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.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.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000051.4(ATM):c.6808-22C>A
|
rs3218700
|
0.00036
|
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.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.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.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.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.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.7271T>G (p.Val2424Gly)
|
rs28904921
|
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.6160G>T (p.Ala2054Ser)
|
rs587779853
|
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.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.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
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.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
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.7213A>G (p.Met2405Val)
|
rs587781323
|
0.00003
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)
|
rs34099398
|
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.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
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.7630-3C>T
|
rs587782448
|
0.00002
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
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.8405A>G (p.Gln2802Arg)
|
rs730881324
|
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.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)
|
rs780867575
|
0.00001
|
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)
|
rs786203404
|
0.00001
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr)
|
rs1000032847
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)
|
rs1060501586
|
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.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly)
|
rs752069869
|
0.00001
|
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu)
|
rs587780635
|
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.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr)
|
rs374551964
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
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.6679C>T (p.Arg2227Cys)
|
rs564652222
|
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.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)
|
rs1381019767
|
0.00001
|
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val)
|
rs776429506
|
0.00001
|
NM_000051.4(ATM):c.6942A>C (p.Gln2314His)
|
rs764859160
|
0.00001
|
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu)
|
rs1449259481
|
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.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
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.7291A>G (p.Lys2431Glu)
|
rs864622563
|
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.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.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
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.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe)
|
rs1449747119
|
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.7531A>T (p.Ile2511Phe)
|
rs146069748
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)
|
rs750224234
|
0.00001
|
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly)
|
rs766351395
|
0.00001
|
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly)
|
rs563137460
|
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.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
NM_000051.4(ATM):c.8072G>A (p.Arg2691His)
|
rs876658385
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
0.00001
|
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)
|
rs730881321
|
0.00001
|
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)
|
rs587779871
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
NM_000051.4(ATM):c.8269G>A (p.Val2757Met)
|
rs761625350
|
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.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
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.8505C>A (p.Cys2835Ter)
|
rs587781597
|
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.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.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile)
|
rs1064795066
|
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.8751C>T (p.Gly2917=)
|
rs779858366
|
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.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.8850+10T>C
|
rs762487236
|
0.00001
|
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg)
|
rs763773991
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
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.9023G>A (p.Arg3008His)
|
rs587781894
|
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.5763-2A>T
|
rs876659489
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn)
|
rs786203668
|
|
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu)
|
rs1555110379
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys)
|
rs1591746364
|
|
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)
|
rs876660515
|
|
NM_000051.4(ATM):c.5876A>T (p.Glu1959Val)
|
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn)
|
rs1565490147
|
|
NM_000051.4(ATM):c.5896del (p.Ser1966fs)
|
|
|
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)
|
rs1555110568
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5918+14G>T
|
rs2136020496
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
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.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly)
|
rs866824608
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys)
|
rs2136063107
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6006+1G>T
|
|
|
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn)
|
rs730881378
|
|
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
|
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
|
|
|
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.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val)
|
rs876659558
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
|
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
NM_000051.4(ATM):c.6175A>T (p.Thr2059Ser)
|
|
|
NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)
|
|
|
NM_000051.4(ATM):c.6182dup (p.Ala2062fs)
|
|
|
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)
|
rs2136131958
|
|
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)
|
rs866290641
|
|
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
|
|
|
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)
|
rs1361215494
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6199-1G>T
|
rs1591788932
|
|
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.6215del (p.Gly2072fs)
|
rs2084775383
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)
|
rs587779855
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg)
|
rs773891864
|
|
NM_000051.4(ATM):c.6324G>T (p.Gln2108His)
|
rs2136169496
|
|
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)
|
rs1060501654
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
NM_000051.4(ATM):c.6331_6332del (p.His2111fs)
|
|
|
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr)
|
rs1591790360
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-8T>A
|
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)
|
rs1060501594
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)
|
rs758446561
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
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.6431A>G (p.Tyr2144Cys)
|
rs1555116507
|
|
NM_000051.4(ATM):c.6453-1G>C
|
rs1555117071
|
|
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg)
|
rs150408832
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg)
|
rs138166710
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg)
|
rs772850740
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
NM_000051.4(ATM):c.6527del (p.Leu2176fs)
|
rs2136241341
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro)
|
rs1060501573
|
|
NM_000051.4(ATM):c.6556G>A (p.Gly2186Arg)
|
rs2136242830
|
|
NM_000051.4(ATM):c.6572+12G>A
|
rs3218677
|
|
NM_000051.4(ATM):c.6572+1G>T
|
rs587779856
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
|
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)
|
|
|
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
NM_000051.4(ATM):c.6641A>G (p.Asp2214Gly)
|
|
|
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn)
|
rs1482691031
|
|
NM_000051.4(ATM):c.6649T>A (p.Phe2217Ile)
|
|
|
NM_000051.4(ATM):c.6665del (p.Pro2222fs)
|
|
|
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly)
|
rs1555119144
|
|
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
|
|
|
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)
|
rs1385625521
|
|
NM_000051.4(ATM):c.6730dup (p.Arg2244fs)
|
rs1060501543
|
|
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu)
|
rs1555119232
|
|
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro)
|
rs1262434611
|
|
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu)
|
rs863224578
|
|
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.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
|
rs2085584895
|
|
NM_000051.4(ATM):c.6807+2_6807+14del
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr)
|
rs1283858462
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs)
|
rs2136332584
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6845A>C (p.Asn2282Thr)
|
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
NM_000051.4(ATM):c.6880G>A (p.Glu2294Lys)
|
|
|
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
|
|
|
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
|
|
|
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys)
|
rs1591133875
|
|
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)
|
|
|
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs)
|
rs2136339054
|
|
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe)
|
rs876660924
|
|
NM_000051.4(ATM):c.6975+13dup
|
rs763287238
|
|
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.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
NM_000051.4(ATM):c.6995_6998del (p.Leu2332fs)
|
|
|
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.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
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.7031G>A (p.Trp2344Ter)
|
|
|
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp)
|
rs1197214197
|
|
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)
|
rs753951063
|
|
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)
|
rs730881314
|
|
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.7089+1G>T
|
rs777741666
|
|
NM_000051.4(ATM):c.7089+1_7089+38del
|
rs2085827807
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala)
|
rs587782225
|
|
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr)
|
rs1215010771
|
|
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)
|
rs1591150887
|
|
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
|
rs2085980902
|
|
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val)
|
rs1555122090
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
|
|
|
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val)
|
rs1565526813
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
NM_000051.4(ATM):c.7202T>G (p.Ile2401Ser)
|
|
|
NM_000051.4(ATM):c.7203del (p.Ile2401fs)
|
rs2136417490
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)
|
rs758351633
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)
|
rs758614348
|
|
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu)
|
rs1591152450
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
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.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7326G>T (p.Gln2442His)
|
rs1555122970
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)
|
rs1555122998
|
|
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)
|
rs1591160022
|
|
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
|
|
|
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.7403A>C (p.Glu2468Ala)
|
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
|
rs2086125359
|
|
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)
|
rs1224883896
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
|
|
|
NM_000051.4(ATM):c.7478A>G (p.Glu2493Gly)
|
|
|
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)
|
rs1591161664
|
|
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu)
|
rs780931855
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519G>C (p.Asp2507His)
|
rs2136491059
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala)
|
rs1480066803
|
|
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val)
|
rs1555124455
|
|
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly)
|
rs1565533613
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
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.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7701C>A (p.Asn2567Lys)
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7735A>G (p.Arg2579Gly)
|
|
|
NM_000051.4(ATM):c.7743C>G (p.Ser2581Arg)
|
|
|
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs)
|
rs2086308364
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7783_7788+28del
|
|
|
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.7788G>T (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)
|
rs1427723678
|
|
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)
|
rs774118570
|
|
NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly)
|
rs1591178767
|
|
NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)
|
|
|
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.7879T>C (p.Tyr2627His)
|
rs2086422796
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
|
|
|
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)
|
rs754002355
|
|
NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)
|
|
|
NM_000051.4(ATM):c.7919C>G (p.Thr2640Ser)
|
rs4988125
|
|
NM_000051.4(ATM):c.7921C>A (p.Gln2641Lys)
|
|
|
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.7927+6T>G
|
rs1591179460
|
|
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.7948G>A (p.Asp2650Asn)
|
rs786202219
|
|
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.7980A>T (p.Glu2660Asp)
|
rs1555126247
|
|
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.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu)
|
rs34099398
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010+2T>C
|
rs1591184927
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala)
|
rs730881320
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)
|
rs2086676230
|
|
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met)
|
rs2086684779
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
|
|
|
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr)
|
rs876659351
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile)
|
rs730881385
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
NM_000051.4(ATM):c.8151+1G>T
|
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
|
|
|
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val)
|
rs1555128280
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile)
|
rs1215175886
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8233del (p.Thr2745fs)
|
|
|
NM_000051.4(ATM):c.8234C>G (p.Thr2745Ser)
|
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)
|
rs2086800136
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe)
|
rs1284049490
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+2T>C
|
rs1565544020
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
|
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
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.8305del (p.Trp2769fs)
|
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
NM_000051.4(ATM):c.8315del (p.Gly2772fs)
|
|
|
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser)
|
rs2087823795
|
|
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
|
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
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.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8381del (p.Asn2794fs)
|
rs2136950565
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8400G>T (p.Gln2800His)
|
rs879253901
|
|
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
|
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8419-2A>C
|
rs1555137917
|
|
NM_000051.4(ATM):c.8419-3_8419-1del
|
|
|
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.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro)
|
rs786202372
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
NM_000051.4(ATM):c.8440del (p.Glu2814fs)
|
rs752526400
|
|
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)
|
rs1555138065
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs)
|
rs2137028850
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser)
|
rs876659505
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
|
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
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.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr)
|
rs2137038745
|
|
NM_000051.4(ATM):c.8584+4A>G
|
rs1555138484
|
|
NM_000051.4(ATM):c.8585-13_8598del
|
rs1555139443
|
|
NM_000051.4(ATM):c.8585-1G>C
|
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
NM_000051.4(ATM):c.8585-3_8585-1delinsT
|
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8666A>C (p.Asp2889Ala)
|
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
NM_000051.4(ATM):c.8671+2del
|
|
|
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys)
|
rs1565567541
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)
|
rs748192003
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp)
|
rs1591306536
|
|
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu)
|
rs2137287369
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8708del (p.Pro2903fs)
|
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
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.8766dup (p.Val2923fs)
|
rs876660813
|
|
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)
|
rs1555142909
|
|
NM_000051.4(ATM):c.8786+16T>C
|
rs1057521277
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser)
|
rs1060501563
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)
|
rs587782149
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-4_8852del
|
rs2091196613
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
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.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser)
|
rs786203613
|
|
NM_000051.4(ATM):c.8923G>C (p.Glu2975Gln)
|
rs2091208125
|
|
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter)
|
rs2091208125
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile)
|
rs1472935232
|
|
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val)
|
rs747445236
|
|
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)
|
rs863224582
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
NM_000051.4(ATM):c.8968G>T (p.Glu2990Ter)
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-27C>G
|
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu)
|
rs540172506
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)
|
rs1565608897
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9025G>A (p.Val3009Ile)
|
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9068del (p.Gly3023fs)
|
rs1591387383
|
|
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro)
|
rs587781630
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile)
|
rs1565609342
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)
|
rs1131691391
|
|
NM_000051.4(ATM):c.9132del (p.Leu3045fs)
|
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.9156G>T (p.Trp3052Cys)
|
rs587781711
|
|
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)
|
rs1555152104
|
|
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)
|
rs1565609869
|
|
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
|
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|