ClinVar Miner

List of variants in gene ATM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9979
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2250+221T>C rs626434 0.99342
NM_000051.4(ATM):c.2467-123T>A rs642496 0.66834
NM_000051.4(ATM):c.496+221C>T rs623860 0.65254
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
NM_000051.4(ATM):c.1066-294A>G rs694799 0.54303
NM_000051.4(ATM):c.3993+197G>A rs654005 0.53271
NM_000051.4(ATM):c.2839-882C>T rs637064 0.52086
NM_000051.4(ATM):c.3576+687C>T rs1003623 0.52044
NM_000051.4(ATM):c.3994-193T>C rs609261 0.52017
NM_000051.4(ATM):c.4611+213A>G rs600329 0.51800
NM_000051.4(ATM):c.3402+329A>T rs11212579 0.51788
NM_000051.4(ATM):c.4777-247C>G rs582297 0.51607
NM_000051.4(ATM):c.4777-248G>A rs680113 0.51603
NM_000051.4(ATM):c.5006-170G>A rs1150203 0.49646
NM_000051.4(ATM):c.1899-242G>A rs172927 0.49506
NM_000051.4(ATM):c.2377-56A>G rs672655 0.48759
NM_000051.4(ATM):c.2839-90G>T rs651030 0.35293
NM_000051.4(ATM):c.72+37_72+38del rs2066734 0.35257
NM_000051.4(ATM):c.2839-657G>A rs228593 0.26770
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.497-174A>G rs75305266 0.06704
NM_000051.4(ATM):c.901+25T>G rs1800735 0.06260
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.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.1899-55T>G rs4987951 0.03178
NM_000051.4(ATM):c.-30-79A>G rs3218693 0.03017
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.3994-97G>A rs4988000 0.02844
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.662+38T>C rs2235004 0.02706
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.332-71A>G rs2234996 0.02496
NM_000051.4(ATM):c.4910-156T>A rs56161469 0.02390
NM_000051.4(ATM):c.1065+278C>T rs4987929 0.02388
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.497-48T>G rs2235001 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.2638+85G>T rs73561600 0.01931
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.332-158del rs199858304 0.01605
NM_000051.4(ATM):c.1802+65T>C rs4987946 0.01593
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_000051.4(ATM):c.2125-68T>C rs2235008 0.01573
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.2124+303A>C rs4987953 0.01539
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.-30-180C>T rs4987897 0.01399
NM_000051.4(ATM):c.1803-154G>A rs55760417 0.01396
NM_000051.4(ATM):c.1236-193C>T rs4987942 0.01394
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.5496+294T>A rs4988040 0.01393
NM_000051.4(ATM):c.5178-150T>C rs4988035 0.01391
NM_000051.4(ATM):c.3403-34T>A rs148368017 0.01280
NM_000051.4(ATM):c.185+246T>A rs4987899 0.01239
NM_000051.4(ATM):c.185+616T>C rs4987905 0.01235
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.5762+119G>A rs4988059 0.01175
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.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.1066-57G>A rs4987935 0.00993
NM_000051.4(ATM):c.497-2686C>T rs58745314 0.00975
NM_000051.4(ATM):c.3993+40G>A rs3218709 0.00933
NM_000051.4(ATM):c.2839-337G>A rs4987980 0.00926
NM_000051.4(ATM):c.2250+78G>A rs2235010 0.00903
NM_000051.4(ATM):c.5674+102A>G rs4988045 0.00901
NM_000051.4(ATM):c.3077+61G>A rs3218679 0.00895
NM_000051.4(ATM):c.5320-171C>A rs138237074 0.00864
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.3993+133A>G rs142220799 0.00855
NM_000051.4(ATM):c.1066-230A>G rs144307279 0.00836
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
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.3993+48A>G rs3218712 0.00736
NM_000051.4(ATM):c.2839-384T>A rs4987979 0.00733
NM_000051.4(ATM):c.5320-285A>C rs4988038 0.00731
NM_000051.4(ATM):c.4776+41C>T rs114726455 0.00726
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.901+99C>A rs1800755 0.00711
NM_000051.4(ATM):c.2124+109A>G rs4987952 0.00662
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
NM_000051.4(ATM):c.497-2423T>G rs56075601 0.00649
NM_000051.4(ATM):c.1802+273G>A rs139045926 0.00643
NM_000051.4(ATM):c.3994-121del rs56013141 0.00643
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000051.4(ATM):c.569T>A (p.Ile190Lys) rs201159454 0.00622
NM_000051.4(ATM):c.332-158T>A rs76066256 0.00605
NM_000051.4(ATM):c.2125-69C>G rs2235007 0.00599
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.497-2482A>G rs78813088 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.497-316A>G rs147476994 0.00556
NM_000051.4(ATM):c.2838+291A>G rs189872799 0.00520
NM_000051.4(ATM):c.1608-194T>C rs4987944 0.00515
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.5762+27G>A rs3218686 0.00428
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.5005+21_5005+22insGC rs547799081 0.00378
NM_000051.4(ATM):c.5320-74T>C rs56260201 0.00366
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.5319+150A>C rs80195777 0.00339
NM_000051.4(ATM):c.5006-275G>A rs4988028 0.00335
NM_000051.4(ATM):c.5497-168T>C rs142080730 0.00329
NM_000051.4(ATM):c.3077+209C>G rs184668394 0.00325
NM_000051.4(ATM):c.2466+87T>G rs145659155 0.00304
NM_000051.4(ATM):c.5006-198C>T rs4988029 0.00301
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
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.-30-44T>C rs56096834 0.00230
NM_000051.4(ATM):c.5496+231G>A rs4988039 0.00229
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.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.-31+1129T>A rs552689366 0.00163
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
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.2838+194A>G rs749105426 0.00132
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.5005+43G>A rs144753630 0.00116
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.2125-88T>A rs189045169 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
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.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.3403-184T>C rs1020943455 0.00064
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.2250+75T>C rs2235009 0.00046
NM_000051.4(ATM):c.3284+382T>C rs189826589 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.4109+54A>T rs181020146 0.00040
NM_000051.4(ATM):c.3403-14A>T rs941737393 0.00038
NM_000051.4(ATM):c.2922-23C>A rs571402682 0.00034
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.4949A>G (p.Asn1650Ser) rs55870064 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.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.2251-19T>C rs370713089 0.00024
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.3403-15_3403-14insTA rs1555091084 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.3402+17T>C rs3092825 0.00020
NM_000051.3(ATM):c.-371G>C rs890835455 0.00019
NM_000051.4(ATM):c.-31+1782A>C rs749439725 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.3994-111C>G rs879004695 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.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2467-31T>C rs141761716 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
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.2887A>G (p.Met963Val) rs374353016 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.4110-25G>A rs368881313 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.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.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.3153+20T>C rs200786429 0.00012
NM_000051.4(ATM):c.3576+687_3576+688insTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091763 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.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.5320-23T>A rs753483198 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.186-34C>T rs371745892 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.670A>G (p.Lys224Glu) rs145053092 0.00009
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.663-43T>A rs4987918 0.00008
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.3403-14A>G rs941737393 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.-218T>A rs886047609 0.00006
NM_000051.4(ATM):c.-31+8C>T rs909647503 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.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.-30-53A>C rs182382127 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.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.716T>C (p.Phe239Ser) rs143198946 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 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.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.-30-17A>G rs549786728 0.00004
NM_000051.4(ATM):c.-31+4G>C rs1008003068 0.00004
NM_000051.4(ATM):c.129A>G (p.Leu43=) rs780616292 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.2124+21A>G rs770563728 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.5675-88A>G rs1363005755 0.00004
NM_000051.4(ATM):c.-24A>G rs890413530 0.00003
NM_000051.4(ATM):c.-30-19A>G rs763900742 0.00003
NM_000051.4(ATM):c.-43T>G rs982834411 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.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.601C>G (p.Gln201Glu) rs886039666 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
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.3994-830A>C rs869312479 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.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.852A>G (p.Gln284=) rs140367473 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.3(ATM):c.-229C>G rs886047608 0.00001
NM_000051.3(ATM):c.-282T>G rs1301840777 0.00001
NM_000051.4(ATM):c.-14T>C rs766166610 0.00001
NM_000051.4(ATM):c.-19T>C rs890075956 0.00001
NM_000051.4(ATM):c.-30-15G>A rs776227873 0.00001
NM_000051.4(ATM):c.-31+12G>A rs962403813 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.1471A>G (p.Thr491Ala) rs1555071008 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.1641C>G (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+31T>C rs571866895 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.2500G>C (p.Glu834Gln) rs876660430 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.2583C>T (p.Tyr861=) rs886039633 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.2796T>C (p.Asp932=) rs1273202474 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.2953G>C (p.Asp985His) rs1210518784 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.3153+49C>T rs1221844555 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.3247C>T (p.His1083Tyr) rs768362411 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.3576+14A>C rs1416761865 0.00001
NM_000051.4(ATM):c.3576+22A>G rs750142376 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.3994-50C>T rs753142634 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.4734G>A (p.Gln1578=) rs754579737 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.4777-27A>G rs766101886 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.497-14T>A rs757147178 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.5556A>G (p.Gln1852=) rs1555107364 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.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.5G>A (p.Ser2Asn) rs730881360 0.00001
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.662+14T>A rs1450503203 0.00001
NM_000051.4(ATM):c.662+20T>A rs1222553728 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.672G>T (p.Lys224Asn) rs769731317 0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu) rs762998620 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.709A>G (p.Thr237Ala) rs376529329 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.722A>G (p.Lys241Arg) rs1021907990 0.00001
NM_000051.4(ATM):c.728T>C (p.Leu243Ser) rs786202096 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.738C>G (p.Asn246Lys) rs1335108218 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.754T>A (p.Cys252Ser) rs863224580 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.787C>T (p.Leu263Phe) rs876659531 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.804A>G (p.Gln268=) rs2079766818 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.834C>T (p.Val278=) rs2079769316 0.00001
NM_000051.4(ATM):c.839T>C (p.Ile280Thr) rs587782080 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.86A>C (p.Lys29Thr) rs147009251 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.884C>A (p.Ala295Asp) rs1044092081 0.00001
NM_000051.4(ATM):c.887A>C (p.Lys296Thr) rs1064795297 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.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.912A>G (p.Glu304=) rs1286754263 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
GRCh37/hg19 11q22.3(chr11:108188097-108188249)x0
GRCh37/hg19 11q22.3(chr11:108233807-108245056)x1
GRCh37/hg19 11q22.3(chr11:108235806-108236235)x1
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1
NC_000011.10:g.(108286180_108289631)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.(?_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.(?_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)_(108307994_?)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.(?_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.(?_108299704)_(108304862_?)del
NC_000011.10:g.(?_108307887)_(108365508_?)del
NC_000011.10:g.(?_108325300)_(108347375_?)del
NC_000011.10:g.(?_108325300)_(108365508_?)del
NC_000011.10:g.(?_108331434)_(108335971_?)dup
NC_000011.10:g.(?_108332752)_(108354884_?)dup
NC_000011.10:g.(?_108335835)_(108365508_?)dup
NC_000011.10:g.(?_108335835)_(108365518_?)dup
NC_000011.10:g.(?_108343212)_(108354884_?)dup
NC_000011.10:g.(?_108353756)_(108354884_?)del
NC_000011.10:g.(?_108365010)_(108365542_?)del
NC_000011.10:g.(?_108365072)_(108365508_?)del
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.(108114846_108115514)_(108239827_?)dup
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
NC_000011.9:g.(108225602_108235808)_(108236198_?)dup
NC_000011.9:g.(108225602_108235808)_(108239827_?)del
NC_000011.9:g.(108225602_108235808)_(108239827_?)dup
NC_000011.9:g.(?_107992314)_108236255del
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)_(108158452_?)dup
NC_000011.9:g.(?_108098346)_(108138075_?)del
NC_000011.9:g.(?_108098346)_(108236241_?)del
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)_(108236235_?)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.(?_108137888)_(108155210_?)del
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.(?_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.(?_108200931)_(108236235_?)del
NC_000011.9:g.(?_108204603)_(108204705_?)del
NC_000011.9:g.(?_108205686)_(108236245_?)dup
NC_000011.9:g.(?_108206566)_(108206694_?)del
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.(?_108225592)_(108229424_?)del
NC_000011.9:g.(?_108235789)_(108236235_?)dup
NC_000011.9:g.(?_108235810)_108237715del
NC_000011.9:g.108105163_108155884del
NC_000011.9:g.108108886_108205398del
NC_000011.9:g.108163403_108163404insLINE
NM_000051.3(ATM):c.-222T>A rs557953523
NM_000051.3(ATM):c.-235delC rs886047607
NM_000051.3(ATM):c.-241G>C rs1800065
NM_000051.3(ATM):c.-30_-27delACAG
NM_000051.3(ATM):c.-327T>C rs557572386
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2839-?_4109+?del
NM_000051.3(ATM):c.3245_3247delinsTGAT
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs) rs1555092425
NM_000051.3(ATM):c.4493_4494insLINE1
NM_000051.3(ATM):c.8269-?_8671+?del
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
NM_000051.3:c.2839-3insALU
NM_000051.3:c.2839-4_2839-3insL1
NM_000051.3:c.3167_3168insALU
NM_000051.3:c.3577-39_3577-38insALU
NM_000051.3:c.435_436insALU
NM_000051.3:c.4479_4480insL1
NM_000051.3:c.475G>A
NM_000051.3:c.5770_5771insALU
NM_000051.3:c.5889_5890insALU
NM_000051.3:c.7374_7375insAlu
NM_000051.3:c.8010+30_8010+31insL1
NM_000051.3:c.8010+30insALU
NM_000051.3:c.8844_8845insLINE1
NM_000051.3:c.919_920insALU
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.-18G>C rs374303671
NM_000051.4(ATM):c.-1C>T rs2078804456
NM_000051.4(ATM):c.-25G>T rs1422476659
NM_000051.4(ATM):c.-27G>T rs1057522375
NM_000051.4(ATM):c.-2C>T rs755213267
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.-30-5dup rs745673370
NM_000051.4(ATM):c.-31+1135C>T rs869312481
NM_000051.4(ATM):c.-31+238G>A
NM_000051.4(ATM):c.-31+595G>A rs1555051574
NM_000051.4(ATM):c.-31+6G>T rs1555051184
NM_000051.4(ATM):c.-31+6_-31+7insTGT rs2134938521
NM_000051.4(ATM):c.-32_-31dup rs876661223
NM_000051.4(ATM):c.-34A>G rs563999137
NM_000051.4(ATM):c.-3A>G rs1591445631
NM_000051.4(ATM):c.-42C>T rs1057523482
NM_000051.4(ATM):c.-47A>G rs1057523231
NM_000051.4(ATM):c.-5G>A
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.1004G>T (p.Gly335Val)
NM_000051.4(ATM):c.1005A>G (p.Gly335=) rs1555068481
NM_000051.4(ATM):c.1006T>C (p.Phe336Leu) rs1555068485
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.100A>T (p.Ile34Phe) rs1555054094
NM_000051.4(ATM):c.1010G>C (p.Arg337Pro)
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.1013A>G (p.Asn338Ser)
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.1017T>G (p.Ile339Met)
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.1027G>T (p.Glu343Ter)
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.1032T>C (p.Asn344=)
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.1039G>T (p.Glu347Ter)
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.4(ATM):c.103C>G (p.Arg35Gly) rs55861249
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>G (p.Met349Val)
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.104G>T (p.Arg35Leu)
NM_000051.4(ATM):c.1050A>C (p.Ala350=) rs1591511442
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.1055T>A (p.Ile352Asn)
NM_000051.4(ATM):c.1056C>A (p.Ile352=)
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.1056_1057del (p.Ile352fs) rs1591511511
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.1058G>C (p.Cys353Ser)
NM_000051.4(ATM):c.1058G>T (p.Cys353Phe)
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1059T>C (p.Cys353=)
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>G 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.1066-15A>G rs771020891
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.1066-20G>T rs1565378678
NM_000051.4(ATM):c.1066-22T>G rs778167931
NM_000051.4(ATM):c.1066-24A>G
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.1066-31del rs35813860
NM_000051.4(ATM):c.1066-31dup rs35813860
NM_000051.4(ATM):c.1066-32_1066-31del
NM_000051.4(ATM):c.1066-3C>G rs1565378708
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.1067T>C (p.Val356Ala)
NM_000051.4(ATM):c.1068T>A (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1068T>C (p.Val356=) rs1462038794
NM_000051.4(ATM):c.106_113del (p.Asp36fs)
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.1073A>C (p.Asn358Thr)
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.1076A>G (p.Glu359Gly) rs1555069537
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1077A>G (p.Glu359=)
NM_000051.4(ATM):c.1078G>A (p.Asp360Asn) rs1591517212
NM_000051.4(ATM):c.1078del (p.Asp360fs) rs2135290302
NM_000051.4(ATM):c.1079A>C (p.Asp360Ala) rs775767808
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.1086A>T (p.Arg362Ser) rs142591268
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.4(ATM):c.1089C>A (p.Ser363=)
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.1092G>A (p.Leu364=)
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.1098T>C (p.Ile366=)
NM_000051.4(ATM):c.1098T>G (p.Ile366Met)
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro) rs879254236
NM_000051.4(ATM):c.109C>G (p.Pro37Ala)
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.1104A>T (p.Gln368His) rs560691658
NM_000051.4(ATM):c.1105T>C (p.Ser369Pro)
NM_000051.4(ATM):c.1105_1121del (p.Ser369fs)
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.1107T>C (p.Ser369=)
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.110C>T (p.Pro37Leu) 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.1119dup (p.Gln374fs) rs2079992934
NM_000051.4(ATM):c.111T>G (p.Pro37=)
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.1120del (p.Gln374fs) rs2135292079
NM_000051.4(ATM):c.1121A>C (p.Gln374Pro) rs1555069640
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>A (p.Glu376Lys) rs1555069657
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs) rs1064795624
NM_000051.4(ATM):c.1128A>G (p.Glu376=) rs1186427608
NM_000051.4(ATM):c.1129T>A (p.Ser377Thr)
NM_000051.4(ATM):c.1129T>C (p.Ser377Pro) rs876660620
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.1138T>C (p.Tyr380His)
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.1141dup (p.Ser381fs)
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.1153A>C (p.Lys385Gln)
NM_000051.4(ATM):c.1153A>G (p.Lys385Glu) rs2079996194
NM_000051.4(ATM):c.1154_1156del (p.Lys385del) rs2135293203
NM_000051.4(ATM):c.1155A>G (p.Lys385=)
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.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1168G>A (p.Glu390Lys) rs876660106
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.116C>G (p.Thr39Arg) rs1555054109
NM_000051.4(ATM):c.116C>T (p.Thr39Ile)
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.1172dup (p.Gly392fs)
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.1179G>C (p.Trp393Cys) rs876658567
NM_000051.4(ATM):c.1179G>T (p.Trp393Cys)
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.1183G>A (p.Val395Ile)
NM_000051.4(ATM):c.1183G>T (p.Val395Leu)
NM_000051.4(ATM):c.1184T>C (p.Val395Ala) rs1591517993
NM_000051.4(ATM):c.1184_1197delinsGTGAT (p.Val395_His399delinsGlyAsp)
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.1188A>G (p.Ile396Met) rs1565379417
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.1196A>G (p.His399Arg) rs1565379486
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.119T>C (p.Ile40Thr) rs2135012557
NM_000051.4(ATM):c.119_122del (p.Ile40fs) rs876659116
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.1201C>T (p.Gln401Ter)
NM_000051.4(ATM):c.1203G>C (p.Gln401His) rs1214283617
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.1216G>A (p.Asp406Asn) rs2080001416
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.121A>T (p.Lys41Ter)
NM_000051.4(ATM):c.1221dup (p.Asp408Ter) rs1064792998
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.4(ATM):c.1224dup (p.Leu409fs)
NM_000051.4(ATM):c.1225C>A (p.Leu409Ile) rs786203815
NM_000051.4(ATM):c.1225C>G (p.Leu409Val)
NM_000051.4(ATM):c.1226T>C (p.Leu409Pro) rs1064793442
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.1228_1229insCGCCT (p.Val410fs)
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.1231_1235dup (p.Trp412fs) rs1591518293
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+1del rs886039640
NM_000051.4(ATM):c.1235+20T>C rs762656752
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1235+3A>T
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.1235+8G>T rs1555069907
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_1236-17del rs2080085044
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.1236-20T>C rs2080084457
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_1236-2del rs587782572
NM_000051.4(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3del rs34325032
NM_000051.4(ATM):c.1236-4_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3insC rs2135315149
NM_000051.4(ATM):c.1236-5T>C rs1591522569
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.1238del (p.Leu413fs) rs2080088451
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.1250C>T (p.Thr417Ile)
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.1258del (p.Ile420fs)
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.125A>T (p.His42Leu)
NM_000051.4(ATM):c.1260A>C (p.Ile420=) rs750468699
NM_000051.4(ATM):c.1260A>G (p.Ile420Met)
NM_000051.4(ATM):c.1261_1263del (p.Ser421del) rs1555070666
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>G (p.Lys422Glu) rs1555070678
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.1268A>G (p.Tyr423Cys) rs1064796159
NM_000051.4(ATM):c.126T>G (p.His42Gln) rs587781661
NM_000051.4(ATM):c.1270C>A (p.Pro424Thr) rs1591522957
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.1272T>G (p.Pro424=)
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>A (p.Ala425Glu) rs1301649540
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.1275A>T (p.Ala425=)
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.1280T>C (p.Leu427Ser) rs2135317116
NM_000051.4(ATM):c.1281A>T (p.Leu427Phe) rs2080092432
NM_000051.4(ATM):c.1282C>A (p.Pro428Thr)
NM_000051.4(ATM):c.1283C>A (p.Pro428His)
NM_000051.4(ATM):c.1283C>T (p.Pro428Leu)
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.1287C>A (p.Asn429Lys)
NM_000051.4(ATM):c.1288T>C (p.Cys430Arg) rs2080092840
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.1294_1306delinsA (p.Leu432_Leu436delinsMet)
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.1296G>T (p.Leu432=)
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)
NM_000051.4(ATM):c.1298C>G (p.Ser433Cys)
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
NM_000051.4(ATM):c.1299T>G (p.Ser433=) rs1565382118
NM_000051.4(ATM):c.12A>G (p.Val4=) rs786201365
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>C (p.Leu435Ser) rs1565382166
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.1307T>C (p.Leu436Pro) rs1060501608
NM_000051.4(ATM):c.1307T>G (p.Leu436Arg)
NM_000051.4(ATM):c.1308G>T (p.Leu436=)
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.1310T>C (p.Met437Thr) rs587779814
NM_000051.4(ATM):c.1312A>G (p.Ile438Val)
NM_000051.4(ATM):c.1313_1389delinsGACTCCATTAC (p.Ile438_Ala463delinsArgLeuHisTyr) rs1565382200
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.1314A>T (p.Ile438=)
NM_000051.4(ATM):c.1314dup (p.Leu439fs) rs1555070739
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.1318T>C (p.Ser440Pro)
NM_000051.4(ATM):c.131A>T (p.Asp44Val) rs150143957
NM_000051.4(ATM):c.1320T>A (p.Ser440=)
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.1329A>T (p.Leu443=) rs201460863
NM_000051.4(ATM):c.1329del (p.Gln445fs) rs587782844
NM_000051.4(ATM):c.132T>C (p.Asp44=) rs1555054149
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.1344T>C (p.His448=) rs2080098485
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.1347_1348del (p.Glu450fs)
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys) rs1555070786
NM_000051.4(ATM):c.1348G>T (p.Glu450Ter) 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.1352G>C (p.Arg451Pro)
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.1358dup (p.Tyr454fs) rs1555070805
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>A (p.Arg457=) rs749036865
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.1372_1397dup (p.Gln466fs) rs2135320462
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr) rs1064796013
NM_000051.4(ATM):c.1373G>C (p.Cys458Ser) 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>A (p.Leu459Ile) rs1064794635
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.137A>G (p.His46Arg) 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.1381G>T (p.Glu461Ter)
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.1384G>A (p.Val462Ile)
NM_000051.4(ATM):c.1385T>C (p.Val462Ala) rs1555070869
NM_000051.4(ATM):c.1386T>A (p.Val462=) rs1591523725
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>A (p.Ala463Glu)
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.1394_1395del (p.Cys465fs) rs876659866
NM_000051.4(ATM):c.1395T>C (p.Cys465=)
NM_000051.4(ATM):c.1395T>G (p.Cys465Trp) rs1240144277
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.139T>G (p.Ser47Ala)
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.1401dup (p.Lys468fs)
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.1405A>C (p.Arg469=)
NM_000051.4(ATM):c.1406G>A (p.Arg469Lys)
NM_000051.4(ATM):c.1406G>C (p.Arg469Thr)
NM_000051.4(ATM):c.1406_1413del (p.Arg469fs) rs2135321724
NM_000051.4(ATM):c.1407G>T (p.Arg469Ser)
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.140C>T (p.Ser47Leu)
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.1414C>T (p.Leu472=)
NM_000051.4(ATM):c.1416A>C (p.Leu472=)
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.1424C>G (p.Ser475Ter) rs786203550
NM_000051.4(ATM):c.1425A>G (p.Ser475=) rs2080105606
NM_000051.4(ATM):c.1426C>G (p.Gln476Glu)
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.142G>T (p.Asp48Tyr)
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.1431_1432delinsTTTATTAAAGCTCA (p.Lys477_Ser478delinsAsnLeuLeuLysLeuThr)
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.1437T>G (p.Asp479Glu) rs1565382937
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile) rs879254243
NM_000051.4(ATM):c.1438T>G (p.Leu480Val) rs879254243
NM_000051.4(ATM):c.1438_1442del (p.Leu480fs)
NM_000051.4(ATM):c.1439_1448del (p.Leu480fs) rs876658651
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.1444A>T (p.Lys482Ter) rs202173660
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.1450_1451del (p.Trp484fs)
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.1457A>C (p.Lys486Thr)
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.1461T>G (p.Ile487Met) rs2080108393
NM_000051.4(ATM):c.1462T>A (p.Trp488Arg) rs2135323595
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.1464del (p.Trp488fs) rs1555070994
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.1470dup (p.Thr491fs) rs2135323866
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.1475T>C (p.Phe492Ser) rs1555071017
NM_000051.4(ATM):c.1476T>C (p.Phe492=) rs1591524241
NM_000051.4(ATM):c.1476dup (p.Arg493fs) rs1565383194
NM_000051.4(ATM):c.1478G>A (p.Arg493His) rs1565383235
NM_000051.4(ATM):c.1479T>C (p.Arg493=)
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.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer) rs1064795556
NM_000051.4(ATM):c.1488T>A (p.Ser496Arg)
NM_000051.4(ATM):c.1488T>C (p.Ser496=)
NM_000051.4(ATM):c.1488T>G (p.Ser496Arg)
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr) rs1375637948
NM_000051.4(ATM):c.148A>C (p.Lys50Gln) rs1591447239
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.1496A>G (p.Gln499Arg) rs2080112384
NM_000051.4(ATM):c.1498A>C (p.Ile500Leu) rs2080112487
NM_000051.4(ATM):c.1499T>C (p.Ile500Thr)
NM_000051.4(ATM):c.149A>C (p.Lys50Thr) rs1479478300
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
NM_000051.4(ATM):c.14_21del (p.Leu5fs)
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.1502A>G (p.Gln501Arg)
NM_000051.4(ATM):c.1503A>G (p.Gln501=) rs786203736
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
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.1512C>T (p.Asn504=)
NM_000051.4(ATM):c.1512del (p.Phe505fs) rs1555071103
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.1514T>G (p.Phe505Cys) 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>A (p.Gly509Glu) rs1591524556
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)
NM_000051.4(ATM):c.1528G>A (p.Ala510Thr) rs1555071138
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs) rs2080115075
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.1534A>G (p.Ile512Val) rs876658180
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.1537del (p.Gln513fs) rs1591524613
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.1541G>T (p.Gly514Val) rs2235000
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1543A>G (p.Ser515Gly) rs2135326489
NM_000051.4(ATM):c.1544G>C (p.Ser515Thr) rs1555071168
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.1549G>T (p.Val517Phe) 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.154G>T (p.Gly52Ter) 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.1553A>T (p.Glu518Val) rs2080117672
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>G (p.Asp520Glu)
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.1563A>G (p.Arg521=)
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.1565A>G (p.Glu522Gly) rs1254907954
NM_000051.4(ATM):c.1566A>C (p.Glu522Asp)
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
NM_000051.4(ATM):c.1568T>A (p.Phe523Tyr) rs768038315
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.1570T>A (p.Trp524Arg)
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.1574A>C (p.Lys525Thr) rs1591524835
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn) rs587780613
NM_000051.4(ATM):c.1575G>T (p.Lys525Asn) rs587780613
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser) rs2080119755
NM_000051.4(ATM):c.1578A>G (p.Leu526=) rs1591524857
NM_000051.4(ATM):c.1578_1579insAA (p.Phe527fs)
NM_000051.4(ATM):c.1579T>A (p.Phe527Ile)
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.157A>G (p.Lys53Glu)
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1580T>C (p.Phe527Ser)
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.1585G>A (p.Gly529Arg)
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu) rs1555071242
NM_000051.4(ATM):c.1586G>C (p.Gly529Ala)
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.1595delinsTA (p.Cys532fs)
NM_000051.4(ATM):c.1596C>G (p.Cys532Trp) rs564050785
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.15del (p.Asn6fs)
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>A (p.Pro534=)
NM_000051.4(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.4(ATM):c.1605A>C (p.Ser535=) rs1060504290
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+1del
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1607+21_1607+29del
NM_000051.4(ATM):c.1607+2T>A
NM_000051.4(ATM):c.1607+2dup rs2135328592
NM_000051.4(ATM):c.1607+3A>G rs2080122454
NM_000051.4(ATM):c.1607+48AC[5]
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.1608-12G>C rs749269085
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.1608-16C>T 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.1608-2A>G 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.1608-6T>G rs2080162256
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.1609C>T (p.Pro537Ser) rs1165590160
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.1617dup (p.Cys540fs)
NM_000051.4(ATM):c.1619_1620delinsAA (p.Cys540Ter)
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.1621T>G (p.Cys541Gly) 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.1627A>G (p.Thr543Ala)
NM_000051.4(ATM):c.1627A>T (p.Thr543Ser) rs2080165023
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>C (p.Ala545=) rs1555071712
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>A (p.Leu546Met) rs2227924
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.1638G>C (p.Leu546=)
NM_000051.4(ATM):c.1638G>T (p.Leu546=)
NM_000051.4(ATM):c.1639A>G (p.Thr547Ala) rs1591527306
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.1643_1656del (p.Thr548fs) rs1591527327
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
NM_000051.4(ATM):c.1644del (p.Ser549fs) rs1591527355
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.1647T>C (p.Ser549=)
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>C (p.Ile550=)
NM_000051.4(ATM):c.1650A>G (p.Ile550Met) rs1060501606
NM_000051.4(ATM):c.1650A>T (p.Ile550=)
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>A (p.Pro552Gln)
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.1656A>C (p.Pro552=)
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg) rs1591527438
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.1660A>G (p.Thr554Ala)
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_1669del (p.Lys556fs)
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.1672G>A (p.Gly558Arg)
NM_000051.4(ATM):c.1672G>T (p.Gly558Ter)
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala) rs1064795257
NM_000051.4(ATM):c.1673G>T (p.Gly558Val) 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.1678G>A (p.Glu560Lys)
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly) rs762476611
NM_000051.4(ATM):c.1679A>T (p.Glu560Val) 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.1681C>T (p.Gln561Ter)
NM_000051.4(ATM):c.1682A>C (p.Gln561Pro)
NM_000051.4(ATM):c.1683A>G (p.Gln561=) rs876660110
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.1686T>C (p.Asn562=) rs1131691152
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.1689del (p.Met563fs)
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.1697_1706del (p.Val566fs) rs1064794468
NM_000051.4(ATM):c.1698A>G (p.Val566=) rs2135341613
NM_000051.4(ATM):c.1699A>C (p.Asn567His)
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.1702del (p.Arg568fs)
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.1707C>A (p.Ser569Arg)
NM_000051.4(ATM):c.1707C>G (p.Ser569Arg)
NM_000051.4(ATM):c.1708T>A (p.Phe570Ile)
NM_000051.4(ATM):c.1712C>A (p.Ser571Tyr)
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.1718dup (p.Glu574fs)
NM_000051.4(ATM):c.1719G>A (p.Lys573=)
NM_000051.4(ATM):c.171G>A (p.Trp57Ter)
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.1723T>C (p.Ser575Pro)
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter) rs2135342200
NM_000051.4(ATM):c.1724C>G (p.Ser575Ter)
NM_000051.4(ATM):c.1727T>A (p.Ile576Lys)
NM_000051.4(ATM):c.1729A>C (p.Met577Leu) rs1555071919
NM_000051.4(ATM):c.1729A>G (p.Met577Val) 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>C (p.Met577Thr) rs1591527919
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)
NM_000051.4(ATM):c.1731G>T (p.Met577Ile)
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.1734A>T (p.Lys578Asn) rs1555071939
NM_000051.4(ATM):c.1735T>C (p.Trp579Arg) rs1591527984
NM_000051.4(ATM):c.1735T>G (p.Trp579Gly)
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
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>A (p.Phe582Tyr) rs1064794747
NM_000051.4(ATM):c.1745T>G (p.Phe582Cys)
NM_000051.4(ATM):c.1745_1746insTAAATGGCTCTTATT (p.Phe582_Tyr583insLysTrpLeuLeuPhe)
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.1749_1750delinsAT (p.Tyr583_Gln584delinsTer) rs1064796083
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter) rs2080176523
NM_000051.4(ATM):c.1751A>C (p.Gln584Pro) rs876660149
NM_000051.4(ATM):c.1751A>G (p.Gln584Arg) rs876660149
NM_000051.4(ATM):c.1752G>A (p.Gln584=) rs2135343108
NM_000051.4(ATM):c.1752G>C (p.Gln584His)
NM_000051.4(ATM):c.1752G>T (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.1761T>C (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.1764C>G (p.Asp588Glu) rs2135343562
NM_000051.4(ATM):c.1764C>T (p.Asp588=)
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
NM_000051.4(ATM):c.1768G>T (p.Glu590Ter) rs876659283
NM_000051.4(ATM):c.176C>T (p.Ala59Val) rs760880388
NM_000051.4(ATM):c.1772A>G (p.Asn591Ser) rs1064794804
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>A (p.Ser592Arg) rs1057524304
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>C (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1780G>A (p.Glu594Lys)
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.1785G>T (p.Val595=) rs2080179445
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>C (p.Pro596=)
NM_000051.4(ATM):c.1788T>G (p.Pro596=)
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala) rs1555072070
NM_000051.4(ATM):c.1789C>T (p.Pro597Ser)
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.1790C>A (p.Pro597Gln)
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.1793T>C (p.Ile598Thr) rs1591528409
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>G (p.His600Asp) 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>C (p.Ser601Arg)
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+28G>T
NM_000051.4(ATM):c.1802+33_1802+45del
NM_000051.4(ATM):c.1802+35_1802+36del rs749339972
NM_000051.4(ATM):c.1802+36dup
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+5T>C
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.1803-10_1803-5del rs1591530643
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.1803-1G>C
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.1803-35G>C
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.1803-8C>A rs778937998
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.1811del (p.Pro604fs)
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.1817_1818del (p.Leu606fs) rs2135352900
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.1824G>A (p.Leu608=)
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.1828A>G (p.Lys610Glu)
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.1837G>C (p.Val613Leu) rs200124136
NM_000051.4(ATM):c.1837_1839del (p.Val613del) rs2135353566
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.1843C>T (p.Leu615Phe)
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.1847dup (p.Met617fs) rs1591530991
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+273_185+276del rs145084494
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.1852A>G (p.Lys618Glu) rs1555072538
NM_000051.4(ATM):c.1856A>C (p.Asn619Thr)
NM_000051.4(ATM):c.1856A>G (p.Asn619Ser) rs1591531036
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.1859G>A (p.Cys620Tyr)
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.185G>A (p.Arg62Lys)
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.186-1G>T
NM_000051.4(ATM):c.186-1del
NM_000051.4(ATM):c.186-2A>G rs2078881350
NM_000051.4(ATM):c.186-40A>G
NM_000051.4(ATM):c.186-4G>C
NM_000051.4(ATM):c.186-6T>C rs2078881202
NM_000051.4(ATM):c.186-7C>G rs55674039
NM_000051.4(ATM):c.186-8del rs1555055031
NM_000051.4(ATM):c.1862A>G (p.Lys621Arg) rs1591531052
NM_000051.4(ATM):c.1866T>C (p.Ala622=) rs2135354414
NM_000051.4(ATM):c.1868C>G (p.Ala623Gly) rs2135354486
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.1871T>C (p.Met624Thr) rs2080231163
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.1874A>G (p.Asn625Ser)
NM_000051.4(ATM):c.1876T>G (p.Phe626Val)
NM_000051.4(ATM):c.1877_1880del (p.Phe626fs)
NM_000051.4(ATM):c.1880del (p.Phe627fs)
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.1886G>C (p.Ser629Thr) rs2080232076
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>G rs2080234530
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+3_1898+4del rs879254094
NM_000051.4(ATM):c.1898+4T>A rs1591531225
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>A (p.Cys633Tyr) rs750371239
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.1899-15C>T rs759924007
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.1899-20A>C
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.1899-348_1899-344del rs200029320
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.18T>C (p.Asn6=) rs876659088
NM_000051.4(ATM):c.1900G>C (p.Glu634Gln) rs2135365529
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.1904_1905del (p.His635fs)
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.1907A>C (p.His636Pro) rs1333990758
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.1912A>C (p.Lys638Gln)
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.4(ATM):c.1914A>G (p.Lys638=)
NM_000051.4(ATM):c.1914A>T (p.Lys638Asn)
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.191del (p.Leu64fs)
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.1920del (p.Glu641fs)
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.1924G>T (p.Glu642Ter) 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>G (p.Leu643Val) rs1565389730
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
NM_000051.4(ATM):c.1928T>C (p.Leu643Pro) rs1591533931
NM_000051.4(ATM):c.1929T>A (p.Leu643=) rs876659911
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.192dup (p.Gln65fs) rs1565346604
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.1935del (p.Ser646fs)
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>G (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.1941A>T (p.Glu647Asp)
NM_000051.4(ATM):c.1942G>A (p.Val648Ile)
NM_000051.4(ATM):c.1943T>G (p.Val648Gly)
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.1949A>C (p.Glu650Ala)
NM_000051.4(ATM):c.194A>C (p.Gln65Pro) rs760471526
NM_000051.4(ATM):c.194A>G (p.Gln65Arg) rs760471526
NM_000051.4(ATM):c.1951C>G (p.Leu651Val)
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.1956T>G (p.Phe652Leu) rs587782544
NM_000051.4(ATM):c.1956_1959del (p.Leu653fs)
NM_000051.4(ATM):c.1957C>A (p.Leu653Ile)
NM_000051.4(ATM):c.1957C>T (p.Leu653Phe)
NM_000051.4(ATM):c.195G>C (p.Gln65His) rs1555055072
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter) rs528165789
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.1971T>G (p.Phe657Leu) rs1555073215
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.1976del (p.Lys659fs)
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.1978A>G (p.Met660Val) rs1555073240
NM_000051.4(ATM):c.1978del (p.Met660fs)
NM_000051.4(ATM):c.1978dup (p.Met660fs) rs1555073243
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.1979_1981delinsAGA (p.Met660_Asp661delinsLysAsn) rs1565390104
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.1982A>G (p.Asp661Gly)
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.1990A>G (p.Thr664Ala) rs797045319
NM_000051.4(ATM):c.1991C>A (p.Thr664Asn) rs1231343218
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.1999A>G (p.Arg667Gly)
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.2000G>A (p.Arg667Lys)
NM_000051.4(ATM):c.2000_2003dup (p.Cys669fs) rs1555073282
NM_000051.4(ATM):c.2002G>A (p.Glu668Lys) rs876659808
NM_000051.4(ATM):c.2006G>A (p.Cys669Tyr)
NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)
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>C (p.Gly670Ala) 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.2018dup (p.His674fs)
NM_000051.4(ATM):c.2019_2020insGACAAG (p.Lys673_His674insAspLys) rs876659686
NM_000051.4(ATM):c.2019del (p.Lys673fs) rs1591534511
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter) rs1555055083
NM_000051.4(ATM):c.201_206del (p.Tyr67_Gln69delinsTer)
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.2023_2024del (p.Gln675fs)
NM_000051.4(ATM):c.2023del (p.Gln675fs)
NM_000051.4(ATM):c.2025G>A (p.Gln675=)
NM_000051.4(ATM):c.2025del (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.202_203del (p.Ile68fs)
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) rs2080308052
NM_000051.4(ATM):c.2030G>C (p.Ser677Thr) 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.2036G>A (p.Gly679Asp) rs544123518
NM_000051.4(ATM):c.2037C>T (p.Gly679=)
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>C (p.Val682Ala)
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)
NM_000051.4(ATM):c.2046C>A (p.Val682=) rs1591534664
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.2048A>T (p.His683Leu)
NM_000051.4(ATM):c.204T>G (p.Ile68Met) rs2078883151
NM_000051.4(ATM):c.2050C>T (p.Gln684Ter) rs1060501691
NM_000051.4(ATM):c.2052G>C (p.Gln684His) rs775890872
NM_000051.4(ATM):c.2053A>C (p.Asn685His)
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>A (p.Leu686=)
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.205C>T (p.Gln69Ter) 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.2065T>A (p.Ser689Thr)
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
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.2069_2074dup (p.Asp691_Arg692insLeuAsp)
NM_000051.4(ATM):c.206A>C (p.Gln69Pro) rs1591451524
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.2071G>T (p.Asp691Tyr)
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>A (p.Cys693Tyr)
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe) rs2135370698
NM_000051.4(ATM):c.2080C>A (p.Leu694Ile)
NM_000051.4(ATM):c.2080_2081del (p.Leu694fs) rs886039591
NM_000051.4(ATM):c.2083C>T (p.Leu695=)
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.2091del (p.Leu697fs)
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.2094A>T (p.Ser698=)
NM_000051.4(ATM):c.2095G>A (p.Glu699Lys)
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.2101C>T (p.Leu701Phe)
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.2117C>G (p.Ser706Ter)
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
NM_000051.4(ATM):c.2121T>C (p.Ser707=)
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+21A>T
NM_000051.4(ATM):c.2124+3G>C rs1193263660
NM_000051.4(ATM):c.2124+409A>G rs869312477
NM_000051.4(ATM):c.2124+4A>C rs2135372342
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.2125-1G>T rs1402299151
NM_000051.4(ATM):c.2125-2A>C rs1565394403
NM_000051.4(ATM):c.2125-2A>G
NM_000051.4(ATM):c.2125-2_2128del rs2135391894
NM_000051.4(ATM):c.2125-3A>C rs1565394396
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.2125-5_2125-4dup
NM_000051.4(ATM):c.2125-7C>A rs2135391832
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2125-910T>G
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.2129del (p.Thr710fs) rs786203807
NM_000051.4(ATM):c.212A>G (p.Glu71Gly)
NM_000051.4(ATM):c.2130A>C (p.Thr710=)
NM_000051.4(ATM):c.2130A>G (p.Thr710=) rs2080472731
NM_000051.4(ATM):c.2130A>T (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.2136A>G (p.Ser712=)
NM_000051.4(ATM):c.2138A>C (p.Glu713Ala) rs1565394523
NM_000051.4(ATM):c.2139A>C (p.Glu713Asp) rs2080473610
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.2143C>T (p.Leu715Phe) 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.2145del (p.Val716fs)
NM_000051.4(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.4(ATM):c.2147T>C (p.Val716Ala) 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.2151G>A (p.Arg717=) rs1331738032
NM_000051.4(ATM):c.2152dup (p.Cys718fs) rs2135392702
NM_000051.4(ATM):c.2155T>C (p.Ser719Pro)
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
NM_000051.4(ATM):c.2156C>A (p.Ser719Ter) rs2080475075
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.215C>T (p.Thr72Ile) rs876658893
NM_000051.4(ATM):c.2160T>A (p.Arg720=)
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>A (p.Leu722=) rs1555074886
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe) rs1555074886
NM_000051.4(ATM):c.2167G>A (p.Val723Met)
NM_000051.4(ATM):c.2167_2173del (p.Val723fs) rs1064793033
NM_000051.4(ATM):c.2169G>C (p.Val723=)
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.2176C>T (p.Leu726Phe) rs775266056
NM_000051.4(ATM):c.2178T>A (p.Leu726=)
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.2187C>G (p.Tyr729Ter)
NM_000051.4(ATM):c.2188T>G (p.Cys730Gly) rs1555074947
NM_000051.4(ATM):c.218A>G (p.Glu73Gly)
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.2197G>A (p.Gly733Ser) rs1565394966
NM_000051.4(ATM):c.2198_2199insC (p.Val734fs)
NM_000051.4(ATM):c.2199T>A (p.Gly733=)
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.2200G>T (p.Val734Leu) rs1390127104
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2200del (p.Gly733_Val734insTer)
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.2211A>G (p.Glu737=) rs1555074990
NM_000051.4(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.4(ATM):c.2214G>C (p.Glu738Asp)
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>A (p.Tyr741Ter) rs1057524111
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.2229A>T (p.Ser743=)
NM_000051.4(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)
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.2235A>T (p.Leu745Phe)
NM_000051.4(ATM):c.2238C>G (p.Phe746Leu) rs786203595
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter) rs2080483369
NM_000051.4(ATM):c.2239del (p.Gln747fs)
NM_000051.4(ATM):c.2240A>G (p.Gln747Arg)
NM_000051.4(ATM):c.2242A>C (p.Lys748Gln)
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
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.2249A>G (p.Lys750Arg)
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+329C>A rs181049353
NM_000051.4(ATM):c.2250+3A>G rs2080484745
NM_000051.4(ATM):c.2250+4G>A rs1565395217
NM_000051.4(ATM):c.2250+5G>A rs1555075047
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.2251-115dup rs4987959
NM_000051.4(ATM):c.2251-11A>C
NM_000051.4(ATM):c.2251-11A>T rs755369461
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.2251-18T>G rs1555075595
NM_000051.4(ATM):c.2251-18del rs730881284
NM_000051.4(ATM):c.2251-18dup rs730881284
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>C
NM_000051.4(ATM):c.2251-2A>G rs2135405559
NM_000051.4(ATM):c.2251-33T>A rs1335598894
NM_000051.4(ATM):c.2251-34C>G rs2135404868
NM_000051.4(ATM):c.2251-3T>C rs752951518
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.2251-6C>T rs1555075617
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr) rs1064793558
NM_000051.4(ATM):c.2251T>C (p.Ser751Pro)
NM_000051.4(ATM):c.2252C>G (p.Ser751Cys)
NM_000051.4(ATM):c.2253T>A (p.Ser751=)
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.2254_2255del (p.Leu752fs)
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro) rs2135405669
NM_000051.4(ATM):c.2255dup (p.Met753fs) rs1565396965
NM_000051.4(ATM):c.2256A>T (p.Leu752=)
NM_000051.4(ATM):c.2257A>T (p.Met753Leu)
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.225G>T (p.Leu75=)
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.2264G>T (p.Cys755Phe) rs876660916
NM_000051.4(ATM):c.2265T>C (p.Cys755=)
NM_000051.4(ATM):c.2266G>A (p.Ala756Thr)
NM_000051.4(ATM):c.2267C>A (p.Ala756Glu)
NM_000051.4(ATM):c.2267C>T (p.Ala756Val)
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.2274A>C (p.Glu758Asp) rs1591546306
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.2283T>C (p.Thr761=)
NM_000051.4(ATM):c.2283T>G (p.Thr761=)
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.2285T>G (p.Leu762Arg)
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.2289del (p.Phe763fs)
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.2290A>G (p.Lys764Glu)
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.2302A>G (p.Asn768Asp) rs1591546447
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser) rs2080577809
NM_000051.4(ATM):c.2303A>T (p.Asn768Ile)
NM_000051.4(ATM):c.2304T>C (p.Asn768=) rs2135406753
NM_000051.4(ATM):c.2304T>G (p.Asn768Lys)
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.2312T>G (p.Phe771Cys)
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.2316_2317del (p.Arg772fs)
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.4(ATM):c.2319T>C (p.Ile773=)
NM_000051.4(ATM):c.2319T>G (p.Ile773Met) rs2080578910
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.2325C>A (p.Ser775=)
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.2336T>G (p.Met779Arg)
NM_000051.4(ATM):c.2337G>A (p.Met779Ile) rs1227866298
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>G (p.Gln781Glu) rs1555075781
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.2346A>C (p.Leu782=) rs730881285
NM_000051.4(ATM):c.2347T>C (p.Cys783Arg) rs1555075786
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>A (p.Thr784Lys) rs2135407791
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.2352_2353del (p.Arg785fs)
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.2358C>T (p.Cys786=)
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.2368T>C (p.Cys790Arg) rs1555075810
NM_000051.4(ATM):c.2369G>A (p.Cys790Tyr)
NM_000051.4(ATM):c.236A>G (p.Lys79Arg) rs1591451757
NM_000051.4(ATM):c.2370T>C (p.Cys790=)
NM_000051.4(ATM):c.2371A>G (p.Thr791Ala) rs1555075814
NM_000051.4(ATM):c.2371del (p.Thr791fs)
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+17C>T rs1555075846
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+2dup
NM_000051.4(ATM):c.2376+3A>G rs758083563
NM_000051.4(ATM):c.2376+40A>G
NM_000051.4(ATM):c.2376+44T>G rs777474183
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.2377-10T>C
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.2377-15T>C rs2080690965
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2377-16T>A rs1009142114
NM_000051.4(ATM):c.2377-17G>C rs192105604
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.2377-397A>G rs869312476
NM_000051.4(ATM):c.2377-3C>T
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.2380A>T (p.Ser794Cys) 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.2387A>T (p.Asn796Ile) rs1555076612
NM_000051.4(ATM):c.238C>A (p.Pro80Thr)
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.2398T>C (p.Ser800Pro) rs2135420989
NM_000051.4(ATM):c.2399C>T (p.Ser800Phe) rs1196453563
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.2403C>T (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile) rs2080695065
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu) rs2080695065
NM_000051.4(ATM):c.2404T>G (p.Phe802Val)
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>A (p.Phe803Tyr)
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.4(ATM):c.2408del (p.Phe803fs)
NM_000051.4(ATM):c.2409C>A (p.Phe803Leu) rs1416444032
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.2411T>G (p.Leu804Arg)
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.2418G>A (p.Leu806=) rs587781296
NM_000051.4(ATM):c.2421A>G (p.Leu807=)
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.2428A>T (p.Lys810Ter)
NM_000051.4(ATM):c.2429A>T (p.Lys810Met) rs2080698039
NM_000051.4(ATM):c.2429del (p.Lys810fs)
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
NM_000051.4(ATM):c.242A>G (p.Asn81Ser) rs2135034894
NM_000051.4(ATM):c.242dup (p.Asn81fs) rs1591451795
NM_000051.4(ATM):c.2430G>A (p.Lys810=) rs1555076689
NM_000051.4(ATM):c.2431C>G (p.Leu811Val)
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>C (p.Asn813Thr)
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.2440G>T (p.Asp814Tyr)
NM_000051.4(ATM):c.2441A>T (p.Asp814Val) rs1565400035
NM_000051.4(ATM):c.2441del (p.Asp814fs) rs1565400045
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.2451T>G (p.Asp817Glu)
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.2455_2460del (p.Cys819_Lys820del)
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr) rs1591551588
NM_000051.4(ATM):c.2456del (p.Cys819fs) rs2135422280
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu) rs2080701196
NM_000051.4(ATM):c.2458A>T (p.Lys820Ter)
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.4(ATM):c.2462del (p.Ser821fs) rs2080701610
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+16_2466+28del rs1555076777
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+4_2466+7del
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.2466A>C (p.Leu822Phe) rs747108452
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.2467-277C>G rs4987967
NM_000051.4(ATM):c.2467-2A>G rs1555082050
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2467-48G>A
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.2467-90C>T rs2135503255
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.2468C>T (p.Ala823Val) rs1591587044
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
NM_000051.4(ATM):c.246A>T (p.Val82=)
NM_000051.4(ATM):c.2470T>C (p.Ser824Pro)
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.2475dup (p.Ile826fs) rs1591587103
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.2478C>T (p.Ile826=)
NM_000051.4(ATM):c.2480A>C (p.Lys827Thr) rs372230498
NM_000051.4(ATM):c.2481A>G (p.Lys827=) rs2135505455
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.2487A>T (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.248_249delinsT (p.Ser83fs)
NM_000051.4(ATM):c.248del (p.Val82_Ser83insTer) rs2135035121
NM_000051.4(ATM):c.2490T>G (p.Phe830Leu)
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.2496T>A (p.Arg832=) rs2081302055
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.2498G>A (p.Gly833Glu) rs552010421
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>A (p.Glu834Lys) rs876660430
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.2501A>G (p.Glu834Gly) rs730881349
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.2504T>C (p.Val835Ala)
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.2511A>G (p.Ser837=)
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2513T>G (p.Met838Arg)
NM_000051.4(ATM):c.2514G>T (p.Met838Ile) rs2135506364
NM_000051.4(ATM):c.2515G>A (p.Glu839Lys)
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.2518G>A (p.Asp840Asn) rs879189597
NM_000051.4(ATM):c.2518G>C (p.Asp840His) rs879189597
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.2525C>T (p.Thr842Ile) rs1555082164
NM_000051.4(ATM):c.2526T>A (p.Thr842=)
NM_000051.4(ATM):c.2526T>C (p.Thr842=) rs1565416272
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>A (p.Ala84=)
NM_000051.4(ATM):c.252C>T (p.Ala84=)
NM_000051.4(ATM):c.2530G>A (p.Gly844Arg)
NM_000051.4(ATM):c.2530G>T (p.Gly844Ter)
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.2532A>C (p.Gly844=) rs755261743
NM_000051.4(ATM):c.2532A>T (p.Gly844=)
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.2539_2543del (p.Met847fs)
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>A (p.Glu848Lys) rs879254046
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>A (p.Val849Met) rs1591587875
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.2548del (p.Glu850fs)
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>C (p.Gln852Pro) rs1265258461
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>C (p.Ser853=)
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.2561C>G (p.Ser854Cys) rs778123895
NM_000051.4(ATM):c.2561C>T (p.Ser854Phe)
NM_000051.4(ATM):c.2561_2564dup (p.Met855fs)
NM_000051.4(ATM):c.2562C>T (p.Ser854=)
NM_000051.4(ATM):c.2563A>C (p.Met855Leu)
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.2567A>T (p.Asn856Ile)
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.2570T>C (p.Leu857Pro)
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_2574delinsA (p.Phe858fs)
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.2580T>A (p.Asp860Glu) rs1456550475
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>A (p.Pro862Thr) rs876660537
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.2585C>G (p.Pro862Arg)
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.2588A>T (p.Asp863Val) rs1591588390
NM_000051.4(ATM):c.258A>C (p.Thr86=)
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.2592T>C (p.Ser864=)
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2593A>G (p.Ser865Gly) 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.2600G>C (p.Ser867Thr)
NM_000051.4(ATM):c.2601T>C (p.Ser867=)
NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs) rs2135508789
NM_000051.4(ATM):c.2602G>A (p.Asp868Asn) rs1591588501
NM_000051.4(ATM):c.2603A>T (p.Asp868Val) rs750322758
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.2616T>C (p.Pro872=) rs1591588691
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.2624del (p.Ser875fs) rs1555082344
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.2627A>T (p.Gln876Leu)
NM_000051.4(ATM):c.2628A>C (p.Gln876His)
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.262G>T (p.Ala88Ser) rs1591451921
NM_000051.4(ATM):c.2631T>C (p.Ser877=)
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
NM_000051.4(ATM):c.2632A>G (p.Thr878Ala)
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+155del rs539495734
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+16C>G 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+1del rs1131691153
NM_000051.4(ATM):c.2638+24G>A
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2638+2T>G rs587779826
NM_000051.4(ATM):c.2638+304C>A
NM_000051.4(ATM):c.2638+4A>G
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.2639-21A>G rs2135522420
NM_000051.4(ATM):c.2639-22A>G rs1555083055
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.2639-50A>G
NM_000051.4(ATM):c.2639-6T>G
NM_000051.4(ATM):c.2639-7T>G rs912886321
NM_000051.4(ATM):c.2639-7_2639-2del
NM_000051.4(ATM):c.2639-87del rs4987970
NM_000051.4(ATM):c.2639-8A>G rs779419160
NM_000051.4(ATM):c.2639-8del rs2135522747
NM_000051.4(ATM):c.2639-9dup
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala) rs2135522879
NM_000051.4(ATM):c.263C>A (p.Ala88Asp) rs1565347056
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
NM_000051.4(ATM):c.2643dup (p.Ile882fs)
NM_000051.4(ATM):c.2644A>G (p.Ile882Val)
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.2652T>G (p.Pro884=) rs2081380644
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.2657C>G (p.Ala886Gly) rs2081381149
NM_000051.4(ATM):c.2658T>C (p.Ala886=) rs1591593665
NM_000051.4(ATM):c.2659G>A (p.Glu887Lys)
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.2662G>T (p.Glu888Ter) rs879254083
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
NM_000051.4(ATM):c.2664A>G (p.Glu888=) rs2135523410
NM_000051.4(ATM):c.2665dup (p.Tyr889fs) rs2135523450
NM_000051.4(ATM):c.2666A>G (p.Tyr889Cys) rs1064793034
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.2670G>A (p.Leu890=) rs1555083123
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.2674A>G (p.Lys892Glu)
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.2678A>T (p.Gln893Leu) rs876659776
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.267C>A (p.Ser89=)
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>G (p.Leu898=)
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.2698A>T (p.Met900Leu)
NM_000051.4(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.4(ATM):c.2699T>G (p.Met900Arg)
NM_000051.4(ATM):c.26T>A (p.Leu9His)
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.2705A>C (p.Lys902Thr) rs730881352
NM_000051.4(ATM):c.2705A>G (p.Lys902Arg) rs730881352
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.270del (p.Arg90fs)
NM_000051.4(ATM):c.2715T>A (p.Cys905Ter)
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.2718G>T (p.Leu906Phe)
NM_000051.4(ATM):c.2719T>C (p.Cys907Arg) rs2135524707
NM_000051.4(ATM):c.2719dup (p.Cys907fs)
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.2723del (p.Val908fs)
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>G (p.Thr909Ala)
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.2729C>T (p.Thr910Ile) rs1481694786
NM_000051.4(ATM):c.272A>C (p.Gln91Pro)
NM_000051.4(ATM):c.2730T>G (p.Thr910=) rs1591594148
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>G (p.Thr913Ser)
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile) rs1266220962
NM_000051.4(ATM):c.2739C>A (p.Thr913=) rs1555083293
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.2748_2749del (p.Ser917fs)
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.2758G>T (p.Ala920Ser) rs1555083326
NM_000051.4(ATM):c.2758del (p.Ala920fs) rs2081389278
NM_000051.4(ATM):c.2759C>A (p.Ala920Glu) rs780216086
NM_000051.4(ATM):c.2759C>T (p.Ala920Val) rs780216086
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.4(ATM):c.2762C>A (p.Ala921Asp) rs1555083332
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.2770C>A (p.Arg924=) rs55723361
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.2773A>G (p.Arg925Gly)
NM_000051.4(ATM):c.2774G>A (p.Arg925Lys)
NM_000051.4(ATM):c.2775G>A (p.Arg925=) rs1591594506
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>C (p.Lys93Gln) rs1555055234
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.2782T>C (p.Leu928=)
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.278A>G (p.Lys93Arg)
NM_000051.4(ATM):c.2790A>G (p.Leu930=)
NM_000051.4(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.4(ATM):c.2793T>C (p.Ile931=)
NM_000051.4(ATM):c.2794G>A (p.Asp932Asn)
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.2797T>G (p.Ser933Ala) rs1060501698
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr) rs56087610
NM_000051.4(ATM):c.2798C>T (p.Ser933Phe)
NM_000051.4(ATM):c.2799T>A (p.Ser933=)
NM_000051.4(ATM):c.2799T>C (p.Ser933=) rs1555083381
NM_000051.4(ATM):c.2799T>G (p.Ser933=)
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.27T>C (p.Leu9=)
NM_000051.4(ATM):c.27del (p.Ile10fs) rs1591445826
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
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.2803A>T (p.Thr935Ser)
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.2807T>C (p.Leu936Pro) rs2135526773
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.2814T>C (p.Pro938=)
NM_000051.4(ATM):c.2815A>T (p.Thr939Ser)
NM_000051.4(ATM):c.2816C>T (p.Thr939Ile)
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.2821T>G (p.Ser941Ala) rs1209997887
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.2824C>G (p.Leu942Val)
NM_000051.4(ATM):c.2826C>T (p.Leu942=) rs1025892576
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.2829_2838+16delinsA rs1565420196
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.2832G>T (p.Leu944=)
NM_000051.4(ATM):c.2832delinsTT (p.His945fs)
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+15A>G
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+28_2838+29insA
NM_000051.4(ATM):c.2838+2T>A
NM_000051.4(ATM):c.2838+3del
NM_000051.4(ATM):c.2838+5G>A rs1555083472
NM_000051.4(ATM):c.2838+5G>C
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>A (p.Met946Ile)
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.2839-25A>G rs2135546675
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.2839-351del rs199782940
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2839-3_2841del rs2135547107
NM_000051.4(ATM):c.2839-418TG[8] rs546616992
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.2839-581G>T
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>C (p.Met949Leu) rs1348704826
NM_000051.4(ATM):c.2845A>G (p.Met949Val) rs1348704826
NM_000051.4(ATM):c.2845A>T (p.Met949Leu)
NM_000051.4(ATM):c.2846T>C (p.Met949Thr) rs1591602201
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.2854A>G (p.Lys952Glu)
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.2858A>G (p.Glu953Gly)
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.2865T>G (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2867del (p.Gly956fs) rs2135547839
NM_000051.4(ATM):c.2868A>G (p.Gly956=) rs2135547882
NM_000051.4(ATM):c.2869G>T (p.Glu957Ter)
NM_000051.4(ATM):c.286G>A (p.Glu96Lys)
NM_000051.4(ATM):c.286G>T (p.Glu96Ter) rs1591452100
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.2875T>C (p.Tyr959His)
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.2882del (p.Leu961fs) rs587781805
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.2891A>T (p.Glu964Val) rs2081551575
NM_000051.4(ATM):c.2893G>C (p.Asp965His) rs1064793035
NM_000051.4(ATM):c.2894A>G (p.Asp965Gly)
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.2897_2899delinsGCCAA (p.Val966fs) rs730881301
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.28A>G (p.Ile10Val) rs876660671
NM_000051.4(ATM):c.2900T>G (p.Leu967Arg)
NM_000051.4(ATM):c.2901T>C (p.Leu967=) rs778731866
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.2906T>C (p.Leu969Pro) rs1591602563
NM_000051.4(ATM):c.2907_2909del (p.Leu970del) rs2135548669
NM_000051.4(ATM):c.2908C>G (p.Leu970Val)
NM_000051.4(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.4(ATM):c.2909T>A (p.Leu970Gln) rs587782521
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro) rs587782521
NM_000051.4(ATM):c.2910G>T (p.Leu970=)
NM_000051.4(ATM):c.2910_2921+10del
NM_000051.4(ATM):c.2912A>T (p.Lys971Ile) rs587781855
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.2913A>T (p.Lys971Asn)
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser) rs2135548838
NM_000051.4(ATM):c.2916A>G (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.2916A>T (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.2917C>A (p.Leu973Ile)
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>A (p.Ile97=) rs746762110
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+38G>C
NM_000051.4(ATM):c.2921+3A>C rs2135549049
NM_000051.4(ATM):c.2921+3A>T 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.2922-10_2922-8del rs373881770
NM_000051.4(ATM):c.2922-13T>C rs1565424946
NM_000051.4(ATM):c.2922-14T>C rs761100734
NM_000051.4(ATM):c.2922-17T>C rs1565424925
NM_000051.4(ATM):c.2922-17T>G
NM_000051.4(ATM):c.2922-18T>C
NM_000051.4(ATM):c.2922-18T>G
NM_000051.4(ATM):c.2922-1G>A rs1555084931
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2922-21_2922-20delinsG rs1555084900
NM_000051.4(ATM):c.2922-21_2922-20delinsGG rs1555084898
NM_000051.4(ATM):c.2922-22_2922-20delinsGG rs1555084880
NM_000051.4(ATM):c.2922-2A>T rs1591603471
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.2922-6C>A rs1346698280
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.2922-8dup rs373881770
NM_000051.4(ATM):c.2922-9T>C rs2135551080
NM_000051.4(ATM):c.2922-9_2922-8del
NM_000051.4(ATM):c.2922-9_2922-8dup
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.2923A>G (p.Asn975Asp)
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.2928_2931dup (p.Ser978fs)
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.292A>G (p.Ser98Gly)
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.2934T>C (p.Ser978=)
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>C (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2938T>C (p.Tyr980His)
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2939A>T (p.Tyr980Phe) rs1064794211
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter) rs748119565
NM_000051.4(ATM):c.2941C>A (p.Arg981Ser)
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>A (p.Arg981=)
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.294T>C (p.Ser98=)
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.2953G>T (p.Asp985Tyr)
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.2956G>T (p.Val986Phe)
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.2960G>T (p.Cys987Phe)
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.2963A>G (p.Lys988Arg)
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.4(ATM):c.2965del (p.Thr989fs) rs786203539
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.2969T>C (p.Ile990Thr)
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>A (p.Leu995Ile)
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.2989del (p.His996_Val997insTer)
NM_000051.4(ATM):c.2990T>C (p.Val997Ala) rs1555085101
NM_000051.4(ATM):c.2990del (p.Val997fs) rs2135552978
NM_000051.4(ATM):c.2991A>C (p.Val997=)
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.2994G>T (p.Val998=)
NM_000051.4(ATM):c.2994dup (p.Lys999fs) rs2135553051
NM_000051.4(ATM):c.2996A>G (p.Lys999Arg)
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.299T>C (p.Leu100Ser)
NM_000051.4(ATM):c.299_307del (p.Leu100_Lys102del) rs879254161
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.3000C>T (p.Asn1000=)
NM_000051.4(ATM):c.3001C>T (p.Leu1001=)
NM_000051.4(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.4(ATM):c.3004G>A (p.Gly1002Ser)
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>A (p.Gln1003Lys)
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.3008A>T (p.Gln1003Leu) rs1064815
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.3018G>A (p.Met1006Ile)
NM_000051.4(ATM):c.3019_3025del (p.Asp1007fs)
NM_000051.4(ATM):c.3020A>G (p.Asp1007Gly)
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu) rs1591604426
NM_000051.4(ATM):c.3021C>T (p.Asp1007=) rs1591604426
NM_000051.4(ATM):c.3021_3026del (p.Asp1007_Ser1008del) rs1591604413
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.3023del (p.Ser1008fs) rs2135553794
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.3025G>T (p.Glu1009Ter) rs1064794039
NM_000051.4(ATM):c.3026A>G (p.Glu1009Gly) rs1591604490
NM_000051.4(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs) rs1591604513
NM_000051.4(ATM):c.3029A>G (p.Asn1010Ser)
NM_000051.4(ATM):c.302T>A (p.Val101Asp)
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
NM_000051.4(ATM):c.3031A>C (p.Thr1011Pro) rs959314809
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.3032C>T (p.Thr1011Ile) 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.3035G>T (p.Arg1012Met)
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr) rs2135554187
NM_000051.4(ATM):c.3038dup (p.Asp1013fs) rs1131691163
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.3040G>C (p.Ala1014Pro)
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.3046G>T (p.Gly1016Ter) rs2081575204
NM_000051.4(ATM):c.3047G>A (p.Gly1016Glu) rs1565425832
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>A (p.Leu1019Ile) rs863224560
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.4(ATM):c.3058dup (p.Thr1020fs)
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>C (p.Val1021Leu)
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
NM_000051.4(ATM):c.3062T>G (p.Val1021Gly) rs786202399
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.3065T>C (p.Ile1022Thr)
NM_000051.4(ATM):c.3065T>G (p.Ile1022Ser) rs1591604769
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.3071C>G (p.Ala1024Gly) rs746133264
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+13T>A rs1057524204
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+18del rs1555085280
NM_000051.4(ATM):c.3077+19G>T rs1418513952
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3077+1G>C
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.3078-11C>A rs756972430
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3078-12_3078-10del
NM_000051.4(ATM):c.3078-12dup rs2081636986
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.3086C>T (p.Thr1029Ile)
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.3093G>T (p.Glu1031Asp)
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.3096G>T (p.Arg1032Ser) rs1555085805
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter) rs1591608334
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.3104T>C (p.Ile1035Thr) rs2135565634
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.3107T>C (p.Phe1036Ser)
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)
NM_000051.4(ATM):c.3108C>G (p.Phe1036Leu)
NM_000051.4(ATM):c.3108_3119delinsTAA (p.Ser1037_Met1040delinsLys)
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.3110C>T (p.Ser1037Phe) rs1555085821
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>A (p.Val1038Glu) rs1555085827
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>A (p.Arg1039Lys)
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.3125T>C (p.Leu1042Pro)
NM_000051.4(ATM):c.3125del (p.Leu1042fs)
NM_000051.4(ATM):c.3126A>T (p.Leu1042=)
NM_000051.4(ATM):c.3126_3137del (p.Val1043_Leu1046del)
NM_000051.4(ATM):c.3127G>A (p.Val1043Ile)
NM_000051.4(ATM):c.3128T>G (p.Val1043Gly) rs730881356
NM_000051.4(ATM):c.3129A>G (p.Val1043=)
NM_000051.4(ATM):c.3129A>T (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.3133T>A (p.Cys1045Ser) rs1565427891
NM_000051.4(ATM):c.3133T>C (p.Cys1045Arg)
NM_000051.4(ATM):c.3133T>G (p.Cys1045Gly) rs1565427891
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>A (p.Leu1046=)
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.3140A>T (p.Lys1047Ile)
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.3146dup (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.3147G>A (p.Leu1049=) rs1060501686
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+15_3153+16delinsA rs1555085918
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>C 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.3154-1G>T 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.3154-5_3154-4insAA rs1565428327
NM_000051.4(ATM):c.3154-7C>T rs756615573
NM_000051.4(ATM):c.3154-9T>C rs2135569385
NM_000051.4(ATM):c.3154G>A (p.Ala1052Thr) rs1064793036
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro) rs1064793036
NM_000051.4(ATM):c.3154G>T (p.Ala1052Ser)
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly) rs876660350
NM_000051.4(ATM):c.3156T>C (p.Ala1052=) rs1591609406
NM_000051.4(ATM):c.3157G>A (p.Asp1053Asn) rs876660172
NM_000051.4(ATM):c.3157G>C (p.Asp1053His) rs876660172
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.3164A>G (p.Tyr1055Cys) rs2081658652
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter) rs1565428419
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
NM_000051.4(ATM):c.3167C>T (p.Ser1056Leu)
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
NM_000051.4(ATM):c.3169A>C (p.Lys1057Gln)
NM_000051.4(ATM):c.3169A>T (p.Lys1057Ter)
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.3172T>A (p.Trp1058Arg) rs1555085992
NM_000051.4(ATM):c.3172T>G (p.Trp1058Gly)
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
NM_000051.4(ATM):c.3173G>T (p.Trp1058Leu)
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>G (p.Lys1066=) 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>C (p.Asp1067His)
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.31T>C (p.Cys11Arg)
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>A (p.Pro1069Thr) rs751714261
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.3208G>T (p.Val1070Leu) rs587780620
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu) rs2135571268
NM_000051.4(ATM):c.320G>T (p.Cys107Phe) rs142358238
NM_000051.4(ATM):c.320dup (p.Cys107fs) rs2078893430
NM_000051.4(ATM):c.3210A>G (p.Val1070=) rs1443665212
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.3218_3227del (p.Val1073fs)
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.321T>A (p.Cys107Ter)
NM_000051.4(ATM):c.3220T>C (p.Phe1074Leu)
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>G (p.Gln1076Glu) rs2135571727
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.3229T>G (p.Phe1077Val) 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.3236C>T (p.Ala1079Val)
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>C (p.Asp1080Ala)
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.3240C>T (p.Asp1080=)
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.3243TCA[1] (p.His1083del) rs1591609996
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.3247_3260del (p.His1083fs)
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>C (p.Met1087Leu)
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.3263del (p.Leu1088fs)
NM_000051.4(ATM):c.3265G>A (p.Ala1089Thr) rs730881358
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.3267T>C (p.Ala1089=)
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>C (p.Ser1092=)
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+1G>T 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+5T>C
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.3285-12_3285-10delinsAC rs2082112773
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.3285-16G>T rs1057524332
NM_000051.4(ATM):c.3285-2308_3994-1478dup
NM_000051.4(ATM):c.3285-2698G>A
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.3285-31TTTG[3] rs750490644
NM_000051.4(ATM):c.3285-31TTTG[5] rs750490644
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3285-5T>G
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.3285-9_3285-5delinsGTTC rs1064796108
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3285A>G (p.Arg1095=)
NM_000051.4(ATM):c.3285A>T (p.Arg1095Ser) rs2082114209
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser) rs2082114508
NM_000051.4(ATM):c.3287T>G (p.Leu1096Trp)
NM_000051.4(ATM):c.3288G>A (p.Leu1096=) rs2135642354
NM_000051.4(ATM):c.3288G>T (p.Leu1096Phe)
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
NM_000051.4(ATM):c.328A>G (p.Arg110Gly) rs2078893781
NM_000051.4(ATM):c.3290T>C (p.Phe1097Ser) rs1591631881
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.3296_3318del (p.Asp1099fs)
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.3301A>G (p.Lys1101Glu)
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.3305G>A (p.Gly1102Glu) rs2135642803
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>C (p.Asp1103=)
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+1G>C
NM_000051.4(ATM):c.331+20A>G
NM_000051.4(ATM):c.331+21_331+26del rs2078895533
NM_000051.4(ATM):c.331+2800A>G
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.331+2T>G rs1555055358
NM_000051.4(ATM):c.331+2_331+7del
NM_000051.4(ATM):c.331+37C>T
NM_000051.4(ATM):c.331+3A>C rs2078894221
NM_000051.4(ATM):c.331+3A>G
NM_000051.4(ATM):c.331+3A>T
NM_000051.4(ATM):c.331+48C>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+68_331+69dup rs11390378
NM_000051.4(ATM):c.331+69del rs11390378
NM_000051.4(ATM):c.331+69dup rs11390378
NM_000051.4(ATM):c.331+6T>G rs1555055363
NM_000051.4(ATM):c.331+8A>G rs878853503
NM_000051.4(ATM):c.3310T>C (p.Ser1104Pro)
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>G (p.Ser1105=) rs1565439055
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.3317G>C (p.Arg1106Thr)
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
NM_000051.4(ATM):c.3318del (p.Arg1106fs)
NM_000051.4(ATM):c.332-1009A>T
NM_000051.4(ATM):c.332-1015T>G
NM_000051.4(ATM):c.332-11T>A
NM_000051.4(ATM):c.332-11T>C rs1565356404
NM_000051.4(ATM):c.332-159del rs535426066
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.332-1G>C
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.332-5A>T rs1057522447
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.3320T>C (p.Leu1107Ser)
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.3322C>T (p.Leu1108=) rs1555090147
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.3332T>G (p.Leu1111Arg) rs876658363
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.3334_3336del (p.Pro1112del)
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.4(ATM):c.3335C>T (p.Pro1112Leu) rs1064795850
NM_000051.4(ATM):c.3335del (p.Pro1112fs) rs876660031
NM_000051.4(ATM):c.3335dup (p.Leu1113fs) 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.3340A>T (p.Lys1114Ter) 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.3345T>C (p.Leu1115=)
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.3348del (p.Gln1116fs)
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer) rs1064796055
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.3356_3357del (p.Ala1119fs)
NM_000051.4(ATM):c.3357T>G (p.Ala1119=) rs1591632314
NM_000051.4(ATM):c.3358T>C (p.Phe1120Leu)
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.3363A>G (p.Glu1121=)
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.3370del (p.Tyr1124fs)
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>A (p.Leu1125Met)
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.3384G>A (p.Gln1128=) rs1565439537
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys) rs876658463
NM_000051.4(ATM):c.3385G>C (p.Glu1129Gln)
NM_000051.4(ATM):c.3387del (p.Gly1130fs) rs1591632498
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.3390A>C (p.Gly1130=)
NM_000051.4(ATM):c.3391del (p.Gly1130_Met1131insTer)
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.3394A>T (p.Arg1132Ter)
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.3401T>C (p.Met1134Thr)
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>C rs1565439606
NM_000051.4(ATM):c.3402+1G>T rs1565439606
NM_000051.4(ATM):c.3402+2T>C rs876659430
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3402+39T>C
NM_000051.4(ATM):c.3402+3A>C rs786203688
NM_000051.4(ATM):c.3402G>T (p.Met1134Ile)
NM_000051.4(ATM):c.3403-12_3403-4delinsATTTC
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-13_3403-12insC rs1555091099
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3403-14_3403-13dup rs3218681
NM_000051.4(ATM):c.3403-14_3403-13insG rs1555091097
NM_000051.4(ATM):c.3403-14_3403-13insT rs1555091097
NM_000051.4(ATM):c.3403-15_3403-14dup rs2135664759
NM_000051.4(ATM):c.3403-15del
NM_000051.4(ATM):c.3403-15delinsAA rs1555091094
NM_000051.4(ATM):c.3403-15delinsAAA rs1555091094
NM_000051.4(ATM):c.3403-15delinsATA rs1555091094
NM_000051.4(ATM):c.3403-15dup rs1555091083
NM_000051.4(ATM):c.3403-16_3403-15dup
NM_000051.4(ATM):c.3403-16_3403-15inv
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3403-1G>T
NM_000051.4(ATM):c.3403-1_3577-680del
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-5T>G
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.3403T>G (p.Ser1135Ala) rs1565441341
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr) rs2082202102
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer) rs1591636185
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
NM_000051.4(ATM):c.3405C>T (p.Ser1135=) rs746829748
NM_000051.4(ATM):c.3406C>G (p.His1136Asp) rs2082202374
NM_000051.4(ATM):c.3408T>C (p.His1136=)
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.340del (p.Arg114fs)
NM_000051.4(ATM):c.3410G>A (p.Ser1137Asn) rs876659633
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)
NM_000051.4(ATM):c.3414T>C (p.Ala1138=) rs1565441410
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>C (p.Asn1140Thr) rs2082203374
NM_000051.4(ATM):c.3419A>G (p.Asn1140Ser)
NM_000051.4(ATM):c.3419del (p.Asn1140fs) rs1555091141
NM_000051.4(ATM):c.341G>A (p.Arg114Lys)
NM_000051.4(ATM):c.3420C>A (p.Asn1140Lys)
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.3430_3431del (p.Leu1144fs) rs1555091158
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>A (p.Asp1145Glu) rs2082204446
NM_000051.4(ATM):c.3435T>C (p.Asp1145=) rs2082204446
NM_000051.4(ATM):c.3435T>G (p.Asp1145Glu) rs2082204446
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
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.343C>T (p.Leu115=) 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.3445A>T (p.Asn1149Tyr)
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>C (p.Arg1150=) rs786201209
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.344T>G (p.Leu115Arg) rs876659791
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.3451A>T (p.Lys1151Ter) rs1555091196
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.3456T>G (p.Ser1152=) rs2135666779
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.3459T>G (p.Val1153=)
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.3465G>A (p.Leu1155=)
NM_000051.4(ATM):c.3465G>C (p.Leu1155=)
NM_000051.4(ATM):c.3465G>T (p.Leu1155=)
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.3473T>A (p.Ile1158Lys)
NM_000051.4(ATM):c.3474A>C (p.Ile1158=)
NM_000051.4(ATM):c.3475G>A (p.Ala1159Thr)
NM_000051.4(ATM):c.3475G>C (p.Ala1159Pro)
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser) rs2135667356
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
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.3486A>G (p.Leu1162=)
NM_000051.4(ATM):c.3487T>C (p.Ser1163Pro)
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>C (p.Cys1164Arg)
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.3491G>C (p.Cys1164Ser)
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.3498T>G (p.Pro1166=)
NM_000051.4(ATM):c.3499A>C (p.Ile1167Leu) rs1222634243
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.4(ATM):c.349T>C (p.Cys117Arg)
NM_000051.4(ATM):c.349T>G (p.Cys117Gly) rs1555059059
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.3502T>A (p.Cys1168Ser) rs749933079
NM_000051.4(ATM):c.3503G>A (p.Cys1168Tyr)
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3506A>G (p.Glu1169Gly)
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.3508A>G (p.Lys1170Glu) rs1555091295
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.3510A>G (p.Lys1170=) rs2135668576
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>C (p.Gln1171Pro) rs1555091325
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
NM_000051.4(ATM):c.3512_3513del (p.Gln1171fs)
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.3514G>T (p.Ala1172Ser) rs779946941
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val) rs2082210652
NM_000051.4(ATM):c.3516T>G (p.Ala1172=)
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val) rs141460670
NM_000051.4(ATM):c.3518del (p.Leu1173fs) rs1591636817
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.3524C>A (p.Ala1175Asp) rs2135669077
NM_000051.4(ATM):c.3524C>T (p.Ala1175Val)
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro) rs587782762
NM_000051.4(ATM):c.3527T>G (p.Leu1176Arg) 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>A (p.Cys1177Tyr) rs587782470
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.3534A>T (p.Lys1178Asn)
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro) rs2135669484
NM_000051.4(ATM):c.3536C>A (p.Ser1179Tyr)
NM_000051.4(ATM):c.3537T>C (p.Ser1179=)
NM_000051.4(ATM):c.3537T>G (p.Ser1179=)
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.3540G>A (p.Val1180=)
NM_000051.4(ATM):c.3540G>T (p.Val1180=)
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs) rs746598992
NM_000051.4(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.4(ATM):c.3544G>A (p.Glu1182Lys)
NM_000051.4(ATM):c.3545A>T (p.Glu1182Val) rs1555091393
NM_000051.4(ATM):c.3546G>T (p.Glu1182Asp) rs1591637015
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.3548del (p.Asn1183fs)
NM_000051.4(ATM):c.3549T>A (p.Asn1183Lys)
NM_000051.4(ATM):c.354A>G (p.Gln118=) rs1188306380
NM_000051.4(ATM):c.3550G>A (p.Gly1184Arg) rs1555091402
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.3551del (p.Gly1184fs)
NM_000051.4(ATM):c.3552A>C (p.Gly1184=)
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.3560del (p.Pro1187fs)
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>G (p.Leu1189Val) rs370602633
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.3568G>C (p.Val1190Leu) rs876660708
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.3569del (p.Val1190fs)
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>A rs1057523063
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+28A>C rs3092851
NM_000051.4(ATM):c.3576+3A>G rs2082214908
NM_000051.4(ATM):c.3576+3_3576+5delinsGAG
NM_000051.4(ATM):c.3576+4T>C rs1591637164
NM_000051.4(ATM):c.3576+687delinsTTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091761
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.3576_3576+7del
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.3577-14_3577-12del rs730881288
NM_000051.4(ATM):c.3577-157A>C rs190528933
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.3577-17_3577-16delinsA rs2082291998
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>A
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3577-1G>T
NM_000051.4(ATM):c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT
NM_000051.4(ATM):c.3577-20T>G rs921452019
NM_000051.4(ATM):c.3577-242_3577-233del rs138417879
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3577-30C>G rs751436997
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.3577-46T>C
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.3592T>G (p.Ser1198Ala)
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.359T>G (p.Leu120Arg)
NM_000051.4(ATM):c.35G>A (p.Cys12Tyr) rs1591445899
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.3604G>T (p.Gly1202Ter) rs536110861
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>A (p.Tyr1203Ter)
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.3611G>A (p.Arg1204Lys) rs786203066
NM_000051.4(ATM):c.3612A>C (p.Arg1204Ser)
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
NM_000051.4(ATM):c.3613_3614insTTTATGTTTAGAA (p.Arg1205delinsLeuTyrValTer)
NM_000051.4(ATM):c.3614G>T (p.Arg1205Leu)
NM_000051.4(ATM):c.3616T>C (p.Leu1206=)
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
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.3617_3621delinsG (p.Leu1206fs) rs876660783
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.3619G>T (p.Glu1207Ter) rs772724024
NM_000051.4(ATM):c.361T>C (p.Leu121=) rs587782178
NM_000051.4(ATM):c.361T>G (p.Leu121Val)
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.3623dup (p.Asp1208fs)
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
NM_000051.4(ATM):c.3625T>A (p.Phe1209Ile) rs1555092334
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.3630G>T (p.Met1210Ile) rs587778073
NM_000051.4(ATM):c.3630_3631delinsTT (p.Met1210_Ala1211delinsIleSer) rs1555092353
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr) rs745467552
NM_000051.4(ATM):c.3631G>T (p.Ala1211Ser) rs745467552
NM_000051.4(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)
NM_000051.4(ATM):c.3633A>G (p.Ala1211=) rs2135688329
NM_000051.4(ATM):c.3634T>G (p.Ser1212Ala) rs1131691390
NM_000051.4(ATM):c.3635_3646del (p.Ser1212_Asp1215del) rs1064795717
NM_000051.4(ATM):c.3636T>C (p.Ser1212=) rs2135688431
NM_000051.4(ATM):c.3637C>T (p.His1213Tyr) rs1064793387
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.3646del (p.Tyr1216fs)
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter) rs1591641318
NM_000051.4(ATM):c.3648del (p.Leu1217fs) rs2135688794
NM_000051.4(ATM):c.3649C>T (p.Leu1217=)
NM_000051.4(ATM):c.364A>G (p.Asn122Asp) rs2079236749
NM_000051.4(ATM):c.364_368del (p.Asn122fs) rs1555059095
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.3656del (p.Leu1219fs)
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>A (p.Trp1221Arg) rs1565444832
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg) rs1565444832
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter) rs2135689111
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>C (p.Asn1223His) rs1436681116
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.3672T>C (p.Leu1224=)
NM_000051.4(ATM):c.3672T>G (p.Leu1224=)
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.3675A>C (p.Gln1225His)
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.3680C>T (p.Thr1227Ile) rs1229454563
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.3681_3687del (p.Glu1228fs) rs1591641462
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.3691T>G (p.Leu1231Val)
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.3693A>T (p.Leu1231Phe) rs1372849076
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs) rs1555092477
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
NM_000051.4(ATM):c.3694T>G (p.Ser1232Ala) rs183532834
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>A (p.Ser1233Tyr)
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>C (p.Phe1234=)
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.3704del (p.Pro1235fs) rs876658455
NM_000051.4(ATM):c.3707T>C (p.Phe1236Ser) rs2082306350
NM_000051.4(ATM):c.3707T>G (p.Phe1236Cys)
NM_000051.4(ATM):c.3708T>C (p.Phe1236=)
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.3714A>T (p.Leu1238Phe) rs2082306739
NM_000051.4(ATM):c.3716T>G (p.Leu1239Ter)
NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT (p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer) rs2135690630
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)
NM_000051.4(ATM):c.3719A>G (p.Asn1240Ser) rs1555092536
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.3722A>T (p.Tyr1241Phe) rs587782688
NM_000051.4(ATM):c.3723del (p.Asn1240_Tyr1241insTer)
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>C (p.Asn1243Thr) rs730881363
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>A (p.Ile1244=)
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.3735G>A (p.Glu1245=) rs1565445196
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+17C>G rs1057520850
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+3A>T
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+5G>C
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.3747-15T>C
NM_000051.4(ATM):c.3747-16A>T
NM_000051.4(ATM):c.3747-173T>C rs373028945
NM_000051.4(ATM):c.3747-19T>C
NM_000051.4(ATM):c.3747-1G>A rs730881364
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-1G>T
NM_000051.4(ATM):c.3747-28C>A
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3747-304G>A rs4987991
NM_000051.4(ATM):c.3747-304G>T rs4987991
NM_000051.4(ATM):c.3747-3_3751del rs1555093256
NM_000051.4(ATM):c.3747-3dup rs2135703985
NM_000051.4(ATM):c.3747-43A>T
NM_000051.4(ATM):c.3747-4T>C
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>A (p.Ser1250Thr) rs1555093268
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.3754T>C (p.Tyr1252His) rs2135704307
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.3755dup (p.Tyr1252Ter) rs1591645340
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.3756del (p.Cys1251_Tyr1252insTer) rs2135704461
NM_000051.4(ATM):c.3758A>C (p.Lys1253Thr)
NM_000051.4(ATM):c.3758A>G (p.Lys1253Arg)
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs) rs2135704536
NM_000051.4(ATM):c.3759G>A (p.Lys1253=)
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.376_382del (p.Met125_Asp126insTer) rs1591474736
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.3774T>A (p.His1258Gln) rs786203114
NM_000051.4(ATM):c.3775C>T (p.Leu1259=)
NM_000051.4(ATM):c.3777G>C (p.Leu1259=)
NM_000051.4(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.3778del (p.Leu1259_Val1260insTer) rs2082375273
NM_000051.4(ATM):c.3779T>A (p.Val1260Glu)
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.3780dup (p.Ile1261fs) rs786202694
NM_000051.4(ATM):c.3782T>G (p.Ile1261Ser)
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.3797A>G (p.Asp1266Gly)
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.3801G>C (p.Glu1267Asp)
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.380C>T (p.Thr127Ile) rs2079238567
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.3812T>G (p.Ile1271Ser) rs1308232635
NM_000051.4(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.4(ATM):c.3813del (p.Ile1271fs)
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.3824T>C (p.Ile1275Thr)
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro) rs770183693
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg) 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.3829G>T (p.Glu1277Ter)
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.3845T>C (p.Leu1282Pro) rs1591645828
NM_000051.4(ATM):c.3845T>G (p.Leu1282Arg) rs1591645828
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.3851C>T (p.Thr1284Ile) 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.3856T>C (p.Cys1286Arg) rs2082381435
NM_000051.4(ATM):c.3857G>A (p.Cys1286Tyr) rs876660770
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.3873T>G (p.Leu1291=) rs1565447438
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu) rs878853506
NM_000051.4(ATM):c.3875T>A (p.Val1292Glu)
NM_000051.4(ATM):c.3875T>C (p.Val1292Ala) rs1555093556
NM_000051.4(ATM):c.3876A>T (p.Val1292=)
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.387dup (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val) rs1478504213
NM_000051.4(ATM):c.3880A>T (p.Ile1294Phe) 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>G (p.Pro1296Ala) rs864622654
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3886_3888delinsACA (p.Pro1296Thr) rs876660859
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3887C>T (p.Pro1296Leu)
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.3901G>A (p.Glu1301Lys)
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
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.3904G>T (p.Gly1302Cys)
NM_000051.4(ATM):c.3905G>A (p.Gly1302Asp)
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val) rs761673223
NM_000051.4(ATM):c.3906T>C (p.Gly1302=) rs1565447594
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.4(ATM):c.3907_3925del (p.Thr1303fs)
NM_000051.4(ATM):c.3908C>A (p.Thr1303Asn)
NM_000051.4(ATM):c.3908C>G (p.Thr1303Ser)
NM_000051.4(ATM):c.3908C>T (p.Thr1303Ile)
NM_000051.4(ATM):c.3908_3910del (p.Thr1303del)
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>C (p.Asp130=) 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.3912A>G (p.Arg1304=)
NM_000051.4(ATM):c.3915C>G (p.Asp1305Glu) rs1429663437
NM_000051.4(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.4(ATM):c.3916A>G (p.Ser1306Gly)
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs) rs2135708324
NM_000051.4(ATM):c.3917G>A (p.Ser1306Asn)
NM_000051.4(ATM):c.3917G>C (p.Ser1306Thr) rs1555093629
NM_000051.4(ATM):c.3918T>A (p.Ser1306Arg)
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.391T>C (p.Ser131Pro) rs876658263
NM_000051.4(ATM):c.391dup (p.Ser131fs) rs2079239543
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu) rs2082385270
NM_000051.4(ATM):c.3921del (p.Met1308fs)
NM_000051.4(ATM):c.3922A>T (p.Met1308Leu) rs2135708488
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.3925_3926insATGA (p.Ala1309fs)
NM_000051.4(ATM):c.3926_3929dup (p.Gln1310fs) rs1555093659
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
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.3930G>A (p.Gln1310=)
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.3937G>T (p.Glu1313Ter)
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly) rs1555093695
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp) rs2082386564
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.393A>G (p.Ser131=)
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile) rs751678973
NM_000051.4(ATM):c.3942T>C (p.Thr1314=) rs558360643
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser) rs1064794757
NM_000051.4(ATM):c.3944C>T (p.Ala1315Val)
NM_000051.4(ATM):c.3945T>A (p.Ala1315=) rs2135709163
NM_000051.4(ATM):c.3946A>C (p.Thr1316Pro)
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.3952G>C (p.Val1318Leu)
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly) rs1565447790
NM_000051.4(ATM):c.3954C>G (p.Val1318=) rs2082387502
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.3961dup (p.Met1321fs) rs1591646429
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.3967A>G (p.Lys1323Glu) rs1341465811
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>A (p.Ser1324Arg) rs1165340615
NM_000051.4(ATM):c.3972T>C (p.Ser1324=)
NM_000051.4(ATM):c.3973G>T (p.Glu1325Ter)
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>C (p.Leu1327Phe)
NM_000051.4(ATM):c.3981A>G (p.Leu1327=)
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3983del (p.Leu1328fs)
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+10C>T rs587782262
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>A
NM_000051.4(ATM):c.3993+2T>C rs2135710273
NM_000051.4(ATM):c.3993+3A>T
NM_000051.4(ATM):c.3993+40G>T
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.3994-157_3994-156del rs1555095694
NM_000051.4(ATM):c.3994-15T>A rs2135734597
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-162G>A
NM_000051.4(ATM):c.3994-16T>A
NM_000051.4(ATM):c.3994-18A>T
NM_000051.4(ATM):c.3994-1G>A
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-2A>C rs587782276
NM_000051.4(ATM):c.3994-2A>T
NM_000051.4(ATM):c.3994-32A>G
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.3994A>G (p.Ile1332Val)
NM_000051.4(ATM):c.3994del (p.Ile1332fs)
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.3996del (p.Ile1332fs) rs1555095807
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn) rs1591655512
NM_000051.4(ATM):c.3997_3998insCCACCATGCCAGGCTTCTGCGGATGCTTATACGCCTTCAAACCACCGGCCAGCTTGCCCTCCTGCGTGAAGGGAACCGAT (p.Asp1333fs) rs2135735043
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.4006T>G (p.Phe1336Val)
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.4022C>T (p.Pro1341Leu) rs1555095890
NM_000051.4(ATM):c.4023del (p.Glu1342fs)
NM_000051.4(ATM):c.4024G>A (p.Glu1342Lys) rs1555095899
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>C (p.Val1344Leu)
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.4038del (p.Glu1346fs)
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.4044G>C (p.Leu1348Phe)
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.4051T>A (p.Leu1351Ile) rs1591655873
NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter) rs1565452687
NM_000051.4(ATM):c.4052T>C (p.Leu1351Ser)
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.4057G>T (p.Glu1353Ter)
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>G (p.Pro1354=)
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.4077C>T (p.Ala1359=)
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.4079G>T (p.Ser1360Ile)
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>G (p.Gln1361Glu) rs121434222
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.4084_4085del (p.Ser1362fs) rs886039488
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)
NM_000051.4(ATM):c.4085G>C (p.Ser1362Thr)
NM_000051.4(ATM):c.4085G>T (p.Ser1362Ile) rs923836140
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.4088C>T (p.Thr1363Ile)
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>A (p.Leu1365=)
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.4095_4096dup (p.Cys1366fs) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4099G>T (p.Asp1367Tyr)
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.4106C>G (p.Ser1369Ter)
NM_000051.4(ATM):c.4107A>G (p.Ser1369=) rs2135738048
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
NM_000051.4(ATM):c.4108G>C (p.Gly1370Arg) rs1301806793
NM_000051.4(ATM):c.4108G>T (p.Gly1370Trp)
NM_000051.4(ATM):c.4109+10T>A rs1236628481
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+15A>C rs1057523527
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+56G>T rs555315909
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.4110-17dup rs2082636307
NM_000051.4(ATM):c.4110-18T>C rs1057523967
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.4110-37A>T
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>A (p.Gly1370=) rs2082638172
NM_000051.4(ATM):c.4110G>C (p.Gly1370=) rs2082638172
NM_000051.4(ATM):c.4111G>A (p.Asp1371Asn) rs1565454823
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.4118A>G (p.Asp1373Gly)
NM_000051.4(ATM):c.4118A>T (p.Asp1373Val)
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.4122T>C (p.Pro1374=)
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr) rs2135750720
NM_000051.4(ATM):c.4123G>T (p.Ala1375Ser) 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.4138C>G (p.His1380Asp)
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.4143del (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4144C>G (p.Pro1382Ala)
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>C (p.Ser1383=)
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.4151A>T (p.His1384Leu)
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.4155G>T (p.Val1385=)
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val) rs1555096895
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.4161A>C (p.Lys1387Asn)
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
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.4164A>G (p.Ala1388=)
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>G (p.Ala1391Gly)
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val) rs1591660560
NM_000051.4(ATM):c.4173C>A (p.Ala1391=)
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.4175delinsTG (p.Tyr1392fs) rs2135752319
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.4182C>T (p.Ser1394=) rs2082644520
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.4197dup (p.Lys1400fs) rs2082645600
NM_000051.4(ATM):c.4198A>C (p.Lys1400Gln) rs587781950
NM_000051.4(ATM):c.4199A>C (p.Lys1400Thr)
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.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs) rs1591660745
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.4207A>G (p.Ser1403Gly) rs768726324
NM_000051.4(ATM):c.4208G>A (p.Ser1403Asn)
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.4211T>C (p.Ile1404Thr) rs1555096989
NM_000051.4(ATM):c.4212T>C (p.Ile1404=)
NM_000051.4(ATM):c.4213T>G (p.Leu1405Val)
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer) rs2082646632
NM_000051.4(ATM):c.4215A>G (p.Leu1405=)
NM_000051.4(ATM):c.4217A>G (p.Glu1406Gly)
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val) rs1382006540
NM_000051.4(ATM):c.4219del (p.Ile1407fs)
NM_000051.4(ATM):c.421T>C (p.Cys141Arg)
NM_000051.4(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.4(ATM):c.4220T>C (p.Ile1407Thr)
NM_000051.4(ATM):c.4221T>C (p.Ile1407=)
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.4226C>A (p.Ser1409Tyr) rs730881368
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.4228A>T (p.Lys1410Ter)
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.422G>T (p.Cys141Phe)
NM_000051.4(ATM):c.422dup (p.Cys141fs) rs2079242252
NM_000051.4(ATM):c.4231_4232del (p.Ser1411fs)
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.4235C>A (p.Pro1412His)
NM_000051.4(ATM):c.4236+10C>T rs2135754219
NM_000051.4(ATM):c.4236+11A>C rs368684533
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+2T>C
NM_000051.4(ATM):c.4236+2_4236+3dup
NM_000051.4(ATM):c.4236+2_4236+3insCT rs1185729358
NM_000051.4(ATM):c.4236+2dup
NM_000051.4(ATM):c.4236+3A>G rs762329707
NM_000051.4(ATM):c.4236+4A>G
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>C (p.Pro1412=)
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.4237-29A>G
NM_000051.4(ATM):c.4237-2A>G rs1591662492
NM_000051.4(ATM):c.4237-3T>C
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>G (p.Asp1413Gly) rs2082669585
NM_000051.4(ATM):c.4238A>T (p.Asp1413Val)
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.423T>A (p.Cys141Ter)
NM_000051.4(ATM):c.4240T>C (p.Ser1414Pro)
NM_000051.4(ATM):c.4241C>G (p.Ser1414Cys) rs876659292
NM_000051.4(ATM):c.4241C>T (p.Ser1414Phe)
NM_000051.4(ATM):c.4242C>G (p.Ser1414=) rs2135759239
NM_000051.4(ATM):c.4242C>T (p.Ser1414=) rs2135759239
NM_000051.4(ATM):c.4242del (p.Tyr1415fs)
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.4248G>C (p.Gln1416His) rs1233637041
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter) rs1591662598
NM_000051.4(ATM):c.424A>G (p.Ser142Gly)
NM_000051.4(ATM):c.4252A>G (p.Ile1418Val)
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.4256T>G (p.Leu1419Arg)
NM_000051.4(ATM):c.4256_4258delinsCTT (p.Leu1419_Leu1420delinsProPhe)
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)
NM_000051.4(ATM):c.4258C>G (p.Leu1420Val)
NM_000051.4(ATM):c.4259T>C (p.Leu1420Pro) rs1591662657
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>G (p.Ala1421=) rs1373073134
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.4267del (p.Cys1423fs)
NM_000051.4(ATM):c.426C>T (p.Ser142=)
NM_000051.4(ATM):c.4270G>T (p.Glu1424Ter)
NM_000051.4(ATM):c.4271A>G (p.Glu1424Gly) rs1555097423
NM_000051.4(ATM):c.4274A>G (p.Gln1425Arg) rs2082671727
NM_000051.4(ATM):c.4276G>A (p.Ala1426Thr)
NM_000051.4(ATM):c.4277C>A (p.Ala1426Glu)
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.4284A>C (p.Glu1428Asp) rs1555097441
NM_000051.4(ATM):c.4287A>C (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4287A>G (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4289A>G (p.Asn1430Ser) rs876658870
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.4292A>T (p.Asn1431Ile)
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.4306C>G (p.His1436Asp)
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.4310G>T (p.Arg1437Ile)
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.4313T>G (p.Ile1438Ser) rs1591663009
NM_000051.4(ATM):c.4315C>G (p.Leu1439Val) rs1591663019
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>C (p.Lys1440Gln)
NM_000051.4(ATM):c.4318A>G (p.Lys1440Glu)
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>C (p.Ile1441=) rs587779839
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.4328A>G (p.His1443Arg)
NM_000051.4(ATM):c.4329C>G (p.His1443Gln)
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.4332_4337delinsTAAAA (p.Phe1445fs) rs1064795394
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.4335dup (p.Val1446fs) rs1555097571
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.433C>A (p.Leu145Ile) rs587782328
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg) rs1565456454
NM_000051.4(ATM):c.4341T>C (p.Ser1447=) 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.4344A>T (p.Leu1448Phe)
NM_000051.4(ATM):c.4344dup (p.Leu1449fs) rs1555097604
NM_000051.4(ATM):c.4345T>C (p.Leu1449=) rs786201555
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.4348C>T (p.Leu1450=) rs1555097622
NM_000051.4(ATM):c.4348del (p.Leu1449_Leu1450insTer)
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.4353A>G (p.Lys1451=) rs1565456555
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.4359_4363del (p.Ile1453fs) rs587782863
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>G (p.Gly1456=) rs1555097677
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)
NM_000051.4(ATM):c.4369T>G (p.Leu1457Val)
NM_000051.4(ATM):c.436C>G (p.Leu146Val)
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.4373G>A (p.Gly1458Glu)
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4374_4377dup (p.Ala1460fs) rs2135764458
NM_000051.4(ATM):c.4377A>C (p.Gly1459=) rs1565456710
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.4380T>G (p.Ala1460=) rs1565456739
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.4(ATM):c.4381T>G (p.Trp1461Gly) rs982008501
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.4(ATM):c.4384G>C (p.Ala1462Pro)
NM_000051.4(ATM):c.4385C>A (p.Ala1462Asp)
NM_000051.4(ATM):c.4385C>T (p.Ala1462Val)
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.4393C>G (p.Leu1465Val)
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.43C>T (p.Leu15=)
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.4401C>G (p.Asp1467Glu)
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.4405del (p.Ile1469fs) rs886041938
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_441del (p.Lys147fs)
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.4410T>G (p.Tyr1470Ter)
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4412C>A (p.Thr1471Asn)
NM_000051.4(ATM):c.4413T>G (p.Thr1471=) rs2135766153
NM_000051.4(ATM):c.4413_4431del (p.Leu1472fs)
NM_000051.4(ATM):c.4414_4423del (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.4415T>G (p.Leu1472Trp)
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.4(ATM):c.4416G>C (p.Leu1472Phe)
NM_000051.4(ATM):c.4416G>T (p.Leu1472Phe)
NM_000051.4(ATM):c.4416del (p.Ile1473fs) rs886039697
NM_000051.4(ATM):c.4419T>A (p.Ile1473=)
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.4421_4432delinsCAACT (p.His1474fs)
NM_000051.4(ATM):c.4422C>G (p.His1474Gln)
NM_000051.4(ATM):c.4422C>T (p.His1474=) rs1555097849
NM_000051.4(ATM):c.4423T>G (p.Tyr1475Asp) rs1475596724
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>A (p.Ile1476=)
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.442dup (p.Asp148fs) rs1555059380
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.4435_4436+10del
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+163_4436+165dup rs201061190
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+20C>G rs1057523454
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>G rs769462032
NM_000051.4(ATM):c.4437-13C>T rs769462032
NM_000051.4(ATM):c.4437-14T>A rs900984301
NM_000051.4(ATM):c.4437-14del rs730881290
NM_000051.4(ATM):c.4437-14dup rs730881290
NM_000051.4(ATM):c.4437-15T>G
NM_000051.4(ATM):c.4437-1G>A rs759520465
NM_000051.4(ATM):c.4437-32GTT[3]
NM_000051.4(ATM):c.4437-3T>C rs1555099722
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>A (p.Pro1480Thr)
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser) rs2082856332
NM_000051.4(ATM):c.4439C>G (p.Pro1480Arg) rs200456625
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>C (p.Cys1482Ser) rs201277352
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.4453_4456del (p.Asp1485fs)
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.4455T>G (p.Asp1485Glu)
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.4456G>T (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.4460C>G (p.Ser1487Ter) rs1591673803
NM_000051.4(ATM):c.4461A>C (p.Ser1487=)
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.4471T>G (p.Phe1491Val) rs587781944
NM_000051.4(ATM):c.4475C>G (p.Ser1492Cys)
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val) rs377595814
NM_000051.4(ATM):c.4478T>G (p.Leu1493Arg)
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.4486G>C (p.Asp1496His)
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>G (p.Leu150Val) rs1555059404
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.4492T>A (p.Leu1498Ile)
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.4493_4497del (p.Leu1498fs)
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.4498C>G (p.Gln1500Glu) rs1591674064
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
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.4499A>T (p.Gln1500Leu)
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.4514C>T (p.Ala1505Val) rs1064795883
NM_000051.4(ATM):c.4515C>A (p.Ala1505=) rs540798997
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.4517T>C (p.Val1506Ala) 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.4523A>G (p.Tyr1508Cys) rs1565461319
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>A (p.Ser151Tyr)
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.452_453del (p.Ser151fs)
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>G (p.Asp1511Gly) rs1591674356
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>A (p.Ala1512Asp) rs1591674385
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.454G>A (p.Val152Met)
NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer) rs1555059421
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.4560T>G (p.Ile1520Met)
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.4563_4565delinsCA (p.Gly1522fs)
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.4572del (p.Ile1525fs) rs2135801606
NM_000051.4(ATM):c.4574_4578delinsCT (p.Ile1525_Pro1526delinsThr) rs1591674657
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.4578C>G (p.Pro1526=)
NM_000051.4(ATM):c.4578_4580delinsTCG (p.Leu1527Arg)
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.4580T>C (p.Leu1527Pro)
NM_000051.4(ATM):c.4580T>G (p.Leu1527Arg)
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.4584dup (p.Tyr1529fs)
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.4589A>T (p.Glu1530Val)
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.4594del (p.Val1532fs)
NM_000051.4(ATM):c.4596G>A (p.Val1532=) rs2135802501
NM_000051.4(ATM):c.4596G>T (p.Val1532=)
NM_000051.4(ATM):c.4599G>A (p.Glu1533=) rs1274454004
NM_000051.4(ATM):c.4599G>C (p.Glu1533Asp)
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+13C>T rs1565461868
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+23A>G
NM_000051.4(ATM):c.4611+28G>A
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.4611G>C (p.Gln1537His)
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.4612-122G>A rs4988009
NM_000051.4(ATM):c.4612-122G>T rs4988009
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.4612-3_4616del rs773012957
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.4612_4621del (p.Val1538fs)
NM_000051.4(ATM):c.4616T>C (p.Leu1539Ser) rs1591676806
NM_000051.4(ATM):c.4617G>A (p.Leu1539=) rs1179885415
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.4622T>A (p.Leu1541Ter)
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.4627A>G (p.Lys1543Glu)
NM_000051.4(ATM):c.462A>G (p.Lys154=) rs876659923
NM_000051.4(ATM):c.462del (p.Lys154fs)
NM_000051.4(ATM):c.4631A>T (p.Tyr1544Phe)
NM_000051.4(ATM):c.4632C>A (p.Tyr1544Ter)
NM_000051.4(ATM):c.4632C>G (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.463T>C (p.Tyr155His)
NM_000051.4(ATM):c.463T>G (p.Tyr155Asp) rs1555059450
NM_000051.4(ATM):c.4641A>C (p.Ile1547=)
NM_000051.4(ATM):c.4641A>G (p.Ile1547Met)
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.4648A>G (p.Lys1550Glu) rs1555100449
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.4658A>G (p.Glu1553Gly) rs587778075
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.4660_4661insTTTTTATT (p.Asn1554fs)
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4662C>T (p.Asn1554=) rs776761757
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.4674_4695del (p.Ile1559fs) rs2135811484
NM_000051.4(ATM):c.4675A>G (p.Ile1559Val)
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.467G>C (p.Trp156Ser) 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.4680del (p.Lys1560fs)
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.468G>C (p.Trp156Cys)
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>A (p.Pro1564His) rs1064793971
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu) rs1064793971
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
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.4700A>G (p.Asp1567Gly) rs1565463108
NM_000051.4(ATM):c.4700A>T (p.Asp1567Val)
NM_000051.4(ATM):c.4701C>T (p.Asp1567=) rs1591677421
NM_000051.4(ATM):c.4703A>T (p.His1568Leu) rs368830730
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>A (p.Val1569Asp) rs1555100549
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.4707dup (p.Val1570fs)
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
NM_000051.4(ATM):c.470G>T (p.Cys157Phe) rs1591475486
NM_000051.4(ATM):c.4713T>C (p.Phe1571=) rs750027746
NM_000051.4(ATM):c.4719T>C (p.Asp1573=)
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
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.4723_4725delinsAGA (p.Arg1575=) rs2082921459
NM_000051.4(ATM):c.4724G>T (p.Arg1575Leu)
NM_000051.4(ATM):c.4725T>C (p.Arg1575=) rs1555100576
NM_000051.4(ATM):c.4725dup (p.Ile1576fs) rs1565463203
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val) rs2082921955
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr) rs2082922133
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>G (p.Thr1577Ser)
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.4734_4736delinsCC (p.Gln1578fs)
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.4742T>G (p.Ile1581Ser)
NM_000051.4(ATM):c.4743C>A (p.Ile1581=)
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.4754G>A (p.Arg1585Lys)
NM_000051.4(ATM):c.4755A>G (p.Arg1585=)
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg) rs1565463314
NM_000051.4(ATM):c.4757G>A (p.Gly1586Glu)
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.4768C>G (p.Leu1590Val) rs35962982
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>A (p.Leu1591Ter)
NM_000051.4(ATM):c.4772T>C (p.Leu1591Ser) rs1565463381
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp) rs1565463381
NM_000051.4(ATM):c.4773G>T (p.Leu1591Phe)
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
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>G rs767641642
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>C
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+20C>A rs1565463486
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+43_4776+44del
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.4776G>T (p.Glu1592Asp)
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
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.4777-1_4777insTTACATTTACATTTTAGTTAATTTTAG rs1555101604
NM_000051.4(ATM):c.4777-2A>C
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.4777-5T>G
NM_000051.4(ATM):c.4777-65del rs1035735880
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.4777G>T (p.Glu1593Ter)
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.4782del (p.Asn1595fs)
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.4786C>G (p.His1596Asp) rs1555101635
NM_000051.4(ATM):c.4787A>G (p.His1596Arg) rs2135833806
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.4796C>G (p.Ser1599Ter) rs1591684337
NM_000051.4(ATM):c.4796C>T (p.Ser1599Leu)
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.4800A>T (p.Val1600=)
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.4801dup (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.4805T>G (p.Val1602Gly)
NM_000051.4(ATM):c.4806T>C (p.Val1602=)
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.4808A>G (p.Tyr1603Cys)
NM_000051.4(ATM):c.4809T>C (p.Tyr1603=)
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.4813G>T (p.Ala1605Ser)
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.4815A>G (p.Ala1605=)
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe) rs746103632
NM_000051.4(ATM):c.4817T>G (p.Leu1606Arg) rs1555101727
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.4820del (p.Pro1607fs) rs2135834949
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.4826C>T (p.Thr1609Ile)
NM_000051.4(ATM):c.4827A>T (p.Thr1609=)
NM_000051.4(ATM):c.4828A>C (p.Arg1610=)
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.4830A>G (p.Arg1610=)
NM_000051.4(ATM):c.4830A>T (p.Arg1610Ser)
NM_000051.4(ATM):c.4831C>G (p.Leu1611Val) rs1026156596
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.4834G>C (p.Glu1612Gln)
NM_000051.4(ATM):c.4835A>C (p.Glu1612Ala) rs1555101776
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>C (p.Lys1615Asn) rs888498126
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.4851T>C (p.Leu1617=)
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>G (p.Gln1620Glu)
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.4862T>G (p.Leu1621Arg)
NM_000051.4(ATM):c.4863G>A (p.Leu1621=)
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.4867C>T (p.Leu1623=)
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.4868T>G (p.Leu1623Arg)
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.4871A>C (p.His1624Pro)
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.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs)
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.4881G>A (p.Gln1627=)
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.4883T>C (p.Met1628Thr)
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.4885dup (p.Val1629fs) rs1555101915
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
NM_000051.4(ATM):c.4887G>T (p.Val1629=)
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4888dup (p.Asp1630fs)
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4889_4901dup (p.Ser1635fs) rs1565466585
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.4891A>G (p.Ile1631Val)
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.4897A>T (p.Arg1633Ter)
NM_000051.4(ATM):c.4898G>C (p.Arg1633Thr)
NM_000051.4(ATM):c.4898G>T (p.Arg1633Ile) rs1555101943
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.4900_4904del (p.Ala1634fs) rs1591685276
NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)
NM_000051.4(ATM):c.4902T>C (p.Ala1634=) rs2135838120
NM_000051.4(ATM):c.4902T>G (p.Ala1634=)
NM_000051.4(ATM):c.4903T>G (p.Ser1635Ala) rs535266558
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.4905_4909+16del
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+8T>G
NM_000051.4(ATM):c.4909+9T>G rs1555101970
NM_000051.4(ATM):c.4909G>A (p.Asp1637Asn) rs753870656
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.490_496del (p.Trp164fs)
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.4910-5del rs2083173551
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.4910-891G>A
NM_000051.4(ATM):c.4910-8A>G rs1555103144
NM_000051.4(ATM):c.4910-942G>T
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>G (p.Pro1639Ala) 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.4916del (p.Pro1639fs) rs2083174891
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4917G>C (p.Pro1639=)
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.4921G>A (p.Asp1641Asn)
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly)
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg) rs2135861446
NM_000051.4(ATM):c.4924G>C (p.Gly1642Arg)
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.4928T>A (p.Ile1643Asn) rs1555103201
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.4935G>C (p.Val1645=)
NM_000051.4(ATM):c.4936A>C (p.Lys1646Gln) rs2135861949
NM_000051.4(ATM):c.4938A>C (p.Lys1646Asn)
NM_000051.4(ATM):c.4938A>G (p.Lys1646=) rs1171877755
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.4941A>T (p.Leu1647=)
NM_000051.4(ATM):c.4941_4943del (p.Val1649del) rs1591692664
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.4945G>A (p.Val1649Ile) rs1565469893
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp) rs2135862254
NM_000051.4(ATM):c.4947C>A (p.Val1649=)
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.495A>C (p.Leu165Phe) rs1555059544
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>A rs751245102
NM_000051.4(ATM):c.496+20G>T rs751245102
NM_000051.4(ATM):c.496+286A>G
NM_000051.4(ATM):c.496+2T>G rs2079249834
NM_000051.4(ATM):c.496+334A>G
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.4960T>C (p.Leu1654=)
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>A (p.Ser1655=)
NM_000051.4(ATM):c.4965C>T (p.Ser1655=) rs1555103252
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
NM_000051.4(ATM):c.4966A>C (p.Lys1656Gln) rs1565470010
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.4968G>A (p.Lys1656=)
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.497-1142dup
NM_000051.4(ATM):c.497-15T>A
NM_000051.4(ATM):c.497-18T>C rs1555066191
NM_000051.4(ATM):c.497-19A>G rs894871243
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-20A>T rs2079692832
NM_000051.4(ATM):c.497-2421_497-2418del rs370425572
NM_000051.4(ATM):c.497-2661A>G rs1591491477
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.497-2_499del rs2079694684
NM_000051.4(ATM):c.497-3528_663-121del
NM_000051.4(ATM):c.497-3A>C
NM_000051.4(ATM):c.497-3A>G rs1046559213
NM_000051.4(ATM):c.497-3A>T rs1046559213
NM_000051.4(ATM):c.497-3_498del rs1205233530
NM_000051.4(ATM):c.497-46T>C
NM_000051.4(ATM):c.497-4T>G rs876659621
NM_000051.4(ATM):c.497-4del rs768748099
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.497-5_497-4del rs768748099
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.497-7_497-4del
NM_000051.4(ATM):c.497-9T>G rs2079693632
NM_000051.4(ATM):c.4970T>A (p.Met1657Lys) rs1555103260
NM_000051.4(ATM):c.4971G>C (p.Met1657Ile)
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser) rs372679141
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
NM_000051.4(ATM):c.4974A>G (p.Ala1658=)
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.4(ATM):c.4976T>G (p.Ile1659Arg) rs1555103271
NM_000051.4(ATM):c.4977A>C (p.Ile1659=)
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.4982A>G (p.His1661Arg) rs1555103285
NM_000051.4(ATM):c.4983C>G (p.His1661Gln)
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.4986T>C (p.Thr1662=)
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>A (p.Gly1663=)
NM_000051.4(ATM):c.4989T>C (p.Gly1663=)
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.4994AAG[1] (p.Glu1666del) rs876660918
NM_000051.4(ATM):c.4994_4999del (p.Lys1665_Val1667delinsIle)
NM_000051.4(ATM):c.4996G>A (p.Glu1666Lys)
NM_000051.4(ATM):c.4998A>G (p.Glu1666=)
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.49C>G (p.His17Asp) rs876658161
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.5001T>G (p.Val1667=)
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile) rs747317946
NM_000051.4(ATM):c.5002C>G (p.Leu1668Val) rs747317946
NM_000051.4(ATM):c.5003T>C (p.Leu1668Pro)
NM_000051.4(ATM):c.5003T>G (p.Leu1668Arg)
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+10A>T 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.5005+21G>A
NM_000051.4(ATM):c.5005+2T>G rs2083182794
NM_000051.4(ATM):c.5005+302A>T rs869312480
NM_000051.4(ATM):c.5005+42C>G
NM_000051.4(ATM):c.5005+86T>A
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) rs1591693095
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.5006-14del rs879254277
NM_000051.4(ATM):c.5006-15A>G rs2083314552
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.5006-3T>A rs761297488
NM_000051.4(ATM):c.5006-4G>A rs1591701752
NM_000051.4(ATM):c.5006-4G>T
NM_000051.4(ATM):c.5006-50T>C
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.5006-68T>G rs3092906
NM_000051.4(ATM):c.5006-6A>G rs1392301961
NM_000051.4(ATM):c.5006-8A>G rs1057520447
NM_000051.4(ATM):c.5006-8A>T rs1057520447
NM_000051.4(ATM):c.5006-9T>C rs1565473375
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>A (p.Ala1670=)
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>C (p.Val1671Leu) 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.5013T>A (p.Val1671=)
NM_000051.4(ATM):c.5013T>G (p.Val1671=)
NM_000051.4(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.4(ATM):c.5016A>C (p.Gly1672=)
NM_000051.4(ATM):c.5016A>G (p.Gly1672=)
NM_000051.4(ATM):c.5016A>T (p.Gly1672=)
NM_000051.4(ATM):c.5017A>G (p.Ser1673Gly) rs2135888197
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn) rs878853515
NM_000051.4(ATM):c.5018GCT[1] (p.Cys1674del) rs1555104505
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.5024T>G (p.Leu1675Trp)
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.503T>A (p.Phe168Tyr) rs1591499616
NM_000051.4(ATM):c.503del (p.Phe168fs) rs2135221867
NM_000051.4(ATM):c.5040T>G (p.Pro1680=)
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>C (p.Ile1681=)
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>C (p.Asp1682His) 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.504del (p.Ser169fs)
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.5052T>G (p.Ser1684=)
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.5058A>C (p.Ile1686=)
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr) rs1555104597
NM_000051.4(ATM):c.5059G>T (p.Ala1687Ser) 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.5061T>A (p.Ala1687=) rs1555104600
NM_000051.4(ATM):c.5061T>G (p.Ala1687=)
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5063T>A (p.Ile1688Lys)
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.5064A>G (p.Ile1688Met)
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.5070T>C (p.His1690=) rs1555104631
NM_000051.4(ATM):c.5070del (p.His1690fs) rs2083325659
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly) rs1800059
NM_000051.4(ATM):c.5072G>C (p.Ser1691Thr) rs1064795911
NM_000051.4(ATM):c.5073T>G (p.Ser1691Arg)
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.5076A>G (p.Lys1692=) rs767841041
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.5082A>T (p.Ala1694=)
NM_000051.4(ATM):c.5084C>A (p.Ser1695Tyr)
NM_000051.4(ATM):c.5085T>G (p.Ser1695=) rs2135890366
NM_000051.4(ATM):c.5086T>G (p.Tyr1696Asp) rs1591702471
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.5093dup (p.Ala1699fs)
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
NM_000051.4(ATM):c.5096C>G (p.Ala1699Gly)
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.5098del (p.Lys1701fs) rs1555104689
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.5106A>T (p.Leu1702Phe)
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.510G>T (p.Val170=)
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.5111A>T (p.Glu1704Val)
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.5125C>T (p.Gln1709Ter)
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg) rs587780627
NM_000051.4(ATM):c.5127G>A (p.Gln1709=) rs1057521839
NM_000051.4(ATM):c.5127G>C (p.Gln1709His) rs1057521839
NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)
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.5130G>A (p.Trp1710Ter)
NM_000051.4(ATM):c.5130G>T (p.Trp1710Cys) rs780816003
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.5132_5139delinsAACCT (p.Thr1711_Ile1713delinsLysPro)
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.5147C>T (p.Thr1716Ile)
NM_000051.4(ATM):c.5148dup (p.Tyr1717fs)
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.5151C>T (p.Tyr1717=) rs1057523468
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)
NM_000051.4(ATM):c.5152C>T (p.Leu1718=)
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.5156A>T (p.Asn1719Ile)
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.5162dup (p.Leu1722fs) rs2083337165
NM_000051.4(ATM):c.5163A>G (p.Thr1721=) rs1565474295
NM_000051.4(ATM):c.5163_5164del (p.Leu1722fs) rs2083336878
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.5169AGA[1] (p.Glu1724del)
NM_000051.4(ATM):c.516C>T (p.Phe172=) rs1591499730
NM_000051.4(ATM):c.516_517delinsG (p.Phe172fs)
NM_000051.4(ATM):c.5170G>T (p.Glu1724Ter)
NM_000051.4(ATM):c.5171A>C (p.Glu1724Ala)
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+2T>C
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+68A>G rs558610972
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.5178-18T>G rs1057522381
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-1G>T rs1555105579
NM_000051.4(ATM):c.5178-20A>G rs1565476588
NM_000051.4(ATM):c.5178-2A>C
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5178-3C>G rs876658558
NM_000051.4(ATM):c.5178-3C>T
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.5178-5T>C rs1555105570
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.5178T>C (p.Cys1726=)
NM_000051.4(ATM):c.5178del (p.Cys1726fs)
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.5180T>A (p.Val1727Asp) rs2083435874
NM_000051.4(ATM):c.5181C>T (p.Val1727=)
NM_000051.4(ATM):c.5184A>T (p.Lys1728Asn)
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5185G>A (p.Val1729Ile)
NM_000051.4(ATM):c.5185del (p.Val1729fs) rs1555105610
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.5188C>G (p.Arg1730Gly) 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.5190A>T (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.5192C>T (p.Ser1731Leu)
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.5197G>C (p.Ala1733Pro)
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)
NM_000051.4(ATM):c.519G>A (p.Arg173=)
NM_000051.4(ATM):c.519G>T (p.Arg173Ser) rs587781391
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.5202T>A (p.Val1734=)
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
NM_000051.4(ATM):c.5204C>G (p.Thr1735Ser) rs1555105650
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.5205C>T (p.Thr1735=)
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
NM_000051.4(ATM):c.5206T>G (p.Cys1736Gly)
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr) rs1172318140
NM_000051.4(ATM):c.5208T>C (p.Cys1736=)
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.4(ATM):c.520C>A (p.Leu174Ile) rs1565369274
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.5210_5212delinsGT (p.Leu1737fs) rs1591708568
NM_000051.4(ATM):c.5210del (p.Cys1736_Leu1737insTer)
NM_000051.4(ATM):c.5211_5222del (p.Lys1738_Leu1741del) rs1591708546
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu) rs1064793957
NM_000051.4(ATM):c.5212A>T (p.Lys1738Ter) rs1064793957
NM_000051.4(ATM):c.5213A>G (p.Lys1738Arg)
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)
NM_000051.4(ATM):c.5216_5218delinsCCT (p.Asn1739_Ile1740delinsThrPhe)
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.5218A>T (p.Ile1740Phe) 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.5226C>T (p.Ala1742=) rs750881004
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.5228C>A (p.Thr1743Lys) rs587779844
NM_000051.4(ATM):c.5228C>G (p.Thr1743Arg) rs587779844
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.5231dup (p.Thr1745fs)
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.523T>G (p.Tyr175Asp) 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>A (p.Phe1749Tyr) rs1591708790
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser) rs1591708790
NM_000051.4(ATM):c.5246T>G (p.Phe1749Cys) 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.5256T>G (p.Ile1752Met)
NM_000051.4(ATM):c.5257T>C (p.Tyr1753His)
NM_000051.4(ATM):c.5257T>G (p.Tyr1753Asp)
NM_000051.4(ATM):c.5257del (p.Tyr1753fs)
NM_000051.4(ATM):c.5258A>C (p.Tyr1753Ser) rs777481236
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5259T>C (p.Tyr1753=)
NM_000051.4(ATM):c.525T>A (p.Tyr175Ter)
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter) rs1363186839
NM_000051.4(ATM):c.5260A>G (p.Lys1754Glu)
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.5265_5274del (p.Met1755fs)
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.5269A>G (p.Thr1757Ala) 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.5272G>C (p.Asp1758His) rs1591708951
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.527T>C (p.Leu176Pro) 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.5283G>T (p.Leu1761=)
NM_000051.4(ATM):c.5284G>A (p.Ala1762Thr) rs2083444037
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>C (p.Tyr1763Ser) rs1555105780
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.5290C>T (p.Leu1764=)
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.5294A>T (p.Gln1765Leu)
NM_000051.4(ATM):c.5296C>T (p.Pro1766Ser)
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
NM_000051.4(ATM):c.5298T>G (p.Pro1766=)
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.5301del (p.Phe1767fs)
NM_000051.4(ATM):c.5303G>A (p.Arg1768Lys) rs2083445472
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.5309C>T (p.Ser1770Leu)
NM_000051.4(ATM):c.530A>G (p.Lys177Arg) rs2135222838
NM_000051.4(ATM):c.5310A>C (p.Ser1770=)
NM_000051.4(ATM):c.5310A>T (p.Ser1770=)
NM_000051.4(ATM):c.5311A>G (p.Arg1771Gly) rs1591709145
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.4(ATM):c.5312G>C (p.Arg1771Thr) rs1416930012
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
NM_000051.4(ATM):c.5313A>G (p.Arg1771=) rs1591709164
NM_000051.4(ATM):c.5314A>G (p.Lys1772Glu) rs1591709181
NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)
NM_000051.4(ATM):c.5316A>G (p.Lys1772=)
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+1_5319+10del
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>G rs1565477462
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+6_5319+7insGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAATAAAATAAAAAAAAAGGTCTCT rs2135915800
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.5319_5319+8delinsTGTTTG rs1064792939
NM_000051.4(ATM):c.531dup (p.Pro178fs)
NM_000051.4(ATM):c.5320-10T>G
NM_000051.4(ATM):c.5320-11T>C
NM_000051.4(ATM):c.5320-12C>G rs2083494676
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.5320-18T>G rs2083494233
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.5320-48A>G
NM_000051.4(ATM):c.5320-4C>A
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.5320-8C>T rs2083495309
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer) rs2083496327
NM_000051.4(ATM):c.5325A>C (p.Leu1775Phe) rs2083496679
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.5329_5331del (p.Val1777del) rs2135927016
NM_000051.4(ATM):c.5329_5349dup (p.Val1777_Glu1783dup) rs587779847
NM_000051.4(ATM):c.532C>A (p.Pro178Thr)
NM_000051.4(ATM):c.532C>T (p.Pro178Ser) rs786201807
NM_000051.4(ATM):c.5330T>C (p.Val1777Ala) rs1555106328
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.5335del (p.Arg1779fs)
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)
NM_000051.4(ATM):c.5336G>T (p.Arg1779Ile)
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.5340del (p.Phe1780fs)
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.5346A>G (p.Lys1782=) 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.5347G>C (p.Glu1783Gln)
NM_000051.4(ATM):c.5347_5348dup (p.Asn1784fs)
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5347_5351del (p.Glu1783fs)
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_5358del (p.Pro1785_Phe1786insTer)
NM_000051.4(ATM):c.5357_5358dup (p.Glu1787fs)
NM_000051.4(ATM):c.5358T>A (p.Phe1786Leu) rs876659725
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.5365del (p.Leu1789fs)
NM_000051.4(ATM):c.5368G>A (p.Asp1790Asn) rs876658890
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.5370T>A (p.Asp1790Glu) rs1555106395
NM_000051.4(ATM):c.5371G>A (p.Asp1791Asn)
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly) rs367987632
NM_000051.4(ATM):c.5373T>C (p.Asp1791=) rs2135928197
NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs)
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.5379T>C (p.Asn1793=)
NM_000051.4(ATM):c.537A>C (p.Ser179=) rs1555066338
NM_000051.4(ATM):c.537A>T (p.Ser179=) rs1555066338
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.5398G>C (p.Glu1800Gln)
NM_000051.4(ATM):c.5399A>G (p.Glu1800Gly) rs2083502112
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.5400A>G (p.Glu1800=)
NM_000051.4(ATM):c.5401A>G (p.Asn1801Asp) rs2083502328
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr) rs2083502328
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr) rs1555106445
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.4(ATM):c.5402del (p.Asn1801fs) rs1555106438
NM_000051.4(ATM):c.5402dup (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.5410A>C (p.Ile1804Leu)
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5416A>C (p.Ile1806Leu) rs1565479163
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5417_5422del (p.Ile1806_Lys1807del)
NM_000051.4(ATM):c.5419A>C (p.Lys1807Gln) rs1591712583
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.5423C>T (p.Thr1808Ile)
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.542A>G (p.Asp181Gly)
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.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT (p.Cys1811delinsLeuSerLysSerTer)
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.5434G>C (p.Ala1812Pro)
NM_000051.4(ATM):c.5435_5437del (p.Ala1812_Phe1813delinsVal)
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.5440T>C (p.Leu1814=)
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
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.5443G>T (p.Asp1815Tyr)
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs) rs1591712726
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.5450dup (p.Gly1818fs)
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser) rs774784546
NM_000051.4(ATM):c.5453G>A (p.Gly1818Asp)
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu) rs1555106531
NM_000051.4(ATM):c.5454C>A (p.Gly1818=)
NM_000051.4(ATM):c.5455A>G (p.Thr1819Ala)
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.5458A>C (p.Lys1820Gln)
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.4(ATM):c.545T>G (p.Val182Gly)
NM_000051.4(ATM):c.5460A>G (p.Lys1820=) rs1591712836
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
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.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer)
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.5466A>C (p.Glu1822Asp)
NM_000051.4(ATM):c.5466A>G (p.Glu1822=)
NM_000051.4(ATM):c.5467A>G (p.Ile1823Val)
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe) rs2083508049
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
NM_000051.4(ATM):c.546T>C (p.Val182=)
NM_000051.4(ATM):c.546T>G (p.Val182=) rs2135223336
NM_000051.4(ATM):c.546dup (p.His183fs)
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.5475dup (p.Leu1826fs)
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.5476TTA[1] (p.Leu1827del) rs1591712957
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.5484G>T (p.Lys1828Asn)
NM_000051.4(ATM):c.5488A>C (p.Met1830Leu) rs587781622
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.5493T>G (p.Cys1831Trp)
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys) rs1591713057
NM_000051.4(ATM):c.5496+11T>G rs751491395
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+1G>T 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+5G>T rs786202708
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.5497-3T>G rs1064795486
NM_000051.4(ATM):c.5497-4C>G rs1002998981
NM_000051.4(ATM):c.5497-4dup rs2083589744
NM_000051.4(ATM):c.5497-5T>G
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>C (p.His183=) 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.5501A>G (p.Lys1834Arg)
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
NM_000051.4(ATM):c.5503del (p.Thr1835fs) rs1591717467
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser) rs2135942516
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
NM_000051.4(ATM):c.5505del (p.Asp1836fs)
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.5508_5509delinsG (p.Asp1836fs)
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>C (p.Arg184=)
NM_000051.4(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.4(ATM):c.550A>T (p.Arg184Ter)
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.5519C>G (p.Thr1840Ser) rs2083591643
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.5521G>C (p.Val1841Leu)
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.5524dup (p.Leu1842fs)
NM_000051.4(ATM):c.5525T>C (p.Leu1842Pro)
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.5528C>T (p.Pro1843Leu)
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.5531A>G (p.Tyr1844Cys) 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.5533T>A (p.Leu1845Met) rs1555107311
NM_000051.4(ATM):c.5533T>G (p.Leu1845Val)
NM_000051.4(ATM):c.5534T>C (p.Leu1845Ser) rs1555107319
NM_000051.4(ATM):c.5534del (p.Tyr1844_Leu1845insTer) rs1555107315
NM_000051.4(ATM):c.5535G>A (p.Leu1845=)
NM_000051.4(ATM):c.5535G>C (p.Leu1845Phe) rs2135943227
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe) rs587779849
NM_000051.4(ATM):c.5537T>C (p.Ile1846Thr)
NM_000051.4(ATM):c.5538dup (p.His1847fs) rs2135943275
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.5546T>C (p.Ile1849Thr) rs2135943454
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.5553C>A (p.Leu1851=)
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.5554del (p.Gln1852fs)
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.5557_5558delinsAT (p.Asp1853Ile) rs1555107380
NM_000051.4(ATM):c.5558A>G (p.Asp1853Gly)
NM_000051.4(ATM):c.5559T>A (p.Asp1853Glu)
NM_000051.4(ATM):c.5559T>C (p.Asp1853=) rs1555107393
NM_000051.4(ATM):c.555T>C (p.Val185=)
NM_000051.4(ATM):c.5560A>G (p.Thr1854Ala)
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
NM_000051.4(ATM):c.5561_5568dup (p.Ser1857fs)
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
NM_000051.4(ATM):c.5562A>T (p.Thr1854=)
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.556T>G (p.Leu186Val) rs2079700064
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter) rs2135944016
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>C (p.Arg1859=) rs1565481925
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.557dup (p.Leu186fs) rs1591500005
NM_000051.4(ATM):c.5580T>A (p.Asn1860Lys) rs2083598099
NM_000051.4(ATM):c.5580T>C (p.Asn1860=) rs2083598099
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met) rs1314298685
NM_000051.4(ATM):c.5581C>T (p.Leu1861=)
NM_000051.4(ATM):c.5582T>C (p.Leu1861Pro) rs1555107411
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.5588C>A (p.Ser1863Tyr)
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>C (p.Thr1864=)
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.5596G>T (p.Val1866Phe) rs1468995507
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly) rs2083600177
NM_000051.4(ATM):c.5598T>G (p.Val1866=)
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.5599del (p.Gln1867fs)
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>A (p.Phe1869Ile)
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.560T>C (p.Val187Ala) rs1591500044
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>C (p.Cys1873Ser)
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs) rs1064793031
NM_000051.4(ATM):c.5620C>T (p.Leu1874Phe)
NM_000051.4(ATM):c.5621T>C (p.Leu1874Pro)
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.5630T>G (p.Phe1877Cys) rs202028401
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.5634G>T (p.Ser1878=) rs767070325
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.564T>G (p.Ala188=)
NM_000051.4(ATM):c.564del (p.Arg189fs) rs876658754
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.5653A>G (p.Thr1885Ala) rs587779850
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>A (p.Ala1887Glu)
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.5663A>T (p.Asn1888Ile)
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met) rs746106249
NM_000051.4(ATM):c.5665T>G (p.Leu1889Val)
NM_000051.4(ATM):c.5666T>G (p.Leu1889Trp) rs1555107606
NM_000051.4(ATM):c.566G>A (p.Arg189Lys) rs79075295
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
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>A
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.5675-11_5675-10del rs2083812557
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.5675-27C>A
NM_000051.4(ATM):c.5675-2A>G rs2083814855
NM_000051.4(ATM):c.5675-2dup rs2135975648
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5675-48T>C
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-5G>A rs1591731701
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.5677T>A (p.Ser1893Thr) rs730881376
NM_000051.4(ATM):c.5677T>C (p.Ser1893Pro)
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.5679_5691del (p.Glu1894fs)
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.5680G>C (p.Glu1894Gln)
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.5687T>G (p.Phe1896Cys)
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.5690dup (p.Arg1898fs)
NM_000051.4(ATM):c.5691C>T (p.Phe1897=) rs1555109057
NM_000051.4(ATM):c.5692C>A (p.Arg1898=)
NM_000051.4(ATM):c.5693G>T (p.Arg1898Leu) rs370680798
NM_000051.4(ATM):c.5694A>T (p.Arg1898=)
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.5696dup (p.Cys1899fs) rs1565486028
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>A (p.Cys1900Ser) rs2083817433
NM_000051.4(ATM):c.5698T>C (p.Cys1900Arg) rs2083817433
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.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.56G>A (p.Arg19Lys) rs1064793029
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>C (p.Lys1903Thr)
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.5732C>G (p.Ala1911Gly)
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs) rs1565486174
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.5737G>A (p.Val1913Met) rs876659487
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.5739G>A (p.Val1913=)
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.5756_5759del (p.Gln1919fs)
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.5758_5759del (p.Lys1920fs) rs1555109177
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.5760G>A (p.Lys1920=)
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5761A>T (p.Arg1921Ter)
NM_000051.4(ATM):c.5762+10T>C rs1276744102
NM_000051.4(ATM):c.5762+10T>G 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+26C>T rs78330259
NM_000051.4(ATM):c.5762+3A>T
NM_000051.4(ATM):c.5762+3_5762+4del
NM_000051.4(ATM):c.5762+5T>G
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.5762G>A (p.Arg1921Lys)
NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)
NM_000051.4(ATM):c.5762_5763del (p.Arg1921fs) rs1565486341
NM_000051.4(ATM):c.576T>G (p.His192Gln) rs2079702502
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.577G>C (p.Ala193Pro) rs876659832
NM_000051.4(ATM):c.577G>T (p.Ala193Ser)
NM_000051.4(ATM):c.578C>G (p.Ala193Gly) rs1064793928
NM_000051.4(ATM):c.578C>T (p.Ala193Val) rs1064793928
NM_000051.4(ATM):c.57A>G (p.Arg19=)
NM_000051.4(ATM):c.580G>C (p.Val194Leu) rs1591500206
NM_000051.4(ATM):c.580G>T (p.Val194Phe) rs1591500206
NM_000051.4(ATM):c.581T>C (p.Val194Ala) rs2135224694
NM_000051.4(ATM):c.583del (p.Thr195fs) rs1591500220
NM_000051.4(ATM):c.584C>A (p.Thr195Asn)
NM_000051.4(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.4(ATM):c.585C>G (p.Thr195=) rs2135224869
NM_000051.4(ATM):c.585C>T (p.Thr195=)
NM_000051.4(ATM):c.586A>C (p.Lys196Gln) rs2079703283
NM_000051.4(ATM):c.587A>G (p.Lys196Arg)
NM_000051.4(ATM):c.587_602del (p.Lys196fs) rs2135224893
NM_000051.4(ATM):c.588A>G (p.Lys196=) rs2135224945
NM_000051.4(ATM):c.588del (p.Gly197fs) rs1057516683
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.590G>T (p.Gly197Val) rs753806542
NM_000051.4(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000051.4(ATM):c.592T>G (p.Cys198Gly)
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.595T>C (p.Cys199Arg) rs1591500295
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr) rs879254127
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.599C>G (p.Ser200Cys) rs1060501562
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.5G>C (p.Ser2Thr) rs730881360
NM_000051.4(ATM):c.600T>G (p.Ser200=) rs2135225298
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.603G>C (p.Gln201His)
NM_000051.4(ATM):c.605C>T (p.Thr202Ile) rs1555066438
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.606_618delinsAG (p.Asp203fs) rs2079704928
NM_000051.4(ATM):c.607G>A (p.Asp203Asn) rs1591500372
NM_000051.4(ATM):c.607del (p.Asp203fs) rs2135225618
NM_000051.4(ATM):c.60T>C (p.Ala20=)
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.611G>T (p.Gly204Val) rs1555066451
NM_000051.4(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.4(ATM):c.614T>C (p.Leu205Ser)
NM_000051.4(ATM):c.614T>G (p.Leu205Ter) rs2079705608
NM_000051.4(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.4(ATM):c.61A>C (p.Thr21Pro)
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.4(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.4(ATM):c.621C>T (p.Ser207=)
NM_000051.4(ATM):c.621del (p.Lys208fs) rs2079706212
NM_000051.4(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.622A>T (p.Lys208Ter)
NM_000051.4(ATM):c.623A>G (p.Lys208Arg) rs2135226282
NM_000051.4(ATM):c.627T>C (p.Phe209=)
NM_000051.4(ATM):c.628T>C (p.Leu210=) rs1555066477
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.630G>A (p.Leu210=) rs1565369739
NM_000051.4(ATM):c.630G>T (p.Leu210Phe)
NM_000051.4(ATM):c.631G>A (p.Asp211Asn) rs1555066481
NM_000051.4(ATM):c.632A>T (p.Asp211Val) rs1387925127
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.634T>C (p.Phe212Leu) rs876659912
NM_000051.4(ATM):c.635T>C (p.Phe212Ser) rs1591500544
NM_000051.4(ATM):c.635_636insG (p.Phe212fs)
NM_000051.4(ATM):c.636T>C (p.Phe212=) rs1555066499
NM_000051.4(ATM):c.637T>C (p.Phe213Leu) rs2079707663
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.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.642C>T (p.Ser214=) rs1555066521
NM_000051.4(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.4(ATM):c.643A>G (p.Lys215Glu) rs2079708238
NM_000051.4(ATM):c.644A>C (p.Lys215Thr) rs755074633
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.646G>A (p.Ala216Thr)
NM_000051.4(ATM):c.646G>C (p.Ala216Pro) rs2235002
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.4(ATM):c.647C>T (p.Ala216Val) rs2135227079
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.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.650_651dup (p.Gln218fs) rs2079709372
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
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.654G>C (p.Gln218His) rs1555066555
NM_000051.4(ATM):c.654G>T (p.Gln218His) rs1555066555
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)
NM_000051.4(ATM):c.658G>A (p.Ala220Thr) rs2135227395
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
NM_000051.4(ATM):c.659C>A (p.Ala220Glu)
NM_000051.4(ATM):c.660G>C (p.Ala220=)
NM_000051.4(ATM):c.660G>T (p.Ala220=) rs763669136
NM_000051.4(ATM):c.661A>G (p.Arg221Gly) rs2135227474
NM_000051.4(ATM):c.661A>T (p.Arg221Ter)
NM_000051.4(ATM):c.662+13C>G rs1565369998
NM_000051.4(ATM):c.662+13_662+14del rs1064795370
NM_000051.4(ATM):c.662+18T>C rs2079712629
NM_000051.4(ATM):c.662+18del rs1565370014
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.662+243T>G
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+48C>T
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.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.663-144del rs11298747
NM_000051.4(ATM):c.663-14T>G
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.663-194A>G
NM_000051.4(ATM):c.663-20G>A
NM_000051.4(ATM):c.663-20G>C rs1555066898
NM_000051.4(ATM):c.663-269C>G rs149955262
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.663-37C>T
NM_000051.4(ATM):c.663-3C>G rs2079752506
NM_000051.4(ATM):c.663-3C>T rs2079752506
NM_000051.4(ATM):c.663-3_663-2del
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.663A>G (p.Arg221=) rs1555066913
NM_000051.4(ATM):c.663A>T (p.Arg221Ser) rs1555066913
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.665A>C (p.Gln222Pro) rs1565370993
NM_000051.4(ATM):c.665A>G (p.Gln222Arg)
NM_000051.4(ATM):c.666A>G (p.Gln222=)
NM_000051.4(ATM):c.666del (p.Glu223fs) rs2135236778
NM_000051.4(ATM):c.668A>C (p.Glu223Ala)
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.66del (p.Glu22fs) rs2135006691
NM_000051.4(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.4(ATM):c.673A>C (p.Ser225Arg) rs2079753846
NM_000051.4(ATM):c.675C>A (p.Ser225Arg) rs1555066940
NM_000051.4(ATM):c.675C>G (p.Ser225Arg) rs1555066940
NM_000051.4(ATM):c.675C>T (p.Ser225=) rs1555066940
NM_000051.4(ATM):c.677C>G (p.Ser226Cys)
NM_000051.4(ATM):c.677C>T (p.Ser226Phe) rs2079754211
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.67C>A (p.Arg23=) rs746235533
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000051.4(ATM):c.680C>A (p.Ser227Ter)
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.681dup (p.Gly228fs) rs1591503359
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.684T>C (p.Gly228=) rs1591503368
NM_000051.4(ATM):c.684T>G (p.Gly228=)
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs) rs2135237416
NM_000051.4(ATM):c.686T>C (p.Leu229Pro) rs1591503381
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.687A>T (p.Leu229=)
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.691C>G (p.His231Asp) rs1460757633
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.693T>C (p.His231=) rs1555066993
NM_000051.4(ATM):c.694A>G (p.Ile232Val) rs767739747
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.695_699del (p.Ile232fs)
NM_000051.4(ATM):c.695del (p.Ile232fs)
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.697T>G (p.Leu233Val)
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.699AGC[1] (p.Ala235del) rs1591503522
NM_000051.4(ATM):c.6T>A (p.Ser2Arg) rs748158168
NM_000051.4(ATM):c.6T>G (p.Ser2Arg) rs748158168
NM_000051.4(ATM):c.700G>T (p.Ala234Ser)
NM_000051.4(ATM):c.701C>T (p.Ala234Val)
NM_000051.4(ATM):c.703G>A (p.Ala235Thr) rs76379269
NM_000051.4(ATM):c.703G>C (p.Ala235Pro) rs76379269
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
NM_000051.4(ATM):c.704del (p.Ala235fs) rs1591503565
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.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.707T>A (p.Leu236His) rs876659813
NM_000051.4(ATM):c.707T>C (p.Leu236Pro) rs876659813
NM_000051.4(ATM):c.707T>G (p.Leu236Arg) rs876659813
NM_000051.4(ATM):c.708T>C (p.Leu236=)
NM_000051.4(ATM):c.708del (p.Thr237fs) rs1555067034
NM_000051.4(ATM):c.709A>T (p.Thr237Ser) rs376529329
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.70A>G (p.Lys24Glu) rs1469464426
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.711T>C (p.Thr237=) rs1294159555
NM_000051.4(ATM):c.712A>T (p.Ile238Phe)
NM_000051.4(ATM):c.713T>A (p.Ile238Asn) rs149116878
NM_000051.4(ATM):c.716T>G (p.Phe239Cys)
NM_000051.4(ATM):c.716del (p.Phe239fs) rs2079758855
NM_000051.4(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.4(ATM):c.718C>G (p.Leu240Val)
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.71del (p.Lys24fs)
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+16A>C rs1565344289
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+22A>T
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+5_72+6delinsCTT rs1555053982
NM_000051.4(ATM):c.72+6A>G rs1057520800
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.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.724A>G (p.Thr242Ala) rs1555067068
NM_000051.4(ATM):c.724A>T (p.Thr242Ser) rs1555067068
NM_000051.4(ATM):c.725C>A (p.Thr242Asn) rs2135238871
NM_000051.4(ATM):c.726T>C (p.Thr242=) rs1555067070
NM_000051.4(ATM):c.728dup (p.Leu243fs) rs2135238938
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>A rs766284348
NM_000051.4(ATM):c.73-14C>T
NM_000051.4(ATM):c.73-18T>G
NM_000051.4(ATM):c.73-19A>G rs1555054028
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>C rs1565344387
NM_000051.4(ATM):c.73-4T>G rs1565344387
NM_000051.4(ATM):c.73-4dup rs2078815843
NM_000051.4(ATM):c.73-9T>A rs1591446620
NM_000051.4(ATM):c.73-9T>C rs1591446620
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.730G>T (p.Ala244Ser)
NM_000051.4(ATM):c.732T>A (p.Ala244=) rs2135239123
NM_000051.4(ATM):c.732T>C (p.Ala244=)
NM_000051.4(ATM):c.733G>A (p.Val245Ile) rs1555067081
NM_000051.4(ATM):c.735C>G (p.Val245=) rs3218674
NM_000051.4(ATM):c.736A>T (p.Asn246Tyr)
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.737_742del (p.Asn246_Phe247del) rs1555067088
NM_000051.4(ATM):c.738C>T (p.Asn246=)
NM_000051.4(ATM):c.739T>A (p.Phe247Ile) rs2135239339
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
NM_000051.4(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.4(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
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.744A>C (p.Arg248=) rs1591503905
NM_000051.4(ATM):c.745A>G (p.Ile249Val) rs1060501636
NM_000051.4(ATM):c.748C>A (p.Arg250=) rs772821016
NM_000051.4(ATM):c.748C>G (p.Arg250Gly) rs772821016
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
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.750A>C (p.Arg250=)
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.4(ATM):c.751G>A (p.Val251Met) rs1057519145
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.753del (p.Cys252fs) rs2135239839
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.757G>A (p.Glu253Lys) rs2135239944
NM_000051.4(ATM):c.757G>T (p.Glu253Ter)
NM_000051.4(ATM):c.758A>G (p.Glu253Gly) rs2079763142
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.75_78del rs1565344409
NM_000051.4(ATM):c.761T>C (p.Leu254Ser) rs776428526
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
NM_000051.4(ATM):c.763G>C (p.Gly255Arg) rs770911662
NM_000051.4(ATM):c.764G>A (p.Gly255Glu) rs2135240183
NM_000051.4(ATM):c.764_766del (p.Gly255del) rs766716803
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.766G>A (p.Asp256Asn) rs2079764061
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr) rs2079764061
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.768T>C (p.Asp256=)
NM_000051.4(ATM):c.769G>A (p.Glu257Lys)
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.771A>C (p.Glu257Asp)
NM_000051.4(ATM):c.771A>G (p.Glu257=) rs786201068
NM_000051.4(ATM):c.773T>A (p.Ile258Asn) rs730881337
NM_000051.4(ATM):c.773T>G (p.Ile258Ser) rs730881337
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)
NM_000051.4(ATM):c.776T>A (p.Leu259His) rs1565371619
NM_000051.4(ATM):c.776T>C (p.Leu259Pro)
NM_000051.4(ATM):c.777T>A (p.Leu259=)
NM_000051.4(ATM):c.777T>C (p.Leu259=) rs2135240556
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.778C>T (p.Pro260Ser)
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.780C>T (p.Pro260=) rs1591504144
NM_000051.4(ATM):c.781A>T (p.Thr261Ser) rs786203410
NM_000051.4(ATM):c.782C>G (p.Thr261Ser)
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.788T>A (p.Leu263His) rs2079765536
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
NM_000051.4(ATM):c.78A>G (p.Glu26=) rs786202953
NM_000051.4(ATM):c.790T>A (p.Tyr264Asn) rs1591504199
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.791A>G (p.Tyr264Cys) rs730881338
NM_000051.4(ATM):c.792T>C (p.Tyr264=)
NM_000051.4(ATM):c.793A>G (p.Ile265Val) rs587781973
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.798G>A (p.Trp266Ter) rs2079766417
NM_000051.4(ATM):c.798G>T (p.Trp266Cys) rs2079766417
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.800C>G (p.Thr267Ser) rs2135241349
NM_000051.4(ATM):c.800C>T (p.Thr267Ile)
NM_000051.4(ATM):c.801T>C (p.Thr267=) rs1555067173
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.805_808dup (p.Arg270delinsThrTer)
NM_000051.4(ATM):c.806A>G (p.His269Arg) rs1565371740
NM_000051.4(ATM):c.806A>T (p.His269Leu)
NM_000051.4(ATM):c.807T>G (p.His269Gln) rs2135241561
NM_000051.4(ATM):c.808A>G (p.Arg270Gly) rs2135241589
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.810G>C (p.Arg270Ser) rs1565371772
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.812T>C (p.Leu271Pro)
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
NM_000051.4(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
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.816_829dup (p.Glu277delinsValIleLeuTer)
NM_000051.4(ATM):c.81T>G (p.Val27=) rs2135010830
NM_000051.4(ATM):c.820T>G (p.Ser274Ala) rs2079767927
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.823T>C (p.Leu275=)
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.825A>T (p.Leu275Phe) rs2135242080
NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer) rs1591504396
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.828del (p.Glu277fs)
NM_000051.4(ATM):c.829del (p.Glu277fs)
NM_000051.4(ATM):c.830A>G (p.Glu277Gly) rs2079768905
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.834C>A (p.Val278=)
NM_000051.4(ATM):c.834C>G (p.Val278=) rs2079769316
NM_000051.4(ATM):c.835A>G (p.Ile279Val) rs1555067210
NM_000051.4(ATM):c.835A>T (p.Ile279Phe)
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
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.838A>G (p.Ile280Val) rs764048041
NM_000051.4(ATM):c.840T>G (p.Ile280Met) rs1591504482
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.843A>G (p.Glu281=) rs1057523419
NM_000051.4(ATM):c.844T>C (p.Leu282=) rs1565371944
NM_000051.4(ATM):c.845T>A (p.Leu282Ter)
NM_000051.4(ATM):c.845T>G (p.Leu282Ter) rs2135242595
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.847T>G (p.Phe283Val) rs1591504549
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.84G>T (p.Glu28Asp)
NM_000051.4(ATM):c.84_85del (p.Lys29fs) rs2078817543
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.852A>T (p.Gln284His) rs140367473
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.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.856C>A (p.Gln286Lys)
NM_000051.4(ATM):c.856C>T (p.Gln286Ter) rs2135242925
NM_000051.4(ATM):c.857A>C (p.Gln286Pro) rs1591504622
NM_000051.4(ATM):c.857A>G (p.Gln286Arg) rs1591504622
NM_000051.4(ATM):c.859A>G (p.Ile287Val)
NM_000051.4(ATM):c.862T>C (p.Tyr288His) rs1565372057
NM_000051.4(ATM):c.863A>G (p.Tyr288Cys)
NM_000051.4(ATM):c.864T>C (p.Tyr288=)
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer) rs1565372075
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.866T>A (p.Ile289Asn)
NM_000051.4(ATM):c.866T>C (p.Ile289Thr) rs35261362
NM_000051.4(ATM):c.867C>A (p.Ile289=)
NM_000051.4(ATM):c.867C>T (p.Ile289=)
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.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.86A>G (p.Lys29Arg)
NM_000051.4(ATM):c.86_89del (p.Lys29fs)
NM_000051.4(ATM):c.870T>G (p.His290Gln)
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.872A>G (p.His291Arg) rs1555067285
NM_000051.4(ATM):c.873T>C (p.His291=) rs1591504717
NM_000051.4(ATM):c.873del (p.Pro292fs)
NM_000051.4(ATM):c.874C>A (p.Pro292Thr)
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)
NM_000051.4(ATM):c.875C>G (p.Pro292Arg) rs747727055
NM_000051.4(ATM):c.875del (p.Pro292fs)
NM_000051.4(ATM):c.876G>T (p.Pro292=) rs755860432
NM_000051.4(ATM):c.877A>G (p.Lys293Glu) rs1057516442
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.879A>G (p.Lys293=) rs864622069
NM_000051.4(ATM):c.879del (p.Gly294fs)
NM_000051.4(ATM):c.87A>G (p.Lys29=) rs1591446799
NM_000051.4(ATM):c.881G>A (p.Gly294Glu) rs1370428326
NM_000051.4(ATM):c.881G>T (p.Gly294Val)
NM_000051.4(ATM):c.884C>T (p.Ala295Val) rs1044092081
NM_000051.4(ATM):c.885C>T (p.Ala295=) rs2135243805
NM_000051.4(ATM):c.885del (p.Thr297fs)
NM_000051.4(ATM):c.886A>C (p.Lys296Gln)
NM_000051.4(ATM):c.886A>G (p.Lys296Glu) rs1591504793
NM_000051.4(ATM):c.887A>G (p.Lys296Arg) rs1064795297
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.889A>G (p.Thr297Ala) rs1340517984
NM_000051.4(ATM):c.889del (p.Thr297fs)
NM_000051.4(ATM):c.88T>A (p.Phe30Ile) rs2078817952
NM_000051.4(ATM):c.890C>T (p.Thr297Ile) rs969263740
NM_000051.4(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.4(ATM):c.891C>T (p.Thr297=)
NM_000051.4(ATM):c.892C>T (p.Gln298Ter) rs2079775247
NM_000051.4(ATM):c.893A>C (p.Gln298Pro) rs2079775401
NM_000051.4(ATM):c.894A>C (p.Gln298His) rs1555067327
NM_000051.4(ATM):c.894A>G (p.Gln298=)
NM_000051.4(ATM):c.895G>A (p.Glu299Lys)
NM_000051.4(ATM):c.895G>C (p.Glu299Gln) rs1273332798
NM_000051.4(ATM):c.895G>T (p.Glu299Ter)
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.897A>G (p.Glu299=) rs2135244327
NM_000051.4(ATM):c.898A>G (p.Lys300Glu) rs2135244347
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.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+14del rs1064795038
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>C rs748840480
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>C rs1218815157
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.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.902-10del rs1565374819
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.902-2A>T rs2079877131
NM_000051.4(ATM):c.902-3C>A
NM_000051.4(ATM):c.902-3C>T
NM_000051.4(ATM):c.902-6T>A rs2079876827
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.902G>T (p.Gly301Val) rs202208861
NM_000051.4(ATM):c.903T>A (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>C (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.4(ATM):c.905C>G (p.Ala302Gly) rs778442248
NM_000051.4(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.4(ATM):c.906T>C (p.Ala302=)
NM_000051.4(ATM):c.907dup (p.Tyr303fs)
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)
NM_000051.4(ATM):c.909T>C (p.Tyr303=) rs1555068288
NM_000051.4(ATM):c.90T>C (p.Phe30=)
NM_000051.4(ATM):c.90del (p.Phe30fs) rs2135011143
NM_000051.4(ATM):c.911A>C (p.Glu304Ala) rs2135264712
NM_000051.4(ATM):c.911A>G (p.Glu304Gly)
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
NM_000051.4(ATM):c.914C>T (p.Ser305Leu) rs1591510485
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000051.4(ATM):c.915A>C (p.Ser305=)
NM_000051.4(ATM):c.916A>C (p.Thr306Pro)
NM_000051.4(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.4(ATM):c.917C>A (p.Thr306Lys) rs1565374923
NM_000051.4(ATM):c.917C>G (p.Thr306Arg) rs1565374923
NM_000051.4(ATM):c.917C>T (p.Thr306Ile) rs1565374923
NM_000051.4(ATM):c.919A>T (p.Lys307Ter)
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.923G>A (p.Trp308Ter) rs1591510553
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.935dup (p.Leu312fs) 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.937T>C (p.Tyr313His)
NM_000051.4(ATM):c.938A>G (p.Tyr313Cys) rs2135265521
NM_000051.4(ATM):c.939C>T (p.Tyr313=) rs1387179773
NM_000051.4(ATM):c.93G>A (p.Lys31=) rs863224583
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.942C>T (p.Asn314=)
NM_000051.4(ATM):c.943T>C (p.Leu315=)
NM_000051.4(ATM):c.944del (p.Leu315fs) rs1565375035
NM_000051.4(ATM):c.945A>G (p.Leu315=)
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn) rs142317485
NM_000051.4(ATM):c.946T>G (p.Tyr316Asp)
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>A (p.Asp317Asn)
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.94C>G (p.Arg32Gly)
NM_000051.4(ATM):c.951T>C (p.Asp317=)
NM_000051.4(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.4(ATM):c.952C>G (p.Leu318Val)
NM_000051.4(ATM):c.953T>G (p.Leu318Arg)
NM_000051.4(ATM):c.954G>A (p.Leu318=) rs1591510739
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.95del (p.Arg32fs)
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.964G>A (p.Glu322Lys)
NM_000051.4(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_000051.4(ATM):c.966G>A (p.Glu322=)
NM_000051.4(ATM):c.966G>C (p.Glu322Asp)
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.970A>C (p.Ser324Arg)
NM_000051.4(ATM):c.970dup (p.Ser324fs)
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.975del (p.His325fs) rs2079883068
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.990A>G (p.Gly330=) rs1555068447
NM_000051.4(ATM):c.990A>T (p.Gly330=) rs1555068447
NM_000051.4(ATM):c.991A>G (p.Lys331Glu) rs1555068451
NM_000051.4(ATM):c.992A>G (p.Lys331Arg)
NM_000051.4(ATM):c.992A>T (p.Lys331Met) rs2079885179
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4(ATM):c.992dup (p.Tyr332fs)
NM_000051.4(ATM):c.993G>C (p.Lys331Asn)
NM_000051.4(ATM):c.993G>T (p.Lys331Asn) rs786202048
NM_000051.4(ATM):c.994T>G (p.Tyr332Asp)
NM_000051.4(ATM):c.995A>C (p.Tyr332Ser)
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.(2838_2839)_(5674_5675)del
NM_000051.4:c.7387_7388insAluYk11
NM_000051.4:c.919_920insAlu
Single allele
c.2249ins9
c.2639del200nt
c.3802delG
c.7271T>G
c.8313-2A>C

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