NM_000051.4(ATM):c.6807+238G>C
|
rs609429
|
0.53261
|
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.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.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.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.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
NM_000051.4(ATM):c.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.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.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
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.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu)
|
rs778267979
|
0.00004
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000051.4(ATM):c.6526T>C (p.Leu2176=)
|
rs143715818
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
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.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
NM_000051.4(ATM):c.6042G>A (p.Glu2014=)
|
rs138987778
|
0.00002
|
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)
|
rs758038580
|
0.00002
|
NM_000051.4(ATM):c.6219C>G (p.Leu2073=)
|
rs752478345
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000051.4(ATM):c.6774C>T (p.Leu2258=)
|
rs1057520450
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys)
|
rs863224462
|
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.8121C>T (p.Ser2707=)
|
rs770138283
|
0.00002
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)
|
rs1060501652
|
0.00001
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
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.6068G>A (p.Gly2023Glu)
|
rs1486220915
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
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.6121A>G (p.Met2041Val)
|
rs759753186
|
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.6232T>C (p.Ser2078Pro)
|
rs587779854
|
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.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu)
|
rs780299607
|
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.6558G>A (p.Gly2186=)
|
rs1555117263
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)
|
rs760602228
|
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.6784G>C (p.Ala2262Pro)
|
rs587781674
|
0.00001
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
NM_000051.4(ATM):c.6846T>C (p.Asn2282=)
|
rs541718119
|
0.00001
|
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)
|
rs763839047
|
0.00001
|
NM_000051.4(ATM):c.6966C>T (p.Ser2322=)
|
rs864622593
|
0.00001
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp)
|
rs767494363
|
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.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)
|
rs1429991894
|
0.00001
|
NM_000051.4(ATM):c.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.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr)
|
rs940285361
|
0.00001
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
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.8019C>T (p.His2673=)
|
rs1181283176
|
0.00001
|
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)
|
rs766730487
|
0.00001
|
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)
|
rs201689025
|
0.00001
|
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)
|
rs367575159
|
0.00001
|
NM_000051.4(ATM):c.8217G>A (p.Leu2739=)
|
rs759069006
|
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.8266A>T (p.Lys2756Ter)
|
rs371638537
|
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.8355T>C (p.Asp2785=)
|
rs372834825
|
0.00001
|
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser)
|
rs1010206130
|
0.00001
|
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His)
|
rs1020805015
|
0.00001
|
NM_000051.4(ATM):c.8385T>C (p.Asp2795=)
|
rs1251164631
|
0.00001
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
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.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
0.00001
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)
|
rs748192003
|
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.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
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.8922G>A (p.Pro2974=)
|
rs527248759
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
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.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000051.4(ATM):c.5769T>C (p.Ser1923=)
|
rs1060504280
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5865A>G (p.Leu1955=)
|
rs1555110432
|
|
NM_000051.4(ATM):c.5874A>G (p.Ala1958=)
|
rs1591746375
|
|
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr)
|
rs730881377
|
|
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)
|
rs1060504265
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg)
|
rs863224575
|
|
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)
|
rs1060504316
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
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.6119C>T (p.Ala2040Val)
|
rs1299506506
|
|
NM_000051.4(ATM):c.6120A>G (p.Ala2040=)
|
rs1565499622
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)
|
rs376521407
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser)
|
rs2084783116
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro)
|
rs1565503340
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)
|
rs759029705
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)
|
rs1060504297
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn)
|
rs56815840
|
|
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)
|
rs730881382
|
|
NM_000051.4(ATM):c.6452+2T>C
|
rs1064795006
|
|
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr)
|
rs2136222746
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
NM_000051.4(ATM):c.6516A>C (p.Thr2172=)
|
rs576254168
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6681C>A (p.Arg2227=)
|
rs775850434
|
|
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)
|
rs587781562
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
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.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
NM_000051.4(ATM):c.6807+8del
|
rs1555119385
|
|
NM_000051.4(ATM):c.6808-242_7516-275del
|
|
|
NM_000051.4(ATM):c.6808-72ATT[4]
|
rs3212322
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr)
|
rs1591134072
|
|
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln)
|
rs1449259481
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
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.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
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.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7038A>G (p.Ala2346=)
|
rs146167034
|
|
NM_000051.4(ATM):c.7049T>C (p.Leu2350Ser)
|
rs2085820749
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7128T>G (p.Ser2376Arg)
|
rs2136412428
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu)
|
rs2136415518
|
|
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr)
|
rs758351633
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr)
|
rs1565527146
|
|
NM_000051.4(ATM):c.7284G>A (p.Arg2428=)
|
rs1591152279
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
|
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.7425A>G (p.Leu2475=)
|
rs1555123162
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg)
|
rs1555123216
|
|
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.7560G>A (p.Met2520Ile)
|
rs1591167543
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp)
|
rs1322308382
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile)
|
rs761790685
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.8046T>C (p.Thr2682=)
|
rs876660435
|
|
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del)
|
rs1565540828
|
|
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)
|
rs786203569
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val)
|
rs2086688080
|
|
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala)
|
rs2086799919
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8269-10_8269-9del
|
rs587780641
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
NM_000051.4(ATM):c.8295T>C (p.Gly2765=)
|
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val)
|
rs879253877
|
|
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser)
|
rs1174335574
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr)
|
rs876660927
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly)
|
rs587778080
|
|
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)
|
rs368058202
|
|
NM_000051.4(ATM):c.8562C>T (p.Arg2854=)
|
rs878853550
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
NM_000051.4(ATM):c.8605G>C (p.Gly2869Arg)
|
rs748855312
|
|
NM_000051.4(ATM):c.8615A>G (p.His2872Arg)
|
rs1591273938
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
NM_000051.4(ATM):c.8660A>C (p.His2887Pro)
|
rs864622173
|
|
NM_000051.4(ATM):c.8671+1G>T
|
rs1555139694
|
|
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg)
|
rs1565567541
|
|
NM_000051.4(ATM):c.8672-9T>C
|
rs2137283941
|
|
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu)
|
rs1565579149
|
|
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)
|
rs786202933
|
|
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys)
|
rs730881329
|
|
NM_000051.4(ATM):c.8787-3T>C
|
rs2089687765
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val)
|
rs1333760745
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
NM_000051.4(ATM):c.8851G>C (p.Val2951Leu)
|
rs1555151205
|
|
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu)
|
rs1555151244
|
|
NM_000051.4(ATM):c.8868A>T (p.Pro2956=)
|
rs1157772894
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys)
|
rs376524155
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala)
|
rs876659968
|
|
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp)
|
rs769548726
|
|
NM_000051.4(ATM):c.9076C>G (p.Leu3026Val)
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9084T>C (p.Val3028=)
|
rs786203210
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe)
|
rs876660534
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|
NM_001330368.2(C11orf65):c.641-36671del
|
rs2137023331
|
|