ATM):c.8011-18T>C
|
rs768522292
|
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.8072G>A (p.Arg2691His)
|
rs876658385
|
0.00001
|
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)
|
rs201689025
|
0.00001
|
NM_000051.4(ATM):c.8151+17C>G
|
rs761029795
|
0.00001
|
NM_000051.4(ATM):c.8152-17G>A
|
rs368924012
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)
|
rs367575159
|
0.00001
|
NM_000051.4(ATM):c.8199G>A (p.Gln2733=)
|
rs770552705
|
0.00001
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
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.8254A>G (p.Ile2752Val)
|
rs1215163673
|
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.8268+11G>A
|
rs769204788
|
0.00001
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
NM_000051.4(ATM):c.8268+18T>C
|
rs1555128701
|
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.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.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
NM_000051.4(ATM):c.8400G>C (p.Gln2800His)
|
rs879253901
|
0.00001
|
NM_000051.4(ATM):c.8418+11C>A
|
rs1277361086
|
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.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.8572A>G (p.Thr2858Ala)
|
rs749193688
|
0.00001
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
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.8584+6C>G
|
rs863224300
|
0.00001
|
NM_000051.4(ATM):c.8585-4C>A
|
rs1555139447
|
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.8617G>A (p.Val2873Ile)
|
rs730881327
|
0.00001
|
NM_000051.4(ATM):c.8624A>C (p.Asn2875Thr)
|
rs587782451
|
0.00001
|
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly)
|
rs876658236
|
0.00001
|
NM_000051.4(ATM):c.8671+17A>G
|
rs765608446
|
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.8716G>A (p.Val2906Ile)
|
rs587780643
|
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.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.8787-15T>C
|
rs1057521788
|
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+10T>C
|
rs762487236
|
0.00001
|
NM_000051.4(ATM):c.8850+17G>A
|
rs1027667991
|
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.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.8948C>A (p.Thr2983Asn)
|
rs1472935232
|
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.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg)
|
rs1064793579
|
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.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.*16T>G
|
rs1362987304
|
|
NM_000051.4(ATM):c.*19C>T
|
rs1338371572
|
|
NM_000051.4(ATM):c.*9del
|
rs1565609967
|
|
NM_000051.4(ATM):c.5763-13C>G
|
rs1057522554
|
|
NM_000051.4(ATM):c.5763-13C>T
|
rs1057522554
|
|
NM_000051.4(ATM):c.5763-17_5763-16del
|
rs1064793040
|
|
NM_000051.4(ATM):c.5763-20_5763-18del
|
rs777468149
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
NM_000051.4(ATM):c.5763A>G (p.Arg1921=)
|
rs1057523784
|
|
NM_000051.4(ATM):c.5765C>A (p.Pro1922His)
|
rs751792004
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)
|
|
|
NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg)
|
rs1591745423
|
|
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.5776_5790del (p.Thr1926_Asp1930del)
|
rs786203678
|
|
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.5789A>G (p.Asp1930Gly)
|
rs2084024488
|
|
NM_000051.4(ATM):c.5790T>C (p.Asp1930=)
|
rs1555110279
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser)
|
rs1555110330
|
|
NM_000051.4(ATM):c.5816T>A (p.Leu1939Gln)
|
rs1555110340
|
|
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp)
|
rs2084028240
|
|
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly)
|
rs876660334
|
|
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr)
|
rs1555110399
|
|
NM_000051.4(ATM):c.5841T>C (p.Ser1947=)
|
rs2084031312
|
|
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr)
|
rs1591746066
|
|
NM_000051.4(ATM):c.5853C>T (p.His1951=)
|
rs376169886
|
|
NM_000051.4(ATM):c.5853del (p.Phe1952fs)
|
rs1555110418
|
|
NM_000051.4(ATM):c.5856T>C (p.Phe1952=)
|
rs864622297
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5859A>G (p.Thr1953=)
|
rs1555110429
|
|
NM_000051.4(ATM):c.5860G>C (p.Ala1954Pro)
|
rs1591746248
|
|
NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly)
|
rs1565489916
|
|
NM_000051.4(ATM):c.5866C>G (p.Leu1956Val)
|
rs1565489956
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
NM_000051.4(ATM):c.5867T>A (p.Leu1956His)
|
rs876658989
|
|
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val)
|
rs2136017305
|
|
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)
|
rs876660515
|
|
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.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn)
|
rs1565490147
|
|
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)
|
rs1555110520
|
|
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.5917A>C (p.Arg1973=)
|
rs786202089
|
|
NM_000051.4(ATM):c.5918+12T>C
|
rs2084042843
|
|
NM_000051.4(ATM):c.5918+16A>G
|
rs3092911
|
|
NM_000051.4(ATM):c.5918+8A>C
|
rs1401825950
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.5919-10T>C
|
rs1565493312
|
|
NM_000051.4(ATM):c.5919-11G>A
|
rs1555111746
|
|
NM_000051.4(ATM):c.5919-13T>C
|
rs1555111740
|
|
NM_000051.4(ATM):c.5919-18T>G
|
rs113087586
|
|
NM_000051.4(ATM):c.5919-1del
|
rs2084240759
|
|
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.5931del (p.Phe1977fs)
|
rs1565493368
|
|
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)
|
rs1060501603
|
|
NM_000051.4(ATM):c.5951C>T (p.Thr1984Ile)
|
|
|
NM_000051.4(ATM):c.5955T>C (p.Thr1985=)
|
rs1555111801
|
|
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)
|
rs876660935
|
|
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.5967G>A (p.Leu1989=)
|
rs1555111833
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)
|
rs587782274
|
|
NM_000051.4(ATM):c.5973A>G (p.Glu1991=)
|
rs587782274
|
|
NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg)
|
rs150757822
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter)
|
rs1565493693
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5982dup (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys)
|
rs1555111886
|
|
NM_000051.4(ATM):c.5987A>G (p.Glu1996Gly)
|
rs1264932751
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
NM_000051.4(ATM):c.6006+11G>C
|
rs1466545116
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+4_6006+5del
|
rs879254108
|
|
NM_000051.4(ATM):c.6006+6T>C
|
rs1565493858
|
|
NM_000051.4(ATM):c.6007-18T>C
|
rs2084580593
|
|
NM_000051.4(ATM):c.6007-5T>C
|
rs863224294
|
|
NM_000051.4(ATM):c.6007-9T>C
|
rs1591776333
|
|
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn)
|
rs730881378
|
|
NM_000051.4(ATM):c.6007_6029dup
|
|
|
NM_000051.4(ATM):c.6007delG (p.Asp2003fs)
|
rs1555113505
|
|
NM_000051.4(ATM):c.6009T>G (p.Asp2003Glu)
|
rs878853526
|
|
NM_000051.4(ATM):c.6010C>T (p.Leu2004Phe)
|
rs1060501561
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
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.6044_6046delinsTTATACTTCTCTTAGAAATCTACAGAAGT (p.Pro2015fs)
|
rs1565498886
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His)
|
rs1591776885
|
|
NM_000051.4(ATM):c.6080del (p.Leu2027fs)
|
rs1060501548
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6085C>T (p.Pro2029Ser)
|
rs2136121608
|
|
NM_000051.4(ATM):c.6087C>G (p.Pro2029=)
|
rs1060504316
|
|
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)
|
rs1060504316
|
|
NM_000051.4(ATM):c.6088A>C (p.Ile2030Leu)
|
rs145847315
|
|
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile)
|
rs1555113613
|
|
NM_000051.4(ATM):c.6093T>G (p.Thr2031=)
|
|
|
NM_000051.4(ATM):c.6095+5del
|
rs1555113628
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
NM_000051.4(ATM):c.6096-12C>A
|
rs781200134
|
|
NM_000051.4(ATM):c.6096-20T>C
|
rs746766702
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
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.6105A>T (p.Thr2035=)
|
rs1555113708
|
|
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.6119C>T (p.Ala2040Val)
|
rs1299506506
|
|
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val)
|
rs753384717
|
|
NM_000051.4(ATM):c.6144A>G (p.Thr2048=)
|
rs1201081443
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
NM_000051.4(ATM):c.6153C>G (p.Leu2051=)
|
rs876658452
|
|
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly)
|
rs1591779138
|
|
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu)
|
rs1565499875
|
|
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala)
|
rs1329479941
|
|
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser)
|
rs587778078
|
|
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.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)
|
rs2136132184
|
|
NM_000051.4(ATM):c.6188G>C (p.Gly2063Ala)
|
rs866290641
|
|
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>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)
|
rs786203341
|
|
NM_000051.4(ATM):c.6199-20_6199-15del
|
rs1360645587
|
|
NM_000051.4(ATM):c.6199-3del
|
rs762251357
|
|
NM_000051.4(ATM):c.6199-5T>A
|
rs1555114533
|
|
NM_000051.4(ATM):c.6199G>A (p.Ala2067Thr)
|
rs1555114549
|
|
NM_000051.4(ATM):c.6199G>T (p.Ala2067Ser)
|
rs1555114549
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6211T>C (p.Leu2071=)
|
rs928129862
|
|
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg)
|
rs1555114568
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6224A>G (p.His2075Arg)
|
rs1555114602
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe)
|
rs786204173
|
|
NM_000051.4(ATM):c.6235G>C (p.Val2079Leu)
|
|
|
NM_000051.4(ATM):c.6237_6238del (p.Tyr2080fs)
|
rs1555114623
|
|
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)
|
rs587779855
|
|
NM_000051.4(ATM):c.6242del (p.Tyr2080_Leu2081insTer)
|
rs2084779727
|
|
NM_000051.4(ATM):c.6252G>A (p.Leu2084=)
|
rs876658700
|
|
NM_000051.4(ATM):c.6253G>T (p.Asp2085Tyr)
|
rs730881379
|
|
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys)
|
rs730881380
|
|
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=)
|
rs1565502999
|
|
NM_000051.4(ATM):c.6258T>G (p.Tyr2086Ter)
|
rs1565502999
|
|
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly)
|
rs1565503023
|
|
NM_000051.4(ATM):c.6262A>G (p.Asn2088Asp)
|
rs1205444700
|
|
NM_000051.4(ATM):c.6264T>C (p.Asn2088=)
|
rs747372417
|
|
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn)
|
rs915524411
|
|
NM_000051.4(ATM):c.6270C>A (p.Asp2090Glu)
|
rs1565503097
|
|
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6283C>G (p.Leu2095Val)
|
rs2084785926
|
|
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.6287A>G (p.Glu2096Gly)
|
rs1565503246
|
|
NM_000051.4(ATM):c.6289G>C (p.Glu2097Gln)
|
rs1555114737
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
NM_000051.4(ATM):c.6293_6295del (p.Leu2098del)
|
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
NM_000051.4(ATM):c.6301C>A (p.Gln2101Lys)
|
rs876660164
|
|
NM_000051.4(ATM):c.6304G>A (p.Ala2102Thr)
|
rs1565503340
|
|
NM_000051.4(ATM):c.6310T>C (p.Trp2104Arg)
|
|
|
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile)
|
rs587780633
|
|
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr)
|
rs1555114792
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
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.6325T>G (p.Trp2109Gly)
|
rs1060501654
|
|
NM_000051.4(ATM):c.6328G>C (p.Asp2110His)
|
rs2136169784
|
|
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)
|
rs759029705
|
|
NM_000051.4(ATM):c.6331C>T (p.His2111Tyr)
|
|
|
NM_000051.4(ATM):c.6332A>C (p.His2111Pro)
|
rs876658300
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
|
|
|
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu)
|
rs587780634
|
|
NM_000051.4(ATM):c.6347+17G>C
|
rs1263673522
|
|
NM_000051.4(ATM):c.6347+18del
|
rs2084796948
|
|
NM_000051.4(ATM):c.6347+31del
|
rs58978479
|
|
NM_000051.4(ATM):c.6348-11T>G
|
rs1555116339
|
|
NM_000051.4(ATM):c.6348-12C>T
|
rs1057521664
|
|
NM_000051.4(ATM):c.6348-3_6348-2del
|
rs1565508595
|
|
NM_000051.4(ATM):c.6348-7C>G
|
rs2085074288
|
|
NM_000051.4(ATM):c.6348-8T>G
|
rs730881292
|
|
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>T (p.Val2119=)
|
rs1060504295
|
|
NM_000051.4(ATM):c.6366C>T (p.Thr2122=)
|
|
|
NM_000051.4(ATM):c.6374A>T (p.His2125Leu)
|
rs730881381
|
|
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)
|
rs1060504297
|
|
NM_000051.4(ATM):c.6380C>T (p.Ser2127Leu)
|
rs2136219729
|
|
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.6389A>G (p.Asn2130Ser)
|
rs2136220181
|
|
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)
|
rs1060501594
|
|
NM_000051.4(ATM):c.6399A>G (p.Gln2133=)
|
rs750614487
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)
|
rs758446561
|
|
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs)
|
rs2085083193
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6405A>G (p.Leu2135=)
|
rs2085084061
|
|
NM_000051.4(ATM):c.6409G>C (p.Asp2137His)
|
rs1389038955
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu)
|
rs1397647612
|
|
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala)
|
rs1263398076
|
|
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys)
|
rs1555116507
|
|
NM_000051.4(ATM):c.6434A>C (p.Glu2145Ala)
|
rs1255710647
|
|
NM_000051.4(ATM):c.6441C>T (p.Leu2147=)
|
rs1292833282
|
|
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr)
|
rs730881382
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
NM_000051.4(ATM):c.6448G>A (p.Ala2150Thr)
|
rs1591100678
|
|
NM_000051.4(ATM):c.6452+13_6452+17delinsAAT
|
rs2085091650
|
|
NM_000051.4(ATM):c.6452+17A>T
|
rs371044809
|
|
NM_000051.4(ATM):c.6452+6A>T
|
rs878853531
|
|
NM_000051.4(ATM):c.6452+7T>C
|
rs1555116551
|
|
NM_000051.4(ATM):c.6453-13T>C
|
rs1555117056
|
|
NM_000051.4(ATM):c.6453-14T>A
|
rs1380071831
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
NM_000051.4(ATM):c.6453-3T>A
|
rs768073845
|
|
NM_000051.4(ATM):c.6453-8G>C
|
rs751665578
|
|
NM_000051.4(ATM):c.6457A>C (p.Lys2153Gln)
|
rs1386239935
|
|
NM_000051.4(ATM):c.6471G>A (p.Glu2157=)
|
rs1555117097
|
|
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr)
|
rs1453101465
|
|
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp)
|
rs587781789
|
|
NM_000051.4(ATM):c.6480G>A (p.Lys2160=)
|
rs2136239159
|
|
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys)
|
rs1317619286
|
|
NM_000051.4(ATM):c.6498G>A (p.Val2166=)
|
rs746514937
|
|
NM_000051.4(ATM):c.6506T>G (p.Leu2169Arg)
|
rs748054311
|
|
NM_000051.4(ATM):c.6516A>C (p.Thr2172=)
|
rs576254168
|
|
NM_000051.4(ATM):c.6519T>C (p.Leu2173=)
|
|
|
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg)
|
rs772850740
|
|
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp)
|
rs1555117194
|
|
NM_000051.4(ATM):c.6545T>C (p.Leu2182Pro)
|
rs1555117233
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
|
NM_000051.4(ATM):c.6554T>A (p.Ile2185Asn)
|
rs779611511
|
|
NM_000051.4(ATM):c.6557_6559del (p.Gly2186del)
|
rs1555117257
|
|
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile)
|
rs1060501682
|
|
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly)
|
rs587781861
|
|
NM_000051.4(ATM):c.6572+12G>A
|
rs3218677
|
|
NM_000051.4(ATM):c.6572+12del
|
rs1555117290
|
|
NM_000051.4(ATM):c.6572+17A>C
|
rs1555117296
|
|
NM_000051.4(ATM):c.6572+1G>T
|
rs587779856
|
|
NM_000051.4(ATM):c.6572+6T>C
|
rs2085208105
|
|
NM_000051.4(ATM):c.6573-11G>A
|
rs375599653
|
|
NM_000051.4(ATM):c.6573-12C>T
|
rs1057521666
|
|
NM_000051.4(ATM):c.6573-13T>C
|
rs530565990
|
|
NM_000051.4(ATM):c.6573-16_6573-15del
|
rs1064794351
|
|
NM_000051.4(ATM):c.6573-23_6573-5del
|
|
|
NM_000051.4(ATM):c.6573A>G (p.Arg2191=)
|
rs1565518004
|
|
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile)
|
rs754555043
|
|
NM_000051.4(ATM):c.6581C>T (p.Thr2194Ile)
|
rs1476384636
|
|
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)
|
rs780946471
|
|
NM_000051.4(ATM):c.6584A>G (p.His2195Arg)
|
rs1565518051
|
|
NM_000051.4(ATM):c.6585T>C (p.His2195=)
|
rs786203401
|
|
NM_000051.4(ATM):c.6590A>C (p.Gln2197Pro)
|
rs1412850323
|
|
NM_000051.4(ATM):c.6591A>G (p.Gln2197=)
|
rs863224296
|
|
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.6606T>C (p.Tyr2202=)
|
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.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
NM_000051.4(ATM):c.6627C>G (p.Ser2209=)
|
rs2085556098
|
|
NM_000051.4(ATM):c.6645T>C (p.Ser2215=)
|
|
|
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg)
|
rs1064794485
|
|
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)
|
|
|
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys)
|
rs1591128898
|
|
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val)
|
rs1028293945
|
|
NM_000051.4(ATM):c.6676C>T (p.Leu2226=)
|
rs745709682
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
NM_000051.4(ATM):c.6680G>C (p.Arg2227Pro)
|
|
|
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp)
|
rs1555119144
|
|
NM_000051.4(ATM):c.6687C>T (p.Val2229=)
|
rs1442555144
|
|
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)
|
rs587781562
|
|
NM_000051.4(ATM):c.6718G>A (p.Asp2240Asn)
|
rs587782478
|
|
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)
|
rs587782478
|
|
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.6727C>A (p.Gln2243Lys)
|
rs1565518711
|
|
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro)
|
rs1565518723
|
|
NM_000051.4(ATM):c.6733G>C (p.Glu2245Gln)
|
rs2085572299
|
|
NM_000051.4(ATM):c.6734A>G (p.Glu2245Gly)
|
rs1555119214
|
|
NM_000051.4(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis)
|
rs1064794237
|
|
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.6743dup (p.Asp2249fs)
|
rs2085573796
|
|
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr)
|
rs1555119235
|
|
NM_000051.4(ATM):c.6749T>G (p.Ile2250Ser)
|
|
|
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser)
|
rs755531586
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
NM_000051.4(ATM):c.6762C>T (p.His2254=)
|
rs563933875
|
|
NM_000051.4(ATM):c.6765T>C (p.Leu2255=)
|
rs587780637
|
|
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys)
|
rs786202094
|
|
NM_000051.4(ATM):c.6785C>G (p.Ala2262Gly)
|
rs876660017
|
|
NM_000051.4(ATM):c.6792T>A (p.Thr2264=)
|
rs1555119347
|
|
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys)
|
rs1179172483
|
|
NM_000051.4(ATM):c.6802_6807del (p.Thr2268_Gln2269del)
|
rs2136319161
|
|
NM_000051.4(ATM):c.6803C>G (p.Thr2268Ser)
|
rs2085584695
|
|
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
|
rs2085584895
|
|
NM_000051.4(ATM):c.6807+20_6807+21del
|
rs1555119392
|
|
NM_000051.4(ATM):c.6807+8C>A
|
rs1565519254
|
|
NM_000051.4(ATM):c.6807+8del
|
rs1555119385
|
|
NM_000051.4(ATM):c.6808-14C>T
|
rs932081789
|
|
NM_000051.4(ATM):c.6808-18A>T
|
rs1166582977
|
|
NM_000051.4(ATM):c.6808-1G>C
|
rs2085644916
|
|
NM_000051.4(ATM):c.6808-6T>C
|
rs995574419
|
|
NM_000051.4(ATM):c.6808-7A>G
|
rs2085644108
|
|
NM_000051.4(ATM):c.6810C>T (p.Leu2270=)
|
rs1060504305
|
|
NM_000051.4(ATM):c.6815A>G (p.Glu2272Gly)
|
rs1565520129
|
|
NM_000051.4(ATM):c.6816A>G (p.Glu2272=)
|
rs1555119726
|
|
NM_000051.4(ATM):c.6818G>A (p.Arg2273Lys)
|
rs2136331491
|
|
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.6831A>G (p.Gln2277=)
|
rs1339794219
|
|
NM_000051.4(ATM):c.6831A>T (p.Gln2277His)
|
rs1339794219
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His)
|
rs1291249685
|
|
NM_000051.4(ATM):c.6844A>G (p.Asn2282Asp)
|
rs951881516
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6867_6868dup (p.Glu2290fs)
|
rs2085653871
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
NM_000051.4(ATM):c.6871T>C (p.Trp2291Arg)
|
rs746815819
|
|
NM_000051.4(ATM):c.6873G>C (p.Trp2291Cys)
|
rs2136334606
|
|
NM_000051.4(ATM):c.6885A>G (p.Glu2295=)
|
rs748221367
|
|
NM_000051.4(ATM):c.6889C>G (p.Gln2297Glu)
|
rs1565520537
|
|
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)
|
rs773545588
|
|
NM_000051.4(ATM):c.6898T>C (p.Trp2300Arg)
|
rs1565520641
|
|
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.6908A>C (p.Lys2303Thr)
|
rs1064795166
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6914A>G (p.Gln2305Arg)
|
rs2136336746
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6918T>C (p.Ser2306=)
|
rs1555119959
|
|
NM_000051.4(ATM):c.6921T>G (p.Leu2307=)
|
rs1555119966
|
|
NM_000051.4(ATM):c.6924C>T (p.Ala2308=)
|
rs759878732
|
|
NM_000051.4(ATM):c.6927G>A (p.Leu2309=)
|
rs876660429
|
|
NM_000051.4(ATM):c.6929_6952del (p.Ser2310_Lys2317del)
|
|
|
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile)
|
rs1555120014
|
|
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln)
|
rs1449259481
|
|
NM_000051.4(ATM):c.6957G>A (p.Leu2319=)
|
rs2085667000
|
|
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly)
|
rs1060501640
|
|
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr)
|
rs876660924
|
|
NM_000051.4(ATM):c.6975+13del
|
rs763287238
|
|
NM_000051.4(ATM):c.6975+13dup
|
rs763287238
|
|
NM_000051.4(ATM):c.6975+14dup
|
rs1555120120
|
|
NM_000051.4(ATM):c.6975+16T>C
|
rs1555120123
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
NM_000051.4(ATM):c.6975+3T>G
|
rs2085670503
|
|
NM_000051.4(ATM):c.6975+6T>C
|
rs1169579742
|
|
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.6975G>T (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6976-11T>C
|
rs1565523441
|
|
NM_000051.4(ATM):c.6976-19T>C
|
rs1026199027
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)
|
rs1591142078
|
|
NM_000051.4(ATM):c.6990A>G (p.Leu2330=)
|
rs2136373497
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
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.7005A>G (p.Thr2335=)
|
rs1555120978
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
NM_000051.4(ATM):c.7014G>C (p.Leu2338=)
|
rs1555120999
|
|
NM_000051.4(ATM):c.7017G>C (p.Arg2339Ser)
|
|
|
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile)
|
rs876659429
|
|
NM_000051.4(ATM):c.7018G>T (p.Val2340Phe)
|
rs876659429
|
|
NM_000051.4(ATM):c.7022delinsTT (p.Cys2341fs)
|
|
|
NM_000051.4(ATM):c.7026C>G (p.Gly2342=)
|
rs2085817001
|
|
NM_000051.4(ATM):c.7035_7036del (p.Leu2345fs)
|
|
|
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr)
|
rs144497088
|
|
NM_000051.4(ATM):c.7038A>G (p.Ala2346=)
|
rs146167034
|
|
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met)
|
rs866740291
|
|
NM_000051.4(ATM):c.7047C>A (p.Cys2349Ter)
|
|
|
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.7066A>G (p.Ile2356Val)
|
rs876658517
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile)
|
rs753951063
|
|
NM_000051.4(ATM):c.7073A>G (p.Gln2358Arg)
|
rs2085824286
|
|
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His)
|
rs587779860
|
|
NM_000051.4(ATM):c.7079A>C (p.Tyr2360Ser)
|
rs1555121141
|
|
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.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.7089+2T>G
|
rs1057516235
|
|
NM_000051.4(ATM):c.7089+3A>G
|
rs1565524203
|
|
NM_000051.4(ATM):c.7089+5G>A
|
rs1351209504
|
|
NM_000051.4(ATM):c.7090-14G>A
|
rs1486032156
|
|
NM_000051.4(ATM):c.7090-17G>C
|
rs1555121895
|
|
NM_000051.4(ATM):c.7090-17G>T
|
rs1555121895
|
|
NM_000051.4(ATM):c.7090-7C>T
|
rs774223576
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile)
|
rs1060501647
|
|
NM_000051.4(ATM):c.7103C>A (p.Ala2368Asp)
|
|
|
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu)
|
rs2085974792
|
|
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp)
|
rs1555121956
|
|
NM_000051.4(ATM):c.7112A>T (p.Tyr2371Phe)
|
rs1565526394
|
|
NM_000051.4(ATM):c.7115A>T (p.Asp2372Val)
|
rs2085976203
|
|
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala)
|
rs587782225
|
|
NM_000051.4(ATM):c.7129G>A (p.Asp2377Asn)
|
rs1555122008
|
|
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.7151T>C (p.Met2384Thr)
|
rs1215010771
|
|
NM_000051.4(ATM):c.7155G>T (p.Lys2385Asn)
|
|
|
NM_000051.4(ATM):c.7161T>C (p.Phe2387=)
|
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu)
|
rs1018140779
|
|
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>T (p.Ser2394=)
|
rs976994998
|
|
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val)
|
rs1555122090
|
|
NM_000051.4(ATM):c.7198A>C (p.Arg2400=)
|
rs777423778
|
|
NM_000051.4(ATM):c.7199G>C (p.Arg2400Thr)
|
rs567457294
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
NM_000051.4(ATM):c.7215G>A (p.Met2405Ile)
|
rs879254179
|
|
NM_000051.4(ATM):c.7216_7217insTA (p.Lys2406fs)
|
|
|
NM_000051.4(ATM):c.7218A>G (p.Lys2406=)
|
rs1321705346
|
|
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.7221A>T (p.Ser2407=)
|
rs786201881
|
|
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)
|
rs730881315
|
|
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)
|
rs758351633
|
|
NM_000051.4(ATM):c.7230T>A (p.Phe2410Leu)
|
rs1565527030
|
|
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.7239G>A (p.Lys2413=)
|
rs1555122182
|
|
NM_000051.4(ATM):c.7239G>T (p.Lys2413Asn)
|
rs1555122182
|
|
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val)
|
rs370567994
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)
|
rs758614348
|
|
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp)
|
rs864622471
|
|
NM_000051.4(ATM):c.7275T>G (p.Gly2425=)
|
rs2136422273
|
|
NM_000051.4(ATM):c.7280T>C (p.Leu2427Pro)
|
rs1555122272
|
|
NM_000051.4(ATM):c.7280T>G (p.Leu2427Arg)
|
rs1555122272
|
|
NM_000051.4(ATM):c.7282_7283insAA (p.Arg2428fs)
|
rs2136422828
|
|
NM_000051.4(ATM):c.7290T>G (p.His2430Gln)
|
rs876658715
|
|
NM_000051.4(ATM):c.7307+1_7307+3dup
|
rs1565527496
|
|
NM_000051.4(ATM):c.7307+2dup
|
rs2086004268
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000051.4(ATM):c.7308-10T>C
|
rs745319720
|
|
NM_000051.4(ATM):c.7308-10dup
|
rs1555122910
|
|
NM_000051.4(ATM):c.7308-11T>C
|
rs1565529149
|
|
NM_000051.4(ATM):c.7308-5G>A
|
rs2086108867
|
|
NM_000051.4(ATM):c.7308-7A>G
|
rs1476284330
|
|
NM_000051.4(ATM):c.7308-7A>T
|
rs1476284330
|
|
NM_000051.4(ATM):c.7308-8T>C
|
rs1555122924
|
|
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser)
|
rs730881317
|
|
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=)
|
rs763470424
|
|
NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro)
|
rs1565529248
|
|
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu)
|
rs1565529306
|
|
NM_000051.4(ATM):c.7325A>G (p.Gln2442Arg)
|
rs1591159790
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7328G>C (p.Arg2443Pro)
|
rs587782310
|
|
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp)
|
rs876658886
|
|
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)
|
rs1555122998
|
|
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.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7365G>C (p.Leu2455=)
|
rs756506590
|
|
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)
|
rs778482902
|
|
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val)
|
rs879254201
|
|
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.7401T>G (p.Val2467=)
|
rs1565529761
|
|
NM_000051.4(ATM):c.7407T>C (p.Asn2469=)
|
rs1555123133
|
|
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe)
|
rs878853544
|
|
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg)
|
rs778550056
|
|
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.7445_7446delinsCT (p.Met2482Thr)
|
rs1565529987
|
|
NM_000051.4(ATM):c.7464T>C (p.Cys2488=)
|
rs1555123227
|
|
NM_000051.4(ATM):c.7467C>T (p.Ser2489=)
|
rs767846264
|
|
NM_000051.4(ATM):c.7470C>G (p.Leu2490=)
|
rs1057521604
|
|
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu)
|
rs764478418
|
|
NM_000051.4(ATM):c.7487G>C (p.Gly2496Ala)
|
rs764478418
|
|
NM_000051.4(ATM):c.7491T>C (p.Val2497=)
|
rs2086134307
|
|
NM_000051.4(ATM):c.7494T>G (p.Ser2498=)
|
rs34393781
|
|
NM_000051.4(ATM):c.7498G>A (p.Val2500Ile)
|
rs1555123294
|
|
NM_000051.4(ATM):c.7500C>T (p.Val2500=)
|
rs1060504286
|
|
NM_000051.4(ATM):c.7505G>A (p.Gly2502Asp)
|
rs754517317
|
|
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr)
|
rs1060501644
|
|
NM_000051.4(ATM):c.7515+19A>T
|
rs879254202
|
|
NM_000051.4(ATM):c.7515+9T>G
|
rs1465593444
|
|
NM_000051.4(ATM):c.7516-16T>C
|
rs2086218796
|
|
NM_000051.4(ATM):c.7516-5G>C
|
rs1057520837
|
|
NM_000051.4(ATM):c.7516-9T>A
|
rs2086219990
|
|
NM_000051.4(ATM):c.7516-9del
|
rs573494809
|
|
NM_000051.4(ATM):c.7516-9dup
|
rs573494809
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu)
|
rs751234924
|
|
NM_000051.4(ATM):c.7526T>G (p.Met2509Arg)
|
rs2136491479
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys)
|
rs876660422
|
|
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
|
|
|
NM_000051.4(ATM):c.7567T>C (p.Leu2523=)
|
rs1565532289
|
|
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)
|
rs769142993
|
|
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr)
|
rs876659323
|
|
NM_000051.4(ATM):c.7586C>T (p.Thr2529Ile)
|
|
|
NM_000051.4(ATM):c.7587C>T (p.Thr2529=)
|
rs890244103
|
|
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile)
|
rs587781854
|
|
NM_000051.4(ATM):c.7600G>C (p.Gly2534Arg)
|
rs1555124094
|
|
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.7629+12_7629+15del
|
rs1555124156
|
|
NM_000051.4(ATM):c.7629+13G>A
|
rs563651647
|
|
NM_000051.4(ATM):c.7629+3A>C
|
rs752251778
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-17T>G
|
rs116047570
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
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>T (p.Arg2547Ile)
|
rs2136515485
|
|
NM_000051.4(ATM):c.7647A>G (p.Ser2549=)
|
|
|
NM_000051.4(ATM):c.7647A>T (p.Ser2549=)
|
rs1591171175
|
|
NM_000051.4(ATM):c.7649T>A (p.Met2550Lys)
|
|
|
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly)
|
rs1565533613
|
|
NM_000051.4(ATM):c.7658C>G (p.Pro2553Arg)
|
rs864622368
|
|
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu)
|
rs864622368
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7695T>C (p.Asn2565=)
|
rs2086296795
|
|
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr)
|
rs1060501604
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser)
|
rs1555124612
|
|
NM_000051.4(ATM):c.7718C>G (p.Thr2573Ser)
|
rs1565534068
|
|
NM_000051.4(ATM):c.7728G>A (p.Glu2576=)
|
|
|
NM_000051.4(ATM):c.7729del (p.Glu2576_Val2577insTer)
|
rs2086303574
|
|
NM_000051.4(ATM):c.7734C>G (p.Ala2578=)
|
rs753442840
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7767A>G (p.Lys2589=)
|
rs2086311025
|
|
NM_000051.4(ATM):c.7773C>T (p.Ser2591=)
|
rs1045232065
|
|
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+10T>G
|
rs1555124759
|
|
NM_000051.4(ATM):c.7788+12A>T
|
rs1555124760
|
|
NM_000051.4(ATM):c.7788+19C>G
|
rs201990371
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-14T>G
|
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7789-7T>G
|
|
|
NM_000051.4(ATM):c.7789-8A>G
|
rs1591177900
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7793G>T (p.Arg2598Leu)
|
rs140263969
|
|
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser)
|
rs1484346818
|
|
NM_000051.4(ATM):c.7813A>G (p.Ile2605Val)
|
rs2086407468
|
|
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>A (p.Cys2607Ser)
|
|
|
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>C (p.Ile2609Thr)
|
rs369846067
|
|
NM_000051.4(ATM):c.7827C>T (p.Ile2609=)
|
rs768423205
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
NM_000051.4(ATM):c.7830A>T (p.Arg2610Ser)
|
|
|
NM_000051.4(ATM):c.7834A>C (p.Arg2612=)
|
rs1305691166
|
|
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser)
|
rs1555125305
|
|
NM_000051.4(ATM):c.7849G>T (p.Val2617Phe)
|
rs1555125331
|
|
NM_000051.4(ATM):c.7849_7857delinsAGGTCTCCTTTGAGTGCCTCA (p.Val2617_Arg2618delinsArgSerProLeuSerAla)
|
rs2086415356
|
|
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)
|
rs1427723678
|
|
NM_000051.4(ATM):c.7860T>G (p.Val2620=)
|
rs1555125353
|
|
NM_000051.4(ATM):c.7866A>G (p.Ala2622=)
|
|
|
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile)
|
rs774118570
|
|
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)
|
rs774118570
|
|
NM_000051.4(ATM):c.7869T>C (p.Leu2623=)
|
rs1565536371
|
|
NM_000051.4(ATM):c.7872T>C (p.Cys2624=)
|
|
|
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala)
|
rs876660121
|
|
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.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met)
|
rs752886000
|
|
NM_000051.4(ATM):c.7893A>G (p.Ala2631=)
|
rs2086426128
|
|
NM_000051.4(ATM):c.7899A>G (p.Leu2633=)
|
rs2086426925
|
|
NM_000051.4(ATM):c.7904C>A (p.Ala2635Asp)
|
rs754002355
|
|
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)
|
rs754002355
|
|
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile)
|
rs2086428372
|
|
NM_000051.4(ATM):c.7927+13del
|
rs587781324
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
NM_000051.4(ATM):c.7927+14A>G
|
rs770850205
|
|
NM_000051.4(ATM):c.7927+16A>C
|
rs746438364
|
|
NM_000051.4(ATM):c.7927+17G>A
|
rs774276048
|
|
NM_000051.4(ATM):c.7927+7T>G
|
rs1057521294
|
|
NM_000051.4(ATM):c.7928-2A>C
|
rs864622610
|
|
NM_000051.4(ATM):c.7928-2A>G
|
rs864622610
|
|
NM_000051.4(ATM):c.7928-3C>T
|
rs1555126153
|
|
NM_000051.4(ATM):c.7928-4A>C
|
rs876658629
|
|
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser)
|
rs587781897
|
|
NM_000051.4(ATM):c.7930G>T (p.Gly2644Cys)
|
rs587781897
|
|
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val)
|
rs937831636
|
|
NM_000051.4(ATM):c.7947A>G (p.Ala2649=)
|
rs1060504301
|
|
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val)
|
rs1591184384
|
|
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser)
|
rs1565538536
|
|
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp)
|
rs1555126247
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
NM_000051.4(ATM):c.7984G>T (p.Val2662Phe)
|
rs1315805984
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu)
|
rs1591184690
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8000dup (p.Met2667fs)
|
|
|
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys)
|
rs772097933
|
|
NM_000051.4(ATM):c.8010+11A>C
|
rs760588708
|
|
NM_000051.4(ATM):c.8010+18_8010+19del
|
rs750095790
|
|
NM_000051.4(ATM):c.8010+19T>A
|
rs1555126346
|
|
NM_000051.4(ATM):c.8010+19T>C
|
rs1555126346
|
|
NM_000051.4(ATM):c.8010+19_8010+22delinsGAT
|
rs1555126353
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
NM_000051.4(ATM):c.8011-6T>G
|
rs762092284
|
|
NM_000051.4(ATM):c.8011G>C (p.Val2671Leu)
|
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
NM_000051.4(ATM):c.8025A>G (p.Gly2675=)
|
rs1591191102
|
|
NM_000051.4(ATM):c.8028A>G (p.Glu2676=)
|
rs1389648050
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8038C>A (p.Leu2680Met)
|
rs2086671863
|
|
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu)
|
rs1064795034
|
|
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.8048T>C (p.Ile2683Thr)
|
rs1555127096
|
|
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg)
|
rs1555127107
|
|
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu)
|
rs1555127125
|
|
NM_000051.4(ATM):c.8062G>A (p.Ala2688Thr)
|
rs1565540761
|
|
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly)
|
rs759779781
|
|
NM_000051.4(ATM):c.8076A>T (p.Leu2692Phe)
|
|
|
NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter)
|
rs1555127157
|
|
NM_000051.4(ATM):c.8082A>C (p.Gly2694=)
|
rs540266635
|
|
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser)
|
rs1555127166
|
|
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp)
|
rs1555127177
|
|
NM_000051.4(ATM):c.8091T>C (p.Asn2697=)
|
rs756887364
|
|
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)
|
rs786203569
|
|
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg)
|
rs879254209
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)
|
rs587779870
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8124T>C (p.Asp2708=)
|
rs587781990
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
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>G (p.Gln2714Glu)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8142G>A (p.Gln2714=)
|
rs1565541302
|
|
NM_000051.4(ATM):c.8143C>A (p.Leu2715Ile)
|
rs1591192429
|
|
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe)
|
rs1591192429
|
|
NM_000051.4(ATM):c.8151+17C>T
|
rs761029795
|
|
NM_000051.4(ATM):c.8151+5G>C
|
rs1555127370
|
|
NM_000051.4(ATM):c.8151+6C>T
|
rs910779363
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
NM_000051.4(ATM):c.8152-10_8152-9insTTT
|
rs2136690521
|
|
NM_000051.4(ATM):c.8152-16C>G
|
rs1555128173
|
|
NM_000051.4(ATM):c.8152-20C>T
|
rs1555128158
|
|
NM_000051.4(ATM):c.8152-2A>G
|
rs777602049
|
|
NM_000051.4(ATM):c.8152-7T>C
|
rs2086778829
|
|
NM_000051.4(ATM):c.8152-8T>G
|
rs752705487
|
|
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu)
|
rs55982963
|
|
NM_000051.4(ATM):c.8169A>T (p.Arg2723Ser)
|
rs780495319
|
|
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.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
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.8193C>A (p.Val2731=)
|
rs1060504307
|
|
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val)
|
rs876659619
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
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.8215C>T (p.Leu2739=)
|
rs1060504311
|
|
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg)
|
rs1038749014
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
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.8268+15T>G
|
rs1555128691
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+22_8268+25del
|
rs746285826
|
|
NM_000051.4(ATM):c.8268+3_8268+4dup
|
rs2136701172
|
|
NM_000051.4(ATM):c.8268+5C>T
|
rs1565544035
|
|
NM_000051.4(ATM):c.8268+7A>C
|
rs1057524565
|
|
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.8269-10_8269-9del
|
rs587780641
|
|
NM_000051.4(ATM):c.8269-13del
|
rs2136938446
|
|
NM_000051.4(ATM):c.8269-18_8269-15del
|
rs1064794684
|
|
NM_000051.4(ATM):c.8269-1G>C
|
rs1565557607
|
|
NM_000051.4(ATM):c.8269-8A>C
|
rs2087802844
|
|
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly)
|
rs201216427
|
|
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu)
|
rs2087807752
|
|
NM_000051.4(ATM):c.8277C>T (p.Pro2759=)
|
rs878853548
|
|
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)
|
rs751574257
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
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.8296G>A (p.Val2766Ile)
|
rs730881322
|
|
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.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
NM_000051.4(ATM):c.8315G>A (p.Gly2772Glu)
|
rs775293524
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu)
|
rs2087821053
|
|
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs)
|
rs1060501630
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val)
|
rs879254240
|
|
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala)
|
rs876659792
|
|
NM_000051.4(ATM):c.8334A>G (p.Glu2778=)
|
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
NM_000051.4(ATM):c.8354A>T (p.Asp2785Val)
|
rs1591248589
|
|
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.8366A>G (p.Lys2789Arg)
|
rs1591248788
|
|
NM_000051.4(ATM):c.8368del (p.Arg2790fs)
|
rs2136948975
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser)
|
rs1174335574
|
|
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
|
|
|
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr)
|
rs1565558417
|
|
NM_000051.4(ATM):c.8389A>G (p.Ser2797Gly)
|
rs761629908
|
|
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn)
|
rs1203037698
|
|
NM_000051.4(ATM):c.8393C>T (p.Ala2798Val)
|
rs772992098
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter)
|
rs2136952289
|
|
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr)
|
rs1234463032
|
|
NM_000051.4(ATM):c.8418+14A>C
|
rs1555135939
|
|
NM_000051.4(ATM):c.8418+15A>C
|
rs1565558731
|
|
NM_000051.4(ATM):c.8418+3G>T
|
rs2087845145
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8418+6T>C
|
rs1555135928
|
|
NM_000051.4(ATM):c.8419-10C>T
|
|
|
NM_000051.4(ATM):c.8419-13T>G
|
rs2088258806
|
|
NM_000051.4(ATM):c.8419-17A>G
|
rs1057520452
|
|
NM_000051.4(ATM):c.8419-18T>C
|
rs2088256725
|
|
NM_000051.4(ATM):c.8419-1G>C
|
rs1555137920
|
|
NM_000051.4(ATM):c.8419-7_8419-4del
|
rs730881306
|
|
NM_000051.4(ATM):c.8419-8A>G
|
rs567215034
|
|
NM_000051.4(ATM):c.8419G>A (p.Glu2807Lys)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8420A>T (p.Glu2807Val)
|
rs2088262504
|
|
NM_000051.4(ATM):c.8421G>A (p.Glu2807=)
|
rs1555137945
|
|
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala)
|
rs1359195708
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8430A>G (p.Lys2810=)
|
rs2088266802
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8435C>A (p.Ser2812Tyr)
|
rs1565563280
|
|
NM_000051.4(ATM):c.8435C>G (p.Ser2812Cys)
|
rs1565563280
|
|
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)
|
rs1555138065
|
|
NM_000051.4(ATM):c.8469T>C (p.Val2823=)
|
rs1555138081
|
|
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>G (p.Gln2825Arg)
|
rs1555138094
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
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.8483A>G (p.Gln2828Arg)
|
rs1565563564
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8506A>G (p.Met2836Val)
|
rs879253968
|
|
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu)
|
rs767845728
|
|
NM_000051.4(ATM):c.8517_8519del (p.Phe2839del)
|
rs2088289040
|
|
NM_000051.4(ATM):c.8518T>C (p.Leu2840=)
|
rs794727769
|
|
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.8530A>C (p.Ile2844Leu)
|
rs756230327
|
|
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser)
|
rs876658716
|
|
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)
|
rs779394254
|
|
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>A (p.Val2856Glu)
|
rs1060501649
|
|
NM_000051.4(ATM):c.8571T>C (p.Ala2857=)
|
rs786203050
|
|
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.8584+16A>C
|
rs1322889530
|
|
NM_000051.4(ATM):c.8584+5T>C
|
rs577897927
|
|
NM_000051.4(ATM):c.8584+9_8584+11del
|
rs1064794534
|
|
NM_000051.4(ATM):c.8584+9del
|
rs1565564405
|
|
NM_000051.4(ATM):c.8585-11T>G
|
rs752428743
|
|
NM_000051.4(ATM):c.8585-17_8585-14del
|
rs764013510
|
|
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.8600G>A (p.Gly2867Glu)
|
rs2088544594
|
|
NM_000051.4(ATM):c.8601A>G (p.Gly2867=)
|
rs1565567027
|
|
NM_000051.4(ATM):c.8604T>G (p.Leu2868=)
|
rs2088545756
|
|
NM_000051.4(ATM):c.8610T>C (p.Asp2870=)
|
rs1370524851
|
|
NM_000051.4(ATM):c.8613A>G (p.Arg2871=)
|
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
NM_000051.4(ATM):c.8621A>G (p.Gln2874Arg)
|
rs1565567144
|
|
NM_000051.4(ATM):c.8622G>C (p.Gln2874His)
|
rs2088552485
|
|
NM_000051.4(ATM):c.8631G>C (p.Leu2877Phe)
|
rs1064794840
|
|
NM_000051.4(ATM):c.8635A>G (p.Asn2879Asp)
|
rs2137082792
|
|
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg)
|
rs1555139623
|
|
NM_000051.4(ATM):c.8645C>T (p.Ser2882Leu)
|
rs1252051440
|
|
NM_000051.4(ATM):c.8646A>G (p.Ser2882=)
|
rs1027903529
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8658A>G (p.Val2886=)
|
|
|
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn)
|
rs587781814
|
|
NM_000051.4(ATM):c.8668C>T (p.Leu2890=)
|
rs587779874
|
|
NM_000051.4(ATM):c.8671+15C>G
|
rs1438943849
|
|
NM_000051.4(ATM):c.8671+17A>T
|
rs765608446
|
|
NM_000051.4(ATM):c.8672-11C>G
|
rs2089488144
|
|
NM_000051.4(ATM):c.8672-17T>G
|
rs2089487400
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
NM_000051.4(ATM):c.8672-6C>A
|
rs1555142794
|
|
NM_000051.4(ATM):c.8672del
|
rs779170307
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8705C>G (p.Thr2902Ser)
|
rs1591306636
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)
|
rs786202933
|
|
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)
|
rs794728018
|
|
NM_000051.4(ATM):c.8733C>A (p.Thr2911=)
|
rs1057523011
|
|
NM_000051.4(ATM):c.8733C>G (p.Thr2911=)
|
|
|
NM_000051.4(ATM):c.8733C>T (p.Thr2911=)
|
rs1057523011
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu)
|
rs764778912
|
|
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.8760_8762dup (p.Thr2921_Gly2922insThr)
|
rs2089514452
|
|
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys)
|
rs730881329
|
|
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)
|
rs781528244
|
|
NM_000051.4(ATM):c.8765G>C (p.Gly2922Ala)
|
rs2089517173
|
|
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val)
|
rs769959260
|
|
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)
|
rs1555142909
|
|
NM_000051.4(ATM):c.8784A>G (p.Arg2928=)
|
rs1565579622
|
|
NM_000051.4(ATM):c.8786+11T>G
|
rs368627124
|
|
NM_000051.4(ATM):c.8786+16T>G
|
rs1057521277
|
|
NM_000051.4(ATM):c.8786+19del
|
rs730881307
|
|
NM_000051.4(ATM):c.8786+8A>T
|
rs4986839
|
|
NM_000051.4(ATM):c.8787-12G>C
|
rs1565582204
|
|
NM_000051.4(ATM):c.8787-13T>G
|
rs1565582198
|
|
NM_000051.4(ATM):c.8787-19A>G
|
rs1555143457
|
|
NM_000051.4(ATM):c.8787-20T>A
|
rs1352666899
|
|
NM_000051.4(ATM):c.8787-5T>C
|
rs1479499265
|
|
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr)
|
rs1060501572
|
|
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys)
|
rs1240328733
|
|
NM_000051.4(ATM):c.8802C>G (p.Thr2934=)
|
rs1565582354
|
|
NM_000051.4(ATM):c.8803A>G (p.Met2935Val)
|
|
|
NM_000051.4(ATM):c.8808A>G (p.Glu2936=)
|
|
|
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)
|
rs587782149
|
|
NM_000051.4(ATM):c.8813T>A (p.Met2938Lys)
|
rs1565582407
|
|
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.8820C>G (p.Asn2940Lys)
|
rs775823407
|
|
NM_000051.4(ATM):c.8831C>T (p.Thr2944Ile)
|
rs1555143562
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn)
|
rs1555143579
|
|
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)
|
|
|
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.8850+12dup
|
rs1555143639
|
|
NM_000051.4(ATM):c.8850+13A>G
|
rs2089708352
|
|
NM_000051.4(ATM):c.8850+1G>A
|
rs1555143620
|
|
NM_000051.4(ATM):c.8850+5A>C
|
rs1057522186
|
|
NM_000051.4(ATM):c.8850+5A>G
|
rs1057522186
|
|
NM_000051.4(ATM):c.8850+5A>T
|
rs1057522186
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
NM_000051.4(ATM):c.8850+8del
|
rs2089705961
|
|
NM_000051.4(ATM):c.8851-10C>T
|
rs1057521676
|
|
NM_000051.4(ATM):c.8851-15dup
|
rs1565607238
|
|
NM_000051.4(ATM):c.8851-16T>C
|
rs1565607217
|
|
NM_000051.4(ATM):c.8851-17A>G
|
rs2091194046
|
|
NM_000051.4(ATM):c.8851-1G>A
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-3T>C
|
rs748874219
|
|
NM_000051.4(ATM):c.8851-973A>T
|
rs170548
|
|
NM_000051.4(ATM):c.8857C>G (p.Leu2953Val)
|
rs2137870068
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
NM_000051.4(ATM):c.8868A>C (p.Pro2956=)
|
rs1157772894
|
|
NM_000051.4(ATM):c.8868A>T (p.Pro2956=)
|
rs1157772894
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
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.8886G>A (p.Met2962Ile)
|
rs2137874845
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
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.8906A>G (p.Tyr2969Cys)
|
rs376524155
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8934T>C (p.Thr2978=)
|
rs1057521029
|
|
NM_000051.4(ATM):c.8935G>C (p.Glu2979Gln)
|
rs992563687
|
|
NM_000051.4(ATM):c.8937G>A (p.Glu2979=)
|
rs876658242
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
NM_000051.4(ATM):c.8947A>C (p.Thr2983Pro)
|
rs1555151456
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile)
|
rs1472935232
|
|
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.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000051.4(ATM):c.8967A>G (p.Gln2989=)
|
rs876659033
|
|
NM_000051.4(ATM):c.8972G>T (p.Cys2991Phe)
|
rs1555151500
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8979A>G (p.Arg2993=)
|
rs1042288533
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
NM_000051.4(ATM):c.8987+11T>G
|
rs1555151554
|
|
NM_000051.4(ATM):c.8988-12T>A
|
rs1370262422
|
|
NM_000051.4(ATM):c.8988-13T>G
|
rs756571175
|
|
NM_000051.4(ATM):c.8988-17T>C
|
rs1565608529
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-20C>T
|
rs2091228238
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.8988-3T>C
|
rs1565608600
|
|
NM_000051.4(ATM):c.8988-5C>T
|
rs1591386387
|
|
NM_000051.4(ATM):c.8988-7T>A
|
rs1487809821
|
|
NM_000051.4(ATM):c.8988-8dup
|
rs1591386308
|
|
NM_000051.4(ATM):c.8992A>G (p.Ile2998Val)
|
rs1565608692
|
|
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.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)
|
rs144636562
|
|
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu)
|
rs1555151737
|
|
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala)
|
rs876659968
|
|
NM_000051.4(ATM):c.9018T>C (p.Ala3006=)
|
rs2091236849
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu)
|
rs587781894
|
|
NM_000051.4(ATM):c.9024T>C (p.Arg3008=)
|
rs876658179
|
|
NM_000051.4(ATM):c.9027C>G (p.Val3009=)
|
rs1200351979
|
|
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr)
|
rs1555151804
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
NM_000051.4(ATM):c.9042A>G (p.Gln3014=)
|
rs1060504291
|
|
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.9051G>A (p.Leu3017=)
|
rs1467393169
|
|
NM_000051.4(ATM):c.9057_9058dup (p.Val3020fs)
|
rs2137913928
|
|
NM_000051.4(ATM):c.9059T>A (p.Val3020Glu)
|
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
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.9071C>A (p.Thr3024Asn)
|
rs786203183
|
|
NM_000051.4(ATM):c.9073G>A (p.Val3025Met)
|
rs1555151925
|
|
NM_000051.4(ATM):c.9079A>C (p.Ser3027Arg)
|
rs763152094
|
|
NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly)
|
rs763152094
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr)
|
rs1565609342
|
|
NM_000051.4(ATM):c.9081T>C (p.Ser3027=)
|
rs2091248229
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9096G>A (p.Val3032=)
|
rs1565609478
|
|
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.9106A>C (p.Ile3036Leu)
|
|
|
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val)
|
rs1565609567
|
|
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)
|
rs1131691391
|
|
NM_000051.4(ATM):c.9117C>A (p.Ala3039=)
|
rs1289926943
|
|
NM_000051.4(ATM):c.9117C>T (p.Ala3039=)
|
rs1289926943
|
|
NM_000051.4(ATM):c.9118A>G (p.Ile3040Val)
|
rs2091255041
|
|
NM_000051.4(ATM):c.9131A>G (p.Asn3044Ser)
|
rs1555152029
|
|
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe)
|
rs1555152033
|
|
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly)
|
rs1555152041
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)
|
rs1565609869
|
|
NM_000051.4(ATM):c.9166G>A (p.Val3056Met)
|
rs371767164
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|