ClinVar Miner

List of variants studied for Ataxia-telangiectasia syndrome

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ClinVar version:
Total variants: 12592
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
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.3994-193T>C rs609261 0.52017
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.2377-56A>G rs672655 0.48759
NM_000051.4(ATM):c.-111G>A rs189037 0.48627
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.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.06221
NM_000051.4(ATM):c.*3072C>T rs3092844 0.06203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.1899-55T>G rs4987951 0.03178
NM_000051.4(ATM):c.*551T>C rs143531724 0.03007
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
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.5497-8T>C rs3092829 0.02183
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.*1882C>G rs80226715 0.01757
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000051.4(ATM):c.*371A>G rs3092835 0.01507
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.*3093C>T rs79807288 0.01336
NM_000051.4(ATM):c.3403-34T>A rs148368017 0.01280
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.3402+70A>G rs3218671 0.01120
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.*684T>G rs3092837 0.01076
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.4776+41C>T rs114726455 0.00726
NM_000051.4(ATM):c.*1799C>T rs114847811 0.00725
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
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.3994-121del rs56013141 0.00643
NM_000051.4(ATM):c.*236C>T rs3092834 0.00640
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
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.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
NM_000051.4(ATM):c.5005+18G>A rs76290788 0.00414
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.*1974C>G rs148781946 0.00368
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
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.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.*3136A>G rs3092845 0.00242
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.*2866T>C rs191399133 0.00142
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000051.4(ATM):c.2125-48T>C rs371067508 0.00101
NM_000051.4(ATM):c.*3413T>C rs4987114 0.00100
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
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.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.*521del rs886047615 0.00062
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 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.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
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.4109+54A>T rs181020146 0.00040
NM_000051.4(ATM):c.3403-14A>T rs941737393 0.00038
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.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4612-32_4612-30del rs113149503 0.00031
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
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.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.2251-19T>C rs370713089 0.00024
NM_000051.4(ATM):c.*3022C>G rs145076930 0.00022
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 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.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 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.3402+17T>C rs3092825 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.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 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.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.*2563C>T rs146547907 0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 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.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 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.2887A>G (p.Met963Val) rs374353016 0.00015
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.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg) rs587782442 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
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.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 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.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.3153+20T>C rs200786429 0.00012
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
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.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
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.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4237-71A>G rs45547832 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000051.4(ATM):c.572T>A (p.Ile191Asn) rs767132334 0.00009
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 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.1236-2A>T rs80159221 0.00008
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.3284+16T>G rs376541962 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 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.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.3(ATM):c.-186G>A rs879725890 0.00006
NM_000051.3(ATM):c.-218T>A rs886047609 0.00006
NM_000051.4(ATM):c.*3091G>A rs886047629 0.00006
NM_000051.4(ATM):c.-94G>A rs766115348 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.1887C>T (p.Ser629=) rs143097772 0.00006
NM_000051.4(ATM):c.1899-123A>G rs55744559 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2527A>G (p.Asn843Asp) rs1162447958 0.00006
NM_000051.4(ATM):c.2679A>T (p.Gln893His) rs139316519 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.3993+18A>G rs201171518 0.00006
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val) rs746709782 0.00006
NM_000051.4(ATM):c.4449C>T (p.Ile1483=) rs786203726 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.5005+17C>G rs200688912 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425 0.00006
NM_000051.4(ATM):c.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 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.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.*222C>T rs760852487 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.3403-14_3403-13del rs1565441205 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.5675-13T>A rs373219694 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.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.716T>C (p.Phe239Ser) rs143198946 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000051.3(ATM):c.-274G>A rs886047606 0.00004
NM_000051.3(ATM):c.-398G>A rs996438197 0.00004
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.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1608-19G>T rs773158102 0.00004
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser) rs368209025 0.00004
NM_000051.4(ATM):c.1837G>T (p.Val613Leu) rs200124136 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2124+13A>T rs199648955 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00004
NM_000051.4(ATM):c.3012C>T (p.Ser1004=) rs751260996 0.00004
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=) rs780240314 0.00004
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.3777G>A (p.Leu1259=) rs780192529 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His) rs201594549 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 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.1234T>C (p.Trp412Arg) rs587779812 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn) rs876659240 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1556T>C (p.Val519Ala) rs574458765 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg) rs587782141 0.00003
NM_000051.4(ATM):c.2013A>T (p.Ile671=) rs1371341017 0.00003
NM_000051.4(ATM):c.2057T>A (p.Leu686His) rs1239416977 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2151G>C (p.Arg717=) rs1331738032 0.00003
NM_000051.4(ATM):c.2180G>T (p.Gly727Val) rs1446080226 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe) rs730881345 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala) rs926246315 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala) rs552010421 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly) rs761251711 0.00003
NM_000051.4(ATM):c.2603A>G (p.Asp868Gly) rs750322758 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.2751C>T (p.Ser917=) rs876659611 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.3373T>C (p.Leu1125=) rs775277598 0.00003
NM_000051.4(ATM):c.3402+10A>C rs919002854 0.00003
NM_000051.4(ATM):c.3514G>C (p.Ala1172Pro) rs779946941 0.00003
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln) rs377349886 0.00003
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389 0.00003
NM_000051.4(ATM):c.379A>T (p.Thr127Ser) rs587781741 0.00003
NM_000051.4(ATM):c.389A>G (p.Asp130Gly) rs766034066 0.00003
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.4008C>T (p.Phe1336=) rs748055132 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) rs730881369 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg) rs752559455 0.00003
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352 0.00003
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.4687G>A (p.Asp1563Asn) rs1464587365 0.00003
NM_000051.4(ATM):c.469T>G (p.Cys157Gly) rs1248850168 0.00003
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr) rs753269143 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00003
NM_000051.4(ATM):c.5069A>G (p.His1690Arg) rs863224574 0.00003
NM_000051.4(ATM):c.5183A>C (p.Lys1728Thr) rs1060501613 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 0.00003
NM_000051.4(ATM):c.5566G>A (p.Glu1856Lys) rs1465041573 0.00003
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser) rs587779850 0.00003
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr) rs766901049 0.00003
NM_000051.4(ATM):c.5725A>G (p.Met1909Val) rs750561317 0.00003
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.601C>G (p.Gln201Glu) rs886039666 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.649A>G (p.Ile217Val) rs547045780 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.668A>G (p.Glu223Gly) rs776227830 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.1065+17A>C rs373230921 0.00002
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly) rs775767808 0.00002
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00002
NM_000051.4(ATM):c.1235+20T>G rs762656752 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.1392G>A (p.Leu464=) rs760191806 0.00002
NM_000051.4(ATM):c.1596C>T (p.Cys532=) rs564050785 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly) rs876659425 0.00002
NM_000051.4(ATM):c.1707C>T (p.Ser569=) rs1381837075 0.00002
NM_000051.4(ATM):c.175G>T (p.Ala59Ser) rs752527112 0.00002
NM_000051.4(ATM):c.1792A>G (p.Ile598Val) rs730881343 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.1947A>G (p.Glu649=) rs1032244771 0.00002
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu) rs779004090 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000051.4(ATM):c.2258T>C (p.Met753Thr) rs587781607 0.00002
NM_000051.4(ATM):c.2262A>G (p.Gln754=) rs778320952 0.00002
NM_000051.4(ATM):c.2338A>T (p.Met780Leu) rs587781446 0.00002
NM_000051.4(ATM):c.2466+1552G>C rs963653732 0.00002
NM_000051.4(ATM):c.2619A>G (p.Gly873=) rs777979257 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2638+8C>T rs776116433 0.00002
NM_000051.4(ATM):c.2736G>A (p.Gln912=) rs757305928 0.00002
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser) rs141947469 0.00002
NM_000051.4(ATM):c.2921+16C>A rs558376224 0.00002
NM_000051.4(ATM):c.2922-8T>C rs545892367 0.00002
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys) rs587780619 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val) rs746133264 0.00002
NM_000051.4(ATM):c.308A>G (p.Tyr103Cys) rs1249361503 0.00002
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser) rs755237639 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=) rs587780543 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.3402+3A>G rs786203688 0.00002
NM_000051.4(ATM):c.3446A>G (p.Asn1149Ser) rs1414846775 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370 0.00002
NM_000051.4(ATM):c.3746+16A>T rs1252299197 0.00002
NM_000051.4(ATM):c.3747-9T>C rs760676626 0.00002
NM_000051.4(ATM):c.381A>G (p.Thr127=) rs762582522 0.00002
NM_000051.4(ATM):c.3841A>T (p.Ser1281Cys) rs370785959 0.00002
NM_000051.4(ATM):c.38G>A (p.Arg13His) rs778201041 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr) rs1309605588 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn) rs764564211 0.00002
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu) rs750771205 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg) rs758180727 0.00002
NM_000051.4(ATM):c.425G>A (p.Ser142Asn) rs755618506 0.00002
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr) rs544891616 0.00002
NM_000051.4(ATM):c.4307A>G (p.His1436Arg) rs940104361 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4476C>T (p.Ser1492=) rs780236656 0.00002
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.4612-17T>C rs550966528 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.4662C>A (p.Asn1554Lys) rs776761757 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.4910-20T>G rs773731240 0.00002
NM_000051.4(ATM):c.4921G>C (p.Asp1641His) rs587782896 0.00002
NM_000051.4(ATM):c.49C>A (p.His17Asn) rs876658161 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5006-18T>A rs768321973 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.504C>G (p.Phe168Leu) rs1060504312 0.00002
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041 0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met) rs372694758 0.00002
NM_000051.4(ATM):c.5251G>C (p.Glu1751Gln) rs755397489 0.00002
NM_000051.4(ATM):c.5319+8A>G rs375051697 0.00002
NM_000051.4(ATM):c.5364C>T (p.Gly1788=) rs780134093 0.00002
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly) rs746945284 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys) rs730881375 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 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.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 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.852A>G (p.Gln284=) rs140367473 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.901+1G>A rs748840480 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.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.3(ATM):c.-174A>C rs928618464 0.00001
NM_000051.3(ATM):c.-229C>G rs886047608 0.00001
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.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1023C>T (p.Val341=) rs35728619 0.00001
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr) rs1064794119 0.00001
NM_000051.4(ATM):c.1029A>G (p.Glu343=) rs778388800 0.00001
NM_000051.4(ATM):c.1038T>A (p.Ile346=) rs749950833 0.00001
NM_000051.4(ATM):c.1047G>A (p.Met349Ile) rs768480943 0.00001
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.104G>A (p.Arg35Gln) rs876659324 0.00001
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn) rs876659092 0.00001
NM_000051.4(ATM):c.1054A>G (p.Ile352Val) rs748380019 0.00001
NM_000051.4(ATM):c.1055T>C (p.Ile352Thr) rs369203092 0.00001
NM_000051.4(ATM):c.1065+18T>A rs774940342 0.00001
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu) rs199869975 0.00001
NM_000051.4(ATM):c.1097_1101del (p.Ile366fs) rs2079990512 0.00001
NM_000051.4(ATM):c.10G>A (p.Val4Ile) rs1438588853 0.00001
NM_000051.4(ATM):c.1110C>T (p.Tyr370=) rs376170600 0.00001
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile) rs879254289 0.00001
NM_000051.4(ATM):c.1114A>G (p.Thr372Ala) rs1591517491 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1135G>A (p.Asp379Asn) rs1591517693 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1143T>A (p.Ser381Arg) rs755991658 0.00001
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp) rs777755997 0.00001
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg) rs757486696 0.00001
NM_000051.4(ATM):c.1178G>T (p.Trp393Leu) rs1025339570 0.00001
NM_000051.4(ATM):c.1197C>T (p.His399=) rs786201131 0.00001
NM_000051.4(ATM):c.1203G>A (p.Gln401=) rs1214283617 0.00001
NM_000051.4(ATM):c.1206G>A (p.Lys402=) rs776001057 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1209A>G (p.Ser403=) rs1213832469 0.00001
NM_000051.4(ATM):c.121A>G (p.Lys41Glu) rs1060501672 0.00001
NM_000051.4(ATM):c.1222G>A (p.Asp408Asn) rs864622548 0.00001
NM_000051.4(ATM):c.1225C>T (p.Leu409Phe) rs786203815 0.00001
NM_000051.4(ATM):c.1235+11dup rs773187419 0.00001
NM_000051.4(ATM):c.1235+14A>G rs776931625 0.00001
NM_000051.4(ATM):c.1235+3A>G rs1417190414 0.00001
NM_000051.4(ATM):c.1235+5A>T rs1064793679 0.00001
NM_000051.4(ATM):c.1235+6G>A rs2080003881 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1236-2dup rs1555070601 0.00001
NM_000051.4(ATM):c.1236-8T>C rs756160331 0.00001
NM_000051.4(ATM):c.1242G>A (p.Gln414=) rs786203667 0.00001
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro) rs376196220 0.00001
NM_000051.4(ATM):c.127C>G (p.Leu43Val) rs772591447 0.00001
NM_000051.4(ATM):c.1292A>C (p.Glu431Ala) rs1320262218 0.00001
NM_000051.4(ATM):c.1302A>G (p.Pro434=) rs1555070715 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1314A>G (p.Ile438Met) rs770573462 0.00001
NM_000051.4(ATM):c.1317A>G (p.Leu439=) rs1232968268 0.00001
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe) rs773895161 0.00001
NM_000051.4(ATM):c.1329A>C (p.Leu443=) rs201460863 0.00001
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg) rs1591523341 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.1338G>A (p.Gln446=) rs771673512 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1343A>G (p.His448Arg) rs1555070781 0.00001
NM_000051.4(ATM):c.134G>A (p.Arg45Gln) rs762382111 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.1362T>C (p.Tyr454=) rs1373614735 0.00001
NM_000051.4(ATM):c.1363G>A (p.Val455Met) rs368879876 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1407G>A (p.Arg469=) rs1555070912 0.00001
NM_000051.4(ATM):c.1410A>G (p.Ser470=) rs939650649 0.00001
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly) rs1555070958 0.00001
NM_000051.4(ATM):c.1441T>G (p.Leu481Val) rs775080283 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1455T>C (p.Asn485=) rs1385019623 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe) rs776412334 0.00001
NM_000051.4(ATM):c.1473C>G (p.Thr491=) rs764937436 0.00001
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys) rs750280306 0.00001
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.1487G>A (p.Ser496Asn) rs778890679 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly) rs766595156 0.00001
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser) rs56365018 0.00001
NM_000051.4(ATM):c.1515T>C (p.Phe505=) rs1057520521 0.00001
NM_000051.4(ATM):c.1536T>A (p.Ile512=) rs1060504296 0.00001
NM_000051.4(ATM):c.153A>G (p.Gln51=) rs2078823585 0.00001
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter) rs786202195 0.00001
NM_000051.4(ATM):c.1550T>G (p.Val517Gly) rs777986229 0.00001
NM_000051.4(ATM):c.1575G>A (p.Lys525=) rs587780613 0.00001
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu) rs864622262 0.00001
NM_000051.4(ATM):c.1585G>C (p.Gly529Arg) rs1325651820 0.00001
NM_000051.4(ATM):c.1601C>T (p.Pro534Leu) rs587782212 0.00001
NM_000051.4(ATM):c.1607+16A>G rs1057522219 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.1608-8T>C rs201110707 0.00001
NM_000051.4(ATM):c.1614A>G (p.Ala538=) rs876659636 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1641C>A (p.Thr547=) rs864622141 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1656A>G (p.Pro552=) rs1060504275 0.00001
NM_000051.4(ATM):c.1662G>A (p.Thr554=) rs764646531 0.00001
NM_000051.4(ATM):c.1671G>A (p.Met557Ile) rs730881341 0.00001
NM_000051.4(ATM):c.1675A>G (p.Ile559Val) rs1060501545 0.00001
NM_000051.4(ATM):c.167A>C (p.Asn56Thr) rs1040197895 0.00001
NM_000051.4(ATM):c.1688T>G (p.Met563Arg) rs750815208 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser) rs777301065 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1726A>G (p.Ile576Val) rs1064795170 0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.1746C>T (p.Phe582=) rs145629926 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1758G>A (p.Glu586=) rs1555072017 0.00001
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln) rs876659283 0.00001
NM_000051.4(ATM):c.1782A>T (p.Glu594Asp) rs876660494 0.00001
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu) rs765847854 0.00001
NM_000051.4(ATM):c.179T>C (p.Val60Ala) rs988441570 0.00001
NM_000051.4(ATM):c.1802+20A>G rs1009750697 0.00001
NM_000051.4(ATM):c.1802+7T>G rs1057521381 0.00001
NM_000051.4(ATM):c.1805A>G (p.Asn602Ser) rs1173305253 0.00001
NM_000051.4(ATM):c.1814A>G (p.His605Arg) rs771877351 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr) rs770377706 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+4T>A rs1060501685 0.00001
NM_000051.4(ATM):c.185+7T>C rs143404880 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.186-19G>A rs748791429 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 0.00001
NM_000051.4(ATM):c.186-8T>C rs1355404740 0.00001
NM_000051.4(ATM):c.1870A>G (p.Met624Val) rs863224557 0.00001
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile) rs766757573 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.1893A>G (p.Pro631=) rs764702196 0.00001
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.1898+9T>C rs1057520836 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.1899-11C>T rs730881282 0.00001
NM_000051.4(ATM):c.1899-15C>A rs759924007 0.00001
NM_000051.4(ATM):c.1899-9T>G rs1591533635 0.00001
NM_000051.4(ATM):c.1903C>T (p.His635Tyr) rs761491947 0.00001
NM_000051.4(ATM):c.1907A>G (p.His636Arg) rs1333990758 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 0.00001
NM_000051.4(ATM):c.1929T>G (p.Leu643=) rs876659911 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.193C>G (p.Gln65Glu) rs775248597 0.00001
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser) rs766259936 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.1961A>C (p.Gln654Pro) rs876659966 0.00001
NM_000051.4(ATM):c.1966A>G (p.Thr656Ala) rs1064793032 0.00001
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn) rs1060501565 0.00001
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys) rs750897021 0.00001
NM_000051.4(ATM):c.2013A>G (p.Ile671Met) rs1371341017 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2027C>A (p.Ser676Tyr) rs1219097850 0.00001
NM_000051.4(ATM):c.2048A>G (p.His683Arg) rs1421091487 0.00001
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu) rs1060501691 0.00001
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) rs772393149 0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys) rs769338089 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2075G>A (p.Arg692His) rs751515818 0.00001
NM_000051.4(ATM):c.2080C>T (p.Leu694Phe) rs759617968 0.00001
NM_000051.4(ATM):c.2088A>G (p.Gly696=) rs1555073469 0.00001
NM_000051.4(ATM):c.210A>T (p.Lys70Asn) rs1064793030 0.00001
NM_000051.4(ATM):c.2111A>C (p.Asn704Thr) rs753903558 0.00001
NM_000051.4(ATM):c.2116T>C (p.Ser706Pro) rs536609092 0.00001
NM_000051.4(ATM):c.2124+16A>G rs762709930 0.00001
NM_000051.4(ATM):c.2124+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp) rs1468938522 0.00001
NM_000051.4(ATM):c.2125-11T>A rs1054208254 0.00001
NM_000051.4(ATM):c.2125-8A>G rs757565418 0.00001
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala) rs750506930 0.00001
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp) rs587781654 0.00001
NM_000051.4(ATM):c.2141C>T (p.Thr714Ile) rs1555074846 0.00001
NM_000051.4(ATM):c.2167G>T (p.Val723Leu) rs1419404231 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.2175C>T (p.Val725=) rs140110298 0.00001
NM_000051.4(ATM):c.2176C>A (p.Leu726Ile) rs775266056 0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=) rs876658836 0.00001
NM_000051.4(ATM):c.2207C>T (p.Ala736Val) rs587780617 0.00001
NM_000051.4(ATM):c.2208T>C (p.Ala736=) rs761874856 0.00001
NM_000051.4(ATM):c.2229A>G (p.Ser743=) rs758453118 0.00001
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu) rs1017383703 0.00001
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595 0.00001
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr) rs1060501540 0.00001
NM_000051.4(ATM):c.2250+18A>G rs895190150 0.00001
NM_000051.4(ATM):c.2250+20T>C rs377570109 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2251-11A>G rs755369461 0.00001
NM_000051.4(ATM):c.2251-7A>G rs879254103 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2284C>G (p.Leu762Val) rs876659401 0.00001
NM_000051.4(ATM):c.229A>G (p.Ile77Val) rs1064796032 0.00001
NM_000051.4(ATM):c.2322T>C (p.Gly774=) rs769575297 0.00001
NM_000051.4(ATM):c.2331A>G (p.Arg777=) rs1313482346 0.00001
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser) rs587779820 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser) rs764538548 0.00001
NM_000051.4(ATM):c.2373C>T (p.Thr791=) rs878853494 0.00001
NM_000051.4(ATM):c.2374A>G (p.Lys792Glu) rs1423446897 0.00001
NM_000051.4(ATM):c.2376+16T>C rs751221076 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2376+6A>C rs1409294054 0.00001
NM_000051.4(ATM):c.2377-13G>C rs1296989358 0.00001
NM_000051.4(ATM):c.2377-18T>C rs761207086 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.2379G>A (p.Lys793=) rs1333875379 0.00001
NM_000051.4(ATM):c.238C>T (p.Pro80Ser) rs750597831 0.00001
NM_000051.4(ATM):c.2419T>C (p.Leu807=) rs1555076667 0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp) rs758962678 0.00001
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu) rs201909756 0.00001
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg) rs952566855 0.00001
NM_000051.4(ATM):c.2466+19T>G rs374249638 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-12T>G rs1469467036 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.2467-9T>A rs1555082040 0.00001
NM_000051.4(ATM):c.246A>G (p.Val82=) rs757944864 0.00001
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2475C>T (p.Phe825=) rs776907383 0.00001
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg) rs372230498 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val) rs730881349 0.00001
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys) rs141054982 0.00001
NM_000051.4(ATM):c.250G>T (p.Ala84Ser) rs1382256509 0.00001
NM_000051.4(ATM):c.2532A>G (p.Gly844=) rs755261743 0.00001
NM_000051.4(ATM):c.2550G>A (p.Glu850=) rs1399925352 0.00001
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly) rs748203812 0.00001
NM_000051.4(ATM):c.2564T>C (p.Met855Thr) rs587779824 0.00001
NM_000051.4(ATM):c.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn) rs587779825 0.00001
NM_000051.4(ATM):c.2589T>C (p.Asp863=) rs1057520227 0.00001
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly) rs764842086 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu) rs786202977 0.00001
NM_000051.4(ATM):c.261A>G (p.Gln87=) rs2078887941 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2637A>G (p.Ile879Met) rs1449494151 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-18A>G rs1555083057 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2639-9T>G rs1457466709 0.00001
NM_000051.4(ATM):c.2647A>G (p.Asn883Asp) rs587782382 0.00001
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe) rs730881351 0.00001
NM_000051.4(ATM):c.2688T>C (p.Leu896=) rs769490863 0.00001
NM_000051.4(ATM):c.2694A>C (p.Leu898Phe) rs774395596 0.00001
NM_000051.4(ATM):c.2698A>G (p.Met900Val) rs138468963 0.00001
NM_000051.4(ATM):c.270G>T (p.Arg90Ser) rs1313014736 0.00001
NM_000051.4(ATM):c.2712G>A (p.Leu904=) rs1409179618 0.00001
NM_000051.4(ATM):c.2716T>C (p.Leu906=) rs368047468 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala) rs1265391373 0.00001
NM_000051.4(ATM):c.2748G>T (p.Val916=) rs1050470790 0.00001
NM_000051.4(ATM):c.2781G>T (p.Leu927Phe) rs770565353 0.00001
NM_000051.4(ATM):c.2786T>C (p.Met929Thr) rs745737218 0.00001
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys) rs56087610 0.00001
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly) rs772054979 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2815A>G (p.Thr939Ala) rs864622606 0.00001
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu) rs1064795896 0.00001
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe) rs1188614092 0.00001
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe) rs3218688 0.00001
NM_000051.4(ATM):c.2829C>A (p.His943Gln) rs1485943190 0.00001
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg) rs565886680 0.00001
NM_000051.4(ATM):c.2838+13A>G rs778502800 0.00001
NM_000051.4(ATM):c.2838+20G>A rs1310769991 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2838+8dup rs1364656453 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 0.00001
NM_000051.4(ATM):c.2839-16C>T rs761953913 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 0.00001
NM_000051.4(ATM):c.2862T>C (p.Leu954=) rs1426256662 0.00001
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu) rs752099312 0.00001
NM_000051.4(ATM):c.2878C>A (p.Pro960Thr) rs876659412 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.2889G>A (p.Met963Ile) rs35098825 0.00001
NM_000051.4(ATM):c.2894A>T (p.Asp965Val) rs876658628 0.00001
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu) rs750093937 0.00001
NM_000051.4(ATM):c.2921+15C>A rs1057521619 0.00001
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe) rs538105098 0.00001
NM_000051.4(ATM):c.2922-20T>G rs768172184 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.292A>C (p.Ser98Arg) rs768318076 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2940T>C (p.Tyr980=) rs748119565 0.00001
NM_000051.4(ATM):c.2968A>G (p.Ile990Val) rs899241025 0.00001
NM_000051.4(ATM):c.2970T>C (p.Ile990=) rs2081569239 0.00001
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe) rs587779831 0.00001
NM_000051.4(ATM):c.2992G>A (p.Val998Met) rs199635238 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3001C>G (p.Leu1001Val) rs377244521 0.00001
NM_000051.4(ATM):c.3003A>G (p.Leu1001=) rs765969190 0.00001
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr) rs1421074475 0.00001
NM_000051.4(ATM):c.301G>A (p.Val101Ile) rs758483894 0.00001
NM_000051.4(ATM):c.3030C>T (p.Asn1010=) rs876660913 0.00001
NM_000051.4(ATM):c.3077+5G>A rs777003996 0.00001
NM_000051.4(ATM):c.3077+8C>G rs752601608 0.00001
NM_000051.4(ATM):c.3077+9del rs2081578007 0.00001
NM_000051.4(ATM):c.3078-11C>T rs756972430 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3099A>G (p.Lys1033=) rs1813895840 0.00001
NM_000051.4(ATM):c.309C>T (p.Tyr103=) rs777499935 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3114A>T (p.Val1038=) rs374451781 0.00001
NM_000051.4(ATM):c.3126A>G (p.Leu1042=) rs770038542 0.00001
NM_000051.4(ATM):c.3132T>C (p.Asn1044=) rs1430714562 0.00001
NM_000051.4(ATM):c.3138T>G (p.Leu1046=) rs3092858 0.00001
NM_000051.4(ATM):c.3147G>T (p.Leu1049Phe) rs1060501686 0.00001
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln) rs774935453 0.00001
NM_000051.4(ATM):c.3153+11G>A rs760086749 0.00001
NM_000051.4(ATM):c.3153+18T>C rs1555085921 0.00001
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00001
NM_000051.4(ATM):c.3154-16A>G rs556888479 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val) rs876660350 0.00001
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=) rs768038217 0.00001
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val) rs761590782 0.00001
NM_000051.4(ATM):c.3189A>G (p.Val1063=) rs76122065 0.00001
NM_000051.4(ATM):c.3190A>G (p.Met1064Val) rs79431304 0.00001
NM_000051.4(ATM):c.3191T>C (p.Met1064Thr) rs1160497775 0.00001
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu) rs762810180 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.3216A>G (p.Glu1072=) rs373699194 0.00001
NM_000051.4(ATM):c.322G>A (p.Ala108Thr) rs730881370 0.00001
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr) rs1302626569 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_000051.4(ATM):c.3283A>C (p.Arg1095=) rs876660302 0.00001
NM_000051.4(ATM):c.3284+6G>C rs1228954245 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3285-19T>C rs749167327 0.00001
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu) rs876658491 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.331+10G>A rs755557468 0.00001
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.3311C>A (p.Ser1104Tyr) rs1555090126 0.00001
NM_000051.4(ATM):c.3314C>T (p.Ser1105Phe) rs141999815 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3330A>G (p.Ala1110=) rs1009383081 0.00001
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val) rs587779832 0.00001
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro) rs876658363 0.00001
NM_000051.4(ATM):c.3333T>G (p.Leu1111=) rs750932338 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met) rs777705500 0.00001
NM_000051.4(ATM):c.3351A>G (p.Gln1117=) rs777375945 0.00001
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser) rs745863765 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.337C>T (p.Pro113Ser) rs1060501678 0.00001
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg) rs587781911 0.00001
NM_000051.4(ATM):c.3402+14A>C rs200494541 0.00001
NM_000051.4(ATM):c.3402+5T>C rs1057520229 0.00001
NM_000051.4(ATM):c.3402+9A>G rs761919506 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 0.00001
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln) rs786203048 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3443A>G (p.Tyr1148Cys) rs773169285 0.00001
NM_000051.4(ATM):c.3453A>G (p.Lys1151=) rs977448999 0.00001
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588 0.00001
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 0.00001
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr) rs372766122 0.00001
NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg) rs749933079 0.00001
NM_000051.4(ATM):c.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys) rs200765255 0.00001
NM_000051.4(ATM):c.3520T>G (p.Phe1174Val) rs547400704 0.00001
NM_000051.4(ATM):c.3521T>C (p.Phe1174Ser) rs1416574870 0.00001
NM_000051.4(ATM):c.3526C>G (p.Leu1176Val) rs1462728109 0.00001
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu) rs1555091359 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3558A>G (p.Glu1186=) rs12786957 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3577-12T>C rs757616718 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu) rs879254024 0.00001
NM_000051.4(ATM):c.3606A>G (p.Gly1202=) rs1189826741 0.00001
NM_000051.4(ATM):c.3608A>G (p.Tyr1203Cys) rs1453849799 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.361T>A (p.Leu121Ile) rs587782178 0.00001
NM_000051.4(ATM):c.3622_3624del (p.Asp1208del) rs2082297886 0.00001
NM_000051.4(ATM):c.3627T>C (p.Phe1209=) rs762605020 0.00001
NM_000051.4(ATM):c.363A>C (p.Leu121Phe) rs774555120 0.00001
NM_000051.4(ATM):c.3645T>A (p.Asp1215Glu) rs1364817146 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.366T>C (p.Asn122=) rs1178025248 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.3679A>G (p.Thr1227Ala) rs1047871047 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.3703C>T (p.Pro1235Ser) rs779095853 0.00001
NM_000051.4(ATM):c.3720C>T (p.Asn1240=) rs1478427829 0.00001
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=) rs772331389 0.00001
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser) rs730881363 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.373A>G (p.Met125Val) rs761137313 0.00001
NM_000051.4(ATM):c.3742T>G (p.Tyr1248Asp) rs1180341161 0.00001
NM_000051.4(ATM):c.3746+12C>A rs768841674 0.00001
NM_000051.4(ATM):c.3746+17C>T rs1057520850 0.00001
NM_000051.4(ATM):c.3747-16A>G rs1555093241 0.00001
NM_000051.4(ATM):c.3747-8A>G rs569612113 0.00001
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=) rs886039637 0.00001
NM_000051.4(ATM):c.3768T>G (p.Ile1256Met) rs765538231 0.00001
NM_000051.4(ATM):c.3771A>C (p.Pro1257=) rs1057523320 0.00001
NM_000051.4(ATM):c.37C>T (p.Arg13Cys) rs141586345 0.00001
NM_000051.4(ATM):c.3802G>A (p.Val1268Met) rs863224564 0.00001
NM_000051.4(ATM):c.3817A>G (p.Asn1273Asp) rs876660767 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe) rs2082378278 0.00001
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp) rs587781787 0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3857G>T (p.Cys1286Phe) rs876660770 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3918T>C (p.Ser1306=) rs139632347 0.00001
NM_000051.4(ATM):c.3921G>A (p.Gly1307=) rs969461745 0.00001
NM_000051.4(ATM):c.3951G>A (p.Lys1317=) rs1485996895 0.00001
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe) rs587778074 0.00001
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg) rs876658669 0.00001
NM_000051.4(ATM):c.3993+3A>G rs771789242 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser) rs1064793805 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4001A>G (p.His1334Arg) rs780865776 0.00001
NM_000051.4(ATM):c.400G>A (p.Gly134Ser) rs2234998 0.00001
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn) rs1060501660 0.00001
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly) rs958750512 0.00001
NM_000051.4(ATM):c.401G>A (p.Gly134Asp) rs771166271 0.00001
NM_000051.4(ATM):c.4023A>T (p.Pro1341=) rs1020202983 0.00001
NM_000051.4(ATM):c.4032G>C (p.Val1344=) rs769871715 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4055A>G (p.His1352Arg) rs925124248 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly) rs1176020475 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4101C>T (p.Asp1367=) rs587780623 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4109+10T>C rs1236628481 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.4109+9A>C rs730881289 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.4110-9C>A rs730881367 0.00001
NM_000051.4(ATM):c.4114T>C (p.Leu1372=) rs762242838 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser) rs749215545 0.00001
NM_000051.4(ATM):c.412G>A (p.Gly138Arg) rs150661813 0.00001
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser) rs1555096828 0.00001
NM_000051.4(ATM):c.4144C>T (p.Pro1382Ser) rs55859590 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522 0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu) rs1064794484 0.00001
NM_000051.4(ATM):c.4179C>G (p.Ile1393Met) rs775688446 0.00001
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn) rs786203761 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4210A>G (p.Ile1404Val) rs786201832 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4236+11A>G rs368684533 0.00001
NM_000051.4(ATM):c.4236+12T>C rs369996463 0.00001
NM_000051.4(ATM):c.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.4237-13G>A rs778685615 0.00001
NM_000051.4(ATM):c.4237-18A>G rs756842639 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.4305G>A (p.Lys1435=) rs763567469 0.00001
NM_000051.4(ATM):c.4321A>C (p.Ile1441Leu) rs774886013 0.00001
NM_000051.4(ATM):c.432A>G (p.Ile144Met) rs772173522 0.00001
NM_000051.4(ATM):c.433C>T (p.Leu145=) rs587782328 0.00001
NM_000051.4(ATM):c.4356T>C (p.Asp1452=) rs1283294799 0.00001
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg) rs587782126 0.00001
NM_000051.4(ATM):c.4359A>T (p.Ile1453=) rs1213190389 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4371A>C (p.Leu1457Phe) rs765713557 0.00001
NM_000051.4(ATM):c.4398A>G (p.Arg1466=) rs142728382 0.00001
NM_000051.4(ATM):c.439A>G (p.Lys147Glu) rs587782509 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4417A>G (p.Ile1473Val) rs1565456980 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4431C>A (p.Asn1477Lys) rs571989748 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-12T>C rs772888878 0.00001
NM_000051.4(ATM):c.4437-13dup rs1555099701 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 0.00001
NM_000051.4(ATM):c.4439C>T (p.Pro1480Leu) rs200456625 0.00001
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe) rs863224572 0.00001
NM_000051.4(ATM):c.4447A>G (p.Ile1483Val) rs1281685502 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4467T>C (p.Arg1489=) rs746296827 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu) rs587781944 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.4500G>A (p.Gln1500=) rs1345605814 0.00001
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile) rs370574283 0.00001
NM_000051.4(ATM):c.450T>A (p.Leu150=) rs1168425290 0.00001
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala) rs767466937 0.00001
NM_000051.4(ATM):c.4515C>T (p.Ala1505=) rs540798997 0.00001
NM_000051.4(ATM):c.4518G>A (p.Val1506=) rs1057524110 0.00001
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile) rs1064793811 0.00001
NM_000051.4(ATM):c.4529A>G (p.Lys1510Arg) rs1208799683 0.00001
NM_000051.4(ATM):c.4546C>T (p.His1516Tyr) rs1389372050 0.00001
NM_000051.4(ATM):c.4549C>T (p.Leu1517Phe) rs754058482 0.00001
NM_000051.4(ATM):c.4551T>A (p.Leu1517=) rs1459998980 0.00001
NM_000051.4(ATM):c.4553A>C (p.His1518Pro) rs762132832 0.00001
NM_000051.4(ATM):c.4559T>C (p.Ile1520Thr) rs375654664 0.00001
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu) rs141329176 0.00001
NM_000051.4(ATM):c.4569A>G (p.Thr1523=) rs1555099963 0.00001
NM_000051.4(ATM):c.456G>T (p.Val152=) rs1555059433 0.00001
NM_000051.4(ATM):c.4574T>C (p.Ile1525Thr) rs755274980 0.00001
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr) rs748898098 0.00001
NM_000051.4(ATM):c.4577C>A (p.Pro1526His) rs770590652 0.00001
NM_000051.4(ATM):c.4611+19T>C rs776602821 0.00001
NM_000051.4(ATM):c.4611+9C>G rs760704159 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4615T>C (p.Leu1539=) rs976206782 0.00001
NM_000051.4(ATM):c.4618G>T (p.Asp1540Tyr) rs778622948 0.00001
NM_000051.4(ATM):c.4629A>G (p.Lys1543=) rs745565564 0.00001
NM_000051.4(ATM):c.4630T>C (p.Tyr1544His) rs771554153 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu) rs537377433 0.00001
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432 0.00001
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter) rs766438805 0.00001
NM_000051.4(ATM):c.4677T>A (p.Ile1559=) rs759660081 0.00001
NM_000051.4(ATM):c.4678A>G (p.Lys1560Glu) rs767981230 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4716G>C (p.Lys1572Asn) rs786203953 0.00001
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala) rs786202473 0.00001
NM_000051.4(ATM):c.475A>G (p.Ile159Val) rs1565357315 0.00001
NM_000051.4(ATM):c.4761C>T (p.Pro1587=) rs769562370 0.00001
NM_000051.4(ATM):c.4770C>T (p.Leu1590=) rs749475519 0.00001
NM_000051.4(ATM):c.4773G>C (p.Leu1591Phe) rs1345760669 0.00001
NM_000051.4(ATM):c.4776+15A>C rs759607134 0.00001
NM_000051.4(ATM):c.4777-15C>T rs1057521023 0.00001
NM_000051.4(ATM):c.4777-3T>C rs1468242174 0.00001
NM_000051.4(ATM):c.4777-4T>C rs756025941 0.00001
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00001
NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr) rs777812804 0.00001
NM_000051.4(ATM):c.478T>C (p.Ser160Pro) rs761170769 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4816C>G (p.Leu1606Val) rs746103632 0.00001
NM_000051.4(ATM):c.4821A>G (p.Pro1607=) rs786203559 0.00001
NM_000051.4(ATM):c.4822T>C (p.Leu1608=) rs775464644 0.00001
NM_000051.4(ATM):c.4826C>G (p.Thr1609Arg) rs1316363133 0.00001
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr) rs2083038225 0.00001
NM_000051.4(ATM):c.4849C>G (p.Leu1617Val) rs1006483748 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) rs765759912 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu) rs786203857 0.00001
NM_000051.4(ATM):c.4881G>T (p.Gln1627His) rs1374689246 0.00001
NM_000051.4(ATM):c.488A>G (p.Gln163Arg) rs876660598 0.00001
NM_000051.4(ATM):c.48A>G (p.Glu16=) rs774768437 0.00001
NM_000051.4(ATM):c.4909+1G>A rs756987454 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu) rs752459491 0.00001
NM_000051.4(ATM):c.493T>C (p.Leu165=) rs878853514 0.00001
NM_000051.4(ATM):c.4947C>T (p.Val1649=) rs1436324961 0.00001
NM_000051.4(ATM):c.496+16T>G rs776924718 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581 0.00001
NM_000051.4(ATM):c.497-14_497-13insC rs776788385 0.00001
NM_000051.4(ATM):c.497-1G>A rs778624615 0.00001
NM_000051.4(ATM):c.497-4T>A rs876659621 0.00001
NM_000051.4(ATM):c.4972G>A (p.Ala1658Thr) rs372679141 0.00001
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val) rs778632065 0.00001
NM_000051.4(ATM):c.4977A>T (p.Ile1659=) rs199888434 0.00001
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala) rs1457261046 0.00001
NM_000051.4(ATM):c.5005+13C>T rs1192513529 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.5006-3T>C rs761297488 0.00001
NM_000051.4(ATM):c.5014G>A (p.Gly1672Arg) rs1330898827 0.00001
NM_000051.4(ATM):c.5032G>A (p.Val1678Met) rs1299754311 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5049C>A (p.Phe1683Leu) rs1183084231 0.00001
NM_000051.4(ATM):c.5054C>T (p.Thr1685Ile) rs879254191 0.00001
NM_000051.4(ATM):c.5055C>T (p.Thr1685=) rs587780551 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5057T>C (p.Ile1686Thr) rs878853517 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.506C>G (p.Ser169Cys) rs587779843 0.00001
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn) rs767841041 0.00001
NM_000051.4(ATM):c.5079T>C (p.Asp1693=) rs753036834 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser) rs1291016764 0.00001
NM_000051.4(ATM):c.5136C>T (p.Phe1712=) rs786203371 0.00001
NM_000051.4(ATM):c.5138T>C (p.Ile1713Thr) rs1199544303 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5157T>C (p.Asn1719=) rs786203254 0.00001
NM_000051.4(ATM):c.5164C>T (p.Leu1722=) rs1255639252 0.00001
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly) rs770882126 0.00001
NM_000051.4(ATM):c.5177+3G>A rs774216164 0.00001
NM_000051.4(ATM):c.5178-10T>A rs1565476613 0.00001
NM_000051.4(ATM):c.5178T>G (p.Cys1726Trp) rs1446243372 0.00001
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg) rs1060501613 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5195C>G (p.Ala1732Gly) rs1565476801 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5218A>G (p.Ile1740Val) rs1358200819 0.00001
NM_000051.4(ATM):c.5220T>A (p.Ile1740=) rs1452225772 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.522C>G (p.Leu174=) rs780173724 0.00001
NM_000051.4(ATM):c.5233A>C (p.Thr1745Pro) rs587782532 0.00001
NM_000051.4(ATM):c.5250G>T (p.Trp1750Cys) rs587779845 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.526C>G (p.Leu176Val) rs375798802 0.00001
NM_000051.4(ATM):c.5271A>G (p.Thr1757=) rs1555105759 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter) rs2083444895 0.00001
NM_000051.4(ATM):c.5310A>G (p.Ser1770=) rs1060504282 0.00001
NM_000051.4(ATM):c.5319+20T>C rs775616416 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5319+7T>A rs925428128 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5320-4C>G rs1316146972 0.00001
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val) rs768820804 0.00001
NM_000051.4(ATM):c.5324T>C (p.Leu1775Ser) rs1256064321 0.00001
NM_000051.4(ATM):c.5335A>G (p.Arg1779Gly) rs1176642734 0.00001
NM_000051.4(ATM):c.5345A>G (p.Lys1782Arg) rs878853520 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5355T>G (p.Pro1785=) rs1025083720 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5382G>A (p.Leu1794=) rs188362115 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val) rs199885813 0.00001
NM_000051.4(ATM):c.5443G>A (p.Asp1815Asn) rs933604666 0.00001
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg) rs562930561 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg) rs1565479465 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5497-10T>C rs1457831101 0.00001
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala) rs1034908940 0.00001
NM_000051.4(ATM):c.5524C>A (p.Leu1842Ile) rs956546711 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.5536A>G (p.Ile1846Val) rs587779849 0.00001
NM_000051.4(ATM):c.5544T>C (p.Asp1848=) rs146568734 0.00001
NM_000051.4(ATM):c.554T>C (p.Val185Ala) rs730881335 0.00001
NM_000051.4(ATM):c.5553C>G (p.Leu1851=) rs786201126 0.00001
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg) rs138710254 0.00001
NM_000051.4(ATM):c.5595T>C (p.His1865=) rs772261410 0.00001
NM_000051.4(ATM):c.5613C>T (p.Thr1871=) rs2083601650 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu) rs751327903 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 0.00001
NM_000051.4(ATM):c.5635C>A (p.Gln1879Lys) rs756109905 0.00001
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met) rs587780628 0.00001
NM_000051.4(ATM):c.5640G>A (p.Thr1880=) rs757103582 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5661A>G (p.Ala1887=) rs876658939 0.00001
NM_000051.4(ATM):c.566G>C (p.Arg189Thr) rs79075295 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5675-10T>G rs377599533 0.00001
NM_000051.4(ATM):c.5685C>A (p.His1895Gln) rs889445709 0.00001
NM_000051.4(ATM):c.5688T>C (p.Phe1896=) rs2083815927 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu) rs765027485 0.00001
NM_000051.4(ATM):c.5718A>G (p.Gln1906=) rs863224293 0.00001
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile) rs143577586 0.00001
NM_000051.4(ATM):c.573T>A (p.Ile191=) rs775003417 0.00001
NM_000051.4(ATM):c.5746A>G (p.Met1916Val) rs910274159 0.00001
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr) rs1060501557 0.00001
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00001
NM_000051.4(ATM):c.5762+19C>T rs1170960696 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.591A>T (p.Gly197=) rs587780630 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.5G>A (p.Ser2Asn) rs730881360 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.640T>C (p.Ser214Pro) rs747053710 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.655T>C (p.Cys219Arg) rs771685059 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.663-19C>G rs1044060944 0.00001
NM_000051.4(ATM):c.663-8C>A rs1060501661 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.672G>T (p.Lys224Asn) rs769731317 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.680C>T (p.Ser227Leu) rs762998620 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.692A>G (p.His231Arg) rs587782229 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.69A>G (p.Arg23=) rs876659304 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.702A>G (p.Ala234=) rs752751588 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.709A>G (p.Thr237Ala) rs376529329 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.712A>G (p.Ile238Val) rs754275014 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.713T>C (p.Ile238Thr) rs149116878 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.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu) rs747372355 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile) rs567457294 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 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.722A>G (p.Lys241Arg) rs1021907990 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.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu) rs864622563 0.00001
NM_000051.4(ATM):c.73-14C>G rs766284348 0.00001
NM_000051.4(ATM):c.73-15C>A rs1216989217 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.738C>G (p.Asn246Lys) rs1335108218 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.742C>T (p.Arg248Ter) rs730881336 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.753G>A (p.Val251=) rs876658806 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.754T>A (p.Cys252Ser) rs863224580 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.762A>G (p.Leu254=) rs1313709939 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.76G>C (p.Glu26Gln) rs730881361 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.787C>T (p.Leu263Phe) rs876659531 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.78A>T (p.Glu26Asp) rs786202953 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.79G>A (p.Val27Ile) rs754770960 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.804A>G (p.Gln268=) rs2079766818 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.811C>A (p.Leu271Ile) rs730881339 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.829G>T (p.Glu277Ter) rs876660933 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.834C>T (p.Val278=) rs2079769316 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.839T>C (p.Ile280Thr) rs587782080 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.858A>G (p.Gln286=) rs145301478 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.86A>C (p.Lys29Thr) rs147009251 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.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 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.884C>A (p.Ala295Asp) rs1044092081 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.887A>C (p.Lys296Thr) rs1064795297 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.901+12A>G rs759379354 0.00001
NM_000051.4(ATM):c.901+7A>G rs1057523569 0.00001
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val) rs1319582645 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000051.4(ATM):c.902-4A>G rs1416161750 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.912A>G (p.Glu304=) rs1286754263 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.931A>G (p.Ile311Val) rs876658322 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000051.4(ATM):c.947A>G (p.Tyr316Cys) rs1340280916 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.4(ATM):c.958G>A (p.Val320Met) rs1060501655 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000051.4(ATM):c.976A>T (p.Ile326Leu) rs1555068422 0.00001
NM_000051.4(ATM):c.977T>C (p.Ile326Thr) rs768720856 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000051.4(ATM):c.989G>C (p.Gly330Ala) rs762179829 0.00001
NM_000051.4(ATM):c.993G>A (p.Lys331=) rs786202048 0.00001
NM_000051.4(ATM):c.996T>C (p.Tyr332=) rs1476261420 0.00001
GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0
NC_000011.10:g.(?_108121587)_(108365528_?)dup
NC_000011.10:g.(?_108221832)_(108370099_?)del
NC_000011.10:g.(?_108222832)_(108369099_?)del
NC_000011.10:g.(?_108223043)_(108249112_?)del
NC_000011.10:g.(?_108227615)_(108229333_?)del
NC_000011.10:g.(?_108227615)_(108259085_?)dup
NC_000011.10:g.(?_108227615)_(108365518_?)del
NC_000011.10:g.(?_108227619)_(108227894_?)del
NC_000011.10:g.(?_108227625)_(108245036_?)del
NC_000011.10:g.(?_108227625)_(108365508_?)del
NC_000011.10:g.(?_108235660)_(108284483_?)del
NC_000011.10:g.(?_108235664)_(108235840_?)del
NC_000011.10:g.(?_108243943)_(108249112_?)del
NC_000011.10:g.(?_108243943)_(108365518_?)del
NC_000011.10:g.(?_108243953)_(108369099_?)del
NC_000011.10:g.(?_108244778)_(108365518_?)dup
NC_000011.10:g.(?_108246954)_(108247137_?)del
NC_000011.10:g.(?_108246954)_(108289811_?)dup
NC_000011.10:g.(?_108248923)_(108249112_?)del
NC_000011.10:g.(?_108248923)_(108272862_?)del
NC_000011.10:g.(?_108250691)_(108254049_?)del
NC_000011.10:g.(?_108250691)_(108257616_?)del
NC_000011.10:g.(?_108256205)_(108365508_?)dup
NC_000011.10:g.(?_108257471)_(108259085_?)del
NC_000011.10:g.(?_108258976)_(108335971_?)dup
NC_000011.10:g.(?_108267161)_(108268619_?)del
NC_000011.10:g.(?_108267161)_(108272862_?)del
NC_000011.10:g.(?_108267161)_(108307994_?)del
NC_000011.10:g.(?_108267161)_(108365518_?)del
NC_000011.10:g.(?_108267165)_(108365514_?)del
NC_000011.10:g.(?_108272522)_(108282889_?)dup
NC_000011.10:g.(?_108279481)_(108281178_?)del
NC_000011.10:g.(?_108280985)_(108287725_?)del
NC_000011.10:g.(?_108280985)_(108365518_?)del
NC_000011.10:g.(?_108280995)_(108289801_?)del
NC_000011.10:g.(?_108282700)_(108287725_?)del
NC_000011.10:g.(?_108284217)_(108284483_?)dup
NC_000011.10:g.(?_108289582)_(108289821_?)del
NC_000011.10:g.(?_108289592)_(108289811_?)del
NC_000011.10:g.(?_108289602)_(108289801_?)del
NC_000011.10:g.(?_108292609)_(108293487_?)del
NC_000011.10:g.(?_108292619)_(108299885_?)del
NC_000011.10:g.(?_108294917)_(108295069_?)dup
NC_000011.10:g.(?_108297277)_(108297392_?)dup
NC_000011.10:g.(?_108297287)_(108335961_?)del
NC_000011.10:g.(?_108299704)_(108304862_?)del
NC_000011.10:g.(?_108307887)_(108365508_?)del
NC_000011.10:g.(?_108317363)_(108317531_?)del
NC_000011.10:g.(?_108325300)_(108347375_?)del
NC_000011.10:g.(?_108325300)_(108365508_?)del
NC_000011.10:g.(?_108325310)_(108369099_?)del
NC_000011.10:g.(?_108327635)_(108331567_?)del
NC_000011.10:g.(?_108327645)_(108331557_?)del
NC_000011.10:g.(?_108331434)_(108335971_?)dup
NC_000011.10:g.(?_108332752)_(108354884_?)dup
NC_000011.10:g.(?_108334959)_(108354884_?)del
NC_000011.10:g.(?_108334963)_(108354880_?)del
NC_000011.10:g.(?_108335835)_(108365508_?)dup
NC_000011.10:g.(?_108335835)_(108365518_?)dup
NC_000011.10:g.(?_108335912)_(108340340_?)del
NC_000011.10:g.(?_108343212)_(108354884_?)dup
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.(?_108353756)_(108354884_?)del
NC_000011.10:g.(?_108364109)_(108365518_?)del
NC_000011.10:g.(?_108364109)_(108365528_?)del
NC_000011.10:g.(?_108365010)_(108365542_?)del
NC_000011.10:g.(?_108365072)_(108365508_?)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.108151767_108183227del
NC_000011.10:g.108222768C>T rs1056339095
NC_000011.10:g.108246997_108246998insAlu
NC_000011.10:g.108271077_108271078insTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATCTAATGCTTTT rs2135547194
NC_000011.10:g.108272532del rs2135564943
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NC_000011.9:g.(?_107992314)_108236255del
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NC_000011.9:g.(?_108093770)_(108098625_?)del
NC_000011.9:g.(?_108093770)_(108100060_?)del
NC_000011.9:g.(?_108093770)_(108114855_?)del
NC_000011.9:g.(?_108093770)_(108164214_?)del
NC_000011.9:g.(?_108093770)_108128343del
NC_000011.9:g.(?_108098171)_(108124564_?)del
NC_000011.9:g.(?_108098342)_(108098625_?)del
NC_000011.9:g.(?_108098342)_(108117864_?)dup
NC_000011.9:g.(?_108098342)_(108158452_?)dup
NC_000011.9:g.(?_108098342)_(108236245_?)dup
NC_000011.9:g.(?_108098346)_(108138075_?)del
NC_000011.9:g.(?_108098346)_(108151901_?)dup
NC_000011.9:g.(?_108098346)_(108236241_?)del
NC_000011.9:g.(?_108098346)_(108236241_?)dup
NC_000011.9:g.(?_108098352)_(108098615_?)del
NC_000011.9:g.(?_108098352)_(108098625_?)dup
NC_000011.9:g.(?_108098352)_(108100060_?)del
NC_000011.9:g.(?_108098352)_(108106571_?)dup
NC_000011.9:g.(?_108098352)_(108117864_?)dup
NC_000011.9:g.(?_108098352)_(108124786_?)del
NC_000011.9:g.(?_108098352)_(108128343_?)del
NC_000011.9:g.(?_108098352)_(108129822_?)del
NC_000011.9:g.(?_108098352)_(108164214_?)del
NC_000011.9:g.(?_108098352)_(108216655_?)dup
NC_000011.9:g.(?_108098352)_(108236235_?)dup
NC_000011.9:g.(?_108099885)_(108225621_?)del
NC_000011.9:g.(?_108099886)_(108143599_?)del
NC_000011.9:g.(?_108099895)_(108119839_?)dup
NC_000011.9:g.(?_108101030)_(108121474_?)del
NC_000011.9:g.(?_108106377)_(108143599_?)dup
NC_000011.9:g.(?_108106377)_(108236235_?)dup
NC_000011.9:g.(?_108106387)_(108106571_?)del
NC_000011.9:g.(?_108106387)_(108119839_?)dup
NC_000011.9:g.(?_108106387)_(108236235_?)dup
NC_000011.9:g.(?_108111148)_(108117795_?)del
NC_000011.9:g.(?_108114117)_(108115618_?)del
NC_000011.9:g.(?_108114660)_(108181062_?)del
NC_000011.9:g.(?_108114660)_(108236235_?)del
NC_000011.9:g.(?_108114662)_(108114855_?)del
NC_000011.9:g.(?_108114662)_(108115763_?)del
NC_000011.9:g.(?_108114670)_(108164214_?)del
NC_000011.9:g.(?_108114670)_(108225611_?)dup
NC_000011.9:g.(?_108114670)_(108236235_?)dup
NC_000011.9:g.(?_108114674)_(108225607_?)dup
NC_000011.9:g.(?_108115509)_(108236241_?)dup
NC_000011.9:g.(?_108115586)_(108118919_?)del
NC_000011.9:g.(?_108117671)_(108160548_?)dup
NC_000011.9:g.(?_108124463)_(108126942_?)del
NC_000011.9:g.(?_108124486)_(108225611_?)del
NC_000011.9:g.(?_108126932)_(108129812_?)del
NC_000011.9:g.(?_108126936)_(108129808_?)dup
NC_000011.9:g.(?_108126936)_(108236241_?)dup
NC_000011.9:g.(?_108137888)_(108155210_?)del
NC_000011.9:g.(?_108137888)_(108225611_?)dup
NC_000011.9:g.(?_108137888)_(108236245_?)dup
NC_000011.9:g.(?_108141210)_(108143589_?)del
NC_000011.9:g.(?_108141781)_(108158452_?)del
NC_000011.9:g.(?_108143253)_(108153612_?)dup
NC_000011.9:g.(?_108150208)_(108225611_?)dup
NC_000011.9:g.(?_108150212)_(108216641_?)del
NC_000011.9:g.(?_108150557)_(108153493_?)del
NC_000011.9:g.(?_108151710)_(108160538_?)del
NC_000011.9:g.(?_108151710)_(108192157_?)dup
NC_000011.9:g.(?_108153427)_(108160538_?)del
NC_000011.9:g.(?_108153427)_(108236235_?)del
NC_000011.9:g.(?_108154944)_(108155210_?)del
NC_000011.9:g.(?_108155171)_(108204924_?)del
NC_000011.9:g.(?_108156908)_(108160358_?)del
NC_000011.9:g.(?_108156908)_108160358del
NC_000011.9:g.(?_108158168)_(108160538_?)del
NC_000011.9:g.(?_108159694)_(108160538_?)del
NC_000011.9:g.(?_108163336)_(108165796_?)del
NC_000011.9:g.(?_108163336)_(108170622_?)del
NC_000011.9:g.(?_108163340)_(108170618_?)del
NC_000011.9:g.(?_108164020)_(108236235_?)del
NC_000011.9:g.(?_108168008)_(108206694_?)del
NC_000011.9:g.(?_108170431)_(108170622_?)del
NC_000011.9:g.(?_108170431)_(108206698_?)del
NC_000011.9:g.(?_108170929)_(108196046_?)del
NC_000011.9:g.(?_108172365)_(108175589_?)del
NC_000011.9:g.(?_108172365)_(108236235_?)dup
NC_000011.9:g.(?_108172365)_(108236245_?)dup
NC_000011.9:g.(?_108173570)_(108175589_?)del
NC_000011.9:g.(?_108178614)_(108178721_?)del
NC_000011.9:g.(?_108178614)_(108183235_?)dup
NC_000011.9:g.(?_108178614)_(108188258_?)del
NC_000011.9:g.(?_108178618)_(108236241_?)del
NC_000011.9:g.(?_108180877)_(108181052_?)del
NC_000011.9:g.(?_108183089)_(108186850_?)del
NC_000011.9:g.(?_108183089)_(108225611_?)dup
NC_000011.9:g.(?_108186540)_(108188258_?)del
NC_000011.9:g.(?_108186540)_(108196962_?)del
NC_000011.9:g.(?_108186540)_(108218102_?)del
NC_000011.9:g.(?_108190671)_(108190795_?)dup
NC_000011.9:g.(?_108190671)_(108225611_?)del
NC_000011.9:g.(?_108190675)_(108190791_?)del
NC_000011.9:g.(?_108196027)_(108196281_?)del
NC_000011.9:g.(?_108196027)_(108199975_?)del
NC_000011.9:g.(?_108198469)_(108225601_?)dup
NC_000011.9:g.(?_108200931)_(108236235_?)del
NC_000011.9:g.(?_108204603)_(108204705_?)del
NC_000011.9:g.(?_108205686)_(108236245_?)dup
NC_000011.9:g.(?_108205690)_(108236241_?)dup
NC_000011.9:g.(?_108206566)_(108206694_?)del
NC_000011.9:g.(?_108206566)_(108236241_?)dup
NC_000011.9:g.(?_108213939)_(108218102_?)del
NC_000011.9:g.(?_108213939)_(108225611_?)del
NC_000011.9:g.(?_108213939)_(108236235_?)del
NC_000011.9:g.(?_108213939)_(108236235_?)dup
NC_000011.9:g.(?_108215207)_(108216339_?)del
NC_000011.9:g.(?_108217996)_(108218102_?)del
NC_000011.9:g.(?_108224473)_(108332286_?)del
NC_000011.9:g.(?_108225592)_(108229424_?)del
NC_000011.9:g.(?_108235789)_(108236235_?)dup
NC_000011.9:g.(?_108235810)_108237715del
NC_000011.9:g.(?_94153285)_(111965700_?)del
NC_000011.9:g.108163403_108163404insLINE
NG_009830.1:g.(41245_49339)_(137044_147250)dup
NM_000051.3(ATM):c.(?_-1)_4109+?dup
NM_000051.3(ATM):c.-222T>A rs557953523
NM_000051.3(ATM):c.-235delC rs886047607
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.3(ATM):c.2467-?_8850+?dup6384
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2839-?_4109+?del
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.3403-?_*(1_?)del
NM_000051.3(ATM):c.5902_5903insSVAelement rs2084039379
NM_000051.3(ATM):c.8269-?_8671+?del
NM_000051.3(ATM):c.8851-?_*3591dup3912
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
NM_000051.3:c.8844_8845insLINE1
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.-111_-109delinsAC rs1555051087
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.-31+595G>A rs1555051574
NM_000051.4(ATM):c.-74G>A rs3205808
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu) rs1440510829
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys) rs1018587967
NM_000051.4(ATM):c.1008T>C (p.Phe336=) rs1555068492
NM_000051.4(ATM):c.1008T>G (p.Phe336Leu) rs1555068492
NM_000051.4(ATM):c.1008del (p.Arg337fs) rs2079886452
NM_000051.4(ATM):c.1009C>A (p.Arg337Ser) rs138398778
NM_000051.4(ATM):c.100A>G (p.Ile34Val) rs1555054094
NM_000051.4(ATM):c.1010G>T (p.Arg337Leu) rs202160435
NM_000051.4(ATM):c.1012A>C (p.Asn338His) rs751800302
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp) rs751800302
NM_000051.4(ATM):c.1014T>A (p.Asn338Lys)
NM_000051.4(ATM):c.1014T>C (p.Asn338=) rs1555068510
NM_000051.4(ATM):c.1015A>G (p.Ile339Val) rs876659567
NM_000051.4(ATM):c.1016T>C (p.Ile339Thr) rs2079887536
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1018G>A (p.Ala340Thr)
NM_000051.4(ATM):c.1018G>T (p.Ala340Ser)
NM_000051.4(ATM):c.1019C>A (p.Ala340Asp) rs730881387
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly) rs730881387
NM_000051.4(ATM):c.1019C>T (p.Ala340Val) rs730881387
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg) rs1064794119
NM_000051.4(ATM):c.1027G>A (p.Glu343Lys) rs2135268427
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.102T>A (p.Ile34=) rs2135011891
NM_000051.4(ATM):c.1030A>G (p.Asn344Asp)
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr) rs587782526
NM_000051.4(ATM):c.1034T>C (p.Leu345Ser)
NM_000051.4(ATM):c.1035G>A (p.Leu345=) rs2135268584
NM_000051.4(ATM):c.1036A>G (p.Ile346Val) rs1565375699
NM_000051.4(ATM):c.1036del (p.Ile346fs) rs1565375710
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn) rs1060501526
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs) rs2135268548
NM_000051.4(ATM):c.1038T>G (p.Ile346Met) rs749950833
NM_000051.4(ATM):c.1039G>C (p.Glu347Gln) rs529202615
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1041A>C (p.Glu347Asp)
NM_000051.4(ATM):c.1041A>G (p.Glu347=) rs2135268758
NM_000051.4(ATM):c.1041A>T (p.Glu347Asp)
NM_000051.4(ATM):c.1042T>C (p.Leu348=) rs746733866
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser) rs2079890107
NM_000051.4(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe) rs879254039
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs) rs2079890365
NM_000051.4(ATM):c.1045A>T (p.Met349Leu)
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1046T>C (p.Met349Thr) rs1555068577
NM_000051.4(ATM):c.1046T>G (p.Met349Arg) rs1555068577
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr) rs371713984
NM_000051.4(ATM):c.1050A>G (p.Ala350=) rs1591511442
NM_000051.4(ATM):c.1051G>C (p.Asp351His) rs876659092
NM_000051.4(ATM):c.1052A>C (p.Asp351Ala)
NM_000051.4(ATM):c.1052A>G (p.Asp351Gly) rs1057521618
NM_000051.4(ATM):c.1052A>T (p.Asp351Val) rs1057521618
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1054_1055del (p.Ile352fs)
NM_000051.4(ATM):c.1056C>G (p.Ile352Met) rs1555068605
NM_000051.4(ATM):c.1056C>T (p.Ile352=) rs1555068605
NM_000051.4(ATM):c.1057T>C (p.Cys353Arg) rs2135269388
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr) rs1591511538
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.4(ATM):c.105A>G (p.Arg35=)
NM_000051.4(ATM):c.1060C>T (p.His354Tyr) rs2079892237
NM_000051.4(ATM):c.1062C>T (p.His354=) rs773365379
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.4(ATM):c.1064A>G (p.Gln355Arg) rs2079892563
NM_000051.4(ATM):c.1065+10G>A rs1591511658
NM_000051.4(ATM):c.1065+11T>C
NM_000051.4(ATM):c.1065+13G>A rs2135270116
NM_000051.4(ATM):c.1065+13G>C
NM_000051.4(ATM):c.1065+14G>A rs2135270151
NM_000051.4(ATM):c.1065+17A>G rs373230921
NM_000051.4(ATM):c.1065+18T>C
NM_000051.4(ATM):c.1065+19G>A
NM_000051.4(ATM):c.1065+1G>A rs201089102
NM_000051.4(ATM):c.1065+1G>C rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1065+20T>C
NM_000051.4(ATM):c.1065+2T>C
NM_000051.4(ATM):c.1065+3A>G rs1282724169
NM_000051.4(ATM):c.1065+4C>T rs1591511595
NM_000051.4(ATM):c.1065+4del rs2135269839
NM_000051.4(ATM):c.1065+5A>C rs1204741025
NM_000051.4(ATM):c.1065+5A>T rs1204741025
NM_000051.4(ATM):c.1065+8A>C rs2135270000
NM_000051.4(ATM):c.1065+9A>G
NM_000051.4(ATM):c.1065+9_1065+12del rs1486083030
NM_000051.4(ATM):c.1065+9del
NM_000051.4(ATM):c.1065G>A (p.Gln355=)
NM_000051.4(ATM):c.1066-10T>C rs2135289561
NM_000051.4(ATM):c.1066-16T>C
NM_000051.4(ATM):c.1066-16_1066-10del
NM_000051.4(ATM):c.1066-19A>T
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-1G>T rs876660038
NM_000051.4(ATM):c.1066-1_1081del rs2135289838
NM_000051.4(ATM):c.1066-2A>C rs1555069514
NM_000051.4(ATM):c.1066-2A>G
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3C>T rs1565378708
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1066-9A>G rs774334532
NM_000051.4(ATM):c.1066G>A (p.Val356Ile) rs2079987798
NM_000051.4(ATM):c.1068T>C (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1070T>C (p.Phe357Ser) rs2135290032
NM_000051.4(ATM):c.1071T>C (p.Phe357=) rs1057521608
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1074T>C (p.Asn358=) rs2135290159
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys) rs2079988487
NM_000051.4(ATM):c.1078del (p.Asp360fs) rs2135290302
NM_000051.4(ATM):c.1079A>T (p.Asp360Val) rs775767808
NM_000051.4(ATM):c.107A>C (p.Asp36Ala) rs1488019755
NM_000051.4(ATM):c.107A>G (p.Asp36Gly) rs1488019755
NM_000051.4(ATM):c.1080T>C (p.Asp360=) rs199869975
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1082C>G (p.Thr361Ser) rs1565378803
NM_000051.4(ATM):c.1083C>T (p.Thr361=) rs1555069552
NM_000051.4(ATM):c.1084A>C (p.Arg362=)
NM_000051.4(ATM):c.1084A>G (p.Arg362Gly) rs1591517251
NM_000051.4(ATM):c.1086A>G (p.Arg362=) rs142591268
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.4(ATM):c.1089C>G (p.Ser363=)
NM_000051.4(ATM):c.1089C>T (p.Ser363=) rs1555069567
NM_000051.4(ATM):c.1089del (p.Leu364fs)
NM_000051.4(ATM):c.1090T>G (p.Leu364Val) rs764821887
NM_000051.4(ATM):c.1091T>C (p.Leu364Ser) rs1555069575
NM_000051.4(ATM):c.1092_1235+363del rs1591517314
NM_000051.4(ATM):c.1092_1235+363delinsCTT
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.4(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro) rs879254236
NM_000051.4(ATM):c.10G>T (p.Val4Leu) rs1438588853
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr) rs2079990831
NM_000051.4(ATM):c.1100C>T (p.Ser367Phe) rs2079990831
NM_000051.4(ATM):c.1101T>A (p.Ser367=)
NM_000051.4(ATM):c.1101T>C (p.Ser367=)
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.4(ATM):c.1102_1107del (p.Gln368_Ser369del) rs2079990728
NM_000051.4(ATM):c.1103A>G (p.Gln368Arg)
NM_000051.4(ATM):c.1104A>C (p.Gln368His) rs560691658
NM_000051.4(ATM):c.1106C>G (p.Ser369Cys) rs762557654
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.1108dup (p.Tyr370fs)
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.110C>G (p.Pro37Arg) rs1591446947
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.4(ATM):c.1111_1115del (p.Thr371fs)
NM_000051.4(ATM):c.1112C>G (p.Thr371Ser) rs879254289
NM_000051.4(ATM):c.1113T>C (p.Thr371=) rs1591517484
NM_000051.4(ATM):c.1114A>T (p.Thr372Ser)
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile) rs765912563
NM_000051.4(ATM):c.1116T>C (p.Thr372=) rs371985921
NM_000051.4(ATM):c.1116_1117delinsAC (p.Thr373Pro)
NM_000051.4(ATM):c.1117A>G (p.Thr373Ala) rs751092163
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.4(ATM):c.1119A>C (p.Thr373=)
NM_000051.4(ATM):c.1119A>T (p.Thr373=) rs754889105
NM_000051.4(ATM):c.1120C>G (p.Gln374Glu) rs1185204988
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg) rs1555069640
NM_000051.4(ATM):c.1122A>G (p.Gln374=) rs1264315069
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1124del (p.Arg375fs) rs1555069653
NM_000051.4(ATM):c.1125A>G (p.Arg375=) rs2135292242
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.4(ATM):c.1128A>G (p.Glu376=) rs1186427608
NM_000051.4(ATM):c.112G>A (p.Glu38Lys) rs1591446961
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys) rs1555069665
NM_000051.4(ATM):c.1131T>A (p.Ser377=)
NM_000051.4(ATM):c.1131T>C (p.Ser377=) rs2135292457
NM_000051.4(ATM):c.1133G>A (p.Ser378Asn) rs1591517681
NM_000051.4(ATM):c.1134T>C (p.Ser378=)
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.4(ATM):c.1140C>T (p.Tyr380=) rs2135292742
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer) rs1555069677
NM_000051.4(ATM):c.1141A>G (p.Ser381Gly) rs786203602
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn) rs1462596554
NM_000051.4(ATM):c.1142G>C (p.Ser381Thr) rs1462596554
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile) rs1462596554
NM_000051.4(ATM):c.1143T>C (p.Ser381=) rs755991658
NM_000051.4(ATM):c.1145T>A (p.Val382Asp)
NM_000051.4(ATM):c.1146C>A (p.Val382=) rs786201150
NM_000051.4(ATM):c.1146C>G (p.Val382=) rs786201150
NM_000051.4(ATM):c.1146C>T (p.Val382=) rs786201150
NM_000051.4(ATM):c.1147C>G (p.Pro383Ala) rs864622650
NM_000051.4(ATM):c.1147C>T (p.Pro383Ser) rs864622650
NM_000051.4(ATM):c.1148C>G (p.Pro383Arg) rs1555069702
NM_000051.4(ATM):c.1148C>T (p.Pro383Leu) rs1555069702
NM_000051.4(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.4(ATM):c.114A>G (p.Glu38=) rs1591446969
NM_000051.4(ATM):c.1150T>G (p.Cys384Gly) rs2135293079
NM_000051.4(ATM):c.1151G>C (p.Cys384Ser)
NM_000051.4(ATM):c.1151dup (p.Cys384fs) rs2079995970
NM_000051.4(ATM):c.1154_1156del (p.Lys385del) rs2135293203
NM_000051.4(ATM):c.1157G>A (p.Arg386Lys) rs878853484
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln) rs786202686
NM_000051.4(ATM):c.1159A>G (p.Lys387Glu) rs786202686
NM_000051.4(ATM):c.1160A>G (p.Lys387Arg) rs876659755
NM_000051.4(ATM):c.1161G>A (p.Lys387=) rs786202369
NM_000051.4(ATM):c.1161G>C (p.Lys387Asn)
NM_000051.4(ATM):c.1162A>G (p.Lys388Glu) rs876659570
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg) rs1060501618
NM_000051.4(ATM):c.1164A>T (p.Lys388Asn)
NM_000051.4(ATM):c.1165A>C (p.Ile389Leu) rs1060501704
NM_000051.4(ATM):c.1165A>G (p.Ile389Val) rs1060501704
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1169A>G (p.Glu390Gly) rs2135293668
NM_000051.4(ATM):c.1170A>G (p.Glu390=) rs2135293693
NM_000051.4(ATM):c.1171C>A (p.Leu391Ile) rs2135293721
NM_000051.4(ATM):c.1175G>T (p.Gly392Val) rs779035681
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.1177T>C (p.Trp393Arg)
NM_000051.4(ATM):c.1177T>G (p.Trp393Gly) rs2135293953
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter) rs876658567
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.117A>G (p.Thr39=)
NM_000051.4(ATM):c.1184T>C (p.Val395Ala) rs1591517993
NM_000051.4(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.4(ATM):c.1187_1188delinsAT (p.Ile396Asn) rs2079998724
NM_000051.4(ATM):c.1189A>T (p.Lys397Ter) rs2079999064
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs) rs2079998938
NM_000051.4(ATM):c.1191A>C (p.Lys397Asn) rs2079999164
NM_000051.4(ATM):c.1191del (p.Asp398fs)
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.4(ATM):c.1192del (p.Asp398fs) rs1057519330
NM_000051.4(ATM):c.1193A>T (p.Asp398Val)
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu) rs551872656
NM_000051.4(ATM):c.1194T>C (p.Asp398=) rs551872656
NM_000051.4(ATM):c.1195C>T (p.His399Tyr) rs1565379474
NM_000051.4(ATM):c.1197C>G (p.His399Gln) rs786201131
NM_000051.4(ATM):c.1199T>C (p.Leu400Pro)
NM_000051.4(ATM):c.1199T>G (p.Leu400Arg)
NM_000051.4(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.4(ATM):c.1200T>C (p.Leu400=) rs1274342103
NM_000051.4(ATM):c.1201C>G (p.Gln401Glu) rs772529339
NM_000051.4(ATM):c.1203G>T (p.Gln401His) rs1214283617
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr) rs1591518138
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.4(ATM):c.1209A>C (p.Ser403=)
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu) rs730881340
NM_000051.4(ATM):c.1210C>T (p.Gln404Ter) rs730881340
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1213A>G (p.Asn405Asp)
NM_000051.4(ATM):c.1214del (p.Asn405fs) rs2080001212
NM_000051.4(ATM):c.1215T>C (p.Asn405=) rs2135295261
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1218T>C (p.Asp406=) rs2135295378
NM_000051.4(ATM):c.1219T>G (p.Phe407Val)
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.4(ATM):c.1221dup (p.Asp408Ter) rs1064792998
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.4(ATM):c.1225C>A (p.Leu409Ile) rs786203815
NM_000051.4(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.4(ATM):c.1228G>A (p.Val410Met) rs863224555
NM_000051.4(ATM):c.122_123del (p.Lys41fs)
NM_000051.4(ATM):c.1230G>A (p.Val410=) rs1555069869
NM_000051.4(ATM):c.1230G>T (p.Val410=) rs1555069869
NM_000051.4(ATM):c.1233T>C (p.Pro411=)
NM_000051.4(ATM):c.1233T>G (p.Pro411=) rs1591518323
NM_000051.4(ATM):c.1235+10T>C
NM_000051.4(ATM):c.1235+10_1235+28del rs1591518436
NM_000051.4(ATM):c.1235+11A>G rs2135296543
NM_000051.4(ATM):c.1235+16T>G
NM_000051.4(ATM):c.1235+19C>T
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1235+1G>C
NM_000051.4(ATM):c.1235+20T>C rs762656752
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1235+4A>G rs786203147
NM_000051.4(ATM):c.1235+4A>T rs786203147
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1235+5A>C rs1064793679
NM_000051.4(ATM):c.1235+5A>G rs1064793679
NM_000051.4(ATM):c.1235+8G>A
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser) rs587779813
NM_000051.4(ATM):c.1236-10T>C rs1364244917
NM_000051.4(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-14_1236-13insA
NM_000051.4(ATM):c.1236-14_1236-13insC
NM_000051.4(ATM):c.1236-17T>G
NM_000051.4(ATM):c.1236-18C>T rs201767651
NM_000051.4(ATM):c.1236-18_1236-17dup
NM_000051.4(ATM):c.1236-19C>A
NM_000051.4(ATM):c.1236-19C>G
NM_000051.4(ATM):c.1236-19_1236-18insT rs1211190659
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1236-1G>C rs1408719214
NM_000051.4(ATM):c.1236-1G>T rs1408719214
NM_000051.4(ATM):c.1236-1_1237del rs1591522664
NM_000051.4(ATM):c.1236-20_1236-19insA
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1236-2_1236del rs1591522646
NM_000051.4(ATM):c.1236-2_1237del rs1591522650
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1236-3T>A rs763976313
NM_000051.4(ATM):c.1236-3T>C rs763976313
NM_000051.4(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-4_1236-3insC rs2135315149
NM_000051.4(ATM):c.1236-6T>C
NM_000051.4(ATM):c.1236-6_1236-5insC rs878853483
NM_000051.4(ATM):c.1236-7T>C rs2080086515
NM_000051.4(ATM):c.1236-7_1236-6insA
NM_000051.4(ATM):c.1236-9T>C rs2135314849
NM_000051.4(ATM):c.1236-9T>G rs2135314849
NM_000051.4(ATM):c.1236-9_1236-8insC rs863224290
NM_000051.4(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.4(ATM):c.123A>G (p.Lys41=) rs2135012681
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1241A>C (p.Gln414Pro) rs2080088877
NM_000051.4(ATM):c.1241A>T (p.Gln414Leu)
NM_000051.4(ATM):c.1242G>T (p.Gln414His) rs786203667
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1244T>A (p.Ile415Asn) rs1565381748
NM_000051.4(ATM):c.1245T>C (p.Ile415=)
NM_000051.4(ATM):c.1245T>G (p.Ile415Met) rs1060501554
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
NM_000051.4(ATM):c.1247C>T (p.Ala416Val) rs2080089501
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.124C>A (p.His42Asn) rs1591447034
NM_000051.4(ATM):c.1251C>G (p.Thr417=) rs1555070643
NM_000051.4(ATM):c.1251C>T (p.Thr417=) rs1555070643
NM_000051.4(ATM):c.1254_1258del (p.Gln418fs) rs2135316258
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
NM_000051.4(ATM):c.1257A>G (p.Leu419=) rs779037197
NM_000051.4(ATM):c.1258A>C (p.Ile420Leu) rs1565381867
NM_000051.4(ATM):c.1259T>C (p.Ile420Thr) rs2080090371
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del) rs1555070659
NM_000051.4(ATM):c.1260A>C (p.Ile420=) rs750468699
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter) rs2135316531
NM_000051.4(ATM):c.1263A>G (p.Ser421=) rs1060504285
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1266G>A (p.Lys422=) rs1057520445
NM_000051.4(ATM):c.1266G>C (p.Lys422Asn) rs1057520445
NM_000051.4(ATM):c.1267T>C (p.Tyr423His)
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala) rs1591522957
NM_000051.4(ATM):c.1270C>T (p.Pro424Ser)
NM_000051.4(ATM):c.1271C>T (p.Pro424Leu) rs147472613
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr) rs769214234
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1274C>T (p.Ala425Val) rs1301649540
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs) rs1591523010
NM_000051.4(ATM):c.1275A>G (p.Ala425=) rs1591523031
NM_000051.4(ATM):c.1276del (p.Ser426fs) rs2135316980
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn) rs1350528190
NM_000051.4(ATM):c.1278T>C (p.Ser426=)
NM_000051.4(ATM):c.1278T>G (p.Ser426Arg) rs2135317047
NM_000051.4(ATM):c.127C>A (p.Leu43Ile) rs772591447
NM_000051.4(ATM):c.127C>T (p.Leu43=) rs772591447
NM_000051.4(ATM):c.1280T>A (p.Leu427Ter) rs2135317116
NM_000051.4(ATM):c.1282C>A (p.Pro428Thr)
NM_000051.4(ATM):c.1283C>A (p.Pro428His)
NM_000051.4(ATM):c.1284_1291del (p.Asn429fs) rs863224460
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1293G>A (p.Glu431=) rs2135317554
NM_000051.4(ATM):c.1293_1294delinsAT (p.Glu431_Leu432=) rs1591523100
NM_000051.4(ATM):c.1294_1295delinsGG (p.Leu432Gly)
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg) rs546621356
NM_000051.4(ATM):c.1296G>A (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1296G>C (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1300C>T (p.Pro434Ser) rs1064795171
NM_000051.4(ATM):c.1301C>T (p.Pro434Leu) rs2080093920
NM_000051.4(ATM):c.1304T>G (p.Leu435Ter) rs1565382166
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1307T>A (p.Leu436Gln) rs1060501608
NM_000051.4(ATM):c.1309A>C (p.Met437Leu) rs2135318098
NM_000051.4(ATM):c.1309A>T (p.Met437Leu)
NM_000051.4(ATM):c.130G>C (p.Asp44His)
NM_000051.4(ATM):c.130G>T (p.Asp44Tyr) rs1320733816
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.1314A>T (p.Ile438=)
NM_000051.4(ATM):c.1315C>A (p.Leu439Ile)
NM_000051.4(ATM):c.1316T>A (p.Leu439Gln) rs2080095349
NM_000051.4(ATM):c.1316T>C (p.Leu439Pro) rs2080095349
NM_000051.4(ATM):c.131A>T (p.Asp44Val) rs150143957
NM_000051.4(ATM):c.1320T>G (p.Ser440=)
NM_000051.4(ATM):c.1320_1321del (p.Gln441fs) rs1555070745
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1323G>A (p.Gln441=) rs2080095950
NM_000051.4(ATM):c.1323G>C (p.Gln441His)
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe) rs1060501574
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro) rs1064794732
NM_000051.4(ATM):c.1326T>A (p.Leu442=)
NM_000051.4(ATM):c.1327C>G (p.Leu443Val) rs1057524185
NM_000051.4(ATM):c.1327C>T (p.Leu443=) rs1057524185
NM_000051.4(ATM):c.1329A>G (p.Leu443=) rs201460863
NM_000051.4(ATM):c.1330C>T (p.Pro444Ser)
NM_000051.4(ATM):c.1331C>A (p.Pro444His) rs2080096939
NM_000051.4(ATM):c.1331C>T (p.Pro444Leu)
NM_000051.4(ATM):c.1332C>T (p.Pro444=)
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter) rs2080097197
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys) rs587782121
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.1337A>G (p.Gln446Arg) rs1292838154
NM_000051.4(ATM):c.133C>A (p.Arg45=) rs3218684
NM_000051.4(ATM):c.1340G>C (p.Arg447Pro) rs760676955
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu) rs760676955
NM_000051.4(ATM):c.1341A>T (p.Arg447=) rs2135319279
NM_000051.4(ATM):c.1342C>G (p.His448Asp)
NM_000051.4(ATM):c.1342C>T (p.His448Tyr) rs2080098243
NM_000051.4(ATM):c.1343A>T (p.His448Leu)
NM_000051.4(ATM):c.1345G>A (p.Gly449Arg)
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.4(ATM):c.1347G>A (p.Gly449=) rs1591523440
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys) rs1555070786
NM_000051.4(ATM):c.1348del (p.Glu450fs) rs758004668
NM_000051.4(ATM):c.1350A>G (p.Glu450=) rs2135319715
NM_000051.4(ATM):c.1351C>G (p.Arg451Gly) rs201719927
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.1354A>T (p.Thr452Ser) rs1324524747
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1356A>G (p.Thr452=) rs1555070803
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.4(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135G>C (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135G>T (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135dup (p.His46fs) rs1591447147
NM_000051.4(ATM):c.1360T>C (p.Tyr454His) rs1555070814
NM_000051.4(ATM):c.1362T>A (p.Tyr454Ter)
NM_000051.4(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.4(ATM):c.1365G>A (p.Val455=) rs765130666
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1368dup (p.Arg457fs) rs1565382593
NM_000051.4(ATM):c.1369C>G (p.Arg457Gly) rs749036865
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1370G>C (p.Arg457Pro)
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1371A>T (p.Arg457=)
NM_000051.4(ATM):c.1372T>C (p.Cys458Arg) rs876660619
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr) rs1064796013
NM_000051.4(ATM):c.1374C>G (p.Cys458Trp) rs2135320531
NM_000051.4(ATM):c.1374C>T (p.Cys458=) rs2135320531
NM_000051.4(ATM):c.1375C>G (p.Leu459Val) rs1064794635
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro) rs587782729
NM_000051.4(ATM):c.1378dup (p.Thr460fs) rs2080101851
NM_000051.4(ATM):c.1379C>A (p.Thr460Lys)
NM_000051.4(ATM):c.1379C>G (p.Thr460Arg) rs587781841
NM_000051.4(ATM):c.137A>C (p.His46Pro) rs1591447177
NM_000051.4(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys) rs781578507
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly) rs2080102342
NM_000051.4(ATM):c.1383A>G (p.Glu461=) rs748493136
NM_000051.4(ATM):c.1385T>C (p.Val462Ala) rs1555070869
NM_000051.4(ATM):c.1386T>C (p.Val462=)
NM_000051.4(ATM):c.1386T>G (p.Val462=)
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.4(ATM):c.1388C>G (p.Ala463Gly)
NM_000051.4(ATM):c.1389A>G (p.Ala463=) rs2080102935
NM_000051.4(ATM):c.138T>G (p.His46Gln) rs770834907
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1390T>C (p.Leu464=)
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs) rs2080103035
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe) rs760191806
NM_000051.4(ATM):c.1393T>C (p.Cys465Arg)
NM_000051.4(ATM):c.1394G>C (p.Cys465Ser) rs1555070888
NM_000051.4(ATM):c.1395T>C (p.Cys465=)
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg) rs770028453
NM_000051.4(ATM):c.1398A>G (p.Gln466=) rs1591523834
NM_000051.4(ATM):c.1399G>A (p.Asp467Asn) rs2135321547
NM_000051.4(ATM):c.13C>G (p.Leu5Val) rs2078805774
NM_000051.4(ATM):c.13C>T (p.Leu5Phe)
NM_000051.4(ATM):c.1401C>A (p.Asp467Glu) rs2135321564
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu) rs876660820
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg) rs1060501628
NM_000051.4(ATM):c.1404G>A (p.Lys468=) rs2135321676
NM_000051.4(ATM):c.1406G>A (p.Arg469Lys)
NM_000051.4(ATM):c.1406_1413del (p.Arg469fs) rs2135321724
NM_000051.4(ATM):c.1408_1423del (p.Ser470fs) rs2080104347
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter) rs1591523878
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu) rs1591523878
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1410A>C (p.Ser470=) rs939650649
NM_000051.4(ATM):c.1411A>C (p.Asn471His) rs2080104786
NM_000051.4(ATM):c.1416A>G (p.Leu472=) rs786201691
NM_000051.4(ATM):c.1417G>A (p.Glu473Lys) rs1565382834
NM_000051.4(ATM):c.1417G>C (p.Glu473Gln)
NM_000051.4(ATM):c.1418A>G (p.Glu473Gly) rs1555070923
NM_000051.4(ATM):c.1419A>G (p.Glu473=) rs2135322174
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs) rs2080105212
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.4(ATM):c.1422C>T (p.Ser474=)
NM_000051.4(ATM):c.1425A>G (p.Ser475=) rs2080105606
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg) rs1397399631
NM_000051.4(ATM):c.1427A>T (p.Gln476Leu) rs1397399631
NM_000051.4(ATM):c.1428A>G (p.Gln476=) rs745509434
NM_000051.4(ATM):c.1429A>G (p.Lys477Glu) rs2080106015
NM_000051.4(ATM):c.142G>C (p.Asp48His) rs2135013650
NM_000051.4(ATM):c.1431G>A (p.Lys477=) rs1555070941
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
NM_000051.4(ATM):c.1432T>C (p.Ser478Pro) rs2080106232
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter) rs2080106350
NM_000051.4(ATM):c.1433C>T (p.Ser478Leu)
NM_000051.4(ATM):c.1434A>G (p.Ser478=) rs2135322636
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.4(ATM):c.1436A>C (p.Asp479Ala) rs1555070958
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile) rs879254243
NM_000051.4(ATM):c.1438_1442del (p.Leu480fs)
NM_000051.4(ATM):c.143A>G (p.Asp48Gly) rs2078822797
NM_000051.4(ATM):c.1440A>T (p.Leu480Phe) rs370240037
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe) rs753808755
NM_000051.4(ATM):c.1444A>G (p.Lys482Glu)
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1447C>T (p.Leu483Phe) rs2135323121
NM_000051.4(ATM):c.1448T>C (p.Leu483Pro) rs2080107968
NM_000051.4(ATM):c.1449C>G (p.Leu483=) rs948934905
NM_000051.4(ATM):c.1450T>C (p.Trp484Arg) rs2080108178
NM_000051.4(ATM):c.1453A>G (p.Asn485Asp)
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys) rs1385019623
NM_000051.4(ATM):c.1456A>G (p.Lys486Glu)
NM_000051.4(ATM):c.1459del (p.Ile487fs)
NM_000051.4(ATM):c.145T>A (p.Ser49Thr) rs2135013712
NM_000051.4(ATM):c.145del (p.Ser49fs)
NM_000051.4(ATM):c.1460T>C (p.Ile487Thr)
NM_000051.4(ATM):c.1462T>C (p.Trp488Arg) rs2135323595
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)
NM_000051.4(ATM):c.1463G>T (p.Trp488Leu)
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1464G>C (p.Trp488Cys) rs377597949
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly) rs1591524158
NM_000051.4(ATM):c.1466G>C (p.Cys489Ser) rs776412334
NM_000051.4(ATM):c.1466_1467del (p.Cys489fs) rs2080108960
NM_000051.4(ATM):c.1467T>C (p.Cys489=) rs1591524178
NM_000051.4(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.4(ATM):c.1468A>G (p.Ile490Val) rs761850075
NM_000051.4(ATM):c.1469T>C (p.Ile490Thr) rs1565383172
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.4(ATM):c.1470T>G (p.Ile490Met)
NM_000051.4(ATM):c.1471dup (p.Thr491fs) rs2080109832
NM_000051.4(ATM):c.1473C>A (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1473C>T (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1476T>C (p.Phe492=) rs1591524241
NM_000051.4(ATM):c.1478G>A (p.Arg493His) rs1565383235
NM_000051.4(ATM):c.1479del (p.Gly494fs)
NM_000051.4(ATM):c.147C>T (p.Ser49=) rs876660033
NM_000051.4(ATM):c.1481G>C (p.Gly494Ala)
NM_000051.4(ATM):c.1481G>T (p.Gly494Val) rs786202233
NM_000051.4(ATM):c.1482T>G (p.Gly494=) rs1335320350
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1483dup (p.Ile495fs) rs2135324290
NM_000051.4(ATM):c.1484T>G (p.Ile495Arg)
NM_000051.4(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile) rs778890679
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr) rs2080111322
NM_000051.4(ATM):c.1488T>A (p.Ser496Arg)
NM_000051.4(ATM):c.1488T>C (p.Ser496=)
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr) rs1375637948
NM_000051.4(ATM):c.1490C>A (p.Ser497Tyr)
NM_000051.4(ATM):c.1490C>T (p.Ser497Phe) rs2135324525
NM_000051.4(ATM):c.1491T>A (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1491T>C (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1491del (p.Glu498fs) rs2135324604
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.4(ATM):c.1493A>G (p.Glu498Gly)
NM_000051.4(ATM):c.1494G>C (p.Glu498Asp) rs763108858
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1498A>C (p.Ile500Leu) rs2080112487
NM_000051.4(ATM):c.1500A>G (p.Ile500Met) rs2135324896
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr) rs2080112799
NM_000051.4(ATM):c.1506T>C (p.Ala502=)
NM_000051.4(ATM):c.1507G>A (p.Glu503Lys)
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp) rs2135325176
NM_000051.4(ATM):c.1511A>C (p.Asn504Thr) rs56365018
NM_000051.4(ATM):c.1513T>C (p.Phe505Leu) rs1591524421
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.1518C>G (p.Gly506=) rs864622528
NM_000051.4(ATM):c.1518C>T (p.Gly506=) rs864622528
NM_000051.4(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.4(ATM):c.151_153del (p.Gln51del)
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1520_1524del (p.Leu507fs) rs2080114187
NM_000051.4(ATM):c.1521A>G (p.Leu507=) rs2135325598
NM_000051.4(ATM):c.1522C>T (p.Leu508Phe) rs1011518082
NM_000051.4(ATM):c.1523T>C (p.Leu508Pro) rs1565383502
NM_000051.4(ATM):c.1524T>C (p.Leu508=) rs559095379
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1525G>A (p.Gly509Arg)
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)
NM_000051.4(ATM):c.1528G>A (p.Ala510Thr) rs1555071138
NM_000051.4(ATM):c.1530del (p.Ala510_Ile511insTer) rs2080115284
NM_000051.4(ATM):c.1531A>G (p.Ile511Val) rs1591524572
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr) rs2080115491
NM_000051.4(ATM):c.1532T>G (p.Ile511Arg) rs2080115491
NM_000051.4(ATM):c.1533A>G (p.Ile511Met) rs2080115604
NM_000051.4(ATM):c.1535T>G (p.Ile512Ser) rs2135326136
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro) rs753109010
NM_000051.4(ATM):c.1538A>G (p.Gln513Arg) rs753109010
NM_000051.4(ATM):c.1538A>T (p.Gln513Leu) rs753109010
NM_000051.4(ATM):c.1539G>C (p.Gln513His) rs2080116342
NM_000051.4(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys) rs1591524652
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter) rs786202195
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser) rs786202195
NM_000051.4(ATM):c.1547_1550delinsA (p.Leu516_Val517delinsTyr) rs1555071174
NM_000051.4(ATM):c.1547_1551del (p.Ser515_Leu516insTer)
NM_000051.4(ATM):c.1549G>A (p.Val517Ile) rs2080117236
NM_000051.4(ATM):c.154G>A (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.154G>C (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.1550T>A (p.Val517Asp) rs777986229
NM_000051.4(ATM):c.1550T>C (p.Val517Ala) rs777986229
NM_000051.4(ATM):c.1551T>C (p.Val517=) rs553020161
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
NM_000051.4(ATM):c.1553_1555del (p.Glu518del)
NM_000051.4(ATM):c.1554G>C (p.Glu518Asp) rs2080117769
NM_000051.4(ATM):c.1555G>A (p.Val519Ile) rs758056561
NM_000051.4(ATM):c.1555G>T (p.Val519Phe) rs758056561
NM_000051.4(ATM):c.1558G>A (p.Asp520Asn) rs2080118143
NM_000051.4(ATM):c.1560C>T (p.Asp520=) rs1591524777
NM_000051.4(ATM):c.1561A>C (p.Arg521=) rs2080118357
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly) rs2080118357
NM_000051.4(ATM):c.1564G>A (p.Glu522Lys) rs2080118610
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1566A>C (p.Glu522Asp)
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser) rs768038315
NM_000051.4(ATM):c.1569C>G (p.Phe523Leu)
NM_000051.4(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.1571G>A (p.Trp524Ter) rs2080119161
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
NM_000051.4(ATM):c.1572G>C (p.Trp524Cys) rs1060501667
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn) rs587780613
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser) rs2080119755
NM_000051.4(ATM):c.1578_1579insAA (p.Phe527fs)
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1581T>C (p.Phe527=) rs1555071227
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala) rs876658647
NM_000051.4(ATM):c.1583C>G (p.Thr528Ser)
NM_000051.4(ATM):c.1584T>A (p.Thr528=)
NM_000051.4(ATM):c.1584T>C (p.Thr528=) rs864622408
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu) rs1555071242
NM_000051.4(ATM):c.1587G>A (p.Gly529=) rs1060504276
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu) rs2080120731
NM_000051.4(ATM):c.158A>C (p.Lys53Thr)
NM_000051.4(ATM):c.1590A>G (p.Ser530=) rs2135327907
NM_000051.4(ATM):c.1591G>C (p.Ala531Pro) rs876660941
NM_000051.4(ATM):c.1591G>T (p.Ala531Ser) rs876660941
NM_000051.4(ATM):c.1592C>T (p.Ala531Val) rs1591524927
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.4(ATM):c.1598G>T (p.Arg533Ile) rs2080121541
NM_000051.4(ATM):c.1599A>G (p.Arg533=) rs1555071269
NM_000051.4(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.4(ATM):c.15T>G (p.Leu5=) rs1357506783
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1600C>T (p.Pro534Ser)
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.4(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.4(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1605A>T (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg) rs2135328461
NM_000051.4(ATM):c.1607+10G>A rs1555071298
NM_000051.4(ATM):c.1607+10G>C rs1555071298
NM_000051.4(ATM):c.1607+10G>T rs1555071298
NM_000051.4(ATM):c.1607+10_1607+11delinsTT
NM_000051.4(ATM):c.1607+11C>A rs955225694
NM_000051.4(ATM):c.1607+11C>T
NM_000051.4(ATM):c.1607+12A>G
NM_000051.4(ATM):c.1607+13T>C rs1057522249
NM_000051.4(ATM):c.1607+14G>A
NM_000051.4(ATM):c.1607+15C>T
NM_000051.4(ATM):c.1607+162A>G
NM_000051.4(ATM):c.1607+18T>C
NM_000051.4(ATM):c.1607+18del rs1259647838
NM_000051.4(ATM):c.1607+19A>C
NM_000051.4(ATM):c.1607+1G>A rs772926890
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1607+21_1607+29del
NM_000051.4(ATM):c.1607+2dup rs2135328592
NM_000051.4(ATM):c.1607+3A>G rs2080122454
NM_000051.4(ATM):c.1607+4A>G
NM_000051.4(ATM):c.1607+5G>A rs766535949
NM_000051.4(ATM):c.1607+7T>C rs2135328716
NM_000051.4(ATM):c.1607+7T>G
NM_000051.4(ATM):c.1607+8C>T rs2135328749
NM_000051.4(ATM):c.1607+9A>T rs1028538482
NM_000051.4(ATM):c.1607G>C (p.Cys536Ser)
NM_000051.4(ATM):c.1607G>T (p.Cys536Phe) rs769788188
NM_000051.4(ATM):c.1608-13T>C
NM_000051.4(ATM):c.1608-16C>A
NM_000051.4(ATM):c.1608-16C>G rs2080161173
NM_000051.4(ATM):c.1608-18T>C
NM_000051.4(ATM):c.1608-19G>C
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1608-1G>C rs1565385010
NM_000051.4(ATM):c.1608-20T>C
NM_000051.4(ATM):c.1608-2A>C rs2135338498
NM_000051.4(ATM):c.1608-4A>G rs2080162473
NM_000051.4(ATM):c.1608-5T>C
NM_000051.4(ATM):c.1608-6T>C
NM_000051.4(ATM):c.1608-7G>A rs1555071656
NM_000051.4(ATM):c.1608-7G>T rs1555071656
NM_000051.4(ATM):c.1608-8del rs1064794419
NM_000051.4(ATM):c.1608T>A (p.Cys536Ter)
NM_000051.4(ATM):c.1608T>C (p.Cys536=) rs2080162888
NM_000051.4(ATM):c.1608T>G (p.Cys536Trp)
NM_000051.4(ATM):c.1610C>A (p.Pro537His) rs587782463
NM_000051.4(ATM):c.1610C>G (p.Pro537Arg) rs587782463
NM_000051.4(ATM):c.1610C>T (p.Pro537Leu) rs587782463
NM_000051.4(ATM):c.1611T>C (p.Pro537=) rs2135338657
NM_000051.4(ATM):c.1612G>C (p.Ala538Pro) rs2080163261
NM_000051.4(ATM):c.1612_1613delinsTT (p.Ala538Leu) rs2080163350
NM_000051.4(ATM):c.1613C>T (p.Ala538Val) rs1565385040
NM_000051.4(ATM):c.1614_1645del (p.Val539fs) rs2135338847
NM_000051.4(ATM):c.1617A>G (p.Val539=) rs1060504300
NM_000051.4(ATM):c.1620C>T (p.Cys540=) rs1555071676
NM_000051.4(ATM):c.1621T>C (p.Cys541Arg) rs2080164132
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr) rs1555071682
NM_000051.4(ATM):c.1622G>C (p.Cys541Ser) rs1555071682
NM_000051.4(ATM):c.1624T>G (p.Leu542Val) rs587781366
NM_000051.4(ATM):c.1625T>G (p.Leu542Trp)
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer) rs2080164484
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile) rs772874616
NM_000051.4(ATM):c.1633G>A (p.Ala545Thr) rs1565385130
NM_000051.4(ATM):c.1633G>C (p.Ala545Pro) rs1565385130
NM_000051.4(ATM):c.1635A>G (p.Ala545=) rs1555071712
NM_000051.4(ATM):c.1635dup (p.Leu546fs) rs2135339476
NM_000051.4(ATM):c.1636C>T (p.Leu546=) rs2227924
NM_000051.4(ATM):c.1637T>C (p.Leu546Pro) rs1565385177
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
NM_000051.4(ATM):c.1640C>T (p.Thr547Ile) rs786203572
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
NM_000051.4(ATM):c.1645A>G (p.Ser549Gly)
NM_000051.4(ATM):c.1645A>T (p.Ser549Cys)
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn) rs2080166953
NM_000051.4(ATM):c.1646G>C (p.Ser549Thr)
NM_000051.4(ATM):c.1649T>C (p.Ile550Thr) rs864622285
NM_000051.4(ATM):c.1649T>G (p.Ile550Arg) rs864622285
NM_000051.4(ATM):c.164T>G (p.Leu55Trp) rs1565344888
NM_000051.4(ATM):c.164del (p.Tyr54_Leu55insTer)
NM_000051.4(ATM):c.1650A>G (p.Ile550Met) rs1060501606
NM_000051.4(ATM):c.1651G>A (p.Val551Ile) rs1555071742
NM_000051.4(ATM):c.1651G>T (p.Val551Phe) rs1555071742
NM_000051.4(ATM):c.1653T>C (p.Val551=)
NM_000051.4(ATM):c.1653del (p.Pro552fs) rs2080167483
NM_000051.4(ATM):c.1654C>G (p.Pro552Ala)
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg) rs2135340121
NM_000051.4(ATM):c.1655C>T (p.Pro552Leu)
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1658G>A (p.Gly553Glu)
NM_000051.4(ATM):c.1658del (p.Gly553fs) rs1064796556
NM_000051.4(ATM):c.165G>C (p.Leu55Phe) rs1555054230
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro) rs1060788
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1661C>A (p.Thr554Lys) rs1060501694
NM_000051.4(ATM):c.1662G>C (p.Thr554=) rs764646531
NM_000051.4(ATM):c.1663G>T (p.Val555Leu) rs2080168708
NM_000051.4(ATM):c.1663_1669del (p.Val555fs)
NM_000051.4(ATM):c.1665A>G (p.Val555=) rs754367168
NM_000051.4(ATM):c.1666A>G (p.Lys556Glu)
NM_000051.4(ATM):c.1668_2466+1284del
NM_000051.4(ATM):c.1669A>G (p.Met557Val) rs1427517965
NM_000051.4(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.4(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala) rs1064795257
NM_000051.4(ATM):c.1676T>C (p.Ile559Thr) rs2080169884
NM_000051.4(ATM):c.1677A>G (p.Ile559Met) rs1190611996
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly) rs762476611
NM_000051.4(ATM):c.1680G>A (p.Glu560=) rs1555071815
NM_000051.4(ATM):c.1681C>G (p.Gln561Glu) rs2080170537
NM_000051.4(ATM):c.1683A>T (p.Gln561His)
NM_000051.4(ATM):c.1684A>G (p.Asn562Asp)
NM_000051.4(ATM):c.1685A>C (p.Asn562Thr) rs368209025
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile) rs368209025
NM_000051.4(ATM):c.1685del (p.Asn562fs)
NM_000051.4(ATM):c.1688T>C (p.Met563Thr)
NM_000051.4(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>C (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>T (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.168T>C (p.Asn56=) rs1591447362
NM_000051.4(ATM):c.168T>G (p.Asn56Lys) rs1591447362
NM_000051.4(ATM):c.1691G>T (p.Cys564Phe)
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1692T>G (p.Cys564Trp)
NM_000051.4(ATM):c.1692_1693del (p.Cys564_Glu565delinsTer) rs2080171293
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys) rs2080171822
NM_000051.4(ATM):c.1695del (p.Glu565_Val566insTer) rs2135341489
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)
NM_000051.4(ATM):c.1697T>C (p.Val566Ala) rs2080172143
NM_000051.4(ATM):c.1698A>G (p.Val566=) rs2135341613
NM_000051.4(ATM):c.1699A>T (p.Asn567Tyr) rs2135341638
NM_000051.4(ATM):c.169T>C (p.Trp57Arg) rs1555054238
NM_000051.4(ATM):c.169T>G (p.Trp57Gly)
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.4(ATM):c.1701T>C (p.Asn567=) rs878853487
NM_000051.4(ATM):c.1702A>T (p.Arg568Ter) rs876659425
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.4(ATM):c.1705A>T (p.Ser569Cys)
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile) rs749216212
NM_000051.4(ATM):c.1714T>G (p.Leu572Val) rs749216212
NM_000051.4(ATM):c.1715_1716insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCTTTCTTT (p.Ser571_Leu572insPhePhePhePhePhePhePheXaaXaaXaaXaaTyrMetCysHisAlaGlyAlaLeuHisProLeuMetCysHisLeuAlaLeuGlyIleSerProAsnAlaIleLeuSer)
NM_000051.4(ATM):c.1719G>A (p.Lys573=)
NM_000051.4(ATM):c.171G>T (p.Trp57Cys) rs1555054249
NM_000051.4(ATM):c.1720G>C (p.Glu574Gln) rs770911276
NM_000051.4(ATM):c.1721A>C (p.Glu574Ala) rs1565385690
NM_000051.4(ATM):c.1721A>G (p.Glu574Gly)
NM_000051.4(ATM):c.1722A>C (p.Glu574Asp) rs372334891
NM_000051.4(ATM):c.1722A>G (p.Glu574=) rs372334891
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter) rs2135342200
NM_000051.4(ATM):c.1724C>G (p.Ser575Ter)
NM_000051.4(ATM):c.1729A>C (p.Met577Leu) rs1555071919
NM_000051.4(ATM):c.172G>A (p.Asp58Asn) rs876660661
NM_000051.4(ATM):c.172G>C (p.Asp58His) rs876660661
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.172del (p.Asp58fs) rs1555054243
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln) rs1555071926
NM_000051.4(ATM):c.1732A>G (p.Lys578Glu)
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg) rs1266358260
NM_000051.4(ATM):c.1734A>G (p.Lys578=) rs1555071939
NM_000051.4(ATM):c.1735T>G (p.Trp579Gly)
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe) rs1555071952
NM_000051.4(ATM):c.1739T>A (p.Leu580His) rs890554688
NM_000051.4(ATM):c.1739T>C (p.Leu580Pro) rs890554688
NM_000051.4(ATM):c.173A>G (p.Asp58Gly) rs1378701359
NM_000051.4(ATM):c.173A>T (p.Asp58Val) rs1378701359
NM_000051.4(ATM):c.1740C>G (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs) rs1131691151
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1743A>G (p.Leu581=)
NM_000051.4(ATM):c.1745T>G (p.Phe582Cys)
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu) rs145629926
NM_000051.4(ATM):c.1747T>C (p.Tyr583His) rs2135342937
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser) rs587780614
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter) rs2080176523
NM_000051.4(ATM):c.1752G>A (p.Gln584=) rs2135343108
NM_000051.4(ATM):c.1752G>C (p.Gln584His)
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.4(ATM):c.1756G>A (p.Glu586Lys) rs1565386004
NM_000051.4(ATM):c.1756G>C (p.Glu586Gln) rs1565386004
NM_000051.4(ATM):c.1757A>T (p.Glu586Val) rs587781907
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp) rs1555072017
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser) rs879254227
NM_000051.4(ATM):c.1759G>C (p.Gly587Arg) rs879254227
NM_000051.4(ATM):c.1760G>A (p.Gly587Asp) rs1060501553
NM_000051.4(ATM):c.1760G>T (p.Gly587Val) rs1060501553
NM_000051.4(ATM):c.1761T>A (p.Gly587=)
NM_000051.4(ATM):c.1762del (p.Asp588fs) rs2135343498
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly) rs2080177696
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
NM_000051.4(ATM):c.176C>T (p.Ala59Val) rs760880388
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1774A>G (p.Ser592Gly) rs1060501558
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.4(ATM):c.1776C>T (p.Ser592=) rs1057524304
NM_000051.4(ATM):c.1778C>G (p.Thr593Arg) rs2135343992
NM_000051.4(ATM):c.1778C>T (p.Thr593Ile) rs2135343992
NM_000051.4(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1780G>T (p.Glu594Ter) rs2080178937
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
NM_000051.4(ATM):c.1782A>G (p.Glu594=) rs876660494
NM_000051.4(ATM):c.1783G>A (p.Val595Met) rs2080179332
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1786C>A (p.Pro596Thr)
NM_000051.4(ATM):c.1786C>G (p.Pro596Ala)
NM_000051.4(ATM):c.1787C>T (p.Pro596Leu)
NM_000051.4(ATM):c.1788T>G (p.Pro596=)
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala) rs1555072070
NM_000051.4(ATM):c.178G>A (p.Val60Ile) rs1166668199
NM_000051.4(ATM):c.178G>C (p.Val60Leu) rs1166668199
NM_000051.4(ATM):c.1791A>G (p.Pro597=) rs2135344323
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu) rs730881343
NM_000051.4(ATM):c.1794T>C (p.Ile598=) rs786201830
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.4(ATM):c.1796T>C (p.Leu599Pro) rs1555072082
NM_000051.4(ATM):c.1798C>A (p.His600Asn) rs1555072089
NM_000051.4(ATM):c.1798C>T (p.His600Tyr) rs1555072089
NM_000051.4(ATM):c.1799A>G (p.His600Arg) rs2080180530
NM_000051.4(ATM):c.1799_1802+5del rs781244480
NM_000051.4(ATM):c.17_20del (p.Asn6fs)
NM_000051.4(ATM):c.17dup (p.Asn6fs) rs2135004405
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1800del (p.His600fs)
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly) rs1591528484
NM_000051.4(ATM):c.1802+12T>G
NM_000051.4(ATM):c.1802+13C>T rs1555072105
NM_000051.4(ATM):c.1802+14A>G rs2135344920
NM_000051.4(ATM):c.1802+15T>C rs2135344940
NM_000051.4(ATM):c.1802+16T>C rs995327985
NM_000051.4(ATM):c.1802+16del rs1064794466
NM_000051.4(ATM):c.1802+18G>A
NM_000051.4(ATM):c.1802+18G>C rs1168327781
NM_000051.4(ATM):c.1802+19C>T
NM_000051.4(ATM):c.1802+1G>A
NM_000051.4(ATM):c.1802+1G>T rs2135344665
NM_000051.4(ATM):c.1802+1del
NM_000051.4(ATM):c.1802+20A>T rs1009750697
NM_000051.4(ATM):c.1802+3A>C
NM_000051.4(ATM):c.1802+3A>G rs1591528500
NM_000051.4(ATM):c.1802+3A>T rs1591528500
NM_000051.4(ATM):c.1802+8A>G rs766706104
NM_000051.4(ATM):c.1802+8A>T rs766706104
NM_000051.4(ATM):c.1802+9A>G rs2135344806
NM_000051.4(ATM):c.1802G>A (p.Ser601Asn) rs763402339
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr) rs763402339
NM_000051.4(ATM):c.1803-10T>C rs1555072423
NM_000051.4(ATM):c.1803-15T>C rs2080225396
NM_000051.4(ATM):c.1803-15del rs1420491228
NM_000051.4(ATM):c.1803-18T>C
NM_000051.4(ATM):c.1803-1G>A
NM_000051.4(ATM):c.1803-20C>T
NM_000051.4(ATM):c.1803-270T>G
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1803-4G>A rs876659300
NM_000051.4(ATM):c.1803-4G>T
NM_000051.4(ATM):c.1803-5T>C rs786203034
NM_000051.4(ATM):c.1803-7T>C rs2135352285
NM_000051.4(ATM):c.1803-9T>C rs2135352230
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp) rs2080226309
NM_000051.4(ATM):c.1804_1808dup (p.Phe603fs)
NM_000051.4(ATM):c.1805A>C (p.Asn602Thr) rs1173305253
NM_000051.4(ATM):c.1808T>G (p.Phe603Cys) rs2135352513
NM_000051.4(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.4(ATM):c.1811C>G (p.Pro604Arg)
NM_000051.4(ATM):c.1811C>T (p.Pro604Leu) rs1565387411
NM_000051.4(ATM):c.1813C>G (p.His605Asp) rs786202928
NM_000051.4(ATM):c.1813C>T (p.His605Tyr) rs786202928
NM_000051.4(ATM):c.1813del (p.His605fs) rs2135352736
NM_000051.4(ATM):c.1814A>C (p.His605Pro) rs771877351
NM_000051.4(ATM):c.1814A>T (p.His605Leu)
NM_000051.4(ATM):c.1817T>C (p.Leu606Pro)
NM_000051.4(ATM):c.1818T>G (p.Leu606=) rs2080227232
NM_000051.4(ATM):c.1819G>A (p.Val607Ile) rs878853489
NM_000051.4(ATM):c.1819G>T (p.Val607Leu) rs878853489
NM_000051.4(ATM):c.181T>A (p.Phe61Ile) rs2078825833
NM_000051.4(ATM):c.1821A>C (p.Val607=) rs876660362
NM_000051.4(ATM):c.1821A>G (p.Val607=) rs876660362
NM_000051.4(ATM):c.1822C>T (p.Leu608=) rs1591530779
NM_000051.4(ATM):c.1825G>A (p.Glu609Lys) rs779780896
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.1826A>T (p.Glu609Val) rs2080227710
NM_000051.4(ATM):c.1827G>A (p.Glu609=) rs1555072460
NM_000051.4(ATM):c.1827G>T (p.Glu609Asp) rs1555072460
NM_000051.4(ATM):c.1829A>G (p.Lys610Arg) rs1555072464
NM_000051.4(ATM):c.1829A>T (p.Lys610Ile)
NM_000051.4(ATM):c.182T>C (p.Phe61Ser) rs786203063
NM_000051.4(ATM):c.1830A>C (p.Lys610Asn)
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
NM_000051.4(ATM):c.1833T>A (p.Ile611=) rs2135353362
NM_000051.4(ATM):c.1833T>C (p.Ile611=)
NM_000051.4(ATM):c.1834C>A (p.Leu612Ile)
NM_000051.4(ATM):c.1834C>G (p.Leu612Val) rs747242300
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe) rs747242300
NM_000051.4(ATM):c.1835T>A (p.Leu612His) rs1555072474
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro) rs1555072474
NM_000051.4(ATM):c.1836T>A (p.Leu612=) rs1309539769
NM_000051.4(ATM):c.1837G>A (p.Val613Met) rs200124136
NM_000051.4(ATM):c.1838T>C (p.Val613Ala) rs762018538
NM_000051.4(ATM):c.1838_1839del (p.Val613fs) rs1591530854
NM_000051.4(ATM):c.1838del (p.Val613fs) rs2135353661
NM_000051.4(ATM):c.1838dup (p.Ser614fs) rs1555072492
NM_000051.4(ATM):c.1839G>C (p.Val613=) rs2135353682
NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer) rs1555072480
NM_000051.4(ATM):c.183del (p.Phe61fs) rs2135014976
NM_000051.4(ATM):c.1840_1841del (p.Leu615fs) rs2135353714
NM_000051.4(ATM):c.1841G>A (p.Ser614Asn)
NM_000051.4(ATM):c.1841G>T (p.Ser614Ile) rs770377706
NM_000051.4(ATM):c.1842T>A (p.Ser614Arg) rs1060501523
NM_000051.4(ATM):c.1843C>G (p.Leu615Val) rs1380546088
NM_000051.4(ATM):c.1844T>A (p.Leu615His)
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1845C>T (p.Leu615=) rs1349398596
NM_000051.4(ATM):c.1845_1848dup (p.Met617fs) rs2080229346
NM_000051.4(ATM):c.1846A>G (p.Thr616Ala) rs587780615
NM_000051.4(ATM):c.1847C>G (p.Thr616Ser)
NM_000051.4(ATM):c.1847C>T (p.Thr616Ile) rs533129312
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)
NM_000051.4(ATM):c.1848T>C (p.Thr616=) rs1045549048
NM_000051.4(ATM):c.1849A>G (p.Met617Val) rs1555072530
NM_000051.4(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.4(ATM):c.185+10T>G rs1555054317
NM_000051.4(ATM):c.185+14A>G rs2135015612
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.185+16T>G
NM_000051.4(ATM):c.185+18A>C
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.185+3A>G rs1372755571
NM_000051.4(ATM):c.185+4T>G rs1060501685
NM_000051.4(ATM):c.185+6C>G rs1555054299
NM_000051.4(ATM):c.185+6C>T rs1555054299
NM_000051.4(ATM):c.185+9T>G
NM_000051.4(ATM):c.1851G>A (p.Met617Ile)
NM_000051.4(ATM):c.1856A>T (p.Asn619Ile)
NM_000051.4(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.4(ATM):c.1857del (p.Cys620fs) rs2135354155
NM_000051.4(ATM):c.1858T>A (p.Cys620Ser) rs2080230578
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg) rs2080230578
NM_000051.4(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.186-10T>C rs773957101
NM_000051.4(ATM):c.186-11T>C
NM_000051.4(ATM):c.186-13T>A rs2135032350
NM_000051.4(ATM):c.186-14T>A
NM_000051.4(ATM):c.186-18C>T rs1410616583
NM_000051.4(ATM):c.186-2A>G rs2078881350
NM_000051.4(ATM):c.186-4G>C
NM_000051.4(ATM):c.186-6T>C rs2078881202
NM_000051.4(ATM):c.186-8del rs1555055031
NM_000051.4(ATM):c.1866T>C (p.Ala622=) rs2135354414
NM_000051.4(ATM):c.1868C>T (p.Ala623Val)
NM_000051.4(ATM):c.1869A>G (p.Ala623=) rs1591531055
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.1870A>C (p.Met624Leu) rs863224557
NM_000051.4(ATM):c.1872G>C (p.Met624Ile) rs1060501530
NM_000051.4(ATM):c.1873A>T (p.Asn625Tyr) rs2080231346
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1881C>T (p.Phe627=) rs1555072574
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter) rs2135354813
NM_000051.4(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.4(ATM):c.1889T>C (p.Val630Ala) rs587782226
NM_000051.4(ATM):c.1890G>T (p.Val630=) rs1555072586
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu) rs756782634
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
NM_000051.4(ATM):c.1896A>G (p.Glu632=) rs2135355169
NM_000051.4(ATM):c.1897T>C (p.Cys633Arg) rs1555072606
NM_000051.4(ATM):c.1898+10C>G rs199570442
NM_000051.4(ATM):c.1898+16A>T
NM_000051.4(ATM):c.1898+18G>A rs2135355669
NM_000051.4(ATM):c.1898+19C>G
NM_000051.4(ATM):c.1898+19C>T
NM_000051.4(ATM):c.1898+1G>A rs758325274
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898+20T>G
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1898+5G>A rs1372634189
NM_000051.4(ATM):c.1898+5_1898+6delinsAA rs2135355386
NM_000051.4(ATM):c.1898+5del rs2135355372
NM_000051.4(ATM):c.1898+8A>T
NM_000051.4(ATM):c.1898G>C (p.Cys633Ser)
NM_000051.4(ATM):c.1899-10T>A
NM_000051.4(ATM):c.1899-11C>G rs730881282
NM_000051.4(ATM):c.1899-14T>C rs2135365137
NM_000051.4(ATM):c.1899-16T>A rs1352009139
NM_000051.4(ATM):c.1899-16T>C
NM_000051.4(ATM):c.1899-16_1899-15insA rs2135365068
NM_000051.4(ATM):c.1899-17A>G rs2135365023
NM_000051.4(ATM):c.1899-18G>T
NM_000051.4(ATM):c.1899-1G>A rs1555073065
NM_000051.4(ATM):c.1899-1G>T rs1555073065
NM_000051.4(ATM):c.1899-1_1902del
NM_000051.4(ATM):c.1899-23_1899-19del rs2135364890
NM_000051.4(ATM):c.1899-24_1899-5del
NM_000051.4(ATM):c.1899-2A>C
NM_000051.4(ATM):c.1899-3A>G rs1555073062
NM_000051.4(ATM):c.1899-3_1899-2delinsTG
NM_000051.4(ATM):c.1899-4G>A rs2135365402
NM_000051.4(ATM):c.1899-5T>C rs1591533679
NM_000051.4(ATM):c.1899-5T>G rs1591533679
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.1899-7C>G
NM_000051.4(ATM):c.1899-7C>T rs1060501584
NM_000051.4(ATM):c.1899-8T>A
NM_000051.4(ATM):c.1899-8T>C
NM_000051.4(ATM):c.1899-8_1904del rs2080290215
NM_000051.4(ATM):c.1899-8dup
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
NM_000051.4(ATM):c.189T>C (p.Phe63=) rs926466183
NM_000051.4(ATM):c.1901A>G (p.Glu634Gly) rs1555073069
NM_000051.4(ATM):c.1901A>T (p.Glu634Val) rs1555073069
NM_000051.4(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.4(ATM):c.1905C>A (p.His635Gln) rs1020808836
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.4(ATM):c.1906C>G (p.His636Asp)
NM_000051.4(ATM):c.1906C>T (p.His636Tyr) rs786203654
NM_000051.4(ATM):c.1906del (p.His636fs)
NM_000051.4(ATM):c.1908C>T (p.His636=) rs2135365854
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1914del (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1915G>C (p.Asp639His) rs1591533828
NM_000051.4(ATM):c.1916A>G (p.Asp639Gly) rs1591533846
NM_000051.4(ATM):c.1916A>T (p.Asp639Val) rs1591533846
NM_000051.4(ATM):c.1918A>G (p.Lys640Glu) rs879254190
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1918_1920del (p.Lys640del) rs2135366155
NM_000051.4(ATM):c.1919A>C (p.Lys640Thr) rs2135366191
NM_000051.4(ATM):c.1919A>G (p.Lys640Arg)
NM_000051.4(ATM):c.191T>G (p.Leu64Ter) rs1591451354
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.1920dup (p.Glu641fs) rs2080294213
NM_000051.4(ATM):c.1921G>C (p.Glu641Gln)
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1923A>G (p.Glu641=) rs2135366297
NM_000051.4(ATM):c.1924G>A (p.Glu642Lys) rs1057519364
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1926A>T (p.Glu642Asp) rs786201469
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr) rs1555073128
NM_000051.4(ATM):c.1930T>C (p.Ser644Pro)
NM_000051.4(ATM):c.1930del (p.Ser644fs)
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1931C>T (p.Ser644Leu)
NM_000051.4(ATM):c.1932A>G (p.Ser644=)
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
NM_000051.4(ATM):c.1935C>G (p.Phe645Leu) rs876659709
NM_000051.4(ATM):c.1935C>T (p.Phe645=) rs876659709
NM_000051.4(ATM):c.1936T>C (p.Ser646Pro) rs1485023251
NM_000051.4(ATM):c.1937C>A (p.Ser646Ter) rs1591534005
NM_000051.4(ATM):c.1937C>T (p.Ser646Leu)
NM_000051.4(ATM):c.1938A>G (p.Ser646=) rs1376318521
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys) rs1060501599
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1941A>C (p.Glu647Asp) rs2080297000
NM_000051.4(ATM):c.1942G>A (p.Val648Ile)
NM_000051.4(ATM):c.1944A>C (p.Val648=) rs1555073161
NM_000051.4(ATM):c.1944A>G (p.Val648=) rs1555073161
NM_000051.4(ATM):c.1945G>A (p.Glu649Lys) rs786202511
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del) rs1555073166
NM_000051.4(ATM):c.1948G>A (p.Glu650Lys) rs2135367169
NM_000051.4(ATM):c.1948G>C (p.Glu650Gln)
NM_000051.4(ATM):c.1948G>T (p.Glu650Ter)
NM_000051.4(ATM):c.194A>G (p.Gln65Arg) rs760471526
NM_000051.4(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.4(ATM):c.1952T>A (p.Leu651Gln) rs1555073179
NM_000051.4(ATM):c.1952T>C (p.Leu651Pro) rs1555073179
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.4(ATM):c.1956T>C (p.Phe652=)
NM_000051.4(ATM):c.1956_1959del (p.Leu653fs)
NM_000051.4(ATM):c.1957C>T (p.Leu653Phe)
NM_000051.4(ATM):c.195G>C (p.Gln65His) rs1555055072
NM_000051.4(ATM):c.1962G>T (p.Gln654His) rs1416371202
NM_000051.4(ATM):c.1963A>G (p.Thr655Ala)
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile) rs2080299187
NM_000051.4(ATM):c.1966del (p.Thr656fs) rs2135367757
NM_000051.4(ATM):c.1967C>T (p.Thr656Ile) rs754800755
NM_000051.4(ATM):c.1968T>C (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.1968T>G (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.196A>G (p.Lys66Glu) rs1565346656
NM_000051.4(ATM):c.196A>T (p.Lys66Ter) rs1565346656
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn) rs1343017824
NM_000051.4(ATM):c.1972G>C (p.Asp658His) rs1343017824
NM_000051.4(ATM):c.1973A>T (p.Asp658Val) rs1177954052
NM_000051.4(ATM):c.1974C>G (p.Asp658Glu) rs1555073229
NM_000051.4(ATM):c.1974C>T (p.Asp658=)
NM_000051.4(ATM):c.1975A>C (p.Lys659Gln)
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu)
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.4(ATM):c.1976A>T (p.Lys659Met) rs1565390043
NM_000051.4(ATM):c.1977G>A (p.Lys659=) rs1060501565
NM_000051.4(ATM):c.1977G>C (p.Lys659Asn) rs1060501565
NM_000051.4(ATM):c.1978del (p.Met660fs)
NM_000051.4(ATM):c.1979T>A (p.Met660Lys) rs1298234172
NM_000051.4(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.4(ATM):c.1980G>A (p.Met660Ile)
NM_000051.4(ATM):c.1980G>T (p.Met660Ile) rs2080301342
NM_000051.4(ATM):c.1981G>A (p.Asp661Asn) rs1029931261
NM_000051.4(ATM):c.1981G>C (p.Asp661His) rs1029931261
NM_000051.4(ATM):c.1982A>C (p.Asp661Ala) rs1565390124
NM_000051.4(ATM):c.1983C>T (p.Asp661=) rs2080301965
NM_000051.4(ATM):c.1988dup (p.Leu663fs)
NM_000051.4(ATM):c.1989A>G (p.Leu663=) rs786202748
NM_000051.4(ATM):c.198A>T (p.Lys66Asn) rs540920248
NM_000051.4(ATM):c.198dup (p.Tyr67fs) rs2135033137
NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)
NM_000051.4(ATM):c.1992dup (p.Ile665fs) rs2135368545
NM_000051.4(ATM):c.1993A>C (p.Ile665Leu) rs1060501645
NM_000051.4(ATM):c.1993A>G (p.Ile665Val) rs1060501645
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr) rs1064793789
NM_000051.4(ATM):c.1995T>A (p.Ile665=)
NM_000051.4(ATM):c.1995T>C (p.Ile665=) rs1555073271
NM_000051.4(ATM):c.1995del (p.Ile665fs) rs1591534382
NM_000051.4(ATM):c.1997del (p.Val666fs) rs2080303837
NM_000051.4(ATM):c.1998G>A (p.Val666=) rs748380150
NM_000051.4(ATM):c.1998G>C (p.Val666=) rs748380150
NM_000051.4(ATM):c.19G>C (p.Asp7His) rs2078806188
NM_000051.4(ATM):c.19G>T (p.Asp7Tyr)
NM_000051.4(ATM):c.19_21del (p.Asp7del)
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2008G>A (p.Gly670Ser)
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp) rs887944555
NM_000051.4(ATM):c.2009G>T (p.Gly670Val) rs887944555
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.4(ATM):c.2010T>C (p.Gly670=) rs2135368892
NM_000051.4(ATM):c.2011A>G (p.Ile671Val) rs730881344
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln) rs2080305905
NM_000051.4(ATM):c.2019del (p.Lys673fs) rs1591534511
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2020C>T (p.His674Tyr)
NM_000051.4(ATM):c.2022C>A (p.His674Gln) rs2080306836
NM_000051.4(ATM):c.2022C>G (p.His674Gln) rs2080306836
NM_000051.4(ATM):c.2023del (p.Gln675fs)
NM_000051.4(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.4(ATM):c.2029A>G (p.Ser677Gly) rs568026188
NM_000051.4(ATM):c.2029A>T (p.Ser677Cys)
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) rs2080308052
NM_000051.4(ATM):c.2031T>C (p.Ser677=) rs1591534580
NM_000051.4(ATM):c.2032del (p.Ile678fs) rs2135369537
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2034T>A (p.Ile678=) rs1013513956
NM_000051.4(ATM):c.2034T>C (p.Ile678=) rs1013513956
NM_000051.4(ATM):c.2038T>C (p.Phe680Leu)
NM_000051.4(ATM):c.203T>C (p.Ile68Thr) rs1591451502
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys) rs1060501585
NM_000051.4(ATM):c.2042C>T (p.Ser681Phe) rs1060501585
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2044G>C (p.Val682Leu)
NM_000051.4(ATM):c.2044G>T (p.Val682Phe) rs2135369797
NM_000051.4(ATM):c.2044_2057del (p.Val682fs) rs2135369731
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)
NM_000051.4(ATM):c.2046C>G (p.Val682=) rs1591534664
NM_000051.4(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.4(ATM):c.2052G>C (p.Gln684His) rs775890872
NM_000051.4(ATM):c.2054A>G (p.Asn685Ser) rs1412443702
NM_000051.4(ATM):c.2054A>T (p.Asn685Ile) rs1412443702
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.2058C>G (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2058C>T (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2059A>C (p.Lys687Gln) rs2135370162
NM_000051.4(ATM):c.2059_2065del (p.Lys687fs)
NM_000051.4(ATM):c.205C>A (p.Gln69Lys) rs876660631
NM_000051.4(ATM):c.2060A>G (p.Lys687Arg) rs2080312441
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter) rs769338089
NM_000051.4(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.4(ATM):c.2064_2072del (p.Glu688_Leu690del) rs2135370232
NM_000051.4(ATM):c.2064del (p.Glu688fs)
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu) rs1591534804
NM_000051.4(ATM):c.2067A>G (p.Ser689=) rs1555073434
NM_000051.4(ATM):c.2068C>A (p.Leu690Met) rs1555073437
NM_000051.4(ATM):c.2068C>T (p.Leu690=) rs1555073437
NM_000051.4(ATM):c.2069T>C (p.Leu690Pro) rs1555073438
NM_000051.4(ATM):c.206A>G (p.Gln69Arg)
NM_000051.4(ATM):c.2070G>A (p.Leu690=)
NM_000051.4(ATM):c.2071G>C (p.Asp691His) rs762394404
NM_000051.4(ATM):c.2074C>G (p.Arg692Gly)
NM_000051.4(ATM):c.2074_2124+280del
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe) rs2135370698
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg) rs879254178
NM_000051.4(ATM):c.2086G>C (p.Gly696Arg)
NM_000051.4(ATM):c.2086G>T (p.Gly696Ter) rs879254178
NM_000051.4(ATM):c.2086_2087dup
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu) rs752550257
NM_000051.4(ATM):c.2087G>T (p.Gly696Val) rs752550257
NM_000051.4(ATM):c.2088A>T (p.Gly696=) rs1555073469
NM_000051.4(ATM):c.2089T>C (p.Leu697=)
NM_000051.4(ATM):c.208A>G (p.Lys70Glu)
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter) rs1591534936
NM_000051.4(ATM):c.2091A>G (p.Leu697=) rs2135371070
NM_000051.4(ATM):c.2092T>G (p.Ser698Ala) rs2135371120
NM_000051.4(ATM):c.2093C>G (p.Ser698Ter) rs2135371158
NM_000051.4(ATM):c.2093C>T (p.Ser698Leu)
NM_000051.4(ATM):c.2094A>C (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2094A>G (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.4(ATM):c.2097A>G (p.Glu699=) rs777887012
NM_000051.4(ATM):c.2098C>A (p.Gln700Lys) rs786202743
NM_000051.4(ATM):c.2098C>G (p.Gln700Glu) rs786202743
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2102T>C (p.Leu701Pro)
NM_000051.4(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.4(ATM):c.2104C>T (p.Leu702=) rs1555073490
NM_000051.4(ATM):c.2107A>C (p.Asn703His) rs2135371578
NM_000051.4(ATM):c.2108A>G (p.Asn703Ser) rs587781304
NM_000051.4(ATM):c.210A>G (p.Lys70=) rs1064793030
NM_000051.4(ATM):c.2111A>G (p.Asn704Ser) rs753903558
NM_000051.4(ATM):c.2111_2114del (p.Asn704fs) rs2080316641
NM_000051.4(ATM):c.2112T>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2112T>G (p.Asn704Lys)
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)
NM_000051.4(ATM):c.2113T>C (p.Tyr705His) rs757260641
NM_000051.4(ATM):c.2113T>G (p.Tyr705Asp)
NM_000051.4(ATM):c.2113_2116del (p.Tyr705fs) rs2135371753
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2114A>G (p.Tyr705Cys)
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter) rs2080317430
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.4(ATM):c.2116T>A (p.Ser706Thr)
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala) rs536609092
NM_000051.4(ATM):c.2116_2117del (p.Ser706fs) rs1591535064
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.4(ATM):c.2123A>G (p.Glu708Gly) rs2080318638
NM_000051.4(ATM):c.2124+12T>A rs61278354
NM_000051.4(ATM):c.2124+12del rs769051992
NM_000051.4(ATM):c.2124+12dup rs769051992
NM_000051.4(ATM):c.2124+15A>G
NM_000051.4(ATM):c.2124+16_2124+19del rs35211268
NM_000051.4(ATM):c.2124+19del rs35211268
NM_000051.4(ATM):c.2124+19dup rs35211268
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2124+1del rs2080318979
NM_000051.4(ATM):c.2124+20G>A
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2124+6A>G rs550998406
NM_000051.4(ATM):c.2124+9T>A rs1591535203
NM_000051.4(ATM):c.2125-12G>A rs2135391706
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2125-14T>C
NM_000051.4(ATM):c.2125-15G>T
NM_000051.4(ATM):c.2125-15_2125-9del rs2135391517
NM_000051.4(ATM):c.2125-15_2128del rs1064792940
NM_000051.4(ATM):c.2125-16T>C rs1057523016
NM_000051.4(ATM):c.2125-17T>C rs1373576656
NM_000051.4(ATM):c.2125-18T>C
NM_000051.4(ATM):c.2125-19A>C rs2080469665
NM_000051.4(ATM):c.2125-19A>T rs2080469665
NM_000051.4(ATM):c.2125-1G>A rs1402299151
NM_000051.4(ATM):c.2125-2A>C rs1565394403
NM_000051.4(ATM):c.2125-2_2128del rs2135391894
NM_000051.4(ATM):c.2125-4T>C rs1064795623
NM_000051.4(ATM):c.2125-4dup rs2135391852
NM_000051.4(ATM):c.2125-5T>C
NM_000051.4(ATM):c.2125-5T>G rs2080471238
NM_000051.4(ATM):c.2125-7C>A rs2135391832
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2125-9T>C rs2135391794
NM_000051.4(ATM):c.2125A>C (p.Ile709Leu) rs864622259
NM_000051.4(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.4(ATM):c.2125A>T (p.Ile709Phe) rs864622259
NM_000051.4(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2126T>A (p.Ile709Asn) rs2135392028
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2129C>A (p.Thr710Lys) rs1565394456
NM_000051.4(ATM):c.2130A>C (p.Thr710=)
NM_000051.4(ATM):c.2131_2136dup (p.Ser712_Glu713insAsnSer)
NM_000051.4(ATM):c.2134T>A (p.Ser712Thr) rs1565394509
NM_000051.4(ATM):c.2134T>C (p.Ser712Pro)
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.4(ATM):c.2134del (p.Ser712fs) rs1591541888
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2135C>T (p.Ser712Leu) rs1057516620
NM_000051.4(ATM):c.2139A>G (p.Glu713=) rs2080473610
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala) rs2080473704
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2141C>A (p.Thr714Asn)
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser) rs1555074846
NM_000051.4(ATM):c.2143C>G (p.Leu715Val) rs758864982
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro) rs1555074855
NM_000051.4(ATM):c.2144T>G (p.Leu715Arg) rs1555074855
NM_000051.4(ATM):c.2145T>G (p.Leu715=) rs2080474170
NM_000051.4(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.4(ATM):c.2147T>G (p.Val716Gly) rs864622294
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2149C>A (p.Arg717=) rs147515380
NM_000051.4(ATM):c.214A>G (p.Thr72Ala) rs1223998386
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2152dup (p.Cys718fs) rs2135392702
NM_000051.4(ATM):c.2155T>C (p.Ser719Pro)
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu) rs2080475075
NM_000051.4(ATM):c.2157A>G (p.Ser719=) rs1591542014
NM_000051.4(ATM):c.2157A>T (p.Ser719=)
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2159G>C (p.Arg720Pro) rs55830714
NM_000051.4(ATM):c.215C>A (p.Thr72Lys) rs876658893
NM_000051.4(ATM):c.215C>G (p.Thr72Arg) rs876658893
NM_000051.4(ATM):c.2162T>C (p.Leu721Pro) rs2080475582
NM_000051.4(ATM):c.2162T>G (p.Leu721Arg) rs2080475582
NM_000051.4(ATM):c.2163T>C (p.Leu721=) rs1591542057
NM_000051.4(ATM):c.2164T>C (p.Leu722=)
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe) rs1555074886
NM_000051.4(ATM):c.2167G>A (p.Val723Met)
NM_000051.4(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.4(ATM):c.2170_2200del (p.Val723_Gly724insTer)
NM_000051.4(ATM):c.2171G>A (p.Gly724Asp) rs1555074904
NM_000051.4(ATM):c.2172T>C (p.Gly724=) rs1591542120
NM_000051.4(ATM):c.2172T>G (p.Gly724=) rs1591542120
NM_000051.4(ATM):c.2173G>A (p.Val725Ile) rs1272918725
NM_000051.4(ATM):c.2174T>A (p.Val725Asp) rs1565394761
NM_000051.4(ATM):c.2176C>G (p.Leu726Val) rs775266056
NM_000051.4(ATM):c.2178T>C (p.Leu726=) rs1591542185
NM_000051.4(ATM):c.2179G>A (p.Gly727Ser) rs2080477463
NM_000051.4(ATM):c.217G>A (p.Glu73Lys) rs1555055119
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.217del (p.Glu73fs)
NM_000051.4(ATM):c.2180G>A (p.Gly727Asp) rs1446080226
NM_000051.4(ATM):c.2181C>G (p.Gly727=) rs876658836
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.4(ATM):c.2184C>T (p.Cys728=) rs1555074933
NM_000051.4(ATM):c.2185T>C (p.Tyr729His) rs1190793955
NM_000051.4(ATM):c.2186A>G (p.Tyr729Cys) rs1555074940
NM_000051.4(ATM):c.2190T>C (p.Cys730=) rs876659949
NM_000051.4(ATM):c.2192A>G (p.Tyr731Cys)
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2193del (p.Cys730_Tyr731insTer) rs2080479088
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)
NM_000051.4(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.4(ATM):c.2196G>A (p.Met732Ile) rs2135393803
NM_000051.4(ATM):c.2199T>C (p.Gly733=) rs1591542359
NM_000051.4(ATM):c.2200G>A (p.Val734Ile) rs1390127104
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2200dup (p.Val734fs)
NM_000051.4(ATM):c.2201_2202insC (p.Ile735fs) rs1459299108
NM_000051.4(ATM):c.2204T>C (p.Ile735Thr) rs1565395012
NM_000051.4(ATM):c.2205A>G (p.Ile735Met) rs2135394034
NM_000051.4(ATM):c.2205_2208del (p.Ile735fs) rs2135394014
NM_000051.4(ATM):c.2206G>A (p.Ala736Thr) rs2080480637
NM_000051.4(ATM):c.2207C>G (p.Ala736Gly)
NM_000051.4(ATM):c.2208T>G (p.Ala736=) rs761874856
NM_000051.4(ATM):c.2209G>A (p.Glu737Lys) rs2135394119
NM_000051.4(ATM):c.220T>A (p.Cys74Ser) rs1565346819
NM_000051.4(ATM):c.2210A>G (p.Glu737Gly)
NM_000051.4(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys) rs1565395076
NM_000051.4(ATM):c.2217A>T (p.Glu739Asp)
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr) rs786201866
NM_000051.4(ATM):c.2218G>C (p.Ala740Pro) rs786201866
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr) rs864622515
NM_000051.4(ATM):c.2220A>T (p.Ala740=) rs56353517
NM_000051.4(ATM):c.2222A>C (p.Tyr741Ser) rs878853492
NM_000051.4(ATM):c.2222A>T (p.Tyr741Phe) rs878853492
NM_000051.4(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr) rs2135394428
NM_000051.4(ATM):c.2226G>C (p.Lys742Asn) rs2080482083
NM_000051.4(ATM):c.2228C>G (p.Ser743Ter) rs2080482247
NM_000051.4(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.4(ATM):c.2232A>G (p.Glu744=) rs2080482588
NM_000051.4(ATM):c.2232A>T (p.Glu744Asp) rs2080482588
NM_000051.4(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter) rs2080483369
NM_000051.4(ATM):c.2243A>G (p.Lys748Arg)
NM_000051.4(ATM):c.2244A>G (p.Lys748=) rs1591542559
NM_000051.4(ATM):c.2244A>T (p.Lys748Asn) rs1591542559
NM_000051.4(ATM):c.2245G>A (p.Ala749Thr) rs876660163
NM_000051.4(ATM):c.2245G>C (p.Ala749Pro) rs876660163
NM_000051.4(ATM):c.2246C>G (p.Ala749Gly) rs867443346
NM_000051.4(ATM):c.2247C>T (p.Ala749=)
NM_000051.4(ATM):c.2247del (p.Lys750fs)
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu) rs2080484145
NM_000051.4(ATM):c.2250+13A>G rs1290519111
NM_000051.4(ATM):c.2250+15A>C rs1057523706
NM_000051.4(ATM):c.2250+15A>G rs1057523706
NM_000051.4(ATM):c.2250+16C>G rs2135395339
NM_000051.4(ATM):c.2250+16C>T
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2250+20T>A rs377570109
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2250+3A>G rs2080484745
NM_000051.4(ATM):c.2250+5G>C rs1555075047
NM_000051.4(ATM):c.2250+7G>A rs752009031
NM_000051.4(ATM):c.2250+7G>T rs752009031
NM_000051.4(ATM):c.2250+8A>T rs1555075054
NM_000051.4(ATM):c.2250+9A>C rs755569951
NM_000051.4(ATM):c.2250+9A>G rs755569951
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn) rs1137887
NM_000051.4(ATM):c.2251-11A>C
NM_000051.4(ATM):c.2251-12T>C
NM_000051.4(ATM):c.2251-13C>A
NM_000051.4(ATM):c.2251-13C>G
NM_000051.4(ATM):c.2251-13C>T
NM_000051.4(ATM):c.2251-14T>A rs751677125
NM_000051.4(ATM):c.2251-15T>A rs1565396892
NM_000051.4(ATM):c.2251-15T>C rs1565396892
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-1G>C rs876659710
NM_000051.4(ATM):c.2251-1_2257dup rs2080573042
NM_000051.4(ATM):c.2251-2A>G rs2135405559
NM_000051.4(ATM):c.2251-3T>C rs752951518
NM_000051.4(ATM):c.2251-3T>G
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2251-5A>C
NM_000051.4(ATM):c.2251-5A>T
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr) rs1064793558
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro) rs2135405669
NM_000051.4(ATM):c.2257A>T (p.Met753Leu)
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
NM_000051.4(ATM):c.2262del (p.Gln754fs) rs2080573967
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.4(ATM):c.2267C>A (p.Ala756Glu)
NM_000051.4(ATM):c.2268A>G (p.Ala756=) rs1057522845
NM_000051.4(ATM):c.2270G>T (p.Gly757Val) rs375091571
NM_000051.4(ATM):c.2270del (p.Gly757fs) rs1565397022
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.4(ATM):c.2275A>T (p.Ser759Cys)
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.4(ATM):c.2276G>C (p.Ser759Thr)
NM_000051.4(ATM):c.2278A>C (p.Ile760Leu)
NM_000051.4(ATM):c.2278A>G (p.Ile760Val) rs1555075672
NM_000051.4(ATM):c.2279T>C (p.Ile760Thr)
NM_000051.4(ATM):c.227G>A (p.Arg76Lys) rs1565346853
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala) rs2235011
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)
NM_000051.4(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2285T>C (p.Leu762Pro) rs2080576437
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.4(ATM):c.2289T>C (p.Phe763=)
NM_000051.4(ATM):c.2289_2295del (p.Phe763fs) rs1555075690
NM_000051.4(ATM):c.228A>C (p.Arg76Ser) rs1591451698
NM_000051.4(ATM):c.228A>G (p.Arg76=) rs1591451698
NM_000051.4(ATM):c.2290A>C (p.Lys764Gln)
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg) rs2080576982
NM_000051.4(ATM):c.2294A>G (p.Asn765Ser)
NM_000051.4(ATM):c.2295T>C (p.Asn765=) rs1444950103
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.2296A>G (p.Lys766Glu) rs748125666
NM_000051.4(ATM):c.2297A>G (p.Lys766Arg)
NM_000051.4(ATM):c.2299A>G (p.Thr767Ala)
NM_000051.4(ATM):c.229A>C (p.Ile77Leu) rs1064796032
NM_000051.4(ATM):c.229dup (p.Ile77fs) rs1565346867
NM_000051.4(ATM):c.22C>T (p.Leu8=) rs2135004594
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs) rs1565397179
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser) rs2080577809
NM_000051.4(ATM):c.2304T>C (p.Asn768=) rs2135406753
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs) rs2080577927
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys) rs1591546453
NM_000051.4(ATM):c.2306A>G (p.Glu769Gly) rs1377126475
NM_000051.4(ATM):c.2307G>A (p.Glu769=)
NM_000051.4(ATM):c.2308G>A (p.Glu770Lys) rs1555075721
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter) rs1555075721
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly) rs1565397219
NM_000051.4(ATM):c.2316A>C (p.Arg772Ser) rs2135407049
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.4(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.4(ATM):c.2326T>C (p.Leu776=) rs762937809
NM_000051.4(ATM):c.2329A>C (p.Arg777=) rs1565397263
NM_000051.4(ATM):c.2329A>T (p.Arg777Ter) rs1565397263
NM_000051.4(ATM):c.232G>A (p.Ala78Thr) rs878853493
NM_000051.4(ATM):c.2330G>A (p.Arg777Lys) rs876660432
NM_000051.4(ATM):c.2331A>T (p.Arg777Ser)
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp) rs1555075751
NM_000051.4(ATM):c.2334T>C (p.Asn778=) rs1555075758
NM_000051.4(ATM):c.2335A>G (p.Met779Val)
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del) rs1555075763
NM_000051.4(ATM):c.2338A>G (p.Met780Val) rs587781446
NM_000051.4(ATM):c.2339T>C (p.Met780Thr)
NM_000051.4(ATM):c.233C>G (p.Ala78Gly) rs876659669
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter) rs1555075781
NM_000051.4(ATM):c.2343G>A (p.Gln781=) rs2135407606
NM_000051.4(ATM):c.2345T>C (p.Leu782Pro) rs2135407647
NM_000051.4(ATM):c.2345dup (p.Cys783fs) rs1591546645
NM_000051.4(ATM):c.2347T>G (p.Cys783Gly) rs1555075786
NM_000051.4(ATM):c.234A>G (p.Ala78=) rs1555055145
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile) rs2135407791
NM_000051.4(ATM):c.2352A>G (p.Thr784=) rs759679953
NM_000051.4(ATM):c.2352A>T (p.Thr784=) rs759679953
NM_000051.4(ATM):c.2354G>T (p.Arg785Leu) rs587782128
NM_000051.4(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.4(ATM):c.2356T>C (p.Cys786Arg) rs1565397441
NM_000051.4(ATM):c.2356T>G (p.Cys786Gly)
NM_000051.4(ATM):c.2357G>A (p.Cys786Tyr)
NM_000051.4(ATM):c.2360T>G (p.Leu787Trp) rs2135408030
NM_000051.4(ATM):c.2361G>T (p.Leu787Phe) rs2080584367
NM_000051.4(ATM):c.2362A>G (p.Ser788Gly) rs641252
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn) rs1555075809
NM_000051.4(ATM):c.2363_2364del (p.Ser788fs) rs2080584788
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg) rs2135408164
NM_000051.4(ATM):c.2364C>T (p.Ser788=) rs2135408164
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser) rs1591546766
NM_000051.4(ATM):c.2367C>G (p.Asn789Lys) rs2080585059
NM_000051.4(ATM):c.2367C>T (p.Asn789=) rs2080585059
NM_000051.4(ATM):c.236A>G (p.Lys79Arg) rs1591451757
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile) rs2135408339
NM_000051.4(ATM):c.2376+11C>T
NM_000051.4(ATM):c.2376+14C>A rs2135408701
NM_000051.4(ATM):c.2376+16del rs779169817
NM_000051.4(ATM):c.2376+17C>G
NM_000051.4(ATM):c.2376+17_2376+18del
NM_000051.4(ATM):c.2376+18T>A
NM_000051.4(ATM):c.2376+18T>C rs1555075849
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+1G>T rs730881347
NM_000051.4(ATM):c.2376+20G>A rs140364468
NM_000051.4(ATM):c.2376+20_2376+22del rs1171212629
NM_000051.4(ATM):c.2376+2T>C rs2135408476
NM_000051.4(ATM):c.2376+2T>G
NM_000051.4(ATM):c.2376+3A>G rs758083563
NM_000051.4(ATM):c.2376+4A>G
NM_000051.4(ATM):c.2376+5G>T
NM_000051.4(ATM):c.2376+5_2376+13dup
NM_000051.4(ATM):c.2376+7T>A
NM_000051.4(ATM):c.2376+7T>C
NM_000051.4(ATM):c.2376+7T>G rs2135408560
NM_000051.4(ATM):c.2376+8T>A rs2135408581
NM_000051.4(ATM):c.2376+8T>C
NM_000051.4(ATM):c.2376+8T>G rs2135408581
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2377-11C>A rs2080691297
NM_000051.4(ATM):c.2377-11C>G rs2080691297
NM_000051.4(ATM):c.2377-12T>C
NM_000051.4(ATM):c.2377-14del
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2377-16T>A rs1009142114
NM_000051.4(ATM):c.2377-20_2377-18del rs2080689774
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377-2A>T rs1057516553
NM_000051.4(ATM):c.2377-350A>G
NM_000051.4(ATM):c.2377-5T>C rs754206007
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2377-9T>A rs2080691443
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.2378A>G (p.Lys793Arg) rs2080692590
NM_000051.4(ATM):c.237A>G (p.Lys79=) rs1160350816
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg) rs876658149
NM_000051.4(ATM):c.2381G>C (p.Ser794Thr)
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg) rs1555076601
NM_000051.4(ATM):c.2382T>C (p.Ser794=) rs1555076601
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
NM_000051.4(ATM):c.2383C>G (p.Pro795Ala) rs1060501651
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser) rs1060501651
NM_000051.4(ATM):c.2385A>G (p.Pro795=) rs2135420750
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2386A>G (p.Asn796Asp)
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser) rs1555076612
NM_000051.4(ATM):c.2390A>C (p.Lys797Thr) rs2135420825
NM_000051.4(ATM):c.2391G>T (p.Lys797Asn)
NM_000051.4(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.4(ATM):c.2395G>A (p.Ala799Thr) rs1591551217
NM_000051.4(ATM):c.2396_2407del (p.Ala799_Phe803delinsVal)
NM_000051.4(ATM):c.2397A>C (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2397A>G (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2397A>T (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.239C>T (p.Pro80Leu) rs876659996
NM_000051.4(ATM):c.23T>C (p.Leu8Pro) rs1555053885
NM_000051.4(ATM):c.23T>G (p.Leu8Arg) rs1555053885
NM_000051.4(ATM):c.2400T>A (p.Ser800=)
NM_000051.4(ATM):c.2401G>A (p.Gly801Ser) rs1565399865
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp) rs1591551289
NM_000051.4(ATM):c.2403C>A (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile) rs2080695065
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu) rs2080695332
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.4(ATM):c.2408del (p.Phe803fs)
NM_000051.4(ATM):c.2409C>G (p.Phe803Leu) rs1416444032
NM_000051.4(ATM):c.2409C>T (p.Phe803=) rs1416444032
NM_000051.4(ATM):c.2410C>T (p.Leu804=) rs1591551341
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly) rs780619951
NM_000051.4(ATM):c.2415A>G (p.Arg805=)
NM_000051.4(ATM):c.2416T>C (p.Leu806=) rs1591551376
NM_000051.4(ATM):c.2417T>G (p.Leu806Trp) rs1565399936
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile) rs2080697096
NM_000051.4(ATM):c.2424A>C (p.Thr808=)
NM_000051.4(ATM):c.2424A>G (p.Thr808=) rs1555076671
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2426del (p.Thr808_Ser809insTer) rs2135421629
NM_000051.4(ATM):c.2427A>G (p.Ser809=) rs1591551435
NM_000051.4(ATM):c.2429A>T (p.Lys810Met) rs2080698039
NM_000051.4(ATM):c.2429del (p.Lys810fs)
NM_000051.4(ATM):c.242A>G (p.Asn81Ser) rs2135034894
NM_000051.4(ATM):c.2430G>A (p.Lys810=) rs1555076689
NM_000051.4(ATM):c.2431C>T (p.Leu811=) rs2135421739
NM_000051.4(ATM):c.2432del (p.Leu811fs) rs2135421772
NM_000051.4(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.4(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.4(ATM):c.2436G>T (p.Met812Ile)
NM_000051.4(ATM):c.2438A>G (p.Asn813Ser)
NM_000051.4(ATM):c.2438del (p.Asn813fs) rs2135421887
NM_000051.4(ATM):c.2439T>A (p.Asn813Lys)
NM_000051.4(ATM):c.243T>C (p.Asn81=) rs1591451819
NM_000051.4(ATM):c.2440G>A (p.Asp814Asn) rs2135421927
NM_000051.4(ATM):c.2441A>T (p.Asp814Val) rs1565400035
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2444T>C (p.Ile815Thr) rs2135422030
NM_000051.4(ATM):c.2444T>G (p.Ile815Ser)
NM_000051.4(ATM):c.2445T>G (p.Ile815Met) rs2080699276
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.4(ATM):c.2447C>G (p.Ala816Gly) rs1351798568
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn) rs587778067
NM_000051.4(ATM):c.2449G>T (p.Asp817Tyr) rs587778067
NM_000051.4(ATM):c.244G>A (p.Val82Ile) rs1412024666
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.4(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.4(ATM):c.2452A>C (p.Ile818Leu) rs2080700458
NM_000051.4(ATM):c.2452A>G (p.Ile818Val) rs2080700458
NM_000051.4(ATM):c.2453T>C (p.Ile818Thr) rs1591551563
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr) rs1591551588
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu) rs2080701196
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2464_2465dup (p.Leu822fs) rs2135422402
NM_000051.4(ATM):c.2464_2466+2del rs2135422352
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2465dup (p.Leu822fs)
NM_000051.4(ATM):c.2466+10C>A rs759158068
NM_000051.4(ATM):c.2466+10C>T rs759158068
NM_000051.4(ATM):c.2466+10_2466+16del
NM_000051.4(ATM):c.2466+13C>G
NM_000051.4(ATM):c.2466+16G>A rs2135422757
NM_000051.4(ATM):c.2466+19T>C
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2466+20T>C
NM_000051.4(ATM):c.2466+2T>A rs878853495
NM_000051.4(ATM):c.2466+2T>C
NM_000051.4(ATM):c.2466+2T>G rs878853495
NM_000051.4(ATM):c.2466+3A>C
NM_000051.4(ATM):c.2466+3A>G
NM_000051.4(ATM):c.2466+4A>C rs563482577
NM_000051.4(ATM):c.2466+4A>G rs563482577
NM_000051.4(ATM):c.2466+5G>A rs1064795969
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2466+5G>T rs1064795969
NM_000051.4(ATM):c.2466+6T>C rs2135422532
NM_000051.4(ATM):c.2466+7A>T rs55812024
NM_000051.4(ATM):c.2466+8T>A rs765619483
NM_000051.4(ATM):c.2466+8T>C rs765619483
NM_000051.4(ATM):c.2466+9G>A
NM_000051.4(ATM):c.2466+9G>T rs2135422617
NM_000051.4(ATM):c.2466+9dup
NM_000051.4(ATM):c.2467-11C>G
NM_000051.4(ATM):c.2467-11C>T rs1267435091
NM_000051.4(ATM):c.2467-12T>C rs1469467036
NM_000051.4(ATM):c.2467-13C>G
NM_000051.4(ATM):c.2467-17G>A
NM_000051.4(ATM):c.2467-17_2467-14del
NM_000051.4(ATM):c.2467-19T>G rs2135504690
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2467-20T>G
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2467-4G>A rs1555082048
NM_000051.4(ATM):c.2467-4G>T rs1555082048
NM_000051.4(ATM):c.2467-7dup rs762495417
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2467-8C>T rs1425701157
NM_000051.4(ATM):c.2467G>A (p.Ala823Thr) rs786202895
NM_000051.4(ATM):c.2467G>C (p.Ala823Pro)
NM_000051.4(ATM):c.2467G>T (p.Ala823Ser) rs786202895
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe) rs1555082060
NM_000051.4(ATM):c.2472C>G (p.Ser824=) rs786203289
NM_000051.4(ATM):c.2472C>T (p.Ser824=) rs786203289
NM_000051.4(ATM):c.2473T>G (p.Phe825Val) rs2081300268
NM_000051.4(ATM):c.2476A>G (p.Ile826Val) rs587782397
NM_000051.4(ATM):c.2478C>G (p.Ile826Met) rs1591587125
NM_000051.4(ATM):c.2483A>T (p.Lys828Met) rs2081301026
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.2484G>A (p.Lys828=)
NM_000051.4(ATM):c.2484G>T (p.Lys828Asn)
NM_000051.4(ATM):c.2484del (p.Lys828fs)
NM_000051.4(ATM):c.2485C>A (p.Pro829Thr) rs1060501546
NM_000051.4(ATM):c.2485C>G (p.Pro829Ala) rs1060501546
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.4(ATM):c.2486C>G (p.Pro829Arg)
NM_000051.4(ATM):c.2486C>T (p.Pro829Leu) rs1565416001
NM_000051.4(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2487dup (p.Phe830fs) rs2135505571
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser) rs773582901
NM_000051.4(ATM):c.248C>T (p.Ser83Leu)
NM_000051.4(ATM):c.248del (p.Val82_Ser83insTer) rs2135035121
NM_000051.4(ATM):c.2491G>A (p.Asp831Asn) rs1060501595
NM_000051.4(ATM):c.2491G>T (p.Asp831Tyr) rs1060501595
NM_000051.4(ATM):c.2492A>T (p.Asp831Val) rs587781352
NM_000051.4(ATM):c.2493C>T (p.Asp831=) rs2135505712
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser) rs2229022
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly) rs2229022
NM_000051.4(ATM):c.2494dup (p.Arg832fs) rs1131691165
NM_000051.4(ATM):c.2495G>C (p.Arg832Pro) rs199875915
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2497G>A (p.Gly833Arg) rs876658804
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.2499A>C (p.Gly833=) rs1060504263
NM_000051.4(ATM):c.249A>C (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.249A>G (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.249A>T (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.24G>A (p.Leu8=) rs1555053888
NM_000051.4(ATM):c.24_26del (p.Leu9del)
NM_000051.4(ATM):c.24_29dup (p.Leu9_Ile10insMetLeu)
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu) rs879254208
NM_000051.4(ATM):c.2502A>G (p.Glu834=) rs1591587377
NM_000051.4(ATM):c.2502del (p.Glu834_Val835insTer)
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2503G>T (p.Val835Leu) rs757151992
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2504T>A (p.Val835Glu) rs765118015
NM_000051.4(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.4(ATM):c.2508A>G (p.Glu836=) rs2135506209
NM_000051.4(ATM):c.2508A>T (p.Glu836Asp) rs2135506209
NM_000051.4(ATM):c.2508dup (p.Ser837fs) rs770396940
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2510C>T (p.Ser837Leu)
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2514G>T (p.Met838Ile) rs2135506364
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln) rs1246807453
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala) rs1591587459
NM_000051.4(ATM):c.2516A>G (p.Glu839Gly)
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.4(ATM):c.2519A>G (p.Asp840Gly) rs786202605
NM_000051.4(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.4(ATM):c.2520T>C (p.Asp840=) rs1591587498
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu) rs1591587498
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly) rs587781812
NM_000051.4(ATM):c.2522A>T (p.Asp841Val)
NM_000051.4(ATM):c.2523T>C (p.Asp841=) rs758234872
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.4(ATM):c.2526T>A (p.Thr842=)
NM_000051.4(ATM):c.2528_2529del (p.Asn843fs)
NM_000051.4(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.4(ATM):c.252C>T (p.Ala84=)
NM_000051.4(ATM):c.2530_2535del (p.Gly844_Asn845del) rs956305036
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala) rs587781808
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2534A>G (p.Asn845Ser) rs1060501591
NM_000051.4(ATM):c.2534del (p.Asn845fs) rs1591587673
NM_000051.4(ATM):c.2536C>G (p.Leu846Val) rs1555082186
NM_000051.4(ATM):c.2537T>C (p.Leu846Pro) rs2135507057
NM_000051.4(ATM):c.2538A>C (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2538A>G (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.4(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.4(ATM):c.253T>C (p.Ser85Pro)
NM_000051.4(ATM):c.2540T>A (p.Met847Lys) rs1382712243
NM_000051.4(ATM):c.2540T>C (p.Met847Thr)
NM_000051.4(ATM):c.2541G>A (p.Met847Ile) rs864622131
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln) rs879254046
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly) rs1060501555
NM_000051.4(ATM):c.2544G>A (p.Glu848=) rs1060501601
NM_000051.4(ATM):c.2544G>C (p.Glu848Asp) rs1060501601
NM_000051.4(ATM):c.2544G>T (p.Glu848Asp) rs1060501601
NM_000051.4(ATM):c.2545G>T (p.Val849Leu) rs1591587875
NM_000051.4(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.4(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter) rs587782280
NM_000051.4(ATM):c.2549A>G (p.Glu850Gly) rs876660456
NM_000051.4(ATM):c.2551G>A (p.Asp851Asn) rs1555082218
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
NM_000051.4(ATM):c.2553T>A (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2553_2638+61del rs2135507457
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
NM_000051.4(ATM):c.2555A>G (p.Gln852Arg) rs1265258461
NM_000051.4(ATM):c.2556G>A (p.Gln852=) rs2081307368
NM_000051.4(ATM):c.2556G>C (p.Gln852His) rs2081307368
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.4(ATM):c.2558C>T (p.Ser853Leu) rs1555082235
NM_000051.4(ATM):c.2559A>G (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.2559A>T (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.255A>C (p.Ser85=)
NM_000051.4(ATM):c.255A>G (p.Ser85=) rs2135035403
NM_000051.4(ATM):c.2560T>C (p.Ser854Pro) rs1060501632
NM_000051.4(ATM):c.2562C>T (p.Ser854=)
NM_000051.4(ATM):c.2563A>G (p.Met855Val) rs749844591
NM_000051.4(ATM):c.2563A>T (p.Met855Leu) rs749844591
NM_000051.4(ATM):c.2564dup (p.Met855fs) rs730881299
NM_000051.4(ATM):c.2565G>C (p.Met855Ile) rs2081308163
NM_000051.4(ATM):c.2565G>T (p.Met855Ile) rs2081308163
NM_000051.4(ATM):c.2566A>C (p.Asn856His) rs774757757
NM_000051.4(ATM):c.2566A>G (p.Asn856Asp) rs774757757
NM_000051.4(ATM):c.2566A>T (p.Asn856Tyr)
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs) rs2135507893
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.4(ATM):c.2567dup (p.Asn856fs)
NM_000051.4(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.4(ATM):c.256A>G (p.Thr86Ala) rs1565347018
NM_000051.4(ATM):c.2571A>T (p.Leu857=) rs1191404395
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
NM_000051.4(ATM):c.2572_2573insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe858delinsTrpIleSerHisProTer)
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs) rs1131691148
NM_000051.4(ATM):c.2574T>G (p.Phe858Leu) rs2081309060
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.2575A>G (p.Asn859Asp)
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser) rs1565416655
NM_000051.4(ATM):c.2578G>C (p.Asp860His) rs587779825
NM_000051.4(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.4(ATM):c.2579del (p.Asp860fs)
NM_000051.4(ATM):c.257C>T (p.Thr86Ile) rs755326770
NM_000051.4(ATM):c.2581T>A (p.Tyr861Asn) rs1565416692
NM_000051.4(ATM):c.2581T>C (p.Tyr861His) rs1565416692
NM_000051.4(ATM):c.2582A>G (p.Tyr861Cys) rs2081309790
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.4(ATM):c.2583C>G (p.Tyr861Ter)
NM_000051.4(ATM):c.2584C>G (p.Pro862Ala) rs876660537
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser) rs876660537
NM_000051.4(ATM):c.2585C>A (p.Pro862His) rs1565416725
NM_000051.4(ATM):c.2585del (p.Pro862fs)
NM_000051.4(ATM):c.2586T>C (p.Pro862=) rs2135508452
NM_000051.4(ATM):c.2587G>A (p.Asp863Asn) rs2135508489
NM_000051.4(ATM):c.2587G>C (p.Asp863His) rs2135508489
NM_000051.4(ATM):c.2587_2589dup (p.Asp863dup) rs2081310087
NM_000051.4(ATM):c.2588A>G (p.Asp863Gly)
NM_000051.4(ATM):c.258A>G (p.Thr86=) rs777434093
NM_000051.4(ATM):c.2590A>C (p.Ser864Arg) rs764842086
NM_000051.4(ATM):c.2590AGT[1] (p.Ser865del) rs863224823
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2594G>A (p.Ser865Asn) rs1591588450
NM_000051.4(ATM):c.2594G>T (p.Ser865Ile) rs1591588450
NM_000051.4(ATM):c.2596G>A (p.Val866Ile) rs2135508700
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
NM_000051.4(ATM):c.25C>T (p.Leu9Phe) rs2078806539
NM_000051.4(ATM):c.2600G>A (p.Ser867Asn) rs1591588485
NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs) rs2135508789
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu) rs145513717
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2608A>C (p.Asn870His) rs61734354
NM_000051.4(ATM):c.2608A>T (p.Asn870Tyr)
NM_000051.4(ATM):c.2609A>G (p.Asn870Ser) rs2135508997
NM_000051.4(ATM):c.2610C>G (p.Asn870Lys) rs587780618
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys) rs1591588632
NM_000051.4(ATM):c.2611G>C (p.Glu871Gln) rs1591588632
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly) rs2081311812
NM_000051.4(ATM):c.2613dup (p.Pro872fs) rs1591588646
NM_000051.4(ATM):c.2618G>A (p.Gly873Glu) rs2081312461
NM_000051.4(ATM):c.2618G>C (p.Gly873Ala) rs2081312461
NM_000051.4(ATM):c.2618G>T (p.Gly873Val) rs2081312461
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.4(ATM):c.2622G>A (p.Glu874=) rs2135509315
NM_000051.4(ATM):c.2624G>T (p.Ser875Ile) rs2081312995
NM_000051.4(ATM):c.2625C>G (p.Ser875Arg) rs1591588785
NM_000051.4(ATM):c.2625C>T (p.Ser875=) rs1591588785
NM_000051.4(ATM):c.2626C>G (p.Gln876Glu)
NM_000051.4(ATM):c.2626C>T (p.Gln876Ter) rs2135509419
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.4(ATM):c.2628A>G (p.Gln876=) rs1339119718
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly) rs2081313542
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
NM_000051.4(ATM):c.2633C>T (p.Thr878Ile)
NM_000051.4(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.4(ATM):c.2638+11A>G rs1057521911
NM_000051.4(ATM):c.2638+15A>C
NM_000051.4(ATM):c.2638+15A>G
NM_000051.4(ATM):c.2638+16C>A rs1386019726
NM_000051.4(ATM):c.2638+18A>G rs1057521739
NM_000051.4(ATM):c.2638+18A>T rs1057521739
NM_000051.4(ATM):c.2638+19C>A rs1439350674
NM_000051.4(ATM):c.2638+19C>G
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2638+304C>A
NM_000051.4(ATM):c.2638+5A>G rs2081314537
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2638+9A>C rs761592414
NM_000051.4(ATM):c.2638+9A>T rs761592414
NM_000051.4(ATM):c.2638G>A (p.Gly880Ser)
NM_000051.4(ATM):c.2638G>C (p.Gly880Arg) rs2135509665
NM_000051.4(ATM):c.2638_2638+7dup rs2081313995
NM_000051.4(ATM):c.2639-13T>C
NM_000051.4(ATM):c.2639-15G>A rs757723219
NM_000051.4(ATM):c.2639-15G>T
NM_000051.4(ATM):c.2639-17G>A
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2639-1G>A
NM_000051.4(ATM):c.2639-20T>A
NM_000051.4(ATM):c.2639-20T>C rs2135522472
NM_000051.4(ATM):c.2639-20T>G
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.2639-2A>G rs1591593566
NM_000051.4(ATM):c.2639-382_2639-377del rs1397425268
NM_000051.4(ATM):c.2639-384A>T rs1131691154
NM_000051.4(ATM):c.2639-386_2639-381del
NM_000051.4(ATM):c.2639-4_2639-3del rs1555083075
NM_000051.4(ATM):c.2639-6T>G
NM_000051.4(ATM):c.2639-7T>G rs912886321
NM_000051.4(ATM):c.2639-8A>G rs779419160
NM_000051.4(ATM):c.2639-8del rs2135522747
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala) rs2135522879
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
NM_000051.4(ATM):c.2643dup (p.Ile882fs)
NM_000051.4(ATM):c.2646T>A (p.Ile882=) rs1591593585
NM_000051.4(ATM):c.2646T>C (p.Ile882=) rs1591593585
NM_000051.4(ATM):c.2648A>G (p.Asn883Ser) rs2081380347
NM_000051.4(ATM):c.2649T>G (p.Asn883Lys) rs1555083093
NM_000051.4(ATM):c.264C>T (p.Ala88=) rs1555055190
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala) rs1591593623
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser) rs1591593623
NM_000051.4(ATM):c.2653T>G (p.Leu885Val)
NM_000051.4(ATM):c.2654T>C (p.Leu885Ser) rs1555083096
NM_000051.4(ATM):c.2654T>G (p.Leu885Ter) rs1555083096
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer) rs1060501679
NM_000051.4(ATM):c.2656G>T (p.Ala886Ser) rs575762025
NM_000051.4(ATM):c.2658T>C (p.Ala886=) rs1591593665
NM_000051.4(ATM):c.265T>C (p.Ser89Pro) rs2135035804
NM_000051.4(ATM):c.2660A>C (p.Glu887Ala)
NM_000051.4(ATM):c.2662G>A (p.Glu888Lys)
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln) rs879254083
NM_000051.4(ATM):c.2664A>G (p.Glu888=) rs2135523410
NM_000051.4(ATM):c.2665dup (p.Tyr889fs) rs2135523450
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter) rs2081381578
NM_000051.4(ATM):c.2667T>C (p.Tyr889=) rs2081381578
NM_000051.4(ATM):c.2668C>G (p.Leu890Val) rs937133424
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro) rs1411479824
NM_000051.4(ATM):c.2669T>G (p.Leu890Arg) rs1411479824
NM_000051.4(ATM):c.266C>T (p.Ser89Phe) rs375605135
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2672C>T (p.Ser891Leu) rs876660780
NM_000051.4(ATM):c.2675A>C (p.Lys892Thr)
NM_000051.4(ATM):c.2676G>A (p.Lys892=) rs1555083128
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn) rs1555083128
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg) rs876659776
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.267C>T (p.Ser89=) rs1555055198
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr) rs1400094698
NM_000051.4(ATM):c.2681A>G (p.Asp894Gly) rs113482790
NM_000051.4(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.4(ATM):c.2683C>A (p.Leu895Ile) rs1299030225
NM_000051.4(ATM):c.2683C>T (p.Leu895=)
NM_000051.4(ATM):c.2685_2699dup (p.Asp899_Met900insIleLeuPheLeuAsp)
NM_000051.4(ATM):c.2686C>A (p.Leu896Ile)
NM_000051.4(ATM):c.2686C>G (p.Leu896Val) rs747696133
NM_000051.4(ATM):c.2686C>T (p.Leu896Phe) rs747696133
NM_000051.4(ATM):c.2686_2689del (p.Leu896fs)
NM_000051.4(ATM):c.268A>G (p.Arg90Gly) rs868748140
NM_000051.4(ATM):c.2690T>A (p.Phe897Tyr)
NM_000051.4(ATM):c.2690T>C (p.Phe897Ser) rs876658373
NM_000051.4(ATM):c.2691C>G (p.Phe897Leu) rs878853496
NM_000051.4(ATM):c.2692T>G (p.Leu898Val) rs2135524133
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter) rs770610463
NM_000051.4(ATM):c.2694A>T (p.Leu898Phe) rs774395596
NM_000051.4(ATM):c.2695G>C (p.Asp899His)
NM_000051.4(ATM):c.2696A>G (p.Asp899Gly) rs1555083190
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu) rs786202978
NM_000051.4(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.4(ATM):c.2700G>A (p.Met900Ile) rs1591593939
NM_000051.4(ATM):c.2700dup (p.Leu901fs) rs1555083198
NM_000051.4(ATM):c.2701C>T (p.Leu901Phe) rs863224559
NM_000051.4(ATM):c.2703C>G (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.2703C>T (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu) rs2135524412
NM_000051.4(ATM):c.2706G>A (p.Lys902=) rs2135524458
NM_000051.4(ATM):c.2708T>A (p.Phe903Tyr)
NM_000051.4(ATM):c.2708T>G (p.Phe903Cys) rs1555083208
NM_000051.4(ATM):c.2709C>T (p.Phe903=) rs2135524508
NM_000051.4(ATM):c.270G>A (p.Arg90=) rs1313014736
NM_000051.4(ATM):c.2715T>G (p.Cys905Trp) rs2081385130
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2717T>C (p.Leu906Ser) rs1064794688
NM_000051.4(ATM):c.2717del (p.Leu906fs)
NM_000051.4(ATM):c.2719T>C (p.Cys907Arg) rs2135524707
NM_000051.4(ATM):c.271C>G (p.Gln91Glu)
NM_000051.4(ATM):c.271C>T (p.Gln91Ter) rs2078888769
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr) rs775371838
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2720del (p.Cys907fs) rs2135524751
NM_000051.4(ATM):c.2721T>C (p.Cys907=)
NM_000051.4(ATM):c.2722G>A (p.Val908Ile) rs1190648236
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2724A>G (p.Val908=)
NM_000051.4(ATM):c.2724A>T (p.Val908=) rs1555083247
NM_000051.4(ATM):c.2725A>T (p.Thr909Ser) rs786203175
NM_000051.4(ATM):c.2726C>T (p.Thr909Ile) rs1555083259
NM_000051.4(ATM):c.2727T>C (p.Thr909=)
NM_000051.4(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.4(ATM):c.272A>C (p.Gln91Pro)
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser) rs1591594169
NM_000051.4(ATM):c.2734C>A (p.Gln912Lys) rs764409952
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu) rs764409952
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu) rs730881353
NM_000051.4(ATM):c.2736G>C (p.Gln912His)
NM_000051.4(ATM):c.2737A>G (p.Thr913Ala) rs2135525084
NM_000051.4(ATM):c.2737A>T (p.Thr913Ser) rs2135525084
NM_000051.4(ATM):c.2738C>A (p.Thr913Asn) rs1266220962
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile) rs1266220962
NM_000051.4(ATM):c.2739C>T (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.2740A>G (p.Asn914Asp) rs1591594250
NM_000051.4(ATM):c.2742T>C (p.Asn914=) rs1057520522
NM_000051.4(ATM):c.2743A>G (p.Thr915Ala) rs786203106
NM_000051.4(ATM):c.2744C>A (p.Thr915Asn) rs876660912
NM_000051.4(ATM):c.2744C>G (p.Thr915Ser) rs876660912
NM_000051.4(ATM):c.2745T>C (p.Thr915=) rs2135525290
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
NM_000051.4(ATM):c.2746G>A (p.Val916Met) rs2081388106
NM_000051.4(ATM):c.2747T>C (p.Val916Ala)
NM_000051.4(ATM):c.2748G>A (p.Val916=) rs1050470790
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)
NM_000051.4(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.4(ATM):c.274A>C (p.Lys92Gln)
NM_000051.4(ATM):c.274A>G (p.Lys92Glu) rs756969590
NM_000051.4(ATM):c.2750C>G (p.Ser917Cys) rs2081388548
NM_000051.4(ATM):c.2750C>T (p.Ser917Phe) rs2081388548
NM_000051.4(ATM):c.2750_2752del (p.Ser917del)
NM_000051.4(ATM):c.2751C>A (p.Ser917=)
NM_000051.4(ATM):c.2751C>G (p.Ser917=) rs876659611
NM_000051.4(ATM):c.2752T>C (p.Phe918Leu) rs1060501549
NM_000051.4(ATM):c.2754T>C (p.Phe918=) rs758955717
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly) rs1591594384
NM_000051.4(ATM):c.2757G>A (p.Arg919=)
NM_000051.4(ATM):c.2758G>A (p.Ala920Thr) rs1555083326
NM_000051.4(ATM):c.2758del (p.Ala920fs) rs2081389278
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.4(ATM):c.2763T>A (p.Ala921=) rs1555083334
NM_000051.4(ATM):c.2763T>C (p.Ala921=) rs1555083334
NM_000051.4(ATM):c.2764G>C (p.Asp922His) rs786201670
NM_000051.4(ATM):c.2765A>G (p.Asp922Gly) rs1555083339
NM_000051.4(ATM):c.2765A>T (p.Asp922Val) rs1555083339
NM_000051.4(ATM):c.2766T>C (p.Asp922=) rs2135525790
NM_000051.4(ATM):c.2767A>C (p.Ile923Leu)
NM_000051.4(ATM):c.2767A>G (p.Ile923Val)
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn) rs2081390566
NM_000051.4(ATM):c.2768T>C (p.Ile923Thr) rs2081390566
NM_000051.4(ATM):c.2769T>G (p.Ile923Met) rs2081390749
NM_000051.4(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.4(ATM):c.276_284dup (p.Lys93_Gln95dup) rs2078889184
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu) rs587782298
NM_000051.4(ATM):c.2772G>A (p.Arg924=)
NM_000051.4(ATM):c.2772G>C (p.Arg924=) rs777541280
NM_000051.4(ATM):c.2775G>T (p.Arg925Ser) rs1591594506
NM_000051.4(ATM):c.2775del (p.Lys926fs) rs1060501702
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
NM_000051.4(ATM):c.2779T>C (p.Leu927=) rs2135526043
NM_000051.4(ATM):c.277A>G (p.Lys93Glu) rs1555055234
NM_000051.4(ATM):c.2781G>A (p.Leu927=) rs770565353
NM_000051.4(ATM):c.2783T>C (p.Leu928Ser) rs2081392000
NM_000051.4(ATM):c.2783del (p.Leu927_Leu928insTer)
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
NM_000051.4(ATM):c.2784A>T (p.Leu928Phe)
NM_000051.4(ATM):c.2785A>G (p.Met929Val) rs774067793
NM_000051.4(ATM):c.2786T>A (p.Met929Lys) rs745737218
NM_000051.4(ATM):c.2786T>G (p.Met929Arg) rs745737218
NM_000051.4(ATM):c.2788T>A (p.Leu930Ile) rs2135526232
NM_000051.4(ATM):c.2788T>C (p.Leu930=) rs2135526232
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.4(ATM):c.2795A>G (p.Asp932Gly) rs1060501623
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr) rs1060501698
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr) rs56087610
NM_000051.4(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.4(ATM):c.279G>C (p.Lys93Asn) rs368196317
NM_000051.4(ATM):c.2801G>C (p.Ser934Thr) rs1555083387
NM_000051.4(ATM):c.2802C>G (p.Ser934Arg) rs876659788
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro) rs35813135
NM_000051.4(ATM):c.2803A>G (p.Thr935Ala) rs35813135
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys) rs3218708
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806C>G (p.Leu936Val) rs1422401186
NM_000051.4(ATM):c.2806C>T (p.Leu936=) rs1422401186
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2808A>G (p.Leu936=) rs547791214
NM_000051.4(ATM):c.2809G>C (p.Glu937Gln) rs1565420027
NM_000051.4(ATM):c.2811A>C (p.Glu937Asp) rs1060501705
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala) rs1415567368
NM_000051.4(ATM):c.2812C>T (p.Pro938Ser) rs1415567368
NM_000051.4(ATM):c.2813C>T (p.Pro938Leu) rs1183804155
NM_000051.4(ATM):c.2817C>G (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2817C>T (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2819A>G (p.Lys940Arg) rs762078586
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.4(ATM):c.281T>A (p.Met94Lys) rs2078889761
NM_000051.4(ATM):c.2820A>C (p.Lys940Asn) rs1477142492
NM_000051.4(ATM):c.2820A>T (p.Lys940Asn)
NM_000051.4(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2823C>T (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2827C>T (p.His943Tyr) rs2135527318
NM_000051.4(ATM):c.2828A>C (p.His943Pro) rs2081396482
NM_000051.4(ATM):c.2828A>G (p.His943Arg)
NM_000051.4(ATM):c.282G>A (p.Met94Ile) rs2078889859
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
NM_000051.4(ATM):c.2832G>C (p.Leu944=) rs2135527476
NM_000051.4(ATM):c.2833C>T (p.His945Tyr) rs2081396911
NM_000051.4(ATM):c.2834A>G (p.His945Arg) rs752053874
NM_000051.4(ATM):c.2836A>C (p.Met946Leu) rs587781992
NM_000051.4(ATM):c.2838+10G>A rs1555083482
NM_000051.4(ATM):c.2838+12T>A
NM_000051.4(ATM):c.2838+12T>C
NM_000051.4(ATM):c.2838+16T>C
NM_000051.4(ATM):c.2838+17G>C
NM_000051.4(ATM):c.2838+17G>T
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2838+1del rs2081397580
NM_000051.4(ATM):c.2838+3del
NM_000051.4(ATM):c.2838+5G>A rs1555083472
NM_000051.4(ATM):c.2838+5G>T rs1555083472
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838+6T>G
NM_000051.4(ATM):c.2838+8A>G rs1295524564
NM_000051.4(ATM):c.2838+9C>A rs370160823
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2838G>T (p.Met946Ile) rs1317505466
NM_000051.4(ATM):c.2839-11T>A rs1429589119
NM_000051.4(ATM):c.2839-11T>C
NM_000051.4(ATM):c.2839-12C>G
NM_000051.4(ATM):c.2839-13C>T
NM_000051.4(ATM):c.2839-14T>C
NM_000051.4(ATM):c.2839-15C>T rs2081545815
NM_000051.4(ATM):c.2839-18dup rs730881287
NM_000051.4(ATM):c.2839-1G>A rs995271490
NM_000051.4(ATM):c.2839-1_2839del rs2135547229
NM_000051.4(ATM):c.2839-2A>C rs1060501703
NM_000051.4(ATM):c.2839-2A>G rs1060501703
NM_000051.4(ATM):c.2839-2A>T rs1060501703
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-4_2839-3insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGC
NM_000051.4(ATM):c.2839-577G>A rs2135541900
NM_000051.4(ATM):c.2839-577G>C rs2135541900
NM_000051.4(ATM):c.2839-578A>G rs2135541882
NM_000051.4(ATM):c.2839-581G>A rs2135541843
NM_000051.4(ATM):c.2839-5C>A rs876660205
NM_000051.4(ATM):c.2839-5C>G
NM_000051.4(ATM):c.2839-6T>C rs1338486619
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.2839-8C>A rs1555084596
NM_000051.4(ATM):c.2839-8C>T rs1555084596
NM_000051.4(ATM):c.2839-9C>T
NM_000051.4(ATM):c.283C>G (p.Gln95Glu) rs587781545
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.4(ATM):c.2840dup (p.Tyr947Ter) rs1308599194
NM_000051.4(ATM):c.2841T>C (p.Tyr947=) rs1167845678
NM_000051.4(ATM):c.2842C>G (p.Leu948Val) rs1591602173
NM_000051.4(ATM):c.2842C>T (p.Leu948=) rs1591602173
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln) rs2135547361
NM_000051.4(ATM):c.2843T>C (p.Leu948Pro) rs2135547361
NM_000051.4(ATM):c.2844A>C (p.Leu948=)
NM_000051.4(ATM):c.2844A>G (p.Leu948=) rs1555084628
NM_000051.4(ATM):c.2845A>T (p.Met949Leu)
NM_000051.4(ATM):c.2847G>A (p.Met949Ile) rs1565424213
NM_000051.4(ATM):c.2847G>C (p.Met949Ile) rs1565424213
NM_000051.4(ATM):c.2848C>G (p.Leu950Val) rs763064034
NM_000051.4(ATM):c.2849T>A (p.Leu950His) rs786203054
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro) rs786203054
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.284A>G (p.Gln95Arg)
NM_000051.4(ATM):c.284A>T (p.Gln95Leu)
NM_000051.4(ATM):c.2852T>C (p.Leu951Ser)
NM_000051.4(ATM):c.2856G>A (p.Lys952=) rs2135547604
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys) rs1591602248
NM_000051.4(ATM):c.2858A>C (p.Glu953Ala) rs2135547667
NM_000051.4(ATM):c.285G>C (p.Gln95His) rs1316615402
NM_000051.4(ATM):c.2860C>T (p.Leu954Phe) rs2081549194
NM_000051.4(ATM):c.2861T>A (p.Leu954His) rs1555084648
NM_000051.4(ATM):c.2861T>C (p.Leu954Pro)
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg) rs1555084648
NM_000051.4(ATM):c.2862T>G (p.Leu954=) rs1426256662
NM_000051.4(ATM):c.2864C>A (p.Pro955His) rs1591602301
NM_000051.4(ATM):c.2865T>C (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2867del (p.Gly956fs) rs2135547839
NM_000051.4(ATM):c.2870A>T (p.Glu957Val)
NM_000051.4(ATM):c.2871A>G (p.Glu957=) rs863224291
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2874G>A (p.Glu958=) rs1555084671
NM_000051.4(ATM):c.2876A>C (p.Tyr959Ser) rs1591602381
NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2877C>T (p.Tyr959=) rs1057517253
NM_000051.4(ATM):c.2878C>T (p.Pro960Ser)
NM_000051.4(ATM):c.2879C>G (p.Pro960Arg) rs587779828
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu) rs587779828
NM_000051.4(ATM):c.2880C>T (p.Pro960=) rs1591602430
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
NM_000051.4(ATM):c.2884C>T (p.Pro962Ser) rs1377928885
NM_000051.4(ATM):c.2885C>G (p.Pro962Arg) rs1591602470
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu) rs1591602470
NM_000051.4(ATM):c.288A>G (p.Glu96=) rs1226812648
NM_000051.4(ATM):c.2890del (p.Glu964fs)
NM_000051.4(ATM):c.2893G>C (p.Asp965His) rs1064793035
NM_000051.4(ATM):c.2895T>C (p.Asp965=) rs1424320755
NM_000051.4(ATM):c.2896G>A (p.Val966Ile) rs1060501598
NM_000051.4(ATM):c.2896G>T (p.Val966Phe)
NM_000051.4(ATM):c.2897T>C (p.Val966Ala)
NM_000051.4(ATM):c.2899del (p.Glu968fs)
NM_000051.4(ATM):c.289A>G (p.Ile97Val) rs1565347206
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2900T>G (p.Leu967Arg)
NM_000051.4(ATM):c.2901T>G (p.Leu967=) rs778731866
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter) rs1555084723
NM_000051.4(ATM):c.2907_2909del (p.Leu970del) rs2135548669
NM_000051.4(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro) rs587782521
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.4(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser) rs2135548838
NM_000051.4(ATM):c.2916A>T (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.2917C>G (p.Leu973Val)
NM_000051.4(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.4(ATM):c.2917del (p.Leu973fs)
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.4(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.4(ATM):c.2920T>C (p.Ser974Pro)
NM_000051.4(ATM):c.2921+10T>G rs1060504278
NM_000051.4(ATM):c.2921+11A>G rs1565424678
NM_000051.4(ATM):c.2921+15C>T rs1057521619
NM_000051.4(ATM):c.2921+16C>T rs558376224
NM_000051.4(ATM):c.2921+17T>G
NM_000051.4(ATM):c.2921+18T>C rs1565424709
NM_000051.4(ATM):c.2921+19A>G
NM_000051.4(ATM):c.2921+19_2921+20del rs2135549382
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+20T>A
NM_000051.4(ATM):c.2921+20T>C rs2081555059
NM_000051.4(ATM):c.2921+24_2921+28del rs780315379
NM_000051.4(ATM):c.2921+2T>G rs2135549026
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2921+3A>C rs2135549049
NM_000051.4(ATM):c.2921+4A>C rs1565424660
NM_000051.4(ATM):c.2921+9T>G
NM_000051.4(ATM):c.2921C>A (p.Ser974Tyr) rs538105098
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.2922-10T>C rs2081563514
NM_000051.4(ATM):c.2922-10T>G rs2081563514
NM_000051.4(ATM):c.2922-13T>C rs1565424946
NM_000051.4(ATM):c.2922-14T>C rs761100734
NM_000051.4(ATM):c.2922-18T>C
NM_000051.4(ATM):c.2922-1G>A rs1555084931
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2922-3C>T rs750087017
NM_000051.4(ATM):c.2922-4A>G rs1555084924
NM_000051.4(ATM):c.2922-50_2938del rs1555084836
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2922-5C>T rs1452462211
NM_000051.4(ATM):c.2922-7A>G
NM_000051.4(ATM):c.2922-7A>T rs1292971489
NM_000051.4(ATM):c.2922-7dup rs932219783
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922-9T>C rs2135551080
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.2925T>A (p.Asn975Lys) rs765848319
NM_000051.4(ATM):c.2925T>C (p.Asn975=) rs765848319
NM_000051.4(ATM):c.2925T>G (p.Asn975Lys)
NM_000051.4(ATM):c.2926G>A (p.Val976Met) rs1178628574
NM_000051.4(ATM):c.2926G>T (p.Val976Leu) rs1178628574
NM_000051.4(ATM):c.2928G>A (p.Val976=) rs1591603577
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.292A>T (p.Ser98Cys)
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe) rs876660628
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.2931T>G (p.Cys977Trp)
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)
NM_000051.4(ATM):c.2935T>G (p.Leu979Val)
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser) rs1565425094
NM_000051.4(ATM):c.2937G>A (p.Leu979=) rs1166904824
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter) rs748119565
NM_000051.4(ATM):c.2941C>G (p.Arg981Gly) rs587780619
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2945G>C (p.Arg982Pro) rs749471737
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu) rs749471737
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
NM_000051.4(ATM):c.2947G>A (p.Asp983Asn) rs1060501560
NM_000051.4(ATM):c.2947G>T (p.Asp983Tyr) rs1060501560
NM_000051.4(ATM):c.2949C>T (p.Asp983=) rs1555085022
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu) rs2135552016
NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)
NM_000051.4(ATM):c.2951A>G (p.Gln984Arg) rs1239016428
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.2953_2954dup (p.Asp985fs) rs2135552095
NM_000051.4(ATM):c.2954A>C (p.Asp985Ala)
NM_000051.4(ATM):c.2954A>G (p.Asp985Gly) rs864622159
NM_000051.4(ATM):c.2954A>T (p.Asp985Val) rs864622159
NM_000051.4(ATM):c.2955T>C (p.Asp985=) rs1555085034
NM_000051.4(ATM):c.2956del (p.Val986fs) rs2135552199
NM_000051.4(ATM):c.2957T>C (p.Val986Ala) rs373225328
NM_000051.4(ATM):c.2959T>G (p.Cys987Gly) rs1305059653
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2961T>G (p.Cys987Trp)
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu) rs772327699
NM_000051.4(ATM):c.2962A>T (p.Lys988Ter) rs772327699
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.4(ATM):c.2966C>G (p.Thr989Ser)
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2967T>G (p.Thr989=) rs144145128
NM_000051.4(ATM):c.296G>A (p.Ser99Asn) rs2078891183
NM_000051.4(ATM):c.296del (p.Ser99fs)
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser) rs1227701474
NM_000051.4(ATM):c.2972del (p.Ile990_Leu991insTer) rs2135552505
NM_000051.4(ATM):c.2974A>G (p.Asn992Asp)
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser) rs1060501589
NM_000051.4(ATM):c.2976C>A (p.Asn992Lys) rs1283172338
NM_000051.4(ATM):c.2976C>G (p.Asn992Lys) rs1283172338
NM_000051.4(ATM):c.2977C>G (p.His993Asp) rs2081569641
NM_000051.4(ATM):c.2977C>T (p.His993Tyr)
NM_000051.4(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.4(ATM):c.2978A>T (p.His993Leu) rs878853498
NM_000051.4(ATM):c.297T>G (p.Ser99Arg)
NM_000051.4(ATM):c.2982C>T (p.Val994=) rs200541844
NM_000051.4(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.4(ATM):c.2985T>A (p.Leu995=) rs1555085087
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.2986C>T (p.His996Tyr) rs2081570384
NM_000051.4(ATM):c.2987A>C (p.His996Pro) rs876660034
NM_000051.4(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.4(ATM):c.2988T>C (p.His996=) rs559676197
NM_000051.4(ATM):c.2988T>G (p.His996Gln) rs559676197
NM_000051.4(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.4(ATM):c.2989G>C (p.Val997Leu) rs1487902875
NM_000051.4(ATM):c.2990del (p.Val997fs) rs2135552978
NM_000051.4(ATM):c.2991A>G (p.Val997=) rs1203368496
NM_000051.4(ATM):c.2991A>T (p.Val997=)
NM_000051.4(ATM):c.2993T>G (p.Val998Gly) rs2135553024
NM_000051.4(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.4(ATM):c.2994dup (p.Lys999fs) rs2135553051
NM_000051.4(ATM):c.2997A>C (p.Lys999Asn)
NM_000051.4(ATM):c.2998A>T (p.Asn1000Tyr) rs2081571365
NM_000051.4(ATM):c.2999A>G (p.Asn1000Ser) rs1555085128
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile) rs1555085128
NM_000051.4(ATM):c.2999del (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.299T>A (p.Leu100Ter) rs761936549
NM_000051.4(ATM):c.29T>C (p.Ile10Thr) rs2135004898
NM_000051.4(ATM):c.3000C>G (p.Asn1000Lys) rs2135553183
NM_000051.4(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.4(ATM):c.3004G>C (p.Gly1002Arg) rs1565425547
NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)
NM_000051.4(ATM):c.3006T>C (p.Gly1002=)
NM_000051.4(ATM):c.3007C>G (p.Gln1003Glu) rs1555085143
NM_000051.4(ATM):c.3007C>T (p.Gln1003Ter) rs1555085143
NM_000051.4(ATM):c.3009A>G (p.Gln1003=) rs1555085154
NM_000051.4(ATM):c.300G>A (p.Leu100=) rs878853499
NM_000051.4(ATM):c.300G>C (p.Leu100Phe) rs878853499
NM_000051.4(ATM):c.3011G>A (p.Ser1004Asn) rs1060501696
NM_000051.4(ATM):c.3011G>C (p.Ser1004Thr) rs1060501696
NM_000051.4(ATM):c.3013A>C (p.Asn1005His) rs745954659
NM_000051.4(ATM):c.3015T>C (p.Asn1005=)
NM_000051.4(ATM):c.3016A>T (p.Met1006Leu)
NM_000051.4(ATM):c.3019_3025del (p.Asp1007fs)
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu) rs1591604426
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro) rs2135553747
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys) rs2135553767
NM_000051.4(ATM):c.3023_3024del (p.Asp1007_Ser1008insTer) rs2135553733
NM_000051.4(ATM):c.3024T>C (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3024T>G (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs) rs2135553856
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs) rs1555085172
NM_000051.4(ATM):c.3024_3031del (p.Glu1009fs)
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.4(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.4(ATM):c.302T>A (p.Val101Asp)
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala) rs959314809
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys) rs1387785337
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg) rs1387785337
NM_000051.4(ATM):c.3032del (p.Thr1011fs) rs2135554073
NM_000051.4(ATM):c.3034A>C (p.Arg1012=) rs752615128
NM_000051.4(ATM):c.3034dup (p.Arg1012fs) rs2135554107
NM_000051.4(ATM):c.3035G>A (p.Arg1012Lys) rs1565425752
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr) rs2135554187
NM_000051.4(ATM):c.3039T>C (p.Asp1013=) rs1591604597
NM_000051.4(ATM):c.303C>G (p.Val101=) rs1555055291
NM_000051.4(ATM):c.303C>T (p.Val101=) rs1555055291
NM_000051.4(ATM):c.3041C>A (p.Ala1014Asp)
NM_000051.4(ATM):c.3041C>T (p.Ala1014Val)
NM_000051.4(ATM):c.3042T>C (p.Ala1014=) rs1555085205
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3044A>C (p.Gln1015Pro) rs587778070
NM_000051.4(ATM):c.3044A>G (p.Gln1015Arg) rs587778070
NM_000051.4(ATM):c.3044_3045del (p.Gln1015fs) rs1555085217
NM_000051.4(ATM):c.3045A>C (p.Gln1015His) rs1064796404
NM_000051.4(ATM):c.3045A>G (p.Gln1015=) rs1064796404
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val) rs1565425832
NM_000051.4(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3050A>G (p.Gln1017Arg)
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
NM_000051.4(ATM):c.3054del (p.Thr1020fs) rs2135554539
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys) rs186626274
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.305A>G (p.Lys102Arg)
NM_000051.4(ATM):c.305A>T (p.Lys102Ile) rs1555055293
NM_000051.4(ATM):c.3060A>G (p.Thr1020=) rs1591604737
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
NM_000051.4(ATM):c.3063A>G (p.Val1021=) rs1591604752
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val) rs786202470
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg) rs730882129
NM_000051.4(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.4(ATM):c.3069A>G (p.Gly1023=) rs778984289
NM_000051.4(ATM):c.306A>G (p.Lys102=) rs1060501626
NM_000051.4(ATM):c.3070G>A (p.Ala1024Thr) rs1397754737
NM_000051.4(ATM):c.3070G>C (p.Ala1024Pro) rs1397754737
NM_000051.4(ATM):c.3070G>T (p.Ala1024Ser)
NM_000051.4(ATM):c.3072A>G (p.Ala1024=) rs772274328
NM_000051.4(ATM):c.3073T>C (p.Phe1025Leu) rs2135554935
NM_000051.4(ATM):c.3074T>G (p.Phe1025Cys) rs1555085266
NM_000051.4(ATM):c.3075T>G (p.Phe1025Leu) rs1591604883
NM_000051.4(ATM):c.3075_3077+23del
NM_000051.4(ATM):c.3076T>C (p.Trp1026Arg) rs2135555027
NM_000051.4(ATM):c.3076del (p.Trp1026fs) rs2135554957
NM_000051.4(ATM):c.3077+11T>G
NM_000051.4(ATM):c.3077+12C>A
NM_000051.4(ATM):c.3077+12C>G rs2081578131
NM_000051.4(ATM):c.3077+13dup rs1555085272
NM_000051.4(ATM):c.3077+14A>G rs977758069
NM_000051.4(ATM):c.3077+14A>T
NM_000051.4(ATM):c.3077+15T>C rs1555085277
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3077+21_3077+23del rs1243820894
NM_000051.4(ATM):c.3077+3A>G
NM_000051.4(ATM):c.3077+4G>C rs201222237
NM_000051.4(ATM):c.3077+4G>T rs201222237
NM_000051.4(ATM):c.3077+6T>A rs1565426002
NM_000051.4(ATM):c.3077+6T>C
NM_000051.4(ATM):c.3077+7A>C rs2081577708
NM_000051.4(ATM):c.3077+7A>G rs2081577708
NM_000051.4(ATM):c.3077+8C>A rs752601608
NM_000051.4(ATM):c.3077+8C>T rs752601608
NM_000051.4(ATM):c.3077+9A>G
NM_000051.4(ATM):c.3077+9A>T
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.4(ATM):c.3077G>C (p.Trp1026Ser) rs587782103
NM_000051.4(ATM):c.3078-10T>G rs2135564722
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3078-12_3078-10del
NM_000051.4(ATM):c.3078-14T>C
NM_000051.4(ATM):c.3078-16A>C
NM_000051.4(ATM):c.3078-19A>C
NM_000051.4(ATM):c.3078-20G>A
NM_000051.4(ATM):c.3078-2A>C rs2135564916
NM_000051.4(ATM):c.3078-2A>G
NM_000051.4(ATM):c.3078-4T>A
NM_000051.4(ATM):c.3078-4T>G rs1591608166
NM_000051.4(ATM):c.3078-5T>C rs1565427457
NM_000051.4(ATM):c.3078-5T>G rs1565427457
NM_000051.4(ATM):c.3078-7A>G
NM_000051.4(ATM):c.3078-7A>T
NM_000051.4(ATM):c.3078-8G>C
NM_000051.4(ATM):c.3078-9T>G rs2081637337
NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter) rs876660869
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.307T>A (p.Tyr103Asn)
NM_000051.4(ATM):c.3080A>C (p.His1027Pro) rs786204217
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3081T>A (p.His1027Gln) rs864622587
NM_000051.4(ATM):c.3081T>C (p.His1027=) rs864622587
NM_000051.4(ATM):c.3082C>G (p.Leu1028Val) rs1263930458
NM_000051.4(ATM):c.3083T>A (p.Leu1028Gln) rs1555085776
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro) rs1555085776
NM_000051.4(ATM):c.3083T>G (p.Leu1028Arg) rs1555085776
NM_000051.4(ATM):c.3084A>C (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3084A>G (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3086_3090del (p.Thr1029fs) rs2135565205
NM_000051.4(ATM):c.3087A>C (p.Thr1029=) rs1555085787
NM_000051.4(ATM):c.3087A>G (p.Thr1029=) rs1555085787
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu) rs863224561
NM_000051.4(ATM):c.3089A>G (p.Lys1030Arg) rs2081639453
NM_000051.4(ATM):c.308A>C (p.Tyr103Ser)
NM_000051.4(ATM):c.3090G>A (p.Lys1030=) rs1591608292
NM_000051.4(ATM):c.3091del (p.Glu1031fs) rs2135565314
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3093G>A (p.Glu1031=) rs1555085799
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys) rs2081639925
NM_000051.4(ATM):c.3096G>A (p.Arg1032=) rs1555085805
NM_000051.4(ATM):c.30C>A (p.Ile10=) rs1591445856
NM_000051.4(ATM):c.30C>T (p.Ile10=) rs1591445856
NM_000051.4(ATM):c.3100T>A (p.Tyr1034Asn) rs975639638
NM_000051.4(ATM):c.3100T>C (p.Tyr1034His) rs975639638
NM_000051.4(ATM):c.3100_3114dup (p.Tyr1034_Val1038dup) rs2135565534
NM_000051.4(ATM):c.3101A>G (p.Tyr1034Cys)
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3105A>G (p.Ile1035Met) rs1565427678
NM_000051.4(ATM):c.3105_3106del (p.Phe1036fs) rs2081640268
NM_000051.4(ATM):c.3105_3106dup (p.Phe1036fs) rs2081640268
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)
NM_000051.4(ATM):c.3109T>C (p.Ser1037Pro) rs2135565790
NM_000051.4(ATM):c.310T>C (p.Phe104Leu) rs1555055306
NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)
NM_000051.4(ATM):c.3111T>C (p.Ser1037=) rs1591608393
NM_000051.4(ATM):c.3112G>A (p.Val1038Ile) rs876659877
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs) rs2135565843
NM_000051.4(ATM):c.3113T>G (p.Val1038Gly)
NM_000051.4(ATM):c.3115A>C (p.Arg1039=) rs1060504309
NM_000051.4(ATM):c.3116G>T (p.Arg1039Ile)
NM_000051.4(ATM):c.3117A>G (p.Arg1039=) rs55784207
NM_000051.4(ATM):c.311del (p.Phe104fs) rs1555055309
NM_000051.4(ATM):c.3120G>C (p.Met1040Ile) rs781519408
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr) rs748752687
NM_000051.4(ATM):c.3121G>T (p.Ala1041Ser) rs748752687
NM_000051.4(ATM):c.3124C>G (p.Leu1042Val) rs1177614796
NM_000051.4(ATM):c.3124del (p.Ala1041_Leu1042insTer)
NM_000051.4(ATM):c.3127G>A (p.Val1043Ile)
NM_000051.4(ATM):c.3129A>G (p.Val1043=)
NM_000051.4(ATM):c.312C>T (p.Phe104=) rs1060504310
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser) rs1565427876
NM_000051.4(ATM):c.3131del (p.Asn1044fs)
NM_000051.4(ATM):c.3135C>T (p.Cys1045=) rs773577455
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe) rs1591608576
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3137T>G (p.Leu1046Arg)
NM_000051.4(ATM):c.3138T>C (p.Leu1046=) rs3092858
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
NM_000051.4(ATM):c.3141A>G (p.Lys1047=)
NM_000051.4(ATM):c.3142del (p.Thr1048fs) rs2135566568
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.4(ATM):c.3145T>C (p.Leu1049=) rs1591608635
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
NM_000051.4(ATM):c.3149T>C (p.Leu1050Pro) rs1555085890
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.4(ATM):c.314T>A (p.Ile105Asn)
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.4(ATM):c.3152A>G (p.Glu1051Gly) rs876659217
NM_000051.4(ATM):c.3153+10dup rs1565428079
NM_000051.4(ATM):c.3153+11G>C
NM_000051.4(ATM):c.3153+12C>T rs2135567275
NM_000051.4(ATM):c.3153+13A>G
NM_000051.4(ATM):c.3153+15T>G
NM_000051.4(ATM):c.3153+16T>G
NM_000051.4(ATM):c.3153+18T>G rs1555085921
NM_000051.4(ATM):c.3153+19T>G rs1565428143
NM_000051.4(ATM):c.3153+1G>A rs2081646501
NM_000051.4(ATM):c.3153+1G>T rs2081646501
NM_000051.4(ATM):c.3153+20T>A rs200786429
NM_000051.4(ATM):c.3153+20del rs760492979
NM_000051.4(ATM):c.3153+20dup rs760492979
NM_000051.4(ATM):c.3153+2T>C rs2135566959
NM_000051.4(ATM):c.3153+3G>A rs1565428067
NM_000051.4(ATM):c.3153+3G>T rs1565428067
NM_000051.4(ATM):c.3153+4A>G rs1060501620
NM_000051.4(ATM):c.3153+4A>T rs1060501620
NM_000051.4(ATM):c.3153+5G>A rs1591608756
NM_000051.4(ATM):c.3153+5G>T
NM_000051.4(ATM):c.3153+6T>C
NM_000051.4(ATM):c.3153+7T>C rs2135567095
NM_000051.4(ATM):c.3153+7_3153+8insA rs878853500
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-10T>C rs2135569357
NM_000051.4(ATM):c.3154-12C>A
NM_000051.4(ATM):c.3154-12C>T
NM_000051.4(ATM):c.3154-16A>C
NM_000051.4(ATM):c.3154-18del
NM_000051.4(ATM):c.3154-19C>T
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.3154-1_3154delinsTT rs2081657007
NM_000051.4(ATM):c.3154-20C>T rs1057522141
NM_000051.4(ATM):c.3154-2A>T rs730881357
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3154-7C>T rs756615573
NM_000051.4(ATM):c.3154-9T>C rs2135569385
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro) rs1064793036
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly) rs876660350
NM_000051.4(ATM):c.3158A>G (p.Asp1053Gly)
NM_000051.4(ATM):c.3158A>T (p.Asp1053Val) rs2081657910
NM_000051.4(ATM):c.315C>T (p.Ile105=) rs1057522344
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr) rs775095314
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser)
NM_000051.4(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.4(ATM):c.3162T>A (p.Pro1054=)
NM_000051.4(ATM):c.3162T>G (p.Pro1054=) rs2081658300
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter) rs1565428419
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
NM_000051.4(ATM):c.3170A>C (p.Lys1057Thr)
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
NM_000051.4(ATM):c.3171del (p.Lys1057fs)
NM_000051.4(ATM):c.3171dup (p.Trp1058fs) rs2135570105
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
NM_000051.4(ATM):c.3174G>A (p.Trp1058Ter) rs1064796080
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.4(ATM):c.3175G>T (p.Ala1059Ser) rs370282831
NM_000051.4(ATM):c.3177C>G (p.Ala1059=) rs1044910300
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val) rs2081660483
NM_000051.4(ATM):c.317A>G (p.Lys106Arg) rs878853501
NM_000051.4(ATM):c.3181C>G (p.Leu1061Val) rs1565428509
NM_000051.4(ATM):c.3181C>T (p.Leu1061Phe) rs1565428509
NM_000051.4(ATM):c.3181del (p.Asn1062fs) rs2081660777
NM_000051.4(ATM):c.3185A>C (p.Asn1062Thr)
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)
NM_000051.4(ATM):c.3186T>G (p.Asn1062Lys)
NM_000051.4(ATM):c.3187G>A (p.Val1063Ile) rs2135570586
NM_000051.4(ATM):c.3188T>C (p.Val1063Ala) rs2081661362
NM_000051.4(ATM):c.3188_3192del (p.Val1063fs) rs2135570486
NM_000051.4(ATM):c.3188dup (p.Met1064fs) rs2135570632
NM_000051.4(ATM):c.318A>C (p.Lys106Asn) rs1555055319
NM_000051.4(ATM):c.318del (p.Lys106fs) rs1591452378
NM_000051.4(ATM):c.318dup (p.Cys107fs) rs1591452378
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile) rs1480804197
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val) rs762810180
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.4(ATM):c.3197A>C (p.Lys1066Thr) rs926564671
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg) rs926564671
NM_000051.4(ATM):c.3198A>C (p.Lys1066Asn) rs1591609637
NM_000051.4(ATM):c.3198A>T (p.Lys1066Asn) rs1591609637
NM_000051.4(ATM):c.3198del (p.Asp1067fs)
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr) rs766342338
NM_000051.4(ATM):c.319T>C (p.Cys107Arg) rs864622508
NM_000051.4(ATM):c.3200A>G (p.Asp1067Gly) rs1591609662
NM_000051.4(ATM):c.3200A>T (p.Asp1067Val)
NM_000051.4(ATM):c.3201C>A (p.Asp1067Glu) rs1188674152
NM_000051.4(ATM):c.3201C>T (p.Asp1067=) rs1188674152
NM_000051.4(ATM):c.3202T>A (p.Phe1068Ile) rs1255200743
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu) rs1255200743
NM_000051.4(ATM):c.3202T>G (p.Phe1068Val)
NM_000051.4(ATM):c.3203_3204del (p.Phe1068fs) rs2135571055
NM_000051.4(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)
NM_000051.4(ATM):c.3206C>T (p.Pro1069Leu)
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3207T>C (p.Pro1069=) rs878853502
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile) rs587780620
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu) rs2135571268
NM_000051.4(ATM):c.3210A>T (p.Val1070=) rs1443665212
NM_000051.4(ATM):c.3213T>C (p.Asn1071=) rs786203221
NM_000051.4(ATM):c.3213del (p.Asn1071fs) rs2135571395
NM_000051.4(ATM):c.3214del (p.Glu1072fs)
NM_000051.4(ATM):c.3216del (p.Val1073fs) rs2135571457
NM_000051.4(ATM):c.3217G>A (p.Val1073Ile) rs2135571488
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile) rs756568555
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
NM_000051.4(ATM):c.3225A>G (p.Thr1075=) rs1555086107
NM_000051.4(ATM):c.3226C>T (p.Gln1076Ter)
NM_000051.4(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu) rs1555086111
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3232C>G (p.Leu1078Val)
NM_000051.4(ATM):c.3235G>A (p.Ala1079Thr) rs1565428827
NM_000051.4(ATM):c.3235_3236delinsTT (p.Ala1079Phe) rs1555086120
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly) rs778233602
NM_000051.4(ATM):c.3237T>G (p.Ala1079=)
NM_000051.4(ATM):c.3238G>A (p.Asp1080Asn)
NM_000051.4(ATM):c.3238_3240del (p.Asp1080del) rs2135572079
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly) rs757617016
NM_000051.4(ATM):c.3239A>T (p.Asp1080Val) rs757617016
NM_000051.4(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.4(ATM):c.323C>T (p.Ala108Val)
NM_000051.4(ATM):c.3241A>C (p.Asn1081His) rs2081666605
NM_000051.4(ATM):c.3241A>G (p.Asn1081Asp) rs2081666605
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3243T>C (p.Asn1081=) rs2135572258
NM_000051.4(ATM):c.3244C>G (p.His1082Asp) rs1302626569
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs) rs761486324
NM_000051.4(ATM):c.3245A>C (p.His1082Pro)
NM_000051.4(ATM):c.3245A>G (p.His1082Arg) rs1009749513
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3248A>T (p.His1083Leu) rs2081667850
NM_000051.4(ATM):c.3249C>G (p.His1083Gln) rs1246816005
NM_000051.4(ATM):c.324A>G (p.Ala108=) rs2135038430
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter) rs1386063673
NM_000051.4(ATM):c.3251A>G (p.Gln1084Arg) rs2081668405
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile) rs1555086177
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala) rs1284116426
NM_000051.4(ATM):c.3256C>G (p.Arg1086Gly)
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.4(ATM):c.3257G>T (p.Arg1086Leu) rs769857066
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3259A>G (p.Met1087Val)
NM_000051.4(ATM):c.325A>G (p.Asn109Asp) rs2135038523
NM_000051.4(ATM):c.325A>T (p.Asn109Tyr) rs2135038523
NM_000051.4(ATM):c.325_326del (p.Asn109fs) rs2135038488
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr) rs1460583900
NM_000051.4(ATM):c.3261del (p.Met1087fs) rs1565429054
NM_000051.4(ATM):c.3262T>C (p.Leu1088=) rs2081670323
NM_000051.4(ATM):c.3265G>C (p.Ala1089Pro) rs730881358
NM_000051.4(ATM):c.3266C>T (p.Ala1089Val) rs2135572925
NM_000051.4(ATM):c.3269C>T (p.Ala1090Val) rs1591610246
NM_000051.4(ATM):c.326A>G (p.Asn109Ser) rs2078893700
NM_000051.4(ATM):c.326dup (p.Asn109fs) rs2135038488
NM_000051.4(ATM):c.3270A>G (p.Ala1090=) rs997005308
NM_000051.4(ATM):c.3271G>A (p.Glu1091Lys) rs2135573046
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.4(ATM):c.3273_3284+42dup rs2081670756
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu) rs774197372
NM_000051.4(ATM):c.3276A>G (p.Ser1092=) rs2135573179
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val) rs876659667
NM_000051.4(ATM):c.3278T>G (p.Ile1093Ser) rs2135573226
NM_000051.4(ATM):c.3279C>T (p.Ile1093=)
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs) rs879254281
NM_000051.4(ATM):c.327C>A (p.Asn109Lys)
NM_000051.4(ATM):c.3280A>C (p.Asn1094His) rs1591610333
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp) rs1591610333
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3284+10C>G rs2081674914
NM_000051.4(ATM):c.3284+11A>C rs1565429231
NM_000051.4(ATM):c.3284+12A>G
NM_000051.4(ATM):c.3284+19A>G rs2135573831
NM_000051.4(ATM):c.3284+19A>T
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284+1del
NM_000051.4(ATM):c.3284+20T>C rs1448789912
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.3284+4A>G rs1591610423
NM_000051.4(ATM):c.3284+4del rs761592860
NM_000051.4(ATM):c.3284+6G>A
NM_000051.4(ATM):c.3284+7G>A rs371629629
NM_000051.4(ATM):c.3284+8G>A
NM_000051.4(ATM):c.3284+8dup rs886047611
NM_000051.4(ATM):c.3284+9T>C rs1555086278
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.3285-12G>A rs1057521452
NM_000051.4(ATM):c.3285-13_3285-9del rs2082112477
NM_000051.4(ATM):c.3285-13del rs1245305174
NM_000051.4(ATM):c.3285-14T>C rs2082112216
NM_000051.4(ATM):c.3285-16G>C
NM_000051.4(ATM):c.3285-27_3285-16del
NM_000051.4(ATM):c.3285-2896_3285-2893del
NM_000051.4(ATM):c.3285-2A>G rs1591631876
NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA rs2135642194
NM_000051.4(ATM):c.3285-2_3296dup rs1591631866
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3285-7T>C rs913535107
NM_000051.4(ATM):c.3285-8G>A rs1469259085
NM_000051.4(ATM):c.3285-8G>C rs1469259085
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3285A>G (p.Arg1095=)
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser) rs2082114508
NM_000051.4(ATM):c.3288G>A (p.Leu1096=) rs2135642354
NM_000051.4(ATM):c.328A>G (p.Arg110Gly) rs2078893781
NM_000051.4(ATM):c.3291C>T (p.Phe1097=)
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu) rs773964990
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter) rs773964990
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3296A>G (p.Asp1099Gly) rs587778072
NM_000051.4(ATM):c.3296A>T (p.Asp1099Val) rs587778072
NM_000051.4(ATM):c.3297C>G (p.Asp1099Glu)
NM_000051.4(ATM):c.3297del (p.Asp1099fs) rs2082115419
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro) rs2082115524
NM_000051.4(ATM):c.3298A>G (p.Thr1100Ala) rs2082115524
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
NM_000051.4(ATM):c.3300G>T (p.Thr1100=) rs587780621
NM_000051.4(ATM):c.3302A>C (p.Lys1101Thr)
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg) rs147557621
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn) rs1555090114
NM_000051.4(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala) rs1555090118
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.4(ATM):c.3308A>T (p.Asp1103Val) rs1555090118
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu) rs764102178
NM_000051.4(ATM):c.330A>C (p.Arg110Ser) rs1555055350
NM_000051.4(ATM):c.331+10G>C rs755557468
NM_000051.4(ATM):c.331+11T>C
NM_000051.4(ATM):c.331+12T>C rs2135039169
NM_000051.4(ATM):c.331+13A>G
NM_000051.4(ATM):c.331+17A>G
NM_000051.4(ATM):c.331+17A>T
NM_000051.4(ATM):c.331+18T>C
NM_000051.4(ATM):c.331+18T>G
NM_000051.4(ATM):c.331+19T>G
NM_000051.4(ATM):c.331+19_331+25del
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+20A>G
NM_000051.4(ATM):c.331+21_331+26del rs2078895533
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.331+2T>G rs1555055358
NM_000051.4(ATM):c.331+3A>C rs2078894221
NM_000051.4(ATM):c.331+3A>T
NM_000051.4(ATM):c.331+4A>G
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.331+5G>C
NM_000051.4(ATM):c.331+8A>G rs878853503
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys) rs1555090126
NM_000051.4(ATM):c.3312T>C (p.Ser1104=)
NM_000051.4(ATM):c.3314C>A (p.Ser1105Tyr) rs141999815
NM_000051.4(ATM):c.3314C>G (p.Ser1105Cys)
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.3316A>C (p.Arg1106=) rs2135643101
NM_000051.4(ATM):c.3316A>G (p.Arg1106Gly)
NM_000051.4(ATM):c.3317G>A (p.Arg1106Lys)
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
NM_000051.4(ATM):c.332-1009A>T
NM_000051.4(ATM):c.332-11T>A
NM_000051.4(ATM):c.332-11T>C rs1565356404
NM_000051.4(ATM):c.332-15T>G
NM_000051.4(ATM):c.332-16G>C rs2135120413
NM_000051.4(ATM):c.332-16G>T
NM_000051.4(ATM):c.332-16_332-13del
NM_000051.4(ATM):c.332-20A>G rs1555058985
NM_000051.4(ATM):c.332-20A>T
NM_000051.4(ATM):c.332-20_332-17del rs898739905
NM_000051.4(ATM):c.332-3_347del
NM_000051.4(ATM):c.332-4A>G
NM_000051.4(ATM):c.332-4A>T rs2135120646
NM_000051.4(ATM):c.332-7G>A rs1591474291
NM_000051.4(ATM):c.332-7G>C rs1591474291
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.332-8T>A rs2079233073
NM_000051.4(ATM):c.332-8T>C
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.4(ATM):c.3321A>G (p.Leu1107=)
NM_000051.4(ATM):c.3321A>T (p.Leu1107Phe) rs2135643264
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro) rs2082117640
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val) rs1479434069
NM_000051.4(ATM):c.3330A>C (p.Ala1110=) rs1009383081
NM_000051.4(ATM):c.3331C>T (p.Leu1111Phe)
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser) rs876658963
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.4(ATM):c.3335del (p.Pro1112fs) rs876660031
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met) rs1022672642
NM_000051.4(ATM):c.3337T>C (p.Leu1113=)
NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter) rs1591632166
NM_000051.4(ATM):c.3338T>C (p.Leu1113Ser) rs1591632166
NM_000051.4(ATM):c.3339G>A (p.Leu1113=) rs1591632173
NM_000051.4(ATM):c.333A>G (p.Arg111=) rs2135120788
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu) rs1049900772
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe) rs752339681
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3346del (p.Gln1116fs)
NM_000051.4(ATM):c.3347A>C (p.Gln1116Pro) rs1555090213
NM_000051.4(ATM):c.3347A>T (p.Gln1116Leu)
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.4(ATM):c.3349_3384del (p.Gln1117_Gln1128del) rs2135643982
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg) rs755828033
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3352del (p.Thr1118fs) rs2082120435
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3355G>T (p.Ala1119Ser) rs786201956
NM_000051.4(ATM):c.3356C>A (p.Ala1119Asp) rs778882461
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val) rs778882461
NM_000051.4(ATM):c.335C>A (p.Ala112Glu) rs1591474358
NM_000051.4(ATM):c.335C>T (p.Ala112Val) rs1591474358
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu) rs2082121277
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly) rs876660607
NM_000051.4(ATM):c.3366T>C (p.Asn1122=) rs2135644622
NM_000051.4(ATM):c.3366del (p.Asn1122fs)
NM_000051.4(ATM):c.3367G>A (p.Ala1123Thr) rs1060501581
NM_000051.4(ATM):c.3367G>C (p.Ala1123Pro) rs1060501581
NM_000051.4(ATM):c.3368C>A (p.Ala1123Glu) rs2135644677
NM_000051.4(ATM):c.3368C>T (p.Ala1123Val)
NM_000051.4(ATM):c.3369A>T (p.Ala1123=) rs587780543
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.4(ATM):c.336A>G (p.Ala112=) rs777759909
NM_000051.4(ATM):c.336A>T (p.Ala112=) rs777759909
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His) rs2082121841
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys) rs876660498
NM_000051.4(ATM):c.3372C>T (p.Tyr1124=) rs587779833
NM_000051.4(ATM):c.3373T>G (p.Leu1125Val) rs775277598
NM_000051.4(ATM):c.3375G>A (p.Leu1125=) rs760821273
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu) rs1310591343
NM_000051.4(ATM):c.3376_3377insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2135644510
NM_000051.4(ATM):c.3376_3377insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126fs) rs2135644510
NM_000051.4(ATM):c.3380C>A (p.Ala1127Asp) rs1555090340
NM_000051.4(ATM):c.3381T>C (p.Ala1127=) rs1371503633
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter) rs876659825
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys) rs876658463
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.4(ATM):c.3389G>C (p.Gly1130Ala) rs1060501544
NM_000051.4(ATM):c.3389G>T (p.Gly1130Val)
NM_000051.4(ATM):c.338C>T (p.Pro113Leu) rs876658324
NM_000051.4(ATM):c.3392T>C (p.Met1131Thr) rs2082123790
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile) rs1565439576
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.3395G>A (p.Arg1132Lys) rs2135645575
NM_000051.4(ATM):c.3396A>T (p.Arg1132Ser)
NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)
NM_000051.4(ATM):c.3398A>C (p.Glu1133Ala)
NM_000051.4(ATM):c.3398A>G (p.Glu1133Gly) rs1565439583
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.4(ATM):c.3399A>C (p.Glu1133Asp) rs1555090364
NM_000051.4(ATM):c.339T>C (p.Pro113=) rs1555059023
NM_000051.4(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.4(ATM):c.3400A>C (p.Met1134Leu) rs1591632583
NM_000051.4(ATM):c.3400A>G (p.Met1134Val) rs1591632583
NM_000051.4(ATM):c.3402+10A>G rs919002854
NM_000051.4(ATM):c.3402+13A>C rs2082125198
NM_000051.4(ATM):c.3402+13A>G
NM_000051.4(ATM):c.3402+16A>T
NM_000051.4(ATM):c.3402+17T>A
NM_000051.4(ATM):c.3402+17T>G
NM_000051.4(ATM):c.3402+18G>A rs752000273
NM_000051.4(ATM):c.3402+18G>C rs752000273
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+1G>T rs1565439606
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3403-15dup rs1555091083
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3403-1G>T
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-5_3403-4del
NM_000051.4(ATM):c.3403-6T>C rs2082201418
NM_000051.4(ATM):c.3403-6T>G rs2082201418
NM_000051.4(ATM):c.3403-7T>C rs1335592958
NM_000051.4(ATM):c.3403-8T>C
NM_000051.4(ATM):c.3403-8_3403-4del rs1555091114
NM_000051.4(ATM):c.3403-9C>A rs375483605
NM_000051.4(ATM):c.3403-9C>T rs375483605
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr) rs2082202102
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
NM_000051.4(ATM):c.3405C>T (p.Ser1135=) rs746829748
NM_000051.4(ATM):c.3408T>G (p.His1136Gln) rs1565441369
NM_000051.4(ATM):c.3409A>G (p.Ser1137Gly)
NM_000051.4(ATM):c.340A>G (p.Arg114Gly) rs927409082
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys) rs786203048
NM_000051.4(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.4(ATM):c.3417G>C (p.Glu1139Asp) rs879254069
NM_000051.4(ATM):c.3419A>G (p.Asn1140Ser)
NM_000051.4(ATM):c.3420C>T (p.Asn1140=) rs1329688204
NM_000051.4(ATM):c.3421C>G (p.Pro1141Ala)
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
NM_000051.4(ATM):c.3424G>A (p.Glu1142Lys) rs2082203589
NM_000051.4(ATM):c.3425A>C (p.Glu1142Ala) rs2082203682
NM_000051.4(ATM):c.3427A>T (p.Thr1143Ser) rs1555091146
NM_000051.4(ATM):c.3428C>T (p.Thr1143Ile) rs748375410
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
NM_000051.4(ATM):c.342G>A (p.Arg114=) rs1555059036
NM_000051.4(ATM):c.342G>C (p.Arg114Ser) rs1555059036
NM_000051.4(ATM):c.3430T>C (p.Leu1144=) rs2135665912
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser) rs879253949
NM_000051.4(ATM):c.3431del (p.Leu1144fs) rs1555091158
NM_000051.4(ATM):c.3433G>T (p.Asp1145Tyr)
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala) rs1183646267
NM_000051.4(ATM):c.3434A>G (p.Asp1145Gly) rs1183646267
NM_000051.4(ATM):c.3434A>T (p.Asp1145Val) rs1183646267
NM_000051.4(ATM):c.3434dup (p.Asp1145fs)
NM_000051.4(ATM):c.3435T>C (p.Asp1145=) rs2082204446
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys) rs1565441511
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter) rs1565441511
NM_000051.4(ATM):c.3437A>G (p.Glu1146Gly) rs1555091169
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val) rs769853739
NM_000051.4(ATM):c.343C>G (p.Leu115Val) rs1555059048
NM_000051.4(ATM):c.3442del (p.Tyr1148fs) rs2135666319
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=) rs1591636407
NM_000051.4(ATM):c.3445A>G (p.Asn1149Asp)
NM_000051.4(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.4(ATM):c.3447T>G (p.Asn1149Lys)
NM_000051.4(ATM):c.3447del (p.Asn1149fs) rs2135666442
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter) rs786201209
NM_000051.4(ATM):c.3449G>A (p.Arg1150Lys) rs555219189
NM_000051.4(ATM):c.3450A>G (p.Arg1150=) rs2135666527
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln)
NM_000051.4(ATM):c.3453dup (p.Ser1152fs) rs2135666539
NM_000051.4(ATM):c.3454T>C (p.Ser1152Pro) rs1176188506
NM_000051.4(ATM):c.3454T>G (p.Ser1152Ala) rs1176188506
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr) rs775045299
NM_000051.4(ATM):c.3455C>G (p.Ser1152Cys) rs775045299
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs) rs2135666711
NM_000051.4(ATM):c.3457G>A (p.Val1153Ile) rs863224562
NM_000051.4(ATM):c.3457G>C (p.Val1153Leu) rs863224562
NM_000051.4(ATM):c.3457G>T (p.Val1153Phe) rs863224562
NM_000051.4(ATM):c.3458T>C (p.Val1153Ala) rs12788418
NM_000051.4(ATM):c.345A>C (p.Leu115=)
NM_000051.4(ATM):c.345A>G (p.Leu115=) rs2079235213
NM_000051.4(ATM):c.3460T>C (p.Leu1154=) rs1591636498
NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter) rs2135666960
NM_000051.4(ATM):c.3461T>C (p.Leu1154Ser) rs2135666960
NM_000051.4(ATM):c.3463C>T (p.Leu1155=) rs1555091217
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
NM_000051.4(ATM):c.3469T>G (p.Leu1157Val) rs2082206791
NM_000051.4(ATM):c.346A>C (p.Lys116Gln)
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser) rs2135667225
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3472A>T (p.Ile1158Leu)
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser) rs2135667356
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)
NM_000051.4(ATM):c.3479T>G (p.Val1160Gly) rs12788427
NM_000051.4(ATM):c.3480G>A (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3480G>T (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3481G>A (p.Val1161Ile) rs1565441792
NM_000051.4(ATM):c.3481G>C (p.Val1161Leu) rs1565441792
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala) rs12788429
NM_000051.4(ATM):c.3484T>C (p.Leu1162=)
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3485del (p.Leu1162fs) rs2082207948
NM_000051.4(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.4(ATM):c.3489dup (p.Cys1164fs) rs2082208208
NM_000051.4(ATM):c.3490T>G (p.Cys1164Gly) rs2135667927
NM_000051.4(ATM):c.3491G>A (p.Cys1164Tyr) rs2082208412
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly) rs1351059730
NM_000051.4(ATM):c.3493A>T (p.Ser1165Cys) rs1351059730
NM_000051.4(ATM):c.3494G>A (p.Ser1165Asn)
NM_000051.4(ATM):c.3494G>T (p.Ser1165Ile) rs2082208653
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.4(ATM):c.3495C>T (p.Ser1165=) rs878853505
NM_000051.4(ATM):c.3496C>T (p.Pro1166Ser) rs867360777
NM_000051.4(ATM):c.3497C>G (p.Pro1166Arg)
NM_000051.4(ATM):c.3498T>C (p.Pro1166=) rs1555091273
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.4(ATM):c.34T>C (p.Cys12Arg) rs1060501597
NM_000051.4(ATM):c.3501C>A (p.Ile1167=)
NM_000051.4(ATM):c.3501C>T (p.Ile1167=) rs1555091279
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3507A>G (p.Glu1169=) rs1555091291
NM_000051.4(ATM):c.3507A>T (p.Glu1169Asp) rs1555091291
NM_000051.4(ATM):c.3509A>C (p.Lys1170Thr) rs1591636761
NM_000051.4(ATM):c.3509A>T (p.Lys1170Ile)
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr) rs1555059066
NM_000051.4(ATM):c.350G>T (p.Cys117Phe) rs1555059066
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu) rs876659067
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs) rs1555091302
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
NM_000051.4(ATM):c.3513G>A (p.Gln1171=) rs757201878
NM_000051.4(ATM):c.3513G>C (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3513G>T (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val) rs2082210652
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val) rs141460670
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3519G>T (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.3521T>A (p.Phe1174Tyr) rs1416574870
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
NM_000051.4(ATM):c.3523del (p.Ala1175fs) rs2135669053
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro) rs587782762
NM_000051.4(ATM):c.3527del (p.Leu1176fs) rs2135669236
NM_000051.4(ATM):c.3528G>A (p.Leu1176=)
NM_000051.4(ATM):c.3528G>T (p.Leu1176=) rs748335454
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg) rs2135669298
NM_000051.4(ATM):c.352C>T (p.Gln118Ter) rs2079235532
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.4(ATM):c.3531T>C (p.Cys1177=) rs876659546
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln) rs1555091359
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.4(ATM):c.3533A>G (p.Lys1178Arg) rs1565442144
NM_000051.4(ATM):c.3534A>G (p.Lys1178=)
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro) rs2135669484
NM_000051.4(ATM):c.3538G>A (p.Val1180Met) rs1060501531
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.353A>G (p.Gln118Arg) rs1555059070
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs) rs768356403
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp) rs773290999
NM_000051.4(ATM):c.354A>G (p.Gln118=) rs1188306380
NM_000051.4(ATM):c.3550G>T (p.Gly1184Ter) rs1555091402
NM_000051.4(ATM):c.3551G>A (p.Gly1184Glu) rs2135669947
NM_000051.4(ATM):c.3552A>T (p.Gly1184=)
NM_000051.4(ATM):c.3553T>C (p.Leu1185=)
NM_000051.4(ATM):c.3557A>T (p.Glu1186Val) rs2082213706
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3558A>T (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3559C>T (p.Pro1187Ser) rs2082213794
NM_000051.4(ATM):c.3562C>T (p.His1188Tyr) rs2082213882
NM_000051.4(ATM):c.3563A>C (p.His1188Pro) rs12786960
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)
NM_000051.4(ATM):c.3570G>A (p.Val1190=) rs1347241379
NM_000051.4(ATM):c.3571_3576+1del rs2135670424
NM_000051.4(ATM):c.3575A>C (p.Lys1192Thr)
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg) rs1555091451
NM_000051.4(ATM):c.3576+10G>T
NM_000051.4(ATM):c.3576+12_3576+14del
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576+3A>G rs2082214908
NM_000051.4(ATM):c.3576+4T>C rs1591637164
NM_000051.4(ATM):c.3576+7A>G rs761486334
NM_000051.4(ATM):c.3576+8T>C rs1591637198
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3577-10G>A rs1343046904
NM_000051.4(ATM):c.3577-10G>C
NM_000051.4(ATM):c.3577-11G>C rs2135685988
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.3577-13_3577-12del rs730881288
NM_000051.4(ATM):c.3577-14T>C rs2082292356
NM_000051.4(ATM):c.3577-15T>C rs1057521733
NM_000051.4(ATM):c.3577-16T>A
NM_000051.4(ATM):c.3577-16T>G
NM_000051.4(ATM):c.3577-17del
NM_000051.4(ATM):c.3577-18A>G rs2135685737
NM_000051.4(ATM):c.3577-19G>A
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3577-20T>G rs921452019
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3577-30C>T rs751436997
NM_000051.4(ATM):c.3577-3C>A rs876659700
NM_000051.4(ATM):c.3577-3C>G rs876659700
NM_000051.4(ATM):c.3577-4G>T rs2135686331
NM_000051.4(ATM):c.3577-5T>C rs1555092229
NM_000051.4(ATM):c.3577-6G>C
NM_000051.4(ATM):c.3577-7C>A rs558667657
NM_000051.4(ATM):c.3577-8T>C rs1555092222
NM_000051.4(ATM):c.3577-9T>G
NM_000051.4(ATM):c.3577-9_3583del rs1555092219
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala) rs1591640918
NM_000051.4(ATM):c.3579T>G (p.Val1193=) rs1555092241
NM_000051.4(ATM):c.357dup (p.Leu120fs) rs1591474530
NM_000051.4(ATM):c.3581T>C (p.Leu1194Ser) rs2082294481
NM_000051.4(ATM):c.3582A>G (p.Leu1194=) rs1591640938
NM_000051.4(ATM):c.3583G>C (p.Glu1195Gln) rs2135686630
NM_000051.4(ATM):c.3584A>G (p.Glu1195Gly) rs1167713135
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
NM_000051.4(ATM):c.3586A>G (p.Lys1196Glu) rs2135686751
NM_000051.4(ATM):c.3587A>T (p.Lys1196Ile)
NM_000051.4(ATM):c.3587_3588del (p.Lys1196fs)
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala) rs1555092259
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro) rs1555092260
NM_000051.4(ATM):c.3593C>G (p.Ser1198Cys)
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe) rs2135686922
NM_000051.4(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.4(ATM):c.3596A>C (p.Glu1199Ala)
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.4(ATM):c.3597A>G (p.Glu1199=) rs2135687051
NM_000051.4(ATM):c.3598A>G (p.Thr1200Ala) rs772741084
NM_000051.4(ATM):c.3599C>A (p.Thr1200Asn)
NM_000051.4(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.3600T>C (p.Thr1200=)
NM_000051.4(ATM):c.3601T>G (p.Phe1201Val) rs576884305
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3603T>C (p.Phe1201=) rs1591641079
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3604G>C (p.Gly1202Arg)
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.4(ATM):c.3605G>T (p.Gly1202Val) rs1555092285
NM_000051.4(ATM):c.3606A>C (p.Gly1202=) rs1189826741
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.4(ATM):c.360C>G (p.Leu120=) rs749489010
NM_000051.4(ATM):c.360C>T (p.Leu120=) rs749489010
NM_000051.4(ATM):c.3610A>G (p.Arg1204Gly) rs2135687439
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
NM_000051.4(ATM):c.3613_3614insTTTATGTTTAGAA (p.Arg1205delinsLeuTyrValTer)
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser) rs1555092317
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
NM_000051.4(ATM):c.3617_3620del (p.Arg1205_Leu1206insTer) rs2135687676
NM_000051.4(ATM):c.3617dup (p.Leu1206fs) rs2082297073
NM_000051.4(ATM):c.3618A>C (p.Leu1206Phe) rs786201151
NM_000051.4(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln) rs772724024
NM_000051.4(ATM):c.361T>C (p.Leu121=) rs587782178
NM_000051.4(ATM):c.3620A>G (p.Glu1207Gly) rs1555092330
NM_000051.4(ATM):c.3621A>G (p.Glu1207=) rs2135687824
NM_000051.4(ATM):c.3622G>A (p.Asp1208Asn)
NM_000051.4(ATM):c.3623A>G (p.Asp1208Gly) rs2135687915
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
NM_000051.4(ATM):c.3625T>G (p.Phe1209Val)
NM_000051.4(ATM):c.3625_3626insCTCA (p.Phe1209fs) rs2135688037
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3626_3628delinsCTCATTAGAGAGTCTCATTAGATTATC (p.Phe1209_Met1210delinsSerHisTer)
NM_000051.4(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3628A>C (p.Met1210Leu)
NM_000051.4(ATM):c.3628A>T (p.Met1210Leu)
NM_000051.4(ATM):c.3629T>C (p.Met1210Thr) rs192572042
NM_000051.4(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr) rs745467552
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)
NM_000051.4(ATM):c.3633A>G (p.Ala1211=) rs2135688329
NM_000051.4(ATM):c.3636T>C (p.Ser1212=) rs2135688431
NM_000051.4(ATM):c.3639T>G (p.His1213Gln) rs142766756
NM_000051.4(ATM):c.3640T>G (p.Leu1214Val) rs2082299514
NM_000051.4(ATM):c.3643G>C (p.Asp1215His) rs1366216756
NM_000051.4(ATM):c.3646T>G (p.Tyr1216Asp)
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.4(ATM):c.3648del (p.Leu1217fs) rs2135688794
NM_000051.4(ATM):c.364A>G (p.Asn122Asp) rs2079236749
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln) rs1555092405
NM_000051.4(ATM):c.3650T>C (p.Leu1217Pro) rs1555092405
NM_000051.4(ATM):c.3651G>C (p.Leu1217=)
NM_000051.4(ATM):c.3652G>T (p.Val1218Phe) rs2082300484
NM_000051.4(ATM):c.3654T>A (p.Val1218=) rs2135688939
NM_000051.4(ATM):c.3657G>C (p.Leu1219Phe) rs901820882
NM_000051.4(ATM):c.3658G>A (p.Glu1220Lys) rs1565444811
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln) rs1565444811
NM_000051.4(ATM):c.3659A>G (p.Glu1220Gly)
NM_000051.4(ATM):c.365A>C (p.Asn122Thr) rs1060501596
NM_000051.4(ATM):c.365A>G (p.Asn122Ser) rs1060501596
NM_000051.4(ATM):c.365del (p.Asn122fs)
NM_000051.4(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg) rs1565444832
NM_000051.4(ATM):c.3662G>C (p.Trp1221Ser)
NM_000051.4(ATM):c.3663G>T (p.Trp1221Cys) rs864622490
NM_000051.4(ATM):c.3664_3666delinsAT (p.Leu1222fs)
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.4(ATM):c.3665T>G (p.Leu1222Arg) rs863224563
NM_000051.4(ATM):c.3666A>G (p.Leu1222=)
NM_000051.4(ATM):c.3667A>T (p.Asn1223Tyr) rs1436681116
NM_000051.4(ATM):c.3668A>G (p.Asn1223Ser) rs2082301149
NM_000051.4(ATM):c.3668A>T (p.Asn1223Ile)
NM_000051.4(ATM):c.3669T>A (p.Asn1223Lys) rs1591641397
NM_000051.4(ATM):c.3669T>C (p.Asn1223=) rs1591641397
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter) rs2082301397
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.3674A>G (p.Gln1225Arg) rs2135689501
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.4(ATM):c.3676G>A (p.Asp1226Asn)
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.4(ATM):c.3678T>C (p.Asp1226=) rs1591641476
NM_000051.4(ATM):c.3680C>A (p.Thr1227Asn) rs1229454563
NM_000051.4(ATM):c.3680C>G (p.Thr1227Ser)
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs) rs2082302853
NM_000051.4(ATM):c.3681T>C (p.Thr1227=) rs1388109606
NM_000051.4(ATM):c.3682G>A (p.Glu1228Lys) rs1334793787
NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter) rs1334793787
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys) rs1591641518
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter) rs2082303743
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=) rs2082303743
NM_000051.4(ATM):c.3688A>G (p.Asn1230Asp) rs2082303886
NM_000051.4(ATM):c.3688A>T (p.Asn1230Tyr) rs2082303886
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile) rs587782195
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys) rs759673348
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.3690C>G (p.Asn1230Lys) rs1555092475
NM_000051.4(ATM):c.3690C>T (p.Asn1230=) rs1555092475
NM_000051.4(ATM):c.3691T>C (p.Leu1231=) rs1210990672
NM_000051.4(ATM):c.3691_3692del (p.Leu1231fs)
NM_000051.4(ATM):c.3692_3716del (p.Asn1230_Leu1231insTer) rs2082304563
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs) rs1555092477
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe) rs367603277
NM_000051.4(ATM):c.3695CTT[1] (p.Ser1233del) rs1555092499
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)
NM_000051.4(ATM):c.3698C>T (p.Ser1233Phe)
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs) rs2082305146
NM_000051.4(ATM):c.36C>A (p.Cys12Ter)
NM_000051.4(ATM):c.36C>T (p.Cys12=) rs2135005147
NM_000051.4(ATM):c.3702T>G (p.Phe1234Leu) rs876659605
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del) rs1591641635
NM_000051.4(ATM):c.3704C>T (p.Pro1235Leu)
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs) rs2135690451
NM_000051.4(ATM):c.3707T>C (p.Phe1236Ser) rs2082306350
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3713T>C (p.Leu1238Ser)
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)
NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT (p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer) rs2135690630
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)
NM_000051.4(ATM):c.371T>C (p.Ile124Thr) rs1555059132
NM_000051.4(ATM):c.3721_3722del (p.Tyr1241fs) rs2135690723
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del) rs1555092538
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys) rs587782688
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala) rs1591641743
NM_000051.4(ATM):c.3725C>A (p.Thr1242Lys) rs1266811647
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg) rs1266811647
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile) rs730881363
NM_000051.4(ATM):c.3728dup (p.Asn1243fs)
NM_000051.4(ATM):c.372C>T (p.Ile124=) rs773495195
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val) rs2135690906
NM_000051.4(ATM):c.3731T>C (p.Ile1244Thr) rs1159658224
NM_000051.4(ATM):c.3732T>C (p.Ile1244=) rs2135690957
NM_000051.4(ATM):c.3732del (p.Ile1244fs)
NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter) rs2082308153
NM_000051.4(ATM):c.3735_3742dup (p.Tyr1248fs)
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile) rs886506379
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser) rs1064793581
NM_000051.4(ATM):c.3741C>G (p.Phe1247Leu)
NM_000051.4(ATM):c.3741C>T (p.Phe1247=) rs780396420
NM_000051.4(ATM):c.3742T>C (p.Tyr1248His) rs1180341161
NM_000051.4(ATM):c.3743A>C (p.Tyr1248Ser) rs766226370
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe) rs766226370
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=) rs1555092589
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
NM_000051.4(ATM):c.3746+10T>C
NM_000051.4(ATM):c.3746+11A>G rs2082309757
NM_000051.4(ATM):c.3746+13A>G rs777055245
NM_000051.4(ATM):c.3746+15_3746+19del
NM_000051.4(ATM):c.3746+16A>G
NM_000051.4(ATM):c.3746+18A>G rs2082310429
NM_000051.4(ATM):c.3746+18A>T
NM_000051.4(ATM):c.3746+19T>A
NM_000051.4(ATM):c.3746+19T>C
NM_000051.4(ATM):c.3746+1G>A rs2082309297
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3746+20A>G rs1555092607
NM_000051.4(ATM):c.3746+20_3746+21del rs2135691794
NM_000051.4(ATM):c.3746+3A>C
NM_000051.4(ATM):c.3746+3A>G rs2135691310
NM_000051.4(ATM):c.3746+452_4363del
NM_000051.4(ATM):c.3746+4A>C rs1555092593
NM_000051.4(ATM):c.3746+4A>G rs1555092593
NM_000051.4(ATM):c.3746+5G>A rs876658419
NM_000051.4(ATM):c.3746+7T>G
NM_000051.4(ATM):c.3746+8T>G
NM_000051.4(ATM):c.3746+9A>G
NM_000051.4(ATM):c.3746G>A (p.Arg1249Lys)
NM_000051.4(ATM):c.3746G>C (p.Arg1249Thr)
NM_000051.4(ATM):c.3747-10C>A
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-10C>T
NM_000051.4(ATM):c.3747-11T>C rs2135703873
NM_000051.4(ATM):c.3747-11del
NM_000051.4(ATM):c.3747-14T>G rs2082371250
NM_000051.4(ATM):c.3747-16A>T
NM_000051.4(ATM):c.3747-19T>C
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3747-3_3751del rs1555093256
NM_000051.4(ATM):c.3747-3dup rs2135703985
NM_000051.4(ATM):c.3747-7T>C rs1057523136
NM_000051.4(ATM):c.3747-7T>G rs1057523136
NM_000051.4(ATM):c.3747A>C (p.Arg1249Ser)
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro) rs1555093268
NM_000051.4(ATM):c.3749C>A (p.Ser1250Tyr) rs1555093273
NM_000051.4(ATM):c.3749C>T (p.Ser1250Phe)
NM_000051.4(ATM):c.374T>C (p.Met125Thr) rs2079237952
NM_000051.4(ATM):c.3750T>C (p.Ser1250=) rs2135704195
NM_000051.4(ATM):c.3751T>C (p.Cys1251Arg) rs763730862
NM_000051.4(ATM):c.3752G>A (p.Cys1251Tyr) rs1427548500
NM_000051.4(ATM):c.3752G>T (p.Cys1251Phe) rs1427548500
NM_000051.4(ATM):c.3753T>C (p.Cys1251=) rs2135704274
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3755A>C (p.Tyr1252Ser)
NM_000051.4(ATM):c.3755A>G (p.Tyr1252Cys)
NM_000051.4(ATM):c.3755A>T (p.Tyr1252Phe) rs2135704378
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756T>G (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3758A>C (p.Lys1253Thr)
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs) rs2135704536
NM_000051.4(ATM):c.375G>A (p.Met125Ile) rs1591474725
NM_000051.4(ATM):c.375G>T (p.Met125Ile)
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile) rs753717865
NM_000051.4(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.3764T>C (p.Leu1255Ser) rs2082374257
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.4(ATM):c.3767T>G (p.Ile1256Ser)
NM_000051.4(ATM):c.3768T>A (p.Ile1256=) rs765538231
NM_000051.4(ATM):c.3769C>G (p.Pro1257Ala) rs1565447002
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr) rs2079238248
NM_000051.4(ATM):c.3770C>A (p.Pro1257Gln)
NM_000051.4(ATM):c.3770C>T (p.Pro1257Leu) rs758405529
NM_000051.4(ATM):c.3771A>G (p.Pro1257=) rs1057523320
NM_000051.4(ATM):c.3771A>T (p.Pro1257=)
NM_000051.4(ATM):c.3771dup (p.His1258fs)
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.3772C>T (p.His1258Tyr) rs587782741
NM_000051.4(ATM):c.3773A>G (p.His1258Arg) rs1555093334
NM_000051.4(ATM):c.3775C>T (p.Leu1259=)
NM_000051.4(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.377A>C (p.Asp126Ala)
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)
NM_000051.4(ATM):c.3780G>A (p.Val1260=) rs2135705020
NM_000051.4(ATM):c.3783T>C (p.Ile1261=) rs1005444925
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3783del (p.Arg1262fs) rs2082375533
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly) rs1591645509
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter) rs1591645509
NM_000051.4(ATM):c.3785G>A (p.Arg1262Lys) rs786203618
NM_000051.4(ATM):c.3785G>C (p.Arg1262Thr) rs786203618
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3786A>G (p.Arg1262=) rs2135705167
NM_000051.4(ATM):c.3787A>G (p.Ser1263Gly) rs1276194109
NM_000051.4(ATM):c.3788G>T (p.Ser1263Ile) rs2082376058
NM_000051.4(ATM):c.3789T>C (p.Ser1263=)
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3790C>A (p.His1264Asn) rs2135705273
NM_000051.4(ATM):c.3790C>T (p.His1264Tyr)
NM_000051.4(ATM):c.3791A>C (p.His1264Pro)
NM_000051.4(ATM):c.3792T>C (p.His1264=) rs2135705306
NM_000051.4(ATM):c.3793T>G (p.Phe1265Val) rs371526361
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser) rs1565447114
NM_000051.4(ATM):c.3795T>G (p.Phe1265Leu)
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn) rs2135705400
NM_000051.4(ATM):c.3796G>C (p.Asp1266His) rs2135705400
NM_000051.4(ATM):c.379A>G (p.Thr127Ala) rs587781741
NM_000051.4(ATM):c.37C>A (p.Arg13Ser) rs141586345
NM_000051.4(ATM):c.37C>G (p.Arg13Gly) rs141586345
NM_000051.4(ATM):c.3800A>T (p.Glu1267Val) rs781357995
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3803T>C (p.Val1268Ala) rs1269513731
NM_000051.4(ATM):c.3807G>A (p.Lys1269=) rs2135705663
NM_000051.4(ATM):c.3810C>A (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3810C>T (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3811A>G (p.Ile1271Val) rs1555093407
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr) rs1308232635
NM_000051.4(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.4(ATM):c.3814G>A (p.Ala1272Thr) rs1555093420
NM_000051.4(ATM):c.3815C>A (p.Ala1272Asp) rs2082377659
NM_000051.4(ATM):c.3816T>C (p.Ala1272=)
NM_000051.4(ATM):c.381A>C (p.Thr127=)
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3820C>G (p.Gln1274Glu)
NM_000051.4(ATM):c.3821A>G (p.Gln1274Arg) rs1060501624
NM_000051.4(ATM):c.3821_3822delinsTA (p.Gln1274Leu) rs1591645650
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro) rs770183693
NM_000051.4(ATM):c.3828A>G (p.Gln1276=) rs1318728821
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln) rs1591645689
NM_000051.4(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.4(ATM):c.382G>C (p.Val128Leu) rs587779835
NM_000051.4(ATM):c.382G>T (p.Val128Leu)
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly) rs1555093463
NM_000051.4(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.4(ATM):c.3832G>C (p.Asp1278His) rs730881365
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.4(ATM):c.3834C>T (p.Asp1278=)
NM_000051.4(ATM):c.3835T>C (p.Trp1279Arg)
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg) rs2082379727
NM_000051.4(ATM):c.3840A>G (p.Lys1280=) rs2135706465
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
NM_000051.4(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn) rs1064797161
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg) rs863224565
NM_000051.4(ATM):c.3843TCT[1] (p.Leu1283del)
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile) rs876660568
NM_000051.4(ATM):c.3844C>G (p.Leu1282Val) rs876660568
NM_000051.4(ATM):c.3846T>C (p.Leu1282=) rs2135706640
NM_000051.4(ATM):c.3847C>T (p.Leu1283=)
NM_000051.4(ATM):c.3849A>G (p.Leu1283=) rs1591645848
NM_000051.4(ATM):c.384G>A (p.Val128=) rs1555059177
NM_000051.4(ATM):c.384G>C (p.Val128=) rs1555059177
NM_000051.4(ATM):c.3850A>G (p.Thr1284Ala) rs879175186
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg) rs1200767902
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3853_3854delinsAT (p.Asp1285Ile)
NM_000051.4(ATM):c.3854A>G (p.Asp1285Gly) rs2082381245
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser) rs876660770
NM_000051.4(ATM):c.3858C>A (p.Cys1286Ter) rs2082381612
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
NM_000051.4(ATM):c.385A>C (p.Lys129Gln) rs2079239070
NM_000051.4(ATM):c.3863C>T (p.Pro1288Leu) rs2135707043
NM_000051.4(ATM):c.3865A>C (p.Lys1289Gln)
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.4(ATM):c.3866del (p.Lys1289fs)
NM_000051.4(ATM):c.3868A>C (p.Ile1290Leu)
NM_000051.4(ATM):c.3868A>T (p.Ile1290Phe) rs2082381917
NM_000051.4(ATM):c.3868_3884del (p.Ile1290fs) rs2082382004
NM_000051.4(ATM):c.3869T>G (p.Ile1290Ser)
NM_000051.4(ATM):c.386A>G (p.Lys129Arg) rs2135122598
NM_000051.4(ATM):c.3871C>G (p.Leu1291Val) rs2135707210
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3872T>G (p.Leu1291Arg) rs1555093536
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu) rs878853506
NM_000051.4(ATM):c.3877A>C (p.Asn1293His) rs2135707323
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser) rs2082382534
NM_000051.4(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup) rs1591645970
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val) rs1478504213
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3882T>C (p.Ile1294=) rs1167387894
NM_000051.4(ATM):c.3883C>G (p.Leu1295Val) rs1388457632
NM_000051.4(ATM):c.3884T>C (p.Leu1295Pro) rs2082382999
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3888T>C (p.Pro1296=) rs1555093582
NM_000051.4(ATM):c.3890A>G (p.Tyr1297Cys) rs1591646047
NM_000051.4(ATM):c.3891T>A (p.Tyr1297Ter)
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=) rs2135707669
NM_000051.4(ATM):c.3891T>G (p.Tyr1297Ter)
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3895del (p.Ala1299fs) rs786203501
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val) rs786203287
NM_000051.4(ATM):c.3897C>A (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>G (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3898T>A (p.Tyr1300Asn)
NM_000051.4(ATM):c.3898T>C (p.Tyr1300His) rs1591646097
NM_000051.4(ATM):c.3899A>T (p.Tyr1300Phe) rs183263185
NM_000051.4(ATM):c.38G>T (p.Arg13Leu) rs778201041
NM_000051.4(ATM):c.3900T>G (p.Tyr1300Ter)
NM_000051.4(ATM):c.3903G>C (p.Glu1301Asp) rs2082384273
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser) rs2135707999
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val) rs761673223
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.4(ATM):c.3908C>A (p.Thr1303Asn)
NM_000051.4(ATM):c.3909C>T (p.Thr1303=) rs1555093618
NM_000051.4(ATM):c.390T>A (p.Asp130Glu) rs1565356801
NM_000051.4(ATM):c.390T>G (p.Asp130Glu) rs1565356801
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly) rs1565447611
NM_000051.4(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs) rs2135708324
NM_000051.4(ATM):c.3917G>A (p.Ser1306Asn)
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.391dup (p.Ser131fs) rs2079239543
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu) rs2082385270
NM_000051.4(ATM):c.3923T>C (p.Met1308Thr) rs1555093651
NM_000051.4(ATM):c.3925G>C (p.Ala1309Pro) rs149711770
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.3929A>G (p.Gln1310Arg)
NM_000051.4(ATM):c.392C>A (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.392C>T (p.Ser131Leu)
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro) rs2135708785
NM_000051.4(ATM):c.3932A>G (p.Gln1311Arg)
NM_000051.4(ATM):c.3933A>G (p.Gln1311=) rs1060504304
NM_000051.4(ATM):c.3933_3934del (p.Glu1313fs) rs2082385904
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly) rs1555093695
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile) rs751678973
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser) rs1064794757
NM_000051.4(ATM):c.3945T>A (p.Ala1315=) rs2135709163
NM_000051.4(ATM):c.3946A>G (p.Thr1316Ala) rs1555093708
NM_000051.4(ATM):c.3947C>T (p.Thr1316Ile) rs2135709186
NM_000051.4(ATM):c.3948C>T (p.Thr1316=) rs2135709208
NM_000051.4(ATM):c.3949A>C (p.Lys1317Gln) rs2082387020
NM_000051.4(ATM):c.394T>C (p.Ser132Pro) rs786203851
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3954C>T (p.Val1318=)
NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer) rs1591646379
NM_000051.4(ATM):c.3958_3960del (p.Asp1320del)
NM_000051.4(ATM):c.3959A>G (p.Asp1320Gly)
NM_000051.4(ATM):c.3959A>T (p.Asp1320Val) rs2135709499
NM_000051.4(ATM):c.395C>A (p.Ser132Tyr) rs750969764
NM_000051.4(ATM):c.395C>G (p.Ser132Cys) rs750969764
NM_000051.4(ATM):c.3960T>C (p.Asp1320=) rs995275833
NM_000051.4(ATM):c.3961A>G (p.Met1321Val) rs730881366
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr) rs928038643
NM_000051.4(ATM):c.3963G>T (p.Met1321Ile) rs35184530
NM_000051.4(ATM):c.3963_3964delinsAA (p.Met1321_Leu1322delinsIleIle)
NM_000051.4(ATM):c.3964C>G (p.Leu1322Val)
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe) rs144535256
NM_000051.4(ATM):c.3964dup (p.Leu1322fs) rs2135709622
NM_000051.4(ATM):c.3965T>A (p.Leu1322His) rs786203306
NM_000051.4(ATM):c.3965T>G (p.Leu1322Arg) rs786203306
NM_000051.4(ATM):c.3968A>G (p.Lys1323Arg) rs1295515377
NM_000051.4(ATM):c.3970A>C (p.Ser1324Arg) rs2082388757
NM_000051.4(ATM):c.3971G>A (p.Ser1324Asn)
NM_000051.4(ATM):c.3972T>C (p.Ser1324=)
NM_000051.4(ATM):c.3976A>G (p.Asn1326Asp)
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser) rs878853507
NM_000051.4(ATM):c.3979T>C (p.Leu1327=) rs2135709876
NM_000051.4(ATM):c.397A>G (p.Asn133Asp) rs1565356855
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3981A>G (p.Leu1327=)
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3984G>A (p.Leu1328=) rs1591646593
NM_000051.4(ATM):c.3984G>C (p.Leu1328Phe)
NM_000051.4(ATM):c.3987_3993+1del rs2135710049
NM_000051.4(ATM):c.3989A>G (p.Lys1330Arg) rs1565447970
NM_000051.4(ATM):c.398A>G (p.Asn133Ser) rs730881330
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter) rs2082389962
NM_000051.4(ATM):c.3993+12A>G rs1057520703
NM_000051.4(ATM):c.3993+12A>T
NM_000051.4(ATM):c.3993+16T>G rs2135710569
NM_000051.4(ATM):c.3993+19T>C
NM_000051.4(ATM):c.3993+19T>G
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3993+20G>A
NM_000051.4(ATM):c.3993+2T>C rs2135710273
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3993+5G>A rs3092842
NM_000051.4(ATM):c.3993+6G>A rs878853508
NM_000051.4(ATM):c.3993+6G>C
NM_000051.4(ATM):c.3993+6G>T rs878853508
NM_000051.4(ATM):c.3993+9T>C rs2135710402
NM_000051.4(ATM):c.3993G>A (p.Gln1331=) rs863224566
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.3994-10G>C rs186589241
NM_000051.4(ATM):c.3994-11T>G
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>A rs1057520398
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-14T>A
NM_000051.4(ATM):c.3994-14T>G rs1255634399
NM_000051.4(ATM):c.3994-15T>A rs2135734597
NM_000051.4(ATM):c.3994-16T>A
NM_000051.4(ATM):c.3994-18A>T
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-3C>A rs1060501681
NM_000051.4(ATM):c.3994-4G>C rs1060504259
NM_000051.4(ATM):c.3994-8C>T rs2135734775
NM_000051.4(ATM):c.3994-9C>A rs767111803
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu) rs1064793534
NM_000051.4(ATM):c.3996T>C (p.Ile1332=) rs1180449859
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met) rs1180449859
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn) rs1591655512
NM_000051.4(ATM):c.3998A>G (p.Asp1333Gly)
NM_000051.4(ATM):c.3999T>C (p.Asp1333=) rs1591655534
NM_000051.4(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.4(ATM):c.399T>C (p.Asn133=)
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)
NM_000051.4(ATM):c.4000_4006del (p.His1334fs) rs2135735093
NM_000051.4(ATM):c.4002C>T (p.His1334=) rs876659622
NM_000051.4(ATM):c.4003T>G (p.Leu1335Val) rs863224568
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter) rs2082558148
NM_000051.4(ATM):c.4004dup (p.Leu1335fs)
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4007dup (p.Ile1337fs) rs1555095841
NM_000051.4(ATM):c.4010T>C (p.Ile1337Thr) rs1060501660
NM_000051.4(ATM):c.4010T>G (p.Ile1337Ser) rs1060501660
NM_000051.4(ATM):c.4011del (p.Ser1338fs) rs1591655633
NM_000051.4(ATM):c.4013G>A (p.Ser1338Asn) rs1302951937
NM_000051.4(ATM):c.4017T>G (p.Asn1339Lys) rs863224569
NM_000051.4(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) rs2082559544
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.401G>T (p.Gly134Val) rs771166271
NM_000051.4(ATM):c.4020A>C (p.Leu1340Phe)
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4023del (p.Glu1342fs)
NM_000051.4(ATM):c.4028_4034del (p.Ile1343fs) rs2135735834
NM_000051.4(ATM):c.4029T>C (p.Ile1343=) rs2135735847
NM_000051.4(ATM):c.402T>C (p.Gly134=)
NM_000051.4(ATM):c.402T>G (p.Gly134=) rs2135123141
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu) rs1565452575
NM_000051.4(ATM):c.4032G>A (p.Val1344=) rs769871715
NM_000051.4(ATM):c.4033G>A (p.Val1345Met) rs1216931701
NM_000051.4(ATM):c.4034T>C (p.Val1345Ala)
NM_000051.4(ATM):c.4035G>A (p.Val1345=) rs2135735989
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.4(ATM):c.4038G>A (p.Glu1346=) rs1591655790
NM_000051.4(ATM):c.4038G>T (p.Glu1346Asp)
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.403G>T (p.Ala135Ser) rs1272089657
NM_000051.4(ATM):c.403del (p.Ala135fs) rs2135123204
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.4(ATM):c.4045A>G (p.Met1349Val) rs2082561329
NM_000051.4(ATM):c.4046T>A (p.Met1349Lys) rs2082561438
NM_000051.4(ATM):c.4047G>A (p.Met1349Ile) rs1555095931
NM_000051.4(ATM):c.4047G>T (p.Met1349Ile) rs1555095931
NM_000051.4(ATM):c.404C>G (p.Ala135Gly) rs1555059254
NM_000051.4(ATM):c.404C>T (p.Ala135Val) rs1555059254
NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter) rs1565452687
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4053A>G (p.Leu1351=) rs1565452695
NM_000051.4(ATM):c.4054C>T (p.His1352Tyr) rs1591655903
NM_000051.4(ATM):c.4055A>T (p.His1352Leu) rs925124248
NM_000051.4(ATM):c.4056_4065del (p.His1352fs) rs1555095955
NM_000051.4(ATM):c.4057G>A (p.Glu1353Lys) rs2135736601
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.4(ATM):c.405T>G (p.Ala135=) rs2135123254
NM_000051.4(ATM):c.4060C>T (p.Pro1354Ser)
NM_000051.4(ATM):c.4061C>A (p.Pro1354Gln) rs1565452743
NM_000051.4(ATM):c.4062A>C (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.4062A>T (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.4062del (p.Ala1355fs) rs2135736779
NM_000051.4(ATM):c.4064C>A (p.Ala1355Glu) rs1591655990
NM_000051.4(ATM):c.4064C>G (p.Ala1355Gly)
NM_000051.4(ATM):c.4064C>T (p.Ala1355Val) rs1591655990
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr) rs2135736874
NM_000051.4(ATM):c.4069T>A (p.Ser1357Thr) rs2082563881
NM_000051.4(ATM):c.406A>G (p.Ile136Val) rs780941782
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr) rs730881390
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4072A>T (p.Ser1358Cys)
NM_000051.4(ATM):c.4073G>C (p.Ser1358Thr) rs2135737014
NM_000051.4(ATM):c.4075G>A (p.Ala1359Thr) rs1591656042
NM_000051.4(ATM):c.4076C>A (p.Ala1359Asp) rs1565452823
NM_000051.4(ATM):c.4077C>G (p.Ala1359=) rs375606854
NM_000051.4(ATM):c.4078A>G (p.Ser1360Gly) rs761123780
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys) rs761123780
NM_000051.4(ATM):c.4080T>G (p.Ser1360Arg) rs2135737207
NM_000051.4(ATM):c.4080_4083del (p.Ser1360fs)
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.4(ATM):c.4083G>A (p.Gln1361=) rs863224570
NM_000051.4(ATM):c.4083G>T (p.Gln1361His) rs863224570
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly) rs1565452907
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.4(ATM):c.4087del (p.Thr1363fs) rs1555096035
NM_000051.4(ATM):c.4088C>G (p.Thr1363Ser) rs1555096040
NM_000051.4(ATM):c.408T>A (p.Ile136=) rs2135123307
NM_000051.4(ATM):c.4091A>C (p.Asp1364Ala) rs751169467
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu) rs876660956
NM_000051.4(ATM):c.4092C>T (p.Asp1364=) rs876660956
NM_000051.4(ATM):c.4093C>A (p.Leu1365Ile)
NM_000051.4(ATM):c.4093C>T (p.Leu1365Phe) rs1423720712
NM_000051.4(ATM):c.4093del (p.Leu1365fs) rs2135737651
NM_000051.4(ATM):c.4094T>C (p.Leu1365Pro)
NM_000051.4(ATM):c.4095C>G (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4095C>T (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.409T>G (p.Tyr137Asp) rs786204177
NM_000051.4(ATM):c.40C>T (p.Gln14Ter)
NM_000051.4(ATM):c.4100A>G (p.Asp1367Gly)
NM_000051.4(ATM):c.4101C>G (p.Asp1367Glu)
NM_000051.4(ATM):c.4101del (p.Ser1369fs) rs1565453029
NM_000051.4(ATM):c.4104T>A (p.Phe1368Leu) rs569614591
NM_000051.4(ATM):c.4104T>C (p.Phe1368=) rs569614591
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4105del (p.Ser1369fs)
NM_000051.4(ATM):c.4107A>G (p.Ser1369=) rs2135738048
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
NM_000051.4(ATM):c.4109+11T>G rs749158400
NM_000051.4(ATM):c.4109+13T>C rs2082569194
NM_000051.4(ATM):c.4109+14_4109+15insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGCGTACATTTTA rs2135738255
NM_000051.4(ATM):c.4109+16A>G rs2135738603
NM_000051.4(ATM):c.4109+17C>G
NM_000051.4(ATM):c.4109+19T>C
NM_000051.4(ATM):c.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4109+20dup
NM_000051.4(ATM):c.4109+3A>G rs1388807238
NM_000051.4(ATM):c.4109+4T>G rs754706599
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4109+6T>G rs368606937
NM_000051.4(ATM):c.4109+7A>G rs2135738309
NM_000051.4(ATM):c.4109+8C>A rs1591656404
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4109+9A>G rs730881289
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe) rs547082881
NM_000051.4(ATM):c.4110-10A>G rs2082636753
NM_000051.4(ATM):c.4110-11A>G
NM_000051.4(ATM):c.4110-11A>T rs760715107
NM_000051.4(ATM):c.4110-12T>C rs2135749934
NM_000051.4(ATM):c.4110-14C>T
NM_000051.4(ATM):c.4110-16C>A rs2135749803
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4110-1G>C rs1060501692
NM_000051.4(ATM):c.4110-2A>G rs2135750262
NM_000051.4(ATM):c.4110-3T>C
NM_000051.4(ATM):c.4110-4T>G rs777186156
NM_000051.4(ATM):c.4110-5G>C
NM_000051.4(ATM):c.4110-6T>C rs1060504277
NM_000051.4(ATM):c.4110-8T>C rs2135750082
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4110-9C>T rs730881367
NM_000051.4(ATM):c.4110G>C (p.Gly1370=) rs2082638172
NM_000051.4(ATM):c.4111G>T (p.Asp1371Tyr)
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4112A>G (p.Asp1371Gly)
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val) rs762242838
NM_000051.4(ATM):c.4115del (p.Leu1372fs) rs2082638431
NM_000051.4(ATM):c.4117G>T (p.Asp1373Tyr)
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr) rs2135750720
NM_000051.4(ATM):c.4125T>A (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4125T>C (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4125del (p.Pro1376fs)
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala) rs863224571
NM_000051.4(ATM):c.4126C>T (p.Pro1376Ser)
NM_000051.4(ATM):c.4127C>G (p.Pro1376Arg) rs786202406
NM_000051.4(ATM):c.4128T>G (p.Pro1376=) rs2135750893
NM_000051.4(ATM):c.4129A>C (p.Asn1377His) rs2082639157
NM_000051.4(ATM):c.4129A>T (p.Asn1377Tyr) rs2082639157
NM_000051.4(ATM):c.412G>C (p.Gly138Arg) rs150661813
NM_000051.4(ATM):c.4130A>C (p.Asn1377Thr) rs1565454896
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.4(ATM):c.4131T>C (p.Asn1377=) rs2082639582
NM_000051.4(ATM):c.4132C>A (p.Pro1378Thr) rs1555096817
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala) rs1555096817
NM_000051.4(ATM):c.4133del (p.Pro1378fs) rs2135751048
NM_000051.4(ATM):c.4134A>G (p.Pro1378=) rs1591660328
NM_000051.4(ATM):c.4135C>A (p.Pro1379Thr) rs1555096828
NM_000051.4(ATM):c.4136C>T (p.Pro1379Leu)
NM_000051.4(ATM):c.4139A>G (p.His1380Arg) rs2082640431
NM_000051.4(ATM):c.413G>C (p.Gly138Ala) rs2135123439
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu) rs1555096841
NM_000051.4(ATM):c.4142T>C (p.Phe1381Ser)
NM_000051.4(ATM):c.4143T>G (p.Phe1381Leu) rs2082640762
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4149G>T (p.Ser1383=) rs749180334
NM_000051.4(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr) rs876660576
NM_000051.4(ATM):c.4151A>C (p.His1384Pro) rs757172522
NM_000051.4(ATM):c.4152T>C (p.His1384=) rs1555096888
NM_000051.4(ATM):c.4155G>A (p.Val1385=) rs2082641997
NM_000051.4(ATM):c.4158T>G (p.Ile1386Met) rs879254026
NM_000051.4(ATM):c.4158_4175delinsC (p.Lys1387fs) rs2082642299
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
NM_000051.4(ATM):c.415G>T (p.Ala139Ser) rs1555059288
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr) rs1555096903
NM_000051.4(ATM):c.4162G>C (p.Ala1388Pro) rs1555096903
NM_000051.4(ATM):c.4162G>T (p.Ala1388Ser) rs1555096903
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly) rs1555096908
NM_000051.4(ATM):c.4165A>G (p.Thr1389Ala) rs1591660534
NM_000051.4(ATM):c.4166C>T (p.Thr1389Ile) rs2082642834
NM_000051.4(ATM):c.4166_4210del (p.Thr1389_Ser1403del) rs2135752050
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr) rs2135752151
NM_000051.4(ATM):c.4172C>A (p.Ala1391Asp) rs1591660560
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val) rs1591660560
NM_000051.4(ATM):c.4173C>G (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4173C>T (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4173del (p.Tyr1392fs)
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys) rs876658239
NM_000051.4(ATM):c.4175A>T (p.Tyr1392Phe) rs876658239
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu) rs1565455097
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4179C>T (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.4(ATM):c.4185T>C (p.Asn1395=) rs2135752553
NM_000051.4(ATM):c.4188T>C (p.Cys1396=) rs1565455129
NM_000051.4(ATM):c.4188_4189del (p.Cys1396_His1397delinsTer) rs2135752682
NM_000051.4(ATM):c.4189dup (p.His1397fs) rs2082644891
NM_000051.4(ATM):c.418G>C (p.Asp140His) rs55633650
NM_000051.4(ATM):c.4192A>G (p.Lys1398Glu)
NM_000051.4(ATM):c.4194A>T (p.Lys1398Asn) rs1565455145
NM_000051.4(ATM):c.4195A>G (p.Thr1399Ala) rs1555096955
NM_000051.4(ATM):c.4195A>T (p.Thr1399Ser) rs1555096955
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4196C>T (p.Thr1399Ile) rs786203761
NM_000051.4(ATM):c.4197C>T (p.Thr1399=) rs2135752951
NM_000051.4(ATM):c.41A>G (p.Gln14Arg) rs749776879
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter) rs1555096975
NM_000051.4(ATM):c.4204A>C (p.Lys1402Gln)
NM_000051.4(ATM):c.4206A>C (p.Lys1402Asn) rs2135753163
NM_000051.4(ATM):c.4206A>G (p.Lys1402=)
NM_000051.4(ATM):c.4208G>C (p.Ser1403Thr)
NM_000051.4(ATM):c.4209C>A (p.Ser1403Arg) rs876658701
NM_000051.4(ATM):c.4209C>T (p.Ser1403=) rs876658701
NM_000051.4(ATM):c.420T>A (p.Asp140Glu) rs1591475108
NM_000051.4(ATM):c.420T>C (p.Asp140=) rs1591475108
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer) rs2082646632
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val) rs1382006540
NM_000051.4(ATM):c.421T>C (p.Cys141Arg)
NM_000051.4(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.4(ATM):c.4222_4236+5del rs2135753552
NM_000051.4(ATM):c.4225del (p.Ser1409fs) rs2082647388
NM_000051.4(ATM):c.4227C>G (p.Ser1409=) rs1555097018
NM_000051.4(ATM):c.4227C>T (p.Ser1409=) rs1555097018
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg) rs2082647905
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr) rs745890227
NM_000051.4(ATM):c.422dup (p.Cys141fs) rs2079242252
NM_000051.4(ATM):c.4231del (p.Ser1411fs)
NM_000051.4(ATM):c.4232G>C (p.Ser1411Thr) rs2135753735
NM_000051.4(ATM):c.4234C>T (p.Pro1412Ser) rs1591660899
NM_000051.4(ATM):c.4236+10C>T rs2135754219
NM_000051.4(ATM):c.4236+13G>C rs2135754357
NM_000051.4(ATM):c.4236+15_4236+17del rs1064794349
NM_000051.4(ATM):c.4236+16G>A rs2135754395
NM_000051.4(ATM):c.4236+17A>T
NM_000051.4(ATM):c.4236+18G>A
NM_000051.4(ATM):c.4236+19T>G rs2082650329
NM_000051.4(ATM):c.4236+1G>A
NM_000051.4(ATM):c.4236+1G>C
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4236+1_4236+2del rs2135753954
NM_000051.4(ATM):c.4236+1del rs2135753984
NM_000051.4(ATM):c.4236+2T>A rs1229926683
NM_000051.4(ATM):c.4236+2_4236+3insCT rs1185729358
NM_000051.4(ATM):c.4236+5G>A rs1441281768
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4236+9A>G rs1591661022
NM_000051.4(ATM):c.4236+9dup rs2135754201
NM_000051.4(ATM):c.4236T>G (p.Pro1412=) rs1326629661
NM_000051.4(ATM):c.4236del (p.Asp1413fs) rs1565455297
NM_000051.4(ATM):c.4237-10T>C rs1312684854
NM_000051.4(ATM):c.4237-12T>C
NM_000051.4(ATM):c.4237-13G>T
NM_000051.4(ATM):c.4237-13_4237-10del
NM_000051.4(ATM):c.4237-13_4237-12del rs1555097353
NM_000051.4(ATM):c.4237-14T>G
NM_000051.4(ATM):c.4237-16T>A
NM_000051.4(ATM):c.4237-16T>C
NM_000051.4(ATM):c.4237-18A>C rs756842639
NM_000051.4(ATM):c.4237-18_4237-17del
NM_000051.4(ATM):c.4237-19A>C rs753311330
NM_000051.4(ATM):c.4237-19A>G rs753311330
NM_000051.4(ATM):c.4237-20T>C rs2135758679
NM_000051.4(ATM):c.4237-20T>G
NM_000051.4(ATM):c.4237-2A>G rs1591662492
NM_000051.4(ATM):c.4237-7T>C rs1439775115
NM_000051.4(ATM):c.4237-7_4237-5del
NM_000051.4(ATM):c.4237-8T>A
NM_000051.4(ATM):c.4237-8T>G rs750427647
NM_000051.4(ATM):c.4237-9_4237-7del rs1555097355
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr) rs1337392659
NM_000051.4(ATM):c.4238A>T (p.Asp1413Val)
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.4240T>C (p.Ser1414Pro)
NM_000051.4(ATM):c.4242C>T (p.Ser1414=) rs2135759239
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.4(ATM):c.4248G>A (p.Gln1416=) rs1233637041
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606
NM_000051.4(ATM):c.4255C>A (p.Leu1419Ile)
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del) rs876659842
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)
NM_000051.4(ATM):c.4258C>G (p.Leu1420Val)
NM_000051.4(ATM):c.4260T>C (p.Leu1420=) rs2135759675
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr) rs1555097395
NM_000051.4(ATM):c.4262C>T (p.Ala1421Val)
NM_000051.4(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val) rs562445932
NM_000051.4(ATM):c.4264A>T (p.Ile1422Leu) rs562445932
NM_000051.4(ATM):c.4265T>A (p.Ile1422Lys)
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.4(ATM):c.4266A>G (p.Ile1422Met) rs768794637
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser) rs587782442
NM_000051.4(ATM):c.4270G>T (p.Glu1424Ter)
NM_000051.4(ATM):c.4274A>G (p.Gln1425Arg) rs2082671727
NM_000051.4(ATM):c.4278A>G (p.Ala1426=) rs2135760176
NM_000051.4(ATM):c.4279G>C (p.Ala1427Pro)
NM_000051.4(ATM):c.4279G>T (p.Ala1427Ser)
NM_000051.4(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.4(ATM):c.4280del (p.Ala1427fs) rs1591662758
NM_000051.4(ATM):c.4281T>C (p.Ala1427=) rs876659745
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys) rs1369272813
NM_000051.4(ATM):c.4282del (p.Glu1428fs) rs2082672268
NM_000051.4(ATM):c.4287A>G (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.428A>G (p.Asn143Ser) rs1565357066
NM_000051.4(ATM):c.4290T>C (p.Asn1430=) rs1431970078
NM_000051.4(ATM):c.4291A>C (p.Asn1431His) rs748144169
NM_000051.4(ATM):c.4292A>G (p.Asn1431Ser) rs201356803
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)
NM_000051.4(ATM):c.4294G>A (p.Val1432Ile)
NM_000051.4(ATM):c.4295T>G (p.Val1432Gly) rs1131691150
NM_000051.4(ATM):c.4297T>G (p.Tyr1433Asp) rs876659559
NM_000051.4(ATM):c.4298A>G (p.Tyr1433Cys)
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.429C>T (p.Asn143=) rs1416280463
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
NM_000051.4(ATM):c.4302G>A (p.Lys1434=) rs876658751
NM_000051.4(ATM):c.4302G>C (p.Lys1434Asn) rs876658751
NM_000051.4(ATM):c.4303A>C (p.Lys1435Gln) rs876660964
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.4(ATM):c.4303_4304insTT (p.Lys1435fs) rs2082673829
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.4(ATM):c.4308C>T (p.His1436=) rs1591662977
NM_000051.4(ATM):c.430A>G (p.Ile144Val) rs1555059323
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys) rs1227046364
NM_000051.4(ATM):c.4310G>C (p.Arg1437Thr)
NM_000051.4(ATM):c.4311A>G (p.Arg1437=) rs1555097507
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
NM_000051.4(ATM):c.4316T>A (p.Leu1439His) rs1591663032
NM_000051.4(ATM):c.4316T>C (p.Leu1439Pro) rs1591663032
NM_000051.4(ATM):c.4317T>G (p.Leu1439=) rs2135761736
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.431T>G (p.Ile144Arg) rs2135124131
NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn) rs2082675235
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr) rs1469317936
NM_000051.4(ATM):c.4322T>G (p.Ile1441Arg)
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.4(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys) rs1565456320
NM_000051.4(ATM):c.4325A>T (p.Tyr1442Phe)
NM_000051.4(ATM):c.4325dup (p.Tyr1442Ter) rs2135762072
NM_000051.4(ATM):c.4326T>A (p.Tyr1442Ter)
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr) rs1555097538
NM_000051.4(ATM):c.4328A>C (p.His1443Pro)
NM_000051.4(ATM):c.4329C>T (p.His1443=)
NM_000051.4(ATM):c.432A>T (p.Ile144=)
NM_000051.4(ATM):c.432ACT[3] (p.Leu146dup) rs2135124161
NM_000051.4(ATM):c.432del (p.Leu145fs) rs1555059333
NM_000051.4(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.4(ATM):c.4330C>G (p.Leu1444Val)
NM_000051.4(ATM):c.4330C>T (p.Leu1444=) rs2135762205
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer) rs1064792938
NM_000051.4(ATM):c.4331T>A (p.Leu1444Gln) rs2082676298
NM_000051.4(ATM):c.4331T>C (p.Leu1444Pro)
NM_000051.4(ATM):c.4331_4332insTTT (p.Leu1444dup) rs1060501663
NM_000051.4(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.4(ATM):c.4332del (p.Phe1445fs) rs2135762420
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.4(ATM):c.4334T>C (p.Phe1445Ser)
NM_000051.4(ATM):c.4335T>C (p.Phe1445=) rs761225071
NM_000051.4(ATM):c.4335T>G (p.Phe1445Leu)
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs) rs2135762355
NM_000051.4(ATM):c.4336G>A (p.Val1446Ile) rs1060501658
NM_000051.4(ATM):c.4336G>T (p.Val1446Phe) rs1060501658
NM_000051.4(ATM):c.4337T>A (p.Val1446Asp) rs1591663249
NM_000051.4(ATM):c.4338T>A (p.Val1446=) rs2135762761
NM_000051.4(ATM):c.4339A>C (p.Ser1447Arg)
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg) rs1565456454
NM_000051.4(ATM):c.4342TTA[3] (p.Leu1450_Lys1451insLeu)
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs) rs1565456465
NM_000051.4(ATM):c.4344dup (p.Leu1449fs) rs1555097604
NM_000051.4(ATM):c.4345T>G (p.Leu1449Val) rs786201555
NM_000051.4(ATM):c.4346T>C (p.Leu1449Ser) rs2082678060
NM_000051.4(ATM):c.4347A>C (p.Leu1449Phe) rs764787081
NM_000051.4(ATM):c.4347A>G (p.Leu1449=)
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro) rs750306932
NM_000051.4(ATM):c.434T>A (p.Leu145Gln) rs1555059346
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.4(ATM):c.434_444del (p.Leu145fs)
NM_000051.4(ATM):c.4350G>A (p.Leu1450=) rs1565456541
NM_000051.4(ATM):c.4354G>A (p.Asp1452Asn)
NM_000051.4(ATM):c.4354G>C (p.Asp1452His) rs1012695949
NM_000051.4(ATM):c.4354G>T (p.Asp1452Tyr) rs1012695949
NM_000051.4(ATM):c.4355A>T (p.Asp1452Val) rs1565456579
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4359A>G (p.Ile1453Met) rs1213190389
NM_000051.4(ATM):c.435A>C (p.Leu145=) rs775476710
NM_000051.4(ATM):c.435A>G (p.Leu145=) rs775476710
NM_000051.4(ATM):c.4360A>G (p.Lys1454Glu)
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.4(ATM):c.4362A>G (p.Lys1454=) rs148993589
NM_000051.4(ATM):c.4363A>C (p.Ser1455Arg) rs2135763861
NM_000051.4(ATM):c.4363del (p.Ser1455fs) rs1591663478
NM_000051.4(ATM):c.4364G>C (p.Ser1455Thr) rs2082679943
NM_000051.4(ATM):c.4365T>C (p.Ser1455=)
NM_000051.4(ATM):c.4366G>A (p.Gly1456Ser) rs1591663544
NM_000051.4(ATM):c.4367G>A (p.Gly1456Asp) rs894398811
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)
NM_000051.4(ATM):c.436C>T (p.Leu146Phe) rs2135124363
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4371A>G (p.Leu1457=)
NM_000051.4(ATM):c.4372G>A (p.Gly1458Arg) rs2135764207
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser) rs1060501675
NM_000051.4(ATM):c.4379C>G (p.Ala1460Gly) rs376165779
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.4(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn) rs1555059356
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.4(ATM):c.4386C>A (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4386C>G (p.Ala1462=)
NM_000051.4(ATM):c.4386C>T (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4387T>C (p.Phe1463Leu)
NM_000051.4(ATM):c.4389T>C (p.Phe1463=) rs1555097753
NM_000051.4(ATM):c.438C>G (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.438C>T (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.4391T>A (p.Val1464Asp) rs2082682300
NM_000051.4(ATM):c.4391T>C (p.Val1464Ala) rs2082682300
NM_000051.4(ATM):c.4391TTC[1] (p.Leu1465del) rs2082682405
NM_000051.4(ATM):c.4394T>A (p.Leu1465His) rs730881391
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4396C>A (p.Arg1466=) rs730881369
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro) rs749770110
NM_000051.4(ATM):c.4397G>T (p.Arg1466Leu)
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4398A>T (p.Arg1466=) rs142728382
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.4400_4405dup (p.Val1468_Ile1469insAsnVal) rs2082683548
NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs) rs1591663850
NM_000051.4(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.4(ATM):c.4408T>G (p.Tyr1470Asp)
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys) rs1591663898
NM_000051.4(ATM):c.440_443dup (p.Asp148fs)
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4413T>G (p.Thr1471=) rs2135766153
NM_000051.4(ATM):c.4413_4431del (p.Leu1472fs)
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter) rs772555314
NM_000051.4(ATM):c.4415T>C (p.Leu1472Ser) rs772555314
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.4(ATM):c.4416G>T (p.Leu1472Phe)
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met) rs2082685196
NM_000051.4(ATM):c.441A>G (p.Lys147=) rs1555059372
NM_000051.4(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.4(ATM):c.4420C>A (p.His1474Asn) rs587779840
NM_000051.4(ATM):c.4421A>G (p.His1474Arg) rs2082685461
NM_000051.4(ATM):c.4422C>G (p.His1474Gln)
NM_000051.4(ATM):c.4422C>T (p.His1474=) rs1555097849
NM_000051.4(ATM):c.4425T>C (p.Tyr1475=) rs2135766671
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val) rs1565457035
NM_000051.4(ATM):c.4426_4436+14del
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met) rs876659370
NM_000051.4(ATM):c.442G>C (p.Asp148His) rs2135124628
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)
NM_000051.4(ATM):c.4430dup (p.Asn1477fs)
NM_000051.4(ATM):c.4431C>T (p.Asn1477=) rs571989748
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg) rs2082686442
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu) rs2082686442
NM_000051.4(ATM):c.4434A>G (p.Gln1478=) rs2082686560
NM_000051.4(ATM):c.4434A>T (p.Gln1478His) rs2082686560
NM_000051.4(ATM):c.4435A>G (p.Arg1479Gly) rs2082686702
NM_000051.4(ATM):c.4436+10A>T
NM_000051.4(ATM):c.4436+12A>G rs1057521715
NM_000051.4(ATM):c.4436+13T>C rs1555097905
NM_000051.4(ATM):c.4436+14T>G rs762832046
NM_000051.4(ATM):c.4436+15T>C
NM_000051.4(ATM):c.4436+16A>G
NM_000051.4(ATM):c.4436+17G>C
NM_000051.4(ATM):c.4436+18A>T rs1317954521
NM_000051.4(ATM):c.4436+19C>G rs539302674
NM_000051.4(ATM):c.4436+19C>T rs539302674
NM_000051.4(ATM):c.4436+1G>A rs1555097894
NM_000051.4(ATM):c.4436+1G>T rs1555097894
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4436+3A>G rs2082686950
NM_000051.4(ATM):c.4436+3A>T rs2082686950
NM_000051.4(ATM):c.4436+5A>G rs2082687178
NM_000051.4(ATM):c.4436+6T>C rs2082687309
NM_000051.4(ATM):c.4436+7A>G rs749971237
NM_000051.4(ATM):c.4436+9C>T rs1565457090
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys) rs2135767002
NM_000051.4(ATM):c.4437-10C>A rs1397770130
NM_000051.4(ATM):c.4437-10C>T rs1397770130
NM_000051.4(ATM):c.4437-13C>T rs769462032
NM_000051.4(ATM):c.4437-15T>G
NM_000051.4(ATM):c.4437-5A>G rs876658290
NM_000051.4(ATM):c.4437-7A>C rs370354306
NM_000051.4(ATM):c.4437-7dup rs1565460797
NM_000051.4(ATM):c.4437-8T>G rs765929660
NM_000051.4(ATM):c.4437G>A (p.Arg1479=) rs1591673584
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser) rs2082856332
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del) rs786202338
NM_000051.4(ATM):c.443A>G (p.Asp148Gly)
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro) rs2135797205
NM_000051.4(ATM):c.4443T>C (p.Ser1481=) rs2135797265
NM_000051.4(ATM):c.4443T>G (p.Ser1481=)
NM_000051.4(ATM):c.4445G>T (p.Cys1482Phe)
NM_000051.4(ATM):c.4445del (p.Cys1482fs)
NM_000051.4(ATM):c.4446T>C (p.Cys1482=)
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe) rs1281685502
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
NM_000051.4(ATM):c.444C>T (p.Asp148=)
NM_000051.4(ATM):c.444_450del (p.Ile149fs) rs2079244120
NM_000051.4(ATM):c.4450A>G (p.Met1484Val)
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu) rs2135797458
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs) rs1565460896
NM_000051.4(ATM):c.4451T>A (p.Met1484Lys)
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4452_4462del (p.Met1484fs)
NM_000051.4(ATM):c.4454A>C (p.Asp1485Ala) rs1555099762
NM_000051.4(ATM):c.4454A>G (p.Asp1485Gly) rs1555099762
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)
NM_000051.4(ATM):c.4456G>A (p.Val1486Met) rs786203352
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.4(ATM):c.4458G>A (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4458G>T (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4458_4459del (p.Ser1487fs) rs2135797740
NM_000051.4(ATM):c.445A>G (p.Ile149Val) rs1565357194
NM_000051.4(ATM):c.445A>T (p.Ile149Phe) rs1565357194
NM_000051.4(ATM):c.4461A>G (p.Ser1487=) rs2082859007
NM_000051.4(ATM):c.4461_4464del (p.Leu1488fs)
NM_000051.4(ATM):c.4462T>C (p.Leu1488=) rs1591673809
NM_000051.4(ATM):c.4466G>C (p.Arg1489Pro)
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu) rs201594549
NM_000051.4(ATM):c.4466_4467insAG (p.Ser1490fs) rs2135798107
NM_000051.4(ATM):c.4467del (p.Ser1490fs) rs2135798153
NM_000051.4(ATM):c.4469G>A (p.Ser1490Asn) rs2135798205
NM_000051.4(ATM):c.446T>A (p.Ile149Asn) rs587782353
NM_000051.4(ATM):c.4470C>T (p.Ser1490=) rs2135798259
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val) rs377595814
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser) rs1060501576
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.4(ATM):c.4483del (p.Cys1495fs) rs2135798648
NM_000051.4(ATM):c.4484G>T (p.Cys1495Phe) rs878853510
NM_000051.4(ATM):c.4485T>C (p.Cys1495=) rs2135798721
NM_000051.4(ATM):c.4487A>G (p.Asp1496Gly)
NM_000051.4(ATM):c.4488C>T (p.Asp1496=) rs772833802
NM_000051.4(ATM):c.4489T>C (p.Leu1497=)
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del) rs1555099818
NM_000051.4(ATM):c.448C>A (p.Leu150Ile)
NM_000051.4(ATM):c.448C>T (p.Leu150Phe) rs1555059404
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4491A>G (p.Leu1497=) rs878853511
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser) rs1329359780
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter) rs1329359780
NM_000051.4(ATM):c.4493_4494insSVAelement rs2082862502
NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCTGTTGTGACTTATT (p.Leu1498delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValArgTer)
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe) rs1064793476
NM_000051.4(ATM):c.4495A>C (p.Ser1499Arg) rs2135799018
NM_000051.4(ATM):c.4496G>C (p.Ser1499Thr) rs1222314846
NM_000051.4(ATM):c.4497_4519dup (p.Thr1507delinsIleArgPheAlaArgGlnProTer) rs2135799107
NM_000051.4(ATM):c.4499A>C (p.Gln1500Pro) rs786203789
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.4(ATM):c.449T>C (p.Leu150Pro) rs2079244605
NM_000051.4(ATM):c.44T>A (p.Leu15Gln) rs1555053927
NM_000051.4(ATM):c.44T>G (p.Leu15Arg) rs1555053927
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe) rs370574283
NM_000051.4(ATM):c.4503T>C (p.Val1501=) rs2082863480
NM_000051.4(ATM):c.4505G>A (p.Cys1502Tyr) rs759340881
NM_000051.4(ATM):c.4506C>T (p.Cys1502=) rs876659908
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg) rs1555099858
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile) rs1060501638
NM_000051.4(ATM):c.4515C>G (p.Ala1505=) rs540798997
NM_000051.4(ATM):c.4516G>A (p.Val1506Met) rs760542469
NM_000051.4(ATM):c.4516G>C (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4517T>A (p.Val1506Glu) rs1555099878
NM_000051.4(ATM):c.4517_4518insCTTACTTACTTAAGGATGCT (p.Val1506_Thr1507insLeuLeuThrTer) rs2135799845
NM_000051.4(ATM):c.4518G>C (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.4518G>T (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.451T>C (p.Ser151Pro) rs1565357241
NM_000051.4(ATM):c.451_452insSVAelement rs2079244988
NM_000051.4(ATM):c.4521T>C (p.Thr1507=)
NM_000051.4(ATM):c.4521T>G (p.Thr1507=) rs1555099885
NM_000051.4(ATM):c.4522dup (p.Tyr1508fs) rs1555099888
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter) rs2135800044
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter) rs1555099892
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=) rs1555099892
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg) rs1064795574
NM_000051.4(ATM):c.4526G>A (p.Cys1509Tyr) rs2082866294
NM_000051.4(ATM):c.452C>G (p.Ser151Cys) rs1565357249
NM_000051.4(ATM):c.452C>T (p.Ser151Phe) rs1565357249
NM_000051.4(ATM):c.4531G>A (p.Asp1511Asn) rs2135800277
NM_000051.4(ATM):c.4531G>C (p.Asp1511His) rs2135800277
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val) rs1591674356
NM_000051.4(ATM):c.4533T>A (p.Asp1511Glu)
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val) rs1591674385
NM_000051.4(ATM):c.4536T>C (p.Ala1512=) rs1555099909
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val) rs2082867393
NM_000051.4(ATM):c.4537C>T (p.Leu1513=) rs2082867393
NM_000051.4(ATM):c.4539A>G (p.Leu1513=)
NM_000051.4(ATM):c.453T>C (p.Ser151=) rs2135125035
NM_000051.4(ATM):c.4540G>A (p.Glu1514Lys)
NM_000051.4(ATM):c.4543A>G (p.Asn1515Asp)
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr) rs1565461414
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser) rs1565461414
NM_000051.4(ATM):c.4544dup (p.Asn1515fs) rs2082867555
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4546C>A (p.His1516Asn) rs1389372050
NM_000051.4(ATM):c.4547A>G (p.His1516Arg) rs1565461434
NM_000051.4(ATM):c.4547A>T (p.His1516Leu)
NM_000051.4(ATM):c.4551T>C (p.Leu1517=) rs1459998980
NM_000051.4(ATM):c.4552C>A (p.His1518Asn) rs2135800970
NM_000051.4(ATM):c.4552_4556del (p.His1518fs) rs2082868647
NM_000051.4(ATM):c.4553A>G (p.His1518Arg) rs762132832
NM_000051.4(ATM):c.4555G>A (p.Val1519Ile) rs969120822
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu) rs969120822
NM_000051.4(ATM):c.4555del (p.Val1519fs) rs2135801094
NM_000051.4(ATM):c.4557T>A (p.Val1519=) rs2135801173
NM_000051.4(ATM):c.4558A>C (p.Ile1520Leu) rs765195241
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)
NM_000051.4(ATM):c.4560T>C (p.Ile1520=) rs1057520925
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile) rs141329176
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala) rs786202673
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg) rs1064795495
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp) rs1555099954
NM_000051.4(ATM):c.4565G>T (p.Gly1522Val) rs1555099954
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile) rs1555099959
NM_000051.4(ATM):c.4569A>C (p.Thr1523=) rs1555099963
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile) rs780603110
NM_000051.4(ATM):c.4570C>G (p.Leu1524Val) rs780603110
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.4(ATM):c.4571T>A (p.Leu1524His) rs1555099971
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met) rs781539071
NM_000051.4(ATM):c.4575dup (p.Pro1526fs) rs2135801723
NM_000051.4(ATM):c.4576C>G (p.Pro1526Ala) rs748898098
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs) rs1591674707
NM_000051.4(ATM):c.4577C>T (p.Pro1526Leu) rs770590652
NM_000051.4(ATM):c.4577_4578delinsTT (p.Pro1526Leu) rs1591674732
NM_000051.4(ATM):c.4578C>A (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.4(ATM):c.4579C>T (p.Leu1527Phe) rs1555099997
NM_000051.4(ATM):c.4579del (p.Val1528fs) rs1565461674
NM_000051.4(ATM):c.457A>G (p.Arg153Gly) rs1555059438
NM_000051.4(ATM):c.4584G>A (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4584G>T (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4584_4585del (p.Val1528_Tyr1529insTer) rs2135802014
NM_000051.4(ATM):c.4585T>C (p.Tyr1529His)
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys) rs1365089723
NM_000051.4(ATM):c.4587T>A (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4589A>C (p.Glu1530Ala) rs2082872800
NM_000051.4(ATM):c.4590G>A (p.Glu1530=)
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4593G>A (p.Gln1531=) rs1591674814
NM_000051.4(ATM):c.4594G>A (p.Val1532Met) rs2135802444
NM_000051.4(ATM):c.4599G>A (p.Glu1533=) rs1274454004
NM_000051.4(ATM):c.459A>G (p.Arg153=) rs2135125274
NM_000051.4(ATM):c.4600G>T (p.Val1534Phe) rs745351684
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.4603C>T (p.Gln1535Ter) rs771549673
NM_000051.4(ATM):c.4605G>A (p.Gln1535=)
NM_000051.4(ATM):c.4605G>C (p.Gln1535His)
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter) rs1555100037
NM_000051.4(ATM):c.4610A>G (p.Gln1537Arg) rs1064794041
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu) rs1064794041
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
NM_000051.4(ATM):c.4611+10T>A
NM_000051.4(ATM):c.4611+11G>T rs2135803264
NM_000051.4(ATM):c.4611+12A>G rs1057520230
NM_000051.4(ATM):c.4611+12A>T
NM_000051.4(ATM):c.4611+14T>C
NM_000051.4(ATM):c.4611+14T>G rs1270804277
NM_000051.4(ATM):c.4611+15C>G
NM_000051.4(ATM):c.4611+15C>T
NM_000051.4(ATM):c.4611+16A>G rs2082875990
NM_000051.4(ATM):c.4611+17T>A
NM_000051.4(ATM):c.4611+17T>C rs768500911
NM_000051.4(ATM):c.4611+18C>G
NM_000051.4(ATM):c.4611+18C>T rs1057522843
NM_000051.4(ATM):c.4611+1G>A rs1565461840
NM_000051.4(ATM):c.4611+1G>T
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4611+3A>C rs2082874444
NM_000051.4(ATM):c.4611+3A>G rs2082874444
NM_000051.4(ATM):c.4611+4A>G rs1591674933
NM_000051.4(ATM):c.4611+6T>C rs1555100047
NM_000051.4(ATM):c.4611+8T>C rs1057522426
NM_000051.4(ATM):c.4611+8T>G rs1057522426
NM_000051.4(ATM):c.4611+8del
NM_000051.4(ATM):c.4611_4611+9del rs780969040
NM_000051.4(ATM):c.4612-10T>C rs2135809073
NM_000051.4(ATM):c.4612-11A>T rs1217349031
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-13A>T rs1267116629
NM_000051.4(ATM):c.4612-14T>C
NM_000051.4(ATM):c.4612-18T>C
NM_000051.4(ATM):c.4612-19C>A rs1336477936
NM_000051.4(ATM):c.4612-19C>T rs1336477936
NM_000051.4(ATM):c.4612-1G>A rs1555100351
NM_000051.4(ATM):c.4612-2A>C rs1555100347
NM_000051.4(ATM):c.4612-4T>A rs569983068
NM_000051.4(ATM):c.4612-5T>C
NM_000051.4(ATM):c.4612-6A>G rs2135809248
NM_000051.4(ATM):c.4612-8A>G rs1555100341
NM_000051.4(ATM):c.4612-9T>C
NM_000051.4(ATM):c.4612G>C (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn) rs778622948
NM_000051.4(ATM):c.4618G>C (p.Asp1540His) rs778622948
NM_000051.4(ATM):c.4620C>T (p.Asp1540=) rs1329153013
NM_000051.4(ATM):c.4621T>G (p.Leu1541Val)
NM_000051.4(ATM):c.4622del (p.Leu1541fs) rs2135809766
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe) rs3092849
NM_000051.4(ATM):c.4624T>C (p.Leu1542=) rs876658826
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4626_4632del (p.Leu1542fs) rs2135810015
NM_000051.4(ATM):c.462A>G (p.Lys154=) rs876659923
NM_000051.4(ATM):c.4632C>A (p.Tyr1544Ter)
NM_000051.4(ATM):c.4632C>T (p.Tyr1544=) rs2135810212
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4635A>G (p.Leu1545=) rs2135810263
NM_000051.4(ATM):c.4636G>A (p.Val1546Met) rs1305696123
NM_000051.4(ATM):c.4637_4642del (p.Val1546_Ile1547del) rs2135810241
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.4(ATM):c.4642_4643inv (p.Asp1548Ser)
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4643A>G (p.Asp1548Gly)
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val) rs1448017467
NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)
NM_000051.4(ATM):c.4647C>G (p.Asn1549Lys) rs1300874775
NM_000051.4(ATM):c.4647C>T (p.Asn1549=) rs1300874775
NM_000051.4(ATM):c.4649A>G (p.Lys1550Arg)
NM_000051.4(ATM):c.4650G>T (p.Lys1550Asn) rs876660003
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly) rs1555100455
NM_000051.4(ATM):c.4653T>A (p.Asp1551Glu)
NM_000051.4(ATM):c.4653_4672dup (p.Thr1558fs) rs2082915385
NM_000051.4(ATM):c.4655A>G (p.Asn1552Ser) rs2135810797
NM_000051.4(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.4(ATM):c.465C>G (p.Tyr155Ter)
NM_000051.4(ATM):c.465C>T (p.Tyr155=) rs2079245609
NM_000051.4(ATM):c.465_479del (p.Trp156_Ser160del) rs2079245695
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4663C>T (p.Leu1555Phe) rs1555100478
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro) rs1060501524
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4665C>G (p.Leu1555=) rs374431061
NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser) rs587782037
NM_000051.4(ATM):c.4667A>T (p.Tyr1556Phe)
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter) rs766438805
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.4(ATM):c.4669A>G (p.Ile1557Val) rs2135811264
NM_000051.4(ATM):c.4669del (p.Ile1557fs) rs1591677254
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn) rs2082917922
NM_000051.4(ATM):c.4671C>A (p.Ile1557=) rs966733287
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met) rs966733287
NM_000051.4(ATM):c.4673C>A (p.Thr1558Lys) rs587781712
NM_000051.4(ATM):c.4676T>G (p.Ile1559Ser)
NM_000051.4(ATM):c.4677T>C (p.Ile1559=) rs759660081
NM_000051.4(ATM):c.4678A>C (p.Lys1560Gln) rs767981230
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000051.4(ATM):c.4680G>A (p.Lys1560=) rs2135811674
NM_000051.4(ATM):c.4680G>C (p.Lys1560Asn) rs2135811674
NM_000051.4(ATM):c.4681C>G (p.Leu1561Val) rs1591677342
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe) rs1591677342
NM_000051.4(ATM):c.4682T>C (p.Leu1561Pro) rs2135811719
NM_000051.4(ATM):c.4683T>C (p.Leu1561=) rs2135811760
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.4(ATM):c.4685del (p.Leu1561_Leu1562insTer)
NM_000051.4(ATM):c.4687G>C (p.Asp1563His) rs1464587365
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.468del (p.Trp156fs) rs2079245902
NM_000051.4(ATM):c.4690C>A (p.Pro1564Thr) rs1490905322
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu) rs1064793971
NM_000051.4(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn) rs876659069
NM_000051.4(ATM):c.46G>T (p.Glu16Ter)
NM_000051.4(ATM):c.4701C>T (p.Asp1567=) rs1591677421
NM_000051.4(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.4(ATM):c.4705G>T (p.Val1569Phe)
NM_000051.4(ATM):c.4706T>C (p.Val1569Ala) rs1555100549
NM_000051.4(ATM):c.4707T>G (p.Val1569=) rs1591677478
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)
NM_000051.4(ATM):c.471T>C (p.Cys157=)
NM_000051.4(ATM):c.4720T>G (p.Leu1574Val)
NM_000051.4(ATM):c.4723C>A (p.Arg1575Ser) rs1408892416
NM_000051.4(ATM):c.4723C>G (p.Arg1575Gly) rs1408892416
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys) rs1408892416
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val) rs2082921955
NM_000051.4(ATM):c.4728T>C (p.Ile1576=)
NM_000051.4(ATM):c.4728del (p.Thr1577fs)
NM_000051.4(ATM):c.4729A>G (p.Thr1577Ala)
NM_000051.4(ATM):c.4730C>T (p.Thr1577Ile) rs2135812963
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4731T>G (p.Thr1577=)
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg) rs2082922811
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4736A>C (p.Gln1579Pro)
NM_000051.4(ATM):c.4738A>G (p.Lys1580Glu) rs1591677635
NM_000051.4(ATM):c.4740A>C (p.Lys1580Asn) rs2082923397
NM_000051.4(ATM):c.4740A>G (p.Lys1580=) rs2082923397
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val) rs1565463271
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
NM_000051.4(ATM):c.4741del (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met) rs1591677662
NM_000051.4(ATM):c.4746A>G (p.Lys1582=) rs1555100593
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=) rs1555100597
NM_000051.4(ATM):c.4750A>G (p.Ser1584Gly)
NM_000051.4(ATM):c.4751G>A (p.Ser1584Asn) rs1591677692
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile) rs1591677692
NM_000051.4(ATM):c.4752T>C (p.Ser1584=) rs1555100601
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly) rs781275128
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg) rs1565463314
NM_000051.4(ATM):c.4758A>T (p.Gly1586=) rs2135813614
NM_000051.4(ATM):c.4758_4759del (p.Pro1587fs)
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)
NM_000051.4(ATM):c.475A>C (p.Ile159Leu) rs1565357315
NM_000051.4(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.4(ATM):c.4760C>A (p.Pro1587His) rs748044422
NM_000051.4(ATM):c.4761C>G (p.Pro1587=) rs769562370
NM_000051.4(ATM):c.4761dup (p.Phe1588fs) rs1591677757
NM_000051.4(ATM):c.4762T>C (p.Phe1588Leu) rs2082925146
NM_000051.4(ATM):c.4766C>T (p.Ser1589Leu) rs2082925270
NM_000051.4(ATM):c.4766_4772del (p.Ser1589fs)
NM_000051.4(ATM):c.4767A>G (p.Ser1589=) rs1591677805
NM_000051.4(ATM):c.4769T>G (p.Leu1590Arg)
NM_000051.4(ATM):c.4770C>A (p.Leu1590=) rs749475519
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp) rs1565463381
NM_000051.4(ATM):c.4774del (p.Glu1592fs) rs2135814096
NM_000051.4(ATM):c.4775A>C (p.Glu1592Ala) rs1565463405
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4775A>T (p.Glu1592Val)
NM_000051.4(ATM):c.4776+10A>T rs2135814400
NM_000051.4(ATM):c.4776+10del rs878853512
NM_000051.4(ATM):c.4776+15A>G
NM_000051.4(ATM):c.4776+17C>T
NM_000051.4(ATM):c.4776+18_4776+20del
NM_000051.4(ATM):c.4776+1G>A
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+20C>T
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4776+4A>G rs1591677924
NM_000051.4(ATM):c.4776+6A>C rs1348555180
NM_000051.4(ATM):c.4776+7A>C rs2082927524
NM_000051.4(ATM):c.4776+9A>G rs2135814376
NM_000051.4(ATM):c.4776G>A (p.Glu1592=) rs786202973
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp) rs786202973
NM_000051.4(ATM):c.4777-10del rs1398289633
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4777-11T>G
NM_000051.4(ATM):c.4777-13_4777-10dup
NM_000051.4(ATM):c.4777-14A>G
NM_000051.4(ATM):c.4777-16A>G rs942981609
NM_000051.4(ATM):c.4777-1G>A rs1591684268
NM_000051.4(ATM):c.4777-2A>G
NM_000051.4(ATM):c.4777-3dup rs2083032760
NM_000051.4(ATM):c.4777-4_4777-3del rs2083032760
NM_000051.4(ATM):c.4777-6T>C rs1565465980
NM_000051.4(ATM):c.4777-7C>G rs1565465976
NM_000051.4(ATM):c.4777-7C>T rs1565465976
NM_000051.4(ATM):c.4777-7_4777-6del rs1064794458
NM_000051.4(ATM):c.4777-9C>T rs1214975942
NM_000051.4(ATM):c.477A>G (p.Ile159Met) rs786202644
NM_000051.4(ATM):c.4780A>G (p.Ile1594Val) rs1555101615
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr) rs1555101621
NM_000051.4(ATM):c.4782T>G (p.Ile1594Met) rs2135833642
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.4(ATM):c.4785C>A (p.Asn1595Lys) rs2135833730
NM_000051.4(ATM):c.478T>G (p.Ser160Ala) rs761170769
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4790T>G (p.Phe1597Cys) rs2083034224
NM_000051.4(ATM):c.4794C>G (p.Leu1598=)
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
NM_000051.4(ATM):c.4797A>C (p.Ser1599=) rs1371876868
NM_000051.4(ATM):c.4798G>A (p.Val1600Ile) rs2135834139
NM_000051.4(ATM):c.4798G>T (p.Val1600Leu) rs2135834139
NM_000051.4(ATM):c.4798del (p.Ser1599_Val1600insTer) rs2135834179
NM_000051.4(ATM):c.4799T>A (p.Val1600Glu) rs1591684386
NM_000051.4(ATM):c.4799T>C (p.Val1600Ala) rs1591684386
NM_000051.4(ATM):c.4799dup (p.Ser1601fs) rs2135834235
NM_000051.4(ATM):c.479C>T (p.Ser160Phe) rs35858242
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs) rs1060501659
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.4(ATM):c.4801del (p.Ser1601fs)
NM_000051.4(ATM):c.4802G>C (p.Ser1601Thr) rs587782506
NM_000051.4(ATM):c.4803T>C (p.Ser1601=) rs964364958
NM_000051.4(ATM):c.4804G>T (p.Val1602Phe)
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.4(ATM):c.4807T>G (p.Tyr1603Asp) rs994121421
NM_000051.4(ATM):c.480T>A (p.Ser160=) rs2135125892
NM_000051.4(ATM):c.480T>C (p.Ser160=) rs2135125892
NM_000051.4(ATM):c.480_482dup (p.Ser160_Gln161insHis)
NM_000051.4(ATM):c.4811A>G (p.Asp1604Gly) rs1591684476
NM_000051.4(ATM):c.4813G>A (p.Ala1605Thr) rs1555101706
NM_000051.4(ATM):c.4814C>A (p.Ala1605Glu)
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.4(ATM):c.4815A>C (p.Ala1605=) rs1591684513
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe) rs746103632
NM_000051.4(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.4(ATM):c.4819C>A (p.Pro1607Thr) rs1178015475
NM_000051.4(ATM):c.4819C>G (p.Pro1607Ala)
NM_000051.4(ATM):c.481C>G (p.Gln161Glu)
NM_000051.4(ATM):c.4820C>G (p.Pro1607Arg) rs864622462
NM_000051.4(ATM):c.4820C>T (p.Pro1607Leu) rs864622462
NM_000051.4(ATM):c.4824G>A (p.Leu1608=) rs1239479673
NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala) rs761197886
NM_000051.4(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.4(ATM):c.482A>G (p.Gln161Arg) rs587780625
NM_000051.4(ATM):c.4831C>T (p.Leu1611Phe) rs1026156596
NM_000051.4(ATM):c.4832T>C (p.Leu1611Pro)
NM_000051.4(ATM):c.4833T>A (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>C (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>G (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4836A>G (p.Glu1612=) rs2135835525
NM_000051.4(ATM):c.4838G>C (p.Gly1613Ala) rs2083038889
NM_000051.4(ATM):c.4838G>T (p.Gly1613Val) rs2083038889
NM_000051.4(ATM):c.483G>A (p.Gln161=) rs864622742
NM_000051.4(ATM):c.483G>C (p.Gln161His) rs864622742
NM_000051.4(ATM):c.483G>T (p.Gln161His) rs864622742
NM_000051.4(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.4(ATM):c.4840del (p.Gly1613_Leu1614insTer) rs2083039160
NM_000051.4(ATM):c.4842A>G (p.Leu1614=) rs1057520429
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.4843A>G (p.Lys1615Glu)
NM_000051.4(ATM):c.4844A>C (p.Lys1615Thr) rs867309383
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn) rs888498126
NM_000051.4(ATM):c.4847A>T (p.Asp1616Val) rs1591684782
NM_000051.4(ATM):c.4848T>A (p.Asp1616Glu) rs2083040302
NM_000051.4(ATM):c.4848T>C (p.Asp1616=) rs2083040302
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.4850T>C (p.Leu1617Pro) rs2083040595
NM_000051.4(ATM):c.4852C>G (p.Arg1618Gly) rs762083530
NM_000051.4(ATM):c.4853G>T (p.Arg1618Leu) rs765759912
NM_000051.4(ATM):c.4854A>T (p.Arg1618=)
NM_000051.4(ATM):c.4855A>G (p.Arg1619Gly) rs1555101835
NM_000051.4(ATM):c.4857A>G (p.Arg1619=) rs1555101850
NM_000051.4(ATM):c.4858C>T (p.Gln1620Ter)
NM_000051.4(ATM):c.485A>G (p.Gln162Arg) rs1285593159
NM_000051.4(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.4(ATM):c.4860A>T (p.Gln1620His)
NM_000051.4(ATM):c.4861C>G (p.Leu1621Val)
NM_000051.4(ATM):c.4861C>T (p.Leu1621=) rs759289039
NM_000051.4(ATM):c.4862T>A (p.Leu1621Gln) rs1555101864
NM_000051.4(ATM):c.4863G>C (p.Leu1621=) rs2135836530
NM_000051.4(ATM):c.4864G>C (p.Glu1622Gln) rs2083042425
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
NM_000051.4(ATM):c.4864del (p.Glu1622fs) rs2083042256
NM_000051.4(ATM):c.4865A>G (p.Glu1622Gly) rs1555101872
NM_000051.4(ATM):c.4866A>G (p.Glu1622=) rs2135836682
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.4869A>G (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.486A>G (p.Gln162=)
NM_000051.4(ATM):c.486del (p.Gln162fs) rs2079247626
NM_000051.4(ATM):c.4870C>A (p.His1624Asn) rs1591684971
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.4(ATM):c.4874A>G (p.Lys1625Arg) rs1591685009
NM_000051.4(ATM):c.4876G>T (p.Asp1626Tyr)
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys) rs886039592
NM_000051.4(ATM):c.4879C>G (p.Gln1627Glu)
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.487C>G (p.Gln163Glu) rs1591475608
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg) rs786203857
NM_000051.4(ATM):c.4882A>G (p.Met1628Val) rs1591685091
NM_000051.4(ATM):c.4882A>T (p.Met1628Leu) rs1591685091
NM_000051.4(ATM):c.4884G>T (p.Met1628Ile) rs2083044750
NM_000051.4(ATM):c.4885G>A (p.Val1629Met) rs876660748
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.4891A>T (p.Ile1631Phe) rs2135837721
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser) rs1060501674
NM_000051.4(ATM):c.4893T>A (p.Ile1631=) rs1591685188
NM_000051.4(ATM):c.4893T>C (p.Ile1631=)
NM_000051.4(ATM):c.4894A>G (p.Met1632Val) rs1060501709
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly) rs1591685231
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.489G>C (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.489G>T (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)
NM_000051.4(ATM):c.4902T>C (p.Ala1634=) rs2135838120
NM_000051.4(ATM):c.4903_4905del (p.Ser1635del) rs2135838090
NM_000051.4(ATM):c.4904C>A (p.Ser1635Tyr) rs2083047150
NM_000051.4(ATM):c.4906C>G (p.Gln1636Glu)
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter) rs1060501627
NM_000051.4(ATM):c.4909+10T>G rs2135838699
NM_000051.4(ATM):c.4909+11T>A
NM_000051.4(ATM):c.4909+11T>C
NM_000051.4(ATM):c.4909+14A>G
NM_000051.4(ATM):c.4909+14A>T
NM_000051.4(ATM):c.4909+15T>A
NM_000051.4(ATM):c.4909+17A>G rs550300834
NM_000051.4(ATM):c.4909+18C>T
NM_000051.4(ATM):c.4909+19A>G
NM_000051.4(ATM):c.4909+19A>T rs747032236
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.4909+20T>C rs1401279002
NM_000051.4(ATM):c.4909+4C>G
NM_000051.4(ATM):c.4909+5T>C rs2083048367
NM_000051.4(ATM):c.4909+6A>G rs2083048548
NM_000051.4(ATM):c.4909+7A>G rs2135838624
NM_000051.4(ATM):c.4909+8T>C
NM_000051.4(ATM):c.4909+9T>G rs1555101970
NM_000051.4(ATM):c.4909G>C (p.Asp1637His)
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr) rs753870656
NM_000051.4(ATM):c.490T>C (p.Trp164Arg) rs1060501699
NM_000051.4(ATM):c.4910-10T>C rs2083173059
NM_000051.4(ATM):c.4910-10T>G rs2083173059
NM_000051.4(ATM):c.4910-11A>T
NM_000051.4(ATM):c.4910-11dup rs2135860579
NM_000051.4(ATM):c.4910-14A>C
NM_000051.4(ATM):c.4910-16_4910-5delinsTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGATTATCTAGAAATAATTTTTTAAAAATTAGTTTAAA
NM_000051.4(ATM):c.4910-17T>G rs1238547320
NM_000051.4(ATM):c.4910-1G>C rs1060501706
NM_000051.4(ATM):c.4910-1G>T rs1060501706
NM_000051.4(ATM):c.4910-1_4910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTATTTCTAG
NM_000051.4(ATM):c.4910-2A>C rs1555103156
NM_000051.4(ATM):c.4910-2A>G rs1555103156
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC rs2135857103
NM_000051.4(ATM):c.4910-6T>G rs878853513
NM_000051.4(ATM):c.4910-7T>A rs3092872
NM_000051.4(ATM):c.4910-7T>C rs3092872
NM_000051.4(ATM):c.4910-8A>G rs1555103144
NM_000051.4(ATM):c.4910-9T>C
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr) rs1565469722
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser) rs1565469722
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg) rs752459491
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4918C>T (p.Gln1640Ter)
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro) rs1555103190
NM_000051.4(ATM):c.4919A>G (p.Gln1640Arg) rs1555103190
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly)
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg) rs2135861446
NM_000051.4(ATM):c.4925G>A (p.Gly1642Glu)
NM_000051.4(ATM):c.4925G>C (p.Gly1642Ala)
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)
NM_000051.4(ATM):c.4929T>A (p.Ile1643=) rs2135861750
NM_000051.4(ATM):c.4929del (p.Met1644fs) rs2083175858
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.492G>T (p.Trp164Cys) rs1555059530
NM_000051.4(ATM):c.492dup (p.Leu165fs) rs1555059513
NM_000051.4(ATM):c.4930A>G (p.Met1644Val) rs1591692514
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.4(ATM):c.4932G>A (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4933G>C (p.Val1645Leu) rs757381170
NM_000051.4(ATM):c.4933G>T (p.Val1645Leu) rs757381170
NM_000051.4(ATM):c.4933del (p.Met1644_Val1645insTer) rs2135861869
NM_000051.4(ATM):c.4935G>A (p.Val1645=)
NM_000051.4(ATM):c.4936A>C (p.Lys1646Gln) rs2135861949
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.4939C>T (p.Leu1647=) rs1157451668
NM_000051.4(ATM):c.493T>A (p.Leu165Ile) rs878853514
NM_000051.4(ATM):c.493T>G (p.Leu165Val) rs878853514
NM_000051.4(ATM):c.4940T>A (p.Leu1647Gln)
NM_000051.4(ATM):c.4941A>G (p.Leu1647=) rs786201667
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala) rs997081415
NM_000051.4(ATM):c.4944_4946del (p.Val1649del) rs2135862163
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp) rs2135862254
NM_000051.4(ATM):c.4947C>G (p.Val1649=) rs1436324961
NM_000051.4(ATM):c.4948A>C (p.Asn1650His)
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
NM_000051.4(ATM):c.494T>G (p.Leu165Ter) rs2079249238
NM_000051.4(ATM):c.4951T>A (p.Leu1651Met)
NM_000051.4(ATM):c.4952T>C (p.Leu1651Ser) rs1555103237
NM_000051.4(ATM):c.4952T>G (p.Leu1651Trp) rs1555103237
NM_000051.4(ATM):c.4953G>A (p.Leu1651=) rs786201297
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe) rs786201297
NM_000051.4(ATM):c.4956G>A (p.Leu1652=) rs2135862508
NM_000051.4(ATM):c.4957C>G (p.Gln1653Glu) rs1565469955
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter) rs1565469955
NM_000051.4(ATM):c.4957_4958del (p.Gln1653fs) rs2135862582
NM_000051.4(ATM):c.4958_4959insTAAC (p.Gln1653fs) rs2083178407
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.495dup (p.Glu166fs)
NM_000051.4(ATM):c.496+11A>C
NM_000051.4(ATM):c.496+11A>G
NM_000051.4(ATM):c.496+14G>C rs776887214
NM_000051.4(ATM):c.496+14GTT[2] rs1330640039
NM_000051.4(ATM):c.496+16T>C
NM_000051.4(ATM):c.496+17G>T
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.496+19T>G
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+20G>T rs751245102
NM_000051.4(ATM):c.496+2T>G rs2079249834
NM_000051.4(ATM):c.496+4T>A
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.496+7T>G rs2135126753
NM_000051.4(ATM):c.496+8T>C rs2135126803
NM_000051.4(ATM):c.496+9T>C
NM_000051.4(ATM):c.496+9T>G rs2135126833
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser) rs587781679
NM_000051.4(ATM):c.4962A>G (p.Leu1654=) rs2135862796
NM_000051.4(ATM):c.4963T>G (p.Ser1655Ala) rs1376280581
NM_000051.4(ATM):c.4964C>T (p.Ser1655Phe) rs786201215
NM_000051.4(ATM):c.4965C>T (p.Ser1655=) rs1555103252
NM_000051.4(ATM):c.4966A>G (p.Lys1656Glu) rs1565470010
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg) rs2083179153
NM_000051.4(ATM):c.4969A>C (p.Met1657Leu) rs1060501656
NM_000051.4(ATM):c.4969A>G (p.Met1657Val) rs1060501656
NM_000051.4(ATM):c.4969A>T (p.Met1657Leu) rs1060501656
NM_000051.4(ATM):c.496G>A (p.Glu166Lys) rs1565357473
NM_000051.4(ATM):c.496G>C (p.Glu166Gln) rs1565357473
NM_000051.4(ATM):c.496G>T (p.Glu166Ter) rs1565357473
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2662AAG[3]
NM_000051.4(ATM):c.497-2A>G
NM_000051.4(ATM):c.497-2A>T rs1278985870
NM_000051.4(ATM):c.497-2_498del rs1591499502
NM_000051.4(ATM):c.497-3528_663-121del
NM_000051.4(ATM):c.497-3A>G rs1046559213
NM_000051.4(ATM):c.497-3_498del rs1205233530
NM_000051.4(ATM):c.497-4T>G rs876659621
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.497-5T>A
NM_000051.4(ATM):c.497-5T>C rs1591499452
NM_000051.4(ATM):c.497-7T>A
NM_000051.4(ATM):c.497-7T>C
NM_000051.4(ATM):c.497-7T>G
NM_000051.4(ATM):c.497-9T>G rs2079693632
NM_000051.4(ATM):c.4971G>C (p.Met1657Ile)
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser) rs372679141
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.4(ATM):c.4978A>C (p.Asn1660His)
NM_000051.4(ATM):c.4979A>T (p.Asn1660Ile) rs2083180093
NM_000051.4(ATM):c.497A>G (p.Glu166Gly) rs863224573
NM_000051.4(ATM):c.497A>T (p.Glu166Val) rs863224573
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.4981C>A (p.His1661Asn) rs1591692950
NM_000051.4(ATM):c.4981C>T (p.His1661Tyr)
NM_000051.4(ATM):c.4983C>T (p.His1661=) rs2083180642
NM_000051.4(ATM):c.4984A>G (p.Thr1662Ala)
NM_000051.4(ATM):c.4985C>A (p.Thr1662Asn) rs1591692969
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile) rs1591692969
NM_000051.4(ATM):c.4986T>A (p.Thr1662=) rs2083180883
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser) rs1346404008
NM_000051.4(ATM):c.4987G>T (p.Gly1663Cys)
NM_000051.4(ATM):c.4988G>A (p.Gly1663Asp)
NM_000051.4(ATM):c.4988del (p.Gly1663fs) rs1565470139
NM_000051.4(ATM):c.4989T>G (p.Gly1663=) rs1591693006
NM_000051.4(ATM):c.498A>C (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.498A>G (p.Glu166=) rs587779842
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.4990G>A (p.Glu1664Lys) rs1555103301
NM_000051.4(ATM):c.4990G>C (p.Glu1664Gln) rs1555103301
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.4991A>G (p.Glu1664Gly) rs2083181675
NM_000051.4(ATM):c.4996G>A (p.Glu1666Lys)
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile) rs780137734
NM_000051.4(ATM):c.4999G>C (p.Val1667Leu) rs780137734
NM_000051.4(ATM):c.499T>C (p.Leu167=) rs2135221733
NM_000051.4(ATM):c.4A>G (p.Ser2Gly) rs1591445677
NM_000051.4(ATM):c.5000T>C (p.Val1667Ala)
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly) rs2135864002
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile) rs747317946
NM_000051.4(ATM):c.5004A>G (p.Leu1668=) rs768565424
NM_000051.4(ATM):c.5005+10A>G rs2083183551
NM_000051.4(ATM):c.5005+12T>A rs2135864456
NM_000051.4(ATM):c.5005+14dup
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005+15T>C rs377355762
NM_000051.4(ATM):c.5005+17C>A rs200688912
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5005+19C>G rs1064794787
NM_000051.4(ATM):c.5005+19C>T
NM_000051.4(ATM):c.5005+1G>A rs1057517427
NM_000051.4(ATM):c.5005+20T>C
NM_000051.4(ATM):c.5005+20T>G
NM_000051.4(ATM):c.5005G>C (p.Glu1669Gln)
NM_000051.4(ATM):c.5006-10C>T rs2083315555
NM_000051.4(ATM):c.5006-12T>G rs2083315314
NM_000051.4(ATM):c.5006-14A>C rs2083314877
NM_000051.4(ATM):c.5006-14A>G
NM_000051.4(ATM):c.5006-17A>G
NM_000051.4(ATM):c.5006-17A>T
NM_000051.4(ATM):c.5006-19A>G
NM_000051.4(ATM):c.5006-1G>A rs1591701799
NM_000051.4(ATM):c.5006-2A>G rs2135887733
NM_000051.4(ATM):c.5006-4G>A rs1591701752
NM_000051.4(ATM):c.5006-4G>T
NM_000051.4(ATM):c.5006-5T>A rs1555104475
NM_000051.4(ATM):c.5006-5T>C
NM_000051.4(ATM):c.5006-5T>G
NM_000051.4(ATM):c.5006-6A>G rs1392301961
NM_000051.4(ATM):c.5006-8A>G rs1057520447
NM_000051.4(ATM):c.5007G>C (p.Glu1669Asp) rs2135887789
NM_000051.4(ATM):c.5008G>T (p.Ala1670Ser)
NM_000051.4(ATM):c.5010T>C (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.5010T>G (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile) rs1057523385
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.5012T>C (p.Val1671Ala) rs1361913028
NM_000051.4(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn) rs878853515
NM_000051.4(ATM):c.5019C>T (p.Ser1673=) rs1565473483
NM_000051.4(ATM):c.501G>A (p.Leu167=) rs1181703620
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.501_503del (p.Leu167del) rs1555066242
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg) rs1555104511
NM_000051.4(ATM):c.5021G>A (p.Cys1674Tyr) rs1555104518
NM_000051.4(ATM):c.5021G>T (p.Cys1674Phe) rs1555104518
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp) rs2083319473
NM_000051.4(ATM):c.5023T>C (p.Leu1675=) rs876660275
NM_000051.4(ATM):c.5024T>C (p.Leu1675Ser)
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu) rs1565473530
NM_000051.4(ATM):c.5028_5036del (p.Glu1677_Gly1679del) rs1555104529
NM_000051.4(ATM):c.5028_5045del (p.Glu1677_Asp1682del) rs2135888605
NM_000051.4(ATM):c.5028del (p.Glu1677fs)
NM_000051.4(ATM):c.502T>C (p.Phe168Leu) rs1565369177
NM_000051.4(ATM):c.5031A>C (p.Glu1677Asp) rs2083320477
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu) rs878853516
NM_000051.4(ATM):c.5033T>G (p.Val1678Gly) rs878853516
NM_000051.4(ATM):c.5034G>A (p.Val1678=)
NM_000051.4(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.4(ATM):c.5034_5035delinsTC (p.Gly1679Arg) rs2083321272
NM_000051.4(ATM):c.5035G>A (p.Gly1679Ser)
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp) rs1064794124
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val) rs1064794124
NM_000051.4(ATM):c.5038C>G (p.Pro1680Ala) rs1565473572
NM_000051.4(ATM):c.5039C>G (p.Pro1680Arg) rs587782153
NM_000051.4(ATM):c.503del (p.Phe168fs) rs2135221867
NM_000051.4(ATM):c.5041A>G (p.Ile1681Val) rs1298268285
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.4(ATM):c.5042T>G (p.Ile1681Arg) rs1307715383
NM_000051.4(ATM):c.5043A>G (p.Ile1681Met) rs2083322309
NM_000051.4(ATM):c.5044G>A (p.Asp1682Asn) rs121434217
NM_000051.4(ATM):c.5044G>T (p.Asp1682Tyr)
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
NM_000051.4(ATM):c.5045A>T (p.Asp1682Val) rs980731959
NM_000051.4(ATM):c.5046T>C (p.Asp1682=) rs2135889217
NM_000051.4(ATM):c.5048T>A (p.Phe1683Tyr) rs2083322735
NM_000051.4(ATM):c.5048_5052del (p.Phe1683fs) rs2135889257
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr) rs1591702098
NM_000051.4(ATM):c.5051C>G (p.Ser1684Cys) rs1565473651
NM_000051.4(ATM):c.5051C>T (p.Ser1684Phe) rs1565473651
NM_000051.4(ATM):c.5053A>C (p.Thr1685Pro) rs879254205
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.5053A>T (p.Thr1685Ser)
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr) rs1555104597
NM_000051.4(ATM):c.505_516del (p.Ser169_Phe172del) rs2135221888
NM_000051.4(ATM):c.5060C>G (p.Ala1687Gly) rs1591702201
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg) rs199836342
NM_000051.4(ATM):c.5064A>C (p.Ile1688=) rs1565473763
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.5066A>G (p.Gln1689Arg) rs1555104616
NM_000051.4(ATM):c.5067A>G (p.Gln1689=) rs1555104621
NM_000051.4(ATM):c.5068C>G (p.His1690Asp) rs1591702291
NM_000051.4(ATM):c.506C>T (p.Ser169Phe) rs587779843
NM_000051.4(ATM):c.5070del (p.His1690fs) rs2083325659
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly) rs1800059
NM_000051.4(ATM):c.5073_5074dup (p.Lys1692fs) rs2083326327
NM_000051.4(ATM):c.5074A>G (p.Lys1692Glu) rs2083326508
NM_000051.4(ATM):c.5076del (p.Asp1693fs) rs1591702340
NM_000051.4(ATM):c.5077G>C (p.Asp1693His) rs1591702362
NM_000051.4(ATM):c.5078A>T (p.Asp1693Val) rs1591702387
NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly) rs587782551
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val) rs587782551
NM_000051.4(ATM):c.5082A>G (p.Ala1694=) rs778014234
NM_000051.4(ATM):c.5085T>G (p.Ser1695=) rs2135890366
NM_000051.4(ATM):c.5087A>G (p.Tyr1696Cys) rs1555104673
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe) rs1555104673
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.4(ATM):c.5088T>G (p.Tyr1696Ter) rs786203476
NM_000051.4(ATM):c.5089A>C (p.Thr1697Pro) rs142455912
NM_000051.4(ATM):c.508G>A (p.Val170Met) rs786202781
NM_000051.4(ATM):c.508G>C (p.Val170Leu)
NM_000051.4(ATM):c.508G>T (p.Val170Leu) rs786202781
NM_000051.4(ATM):c.5091C>T (p.Thr1697=) rs1555104680
NM_000051.4(ATM):c.5092A>G (p.Lys1698Glu)
NM_000051.4(ATM):c.5093A>G (p.Lys1698Arg)
NM_000051.4(ATM):c.5093A>T (p.Lys1698Met) rs1591702557
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.5097C>A (p.Ala1699=) rs2135890740
NM_000051.4(ATM):c.5098C>T (p.Leu1700Phe) rs2135890776
NM_000051.4(ATM):c.5099T>G (p.Leu1700Arg) rs2135890816
NM_000051.4(ATM):c.50A>C (p.His17Pro)
NM_000051.4(ATM):c.50A>G (p.His17Arg) rs1242444722
NM_000051.4(ATM):c.50_51del (p.His17fs) rs775561876
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
NM_000051.4(ATM):c.5100dup (p.Lys1701Ter) rs2135890847
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu) rs746220021
NM_000051.4(ATM):c.5102A>C (p.Lys1701Thr) rs2083330722
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs) rs1555104693
NM_000051.4(ATM):c.5103G>A (p.Lys1701=)
NM_000051.4(ATM):c.5106A>G (p.Leu1702=) rs2083331055
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu) rs1591702635
NM_000051.4(ATM):c.5107T>G (p.Phe1703Val)
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser) rs772376652
NM_000051.4(ATM):c.510G>C (p.Val170=) rs375682557
NM_000051.4(ATM):c.510_511del (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly) rs2083331490
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn) rs1565474013
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly) rs2083331705
NM_000051.4(ATM):c.5114A>T (p.Asp1705Val)
NM_000051.4(ATM):c.5115T>C (p.Asp1705=) rs876658685
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu) rs1291151519
NM_000051.4(ATM):c.5118A>G (p.Lys1706=) rs3218672
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5119G>A (p.Glu1707Lys) rs1565474056
NM_000051.4(ATM):c.5121A>G (p.Glu1707=) rs2135891426
NM_000051.4(ATM):c.5122C>T (p.Leu1708Phe) rs1555104730
NM_000051.4(ATM):c.5124T>G (p.Leu1708=) rs864622668
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg) rs587780627
NM_000051.4(ATM):c.5127G>C (p.Gln1709His) rs1057521839
NM_000051.4(ATM):c.5129_5763-1060del
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe) rs1060501616
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.4(ATM):c.5131A>G (p.Thr1711Ala)
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn) rs1291016764
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile) rs1291016764
NM_000051.4(ATM):c.5133C>G (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5133C>T (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5134T>C (p.Phe1712Leu) rs2135891932
NM_000051.4(ATM):c.5134_5136del (p.Phe1712del) rs2135891905
NM_000051.4(ATM):c.5137A>G (p.Ile1713Val)
NM_000051.4(ATM):c.5139A>C (p.Ile1713=) rs1233346885
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg) rs1591702873
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5145G>C (p.Leu1715=)
NM_000051.4(ATM):c.5145G>T (p.Leu1715=)
NM_000051.4(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.4(ATM):c.514T>G (p.Phe172Val)
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter) rs1591702911
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)
NM_000051.4(ATM):c.5152_5160dup (p.Asn1720_Thr1721insLeuAsnAsn)
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln) rs1555104784
NM_000051.4(ATM):c.5154G>A (p.Leu1718=) rs1555104785
NM_000051.4(ATM):c.5155A>G (p.Asn1719Asp) rs2083336312
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5158A>G (p.Asn1720Asp) rs2135892784
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile) rs786203910
NM_000051.4(ATM):c.5163A>G (p.Thr1721=) rs1565474295
NM_000051.4(ATM):c.5165T>C (p.Leu1722Pro)
NM_000051.4(ATM):c.5166_5168dup (p.Val1723_Glu1724insVal)
NM_000051.4(ATM):c.5167G>A (p.Val1723Ile) rs1565474312
NM_000051.4(ATM):c.5167G>C (p.Val1723Leu)
NM_000051.4(ATM):c.5167del (p.Leu1722_Val1723insTer) rs2135893101
NM_000051.4(ATM):c.5168T>C (p.Val1723Ala) rs915337829
NM_000051.4(ATM):c.5169A>G (p.Val1723=) rs2135893173
NM_000051.4(ATM):c.516C>T (p.Phe172=) rs1591499730
NM_000051.4(ATM):c.5171A>G (p.Glu1724Gly) rs2135893191
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5173G>A (p.Asp1725Asn)
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr) rs1555104799
NM_000051.4(ATM):c.5175T>C (p.Asp1725=) rs1555104803
NM_000051.4(ATM):c.5177+10_5177+13del
NM_000051.4(ATM):c.5177+14G>C rs2135893694
NM_000051.4(ATM):c.5177+15A>C
NM_000051.4(ATM):c.5177+16T>A rs2135893735
NM_000051.4(ATM):c.5177+17A>C
NM_000051.4(ATM):c.5177+19C>A
NM_000051.4(ATM):c.5177+1G>A rs1131691159
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5177+1del rs2083338520
NM_000051.4(ATM):c.5177+20T>A
NM_000051.4(ATM):c.5177+20T>G
NM_000051.4(ATM):c.5177+2T>A
NM_000051.4(ATM):c.5177+3_5177+6del
NM_000051.4(ATM):c.5177+4A>C rs2083338902
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5177+5G>T rs759373136
NM_000051.4(ATM):c.5177+6T>A rs1555104814
NM_000051.4(ATM):c.5177+7A>G rs2135893538
NM_000051.4(ATM):c.5177+9T>C rs767425639
NM_000051.4(ATM):c.5177G>T (p.Cys1726Phe) rs2083338412
NM_000051.4(ATM):c.5178-10T>G rs1565476613
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-11G>T rs200876654
NM_000051.4(ATM):c.5178-11_5178-9del
NM_000051.4(ATM):c.5178-14A>G
NM_000051.4(ATM):c.5178-14del
NM_000051.4(ATM):c.5178-15A>C
NM_000051.4(ATM):c.5178-18T>C rs1057522381
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-2A>C
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5178-3del rs1555105575
NM_000051.4(ATM):c.5178-4del rs747750958
NM_000051.4(ATM):c.5178-4dup rs747750958
NM_000051.4(ATM):c.5178-7T>C rs1555105564
NM_000051.4(ATM):c.5178-8T>G rs2135911389
NM_000051.4(ATM):c.5178-9T>A
NM_000051.4(ATM):c.5178-9T>C
NM_000051.4(ATM):c.5178-9T>G rs1555105562
NM_000051.4(ATM):c.5178-9_5202del rs2135911351
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
NM_000051.4(ATM):c.517A>C (p.Arg173=) rs1591499740
NM_000051.4(ATM):c.5184A>T (p.Lys1728Asn)
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5186T>A (p.Val1729Asp)
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.4(ATM):c.5188C>A (p.Arg1730=) rs764389018
NM_000051.4(ATM):c.5189G>C (p.Arg1730Pro)
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.518G>C (p.Arg173Thr)
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro) rs1064793038
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.4(ATM):c.5193AGC[1] (p.Ala1733del) rs2135912045
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.4(ATM):c.5194G>T (p.Ala1732Ser)
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr) rs1591708460
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)
NM_000051.4(ATM):c.519G>A (p.Arg173=)
NM_000051.4(ATM):c.519_520insTG (p.Leu174fs)
NM_000051.4(ATM):c.51T>C (p.His17=) rs1591446045
NM_000051.4(ATM):c.5200del (p.Val1734fs) rs2135912272
NM_000051.4(ATM):c.5201T>C (p.Val1734Ala)
NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs) rs730881305
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile) rs1555105650
NM_000051.4(ATM):c.5205C>A (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5205C>G (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr) rs1172318140
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp) rs1591708558
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu) rs1064793957
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)
NM_000051.4(ATM):c.5217C>T (p.Asn1739=) rs876658271
NM_000051.4(ATM):c.5217_5231del (p.Asn1739_Thr1743del) rs2135912726
NM_000051.4(ATM):c.5218A>C (p.Ile1740Leu) rs1358200819
NM_000051.4(ATM):c.5218_5225dup (p.Ala1742_Thr1743insPheTer)
NM_000051.4(ATM):c.5220T>C (p.Ile1740=)
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser) rs750896881
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe) rs1591708658
NM_000051.4(ATM):c.5225C>T (p.Ala1742Val)
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala) rs758924620
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser) rs758924620
NM_000051.4(ATM):c.5229A>G (p.Thr1743=) rs878853519
NM_000051.4(ATM):c.522C>T (p.Leu174=) rs780173724
NM_000051.4(ATM):c.5231A>G (p.Lys1744Arg)
NM_000051.4(ATM):c.5232G>A (p.Lys1744=) rs2083440178
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn) rs2083440178
NM_000051.4(ATM):c.5235T>A (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>C (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>G (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu)
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val) rs879254135
NM_000051.4(ATM):c.5238A>G (p.Gly1746=)
NM_000051.4(ATM):c.5239C>T (p.His1747Tyr)
NM_000051.4(ATM):c.523T>A (p.Tyr175Asn) rs2079697425
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg) rs876658175
NM_000051.4(ATM):c.5242A>G (p.Ser1748Gly)
NM_000051.4(ATM):c.5243G>T (p.Ser1748Ile)
NM_000051.4(ATM):c.5244T>C (p.Ser1748=) rs2083440966
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg) rs2083440966
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser) rs1591708790
NM_000051.4(ATM):c.5247C>T (p.Phe1749=) rs2083441197
NM_000051.4(ATM):c.5248T>C (p.Trp1750Arg)
NM_000051.4(ATM):c.5249G>A (p.Trp1750Ter) rs1060501669
NM_000051.4(ATM):c.5249G>T (p.Trp1750Leu) rs1060501669
NM_000051.4(ATM):c.524A>G (p.Tyr175Cys)
NM_000051.4(ATM):c.5250G>C (p.Trp1750Cys) rs587779845
NM_000051.4(ATM):c.5253G>T (p.Glu1751Asp) rs1370155496
NM_000051.4(ATM):c.5255T>C (p.Ile1752Thr) rs2083441818
NM_000051.4(ATM):c.5255_5256insCT (p.Tyr1753fs) rs2083441908
NM_000051.4(ATM):c.5256T>A (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5257T>G (p.Tyr1753Asp)
NM_000051.4(ATM):c.5257del (p.Tyr1753fs)
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5261A>G (p.Lys1754Arg)
NM_000051.4(ATM):c.5262G>A (p.Lys1754=) rs748900588
NM_000051.4(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.4(ATM):c.5264T>A (p.Met1755Lys) rs1555105739
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr) rs1555105739
NM_000051.4(ATM):c.5265G>T (p.Met1755Ile) rs1060501556
NM_000051.4(ATM):c.5265_5270delinsTTATAAGATTTATAAGAT (p.Met1755_Thr1757delinsIleTyrLysIleTyrLysIle) rs2083442751
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.4(ATM):c.5268A>G (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.5268A>T (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.5269A>C (p.Thr1757Pro) rs1591708923
NM_000051.4(ATM):c.526C>A (p.Leu176Met) rs375798802
NM_000051.4(ATM):c.526C>T (p.Leu176=) rs375798802
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile) rs587781575
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.4(ATM):c.5276C>T (p.Pro1759Leu) rs1565477222
NM_000051.4(ATM):c.5277A>T (p.Pro1759=) rs2135914528
NM_000051.4(ATM):c.5278A>T (p.Met1760Leu) rs151327241
NM_000051.4(ATM):c.5279T>A (p.Met1760Lys)
NM_000051.4(ATM):c.5279T>C (p.Met1760Thr)
NM_000051.4(ATM):c.5279dup (p.Met1760fs) rs2135914599
NM_000051.4(ATM):c.527T>A (p.Leu176Gln) rs1555066315
NM_000051.4(ATM):c.5281C>G (p.Leu1761Val) rs2083443935
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
NM_000051.4(ATM):c.5283G>C (p.Leu1761=)
NM_000051.4(ATM):c.5285C>G (p.Ala1762Gly) rs1272524343
NM_000051.4(ATM):c.5286C>T (p.Ala1762=)
NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs) rs1591709001
NM_000051.4(ATM):c.5287_5288insTTTAGAACATCAAGAAAAAACTACATCAAGAACATCAAGAAC (p.Tyr1763delinsPheTer)
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys) rs1555105780
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs) rs2135914733
NM_000051.4(ATM):c.5289T>C (p.Tyr1763=)
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val) rs2083444552
NM_000051.4(ATM):c.5291T>G (p.Leu1764Arg) rs2135915061
NM_000051.4(ATM):c.5292A>G (p.Leu1764=) rs786201703
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg) rs35556390
NM_000051.4(ATM):c.52G>A (p.Asp18Asn) rs2078809121
NM_000051.4(ATM):c.52G>C (p.Asp18His)
NM_000051.4(ATM):c.52G>T (p.Asp18Tyr)
NM_000051.4(ATM):c.52_54dup (p.Asp18dup) rs2135005981
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser) rs864622125
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.4(ATM):c.5301T>C (p.Phe1767=) rs1468101040
NM_000051.4(ATM):c.5304A>G (p.Arg1768=) rs1591709095
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5306C>T (p.Thr1769Ile)
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.4(ATM):c.5313A>G (p.Arg1771=) rs1591709164
NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)
NM_000051.4(ATM):c.5318A>G (p.Lys1773Arg) rs2135915965
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5318dup (p.Phe1774fs) rs876660289
NM_000051.4(ATM):c.5319+11T>G
NM_000051.4(ATM):c.5319+12_5319+55dup
NM_000051.4(ATM):c.5319+14T>C
NM_000051.4(ATM):c.5319+15A>C rs2135916591
NM_000051.4(ATM):c.5319+15A>G rs2135916591
NM_000051.4(ATM):c.5319+17A>G rs1331649240
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5319+1del rs2135916021
NM_000051.4(ATM):c.5319+22del rs2135916722
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5319+2T>G rs1555105842
NM_000051.4(ATM):c.5319+3C>T rs371640963
NM_000051.4(ATM):c.5319+3_5319+5del
NM_000051.4(ATM):c.5319+4T>A rs1170957197
NM_000051.4(ATM):c.5319+4T>C rs1170957197
NM_000051.4(ATM):c.5319+5C>T rs1565477462
NM_000051.4(ATM):c.5319+6_5319+7dup rs2083447804
NM_000051.4(ATM):c.5319+7T>C rs925428128
NM_000051.4(ATM):c.5319+9_5319+11delinsTTC rs2135916413
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn) rs2083446824
NM_000051.4(ATM):c.5319G>T (p.Lys1773Asn)
NM_000051.4(ATM):c.5320-10T>G
NM_000051.4(ATM):c.5320-11T>C
NM_000051.4(ATM):c.5320-12C>T
NM_000051.4(ATM):c.5320-13C>A
NM_000051.4(ATM):c.5320-13C>T rs1565478723
NM_000051.4(ATM):c.5320-14C>T rs182663175
NM_000051.4(ATM):c.5320-19del
NM_000051.4(ATM):c.5320-1G>C rs2135926774
NM_000051.4(ATM):c.5320-20T>C rs2135926264
NM_000051.4(ATM):c.5320-20T>G
NM_000051.4(ATM):c.5320-2A>C rs1400417135
NM_000051.4(ATM):c.5320-2A>G
NM_000051.4(ATM):c.5320-3T>C rs1346691984
NM_000051.4(ATM):c.5320-4_5323del rs1057516540
NM_000051.4(ATM):c.5320-5T>C rs1555106308
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5320-6_5320-3del rs864622386
NM_000051.4(ATM):c.5320-7T>G rs863224292
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer) rs2083496327
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys) rs1555106321
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5327A>T (p.Glu1776Val) rs2083497029
NM_000051.4(ATM):c.5328A>G (p.Glu1776=)
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.5331A>G (p.Val1777=)
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser) rs1279041730
NM_000051.4(ATM):c.5333C>T (p.Pro1778Leu)
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser) rs369351803
NM_000051.4(ATM):c.5339T>A (p.Phe1780Tyr) rs2083497990
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys) rs2083497990
NM_000051.4(ATM):c.533C>T (p.Pro178Leu) rs1591499842
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu) rs1591712154
NM_000051.4(ATM):c.5346A>C (p.Lys1782Asn) rs1555106345
NM_000051.4(ATM):c.5346dup (p.Glu1783fs) rs2135927478
NM_000051.4(ATM):c.5347G>A (p.Glu1783Lys) rs2083498434
NM_000051.4(ATM):c.5347_5348dup (p.Asn1784fs)
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5349A>G (p.Glu1783=) rs1555106353
NM_000051.4(ATM):c.534T>C (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.534T>G (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.5350A>G (p.Asn1784Asp)
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala) rs587779848
NM_000051.4(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.4(ATM):c.5357_5358dup (p.Glu1787fs)
NM_000051.4(ATM):c.5358T>C (p.Phe1786=) rs876659725
NM_000051.4(ATM):c.5363G>T (p.Gly1788Val) rs2135927977
NM_000051.4(ATM):c.5365C>T (p.Leu1789=) rs2135928017
NM_000051.4(ATM):c.5368G>C (p.Asp1790His) rs876658890
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.4(ATM):c.536C>T (p.Ser179Leu) rs2079698324
NM_000051.4(ATM):c.5371G>A (p.Asp1791Asn)
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly) rs367987632
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.4(ATM):c.5375T>G (p.Ile1792Arg) rs776309355
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met) rs1287734608
NM_000051.4(ATM):c.5376A>T (p.Ile1792=) rs1287734608
NM_000051.4(ATM):c.5377A>C (p.Asn1793His) rs730881374
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val) rs1591712398
NM_000051.4(ATM):c.5381T>G (p.Leu1794Arg)
NM_000051.4(ATM):c.5382del (p.Trp1795fs)
NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs) rs1474055596
NM_000051.4(ATM):c.5385G>A (p.Trp1795Ter)
NM_000051.4(ATM):c.5385del (p.Leu1794_Trp1795insTer)
NM_000051.4(ATM):c.5386A>G (p.Ile1796Val)
NM_000051.4(ATM):c.5389C>A (p.Pro1797Thr)
NM_000051.4(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.4(ATM):c.5390C>T (p.Pro1797Leu) rs2135928610
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.4(ATM):c.5392C>T (p.Leu1798=) rs879254274
NM_000051.4(ATM):c.5394A>G (p.Leu1798=) rs2135928681
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly) rs2083501896
NM_000051.4(ATM):c.5395dup (p.Ser1799fs) rs1591712447
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.4(ATM):c.539A>T (p.Gln180Leu) rs730881334
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp) rs2135928904
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr) rs2083502328
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.4(ATM):c.5402del (p.Asn1801fs) rs1555106438
NM_000051.4(ATM):c.5404C>T (p.His1802Tyr) rs2083502587
NM_000051.4(ATM):c.5405A>G (p.His1802Arg) rs878853521
NM_000051.4(ATM):c.5405A>T (p.His1802Leu) rs878853521
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.5406T>C (p.His1802=)
NM_000051.4(ATM):c.5407G>C (p.Asp1803His) rs2083502901
NM_000051.4(ATM):c.5408A>T (p.Asp1803Val) rs2135929138
NM_000051.4(ATM):c.5409C>T (p.Asp1803=) rs1555106462
NM_000051.4(ATM):c.540del (p.Asp181fs) rs1565369355
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu) rs1591712583
NM_000051.4(ATM):c.541G>A (p.Asp181Asn) rs2079698928
NM_000051.4(ATM):c.5424_5429del (p.Leu1809_Thr1810del) rs2083503966
NM_000051.4(ATM):c.5425C>G (p.Leu1809Val) rs2135929542
NM_000051.4(ATM):c.5426T>A (p.Leu1809Gln) rs2083504168
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro) rs2083504168
NM_000051.4(ATM):c.5428A>G (p.Thr1810Ala) rs876659748
NM_000051.4(ATM):c.5428A>T (p.Thr1810Ser) rs876659748
NM_000051.4(ATM):c.5429C>T (p.Thr1810Ile) rs1565479223
NM_000051.4(ATM):c.5430T>G (p.Thr1810=) rs1057522229
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs) rs2135929688
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser) rs149569091
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.4(ATM):c.5436T>C (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5436T>G (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5441T>G (p.Leu1814Trp) rs2083505270
NM_000051.4(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.4(ATM):c.5442G>A (p.Leu1814=) rs2083505400
NM_000051.4(ATM):c.5443del (p.Asp1815fs) rs878853522
NM_000051.4(ATM):c.5444A>T (p.Asp1815Val)
NM_000051.4(ATM):c.5445C>A (p.Asp1815Glu)
NM_000051.4(ATM):c.5445C>G (p.Asp1815Glu) rs1555106518
NM_000051.4(ATM):c.5447G>C (p.Ser1816Thr) rs2135930154
NM_000051.4(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.4(ATM):c.544G>A (p.Val182Ile) rs3218707
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu) rs2083506323
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser) rs774784546
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu) rs1555106531
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5457A>G (p.Thr1819=) rs1555106535
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.4(ATM):c.545T>G (p.Val182Gly)
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5461T>G (p.Cys1821Gly)
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr) rs1565479431
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5464G>A (p.Glu1822Lys) rs1591712872
NM_000051.4(ATM):c.5465A>C (p.Glu1822Ala) rs2135930592
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe) rs2083508049
NM_000051.4(ATM):c.546T>G (p.Val182=) rs2135223336
NM_000051.4(ATM):c.5471T>C (p.Leu1824Pro) rs1565479465
NM_000051.4(ATM):c.5472T>A (p.Leu1824=) rs2135930756
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter) rs1555106553
NM_000051.4(ATM):c.5474A>C (p.Gln1825Pro) rs587782655
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)
NM_000051.4(ATM):c.5476T>A (p.Leu1826Ile) rs1555106563
NM_000051.4(ATM):c.5476T>C (p.Leu1826=) rs1555106563
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val) rs1555106563
NM_000051.4(ATM):c.5479T>C (p.Leu1827=) rs2135930931
NM_000051.4(ATM):c.547C>G (p.His183Asp) rs1409889384
NM_000051.4(ATM):c.547C>T (p.His183Tyr) rs1409889384
NM_000051.4(ATM):c.5481A>G (p.Leu1827=) rs2135930953
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln) rs2083509111
NM_000051.4(ATM):c.5484G>A (p.Lys1828=)
NM_000051.4(ATM):c.5488A>T (p.Met1830Leu) rs587781622
NM_000051.4(ATM):c.548A>C (p.His183Pro) rs786204219
NM_000051.4(ATM):c.548A>G (p.His183Arg) rs786204219
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile) rs779720793
NM_000051.4(ATM):c.5492G>A (p.Cys1831Tyr) rs1555106575
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys) rs1591713057
NM_000051.4(ATM):c.5496+13A>G
NM_000051.4(ATM):c.5496+13_5496+16del rs1382076363
NM_000051.4(ATM):c.5496+14T>G rs1172938746
NM_000051.4(ATM):c.5496+15T>G
NM_000051.4(ATM):c.5496+18T>G rs2135931607
NM_000051.4(ATM):c.5496+19C>T
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>A
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5496+4A>G rs1565479590
NM_000051.4(ATM):c.5496+645T>C
NM_000051.4(ATM):c.5496+645T>G
NM_000051.4(ATM):c.5496+7_5496+9del rs878853523
NM_000051.4(ATM):c.5496A>G (p.Glu1832=) rs1591713080
NM_000051.4(ATM):c.5497-11G>T rs2135942166
NM_000051.4(ATM):c.5497-12T>G
NM_000051.4(ATM):c.5497-12del
NM_000051.4(ATM):c.5497-13T>G
NM_000051.4(ATM):c.5497-13_5497-10del
NM_000051.4(ATM):c.5497-15G>A rs3092828
NM_000051.4(ATM):c.5497-18T>G rs2135942080
NM_000051.4(ATM):c.5497-19A>G rs1555107231
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-20G>T
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.5497-3T>A rs1064795486
NM_000051.4(ATM):c.5497-3T>C rs1064795486
NM_000051.4(ATM):c.5497-4C>G rs1002998981
NM_000051.4(ATM):c.5497-4dup rs2083589744
NM_000051.4(ATM):c.5497-7A>G rs2135942246
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.5497G>A (p.Val1833Met) rs2135942364
NM_000051.4(ATM):c.5498T>G (p.Val1833Gly)
NM_000051.4(ATM):c.5499_5509del (p.Lys1834fs)
NM_000051.4(ATM):c.549T>A (p.His183Gln) rs1591499967
NM_000051.4(ATM):c.549T>G (p.His183Gln) rs1591499967
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.54T>C (p.Asp18=) rs786203926
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser) rs2135942516
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn) rs2135942560
NM_000051.4(ATM):c.5506G>C (p.Asp1836His) rs2135942560
NM_000051.4(ATM):c.5507A>T (p.Asp1836Val) rs1555107256
NM_000051.4(ATM):c.5508C>T (p.Asp1836=) rs2135942603
NM_000051.4(ATM):c.5509T>C (p.Phe1837Leu)
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.4(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.4(ATM):c.5511T>C (p.Phe1837=)
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5511_5587dup (p.Ser1863delinsPheValArgLeuTyrPheHisThrTer)
NM_000051.4(ATM):c.5512T>C (p.Cys1838Arg) rs587781390
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly) rs587781390
NM_000051.4(ATM):c.5513G>C (p.Cys1838Ser)
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5516A>T (p.Gln1839Leu)
NM_000051.4(ATM):c.5516dup (p.Thr1840fs) rs879254242
NM_000051.4(ATM):c.551G>A (p.Arg184Lys) rs2135223542
NM_000051.4(ATM):c.5520T>C (p.Thr1840=) rs1591717575
NM_000051.4(ATM):c.5520T>G (p.Thr1840=)
NM_000051.4(ATM):c.5521G>A (p.Val1841Ile) rs1565481593
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.4(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5523A>G (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5525T>G (p.Leu1842Arg) rs1060501619
NM_000051.4(ATM):c.5526T>A (p.Leu1842=) rs2135942991
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala) rs1060501607
NM_000051.4(ATM):c.5528C>G (p.Pro1843Arg) rs764522350
NM_000051.4(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.4(ATM):c.5529A>T (p.Pro1843=)
NM_000051.4(ATM):c.552A>G (p.Arg184=) rs2135223587
NM_000051.4(ATM):c.5531A>C (p.Tyr1844Ser) rs876658907
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter) rs2135943149
NM_000051.4(ATM):c.5532C>T (p.Tyr1844=)
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe) rs587779849
NM_000051.4(ATM):c.5537T>C (p.Ile1846Thr)
NM_000051.4(ATM):c.5539C>G (p.His1847Asp) rs1591717732
NM_000051.4(ATM):c.553G>C (p.Val185Leu)
NM_000051.4(ATM):c.5540A>G (p.His1847Arg) rs2083593874
NM_000051.4(ATM):c.5541T>C (p.His1847=) rs1555107326
NM_000051.4(ATM):c.5542G>C (p.Asp1848His) rs2135943397
NM_000051.4(ATM):c.5542_5544del (p.Asp1848del)
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly) rs1555107329
NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter) rs878853525
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5549dup (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5550A>C (p.Leu1850Phe)
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val) rs200842502
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.4(ATM):c.5552T>A (p.Leu1851His) rs2135943595
NM_000051.4(ATM):c.5552T>C (p.Leu1851Pro) rs2135943595
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.5557_5558delinsAG (p.Asp1853Ser)
NM_000051.4(ATM):c.5558A>G (p.Asp1853Gly)
NM_000051.4(ATM):c.5559T>C (p.Asp1853=) rs1555107393
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
NM_000051.4(ATM):c.5564A>C (p.Asn1855Thr)
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser) rs1565481878
NM_000051.4(ATM):c.5565T>C (p.Asn1855=) rs1565481888
NM_000051.4(ATM):c.5565T>G (p.Asn1855Lys) rs1565481888
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln) rs1465041573
NM_000051.4(ATM):c.556T>C (p.Leu186=) rs2079700064
NM_000051.4(ATM):c.5570C>T (p.Ser1857Leu)
NM_000051.4(ATM):c.5571A>G (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5571A>T (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg) rs2083597320
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5574G>A (p.Trp1858Ter) rs2135944112
NM_000051.4(ATM):c.5575A>G (p.Arg1859Gly) rs1565481925
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.5576G>T (p.Arg1859Ile) rs1060501568
NM_000051.4(ATM):c.5579A>G (p.Asn1860Ser) rs2083597981
NM_000051.4(ATM):c.557T>C (p.Leu186Ser) rs1555066388
NM_000051.4(ATM):c.557T>G (p.Leu186Ter) rs1555066388
NM_000051.4(ATM):c.5580T>A (p.Asn1860Lys) rs2083598099
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met) rs1314298685
NM_000051.4(ATM):c.5583G>C (p.Leu1861=) rs781383087
NM_000051.4(ATM):c.5583G>T (p.Leu1861=) rs781383087
NM_000051.4(ATM):c.5584C>G (p.Leu1862Val) rs149362482
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe) rs149362482
NM_000051.4(ATM):c.5585T>A (p.Leu1862His) rs1555107424
NM_000051.4(ATM):c.5585T>C (p.Leu1862Pro) rs1555107424
NM_000051.4(ATM):c.5586T>G (p.Leu1862=) rs1555107431
NM_000051.4(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.4(ATM):c.558A>C (p.Leu186Phe) rs991667156
NM_000051.4(ATM):c.558A>G (p.Leu186=) rs991667156
NM_000051.4(ATM):c.5591C>G (p.Thr1864Arg) rs779156037
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile) rs779156037
NM_000051.4(ATM):c.5592A>G (p.Thr1864=) rs1426095621
NM_000051.4(ATM):c.5592A>T (p.Thr1864=) rs1426095621
NM_000051.4(ATM):c.5593C>A (p.His1865Asn) rs567908537
NM_000051.4(ATM):c.5594A>G (p.His1865Arg) rs876659963
NM_000051.4(ATM):c.5594_5595del (p.His1865fs) rs1555107450
NM_000051.4(ATM):c.5595T>A (p.His1865Gln) rs772261410
NM_000051.4(ATM):c.5595T>G (p.His1865Gln) rs772261410
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly) rs2083600177
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys) rs2135944782
NM_000051.4(ATM):c.5599C>G (p.Gln1867Glu) rs2135944782
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
NM_000051.4(ATM):c.559G>A (p.Val187Met) rs1060501614
NM_000051.4(ATM):c.559G>T (p.Val187Leu) rs1060501614
NM_000051.4(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg) rs1555107457
NM_000051.4(ATM):c.5601G>A (p.Gln1867=) rs1555107464
NM_000051.4(ATM):c.5602G>A (p.Gly1868Arg) rs1565482078
NM_000051.4(ATM):c.5603G>A (p.Gly1868Glu) rs1565482084
NM_000051.4(ATM):c.5604A>C (p.Gly1868=)
NM_000051.4(ATM):c.5604A>G (p.Gly1868=)
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.4(ATM):c.5605T>G (p.Phe1869Val) rs975721205
NM_000051.4(ATM):c.5607T>G (p.Phe1869Leu)
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
NM_000051.4(ATM):c.5609dup (p.Thr1871fs) rs2083601046
NM_000051.4(ATM):c.5610C>T (p.Phe1870=) rs2083601271
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.5611A>G (p.Thr1871Ala)
NM_000051.4(ATM):c.5613C>G (p.Thr1871=) rs2083601650
NM_000051.4(ATM):c.5614A>G (p.Ser1872Gly) rs2135945114
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn) rs761257154
NM_000051.4(ATM):c.5615G>C (p.Ser1872Thr) rs761257154
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
NM_000051.4(ATM):c.5617T>A (p.Cys1873Ser) rs2083601964
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.4(ATM):c.5622T>C (p.Leu1874=) rs2135945293
NM_000051.4(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr) rs1060501567
NM_000051.4(ATM):c.5626_5641del (p.His1876fs)
NM_000051.4(ATM):c.5627A>G (p.His1876Arg) rs967371351
NM_000051.4(ATM):c.5628C>A (p.His1876Gln) rs1237700879
NM_000051.4(ATM):c.5628C>T (p.His1876=) rs1237700879
NM_000051.4(ATM):c.562G>T (p.Ala188Ser) rs1555066392
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
NM_000051.4(ATM):c.5631C>A (p.Phe1877Leu)
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5632T>C (p.Ser1878Pro)
NM_000051.4(ATM):c.5632_5635del (p.Ser1878fs) rs758852420
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.4(ATM):c.5637A>C (p.Gln1879His) rs587781993
NM_000051.4(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.4(ATM):c.5637_5638del (p.Gln1879fs)
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.4(ATM):c.563C>A (p.Ala188Asp) rs1555066393
NM_000051.4(ATM):c.563C>G (p.Ala188Gly) rs1555066393
NM_000051.4(ATM):c.5640G>T (p.Thr1880=) rs757103582
NM_000051.4(ATM):c.5642G>C (p.Ser1881Thr) rs2135945850
NM_000051.4(ATM):c.5644C>A (p.Arg1882=) rs786204433
NM_000051.4(ATM):c.5645G>C (p.Arg1882Pro) rs587782236
NM_000051.4(ATM):c.5645G>T (p.Arg1882Leu)
NM_000051.4(ATM):c.5648C>T (p.Ser1883Phe) rs2083605154
NM_000051.4(ATM):c.5649del (p.Thr1884fs) rs2083605298
NM_000051.4(ATM):c.564T>C (p.Ala188=) rs2135224096
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala) rs1555107562
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile) rs1565482352
NM_000051.4(ATM):c.5652A>G (p.Thr1884=) rs1591718571
NM_000051.4(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile) rs2083606342
NM_000051.4(ATM):c.5655C>A (p.Thr1885=)
NM_000051.4(ATM):c.5655C>G (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.5655C>T (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.5657del (p.Pro1886fs) rs2135946188
NM_000051.4(ATM):c.5658T>A (p.Pro1886=) rs940182945
NM_000051.4(ATM):c.5659G>A (p.Ala1887Thr) rs2083606754
NM_000051.4(ATM):c.565A>C (p.Arg189=) rs2079701086
NM_000051.4(ATM):c.565A>G (p.Arg189Gly) rs2079701086
NM_000051.4(ATM):c.5660C>G (p.Ala1887Gly) rs1297909613
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val) rs1297909613
NM_000051.4(ATM):c.5661A>T (p.Ala1887=) rs876658939
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met) rs746106249
NM_000051.4(ATM):c.5665T>G (p.Leu1889Val)
NM_000051.4(ATM):c.566G>A (p.Arg189Lys) rs79075295
NM_000051.4(ATM):c.5672C>T (p.Ser1891Leu) rs2135946592
NM_000051.4(ATM):c.5673A>G (p.Ser1891=) rs1555107607
NM_000051.4(ATM):c.5674+11A>T
NM_000051.4(ATM):c.5674+13A>G rs1555107618
NM_000051.4(ATM):c.5674+14T>A rs2083608444
NM_000051.4(ATM):c.5674+14T>C rs2083608444
NM_000051.4(ATM):c.5674+18del
NM_000051.4(ATM):c.5674+19A>C rs2135946949
NM_000051.4(ATM):c.5674+19A>G
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5674+20A>G
NM_000051.4(ATM):c.5674+7T>A rs1591718715
NM_000051.4(ATM):c.5674+7T>C
NM_000051.4(ATM):c.5674+8A>C rs1033110152
NM_000051.4(ATM):c.5674+8A>G rs1033110152
NM_000051.4(ATM):c.5674+9T>C
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
NM_000051.4(ATM):c.5675-10T>A rs377599533
NM_000051.4(ATM):c.5675-10T>C
NM_000051.4(ATM):c.5675-11T>C
NM_000051.4(ATM):c.5675-15A>G rs1565485867
NM_000051.4(ATM):c.5675-16T>A
NM_000051.4(ATM):c.5675-17A>C
NM_000051.4(ATM):c.5675-17A>G
NM_000051.4(ATM):c.5675-19A>G
NM_000051.4(ATM):c.5675-1G>C rs2135975662
NM_000051.4(ATM):c.5675-24_5699del
NM_000051.4(ATM):c.5675-2dup rs2135975648
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-5G>C rs1591731701
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp) rs2135975691
NM_000051.4(ATM):c.5677_5680del (p.Glu1894fs) rs2135975673
NM_000051.4(ATM):c.5678C>A (p.Ser1893Ter)
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)
NM_000051.4(ATM):c.567A>G (p.Arg189=) rs1555066398
NM_000051.4(ATM):c.567A>T (p.Arg189Ser) rs1555066398
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) rs1060501580
NM_000051.4(ATM):c.5682G>A (p.Glu1894=) rs2135975851
NM_000051.4(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.4(ATM):c.5683C>G (p.His1895Asp) rs766901049
NM_000051.4(ATM):c.5684A>C (p.His1895Pro) rs2135975923
NM_000051.4(ATM):c.5685C>T (p.His1895=) rs889445709
NM_000051.4(ATM):c.5686T>G (p.Phe1896Val) rs1565485959
NM_000051.4(ATM):c.568A>G (p.Ile190Val) rs1565369501
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys) rs587782516
NM_000051.4(ATM):c.5690del (p.Phe1897fs) rs1591731851
NM_000051.4(ATM):c.5691C>T (p.Phe1897=) rs1555109057
NM_000051.4(ATM):c.5695T>A (p.Cys1899Ser) rs373213507
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5697C>T (p.Cys1899=) rs753839301
NM_000051.4(ATM):c.5698T>G (p.Cys1900Gly) rs2083817433
NM_000051.4(ATM):c.5699G>C (p.Cys1900Ser) rs1591731972
NM_000051.4(ATM):c.56G>C (p.Arg19Thr) rs1064793029
NM_000051.4(ATM):c.5701T>C (p.Leu1901=) rs2135976467
NM_000051.4(ATM):c.5703G>A (p.Leu1901=) rs756979112
NM_000051.4(ATM):c.5703G>C (p.Leu1901Phe) rs756979112
NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe) rs756979112
NM_000051.4(ATM):c.5704G>A (p.Asp1902Asn) rs1565486050
NM_000051.4(ATM):c.5704G>T (p.Asp1902Tyr) rs1565486050
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly) rs1565486057
NM_000051.4(ATM):c.5705A>T (p.Asp1902Val)
NM_000051.4(ATM):c.5706del (p.Asp1902fs)
NM_000051.4(ATM):c.5706dup (p.Lys1903Ter)
NM_000051.4(ATM):c.5708A>G (p.Lys1903Arg) rs2083818567
NM_000051.4(ATM):c.5709A>G (p.Lys1903=) rs2135976714
NM_000051.4(ATM):c.5710A>T (p.Lys1904Ter)
NM_000051.4(ATM):c.5712A>G (p.Lys1904=) rs864622127
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter) rs2135976898
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg) rs1591732095
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs) rs1555109102
NM_000051.4(ATM):c.5719A>G (p.Arg1907Gly) rs2083819737
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5722A>G (p.Thr1908Ala)
NM_000051.4(ATM):c.5723C>G (p.Thr1908Arg) rs2135977089
NM_000051.4(ATM):c.5723C>T (p.Thr1908Ile) rs2135977089
NM_000051.4(ATM):c.5723del (p.Thr1908fs) rs2135977126
NM_000051.4(ATM):c.5724A>C (p.Thr1908=)
NM_000051.4(ATM):c.5724A>G (p.Thr1908=) rs2135977142
NM_000051.4(ATM):c.5726T>A (p.Met1909Lys) rs542378165
NM_000051.4(ATM):c.5726T>C (p.Met1909Thr) rs542378165
NM_000051.4(ATM):c.5726T>G (p.Met1909Arg) rs542378165
NM_000051.4(ATM):c.5727G>A (p.Met1909Ile) rs1555109119
NM_000051.4(ATM):c.5728C>G (p.Leu1910Val) rs143577586
NM_000051.4(ATM):c.5728C>T (p.Leu1910Phe) rs143577586
NM_000051.4(ATM):c.5729T>C (p.Leu1910Pro) rs2135977294
NM_000051.4(ATM):c.5731G>C (p.Ala1911Pro) rs2135977350
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu) rs1064794105
NM_000051.4(ATM):c.5736T>C (p.Val1912=) rs1060504302
NM_000051.4(ATM):c.5736dup (p.Val1913fs) rs2135977494
NM_000051.4(ATM):c.5737_5743del (p.Val1913fs) rs2135977542
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly) rs1060501688
NM_000051.4(ATM):c.573T>G (p.Ile191Met) rs775003417
NM_000051.4(ATM):c.5741A>G (p.Asp1914Gly)
NM_000051.4(ATM):c.5741del (p.Asp1914fs) rs2083821626
NM_000051.4(ATM):c.5743T>C (p.Tyr1915His) rs2135977706
NM_000051.4(ATM):c.5745C>A (p.Tyr1915Ter)
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.4(ATM):c.5746A>T (p.Met1916Leu) rs910274159
NM_000051.4(ATM):c.5748G>A (p.Met1916Ile) rs2083822362
NM_000051.4(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle) rs876659524
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly) rs2083822627
NM_000051.4(ATM):c.574C>A (p.His192Asn) rs587780629
NM_000051.4(ATM):c.574C>G (p.His192Asp) rs587780629
NM_000051.4(ATM):c.574C>T (p.His192Tyr) rs587780629
NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys) rs377289524
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)
NM_000051.4(ATM):c.5755C>A (p.Gln1919Lys)
NM_000051.4(ATM):c.5755C>G (p.Gln1919Glu) rs2083823146
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter) rs2083823146
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro) rs1565486302
NM_000051.4(ATM):c.5757A>G (p.Gln1919=) rs1555109182
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.4(ATM):c.5759A>G (p.Lys1920Arg) rs2135978116
NM_000051.4(ATM):c.575A>G (p.His192Arg) rs1555066411
NM_000051.4(ATM):c.575A>T (p.His192Leu)
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5762+10T>C rs1276744102
NM_000051.4(ATM):c.5762+11G>A
NM_000051.4(ATM):c.5762+11G>C rs2135978459
NM_000051.4(ATM):c.5762+12A>C rs2135978517
NM_000051.4(ATM):c.5762+13G>A
NM_000051.4(ATM):c.5762+16T>C
NM_000051.4(ATM):c.5762+18G>A
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5762+20T>C rs2135978759
NM_000051.4(ATM):c.5762+21del
NM_000051.4(ATM):c.5762+3A>T
NM_000051.4(ATM):c.5762+3_5762+4del
NM_000051.4(ATM):c.5762+7_5762+11del
NM_000051.4(ATM):c.5762+8A>C rs2083824504
NM_000051.4(ATM):c.5762+9A>G rs1565486371
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.576T>G (p.His192Gln) rs2079702502
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.577G>A (p.Ala193Thr) rs876659832
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.578C>G (p.Ala193Gly) rs1064793928
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.581T>C (p.Val194Ala) rs2135224694
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.584C>A (p.Thr195Asn)
NM_000051.4(ATM):c.584C>T (p.Thr195Ile) rs1196611507
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.585C>G (p.Thr195=) rs2135224869
NM_000051.4(ATM):c.585C>T (p.Thr195=)
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.586A>C (p.Lys196Gln) rs2079703283
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.587A>G (p.Lys196Arg)
NM_000051.4(ATM):c.587_602del (p.Lys196fs) rs2135224893
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.588A>G (p.Lys196=) rs2135224945
NM_000051.4(ATM):c.588del (p.Gly197fs) rs1057516683
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.589G>A (p.Gly197Arg) rs764080545
NM_000051.4(ATM):c.58G>A (p.Ala20Thr) rs1555053946
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.590G>T (p.Gly197Val) rs753806542
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.591A>G (p.Gly197=) rs587780630
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.594C>G (p.Cys198Trp) rs1591500282
NM_000051.4(ATM):c.594C>T (p.Cys198=) rs1591500282
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.595T>C (p.Cys199Arg) rs1591500295
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.596G>A (p.Cys199Tyr) rs879254127
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.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.597T>C (p.Cys199=) rs1565369633
NM_000051.4(ATM):c.597T>G (p.Cys199Trp) rs1565369633
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.599C>G (p.Ser200Cys) rs1060501562
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
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.600T>G (p.Ser200=) rs2135225298
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.601C>T (p.Gln201Ter) rs886039666
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.605C>T (p.Thr202Ile) rs1555066438
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.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.4(ATM):c.606_615dup (p.Asn206Ter)
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.607G>A (p.Asp203Asn) rs1591500372
NM_000051.4(ATM):c.607del (p.Asp203fs) rs2135225618
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.60T>C (p.Ala20=)
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.610G>T (p.Gly204Ter) rs147915571
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.612A>G (p.Gly204=) rs878853527
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.614T>C (p.Leu205Ser)
NM_000051.4(ATM):c.614T>G (p.Leu205Ter) rs2079705608
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.615A>G (p.Leu205=) rs1555066455
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.616A>C (p.Asn206His) rs587781829
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.61A>C (p.Thr21Pro)
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
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.620C>G (p.Ser207Cys) rs876660296
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.621C>T (p.Ser207=)
NM_000051.4(ATM):c.621del (p.Lys208fs) rs2079706212
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.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.622A>T (p.Lys208Ter)
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.623A>G (p.Lys208Arg) rs2135226282
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.627T>C (p.Phe209=)
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.628T>C (p.Leu210=) rs1555066477
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.629T>C (p.Leu210Ser) rs2079706543
NM_000051.4(ATM):c.62C>A (p.Thr21Lys)
NM_000051.4(ATM):c.62C>G (p.Thr21Arg)
NM_000051.4(ATM):c.62C>T (p.Thr21Ile) rs1442769051
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.630G>A (p.Leu210=) rs1565369739
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.631G>A (p.Asp211Asn) rs1555066481
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.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.633C>T (p.Asp211=) rs1060501634
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.635T>C (p.Phe212Ser) rs1591500544
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.636T>C (p.Phe212=) rs1555066499
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.639T>C (p.Phe213=) rs2135226818
NM_000051.4(ATM):c.63A>G (p.Thr21=) rs199853729
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.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
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.642C>T (p.Ser214=) rs1555066521
NM_000051.4(ATM):c.642del (p.Lys215fs) rs876660315
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.643A>G (p.Lys215Glu) rs2079708238
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.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
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.645G>A (p.Lys215=) rs2079708544
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.646G>T (p.Ala216Ser) rs2235002
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.647C>T (p.Ala216Val) rs2135227079
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.648T>A (p.Ala216=) rs770270310
NM_000051.4(ATM):c.648T>C (p.Ala216=) rs770270310
NM_000051.4(ATM):c.648T>G (p.Ala216=) rs770270310
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.649A>C (p.Ile217Leu) rs547045780
NM_000051.4(ATM):c.649A>T (p.Ile217Phe) rs547045780
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.64G>A (p.Glu22Lys)
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.652C>T (p.Gln218Ter) rs1555066551
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.653A>C (p.Gln218Pro) rs1198686265
NM_000051.4(ATM):c.653A>G (p.Gln218Arg) rs1198686265
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.657_658inv (p.Ala220Thr)
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.658G>A (p.Ala220Thr) rs2135227395
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
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.659C>A (p.Ala220Glu)
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.660G>C (p.Ala220=)
NM_000051.4(ATM):c.660G>T (p.Ala220=) rs763669136
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.661A>G (p.Arg221Gly) rs2135227474
NM_000051.4(ATM):c.662+13_662+14del rs1064795370
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.662+2T>C
NM_000051.4(ATM):c.662+3A>C
NM_000051.4(ATM):c.662+3A>G rs2135227609
NM_000051.4(ATM):c.662+4A>G rs1555066570
NM_000051.4(ATM):c.662+5T>C rs2079711059
NM_000051.4(ATM):c.662+6C>G rs1565369978
NM_000051.4(ATM):c.662+7T>C rs2135227769
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.662+8_662+9dup rs1591500816
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.662G>A (p.Arg221Lys) rs776349773
NM_000051.4(ATM):c.663-10T>C rs2135236361
NM_000051.4(ATM):c.663-12G>C rs2135236291
NM_000051.4(ATM):c.663-12_663-9del
NM_000051.4(ATM):c.663-13T>C
NM_000051.4(ATM):c.663-15T>C
NM_000051.4(ATM):c.663-16G>A rs2079751648
NM_000051.4(ATM):c.663-16G>C
NM_000051.4(ATM):c.663-18T>C rs2135236192
NM_000051.4(ATM):c.663-20G>A
NM_000051.4(ATM):c.663-20G>C rs1555066898
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-2A>T
NM_000051.4(ATM):c.663-2del
NM_000051.4(ATM):c.663-3C>G rs2079752506
NM_000051.4(ATM):c.663-3C>T rs2079752506
NM_000051.4(ATM):c.663-5C>A rs1591503207
NM_000051.4(ATM):c.663-5C>T rs1591503207
NM_000051.4(ATM):c.663-6T>A rs1555066907
NM_000051.4(ATM):c.663-7T>C rs2135236482
NM_000051.4(ATM):c.663-8C>G
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.663A>G (p.Arg221=) rs1555066913
NM_000051.4(ATM):c.663A>T (p.Arg221Ser) rs1555066913
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.664C>G (p.Gln222Glu) rs1555066917
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
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.665A>G (p.Gln222Arg)
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.666A>G (p.Gln222=)
NM_000051.4(ATM):c.666del (p.Glu223fs) rs2135236778
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.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.66del (p.Glu22fs) rs2135006691
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.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.672G>C (p.Lys224Asn) rs769731317
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.673A>C (p.Ser225Arg) rs2079753846
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.675C>A (p.Ser225Arg) rs1555066940
NM_000051.4(ATM):c.675C>T (p.Ser225=) rs1555066940
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.677C>G (p.Ser226Cys)
NM_000051.4(ATM):c.677C>T (p.Ser226Phe) rs2079754211
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.678T>C (p.Ser226=) rs2135237178
NM_000051.4(ATM):c.678T>G (p.Ser226=) rs2135237178
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.67C>A (p.Arg23=) rs746235533
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
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.680C>G (p.Ser227Ter) rs762998620
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer) rs879254070
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.681dup (p.Gly228fs) rs1591503359
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.683G>A (p.Gly228Asp) rs2079754821
NM_000051.4(ATM):c.683G>C (p.Gly228Ala) rs2079754821
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.684T>C (p.Gly228=) rs1591503368
NM_000051.4(ATM):c.684T>G (p.Gly228=)
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.687A>C (p.Leu229=) rs3218706
NM_000051.4(ATM):c.687A>G (p.Leu229=) rs3218706
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.689A>G (p.Asn230Ser) rs876659494
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.68G>C (p.Arg23Pro) rs587779858
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.691C>G (p.His231Asp) rs1460757633
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.692A>C (p.His231Pro) rs587782229
NM_000051.4(ATM):c.692A>T (p.His231Leu) rs587782229
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.693T>C (p.His231=) rs1555066993
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.694A>G (p.Ile232Val) rs767739747
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.695T>A (p.Ile232Asn)
NM_000051.4(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.4(ATM):c.695T>G (p.Ile232Ser) rs786203502
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.696C>G (p.Ile232Met) rs1591503507
NM_000051.4(ATM):c.696C>T (p.Ile232=) rs1591503507
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.699A>G (p.Leu233=) rs1555067006
NM_000051.4(ATM):c.699A>T (p.Leu233Phe) rs1555067006
NM_000051.4(ATM):c.6T>A (p.Ser2Arg) rs748158168
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.700G>T (p.Ala234Ser)
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.701C>T (p.Ala234Val)
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.703G>C (p.Ala235Pro) rs76379269
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
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.704del (p.Ala235fs) rs1591503565
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.705T>C (p.Ala235=) rs756175724
NM_000051.4(ATM):c.705T>G (p.Ala235=) rs756175724
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.706C>G (p.Leu236Val) rs886042866
NM_000051.4(ATM):c.706C>T (p.Leu236Phe) rs886042866
NM_000051.4(ATM):c.706dup (p.Leu236fs) rs2135238203
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.707T>A (p.Leu236His) rs876659813
NM_000051.4(ATM):c.707T>G (p.Leu236Arg) rs876659813
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.709A>T (p.Thr237Ser) rs376529329
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
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.710C>T (p.Thr237Ile)
NM_000051.4(ATM):c.710_721del (p.Thr237_Leu240del)
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
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.711T>C (p.Thr237=) rs1294159555
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.712A>T (p.Ile238Phe)
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)
NM_000051.4(ATM):c.713T>A (p.Ile238Asn) rs149116878
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.716del (p.Phe239fs) rs2079758855
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.717_720del (p.Phe239fs) rs587782660
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.719T>G (p.Leu240Arg) rs876658753
NM_000051.4(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.4(ATM):c.72+12C>T
NM_000051.4(ATM):c.72+12_72+15del rs2135007520
NM_000051.4(ATM):c.72+15A>C
NM_000051.4(ATM):c.72+17A>G rs2135007789
NM_000051.4(ATM):c.72+19T>A rs776457787
NM_000051.4(ATM):c.72+19T>C
NM_000051.4(ATM):c.72+1G>T rs786204088
NM_000051.4(ATM):c.72+1del
NM_000051.4(ATM):c.72+20C>A rs1555053997
NM_000051.4(ATM):c.72+20C>G rs1555053997
NM_000051.4(ATM):c.72+20C>T rs1555053997
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.72+2del rs1555053972
NM_000051.4(ATM):c.72+3A>C rs2135007098
NM_000051.4(ATM):c.72+4G>A rs1458884973
NM_000051.4(ATM):c.72+7A>G
NM_000051.4(ATM):c.72+7A>T
NM_000051.4(ATM):c.72+8A>G rs2135007393
NM_000051.4(ATM):c.72+8del
NM_000051.4(ATM):c.72+9T>C rs2135007450
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.720C>T (p.Leu240=) rs1254593530
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.724A>G (p.Thr242Ala) rs1555067068
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.725C>A (p.Thr242Asn) rs2135238871
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.726T>C (p.Thr242=) rs1555067070
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.728dup (p.Leu243fs) rs2135238938
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.729_741del (p.Leu243fs) rs2079760023
NM_000051.4(ATM):c.72G>A (p.Lys24=)
NM_000051.4(ATM):c.72G>C (p.Lys24Asn)
NM_000051.4(ATM):c.73-11T>A rs2135009950
NM_000051.4(ATM):c.73-12T>C rs2078815559
NM_000051.4(ATM):c.73-14C>T
NM_000051.4(ATM):c.73-18T>G
NM_000051.4(ATM):c.73-1G>A rs1555054043
NM_000051.4(ATM):c.73-1G>C
NM_000051.4(ATM):c.73-2A>G
NM_000051.4(ATM):c.73-3C>G rs1555054039
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.73-3del rs1565344403
NM_000051.4(ATM):c.73-4T>G rs1565344387
NM_000051.4(ATM):c.73-9T>A rs1591446620
NM_000051.4(ATM):c.73-9T>C rs1591446620
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.730G>A (p.Ala244Thr) rs2079760518
NM_000051.4(ATM):c.730G>C (p.Ala244Pro) rs2079760518
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.732T>A (p.Ala244=) rs2135239123
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.733G>A (p.Val245Ile) rs1555067081
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.735C>G (p.Val245=) rs3218674
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.737A>C (p.Asn246Thr) rs781023264
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.737_738insAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGACTTTGGCTGTCAA (p.Asn246fs)
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.738C>T (p.Asn246=)
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.739T>A (p.Phe247Ile) rs2135239339
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
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.741T>C (p.Phe247=) rs876659081
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.742C>G (p.Arg248Gly)
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.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
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.744A>C (p.Arg248=) rs1591503905
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.745A>G (p.Ile249Val) rs1060501636
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.748C>T (p.Arg250Ter) rs772821016
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.749G>C (p.Arg250Pro) rs56123940
NM_000051.4(ATM):c.74A>G (p.Lys25Arg) rs751310537
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.750A>C (p.Arg250=)
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
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.751G>A (p.Val251Met) rs1057519145
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.752T>C (p.Val251Ala) rs1591503977
NM_000051.4(ATM):c.752T>G (p.Val251Gly) rs1591503977
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.753del (p.Cys252fs) rs2135239839
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.756T>C (p.Cys252=) rs2079762952
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
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.757G>A (p.Glu253Lys) rs2135239944
NM_000051.4(ATM):c.757G>T (p.Glu253Ter)
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.758A>G (p.Glu253Gly) rs2079763142
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.759A>G (p.Glu253=) rs2135239992
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
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.763G>A (p.Gly255Arg)
NM_000051.4(ATM):c.763G>C (p.Gly255Arg) rs770911662
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.764_766del (p.Gly255del) rs766716803
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.765A>C (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.765A>G (p.Gly255=) rs1591504056
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.766G>A (p.Asp256Asn) rs2079764061
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr) rs2079764061
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.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.767A>G (p.Asp256Gly) rs907941927
NM_000051.4(ATM):c.767A>T (p.Asp256Val) rs907941927
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.769G>C (p.Glu257Gln) rs1565371596
NM_000051.4(ATM):c.769G>T (p.Glu257Ter) rs1565371596
NM_000051.4(ATM):c.76G>T (p.Glu26Ter)
NM_000051.4(ATM):c.76_79del (p.Glu26fs) rs2078816952
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.771A>C (p.Glu257Asp)
NM_000051.4(ATM):c.771A>G (p.Glu257=) rs786201068
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.775C>T (p.Leu259Phe)
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.776T>C (p.Leu259Pro)
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.777T>A (p.Leu259=)
NM_000051.4(ATM):c.777T>C (p.Leu259=) rs2135240556
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.778C>A (p.Pro260Thr) rs863224581
NM_000051.4(ATM):c.778C>G (p.Pro260Ala) rs863224581
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.779C>A (p.Pro260His) rs961262202
NM_000051.4(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.4(ATM):c.77A>G (p.Glu26Gly) rs1555054052
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.781A>T (p.Thr261Ser) rs786203410
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.782C>G (p.Thr261Ser)
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.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.785T>C (p.Leu262Ser) rs864622163
NM_000051.4(ATM):c.785T>G (p.Leu262Trp) rs864622163
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.788T>A (p.Leu263His) rs2079765536
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
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.78A>G (p.Glu26=) rs786202953
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.790T>C (p.Tyr264His)
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
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.792T>C (p.Tyr264=)
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.793A>G (p.Ile265Val) rs587781973
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.795T>A (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.795T>C (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
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.798G>A (p.Trp266Ter) rs2079766417
NM_000051.4(ATM):c.798G>T (p.Trp266Cys) rs2079766417
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.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.79G>C (p.Val27Leu) rs754770960
NM_000051.4(ATM):c.79G>T (p.Val27Phe) rs754770960
NM_000051.4(ATM):c.7C>T (p.Leu3=)
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.800C>T (p.Thr267Ile)
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.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs) rs2086671320
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.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.805_808dup (p.Arg270delinsThrTer)
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.806A>G (p.His269Arg) rs1565371740
NM_000051.4(ATM):c.806A>T (p.His269Leu)
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.807T>G (p.His269Gln) rs2135241561
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.808A>G (p.Arg270Gly) rs2135241589
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.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.80T>A (p.Val27Asp) rs2078817440
NM_000051.4(ATM):c.80T>C (p.Val27Ala) rs2078817440
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.810G>C (p.Arg270Ser) rs1565371772
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.811C>G (p.Leu271Val) rs730881339
NM_000051.4(ATM):c.811C>T (p.Leu271Phe) rs730881339
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.812T>C (p.Leu271Pro)
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
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.814A>C (p.Asn272His) rs1565371810
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
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.8152-2A>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.815A>G (p.Asn272Ser) rs1555067189
NM_000051.4(ATM):c.815A>T (p.Asn272Ile) rs1555067189
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.81T>G (p.Val27=) rs2135010830
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.820T>G (p.Ser274Ala) rs2079767927
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.821C>A (p.Ser274Tyr)
NM_000051.4(ATM):c.821C>G (p.Ser274Cys) rs1591504377
NM_000051.4(ATM):c.821C>T (p.Ser274Phe) rs1591504377
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.823T>C (p.Leu275=)
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.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTATGATTCTTT (p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuTer) rs2135241864
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
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.825A>T (p.Leu275Phe) rs2135242080
NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer) rs1591504396
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.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.826A>C (p.Lys276Gln) rs587782902
NM_000051.4(ATM):c.826A>G (p.Lys276Glu) rs587782902
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.828del (p.Glu277fs)
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.829del (p.Glu277fs)
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.830A>G (p.Glu277Gly) rs2079768905
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.832G>A (p.Val278Ile) rs761005590
NM_000051.4(ATM):c.832G>T (p.Val278Phe) rs761005590
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.834C>G (p.Val278=) rs2079769316
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.835A>G (p.Ile279Val) rs1555067210
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
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.837T>A (p.Ile279=) rs2135242369
NM_000051.4(ATM):c.837T>C (p.Ile279=) rs2135242369
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.838A>G (p.Ile280Val) rs764048041
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.841G>A (p.Glu281Lys) rs1591504491
NM_000051.4(ATM):c.841G>T (p.Glu281Ter) rs1591504491
NM_000051.4(ATM):c.841_845del (p.Glu281fs)
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.844T>C (p.Leu282=) rs1565371944
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.846A>G (p.Leu282=) rs754008850
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
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.847T>G (p.Phe283Val) rs1591504549
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.849T>A (p.Phe283Leu) rs1060501617
NM_000051.4(ATM):c.84G>A (p.Glu28=) rs1591446775
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.850C>T (p.Gln284Ter) rs757782702
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.852A>T (p.Gln284His) rs140367473
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.854T>C (p.Leu285Pro) rs864622605
NM_000051.4(ATM):c.854T>G (p.Leu285Arg) rs864622605
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.855G>A (p.Leu285=) rs863224299
NM_000051.4(ATM):c.855G>C (p.Leu285=) rs863224299
NM_000051.4(ATM):c.855_856delinsCT (p.Gln286Ter) rs2079771517
NM_000051.4(ATM):c.855del (p.Gln286fs) rs1555067251
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.856C>A (p.Gln286Lys)
NM_000051.4(ATM):c.856C>T (p.Gln286Ter) rs2135242925
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.857A>C (p.Gln286Pro) rs1591504622
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.863A>G (p.Tyr288Cys)
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.864T>C (p.Tyr288=)
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer) rs1565372075
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.865A>C (p.Ile289Leu) rs1555067259
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
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.866T>C (p.Ile289Thr) rs35261362
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.867C>A (p.Ile289=)
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.868C>A (p.His290Asn) rs1591504685
NM_000051.4(ATM):c.868C>T (p.His290Tyr) rs1591504685
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.869A>C (p.His290Pro) rs2135243301
NM_000051.4(ATM):c.869A>G (p.His290Arg) rs2135243301
NM_000051.4(ATM):c.869ATC[1] (p.His291del) rs2135243288
NM_000051.4(ATM):c.86_89del (p.Lys29fs)
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.870T>G (p.His290Gln)
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.871C>G (p.His291Asp) rs1555067280
NM_000051.4(ATM):c.871C>T (p.His291Tyr)
NM_000051.4(ATM):c.871del (p.His291fs)
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.872A>G (p.His291Arg) rs1555067285
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.873T>C (p.His291=) rs1591504717
NM_000051.4(ATM):c.873del (p.Pro292fs)
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.874C>T (p.Pro292Ser)
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.875C>G (p.Pro292Arg) rs747727055
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.876G>T (p.Pro292=) rs755860432
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.877A>T (p.Lys293Ter) rs1057516442
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.879A>G (p.Lys293=) rs864622069
NM_000051.4(ATM):c.87A>G (p.Lys29=) rs1591446799
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.881G>A (p.Gly294Glu) rs1370428326
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.884C>T (p.Ala295Val) rs1044092081
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.885C>T (p.Ala295=) rs2135243805
NM_000051.4(ATM):c.885del (p.Thr297fs)
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.886A>G (p.Lys296Glu) rs1591504793
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.887A>G (p.Lys296Arg) rs1064795297
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.888A>C (p.Lys296Asn) rs1023530965
NM_000051.4(ATM):c.888A>G (p.Lys296=) rs1023530965
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.88T>A (p.Phe30Ile) rs2078817952
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.891C>G (p.Thr297=) rs575285986
NM_000051.4(ATM):c.891C>T (p.Thr297=)
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.892C>T (p.Gln298Ter) rs2079775247
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.893A>C (p.Gln298Pro) rs2079775401
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.894A>G (p.Gln298=)
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.896A>G (p.Glu299Gly) rs587779876
NM_000051.4(ATM):c.896A>T (p.Glu299Val) rs587779876
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.897A>G (p.Glu299=) rs2135244327
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.89T>A (p.Phe30Tyr) rs876658520
NM_000051.4(ATM):c.89T>G (p.Phe30Cys) rs876658520
NM_000051.4(ATM):c.8T>C (p.Leu3Pro) rs1555053861
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
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.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.900dup (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+10A>T rs2135244818
NM_000051.4(ATM):c.901+11A>T
NM_000051.4(ATM):c.901+14G>A rs2079777585
NM_000051.4(ATM):c.901+15T>A rs2135244985
NM_000051.4(ATM):c.901+17T>A
NM_000051.4(ATM):c.901+17T>C rs774302699
NM_000051.4(ATM):c.901+18A>G rs1555067368
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+20T>C rs2135245162
NM_000051.4(ATM):c.901+2T>G
NM_000051.4(ATM):c.901+2delinsAA rs1555067355
NM_000051.4(ATM):c.901+3A>G rs786203070
NM_000051.4(ATM):c.901+3A>T rs786203070
NM_000051.4(ATM):c.901+4T>A
NM_000051.4(ATM):c.901+4T>G rs1591504958
NM_000051.4(ATM):c.901+6A>C rs1555067357
NM_000051.4(ATM):c.901+7A>C
NM_000051.4(ATM):c.901+8G>A rs1468806933
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.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.901G>C (p.Gly301Arg) rs1064797160
NM_000051.4(ATM):c.902-10T>C rs2135264378
NM_000051.4(ATM):c.902-15T>C rs2135264272
NM_000051.4(ATM):c.902-17A>T
NM_000051.4(ATM):c.902-18T>C
NM_000051.4(ATM):c.902-1G>A rs1064793518
NM_000051.4(ATM):c.902-20T>G
NM_000051.4(ATM):c.902-2A>G rs2079877131
NM_000051.4(ATM):c.902-3C>A
NM_000051.4(ATM):c.902-3C>T
NM_000051.4(ATM):c.902-7A>G rs2135264458
NM_000051.4(ATM):c.902-8G>T
NM_000051.4(ATM):c.902-9G>A
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.902G>T (p.Gly301Val) rs202208861
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.903T>A (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>G (p.Gly301=) rs876659335
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.905C>T (p.Ala302Val) rs778442248
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.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.907dup (p.Tyr303fs)
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.908A>G (p.Tyr303Cys)
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.909T>C (p.Tyr303=) rs1555068288
NM_000051.4(ATM):c.90del (p.Phe30fs) rs2135011143
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.911A>C (p.Glu304Ala) rs2135264712
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.912A>C (p.Glu304Asp)
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.914C>G (p.Ser305Ter)
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
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.915A>C (p.Ser305=)
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.916A>G (p.Thr306Ala) rs1555068304
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
NM_000051.4(ATM):c.917C>A (p.Thr306Lys) rs1565374923
NM_000051.4(ATM):c.917C>T (p.Thr306Ile) rs1565374923
NM_000051.4(ATM):c.920_921del (p.Lys307fs) rs2135264840
NM_000051.4(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.4(ATM):c.922T>A (p.Trp308Arg) rs2079878501
NM_000051.4(ATM):c.922T>C (p.Trp308Arg) rs2079878501
NM_000051.4(ATM):c.925A>C (p.Arg309=) rs876659841
NM_000051.4(ATM):c.925A>G (p.Arg309Gly) rs876659841
NM_000051.4(ATM):c.925A>T (p.Arg309Ter)
NM_000051.4(ATM):c.926G>A (p.Arg309Lys)
NM_000051.4(ATM):c.926G>T (p.Arg309Ile)
NM_000051.4(ATM):c.927A>C (p.Arg309Ser)
NM_000051.4(ATM):c.927A>G (p.Arg309=) rs935834518
NM_000051.4(ATM):c.927A>T (p.Arg309Ser) rs935834518
NM_000051.4(ATM):c.928A>C (p.Ser310Arg)
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.4(ATM):c.929G>A (p.Ser310Asn) rs2079879169
NM_000051.4(ATM):c.929del (p.Ser310fs) rs1591510597
NM_000051.4(ATM):c.932T>C (p.Ile311Thr) rs1462079674
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTT (p.Leu312fs)
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT (p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaSerAlaArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaLeu) rs2079879604
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.939C>T (p.Tyr313=) rs1387179773
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.4(ATM):c.940A>C (p.Asn314His) rs2079880133
NM_000051.4(ATM):c.941A>G (p.Asn314Ser) rs886047610
NM_000051.4(ATM):c.943T>C (p.Leu315=)
NM_000051.4(ATM):c.944del (p.Leu315fs) rs1565375035
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn) rs142317485
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer) rs2135265742
NM_000051.4(ATM):c.947_951del (p.Tyr316fs) rs1565375055
NM_000051.4(ATM):c.948T>C (p.Tyr316=) rs775091961
NM_000051.4(ATM):c.949G>C (p.Asp317His)
NM_000051.4(ATM):c.949G>T (p.Asp317Tyr) rs1445292591
NM_000051.4(ATM):c.94C>A (p.Arg32Ser) rs148061139
NM_000051.4(ATM):c.951T>C (p.Asp317=)
NM_000051.4(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.4(ATM):c.953T>G (p.Leu318Arg)
NM_000051.4(ATM):c.954_956del (p.Leu319del) rs2135266014
NM_000051.4(ATM):c.956T>C (p.Leu319Pro)
NM_000051.4(ATM):c.957A>G (p.Leu319=) rs1060501542
NM_000051.4(ATM):c.959T>A (p.Val320Glu)
NM_000051.4(ATM):c.95G>T (p.Arg32Leu) rs368161489
NM_000051.4(ATM):c.961A>G (p.Asn321Asp) rs1591510765
NM_000051.4(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.4(ATM):c.963T>C (p.Asn321=) rs863224301
NM_000051.4(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_000051.4(ATM):c.966G>A (p.Glu322=)
NM_000051.4(ATM):c.967del (p.Glu322_Ile323insTer) rs2135266498
NM_000051.4(ATM):c.968T>A (p.Ile323Lys) rs2079882407
NM_000051.4(ATM):c.968T>G (p.Ile323Arg) rs2079882407
NM_000051.4(ATM):c.969A>G (p.Ile323Met) rs1565375220
NM_000051.4(ATM):c.96C>T (p.Arg32=) rs1305090923
NM_000051.4(ATM):c.971G>A (p.Ser324Asn) rs1355502804
NM_000051.4(ATM):c.972_979del (p.Ser324fs) rs2135266573
NM_000051.4(ATM):c.974A>C (p.His325Pro) rs1565375244
NM_000051.4(ATM):c.974A>G (p.His325Arg) rs1565375244
NM_000051.4(ATM):c.974A>T (p.His325Leu) rs1565375244
NM_000051.4(ATM):c.975T>A (p.His325Gln) rs746825207
NM_000051.4(ATM):c.975T>C (p.His325=) rs746825207
NM_000051.4(ATM):c.976A>G (p.Ile326Val) rs1555068422
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
NM_000051.4(ATM):c.978A>G (p.Ile326Met) rs1555068424
NM_000051.4(ATM):c.978del (p.Ile326fs) rs1565375308
NM_000051.4(ATM):c.979G>A (p.Gly327Arg)
NM_000051.4(ATM):c.980G>A (p.Gly327Glu) rs1591510902
NM_000051.4(ATM):c.980del (p.Gly327fs) rs1331064724
NM_000051.4(ATM):c.982A>C (p.Ser328Arg) rs1555068433
NM_000051.4(ATM):c.982A>G (p.Ser328Gly) rs1555068433
NM_000051.4(ATM):c.983G>A (p.Ser328Asn) rs2135267189
NM_000051.4(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.4(ATM):c.985A>G (p.Arg329Gly) rs1591510933
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.4(ATM):c.986G>C (p.Arg329Thr) rs776938735
NM_000051.4(ATM):c.986G>T (p.Arg329Ile)
NM_000051.4(ATM):c.987A>G (p.Arg329=) rs2079884541
NM_000051.4(ATM):c.988G>A (p.Gly330Arg) rs2135267332
NM_000051.4(ATM):c.989G>A (p.Gly330Glu) rs762179829
NM_000051.4(ATM):c.98T>C (p.Leu33Pro) rs2078818941
NM_000051.4(ATM):c.991A>G (p.Lys331Glu) rs1555068451
NM_000051.4(ATM):c.992A>T (p.Lys331Met) rs2079885179
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4(ATM):c.993G>T (p.Lys331Asn) rs786202048
NM_000051.4(ATM):c.995A>G (p.Tyr332Cys) rs1060501664
NM_000051.4(ATM):c.995A>T (p.Tyr332Phe) rs1060501664
NM_000051.4(ATM):c.99G>C (p.Leu33=)
NM_000051.4(ATM):c.9A>G (p.Leu3=) rs1555053869
NM_000051.4:c.(331+1_332-1)_(496+1_497-1)del
NM_000051.4:c.7387_7388insAluYk11
NM_001330368.2(C11orf65):c.641-3340_641-3338dup
NM_001330368.2(C11orf65):c.641-34150del rs1555135341
NM_001330368.2(C11orf65):c.641-36671del rs2137023331
NM_001330368.2(C11orf65):c.641-6751dup rs1555113505
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
Single allele
c.2249ins9
c.2639del200nt
c.3802delG
c.7271T>G
c.8313-2A>C

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