ClinVar Miner

List of variants in gene ATM, C11orf65 studied for ataxia telangiectasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4750
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8671+104T>C rs227075 0.62224
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
NM_000051.4(ATM):c.*3393G>T rs4585 0.53241
NM_000051.4(ATM):c.*1604C>T rs227091 0.51797
NM_000051.4(ATM):c.*548G>T rs227092 0.51711
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.*3072C>T rs3092844 0.06203
NM_000051.4(ATM):c.*551T>C rs143531724 0.03007
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.*1427T>C rs3092836 0.02459
NM_000051.4(ATM):c.6573-36C>T rs759869598 0.02433
NM_000051.4(ATM):c.*2199C>G rs75959910 0.02227
NM_000051.4(ATM):c.*2220A>G rs75293772 0.02223
NM_000051.4(ATM):c.*1882C>G rs80226715 0.01757
NM_000051.4(ATM):c.*371A>G rs3092835 0.01507
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.*3093C>T rs79807288 0.01336
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.*684T>G rs3092837 0.01076
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.*1799C>T rs114847811 0.00725
NM_000051.4(ATM):c.*2080C>T rs142456486 0.00675
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.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.*236C>T rs3092834 0.00640
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*779T>G rs78327467 0.00604
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
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.*1974C>G rs148781946 0.00368
NM_000051.4(ATM):c.6573-30C>T rs775413448 0.00345
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.*3136A>G rs3092845 0.00242
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.*2866T>C rs191399133 0.00142
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.*3413T>C rs4987114 0.00100
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.*3198T>G rs764033869 0.00089
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.*521del rs886047615 0.00062
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.*2607T>C rs879796523 0.00055
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.*2224C>T rs139245552 0.00043
NM_000051.4(ATM):c.*540A>C rs868594741 0.00042
NM_000051.4(ATM):c.*1641G>A rs978143944 0.00041
NM_000051.4(ATM):c.8418+13C>T rs372552946 0.00041
NM_000051.4(ATM):c.*2362T>C rs185852664 0.00040
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.*1520C>T rs112426029 0.00036
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.*3022C>G rs145076930 0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000051.4(ATM):c.*1571C>T rs886047621 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000051.4(ATM):c.*2479G>A rs778439888 0.00020
NM_000051.4(ATM):c.*223G>A rs536067082 0.00019
NM_000051.4(ATM):c.*2957G>C rs770767475 0.00019
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.*2756T>C rs754992709 0.00018
NM_000051.4(ATM):c.*2563C>T rs146547907 0.00017
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.*3204G>A rs181377742 0.00016
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.7629+146A>G rs769608929 0.00014
NM_000051.4(ATM):c.*509G>A rs1329700897 0.00013
NM_000051.4(ATM):c.*703G>A rs118179262 0.00013
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.*1670G>A rs886047623 0.00009
NM_000051.4(ATM):c.*2153G>A rs1021493177 0.00009
NM_000051.4(ATM):c.*712A>G rs966180034 0.00009
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.*1768C>T rs551571814 0.00008
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.*1272C>G rs376572054 0.00007
NM_000051.4(ATM):c.*3091G>A rs886047629 0.00006
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.*222C>T rs760852487 0.00005
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.*3579T>G rs912006598 0.00004
NM_000051.4(ATM):c.*690T>C rs751932227 0.00004
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.*534A>C rs957324830 0.00003
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.6199-3T>C rs1318760213 0.00003
NM_000051.4(ATM):c.6219C>T (p.Leu2073=) rs752478345 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.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.7213A>G (p.Met2405Val) rs587781323 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7431A>T (p.Gly2477=) rs1158876832 0.00003
NM_000051.4(ATM):c.7516-17del rs1223140309 0.00003
NM_000051.4(ATM):c.7516-19_7516-18insAA rs1361261201 0.00003
NM_000051.4(ATM):c.7658C>A (p.Pro2553His) rs864622368 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.8248T>C (p.Leu2750=) rs876658559 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.*2780C>T rs1246719124 0.00002
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.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.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys) rs886039471 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.6897C>T (p.Phe2299=) rs777164914 0.00002
NM_000051.4(ATM):c.7038A>T (p.Ala2346=) rs146167034 0.00002
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys) rs863224462 0.00002
NM_000051.4(ATM):c.7358G>A (p.Arg2453His) rs587781361 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=) rs772228129 0.00002
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile) rs786203764 0.00002
NM_000051.4(ATM):c.7630-3C>T rs587782448 0.00002
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys) rs761790685 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.7788+19C>T rs201990371 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu) rs1196903858 0.00002
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro) rs267606669 0.00002
NM_000051.4(ATM):c.7929A>T (p.Lys2643Asn) rs780247224 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000051.4(ATM):c.8164C>T (p.Leu2722=) rs587782399 0.00002
NM_000051.4(ATM):c.8169A>G (p.Arg2723=) rs780495319 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.*1640C>T rs886047622 0.00001
NM_000051.4(ATM):c.*244G>A rs1280155397 0.00001
NM_000051.4(ATM):c.*3325A>G rs886047630 0.00001
NM_000051.4(ATM):c.*605G>A rs2091314734 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 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.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser) rs1286443989 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu) rs779692309 0.00001
NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg) rs746676271 0.00001
NM_000051.4(ATM):c.5835T>G (p.Ala1945=) rs768106055 0.00001
NM_000051.4(ATM):c.5852A>C (p.His1951Pro) rs1164569755 0.00001
NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn) rs587782503 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5886A>G (p.Ala1962=) rs1057522876 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.5918+7G>A rs1423323603 0.00001
NM_000051.4(ATM):c.5919-19G>A rs1679583556 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.5934A>C (p.Glu1978Asp) rs945198632 0.00001
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg) rs786203765 0.00001
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg) rs543980602 0.00001
NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys) rs770722380 0.00001
NM_000051.4(ATM):c.5964C>T (p.Ser1988=) rs774260725 0.00001
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys) rs786203404 0.00001
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val) rs1188125296 0.00001
NM_000051.4(ATM):c.5994A>T (p.Gly1998=) rs56046250 0.00001
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn) rs775921052 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.6007-16G>A rs771998564 0.00001
NM_000051.4(ATM):c.6012T>C (p.Leu2004=) rs1324998068 0.00001
NM_000051.4(ATM):c.6015C>T (p.Leu2005=) rs1397821498 0.00001
NM_000051.4(ATM):c.6020A>C (p.Glu2007Ala) rs762001297 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=) rs777534711 0.00001
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr) rs876660062 0.00001
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser) rs35991214 0.00001
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915 0.00001
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile) rs369349023 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095+5A>G rs757328753 0.00001
NM_000051.4(ATM):c.6095+8G>T rs547072690 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6097C>T (p.Leu2033=) rs769813736 0.00001
NM_000051.4(ATM):c.6103A>G (p.Thr2035Ala) rs876659555 0.00001
NM_000051.4(ATM):c.6105A>G (p.Thr2035=) rs1555113708 0.00001
NM_000051.4(ATM):c.6121A>G (p.Met2041Val) rs759753186 0.00001
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr) rs1000032847 0.00001
NM_000051.4(ATM):c.6127G>A (p.Gly2043Ser) rs767939328 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 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.6198+11T>C rs774664615 0.00001
NM_000051.4(ATM):c.6199-6G>A rs1555114529 0.00001
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala) rs1183544857 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro) rs587779854 0.00001
NM_000051.4(ATM):c.6244A>G (p.Lys2082Glu) rs1239942908 0.00001
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg) rs1060501586 0.00001
NM_000051.4(ATM):c.6250T>C (p.Leu2084=) rs772608345 0.00001
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu) rs376898203 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6296A>G (p.His2099Arg) rs587782802 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6336C>T (p.Cys2112=) rs755845798 0.00001
NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala) rs1555114835 0.00001
NM_000051.4(ATM):c.6342C>T (p.Ser2114=) rs754020535 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6348-3C>T rs946541820 0.00001
NM_000051.4(ATM):c.6348-5C>A rs1388651064 0.00001
NM_000051.4(ATM):c.6365C>G (p.Thr2122Ser) rs1555116369 0.00001
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly) rs876659773 0.00001
NM_000051.4(ATM):c.6373C>T (p.His2125Tyr) rs1201879809 0.00001
NM_000051.4(ATM):c.6394C>T (p.Leu2132=) rs551408889 0.00001
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu) rs780299607 0.00001
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly) rs752069869 0.00001
NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys) rs1297621371 0.00001
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu) rs587780635 0.00001
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=) rs1057519167 0.00001
NM_000051.4(ATM):c.6452+13G>A rs760228732 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.6466G>A (p.Glu2156Lys) rs1328099740 0.00001
NM_000051.4(ATM):c.6482G>A (p.Arg2161His) rs756626462 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.6504G>A (p.Ser2168=) rs786203522 0.00001
NM_000051.4(ATM):c.6505C>G (p.Leu2169Val) rs1064794157 0.00001
NM_000051.4(ATM):c.6507C>G (p.Leu2169=) rs863224295 0.00001
NM_000051.4(ATM):c.6516A>G (p.Thr2172=) rs576254168 0.00001
NM_000051.4(ATM):c.6517C>T (p.Leu2173Phe) rs1565511354 0.00001
NM_000051.4(ATM):c.6522C>T (p.Ser2174=) rs772850740 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr) rs374551964 0.00001
NM_000051.4(ATM):c.6558G>A (p.Gly2186=) rs1555117263 0.00001
NM_000051.4(ATM):c.6572+13T>C rs1441875536 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6573-2A>C rs751168951 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6629A>C (p.Gln2210Pro) rs1252127806 0.00001
NM_000051.4(ATM):c.6629del (p.Gln2210fs) rs2085556498 0.00001
NM_000051.4(ATM):c.6630G>A (p.Gln2210=) rs777515589 0.00001
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg) rs749261367 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter) rs1591128898 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.6739A>G (p.Ile2247Val) rs587781521 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.6756C>T (p.Thr2252=) rs1008212556 0.00001
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602 0.00001
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val) rs1365474284 0.00001
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro) rs587781674 0.00001
NM_000051.4(ATM):c.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.6808-20A>G rs1240565463 0.00001
NM_000051.4(ATM):c.6831A>C (p.Gln2277His) rs1339794219 0.00001
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu) rs756898113 0.00001
NM_000051.4(ATM):c.6839del (p.Gln2280fs) rs1407907917 0.00001
NM_000051.4(ATM):c.6846T>C (p.Asn2282=) rs541718119 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6868G>A (p.Glu2290Lys) rs1479339581 0.00001
NM_000051.4(ATM):c.6892G>A (p.Val2298Ile) rs1204077610 0.00001
NM_000051.4(ATM):c.6905A>G (p.Lys2302Arg) rs1297586575 0.00001
NM_000051.4(ATM):c.6924C>A (p.Ala2308=) rs759878732 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6927G>T (p.Leu2309=) rs876660429 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val) rs776429506 0.00001
NM_000051.4(ATM):c.6936C>T (p.Leu2312=) rs1555119992 0.00001
NM_000051.4(ATM):c.6942A>C (p.Gln2314His) rs764859160 0.00001
NM_000051.4(ATM):c.6944T>C (p.Met2315Thr) rs1555120006 0.00001
NM_000051.4(ATM):c.6950A>C (p.Lys2317Thr) rs750285816 0.00001
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu) rs1449259481 0.00001
NM_000051.4(ATM):c.6966C>T (p.Ser2322=) rs864622593 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.6975+5G>T rs575354684 0.00001
NM_000051.4(ATM):c.6975+5del rs1442949382 0.00001
NM_000051.4(ATM):c.6975+7T>A rs754834282 0.00001
NM_000051.4(ATM):c.6975+9T>C rs1290573965 0.00001
NM_000051.4(ATM):c.6976-6dup rs760058702 0.00001
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile) rs761587154 0.00001
NM_000051.4(ATM):c.6982C>T (p.Pro2328Ser) rs769606850 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7017G>A (p.Arg2339=) rs1591142466 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.7046G>A (p.Cys2349Tyr) rs1223489931 0.00001
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met) rs757293178 0.00001
NM_000051.4(ATM):c.7089+20C>T rs730881275 0.00001
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp) rs767494363 0.00001
NM_000051.4(ATM):c.7110T>C (p.Asn2370=) rs752476328 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.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.7157C>A (p.Ala2386Glu) rs786203697 0.00001
NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu) rs747372355 0.00001
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile) rs567457294 0.00001
NM_000051.4(ATM):c.7209C>T (p.Asn2403=) rs373662499 0.00001
NM_000051.4(ATM):c.7214T>C (p.Met2405Thr) rs745440761 0.00001
NM_000051.4(ATM):c.7221A>G (p.Ser2407=) rs786201881 0.00001
NM_000051.4(ATM):c.7262A>T (p.Lys2421Ile) rs1360453074 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.7308-20C>T rs778603753 0.00001
NM_000051.4(ATM):c.7314A>C (p.Thr2438=) rs199909913 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn) rs751537332 0.00001
NM_000051.4(ATM):c.7322T>C (p.Val2441Ala) rs765548443 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7336G>A (p.Glu2446Lys) rs730881318 0.00001
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val) rs587779863 0.00001
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys) rs755418571 0.00001
NM_000051.4(ATM):c.7359T>G (p.Arg2453=) rs786201541 0.00001
NM_000051.4(ATM):c.7363C>T (p.Leu2455=) rs147665149 0.00001
NM_000051.4(ATM):c.7371G>A (p.Glu2457=) rs1454725863 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.7383C>T (p.Arg2461=) rs1429991894 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile) rs769722643 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7466C>T (p.Ser2489Phe) rs759728261 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe) rs1449747119 0.00001
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala) rs754245181 0.00001
NM_000051.4(ATM):c.7496A>G (p.Glu2499Gly) rs1224705805 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile) rs1266101531 0.00001
NM_000051.4(ATM):c.7512G>A (p.Met2504Ile) rs1350657331 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.7525A>G (p.Met2509Val) rs979101125 0.00001
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe) rs146069748 0.00001
NM_000051.4(ATM):c.7535C>T (p.Pro2512Leu) rs1237858258 0.00001
NM_000051.4(ATM):c.7539A>G (p.Thr2513=) rs752294923 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7545A>G (p.Lys2515=) rs1467809725 0.00001
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys) rs774312539 0.00001
NM_000051.4(ATM):c.7553C>T (p.Pro2518Leu) rs879254136 0.00001
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp) rs747145967 0.00001
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) rs769142993 0.00001
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu) rs864622688 0.00001
NM_000051.4(ATM):c.7620C>A (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7620C>T (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7629+12T>C rs373731708 0.00001
NM_000051.4(ATM):c.7629+20A>C rs2086239323 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.7630-18A>G rs1236081666 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7630-4A>G rs1057523067 0.00001
NM_000051.4(ATM):c.7648A>G (p.Met2550Val) rs878853545 0.00001
NM_000051.4(ATM):c.7656C>A (p.His2552Gln) rs1555124473 0.00001
NM_000051.4(ATM):c.7664A>G (p.His2555Arg) rs876658925 0.00001
NM_000051.4(ATM):c.7670T>G (p.Leu2557Trp) rs2086293039 0.00001
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val) rs1208002418 0.00001
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr) rs940285361 0.00001
NM_000051.4(ATM):c.7707T>C (p.Asp2569=) rs1183350500 0.00001
NM_000051.4(ATM):c.7716G>C (p.Leu2572=) rs763730344 0.00001
NM_000051.4(ATM):c.7720A>C (p.Lys2574Gln) rs1357229307 0.00001
NM_000051.4(ATM):c.7727A>G (p.Glu2576Gly) rs1202657573 0.00001
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly) rs750224234 0.00001
NM_000051.4(ATM):c.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.7897T>G (p.Leu2633Val) rs587779868 0.00001
NM_000051.4(ATM):c.7902T>G (p.Asp2634Glu) rs373147078 0.00001
NM_000051.4(ATM):c.7905C>T (p.Ala2635=) rs757829783 0.00001
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly) rs563137460 0.00001
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys) rs758843096 0.00001
NM_000051.4(ATM):c.7927+13T>A rs748853277 0.00001
NM_000051.4(ATM):c.7927+4T>C rs1335862267 0.00001
NM_000051.4(ATM):c.7928-6A>T rs373509918 0.00001
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val) rs876660877 0.00001
NM_000051.4(ATM):c.7957A>G (p.Ile2653Val) rs747448699 0.00001
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe) rs747448699 0.00001
NM_000051.4(ATM):c.7974T>C (p.Asn2658=) rs777548685 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) rs730881384 0.00001
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr) rs1060501566 0.00001
NM_000051.4(ATM):c.8010+19_8010+20del rs1325965934 0.00001
NM_000051.4(ATM):c.8010+5T>A rs56256497 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8011-18T>C rs768522292 0.00001
NM_000051.4(ATM):c.8019C>T (p.His2673=) rs1181283176 0.00001
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys) rs786202859 0.00001
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg) rs766730487 0.00001
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser) rs1175177178 0.00001
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val) rs587781344 0.00001
NM_000051.4(ATM):c.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8098A>G (p.Lys2700Glu) rs758588019 0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 0.00001
NM_000051.4(ATM):c.8108A>G (p.Asp2703Gly) rs1565541059 0.00001
NM_000051.4(ATM):c.8109T>C (p.Asp2703=) rs201689025 0.00001
NM_000051.4(ATM):c.8112T>C (p.Cys2704=) rs786201543 0.00001
NM_000051.4(ATM):c.8151+17C>G rs761029795 0.00001
NM_000051.4(ATM):c.8152-17G>A rs368924012 0.00001
NM_000051.4(ATM):c.8152-8T>A rs752705487 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8173G>C (p.Asp2725His) rs587782049 0.00001
NM_000051.4(ATM):c.8175T>A (p.Asp2725Glu) rs1431188311 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8193C>T (p.Val2731=) rs1060504307 0.00001
NM_000051.4(ATM):c.8196C>G (p.Phe2732Leu) rs1183442138 0.00001
NM_000051.4(ATM):c.8199G>A (p.Gln2733=) rs770552705 0.00001
NM_000051.4(ATM):c.8207A>G (p.Asn2736Ser) rs1190456608 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala) rs764003317 0.00001
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg) rs779145081 0.00001
NM_000051.4(ATM):c.8254A>G (p.Ile2752Val) rs1215163673 0.00001
NM_000051.4(ATM):c.8258G>A (p.Cys2753Tyr) rs1284049490 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.8269G>A (p.Val2757Met) rs761625350 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8278C>G (p.Leu2760Val) rs758609900 0.00001
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln) rs551411717 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8317A>G (p.Thr2773Ala) rs2087819658 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 0.00001
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His) rs1020805015 0.00001
NM_000051.4(ATM):c.8385T>C (p.Asp2795=) rs1251164631 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.8395T>G (p.Phe2799Val) rs730881323 0.00001
NM_000051.4(ATM):c.8400G>C (p.Gln2800His) rs879253901 0.00001
NM_000051.4(ATM):c.8418+11C>A rs1277361086 0.00001
NM_000051.4(ATM):c.8437T>C (p.Phe2813Leu) rs1280239284 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8461A>G (p.Met2821Val) rs876660081 0.00001
NM_000051.4(ATM):c.8466T>C (p.Asp2822=) rs1057523224 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 0.00001
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val) rs756230327 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8561G>T (p.Arg2854Leu) rs1060501605 0.00001
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile) rs777648248 0.00001
NM_000051.4(ATM):c.8572A>G (p.Thr2858Ala) rs749193688 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val) rs1555138472 0.00001
NM_000051.4(ATM):c.8584+19T>C rs772128061 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.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile) rs730881327 0.00001
NM_000051.4(ATM):c.8624A>C (p.Asn2875Thr) rs587782451 0.00001
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile) rs1064795066 0.00001
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly) rs876658236 0.00001
NM_000051.4(ATM):c.8671+15C>A rs1438943849 0.00001
NM_000051.4(ATM):c.8671+17A>G rs765608446 0.00001
NM_000051.4(ATM):c.8671+19G>C rs1308810219 0.00001
NM_000051.4(ATM):c.8672-19A>T rs1381779608 0.00001
NM_000051.4(ATM):c.8672-3T>C rs1060501550 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.8676T>A (p.Val2892=) rs1401097446 0.00001
NM_000051.4(ATM):c.8709T>C (p.Pro2903=) rs773208089 0.00001
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile) rs587780643 0.00001
NM_000051.4(ATM):c.8717T>C (p.Val2906Ala) rs730881328 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met) rs587782264 0.00001
NM_000051.4(ATM):c.8744T>C (p.Val2915Ala) rs2089511171 0.00001
NM_000051.4(ATM):c.8751C>T (p.Gly2917=) rs779858366 0.00001
NM_000051.4(ATM):c.8752A>T (p.Met2918Leu) rs1555142873 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8786+15G>A rs866338415 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8787-14G>A rs994348665 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+3A>G rs769427492 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8851-8C>T rs768937303 0.00001
NM_000051.4(ATM):c.8859A>G (p.Leu2953=) rs773994431 0.00001
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047 0.00001
NM_000051.4(ATM):c.8871C>G (p.Leu2957=) rs1555151266 0.00001
NM_000051.4(ATM):c.8875G>T (p.Asp2959Tyr) rs1400589510 0.00001
NM_000051.4(ATM):c.8889T>A (p.Asn2963Lys) rs1476881353 0.00001
NM_000051.4(ATM):c.8902T>C (p.Leu2968=) rs775313366 0.00001
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg) rs763773991 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile) rs786203721 0.00001
NM_000051.4(ATM):c.8940T>G (p.Leu2980=) rs576335919 0.00001
NM_000051.4(ATM):c.8948C>A (p.Thr2983Asn) rs1472935232 0.00001
NM_000051.4(ATM):c.8950C>A (p.Leu2984Met) rs747445236 0.00001
NM_000051.4(ATM):c.8955T>C (p.Asn2985=) rs755561691 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln) rs587778081 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.8987+19A>G rs1403885730 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.8988-7T>G rs1487809821 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val) rs1319582645 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9043G>C (p.Glu3015Gln) rs1591387120 0.00001
NM_000051.4(ATM):c.9049C>T (p.Leu3017=) rs876658991 0.00001
NM_000051.4(ATM):c.9058G>T (p.Val3020Leu) rs1386313592 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile) rs786203183 0.00001
NM_000051.4(ATM):c.9072T>G (p.Thr3024=) rs1308894113 0.00001
NM_000051.4(ATM):c.9087T>G (p.Gly3029=) rs759675675 0.00001
NM_000051.4(ATM):c.9088G>A (p.Gly3030Arg) rs879254215 0.00001
NM_000051.4(ATM):c.9094G>C (p.Val3032Leu) rs587779877 0.00001
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg) rs867893961 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0
NC_000011.10:g.(?_108297287)_(108335961_?)del
NC_000011.10:g.(?_108317363)_(108317531_?)del
NC_000011.10:g.(?_108327635)_(108331567_?)del
NC_000011.10:g.(?_108327645)_(108331557_?)del
NC_000011.10:g.(?_108343212)_(108365518_?)del
NC_000011.10:g.(?_108343222)_(108369099_?)del
NC_000011.10:g.(?_108347269)_(108354884_?)del
NC_000011.10:g.(?_108364109)_(108365518_?)del
NC_000011.10:g.(?_108364109)_(108365528_?)del
NC_000011.10:g.(?_108365072)_(108365518_?)del
NC_000011.10:g.(?_108365076)_(108365514_?)del
NC_000011.10:g.(?_108365082)_(108365508_?)del
NC_000011.10:g.108312411_108312413dup
NC_000011.9:g.(?_108196125)_(108281972_?)del
NC_000011.9:g.(?_108224473)_(108332286_?)del
NM_000051.3(ATM):c.5902_5903insSVAelement rs2084039379
NM_000051.3(ATM):c.6007dup rs1555113505
NM_000051.3(ATM):c.8269del rs1555135341
NM_000051.3(ATM):c.8419delG rs2137023331
NM_000051.3(ATM):c.8851-?_*3591dup3912
NM_000051.4(ATM):c.*1204C>G rs2091350922
NM_000051.4(ATM):c.*1407G>A rs2091360907
NM_000051.4(ATM):c.*1431C>A rs2091362279
NM_000051.4(ATM):c.*1960del rs886047624
NM_000051.4(ATM):c.*238G>C rs2091280654
NM_000051.4(ATM):c.*2541_*2543del rs886047625
NM_000051.4(ATM):c.*2714dup rs532373195
NM_000051.4(ATM):c.*2779del rs886047627
NM_000051.4(ATM):c.*2824G>A rs2091439619
NM_000051.4(ATM):c.*2865G>A rs568150944
NM_000051.4(ATM):c.*2926T>C rs2091445014
NM_000051.4(ATM):c.*2935C>G rs886047628
NM_000051.4(ATM):c.*306C>G rs2091287759
NM_000051.4(ATM):c.*3354T>G rs886047631
NM_000051.4(ATM):c.*3386T>A rs754664818
NM_000051.4(ATM):c.*537A>C rs910689990
NM_000051.4(ATM):c.*540del rs369583811
NM_000051.4(ATM):c.*540dup rs369583811
NM_000051.4(ATM):c.*541_*542del rs886047618
NM_000051.4(ATM):c.*541del rs886047619
NM_000051.4(ATM):c.*627A>G rs1014149927
NM_000051.4(ATM):c.*795C>T rs2091326775
NM_000051.4(ATM):c.*895dup rs200629108
NM_000051.4(ATM):c.5129_5763-1060del
NM_000051.4(ATM):c.5763-1048_5763-1036del
NM_000051.4(ATM):c.5763-1056G>C
NM_000051.4(ATM):c.5763-1080A>G
NM_000051.4(ATM):c.5763-11T>C rs1057520675
NM_000051.4(ATM):c.5763-12A>G rs1057523388
NM_000051.4(ATM):c.5763-13C>T rs1057522554
NM_000051.4(ATM):c.5763-14_5763-13del rs1064794707
NM_000051.4(ATM):c.5763-15C>G
NM_000051.4(ATM):c.5763-17_5763-16del rs1064793040
NM_000051.4(ATM):c.5763-1G>A rs2136011029
NM_000051.4(ATM):c.5763-1G>C
NM_000051.4(ATM):c.5763-20T>G
NM_000051.4(ATM):c.5763-20_5763-18del rs777468149
NM_000051.4(ATM):c.5763-2A>C rs876659489
NM_000051.4(ATM):c.5763-2A>G rs876659489
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5763-3T>C
NM_000051.4(ATM):c.5763-5T>C rs1555110219
NM_000051.4(ATM):c.5763-7T>C rs1555110216
NM_000051.4(ATM):c.5763-7T>G
NM_000051.4(ATM):c.5763-8T>G rs2136010657
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr) rs587781865
NM_000051.4(ATM):c.5765C>A (p.Pro1922His) rs751792004
NM_000051.4(ATM):c.5765del (p.Pro1922fs) rs786202814
NM_000051.4(ATM):c.5766T>C (p.Pro1922=) rs2084022090
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu) rs876658831
NM_000051.4(ATM):c.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.5777C>A (p.Thr1926Lys) rs876660944
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile) rs876660944
NM_000051.4(ATM):c.5779A>G (p.Ile1927Val) rs753218533
NM_000051.4(ATM):c.5783T>G (p.Phe1928Cys) rs2136012463
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.5786A>T (p.Asn1929Ile) rs756661278
NM_000051.4(ATM):c.5787T>C (p.Asn1929=) rs1057520448
NM_000051.4(ATM):c.5789A>T (p.Asp1930Val)
NM_000051.4(ATM):c.5790T>C (p.Asp1930=) rs1555110279
NM_000051.4(ATM):c.5791G>A (p.Ala1931Thr) rs2136012919
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val) rs1243690083
NM_000051.4(ATM):c.5794T>A (p.Phe1932Ile)
NM_000051.4(ATM):c.5794T>C (p.Phe1932Leu) rs2084025775
NM_000051.4(ATM):c.5795T>G (p.Phe1932Cys) rs1591745679
NM_000051.4(ATM):c.5799G>A (p.Trp1933Ter) rs2084026241
NM_000051.4(ATM):c.5799G>C (p.Trp1933Cys) rs2084026241
NM_000051.4(ATM):c.5799G>T (p.Trp1933Cys) rs2084026241
NM_000051.4(ATM):c.5799_5800delinsTT (p.Trp1933Cys)
NM_000051.4(ATM):c.5800C>A (p.Leu1934Met) rs2084026395
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)
NM_000051.4(ATM):c.5801T>C (p.Leu1934Pro)
NM_000051.4(ATM):c.5802G>A (p.Leu1934=)
NM_000051.4(ATM):c.5803G>A (p.Asp1935Asn) rs1299051422
NM_000051.4(ATM):c.5803G>T (p.Asp1935Tyr)
NM_000051.4(ATM):c.5805_5812del (p.Asp1935fs) rs2136013815
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs) rs1591745745
NM_000051.4(ATM):c.5807dup (p.Leu1936fs)
NM_000051.4(ATM):c.5809A>G (p.Asn1937Asp) rs2136013971
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn) rs786203668
NM_000051.4(ATM):c.5815C>T (p.Leu1939=) rs2136014129
NM_000051.4(ATM):c.5816T>G (p.Leu1939Arg) rs1555110340
NM_000051.4(ATM):c.5818G>A (p.Glu1940Lys) rs2084028082
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp) rs2084028240
NM_000051.4(ATM):c.5820A>G (p.Glu1940=) rs2084028240
NM_000051.4(ATM):c.5821G>T (p.Val1941Phe) rs147187700
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5824G>A (p.Ala1942Thr) rs1286443989
NM_000051.4(ATM):c.5827A>T (p.Lys1943Ter)
NM_000051.4(ATM):c.5828A>C (p.Lys1943Thr) rs746676271
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.4(ATM):c.5832A>G (p.Val1944=)
NM_000051.4(ATM):c.5834C>G (p.Ala1945Gly)
NM_000051.4(ATM):c.5834C>T (p.Ala1945Val) rs1356309376
NM_000051.4(ATM):c.5836_5837del (p.Gln1946fs) rs2084030667
NM_000051.4(ATM):c.5838G>T (p.Gln1946His) rs1060501612
NM_000051.4(ATM):c.5839del (p.Ser1947fs) rs2136015541
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
NM_000051.4(ATM):c.5840C>T (p.Ser1947Phe)
NM_000051.4(ATM):c.5844T>C (p.Cys1948=) rs776150043
NM_000051.4(ATM):c.5845G>A (p.Ala1949Thr) rs1555110401
NM_000051.4(ATM):c.5845G>T (p.Ala1949Ser) rs1555110401
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr) rs1591746066
NM_000051.4(ATM):c.5849C>A (p.Ala1950Asp) rs1591746083
NM_000051.4(ATM):c.5849C>T (p.Ala1950Val) rs1591746083
NM_000051.4(ATM):c.5851C>G (p.His1951Asp) rs1060501673
NM_000051.4(ATM):c.5854T>A (p.Phe1952Ile) rs1555110421
NM_000051.4(ATM):c.5855_5856insCACAGCTTTACTCACTT (p.Tyr1957fs) rs2136016053
NM_000051.4(ATM):c.5856T>C (p.Phe1952=) rs864622297
NM_000051.4(ATM):c.5857A>G (p.Thr1953Ala) rs2084033441
NM_000051.4(ATM):c.5858C>A (p.Thr1953Lys)
NM_000051.4(ATM):c.5858C>G (p.Thr1953Arg) rs587781963
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.5861C>G (p.Ala1954Gly) rs1565489916
NM_000051.4(ATM):c.5865A>C (p.Leu1955Phe)
NM_000051.4(ATM):c.5865A>G (p.Leu1955=) rs1555110432
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.5868C>G (p.Leu1956=) rs540054724
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys) rs1591746364
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs) rs1060501657
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=) rs2136017191
NM_000051.4(ATM):c.5872G>C (p.Ala1958Pro)
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val) rs2136017305
NM_000051.4(ATM):c.5874A>G (p.Ala1958=) rs1591746375
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly) rs876660515
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.5887G>C (p.Asp1963His) rs864622148
NM_000051.4(ATM):c.5887del (p.Asp1963fs)
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.4(ATM):c.5889T>C (p.Asp1963=) rs1555110490
NM_000051.4(ATM):c.5889dup (p.Lys1964Ter) rs2136018060
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5891A>G (p.Lys1964Arg) rs1555110503
NM_000051.4(ATM):c.5892_5894del (p.Lys1965del) rs2084037387
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs) rs587781727
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.4(ATM):c.5895A>G (p.Lys1965=) rs1565490147
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn) rs1565490147
NM_000051.4(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn) rs1555110520
NM_000051.4(ATM):c.5898_5901dup (p.Asp1968fs)
NM_000051.4(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.4(ATM):c.5901G>A (p.Met1967Ile) rs2136018731
NM_000051.4(ATM):c.5903A>G (p.Asp1968Gly) rs2136018837
NM_000051.4(ATM):c.5905G>T (p.Asp1969Tyr) rs1156785681
NM_000051.4(ATM):c.5906A>C (p.Asp1969Ala)
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg) rs1555110568
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5912A>T (p.Glu1971Val) rs1565490253
NM_000051.4(ATM):c.5913G>T (p.Glu1971Asp) rs2084040593
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.5916A>G (p.Lys1972=) rs2136019609
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs) rs2084040947
NM_000051.4(ATM):c.5917A>C (p.Arg1973=) rs786202089
NM_000051.4(ATM):c.5918+12T>C rs2084042843
NM_000051.4(ATM):c.5918+13A>C
NM_000051.4(ATM):c.5918+14G>T rs2136020496
NM_000051.4(ATM):c.5918+16A>C
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.5918+17T>G rs2136020727
NM_000051.4(ATM):c.5918+18T>G
NM_000051.4(ATM):c.5918+1G>A rs1591746871
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.5918+21del rs1350577892
NM_000051.4(ATM):c.5918+2T>A
NM_000051.4(ATM):c.5918+3A>G rs1555110595
NM_000051.4(ATM):c.5918+6G>A rs2084041898
NM_000051.4(ATM):c.5918+7G>C rs1423323603
NM_000051.4(ATM):c.5918+7del rs2136020073
NM_000051.4(ATM):c.5918+8A>C rs1401825950
NM_000051.4(ATM):c.5918+8A>G
NM_000051.4(ATM):c.5918+8A>T
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5919-11G>A rs1555111746
NM_000051.4(ATM):c.5919-11G>C
NM_000051.4(ATM):c.5919-13T>C rs1555111740
NM_000051.4(ATM):c.5919-16T>C
NM_000051.4(ATM):c.5919-18_5919-15dup rs2136057696
NM_000051.4(ATM):c.5919-20G>A
NM_000051.4(ATM):c.5919-20G>T
NM_000051.4(ATM):c.5919-2A>C rs746623393
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.5919-49C>T rs2084236076
NM_000051.4(ATM):c.5919-7_5919-6insCTGT rs1239985928
NM_000051.4(ATM):c.5921G>A (p.Ser1974Asn) rs2084241093
NM_000051.4(ATM):c.5923C>A (p.Leu1975Ile) rs2084241290
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr) rs2084241683
NM_000051.4(ATM):c.5926G>C (p.Ala1976Pro) rs2084241683
NM_000051.4(ATM):c.5927C>G (p.Ala1976Gly)
NM_000051.4(ATM):c.5927C>T (p.Ala1976Val) rs1197973623
NM_000051.4(ATM):c.5931T>A (p.Phe1977Leu) rs2136059294
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5935G>A (p.Glu1979Lys)
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter) rs1555111763
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
NM_000051.4(ATM):c.5939del (p.Gly1980fs)
NM_000051.4(ATM):c.5943C>T (p.Ser1981=) rs769252226
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter) rs1555111775
NM_000051.4(ATM):c.5945dup (p.Ser1983fs) rs2136060057
NM_000051.4(ATM):c.5946G>A (p.Gln1982=) rs1591758349
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn) rs659243
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.4(ATM):c.5951C>G (p.Thr1984Arg) rs770722380
NM_000051.4(ATM):c.5952A>G (p.Thr1984=)
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala) rs879254252
NM_000051.4(ATM):c.5954C>T (p.Thr1985Ile) rs1207215818
NM_000051.4(ATM):c.5954_5998dup (p.Ile1999_Ser2000insThrIleSerSerLeuSerGluLysSerLysGluGluThrGlyIle) rs2136060457
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.5957T>C (p.Ile1986Thr) rs2084246805
NM_000051.4(ATM):c.5958T>A (p.Ile1986=) rs2136060867
NM_000051.4(ATM):c.5959del (p.Ser1987fs) rs1555111808
NM_000051.4(ATM):c.5959dup (p.Ser1987fs) rs1555111808
NM_000051.4(ATM):c.5961T>C (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5964C>G (p.Ser1988Arg) rs774260725
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.4(ATM):c.5967G>A (p.Leu1989=) rs1555111833
NM_000051.4(ATM):c.5968A>C (p.Ser1990Arg) rs1275100503
NM_000051.4(ATM):c.5968A>G (p.Ser1990Gly)
NM_000051.4(ATM):c.5970T>A (p.Ser1990Arg) rs2084248780
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5971dup (p.Glu1991fs) rs1591758604
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly) rs866824608
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp) rs587782274
NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg) rs150757822
NM_000051.4(ATM):c.5975_5977del (p.Lys1992del) rs1591758642
NM_000051.4(ATM):c.5977A>C (p.Ser1993Arg) rs1591758703
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys) rs1591758642
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.5978G>A (p.Ser1993Asn) rs1406659883
NM_000051.4(ATM):c.5978G>T (p.Ser1993Ile) rs1406659883
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs) rs2136061889
NM_000051.4(ATM):c.5979T>C (p.Ser1993=) rs1591758734
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.5980A>C (p.Lys1994Gln) rs1565493693
NM_000051.4(ATM):c.5980A>G (p.Lys1994Glu)
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
NM_000051.4(ATM):c.5982_5983insAGTAAGAAAAAAAGTAAA (p.Lys1994_Glu1995insSerLysLysLysSerLys)
NM_000051.4(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.4(ATM):c.5983GAA[1] (p.Glu1996del) rs1555111872
NM_000051.4(ATM):c.5985A>G (p.Glu1995=) rs2084252730
NM_000051.4(ATM):c.5988A>T (p.Glu1996Asp) rs1591758852
NM_000051.4(ATM):c.5989A>C (p.Thr1997Pro) rs1591758871
NM_000051.4(ATM):c.5989A>G (p.Thr1997Ala)
NM_000051.4(ATM):c.5990C>T (p.Thr1997Ile) rs2084253742
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs) rs2084254630
NM_000051.4(ATM):c.5993G>A (p.Gly1998Glu) rs1188125296
NM_000051.4(ATM):c.5995A>C (p.Ile1999Leu) rs1201228506
NM_000051.4(ATM):c.5995A>G (p.Ile1999Val) rs1201228506
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys) rs2136063107
NM_000051.4(ATM):c.5996T>C (p.Ile1999Thr)
NM_000051.4(ATM):c.5999G>T (p.Ser2000Ile) rs775921052
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser) rs1555111910
NM_000051.4(ATM):c.6003A>G (p.Leu2001=) rs1057523413
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.4(ATM):c.6005A>G (p.Gln2002Arg) rs1591759049
NM_000051.4(ATM):c.6006+10A>G rs2136063971
NM_000051.4(ATM):c.6006+11G>C rs1466545116
NM_000051.4(ATM):c.6006+17C>T
NM_000051.4(ATM):c.6006+19A>G
NM_000051.4(ATM):c.6006+1G>A rs786202016
NM_000051.4(ATM):c.6006+1G>C rs786202016
NM_000051.4(ATM):c.6006+1G>T
NM_000051.4(ATM):c.6006+20T>G
NM_000051.4(ATM):c.6006+3A>C
NM_000051.4(ATM):c.6006+4A>C
NM_000051.4(ATM):c.6006+4A>G
NM_000051.4(ATM):c.6006+4_6006+5del rs879254108
NM_000051.4(ATM):c.6006+6T>C rs1565493858
NM_000051.4(ATM):c.6006+7A>G rs1060504289
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6006G>C (p.Gln2002His) rs1591759073
NM_000051.4(ATM):c.6007-10A>T rs373395916
NM_000051.4(ATM):c.6007-11C>T rs764191468
NM_000051.4(ATM):c.6007-13T>G
NM_000051.4(ATM):c.6007-17T>C rs2136116248
NM_000051.4(ATM):c.6007-19G>T
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.6007-20T>A
NM_000051.4(ATM):c.6007-27C>T rs1164649351
NM_000051.4(ATM):c.6007-2A>G rs2136117225
NM_000051.4(ATM):c.6007-30C>T rs1425802573
NM_000051.4(ATM):c.6007-33C>T rs1191788183
NM_000051.4(ATM):c.6007-34C>T rs1591775892
NM_000051.4(ATM):c.6007-3C>G rs2084583739
NM_000051.4(ATM):c.6007-4T>G rs1591776406
NM_000051.4(ATM):c.6007-5T>C rs863224294
NM_000051.4(ATM):c.6007-6T>G rs2136116961
NM_000051.4(ATM):c.6007-7T>C
NM_000051.4(ATM):c.6007-8G>C rs1057524058
NM_000051.4(ATM):c.6007-9T>C rs1591776333
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.4(ATM):c.6008A>G (p.Asp2003Gly) rs2136117409
NM_000051.4(ATM):c.6009T>C (p.Asp2003=) rs878853526
NM_000051.4(ATM):c.6009T>G (p.Asp2003Glu) rs878853526
NM_000051.4(ATM):c.6010C>A (p.Leu2004Ile) rs1060501561
NM_000051.4(ATM):c.6011T>C (p.Leu2004Pro) rs1064795932
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg) rs1064795932
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.4(ATM):c.6015C>G (p.Leu2005=)
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.6016T>C (p.Leu2006=) rs1555113531
NM_000051.4(ATM):c.6016T>G (p.Leu2006Val) rs1555113531
NM_000051.4(ATM):c.6018A>G (p.Leu2006=) rs876659301
NM_000051.4(ATM):c.6021A>T (p.Glu2007Asp) rs1555113549
NM_000051.4(ATM):c.6022A>G (p.Ile2008Val) rs2084586855
NM_000051.4(ATM):c.6023T>C (p.Ile2008Thr) rs876660227
NM_000051.4(ATM):c.6024C>G (p.Ile2008Met) rs2136118296
NM_000051.4(ATM):c.6024del (p.Tyr2009fs) rs2136118352
NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn) rs199586999
NM_000051.4(ATM):c.6026A>G (p.Tyr2009Cys) rs2136118434
NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter) rs1555113567
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
NM_000051.4(ATM):c.6027C>T (p.Tyr2009=)
NM_000051.4(ATM):c.6028A>G (p.Arg2010Gly) rs2136118563
NM_000051.4(ATM):c.6029del (p.Arg2010fs)
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met) rs1591776713
NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg) rs2084587881
NM_000051.4(ATM):c.6038G>C (p.Gly2013Ala)
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys) rs375783941
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6041A>G (p.Glu2014Gly)
NM_000051.4(ATM):c.6043C>G (p.Pro2015Ala)
NM_000051.4(ATM):c.6044C>T (p.Pro2015Leu) rs2084588823
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6047A>T (p.Asp2016Val) rs587781302
NM_000051.4(ATM):c.6048T>C (p.Asp2016=) rs2136119590
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs) rs1591776808
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.6050_6057delinsTA (p.Ser2017_Tyr2019delinsIle) rs1565498913
NM_000051.4(ATM):c.6051T>G (p.Ser2017Arg) rs2084589926
NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe)
NM_000051.4(ATM):c.6052T>C (p.Leu2018=) rs2136119802
NM_000051.4(ATM):c.6053T>C (p.Leu2018Ser) rs755694394
NM_000051.4(ATM):c.6053T>G (p.Leu2018Trp)
NM_000051.4(ATM):c.6053_6055del (p.Leu2018del)
NM_000051.4(ATM):c.6054G>T (p.Leu2018Phe)
NM_000051.4(ATM):c.6054_6055del (p.Tyr2019fs)
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His) rs1591776885
NM_000051.4(ATM):c.6056A>C (p.Tyr2019Ser) rs876658415
NM_000051.4(ATM):c.6058G>C (p.Gly2020Arg) rs2084590997
NM_000051.4(ATM):c.6059G>A (p.Gly2020Asp) rs1591776938
NM_000051.4(ATM):c.6059G>T (p.Gly2020Val) rs1591776938
NM_000051.4(ATM):c.6060C>G (p.Gly2020=) rs2136120253
NM_000051.4(ATM):c.6061T>C (p.Cys2021Arg) rs1591776961
NM_000051.4(ATM):c.6063T>C (p.Cys2021=)
NM_000051.4(ATM):c.6065G>A (p.Gly2022Asp) rs1591777028
NM_000051.4(ATM):c.6066T>A (p.Gly2022=)
NM_000051.4(ATM):c.6067G>C (p.Gly2023Arg)
NM_000051.4(ATM):c.6070G>A (p.Gly2024Arg) rs1565499041
NM_000051.4(ATM):c.6070G>T (p.Gly2024Trp) rs1565499041
NM_000051.4(ATM):c.6071G>A (p.Gly2024Glu) rs1060501564
NM_000051.4(ATM):c.6072G>A (p.Gly2024=) rs1591777129
NM_000051.4(ATM):c.6075G>A (p.Lys2025=)
NM_000051.4(ATM):c.6075G>T (p.Lys2025Asn) rs1591777158
NM_000051.4(ATM):c.6077T>C (p.Met2026Thr) rs2136121082
NM_000051.4(ATM):c.6080T>G (p.Leu2027Ter) rs2136121259
NM_000051.4(ATM):c.6080del (p.Leu2027fs) rs1060501548
NM_000051.4(ATM):c.6082C>A (p.Gln2028Lys) rs876659454
NM_000051.4(ATM):c.6082C>G (p.Gln2028Glu) rs876659454
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg) rs863224575
NM_000051.4(ATM):c.6086C>T (p.Pro2029Leu) rs863224575
NM_000051.4(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.4(ATM):c.6087del (p.Ile2030fs)
NM_000051.4(ATM):c.6091A>C (p.Thr2031Pro) rs1591777327
NM_000051.4(ATM):c.6092C>G (p.Thr2031Ser) rs1555113613
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+10A>G
NM_000051.4(ATM):c.6095+11T>G rs2136122672
NM_000051.4(ATM):c.6095+13T>C rs2136122778
NM_000051.4(ATM):c.6095+17T>C rs2136122949
NM_000051.4(ATM):c.6095+18A>T
NM_000051.4(ATM):c.6095+20A>C rs2136123062
NM_000051.4(ATM):c.6095+2T>A
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6095+4A>C rs1555113632
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6095+5del rs1555113628
NM_000051.4(ATM):c.6095+6T>A rs1057522992
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6095+7T>A
NM_000051.4(ATM):c.6095+7T>C
NM_000051.4(ATM):c.6095+7T>G rs2136122461
NM_000051.4(ATM):c.6095+9C>A
NM_000051.4(ATM):c.6095+9del rs2136122631
NM_000051.4(ATM):c.6095G>T (p.Arg2032Ile) rs139770721
NM_000051.4(ATM):c.6096-10T>C rs2136126453
NM_000051.4(ATM):c.6096-12C>T
NM_000051.4(ATM):c.6096-15A>C
NM_000051.4(ATM):c.6096-15A>T
NM_000051.4(ATM):c.6096-16C>A
NM_000051.4(ATM):c.6096-18C>G
NM_000051.4(ATM):c.6096-18C>T
NM_000051.4(ATM):c.6096-1G>C rs1591778339
NM_000051.4(ATM):c.6096-20T>C rs746766702
NM_000051.4(ATM):c.6096-20T>G rs746766702
NM_000051.4(ATM):c.6096-2A>C
NM_000051.4(ATM):c.6096-3T>G rs748380897
NM_000051.4(ATM):c.6096-3del
NM_000051.4(ATM):c.6096-5T>C
NM_000051.4(ATM):c.6096-7C>G rs1173338615
NM_000051.4(ATM):c.6096-7C>T
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6096A>G (p.Arg2032=) rs1591778359
NM_000051.4(ATM):c.6096A>T (p.Arg2032Ser) rs1591778359
NM_000051.4(ATM):c.6097C>G (p.Leu2033Val) rs769813736
NM_000051.4(ATM):c.6098T>C (p.Leu2033Pro) rs876660681
NM_000051.4(ATM):c.6099dup (p.Arg2034fs)
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.6101G>C (p.Arg2034Pro) rs3218670
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.6106T>G (p.Tyr2036Asp) rs1591778483
NM_000051.4(ATM):c.6107A>G (p.Tyr2036Cys) rs786204141
NM_000051.4(ATM):c.6108T>A (p.Tyr2036Ter) rs3092826
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter) rs3092826
NM_000051.4(ATM):c.6109G>A (p.Glu2037Lys)
NM_000051.4(ATM):c.6109G>C (p.Glu2037Gln) rs1448711296
NM_000051.4(ATM):c.6110A>G (p.Glu2037Gly) rs2084612043
NM_000051.4(ATM):c.6112C>A (p.His2038Asn) rs1060501643
NM_000051.4(ATM):c.6112C>G (p.His2038Asp) rs1060501643
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr) rs1060501643
NM_000051.4(ATM):c.6113A>G (p.His2038Arg) rs2084612536
NM_000051.4(ATM):c.6114C>A (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6115G>T (p.Glu2039Ter) rs864622251
NM_000051.4(ATM):c.6116A>G (p.Glu2039Gly) rs876659558
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val) rs876659558
NM_000051.4(ATM):c.6117A>G (p.Glu2039=) rs2136127840
NM_000051.4(ATM):c.6118G>C (p.Ala2040Pro) rs863224576
NM_000051.4(ATM):c.6118_6119delinsAT (p.Ala2040Ile) rs1555113730
NM_000051.4(ATM):c.6119C>A (p.Ala2040Glu) rs1299506506
NM_000051.4(ATM):c.6119C>G (p.Ala2040Gly)
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.6122T>A (p.Met2041Lys)
NM_000051.4(ATM):c.6123G>A (p.Met2041Ile) rs1555113740
NM_000051.4(ATM):c.6124T>C (p.Trp2042Arg) rs1591778747
NM_000051.4(ATM):c.6125G>A (p.Trp2042Ter) rs1565499657
NM_000051.4(ATM):c.6125G>T (p.Trp2042Leu) rs1565499657
NM_000051.4(ATM):c.6126G>A (p.Trp2042Ter) rs2084615312
NM_000051.4(ATM):c.6126G>C (p.Trp2042Cys) rs2084615312
NM_000051.4(ATM):c.6127_6131dup (p.Leu2046fs)
NM_000051.4(ATM):c.6127_6136delinsT (p.Gly2043_Ala2045del) rs1064792941
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val) rs753384717
NM_000051.4(ATM):c.6129C>T (p.Gly2043=)
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr) rs2084616257
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6135C>T (p.Ala2045=) rs1555113771
NM_000051.4(ATM):c.6136C>G (p.Leu2046Val) rs1456877872
NM_000051.4(ATM):c.6136del (p.Ala2045_Leu2046insTer)
NM_000051.4(ATM):c.6138A>G (p.Leu2046=) rs1591778887
NM_000051.4(ATM):c.6139G>A (p.Val2047Ile) rs1591778897
NM_000051.4(ATM):c.6139_6141dup (p.Val2047_Thr2048insVal) rs1591778872
NM_000051.4(ATM):c.6139_6146del (p.Leu2046_Val2047insTer) rs2084617417
NM_000051.4(ATM):c.6140T>G (p.Val2047Gly) rs878853528
NM_000051.4(ATM):c.6141A>G (p.Val2047=) rs978540099
NM_000051.4(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.4(ATM):c.6145T>C (p.Tyr2049His)
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6146A>G (p.Tyr2049Cys) rs1233757467
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6146dup (p.Tyr2049Ter) rs2084619584
NM_000051.4(ATM):c.6150C>T (p.Asp2050=) rs1057520805
NM_000051.4(ATM):c.6151C>A (p.Leu2051Ile) rs1591779081
NM_000051.4(ATM):c.6151C>T (p.Leu2051Phe) rs1591779081
NM_000051.4(ATM):c.6153C>G (p.Leu2051=) rs876658452
NM_000051.4(ATM):c.6154G>T (p.Glu2052Ter)
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly) rs1591779138
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg) rs2136130260
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
NM_000051.4(ATM):c.6160G>A (p.Ala2054Thr) rs587779853
NM_000051.4(ATM):c.6161C>G (p.Ala2054Gly)
NM_000051.4(ATM):c.6162A>G (p.Ala2054=)
NM_000051.4(ATM):c.6162_6173delinsG (p.Ile2055fs)
NM_000051.4(ATM):c.6163_6165del (p.Ile2055del) rs1565499855
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs) rs2084621452
NM_000051.4(ATM):c.6165C>A (p.Ile2055=) rs779848229
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.4(ATM):c.6168C>G (p.Pro2056=)
NM_000051.4(ATM):c.6168C>T (p.Pro2056=) rs1057520449
NM_000051.4(ATM):c.6169T>C (p.Ser2057Pro) rs2084622401
NM_000051.4(ATM):c.6170C>T (p.Ser2057Leu) rs1591779290
NM_000051.4(ATM):c.6171A>G (p.Ser2057=)
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala) rs1329479941
NM_000051.4(ATM):c.6177dup (p.Arg2060fs) rs1591779373
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser) rs587778078
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6179G>T (p.Arg2060Leu) rs376521407
NM_000051.4(ATM):c.6180C>A (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6180C>T (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter) rs1555113845
NM_000051.4(ATM):c.6182A>C (p.Gln2061Pro) rs1591779456
NM_000051.4(ATM):c.6184G>T (p.Ala2062Ser) rs2136131994
NM_000051.4(ATM):c.6184dup (p.Ala2062fs) rs2136131958
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter) rs2136132184
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.4(ATM):c.6191T>A (p.Ile2064Asn) rs1555113854
NM_000051.4(ATM):c.6191T>C (p.Ile2064Thr) rs1555113854
NM_000051.4(ATM):c.6192C>G (p.Ile2064Met)
NM_000051.4(ATM):c.6195T>C (p.Ile2065=) rs756309395
NM_000051.4(ATM):c.6196C>A (p.Gln2066Lys) rs1361215494
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu) rs1361215494
NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter) rs1361215494
NM_000051.4(ATM):c.6196_6198del (p.Gln2066del) rs2136132718
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.4(ATM):c.6197_6198dup (p.Ala2067fs)
NM_000051.4(ATM):c.6198+11del
NM_000051.4(ATM):c.6198+11dup rs2136133315
NM_000051.4(ATM):c.6198+12C>A
NM_000051.4(ATM):c.6198+12C>T
NM_000051.4(ATM):c.6198+17A>C
NM_000051.4(ATM):c.6198+17A>G
NM_000051.4(ATM):c.6198+18T>C
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6198+1del rs2136132894
NM_000051.4(ATM):c.6198+20T>C
NM_000051.4(ATM):c.6198+2T>C rs1555113882
NM_000051.4(ATM):c.6198+2T>G rs1555113882
NM_000051.4(ATM):c.6198+3A>C rs786202092
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6198+4C>T rs749370650
NM_000051.4(ATM):c.6198+8T>G rs2136133343
NM_000051.4(ATM):c.6198+9_6198+12del rs1451367847
NM_000051.4(ATM):c.6198G>A (p.Gln2066=) rs786203341
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6199-10T>G rs2084770572
NM_000051.4(ATM):c.6199-1G>A
NM_000051.4(ATM):c.6199-1G>T rs1591788932
NM_000051.4(ATM):c.6199-2A>C rs1060501570
NM_000051.4(ATM):c.6199-2A>T rs1060501570
NM_000051.4(ATM):c.6199-2del rs1555114545
NM_000051.4(ATM):c.6199-4T>G rs2136162102
NM_000051.4(ATM):c.6199-5T>A rs1555114533
NM_000051.4(ATM):c.6199-6G>C rs1555114529
NM_000051.4(ATM):c.6199-6G>T rs1555114529
NM_000051.4(ATM):c.6199-7T>A rs1060501631
NM_000051.4(ATM):c.6199-8C>T rs1254806505
NM_000051.4(ATM):c.6199-9C>A rs1060501611
NM_000051.4(ATM):c.6199-9C>G
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.6201C>T (p.Ala2067=) rs2136162415
NM_000051.4(ATM):c.6202T>C (p.Leu2068=) rs2136162514
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6204_6205delinsAA (p.Gln2069Lys)
NM_000051.4(ATM):c.6205C>G (p.Gln2069Glu) rs1555114563
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter) rs1555114563
NM_000051.4(ATM):c.6206A>G (p.Gln2069Arg) rs1591789003
NM_000051.4(ATM):c.6207G>C (p.Gln2069His) rs2136162810
NM_000051.4(ATM):c.6208A>G (p.Asn2070Asp) rs2136162879
NM_000051.4(ATM):c.6208A>T (p.Asn2070Tyr)
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.6215G>A (p.Gly2072Glu) rs1183544857
NM_000051.4(ATM):c.6216A>T (p.Gly2072=) rs2136163345
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val) rs767406075
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6217del (p.Leu2073fs)
NM_000051.4(ATM):c.6218T>A (p.Leu2073His)
NM_000051.4(ATM):c.6218T>C (p.Leu2073Pro) rs1555114582
NM_000051.4(ATM):c.6218_6219delinsAA (p.Leu2073Gln)
NM_000051.4(ATM):c.6220T>C (p.Cys2074Arg) rs2136163545
NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter) rs1565502708
NM_000051.4(ATM):c.6224A>C (p.His2075Pro) rs1555114602
NM_000051.4(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.4(ATM):c.6224dup (p.His2075fs)
NM_000051.4(ATM):c.6225T>C (p.His2075=)
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6229C>A (p.Leu2077Ile) rs1591789195
NM_000051.4(ATM):c.6229C>G (p.Leu2077Val) rs1591789195
NM_000051.4(ATM):c.6229C>T (p.Leu2077Phe)
NM_000051.4(ATM):c.6230T>C (p.Leu2077Pro)
NM_000051.4(ATM):c.6232T>A (p.Ser2078Thr)
NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe) rs786204173
NM_000051.4(ATM):c.6235_6236insAAG (p.Ser2078_Val2079insGlu) rs1591789280
NM_000051.4(ATM):c.6236T>C (p.Val2079Ala)
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys) rs587779855
NM_000051.4(ATM):c.6239_6240del (p.Tyr2080fs) rs878853529
NM_000051.4(ATM):c.6240T>C (p.Tyr2080=) rs1383950977
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter) rs2136164699
NM_000051.4(ATM):c.6243A>T (p.Leu2081Phe) rs2084779894
NM_000051.4(ATM):c.6245A>C (p.Lys2082Thr) rs2136164813
NM_000051.4(ATM):c.6245A>T (p.Lys2082Ile)
NM_000051.4(ATM):c.6246A>T (p.Lys2082Asn) rs745977589
NM_000051.4(ATM):c.6247G>C (p.Gly2083Arg) rs1060501586
NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter) rs1060501586
NM_000051.4(ATM):c.6248G>A (p.Gly2083Glu) rs1060501559
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala) rs1060501559
NM_000051.4(ATM):c.6248G>T (p.Gly2083Val) rs1060501559
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val) rs772608345
NM_000051.4(ATM):c.6252G>A (p.Leu2084=) rs876658700
NM_000051.4(ATM):c.6253G>C (p.Asp2085His) rs730881379
NM_000051.4(ATM):c.6254A>T (p.Asp2085Val) rs2136165263
NM_000051.4(ATM):c.6256T>A (p.Tyr2086Asn) rs2084781602
NM_000051.4(ATM):c.6256T>C (p.Tyr2086His) rs2084781602
NM_000051.4(ATM):c.6256_6258del (p.Tyr2086del)
NM_000051.4(ATM):c.6256_6261del (p.Tyr2086_Glu2087del) rs1555114670
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.6260A>C (p.Glu2087Ala)
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.6263A>G (p.Asn2088Ser) rs2084783116
NM_000051.4(ATM):c.6263dup (p.Asn2088fs) rs2084782760
NM_000051.4(ATM):c.6264T>C (p.Asn2088=) rs747372417
NM_000051.4(ATM):c.6267A>C (p.Lys2089Asn) rs863224577
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn) rs915524411
NM_000051.4(ATM):c.6268G>T (p.Asp2090Tyr) rs915524411
NM_000051.4(ATM):c.6269A>C (p.Asp2090Ala) rs1555114696
NM_000051.4(ATM):c.6269_6275dup (p.Cys2092Ter)
NM_000051.4(ATM):c.6271T>A (p.Trp2091Arg) rs2084784301
NM_000051.4(ATM):c.6271T>C (p.Trp2091Arg) rs2084784301
NM_000051.4(ATM):c.6271T>G (p.Trp2091Gly) rs2084784301
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter) rs1060501712
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter) rs2136166539
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6275G>T (p.Cys2092Phe)
NM_000051.4(ATM):c.6276T>C (p.Cys2092=) rs2136166722
NM_000051.4(ATM):c.6279T>C (p.Pro2093=) rs141370828
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys) rs1565503182
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6282A>G (p.Glu2094=)
NM_000051.4(ATM):c.6283C>A (p.Leu2095Ile)
NM_000051.4(ATM):c.6283C>T (p.Leu2095=) 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.6286GAA[1] (p.Glu2097del)
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly) rs1565503246
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.6293T>G (p.Leu2098Arg) rs587780631
NM_000051.4(ATM):c.6295C>G (p.His2099Asp) rs2084787307
NM_000051.4(ATM):c.6295del (p.His2099fs) rs2136167830
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6300C>T (p.Tyr2100=)
NM_000051.4(ATM):c.6301C>A (p.Gln2101Lys) rs876660164
NM_000051.4(ATM):c.6301C>G (p.Gln2101Glu) rs876660164
NM_000051.4(ATM):c.6302A>C (p.Gln2101Pro) rs1565503316
NM_000051.4(ATM):c.6303A>G (p.Gln2101=) rs876659325
NM_000051.4(ATM):c.6304G>T (p.Ala2102Ser) rs1565503340
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val) rs1591790037
NM_000051.4(ATM):c.6306A>C (p.Ala2102=) rs2136168477
NM_000051.4(ATM):c.6309A>C (p.Ala2103=)
NM_000051.4(ATM):c.6309A>G (p.Ala2103=) rs2084789463
NM_000051.4(ATM):c.6310T>C (p.Trp2104Arg)
NM_000051.4(ATM):c.6310T>G (p.Trp2104Gly)
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter) rs1064794143
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser) rs1064794143
NM_000051.4(ATM):c.6312G>C (p.Trp2104Cys)
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly) rs879253983
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.6321G>A (p.Met2107Ile) rs765763407
NM_000051.4(ATM):c.6321G>C (p.Met2107Ile)
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.6323A>T (p.Gln2108Leu) rs773891864
NM_000051.4(ATM):c.6323dup (p.Trp2109fs) rs2136169465
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)
NM_000051.4(ATM):c.6324G>T (p.Gln2108His) rs2136169496
NM_000051.4(ATM):c.6325T>C (p.Trp2109Arg) rs1060501654
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter) rs867760244
NM_000051.4(ATM):c.6328G>C (p.Asp2110His) rs2136169784
NM_000051.4(ATM):c.6328dup (p.Asp2110fs)
NM_000051.4(ATM):c.6330C>G (p.Asp2110Glu) rs759029705
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6332A>C (p.His2111Pro) rs876658300
NM_000051.4(ATM):c.6333_6341dup (p.Ser2114_Val2115insCysThrSer) rs2084792995
NM_000051.4(ATM):c.6334T>A (p.Cys2112Ser) rs2136170176
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr) rs1591790360
NM_000051.4(ATM):c.6335G>T (p.Cys2112Phe) rs1591790360
NM_000051.4(ATM):c.6337A>C (p.Thr2113Pro)
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
NM_000051.4(ATM):c.6339T>C (p.Thr2113=)
NM_000051.4(ATM):c.6341C>A (p.Ser2114Tyr) rs1591790425
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.4(ATM):c.6345_6347+7dup rs2136170862
NM_000051.4(ATM):c.6346A>C (p.Ser2116Arg) rs2084794474
NM_000051.4(ATM):c.6347+10T>A rs2136171374
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000051.4(ATM):c.6347+3A>G rs1555114854
NM_000051.4(ATM):c.6347+4A>G rs1342227995
NM_000051.4(ATM):c.6347+9T>G
NM_000051.4(ATM):c.6348-12C>T rs1057521664
NM_000051.4(ATM):c.6348-14_6348-10del
NM_000051.4(ATM):c.6348-17T>G rs2136217719
NM_000051.4(ATM):c.6348-18C>A
NM_000051.4(ATM):c.6348-18C>G rs1175043012
NM_000051.4(ATM):c.6348-18C>T
NM_000051.4(ATM):c.6348-19T>A
NM_000051.4(ATM):c.6348-19T>C
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6348-2A>G rs864622367
NM_000051.4(ATM):c.6348-4A>G rs1591099510
NM_000051.4(ATM):c.6348-5C>T rs1388651064
NM_000051.4(ATM):c.6348-7C>G rs2085074288
NM_000051.4(ATM):c.6348-7C>T
NM_000051.4(ATM):c.6348-8T>A
NM_000051.4(ATM):c.6348-989del
NM_000051.4(ATM):c.6348-9A>G rs1591099349
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6349A>G (p.Lys2117Glu)
NM_000051.4(ATM):c.6350AAG[1] (p.Glu2118del) rs2085076333
NM_000051.4(ATM):c.6351del (p.Glu2118fs)
NM_000051.4(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.4(ATM):c.6353A>T (p.Glu2118Val) rs2136218659
NM_000051.4(ATM):c.6354A>G (p.Glu2118=) rs2136218685
NM_000051.4(ATM):c.6355G>A (p.Val2119Ile)
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6357A>G (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6357A>T (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6359A>G (p.Glu2120Gly) rs1591099714
NM_000051.4(ATM):c.6360A>T (p.Glu2120Asp) rs1565508657
NM_000051.4(ATM):c.6364_6365del (p.Thr2122fs) rs2136219026
NM_000051.4(ATM):c.6365C>T (p.Thr2122Ile)
NM_000051.4(ATM):c.6367A>C (p.Ser2123Arg)
NM_000051.4(ATM):c.6368G>C (p.Ser2123Thr) rs1064794104
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs) rs1555116381
NM_000051.4(ATM):c.6370dup (p.Tyr2124fs) rs2136219240
NM_000051.4(ATM):c.6371A>G (p.Tyr2124Cys)
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=) rs904589402
NM_000051.4(ATM):c.6373del (p.His2125fs) rs878853530
NM_000051.4(ATM):c.6374A>T (p.His2125Leu) rs730881381
NM_000051.4(ATM):c.6375T>C (p.His2125=) rs1591099942
NM_000051.4(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.4(ATM):c.6380C>A (p.Ser2127Ter)
NM_000051.4(ATM):c.6380C>G (p.Ser2127Ter) 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.6384G>A (p.Leu2128=) rs1060501629
NM_000051.4(ATM):c.6384G>C (p.Leu2128Phe) rs1060501629
NM_000051.4(ATM):c.6384G>T (p.Leu2128Phe) rs1060501629
NM_000051.4(ATM):c.6385T>C (p.Tyr2129His) rs876658542
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter) rs2085081161
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=) rs2085081161
NM_000051.4(ATM):c.6388A>C (p.Asn2130His) rs2085081321
NM_000051.4(ATM):c.6388_6392del (p.Asn2130fs) rs2136220112
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser) rs2136220181
NM_000051.4(ATM):c.6390T>C (p.Asn2130=) rs1555116433
NM_000051.4(ATM):c.6391G>C (p.Ala2131Pro)
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.4(ATM):c.6393T>C (p.Ala2131=) rs1591100144
NM_000051.4(ATM):c.6394C>G (p.Leu2132Val) rs551408889
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.4(ATM):c.6398_6401dup (p.Leu2135fs)
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.6403C>G (p.Leu2135Val) rs2085083391
NM_000051.4(ATM):c.6403C>T (p.Leu2135=)
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs) rs2085083193
NM_000051.4(ATM):c.6403del (p.Ser2134_Leu2135insTer)
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro) rs1591100266
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.4(ATM):c.6405A>G (p.Leu2135=) rs2085084061
NM_000051.4(ATM):c.6405A>T (p.Leu2135=)
NM_000051.4(ATM):c.6406dup (p.Arg2136fs) rs2136220927
NM_000051.4(ATM):c.6407G>A (p.Arg2136Lys) rs2085084255
NM_000051.4(ATM):c.6409G>C (p.Asp2137His) rs1389038955
NM_000051.4(ATM):c.6411_6414del (p.Asp2137fs)
NM_000051.4(ATM):c.6412A>C (p.Arg2138=) rs752069869
NM_000051.4(ATM):c.6414A>G (p.Arg2138=) rs1591100396
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6417A>G (p.Glu2139=) rs2136221364
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu) rs1397647612
NM_000051.4(ATM):c.6419dup (p.Ser2141fs)
NM_000051.4(ATM):c.6420C>G (p.Phe2140Leu) rs587780635
NM_000051.4(ATM):c.6422C>G (p.Ser2141Cys)
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6425C>T (p.Thr2142Ile) rs1809463261
NM_000051.4(ATM):c.6425_6435del (p.Thr2142fs) rs2085086552
NM_000051.4(ATM):c.6426A>G (p.Thr2142=) rs1591100486
NM_000051.4(ATM):c.6429T>C (p.Phe2143=) rs2136221811
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys) rs1555116507
NM_000051.4(ATM):c.6432T>C (p.Tyr2144=)
NM_000051.4(ATM):c.6433G>T (p.Glu2145Ter)
NM_000051.4(ATM):c.6434A>C (p.Glu2145Ala) rs1255710647
NM_000051.4(ATM):c.6436A>G (p.Ser2146Gly) rs2136222103
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn) rs56815840
NM_000051.4(ATM):c.6438T>A (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6438T>G (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6439C>G (p.Leu2147Val)
NM_000051.4(ATM):c.6441C>G (p.Leu2147=)
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr) rs730881382
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.4(ATM):c.6444A>G (p.Lys2148=) rs2136222477
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs) rs1555116533
NM_000051.4(ATM):c.6446A>G (p.Tyr2149Cys)
NM_000051.4(ATM):c.6448G>A (p.Ala2150Thr) rs1591100678
NM_000051.4(ATM):c.6449C>T (p.Ala2150Val) rs2136222623
NM_000051.4(ATM):c.6450C>G (p.Ala2150=)
NM_000051.4(ATM):c.6450C>T (p.Ala2150=) rs2136222693
NM_000051.4(ATM):c.6450dup (p.Arg2151fs) rs2136222670
NM_000051.4(ATM):c.6452+11A>C
NM_000051.4(ATM):c.6452+11_6452+12del rs1187485566
NM_000051.4(ATM):c.6452+16A>T
NM_000051.4(ATM):c.6452+17A>C rs371044809
NM_000051.4(ATM):c.6452+17A>T rs371044809
NM_000051.4(ATM):c.6452+17_6452+18del
NM_000051.4(ATM):c.6452+19dup
NM_000051.4(ATM):c.6452+1G>T rs1565509194
NM_000051.4(ATM):c.6452+20T>G
NM_000051.4(ATM):c.6452+21del rs2136223606
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6452+6A>G rs878853531
NM_000051.4(ATM):c.6452+6A>T rs878853531
NM_000051.4(ATM):c.6452+7T>C rs1555116551
NM_000051.4(ATM):c.6452+8G>A rs2136223026
NM_000051.4(ATM):c.6452+9A>G rs771531015
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr) rs2136222746
NM_000051.4(ATM):c.6453-13T>C rs1555117056
NM_000051.4(ATM):c.6453-13T>G
NM_000051.4(ATM):c.6453-14T>A rs1380071831
NM_000051.4(ATM):c.6453-14T>C
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6453-17_6453-16del
NM_000051.4(ATM):c.6453-1G>A rs1555117071
NM_000051.4(ATM):c.6453-1G>C rs1555117071
NM_000051.4(ATM):c.6453-1_6457del rs2136238332
NM_000051.4(ATM):c.6453-2A>G rs539978799
NM_000051.4(ATM):c.6453-3T>C rs768073845
NM_000051.4(ATM):c.6453-4C>G rs2085189849
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.6453-9del
NM_000051.4(ATM):c.6453-9dup
NM_000051.4(ATM):c.6454G>A (p.Val2152Ile) rs753158040
NM_000051.4(ATM):c.6459A>G (p.Lys2153=)
NM_000051.4(ATM):c.6461A>T (p.Glu2154Val) rs2136238562
NM_000051.4(ATM):c.6462A>G (p.Glu2154=) rs756453090
NM_000051.4(ATM):c.6463G>A (p.Val2155Met) rs2136238666
NM_000051.4(ATM):c.6463_6478dup (p.Lys2160delinsSerGlyArgAspValTer) rs1555117084
NM_000051.4(ATM):c.6464T>C (p.Val2155Ala) rs1060501532
NM_000051.4(ATM):c.6468_6472dup (p.Met2158fs) rs2136238826
NM_000051.4(ATM):c.6468del (p.Glu2157fs)
NM_000051.4(ATM):c.6470A>G (p.Glu2157Gly) rs1591106982
NM_000051.4(ATM):c.6471G>C (p.Glu2157Asp) rs1555117097
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile) rs1565511084
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg) rs150408832
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.6481C>G (p.Arg2161Gly) rs1064793958
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys) rs1064793958
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs) rs1057516905
NM_000051.4(ATM):c.6484A>G (p.Ser2162Gly) rs2085194212
NM_000051.4(ATM):c.6485G>A (p.Ser2162Asn)
NM_000051.4(ATM):c.6486C>A (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6487C>G (p.Leu2163Val) rs1591107130
NM_000051.4(ATM):c.6488T>A (p.Leu2163His)
NM_000051.4(ATM):c.6488T>G (p.Leu2163Arg) rs779742477
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.4(ATM):c.6490G>C (p.Glu2164Gln) rs1317619286
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.4(ATM):c.6491A>C (p.Glu2164Ala) rs1591107186
NM_000051.4(ATM):c.6491A>G (p.Glu2164Gly) rs1591107186
NM_000051.4(ATM):c.6491A>T (p.Glu2164Val) rs1591107186
NM_000051.4(ATM):c.6492G>C (p.Glu2164Asp)
NM_000051.4(ATM):c.6492G>T (p.Glu2164Asp) rs2136239707
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6493T>C (p.Ser2165Pro)
NM_000051.4(ATM):c.6494C>T (p.Ser2165Phe) rs2085195776
NM_000051.4(ATM):c.6498G>A (p.Val2166=) rs746514937
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs) rs1060501707
NM_000051.4(ATM):c.6500A>T (p.Tyr2167Phe) rs768155385
NM_000051.4(ATM):c.6501T>C (p.Tyr2167=) rs1204851027
NM_000051.4(ATM):c.6502_6508del (p.Ser2168fs)
NM_000051.4(ATM):c.6503C>G (p.Ser2168Trp) rs200431631
NM_000051.4(ATM):c.6505_6519del (p.Leu2169_Leu2173del) rs1555117162
NM_000051.4(ATM):c.6506T>A (p.Leu2169His)
NM_000051.4(ATM):c.6506T>C (p.Leu2169Pro) rs748054311
NM_000051.4(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
NM_000051.4(ATM):c.6509A>C (p.Tyr2170Ser)
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys) rs1555117171
NM_000051.4(ATM):c.6510T>C (p.Tyr2170=)
NM_000051.4(ATM):c.6514del (p.Thr2172fs)
NM_000051.4(ATM):c.6515C>A (p.Thr2172Lys)
NM_000051.4(ATM):c.6516A>C (p.Thr2172=) rs576254168
NM_000051.4(ATM):c.6517C>G (p.Leu2173Val) rs1565511354
NM_000051.4(ATM):c.6518T>A (p.Leu2173His) rs1173542225
NM_000051.4(ATM):c.6518T>G (p.Leu2173Arg)
NM_000051.4(ATM):c.6519T>G (p.Leu2173=) rs2136240892
NM_000051.4(ATM):c.6521G>A (p.Ser2174Asn) rs1470293148
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.4(ATM):c.6523A>C (p.Arg2175=) rs2085199556
NM_000051.4(ATM):c.6523del (p.Arg2175fs)
NM_000051.4(ATM):c.6523dup (p.Arg2175fs) rs1591107480
NM_000051.4(ATM):c.6524G>A (p.Arg2175Lys) rs1555117188
NM_000051.4(ATM):c.6524G>C (p.Arg2175Thr) rs1555117188
NM_000051.4(ATM):c.6524G>T (p.Arg2175Met) rs1555117188
NM_000051.4(ATM):c.6525G>A (p.Arg2175=) rs1555117190
NM_000051.4(ATM):c.6525G>T (p.Arg2175Ser)
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs) rs2085199149
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.4(ATM):c.6528G>A (p.Leu2176=) rs2136241451
NM_000051.4(ATM):c.6529C>G (p.Gln2177Glu)
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.6530A>G (p.Gln2177Arg) rs1060501573
NM_000051.4(ATM):c.6531G>A (p.Gln2177=) rs2136241619
NM_000051.4(ATM):c.6534C>T (p.Ala2178=) rs1555117210
NM_000051.4(ATM):c.6535A>G (p.Ile2179Val) rs2136241829
NM_000051.4(ATM):c.6537dup (p.Gly2180fs)
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys) rs2136242185
NM_000051.4(ATM):c.6542A>G (p.Glu2181Gly) rs2085203449
NM_000051.4(ATM):c.6544C>T (p.Leu2182=)
NM_000051.4(ATM):c.6546G>A (p.Leu2182=) rs756551824
NM_000051.4(ATM):c.6547G>A (p.Glu2183Lys) rs2085204408
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter) rs2085204408
NM_000051.4(ATM):c.6547_6548del (p.Glu2183fs)
NM_000051.4(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.4(ATM):c.6553A>T (p.Ile2185Phe) rs2085205198
NM_000051.4(ATM):c.6554T>G (p.Ile2185Ser) rs779611511
NM_000051.4(ATM):c.6555T>C (p.Ile2185=) rs1591107794
NM_000051.4(ATM):c.6555dup (p.Gly2186fs) rs1565511585
NM_000051.4(ATM):c.6558G>T (p.Gly2186=) rs1555117263
NM_000051.4(ATM):c.6560delinsGG (p.Glu2187fs)
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.6562C>T (p.Leu2188Phe) rs1060501682
NM_000051.4(ATM):c.6562del (p.Leu2188fs)
NM_000051.4(ATM):c.6565_6566del (p.Phe2189fs) rs2136243287
NM_000051.4(ATM):c.6566del (p.Phe2189fs) rs2136243287
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.4(ATM):c.6572+10T>G rs2136243985
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000051.4(ATM):c.6572+12G>C
NM_000051.4(ATM):c.6572+12del rs1555117290
NM_000051.4(ATM):c.6572+15T>C
NM_000051.4(ATM):c.6572+17A>C rs1555117296
NM_000051.4(ATM):c.6572+17A>G
NM_000051.4(ATM):c.6572+18C>G
NM_000051.4(ATM):c.6572+18C>T rs2085210231
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6572+20_6572+21del rs1064793041
NM_000051.4(ATM):c.6572+2T>A
NM_000051.4(ATM):c.6572+2dup
NM_000051.4(ATM):c.6572+3A>G rs778574672
NM_000051.4(ATM):c.6572+7A>C rs2136243916
NM_000051.4(ATM):c.6572+7A>G
NM_000051.4(ATM):c.6572+9T>A rs2136243962
NM_000051.4(ATM):c.6572G>A (p.Arg2191Lys) rs1196814221
NM_000051.4(ATM):c.6572G>C (p.Arg2191Thr) rs1196814221
NM_000051.4(ATM):c.6573-11G>A rs375599653
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-12C>G rs1057521666
NM_000051.4(ATM):c.6573-12C>T rs1057521666
NM_000051.4(ATM):c.6573-13T>A
NM_000051.4(ATM):c.6573-16_6573-15del rs1064794351
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6573-23G>T rs1591127987
NM_000051.4(ATM):c.6573-26C>A rs1591127920
NM_000051.4(ATM):c.6573-31G>T rs1274213878
NM_000051.4(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.4(ATM):c.6573-34C>T rs767824695
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.4(ATM):c.6573-41_6573-40del rs758339884
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.4(ATM):c.6573-5T>C
NM_000051.4(ATM):c.6573-8G>A rs1555118989
NM_000051.4(ATM):c.6573-8G>T rs1555118989
NM_000051.4(ATM):c.6573-9G>A rs1591128179
NM_000051.4(ATM):c.6573A>G (p.Arg2191=) rs1565518004
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.6576A>G (p.Ser2192=) rs2136306809
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.6582A>G (p.Thr2194=)
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6584A>C (p.His2195Pro) rs1565518051
NM_000051.4(ATM):c.6584A>G (p.His2195Arg) rs1565518051
NM_000051.4(ATM):c.6585T>C (p.His2195=) rs786203401
NM_000051.4(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.4(ATM):c.6586A>C (p.Arg2196=) rs1555119011
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6588A>G (p.Arg2196=) rs2136307484
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.6596C>A (p.Ser2199Tyr) rs1591128462
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6598G>A (p.Glu2200Lys) rs2085552425
NM_000051.4(ATM):c.6598G>T (p.Glu2200Ter) rs2085552425
NM_000051.4(ATM):c.6600A>G (p.Glu2200=) rs2136308135
NM_000051.4(ATM):c.6601G>C (p.Val2201Leu)
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala) rs876658435
NM_000051.4(ATM):c.6602_6610del (p.Val2201_Lys2204delinsGlu)
NM_000051.4(ATM):c.6603A>G (p.Val2201=) rs863224297
NM_000051.4(ATM):c.6604T>C (p.Tyr2202His) rs730881311
NM_000051.4(ATM):c.6606T>C (p.Tyr2202=) rs1367617850
NM_000051.4(ATM):c.6606_6609del (p.Val2201_Tyr2202insTer) rs2136308396
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr) rs2085553784
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.6612_6613insC (p.Trp2205fs)
NM_000051.4(ATM):c.6613T>C (p.Trp2205Arg) rs755656958
NM_000051.4(ATM):c.6614G>C (p.Trp2205Ser)
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.6615G>C (p.Trp2205Cys) rs1555119041
NM_000051.4(ATM):c.6615G>T (p.Trp2205Cys) rs1555119041
NM_000051.4(ATM):c.6616C>G (p.Gln2206Glu) rs2085554912
NM_000051.4(ATM):c.6616C>T (p.Gln2206Ter) rs2085554912
NM_000051.4(ATM):c.6618G>C (p.Gln2206His) rs2085555121
NM_000051.4(ATM):c.6620A>G (p.Lys2207Arg) rs1565518213
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.4(ATM):c.6624C>A (p.His2208Gln) rs2136309199
NM_000051.4(ATM):c.6627C>G (p.Ser2209=) rs2085556098
NM_000051.4(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.4(ATM):c.6630G>C (p.Gln2210His)
NM_000051.4(ATM):c.6631C>T (p.Leu2211Phe) rs1555119051
NM_000051.4(ATM):c.6632T>C (p.Leu2211Pro)
NM_000051.4(ATM):c.6632T>G (p.Leu2211Arg) rs2136309652
NM_000051.4(ATM):c.6635T>C (p.Leu2212Pro)
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs) rs768909644
NM_000051.4(ATM):c.6636C>A (p.Leu2212=) rs876659563
NM_000051.4(ATM):c.6636C>G (p.Leu2212=)
NM_000051.4(ATM):c.6640G>T (p.Asp2214Tyr) rs1433554922
NM_000051.4(ATM):c.6642delinsGA (p.Asp2214fs) rs2085558165
NM_000051.4(ATM):c.6643A>C (p.Ser2215Arg) rs730881312
NM_000051.4(ATM):c.6643A>G (p.Ser2215Gly) rs730881312
NM_000051.4(ATM):c.6643_6644del (p.Asp2214_Ser2215insTer)
NM_000051.4(ATM):c.6644G>C (p.Ser2215Thr) rs1591128755
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg) rs1064794485
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn) rs1482691031
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs) rs864622326
NM_000051.4(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer) rs1555119092
NM_000051.4(ATM):c.6652A>G (p.Ser2218Gly) rs749261367
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)
NM_000051.4(ATM):c.6655T>G (p.Phe2219Val) rs2136310909
NM_000051.4(ATM):c.6657T>G (p.Phe2219Leu) rs2085560685
NM_000051.4(ATM):c.6657del (p.Gln2220fs) rs876658603
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys) rs1591128898
NM_000051.4(ATM):c.6661G>C (p.Glu2221Gln) rs1591128898
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
NM_000051.4(ATM):c.6661del (p.Glu2221fs)
NM_000051.4(ATM):c.6663G>A (p.Glu2221=)
NM_000051.4(ATM):c.6665C>A (p.Pro2222His) rs997021874
NM_000051.4(ATM):c.6665C>G (p.Pro2222Arg) rs997021874
NM_000051.4(ATM):c.6665C>T (p.Pro2222Leu)
NM_000051.4(ATM):c.6665_6679delinsG (p.Pro2222fs) rs2085562005
NM_000051.4(ATM):c.6666T>C (p.Pro2222=) rs1591128954
NM_000051.4(ATM):c.6666_6669dup (p.Met2224fs)
NM_000051.4(ATM):c.6667A>C (p.Ile2223Leu) rs1028293945
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6667del (p.Ile2223fs) rs878853533
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
NM_000051.4(ATM):c.6670A>C (p.Met2224Leu) rs545873723
NM_000051.4(ATM):c.6672G>A (p.Met2224Ile) rs2136311974
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.6673G>A (p.Ala2225Thr) rs1555119121
NM_000051.4(ATM):c.6673G>T (p.Ala2225Ser)
NM_000051.4(ATM):c.6676C>T (p.Leu2226=) rs745709682
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.4(ATM):c.6682del (p.Thr2228fs)
NM_000051.4(ATM):c.6683C>A (p.Thr2228Lys) rs2085565666
NM_000051.4(ATM):c.6683C>T (p.Thr2228Ile)
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs) rs1565518539
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly) rs1555119144
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6693G>A (p.Leu2231=) rs2136313009
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu) rs1385625521
NM_000051.4(ATM):c.6698T>C (p.Ile2233Thr) rs2136313236
NM_000051.4(ATM):c.6698del (p.Ile2233fs)
NM_000051.4(ATM):c.6699C>G (p.Ile2233Met) rs1555119149
NM_000051.4(ATM):c.6699C>T (p.Ile2233=) rs1555119149
NM_000051.4(ATM):c.6700del (p.Ile2233_Leu2234insTer) rs2085567158
NM_000051.4(ATM):c.6701T>C (p.Leu2234Pro) rs1158183992
NM_000051.4(ATM):c.6702G>A (p.Leu2234=)
NM_000051.4(ATM):c.6704T>C (p.Met2235Thr)
NM_000051.4(ATM):c.6705G>T (p.Met2235Ile)
NM_000051.4(ATM):c.6706del (p.Glu2236fs) rs2136313589
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg) rs35118109
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6710_6719del (p.Lys2237fs)
NM_000051.4(ATM):c.6712G>A (p.Glu2238Lys) rs2136313885
NM_000051.4(ATM):c.6713A>C (p.Glu2238Ala) rs1591129372
NM_000051.4(ATM):c.6713A>T (p.Glu2238Val) rs1591129372
NM_000051.4(ATM):c.6715A>C (p.Met2239Leu) rs2085569409
NM_000051.4(ATM):c.6716T>C (p.Met2239Thr)
NM_000051.4(ATM):c.6717G>A (p.Met2239Ile) rs1555119181
NM_000051.4(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.4(ATM):c.6719A>G (p.Asp2240Gly)
NM_000051.4(ATM):c.6720C>T (p.Asp2240=)
NM_000051.4(ATM):c.6722A>C (p.Asn2241Thr) rs786202583
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.4(ATM):c.6723C>T (p.Asn2241=) rs750763671
NM_000051.4(ATM):c.6724T>A (p.Ser2242Thr) rs1309164461
NM_000051.4(ATM):c.6725C>A (p.Ser2242Ter)
NM_000051.4(ATM):c.6726A>G (p.Ser2242=) rs878853534
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter) rs1565518711
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro) rs1565518723
NM_000051.4(ATM):c.6728A>G (p.Gln2243Arg)
NM_000051.4(ATM):c.6728_6755del (p.Gln2243fs) rs2136314501
NM_000051.4(ATM):c.6729A>G (p.Gln2243=) rs763431129
NM_000051.4(ATM):c.6729_6730del (p.Glu2245fs) rs1060501543
NM_000051.4(ATM):c.6731G>A (p.Arg2244Lys) rs2136315016
NM_000051.4(ATM):c.6731G>C (p.Arg2244Thr)
NM_000051.4(ATM):c.6733G>A (p.Glu2245Lys) rs2085572299
NM_000051.4(ATM):c.6733G>C (p.Glu2245Gln) rs2085572299
NM_000051.4(ATM):c.6735A>G (p.Glu2245=) rs2136315259
NM_000051.4(ATM):c.6735dup (p.Cys2246fs) rs2136315218
NM_000051.4(ATM):c.6737G>A (p.Cys2246Tyr) rs2085573174
NM_000051.4(ATM):c.6738T>C (p.Cys2246=) rs2136315409
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.6742A>T (p.Lys2248Ter)
NM_000051.4(ATM):c.6743A>C (p.Lys2248Thr) rs1591129646
NM_000051.4(ATM):c.6745G>A (p.Asp2249Asn) rs1555119235
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr) rs1555119235
NM_000051.4(ATM):c.6746A>G (p.Asp2249Gly) rs1277367898
NM_000051.4(ATM):c.6746A>T (p.Asp2249Val) rs1277367898
NM_000051.4(ATM):c.6751C>G (p.Leu2251Val) rs2085575228
NM_000051.4(ATM):c.6751del (p.Leu2251fs)
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs) rs863224461
NM_000051.4(ATM):c.6753C>T (p.Leu2251=) rs1057521515
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro) rs1262434611
NM_000051.4(ATM):c.6754del (p.Thr2252fs) rs1064793042
NM_000051.4(ATM):c.6755C>A (p.Thr2252Asn) rs755531586
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.4(ATM):c.6756C>G (p.Thr2252=)
NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln) rs863224578
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu) rs863224578
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter) rs863224578
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.6760C>T (p.His2254Tyr) rs2136316772
NM_000051.4(ATM):c.6761A>C (p.His2254Pro) rs1565518950
NM_000051.4(ATM):c.6762C>T (p.His2254=) rs563933875
NM_000051.4(ATM):c.6763C>T (p.Leu2255Phe) rs2085578159
NM_000051.4(ATM):c.6764T>C (p.Leu2255Pro)
NM_000051.4(ATM):c.6765T>C (p.Leu2255=) rs587780637
NM_000051.4(ATM):c.6765del (p.Leu2255_Val2256insTer) rs949695076
NM_000051.4(ATM):c.6766G>A (p.Val2256Ile) rs1565519006
NM_000051.4(ATM):c.6767T>C (p.Val2256Ala) rs2136317245
NM_000051.4(ATM):c.6769G>T (p.Glu2257Ter) rs2136317336
NM_000051.4(ATM):c.6771A>T (p.Glu2257Asp) rs2085579349
NM_000051.4(ATM):c.6773T>A (p.Leu2258His) rs2136317561
NM_000051.4(ATM):c.6774C>G (p.Leu2258=)
NM_000051.4(ATM):c.6776C>A (p.Ser2259Tyr)
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs) rs1131691156
NM_000051.4(ATM):c.6777T>C (p.Ser2259=) rs1057522874
NM_000051.4(ATM):c.6778A>T (p.Ile2260Leu)
NM_000051.4(ATM):c.6779T>C (p.Ile2260Thr)
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met) rs1555119325
NM_000051.4(ATM):c.6781C>G (p.Leu2261Val) rs757243222
NM_000051.4(ATM):c.6785C>A (p.Ala2262Asp) rs876660017
NM_000051.4(ATM):c.6786_6791del (p.Arg2263_Thr2264del) rs1565519112
NM_000051.4(ATM):c.6788G>A (p.Arg2263Lys)
NM_000051.4(ATM):c.6791C>G (p.Thr2264Ser)
NM_000051.4(ATM):c.6791C>T (p.Thr2264Ile) rs1468747245
NM_000051.4(ATM):c.6792T>A (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.6792T>C (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.4(ATM):c.6794_6795del (p.Thr2264_Phe2265insTer)
NM_000051.4(ATM):c.6795C>A (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg) rs1591130168
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs) rs1555119364
NM_000051.4(ATM):c.6800A>G (p.Asn2267Ser) rs972348231
NM_000051.4(ATM):c.6800A>T (p.Asn2267Ile)
NM_000051.4(ATM):c.6801C>T (p.Asn2267=) rs1591130210
NM_000051.4(ATM):c.6802A>G (p.Thr2268Ala) rs1391132040
NM_000051.4(ATM):c.6802A>T (p.Thr2268Ser) rs1391132040
NM_000051.4(ATM):c.6805C>A (p.Gln2269Lys) rs2085584895
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu) rs2085584895
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter) rs2085584895
NM_000051.4(ATM):c.6807+11T>C
NM_000051.4(ATM):c.6807+15A>G
NM_000051.4(ATM):c.6807+1_6807+7del
NM_000051.4(ATM):c.6807+20_6807+21del rs1555119392
NM_000051.4(ATM):c.6807+2T>C rs2136319469
NM_000051.4(ATM):c.6807+2_6807+3insTCTTG
NM_000051.4(ATM):c.6807+4A>G rs1555119382
NM_000051.4(ATM):c.6807+8C>A rs1565519254
NM_000051.4(ATM):c.6807+8C>T rs1565519254
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6808-10T>C rs2136330431
NM_000051.4(ATM):c.6808-14C>G
NM_000051.4(ATM):c.6808-14C>T rs932081789
NM_000051.4(ATM):c.6808-17T>A
NM_000051.4(ATM):c.6808-18A>G
NM_000051.4(ATM):c.6808-18A>T rs1166582977
NM_000051.4(ATM):c.6808-18_6808-10del
NM_000051.4(ATM):c.6808-18_6808-17del rs2136330085
NM_000051.4(ATM):c.6808-1G>A
NM_000051.4(ATM):c.6808-242_7516-275del
NM_000051.4(ATM):c.6808-2A>G
NM_000051.4(ATM):c.6808-3C>G rs2085644636
NM_000051.4(ATM):c.6808-6_6808-2del rs2085643760
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.6808-7A>G rs2085644108
NM_000051.4(ATM):c.6808-8C>G
NM_000051.4(ATM):c.6808-9T>C
NM_000051.4(ATM):c.6808C>T (p.Leu2270Phe) rs2085645038
NM_000051.4(ATM):c.6810C>T (p.Leu2270=) rs1060504305
NM_000051.4(ATM):c.6811C>T (p.Pro2271Ser) rs1591133084
NM_000051.4(ATM):c.6812C>T (p.Pro2271Leu)
NM_000051.4(ATM):c.6813T>C (p.Pro2271=) rs1555119714
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs) rs1565520117
NM_000051.4(ATM):c.6815A>C (p.Glu2272Ala) rs1565520129
NM_000051.4(ATM):c.6816A>G (p.Glu2272=) rs1555119726
NM_000051.4(ATM):c.6817A>G (p.Arg2273Gly)
NM_000051.4(ATM):c.6820G>T (p.Ala2274Ser) rs567060474
NM_000051.4(ATM):c.6820_6821delinsAT (p.Ala2274Ile)
NM_000051.4(ATM):c.6821C>G (p.Ala2274Gly)
NM_000051.4(ATM):c.6821C>T (p.Ala2274Val) rs2085647482
NM_000051.4(ATM):c.6822A>G (p.Ala2274=)
NM_000051.4(ATM):c.6823A>C (p.Ile2275Leu) rs587779857
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr) rs1283858462
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met) rs1591133274
NM_000051.4(ATM):c.6827T>G (p.Phe2276Cys) rs753389616
NM_000051.4(ATM):c.6828T>A (p.Phe2276Leu) rs1225138469
NM_000051.4(ATM):c.6828_6829insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGTGGAATTTGTGCAGGTTAGTTAAATATGTATACATGTGCCATGATGGTCCGCTGCACACACTAATGTTTCATCTAGACATAGGTATATCTCGAAAGGGCAATATTT (p.Gln2277delinsPhePhePhePhePhePheXaaXaaXaaXaaCysGlyIleCysAlaGlyTer)
NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)
NM_000051.4(ATM):c.6829del (p.Gln2277fs) rs2136332132
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.6832A>C (p.Ile2278Leu) rs2085649125
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter) rs1565520246
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.6839A>G (p.Gln2280Arg) rs1555119779
NM_000051.4(ATM):c.6840G>A (p.Gln2280=) rs2136332740
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His) rs1291249685
NM_000051.4(ATM):c.6842A>G (p.Tyr2281Cys) rs2136332870
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
NM_000051.4(ATM):c.6843del (p.Gln2280_Tyr2281insTer) rs1565520291
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.6847T>G (p.Ser2283Ala)
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
NM_000051.4(ATM):c.6850G>T (p.Val2284Phe) rs2085651553
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6851T>C (p.Val2284Ala) rs2136333421
NM_000051.4(ATM):c.6852T>C (p.Val2284=)
NM_000051.4(ATM):c.6857G>A (p.Cys2286Tyr) rs786203052
NM_000051.4(ATM):c.6857G>T (p.Cys2286Phe) rs786203052
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg) rs1181779478
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6861A>C (p.Gly2287=) rs2136333918
NM_000051.4(ATM):c.6863T>A (p.Val2288Asp) rs1591133559
NM_000051.4(ATM):c.6863del (p.Val2288fs) rs2085652979
NM_000051.4(ATM):c.6864C>G (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6864C>T (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6865T>C (p.Ser2289Pro) rs2085653356
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer) rs886039701
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln) rs1479339581
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala) rs1555119842
NM_000051.4(ATM):c.6870G>A (p.Glu2290=) rs1555119845
NM_000051.4(ATM):c.6871T>C (p.Trp2291Arg) rs746815819
NM_000051.4(ATM):c.6871T>G (p.Trp2291Gly)
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6873G>C (p.Trp2291Cys) rs2136334606
NM_000051.4(ATM):c.6874C>G (p.Gln2292Glu)
NM_000051.4(ATM):c.6875A>T (p.Gln2292Leu)
NM_000051.4(ATM):c.6876G>A (p.Gln2292=)
NM_000051.4(ATM):c.6877C>A (p.Leu2293Met)
NM_000051.4(ATM):c.6878T>A (p.Leu2293Gln)
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro) rs1450429233
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
NM_000051.4(ATM):c.6882A>G (p.Glu2294=) rs1555119866
NM_000051.4(ATM):c.6883G>A (p.Glu2295Lys)
NM_000051.4(ATM):c.6885A>C (p.Glu2295Asp)
NM_000051.4(ATM):c.6885A>G (p.Glu2295=) rs748221367
NM_000051.4(ATM):c.6886G>A (p.Ala2296Thr) rs2085656079
NM_000051.4(ATM):c.6888A>C (p.Ala2296=)
NM_000051.4(ATM):c.6888A>G (p.Ala2296=)
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.4(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.4(ATM):c.6893T>C (p.Val2298Ala) rs1565520607
NM_000051.4(ATM):c.6894A>G (p.Val2298=) rs2136335688
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys) rs1591133875
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr) rs1060501668
NM_000051.4(ATM):c.6901G>C (p.Ala2301Pro) rs1060501668
NM_000051.4(ATM):c.6901del (p.Ala2301fs)
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
NM_000051.4(ATM):c.6903A>G (p.Ala2301=)
NM_000051.4(ATM):c.6904A>G (p.Lys2302Glu) rs2085658893
NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter) rs2085658893
NM_000051.4(ATM):c.6907A>T (p.Lys2303Ter)
NM_000051.4(ATM):c.6908A>T (p.Lys2303Met) rs1064795166
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6909G>A (p.Lys2303=)
NM_000051.4(ATM):c.6910del (p.Glu2304fs) rs1555119940
NM_000051.4(ATM):c.6911A>G (p.Glu2304Gly)
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
NM_000051.4(ATM):c.6912G>C (p.Glu2304Asp) rs771382172
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.6918T>C (p.Ser2306=) rs1555119959
NM_000051.4(ATM):c.6919C>G (p.Leu2307Val) rs56009889
NM_000051.4(ATM):c.6920T>A (p.Leu2307His) rs2085661534
NM_000051.4(ATM):c.6921T>C (p.Leu2307=)
NM_000051.4(ATM):c.6921T>G (p.Leu2307=) rs1555119966
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr) rs1591134072
NM_000051.4(ATM):c.6922G>T (p.Ala2308Ser) rs1591134072
NM_000051.4(ATM):c.6922del (p.Ala2308fs) rs2136337304
NM_000051.4(ATM):c.6923C>T (p.Ala2308Val) rs876658454
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.6927G>C (p.Leu2309=)
NM_000051.4(ATM):c.6928A>G (p.Ser2310Gly) rs572301723
NM_000051.4(ATM):c.6928A>T (p.Ser2310Cys)
NM_000051.4(ATM):c.6928_6929del (p.Ser2310fs) rs2085663022
NM_000051.4(ATM):c.6930T>C (p.Ser2310=) rs876660710
NM_000051.4(ATM):c.6931A>T (p.Ile2311Phe)
NM_000051.4(ATM):c.6933dup (p.Leu2312fs)
NM_000051.4(ATM):c.6935T>A (p.Leu2312His)
NM_000051.4(ATM):c.6935T>C (p.Leu2312Pro) rs761352263
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter) rs2136338211
NM_000051.4(ATM):c.6941A>G (p.Gln2314Arg)
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.4(ATM):c.6946A>T (p.Ile2316Phe) rs2136338816
NM_000051.4(ATM):c.6947T>A (p.Ile2316Asn) rs1591134289
NM_000051.4(ATM):c.6947T>C (p.Ile2316Thr) rs1591134289
NM_000051.4(ATM):c.6951G>A (p.Lys2317=) rs1591134349
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6954G>A (p.Lys2318=) rs1555120044
NM_000051.4(ATM):c.6955T>A (p.Leu2319Met) rs1555120047
NM_000051.4(ATM):c.6955T>C (p.Leu2319=)
NM_000051.4(ATM):c.6956T>C (p.Leu2319Ser) rs1555120049
NM_000051.4(ATM):c.6956T>G (p.Leu2319Trp) rs1555120049
NM_000051.4(ATM):c.6958G>T (p.Asp2320Tyr) rs1565521026
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.4(ATM):c.6961G>C (p.Ala2321Pro) rs1060501538
NM_000051.4(ATM):c.6962C>A (p.Ala2321Asp) rs1383763069
NM_000051.4(ATM):c.6963C>T (p.Ala2321=) rs1555120057
NM_000051.4(ATM):c.6965G>A (p.Ser2322Asn) rs876659183
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe) rs876660924
NM_000051.4(ATM):c.6970G>T (p.Ala2324Ser)
NM_000051.4(ATM):c.6971C>T (p.Ala2324Val) rs2136340286
NM_000051.4(ATM):c.6975+13del rs763287238
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6975+14del rs2136341824
NM_000051.4(ATM):c.6975+14dup rs1555120120
NM_000051.4(ATM):c.6975+18G>C rs2136342020
NM_000051.4(ATM):c.6975+18G>T
NM_000051.4(ATM):c.6975+1G>A rs1565521129
NM_000051.4(ATM):c.6975+1G>T rs1565521129
NM_000051.4(ATM):c.6975+20T>A
NM_000051.4(ATM):c.6975+20T>C rs781322757
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6975+4T>A rs876660240
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+4del
NM_000051.4(ATM):c.6975+5G>C rs575354684
NM_000051.4(ATM):c.6975+5_6975+6del rs1064794094
NM_000051.4(ATM):c.6975+5_6975+8del rs1565521135
NM_000051.4(ATM):c.6975+5_6975+9del rs1555120086
NM_000051.4(ATM):c.6975+6T>C rs1169579742
NM_000051.4(ATM):c.6975+7T>C
NM_000051.4(ATM):c.6975+7T>G rs754834282
NM_000051.4(ATM):c.6975+8T>C rs2136341429
NM_000051.4(ATM):c.6975+9T>G
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.6976-10T>C
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.6976-11T>A rs1565523441
NM_000051.4(ATM):c.6976-11T>C rs1565523441
NM_000051.4(ATM):c.6976-16T>C
NM_000051.4(ATM):c.6976-16dup
NM_000051.4(ATM):c.6976-19T>C rs1026199027
NM_000051.4(ATM):c.6976-1G>A rs1591141963
NM_000051.4(ATM):c.6976-1G>T rs1591141963
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.6976-2A>T rs587782403
NM_000051.4(ATM):c.6976-3C>G rs898003667
NM_000051.4(ATM):c.6976-3_6976-2insT rs1060501533
NM_000051.4(ATM):c.6976-4A>G rs2136372366
NM_000051.4(ATM):c.6976-4A>T
NM_000051.4(ATM):c.6976-5T>C rs1555120913
NM_000051.4(ATM):c.6976-5T>G
NM_000051.4(ATM):c.6976-6A>G rs2136372183
NM_000051.4(ATM):c.6976-6A>T rs2136372183
NM_000051.4(ATM):c.6976-7T>A rs2085807343
NM_000051.4(ATM):c.6976-8T>A rs2136372089
NM_000051.4(ATM):c.6976-9C>A
NM_000051.4(ATM):c.6976-9del rs2136372040
NM_000051.4(ATM):c.6979A>G (p.Asn2327Asp) rs2085809640
NM_000051.4(ATM):c.6982C>G (p.Pro2328Ala) rs769606850
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6986G>C (p.Ser2329Thr) rs2085810826
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.6994C>G (p.Leu2332Val) rs762427092
NM_000051.4(ATM):c.6994C>T (p.Leu2332Phe) rs762427092
NM_000051.4(ATM):c.6995T>G (p.Leu2332Arg) rs4988111
NM_000051.4(ATM):c.6996T>C (p.Leu2332=)
NM_000051.4(ATM):c.6996T>G (p.Leu2332=) rs2136373865
NM_000051.4(ATM):c.6996dup (p.Thr2333fs) rs2136373820
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>G (p.Thr2333Arg) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.6999A>G (p.Thr2333=) rs759267807
NM_000051.4(ATM):c.7000T>A (p.Tyr2334Asn)
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.7001A>G (p.Tyr2334Cys) rs879254258
NM_000051.4(ATM):c.7002C>G (p.Tyr2334Ter) rs2136374351
NM_000051.4(ATM):c.7003A>C (p.Thr2335Pro) rs1555120970
NM_000051.4(ATM):c.7005A>G (p.Thr2335=) rs1555120978
NM_000051.4(ATM):c.7008A>G (p.Glu2336=) rs2136374637
NM_000051.4(ATM):c.7009T>C (p.Cys2337Arg) rs2136374685
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr) rs876658563
NM_000051.4(ATM):c.7010G>T (p.Cys2337Phe)
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer) rs1555120985
NM_000051.4(ATM):c.7011T>C (p.Cys2337=) rs878853536
NM_000051.4(ATM):c.7011T>G (p.Cys2337Trp) rs878853536
NM_000051.4(ATM):c.7012C>G (p.Leu2338Val) rs1555120990
NM_000051.4(ATM):c.7012C>T (p.Leu2338=) rs1555120990
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7015A>C (p.Arg2339=) rs752531255
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile) rs876659429
NM_000051.4(ATM):c.7021dup (p.Cys2341fs) rs2136375625
NM_000051.4(ATM):c.7023T>C (p.Cys2341=) rs878853537
NM_000051.4(ATM):c.7024G>A (p.Gly2342Ser) rs1555121015
NM_000051.4(ATM):c.7024G>T (p.Gly2342Cys) rs1555121015
NM_000051.4(ATM):c.7025del (p.Gly2342fs) rs2136375832
NM_000051.4(ATM):c.7029C>T (p.Asn2343=) rs1251099495
NM_000051.4(ATM):c.7033T>G (p.Leu2345Val) rs1555121048
NM_000051.4(ATM):c.7034T>C (p.Leu2345Ser) rs2136376523
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.4(ATM):c.7036G>C (p.Ala2346Pro) rs144497088
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val) rs2085819145
NM_000051.4(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.4(ATM):c.7039_7041dup (p.Glu2347_Thr2348insGlu) rs2085819624
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met) rs866740291
NM_000051.4(ATM):c.7044G>T (p.Thr2348=) rs140104789
NM_000051.4(ATM):c.7046G>T (p.Cys2349Phe) rs1223489931
NM_000051.4(ATM):c.7047C>T (p.Cys2349=)
NM_000051.4(ATM):c.7048T>C (p.Leu2350=) rs2136377415
NM_000051.4(ATM):c.7050A>G (p.Leu2350=) rs1555121076
NM_000051.4(ATM):c.7052A>G (p.Glu2351Gly) rs1591142696
NM_000051.4(ATM):c.7057C>A (p.Pro2353Thr) rs1591142717
NM_000051.4(ATM):c.7057C>G (p.Pro2353Ala) rs1591142717
NM_000051.4(ATM):c.7058C>G (p.Pro2353Arg)
NM_000051.4(ATM):c.7058C>T (p.Pro2353Leu) rs2136377844
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr) rs1591142727
NM_000051.4(ATM):c.7061C>A (p.Ala2354Glu) rs1555121079
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7062G>C (p.Ala2354=) rs143489373
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp) rs1197214197
NM_000051.4(ATM):c.7065C>T (p.Val2355=) rs2136378354
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.7067T>C (p.Ile2356Thr)
NM_000051.4(ATM):c.7070T>A (p.Met2357Lys)
NM_000051.4(ATM):c.7070T>C (p.Met2357Thr) rs1591142855
NM_000051.4(ATM):c.7070_7072dup (p.Met2357_Gln2358insLeu) rs1591142874
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)
NM_000051.4(ATM):c.7074G>T (p.Gln2358His) rs1060501593
NM_000051.4(ATM):c.7075A>T (p.Thr2359Ser) rs2136378938
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn) rs730881314
NM_000051.4(ATM):c.7076C>T (p.Thr2359Ile) rs730881314
NM_000051.4(ATM):c.7077C>T (p.Thr2359=) rs1555121132
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs) rs2136379109
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.4(ATM):c.7079A>G (p.Tyr2360Cys) rs1555121141
NM_000051.4(ATM):c.7079A>T (p.Tyr2360Phe)
NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter) rs1555121147
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile) rs1412288141
NM_000051.4(ATM):c.7081C>G (p.Leu2361Val) rs1412288141
NM_000051.4(ATM):c.7081C>T (p.Leu2361=) rs1412288141
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro) rs1169558907
NM_000051.4(ATM):c.7085A>G (p.Glu2362Gly) rs1479883295
NM_000051.4(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000051.4(ATM):c.7089+12G>T
NM_000051.4(ATM):c.7089+15G>A
NM_000051.4(ATM):c.7089+16C>A
NM_000051.4(ATM):c.7089+19C>A
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+1G>C rs777741666
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7089+3A>G rs1565524203
NM_000051.4(ATM):c.7089+4A>C rs2136380076
NM_000051.4(ATM):c.7089+5G>A rs1351209504
NM_000051.4(ATM):c.7089+5G>T
NM_000051.4(ATM):c.7089+7T>G
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
NM_000051.4(ATM):c.7090-12G>A
NM_000051.4(ATM):c.7090-12G>C
NM_000051.4(ATM):c.7090-13T>A
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-14G>T rs1486032156
NM_000051.4(ATM):c.7090-16T>C
NM_000051.4(ATM):c.7090-17G>A
NM_000051.4(ATM):c.7090-17G>C rs1555121895
NM_000051.4(ATM):c.7090-17G>T rs1555121895
NM_000051.4(ATM):c.7090-18G>T
NM_000051.4(ATM):c.7090-19T>G rs2136408437
NM_000051.4(ATM):c.7090-6T>C rs2085972331
NM_000051.4(ATM):c.7090-6_7090-5del rs2136409409
NM_000051.4(ATM):c.7090-8del rs2136409048
NM_000051.4(ATM):c.7090-9T>C rs2136409178
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro) rs759439613
NM_000051.4(ATM):c.7091C>T (p.Ala2364Val) rs1555121919
NM_000051.4(ATM):c.7091del (p.Ala2364fs) rs878853538
NM_000051.4(ATM):c.7092A>G (p.Ala2364=) rs1591150359
NM_000051.4(ATM):c.7093G>A (p.Val2365Ile) rs1591150377
NM_000051.4(ATM):c.7094T>A (p.Val2365Glu) rs2136410055
NM_000051.4(ATM):c.7096G>A (p.Glu2366Lys) rs587781672
NM_000051.4(ATM):c.7096G>C (p.Glu2366Gln)
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu) rs1060501647
NM_000051.4(ATM):c.7100T>C (p.Val2367Ala)
NM_000051.4(ATM):c.7102G>T (p.Ala2368Ser)
NM_000051.4(ATM):c.7103C>G (p.Ala2368Gly) rs1591150471
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu) rs2085974792
NM_000051.4(ATM):c.7107A>G (p.Gly2369=) rs1057523056
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp) rs1555121956
NM_000051.4(ATM):c.7112A>G (p.Tyr2371Cys) rs1565526394
NM_000051.4(ATM):c.7112A>T (p.Tyr2371Phe) rs1565526394
NM_000051.4(ATM):c.7112ATG[1] (p.Asp2372del)
NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=) rs760534895
NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter) rs760534895
NM_000051.4(ATM):c.7115A>G (p.Asp2372Gly) rs2085976203
NM_000051.4(ATM):c.7115A>T (p.Asp2372Val) rs2085976203
NM_000051.4(ATM):c.7119A>G (p.Gly2373=)
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala) rs587782225
NM_000051.4(ATM):c.7122A>T (p.Glu2374Asp) rs376159946
NM_000051.4(ATM):c.7123A>C (p.Ser2375Arg) rs2085977071
NM_000051.4(ATM):c.7123A>G (p.Ser2375Gly) rs2085977071
NM_000051.4(ATM):c.7123AGT[1] (p.Ser2376del) rs1555121978
NM_000051.4(ATM):c.7124G>A (p.Ser2375Asn) rs1297882250
NM_000051.4(ATM):c.7125T>C (p.Ser2375=) rs878853539
NM_000051.4(ATM):c.7125del (p.Ser2375fs) rs2136412237
NM_000051.4(ATM):c.7128T>C (p.Ser2376=) rs2136412428
NM_000051.4(ATM):c.7129G>T (p.Asp2377Tyr) rs1555122008
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)
NM_000051.4(ATM):c.7140A>G (p.Arg2380=) rs750569023
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7142dup (p.Asn2381fs) rs2136413158
NM_000051.4(ATM):c.7145G>A (p.Gly2382Glu)
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala) rs1060501639
NM_000051.4(ATM):c.7150dup (p.Met2384fs)
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr) rs1215010771
NM_000051.4(ATM):c.7155G>A (p.Lys2385=) rs878853540
NM_000051.4(ATM):c.7156G>A (p.Ala2386Thr)
NM_000051.4(ATM):c.7157C>G (p.Ala2386Gly) rs786203697
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.7164C>A (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7164C>T (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)
NM_000051.4(ATM):c.7168_7170del (p.Leu2390del)
NM_000051.4(ATM):c.7169T>C (p.Leu2390Ser)
NM_000051.4(ATM):c.7171G>A (p.Ala2391Thr) rs2136415110
NM_000051.4(ATM):c.7172C>T (p.Ala2391Val) rs2085981550
NM_000051.4(ATM):c.7175G>A (p.Arg2392Gln) rs876659083
NM_000051.4(ATM):c.7175G>C (p.Arg2392Pro) rs876659083
NM_000051.4(ATM):c.7175G>T (p.Arg2392Leu) rs876659083
NM_000051.4(ATM):c.7177T>C (p.Phe2393Leu)
NM_000051.4(ATM):c.7178T>C (p.Phe2393Ser)
NM_000051.4(ATM):c.7178T>G (p.Phe2393Cys) rs1555122073
NM_000051.4(ATM):c.7179T>A (p.Phe2393Leu) rs1057520430
NM_000051.4(ATM):c.7179T>C (p.Phe2393=) rs1057520430
NM_000051.4(ATM):c.7179T>G (p.Phe2393Leu) rs1057520430
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7182A>C (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>G (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>T (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7183G>A (p.Asp2395Asn) rs2085983049
NM_000051.4(ATM):c.7184A>G (p.Asp2395Gly) rs1555122090
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
NM_000051.4(ATM):c.7186del (p.Thr2396fs) rs1555122092
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter) rs747372355
NM_000051.4(ATM):c.7190A>C (p.Gln2397Pro) rs1060501592
NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg) rs1060501592
NM_000051.4(ATM):c.7190A>T (p.Gln2397Leu) rs1060501592
NM_000051.4(ATM):c.7193A>G (p.Tyr2398Cys) rs1591151173
NM_000051.4(ATM):c.7194C>A (p.Tyr2398Ter) rs1591151199
NM_000051.4(ATM):c.7195C>A (p.Gln2399Lys) rs2085985186
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu) rs2085985186
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter) rs2085985186
NM_000051.4(ATM):c.7196A>G (p.Gln2399Arg) rs1565526758
NM_000051.4(ATM):c.7198A>C (p.Arg2400=) rs777423778
NM_000051.4(ATM):c.7200A>G (p.Arg2400=) rs1060501534
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.7203del (p.Ile2401fs) rs2136417490
NM_000051.4(ATM):c.7204G>C (p.Glu2402Gln)
NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter) rs2085987831
NM_000051.4(ATM):c.7210T>C (p.Tyr2404His)
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys) rs1064794093
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=) rs1591151390
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu) rs587781323
NM_000051.4(ATM):c.7213A>T (p.Met2405Leu) rs587781323
NM_000051.4(ATM):c.7215G>A (p.Met2405Ile) rs879254179
NM_000051.4(ATM):c.7217A>G (p.Lys2406Arg)
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>C (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7221A>T (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7222T>A (p.Ser2408Thr)
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp) rs730881315
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.4(ATM):c.7223_7225del (p.Ser2408_Glu2409delinsTer)
NM_000051.4(ATM):c.7228T>G (p.Phe2410Val)
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser) rs758351633
NM_000051.4(ATM):c.7230T>G (p.Phe2410Leu) rs1565527030
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7236C>T (p.Asn2412=)
NM_000051.4(ATM):c.7238A>G (p.Lys2413Arg)
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.7240C>T (p.Gln2414Ter) rs863224462
NM_000051.4(ATM):c.7241A>G (p.Gln2414Arg)
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs) rs1591151678
NM_000051.4(ATM):c.7242A>G (p.Gln2414=) rs761907546
NM_000051.4(ATM):c.7242A>T (p.Gln2414His) rs761907546
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.4(ATM):c.7246C>T (p.Leu2416Phe) rs1060501615
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7249del (p.Leu2416_Leu2417insTer)
NM_000051.4(ATM):c.7250T>C (p.Leu2417Pro) rs1591151788
NM_000051.4(ATM):c.7251G>A (p.Leu2417=) rs2136420487
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr) rs1565527146
NM_000051.4(ATM):c.7257A>G (p.Arg2419=) rs1591151857
NM_000051.4(ATM):c.7261A>G (p.Lys2421Glu) rs1555122220
NM_000051.4(ATM):c.7261_7262insT (p.Lys2421fs) rs1591151905
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.4(ATM):c.7262A>G (p.Lys2421Arg) rs1360453074
NM_000051.4(ATM):c.7263A>G (p.Lys2421=) rs1555122232
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.4(ATM):c.7267G>A (p.Glu2423Lys) rs1555122245
NM_000051.4(ATM):c.7267G>T (p.Glu2423Ter) rs1555122245
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs) rs1591152021
NM_000051.4(ATM):c.7268A>C (p.Glu2423Ala)
NM_000051.4(ATM):c.7268A>G (p.Glu2423Gly) rs121434221
NM_000051.4(ATM):c.7269A>C (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7271T>A (p.Val2424Glu) rs28904921
NM_000051.4(ATM):c.7271T>C (p.Val2424Ala) rs28904921
NM_000051.4(ATM):c.7274G>A (p.Gly2425Asp) rs148949644
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val) rs148949644
NM_000051.4(ATM):c.7274del (p.Gly2425fs) rs1565527283
NM_000051.4(ATM):c.7276C>T (p.Leu2426Phe)
NM_000051.4(ATM):c.7277T>C (p.Leu2426Pro) rs1591152164
NM_000051.4(ATM):c.7278C>T (p.Leu2426=) rs2136422492
NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del) rs796051856
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.7281T>C (p.Leu2427=) rs1239369148
NM_000051.4(ATM):c.7282A>G (p.Arg2428Gly) rs1555122281
NM_000051.4(ATM):c.7283G>A (p.Arg2428Lys) rs2085999795
NM_000051.4(ATM):c.7284G>A (p.Arg2428=) rs1591152279
NM_000051.4(ATM):c.7285del (p.Glu2429fs) rs2136422907
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)
NM_000051.4(ATM):c.7288C>A (p.His2430Asn) rs2086000435
NM_000051.4(ATM):c.7288C>G (p.His2430Asp) rs2086000435
NM_000051.4(ATM):c.7288C>T (p.His2430Tyr) rs2086000435
NM_000051.4(ATM):c.7288del (p.His2430fs) rs2136423257
NM_000051.4(ATM):c.7289A>C (p.His2430Pro)
NM_000051.4(ATM):c.7289A>T (p.His2430Leu)
NM_000051.4(ATM):c.7290T>A (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7290T>C (p.His2430=) rs876658715
NM_000051.4(ATM):c.7290T>G (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7292A>T (p.Lys2431Ile)
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs) rs1060501525
NM_000051.4(ATM):c.7294A>G (p.Ile2432Val) rs587781838
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.4(ATM):c.7295T>A (p.Ile2432Asn) rs2086001580
NM_000051.4(ATM):c.7296del (p.Gln2433fs) rs2136423623
NM_000051.4(ATM):c.7297C>T (p.Gln2433Ter)
NM_000051.4(ATM):c.7297del (p.Gln2433fs) rs2136423753
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu) rs1591152450
NM_000051.4(ATM):c.7299G>A (p.Gln2433=) rs1057520451
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.4(ATM):c.7301C>T (p.Thr2434Ile) rs2136423951
NM_000051.4(ATM):c.7302A>G (p.Thr2434=) rs752125292
NM_000051.4(ATM):c.7303A>G (p.Asn2435Asp) rs1555122326
NM_000051.4(ATM):c.7305C>G (p.Asn2435Lys) rs1160508407
NM_000051.4(ATM):c.7307+13C>G
NM_000051.4(ATM):c.7307+14T>C
NM_000051.4(ATM):c.7307+15A>G
NM_000051.4(ATM):c.7307+17A>T
NM_000051.4(ATM):c.7307+18A>G rs777909508
NM_000051.4(ATM):c.7307+19G>T
NM_000051.4(ATM):c.7307+19del
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7307+1G>T rs2086003529
NM_000051.4(ATM):c.7307+20T>C
NM_000051.4(ATM):c.7307+2dup rs2086004268
NM_000051.4(ATM):c.7307+3A>C rs1565527512
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7307+4A>T rs730881316
NM_000051.4(ATM):c.7307+5C>A
NM_000051.4(ATM):c.7307+5C>T rs2086005523
NM_000051.4(ATM):c.7307+6T>A rs2136424824
NM_000051.4(ATM):c.7307+7A>G
NM_000051.4(ATM):c.7307+8G>A
NM_000051.4(ATM):c.7307+8G>C rs1057523631
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.7308-15A>G
NM_000051.4(ATM):c.7308-15_7308-12dup rs2136450158
NM_000051.4(ATM):c.7308-17T>C
NM_000051.4(ATM):c.7308-17T>G
NM_000051.4(ATM):c.7308-19C>A rs2136449985
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-20_7308-16del rs2136449779
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7308-2_7308-1delinsTT rs2136451316
NM_000051.4(ATM):c.7308-4C>T
NM_000051.4(ATM):c.7308-5G>A rs2086108867
NM_000051.4(ATM):c.7308-6T>C rs574836628
NM_000051.4(ATM):c.7308-8T>C rs1555122924
NM_000051.4(ATM):c.7308-8T>G
NM_000051.4(ATM):c.7308-9C>A rs878853541
NM_000051.4(ATM):c.7308-9C>T rs878853541
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7309T>A (p.Tyr2437Asn) rs1565529213
NM_000051.4(ATM):c.7309T>C (p.Tyr2437His) rs1565529213
NM_000051.4(ATM):c.7310A>G (p.Tyr2437Cys) rs1555122944
NM_000051.4(ATM):c.7310A>T (p.Tyr2437Phe)
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=) rs763470424
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer) rs1591159614
NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro) rs1565529248
NM_000051.4(ATM):c.7312A>G (p.Thr2438Ala)
NM_000051.4(ATM):c.7313C>A (p.Thr2438Lys) rs147604227
NM_000051.4(ATM):c.7313C>G (p.Thr2438Arg) rs147604227
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs) rs1591159614
NM_000051.4(ATM):c.7315G>C (p.Val2439Leu) rs1591159702
NM_000051.4(ATM):c.7316T>G (p.Val2439Gly) rs776266049
NM_000051.4(ATM):c.7316_7317insTAT (p.Val2439_Lys2440insIle) rs2086111568
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
NM_000051.4(ATM):c.7320G>T (p.Lys2440Asn) rs751537332
NM_000051.4(ATM):c.7321G>T (p.Val2441Phe) rs876659556
NM_000051.4(ATM):c.7322T>A (p.Val2441Asp)
NM_000051.4(ATM):c.7322T>G (p.Val2441Gly) rs765548443
NM_000051.4(ATM):c.7323_7334del (p.Gln2442_Leu2445del)
NM_000051.4(ATM):c.7325A>G (p.Gln2442Arg) rs1591159790
NM_000051.4(ATM):c.7325_7326insCAACCAACACA (p.Gln2442fs) rs2136452719
NM_000051.4(ATM):c.7326G>C (p.Gln2442His) rs1555122970
NM_000051.4(ATM):c.7326G>T (p.Gln2442His) rs1555122970
NM_000051.4(ATM):c.7327C>G (p.Arg2443Gly) rs121434220
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.7328G>T (p.Arg2443Leu) rs587782310
NM_000051.4(ATM):c.7328_7331inv (p.Arg2443_Glu2444delinsLeuSer)
NM_000051.4(ATM):c.7330G>A (p.Glu2444Lys) rs2136453151
NM_000051.4(ATM):c.7331A>C (p.Glu2444Ala) rs879254245
NM_000051.4(ATM):c.7331A>G (p.Glu2444Gly) rs879254245
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.4(ATM):c.7333C>T (p.Leu2445=) rs763068664
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln) rs1555122992
NM_000051.4(ATM):c.7334T>C (p.Leu2445Pro) rs1555122992
NM_000051.4(ATM):c.7335G>A (p.Leu2445=) rs2136453475
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
NM_000051.4(ATM):c.7338dup (p.Leu2447fs)
NM_000051.4(ATM):c.7339T>C (p.Leu2447=) rs1591159997
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val) rs1591159997
NM_000051.4(ATM):c.7340T>A (p.Leu2447Ter)
NM_000051.4(ATM):c.7340T>C (p.Leu2447Ser) rs2136453754
NM_000051.4(ATM):c.7340T>G (p.Leu2447Trp)
NM_000051.4(ATM):c.7341G>C (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7341G>T (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn) rs1591160022
NM_000051.4(ATM):c.7342G>C (p.Asp2448His) rs1591160022
NM_000051.4(ATM):c.7343A>G (p.Asp2448Gly) rs1275267580
NM_000051.4(ATM):c.7343A>T (p.Asp2448Val)
NM_000051.4(ATM):c.7345G>C (p.Glu2449Gln)
NM_000051.4(ATM):c.7346A>C (p.Glu2449Ala) rs1555123004
NM_000051.4(ATM):c.7346A>G (p.Glu2449Gly) rs1555123004
NM_000051.4(ATM):c.7347A>C (p.Glu2449Asp)
NM_000051.4(ATM):c.7347A>G (p.Glu2449=) rs2136454257
NM_000051.4(ATM):c.7348T>G (p.Leu2450Val) rs766586514
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
NM_000051.4(ATM):c.7349_7351del (p.Leu2450_Ala2451delinsSer)
NM_000051.4(ATM):c.7350A>G (p.Leu2450=)
NM_000051.4(ATM):c.7351G>A (p.Ala2451Thr) rs587779862
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro) rs587779862
NM_000051.4(ATM):c.7351G>T (p.Ala2451Ser) rs587779862
NM_000051.4(ATM):c.7352C>T (p.Ala2451Val) rs2086116043
NM_000051.4(ATM):c.7353C>T (p.Ala2451=) rs1591160115
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
NM_000051.4(ATM):c.7355T>A (p.Leu2452Gln) rs1555123032
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7355T>G (p.Leu2452Arg) rs1555123032
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)
NM_000051.4(ATM):c.7356dup (p.Arg2453fs) rs2086116982
NM_000051.4(ATM):c.7357_7365del (p.Arg2453_Leu2455del)
NM_000051.4(ATM):c.7358G>C (p.Arg2453Pro) rs587781361
NM_000051.4(ATM):c.7358_7383delinsTAA (p.Arg2453fs) rs2086117562
NM_000051.4(ATM):c.7360G>C (p.Ala2454Pro) rs1565529541
NM_000051.4(ATM):c.7361C>A (p.Ala2454Glu) rs2086118064
NM_000051.4(ATM):c.7362A>C (p.Ala2454=) rs1591160216
NM_000051.4(ATM):c.7364T>A (p.Leu2455Gln) rs1555123056
NM_000051.4(ATM):c.7364T>C (p.Leu2455Pro) rs1555123056
NM_000051.4(ATM):c.7364T>G (p.Leu2455Arg) rs1555123056
NM_000051.4(ATM):c.7365G>A (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7365G>C (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7368A>G (p.Lys2456=) rs2136455679
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs) rs1591160284
NM_000051.4(ATM):c.7370_7371dup (p.Asp2458fs)
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val) rs879254201
NM_000051.4(ATM):c.7374T>A (p.Asp2458Glu)
NM_000051.4(ATM):c.7375C>A (p.Arg2459Ser) rs730881383
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.4(ATM):c.7376G>C (p.Arg2459Pro)
NM_000051.4(ATM):c.7376del (p.Arg2459fs) rs2086120321
NM_000051.4(ATM):c.7380del (p.Lys2460fs) rs2136456432
NM_000051.4(ATM):c.7381C>G (p.Arg2461Gly)
NM_000051.4(ATM):c.7382G>C (p.Arg2461Pro) rs768461085
NM_000051.4(ATM):c.7384T>C (p.Phe2462Leu) rs878853543
NM_000051.4(ATM):c.7384T>G (p.Phe2462Val) rs878853543
NM_000051.4(ATM):c.7386C>G (p.Phe2462Leu) rs2136456889
NM_000051.4(ATM):c.7387_7394del (p.Leu2463fs)
NM_000051.4(ATM):c.7389A>G (p.Leu2463=) rs2136457026
NM_000051.4(ATM):c.7389A>T (p.Leu2463Phe)
NM_000051.4(ATM):c.7390T>G (p.Cys2464Gly) rs55801750
NM_000051.4(ATM):c.7391G>A (p.Cys2464Tyr) rs1555123119
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs) rs1064794690
NM_000051.4(ATM):c.7395A>G (p.Lys2465=) rs2086122414
NM_000051.4(ATM):c.7397C>T (p.Ala2466Val)
NM_000051.4(ATM):c.7398A>G (p.Ala2466=) rs2136457427
NM_000051.4(ATM):c.7400T>C (p.Val2467Ala) rs1591160606
NM_000051.4(ATM):c.7401T>G (p.Val2467=) rs1565529761
NM_000051.4(ATM):c.7402G>C (p.Glu2468Gln)
NM_000051.4(ATM):c.7406dup (p.Asn2469fs) rs2086123262
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7409A>G (p.Tyr2470Cys) rs878853544
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=) rs1555123144
NM_000051.4(ATM):c.7412T>G (p.Ile2471Ser) rs1591160703
NM_000051.4(ATM):c.7414A>T (p.Asn2472Tyr)
NM_000051.4(ATM):c.7415A>G (p.Asn2472Ser) rs1565529851
NM_000051.4(ATM):c.7417del (p.Cys2473fs) rs2086125359
NM_000051.4(ATM):c.7418G>C (p.Cys2473Ser)
NM_000051.4(ATM):c.7420T>C (p.Leu2474=) rs1555123149
NM_000051.4(ATM):c.7421T>C (p.Leu2474Ser) rs2136458920
NM_000051.4(ATM):c.7422A>G (p.Leu2474=) rs1591160792
NM_000051.4(ATM):c.7422A>T (p.Leu2474Phe) rs1591160792
NM_000051.4(ATM):c.7423T>C (p.Leu2475=) rs2136459027
NM_000051.4(ATM):c.7424T>C (p.Leu2475Ser) rs1224883896
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter) rs1224883896
NM_000051.4(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.4(ATM):c.7425_7429del (p.Ser2476fs) rs2136459200
NM_000051.4(ATM):c.7427G>A (p.Ser2476Asn) rs1591160841
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.4(ATM):c.7430G>C (p.Gly2477Ala) rs2136459422
NM_000051.4(ATM):c.7430_7432del (p.Gly2477del)
NM_000051.4(ATM):c.7434A>G (p.Glu2478=) rs1555123171
NM_000051.4(ATM):c.7435G>C (p.Glu2479Gln) rs1060501583
NM_000051.4(ATM):c.7437A>G (p.Glu2479=) rs1591160964
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
NM_000051.4(ATM):c.7438C>T (p.His2480Tyr) rs1029740910
NM_000051.4(ATM):c.7441G>A (p.Asp2481Asn) rs2086127903
NM_000051.4(ATM):c.7442A>G (p.Asp2481Gly) rs2086128087
NM_000051.4(ATM):c.7443T>C (p.Asp2481=) rs1555123181
NM_000051.4(ATM):c.7444A>G (p.Met2482Val) rs951373716
NM_000051.4(ATM):c.7444A>T (p.Met2482Leu) rs951373716
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7446G>A (p.Met2482Ile) rs2136460286
NM_000051.4(ATM):c.7447T>C (p.Trp2483Arg) rs1591161080
NM_000051.4(ATM):c.7448G>A (p.Trp2483Ter) rs2136460393
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile) rs587779864
NM_000051.4(ATM):c.7450G>T (p.Val2484Leu) rs587779864
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
NM_000051.4(ATM):c.7452A>G (p.Val2484=) rs2136460667
NM_000051.4(ATM):c.7453T>G (p.Phe2485Val) rs2136460721
NM_000051.4(ATM):c.7456C>G (p.Arg2486Gly) rs587779865
NM_000051.4(ATM):c.7456del (p.Arg2486fs)
NM_000051.4(ATM):c.7457G>A (p.Arg2486Gln) rs773944604
NM_000051.4(ATM):c.7457G>C (p.Arg2486Pro)
NM_000051.4(ATM):c.7457G>T (p.Arg2486Leu)
NM_000051.4(ATM):c.7461T>G (p.Leu2487=)
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.4(ATM):c.7463G>T (p.Cys2488Phe) rs774281788
NM_000051.4(ATM):c.7464T>C (p.Cys2488=) rs1555123227
NM_000051.4(ATM):c.7464T>G (p.Cys2488Trp) rs1555123227
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr) rs759728261
NM_000051.4(ATM):c.7467C>A (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7467C>T (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7469T>A (p.Leu2490His)
NM_000051.4(ATM):c.7469dup (p.Trp2491fs) rs1591161290
NM_000051.4(ATM):c.7470C>G (p.Leu2490=) rs1057521604
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
NM_000051.4(ATM):c.7473G>T (p.Trp2491Cys) rs1555123257
NM_000051.4(ATM):c.7474C>T (p.Leu2492Phe) rs1555123259
NM_000051.4(ATM):c.7476T>G (p.Leu2492=) rs2136462119
NM_000051.4(ATM):c.7482T>A (p.Asn2494Lys)
NM_000051.4(ATM):c.7485T>G (p.Ser2495=)
NM_000051.4(ATM):c.7486G>A (p.Gly2496Arg) rs1565530187
NM_000051.4(ATM):c.7486G>C (p.Gly2496Arg) rs1565530187
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu) rs764478418
NM_000051.4(ATM):c.7491_7499del (p.Ser2498_Val2500del) rs1064796307
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter) rs2136463344
NM_000051.4(ATM):c.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.4(ATM):c.7499T>G (p.Val2500Gly) rs779810877
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys) rs1591161664
NM_000051.4(ATM):c.7504_7510del (p.Asn2501_Gly2502insTer) rs2086137107
NM_000051.4(ATM):c.7505G>T (p.Gly2502Val) rs754517317
NM_000051.4(ATM):c.7506C>T (p.Gly2502=)
NM_000051.4(ATM):c.7507A>G (p.Met2503Val) rs780931855
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu) rs780931855
NM_000051.4(ATM):c.7507del (p.Gly2502_Met2503insTer)
NM_000051.4(ATM):c.7510dup (p.Met2504fs) rs1591161769
NM_000051.4(ATM):c.7511T>A (p.Met2504Lys) rs1060501644
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.4(ATM):c.7515+14A>C
NM_000051.4(ATM):c.7515+14A>G
NM_000051.4(ATM):c.7515+18C>A
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7515+1G>A rs1591161831
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7515+1del rs2136465036
NM_000051.4(ATM):c.7515+22_7515+23del rs2136466787
NM_000051.4(ATM):c.7515+4A>G rs1565530434
NM_000051.4(ATM):c.7515+4del rs2136465168
NM_000051.4(ATM):c.7515+5G>A rs1555123361
NM_000051.4(ATM):c.7515+5_7515+7del rs2136465391
NM_000051.4(ATM):c.7515+6T>C rs1250327887
NM_000051.4(ATM):c.7515+7G>A rs2136465577
NM_000051.4(ATM):c.7515+9T>A rs1465593444
NM_000051.4(ATM):c.7515+9T>G rs1465593444
NM_000051.4(ATM):c.7515G>A (p.Lys2505=)
NM_000051.4(ATM):c.7516-11T>G
NM_000051.4(ATM):c.7516-13T>G rs2136489988
NM_000051.4(ATM):c.7516-14T>A
NM_000051.4(ATM):c.7516-14T>C rs1254619756
NM_000051.4(ATM):c.7516-16T>C rs2086218796
NM_000051.4(ATM):c.7516-16T>G
NM_000051.4(ATM):c.7516-18T>A
NM_000051.4(ATM):c.7516-1G>C
NM_000051.4(ATM):c.7516-20T>C
NM_000051.4(ATM):c.7516-20T>G rs2136489275
NM_000051.4(ATM):c.7516-2A>G
NM_000051.4(ATM):c.7516-4G>T rs876660105
NM_000051.4(ATM):c.7516-5G>A rs1057520837
NM_000051.4(ATM):c.7516-6T>C rs1057521003
NM_000051.4(ATM):c.7516-7del rs1591166840
NM_000051.4(ATM):c.7516-8A>T rs2136490103
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.7517G>A (p.Arg2506Lys) rs1555123920
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7518A>G (p.Arg2506=) rs2086221982
NM_000051.4(ATM):c.7519G>C (p.Asp2507His) rs2136491059
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu) rs751234924
NM_000051.4(ATM):c.7525A>T (p.Met2509Leu) rs979101125
NM_000051.4(ATM):c.7526dup (p.Met2509fs)
NM_000051.4(ATM):c.7527G>A (p.Met2509Ile) rs1060501579
NM_000051.4(ATM):c.7527G>C (p.Met2509Ile)
NM_000051.4(ATM):c.7533T>C (p.Ile2511=) rs786201279
NM_000051.4(ATM):c.7533del (p.Pro2512fs)
NM_000051.4(ATM):c.7534C>A (p.Pro2512Thr) rs1565532052
NM_000051.4(ATM):c.7534C>T (p.Pro2512Ser) rs1565532052
NM_000051.4(ATM):c.7536A>G (p.Pro2512=) rs786202802
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala) rs1480066803
NM_000051.4(ATM):c.7538C>G (p.Thr2513Arg) rs2136492214
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
NM_000051.4(ATM):c.7539A>T (p.Thr2513=)
NM_000051.4(ATM):c.7540T>C (p.Tyr2514His) rs1555123985
NM_000051.4(ATM):c.7541A>G (p.Tyr2514Cys) rs1555123994
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe) rs1555123994
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7543A>G (p.Lys2515Glu) rs1555124004
NM_000051.4(ATM):c.7544A>C (p.Lys2515Thr) rs1591167340
NM_000051.4(ATM):c.7549_7562delinsATG (p.Leu2517fs) rs1591167422
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
NM_000051.4(ATM):c.7550del (p.Leu2517fs) rs2136492942
NM_000051.4(ATM):c.7552C>A (p.Pro2518Thr)
NM_000051.4(ATM):c.7553C>A (p.Pro2518His) rs879254136
NM_000051.4(ATM):c.7554del (p.Met2520fs)
NM_000051.4(ATM):c.7555C>A (p.Leu2519Ile) rs1555124019
NM_000051.4(ATM):c.7555C>G (p.Leu2519Val) rs1555124019
NM_000051.4(ATM):c.7556T>C (p.Leu2519Pro) rs2136493486
NM_000051.4(ATM):c.7557T>C (p.Leu2519=) rs1060504266
NM_000051.4(ATM):c.7557dup (p.Met2520fs) rs2136493530
NM_000051.4(ATM):c.7558A>C (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7558A>T (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7559T>C (p.Met2520Thr)
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile) rs1591167543
NM_000051.4(ATM):c.7561T>G (p.Tyr2521Asp) rs2136493941
NM_000051.4(ATM):c.7562A>C (p.Tyr2521Ser)
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.4(ATM):c.7562A>T (p.Tyr2521Phe)
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter) rs772228129
NM_000051.4(ATM):c.7564C>G (p.Gln2522Glu) rs1591167598
NM_000051.4(ATM):c.7564del (p.Gln2522fs)
NM_000051.4(ATM):c.7565A>C (p.Gln2522Pro)
NM_000051.4(ATM):c.7565A>G (p.Gln2522Arg) rs1555124039
NM_000051.4(ATM):c.7566A>C (p.Gln2522His)
NM_000051.4(ATM):c.7566A>T (p.Gln2522His) rs775621333
NM_000051.4(ATM):c.7567T>C (p.Leu2523=) rs1565532289
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr) rs769142993
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser) rs769142993
NM_000051.4(ATM):c.7571C>T (p.Ala2524Val) rs876660663
NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe) rs1555124054
NM_000051.4(ATM):c.7576A>G (p.Arg2526Gly) rs1591167721
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys) rs876659323
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.4(ATM):c.7579A>G (p.Met2527Val)
NM_000051.4(ATM):c.7581G>A (p.Met2527Ile) rs2086230646
NM_000051.4(ATM):c.7585del (p.Thr2529fs)
NM_000051.4(ATM):c.7587C>G (p.Thr2529=)
NM_000051.4(ATM):c.7587C>T (p.Thr2529=) rs890244103
NM_000051.4(ATM):c.7588A>G (p.Lys2530Glu) rs2086231222
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
NM_000051.4(ATM):c.7592T>G (p.Met2531Arg) rs587781365
NM_000051.4(ATM):c.7594A>G (p.Met2532Val) rs2136496697
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr) rs765654550
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.4(ATM):c.7597G>A (p.Gly2533Arg)
NM_000051.4(ATM):c.7599A>G (p.Gly2533=) rs2136497122
NM_000051.4(ATM):c.7599del (p.Gly2534fs) rs2136497216
NM_000051.4(ATM):c.7603dup (p.Leu2535fs) rs2136497534
NM_000051.4(ATM):c.7605A>G (p.Leu2535=) rs1591167954
NM_000051.4(ATM):c.7606G>T (p.Gly2536Ter) rs2136497891
NM_000051.4(ATM):c.7607G>C (p.Gly2536Ala) rs2136497972
NM_000051.4(ATM):c.7608del (p.His2538fs) rs1565532554
NM_000051.4(ATM):c.7609T>C (p.Phe2537Leu) rs2086234277
NM_000051.4(ATM):c.7613A>G (p.His2538Arg)
NM_000051.4(ATM):c.7614T>C (p.His2538=)
NM_000051.4(ATM):c.7614T>G (p.His2538Gln) rs2086234461
NM_000051.4(ATM):c.7616A>G (p.Glu2539Gly)
NM_000051.4(ATM):c.7617A>C (p.Glu2539Asp) rs1591168001
NM_000051.4(ATM):c.7621C>T (p.Leu2541Phe) rs1565532615
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7623C>T (p.Leu2541=) rs2086235791
NM_000051.4(ATM):c.7625A>G (p.Asn2542Ser) rs2086236181
NM_000051.4(ATM):c.7626T>A (p.Asn2542Lys) rs1555124134
NM_000051.4(ATM):c.7626T>C (p.Asn2542=)
NM_000051.4(ATM):c.7629+12T>G
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+14A>C
NM_000051.4(ATM):c.7629+14A>G rs2136500635
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1del
NM_000051.4(ATM):c.7629+2dup rs1555124141
NM_000051.4(ATM):c.7629+3A>C rs752251778
NM_000051.4(ATM):c.7629+7A>T
NM_000051.4(ATM):c.7629+9A>C rs2136500176
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-11T>C
NM_000051.4(ATM):c.7630-12C>A
NM_000051.4(ATM):c.7630-12_7630-11del
NM_000051.4(ATM):c.7630-16A>C
NM_000051.4(ATM):c.7630-16A>G rs2136513501
NM_000051.4(ATM):c.7630-16_7630-10del rs2136513424
NM_000051.4(ATM):c.7630-16_7630-14del
NM_000051.4(ATM):c.7630-17_7630-16del
NM_000051.4(ATM):c.7630-19A>C
NM_000051.4(ATM):c.7630-19A>G
NM_000051.4(ATM):c.7630-1G>A rs2086285148
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7630-7C>A rs730881276
NM_000051.4(ATM):c.7630-7C>T rs730881276
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val) rs1555124455
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro) rs1555124459
NM_000051.4(ATM):c.7631del (p.Leu2544fs) rs1591171040
NM_000051.4(ATM):c.7632A>C (p.Leu2544=) rs1363431568
NM_000051.4(ATM):c.7632A>G (p.Leu2544=)
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7639A>G (p.Arg2547Gly) rs1565533544
NM_000051.4(ATM):c.7640G>T (p.Arg2547Ile) rs2136515485
NM_000051.4(ATM):c.7645T>C (p.Ser2549Pro)
NM_000051.4(ATM):c.7647A>G (p.Ser2549=)
NM_000051.4(ATM):c.7647A>T (p.Ser2549=) rs1591171175
NM_000051.4(ATM):c.7648A>C (p.Met2550Leu) rs878853545
NM_000051.4(ATM):c.7650G>T (p.Met2550Ile) rs1565533594
NM_000051.4(ATM):c.7651G>A (p.Asp2551Asn) rs2086287943
NM_000051.4(ATM):c.7651G>C (p.Asp2551His)
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.4(ATM):c.7653T>C (p.Asp2551=)
NM_000051.4(ATM):c.7654C>A (p.His2552Asn) rs786202174
NM_000051.4(ATM):c.7654C>T (p.His2552Tyr) rs786202174
NM_000051.4(ATM):c.7655A>G (p.His2552Arg)
NM_000051.4(ATM):c.7655_7656insGA (p.His2552fs) rs1565533629
NM_000051.4(ATM):c.7656C>T (p.His2552=) rs1555124473
NM_000051.4(ATM):c.7657C>A (p.Pro2553Thr) rs1555124475
NM_000051.4(ATM):c.7657C>G (p.Pro2553Ala)
NM_000051.4(ATM):c.7657C>T (p.Pro2553Ser)
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu) rs864622368
NM_000051.4(ATM):c.7659C>T (p.Pro2553=) rs1591171386
NM_000051.4(ATM):c.7660C>T (p.His2554Tyr) rs1555124482
NM_000051.4(ATM):c.7660del (p.His2554fs) rs2086289400
NM_000051.4(ATM):c.7661A>G (p.His2554Arg) rs1555124487
NM_000051.4(ATM):c.7661A>T (p.His2554Leu) rs1555124487
NM_000051.4(ATM):c.7663C>A (p.His2555Asn) rs786203651
NM_000051.4(ATM):c.7665C>T (p.His2555=) rs908781160
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer) rs1555124503
NM_000051.4(ATM):c.7666_7684del (p.Thr2556fs) rs2136518319
NM_000051.4(ATM):c.7667C>A (p.Thr2556Asn) rs1226186392
NM_000051.4(ATM):c.7667C>G (p.Thr2556Ser)
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs) rs1565533778
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter) rs2086293039
NM_000051.4(ATM):c.7670del (p.Leu2557fs) rs1565533778
NM_000051.4(ATM):c.7671G>C (p.Leu2557Phe) rs2086293337
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7674T>C (p.Phe2558=) rs1291388225
NM_000051.4(ATM):c.7674TAT[1] (p.Ile2560del) rs1591171617
NM_000051.4(ATM):c.7674_7686delinsA (p.Phe2558_Ala2562delinsLeu) rs2086293945
NM_000051.4(ATM):c.7674dup (p.Ile2559fs)
NM_000051.4(ATM):c.7675del (p.Ile2559fs)
NM_000051.4(ATM):c.7676_7680del (p.Ile2559fs) rs2136519174
NM_000051.4(ATM):c.7677T>C (p.Ile2559=) rs2136519388
NM_000051.4(ATM):c.7679T>A (p.Ile2560Lys)
NM_000051.4(ATM):c.7679T>C (p.Ile2560Thr) rs2086294390
NM_000051.4(ATM):c.7679T>G (p.Ile2560Arg)
NM_000051.4(ATM):c.7679dup (p.Leu2561fs) rs2136519577
NM_000051.4(ATM):c.7681C>T (p.Leu2561=) rs1060504314
NM_000051.4(ATM):c.7683G>C (p.Leu2561=) rs2136519792
NM_000051.4(ATM):c.7684G>T (p.Ala2562Ser) rs1555124521
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7685C>G (p.Ala2562Gly) rs1322308382
NM_000051.4(ATM):c.7687T>A (p.Leu2563Ile) rs1208002418
NM_000051.4(ATM):c.7688T>A (p.Leu2563Ter)
NM_000051.4(ATM):c.7688T>C (p.Leu2563Ser) rs2136520333
NM_000051.4(ATM):c.7690G>C (p.Ala2564Pro) rs940285361
NM_000051.4(ATM):c.7691C>T (p.Ala2564Val)
NM_000051.4(ATM):c.7693A>G (p.Asn2565Asp) rs1555124543
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
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.7697C>G (p.Ala2566Gly) rs2086297257
NM_000051.4(ATM):c.7698A>G (p.Ala2566=)
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7701C>T (p.Asn2567=) rs786201637
NM_000051.4(ATM):c.7701_7702del (p.Asn2567fs) rs1064793359
NM_000051.4(ATM):c.7702A>G (p.Arg2568Gly) rs2086298156
NM_000051.4(ATM):c.7703G>A (p.Arg2568Lys) rs1591171915
NM_000051.4(ATM):c.7703G>C (p.Arg2568Thr)
NM_000051.4(ATM):c.7704A>T (p.Arg2568Ser) rs2136521869
NM_000051.4(ATM):c.7705G>A (p.Asp2569Asn) rs898880638
NM_000051.4(ATM):c.7705G>C (p.Asp2569His) rs898880638
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7705del (p.Asp2569fs) rs2136522117
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.4(ATM):c.7706del (p.Asp2569fs) rs2086299809
NM_000051.4(ATM):c.7710A>G (p.Glu2570=) rs760215505
NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.4(ATM):c.7714C>T (p.Leu2572=) rs1472587727
NM_000051.4(ATM):c.7719T>G (p.Thr2573=) rs2136523339
NM_000051.4(ATM):c.7723C>T (p.Pro2575Ser)
NM_000051.4(ATM):c.7724C>A (p.Pro2575Gln) rs1591172186
NM_000051.4(ATM):c.7725del (p.Glu2576fs)
NM_000051.4(ATM):c.7731A>G (p.Val2577=) rs2136524528
NM_000051.4(ATM):c.7732G>A (p.Ala2578Thr) rs1555124632
NM_000051.4(ATM):c.7734C>G (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7734C>T (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7735A>C (p.Arg2579=) rs2136524882
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
NM_000051.4(ATM):c.7737AAG[1] (p.Arg2580del) rs1064795204
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile) rs761790685
NM_000051.4(ATM):c.7743C>A (p.Ser2581Arg) rs2086306575
NM_000051.4(ATM):c.7743C>T (p.Ser2581=)
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)
NM_000051.4(ATM):c.7746A>T (p.Arg2582Ser)
NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)
NM_000051.4(ATM):c.7748T>A (p.Ile2583Lys) rs2086307984
NM_000051.4(ATM):c.7749A>T (p.Ile2583=) rs2136526242
NM_000051.4(ATM):c.7750dup (p.Thr2584fs)
NM_000051.4(ATM):c.7752T>C (p.Thr2584=) rs2136526454
NM_000051.4(ATM):c.7753A>G (p.Lys2585Glu) rs2086308918
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter) rs2086308918
NM_000051.4(ATM):c.7758T>C (p.Asn2586=) rs2136526693
NM_000051.4(ATM):c.7758T>G (p.Asn2586Lys) rs2136526693
NM_000051.4(ATM):c.7759G>A (p.Val2587Met) rs1285491916
NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT (p.Val2587_Pro2588insAsnAsnTer) rs2136525978
NM_000051.4(ATM):c.7764T>A (p.Pro2588=) rs1591172609
NM_000051.4(ATM):c.7764del (p.Lys2589fs)
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.4(ATM):c.7765A>G (p.Lys2589Glu) rs876659557
NM_000051.4(ATM):c.7766A>G (p.Lys2589Arg) rs878853546
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.7768C>G (p.Gln2590Glu) rs876659561
NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter) rs876659561
NM_000051.4(ATM):c.7769A>G (p.Gln2590Arg) rs1555124706
NM_000051.4(ATM):c.7770A>C (p.Gln2590His)
NM_000051.4(ATM):c.7770A>G (p.Gln2590=) rs864622437
NM_000051.4(ATM):c.7771A>C (p.Ser2591Arg) rs2086312114
NM_000051.4(ATM):c.7772G>A (p.Ser2591Asn) rs730881319
NM_000051.4(ATM):c.7773C>T (p.Ser2591=) rs1045232065
NM_000051.4(ATM):c.7775C>T (p.Ser2592Phe)
NM_000051.4(ATM):c.7776T>G (p.Ser2592=)
NM_000051.4(ATM):c.7779G>C (p.Gln2593His)
NM_000051.4(ATM):c.7782T>A (p.Leu2594=) rs905474729
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.7786G>A (p.Glu2596Lys) rs1555124747
NM_000051.4(ATM):c.7788+10T>C rs1555124759
NM_000051.4(ATM):c.7788+10T>G rs1555124759
NM_000051.4(ATM):c.7788+12A>T rs1555124760
NM_000051.4(ATM):c.7788+18_7788+19del
NM_000051.4(ATM):c.7788+19C>G rs201990371
NM_000051.4(ATM):c.7788+1G>A rs1565534524
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7788+20G>T
NM_000051.4(ATM):c.7788+20_7788+24del
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7788+4T>C rs2136529910
NM_000051.4(ATM):c.7788+8G>C
NM_000051.4(ATM):c.7788+9A>G rs1182105888
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.7789-11T>C
NM_000051.4(ATM):c.7789-14T>C
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000051.4(ATM):c.7789-15_7789-9del
NM_000051.4(ATM):c.7789-16T>C
NM_000051.4(ATM):c.7789-16T>G
NM_000051.4(ATM):c.7789-19T>C rs560800769
NM_000051.4(ATM):c.7789-19_7789-16del
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7789-22_7789-18del
NM_000051.4(ATM):c.7789-29_7789-16del
NM_000051.4(ATM):c.7789-3T>C
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7789-4A>G rs2086401774
NM_000051.4(ATM):c.7789-5A>C
NM_000051.4(ATM):c.7789-5A>G
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.7789-9T>C
NM_000051.4(ATM):c.7789G>C (p.Asp2597His) rs1555125212
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7792del (p.Arg2598fs) rs1591178022
NM_000051.4(ATM):c.7794A>C (p.Arg2598=) rs1555125220
NM_000051.4(ATM):c.7796C>T (p.Thr2599Ile) rs2086404569
NM_000051.4(ATM):c.7796del (p.Thr2599fs) rs1555125223
NM_000051.4(ATM):c.7797A>G (p.Thr2599=) rs2086405045
NM_000051.4(ATM):c.7798G>A (p.Glu2600Lys) rs2086405495
NM_000051.4(ATM):c.7800G>A (p.Glu2600=) rs1591178097
NM_000051.4(ATM):c.7804G>A (p.Ala2602Thr) rs1555125227
NM_000051.4(ATM):c.7807A>G (p.Asn2603Asp) rs1591178124
NM_000051.4(ATM):c.7807A>T (p.Asn2603Tyr)
NM_000051.4(ATM):c.7809T>A (p.Asn2603Lys)
NM_000051.4(ATM):c.7809T>C (p.Asn2603=) rs2136562134
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser) rs1484346818
NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del) rs786203830
NM_000051.4(ATM):c.7814T>C (p.Ile2605Thr) rs2136562632
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg) rs1459650575
NM_000051.4(ATM):c.7819T>G (p.Cys2607Gly) rs1459650575
NM_000051.4(ATM):c.7822A>G (p.Thr2608Ala) rs2086408912
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.7828A>C (p.Arg2610=)
NM_000051.4(ATM):c.7829G>C (p.Arg2610Thr) rs2136563969
NM_000051.4(ATM):c.7831del (p.Ser2611fs)
NM_000051.4(ATM):c.7833T>C (p.Ser2611=) rs2136564372
NM_000051.4(ATM):c.7834A>C (p.Arg2612=) rs1305691166
NM_000051.4(ATM):c.7834A>G (p.Arg2612Gly)
NM_000051.4(ATM):c.7834del (p.Arg2612fs) rs2086411154
NM_000051.4(ATM):c.7835G>A (p.Arg2612Lys) rs138048269
NM_000051.4(ATM):c.7836G>A (p.Arg2612=) rs761324887
NM_000051.4(ATM):c.7836G>C (p.Arg2612Ser) rs761324887
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7839A>T (p.Arg2613Ser)
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
NM_000051.4(ATM):c.7841C>A (p.Pro2614His) rs769207177
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu) rs769207177
NM_000051.4(ATM):c.7842T>G (p.Pro2614=) rs876660827
NM_000051.4(ATM):c.7845G>T (p.Gln2615His)
NM_000051.4(ATM):c.7846A>G (p.Met2616Val) rs876658208
NM_000051.4(ATM):c.7849G>T (p.Val2617Phe) rs1555125331
NM_000051.4(ATM):c.7850T>A (p.Val2617Asp)
NM_000051.4(ATM):c.7850T>G (p.Val2617Gly)
NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly) rs1057521185
NM_000051.4(ATM):c.7853G>A (p.Arg2618Lys)
NM_000051.4(ATM):c.7854A>C (p.Arg2618Ser) rs1565536250
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly) rs2086416652
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu) rs1427723678
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe) rs1427723678
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.7859T>C (p.Val2620Ala)
NM_000051.4(ATM):c.7860T>G (p.Val2620=) rs1555125353
NM_000051.4(ATM):c.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.4(ATM):c.7864G>A (p.Ala2622Thr) rs2136567791
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile) rs774118570
NM_000051.4(ATM):c.7867C>G (p.Leu2623Val) rs774118570
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe) rs774118570
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala) rs876660121
NM_000051.4(ATM):c.7874A>G (p.Asp2625Gly) rs876660121
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7876G>A (p.Ala2626Thr)
NM_000051.4(ATM):c.7877C>G (p.Ala2626Gly)
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.4(ATM):c.7878T>G (p.Ala2626=) rs2086422316
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His) rs2086422796
NM_000051.4(ATM):c.7880A>C (p.Tyr2627Ser)
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=) rs2086423868
NM_000051.4(ATM):c.7882A>C (p.Ile2628Leu) rs587781370
NM_000051.4(ATM):c.7882A>G (p.Ile2628Val) rs587781370
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val) rs2136569929
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met) rs752886000
NM_000051.4(ATM):c.7888T>A (p.Leu2630Ile) rs1555125427
NM_000051.4(ATM):c.7888T>G (p.Leu2630Val) rs1555125427
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter) rs1591178998
NM_000051.4(ATM):c.7896C>G (p.Asn2632Lys) rs1591179036
NM_000051.4(ATM):c.7899A>G (p.Leu2633=) rs2086426925
NM_000051.4(ATM):c.7901A>T (p.Asp2634Val) rs876660909
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly) rs754002355
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.7911G>A (p.Gln2637=) rs2136572151
NM_000051.4(ATM):c.7911G>T (p.Gln2637His) rs2136572151
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter) rs2136572656
NM_000051.4(ATM):c.7916A>G (p.Lys2639Arg)
NM_000051.4(ATM):c.7917G>A (p.Lys2639=) rs1555125501
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn) rs1555125501
NM_000051.4(ATM):c.7918A>C (p.Thr2640Pro)
NM_000051.4(ATM):c.7921C>G (p.Gln2641Glu) rs769523686
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7924A>G (p.Arg2642Gly)
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7926A>G (p.Arg2642=)
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+12T>C
NM_000051.4(ATM):c.7927+13T>C
NM_000051.4(ATM):c.7927+13del rs587781324
NM_000051.4(ATM):c.7927+13dup rs587781324
NM_000051.4(ATM):c.7927+14A>C rs770850205
NM_000051.4(ATM):c.7927+14A>G rs770850205
NM_000051.4(ATM):c.7927+14A>T
NM_000051.4(ATM):c.7927+16A>C rs746438364
NM_000051.4(ATM):c.7927+17G>A rs774276048
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7927+1G>C rs1555125532
NM_000051.4(ATM):c.7927+1_7927+2dup rs2086432329
NM_000051.4(ATM):c.7927+20G>T
NM_000051.4(ATM):c.7927+2T>C
NM_000051.4(ATM):c.7927+2T>G rs2086432758
NM_000051.4(ATM):c.7927+3A>G
NM_000051.4(ATM):c.7927+4del rs2086433771
NM_000051.4(ATM):c.7927+5G>A rs1299306446
NM_000051.4(ATM):c.7927+5G>C rs1299306446
NM_000051.4(ATM):c.7927+5G>T rs1299306446
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7927+6T>G rs1591179460
NM_000051.4(ATM):c.7928-10T>G rs188404773
NM_000051.4(ATM):c.7928-15C>A
NM_000051.4(ATM):c.7928-18C>G
NM_000051.4(ATM):c.7928-18C>T
NM_000051.4(ATM):c.7928-1G>A rs1555126163
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7928-2A>T rs864622610
NM_000051.4(ATM):c.7928-3C>T rs1555126153
NM_000051.4(ATM):c.7928-4A>C rs876658629
NM_000051.4(ATM):c.7928-4A>G rs876658629
NM_000051.4(ATM):c.7928-5T>C rs1591183992
NM_000051.4(ATM):c.7928-7A>T
NM_000051.4(ATM):c.7928-8A>G rs2086542058
NM_000051.4(ATM):c.7928-9T>C rs1060504261
NM_000051.4(ATM):c.7929delA (p.Gly2644fs) rs1064795550
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.7930G>T (p.Gly2644Cys) rs587781897
NM_000051.4(ATM):c.7932C>T (p.Gly2644=) rs2136610997
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val) rs937831636
NM_000051.4(ATM):c.7936A>C (p.Asn2646His) rs1060501575
NM_000051.4(ATM):c.7937A>G (p.Asn2646Ser)
NM_000051.4(ATM):c.7939A>G (p.Ile2647Val)
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs) rs2136611559
NM_000051.4(ATM):c.7941T>G (p.Ile2647Met)
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7942C>G (p.Pro2648Ala) rs878853547
NM_000051.4(ATM):c.7942C>T (p.Pro2648Ser) rs878853547
NM_000051.4(ATM):c.7943C>T (p.Pro2648Leu)
NM_000051.4(ATM):c.7947A>C (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7947A>G (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn) rs786202219
NM_000051.4(ATM):c.7949A>C (p.Asp2650Ala) rs1060501635
NM_000051.4(ATM):c.7949A>G (p.Asp2650Gly)
NM_000051.4(ATM):c.7950C>A (p.Asp2650Glu) rs1060504298
NM_000051.4(ATM):c.7950C>T (p.Asp2650=) rs1060504298
NM_000051.4(ATM):c.7951C>A (p.Gln2651Lys) rs587781994
NM_000051.4(ATM):c.7951C>G (p.Gln2651Glu) rs587781994
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7953del (p.Gln2651fs) rs2136612771
NM_000051.4(ATM):c.7955C>T (p.Pro2652Leu) rs1565538433
NM_000051.4(ATM):c.7958T>C (p.Ile2653Thr)
NM_000051.4(ATM):c.7958_7960del (p.Ile2653del) rs1555126226
NM_000051.4(ATM):c.7959T>C (p.Ile2653=) rs2136613483
NM_000051.4(ATM):c.7960A>G (p.Thr2654Ala) rs2136613550
NM_000051.4(ATM):c.7960dup (p.Thr2654fs) rs2136613666
NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser) rs786203621
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile) rs786203621
NM_000051.4(ATM):c.7963A>G (p.Lys2655Glu)
NM_000051.4(ATM):c.7963A>T (p.Lys2655Ter) rs1289658632
NM_000051.4(ATM):c.7964A>C (p.Lys2655Thr) rs2086549249
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe) rs1591184384
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
NM_000051.4(ATM):c.7967T>G (p.Leu2656Arg) rs121434218
NM_000051.4(ATM):c.7968T>C (p.Leu2656=) rs1591184410
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)
NM_000051.4(ATM):c.7969A>G (p.Lys2657Glu) rs755706903
NM_000051.4(ATM):c.7971G>A (p.Lys2657=)
NM_000051.4(ATM):c.7972A>T (p.Asn2658Tyr) rs2086550573
NM_000051.4(ATM):c.7975_7976insSVAelement rs2086551043
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.4(ATM):c.7976T>G (p.Leu2659Ter) rs1565538536
NM_000051.4(ATM):c.7976dup (p.Leu2659fs)
NM_000051.4(ATM):c.7977A>G (p.Leu2659=) rs2136615106
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del) rs2086551461
NM_000051.4(ATM):c.7978G>A (p.Glu2660Lys)
NM_000051.4(ATM):c.7978del (p.Glu2660fs) rs1591184471
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.7987G>C (p.Val2663Leu)
NM_000051.4(ATM):c.7987G>T (p.Val2663Phe)
NM_000051.4(ATM):c.7988_7991del (p.Val2663fs) rs587776550
NM_000051.4(ATM):c.7990G>T (p.Val2664Phe) rs2086554329
NM_000051.4(ATM):c.7991T>G (p.Val2664Gly)
NM_000051.4(ATM):c.7991_8010+8dup rs1555126295
NM_000051.4(ATM):c.7992C>T (p.Val2664=) rs1591184637
NM_000051.4(ATM):c.7994C>A (p.Pro2665His) rs1591184690
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu) rs1591184690
NM_000051.4(ATM):c.7995T>A (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7995T>G (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7996A>C (p.Thr2666Pro) rs745775382
NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile) rs730881384
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu) rs34099398
NM_000051.4(ATM):c.8001G>A (p.Met2667Ile) rs1591184841
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys) rs772097933
NM_000051.4(ATM):c.8002G>C (p.Glu2668Gln) rs772097933
NM_000051.4(ATM):c.8008A>G (p.Lys2670Glu) rs2086557212
NM_000051.4(ATM):c.8010+11A>C rs760588708
NM_000051.4(ATM):c.8010+11A>G
NM_000051.4(ATM):c.8010+14A>T rs2136618870
NM_000051.4(ATM):c.8010+18C>A rs2086560371
NM_000051.4(ATM):c.8010+18C>G
NM_000051.4(ATM):c.8010+18_8010+19del rs750095790
NM_000051.4(ATM):c.8010+19T>C rs1555126346
NM_000051.4(ATM):c.8010+19T>G
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010+20T>C rs2136619908
NM_000051.4(ATM):c.8010+21_8010+24del
NM_000051.4(ATM):c.8010+2T>C rs1591184927
NM_000051.4(ATM):c.8010+2T>G
NM_000051.4(ATM):c.8010+30_8010+31insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCTTGATTTTTTTT rs2136618959
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8010+3A>T
NM_000051.4(ATM):c.8010+5T>C rs56256497
NM_000051.4(ATM):c.8010+5T>G rs56256497
NM_000051.4(ATM):c.8010+6T>C rs2086559039
NM_000051.4(ATM):c.8010+6T>G
NM_000051.4(ATM):c.8010+9C>T
NM_000051.4(ATM):c.8011-10C>G rs1555127008
NM_000051.4(ATM):c.8011-12T>C rs2136651285
NM_000051.4(ATM):c.8011-13A>T
NM_000051.4(ATM):c.8011-16T>C rs776948701
NM_000051.4(ATM):c.8011-1G>T rs1555127017
NM_000051.4(ATM):c.8011-20C>A
NM_000051.4(ATM):c.8011-20C>T
NM_000051.4(ATM):c.8011-2A>C rs1591190908
NM_000051.4(ATM):c.8011-2A>G rs1591190908
NM_000051.4(ATM):c.8011-4T>G rs2086667288
NM_000051.4(ATM):c.8011-4_8011-2del rs2136651774
NM_000051.4(ATM):c.8011-6T>C rs762092284
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8011-7T>C rs2136651700
NM_000051.4(ATM):c.8011-8T>G rs1189310621
NM_000051.4(ATM):c.8011-9T>A
NM_000051.4(ATM):c.8011-9T>C rs1591190803
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr) rs1555127024
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8015A>G (p.Asp2672Gly) rs763161651
NM_000051.4(ATM):c.8015A>T (p.Asp2672Val)
NM_000051.4(ATM):c.8016C>T (p.Asp2672=) rs1591191019
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr) rs1555127035
NM_000051.4(ATM):c.8021C>T (p.Thr2674Ile)
NM_000051.4(ATM):c.8024G>A (p.Gly2675Glu)
NM_000051.4(ATM):c.8027A>G (p.Glu2676Gly)
NM_000051.4(ATM):c.8027A>T (p.Glu2676Val) rs2136653996
NM_000051.4(ATM):c.8028A>C (p.Glu2676Asp)
NM_000051.4(ATM):c.8028A>G (p.Glu2676=) rs1389648050
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs) rs2086671320
NM_000051.4(ATM):c.8031T>G (p.Tyr2677Ter)
NM_000051.4(ATM):c.8035A>G (p.Asn2679Asp)
NM_000051.4(ATM):c.8036A>G (p.Asn2679Ser)
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>A (p.Val2681Met) rs1064795034
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.4(ATM):c.8042T>G (p.Val2681Gly)
NM_000051.4(ATM):c.8043G>T (p.Val2681=)
NM_000051.4(ATM):c.8043dup (p.Thr2682fs) rs2086672570
NM_000051.4(ATM):c.8044A>C (p.Thr2682Pro) rs730881320
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala) rs730881320
NM_000051.4(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.4(ATM):c.8047dup (p.Ile2683fs) rs2086674096
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr) rs1555127096
NM_000051.4(ATM):c.8048_8049del (p.Ile2683fs) rs1565540673
NM_000051.4(ATM):c.8049A>G (p.Ile2683Met) rs1292192410
NM_000051.4(ATM):c.8049_8056dup (p.Phe2686fs)
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs) rs2086675006
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg) rs1555127107
NM_000051.4(ATM):c.8052G>C (p.Gln2684His)
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8053T>C (p.Ser2685Pro)
NM_000051.4(ATM):c.8054C>T (p.Ser2685Leu)
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.4(ATM):c.8057T>C (p.Phe2686Ser)
NM_000051.4(ATM):c.8062G>C (p.Ala2688Pro)
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8068T>G (p.Phe2690Val) rs2086677473
NM_000051.4(ATM):c.8069T>G (p.Phe2690Cys) rs2086677926
NM_000051.4(ATM):c.8071C>A (p.Arg2691Ser) rs531980488
NM_000051.4(ATM):c.8071C>G (p.Arg2691Gly) rs531980488
NM_000051.4(ATM):c.8072G>C (p.Arg2691Pro) rs876658385
NM_000051.4(ATM):c.8072G>T (p.Arg2691Leu) rs876658385
NM_000051.4(ATM):c.8073C>G (p.Arg2691=) rs1215882325
NM_000051.4(ATM):c.8074T>C (p.Leu2692=)
NM_000051.4(ATM):c.8077G>A (p.Ala2693Thr) rs2086679024
NM_000051.4(ATM):c.8077G>C (p.Ala2693Pro)
NM_000051.4(ATM):c.8078C>A (p.Ala2693Glu) rs2136659025
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del) rs1565540828
NM_000051.4(ATM):c.8080G>A (p.Gly2694Arg) rs1555127157
NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter) rs1555127157
NM_000051.4(ATM):c.8081G>A (p.Gly2694Glu)
NM_000051.4(ATM):c.8081G>C (p.Gly2694Ala) rs2086679689
NM_000051.4(ATM):c.8082A>C (p.Gly2694=) rs540266635
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.4(ATM):c.8083G>C (p.Gly2695Arg) rs1555127166
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys) rs1555127166
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala) rs1060501680
NM_000051.4(ATM):c.8084G>T (p.Gly2695Val) rs1060501680
NM_000051.4(ATM):c.8085T>C (p.Gly2695=)
NM_000051.4(ATM):c.8086G>A (p.Val2696Ile) rs989577687
NM_000051.4(ATM):c.8087T>C (p.Val2696Ala) rs1591191762
NM_000051.4(ATM):c.8088A>G (p.Val2696=) rs2136659987
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.4(ATM):c.8089A>T (p.Asn2697Tyr) rs1555127177
NM_000051.4(ATM):c.8090A>G (p.Asn2697Ser) rs2136660129
NM_000051.4(ATM):c.8091T>C (p.Asn2697=) rs756887364
NM_000051.4(ATM):c.8093T>C (p.Leu2698Ser) rs2136660259
NM_000051.4(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.4(ATM):c.8095C>T (p.Pro2699Ser) rs2086682194
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu) rs879254209
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8099A>C (p.Lys2700Thr)
NM_000051.4(ATM):c.8100A>T (p.Lys2700Asn) rs778601472
NM_000051.4(ATM):c.8101A>C (p.Ile2701Leu)
NM_000051.4(ATM):c.8102_8103insTA (p.Ile2702fs) rs2136661064
NM_000051.4(ATM):c.8103A>T (p.Ile2701=) rs779803253
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr) rs876659735
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met) rs2086684779
NM_000051.4(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.4(ATM):c.8107G>A (p.Asp2703Asn) rs1555127236
NM_000051.4(ATM):c.8108A>T (p.Asp2703Val) rs1565541059
NM_000051.4(ATM):c.8110dup (p.Cys2704fs) rs2136661900
NM_000051.4(ATM):c.8111G>A (p.Cys2704Tyr) rs1555127249
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.4(ATM):c.8115A>C (p.Val2705=) rs1188411746
NM_000051.4(ATM):c.8116G>T (p.Gly2706Cys) rs2136662430
NM_000051.4(ATM):c.8117G>T (p.Gly2706Val)
NM_000051.4(ATM):c.8118T>C (p.Gly2706=) rs1057520990
NM_000051.4(ATM):c.8119T>A (p.Ser2707Thr) rs1555127276
NM_000051.4(ATM):c.8120C>T (p.Ser2707Phe) rs748016261
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr) rs587782719
NM_000051.4(ATM):c.8123A>G (p.Asp2708Gly)
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val) rs2086688080
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu) rs587781990
NM_000051.4(ATM):c.8124T>C (p.Asp2708=) rs587781990
NM_000051.4(ATM):c.8125G>A (p.Gly2709Ser) rs3218680
NM_000051.4(ATM):c.8126G>C (p.Gly2709Ala) rs2086688845
NM_000051.4(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.4(ATM):c.8128A>G (p.Lys2710Glu)
NM_000051.4(ATM):c.8129A>T (p.Lys2710Met) rs587782001
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
NM_000051.4(ATM):c.8133G>A (p.Glu2711=) rs1591192322
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs) rs2136663735
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
NM_000051.4(ATM):c.8136del (p.Arg2713fs)
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.8138G>T (p.Arg2713Ile) rs876659351
NM_000051.4(ATM):c.8139A>C (p.Arg2713Ser)
NM_000051.4(ATM):c.8139_8142dup (p.Leu2715fs)
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys) rs1060501695
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8141A>G (p.Gln2714Arg) rs2086691196
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe) rs1591192429
NM_000051.4(ATM):c.8145T>C (p.Leu2715=)
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile) rs730881385
NM_000051.4(ATM):c.8148_8150dup (p.Val2716_Lys2717insAsn) rs2086692643
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8149A>C (p.Lys2717Gln) rs774334667
NM_000051.4(ATM):c.8149A>G (p.Lys2717Glu) rs774334667
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.4(ATM):c.8150A>C (p.Lys2717Thr) rs1555127353
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.4(ATM):c.8151+11C>A rs555381912
NM_000051.4(ATM):c.8151+11_8151+17del
NM_000051.4(ATM):c.8151+13T>G
NM_000051.4(ATM):c.8151+17C>T rs761029795
NM_000051.4(ATM):c.8151+1G>A rs1591192583
NM_000051.4(ATM):c.8151+2T>C rs2136665852
NM_000051.4(ATM):c.8151+3G>A rs760065522
NM_000051.4(ATM):c.8151+4A>T rs1294982909
NM_000051.4(ATM):c.8151+5G>A rs1555127370
NM_000051.4(ATM):c.8151+5G>C rs1555127370
NM_000051.4(ATM):c.8151+5G>T
NM_000051.4(ATM):c.8151+6C>T rs910779363
NM_000051.4(ATM):c.8151+7C>T rs2086695144
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-11T>C rs2136690464
NM_000051.4(ATM):c.8152-16C>G rs1555128173
NM_000051.4(ATM):c.8152-17del rs2136689987
NM_000051.4(ATM):c.8152-18T>C
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8152-1G>C rs1398616877
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8152-20C>G
NM_000051.4(ATM):c.8152-20C>T rs1555128158
NM_000051.4(ATM):c.8152-260G>A
NM_000051.4(ATM):c.8152-2A>G rs777602049
NM_000051.4(ATM):c.8152-4G>A
NM_000051.4(ATM):c.8152-4G>C
NM_000051.4(ATM):c.8152-5T>C
NM_000051.4(ATM):c.8152-7T>C rs2086778829
NM_000051.4(ATM):c.8152-8T>C
NM_000051.4(ATM):c.8152-8T>G rs752705487
NM_000051.4(ATM):c.8152-9A>G rs1555128181
NM_000051.4(ATM):c.8152-9A>T
NM_000051.4(ATM):c.8152G>A (p.Gly2718Ser) rs1060501689
NM_000051.4(ATM):c.8152G>C (p.Gly2718Arg) rs1060501689
NM_000051.4(ATM):c.8154C>G (p.Gly2718=) rs371021126
NM_000051.4(ATM):c.8156G>C (p.Arg2719Pro)
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.4(ATM):c.8157T>C (p.Arg2719=) rs2136691533
NM_000051.4(ATM):c.8158G>C (p.Asp2720His) rs876659942
NM_000051.4(ATM):c.8159A>G (p.Asp2720Gly) rs745901025
NM_000051.4(ATM):c.8160T>A (p.Asp2720Glu)
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8161G>C (p.Asp2721His) rs876659066
NM_000051.4(ATM):c.8161G>T (p.Asp2721Tyr) rs876659066
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val) rs1555128280
NM_000051.4(ATM):c.8163C>A (p.Asp2721Glu) rs1305816583
NM_000051.4(ATM):c.8164C>G (p.Leu2722Val) rs587782399
NM_000051.4(ATM):c.8164_8181del (p.Leu2722_Val2727del) rs1555128287
NM_000051.4(ATM):c.8165T>G (p.Leu2722Arg) rs2086784272
NM_000051.4(ATM):c.8166G>C (p.Leu2722=)
NM_000051.4(ATM):c.8167A>G (p.Arg2723Gly)
NM_000051.4(ATM):c.8168G>T (p.Arg2723Ile) rs1555128301
NM_000051.4(ATM):c.8170C>A (p.Gln2724Lys) rs2086784990
NM_000051.4(ATM):c.8170C>G (p.Gln2724Glu)
NM_000051.4(ATM):c.8170C>T (p.Gln2724Ter) rs2086784990
NM_000051.4(ATM):c.8171A>G (p.Gln2724Arg) rs1565543300
NM_000051.4(ATM):c.8173G>A (p.Asp2725Asn) rs587782049
NM_000051.4(ATM):c.8173G>T (p.Asp2725Tyr) rs587782049
NM_000051.4(ATM):c.8174A>C (p.Asp2725Ala)
NM_000051.4(ATM):c.8174A>G (p.Asp2725Gly) rs1555128314
NM_000051.4(ATM):c.8174A>T (p.Asp2725Val) rs1555128314
NM_000051.4(ATM):c.8175T>G (p.Asp2725Glu) rs1431188311
NM_000051.4(ATM):c.8178T>G (p.Ala2726=) rs367575159
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala) rs1565543359
NM_000051.4(ATM):c.8180T>G (p.Val2727Gly) rs1565543359
NM_000051.4(ATM):c.8181C>T (p.Val2727=) rs2136693653
NM_000051.4(ATM):c.8182A>T (p.Met2728Leu) rs1555128338
NM_000051.4(ATM):c.8182dup (p.Met2728fs) rs2136693800
NM_000051.4(ATM):c.8185C>G (p.Gln2729Glu) rs587781967
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8186A>C (p.Gln2729Pro) rs1555128350
NM_000051.4(ATM):c.8186A>G (p.Gln2729Arg)
NM_000051.4(ATM):c.8187A>G (p.Gln2729=) rs587781946
NM_000051.4(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8188C>G (p.Gln2730Glu) rs587782317
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter) rs587782317
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro) rs762154857
NM_000051.4(ATM):c.8189A>G (p.Gln2730Arg) rs762154857
NM_000051.4(ATM):c.8189A>T (p.Gln2730Leu) rs762154857
NM_000051.4(ATM):c.8190G>C (p.Gln2730His) rs2086788941
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile) rs1215175886
NM_000051.4(ATM):c.8191G>C (p.Val2731Leu)
NM_000051.4(ATM):c.8192T>A (p.Val2731Asp)
NM_000051.4(ATM):c.8192T>C (p.Val2731Ala) rs2086789387
NM_000051.4(ATM):c.8192T>G (p.Val2731Gly) rs2086789387
NM_000051.4(ATM):c.8192_8194delinsCC (p.Val2731fs) rs2086789644
NM_000051.4(ATM):c.8193C>A (p.Val2731=) rs1060504307
NM_000051.4(ATM):c.8194T>A (p.Phe2732Ile) rs876659619
NM_000051.4(ATM):c.8194T>C (p.Phe2732Leu) rs876659619
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.4(ATM):c.8195T>C (p.Phe2732Ser) rs2086790430
NM_000051.4(ATM):c.8198A>C (p.Gln2733Pro)
NM_000051.4(ATM):c.8198A>G (p.Gln2733Arg) rs1591198624
NM_000051.4(ATM):c.8199G>C (p.Gln2733His) rs770552705
NM_000051.4(ATM):c.8201T>C (p.Met2734Thr) rs2136695452
NM_000051.4(ATM):c.8202G>A (p.Met2734Ile) rs2086792007
NM_000051.4(ATM):c.8204G>T (p.Cys2735Phe)
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs) rs1555128432
NM_000051.4(ATM):c.8205T>C (p.Cys2735=) rs2136696071
NM_000051.4(ATM):c.8206A>G (p.Asn2736Asp) rs1060501577
NM_000051.4(ATM):c.8206A>T (p.Asn2736Tyr) rs1060501577
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs) rs587782525
NM_000051.4(ATM):c.8207_8211del (p.Asn2736fs) rs2136696317
NM_000051.4(ATM):c.8207del (p.Asn2736fs) rs587782525
NM_000051.4(ATM):c.8208T>C (p.Asn2736=) rs1057523318
NM_000051.4(ATM):c.8210C>G (p.Thr2737Arg) rs2086793204
NM_000051.4(ATM):c.8210C>T (p.Thr2737Ile) rs2086793204
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.8213_8249dup (p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer) rs2086793763
NM_000051.4(ATM):c.8214A>C (p.Leu2738Phe) rs2136696989
NM_000051.4(ATM):c.8215C>T (p.Leu2739=) rs1060504311
NM_000051.4(ATM):c.8217G>T (p.Leu2739=) rs759069006
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter) rs866402530
NM_000051.4(ATM):c.8220G>A (p.Gln2740=) rs1060504313
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs) rs1162534390
NM_000051.4(ATM):c.8226C>T (p.Asn2742=) rs2136697809
NM_000051.4(ATM):c.8227_8228del (p.Thr2743fs) rs2086795898
NM_000051.4(ATM):c.8230G>A (p.Glu2744Lys)
NM_000051.4(ATM):c.8231A>G (p.Glu2744Gly)
NM_000051.4(ATM):c.8234C>T (p.Thr2745Ile) rs786203094
NM_000051.4(ATM):c.8235T>C (p.Thr2745=) rs2136698319
NM_000051.4(ATM):c.8236A>G (p.Arg2746Gly) rs2136698373
NM_000051.4(ATM):c.8238del (p.Lys2747fs)
NM_000051.4(ATM):c.8239A>T (p.Lys2747Ter) rs2136698578
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg) rs1038749014
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8243G>A (p.Arg2748Lys) rs75305387
NM_000051.4(ATM):c.8244G>A (p.Arg2748=) rs1591199166
NM_000051.4(ATM):c.8247del (p.Lys2749fs) rs2136698948
NM_000051.4(ATM):c.8248T>A (p.Leu2750Ile) rs876658559
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8249T>C (p.Leu2750Ser)
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer) rs1565543844
NM_000051.4(ATM):c.8249dup (p.Leu2750fs) rs1565543844
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala) rs2086799919
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser) rs2086800136
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
NM_000051.4(ATM):c.8254A>C (p.Ile2752Leu)
NM_000051.4(ATM):c.8254A>T (p.Ile2752Phe)
NM_000051.4(ATM):c.8256C>G (p.Ile2752Met) rs1555128574
NM_000051.4(ATM):c.8257T>C (p.Cys2753Arg)
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe) rs1284049490
NM_000051.4(ATM):c.8258del (p.Cys2753fs) rs2086801267
NM_000051.4(ATM):c.8259T>C (p.Cys2753=)
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala) rs587781414
NM_000051.4(ATM):c.8262T>G (p.Thr2754=) rs1057521506
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser) rs1591199410
NM_000051.4(ATM):c.8264A>G (p.Tyr2755Cys)
NM_000051.4(ATM):c.8264del (p.Tyr2755fs)
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
NM_000051.4(ATM):c.8266A>G (p.Lys2756Glu) rs371638537
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg) rs1555128635
NM_000051.4(ATM):c.8268+14C>T rs1057520231
NM_000051.4(ATM):c.8268+15T>A rs1555128691
NM_000051.4(ATM):c.8268+15T>G rs1555128691
NM_000051.4(ATM):c.8268+17_8268+18del
NM_000051.4(ATM):c.8268+19G>T rs1415660878
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>C rs876658957
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+2T>C rs1565544020
NM_000051.4(ATM):c.8268+4A>G rs2086804691
NM_000051.4(ATM):c.8268+5C>T rs1565544035
NM_000051.4(ATM):c.8268+7A>G rs1057524565
NM_000051.4(ATM):c.8268+7A>T rs1057524565
NM_000051.4(ATM):c.8268+8T>A rs1263247290
NM_000051.4(ATM):c.8268+8T>G
NM_000051.4(ATM):c.8268+9T>C rs2136701769
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.8269-10G>A
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8269-12C>G
NM_000051.4(ATM):c.8269-12C>T
NM_000051.4(ATM):c.8269-13del rs2136938446
NM_000051.4(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.4(ATM):c.8269-19del
NM_000051.4(ATM):c.8269-1G>A
NM_000051.4(ATM):c.8269-1G>C rs1565557607
NM_000051.4(ATM):c.8269-20T>C
NM_000051.4(ATM):c.8269-2A>T rs2136939497
NM_000051.4(ATM):c.8269-5T>G rs1555135331
NM_000051.4(ATM):c.8269-6C>T rs1284643640
NM_000051.4(ATM):c.8269-6dup
NM_000051.4(ATM):c.8269-7A>G rs2087803205
NM_000051.4(ATM):c.8269-9T>C rs2136938827
NM_000051.4(ATM):c.8269G>C (p.Val2757Leu) rs761625350
NM_000051.4(ATM):c.8269G>T (p.Val2757Leu) rs761625350
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly) rs201216427
NM_000051.4(ATM):c.8272G>T (p.Val2758Phe) rs1555135373
NM_000051.4(ATM):c.8275C>G (p.Pro2759Ala) rs764906663
NM_000051.4(ATM):c.8276C>A (p.Pro2759His) rs2087807752
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu) rs2087807752
NM_000051.4(ATM):c.8277C>T (p.Pro2759=) rs878853548
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe) rs758609900
NM_000051.4(ATM):c.8278del (p.Leu2760fs) rs1486627670
NM_000051.4(ATM):c.8279T>C (p.Leu2760Pro) rs1060501578
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8283T>G (p.Ser2761=) rs1591247541
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8284C>G (p.Gln2762Glu) rs751574257
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter) rs751574257
NM_000051.4(ATM):c.8287C>G (p.Arg2763Gly) rs876659872
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8287del (p.Arg2763fs)
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.8289A>G (p.Arg2763=) rs2136941755
NM_000051.4(ATM):c.8291G>C (p.Ser2764Thr)
NM_000051.4(ATM):c.8291GTG[1] (p.Gly2765del) rs1565557806
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.8293G>T (p.Gly2765Cys) rs748634900
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.4(ATM):c.8294G>C (p.Gly2765Ala)
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val) rs1565557835
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.4(ATM):c.8297T>G (p.Val2766Gly) rs1064796249
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.4(ATM):c.8300T>A (p.Leu2767His)
NM_000051.4(ATM):c.8300T>C (p.Leu2767Pro) rs1591247825
NM_000051.4(ATM):c.8300T>G (p.Leu2767Arg) rs1591247825
NM_000051.4(ATM):c.8301T>C (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8301T>G (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8301_8344dup (p.Asn2782fs)
NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter) rs1555135513
NM_000051.4(ATM):c.8303A>T (p.Glu2768Val) rs2136943134
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)
NM_000051.4(ATM):c.8305T>C (p.Trp2769Arg) rs1591247945
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs) rs786202318
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
NM_000051.4(ATM):c.8307G>C (p.Trp2769Cys)
NM_000051.4(ATM):c.8307G>T (p.Trp2769Cys) rs778269655
NM_000051.4(ATM):c.8308T>A (p.Cys2770Ser)
NM_000051.4(ATM):c.8308T>G (p.Cys2770Gly) rs749737164
NM_000051.4(ATM):c.8309G>T (p.Cys2770Phe) rs2087816795
NM_000051.4(ATM):c.8310C>G (p.Cys2770Trp) rs1555135544
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala) rs876660587
NM_000051.4(ATM):c.8312C>G (p.Thr2771Arg)
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile) rs771781881
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8313A>G (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8314_8316del (p.Gly2772del) rs2087818644
NM_000051.4(ATM):c.8315G>A (p.Gly2772Glu) rs775293524
NM_000051.4(ATM):c.8315G>C (p.Gly2772Ala) rs775293524
NM_000051.4(ATM):c.8318C>A (p.Thr2773Asn) rs786203321
NM_000051.4(ATM):c.8318C>T (p.Thr2773Ile) rs786203321
NM_000051.4(ATM):c.8319T>C (p.Thr2773=) rs1591248170
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs) rs1555135596
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu) rs2087821053
NM_000051.4(ATM):c.8321T>C (p.Val2774Ala) rs776988084
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs) rs1060501630
NM_000051.4(ATM):c.8322C>A (p.Val2774=) rs1060504267
NM_000051.4(ATM):c.8322C>T (p.Val2774=)
NM_000051.4(ATM):c.8323C>T (p.Pro2775Ser) rs2087822375
NM_000051.4(ATM):c.8324C>G (p.Pro2775Arg)
NM_000051.4(ATM):c.8324C>T (p.Pro2775Leu) rs1591248275
NM_000051.4(ATM):c.8325C>A (p.Pro2775=)
NM_000051.4(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.4(ATM):c.8327T>A (p.Ile2776Asn) rs746475628
NM_000051.4(ATM):c.8327T>G (p.Ile2776Ser) rs746475628
NM_000051.4(ATM):c.8328T>G (p.Ile2776Met)
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser) rs2087823795
NM_000051.4(ATM):c.8329G>C (p.Gly2777Arg)
NM_000051.4(ATM):c.8330G>A (p.Gly2777Asp) rs879254240
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.4(ATM):c.8332G>A (p.Glu2778Lys)
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.4(ATM):c.8333A>T (p.Glu2778Val)
NM_000051.4(ATM):c.8339T>A (p.Leu2780His)
NM_000051.4(ATM):c.8339T>C (p.Leu2780Pro) rs2087825562
NM_000051.4(ATM):c.8341_8343del (p.Val2781del) rs1178661659
NM_000051.4(ATM):c.8342T>C (p.Val2781Ala)
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
NM_000051.4(ATM):c.8344A>G (p.Asn2782Asp) rs2136947170
NM_000051.4(ATM):c.8345A>G (p.Asn2782Ser) rs2136947221
NM_000051.4(ATM):c.8346C>T (p.Asn2782=) rs999357615
NM_000051.4(ATM):c.8348A>G (p.Asn2783Ser) rs2087826921
NM_000051.4(ATM):c.8350G>A (p.Glu2784Lys) rs1479612629
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
NM_000051.4(ATM):c.8354A>G (p.Asp2785Gly) rs1591248589
NM_000051.4(ATM):c.8354A>T (p.Asp2785Val) rs1591248589
NM_000051.4(ATM):c.8356G>A (p.Gly2786Ser) rs1167044647
NM_000051.4(ATM):c.8356G>T (p.Gly2786Cys) rs1167044647
NM_000051.4(ATM):c.8357del (p.Gly2786fs) rs2136948126
NM_000051.4(ATM):c.8359G>A (p.Ala2787Thr) rs1591248677
NM_000051.4(ATM):c.8359G>C (p.Ala2787Pro)
NM_000051.4(ATM):c.8360C>G (p.Ala2787Gly) rs879253877
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8362C>A (p.His2788Asn)
NM_000051.4(ATM):c.8363A>C (p.His2788Pro) rs1555135716
NM_000051.4(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.4(ATM):c.8364T>G (p.His2788Gln) rs1591248749
NM_000051.4(ATM):c.8366A>G (p.Lys2789Arg) rs1591248788
NM_000051.4(ATM):c.8367A>G (p.Lys2789=) rs1393366622
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs) rs786202418
NM_000051.4(ATM):c.8368del (p.Arg2790fs) rs2136948975
NM_000051.4(ATM):c.8371T>A (p.Tyr2791Asn) rs1020805015
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8372A>G (p.Tyr2791Cys) rs534914490
NM_000051.4(ATM):c.8372dup (p.Tyr2791Ter)
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=) rs1060504292
NM_000051.4(ATM):c.8373del (p.Arg2790_Tyr2791insTer) rs2136949935
NM_000051.4(ATM):c.8377C>A (p.Pro2793Thr) rs1174335574
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.8379A>G (p.Pro2793=)
NM_000051.4(ATM):c.8380A>G (p.Asn2794Asp)
NM_000051.4(ATM):c.8382T>A (p.Asn2794Lys) rs1555135797
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
NM_000051.4(ATM):c.8383G>A (p.Asp2795Asn) rs1565558417
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.4(ATM):c.8384A>C (p.Asp2795Ala) rs2087834639
NM_000051.4(ATM):c.8386T>C (p.Phe2796Leu) rs1591249094
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.8392G>T (p.Ala2798Ser) rs1591249178
NM_000051.4(ATM):c.8392_8393delinsTT (p.Ala2798Phe) rs2087837804
NM_000051.4(ATM):c.8394C>T (p.Ala2798=) rs2136951901
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.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys) rs2136952226
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter) rs2136952289
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro) rs879254273
NM_000051.4(ATM):c.8400G>A (p.Gln2800=)
NM_000051.4(ATM):c.8402G>T (p.Cys2801Phe) rs2136952675
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter) rs1555135852
NM_000051.4(ATM):c.8403C>T (p.Cys2801=) rs1555135852
NM_000051.4(ATM):c.8406A>G (p.Gln2802=) rs2136952999
NM_000051.4(ATM):c.8410A>C (p.Lys2804Gln) rs878853549
NM_000051.4(ATM):c.8410A>G (p.Lys2804Glu)
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
NM_000051.4(ATM):c.8413dup (p.Met2805fs) rs2136953216
NM_000051.4(ATM):c.8414del (p.Met2805fs) rs2087842345
NM_000051.4(ATM):c.8415G>C (p.Met2805Ile)
NM_000051.4(ATM):c.8416_8418+5del rs1591249480
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.4(ATM):c.8418+11C>G
NM_000051.4(ATM):c.8418+12C>A
NM_000051.4(ATM):c.8418+12C>T
NM_000051.4(ATM):c.8418+13C>G
NM_000051.4(ATM):c.8418+14A>C rs1555135939
NM_000051.4(ATM):c.8418+15A>C rs1565558731
NM_000051.4(ATM):c.8418+15A>G
NM_000051.4(ATM):c.8418+17A>G rs2136955270
NM_000051.4(ATM):c.8418+18T>C
NM_000051.4(ATM):c.8418+1G>A rs766533795
NM_000051.4(ATM):c.8418+1_8418+3del rs2136953867
NM_000051.4(ATM):c.8418+2T>C rs1060501713
NM_000051.4(ATM):c.8418+4A>C
NM_000051.4(ATM):c.8418+5G>A rs1305740166
NM_000051.4(ATM):c.8418+5G>T rs1305740166
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8418+681A>C
NM_000051.4(ATM):c.8418+681A>G
NM_000051.4(ATM):c.8418+6T>C rs1555135928
NM_000051.4(ATM):c.8418+704G>T
NM_000051.4(ATM):c.8418+7G>A rs2136954579
NM_000051.4(ATM):c.8418+7G>T
NM_000051.4(ATM):c.8418+8A>G rs1591249687
NM_000051.4(ATM):c.8418+8A>T rs1591249687
NM_000051.4(ATM):c.8418+9C>T
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8419-10C>G rs2137022388
NM_000051.4(ATM):c.8419-11T>C
NM_000051.4(ATM):c.8419-11T>G
NM_000051.4(ATM):c.8419-14T>A
NM_000051.4(ATM):c.8419-14T>C rs1441150092
NM_000051.4(ATM):c.8419-15A>T
NM_000051.4(ATM):c.8419-16T>C rs2137021914
NM_000051.4(ATM):c.8419-17A>G rs1057520452
NM_000051.4(ATM):c.8419-18T>C rs2088256725
NM_000051.4(ATM):c.8419-20T>C
NM_000051.4(ATM):c.8419-22TA[2] rs1257766623
NM_000051.4(ATM):c.8419-2A>C rs1555137917
NM_000051.4(ATM):c.8419-2A>G rs1555137917
NM_000051.4(ATM):c.8419-4A>G
NM_000051.4(ATM):c.8419-6T>G
NM_000051.4(ATM):c.8419-7T>C rs1591263768
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.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.4(ATM):c.8421G>T (p.Glu2807Asp)
NM_000051.4(ATM):c.8422G>A (p.Val2808Met) rs876660616
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala) rs1359195708
NM_000051.4(ATM):c.8423dup (p.Gln2809fs)
NM_000051.4(ATM):c.8424G>T (p.Val2808=) rs786203870
NM_000051.4(ATM):c.8425C>G (p.Gln2809Glu) rs1555137973
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8428A>G (p.Lys2810Glu) rs730881325
NM_000051.4(ATM):c.8429A>C (p.Lys2810Thr) rs1555137999
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del) rs587782558
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8431_8432delinsT (p.Lys2811fs)
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.4(ATM):c.8433G>A (p.Lys2811=)
NM_000051.4(ATM):c.8434T>A (p.Ser2812Thr)
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro) rs786202372
NM_000051.4(ATM):c.8434T>G (p.Ser2812Ala) rs786202372
NM_000051.4(ATM):c.8435C>A (p.Ser2812Tyr) rs1565563280
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.4(ATM):c.8435_8437del (p.Ser2812del) rs1591264086
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer) rs991405942
NM_000051.4(ATM):c.8438_8449del (p.Phe2813_Lys2816del) rs2137025439
NM_000051.4(ATM):c.8439del (p.Phe2813fs) rs991405942
NM_000051.4(ATM):c.8440G>A (p.Glu2814Lys) rs2137025722
NM_000051.4(ATM):c.8440G>C (p.Glu2814Gln)
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
NM_000051.4(ATM):c.8440del (p.Glu2814fs) rs752526400
NM_000051.4(ATM):c.8443G>A (p.Glu2815Lys) rs1214616015
NM_000051.4(ATM):c.8445G>A (p.Glu2815=) rs2137026158
NM_000051.4(ATM):c.8446A>C (p.Lys2816Gln) rs1555138041
NM_000051.4(ATM):c.8448A>G (p.Lys2816=) rs1555138048
NM_000051.4(ATM):c.8449T>G (p.Tyr2817Asp)
NM_000051.4(ATM):c.8451T>A (p.Tyr2817Ter) rs2137026687
NM_000051.4(ATM):c.8451T>C (p.Tyr2817=)
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter) rs2137026687
NM_000051.4(ATM):c.8454A>G (p.Glu2818=) rs2137026950
NM_000051.4(ATM):c.8456T>C (p.Val2819Ala)
NM_000051.4(ATM):c.8456T>G (p.Val2819Gly) rs1565563392
NM_000051.4(ATM):c.8457C>A (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8457C>G (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8460C>A (p.Phe2820Leu) rs2137027437
NM_000051.4(ATM):c.8461del (p.Met2821fs)
NM_000051.4(ATM):c.8462T>C (p.Met2821Thr) rs1555138065
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg) rs1555138065
NM_000051.4(ATM):c.8464G>A (p.Asp2822Asn) rs2088274235
NM_000051.4(ATM):c.8464_8467del (p.Asp2822fs) rs2137027657
NM_000051.4(ATM):c.8466T>A (p.Asp2822Glu) rs1057523224
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
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.8471G>C (p.Cys2824Ser) rs876660927
NM_000051.4(ATM):c.8472C>T (p.Cys2824=) rs1555138090
NM_000051.4(ATM):c.8473C>G (p.Gln2825Glu) rs587781363
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.8475A>G (p.Gln2825=) rs769656947
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser) rs1591264493
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
NM_000051.4(ATM):c.8478T>C (p.Asn2826=) rs1315026465
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.8481del (p.Gln2828fs) rs2088278756
NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu) rs1555138125
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter) rs1555138125
NM_000051.4(ATM):c.8484A>G (p.Gln2828=)
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.4(ATM):c.8485C>T (p.Pro2829Ser) rs2137030040
NM_000051.4(ATM):c.8490T>C (p.Val2830=) rs773149592
NM_000051.4(ATM):c.8491T>G (p.Phe2831Val)
NM_000051.4(ATM):c.8492T>C (p.Phe2831Ser) rs1591264665
NM_000051.4(ATM):c.8494C>G (p.Arg2832Gly) rs587779872
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8495_8505del (p.Arg2832fs)
NM_000051.4(ATM):c.8497del (p.Tyr2833fs)
NM_000051.4(ATM):c.8499C>G (p.Tyr2833Ter) rs2137031313
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)
NM_000051.4(ATM):c.8500T>A (p.Phe2834Ile) rs1591264768
NM_000051.4(ATM):c.8502C>T (p.Phe2834=) rs1555138167
NM_000051.4(ATM):c.8504G>A (p.Cys2835Tyr) rs759655842
NM_000051.4(ATM):c.8504dup (p.Cys2835fs) rs2137031805
NM_000051.4(ATM):c.8505C>T (p.Cys2835=)
NM_000051.4(ATM):c.8506A>G (p.Met2836Val) rs879253968
NM_000051.4(ATM):c.8507T>C (p.Met2836Thr) rs1591264886
NM_000051.4(ATM):c.8508G>A (p.Met2836Ile)
NM_000051.4(ATM):c.8510A>G (p.Glu2837Gly)
NM_000051.4(ATM):c.8512A>C (p.Lys2838Gln) rs2088287574
NM_000051.4(ATM):c.8512A>G (p.Lys2838Glu)
NM_000051.4(ATM):c.8513A>G (p.Lys2838Arg) rs2088287946
NM_000051.4(ATM):c.8514A>G (p.Lys2838=) rs1591264927
NM_000051.4(ATM):c.8515T>A (p.Phe2839Ile) rs876658958
NM_000051.4(ATM):c.8516dup (p.Asp2841fs) rs2137032635
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu) rs767845728
NM_000051.4(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.4(ATM):c.8519T>C (p.Leu2840Ser) rs947497737
NM_000051.4(ATM):c.8521G>A (p.Asp2841Asn) rs786203013
NM_000051.4(ATM):c.8521G>T (p.Asp2841Tyr) rs786203013
NM_000051.4(ATM):c.8522A>T (p.Asp2841Val)
NM_000051.4(ATM):c.8523T>G (p.Asp2841Glu)
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.4(ATM):c.8525C>T (p.Pro2842Leu) rs879254065
NM_000051.4(ATM):c.8526A>G (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8526A>T (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8527G>T (p.Ala2843Ser) rs2137033579
NM_000051.4(ATM):c.8528C>T (p.Ala2843Val) rs1060501637
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle) rs1555138275
NM_000051.4(ATM):c.8531T>C (p.Ile2844Thr)
NM_000051.4(ATM):c.8531T>G (p.Ile2844Ser) rs1591265172
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
NM_000051.4(ATM):c.8533T>C (p.Trp2845Arg) rs2137034127
NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu) rs2137034202
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8536T>A (p.Phe2846Ile) rs1591265229
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu) rs1591265229
NM_000051.4(ATM):c.8541G>A (p.Glu2847=)
NM_000051.4(ATM):c.8542A>G (p.Lys2848Glu) rs1565563932
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)
NM_000051.4(ATM):c.8545C>A (p.Arg2849=) rs587778080
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.4(ATM):c.8548T>C (p.Leu2850=) rs1555138320
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.4(ATM):c.8550G>A (p.Leu2850=) rs1591265370
NM_000051.4(ATM):c.8550G>T (p.Leu2850Phe) rs1591265370
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs) rs2088299549
NM_000051.4(ATM):c.8553T>C (p.Ala2851=) rs2137035844
NM_000051.4(ATM):c.8554T>A (p.Tyr2852Asn)
NM_000051.4(ATM):c.8554T>C (p.Tyr2852His) rs1064794108
NM_000051.4(ATM):c.8554T>G (p.Tyr2852Asp)
NM_000051.4(ATM):c.8555A>G (p.Tyr2852Cys)
NM_000051.4(ATM):c.8556T>A (p.Tyr2852Ter) rs779394254
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter) rs779394254
NM_000051.4(ATM):c.8558C>A (p.Thr2853Lys) rs141534716
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.4(ATM):c.8558_8559insAAA (p.Thr2853_Arg2854insLys) rs2088301952
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8559G>C (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.4(ATM):c.8561G>C (p.Arg2854Pro) rs1060501605
NM_000051.4(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.4(ATM):c.8564G>A (p.Ser2855Asn) rs2088303841
NM_000051.4(ATM):c.8564G>T (p.Ser2855Ile) rs2088303841
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565T>C (p.Ser2855=) rs780905851
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.8567T>C (p.Val2856Ala)
NM_000051.4(ATM):c.8568A>G (p.Val2856=) rs2137037514
NM_000051.4(ATM):c.8568A>T (p.Val2856=)
NM_000051.4(ATM):c.8569G>A (p.Ala2857Thr) rs1591265701
NM_000051.4(ATM):c.8570C>G (p.Ala2857Gly) rs2137037690
NM_000051.4(ATM):c.8571T>C (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8571T>G (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8573_8574insGAA (p.Thr2858_Ser2859insAsn) rs2088307936
NM_000051.4(ATM):c.8575T>A (p.Ser2859Thr) rs2088308600
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.8578_8579delinsAT (p.Ser2860Ile)
NM_000051.4(ATM):c.8578_8584+17del
NM_000051.4(ATM):c.8579C>G (p.Ser2860Cys) rs1158350157
NM_000051.4(ATM):c.8580T>C (p.Ser2860=) rs1591265841
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000051.4(ATM):c.8583T>G (p.Ile2861Met) rs2137038817
NM_000051.4(ATM):c.8584+11dup
NM_000051.4(ATM):c.8584+12G>A
NM_000051.4(ATM):c.8584+12G>C rs2137039977
NM_000051.4(ATM):c.8584+12del rs2137040055
NM_000051.4(ATM):c.8584+13T>G
NM_000051.4(ATM):c.8584+14A>G
NM_000051.4(ATM):c.8584+15C>G
NM_000051.4(ATM):c.8584+15_8584+20del rs2137040215
NM_000051.4(ATM):c.8584+15dup rs2137040530
NM_000051.4(ATM):c.8584+16A>C rs1322889530
NM_000051.4(ATM):c.8584+16A>G rs1322889530
NM_000051.4(ATM):c.8584+17T>C
NM_000051.4(ATM):c.8584+18A>G rs2137040788
NM_000051.4(ATM):c.8584+19del rs2137040977
NM_000051.4(ATM):c.8584+1G>A rs876658182
NM_000051.4(ATM):c.8584+20_8584+36del
NM_000051.4(ATM):c.8584+2T>A
NM_000051.4(ATM):c.8584+3A>G
NM_000051.4(ATM):c.8584+4A>G rs1555138484
NM_000051.4(ATM):c.8584+5T>A
NM_000051.4(ATM):c.8584+7T>C rs1374271708
NM_000051.4(ATM):c.8584+7T>G rs1374271708
NM_000051.4(ATM):c.8584+9_8584+11del rs1064794534
NM_000051.4(ATM):c.8584+9del rs1565564405
NM_000051.4(ATM):c.8584G>A (p.Val2862Ile)
NM_000051.4(ATM):c.8585-11T>C
NM_000051.4(ATM):c.8585-11T>G rs752428743
NM_000051.4(ATM):c.8585-12T>C
NM_000051.4(ATM):c.8585-13C>G
NM_000051.4(ATM):c.8585-14T>A
NM_000051.4(ATM):c.8585-14T>G
NM_000051.4(ATM):c.8585-16T>A rs2137076895
NM_000051.4(ATM):c.8585-17G>A
NM_000051.4(ATM):c.8585-17G>C
NM_000051.4(ATM):c.8585-17_8585-14del rs764013510
NM_000051.4(ATM):c.8585-18T>C
NM_000051.4(ATM):c.8585-19T>C rs2137076742
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8585-3C>A
NM_000051.4(ATM):c.8585-4C>G rs1555139447
NM_000051.4(ATM):c.8585-4C>T rs1555139447
NM_000051.4(ATM):c.8585-5T>G
NM_000051.4(ATM):c.8585-6C>T rs2137077591
NM_000051.4(ATM):c.8585-7T>C
NM_000051.4(ATM):c.8585-8T>C rs2137077459
NM_000051.4(ATM):c.8585-9T>C rs2137077383
NM_000051.4(ATM):c.8586del (p.Gly2863fs) rs1555139467
NM_000051.4(ATM):c.8588G>T (p.Gly2863Val) rs786201911
NM_000051.4(ATM):c.8589T>A (p.Gly2863=)
NM_000051.4(ATM):c.8589T>C (p.Gly2863=) rs1409265866
NM_000051.4(ATM):c.8592C>A (p.Tyr2864Ter)
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.8594T>G (p.Ile2865Arg) rs587779873
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe) rs368666328
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro) rs1555139517
NM_000051.4(ATM):c.8598T>C (p.Leu2866=)
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
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.8602C>A (p.Leu2868Ile) rs587780642
NM_000051.4(ATM):c.8602C>G (p.Leu2868Val) rs587780642
NM_000051.4(ATM):c.8604T>G (p.Leu2868=) rs2088545756
NM_000051.4(ATM):c.8605G>A (p.Gly2869Ser) rs748855312
NM_000051.4(ATM):c.8605G>T (p.Gly2869Cys)
NM_000051.4(ATM):c.8606G>A (p.Gly2869Asp) rs1555139531
NM_000051.4(ATM):c.8606G>C (p.Gly2869Ala) rs1555139531
NM_000051.4(ATM):c.8607T>G (p.Gly2869=)
NM_000051.4(ATM):c.8608G>A (p.Asp2870Asn) rs55798854
NM_000051.4(ATM):c.8608G>C (p.Asp2870His)
NM_000051.4(ATM):c.8608G>T (p.Asp2870Tyr) rs55798854
NM_000051.4(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer) rs1591273850
NM_000051.4(ATM):c.8609A>G (p.Asp2870Gly) rs1555139540
NM_000051.4(ATM):c.8610T>C (p.Asp2870=) rs1370524851
NM_000051.4(ATM):c.8610_8613dup (p.His2872Ter)
NM_000051.4(ATM):c.8611A>G (p.Arg2871Gly) rs2088548689
NM_000051.4(ATM):c.8612G>C (p.Arg2871Thr) rs1555139547
NM_000051.4(ATM):c.8614C>G (p.His2872Asp) rs2088549387
NM_000051.4(ATM):c.8614C>T (p.His2872Tyr) rs2088549387
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8615A>T (p.His2872Leu) rs1591273938
NM_000051.4(ATM):c.8616T>A (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8616T>C (p.His2872=)
NM_000051.4(ATM):c.8616T>G (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8618T>C (p.Val2873Ala) rs1591274020
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter) rs2088551822
NM_000051.4(ATM):c.8621A>C (p.Gln2874Pro) rs1565567144
NM_000051.4(ATM):c.8621A>G (p.Gln2874Arg) rs1565567144
NM_000051.4(ATM):c.8623A>G (p.Asn2875Asp)
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser) rs587782451
NM_000051.4(ATM):c.8625_8627delinsAAAA (p.Asn2875fs) rs1565567205
NM_000051.4(ATM):c.8627T>C (p.Ile2876Thr) rs2137081967
NM_000051.4(ATM):c.8628C>A (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8628C>G (p.Ile2876Met) rs1555139577
NM_000051.4(ATM):c.8628C>T (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.4(ATM):c.8632A>C (p.Ile2878Leu) rs1591274185
NM_000051.4(ATM):c.8633T>C (p.Ile2878Thr) rs972293256
NM_000051.4(ATM):c.8634A>G (p.Ile2878Met) rs2088556289
NM_000051.4(ATM):c.8636A>G (p.Asn2879Ser) rs1565567277
NM_000051.4(ATM):c.8636dup (p.Asn2879fs) rs2137082728
NM_000051.4(ATM):c.8637T>C (p.Asn2879=)
NM_000051.4(ATM):c.8638G>A (p.Glu2880Lys) rs771930635
NM_000051.4(ATM):c.8639A>G (p.Glu2880Gly)
NM_000051.4(ATM):c.8639A>T (p.Glu2880Val)
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter) rs1057520672
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.4(ATM):c.8643G>T (p.Gln2881His) rs1591274305
NM_000051.4(ATM):c.8644T>C (p.Ser2882Pro)
NM_000051.4(ATM):c.8652A>C (p.Glu2884Asp)
NM_000051.4(ATM):c.8653C>T (p.Leu2885Phe) rs775185939
NM_000051.4(ATM):c.8654T>A (p.Leu2885His) rs2088560069
NM_000051.4(ATM):c.8655T>C (p.Leu2885=) rs1555139640
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8656G>C (p.Val2886Leu)
NM_000051.4(ATM):c.8658A>C (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8658A>T (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000051.4(ATM):c.8659C>T (p.His2887Tyr) rs1591274530
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8660A>G (p.His2887Arg) rs864622173
NM_000051.4(ATM):c.8661T>C (p.His2887=)
NM_000051.4(ATM):c.8662A>C (p.Ile2888Leu)
NM_000051.4(ATM):c.8662A>T (p.Ile2888Leu) rs2088562912
NM_000051.4(ATM):c.8663T>A (p.Ile2888Lys)
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr) rs760955058
NM_000051.4(ATM):c.8663T>G (p.Ile2888Arg) rs760955058
NM_000051.4(ATM):c.8663del (p.Ile2888fs) rs2137085814
NM_000051.4(ATM):c.8664A>G (p.Ile2888Met) rs769052707
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.4(ATM):c.8665G>C (p.Asp2889His) rs587781814
NM_000051.4(ATM):c.8665G>T (p.Asp2889Tyr) rs587781814
NM_000051.4(ATM):c.8667T>A (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8667T>G (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8668C>A (p.Leu2890Ile) rs587779874
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val) rs587779874
NM_000051.4(ATM):c.8668C>T (p.Leu2890=) rs587779874
NM_000051.4(ATM):c.8668_8671+9del rs2088564736
NM_000051.4(ATM):c.8669T>C (p.Leu2890Pro) rs2088565976
NM_000051.4(ATM):c.8669T>G (p.Leu2890Arg)
NM_000051.4(ATM):c.8671+13A>G
NM_000051.4(ATM):c.8671+15C>G rs1438943849
NM_000051.4(ATM):c.8671+19G>A
NM_000051.4(ATM):c.8671+19G>T rs1308810219
NM_000051.4(ATM):c.8671+1G>A
NM_000051.4(ATM):c.8671+1G>T rs1555139694
NM_000051.4(ATM):c.8671+20T>C rs1057521774
NM_000051.4(ATM):c.8671+2T>C rs1057516229
NM_000051.4(ATM):c.8671+2dup rs1555139698
NM_000051.4(ATM):c.8671+4A>C rs876660652
NM_000051.4(ATM):c.8671+5G>A
NM_000051.4(ATM):c.8671+6T>C rs2088568547
NM_000051.4(ATM):c.8671+6T>G rs2088568547
NM_000051.4(ATM):c.8671+9T>C rs200190537
NM_000051.4(ATM):c.8671G>A (p.Gly2891Ser) rs1565567541
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg) rs1565567541
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys) rs1565567541
NM_000051.4(ATM):c.8672-11C>A
NM_000051.4(ATM):c.8672-11C>G rs2089488144
NM_000051.4(ATM):c.8672-11_8672-5delinsAA rs2089488486
NM_000051.4(ATM):c.8672-11_8672-9del
NM_000051.4(ATM):c.8672-13T>G rs730881280
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8672-20C>A
NM_000051.4(ATM):c.8672-3T>G rs1060501550
NM_000051.4(ATM):c.8672-5T>C rs1591306315
NM_000051.4(ATM):c.8672-5T>G rs1591306315
NM_000051.4(ATM):c.8672-6C>A rs1555142794
NM_000051.4(ATM):c.8672-6C>T
NM_000051.4(ATM):c.8672-6_8672-2del rs2089488857
NM_000051.4(ATM):c.8672-7A>G rs2137284033
NM_000051.4(ATM):c.8672-7A>T
NM_000051.4(ATM):c.8672-8T>C
NM_000051.4(ATM):c.8672-9T>C rs2137283941
NM_000051.4(ATM):c.8672G>C (p.Gly2891Ala)
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.4(ATM):c.8672del rs779170307
NM_000051.4(ATM):c.8675T>C (p.Val2892Ala) rs1591306442
NM_000051.4(ATM):c.8676del (p.Ala2893fs)
NM_000051.4(ATM):c.8676dup (p.Ala2893fs) rs2089492486
NM_000051.4(ATM):c.8677G>A (p.Ala2893Thr) rs1555142808
NM_000051.4(ATM):c.8677G>C (p.Ala2893Pro) rs1555142808
NM_000051.4(ATM):c.8677_8685del (p.Ala2893_Glu2895del) rs2137285531
NM_000051.4(ATM):c.8678C>A (p.Ala2893Asp) rs2089493277
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter) rs1565579084
NM_000051.4(ATM):c.8683G>C (p.Glu2895Gln) rs769951912
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter) rs2137286457
NM_000051.4(ATM):c.8686_8694del (p.Gln2896_Lys2898del) rs1060501671
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro) rs2089494486
NM_000051.4(ATM):c.8687A>G (p.Gln2896Arg) rs2089494486
NM_000051.4(ATM):c.8689G>A (p.Gly2897Ser) rs2089494758
NM_000051.4(ATM):c.8689G>T (p.Gly2897Cys) rs2089494758
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp) rs1591306536
NM_000051.4(ATM):c.8690del (p.Gly2897fs) rs2137286889
NM_000051.4(ATM):c.8691C>A (p.Gly2897=) rs1555142814
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu) rs2137287369
NM_000051.4(ATM):c.8695A>C (p.Ile2899Leu) rs1591306598
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8697C>G (p.Ile2899Met) rs1333079704
NM_000051.4(ATM):c.8698C>A (p.Leu2900Ile) rs2089496713
NM_000051.4(ATM):c.8700T>C (p.Leu2900=) rs2137288094
NM_000051.4(ATM):c.8700dup (p.Pro2901fs)
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala) rs2137288475
NM_000051.4(ATM):c.8705C>A (p.Thr2902Asn)
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile) rs1591306636
NM_000051.4(ATM):c.8706T>C (p.Thr2902=) rs1555142824
NM_000051.4(ATM):c.8707C>T (p.Pro2903Ser) rs1591306666
NM_000051.4(ATM):c.8707_8709del (p.Pro2903del)
NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu) rs2089498194
NM_000051.4(ATM):c.8710G>A (p.Glu2904Lys)
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln) rs1591306697
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8712G>A (p.Glu2904=) rs1349488841
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
NM_000051.4(ATM):c.8714C>T (p.Thr2905Ile)
NM_000051.4(ATM):c.8715A>C (p.Thr2905=)
NM_000051.4(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.4(ATM):c.8717_8737del (p.Val2906_Arg2912del)
NM_000051.4(ATM):c.8718T>A (p.Val2906=) rs1591306810
NM_000051.4(ATM):c.8718dup (p.Pro2907fs)
NM_000051.4(ATM):c.8719C>A (p.Pro2907Thr)
NM_000051.4(ATM):c.8720C>A (p.Pro2907His) rs56887719
NM_000051.4(ATM):c.8720C>G (p.Pro2907Arg) rs56887719
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
NM_000051.4(ATM):c.8724del (p.Phe2908fs)
NM_000051.4(ATM):c.8725A>G (p.Arg2909Gly)
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8726G>A (p.Arg2909Lys) rs759905760
NM_000051.4(ATM):c.8727A>G (p.Arg2909=)
NM_000051.4(ATM):c.8728C>T (p.Leu2910Phe) rs1555142851
NM_000051.4(ATM):c.8730C>A (p.Leu2910=) rs551041839
NM_000051.4(ATM):c.8730C>T (p.Leu2910=)
NM_000051.4(ATM):c.8731A>C (p.Thr2911Pro) rs786203271
NM_000051.4(ATM):c.8731dup (p.Thr2911fs) rs2137291352
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
NM_000051.4(ATM):c.8732C>G (p.Thr2911Ser) rs794728018
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>T (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
NM_000051.4(ATM):c.8735G>C (p.Arg2912Thr) rs2089507361
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.8737_8738del (p.Asp2913fs) rs2137291785
NM_000051.4(ATM):c.8739T>C (p.Asp2913=) rs764778912
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu) rs764778912
NM_000051.4(ATM):c.8740A>T (p.Ile2914Phe)
NM_000051.4(ATM):c.8743G>A (p.Val2915Met) rs2089510680
NM_000051.4(ATM):c.8746G>A (p.Asp2916Asn) rs150874041
NM_000051.4(ATM):c.8747A>T (p.Asp2916Val) rs2137293159
NM_000051.4(ATM):c.8748T>C (p.Asp2916=) rs2137293260
NM_000051.4(ATM):c.8749G>A (p.Gly2917Ser) rs2137293373
NM_000051.4(ATM):c.8750G>A (p.Gly2917Asp)
NM_000051.4(ATM):c.8751C>G (p.Gly2917=) rs779858366
NM_000051.4(ATM):c.8754G>A (p.Met2918Ile) rs2137293810
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp) rs2137294046
NM_000051.4(ATM):c.8756G>C (p.Gly2919Ala)
NM_000051.4(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.4(ATM):c.8759T>C (p.Ile2920Thr) rs1565579485
NM_000051.4(ATM):c.8761dup (p.Thr2921fs)
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8762C>G (p.Thr2921Arg)
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8763G>T (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8764G>A (p.Gly2922Ser)
NM_000051.4(ATM):c.8765G>A (p.Gly2922Asp) rs2089517173
NM_000051.4(ATM):c.8765G>T (p.Gly2922Val) rs2089517173
NM_000051.4(ATM):c.8766T>C (p.Gly2922=) rs1166849874
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8769T>C (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.8769T>G (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.8770G>A (p.Glu2924Lys) rs2137295860
NM_000051.4(ATM):c.8772A>C (p.Glu2924Asp) rs2089519648
NM_000051.4(ATM):c.8772A>T (p.Glu2924Asp)
NM_000051.4(ATM):c.8772del (p.Gly2925fs)
NM_000051.4(ATM):c.8773G>A (p.Gly2925Ser) rs876658519
NM_000051.4(ATM):c.8773G>C (p.Gly2925Arg) rs876658519
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp) rs769959260
NM_000051.4(ATM):c.8774G>C (p.Gly2925Ala) rs769959260
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val) rs769959260
NM_000051.4(ATM):c.8776G>A (p.Val2926Ile) rs2137296380
NM_000051.4(ATM):c.8777T>C (p.Val2926Ala)
NM_000051.4(ATM):c.8777T>G (p.Val2926Gly) rs773329421
NM_000051.4(ATM):c.8779T>A (p.Phe2927Ile)
NM_000051.4(ATM):c.8779_8780del (p.Phe2927fs) rs2089522875
NM_000051.4(ATM):c.8780del (p.Phe2927fs) rs2089522517
NM_000051.4(ATM):c.8781C>T (p.Phe2927=) rs2137297059
NM_000051.4(ATM):c.8781_8786+2del rs1591307438
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.8785A>T (p.Arg2929Ter) rs1013290424
NM_000051.4(ATM):c.8786+10A>G rs1591307673
NM_000051.4(ATM):c.8786+11T>A
NM_000051.4(ATM):c.8786+11T>G rs368627124
NM_000051.4(ATM):c.8786+14A>C rs2137299188
NM_000051.4(ATM):c.8786+14A>G rs2137299188
NM_000051.4(ATM):c.8786+16T>A
NM_000051.4(ATM):c.8786+16T>C rs1057521277
NM_000051.4(ATM):c.8786+16T>G rs1057521277
NM_000051.4(ATM):c.8786+17A>G
NM_000051.4(ATM):c.8786+19del rs730881307
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.8786+20G>A rs56283878
NM_000051.4(ATM):c.8786+2T>A rs1555142918
NM_000051.4(ATM):c.8786+2T>C rs1555142918
NM_000051.4(ATM):c.8786+4A>T rs2137297919
NM_000051.4(ATM):c.8786+5_8786+9dup rs2137298148
NM_000051.4(ATM):c.8786+6_8786+9dup rs1312735736
NM_000051.4(ATM):c.8786+7G>A rs1555142923
NM_000051.4(ATM):c.8786+8A>G rs4986839
NM_000051.4(ATM):c.8786+90G>A rs179108
NM_000051.4(ATM):c.8786+9T>C rs1060504271
NM_000051.4(ATM):c.8786_8786+3del rs1060501569
NM_000051.4(ATM):c.8787-11_8787-8dup
NM_000051.4(ATM):c.8787-12G>C rs1565582204
NM_000051.4(ATM):c.8787-13T>A
NM_000051.4(ATM):c.8787-14G>T
NM_000051.4(ATM):c.8787-17_8787-15del rs1349996464
NM_000051.4(ATM):c.8787-19A>G rs1555143457
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8787-20T>A rs1352666899
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8787-3T>C rs2089687765
NM_000051.4(ATM):c.8787-55C>T rs664982
NM_000051.4(ATM):c.8787-5T>C rs1479499265
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8787-7A>G rs1591313741
NM_000051.4(ATM):c.8787-9dup
NM_000051.4(ATM):c.8788T>C (p.Cys2930Arg)
NM_000051.4(ATM):c.8788T>G (p.Cys2930Gly) rs876659807
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.4(ATM):c.8789G>T (p.Cys2930Phe) rs1060501572
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8790C>T (p.Cys2930=) rs1565582275
NM_000051.4(ATM):c.8791T>C (p.Cys2931Arg) rs2089690140
NM_000051.4(ATM):c.8792G>A (p.Cys2931Tyr) rs1060501563
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.8794G>A (p.Glu2932Lys) rs1240328733
NM_000051.4(ATM):c.8795A>G (p.Glu2932Gly) rs2089691352
NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter) rs587779875
NM_000051.4(ATM):c.8801C>A (p.Thr2934Asn) rs1591314020
NM_000051.4(ATM):c.8801C>T (p.Thr2934Ile) rs1591314020
NM_000051.4(ATM):c.8802C>G (p.Thr2934=) rs1565582354
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8804T>C (p.Met2935Thr) rs2137348119
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu) rs587782149
NM_000051.4(ATM):c.8810_8813dup (p.Met2938fs) rs2137348962
NM_000051.4(ATM):c.8811G>A (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8811G>T (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8815_8816delinsGC (p.Arg2939Ala)
NM_000051.4(ATM):c.8816_8828del (p.Arg2939fs) rs2089694729
NM_000051.4(ATM):c.8818A>G (p.Asn2940Asp) rs1565582460
NM_000051.4(ATM):c.8818_8819del (p.Asn2940fs) rs2137350203
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter) rs876658959
NM_000051.4(ATM):c.8820C>G (p.Asn2940Lys) rs775823407
NM_000051.4(ATM):c.8821T>C (p.Ser2941Pro) rs1555143549
NM_000051.4(ATM):c.8821T>G (p.Ser2941Ala) rs1555143549
NM_000051.4(ATM):c.8822C>G (p.Ser2941Cys)
NM_000051.4(ATM):c.8822C>T (p.Ser2941Phe) rs1591314282
NM_000051.4(ATM):c.8823T>C (p.Ser2941=) rs1060504288
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter) rs1591314316
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs) rs2089695236
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)
NM_000051.4(ATM):c.8826G>C (p.Gln2942His) rs2137351461
NM_000051.4(ATM):c.8831C>T (p.Thr2944Ile) rs1555143562
NM_000051.4(ATM):c.8833C>G (p.Leu2945Val) rs786203505
NM_000051.4(ATM):c.8833C>T (p.Leu2945=) rs786203505
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8837T>C (p.Leu2946Ser) rs2137352720
NM_000051.4(ATM):c.8839A>G (p.Thr2947Ala)
NM_000051.4(ATM):c.8839A>T (p.Thr2947Ser) rs760950400
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.4(ATM):c.8841C>G (p.Thr2947=) rs2137353155
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)
NM_000051.4(ATM):c.8841_8842insTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCANNNNNNNNNNNNNAAAAAAAAAA (p.Thr2947_Ile2948insPheIleSerGluGlyGluIleLysTyrPheThrAspLysGlnMetLeuArgAspPheValXaaXaaXaaXaaXaaLysLysLys)
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val) rs1333760745
NM_000051.4(ATM):c.8842A>T (p.Ile2948Phe)
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.8844T>G (p.Ile2948Met) rs878853551
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile) rs587782497
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8846T>G (p.Val2949Gly)
NM_000051.4(ATM):c.8848G>C (p.Glu2950Gln)
NM_000051.4(ATM):c.8848_8850+3del rs2137353827
NM_000051.4(ATM):c.8850+12dup rs1555143639
NM_000051.4(ATM):c.8850+13A>C
NM_000051.4(ATM):c.8850+13A>G rs2089708352
NM_000051.4(ATM):c.8850+13dup
NM_000051.4(ATM):c.8850+14T>C rs1294857465
NM_000051.4(ATM):c.8850+17G>C
NM_000051.4(ATM):c.8850+18G>A rs969877924
NM_000051.4(ATM):c.8850+1G>T
NM_000051.4(ATM):c.8850+20A>C rs2137357318
NM_000051.4(ATM):c.8850+2T>G rs1555143623
NM_000051.4(ATM):c.8850+4A>G rs587782335
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+6G>A rs2089704921
NM_000051.4(ATM):c.8850+6G>C rs2089704921
NM_000051.4(ATM):c.8850+7T>C rs2137355586
NM_000051.4(ATM):c.8850+9T>G rs571828498
NM_000051.4(ATM):c.8851-10C>G rs1057521676
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000051.4(ATM):c.8851-10_8851-7del rs1591384042
NM_000051.4(ATM):c.8851-12C>G
NM_000051.4(ATM):c.8851-15G>A rs1222455348
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.8851-18T>C
NM_000051.4(ATM):c.8851-1G>C rs1057516537
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8851-20C>T
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-3T>C rs748874219
NM_000051.4(ATM):c.8851-4_8852del rs2091196613
NM_000051.4(ATM):c.8851-6G>C rs777096209
NM_000051.4(ATM):c.8851-6_8851-3dup
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.4(ATM):c.8851G>T (p.Val2951Phe)
NM_000051.4(ATM):c.8852T>A (p.Val2951Asp)
NM_000051.4(ATM):c.8853C>G (p.Val2951=) rs878853552
NM_000051.4(ATM):c.8853C>T (p.Val2951=)
NM_000051.4(ATM):c.8854C>A (p.Leu2952Ile)
NM_000051.4(ATM):c.8854C>G (p.Leu2952Val) rs1555151218
NM_000051.4(ATM):c.8855T>C (p.Leu2952Pro) rs1591384283
NM_000051.4(ATM):c.8856T>C (p.Leu2952=)
NM_000051.4(ATM):c.8857C>G (p.Leu2953Val) rs2137870068
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs) rs2091198449
NM_000051.4(ATM):c.8860T>A (p.Tyr2954Asn)
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8860T>G (p.Tyr2954Asp)
NM_000051.4(ATM):c.8861_8877del (p.Tyr2954fs) rs2091199523
NM_000051.4(ATM):c.8863_8865del (p.Asp2955del) rs587780644
NM_000051.4(ATM):c.8865del (p.Pro2956fs) rs1591384391
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
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.8869C>G (p.Leu2957Val) rs2137872203
NM_000051.4(ATM):c.8870T>G (p.Leu2957Arg) rs1555151255
NM_000051.4(ATM):c.8871C>T (p.Leu2957=)
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer) rs2091200503
NM_000051.4(ATM):c.8872T>C (p.Phe2958Leu)
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer) rs864622669
NM_000051.4(ATM):c.8874_8930dup (p.Asp2976_Glu2977insAspAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAsp)
NM_000051.4(ATM):c.8875G>A (p.Asp2959Asn)
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8877C>T (p.Asp2959=)
NM_000051.4(ATM):c.8878T>A (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8878_8879delinsCT (p.Trp2960Leu)
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.8880G>C (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8880G>T (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8881A>G (p.Thr2961Ala) rs1565607505
NM_000051.4(ATM):c.8882C>G (p.Thr2961Ser)
NM_000051.4(ATM):c.8882C>T (p.Thr2961Ile) rs1591384581
NM_000051.4(ATM):c.8883dup (p.Met2962fs) rs2137874352
NM_000051.4(ATM):c.8886G>A (p.Met2962Ile) rs2137874845
NM_000051.4(ATM):c.8889T>C (p.Asn2963=) rs1476881353
NM_000051.4(ATM):c.8891C>A (p.Pro2964His)
NM_000051.4(ATM):c.8891C>T (p.Pro2964Leu)
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8894T>G (p.Leu2965Trp) rs1555151299
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8900C>T (p.Ala2967Val)
NM_000051.4(ATM):c.8901T>A (p.Ala2967=)
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter) rs1555151315
NM_000051.4(ATM):c.8904G>T (p.Leu2968Phe) rs1555151326
NM_000051.4(ATM):c.8904_8905del (p.Tyr2969fs)
NM_000051.4(ATM):c.8905T>C (p.Tyr2969His) rs1591384712
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8907T>G (p.Tyr2969Ter)
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8912A>G (p.Gln2971Arg) rs1060501714
NM_000051.4(ATM):c.8914C>T (p.Gln2972Ter) rs2137878257
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met) rs730881331
NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer) rs1064795675
NM_000051.4(ATM):c.8919G>A (p.Arg2973=) rs786203613
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser) rs786203613
NM_000051.4(ATM):c.8919G>T (p.Arg2973Ser) rs786203613
NM_000051.4(ATM):c.8920C>A (p.Pro2974Thr) rs984616023
NM_000051.4(ATM):c.8920C>T (p.Pro2974Ser) rs984616023
NM_000051.4(ATM):c.8921C>A (p.Pro2974Gln) rs139379666
NM_000051.4(ATM):c.8921_8922insTTC (p.Pro2974_Glu2975insSer) rs2091207598
NM_000051.4(ATM):c.8923del (p.Glu2975fs) rs2137879945
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer) rs1555151395
NM_000051.4(ATM):c.8926G>T (p.Asp2976Tyr)
NM_000051.4(ATM):c.8928T>C (p.Asp2976=) rs786202343
NM_000051.4(ATM):c.8933C>G (p.Thr2978Ser) rs765446164
NM_000051.4(ATM):c.8933C>T (p.Thr2978Ile)
NM_000051.4(ATM):c.8934T>C (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8934T>G (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs) rs2137881586
NM_000051.4(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.4(ATM):c.8938C>G (p.Leu2980Val) rs786203721
NM_000051.4(ATM):c.8939T>G (p.Leu2980Arg)
NM_000051.4(ATM):c.8941C>T (p.His2981Tyr) rs1555151422
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8942del (p.His2981fs) rs786203489
NM_000051.4(ATM):c.8943C>G (p.His2981Gln) rs876660594
NM_000051.4(ATM):c.8944C>A (p.Pro2982Thr) rs1485620194
NM_000051.4(ATM):c.8944C>G (p.Pro2982Ala)
NM_000051.4(ATM):c.8945dup (p.Thr2983fs) rs2137882907
NM_000051.4(ATM):c.8946T>C (p.Pro2982=) rs780572651
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs) rs2091211325
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile) rs1472935232
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val) rs747445236
NM_000051.4(ATM):c.8950C>T (p.Leu2984=) rs747445236
NM_000051.4(ATM):c.8952G>A (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>C (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>T (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8955T>A (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8955T>G (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8958A>C (p.Ala2986=) rs863224567
NM_000051.4(ATM):c.8958A>T (p.Ala2986=)
NM_000051.4(ATM):c.8959G>C (p.Asp2987His) rs863224582
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.8960A>G (p.Asp2987Gly) rs2091213427
NM_000051.4(ATM):c.8960A>T (p.Asp2987Val)
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter) rs147695170
NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg) rs1555151490
NM_000051.4(ATM):c.8967A>G (p.Gln2989=) rs876659033
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln) rs1800558
NM_000051.4(ATM):c.8971T>C (p.Cys2991Arg) rs1591385376
NM_000051.4(ATM):c.8972G>A (p.Cys2991Tyr) rs1555151500
NM_000051.4(ATM):c.8973C>A (p.Cys2991Ter) rs2137886925
NM_000051.4(ATM):c.8976del (p.Lys2992fs) rs2137887202
NM_000051.4(ATM):c.8977C>G (p.Arg2993Gly) rs770641163
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8979A>C (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.8979A>G (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.8981A>C (p.Asn2994Thr) rs2091216343
NM_000051.4(ATM):c.8981A>G (p.Asn2994Ser) rs2091216343
NM_000051.4(ATM):c.8982T>A (p.Asn2994Lys) rs2137888159
NM_000051.4(ATM):c.8982T>C (p.Asn2994=) rs2137888159
NM_000051.4(ATM):c.8985C>T (p.Leu2995=) rs771675608
NM_000051.4(ATM):c.8986dup (p.Ser2996fs) rs2137888813
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000051.4(ATM):c.8987+11T>G rs1555151554
NM_000051.4(ATM):c.8987+12T>C
NM_000051.4(ATM):c.8987+13T>C
NM_000051.4(ATM):c.8987+1G>A rs786203631
NM_000051.4(ATM):c.8987+1G>C rs786203631
NM_000051.4(ATM):c.8987+2T>A
NM_000051.4(ATM):c.8987+3_8987+35del rs774188684
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.8987+6_8987+17dup
NM_000051.4(ATM):c.8987+7A>G
NM_000051.4(ATM):c.8987+8G>C rs2137889967
NM_000051.4(ATM):c.8987+9T>C
NM_000051.4(ATM):c.8987G>A (p.Ser2996Asn) rs1555151525
NM_000051.4(ATM):c.8987G>C (p.Ser2996Thr)
NM_000051.4(ATM):c.8988-10T>C rs2137901897
NM_000051.4(ATM):c.8988-12T>A rs1370262422
NM_000051.4(ATM):c.8988-13T>A
NM_000051.4(ATM):c.8988-13T>C rs756571175
NM_000051.4(ATM):c.8988-13T>G rs756571175
NM_000051.4(ATM):c.8988-14G>A
NM_000051.4(ATM):c.8988-15T>A
NM_000051.4(ATM):c.8988-16G>A
NM_000051.4(ATM):c.8988-17dup rs2137900748
NM_000051.4(ATM):c.8988-18T>G
NM_000051.4(ATM):c.8988-18_8988-17del
NM_000051.4(ATM):c.8988-19T>C rs2137900568
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-1G>T rs730881386
NM_000051.4(ATM):c.8988-2A>C rs786202087
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.8988-6C>T
NM_000051.4(ATM):c.8988-6_8988-4del rs767175242
NM_000051.4(ATM):c.8988-7T>A rs1487809821
NM_000051.4(ATM):c.8988-8G>A rs1555151666
NM_000051.4(ATM):c.8988-8dup rs1591386308
NM_000051.4(ATM):c.8988-9T>C rs2137902045
NM_000051.4(ATM):c.8989G>A (p.Asp2997Asn) rs2091232028
NM_000051.4(ATM):c.8990A>G (p.Asp2997Gly)
NM_000051.4(ATM):c.8992A>G (p.Ile2998Val) rs1565608692
NM_000051.4(ATM):c.8993T>A (p.Ile2998Asn) rs778670498
NM_000051.4(ATM):c.8996A>T (p.Asp2999Val) rs1555151684
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)
NM_000051.4(ATM):c.8998C>G (p.Gln3000Glu) rs587781698
NM_000051.4(ATM):c.8999A>G (p.Gln3000Arg) rs2137905294
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs) rs876660022
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9002G>C (p.Ser3001Thr) rs587781413
NM_000051.4(ATM):c.9005T>A (p.Phe3002Tyr) rs1565608780
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9007A>G (p.Asn3003Asp) rs1137889
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs) rs2137906600
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.9008A>T (p.Asn3003Ile)
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.4(ATM):c.9010A>T (p.Lys3004Ter)
NM_000051.4(ATM):c.9012A>G (p.Lys3004=) rs2137907131
NM_000051.4(ATM):c.9012del (p.Lys3004_Val3005insTer)
NM_000051.4(ATM):c.9013G>C (p.Val3005Leu) rs1555151745
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.4(ATM):c.9016G>A (p.Ala3006Thr) rs876658767
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.9019_9021dup (p.Glu3007_Arg3008insGlu)
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000051.4(ATM):c.9021A>G (p.Glu3007=)
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly) rs587782292
NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro) rs587781894
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.9026T>C (p.Val3009Ala)
NM_000051.4(ATM):c.9026T>G (p.Val3009Gly) rs1565608934
NM_000051.4(ATM):c.9027C>G (p.Val3009=) rs1200351979
NM_000051.4(ATM):c.9028T>C (p.Leu3010=)
NM_000051.4(ATM):c.9029T>C (p.Leu3010Ser) rs2137909752
NM_000051.4(ATM):c.9030_9032del (p.Met3011del)
NM_000051.4(ATM):c.9031A>T (p.Met3011Leu) rs372795527
NM_000051.4(ATM):c.9032T>A (p.Met3011Lys) rs1555151804
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr) rs1555151804
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg) rs1555151804
NM_000051.4(ATM):c.9033G>A (p.Met3011Ile)
NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs) rs1565609008
NM_000051.4(ATM):c.9038T>C (p.Leu3013Pro)
NM_000051.4(ATM):c.9039A>G (p.Leu3013=) rs876659127
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9040C>A (p.Gln3014Lys)
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.9042A>T (p.Gln3014His) rs1060504291
NM_000051.4(ATM):c.9043G>A (p.Glu3015Lys) rs1591387120
NM_000051.4(ATM):c.9044A>G (p.Glu3015Gly) rs1565609065
NM_000051.4(ATM):c.9045G>C (p.Glu3015Asp) rs786203336
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer) rs1555151827
NM_000051.4(ATM):c.9046A>G (p.Lys3016Glu) rs2091242377
NM_000051.4(ATM):c.9047A>C (p.Lys3016Thr) rs2137912584
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9048A>G (p.Lys3016=) rs553001467
NM_000051.4(ATM):c.9050T>G (p.Leu3017Arg) rs786204218
NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs) rs1555151854
NM_000051.4(ATM):c.9051G>A (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9051G>C (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9052A>C (p.Lys3018Gln)
NM_000051.4(ATM):c.9052A>G (p.Lys3018Glu) rs2091243577
NM_000051.4(ATM):c.9060G>A (p.Val3020=) rs864622625
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter) rs2091244384
NM_000051.4(ATM):c.9061del (p.Glu3021fs) rs2137914537
NM_000051.4(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9066del (p.Gly3023fs)
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser) rs879253964
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.4(ATM):c.9068G>T (p.Gly3023Val) rs769548726
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.4(ATM):c.9070_*53del (p.Thr3024fs) rs2137915972
NM_000051.4(ATM):c.9071C>G (p.Thr3024Ser) rs786203183
NM_000051.4(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.4(ATM):c.9073G>T (p.Val3025Leu) rs1555151925
NM_000051.4(ATM):c.9073del (p.Val3025fs) rs1555151928
NM_000051.4(ATM):c.9073dup (p.Val3025fs) rs2137916728
NM_000051.4(ATM):c.9074T>C (p.Val3025Ala) rs2137916904
NM_000051.4(ATM):c.9076C>T (p.Leu3026Phe)
NM_000051.4(ATM):c.9077T>A (p.Leu3026His) rs1565609286
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg) rs1565609286
NM_000051.4(ATM):c.9078C>G (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9078C>T (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.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>A (p.Ser3027Asn) rs1565609342
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile) rs1565609342
NM_000051.4(ATM):c.9081T>C (p.Ser3027=) rs2091248229
NM_000051.4(ATM):c.9082G>A (p.Val3028Ile) rs876660251
NM_000051.4(ATM):c.9082_9083del (p.Val3028fs)
NM_000051.4(ATM):c.9083T>C (p.Val3028Ala) rs2137918557
NM_000051.4(ATM):c.9084T>C (p.Val3028=) rs786203210
NM_000051.4(ATM):c.9084TGG[1] (p.Gly3030del) rs1591387676
NM_000051.4(ATM):c.9085G>C (p.Gly3029Arg)
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val) rs201199629
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs) rs2137919004
NM_000051.4(ATM):c.9088G>C (p.Gly3030Arg) rs879254215
NM_000051.4(ATM):c.9089G>A (p.Gly3030Glu) rs876658529
NM_000051.4(ATM):c.9089G>T (p.Gly3030Val) rs876658529
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9091del (p.Gln3031fs) rs2091250180
NM_000051.4(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu) rs1555151979
NM_000051.4(ATM):c.9094G>A (p.Val3032Met) rs587779877
NM_000051.4(ATM):c.9095_9121del (p.Val3032_Ile3040del) rs2091250755
NM_000051.4(ATM):c.9096G>A (p.Val3032=) rs1565609478
NM_000051.4(ATM):c.9096G>C (p.Val3032=)
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
NM_000051.4(ATM):c.9100T>C (p.Leu3034=) rs2091251592
NM_000051.4(ATM):c.9101T>G (p.Leu3034Trp) rs1555151992
NM_000051.4(ATM):c.9102G>A (p.Leu3034=)
NM_000051.4(ATM):c.9103C>G (p.Leu3035Val) rs866769874
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000051.4(ATM):c.9104T>A (p.Leu3035His) rs1272213516
NM_000051.4(ATM):c.9105C>T (p.Leu3035=)
NM_000051.4(ATM):c.9106A>C (p.Ile3036Leu)
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.4(ATM):c.9108A>C (p.Ile3036=)
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.4(ATM):c.9111G>T (p.Gln3037His) rs1555152012
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.4(ATM):c.9114G>C (p.Gln3038His) rs2091254206
NM_000051.4(ATM):c.9115G>C (p.Ala3039Pro)
NM_000051.4(ATM):c.9117C>T (p.Ala3039=) rs1289926943
NM_000051.4(ATM):c.9125C>T (p.Pro3042Leu) rs2137925225
NM_000051.4(ATM):c.9126del (p.Asn3044fs)
NM_000051.4(ATM):c.9127A>G (p.Lys3043Glu) rs1591388080
NM_000051.4(ATM):c.9127_9128insGCCGACTTTTCCCAGGATGGGA (p.Lys3043fs) rs2137925596
NM_000051.4(ATM):c.9131del (p.Asn3044fs) rs1591388094
NM_000051.4(ATM):c.9131dup (p.Asn3044fs) rs1591388094
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs) rs2137926139
NM_000051.4(ATM):c.9133C>G (p.Leu3045Val) rs1555152033
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.4(ATM):c.9134T>C (p.Leu3045Pro) rs1591388159
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly) rs1555152041
NM_000051.4(ATM):c.9138C>G (p.Ser3046Arg) rs1591388202
NM_000051.4(ATM):c.9140G>A (p.Arg3047Gln) rs1047129530
NM_000051.4(ATM):c.9140G>T (p.Arg3047Leu)
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000051.4(ATM):c.9144T>A (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9144T>C (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9145T>C (p.Phe3049Leu)
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9147C>A (p.Phe3049Leu) rs2091258043
NM_000051.4(ATM):c.9148C>T (p.Pro3050Ser) rs2137928327
NM_000051.4(ATM):c.9150A>G (p.Pro3050=) rs2137928625
NM_000051.4(ATM):c.9151G>A (p.Gly3051Arg)
NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu) rs1555152073
NM_000051.4(ATM):c.9152G>C (p.Gly3051Ala) rs1555152073
NM_000051.4(ATM):c.9152G>T (p.Gly3051Val) rs1555152073
NM_000051.4(ATM):c.9153A>C (p.Gly3051=) rs1555152080
NM_000051.4(ATM):c.9154T>C (p.Trp3052Arg) rs2091259011
NM_000051.4(ATM):c.9155G>A (p.Trp3052Ter)
NM_000051.4(ATM):c.9155G>C (p.Trp3052Ser) rs1591388369
NM_000051.4(ATM):c.9156G>A (p.Trp3052Ter) rs587781711
NM_000051.4(ATM):c.9157A>C (p.Lys3053Gln) rs1555152104
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter) rs1555152104
NM_000051.4(ATM):c.9159A>G (p.Lys3053=) rs1060504315
NM_000051.4(ATM):c.9160G>A (p.Ala3054Thr) rs1565609869
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro) rs1565609869
NM_000051.4(ATM):c.9160_9161delinsTA (p.Ala3054Tyr) rs2137930126
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
NM_000051.4(ATM):c.9161C>G (p.Ala3054Gly) rs1555152117
NM_000051.4(ATM):c.9161C>T (p.Ala3054Val) rs1555152117
NM_000051.4(ATM):c.9163T>G (p.Trp3055Gly)
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_000051.4(ATM):c.9164G>T (p.Trp3055Leu)
NM_000051.4(ATM):c.9165G>A (p.Trp3055Ter)
NM_000051.4(ATM):c.9166G>C (p.Val3056Leu)
NM_000051.4(ATM):c.9168G>A (p.Val3056=) rs1591388522
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg) rs2091262473
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000051.4(ATM):c.9170G>A (p.Ter3057=)
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser) rs2091262802
NM_000051.4(ATM):c.9171A>T (p.Ter3057Cys) rs2091262986

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