ClinVar Miner

List of variants reported as uncertain significance for ataxia telangiectasia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6222
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly) rs200441272 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly) rs370567994 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg) rs587782442 0.00014
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
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.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 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.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.572T>A (p.Ile191Asn) rs767132334 0.00009
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 0.00009
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 0.00008
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala) rs1232551114 0.00008
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.1899-123A>G rs55744559 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.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val) rs746709782 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425 0.00006
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
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.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser) rs587779853 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.9031A>G (p.Met3011Val) rs372795527 0.00005
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.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His) rs201594549 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro) rs376521407 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met) rs141534716 0.00004
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu) rs778267979 0.00004
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg) rs587779812 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.1556T>C (p.Val519Ala) rs574458765 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 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.2057T>A (p.Leu686His) rs1239416977 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2180G>T (p.Gly727Val) rs1446080226 0.00003
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe) rs730881345 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.2498G>C (p.Gly833Ala) rs552010421 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 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.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 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.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.4396C>G (p.Arg1466Gly) rs730881369 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.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.4964C>A (p.Ser1655Tyr) rs786201215 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.5566G>A (p.Glu1856Lys) rs1465041573 0.00003
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser) rs587779850 0.00003
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr) rs766901049 0.00003
NM_000051.4(ATM):c.5725A>G (p.Met1909Val) rs750561317 0.00003
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.601C>G (p.Gln201Glu) rs886039666 0.00003
NM_000051.4(ATM):c.6199-3T>C rs1318760213 0.00003
NM_000051.4(ATM):c.6347+6A>C rs750501197 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.6550A>G (p.Ser2184Gly) rs764713766 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
NM_000051.4(ATM):c.6703A>G (p.Met2235Val) rs768791795 0.00003
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835 0.00003
NM_000051.4(ATM):c.7213A>G (p.Met2405Val) rs587781323 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7658C>A (p.Pro2553His) rs864622368 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val) rs368666328 0.00003
NM_000051.4(ATM):c.8785A>C (p.Arg2929=) rs1013290424 0.00003
NM_000051.4(ATM):c.9050T>C (p.Leu3017Pro) rs786204218 0.00003
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly) rs775767808 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.1702A>G (p.Arg568Gly) rs876659425 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.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00002
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu) rs779004090 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.2338A>T (p.Met780Leu) rs587781446 0.00002
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser) rs141947469 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.3371A>T (p.Tyr1124Phe) rs876660498 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.3841A>T (p.Ser1281Cys) rs370785959 0.00002
NM_000051.4(ATM):c.38G>A (p.Arg13His) rs778201041 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr) rs1309605588 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.4662C>A (p.Asn1554Lys) rs776761757 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 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.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.5369A>G (p.Asp1790Gly) rs746945284 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys) rs730881375 0.00002
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val) rs758038580 0.00002
NM_000051.4(ATM):c.6198+5A>G rs771047560 0.00002
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys) rs886039471 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys) rs863224462 0.00002
NM_000051.4(ATM):c.7358G>A (p.Arg2453His) rs587781361 0.00002
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile) rs786203764 0.00002
NM_000051.4(ATM):c.7630-3C>T rs587782448 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.7929A>T (p.Lys2643Asn) rs780247224 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys) rs748016261 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg) rs730881324 0.00002
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678 0.00002
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe) rs752652869 0.00002
NM_000051.4(ATM):c.8797A>G (p.Lys2933Glu) rs587779875 0.00002
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser) rs1485620194 0.00002
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr) rs369870357 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr) rs1064794119 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.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.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.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.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+6G>A rs2080003881 0.00001
NM_000051.4(ATM):c.1236-2dup rs1555070601 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.1314A>G (p.Ile438Met) rs770573462 0.00001
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe) rs773895161 0.00001
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg) rs1591523341 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.1363G>A (p.Val455Met) rs368879876 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.1466G>T (p.Cys489Phe) rs776412334 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.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly) rs766595156 0.00001
NM_000051.4(ATM):c.1550T>G (p.Val517Gly) rs777986229 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.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 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.1709T>C (p.Phe570Ser) rs777301065 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.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.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+4T>A rs1060501685 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.1903C>T (p.His635Tyr) rs761491947 0.00001
NM_000051.4(ATM):c.1907A>G (p.His636Arg) rs1333990758 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.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.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+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp) rs1468938522 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.2176C>A (p.Leu726Ile) rs775266056 0.00001
NM_000051.4(ATM):c.2207C>T (p.Ala736Val) rs587780617 0.00001
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu) rs1017383703 0.00001
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr) rs1060501540 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.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.2374A>G (p.Lys792Glu) rs1423446897 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.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.238C>T (p.Pro80Ser) rs750597831 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.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg) rs372230498 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val) rs730881349 0.00001
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys) rs141054982 0.00001
NM_000051.4(ATM):c.250G>T (p.Ala84Ser) rs1382256509 0.00001
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly) rs748203812 0.00001
NM_000051.4(ATM):c.2564T>C (p.Met855Thr) rs587779824 0.00001
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn) rs587779825 0.00001
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly) rs764842086 0.00001
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu) rs786202977 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.2639-3T>C rs1410247657 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.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.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala) rs1265391373 0.00001
NM_000051.4(ATM):c.2781G>T (p.Leu927Phe) rs770565353 0.00001
NM_000051.4(ATM):c.2786T>C (p.Met929Thr) rs745737218 0.00001
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys) rs56087610 0.00001
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly) rs772054979 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2815A>G (p.Thr939Ala) rs864622606 0.00001
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu) rs1064795896 0.00001
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe) rs1188614092 0.00001
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe) rs3218688 0.00001
NM_000051.4(ATM):c.2829C>A (p.His943Gln) rs1485943190 0.00001
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg) rs565886680 0.00001
NM_000051.4(ATM):c.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.2921C>T (p.Ser974Phe) rs538105098 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.2968A>G (p.Ile990Val) rs899241025 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.3001C>G (p.Leu1001Val) rs377244521 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.3077+5G>A rs777003996 0.00001
NM_000051.4(ATM):c.3077+9del rs2081578007 0.00001
NM_000051.4(ATM):c.3078-17A>G rs2081636353 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.3155C>T (p.Ala1052Val) rs876660350 0.00001
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val) rs761590782 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.322G>A (p.Ala108Thr) rs730881370 0.00001
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683 0.00001
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr) rs1302626569 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.3291C>G (p.Phe1097Leu) rs876658491 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 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.3328G>A (p.Ala1110Thr) rs147112946 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.3341A>T (p.Lys1114Met) rs777705500 0.00001
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser) rs745863765 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.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln) rs786203048 0.00001
NM_000051.4(ATM):c.3443A>G (p.Tyr1148Cys) rs773169285 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.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.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.363A>C (p.Leu121Phe) rs774555120 0.00001
NM_000051.4(ATM):c.3645T>A (p.Asp1215Glu) rs1364817146 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.3728A>G (p.Asn1243Ser) rs730881363 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.3768T>G (p.Ile1256Met) rs765538231 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.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.3857G>T (p.Cys1286Phe) rs876660770 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.3992A>G (p.Gln1331Arg) rs876658669 0.00001
NM_000051.4(ATM):c.3993+3A>G rs771789242 0.00001
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser) rs1064793805 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.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4055A>G (p.His1352Arg) rs925124248 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.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.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.4210A>G (p.Ile1404Val) rs786201832 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 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.4358T>G (p.Ile1453Arg) rs587782126 0.00001
NM_000051.4(ATM):c.4371A>C (p.Leu1457Phe) rs765713557 0.00001
NM_000051.4(ATM):c.439A>G (p.Lys147Glu) rs587782509 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.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.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu) rs587781944 0.00001
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile) rs370574283 0.00001
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala) rs767466937 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.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.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.4618G>T (p.Asp1540Tyr) rs778622948 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.4678A>G (p.Lys1560Glu) rs767981230 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4716G>C (p.Lys1572Asn) rs786203953 0.00001
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala) rs786202473 0.00001
NM_000051.4(ATM):c.475A>G (p.Ile159Val) rs1565357315 0.00001
NM_000051.4(ATM):c.4773G>C (p.Leu1591Phe) rs1345760669 0.00001
NM_000051.4(ATM):c.4777-3T>C rs1468242174 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.4816C>G (p.Leu1606Val) rs746103632 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.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.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu) rs752459491 0.00001
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro) rs1376280581 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.4997A>C (p.Glu1666Ala) rs1457261046 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.5049C>A (p.Phe1683Leu) rs1183084231 0.00001
NM_000051.4(ATM):c.5054C>T (p.Thr1685Ile) rs879254191 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.506C>G (p.Ser169Cys) rs587779843 0.00001
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn) rs767841041 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.5138T>C (p.Ile1713Thr) rs1199544303 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly) rs770882126 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.5195C>G (p.Ala1732Gly) rs1565476801 0.00001
NM_000051.4(ATM):c.5218A>G (p.Ile1740Val) rs1358200819 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.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 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.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 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.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.554T>C (p.Val185Ala) rs730881335 0.00001
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg) rs138710254 0.00001
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu) rs751327903 0.00001
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met) rs587780628 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 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.5707A>G (p.Lys1903Glu) rs765027485 0.00001
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile) rs143577586 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.5776A>G (p.Thr1926Ala) rs781448339 0.00001
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser) rs1286443989 0.00001
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu) rs779692309 0.00001
NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg) rs746676271 0.00001
NM_000051.4(ATM):c.5852A>C (p.His1951Pro) rs1164569755 0.00001
NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn) rs587782503 0.00001
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn) rs786202728 0.00001
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser) rs780867575 0.00001
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp) rs945198632 0.00001
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg) rs786203765 0.00001
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg) rs543980602 0.00001
NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys) rs770722380 0.00001
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys) rs786203404 0.00001
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val) rs1188125296 0.00001
NM_000051.4(ATM):c.5994A>T (p.Gly1998=) rs56046250 0.00001
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn) rs775921052 0.00001
NM_000051.4(ATM):c.5G>A (p.Ser2Asn) rs730881360 0.00001
NM_000051.4(ATM):c.6020A>C (p.Glu2007Ala) rs762001297 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr) rs876660062 0.00001
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser) rs35991214 0.00001
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915 0.00001
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile) rs369349023 0.00001
NM_000051.4(ATM):c.6095+5A>G rs757328753 0.00001
NM_000051.4(ATM):c.6103A>G (p.Thr2035Ala) rs876659555 0.00001
NM_000051.4(ATM):c.6121A>G (p.Met2041Val) rs759753186 0.00001
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr) rs1000032847 0.00001
NM_000051.4(ATM):c.6127G>A (p.Gly2043Ser) rs767939328 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 0.00001
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala) rs1183544857 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro) rs587779854 0.00001
NM_000051.4(ATM):c.6244A>G (p.Lys2082Glu) rs1239942908 0.00001
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg) rs1060501586 0.00001
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu) rs376898203 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.6296A>G (p.His2099Arg) rs587782802 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala) rs1555114835 0.00001
NM_000051.4(ATM):c.6348-3C>T rs946541820 0.00001
NM_000051.4(ATM):c.6365C>G (p.Thr2122Ser) rs1555116369 0.00001
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly) rs876659773 0.00001
NM_000051.4(ATM):c.6373C>T (p.His2125Tyr) rs1201879809 0.00001
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710 0.00001
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu) rs780299607 0.00001
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly) rs752069869 0.00001
NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys) rs1297621371 0.00001
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu) rs587780635 0.00001
NM_000051.4(ATM):c.6466G>A (p.Glu2156Lys) rs1328099740 0.00001
NM_000051.4(ATM):c.6482G>A (p.Arg2161His) rs756626462 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.6505C>G (p.Leu2169Val) rs1064794157 0.00001
NM_000051.4(ATM):c.6517C>T (p.Leu2173Phe) rs1565511354 0.00001
NM_000051.4(ATM):c.6522C>T (p.Ser2174=) rs772850740 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr) rs374551964 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.6629A>C (p.Gln2210Pro) rs1252127806 0.00001
NM_000051.4(ATM):c.663-8C>A rs1060501661 0.00001
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg) rs749261367 0.00001
NM_000051.4(ATM):c.6670A>G (p.Met2224Val) rs545873723 0.00001
NM_000051.4(ATM):c.6671T>C (p.Met2224Thr) rs730881313 0.00001
NM_000051.4(ATM):c.6701T>A (p.Leu2234Gln) rs1158183992 0.00001
NM_000051.4(ATM):c.6710A>C (p.Lys2237Thr) rs35118109 0.00001
NM_000051.4(ATM):c.672G>T (p.Lys224Asn) rs769731317 0.00001
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val) rs587781521 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602 0.00001
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val) rs1365474284 0.00001
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro) rs587781674 0.00001
NM_000051.4(ATM):c.6831A>C (p.Gln2277His) rs1339794219 0.00001
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu) rs756898113 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6868G>A (p.Glu2290Lys) rs1479339581 0.00001
NM_000051.4(ATM):c.6892G>A (p.Val2298Ile) rs1204077610 0.00001
NM_000051.4(ATM):c.6905A>G (p.Lys2302Arg) rs1297586575 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val) rs776429506 0.00001
NM_000051.4(ATM):c.6942A>C (p.Gln2314His) rs764859160 0.00001
NM_000051.4(ATM):c.6944T>C (p.Met2315Thr) rs1555120006 0.00001
NM_000051.4(ATM):c.6950A>C (p.Lys2317Thr) rs750285816 0.00001
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu) rs1449259481 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.6975+5del rs1442949382 0.00001
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile) rs761587154 0.00001
NM_000051.4(ATM):c.6982C>T (p.Pro2328Ser) rs769606850 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7046G>A (p.Cys2349Tyr) rs1223489931 0.00001
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met) rs757293178 0.00001
NM_000051.4(ATM):c.709A>G (p.Thr237Ala) rs376529329 0.00001
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp) rs767494363 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 0.00001
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro) rs876659392 0.00001
NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu) rs747372355 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile) rs567457294 0.00001
NM_000051.4(ATM):c.7214T>C (p.Met2405Thr) rs745440761 0.00001
NM_000051.4(ATM):c.722A>G (p.Lys241Arg) rs1021907990 0.00001
NM_000051.4(ATM):c.7262A>T (p.Lys2421Ile) rs1360453074 0.00001
NM_000051.4(ATM):c.7264G>A (p.Glu2422Lys) rs1163371592 0.00001
NM_000051.4(ATM):c.7289A>G (p.His2430Arg) rs786202856 0.00001
NM_000051.4(ATM):c.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu) rs864622563 0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn) rs751537332 0.00001
NM_000051.4(ATM):c.7322T>C (p.Val2441Ala) rs765548443 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7336G>A (p.Glu2446Lys) rs730881318 0.00001
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val) rs587779863 0.00001
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys) rs755418571 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.738C>G (p.Asn246Lys) rs1335108218 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile) rs769722643 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7466C>T (p.Ser2489Phe) rs759728261 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe) rs1449747119 0.00001
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala) rs754245181 0.00001
NM_000051.4(ATM):c.7496A>G (p.Glu2499Gly) rs1224705805 0.00001
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala) rs779810877 0.00001
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile) rs1266101531 0.00001
NM_000051.4(ATM):c.7512G>A (p.Met2504Ile) rs1350657331 0.00001
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg) rs754395517 0.00001
NM_000051.4(ATM):c.7525A>G (p.Met2509Val) rs979101125 0.00001
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe) rs146069748 0.00001
NM_000051.4(ATM):c.7535C>T (p.Pro2512Leu) rs1237858258 0.00001
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys) rs774312539 0.00001
NM_000051.4(ATM):c.754T>A (p.Cys252Ser) rs863224580 0.00001
NM_000051.4(ATM):c.7553C>T (p.Pro2518Leu) rs879254136 0.00001
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp) rs747145967 0.00001
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu) rs864622688 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-18A>G rs1236081666 0.00001
NM_000051.4(ATM):c.7648A>G (p.Met2550Val) rs878853545 0.00001
NM_000051.4(ATM):c.7656C>A (p.His2552Gln) rs1555124473 0.00001
NM_000051.4(ATM):c.7664A>G (p.His2555Arg) rs876658925 0.00001
NM_000051.4(ATM):c.7670T>G (p.Leu2557Trp) rs2086293039 0.00001
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val) rs1208002418 0.00001
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr) rs940285361 0.00001
NM_000051.4(ATM):c.7720A>C (p.Lys2574Gln) rs1357229307 0.00001
NM_000051.4(ATM):c.7727A>G (p.Glu2576Gly) rs1202657573 0.00001
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly) rs750224234 0.00001
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln) rs140263969 0.00001
NM_000051.4(ATM):c.7843C>G (p.Gln2615Glu) rs773159296 0.00001
NM_000051.4(ATM):c.7847T>C (p.Met2616Thr) rs762765902 0.00001
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly) rs766351395 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.787C>T (p.Leu263Phe) rs876659531 0.00001
NM_000051.4(ATM):c.7897T>G (p.Leu2633Val) rs587779868 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.7902T>G (p.Asp2634Glu) rs373147078 0.00001
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly) rs563137460 0.00001
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys) rs758843096 0.00001
NM_000051.4(ATM):c.7927+4T>C rs1335862267 0.00001
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val) rs876660877 0.00001
NM_000051.4(ATM):c.7957A>G (p.Ile2653Val) rs747448699 0.00001
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe) rs747448699 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr) rs1060501566 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys) rs786202859 0.00001
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg) rs766730487 0.00001
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser) rs1175177178 0.00001
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val) rs587781344 0.00001
NM_000051.4(ATM):c.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8098A>G (p.Lys2700Glu) rs758588019 0.00001
NM_000051.4(ATM):c.8108A>G (p.Asp2703Gly) rs1565541059 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8173G>C (p.Asp2725His) rs587782049 0.00001
NM_000051.4(ATM):c.8175T>A (p.Asp2725Glu) rs1431188311 0.00001
NM_000051.4(ATM):c.8196C>G (p.Phe2732Leu) rs1183442138 0.00001
NM_000051.4(ATM):c.8207A>G (p.Asn2736Ser) rs1190456608 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala) rs764003317 0.00001
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg) rs779145081 0.00001
NM_000051.4(ATM):c.8254A>G (p.Ile2752Val) rs1215163673 0.00001
NM_000051.4(ATM):c.8258G>A (p.Cys2753Tyr) rs1284049490 0.00001
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile) rs587779871 0.00001
NM_000051.4(ATM):c.8269G>A (p.Val2757Met) rs761625350 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8278C>G (p.Leu2760Val) rs758609900 0.00001
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln) rs551411717 0.00001
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239 0.00001
NM_000051.4(ATM):c.8317A>G (p.Thr2773Ala) rs2087819658 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 0.00001
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His) rs1020805015 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.8395T>G (p.Phe2799Val) rs730881323 0.00001
NM_000051.4(ATM):c.839T>C (p.Ile280Thr) rs587782080 0.00001
NM_000051.4(ATM):c.8400G>C (p.Gln2800His) rs879253901 0.00001
NM_000051.4(ATM):c.8437T>C (p.Phe2813Leu) rs1280239284 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8461A>G (p.Met2821Val) rs876660081 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val) rs756230327 0.00001
NM_000051.4(ATM):c.8561G>T (p.Arg2854Leu) rs1060501605 0.00001
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile) rs777648248 0.00001
NM_000051.4(ATM):c.8572A>G (p.Thr2858Ala) rs749193688 0.00001
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val) rs1555138472 0.00001
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val) rs786202223 0.00001
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile) rs730881327 0.00001
NM_000051.4(ATM):c.8624A>C (p.Asn2875Thr) rs587782451 0.00001
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile) rs1064795066 0.00001
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly) rs876658236 0.00001
NM_000051.4(ATM):c.8672-3T>C rs1060501550 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.86A>C (p.Lys29Thr) rs147009251 0.00001
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile) rs587780643 0.00001
NM_000051.4(ATM):c.8717T>C (p.Val2906Ala) rs730881328 0.00001
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met) rs587782264 0.00001
NM_000051.4(ATM):c.8744T>C (p.Val2915Ala) rs2089511171 0.00001
NM_000051.4(ATM):c.8751C>T (p.Gly2917=) rs779858366 0.00001
NM_000051.4(ATM):c.8752A>T (p.Met2918Leu) rs1555142873 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8800A>G (p.Thr2934Ala) rs746351323 0.00001
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile) rs772621438 0.00001
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln) rs1060501537 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys) rs898091069 0.00001
NM_000051.4(ATM):c.884C>A (p.Ala295Asp) rs1044092081 0.00001
NM_000051.4(ATM):c.8850+3A>G rs769427492 0.00001
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys) rs767507047 0.00001
NM_000051.4(ATM):c.8875G>T (p.Asp2959Tyr) rs1400589510 0.00001
NM_000051.4(ATM):c.887A>C (p.Lys296Thr) rs1064795297 0.00001
NM_000051.4(ATM):c.8889T>A (p.Asn2963Lys) rs1476881353 0.00001
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg) rs763773991 0.00001
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile) rs786203721 0.00001
NM_000051.4(ATM):c.8948C>A (p.Thr2983Asn) rs1472935232 0.00001
NM_000051.4(ATM):c.8950C>A (p.Leu2984Met) rs747445236 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln) rs587778081 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val) rs1319582645 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9043G>C (p.Glu3015Gln) rs1591387120 0.00001
NM_000051.4(ATM):c.9058G>T (p.Val3020Leu) rs1386313592 0.00001
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile) rs786203183 0.00001
NM_000051.4(ATM):c.9088G>A (p.Gly3030Arg) rs879254215 0.00001
NM_000051.4(ATM):c.9094G>C (p.Val3032Leu) rs587779877 0.00001
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg) rs867893961 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.931A>G (p.Ile311Val) rs876658322 0.00001
NM_000051.4(ATM):c.947A>G (p.Tyr316Cys) rs1340280916 0.00001
NM_000051.4(ATM):c.958G>A (p.Val320Met) rs1060501655 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.989G>C (p.Gly330Ala) rs762179829 0.00001
NC_000011.10:g.(?_108121587)_(108365528_?)dup
NC_000011.10:g.(?_108227615)_(108259085_?)dup
NC_000011.10:g.(?_108244778)_(108365518_?)dup
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.(?_108272522)_(108282889_?)dup
NC_000011.10:g.(?_108297277)_(108297392_?)dup
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.108312411_108312413dup
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NC_000011.9:g.(?_108093770)_(108216645_?)dup
NC_000011.9:g.(?_108098320)_(108138753_?)dup
NC_000011.9:g.(?_108098342)_(108117864_?)dup
NC_000011.9:g.(?_108098342)_(108158452_?)dup
NC_000011.9:g.(?_108098342)_(108236245_?)dup
NC_000011.9:g.(?_108098346)_(108151901_?)dup
NC_000011.9:g.(?_108098346)_(108236241_?)dup
NC_000011.9:g.(?_108098352)_(108098625_?)dup
NC_000011.9:g.(?_108098352)_(108106571_?)dup
NC_000011.9:g.(?_108098352)_(108117864_?)dup
NC_000011.9:g.(?_108098352)_(108143354_?)dup
NC_000011.9:g.(?_108098352)_(108192167_?)dup
NC_000011.9:g.(?_108098352)_(108216655_?)dup
NC_000011.9:g.(?_108098352)_(108236235_?)dup
NC_000011.9:g.(?_108099895)_(108119839_?)dup
NC_000011.9:g.(?_108106377)_(108236235_?)dup
NC_000011.9:g.(?_108106387)_(108236235_?)dup
NC_000011.9:g.(?_108114670)_(108236235_?)dup
NC_000011.9:g.(?_108115495)_(108236235_?)dup
NC_000011.9:g.(?_108115509)_(108236241_?)dup
NC_000011.9:g.(?_108126932)_(108129812_?)del
NC_000011.9:g.(?_108126936)_(108129808_?)dup
NC_000011.9:g.(?_108126936)_(108236241_?)dup
NC_000011.9:g.(?_108128198)_(108128343_?)del
NC_000011.9:g.(?_108129703)_(108236235_?)dup
NC_000011.9:g.(?_108137878)_(108236235_?)dup
NC_000011.9:g.(?_108137888)_(108141215_?)del
NC_000011.9:g.(?_108137888)_(108236245_?)dup
NC_000011.9:g.(?_108143253)_(108153612_?)dup
NC_000011.9:g.(?_108159694)_(108160538_?)del
NC_000011.9:g.(?_108163336)_(108236235_?)dup
NC_000011.9:g.(?_108168004)_(108168119_?)del
NC_000011.9:g.(?_108170431)_(108175589_?)dup
NC_000011.9:g.(?_108170929)_(108196046_?)del
NC_000011.9:g.(?_108172365)_(108236235_?)dup
NC_000011.9:g.(?_108172365)_(108236245_?)dup
NC_000011.9:g.(?_108190671)_(108190795_?)dup
NC_000011.9:g.(?_108205686)_(108236245_?)dup
NC_000011.9:g.(?_108205690)_(108236241_?)dup
NC_000011.9:g.(?_108206552)_(108369093_?)dup
NC_000011.9:g.(?_108206566)_(108236241_?)dup
NC_000011.9:g.(?_108213939)_(108236235_?)dup
NC_000011.9:g.(?_108235789)_(108236235_?)dup
NM_000051.3(ATM):c.(?_-1)_4109+?dup
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.8851-?_*3591dup3912
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu) rs1440510829
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys) rs1018587967
NM_000051.4(ATM):c.1008T>G (p.Phe336Leu) rs1555068492
NM_000051.4(ATM):c.1009C>A (p.Arg337Ser) rs138398778
NM_000051.4(ATM):c.100A>G (p.Ile34Val) rs1555054094
NM_000051.4(ATM):c.1010G>T (p.Arg337Leu) rs202160435
NM_000051.4(ATM):c.1012A>C (p.Asn338His) rs751800302
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp) rs751800302
NM_000051.4(ATM):c.1014T>A (p.Asn338Lys)
NM_000051.4(ATM):c.1015A>G (p.Ile339Val) rs876659567
NM_000051.4(ATM):c.1016T>C (p.Ile339Thr) rs2079887536
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.1025A>G (p.Lys342Arg) rs1064794119
NM_000051.4(ATM):c.1027G>A (p.Glu343Lys) rs2135268427
NM_000051.4(ATM):c.1030A>G (p.Asn344Asp)
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr) rs587782526
NM_000051.4(ATM):c.1034T>C (p.Leu345Ser)
NM_000051.4(ATM):c.1036A>G (p.Ile346Val) rs1565375699
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn) rs1060501526
NM_000051.4(ATM):c.1038T>G (p.Ile346Met) rs749950833
NM_000051.4(ATM):c.1039G>C (p.Glu347Gln) rs529202615
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.4(ATM):c.1041A>C (p.Glu347Asp)
NM_000051.4(ATM):c.1041A>T (p.Glu347Asp)
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser) rs2079890107
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe) rs879254039
NM_000051.4(ATM):c.1045A>T (p.Met349Leu)
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.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.1056C>G (p.Ile352Met) rs1555068605
NM_000051.4(ATM):c.1057T>C (p.Cys353Arg) rs2135269388
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr) rs1591511538
NM_000051.4(ATM):c.1060C>T (p.His354Tyr) rs2079892237
NM_000051.4(ATM):c.1064A>G (p.Gln355Arg) rs2079892563
NM_000051.4(ATM):c.1065+11T>C
NM_000051.4(ATM):c.1065+13G>A rs2135270116
NM_000051.4(ATM):c.1065+3A>G rs1282724169
NM_000051.4(ATM):c.1065+4del rs2135269839
NM_000051.4(ATM):c.1065+5A>C rs1204741025
NM_000051.4(ATM):c.1065+9A>G
NM_000051.4(ATM):c.1065+9del
NM_000051.4(ATM):c.1065G>A (p.Gln355=)
NM_000051.4(ATM):c.1066-16_1066-10del
NM_000051.4(ATM):c.1066-3C>T rs1565378708
NM_000051.4(ATM):c.1066G>A (p.Val356Ile) rs2079987798
NM_000051.4(ATM):c.1070T>C (p.Phe357Ser) rs2135290032
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys) rs2079988487
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.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.1088C>T (p.Ser363Phe) rs1555069560
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.1095_1101delinsA (p.Ile366_Ser367del) rs878853481
NM_000051.4(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro) rs879254236
NM_000051.4(ATM):c.10G>T (p.Val4Leu) rs1438588853
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr) rs2079990831
NM_000051.4(ATM):c.1100C>T (p.Ser367Phe) rs2079990831
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.4(ATM):c.1102_1107del (p.Gln368_Ser369del) rs2079990728
NM_000051.4(ATM):c.1103A>G (p.Gln368Arg)
NM_000051.4(ATM):c.1104A>C (p.Gln368His) rs560691658
NM_000051.4(ATM):c.1106C>G (p.Ser369Cys) rs762557654
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.110C>G (p.Pro37Arg) rs1591446947
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala) rs1565378985
NM_000051.4(ATM):c.1112C>G (p.Thr371Ser) rs879254289
NM_000051.4(ATM):c.1114A>T (p.Thr372Ser)
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile) rs765912563
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.1120C>G (p.Gln374Glu) rs1185204988
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg) rs1555069640
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.1133G>A (p.Ser378Asn) rs1591517681
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.4(ATM):c.1141A>G (p.Ser381Gly) rs786203602
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn) rs1462596554
NM_000051.4(ATM):c.1142G>C (p.Ser381Thr) rs1462596554
NM_000051.4(ATM):c.1142G>T (p.Ser381Ile) rs1462596554
NM_000051.4(ATM):c.1145T>A (p.Val382Asp)
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.1150T>G (p.Cys384Gly) rs2135293079
NM_000051.4(ATM):c.1151G>C (p.Cys384Ser)
NM_000051.4(ATM):c.1154_1156del (p.Lys385del) rs2135293203
NM_000051.4(ATM):c.1157G>A (p.Arg386Lys) rs878853484
NM_000051.4(ATM):c.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>C (p.Lys387Asn)
NM_000051.4(ATM):c.1162A>G (p.Lys388Glu) rs876659570
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg) rs1060501618
NM_000051.4(ATM):c.1164A>T (p.Lys388Asn)
NM_000051.4(ATM):c.1165A>C (p.Ile389Leu) rs1060501704
NM_000051.4(ATM):c.1165A>G (p.Ile389Val) rs1060501704
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr) rs757486696
NM_000051.4(ATM):c.1169A>G (p.Glu390Gly) rs2135293668
NM_000051.4(ATM):c.1171C>A (p.Leu391Ile) rs2135293721
NM_000051.4(ATM):c.1175G>T (p.Gly392Val) rs779035681
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.1177T>C (p.Trp393Arg)
NM_000051.4(ATM):c.1177T>G (p.Trp393Gly) rs2135293953
NM_000051.4(ATM):c.1184T>C (p.Val395Ala) rs1591517993
NM_000051.4(ATM):c.1187_1188delinsAT (p.Ile396Asn) rs2079998724
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.1191A>C (p.Lys397Asn) rs2079999164
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.4(ATM):c.1193A>T (p.Asp398Val)
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu) rs551872656
NM_000051.4(ATM):c.1195C>T (p.His399Tyr) rs1565379474
NM_000051.4(ATM):c.1197C>G (p.His399Gln) rs786201131
NM_000051.4(ATM):c.1199T>C (p.Leu400Pro)
NM_000051.4(ATM):c.1199T>G (p.Leu400Arg)
NM_000051.4(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.4(ATM):c.1201C>G (p.Gln401Glu) rs772529339
NM_000051.4(ATM):c.1203G>T (p.Gln401His) rs1214283617
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr) rs1591518138
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu) rs747563556
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu) rs730881340
NM_000051.4(ATM):c.1213A>G (p.Asn405Asp)
NM_000051.4(ATM):c.1219T>G (p.Phe407Val)
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly) rs587781582
NM_000051.4(ATM):c.1225C>A (p.Leu409Ile) rs786203815
NM_000051.4(ATM):c.1228G>A (p.Val410Met) rs863224555
NM_000051.4(ATM):c.1235+4A>G rs786203147
NM_000051.4(ATM):c.1235+4A>T rs786203147
NM_000051.4(ATM):c.1235+5A>C rs1064793679
NM_000051.4(ATM):c.1235+5A>G rs1064793679
NM_000051.4(ATM):c.1236-3T>A rs763976313
NM_000051.4(ATM):c.1236-3T>C rs763976313
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>G (p.Ile415Met) rs1060501554
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.124C>A (p.His42Asn) rs1591447034
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
NM_000051.4(ATM):c.1258A>C (p.Ile420Leu) rs1565381867
NM_000051.4(ATM):c.1259T>C (p.Ile420Thr) rs2080090371
NM_000051.4(ATM):c.1266G>C (p.Lys422Asn) rs1057520445
NM_000051.4(ATM):c.1267T>C (p.Tyr423His)
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala) rs1591522957
NM_000051.4(ATM):c.1270C>T (p.Pro424Ser)
NM_000051.4(ATM):c.1271C>T (p.Pro424Leu) rs147472613
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr) rs769214234
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1274C>T (p.Ala425Val) rs1301649540
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn) rs1350528190
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.1282C>A (p.Pro428Thr)
NM_000051.4(ATM):c.1283C>A (p.Pro428His)
NM_000051.4(ATM):c.1294_1295delinsGG (p.Leu432Gly)
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg) rs546621356
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)
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.1307T>A (p.Leu436Gln) rs1060501608
NM_000051.4(ATM):c.1309A>C (p.Met437Leu) rs2135318098
NM_000051.4(ATM):c.1309A>T (p.Met437Leu)
NM_000051.4(ATM):c.130G>C (p.Asp44His)
NM_000051.4(ATM):c.130G>T (p.Asp44Tyr) rs1320733816
NM_000051.4(ATM):c.1315C>A (p.Leu439Ile)
NM_000051.4(ATM):c.1316T>A (p.Leu439Gln) rs2080095349
NM_000051.4(ATM):c.1316T>C (p.Leu439Pro) rs2080095349
NM_000051.4(ATM):c.131A>T (p.Asp44Val) rs150143957
NM_000051.4(ATM):c.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.1327C>G (p.Leu443Val) rs1057524185
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.1336C>A (p.Gln446Lys) rs587782121
NM_000051.4(ATM):c.1337A>G (p.Gln446Arg) rs1292838154
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.1342C>G (p.His448Asp)
NM_000051.4(ATM):c.1342C>T (p.His448Tyr) rs2080098243
NM_000051.4(ATM):c.1343A>T (p.His448Leu)
NM_000051.4(ATM):c.1345G>A (p.Gly449Arg)
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys) rs1555070786
NM_000051.4(ATM):c.1351C>G (p.Arg451Gly) rs201719927
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.1354A>T (p.Thr452Ser) rs1324524747
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.1360T>C (p.Tyr454His) rs1555070814
NM_000051.4(ATM):c.1364T>C (p.Val455Ala) rs876658772
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.1372T>C (p.Cys458Arg) rs876660619
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr) rs1064796013
NM_000051.4(ATM):c.1374C>G (p.Cys458Trp) rs2135320531
NM_000051.4(ATM):c.1375C>G (p.Leu459Val) rs1064794635
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro) rs587782729
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.1381G>A (p.Glu461Lys) rs781578507
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly) rs2080102342
NM_000051.4(ATM):c.1385T>C (p.Val462Ala) rs1555070869
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr) rs1565382695
NM_000051.4(ATM):c.1388C>G (p.Ala463Gly)
NM_000051.4(ATM):c.138T>G (p.His46Gln) rs770834907
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe) rs760191806
NM_000051.4(ATM):c.1393T>C (p.Cys465Arg)
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg) rs770028453
NM_000051.4(ATM):c.1398A>G (p.Gln466=) rs1591523834
NM_000051.4(ATM):c.1399G>A (p.Asp467Asn) rs2135321547
NM_000051.4(ATM):c.13C>G (p.Leu5Val) rs2078805774
NM_000051.4(ATM):c.13C>T (p.Leu5Phe)
NM_000051.4(ATM):c.1401C>A (p.Asp467Glu) rs2135321564
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu) rs876660820
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg) rs1060501628
NM_000051.4(ATM):c.1406G>A (p.Arg469Lys)
NM_000051.4(ATM):c.1409C>T (p.Ser470Leu) rs1591523878
NM_000051.4(ATM):c.1411A>C (p.Asn471His) rs2080104786
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.1421G>T (p.Ser474Ile) rs876659240
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.1429A>G (p.Lys477Glu) rs2080106015
NM_000051.4(ATM):c.142G>C (p.Asp48His) rs2135013650
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
NM_000051.4(ATM):c.1432T>C (p.Ser478Pro) rs2080106232
NM_000051.4(ATM):c.1433C>T (p.Ser478Leu)
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.4(ATM):c.1436A>C (p.Asp479Ala) rs1555070958
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile) rs879254243
NM_000051.4(ATM):c.143A>G (p.Asp48Gly) rs2078822797
NM_000051.4(ATM):c.1440A>T (p.Leu480Phe) rs370240037
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe) rs753808755
NM_000051.4(ATM):c.1444A>G (p.Lys482Glu)
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.1450T>C (p.Trp484Arg) rs2080108178
NM_000051.4(ATM):c.1453A>G (p.Asn485Asp)
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys) rs1385019623
NM_000051.4(ATM):c.1456A>G (p.Lys486Glu)
NM_000051.4(ATM):c.145T>A (p.Ser49Thr) rs2135013712
NM_000051.4(ATM):c.1460T>C (p.Ile487Thr)
NM_000051.4(ATM):c.1462T>C (p.Trp488Arg) rs2135323595
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)
NM_000051.4(ATM):c.1463G>T (p.Trp488Leu)
NM_000051.4(ATM):c.1464G>C (p.Trp488Cys) rs377597949
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly) rs1591524158
NM_000051.4(ATM):c.1466G>C (p.Cys489Ser) rs776412334
NM_000051.4(ATM):c.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.1478G>A (p.Arg493His) rs1565383235
NM_000051.4(ATM):c.1481G>C (p.Gly494Ala)
NM_000051.4(ATM):c.1481G>T (p.Gly494Val) rs786202233
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1484T>G (p.Ile495Arg)
NM_000051.4(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile) rs778890679
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr) rs2080111322
NM_000051.4(ATM):c.1488T>A (p.Ser496Arg)
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr) rs1375637948
NM_000051.4(ATM):c.1490C>A (p.Ser497Tyr)
NM_000051.4(ATM):c.1490C>T (p.Ser497Phe) rs2135324525
NM_000051.4(ATM):c.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.1498A>C (p.Ile500Leu) rs2080112487
NM_000051.4(ATM):c.1500A>G (p.Ile500Met) rs2135324896
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr) rs2080112799
NM_000051.4(ATM):c.1507G>A (p.Glu503Lys)
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp) rs2135325176
NM_000051.4(ATM):c.1511A>C (p.Asn504Thr) rs56365018
NM_000051.4(ATM):c.1513T>C (p.Phe505Leu) rs1591524421
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser) rs1555071109
NM_000051.4(ATM):c.151_153del (p.Gln51del)
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.1525G>A (p.Gly509Arg)
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)
NM_000051.4(ATM):c.1528G>A (p.Ala510Thr) rs1555071138
NM_000051.4(ATM):c.1531A>G (p.Ile511Val) rs1591524572
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr) rs2080115491
NM_000051.4(ATM):c.1532T>G (p.Ile511Arg) rs2080115491
NM_000051.4(ATM):c.1533A>G (p.Ile511Met) rs2080115604
NM_000051.4(ATM):c.1535T>G (p.Ile512Ser) rs2135326136
NM_000051.4(ATM):c.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.1540G>T (p.Gly514Cys) rs1591524652
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.1549G>A (p.Val517Ile) rs2080117236
NM_000051.4(ATM):c.154G>A (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.154G>C (p.Gly52Arg) rs730881362
NM_000051.4(ATM):c.1550T>A (p.Val517Asp) rs777986229
NM_000051.4(ATM):c.1550T>C (p.Val517Ala) rs777986229
NM_000051.4(ATM):c.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.1561A>G (p.Arg521Gly) rs2080118357
NM_000051.4(ATM):c.1564G>A (p.Glu522Lys) rs2080118610
NM_000051.4(ATM):c.1566A>C (p.Glu522Asp)
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser) rs768038315
NM_000051.4(ATM):c.1569C>G (p.Phe523Leu)
NM_000051.4(ATM):c.1572G>C (p.Trp524Cys) rs1060501667
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn) rs587780613
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser) rs2080119755
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala) rs876658647
NM_000051.4(ATM):c.1583C>G (p.Thr528Ser)
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu) rs1555071242
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu) rs2080120731
NM_000051.4(ATM):c.158A>C (p.Lys53Thr)
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.1598G>T (p.Arg533Ile) rs2080121541
NM_000051.4(ATM):c.1600C>T (p.Pro534Ser)
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg) rs2135328461
NM_000051.4(ATM):c.1607+10_1607+11delinsTT
NM_000051.4(ATM):c.1607+2dup rs2135328592
NM_000051.4(ATM):c.1607+3A>G rs2080122454
NM_000051.4(ATM):c.1607+4A>G
NM_000051.4(ATM):c.1607+5G>A rs766535949
NM_000051.4(ATM):c.1607G>C (p.Cys536Ser)
NM_000051.4(ATM):c.1607G>T (p.Cys536Phe) rs769788188
NM_000051.4(ATM):c.1608-5T>C
NM_000051.4(ATM):c.1608-6T>C
NM_000051.4(ATM):c.1608T>C (p.Cys536=) rs2080162888
NM_000051.4(ATM):c.1608T>G (p.Cys536Trp)
NM_000051.4(ATM):c.1610C>A (p.Pro537His) rs587782463
NM_000051.4(ATM):c.1610C>G (p.Pro537Arg) rs587782463
NM_000051.4(ATM):c.1610C>T (p.Pro537Leu) rs587782463
NM_000051.4(ATM):c.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.1621T>C (p.Cys541Arg) rs2080164132
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr) rs1555071682
NM_000051.4(ATM):c.1622G>C (p.Cys541Ser) rs1555071682
NM_000051.4(ATM):c.1624T>G (p.Leu542Val) rs587781366
NM_000051.4(ATM):c.1625T>G (p.Leu542Trp)
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile) rs772874616
NM_000051.4(ATM):c.1633G>A (p.Ala545Thr) rs1565385130
NM_000051.4(ATM):c.1633G>C (p.Ala545Pro) rs1565385130
NM_000051.4(ATM):c.1637T>C (p.Leu546Pro) rs1565385177
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
NM_000051.4(ATM):c.1640C>T (p.Thr547Ile) rs786203572
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
NM_000051.4(ATM):c.1645A>G (p.Ser549Gly)
NM_000051.4(ATM):c.1645A>T (p.Ser549Cys)
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn) rs2080166953
NM_000051.4(ATM):c.1646G>C (p.Ser549Thr)
NM_000051.4(ATM):c.1649T>C (p.Ile550Thr) rs864622285
NM_000051.4(ATM):c.1649T>G (p.Ile550Arg) rs864622285
NM_000051.4(ATM):c.164T>G (p.Leu55Trp) rs1565344888
NM_000051.4(ATM):c.1650A>G (p.Ile550Met) rs1060501606
NM_000051.4(ATM):c.1651G>A (p.Val551Ile) rs1555071742
NM_000051.4(ATM):c.1651G>T (p.Val551Phe) rs1555071742
NM_000051.4(ATM):c.1654C>G (p.Pro552Ala)
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg) rs2135340121
NM_000051.4(ATM):c.1655C>T (p.Pro552Leu)
NM_000051.4(ATM):c.1658G>A (p.Gly553Glu)
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.1661C>A (p.Thr554Lys) rs1060501694
NM_000051.4(ATM):c.1663G>T (p.Val555Leu) rs2080168708
NM_000051.4(ATM):c.1665A>G (p.Val555=) rs754367168
NM_000051.4(ATM):c.1666A>G (p.Lys556Glu)
NM_000051.4(ATM):c.1669A>G (p.Met557Val) rs1427517965
NM_000051.4(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.4(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala) rs1064795257
NM_000051.4(ATM):c.1676T>C (p.Ile559Thr) rs2080169884
NM_000051.4(ATM):c.1677A>G (p.Ile559Met) rs1190611996
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly) rs762476611
NM_000051.4(ATM):c.1681C>G (p.Gln561Glu) rs2080170537
NM_000051.4(ATM):c.1683A>T (p.Gln561His)
NM_000051.4(ATM):c.1684A>G (p.Asn562Asp)
NM_000051.4(ATM):c.1685A>C (p.Asn562Thr) rs368209025
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile) rs368209025
NM_000051.4(ATM):c.1688T>C (p.Met563Thr)
NM_000051.4(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>C (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>T (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.168T>G (p.Asn56Lys) rs1591447362
NM_000051.4(ATM):c.1691G>T (p.Cys564Phe)
NM_000051.4(ATM):c.1692T>G (p.Cys564Trp)
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys) rs2080171822
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)
NM_000051.4(ATM):c.1697T>C (p.Val566Ala) rs2080172143
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.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.4(ATM):c.1705A>T (p.Ser569Cys)
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile) rs749216212
NM_000051.4(ATM):c.1714T>G (p.Leu572Val) rs749216212
NM_000051.4(ATM):c.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.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.4(ATM):c.1729A>C (p.Met577Leu) rs1555071919
NM_000051.4(ATM):c.172G>A (p.Asp58Asn) rs876660661
NM_000051.4(ATM):c.172G>C (p.Asp58His) rs876660661
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln) rs1555071926
NM_000051.4(ATM):c.1732A>G (p.Lys578Glu)
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg) rs1266358260
NM_000051.4(ATM):c.1735T>G (p.Trp579Gly)
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.1745T>G (p.Phe582Cys)
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.1752G>C (p.Gln584His)
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.1763A>G (p.Asp588Gly) rs2080177696
NM_000051.4(ATM):c.176C>T (p.Ala59Val) rs760880388
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.1778C>G (p.Thr593Arg) rs2135343992
NM_000051.4(ATM):c.1778C>T (p.Thr593Ile) rs2135343992
NM_000051.4(ATM):c.1783G>A (p.Val595Met) rs2080179332
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.1789C>G (p.Pro597Ala) rs1555072070
NM_000051.4(ATM):c.178G>A (p.Val60Ile) rs1166668199
NM_000051.4(ATM):c.178G>C (p.Val60Leu) rs1166668199
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu) rs730881343
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe) rs1312313805
NM_000051.4(ATM):c.1796T>C (p.Leu599Pro) rs1555072082
NM_000051.4(ATM):c.1798C>A (p.His600Asn) rs1555072089
NM_000051.4(ATM):c.1798C>T (p.His600Tyr) rs1555072089
NM_000051.4(ATM):c.1799A>G (p.His600Arg) rs2080180530
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly) rs1591528484
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.1802G>A (p.Ser601Asn) rs763402339
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr) rs763402339
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp) rs2080226309
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.1811C>G (p.Pro604Arg)
NM_000051.4(ATM):c.1811C>T (p.Pro604Leu) rs1565387411
NM_000051.4(ATM):c.1813C>G (p.His605Asp) rs786202928
NM_000051.4(ATM):c.1813C>T (p.His605Tyr) rs786202928
NM_000051.4(ATM):c.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.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.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>T (p.Glu609Asp) rs1555072460
NM_000051.4(ATM):c.1829A>G (p.Lys610Arg) rs1555072464
NM_000051.4(ATM):c.1829A>T (p.Lys610Ile)
NM_000051.4(ATM):c.182T>C (p.Phe61Ser) rs786203063
NM_000051.4(ATM):c.1830A>C (p.Lys610Asn)
NM_000051.4(ATM):c.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.1837G>A (p.Val613Met) rs200124136
NM_000051.4(ATM):c.1838T>C (p.Val613Ala) rs762018538
NM_000051.4(ATM):c.1841G>A (p.Ser614Asn)
NM_000051.4(ATM):c.1841G>T (p.Ser614Ile) rs770377706
NM_000051.4(ATM):c.1842T>A (p.Ser614Arg) rs1060501523
NM_000051.4(ATM):c.1843C>G (p.Leu615Val) rs1380546088
NM_000051.4(ATM):c.1844T>A (p.Leu615His)
NM_000051.4(ATM):c.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.1849A>G (p.Met617Val) rs1555072530
NM_000051.4(ATM):c.184A>G (p.Arg62Gly) rs876659407
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.1851G>A (p.Met617Ile)
NM_000051.4(ATM):c.1856A>T (p.Asn619Ile)
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.186-13T>A rs2135032350
NM_000051.4(ATM):c.1868C>T (p.Ala623Val)
NM_000051.4(ATM):c.1870A>C (p.Met624Leu) rs863224557
NM_000051.4(ATM):c.1872G>C (p.Met624Ile) rs1060501530
NM_000051.4(ATM):c.1873A>T (p.Asn625Tyr) rs2080231346
NM_000051.4(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.4(ATM):c.1889T>C (p.Val630Ala) rs587782226
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu) rs756782634
NM_000051.4(ATM):c.1897T>C (p.Cys633Arg) rs1555072606
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.1898G>C (p.Cys633Ser)
NM_000051.4(ATM):c.1899-17A>G rs2135365023
NM_000051.4(ATM):c.1899-18G>T
NM_000051.4(ATM):c.1899-24_1899-5del
NM_000051.4(ATM):c.1899-3A>G rs1555073062
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.1899-8T>A
NM_000051.4(ATM):c.1899-8T>C
NM_000051.4(ATM):c.1899-8dup
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp) rs1040176168
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.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.190T>G (p.Leu64Val)
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn) rs587781753
NM_000051.4(ATM):c.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.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.1921G>C (p.Glu641Gln)
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1924G>A (p.Glu642Lys) rs1057519364
NM_000051.4(ATM):c.1927C>T (p.Leu643Phe)
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr) rs1555073128
NM_000051.4(ATM):c.1930T>C (p.Ser644Pro)
NM_000051.4(ATM):c.1931C>T (p.Ser644Leu)
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
NM_000051.4(ATM):c.1935C>G (p.Phe645Leu) rs876659709
NM_000051.4(ATM):c.1936T>C (p.Ser646Pro) rs1485023251
NM_000051.4(ATM):c.1937C>T (p.Ser646Leu)
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys) rs1060501599
NM_000051.4(ATM):c.1941A>C (p.Glu647Asp) rs2080297000
NM_000051.4(ATM):c.1942G>A (p.Val648Ile)
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.194A>G (p.Gln65Arg) rs760471526
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.1957C>T (p.Leu653Phe)
NM_000051.4(ATM):c.195G>C (p.Gln65His) rs1555055072
NM_000051.4(ATM):c.1962G>T (p.Gln654His) rs1416371202
NM_000051.4(ATM):c.1963A>G (p.Thr655Ala)
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile) rs2080299187
NM_000051.4(ATM):c.1967C>T (p.Thr656Ile) rs754800755
NM_000051.4(ATM):c.196A>G (p.Lys66Glu) rs1565346656
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn) rs1343017824
NM_000051.4(ATM):c.1972G>C (p.Asp658His) rs1343017824
NM_000051.4(ATM):c.1973A>T (p.Asp658Val) rs1177954052
NM_000051.4(ATM):c.1974C>G (p.Asp658Glu) rs1555073229
NM_000051.4(ATM):c.1975A>C (p.Lys659Gln)
NM_000051.4(ATM):c.1975A>G (p.Lys659Glu)
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.4(ATM):c.1976A>T (p.Lys659Met) rs1565390043
NM_000051.4(ATM):c.1977G>C (p.Lys659Asn) rs1060501565
NM_000051.4(ATM):c.1979T>A (p.Met660Lys) rs1298234172
NM_000051.4(ATM):c.1979T>C (p.Met660Thr) rs1298234172
NM_000051.4(ATM):c.1980G>A (p.Met660Ile)
NM_000051.4(ATM):c.1980G>T (p.Met660Ile) rs2080301342
NM_000051.4(ATM):c.1981G>A (p.Asp661Asn) rs1029931261
NM_000051.4(ATM):c.1981G>C (p.Asp661His) rs1029931261
NM_000051.4(ATM):c.1982A>C (p.Asp661Ala) rs1565390124
NM_000051.4(ATM):c.198A>T (p.Lys66Asn) rs540920248
NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)
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.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.2008G>A (p.Gly670Ser)
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp) rs887944555
NM_000051.4(ATM):c.2009G>T (p.Gly670Val) rs887944555
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.4(ATM):c.2011A>G (p.Ile671Val) rs730881344
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln) rs2080305905
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.2029A>G (p.Ser677Gly) rs568026188
NM_000051.4(ATM):c.2029A>T (p.Ser677Cys)
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) rs2080308052
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
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.2044G>C (p.Val682Leu)
NM_000051.4(ATM):c.2044G>T (p.Val682Phe) rs2135369797
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)
NM_000051.4(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.4(ATM):c.2052G>C (p.Gln684His) rs775890872
NM_000051.4(ATM):c.2054A>G (p.Asn685Ser) rs1412443702
NM_000051.4(ATM):c.2054A>T (p.Asn685Ile) rs1412443702
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.2059A>C (p.Lys687Gln) rs2135370162
NM_000051.4(ATM):c.205C>A (p.Gln69Lys) rs876660631
NM_000051.4(ATM):c.2060A>G (p.Lys687Arg) rs2080312441
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln) rs769338089
NM_000051.4(ATM):c.2064_2072del (p.Glu688_Leu690del) rs2135370232
NM_000051.4(ATM):c.2066C>T (p.Ser689Leu) rs1591534804
NM_000051.4(ATM):c.2068C>A (p.Leu690Met) rs1555073437
NM_000051.4(ATM):c.2069T>C (p.Leu690Pro) rs1555073438
NM_000051.4(ATM):c.206A>G (p.Gln69Arg)
NM_000051.4(ATM):c.2071G>C (p.Asp691His) rs762394404
NM_000051.4(ATM):c.2074C>G (p.Arg692Gly)
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe) rs2135370698
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg) rs879254178
NM_000051.4(ATM):c.2086G>C (p.Gly696Arg)
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu) rs752550257
NM_000051.4(ATM):c.2087G>T (p.Gly696Val) rs752550257
NM_000051.4(ATM):c.208A>G (p.Lys70Glu)
NM_000051.4(ATM):c.2092T>G (p.Ser698Ala) rs2135371120
NM_000051.4(ATM):c.2093C>T (p.Ser698Leu)
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
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.2102T>C (p.Leu701Pro)
NM_000051.4(ATM):c.2104C>G (p.Leu702Val) 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.2111A>G (p.Asn704Ser) rs753903558
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.2114A>G (p.Tyr705Cys)
NM_000051.4(ATM):c.2116T>A (p.Ser706Thr)
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala) rs536609092
NM_000051.4(ATM):c.2123A>G (p.Glu708Gly) rs2080318638
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2124+6A>G rs550998406
NM_000051.4(ATM):c.2125-5T>G rs2080471238
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.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.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.2135C>T (p.Ser712Leu) rs1057516620
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala) rs2080473704
NM_000051.4(ATM):c.2141C>A (p.Thr714Asn)
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser) rs1555074846
NM_000051.4(ATM):c.2143C>G (p.Leu715Val) rs758864982
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro) rs1555074855
NM_000051.4(ATM):c.2144T>G (p.Leu715Arg) rs1555074855
NM_000051.4(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.4(ATM):c.2147T>G (p.Val716Gly) rs864622294
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.2155T>C (p.Ser719Pro)
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu) rs2080475075
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2159G>C (p.Arg720Pro) rs55830714
NM_000051.4(ATM):c.215C>A (p.Thr72Lys) rs876658893
NM_000051.4(ATM):c.215C>G (p.Thr72Arg) rs876658893
NM_000051.4(ATM):c.2162T>C (p.Leu721Pro) rs2080475582
NM_000051.4(ATM):c.2162T>G (p.Leu721Arg) rs2080475582
NM_000051.4(ATM):c.2166G>C (p.Leu722Phe) rs1555074886
NM_000051.4(ATM):c.2167G>A (p.Val723Met)
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser) rs887317346
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.2179G>A (p.Gly727Ser) rs2080477463
NM_000051.4(ATM):c.217G>A (p.Glu73Lys) rs1555055119
NM_000051.4(ATM):c.2180G>A (p.Gly727Asp) rs1446080226
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.2192A>G (p.Tyr731Cys)
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)
NM_000051.4(ATM):c.2196G>A (p.Met732Ile) rs2135393803
NM_000051.4(ATM):c.2200G>A (p.Val734Ile) rs1390127104
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.2206G>A (p.Ala736Thr) rs2080480637
NM_000051.4(ATM):c.2207C>G (p.Ala736Gly)
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.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.2222A>C (p.Tyr741Ser) rs878853492
NM_000051.4(ATM):c.2222A>T (p.Tyr741Phe) rs878853492
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.2232A>T (p.Glu744Asp) rs2080482588
NM_000051.4(ATM):c.2243A>G (p.Lys748Arg)
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.2248A>G (p.Lys750Glu) rs2080484145
NM_000051.4(ATM):c.2250+3A>G rs2080484745
NM_000051.4(ATM):c.2250+5G>C rs1555075047
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn) rs1137887
NM_000051.4(ATM):c.2251-11A>C
NM_000051.4(ATM):c.2251-15T>A rs1565396892
NM_000051.4(ATM):c.2251-1_2257dup rs2080573042
NM_000051.4(ATM):c.2251-3T>C rs752951518
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr) rs1064793558
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro) rs2135405669
NM_000051.4(ATM):c.2257A>T (p.Met753Leu)
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg) rs1060501646
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.4(ATM):c.2267C>A (p.Ala756Glu)
NM_000051.4(ATM):c.2270G>T (p.Gly757Val) rs375091571
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.2285T>C (p.Leu762Pro) rs2080576437
NM_000051.4(ATM):c.228A>C (p.Arg76Ser) rs1591451698
NM_000051.4(ATM):c.2290A>C (p.Lys764Gln)
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg) rs2080576982
NM_000051.4(ATM):c.2294A>G (p.Asn765Ser)
NM_000051.4(ATM):c.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.2303A>G (p.Asn768Ser) rs2080577809
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.2308G>A (p.Glu770Lys) rs1555075721
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly) rs1565397219
NM_000051.4(ATM):c.2316A>C (p.Arg772Ser) rs2135407049
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu) rs876659084
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.4(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.4(ATM):c.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.2335A>G (p.Met779Val)
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.2345T>C (p.Leu782Pro) rs2135407647
NM_000051.4(ATM):c.2347T>G (p.Cys783Gly) rs1555075786
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile) rs2135407791
NM_000051.4(ATM):c.2354G>T (p.Arg785Leu) rs587782128
NM_000051.4(ATM):c.2356T>C (p.Cys786Arg) rs1565397441
NM_000051.4(ATM):c.2356T>G (p.Cys786Gly)
NM_000051.4(ATM):c.2357G>A (p.Cys786Tyr)
NM_000051.4(ATM):c.2360T>G (p.Leu787Trp) rs2135408030
NM_000051.4(ATM):c.2361G>T (p.Leu787Phe) rs2080584367
NM_000051.4(ATM):c.2362A>G (p.Ser788Gly) rs641252
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn) rs1555075809
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser) rs1591546766
NM_000051.4(ATM):c.2367C>G (p.Asn789Lys) rs2080585059
NM_000051.4(ATM):c.236A>G (p.Lys79Arg) rs1591451757
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile) rs2135408339
NM_000051.4(ATM):c.2376+4A>G
NM_000051.4(ATM):c.2376+5G>T
NM_000051.4(ATM):c.2376G>A (p.Lys792=) rs754267376
NM_000051.4(ATM):c.2377-350A>G
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln) rs587781583
NM_000051.4(ATM):c.2378A>G (p.Lys793Arg) rs2080692590
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg) rs876658149
NM_000051.4(ATM):c.2381G>C (p.Ser794Thr)
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg) rs1555076601
NM_000051.4(ATM):c.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.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2386A>G (p.Asn796Asp)
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser) rs1555076612
NM_000051.4(ATM):c.2390A>C (p.Lys797Thr) rs2135420825
NM_000051.4(ATM):c.2391G>T (p.Lys797Asn)
NM_000051.4(ATM):c.2395G>A (p.Ala799Thr) rs1591551217
NM_000051.4(ATM):c.2396_2407del (p.Ala799_Phe803delinsVal)
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.2401G>A (p.Gly801Ser) rs1565399865
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp) rs1591551289
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile) rs2080695065
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu) rs2080695332
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.4(ATM):c.2409C>G (p.Phe803Leu) rs1416444032
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly) rs780619951
NM_000051.4(ATM):c.2417T>G (p.Leu806Trp) rs1565399936
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile) rs2080697096
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2429A>T (p.Lys810Met) rs2080698039
NM_000051.4(ATM):c.242A>G (p.Asn81Ser) rs2135034894
NM_000051.4(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.4(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.4(ATM):c.2436G>T (p.Met812Ile)
NM_000051.4(ATM):c.2438A>G (p.Asn813Ser)
NM_000051.4(ATM):c.2439T>A (p.Asn813Lys)
NM_000051.4(ATM):c.2440G>A (p.Asp814Asn) rs2135421927
NM_000051.4(ATM):c.2441A>T (p.Asp814Val) rs1565400035
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2444T>C (p.Ile815Thr) rs2135422030
NM_000051.4(ATM):c.2444T>G (p.Ile815Ser)
NM_000051.4(ATM):c.2445T>G (p.Ile815Met) rs2080699276
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.4(ATM):c.2447C>G (p.Ala816Gly) rs1351798568
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn) rs587778067
NM_000051.4(ATM):c.2449G>T (p.Asp817Tyr) rs587778067
NM_000051.4(ATM):c.244G>A (p.Val82Ile) rs1412024666
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly) rs587779821
NM_000051.4(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.4(ATM):c.2452A>C (p.Ile818Leu) rs2080700458
NM_000051.4(ATM):c.2452A>G (p.Ile818Val) rs2080700458
NM_000051.4(ATM):c.2453T>C (p.Ile818Thr) rs1591551563
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr) rs1591551588
NM_000051.4(ATM):c.2458A>G (p.Lys820Glu) rs2080701196
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr) rs1555076748
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg) rs864622412
NM_000051.4(ATM):c.2466+10_2466+16del
NM_000051.4(ATM):c.2466+3A>C
NM_000051.4(ATM):c.2466+3A>G
NM_000051.4(ATM):c.2466+4A>C rs563482577
NM_000051.4(ATM):c.2466+4A>G rs563482577
NM_000051.4(ATM):c.2466+5G>A rs1064795969
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2466+6T>C rs2135422532
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.2471C>T (p.Ser824Phe) rs1555082060
NM_000051.4(ATM):c.2473T>G (p.Phe825Val) rs2081300268
NM_000051.4(ATM):c.2476A>G (p.Ile826Val) rs587782397
NM_000051.4(ATM):c.2478C>G (p.Ile826Met) rs1591587125
NM_000051.4(ATM):c.2483A>T (p.Lys828Met) rs2081301026
NM_000051.4(ATM):c.2484G>T (p.Lys828Asn)
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.2489T>C (p.Phe830Ser) rs773582901
NM_000051.4(ATM):c.248C>T (p.Ser83Leu)
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.2494C>A (p.Arg832Ser) rs2229022
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly) rs2229022
NM_000051.4(ATM):c.2495G>C (p.Arg832Pro) rs199875915
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2497G>A (p.Gly833Arg) rs876658804
NM_000051.4(ATM):c.24_26del (p.Leu9del)
NM_000051.4(ATM):c.24_29dup (p.Leu9_Ile10insMetLeu)
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu) rs879254208
NM_000051.4(ATM):c.2503G>T (p.Val835Leu) rs757151992
NM_000051.4(ATM):c.2504T>A (p.Val835Glu) rs765118015
NM_000051.4(ATM):c.2508A>T (p.Glu836Asp) rs2135506209
NM_000051.4(ATM):c.2510C>T (p.Ser837Leu)
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2514G>T (p.Met838Ile) rs2135506364
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln) rs1246807453
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala) rs1591587459
NM_000051.4(ATM):c.2516A>G (p.Glu839Gly)
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.4(ATM):c.2519A>G (p.Asp840Gly) rs786202605
NM_000051.4(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu) rs1591587498
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly) rs587781812
NM_000051.4(ATM):c.2522A>T (p.Asp841Val)
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.4(ATM):c.2530_2535del (p.Gly844_Asn845del) rs956305036
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala) rs587781808
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2534A>G (p.Asn845Ser) rs1060501591
NM_000051.4(ATM):c.2536C>G (p.Leu846Val) rs1555082186
NM_000051.4(ATM):c.2537T>C (p.Leu846Pro) rs2135507057
NM_000051.4(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.4(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.4(ATM):c.253T>C (p.Ser85Pro)
NM_000051.4(ATM):c.2540T>A (p.Met847Lys) rs1382712243
NM_000051.4(ATM):c.2540T>C (p.Met847Thr)
NM_000051.4(ATM):c.2541G>A (p.Met847Ile) rs864622131
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln) rs879254046
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly) rs1060501555
NM_000051.4(ATM):c.2544G>C (p.Glu848Asp) rs1060501601
NM_000051.4(ATM):c.2544G>T (p.Glu848Asp) rs1060501601
NM_000051.4(ATM):c.2545G>T (p.Val849Leu) rs1591587875
NM_000051.4(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.4(ATM):c.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.2555A>G (p.Gln852Arg) rs1265258461
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.2560T>C (p.Ser854Pro) rs1060501632
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.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.2567A>G (p.Asn856Ser) rs1555082253
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.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.257C>T (p.Thr86Ile) rs755326770
NM_000051.4(ATM):c.2581T>A (p.Tyr861Asn) rs1565416692
NM_000051.4(ATM):c.2581T>C (p.Tyr861His) rs1565416692
NM_000051.4(ATM):c.2582A>G (p.Tyr861Cys) rs2081309790
NM_000051.4(ATM):c.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.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.2590A>C (p.Ser864Arg) rs764842086
NM_000051.4(ATM):c.2590AGT[1] (p.Ser865del) rs863224823
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn) rs1555082306
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2594G>A (p.Ser865Asn) rs1591588450
NM_000051.4(ATM):c.2596G>A (p.Val866Ile) rs2135508700
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.2606C>A (p.Ala869Glu) rs145513717
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
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.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.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.4(ATM):c.2624G>T (p.Ser875Ile) rs2081312995
NM_000051.4(ATM):c.2625C>G (p.Ser875Arg) rs1591588785
NM_000051.4(ATM):c.2626C>G (p.Gln876Glu)
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly) rs2081313542
NM_000051.4(ATM):c.2631T>G (p.Ser877Arg)
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
NM_000051.4(ATM):c.2633C>T (p.Thr878Ile)
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.4(ATM):c.2638+5A>G rs2081314537
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.2639-4_2639-3del rs1555083075
NM_000051.4(ATM):c.2639-6T>G
NM_000051.4(ATM):c.2639-7T>G rs912886321
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala) rs2135522879
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.2650C>G (p.Pro884Ala) rs1591593623
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser) rs1591593623
NM_000051.4(ATM):c.2653T>G (p.Leu885Val)
NM_000051.4(ATM):c.2654T>C (p.Leu885Ser) rs1555083096
NM_000051.4(ATM):c.2656G>T (p.Ala886Ser) rs575762025
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.2668C>G (p.Leu890Val) rs937133424
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro) rs1411479824
NM_000051.4(ATM):c.2669T>G (p.Leu890Arg) rs1411479824
NM_000051.4(ATM):c.266C>T (p.Ser89Phe) rs375605135
NM_000051.4(ATM):c.2672C>T (p.Ser891Leu) rs876660780
NM_000051.4(ATM):c.2675A>C (p.Lys892Thr)
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn) rs1555083128
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg) rs876659776
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.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.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.2694A>T (p.Leu898Phe) rs774395596
NM_000051.4(ATM):c.2695G>C (p.Asp899His)
NM_000051.4(ATM):c.2696A>G (p.Asp899Gly) rs1555083190
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu) rs786202978
NM_000051.4(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.4(ATM):c.2700G>A (p.Met900Ile) rs1591593939
NM_000051.4(ATM):c.2701C>T (p.Leu901Phe) rs863224559
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu) rs2135524412
NM_000051.4(ATM):c.2708T>A (p.Phe903Tyr)
NM_000051.4(ATM):c.2708T>G (p.Phe903Cys) rs1555083208
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.2719T>C (p.Cys907Arg) rs2135524707
NM_000051.4(ATM):c.271C>G (p.Gln91Glu)
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr) rs775371838
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.2725A>T (p.Thr909Ser) rs786203175
NM_000051.4(ATM):c.2726C>T (p.Thr909Ile) rs1555083259
NM_000051.4(ATM):c.272A>C (p.Gln91Pro)
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser) rs1591594169
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu) rs764409952
NM_000051.4(ATM):c.2735A>T (p.Gln912Leu) rs730881353
NM_000051.4(ATM):c.2736G>C (p.Gln912His)
NM_000051.4(ATM):c.2737A>G (p.Thr913Ala) rs2135525084
NM_000051.4(ATM):c.2737A>T (p.Thr913Ser) rs2135525084
NM_000051.4(ATM):c.2738C>A (p.Thr913Asn) rs1266220962
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile) rs1266220962
NM_000051.4(ATM):c.2740A>G (p.Asn914Asp) rs1591594250
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.2746G>A (p.Val916Met) rs2081388106
NM_000051.4(ATM):c.2747T>C (p.Val916Ala)
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)
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.2752T>C (p.Phe918Leu) rs1060501549
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly) rs1591594384
NM_000051.4(ATM):c.2758G>A (p.Ala920Thr) rs1555083326
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
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.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.276_284dup (p.Lys93_Gln95dup) rs2078889184
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu) rs587782298
NM_000051.4(ATM):c.2775G>T (p.Arg925Ser) rs1591594506
NM_000051.4(ATM):c.277A>G (p.Lys93Glu) rs1555055234
NM_000051.4(ATM):c.2783T>C (p.Leu928Ser) rs2081392000
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.2791A>G (p.Ile931Val) rs1308253602
NM_000051.4(ATM):c.2795A>G (p.Asp932Gly) rs1060501623
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr) rs1060501698
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr) rs56087610
NM_000051.4(ATM):c.279G>C (p.Lys93Asn) rs368196317
NM_000051.4(ATM):c.2801G>C (p.Ser934Thr) rs1555083387
NM_000051.4(ATM):c.2802C>G (p.Ser934Arg) rs876659788
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro) rs35813135
NM_000051.4(ATM):c.2803A>G (p.Thr935Ala) rs35813135
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys) rs3218708
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2806C>G (p.Leu936Val) rs1422401186
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.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.2827C>T (p.His943Tyr) rs2135527318
NM_000051.4(ATM):c.2828A>C (p.His943Pro) rs2081396482
NM_000051.4(ATM):c.2828A>G (p.His943Arg)
NM_000051.4(ATM):c.282G>A (p.Met94Ile) rs2078889859
NM_000051.4(ATM):c.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+3del
NM_000051.4(ATM):c.2838+5G>A rs1555083472
NM_000051.4(ATM):c.2838+5G>T rs1555083472
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838+6T>G
NM_000051.4(ATM):c.2838G>T (p.Met946Ile) rs1317505466
NM_000051.4(ATM):c.2839-4_2839-3insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGC
NM_000051.4(ATM):c.283C>G (p.Gln95Glu) rs587781545
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.4(ATM):c.2842C>G (p.Leu948Val) 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.2845A>T (p.Met949Leu)
NM_000051.4(ATM):c.2847G>A (p.Met949Ile) rs1565424213
NM_000051.4(ATM):c.2847G>C (p.Met949Ile) rs1565424213
NM_000051.4(ATM):c.2848C>G (p.Leu950Val) rs763064034
NM_000051.4(ATM):c.2849T>A (p.Leu950His) rs786203054
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro) rs786203054
NM_000051.4(ATM):c.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.2857G>A (p.Glu953Lys) rs1591602248
NM_000051.4(ATM):c.2858A>C (p.Glu953Ala) rs2135547667
NM_000051.4(ATM):c.285G>C (p.Gln95His) rs1316615402
NM_000051.4(ATM):c.2860C>T (p.Leu954Phe) rs2081549194
NM_000051.4(ATM):c.2861T>A (p.Leu954His) rs1555084648
NM_000051.4(ATM):c.2861T>C (p.Leu954Pro)
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg) rs1555084648
NM_000051.4(ATM):c.2864C>A (p.Pro955His) rs1591602301
NM_000051.4(ATM):c.2870A>T (p.Glu957Val)
NM_000051.4(ATM):c.2876A>C (p.Tyr959Ser) rs1591602381
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.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.2893G>C (p.Asp965His) rs1064793035
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.289A>G (p.Ile97Val) rs1565347206
NM_000051.4(ATM):c.2900T>G (p.Leu967Arg)
NM_000051.4(ATM):c.2907_2909del (p.Leu970del) rs2135548669
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro) rs587782521
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser) rs2135548838
NM_000051.4(ATM):c.2917C>G (p.Leu973Val)
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.4(ATM):c.2920T>C (p.Ser974Pro)
NM_000051.4(ATM):c.2921+17T>G
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2921+3A>C rs2135549049
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.2922-3C>T rs750087017
NM_000051.4(ATM):c.2925T>A (p.Asn975Lys) 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.292A>T (p.Ser98Cys)
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe) rs876660628
NM_000051.4(ATM):c.2931T>G (p.Cys977Trp)
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)
NM_000051.4(ATM):c.2935T>G (p.Leu979Val)
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser) rs1565425094
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2941C>G (p.Arg981Gly) rs587780619
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)
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.2947G>A (p.Asp983Asn) rs1060501560
NM_000051.4(ATM):c.2947G>T (p.Asp983Tyr) rs1060501560
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu) rs2135552016
NM_000051.4(ATM):c.2951A>G (p.Gln984Arg) rs1239016428
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.2957T>C (p.Val986Ala) rs373225328
NM_000051.4(ATM):c.2959T>G (p.Cys987Gly) rs1305059653
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2961T>G (p.Cys987Trp)
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu) rs772327699
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala) rs1565425329
NM_000051.4(ATM):c.2966C>G (p.Thr989Ser)
NM_000051.4(ATM):c.296G>A (p.Ser99Asn) rs2078891183
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser) rs1227701474
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.2983C>G (p.Leu995Val) rs587779831
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>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.2991A>T (p.Val997=)
NM_000051.4(ATM):c.2993T>G (p.Val998Gly) rs2135553024
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.29T>C (p.Ile10Thr) rs2135004898
NM_000051.4(ATM):c.3000C>G (p.Asn1000Lys) rs2135553183
NM_000051.4(ATM):c.3004G>C (p.Gly1002Arg) rs1565425547
NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)
NM_000051.4(ATM):c.3007C>G (p.Gln1003Glu) rs1555085143
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.3016A>T (p.Met1006Leu)
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu) rs1591604426
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro) rs2135553747
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys) rs2135553767
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.4(ATM):c.302T>A (p.Val101Asp)
NM_000051.4(ATM):c.302T>C (p.Val101Ala)
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala) rs959314809
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys) rs1387785337
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg) rs1387785337
NM_000051.4(ATM):c.3035G>A (p.Arg1012Lys) rs1565425752
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr) rs2135554187
NM_000051.4(ATM):c.3041C>A (p.Ala1014Asp)
NM_000051.4(ATM):c.3041C>T (p.Ala1014Val)
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.3045A>C (p.Gln1015His) rs1064796404
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val) rs1565425832
NM_000051.4(ATM):c.3050A>G (p.Gln1017Arg)
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val) rs863224560
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys) rs186626274
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.305A>G (p.Lys102Arg)
NM_000051.4(ATM):c.305A>T (p.Lys102Ile) rs1555055293
NM_000051.4(ATM):c.3060A>G (p.Thr1020=) rs1591604737
NM_000051.4(ATM):c.3061G>T (p.Val1021Leu)
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val) rs786202470
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg) rs730882129
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.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.3076T>C (p.Trp1026Arg) rs2135555027
NM_000051.4(ATM):c.3077+12C>A
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+9A>G
NM_000051.4(ATM):c.3077G>C (p.Trp1026Ser) rs587782103
NM_000051.4(ATM):c.3078-10T>G rs2135564722
NM_000051.4(ATM):c.3078-5T>C rs1565427457
NM_000051.4(ATM):c.3078-5T>G rs1565427457
NM_000051.4(ATM):c.3078-9T>G rs2081637337
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.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.3085A>T (p.Thr1029Ser) rs730881355
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.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys) rs2081639925
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.3105A>G (p.Ile1035Met) rs1565427678
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)
NM_000051.4(ATM):c.3109T>C (p.Ser1037Pro) rs2135565790
NM_000051.4(ATM):c.310T>C (p.Phe104Leu) rs1555055306
NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)
NM_000051.4(ATM):c.3112G>A (p.Val1038Ile) rs876659877
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu) rs876659877
NM_000051.4(ATM):c.3113T>G (p.Val1038Gly)
NM_000051.4(ATM):c.3116G>T (p.Arg1039Ile)
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.3127G>A (p.Val1043Ile)
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser) rs1565427876
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe) rs1591608576
NM_000051.4(ATM):c.3137T>G (p.Leu1046Arg)
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
NM_000051.4(ATM):c.3149T>C (p.Leu1050Pro) rs1555085890
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.4(ATM):c.314T>A (p.Ile105Asn)
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.4(ATM):c.3152A>G (p.Glu1051Gly) rs876659217
NM_000051.4(ATM):c.3153+3G>A rs1565428067
NM_000051.4(ATM):c.3153+3G>T rs1565428067
NM_000051.4(ATM):c.3153+4A>G rs1060501620
NM_000051.4(ATM):c.3153+4A>T rs1060501620
NM_000051.4(ATM):c.3153+5G>A rs1591608756
NM_000051.4(ATM):c.3153+5G>T
NM_000051.4(ATM):c.3153+6T>C
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro) rs1064793036
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly) rs876660350
NM_000051.4(ATM):c.3158A>G (p.Asp1053Gly)
NM_000051.4(ATM):c.3158A>T (p.Asp1053Val) rs2081657910
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser)
NM_000051.4(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.4(ATM):c.3170A>C (p.Lys1057Thr)
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.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.3185A>C (p.Asn1062Thr)
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.318A>C (p.Lys106Asn) rs1555055319
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile) rs1480804197
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val) rs762810180
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.4(ATM):c.3197A>C (p.Lys1066Thr) rs926564671
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg) rs926564671
NM_000051.4(ATM):c.3198A>C (p.Lys1066Asn) rs1591609637
NM_000051.4(ATM):c.3198A>T (p.Lys1066Asn) rs1591609637
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr) rs766342338
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.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.3205C>G (p.Pro1069Ala)
NM_000051.4(ATM):c.3206C>T (p.Pro1069Leu)
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile) rs587780620
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu) rs2135571268
NM_000051.4(ATM):c.3217G>A (p.Val1073Ile) rs2135571488
NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile) rs756568555
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu) rs1555086111
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.3238G>A (p.Asp1080Asn)
NM_000051.4(ATM):c.3238_3240del (p.Asp1080del) rs2135572079
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly) rs757617016
NM_000051.4(ATM):c.3239A>T (p.Asp1080Val) rs757617016
NM_000051.4(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.4(ATM):c.323C>T (p.Ala108Val)
NM_000051.4(ATM):c.3241A>C (p.Asn1081His) rs2081666605
NM_000051.4(ATM):c.3241A>G (p.Asn1081Asp) rs2081666605
NM_000051.4(ATM):c.3244C>G (p.His1082Asp) rs1302626569
NM_000051.4(ATM):c.3245A>C (p.His1082Pro)
NM_000051.4(ATM):c.3245A>G (p.His1082Arg) rs1009749513
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.3251A>G (p.Gln1084Arg) rs2081668405
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.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.3260T>C (p.Met1087Thr) rs1460583900
NM_000051.4(ATM):c.3265G>C (p.Ala1089Pro) rs730881358
NM_000051.4(ATM):c.3266C>T (p.Ala1089Val) rs2135572925
NM_000051.4(ATM):c.3269C>T (p.Ala1090Val) rs1591610246
NM_000051.4(ATM):c.326A>G (p.Asn109Ser) rs2078893700
NM_000051.4(ATM):c.3271G>A (p.Glu1091Lys) rs2135573046
NM_000051.4(ATM):c.3273_3284+42dup rs2081670756
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu) rs774197372
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.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.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.3285-2896_3285-2893del
NM_000051.4(ATM):c.3285-8G>C rs1469259085
NM_000051.4(ATM):c.3285A>G (p.Arg1095=)
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser) rs2082114508
NM_000051.4(ATM):c.328A>G (p.Arg110Gly) rs2078893781
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu) rs773964990
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3296A>G (p.Asp1099Gly) rs587778072
NM_000051.4(ATM):c.3296A>T (p.Asp1099Val) rs587778072
NM_000051.4(ATM):c.3297C>G (p.Asp1099Glu)
NM_000051.4(ATM):c.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.3302A>C (p.Lys1101Thr)
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg) rs147557621
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn) rs1555090114
NM_000051.4(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala) rs1555090118
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly) rs1555090118
NM_000051.4(ATM):c.3308A>T (p.Asp1103Val) rs1555090118
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu) rs764102178
NM_000051.4(ATM):c.330A>C (p.Arg110Ser) rs1555055350
NM_000051.4(ATM):c.331+3A>C rs2078894221
NM_000051.4(ATM):c.331+3A>T
NM_000051.4(ATM):c.331+4A>G
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys) rs1555090126
NM_000051.4(ATM):c.3314C>A (p.Ser1105Tyr) rs141999815
NM_000051.4(ATM):c.3314C>G (p.Ser1105Cys)
NM_000051.4(ATM):c.3316A>G (p.Arg1106Gly)
NM_000051.4(ATM):c.3317G>A (p.Arg1106Lys)
NM_000051.4(ATM):c.332-1009A>T
NM_000051.4(ATM):c.332-4A>G
NM_000051.4(ATM):c.332-8T>A rs2079233073
NM_000051.4(ATM):c.3321A>T (p.Leu1107Phe) rs2135643264
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro) rs2082117640
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val) rs1479434069
NM_000051.4(ATM):c.3331C>T (p.Leu1111Phe)
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala) rs876658963
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser) rs876658963
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met) rs1022672642
NM_000051.4(ATM):c.3338T>C (p.Leu1113Ser) rs1591632166
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu) rs1049900772
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe) rs752339681
NM_000051.4(ATM):c.3347A>C (p.Gln1116Pro) rs1555090213
NM_000051.4(ATM):c.3347A>T (p.Gln1116Leu)
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.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3355G>T (p.Ala1119Ser) rs786201956
NM_000051.4(ATM):c.3356C>A (p.Ala1119Asp) rs778882461
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val) rs778882461
NM_000051.4(ATM):c.335C>A (p.Ala112Glu) rs1591474358
NM_000051.4(ATM):c.335C>T (p.Ala112Val) rs1591474358
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu) rs2082121277
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly) rs876660607
NM_000051.4(ATM):c.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.3370T>C (p.Tyr1124His) rs2082121841
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys) rs876660498
NM_000051.4(ATM):c.3373T>G (p.Leu1125Val) rs775277598
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu) rs1310591343
NM_000051.4(ATM):c.3380C>A (p.Ala1127Asp) rs1555090340
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu) rs876659825
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys) rs876658463
NM_000051.4(ATM):c.3389G>C (p.Gly1130Ala) rs1060501544
NM_000051.4(ATM):c.3389G>T (p.Gly1130Val)
NM_000051.4(ATM):c.338C>T (p.Pro113Leu) rs876658324
NM_000051.4(ATM):c.3392T>C (p.Met1131Thr) rs2082123790
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile) rs1565439576
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.3395G>A (p.Arg1132Lys) rs2135645575
NM_000051.4(ATM):c.3396A>T (p.Arg1132Ser)
NM_000051.4(ATM):c.3398A>C (p.Glu1133Ala)
NM_000051.4(ATM):c.3398A>G (p.Glu1133Gly) rs1565439583
NM_000051.4(ATM):c.3399A>C (p.Glu1133Asp) rs1555090364
NM_000051.4(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.4(ATM):c.3400A>C (p.Met1134Leu) rs1591632583
NM_000051.4(ATM):c.3400A>G (p.Met1134Val) rs1591632583
NM_000051.4(ATM):c.3402+17T>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.3404C>A (p.Ser1135Tyr) rs2082202102
NM_000051.4(ATM):c.3408T>G (p.His1136Gln) rs1565441369
NM_000051.4(ATM):c.3409A>G (p.Ser1137Gly)
NM_000051.4(ATM):c.340A>G (p.Arg114Gly) rs927409082
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys) rs786203048
NM_000051.4(ATM):c.3417G>C (p.Glu1139Asp) rs879254069
NM_000051.4(ATM):c.3419A>G (p.Asn1140Ser)
NM_000051.4(ATM):c.3421C>G (p.Pro1141Ala)
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.342G>C (p.Arg114Ser) rs1555059036
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser) rs879253949
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.3436G>A (p.Glu1146Lys) 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.3445A>G (p.Asn1149Asp)
NM_000051.4(ATM):c.3447T>G (p.Asn1149Lys)
NM_000051.4(ATM):c.3449G>A (p.Arg1150Lys) rs555219189
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln)
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>G (p.Ser1152Cys) rs775045299
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.3461T>C (p.Leu1154Ser) rs2135666960
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>C (p.Leu1157Ser) rs2135667225
NM_000051.4(ATM):c.3472A>T (p.Ile1158Leu)
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser) rs2135667356
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)
NM_000051.4(ATM):c.3479T>G (p.Val1160Gly) rs12788427
NM_000051.4(ATM):c.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.3490T>G (p.Cys1164Gly) rs2135667927
NM_000051.4(ATM):c.3491G>A (p.Cys1164Tyr) rs2082208412
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly) rs1351059730
NM_000051.4(ATM):c.3493A>T (p.Ser1165Cys) rs1351059730
NM_000051.4(ATM):c.3494G>A (p.Ser1165Asn)
NM_000051.4(ATM):c.3494G>T (p.Ser1165Ile) rs2082208653
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg) rs878853505
NM_000051.4(ATM):c.3496C>T (p.Pro1166Ser) rs867360777
NM_000051.4(ATM):c.3497C>G (p.Pro1166Arg)
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.4(ATM):c.34T>C (p.Cys12Arg) rs1060501597
NM_000051.4(ATM):c.3507A>T (p.Glu1169Asp) rs1555091291
NM_000051.4(ATM):c.3509A>C (p.Lys1170Thr) rs1591636761
NM_000051.4(ATM):c.3509A>T (p.Lys1170Ile)
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr) rs1555059066
NM_000051.4(ATM):c.350G>T (p.Cys117Phe) rs1555059066
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu) rs876659067
NM_000051.4(ATM):c.3512A>G (p.Gln1171Arg)
NM_000051.4(ATM):c.3513G>C (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3513G>T (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val) rs2082210652
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val) rs141460670
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3519G>T (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3521T>A (p.Phe1174Tyr) rs1416574870
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro) rs587782762
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg) rs2135669298
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln) rs1555091359
NM_000051.4(ATM):c.3533A>G (p.Lys1178Arg) rs1565442144
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro) rs2135669484
NM_000051.4(ATM):c.3538G>A (p.Val1180Met) rs1060501531
NM_000051.4(ATM):c.353A>G (p.Gln118Arg) rs1555059070
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp) rs773290999
NM_000051.4(ATM):c.3551G>A (p.Gly1184Glu) rs2135669947
NM_000051.4(ATM):c.3552A>T (p.Gly1184=)
NM_000051.4(ATM):c.3557A>T (p.Glu1186Val) rs2082213706
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3558A>T (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3559C>T (p.Pro1187Ser) rs2082213794
NM_000051.4(ATM):c.3562C>T (p.His1188Tyr) rs2082213882
NM_000051.4(ATM):c.3563A>C (p.His1188Pro) rs12786960
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)
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+3A>G rs2082214908
NM_000051.4(ATM):c.3576+4T>C rs1591637164
NM_000051.4(ATM):c.3577-3C>A rs876659700
NM_000051.4(ATM):c.3577-3C>G rs876659700
NM_000051.4(ATM):c.3577-7C>A rs558667657
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala) rs1591640918
NM_000051.4(ATM):c.3581T>C (p.Leu1194Ser) rs2082294481
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.3586A>G (p.Lys1196Glu) rs2135686751
NM_000051.4(ATM):c.3587A>T (p.Lys1196Ile)
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala) rs1555092259
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro) rs1555092260
NM_000051.4(ATM):c.3593C>G (p.Ser1198Cys)
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe) rs2135686922
NM_000051.4(ATM):c.3596A>C (p.Glu1199Ala)
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
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.3601T>G (p.Phe1201Val) rs576884305
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser) rs1565444496
NM_000051.4(ATM):c.3604G>C (p.Gly1202Arg)
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.4(ATM):c.3605G>T (p.Gly1202Val) rs1555092285
NM_000051.4(ATM):c.3610A>G (p.Arg1204Gly) rs2135687439
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser) rs1555092317
NM_000051.4(ATM):c.3618A>C (p.Leu1206Phe) rs786201151
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln) rs772724024
NM_000051.4(ATM):c.3620A>G (p.Glu1207Gly) rs1555092330
NM_000051.4(ATM):c.3622G>A (p.Asp1208Asn)
NM_000051.4(ATM):c.3623A>G (p.Asp1208Gly) rs2135687915
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)
NM_000051.4(ATM):c.3625T>G (p.Phe1209Val)
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.3631G>A (p.Ala1211Thr) rs745467552
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)
NM_000051.4(ATM):c.3639T>G (p.His1213Gln) rs142766756
NM_000051.4(ATM):c.3640T>G (p.Leu1214Val) rs2082299514
NM_000051.4(ATM):c.3643G>C (p.Asp1215His) rs1366216756
NM_000051.4(ATM):c.3646T>G (p.Tyr1216Asp)
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys) rs1565444784
NM_000051.4(ATM):c.364A>G (p.Asn122Asp) rs2079236749
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln) rs1555092405
NM_000051.4(ATM):c.3650T>C (p.Leu1217Pro) rs1555092405
NM_000051.4(ATM):c.3652G>T (p.Val1218Phe) rs2082300484
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.3661T>C (p.Trp1221Arg) rs1565444832
NM_000051.4(ATM):c.3662G>C (p.Trp1221Ser)
NM_000051.4(ATM):c.3663G>T (p.Trp1221Cys) rs864622490
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.4(ATM):c.3665T>G (p.Leu1222Arg) rs863224563
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.3674A>G (p.Gln1225Arg) rs2135689501
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.4(ATM):c.3676G>A (p.Asp1226Asn)
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly) rs1555092445
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.4(ATM):c.3680C>A (p.Thr1227Asn) rs1229454563
NM_000051.4(ATM):c.3680C>G (p.Thr1227Ser)
NM_000051.4(ATM):c.3682G>A (p.Glu1228Lys) rs1334793787
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys) rs1591641518
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.3690C>G (p.Asn1230Lys) rs1555092475
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.3698C>T (p.Ser1233Phe)
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.3707T>C (p.Phe1236Ser) rs2082306350
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.4(ATM):c.3713T>C (p.Leu1238Ser)
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)
NM_000051.4(ATM):c.371T>C (p.Ile124Thr) rs1555059132
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del) rs1555092538
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys) rs587782688
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala) rs1591641743
NM_000051.4(ATM):c.3725C>A (p.Thr1242Lys) rs1266811647
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg) rs1266811647
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile) rs730881363
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val) rs2135690906
NM_000051.4(ATM):c.3731T>C (p.Ile1244Thr) rs1159658224
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile) rs886506379
NM_000051.4(ATM):c.3741C>G (p.Phe1247Leu)
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.3746+3A>C
NM_000051.4(ATM):c.3746+3A>G rs2135691310
NM_000051.4(ATM):c.3746+4A>C rs1555092593
NM_000051.4(ATM):c.3746+4A>G rs1555092593
NM_000051.4(ATM):c.3746G>A (p.Arg1249Lys)
NM_000051.4(ATM):c.3746G>C (p.Arg1249Thr)
NM_000051.4(ATM):c.3747-7T>G rs1057523136
NM_000051.4(ATM):c.3747A>C (p.Arg1249Ser)
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro) rs1555093268
NM_000051.4(ATM):c.3749C>A (p.Ser1250Tyr) rs1555093273
NM_000051.4(ATM):c.3749C>T (p.Ser1250Phe)
NM_000051.4(ATM):c.374T>C (p.Met125Thr) rs2079237952
NM_000051.4(ATM):c.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.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.3758A>C (p.Lys1253Thr)
NM_000051.4(ATM):c.375G>T (p.Met125Ile)
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile) rs753717865
NM_000051.4(ATM):c.3764T>C (p.Leu1255Ser) rs2082374257
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe) rs1030517820
NM_000051.4(ATM):c.3767T>G (p.Ile1256Ser)
NM_000051.4(ATM):c.3769C>G (p.Pro1257Ala) rs1565447002
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr) rs2079238248
NM_000051.4(ATM):c.3770C>A (p.Pro1257Gln)
NM_000051.4(ATM):c.3770C>T (p.Pro1257Leu) rs758405529
NM_000051.4(ATM):c.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.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.377A>C (p.Asp126Ala)
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly) 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.3787A>G (p.Ser1263Gly) rs1276194109
NM_000051.4(ATM):c.3788G>T (p.Ser1263Ile) rs2082376058
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.3793T>G (p.Phe1265Val) rs371526361
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser) rs1565447114
NM_000051.4(ATM):c.3795T>G (p.Phe1265Leu)
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn) rs2135705400
NM_000051.4(ATM):c.3796G>C (p.Asp1266His) rs2135705400
NM_000051.4(ATM):c.379A>G (p.Thr127Ala) rs587781741
NM_000051.4(ATM):c.37C>A (p.Arg13Ser) rs141586345
NM_000051.4(ATM):c.37C>G (p.Arg13Gly) rs141586345
NM_000051.4(ATM):c.3800A>T (p.Glu1267Val) rs781357995
NM_000051.4(ATM):c.3803T>C (p.Val1268Ala) rs1269513731
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.3814G>A (p.Ala1272Thr) rs1555093420
NM_000051.4(ATM):c.3815C>A (p.Ala1272Asp) rs2082377659
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.3827A>C (p.Gln1276Pro) rs770183693
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln) rs1591645689
NM_000051.4(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.4(ATM):c.382G>C (p.Val128Leu) rs587779835
NM_000051.4(ATM):c.382G>T (p.Val128Leu)
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly) rs1555093463
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.3835T>C (p.Trp1279Arg)
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg) rs2082379727
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
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.3844C>A (p.Leu1282Ile) rs876660568
NM_000051.4(ATM):c.3844C>G (p.Leu1282Val) rs876660568
NM_000051.4(ATM):c.3850A>G (p.Thr1284Ala) rs879175186
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg) rs1200767902
NM_000051.4(ATM):c.3853_3854delinsAT (p.Asp1285Ile)
NM_000051.4(ATM):c.3854A>G (p.Asp1285Gly) rs2082381245
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser) rs876660770
NM_000051.4(ATM):c.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.3866A>G (p.Lys1289Arg) rs876660633
NM_000051.4(ATM):c.3868A>C (p.Ile1290Leu)
NM_000051.4(ATM):c.3868A>T (p.Ile1290Phe) rs2082381917
NM_000051.4(ATM):c.3869T>G (p.Ile1290Ser)
NM_000051.4(ATM):c.386A>G (p.Lys129Arg) rs2135122598
NM_000051.4(ATM):c.3871C>G (p.Leu1291Val) rs2135707210
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3872T>G (p.Leu1291Arg) rs1555093536
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu) rs878853506
NM_000051.4(ATM):c.3877A>C (p.Asn1293His) rs2135707323
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser) rs2082382534
NM_000051.4(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup) rs1591645970
NM_000051.4(ATM):c.3880A>G (p.Ile1294Val) rs1478504213
NM_000051.4(ATM):c.3883C>G (p.Leu1295Val) rs1388457632
NM_000051.4(ATM):c.3884T>C (p.Leu1295Pro) rs2082382999
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3890A>G (p.Tyr1297Cys) rs1591646047
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val) rs786203287
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.3903G>C (p.Glu1301Asp) rs2082384273
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser) rs2135707999
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val) rs761673223
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala) rs1060501662
NM_000051.4(ATM):c.3908C>A (p.Thr1303Asn)
NM_000051.4(ATM):c.390T>A (p.Asp130Glu) rs1565356801
NM_000051.4(ATM):c.390T>G (p.Asp130Glu) rs1565356801
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly) rs1565447611
NM_000051.4(ATM):c.3917G>A (p.Ser1306Asn)
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu) rs2082385270
NM_000051.4(ATM):c.3923T>C (p.Met1308Thr) rs1555093651
NM_000051.4(ATM):c.3925G>C (p.Ala1309Pro) rs149711770
NM_000051.4(ATM):c.3929A>G (p.Gln1310Arg)
NM_000051.4(ATM):c.392C>T (p.Ser131Leu)
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro) rs2135708785
NM_000051.4(ATM):c.3932A>G (p.Gln1311Arg)
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln) rs3092841
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly) rs1555093695
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile) rs751678973
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser) rs1064794757
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.3949A>C (p.Lys1317Gln) rs2082387020
NM_000051.4(ATM):c.394T>C (p.Ser132Pro) rs786203851
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.3961A>G (p.Met1321Val) rs730881366
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr) rs928038643
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.3965T>A (p.Leu1322His) rs786203306
NM_000051.4(ATM):c.3965T>G (p.Leu1322Arg) rs786203306
NM_000051.4(ATM):c.3968A>G (p.Lys1323Arg) rs1295515377
NM_000051.4(ATM):c.3970A>C (p.Ser1324Arg) rs2082388757
NM_000051.4(ATM):c.3971G>A (p.Ser1324Asn)
NM_000051.4(ATM):c.3976A>G (p.Asn1326Asp)
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser) rs878853507
NM_000051.4(ATM):c.397A>G (p.Asn133Asp) rs1565356855
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3984G>C (p.Leu1328Phe)
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.3993+16T>G rs2135710569
NM_000051.4(ATM):c.3993+19T>G
NM_000051.4(ATM):c.3993+5G>A rs3092842
NM_000051.4(ATM):c.3993+6G>A rs878853508
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.3994-3C>A rs1060501681
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu) rs1064793534
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met) rs1180449859
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn) rs1591655512
NM_000051.4(ATM):c.3998A>G (p.Asp1333Gly)
NM_000051.4(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)
NM_000051.4(ATM):c.4003T>G (p.Leu1335Val) rs863224568
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
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.4013G>A (p.Ser1338Asn) rs1302951937
NM_000051.4(ATM):c.4017T>G (p.Asn1339Lys) rs863224569
NM_000051.4(ATM):c.401G>T (p.Gly134Val) rs771166271
NM_000051.4(ATM):c.4020A>C (p.Leu1340Phe)
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu) rs1565452575
NM_000051.4(ATM):c.4033G>A (p.Val1345Met) rs1216931701
NM_000051.4(ATM):c.4034T>C (p.Val1345Ala)
NM_000051.4(ATM):c.4038G>T (p.Glu1346Asp)
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.403G>T (p.Ala135Ser) rs1272089657
NM_000051.4(ATM):c.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.4054C>T (p.His1352Tyr) rs1591655903
NM_000051.4(ATM):c.4055A>T (p.His1352Leu) rs925124248
NM_000051.4(ATM):c.4057G>A (p.Glu1353Lys) rs2135736601
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.4(ATM):c.4060C>T (p.Pro1354Ser)
NM_000051.4(ATM):c.4061C>A (p.Pro1354Gln) rs1565452743
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.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.4078A>G (p.Ser1360Gly) rs761123780
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys) rs761123780
NM_000051.4(ATM):c.4080T>G (p.Ser1360Arg) rs2135737207
NM_000051.4(ATM):c.4083G>T (p.Gln1361His) rs863224570
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly) rs1565452907
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.4(ATM):c.4088C>G (p.Thr1363Ser) rs1555096040
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.4093C>A (p.Leu1365Ile)
NM_000051.4(ATM):c.4093C>T (p.Leu1365Phe) rs1423720712
NM_000051.4(ATM):c.4094T>C (p.Leu1365Pro)
NM_000051.4(ATM):c.409T>G (p.Tyr137Asp) rs786204177
NM_000051.4(ATM):c.4100A>G (p.Asp1367Gly)
NM_000051.4(ATM):c.4101C>G (p.Asp1367Glu)
NM_000051.4(ATM):c.4104T>A (p.Phe1368Leu) rs569614591
NM_000051.4(ATM):c.4109+14_4109+15insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGCGTACATTTTA rs2135738255
NM_000051.4(ATM):c.4109+16A>G rs2135738603
NM_000051.4(ATM):c.4109+3A>G rs1388807238
NM_000051.4(ATM):c.4109+4T>G rs754706599
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4109+6T>G rs368606937
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe) rs547082881
NM_000051.4(ATM):c.4110-10A>G rs2082636753
NM_000051.4(ATM):c.4110-3T>C
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4110G>C (p.Gly1370=) rs2082638172
NM_000051.4(ATM):c.4111G>T (p.Asp1371Tyr)
NM_000051.4(ATM):c.4112A>G (p.Asp1371Gly)
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val) rs762242838
NM_000051.4(ATM):c.4117G>T (p.Asp1373Tyr)
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr) rs2135750720
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.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.4132C>A (p.Pro1378Thr) rs1555096817
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala) rs1555096817
NM_000051.4(ATM):c.4135C>A (p.Pro1379Thr) rs1555096828
NM_000051.4(ATM):c.4136C>T (p.Pro1379Leu)
NM_000051.4(ATM):c.4139A>G (p.His1380Arg) rs2082640431
NM_000051.4(ATM):c.413G>C (p.Gly138Ala) rs2135123439
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu) rs1555096841
NM_000051.4(ATM):c.4142T>C (p.Phe1381Ser)
NM_000051.4(ATM):c.4143T>G (p.Phe1381Leu) rs2082640762
NM_000051.4(ATM):c.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.4158T>G (p.Ile1386Met) rs879254026
NM_000051.4(ATM):c.415G>T (p.Ala139Ser) rs1555059288
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr) rs1555096903
NM_000051.4(ATM):c.4162G>C (p.Ala1388Pro) rs1555096903
NM_000051.4(ATM):c.4162G>T (p.Ala1388Ser) rs1555096903
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly) rs1555096908
NM_000051.4(ATM):c.4165A>G (p.Thr1389Ala) rs1591660534
NM_000051.4(ATM):c.4166C>T (p.Thr1389Ile) rs2082642834
NM_000051.4(ATM):c.4166_4210del (p.Thr1389_Ser1403del) rs2135752050
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr) rs2135752151
NM_000051.4(ATM):c.4172C>A (p.Ala1391Asp) rs1591660560
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val) rs1591660560
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys) rs876658239
NM_000051.4(ATM):c.4175A>T (p.Tyr1392Phe) rs876658239
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu) rs1565455097
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
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.41A>G (p.Gln14Arg) rs749776879
NM_000051.4(ATM):c.4204A>C (p.Lys1402Gln)
NM_000051.4(ATM):c.4206A>C (p.Lys1402Asn) rs2135753163
NM_000051.4(ATM):c.4208G>C (p.Ser1403Thr)
NM_000051.4(ATM):c.4209C>A (p.Ser1403Arg) rs876658701
NM_000051.4(ATM):c.420T>A (p.Asp140Glu) rs1591475108
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val) rs1382006540
NM_000051.4(ATM):c.421T>C (p.Cys141Arg)
NM_000051.4(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe) rs1565455224
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg) rs2082647905
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr) rs745890227
NM_000051.4(ATM):c.4232G>C (p.Ser1411Thr) rs2135753735
NM_000051.4(ATM):c.4234C>T (p.Pro1412Ser) rs1591660899
NM_000051.4(ATM):c.4236+2_4236+3insCT rs1185729358
NM_000051.4(ATM):c.4236+5G>A rs1441281768
NM_000051.4(ATM):c.4236T>G (p.Pro1412=) rs1326629661
NM_000051.4(ATM):c.4237-7_4237-5del
NM_000051.4(ATM):c.4237-8T>G rs750427647
NM_000051.4(ATM):c.4237-9_4237-7del rs1555097355
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr) rs1337392659
NM_000051.4(ATM):c.4238A>T (p.Asp1413Val)
NM_000051.4(ATM):c.4240T>C (p.Ser1414Pro)
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.4(ATM):c.4255C>A (p.Leu1419Ile)
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del) rs876659842
NM_000051.4(ATM):c.4258C>G (p.Leu1420Val)
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr) rs1555097395
NM_000051.4(ATM):c.4262C>T (p.Ala1421Val)
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.4274A>G (p.Gln1425Arg) rs2082671727
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.4282G>A (p.Glu1428Lys) rs1369272813
NM_000051.4(ATM):c.428A>G (p.Asn143Ser) rs1565357066
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.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.4301A>G (p.Lys1434Arg)
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.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.4(ATM):c.430A>G (p.Ile144Val) rs1555059323
NM_000051.4(ATM):c.4310G>C (p.Arg1437Thr)
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
NM_000051.4(ATM):c.4316T>A (p.Leu1439His) rs1591663032
NM_000051.4(ATM):c.4316T>C (p.Leu1439Pro) rs1591663032
NM_000051.4(ATM):c.431T>G (p.Ile144Arg) rs2135124131
NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn) rs2082675235
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr) rs1469317936
NM_000051.4(ATM):c.4322T>G (p.Ile1441Arg)
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys) rs1565456320
NM_000051.4(ATM):c.4325A>T (p.Tyr1442Phe)
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr) rs1555097538
NM_000051.4(ATM):c.4328A>C (p.His1443Pro)
NM_000051.4(ATM):c.432ACT[3] (p.Leu146dup) rs2135124161
NM_000051.4(ATM):c.4330C>G (p.Leu1444Val)
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.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.4(ATM):c.4334T>C (p.Phe1445Ser)
NM_000051.4(ATM):c.4335T>G (p.Phe1445Leu)
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.4339A>C (p.Ser1447Arg)
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg) rs1565456454
NM_000051.4(ATM):c.4342TTA[3] (p.Leu1450_Lys1451insLeu)
NM_000051.4(ATM):c.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.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.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.4359A>G (p.Ile1453Met) rs1213190389
NM_000051.4(ATM):c.4360A>G (p.Lys1454Glu)
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.4(ATM):c.4364G>C (p.Ser1455Thr) rs2082679943
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.436C>T (p.Leu146Phe) rs2135124363
NM_000051.4(ATM):c.4372G>A (p.Gly1458Arg) rs2135764207
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser) rs1060501675
NM_000051.4(ATM):c.4379C>G (p.Ala1460Gly) rs376165779
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val) rs376165779
NM_000051.4(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn) rs1555059356
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg) rs982008501
NM_000051.4(ATM):c.4387T>C (p.Phe1463Leu)
NM_000051.4(ATM):c.4391T>A (p.Val1464Asp) rs2082682300
NM_000051.4(ATM):c.4391T>C (p.Val1464Ala) rs2082682300
NM_000051.4(ATM):c.4391TTC[1] (p.Leu1465del) rs2082682405
NM_000051.4(ATM):c.4394T>A (p.Leu1465His) rs730881391
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.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.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.4400_4405dup (p.Val1468_Ile1469insAsnVal) rs2082683548
NM_000051.4(ATM):c.4408T>G (p.Tyr1470Asp)
NM_000051.4(ATM):c.4409A>G (p.Tyr1470Cys) rs1591663898
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4415T>C (p.Leu1472Ser) rs772555314
NM_000051.4(ATM):c.4416G>T (p.Leu1472Phe)
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met) rs2082685196
NM_000051.4(ATM):c.4420C>A (p.His1474Asn) rs587779840
NM_000051.4(ATM):c.4421A>G (p.His1474Arg) rs2082685461
NM_000051.4(ATM):c.4422C>G (p.His1474Gln)
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val) rs1565457035
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met) rs876659370
NM_000051.4(ATM):c.442G>C (p.Asp148His) rs2135124628
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg) rs2082686442
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu) rs2082686442
NM_000051.4(ATM):c.4435A>G (p.Arg1479Gly) rs2082686702
NM_000051.4(ATM):c.4436+3A>G rs2082686950
NM_000051.4(ATM):c.4436+3A>T rs2082686950
NM_000051.4(ATM):c.4436+6T>C rs2082687309
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys) rs2135767002
NM_000051.4(ATM):c.4437-8T>G rs765929660
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser) rs2082856332
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del) rs786202338
NM_000051.4(ATM):c.443A>G (p.Asp148Gly)
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro) rs2135797205
NM_000051.4(ATM):c.4445G>T (p.Cys1482Phe)
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe) rs1281685502
NM_000051.4(ATM):c.4450A>G (p.Met1484Val)
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu) rs2135797458
NM_000051.4(ATM):c.4451T>A (p.Met1484Lys)
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr) rs786203785
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.4456G>A (p.Val1486Met) rs786203352
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
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.4466G>C (p.Arg1489Pro)
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu) rs201594549
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.4477C>G (p.Leu1493Val) rs377595814
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser) rs1060501576
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.4(ATM):c.4484G>T (p.Cys1495Phe) rs878853510
NM_000051.4(ATM):c.4487A>G (p.Asp1496Gly)
NM_000051.4(ATM):c.448C>A (p.Leu150Ile)
NM_000051.4(ATM):c.448C>T (p.Leu150Phe) rs1555059404
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser) rs1329359780
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.4499A>C (p.Gln1500Pro) rs786203789
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg) rs786203789
NM_000051.4(ATM):c.449T>C (p.Leu150Pro) rs2079244605
NM_000051.4(ATM):c.44T>A (p.Leu15Gln) rs1555053927
NM_000051.4(ATM):c.44T>G (p.Leu15Arg) rs1555053927
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe) rs370574283
NM_000051.4(ATM):c.4505G>A (p.Cys1502Tyr) rs759340881
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg) rs1555099858
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile) rs1060501638
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.451T>C (p.Ser151Pro) rs1565357241
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg) rs1064795574
NM_000051.4(ATM):c.4526G>A (p.Cys1509Tyr) rs2082866294
NM_000051.4(ATM):c.452C>G (p.Ser151Cys) rs1565357249
NM_000051.4(ATM):c.452C>T (p.Ser151Phe) rs1565357249
NM_000051.4(ATM):c.4531G>A (p.Asp1511Asn) rs2135800277
NM_000051.4(ATM):c.4531G>C (p.Asp1511His) rs2135800277
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val) rs1591674356
NM_000051.4(ATM):c.4533T>A (p.Asp1511Glu)
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val) rs1591674385
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val) rs2082867393
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.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.4552C>A (p.His1518Asn) rs2135800970
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.4558A>T (p.Ile1520Phe)
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile) rs141329176
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala) rs786202673
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg) rs1064795495
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp) rs1555099954
NM_000051.4(ATM):c.4565G>T (p.Gly1522Val) rs1555099954
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile) rs1555099959
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile) rs780603110
NM_000051.4(ATM):c.4570C>G (p.Leu1524Val) rs780603110
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe) rs780603110
NM_000051.4(ATM):c.4571T>A (p.Leu1524His) rs1555099971
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met) rs781539071
NM_000051.4(ATM):c.4576C>G (p.Pro1526Ala) rs748898098
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
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.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.4(ATM):c.457A>G (p.Arg153Gly) rs1555059438
NM_000051.4(ATM):c.4585T>C (p.Tyr1529His)
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys) rs1365089723
NM_000051.4(ATM):c.4589A>C (p.Glu1530Ala) rs2082872800
NM_000051.4(ATM):c.4594G>A (p.Val1532Met) rs2135802444
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.4605G>C (p.Gln1535His)
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.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.4612G>C (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn) rs778622948
NM_000051.4(ATM):c.4618G>C (p.Asp1540His) rs778622948
NM_000051.4(ATM):c.4621T>G (p.Leu1541Val)
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe) rs3092849
NM_000051.4(ATM):c.4636G>A (p.Val1546Met) rs1305696123
NM_000051.4(ATM):c.4637_4642del (p.Val1546_Ile1547del) rs2135810241
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.4(ATM):c.4642_4643inv (p.Asp1548Ser)
NM_000051.4(ATM):c.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.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.4655A>G (p.Asn1552Ser) rs2135810797
NM_000051.4(ATM):c.465_479del (p.Trp156_Ser160del) rs2079245695
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.4667A>C (p.Tyr1556Ser) rs587782037
NM_000051.4(ATM):c.4667A>T (p.Tyr1556Phe)
NM_000051.4(ATM):c.4669A>G (p.Ile1557Val) rs2135811264
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn) rs2082917922
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met) rs966733287
NM_000051.4(ATM):c.4673C>A (p.Thr1558Lys) rs587781712
NM_000051.4(ATM):c.4676T>G (p.Ile1559Ser)
NM_000051.4(ATM):c.4678A>C (p.Lys1560Gln) rs767981230
NM_000051.4(ATM):c.4680G>C (p.Lys1560Asn) rs2135811674
NM_000051.4(ATM):c.4681C>G (p.Leu1561Val) rs1591677342
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe) rs1591677342
NM_000051.4(ATM):c.4682T>C (p.Leu1561Pro) rs2135811719
NM_000051.4(ATM):c.4687G>C (p.Asp1563His) rs1464587365
NM_000051.4(ATM):c.4690C>A (p.Pro1564Thr) rs1490905322
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu) rs1064793971
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn) rs876659069
NM_000051.4(ATM):c.4705G>T (p.Val1569Phe)
NM_000051.4(ATM):c.4706T>C (p.Val1569Ala) rs1555100549
NM_000051.4(ATM):c.4708G>A (p.Val1570Ile)
NM_000051.4(ATM):c.470G>A (p.Cys157Tyr)
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)
NM_000051.4(ATM):c.4720T>G (p.Leu1574Val)
NM_000051.4(ATM):c.4723C>A (p.Arg1575Ser) rs1408892416
NM_000051.4(ATM):c.4723C>G (p.Arg1575Gly) rs1408892416
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys) rs1408892416
NM_000051.4(ATM):c.4726A>G (p.Ile1576Val) rs2082921955
NM_000051.4(ATM):c.4729A>G (p.Thr1577Ala)
NM_000051.4(ATM):c.4730C>T (p.Thr1577Ile) rs2135812963
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg) rs2082922811
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.4741A>G (p.Ile1581Val) rs1565463271
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met) rs1591677662
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.4756G>A (p.Gly1586Arg) rs1565463314
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)
NM_000051.4(ATM):c.475A>C (p.Ile159Leu) rs1565357315
NM_000051.4(ATM):c.4760C>A (p.Pro1587His) rs748044422
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.4769T>G (p.Leu1590Arg)
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp) rs1565463381
NM_000051.4(ATM):c.4775A>C (p.Glu1592Ala) rs1565463405
NM_000051.4(ATM):c.4776+4A>G rs1591677924
NM_000051.4(ATM):c.4776+6A>C rs1348555180
NM_000051.4(ATM):c.4776G>A (p.Glu1592=) rs786202973
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp) rs786202973
NM_000051.4(ATM):c.4777-4_4777-3del rs2083032760
NM_000051.4(ATM):c.4777-7_4777-6del rs1064794458
NM_000051.4(ATM):c.477A>G (p.Ile159Met) rs786202644
NM_000051.4(ATM):c.4780A>G (p.Ile1594Val) rs1555101615
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr) rs1555101621
NM_000051.4(ATM):c.4782T>G (p.Ile1594Met) rs2135833642
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.4(ATM):c.4785C>A (p.Asn1595Lys) rs2135833730
NM_000051.4(ATM):c.478T>G (p.Ser160Ala) rs761170769
NM_000051.4(ATM):c.4790T>G (p.Phe1597Cys) rs2083034224
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.4799T>A (p.Val1600Glu) rs1591684386
NM_000051.4(ATM):c.4799T>C (p.Val1600Ala) rs1591684386
NM_000051.4(ATM):c.479C>T (p.Ser160Phe) rs35858242
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly) rs876660520
NM_000051.4(ATM):c.4802G>C (p.Ser1601Thr) rs587782506
NM_000051.4(ATM):c.4804G>T (p.Val1602Phe)
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.480_482dup (p.Ser160_Gln161insHis)
NM_000051.4(ATM):c.4811A>G (p.Asp1604Gly) rs1591684476
NM_000051.4(ATM):c.4813G>A (p.Ala1605Thr) rs1555101706
NM_000051.4(ATM):c.4814C>A (p.Ala1605Glu)
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe) rs746103632
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.4825A>G (p.Thr1609Ala) rs761197886
NM_000051.4(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.4(ATM):c.482A>G (p.Gln161Arg) rs587780625
NM_000051.4(ATM):c.4831C>T (p.Leu1611Phe) rs1026156596
NM_000051.4(ATM):c.4832T>C (p.Leu1611Pro)
NM_000051.4(ATM):c.4838G>C (p.Gly1613Ala) rs2083038889
NM_000051.4(ATM):c.4838G>T (p.Gly1613Val) rs2083038889
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.4843A>G (p.Lys1615Glu)
NM_000051.4(ATM):c.4844A>C (p.Lys1615Thr) rs867309383
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.4850T>C (p.Leu1617Pro) rs2083040595
NM_000051.4(ATM):c.4852C>G (p.Arg1618Gly) rs762083530
NM_000051.4(ATM):c.4853G>T (p.Arg1618Leu) rs765759912
NM_000051.4(ATM):c.485A>G (p.Gln162Arg) rs1285593159
NM_000051.4(ATM):c.4860A>T (p.Gln1620His)
NM_000051.4(ATM):c.4861C>G (p.Leu1621Val)
NM_000051.4(ATM):c.4862T>A (p.Leu1621Gln) rs1555101864
NM_000051.4(ATM):c.4864G>C (p.Glu1622Gln) rs2083042425
NM_000051.4(ATM):c.4865A>G (p.Glu1622Gly) rs1555101872
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.4870C>A (p.His1624Asn) rs1591684971
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.4(ATM):c.4874A>G (p.Lys1625Arg) rs1591685009
NM_000051.4(ATM):c.4876G>T (p.Asp1626Tyr)
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys) rs886039592
NM_000051.4(ATM):c.4879C>G (p.Gln1627Glu)
NM_000051.4(ATM):c.487C>G (p.Gln163Glu) rs1591475608
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg) rs786203857
NM_000051.4(ATM):c.4882A>G (p.Met1628Val) rs1591685091
NM_000051.4(ATM):c.4882A>T (p.Met1628Leu) rs1591685091
NM_000051.4(ATM):c.4884G>T (p.Met1628Ile) rs2083044750
NM_000051.4(ATM):c.4885G>A (p.Val1629Met) rs876660748
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu) rs876660748
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly) rs1565466579
NM_000051.4(ATM):c.4891A>T (p.Ile1631Phe) rs2135837721
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser) rs1060501674
NM_000051.4(ATM):c.4894A>G (p.Met1632Val) rs1060501709
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly) rs1591685231
NM_000051.4(ATM):c.489G>C (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.489G>T (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr) rs1565466632
NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)
NM_000051.4(ATM):c.4903_4905del (p.Ser1635del) rs2135838090
NM_000051.4(ATM):c.4904C>A (p.Ser1635Tyr) rs2083047150
NM_000051.4(ATM):c.4906C>G (p.Gln1636Glu)
NM_000051.4(ATM):c.4909+4C>G
NM_000051.4(ATM):c.4909+5T>C rs2083048367
NM_000051.4(ATM):c.4909G>C (p.Asp1637His)
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr) rs753870656
NM_000051.4(ATM):c.490T>C (p.Trp164Arg) rs1060501699
NM_000051.4(ATM):c.4910-10T>G rs2083173059
NM_000051.4(ATM):c.4910-11A>T
NM_000051.4(ATM):c.4910-16_4910-5delinsTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGATTATCTAGAAATAATTTTTTAAAAATTAGTTTAAA
NM_000051.4(ATM):c.4910-1_4910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTATTTCTAG
NM_000051.4(ATM):c.4910-6T>G rs878853513
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr) rs1565469722
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser) rs1565469722
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg) rs752459491
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro) rs1555103190
NM_000051.4(ATM):c.4919A>G (p.Gln1640Arg) rs1555103190
NM_000051.4(ATM):c.4922A>G (p.Asp1641Gly)
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg) rs2135861446
NM_000051.4(ATM):c.4925G>A (p.Gly1642Glu)
NM_000051.4(ATM):c.4925G>C (p.Gly1642Ala)
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)
NM_000051.4(ATM):c.492G>T (p.Trp164Cys) rs1555059530
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.4936A>C (p.Lys1646Gln) rs2135861949
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.4943T>C (p.Val1648Ala) rs997081415
NM_000051.4(ATM):c.4944_4946del (p.Val1649del) rs2135862163
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp) rs2135862254
NM_000051.4(ATM):c.4948A>C (p.Asn1650His)
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr) rs55870064
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>T (p.Leu1651Phe) rs786201297
NM_000051.4(ATM):c.4957C>G (p.Gln1653Glu) rs1565469955
NM_000051.4(ATM):c.496+4T>A
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser) rs587781679
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.4966A>G (p.Lys1656Glu) rs1565470010
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg) rs2083179153
NM_000051.4(ATM):c.4969A>C (p.Met1657Leu) rs1060501656
NM_000051.4(ATM):c.4969A>G (p.Met1657Val) rs1060501656
NM_000051.4(ATM):c.4969A>T (p.Met1657Leu) rs1060501656
NM_000051.4(ATM):c.496G>A (p.Glu166Lys) rs1565357473
NM_000051.4(ATM):c.497-3A>G rs1046559213
NM_000051.4(ATM):c.497-5T>A
NM_000051.4(ATM):c.4971G>C (p.Met1657Ile)
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser) rs372679141
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr) rs1555103271
NM_000051.4(ATM):c.4978A>C (p.Asn1660His)
NM_000051.4(ATM):c.4979A>T (p.Asn1660Ile) rs2083180093
NM_000051.4(ATM):c.497A>G (p.Glu166Gly) rs863224573
NM_000051.4(ATM):c.497A>T (p.Glu166Val) rs863224573
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.4981C>A (p.His1661Asn) rs1591692950
NM_000051.4(ATM):c.4981C>T (p.His1661Tyr)
NM_000051.4(ATM):c.4984A>G (p.Thr1662Ala)
NM_000051.4(ATM):c.4985C>A (p.Thr1662Asn) rs1591692969
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile) rs1591692969
NM_000051.4(ATM):c.4986T>A (p.Thr1662=) rs2083180883
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser) rs1346404008
NM_000051.4(ATM):c.4987G>T (p.Gly1663Cys)
NM_000051.4(ATM):c.4988G>A (p.Gly1663Asp)
NM_000051.4(ATM):c.498A>C (p.Glu166Asp) 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.4991A>G (p.Glu1664Gly) rs2083181675
NM_000051.4(ATM):c.4996G>A (p.Glu1666Lys)
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile) rs780137734
NM_000051.4(ATM):c.4999G>C (p.Val1667Leu) rs780137734
NM_000051.4(ATM):c.4A>G (p.Ser2Gly) rs1591445677
NM_000051.4(ATM):c.5000T>C (p.Val1667Ala)
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly) rs2135864002
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile) rs747317946
NM_000051.4(ATM):c.5004A>G (p.Leu1668=) rs768565424
NM_000051.4(ATM):c.5005G>C (p.Glu1669Gln)
NM_000051.4(ATM):c.5006-4G>A rs1591701752
NM_000051.4(ATM):c.5006-5T>A rs1555104475
NM_000051.4(ATM):c.5006-5T>G
NM_000051.4(ATM):c.5007G>C (p.Glu1669Asp) rs2135887789
NM_000051.4(ATM):c.5008G>T (p.Ala1670Ser)
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile) rs1057523385
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.5012T>C (p.Val1671Ala) rs1361913028
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn) rs878853515
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.5024T>C (p.Leu1675Ser)
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu) rs1565473530
NM_000051.4(ATM):c.5028_5036del (p.Glu1677_Gly1679del) rs1555104529
NM_000051.4(ATM):c.5028_5045del (p.Glu1677_Asp1682del) rs2135888605
NM_000051.4(ATM):c.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.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.5041A>G (p.Ile1681Val) rs1298268285
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.4(ATM):c.5042T>G (p.Ile1681Arg) rs1307715383
NM_000051.4(ATM):c.5043A>G (p.Ile1681Met) rs2083322309
NM_000051.4(ATM):c.5044G>A (p.Asp1682Asn) rs121434217
NM_000051.4(ATM):c.5044G>T (p.Asp1682Tyr)
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
NM_000051.4(ATM):c.5045A>T (p.Asp1682Val) rs980731959
NM_000051.4(ATM):c.5048T>A (p.Phe1683Tyr) rs2083322735
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr) rs1591702098
NM_000051.4(ATM):c.5051C>G (p.Ser1684Cys) rs1565473651
NM_000051.4(ATM):c.5051C>T (p.Ser1684Phe) rs1565473651
NM_000051.4(ATM):c.5053A>C (p.Thr1685Pro) rs879254205
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.5053A>T (p.Thr1685Ser)
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr) rs1555104597
NM_000051.4(ATM):c.505_516del (p.Ser169_Phe172del) rs2135221888
NM_000051.4(ATM):c.5060C>G (p.Ala1687Gly) rs1591702201
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg) rs199836342
NM_000051.4(ATM):c.5066A>G (p.Gln1689Arg) rs1555104616
NM_000051.4(ATM):c.5068C>G (p.His1690Asp) rs1591702291
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly) rs1800059
NM_000051.4(ATM):c.5074A>G (p.Lys1692Glu) rs2083326508
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.5087A>G (p.Tyr1696Cys) rs1555104673
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.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.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.5098C>T (p.Leu1700Phe) rs2135890776
NM_000051.4(ATM):c.5099T>G (p.Leu1700Arg) rs2135890816
NM_000051.4(ATM):c.50A>C (p.His17Pro)
NM_000051.4(ATM):c.50A>G (p.His17Arg) rs1242444722
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu) rs746220021
NM_000051.4(ATM):c.5102A>C (p.Lys1701Thr) rs2083330722
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.5111A>G (p.Glu1704Gly) rs2083331490
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn) rs1565474013
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly) rs2083331705
NM_000051.4(ATM):c.5114A>T (p.Asp1705Val)
NM_000051.4(ATM):c.5116A>G (p.Lys1706Glu) rs1291151519
NM_000051.4(ATM):c.5119G>A (p.Glu1707Lys) rs1565474056
NM_000051.4(ATM):c.5122C>T (p.Leu1708Phe) rs1555104730
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg) rs587780627
NM_000051.4(ATM):c.5127G>C (p.Gln1709His) rs1057521839
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
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.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.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg) rs1591702873
NM_000051.4(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.4(ATM):c.514T>G (p.Phe172Val)
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)
NM_000051.4(ATM):c.5152_5160dup (p.Asn1720_Thr1721insLeuAsnAsn)
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln) rs1555104784
NM_000051.4(ATM):c.5155A>G (p.Asn1719Asp) rs2083336312
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5158A>G (p.Asn1720Asp) rs2135892784
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile) rs786203910
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.5168T>C (p.Val1723Ala) rs915337829
NM_000051.4(ATM):c.5171A>G (p.Glu1724Gly) rs2135893191
NM_000051.4(ATM):c.5173G>A (p.Asp1725Asn)
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr) rs1555104799
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>T rs759373136
NM_000051.4(ATM):c.5177+6T>A rs1555104814
NM_000051.4(ATM):c.5177G>T (p.Cys1726Phe) rs2083338412
NM_000051.4(ATM):c.5178-10T>G rs1565476613
NM_000051.4(ATM):c.5178-11_5178-9del
NM_000051.4(ATM):c.5178-14A>G
NM_000051.4(ATM):c.5178-3del rs1555105575
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
NM_000051.4(ATM):c.5184A>T (p.Lys1728Asn)
NM_000051.4(ATM):c.5186T>A (p.Val1729Asp)
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
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.5191T>C (p.Ser1731Pro) rs1064793038
NM_000051.4(ATM):c.5193AGC[1] (p.Ala1733del) rs2135912045
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.4(ATM):c.5194G>T (p.Ala1732Ser)
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr) rs1591708460
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)
NM_000051.4(ATM):c.519G>A (p.Arg173=)
NM_000051.4(ATM):c.5201T>C (p.Val1734Ala)
NM_000051.4(ATM):c.5204C>A (p.Thr1735Asn)
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile) rs1555105650
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr) rs1172318140
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp) rs1591708558
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu) rs1064793957
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)
NM_000051.4(ATM):c.5218A>C (p.Ile1740Leu) rs1358200819
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser) rs750896881
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe) rs1591708658
NM_000051.4(ATM):c.5225C>T (p.Ala1742Val)
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala) rs758924620
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser) rs758924620
NM_000051.4(ATM):c.5231A>G (p.Lys1744Arg)
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn) rs2083440178
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg) rs1060501571
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu)
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val) rs879254135
NM_000051.4(ATM):c.5238A>G (p.Gly1746=)
NM_000051.4(ATM):c.5239C>T (p.His1747Tyr)
NM_000051.4(ATM):c.523T>A (p.Tyr175Asn) rs2079697425
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg) rs876658175
NM_000051.4(ATM):c.5242A>G (p.Ser1748Gly)
NM_000051.4(ATM):c.5243G>T (p.Ser1748Ile)
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg) rs2083440966
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser) rs1591708790
NM_000051.4(ATM):c.5248T>C (p.Trp1750Arg)
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.5257T>G (p.Tyr1753Asp)
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5261A>G (p.Lys1754Arg)
NM_000051.4(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.4(ATM):c.5264T>A (p.Met1755Lys) rs1555105739
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr) rs1555105739
NM_000051.4(ATM):c.5265G>T (p.Met1755Ile) rs1060501556
NM_000051.4(ATM):c.5265_5270delinsTTATAAGATTTATAAGAT (p.Met1755_Thr1757delinsIleTyrLysIleTyrLysIle) rs2083442751
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.4(ATM):c.5269A>C (p.Thr1757Pro) rs1591708923
NM_000051.4(ATM):c.526C>A (p.Leu176Met) rs375798802
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile) rs587781575
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu) rs913665369
NM_000051.4(ATM):c.5276C>T (p.Pro1759Leu) rs1565477222
NM_000051.4(ATM):c.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.527T>A (p.Leu176Gln) rs1555066315
NM_000051.4(ATM):c.5281C>G (p.Leu1761Val) rs2083443935
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
NM_000051.4(ATM):c.5285C>G (p.Ala1762Gly) rs1272524343
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys) rs1555105780
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val) rs2083444552
NM_000051.4(ATM):c.5291T>G (p.Leu1764Arg) rs2135915061
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg) rs35556390
NM_000051.4(ATM):c.52G>A (p.Asp18Asn) rs2078809121
NM_000051.4(ATM):c.52G>C (p.Asp18His)
NM_000051.4(ATM):c.52G>T (p.Asp18Tyr)
NM_000051.4(ATM):c.52_54dup (p.Asp18dup) rs2135005981
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser) rs864622125
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.4(ATM):c.5306C>T (p.Thr1769Ile)
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)
NM_000051.4(ATM):c.5318A>G (p.Lys1773Arg) rs2135915965
NM_000051.4(ATM):c.5319+11T>G
NM_000051.4(ATM):c.5319+3C>T rs371640963
NM_000051.4(ATM):c.5319+3_5319+5del
NM_000051.4(ATM):c.5319+4T>A rs1170957197
NM_000051.4(ATM):c.5319+4T>C rs1170957197
NM_000051.4(ATM):c.5319+5C>T rs1565477462
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn) rs2083446824
NM_000051.4(ATM):c.5319G>T (p.Lys1773Asn)
NM_000051.4(ATM):c.5320-3T>C rs1346691984
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys) rs1555106321
NM_000051.4(ATM):c.5327A>T (p.Glu1776Val) rs2083497029
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser) rs1279041730
NM_000051.4(ATM):c.5333C>T (p.Pro1778Leu)
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser) rs369351803
NM_000051.4(ATM):c.5339T>A (p.Phe1780Tyr) rs2083497990
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys) rs2083497990
NM_000051.4(ATM):c.533C>T (p.Pro178Leu) rs1591499842
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu) rs1591712154
NM_000051.4(ATM):c.5346A>C (p.Lys1782Asn) rs1555106345
NM_000051.4(ATM):c.5347G>A (p.Glu1783Lys) rs2083498434
NM_000051.4(ATM):c.5350A>G (p.Asn1784Asp)
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala) rs587779848
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.4(ATM):c.5363G>T (p.Gly1788Val) rs2135927977
NM_000051.4(ATM):c.5368G>C (p.Asp1790His) rs876658890
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.4(ATM):c.536C>T (p.Ser179Leu) rs2079698324
NM_000051.4(ATM):c.5371G>A (p.Asp1791Asn)
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly) rs367987632
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val) rs1555106405
NM_000051.4(ATM):c.5375T>G (p.Ile1792Arg) rs776309355
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met) rs1287734608
NM_000051.4(ATM):c.5377A>C (p.Asn1793His) rs730881374
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val) rs1591712398
NM_000051.4(ATM):c.5381T>G (p.Leu1794Arg)
NM_000051.4(ATM):c.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.5395A>G (p.Ser1799Gly) rs2083501896
NM_000051.4(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.4(ATM):c.539A>T (p.Gln180Leu) rs730881334
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp) rs2135928904
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr) rs2083502328
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.4(ATM):c.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.5407G>C (p.Asp1803His) rs2083502901
NM_000051.4(ATM):c.5408A>T (p.Asp1803Val) rs2135929138
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu) rs1591712583
NM_000051.4(ATM):c.541G>A (p.Asp181Asn) rs2079698928
NM_000051.4(ATM):c.5424_5429del (p.Leu1809_Thr1810del) rs2083503966
NM_000051.4(ATM):c.5425C>G (p.Leu1809Val) rs2135929542
NM_000051.4(ATM):c.5426T>A (p.Leu1809Gln) rs2083504168
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro) rs2083504168
NM_000051.4(ATM):c.5428A>G (p.Thr1810Ala) rs876659748
NM_000051.4(ATM):c.5428A>T (p.Thr1810Ser) rs876659748
NM_000051.4(ATM):c.5429C>T (p.Thr1810Ile) rs1565479223
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser) rs149569091
NM_000051.4(ATM):c.5441T>G (p.Leu1814Trp) rs2083505270
NM_000051.4(ATM):c.5442G>A (p.Leu1814=) rs2083505400
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.544G>A (p.Val182Ile) rs3218707
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser) rs774784546
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu) rs1555106531
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.4(ATM):c.545T>G (p.Val182Gly)
NM_000051.4(ATM):c.5461T>G (p.Cys1821Gly)
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr) rs1565479431
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5464G>A (p.Glu1822Lys) rs1591712872
NM_000051.4(ATM):c.5465A>C (p.Glu1822Ala) rs2135930592
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe) rs2083508049
NM_000051.4(ATM):c.5471T>C (p.Leu1824Pro) rs1565479465
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.4(ATM):c.5474A>C (p.Gln1825Pro) rs587782655
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)
NM_000051.4(ATM):c.5476T>A (p.Leu1826Ile) rs1555106563
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val) rs1555106563
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.5482A>C (p.Lys1828Gln) rs2083509111
NM_000051.4(ATM):c.5488A>T (p.Met1830Leu) rs587781622
NM_000051.4(ATM):c.548A>C (p.His183Pro) rs786204219
NM_000051.4(ATM):c.548A>G (p.His183Arg) rs786204219
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile) rs779720793
NM_000051.4(ATM):c.5492G>A (p.Cys1831Tyr) rs1555106575
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys) rs1591713057
NM_000051.4(ATM):c.5496+4A>G rs1565479590
NM_000051.4(ATM):c.5496A>G (p.Glu1832=) rs1591713080
NM_000051.4(ATM):c.5497-3T>A rs1064795486
NM_000051.4(ATM):c.5497-3T>C rs1064795486
NM_000051.4(ATM):c.5497-4dup rs2083589744
NM_000051.4(ATM):c.5497G>A (p.Val1833Met) rs2135942364
NM_000051.4(ATM):c.5498T>G (p.Val1833Gly)
NM_000051.4(ATM):c.549T>A (p.His183Gln) rs1591499967
NM_000051.4(ATM):c.549T>G (p.His183Gln) rs1591499967
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser) rs2135942516
NM_000051.4(ATM):c.5504C>T (p.Thr1835Ile)
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn) rs2135942560
NM_000051.4(ATM):c.5506G>C (p.Asp1836His) rs2135942560
NM_000051.4(ATM):c.5507A>T (p.Asp1836Val) rs1555107256
NM_000051.4(ATM):c.5509T>C (p.Phe1837Leu)
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.4(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.4(ATM):c.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.5516A>T (p.Gln1839Leu)
NM_000051.4(ATM):c.551G>A (p.Arg184Lys) rs2135223542
NM_000051.4(ATM):c.5521G>A (p.Val1841Ile) rs1565481593
NM_000051.4(ATM):c.5525T>G (p.Leu1842Arg) rs1060501619
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.5531A>C (p.Tyr1844Ser) rs876658907
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe) rs587779849
NM_000051.4(ATM):c.5537T>C (p.Ile1846Thr)
NM_000051.4(ATM):c.5539C>G (p.His1847Asp) rs1591717732
NM_000051.4(ATM):c.553G>C (p.Val185Leu)
NM_000051.4(ATM):c.5540A>G (p.His1847Arg) rs2083593874
NM_000051.4(ATM):c.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.5550A>C (p.Leu1850Phe)
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val) rs200842502
NM_000051.4(ATM):c.5552T>A (p.Leu1851His) rs2135943595
NM_000051.4(ATM):c.5552T>C (p.Leu1851Pro) rs2135943595
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.4(ATM):c.5557_5558delinsAG (p.Asp1853Ser)
NM_000051.4(ATM):c.5558A>G (p.Asp1853Gly)
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile) rs138710254
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>G (p.Asn1855Lys) rs1565481888
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln) rs1465041573
NM_000051.4(ATM):c.5570C>T (p.Ser1857Leu)
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg) rs2083597320
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.5580T>A (p.Asn1860Lys) rs2083598099
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met) rs1314298685
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.558A>C (p.Leu186Phe) 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.5593C>A (p.His1865Asn) rs567908537
NM_000051.4(ATM):c.5594A>G (p.His1865Arg) rs876659963
NM_000051.4(ATM):c.5595T>A (p.His1865Gln) rs772261410
NM_000051.4(ATM):c.5595T>G (p.His1865Gln) rs772261410
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly) rs2083600177
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys) rs2135944782
NM_000051.4(ATM):c.5599C>G (p.Gln1867Glu) rs2135944782
NM_000051.4(ATM):c.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.5602G>A (p.Gly1868Arg) rs1565482078
NM_000051.4(ATM):c.5603G>A (p.Gly1868Glu) rs1565482084
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.5611A>G (p.Thr1871Ala)
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.5617T>A (p.Cys1873Ser) rs2083601964
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
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.5627A>G (p.His1876Arg) rs967371351
NM_000051.4(ATM):c.5628C>A (p.His1876Gln) rs1237700879
NM_000051.4(ATM):c.562G>T (p.Ala188Ser) rs1555066392
NM_000051.4(ATM):c.5631C>A (p.Phe1877Leu)
NM_000051.4(ATM):c.5632T>C (p.Ser1878Pro)
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.563C>A (p.Ala188Asp) rs1555066393
NM_000051.4(ATM):c.5642G>C (p.Ser1881Thr) rs2135945850
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.5650A>G (p.Thr1884Ala) rs1555107562
NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile) rs1565482352
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile) rs2083606342
NM_000051.4(ATM):c.5659G>A (p.Ala1887Thr) rs2083606754
NM_000051.4(ATM):c.565A>G (p.Arg189Gly) rs2079701086
NM_000051.4(ATM):c.5660C>G (p.Ala1887Gly) rs1297909613
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val) rs1297909613
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met) rs746106249
NM_000051.4(ATM):c.5665T>G (p.Leu1889Val)
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.5675-10T>A rs377599533
NM_000051.4(ATM):c.5675-2dup rs2135975648
NM_000051.4(ATM):c.5675-3C>G rs876658545
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp) rs2135975691
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)
NM_000051.4(ATM):c.567A>T (p.Arg189Ser) rs1555066398
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.5686T>G (p.Phe1896Val) rs1565485959
NM_000051.4(ATM):c.568A>G (p.Ile190Val) rs1565369501
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys) rs587782516
NM_000051.4(ATM):c.5695T>A (p.Cys1899Ser) rs373213507
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.4(ATM):c.5698T>G (p.Cys1900Gly) rs2083817433
NM_000051.4(ATM):c.5699G>C (p.Cys1900Ser) rs1591731972
NM_000051.4(ATM):c.56G>C (p.Arg19Thr) rs1064793029
NM_000051.4(ATM):c.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.5708A>G (p.Lys1903Arg) rs2083818567
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg) rs1591732095
NM_000051.4(ATM):c.5719A>G (p.Arg1907Gly) rs2083819737
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.5726T>A (p.Met1909Lys) rs542378165
NM_000051.4(ATM):c.5726T>C (p.Met1909Thr) rs542378165
NM_000051.4(ATM):c.5726T>G (p.Met1909Arg) rs542378165
NM_000051.4(ATM):c.5727G>A (p.Met1909Ile) rs1555109119
NM_000051.4(ATM):c.5728C>G (p.Leu1910Val) rs143577586
NM_000051.4(ATM):c.5728C>T (p.Leu1910Phe) rs143577586
NM_000051.4(ATM):c.5729T>C (p.Leu1910Pro) rs2135977294
NM_000051.4(ATM):c.5731G>C (p.Ala1911Pro) rs2135977350
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile) rs1064794105
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu) rs1064794105
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly) rs1060501688
NM_000051.4(ATM):c.573T>G (p.Ile191Met) rs775003417
NM_000051.4(ATM):c.5741A>G (p.Asp1914Gly)
NM_000051.4(ATM):c.5743T>C (p.Tyr1915His) rs2135977706
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.5755C>A (p.Gln1919Lys)
NM_000051.4(ATM):c.5755C>G (p.Gln1919Glu) rs2083823146
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro) rs1565486302
NM_000051.4(ATM):c.5759A>G (p.Lys1920Arg) rs2135978116
NM_000051.4(ATM):c.575A>G (p.His192Arg) rs1555066411
NM_000051.4(ATM):c.575A>T (p.His192Leu)
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5762+3A>T
NM_000051.4(ATM):c.5762+3_5762+4del
NM_000051.4(ATM):c.5763-1080A>G
NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr) rs587781865
NM_000051.4(ATM):c.5765C>A (p.Pro1922His) rs751792004
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.576T>G (p.His192Gln) rs2079702502
NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu) rs876658831
NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg) rs1591745423
NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu) rs755055090
NM_000051.4(ATM):c.5774G>C (p.Gly1925Ala) rs755055090
NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del) rs786203678
NM_000051.4(ATM):c.5777C>A (p.Thr1926Lys) rs876660944
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile) rs876660944
NM_000051.4(ATM):c.5779A>G (p.Ile1927Val) rs753218533
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.5783T>G (p.Phe1928Cys) rs2136012463
NM_000051.4(ATM):c.5784T>A (p.Phe1928Leu) rs1290871799
NM_000051.4(ATM):c.5786A>T (p.Asn1929Ile) rs756661278
NM_000051.4(ATM):c.5789A>T (p.Asp1930Val)
NM_000051.4(ATM):c.578C>G (p.Ala193Gly) rs1064793928
NM_000051.4(ATM):c.5791G>A (p.Ala1931Thr) rs2136012919
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val) rs1243690083
NM_000051.4(ATM):c.5794T>A (p.Phe1932Ile)
NM_000051.4(ATM):c.5794T>C (p.Phe1932Leu) rs2084025775
NM_000051.4(ATM):c.5795T>G (p.Phe1932Cys) rs1591745679
NM_000051.4(ATM):c.5799G>C (p.Trp1933Cys) rs2084026241
NM_000051.4(ATM):c.5799G>T (p.Trp1933Cys) rs2084026241
NM_000051.4(ATM):c.5799_5800delinsTT (p.Trp1933Cys)
NM_000051.4(ATM):c.5800C>A (p.Leu1934Met) rs2084026395
NM_000051.4(ATM):c.5801T>C (p.Leu1934Pro)
NM_000051.4(ATM):c.5802G>A (p.Leu1934=)
NM_000051.4(ATM):c.5803G>A (p.Asp1935Asn) rs1299051422
NM_000051.4(ATM):c.5803G>T (p.Asp1935Tyr)
NM_000051.4(ATM):c.5809A>G (p.Asn1937Asp) rs2136013971
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn) rs786203668
NM_000051.4(ATM):c.5816T>G (p.Leu1939Arg) rs1555110340
NM_000051.4(ATM):c.5818G>A (p.Glu1940Lys) rs2084028082
NM_000051.4(ATM):c.581T>C (p.Val194Ala) rs2135224694
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp) rs2084028240
NM_000051.4(ATM):c.5821G>T (p.Val1941Phe) rs147187700
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly) rs876660334
NM_000051.4(ATM):c.5824G>A (p.Ala1942Thr) rs1286443989
NM_000051.4(ATM):c.5828A>C (p.Lys1943Thr) rs746676271
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu) rs1555110379
NM_000051.4(ATM):c.5834C>G (p.Ala1945Gly)
NM_000051.4(ATM):c.5834C>T (p.Ala1945Val) rs1356309376
NM_000051.4(ATM):c.5838G>T (p.Gln1946His) rs1060501612
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr) rs1555110399
NM_000051.4(ATM):c.5840C>T (p.Ser1947Phe)
NM_000051.4(ATM):c.5845G>A (p.Ala1949Thr) rs1555110401
NM_000051.4(ATM):c.5845G>T (p.Ala1949Ser) rs1555110401
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr) rs1591746066
NM_000051.4(ATM):c.5849C>A (p.Ala1950Asp) rs1591746083
NM_000051.4(ATM):c.5849C>T (p.Ala1950Val) rs1591746083
NM_000051.4(ATM):c.584C>A (p.Thr195Asn)
NM_000051.4(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.4(ATM):c.5851C>G (p.His1951Asp) rs1060501673
NM_000051.4(ATM):c.5854T>A (p.Phe1952Ile) rs1555110421
NM_000051.4(ATM):c.5857A>G (p.Thr1953Ala) rs2084033441
NM_000051.4(ATM):c.5858C>A (p.Thr1953Lys)
NM_000051.4(ATM):c.5858C>G (p.Thr1953Arg) rs587781963
NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly) rs1565489916
NM_000051.4(ATM):c.5865A>C (p.Leu1955Phe)
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.4(ATM):c.5867T>A (p.Leu1956His) rs876658989
NM_000051.4(ATM):c.586A>C (p.Lys196Gln) rs2079703283
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys) rs1591746364
NM_000051.4(ATM):c.5872G>C (p.Ala1958Pro)
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val) rs2136017305
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly) rs876660515
NM_000051.4(ATM):c.587A>G (p.Lys196Arg)
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.5887G>C (p.Asp1963His) rs864622148
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.4(ATM):c.588A>G (p.Lys196=) rs2135224945
NM_000051.4(ATM):c.5891A>G (p.Lys1964Arg) rs1555110503
NM_000051.4(ATM):c.5892_5894del (p.Lys1965del) rs2084037387
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn) rs1565490147
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn) rs1555110520
NM_000051.4(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.4(ATM):c.589G>A (p.Gly197Arg) rs764080545
NM_000051.4(ATM):c.58G>A (p.Ala20Thr) rs1555053946
NM_000051.4(ATM):c.5901G>A (p.Met1967Ile) rs2136018731
NM_000051.4(ATM):c.5903A>G (p.Asp1968Gly) rs2136018837
NM_000051.4(ATM):c.5905G>T (p.Asp1969Tyr) rs1156785681
NM_000051.4(ATM):c.5906A>C (p.Asp1969Ala)
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg) rs1555110568
NM_000051.4(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.4(ATM):c.5912A>T (p.Glu1971Val) rs1565490253
NM_000051.4(ATM):c.5913G>T (p.Glu1971Asp) rs2084040593
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.5917A>C (p.Arg1973=) rs786202089
NM_000051.4(ATM):c.5918+3A>G rs1555110595
NM_000051.4(ATM):c.5918+6G>A rs2084041898
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5919-16T>C
NM_000051.4(ATM):c.5919-20G>T
NM_000051.4(ATM):c.5921G>A (p.Ser1974Asn) rs2084241093
NM_000051.4(ATM):c.5923C>A (p.Leu1975Ile) rs2084241290
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr) rs2084241683
NM_000051.4(ATM):c.5926G>C (p.Ala1976Pro) rs2084241683
NM_000051.4(ATM):c.5927C>G (p.Ala1976Gly)
NM_000051.4(ATM):c.5927C>T (p.Ala1976Val) rs1197973623
NM_000051.4(ATM):c.5931T>A (p.Phe1977Leu) rs2136059294
NM_000051.4(ATM):c.5935G>A (p.Glu1979Lys)
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser) rs1060501603
NM_000051.4(ATM):c.5951C>G (p.Thr1984Arg) rs770722380
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala) rs879254252
NM_000051.4(ATM):c.5954C>T (p.Thr1985Ile) rs1207215818
NM_000051.4(ATM):c.5954_5998dup (p.Ile1999_Ser2000insThrIleSerSerLeuSerGluLysSerLysGluGluThrGlyIle) rs2136060457
NM_000051.4(ATM):c.5957T>C (p.Ile1986Thr) rs2084246805
NM_000051.4(ATM):c.595T>C (p.Cys199Arg) rs1591500295
NM_000051.4(ATM):c.5964C>G (p.Ser1988Arg) rs774260725
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.4(ATM):c.5968A>C (p.Ser1990Arg) rs1275100503
NM_000051.4(ATM):c.5968A>G (p.Ser1990Gly)
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr) rs879254127
NM_000051.4(ATM):c.5970T>A (p.Ser1990Arg) rs2084248780
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly) rs866824608
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp) rs587782274
NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg) rs150757822
NM_000051.4(ATM):c.5975_5977del (p.Lys1992del) rs1591758642
NM_000051.4(ATM):c.5977A>C (p.Ser1993Arg) rs1591758703
NM_000051.4(ATM):c.5978G>A (p.Ser1993Asn) rs1406659883
NM_000051.4(ATM):c.5978G>T (p.Ser1993Ile) rs1406659883
NM_000051.4(ATM):c.597T>G (p.Cys199Trp) rs1565369633
NM_000051.4(ATM):c.5980A>C (p.Lys1994Gln) rs1565493693
NM_000051.4(ATM):c.5980A>G (p.Lys1994Glu)
NM_000051.4(ATM):c.5982_5983insAGTAAGAAAAAAAGTAAA (p.Lys1994_Glu1995insSerLysLysLysSerLys)
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys) rs1555111886
NM_000051.4(ATM):c.5983GAA[1] (p.Glu1996del) rs1555111872
NM_000051.4(ATM):c.5988A>T (p.Glu1996Asp) rs1591758852
NM_000051.4(ATM):c.5989A>C (p.Thr1997Pro) rs1591758871
NM_000051.4(ATM):c.5989A>G (p.Thr1997Ala)
NM_000051.4(ATM):c.5990C>T (p.Thr1997Ile) rs2084253742
NM_000051.4(ATM):c.5993G>A (p.Gly1998Glu) rs1188125296
NM_000051.4(ATM):c.5995A>C (p.Ile1999Leu) rs1201228506
NM_000051.4(ATM):c.5995A>G (p.Ile1999Val) rs1201228506
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys) rs2136063107
NM_000051.4(ATM):c.5996T>C (p.Ile1999Thr)
NM_000051.4(ATM):c.5999G>T (p.Ser2000Ile) rs775921052
NM_000051.4(ATM):c.599C>G (p.Ser200Cys) rs1060501562
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser) rs1555111910
NM_000051.4(ATM):c.6005A>G (p.Gln2002Arg) rs1591759049
NM_000051.4(ATM):c.6006+3A>C
NM_000051.4(ATM):c.6006+4A>C
NM_000051.4(ATM):c.6006+4A>G
NM_000051.4(ATM):c.6006+4_6006+5del rs879254108
NM_000051.4(ATM):c.6006+6T>C rs1565493858
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6006G>C (p.Gln2002His) rs1591759073
NM_000051.4(ATM):c.6007-20T>A
NM_000051.4(ATM):c.6007-3C>G rs2084583739
NM_000051.4(ATM):c.6007-6T>G rs2136116961
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.4(ATM):c.6008A>G (p.Asp2003Gly) rs2136117409
NM_000051.4(ATM):c.6009T>G (p.Asp2003Glu) rs878853526
NM_000051.4(ATM):c.6010C>A (p.Leu2004Ile) rs1060501561
NM_000051.4(ATM):c.6011T>C (p.Leu2004Pro) rs1064795932
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg) rs1064795932
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
NM_000051.4(ATM):c.6016T>G (p.Leu2006Val) rs1555113531
NM_000051.4(ATM):c.6021A>T (p.Glu2007Asp) rs1555113549
NM_000051.4(ATM):c.6022A>G (p.Ile2008Val) rs2084586855
NM_000051.4(ATM):c.6023T>C (p.Ile2008Thr) rs876660227
NM_000051.4(ATM):c.6024C>G (p.Ile2008Met) rs2136118296
NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn) rs199586999
NM_000051.4(ATM):c.6026A>G (p.Tyr2009Cys) rs2136118434
NM_000051.4(ATM):c.6028A>G (p.Arg2010Gly) rs2136118563
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met) rs1591776713
NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg) rs2084587881
NM_000051.4(ATM):c.6038G>C (p.Gly2013Ala)
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys) rs375783941
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6041A>G (p.Glu2014Gly)
NM_000051.4(ATM):c.6043C>G (p.Pro2015Ala)
NM_000051.4(ATM):c.6044C>T (p.Pro2015Leu) rs2084588823
NM_000051.4(ATM):c.6047A>T (p.Asp2016Val) rs587781302
NM_000051.4(ATM):c.6050_6057delinsTA (p.Ser2017_Tyr2019delinsIle) rs1565498913
NM_000051.4(ATM):c.6051T>G (p.Ser2017Arg) rs2084589926
NM_000051.4(ATM):c.6051_6053dup (p.Ser2017_Leu2018insPhe)
NM_000051.4(ATM):c.6053T>C (p.Leu2018Ser) rs755694394
NM_000051.4(ATM):c.6053T>G (p.Leu2018Trp)
NM_000051.4(ATM):c.6053_6055del (p.Leu2018del)
NM_000051.4(ATM):c.6054G>T (p.Leu2018Phe)
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His) rs1591776885
NM_000051.4(ATM):c.6056A>C (p.Tyr2019Ser) rs876658415
NM_000051.4(ATM):c.6058G>C (p.Gly2020Arg) rs2084590997
NM_000051.4(ATM):c.6059G>A (p.Gly2020Asp) rs1591776938
NM_000051.4(ATM):c.6059G>T (p.Gly2020Val) rs1591776938
NM_000051.4(ATM):c.605C>T (p.Thr202Ile) rs1555066438
NM_000051.4(ATM):c.6061T>C (p.Cys2021Arg) rs1591776961
NM_000051.4(ATM):c.6065G>A (p.Gly2022Asp) rs1591777028
NM_000051.4(ATM):c.6070G>A (p.Gly2024Arg) rs1565499041
NM_000051.4(ATM):c.6070G>T (p.Gly2024Trp) rs1565499041
NM_000051.4(ATM):c.6071G>A (p.Gly2024Glu) rs1060501564
NM_000051.4(ATM):c.6075G>T (p.Lys2025Asn) rs1591777158
NM_000051.4(ATM):c.6077T>C (p.Met2026Thr) rs2136121082
NM_000051.4(ATM):c.607G>A (p.Asp203Asn) rs1591500372
NM_000051.4(ATM):c.6082C>A (p.Gln2028Lys) rs876659454
NM_000051.4(ATM):c.6082C>G (p.Gln2028Glu) rs876659454
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg) rs863224575
NM_000051.4(ATM):c.6086C>T (p.Pro2029Leu) rs863224575
NM_000051.4(ATM):c.6091A>C (p.Thr2031Pro) rs1591777327
NM_000051.4(ATM):c.6092C>G (p.Thr2031Ser) rs1555113613
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.6095+4A>C rs1555113632
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6095G>T (p.Arg2032Ile) rs139770721
NM_000051.4(ATM):c.6096-3T>G rs748380897
NM_000051.4(ATM):c.6096-3del
NM_000051.4(ATM):c.6096A>T (p.Arg2032Ser) rs1591778359
NM_000051.4(ATM):c.6097C>G (p.Leu2033Val) rs769813736
NM_000051.4(ATM):c.6098T>C (p.Leu2033Pro) rs876660681
NM_000051.4(ATM):c.6101G>C (p.Arg2034Pro) rs3218670
NM_000051.4(ATM):c.6104C>T (p.Thr2035Ile) rs2136127153
NM_000051.4(ATM):c.6106T>G (p.Tyr2036Asp) rs1591778483
NM_000051.4(ATM):c.6107A>G (p.Tyr2036Cys) rs786204141
NM_000051.4(ATM):c.6109G>A (p.Glu2037Lys)
NM_000051.4(ATM):c.6109G>C (p.Glu2037Gln) rs1448711296
NM_000051.4(ATM):c.6110A>G (p.Glu2037Gly) rs2084612043
NM_000051.4(ATM):c.6112C>A (p.His2038Asn) rs1060501643
NM_000051.4(ATM):c.6112C>G (p.His2038Asp) rs1060501643
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr) rs1060501643
NM_000051.4(ATM):c.6113A>G (p.His2038Arg) rs2084612536
NM_000051.4(ATM):c.6114C>A (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6116A>G (p.Glu2039Gly) rs876659558
NM_000051.4(ATM):c.6118G>C (p.Ala2040Pro) rs863224576
NM_000051.4(ATM):c.6118_6119delinsAT (p.Ala2040Ile) rs1555113730
NM_000051.4(ATM):c.6119C>A (p.Ala2040Glu) rs1299506506
NM_000051.4(ATM):c.6119C>G (p.Ala2040Gly)
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.4(ATM):c.6122T>A (p.Met2041Lys)
NM_000051.4(ATM):c.6123G>A (p.Met2041Ile) rs1555113740
NM_000051.4(ATM):c.6124T>C (p.Trp2042Arg) rs1591778747
NM_000051.4(ATM):c.6125G>T (p.Trp2042Leu) rs1565499657
NM_000051.4(ATM):c.6126G>C (p.Trp2042Cys) rs2084615312
NM_000051.4(ATM):c.6127_6136delinsT (p.Gly2043_Ala2045del) rs1064792941
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val) rs753384717
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr) rs2084616257
NM_000051.4(ATM):c.6136C>G (p.Leu2046Val) rs1456877872
NM_000051.4(ATM):c.6139G>A (p.Val2047Ile) rs1591778897
NM_000051.4(ATM):c.6139_6141dup (p.Val2047_Thr2048insVal) rs1591778872
NM_000051.4(ATM):c.6140T>G (p.Val2047Gly) rs878853528
NM_000051.4(ATM):c.6145T>C (p.Tyr2049His)
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6146A>G (p.Tyr2049Cys) rs1233757467
NM_000051.4(ATM):c.614T>C (p.Leu205Ser)
NM_000051.4(ATM):c.6151C>A (p.Leu2051Ile) rs1591779081
NM_000051.4(ATM):c.6151C>T (p.Leu2051Phe) rs1591779081
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly) rs1591779138
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg) rs2136130260
NM_000051.4(ATM):c.6160G>A (p.Ala2054Thr) rs587779853
NM_000051.4(ATM):c.6161C>G (p.Ala2054Gly)
NM_000051.4(ATM):c.6163_6165del (p.Ile2055del) rs1565499855
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu) rs1565499875
NM_000051.4(ATM):c.6169T>C (p.Ser2057Pro) rs2084622401
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.4(ATM):c.6170C>T (p.Ser2057Leu) rs1591779290
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala) rs1329479941
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser) rs587778078
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.4(ATM):c.6179G>T (p.Arg2060Leu) rs376521407
NM_000051.4(ATM):c.6182A>C (p.Gln2061Pro) rs1591779456
NM_000051.4(ATM):c.6184G>T (p.Ala2062Ser) rs2136131994
NM_000051.4(ATM):c.6191T>A (p.Ile2064Asn) rs1555113854
NM_000051.4(ATM):c.6191T>C (p.Ile2064Thr) rs1555113854
NM_000051.4(ATM):c.6192C>G (p.Ile2064Met)
NM_000051.4(ATM):c.6196C>A (p.Gln2066Lys) rs1361215494
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu) rs1361215494
NM_000051.4(ATM):c.6196_6198del (p.Gln2066del) rs2136132718
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg) rs1565500074
NM_000051.4(ATM):c.6198+3A>C rs786202092
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6198+4C>T rs749370650
NM_000051.4(ATM):c.6198G>A (p.Gln2066=) rs786203341
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.6199-7T>A rs1060501631
NM_000051.4(ATM):c.6199G>A (p.Ala2067Thr) rs1555114549
NM_000051.4(ATM):c.6199G>T (p.Ala2067Ser) rs1555114549
NM_000051.4(ATM):c.61A>C (p.Thr21Pro)
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6204_6205delinsAA (p.Gln2069Lys)
NM_000051.4(ATM):c.6205C>G (p.Gln2069Glu) rs1555114563
NM_000051.4(ATM):c.6207G>C (p.Gln2069His) rs2136162810
NM_000051.4(ATM):c.6208A>G (p.Asn2070Asp) rs2136162879
NM_000051.4(ATM):c.6208A>T (p.Asn2070Tyr)
NM_000051.4(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg) rs1555114568
NM_000051.4(ATM):c.6215G>A (p.Gly2072Glu) rs1183544857
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val) rs767406075
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6218T>A (p.Leu2073His)
NM_000051.4(ATM):c.6218T>C (p.Leu2073Pro) rs1555114582
NM_000051.4(ATM):c.6218_6219delinsAA (p.Leu2073Gln)
NM_000051.4(ATM):c.6220T>C (p.Cys2074Arg) rs2136163545
NM_000051.4(ATM):c.6224A>C (p.His2075Pro) rs1555114602
NM_000051.4(ATM):c.6224A>G (p.His2075Arg) rs1555114602
NM_000051.4(ATM):c.6229C>A (p.Leu2077Ile) rs1591789195
NM_000051.4(ATM):c.6229C>G (p.Leu2077Val) rs1591789195
NM_000051.4(ATM):c.6229C>T (p.Leu2077Phe)
NM_000051.4(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.6230T>C (p.Leu2077Pro)
NM_000051.4(ATM):c.6232T>A (p.Ser2078Thr)
NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe) rs786204173
NM_000051.4(ATM):c.6235_6236insAAG (p.Ser2078_Val2079insGlu) rs1591789280
NM_000051.4(ATM):c.6236T>C (p.Val2079Ala)
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys) rs587779855
NM_000051.4(ATM):c.623A>G (p.Lys208Arg) rs2135226282
NM_000051.4(ATM):c.6243A>T (p.Leu2081Phe) rs2084779894
NM_000051.4(ATM):c.6245A>C (p.Lys2082Thr) rs2136164813
NM_000051.4(ATM):c.6245A>T (p.Lys2082Ile)
NM_000051.4(ATM):c.6246A>T (p.Lys2082Asn) rs745977589
NM_000051.4(ATM):c.6247G>C (p.Gly2083Arg) rs1060501586
NM_000051.4(ATM):c.6248G>A (p.Gly2083Glu) rs1060501559
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala) rs1060501559
NM_000051.4(ATM):c.6248G>T (p.Gly2083Val) rs1060501559
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val) rs772608345
NM_000051.4(ATM):c.6253G>C (p.Asp2085His) rs730881379
NM_000051.4(ATM):c.6254A>T (p.Asp2085Val) rs2136165263
NM_000051.4(ATM):c.6256T>A (p.Tyr2086Asn) rs2084781602
NM_000051.4(ATM):c.6256T>C (p.Tyr2086His) rs2084781602
NM_000051.4(ATM):c.6256_6258del (p.Tyr2086del)
NM_000051.4(ATM):c.6256_6261del (p.Tyr2086_Glu2087del) rs1555114670
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys) rs730881380
NM_000051.4(ATM):c.6260A>C (p.Glu2087Ala)
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6262A>G (p.Asn2088Asp) rs1205444700
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser) rs2084783116
NM_000051.4(ATM):c.6267A>C (p.Lys2089Asn) rs863224577
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn) rs915524411
NM_000051.4(ATM):c.6268G>T (p.Asp2090Tyr) rs915524411
NM_000051.4(ATM):c.6269A>C (p.Asp2090Ala) rs1555114696
NM_000051.4(ATM):c.6271T>A (p.Trp2091Arg) rs2084784301
NM_000051.4(ATM):c.6271T>C (p.Trp2091Arg) rs2084784301
NM_000051.4(ATM):c.6271T>G (p.Trp2091Gly) rs2084784301
NM_000051.4(ATM):c.6275G>T (p.Cys2092Phe)
NM_000051.4(ATM):c.6280G>A (p.Glu2094Lys) rs1565503182
NM_000051.4(ATM):c.6283C>A (p.Leu2095Ile)
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del) rs1565503206
NM_000051.4(ATM):c.6286GAA[1] (p.Glu2097del)
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly) rs1565503246
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6293T>G (p.Leu2098Arg) rs587780631
NM_000051.4(ATM):c.6295C>G (p.His2099Asp) rs2084787307
NM_000051.4(ATM):c.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.6301C>A (p.Gln2101Lys) rs876660164
NM_000051.4(ATM):c.6301C>G (p.Gln2101Glu) rs876660164
NM_000051.4(ATM):c.6302A>C (p.Gln2101Pro) rs1565503316
NM_000051.4(ATM):c.6303A>G (p.Gln2101=) rs876659325
NM_000051.4(ATM):c.6304G>T (p.Ala2102Ser) rs1565503340
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val) rs1591790037
NM_000051.4(ATM):c.6310T>C (p.Trp2104Arg)
NM_000051.4(ATM):c.6310T>G (p.Trp2104Gly)
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser) rs1064794143
NM_000051.4(ATM):c.6312G>C (p.Trp2104Cys)
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly) rs879253983
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile) rs587780633
NM_000051.4(ATM):c.631G>A (p.Asp211Asn) rs1555066481
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr) rs1555114792
NM_000051.4(ATM):c.6321G>A (p.Met2107Ile) rs765763407
NM_000051.4(ATM):c.6321G>C (p.Met2107Ile)
NM_000051.4(ATM):c.6323A>C (p.Gln2108Pro) rs773891864
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg) rs773891864
NM_000051.4(ATM):c.6323A>T (p.Gln2108Leu) rs773891864
NM_000051.4(ATM):c.6324G>T (p.Gln2108His) rs2136169496
NM_000051.4(ATM):c.6325T>C (p.Trp2109Arg) rs1060501654
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6328G>C (p.Asp2110His) rs2136169784
NM_000051.4(ATM):c.6330C>G (p.Asp2110Glu) rs759029705
NM_000051.4(ATM):c.6332A>C (p.His2111Pro) rs876658300
NM_000051.4(ATM):c.6333_6341dup (p.Ser2114_Val2115insCysThrSer) rs2084792995
NM_000051.4(ATM):c.6334T>A (p.Cys2112Ser) rs2136170176
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr) rs1591790360
NM_000051.4(ATM):c.6335G>T (p.Cys2112Phe) rs1591790360
NM_000051.4(ATM):c.6337A>C (p.Thr2113Pro)
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
NM_000051.4(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.6341C>A (p.Ser2114Tyr) rs1591790425
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.4(ATM):c.6345_6347+7dup rs2136170862
NM_000051.4(ATM):c.6346A>C (p.Ser2116Arg) rs2084794474
NM_000051.4(ATM):c.6347+3A>G rs1555114854
NM_000051.4(ATM):c.6347+4A>G rs1342227995
NM_000051.4(ATM):c.6349A>G (p.Lys2117Glu)
NM_000051.4(ATM):c.6350AAG[1] (p.Glu2118del) rs2085076333
NM_000051.4(ATM):c.6353A>T (p.Glu2118Val) rs2136218659
NM_000051.4(ATM):c.6355G>A (p.Val2119Ile)
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6359A>G (p.Glu2120Gly) rs1591099714
NM_000051.4(ATM):c.635T>C (p.Phe212Ser) rs1591500544
NM_000051.4(ATM):c.6360A>T (p.Glu2120Asp) rs1565508657
NM_000051.4(ATM):c.6365C>T (p.Thr2122Ile)
NM_000051.4(ATM):c.6367A>C (p.Ser2123Arg)
NM_000051.4(ATM):c.6368G>C (p.Ser2123Thr) rs1064794104
NM_000051.4(ATM):c.6371A>G (p.Tyr2124Cys)
NM_000051.4(ATM):c.6374A>T (p.His2125Leu) rs730881381
NM_000051.4(ATM):c.6383T>C (p.Leu2128Ser) rs1565508867
NM_000051.4(ATM):c.6384G>C (p.Leu2128Phe) rs1060501629
NM_000051.4(ATM):c.6384G>T (p.Leu2128Phe) rs1060501629
NM_000051.4(ATM):c.6385T>C (p.Tyr2129His) rs876658542
NM_000051.4(ATM):c.6388A>C (p.Asn2130His) rs2085081321
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser) rs2136220181
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) rs1060501594
NM_000051.4(ATM):c.6394C>G (p.Leu2132Val) rs551408889
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro) rs758446561
NM_000051.4(ATM):c.6403C>G (p.Leu2135Val) rs2085083391
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro) rs1591100266
NM_000051.4(ATM):c.6407G>A (p.Arg2136Lys) rs2085084255
NM_000051.4(ATM):c.6409G>C (p.Asp2137His) rs1389038955
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu) rs1397647612
NM_000051.4(ATM):c.6420C>G (p.Phe2140Leu) rs587780635
NM_000051.4(ATM):c.6422C>G (p.Ser2141Cys)
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6425C>T (p.Thr2142Ile) rs1809463261
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys) rs1555116507
NM_000051.4(ATM):c.6434A>C (p.Glu2145Ala) rs1255710647
NM_000051.4(ATM):c.6436A>G (p.Ser2146Gly) rs2136222103
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn) rs56815840
NM_000051.4(ATM):c.6438T>A (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6438T>G (p.Ser2146Arg) rs748544160
NM_000051.4(ATM):c.6439C>G (p.Leu2147Val)
NM_000051.4(ATM):c.643A>G (p.Lys215Glu) rs2079708238
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr) rs730881382
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.4(ATM):c.6444A>G (p.Lys2148=) rs2136222477
NM_000051.4(ATM):c.6446A>G (p.Tyr2149Cys)
NM_000051.4(ATM):c.6448G>A (p.Ala2150Thr) rs1591100678
NM_000051.4(ATM):c.6449C>T (p.Ala2150Val) rs2136222623
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
NM_000051.4(ATM):c.6452+20T>G
NM_000051.4(ATM):c.6452+6A>G rs878853531
NM_000051.4(ATM):c.6452+6A>T rs878853531
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr) rs2136222746
NM_000051.4(ATM):c.6453-17_6453-16del
NM_000051.4(ATM):c.6453-3T>C rs768073845
NM_000051.4(ATM):c.6453-4C>G rs2085189849
NM_000051.4(ATM):c.6454G>A (p.Val2152Ile) rs753158040
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.6461A>T (p.Glu2154Val) rs2136238562
NM_000051.4(ATM):c.6463G>A (p.Val2155Met) rs2136238666
NM_000051.4(ATM):c.6464T>C (p.Val2155Ala) rs1060501532
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.4(ATM):c.6470A>G (p.Glu2157Gly) rs1591106982
NM_000051.4(ATM):c.6471G>C (p.Glu2157Asp) rs1555117097
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr) rs1453101465
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile) rs1565511084
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg) rs150408832
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp) rs587781789
NM_000051.4(ATM):c.647C>T (p.Ala216Val) rs2135227079
NM_000051.4(ATM):c.6481C>G (p.Arg2161Gly) rs1064793958
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys) rs1064793958
NM_000051.4(ATM):c.6484A>G (p.Ser2162Gly) rs2085194212
NM_000051.4(ATM):c.6485G>A (p.Ser2162Asn)
NM_000051.4(ATM):c.6486C>A (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg) rs138166710
NM_000051.4(ATM):c.6487C>G (p.Leu2163Val) rs1591107130
NM_000051.4(ATM):c.6488T>A (p.Leu2163His)
NM_000051.4(ATM):c.6488T>G (p.Leu2163Arg) rs779742477
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys) rs1317619286
NM_000051.4(ATM):c.6490G>C (p.Glu2164Gln) rs1317619286
NM_000051.4(ATM):c.6491A>C (p.Glu2164Ala) rs1591107186
NM_000051.4(ATM):c.6491A>G (p.Glu2164Gly) rs1591107186
NM_000051.4(ATM):c.6491A>T (p.Glu2164Val) rs1591107186
NM_000051.4(ATM):c.6492G>C (p.Glu2164Asp)
NM_000051.4(ATM):c.6492G>T (p.Glu2164Asp) rs2136239707
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6493T>C (p.Ser2165Pro)
NM_000051.4(ATM):c.6494C>T (p.Ser2165Phe) rs2085195776
NM_000051.4(ATM):c.649A>C (p.Ile217Leu) rs547045780
NM_000051.4(ATM):c.649A>T (p.Ile217Phe) rs547045780
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.64G>A (p.Glu22Lys)
NM_000051.4(ATM):c.6500A>T (p.Tyr2167Phe) rs768155385
NM_000051.4(ATM):c.6503C>G (p.Ser2168Trp) rs200431631
NM_000051.4(ATM):c.6505_6519del (p.Leu2169_Leu2173del) rs1555117162
NM_000051.4(ATM):c.6506T>A (p.Leu2169His)
NM_000051.4(ATM):c.6506T>C (p.Leu2169Pro) rs748054311
NM_000051.4(ATM):c.6506T>G (p.Leu2169Arg) rs748054311
NM_000051.4(ATM):c.6509A>C (p.Tyr2170Ser)
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys) rs1555117171
NM_000051.4(ATM):c.6515C>A (p.Thr2172Lys)
NM_000051.4(ATM):c.6517C>G (p.Leu2173Val) rs1565511354
NM_000051.4(ATM):c.6518T>A (p.Leu2173His) rs1173542225
NM_000051.4(ATM):c.6518T>G (p.Leu2173Arg)
NM_000051.4(ATM):c.6521G>A (p.Ser2174Asn) rs1470293148
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.4(ATM):c.6524G>A (p.Arg2175Lys) rs1555117188
NM_000051.4(ATM):c.6524G>C (p.Arg2175Thr) rs1555117188
NM_000051.4(ATM):c.6524G>T (p.Arg2175Met) rs1555117188
NM_000051.4(ATM):c.6525G>T (p.Arg2175Ser)
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp) rs1555117194
NM_000051.4(ATM):c.6529C>G (p.Gln2177Glu)
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro) rs1060501573
NM_000051.4(ATM):c.6530A>G (p.Gln2177Arg) rs1060501573
NM_000051.4(ATM):c.6535A>G (p.Ile2179Val) rs2136241829
NM_000051.4(ATM):c.653A>C (p.Gln218Pro) rs1198686265
NM_000051.4(ATM):c.653A>G (p.Gln218Arg) rs1198686265
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys) rs2136242185
NM_000051.4(ATM):c.6542A>G (p.Glu2181Gly) rs2085203449
NM_000051.4(ATM):c.6547G>A (p.Glu2183Lys) rs2085204408
NM_000051.4(ATM):c.6553A>T (p.Ile2185Phe) rs2085205198
NM_000051.4(ATM):c.6554T>G (p.Ile2185Ser) rs779611511
NM_000051.4(ATM):c.6558G>T (p.Gly2186=) rs1555117263
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.6562C>T (p.Leu2188Phe) rs1060501682
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly) rs587781861
NM_000051.4(ATM):c.6572+2dup
NM_000051.4(ATM):c.6572+3A>G rs778574672
NM_000051.4(ATM):c.6572G>A (p.Arg2191Lys) rs1196814221
NM_000051.4(ATM):c.6572G>C (p.Arg2191Thr) rs1196814221
NM_000051.4(ATM):c.6573A>G (p.Arg2191=) rs1565518004
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile) rs754555043
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)
NM_000051.4(ATM):c.6581C>T (p.Thr2194Ile) rs1476384636
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr) rs780946471
NM_000051.4(ATM):c.6584A>C (p.His2195Pro) rs1565518051
NM_000051.4(ATM):c.6584A>G (p.His2195Arg) rs1565518051
NM_000051.4(ATM):c.658G>A (p.Ala220Thr) rs2135227395
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
NM_000051.4(ATM):c.6590A>C (p.Gln2197Pro) rs1412850323
NM_000051.4(ATM):c.6596C>A (p.Ser2199Tyr) rs1591128462
NM_000051.4(ATM):c.6598G>A (p.Glu2200Lys) rs2085552425
NM_000051.4(ATM):c.659C>A (p.Ala220Glu)
NM_000051.4(ATM):c.6600A>G (p.Glu2200=) rs2136308135
NM_000051.4(ATM):c.6601G>C (p.Val2201Leu)
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala) rs876658435
NM_000051.4(ATM):c.6602_6610del (p.Val2201_Lys2204delinsGlu)
NM_000051.4(ATM):c.6604T>C (p.Tyr2202His) rs730881311
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr) rs2085553784
NM_000051.4(ATM):c.6610A>C (p.Lys2204Gln) rs2085553991
NM_000051.4(ATM):c.6613T>C (p.Trp2205Arg) rs755656958
NM_000051.4(ATM):c.6614G>C (p.Trp2205Ser)
NM_000051.4(ATM):c.6615G>C (p.Trp2205Cys) rs1555119041
NM_000051.4(ATM):c.6615G>T (p.Trp2205Cys) rs1555119041
NM_000051.4(ATM):c.6616C>G (p.Gln2206Glu) rs2085554912
NM_000051.4(ATM):c.6618G>C (p.Gln2206His) rs2085555121
NM_000051.4(ATM):c.661A>G (p.Arg221Gly) rs2135227474
NM_000051.4(ATM):c.662+3A>C
NM_000051.4(ATM):c.662+3A>G rs2135227609
NM_000051.4(ATM):c.662+4A>G rs1555066570
NM_000051.4(ATM):c.662+5T>C rs2079711059
NM_000051.4(ATM):c.662+6C>G rs1565369978
NM_000051.4(ATM):c.6620A>G (p.Lys2207Arg) rs1565518213
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.4(ATM):c.6624C>A (p.His2208Gln) rs2136309199
NM_000051.4(ATM):c.662G>A (p.Arg221Lys) rs776349773
NM_000051.4(ATM):c.663-12_663-9del
NM_000051.4(ATM):c.663-13T>C
NM_000051.4(ATM):c.663-3C>G rs2079752506
NM_000051.4(ATM):c.663-3C>T rs2079752506
NM_000051.4(ATM):c.6630G>C (p.Gln2210His)
NM_000051.4(ATM):c.6631C>T (p.Leu2211Phe) rs1555119051
NM_000051.4(ATM):c.6632T>C (p.Leu2211Pro)
NM_000051.4(ATM):c.6632T>G (p.Leu2211Arg) rs2136309652
NM_000051.4(ATM):c.6635T>C (p.Leu2212Pro)
NM_000051.4(ATM):c.663A>G (p.Arg221=) rs1555066913
NM_000051.4(ATM):c.663A>T (p.Arg221Ser) rs1555066913
NM_000051.4(ATM):c.6640G>T (p.Asp2214Tyr) rs1433554922
NM_000051.4(ATM):c.6643A>C (p.Ser2215Arg) rs730881312
NM_000051.4(ATM):c.6643A>G (p.Ser2215Gly) rs730881312
NM_000051.4(ATM):c.6644G>C (p.Ser2215Thr) rs1591128755
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg) rs1064794485
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn) rs1482691031
NM_000051.4(ATM):c.664C>G (p.Gln222Glu) rs1555066917
NM_000051.4(ATM):c.6652A>G (p.Ser2218Gly) rs749261367
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)
NM_000051.4(ATM):c.6655T>G (p.Phe2219Val) rs2136310909
NM_000051.4(ATM):c.6657T>G (p.Phe2219Leu) rs2085560685
NM_000051.4(ATM):c.665A>G (p.Gln222Arg)
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys) rs1591128898
NM_000051.4(ATM):c.6661G>C (p.Glu2221Gln) rs1591128898
NM_000051.4(ATM):c.6665C>A (p.Pro2222His) rs997021874
NM_000051.4(ATM):c.6665C>G (p.Pro2222Arg) rs997021874
NM_000051.4(ATM):c.6665C>T (p.Pro2222Leu)
NM_000051.4(ATM):c.6667A>C (p.Ile2223Leu) rs1028293945
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6670A>C (p.Met2224Leu) rs545873723
NM_000051.4(ATM):c.6672G>A (p.Met2224Ile) rs2136311974
NM_000051.4(ATM):c.6673G>A (p.Ala2225Thr) rs1555119121
NM_000051.4(ATM):c.6673G>T (p.Ala2225Ser)
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6680G>A (p.Arg2227His) rs879254132
NM_000051.4(ATM):c.6683C>A (p.Thr2228Lys) rs2085565666
NM_000051.4(ATM):c.6683C>T (p.Thr2228Ile)
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp) rs1555119144
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly) rs1555119144
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu) rs1385625521
NM_000051.4(ATM):c.6698T>C (p.Ile2233Thr) rs2136313236
NM_000051.4(ATM):c.6699C>G (p.Ile2233Met) rs1555119149
NM_000051.4(ATM):c.6701T>C (p.Leu2234Pro) rs1158183992
NM_000051.4(ATM):c.6704T>C (p.Met2235Thr)
NM_000051.4(ATM):c.6705G>T (p.Met2235Ile)
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg) rs35118109
NM_000051.4(ATM):c.6712G>A (p.Glu2238Lys) rs2136313885
NM_000051.4(ATM):c.6713A>C (p.Glu2238Ala) rs1591129372
NM_000051.4(ATM):c.6713A>T (p.Glu2238Val) rs1591129372
NM_000051.4(ATM):c.6715A>C (p.Met2239Leu) rs2085569409
NM_000051.4(ATM):c.6716T>C (p.Met2239Thr)
NM_000051.4(ATM):c.6717G>A (p.Met2239Ile) rs1555119181
NM_000051.4(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.4(ATM):c.6719A>G (p.Asp2240Gly)
NM_000051.4(ATM):c.6722A>C (p.Asn2241Thr) rs786202583
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.4(ATM):c.6724T>A (p.Ser2242Thr) rs1309164461
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro) rs1565518723
NM_000051.4(ATM):c.6728A>G (p.Gln2243Arg)
NM_000051.4(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.4(ATM):c.6731G>A (p.Arg2244Lys) rs2136315016
NM_000051.4(ATM):c.6731G>C (p.Arg2244Thr)
NM_000051.4(ATM):c.6733G>A (p.Glu2245Lys) rs2085572299
NM_000051.4(ATM):c.6733G>C (p.Glu2245Gln) rs2085572299
NM_000051.4(ATM):c.6737G>A (p.Cys2246Tyr) rs2085573174
NM_000051.4(ATM):c.6739A>C (p.Ile2247Leu) rs587781521
NM_000051.4(ATM):c.673A>C (p.Ser225Arg) rs2079753846
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu) rs1555119232
NM_000051.4(ATM):c.6743A>C (p.Lys2248Thr) rs1591129646
NM_000051.4(ATM):c.6745G>A (p.Asp2249Asn) rs1555119235
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr) rs1555119235
NM_000051.4(ATM):c.6746A>G (p.Asp2249Gly) rs1277367898
NM_000051.4(ATM):c.6746A>T (p.Asp2249Val) rs1277367898
NM_000051.4(ATM):c.6751C>G (p.Leu2251Val) rs2085575228
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro) rs1262434611
NM_000051.4(ATM):c.6755C>A (p.Thr2252Asn) rs755531586
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser) rs755531586
NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln) rs863224578
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu) rs863224578
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.675C>A (p.Ser225Arg) rs1555066940
NM_000051.4(ATM):c.6760C>T (p.His2254Tyr) rs2136316772
NM_000051.4(ATM):c.6761A>C (p.His2254Pro) rs1565518950
NM_000051.4(ATM):c.6763C>T (p.Leu2255Phe) rs2085578159
NM_000051.4(ATM):c.6764T>C (p.Leu2255Pro)
NM_000051.4(ATM):c.6766G>A (p.Val2256Ile) rs1565519006
NM_000051.4(ATM):c.6767T>C (p.Val2256Ala) rs2136317245
NM_000051.4(ATM):c.6771A>T (p.Glu2257Asp) rs2085579349
NM_000051.4(ATM):c.6773T>A (p.Leu2258His) rs2136317561
NM_000051.4(ATM):c.6776C>A (p.Ser2259Tyr)
NM_000051.4(ATM):c.6776C>G (p.Ser2259Cys) rs786202094
NM_000051.4(ATM):c.6778A>T (p.Ile2260Leu)
NM_000051.4(ATM):c.6779T>C (p.Ile2260Thr)
NM_000051.4(ATM):c.677C>G (p.Ser226Cys)
NM_000051.4(ATM):c.677C>T (p.Ser226Phe) rs2079754211
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met) rs1555119325
NM_000051.4(ATM):c.6781C>G (p.Leu2261Val) rs757243222
NM_000051.4(ATM):c.6785C>A (p.Ala2262Asp) rs876660017
NM_000051.4(ATM):c.6786_6791del (p.Arg2263_Thr2264del) rs1565519112
NM_000051.4(ATM):c.6788G>A (p.Arg2263Lys)
NM_000051.4(ATM):c.6791C>G (p.Thr2264Ser)
NM_000051.4(ATM):c.6791C>T (p.Thr2264Ile) rs1468747245
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys) rs1179172483
NM_000051.4(ATM):c.6795C>A (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg) rs1591130168
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000051.4(ATM):c.6800A>G (p.Asn2267Ser) rs972348231
NM_000051.4(ATM):c.6800A>T (p.Asn2267Ile)
NM_000051.4(ATM):c.6802A>G (p.Thr2268Ala) rs1391132040
NM_000051.4(ATM):c.6802A>T (p.Thr2268Ser) rs1391132040
NM_000051.4(ATM):c.6805C>A (p.Gln2269Lys) rs2085584895
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu) rs2085584895
NM_000051.4(ATM):c.6807+15A>G
NM_000051.4(ATM):c.6807+2_6807+3insTCTTG
NM_000051.4(ATM):c.6807+4A>G rs1555119382
NM_000051.4(ATM):c.6808-3C>G rs2085644636
NM_000051.4(ATM):c.6808C>T (p.Leu2270Phe) rs2085645038
NM_000051.4(ATM):c.6811C>T (p.Pro2271Ser) rs1591133084
NM_000051.4(ATM):c.6812C>T (p.Pro2271Leu)
NM_000051.4(ATM):c.6815A>C (p.Glu2272Ala) rs1565520129
NM_000051.4(ATM):c.6817A>G (p.Arg2273Gly)
NM_000051.4(ATM):c.6820G>T (p.Ala2274Ser) rs567060474
NM_000051.4(ATM):c.6820_6821delinsAT (p.Ala2274Ile)
NM_000051.4(ATM):c.6821C>G (p.Ala2274Gly)
NM_000051.4(ATM):c.6821C>T (p.Ala2274Val) rs2085647482
NM_000051.4(ATM):c.6823A>C (p.Ile2275Leu) rs587779857
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr) rs1283858462
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met) rs1591133274
NM_000051.4(ATM):c.6827T>G (p.Phe2276Cys) rs753389616
NM_000051.4(ATM):c.6828T>A (p.Phe2276Leu) rs1225138469
NM_000051.4(ATM):c.6831A>T (p.Gln2277His) rs1339794219
NM_000051.4(ATM):c.6832A>C (p.Ile2278Leu) rs2085649125
NM_000051.4(ATM):c.6839A>G (p.Gln2280Arg) rs1555119779
NM_000051.4(ATM):c.683G>A (p.Gly228Asp) rs2079754821
NM_000051.4(ATM):c.683G>C (p.Gly228Ala) rs2079754821
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His) rs1291249685
NM_000051.4(ATM):c.6842A>G (p.Tyr2281Cys) rs2136332870
NM_000051.4(ATM):c.6844A>G (p.Asn2282Asp) rs951881516
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser) rs863224579
NM_000051.4(ATM):c.6847T>G (p.Ser2283Ala)
NM_000051.4(ATM):c.6850G>T (p.Val2284Phe) rs2085651553
NM_000051.4(ATM):c.6851T>C (p.Val2284Ala) rs2136333421
NM_000051.4(ATM):c.6857G>A (p.Cys2286Tyr) rs786203052
NM_000051.4(ATM):c.6857G>T (p.Cys2286Phe) rs786203052
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg) rs1181779478
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6863T>A (p.Val2288Asp) rs1591133559
NM_000051.4(ATM):c.6865T>C (p.Ser2289Pro) rs2085653356
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln) rs1479339581
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala) rs1555119842
NM_000051.4(ATM):c.6871T>C (p.Trp2291Arg) rs746815819
NM_000051.4(ATM):c.6871T>G (p.Trp2291Gly)
NM_000051.4(ATM):c.6873G>C (p.Trp2291Cys) rs2136334606
NM_000051.4(ATM):c.6874C>G (p.Gln2292Glu)
NM_000051.4(ATM):c.6875A>T (p.Gln2292Leu)
NM_000051.4(ATM):c.6877C>A (p.Leu2293Met)
NM_000051.4(ATM):c.6878T>A (p.Leu2293Gln)
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro) rs1450429233
NM_000051.4(ATM):c.6883G>A (p.Glu2295Lys)
NM_000051.4(ATM):c.6885A>C (p.Glu2295Asp)
NM_000051.4(ATM):c.6886G>A (p.Ala2296Thr) rs2085656079
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.4(ATM):c.6893T>C (p.Val2298Ala) rs1565520607
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.689A>G (p.Asn230Ser) rs876659494
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.68G>C (p.Arg23Pro) rs587779858
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys) rs1591133875
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr) rs1060501668
NM_000051.4(ATM):c.6901G>C (p.Ala2301Pro) rs1060501668
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
NM_000051.4(ATM):c.6904A>G (p.Lys2302Glu) rs2085658893
NM_000051.4(ATM):c.6908A>T (p.Lys2303Met) rs1064795166
NM_000051.4(ATM):c.6911A>G (p.Glu2304Gly)
NM_000051.4(ATM):c.6912G>C (p.Glu2304Asp) rs771382172
NM_000051.4(ATM):c.6919C>G (p.Leu2307Val) rs56009889
NM_000051.4(ATM):c.691C>G (p.His231Asp) rs1460757633
NM_000051.4(ATM):c.6920T>A (p.Leu2307His) rs2085661534
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr) rs1591134072
NM_000051.4(ATM):c.6922G>T (p.Ala2308Ser) rs1591134072
NM_000051.4(ATM):c.6923C>T (p.Ala2308Val) rs876658454
NM_000051.4(ATM):c.6928A>G (p.Ser2310Gly) rs572301723
NM_000051.4(ATM):c.6928A>T (p.Ser2310Cys)
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.6931A>T (p.Ile2311Phe)
NM_000051.4(ATM):c.6935T>A (p.Leu2312His)
NM_000051.4(ATM):c.6935T>C (p.Leu2312Pro) rs761352263
NM_000051.4(ATM):c.6941A>G (p.Gln2314Arg)
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile) rs1555120014
NM_000051.4(ATM):c.6946A>T (p.Ile2316Phe) rs2136338816
NM_000051.4(ATM):c.6947T>A (p.Ile2316Asn) rs1591134289
NM_000051.4(ATM):c.6947T>C (p.Ile2316Thr) rs1591134289
NM_000051.4(ATM):c.694A>G (p.Ile232Val) rs767739747
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6955T>A (p.Leu2319Met) rs1555120047
NM_000051.4(ATM):c.6956T>C (p.Leu2319Ser) rs1555120049
NM_000051.4(ATM):c.6956T>G (p.Leu2319Trp) rs1555120049
NM_000051.4(ATM):c.6958G>T (p.Asp2320Tyr) rs1565521026
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly) rs1060501640
NM_000051.4(ATM):c.695T>A (p.Ile232Asn)
NM_000051.4(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.4(ATM):c.695T>G (p.Ile232Ser) rs786203502
NM_000051.4(ATM):c.6961G>C (p.Ala2321Pro) rs1060501538
NM_000051.4(ATM):c.6962C>A (p.Ala2321Asp) rs1383763069
NM_000051.4(ATM):c.6965G>A (p.Ser2322Asn) rs876659183
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr) rs876660924
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe) rs876660924
NM_000051.4(ATM):c.696C>G (p.Ile232Met) rs1591503507
NM_000051.4(ATM):c.6970G>T (p.Ala2324Ser)
NM_000051.4(ATM):c.6971C>T (p.Ala2324Val) rs2136340286
NM_000051.4(ATM):c.6975+4T>A rs876660240
NM_000051.4(ATM):c.6975+4del
NM_000051.4(ATM):c.6975+5G>C rs575354684
NM_000051.4(ATM):c.6975+5_6975+6del rs1064794094
NM_000051.4(ATM):c.6975+5_6975+8del rs1565521135
NM_000051.4(ATM):c.6975+6T>C rs1169579742
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>T (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-3C>G rs898003667
NM_000051.4(ATM):c.6976-3_6976-2insT rs1060501533
NM_000051.4(ATM):c.6976-5T>G
NM_000051.4(ATM):c.6976-7T>A rs2085807343
NM_000051.4(ATM):c.6976-9del rs2136372040
NM_000051.4(ATM):c.6979A>G (p.Asn2327Asp) rs2085809640
NM_000051.4(ATM):c.6982C>G (p.Pro2328Ala) rs769606850
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6986G>C (p.Ser2329Thr) rs2085810826
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6994C>G (p.Leu2332Val) rs762427092
NM_000051.4(ATM):c.6994C>T (p.Leu2332Phe) rs762427092
NM_000051.4(ATM):c.6995T>G (p.Leu2332Arg) rs4988111
NM_000051.4(ATM):c.6998C>G (p.Thr2333Arg) rs150503164
NM_000051.4(ATM):c.699A>T (p.Leu233Phe) rs1555067006
NM_000051.4(ATM):c.6T>A (p.Ser2Arg) rs748158168
NM_000051.4(ATM):c.7000T>A (p.Tyr2334Asn)
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His) rs1064793312
NM_000051.4(ATM):c.7001A>G (p.Tyr2334Cys) rs879254258
NM_000051.4(ATM):c.7003A>C (p.Thr2335Pro) rs1555120970
NM_000051.4(ATM):c.7009T>C (p.Cys2337Arg) rs2136374685
NM_000051.4(ATM):c.700G>T (p.Ala234Ser)
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr) rs876658563
NM_000051.4(ATM):c.7010G>T (p.Cys2337Phe)
NM_000051.4(ATM):c.7011T>G (p.Cys2337Trp) rs878853536
NM_000051.4(ATM):c.7012C>G (p.Leu2338Val) rs1555120990
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile) rs876659429
NM_000051.4(ATM):c.701C>T (p.Ala234Val)
NM_000051.4(ATM):c.7024G>A (p.Gly2342Ser) rs1555121015
NM_000051.4(ATM):c.7024G>T (p.Gly2342Cys) rs1555121015
NM_000051.4(ATM):c.7033T>G (p.Leu2345Val) rs1555121048
NM_000051.4(ATM):c.7034T>C (p.Leu2345Ser) rs2136376523
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr) rs144497088
NM_000051.4(ATM):c.7036G>C (p.Ala2346Pro) rs144497088
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val) rs2085819145
NM_000051.4(ATM):c.7039_7041dup (p.Glu2347_Thr2348insGlu) rs2085819624
NM_000051.4(ATM):c.703G>C (p.Ala235Pro) rs76379269
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met) rs866740291
NM_000051.4(ATM):c.7046G>T (p.Cys2349Phe) rs1223489931
NM_000051.4(ATM):c.7052A>G (p.Glu2351Gly) rs1591142696
NM_000051.4(ATM):c.7057C>A (p.Pro2353Thr) rs1591142717
NM_000051.4(ATM):c.7057C>G (p.Pro2353Ala) rs1591142717
NM_000051.4(ATM):c.7058C>G (p.Pro2353Arg)
NM_000051.4(ATM):c.7058C>T (p.Pro2353Leu) rs2136377844
NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr) rs1591142727
NM_000051.4(ATM):c.7061C>A (p.Ala2354Glu) rs1555121079
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp) rs1197214197
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val) rs876658517
NM_000051.4(ATM):c.7067T>C (p.Ile2356Thr)
NM_000051.4(ATM):c.706C>G (p.Leu236Val) rs886042866
NM_000051.4(ATM):c.706C>T (p.Leu236Phe) rs886042866
NM_000051.4(ATM):c.7070T>A (p.Met2357Lys)
NM_000051.4(ATM):c.7070T>C (p.Met2357Thr) rs1591142855
NM_000051.4(ATM):c.7070_7072dup (p.Met2357_Gln2358insLeu) rs1591142874
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile) rs753951063
NM_000051.4(ATM):c.7074G>T (p.Gln2358His) rs1060501593
NM_000051.4(ATM):c.7075A>T (p.Thr2359Ser) rs2136378938
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn) rs730881314
NM_000051.4(ATM):c.7076C>T (p.Thr2359Ile) rs730881314
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His) rs587779860
NM_000051.4(ATM):c.7079A>G (p.Tyr2360Cys) rs1555121141
NM_000051.4(ATM):c.7079A>T (p.Tyr2360Phe)
NM_000051.4(ATM):c.707T>A (p.Leu236His) rs876659813
NM_000051.4(ATM):c.707T>G (p.Leu236Arg) rs876659813
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile) rs1412288141
NM_000051.4(ATM):c.7081C>G (p.Leu2361Val) rs1412288141
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro) rs1169558907
NM_000051.4(ATM):c.7085A>G (p.Glu2362Gly) rs1479883295
NM_000051.4(ATM):c.7089+3A>G rs1565524203
NM_000051.4(ATM):c.7089+4A>C rs2136380076
NM_000051.4(ATM):c.7089+5G>A rs1351209504
NM_000051.4(ATM):c.7089+5G>T
NM_000051.4(ATM):c.7090-13T>A
NM_000051.4(ATM):c.7090-6_7090-5del rs2136409409
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro) rs759439613
NM_000051.4(ATM):c.7091C>T (p.Ala2364Val) rs1555121919
NM_000051.4(ATM):c.7093G>A (p.Val2365Ile) rs1591150377
NM_000051.4(ATM):c.7094T>A (p.Val2365Glu) rs2136410055
NM_000051.4(ATM):c.7096G>A (p.Glu2366Lys) rs587781672
NM_000051.4(ATM):c.7096G>C (p.Glu2366Gln)
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile) rs1060501647
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu) rs1060501647
NM_000051.4(ATM):c.709A>T (p.Thr237Ser) rs376529329
NM_000051.4(ATM):c.7100T>C (p.Val2367Ala)
NM_000051.4(ATM):c.7102G>T (p.Ala2368Ser)
NM_000051.4(ATM):c.7103C>G (p.Ala2368Gly) rs1591150471
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu) rs2085974792
NM_000051.4(ATM):c.710C>T (p.Thr237Ile)
NM_000051.4(ATM):c.710_721del (p.Thr237_Leu240del)
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp) rs1555121956
NM_000051.4(ATM):c.7112A>G (p.Tyr2371Cys) rs1565526394
NM_000051.4(ATM):c.7112A>T (p.Tyr2371Phe) rs1565526394
NM_000051.4(ATM):c.7112ATG[1] (p.Asp2372del)
NM_000051.4(ATM):c.7115A>G (p.Asp2372Gly) rs2085976203
NM_000051.4(ATM):c.7115A>T (p.Asp2372Val) rs2085976203
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala) rs587782225
NM_000051.4(ATM):c.7122A>T (p.Glu2374Asp) rs376159946
NM_000051.4(ATM):c.7123A>C (p.Ser2375Arg) rs2085977071
NM_000051.4(ATM):c.7123A>G (p.Ser2375Gly) rs2085977071
NM_000051.4(ATM):c.7124G>A (p.Ser2375Asn) rs1297882250
NM_000051.4(ATM):c.7129G>T (p.Asp2377Tyr) rs1555122008
NM_000051.4(ATM):c.712A>T (p.Ile238Phe)
NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)
NM_000051.4(ATM):c.713T>A (p.Ile238Asn) rs149116878
NM_000051.4(ATM):c.7145G>A (p.Gly2382Glu)
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala) rs1060501639
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr) rs1215010771
NM_000051.4(ATM):c.7156G>A (p.Ala2386Thr)
NM_000051.4(ATM):c.7157C>G (p.Ala2386Gly) rs786203697
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu) rs1018140779
NM_000051.4(ATM):c.7168_7170del (p.Leu2390del)
NM_000051.4(ATM):c.7169T>C (p.Leu2390Ser)
NM_000051.4(ATM):c.7171G>A (p.Ala2391Thr) rs2136415110
NM_000051.4(ATM):c.7172C>T (p.Ala2391Val) rs2085981550
NM_000051.4(ATM):c.7175G>A (p.Arg2392Gln) rs876659083
NM_000051.4(ATM):c.7175G>C (p.Arg2392Pro) rs876659083
NM_000051.4(ATM):c.7175G>T (p.Arg2392Leu) rs876659083
NM_000051.4(ATM):c.7177T>C (p.Phe2393Leu)
NM_000051.4(ATM):c.7178T>C (p.Phe2393Ser)
NM_000051.4(ATM):c.7178T>G (p.Phe2393Cys) rs1555122073
NM_000051.4(ATM):c.7179T>A (p.Phe2393Leu) rs1057520430
NM_000051.4(ATM):c.7179T>G (p.Phe2393Leu) rs1057520430
NM_000051.4(ATM):c.7183G>A (p.Asp2395Asn) rs2085983049
NM_000051.4(ATM):c.7184A>G (p.Asp2395Gly) rs1555122090
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.4(ATM):c.7190A>C (p.Gln2397Pro) rs1060501592
NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg) rs1060501592
NM_000051.4(ATM):c.7190A>T (p.Gln2397Leu) rs1060501592
NM_000051.4(ATM):c.7193A>G (p.Tyr2398Cys) rs1591151173
NM_000051.4(ATM):c.7195C>A (p.Gln2399Lys) rs2085985186
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu) rs2085985186
NM_000051.4(ATM):c.7196A>G (p.Gln2399Arg) rs1565526758
NM_000051.4(ATM):c.719T>G (p.Leu240Arg) rs876658753
NM_000051.4(ATM):c.71A>T (p.Lys24Met) rs1060501710
NM_000051.4(ATM):c.72+3A>C rs2135007098
NM_000051.4(ATM):c.72+4G>A rs1458884973
NM_000051.4(ATM):c.7200A>G (p.Arg2400=) rs1060501534
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val) rs1565526813
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.4(ATM):c.7204G>C (p.Glu2402Gln)
NM_000051.4(ATM):c.7210T>C (p.Tyr2404His)
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys) rs1064794093
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu) rs587781323
NM_000051.4(ATM):c.7213A>T (p.Met2405Leu) rs587781323
NM_000051.4(ATM):c.7215G>A (p.Met2405Ile) rs879254179
NM_000051.4(ATM):c.7217A>G (p.Lys2406Arg)
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.7222T>A (p.Ser2408Thr)
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp) rs730881315
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.4(ATM):c.7228T>G (p.Phe2410Val)
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser) rs758351633
NM_000051.4(ATM):c.7230T>G (p.Phe2410Leu) rs1565527030
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr) rs786203311
NM_000051.4(ATM):c.7238A>G (p.Lys2413Arg)
NM_000051.4(ATM):c.7239G>T (p.Lys2413Asn) rs1555122182
NM_000051.4(ATM):c.7241A>G (p.Gln2414Arg)
NM_000051.4(ATM):c.7242A>T (p.Gln2414His) rs761907546
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val) rs370567994
NM_000051.4(ATM):c.7246C>T (p.Leu2416Phe) rs1060501615
NM_000051.4(ATM):c.724A>G (p.Thr242Ala) rs1555067068
NM_000051.4(ATM):c.7250T>C (p.Leu2417Pro) rs1591151788
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr) rs1565527146
NM_000051.4(ATM):c.725C>A (p.Thr242Asn) rs2135238871
NM_000051.4(ATM):c.7261A>G (p.Lys2421Glu) rs1555122220
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.4(ATM):c.7262A>G (p.Lys2421Arg) rs1360453074
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly) rs758614348
NM_000051.4(ATM):c.7267G>A (p.Glu2423Lys) rs1555122245
NM_000051.4(ATM):c.7268A>C (p.Glu2423Ala)
NM_000051.4(ATM):c.7268A>G (p.Glu2423Gly) rs121434221
NM_000051.4(ATM):c.7269A>C (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7271T>A (p.Val2424Glu) rs28904921
NM_000051.4(ATM):c.7271T>C (p.Val2424Ala) rs28904921
NM_000051.4(ATM):c.7274G>A (p.Gly2425Asp) rs148949644
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val) rs148949644
NM_000051.4(ATM):c.7276C>T (p.Leu2426Phe)
NM_000051.4(ATM):c.7277T>C (p.Leu2426Pro) rs1591152164
NM_000051.4(ATM):c.7280T>C (p.Leu2427Pro) rs1555122272
NM_000051.4(ATM):c.7280T>G (p.Leu2427Arg) rs1555122272
NM_000051.4(ATM):c.7282A>G (p.Arg2428Gly) rs1555122281
NM_000051.4(ATM):c.7283G>A (p.Arg2428Lys) rs2085999795
NM_000051.4(ATM):c.7288C>A (p.His2430Asn) rs2086000435
NM_000051.4(ATM):c.7288C>G (p.His2430Asp) rs2086000435
NM_000051.4(ATM):c.7288C>T (p.His2430Tyr) rs2086000435
NM_000051.4(ATM):c.7289A>C (p.His2430Pro)
NM_000051.4(ATM):c.7289A>T (p.His2430Leu)
NM_000051.4(ATM):c.7290T>A (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7290T>G (p.His2430Gln) rs876658715
NM_000051.4(ATM):c.7292A>T (p.Lys2431Ile)
NM_000051.4(ATM):c.7294A>G (p.Ile2432Val) rs587781838
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.4(ATM):c.7295T>A (p.Ile2432Asn) rs2086001580
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu) rs1591152450
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.73-3del rs1565344403
NM_000051.4(ATM):c.7301C>T (p.Thr2434Ile) rs2136423951
NM_000051.4(ATM):c.7303A>G (p.Asn2435Asp) rs1555122326
NM_000051.4(ATM):c.7305C>G (p.Asn2435Lys) rs1160508407
NM_000051.4(ATM):c.7307+13C>G
NM_000051.4(ATM):c.7307+3A>C rs1565527512
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7307+4A>T rs730881316
NM_000051.4(ATM):c.7307+5C>A
NM_000051.4(ATM):c.7307+5C>T rs2086005523
NM_000051.4(ATM):c.7307+6T>A rs2136424824
NM_000051.4(ATM):c.7307+8G>A
NM_000051.4(ATM):c.7308-6T>C rs574836628
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser) rs730881317
NM_000051.4(ATM):c.7309T>A (p.Tyr2437Asn) rs1565529213
NM_000051.4(ATM):c.7309T>C (p.Tyr2437His) rs1565529213
NM_000051.4(ATM):c.730G>A (p.Ala244Thr) rs2079760518
NM_000051.4(ATM):c.730G>C (p.Ala244Pro) rs2079760518
NM_000051.4(ATM):c.7310A>G (p.Tyr2437Cys) rs1555122944
NM_000051.4(ATM):c.7310A>T (p.Tyr2437Phe)
NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro) rs1565529248
NM_000051.4(ATM):c.7312A>G (p.Thr2438Ala)
NM_000051.4(ATM):c.7313C>A (p.Thr2438Lys) rs147604227
NM_000051.4(ATM):c.7313C>G (p.Thr2438Arg) rs147604227
NM_000051.4(ATM):c.7315G>C (p.Val2439Leu) rs1591159702
NM_000051.4(ATM):c.7316T>G (p.Val2439Gly) rs776266049
NM_000051.4(ATM):c.7316_7317insTAT (p.Val2439_Lys2440insIle) rs2086111568
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu) rs1565529306
NM_000051.4(ATM):c.7320G>T (p.Lys2440Asn) rs751537332
NM_000051.4(ATM):c.7321G>T (p.Val2441Phe) rs876659556
NM_000051.4(ATM):c.7322T>A (p.Val2441Asp)
NM_000051.4(ATM):c.7322T>G (p.Val2441Gly) rs765548443
NM_000051.4(ATM):c.7323_7334del (p.Gln2442_Leu2445del)
NM_000051.4(ATM):c.7325A>G (p.Gln2442Arg) rs1591159790
NM_000051.4(ATM):c.7326G>C (p.Gln2442His) rs1555122970
NM_000051.4(ATM):c.7326G>T (p.Gln2442His) rs1555122970
NM_000051.4(ATM):c.7327C>G (p.Arg2443Gly) rs121434220
NM_000051.4(ATM):c.7328G>C (p.Arg2443Pro) rs587782310
NM_000051.4(ATM):c.7328G>T (p.Arg2443Leu) rs587782310
NM_000051.4(ATM):c.7328_7331inv (p.Arg2443_Glu2444delinsLeuSer)
NM_000051.4(ATM):c.7330G>A (p.Glu2444Lys) rs2136453151
NM_000051.4(ATM):c.7331A>C (p.Glu2444Ala) rs879254245
NM_000051.4(ATM):c.7331A>G (p.Glu2444Gly) rs879254245
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp) rs876658886
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln) rs1555122992
NM_000051.4(ATM):c.7334T>C (p.Leu2445Pro) rs1555122992
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly) rs1555122998
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val) rs1591159997
NM_000051.4(ATM):c.733G>A (p.Val245Ile) rs1555067081
NM_000051.4(ATM):c.7340T>C (p.Leu2447Ser) rs2136453754
NM_000051.4(ATM):c.7340T>G (p.Leu2447Trp)
NM_000051.4(ATM):c.7341G>C (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7341G>T (p.Leu2447Phe) rs2136453829
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn) rs1591160022
NM_000051.4(ATM):c.7342G>C (p.Asp2448His) rs1591160022
NM_000051.4(ATM):c.7343A>G (p.Asp2448Gly) rs1275267580
NM_000051.4(ATM):c.7343A>T (p.Asp2448Val)
NM_000051.4(ATM):c.7345G>C (p.Glu2449Gln)
NM_000051.4(ATM):c.7346A>C (p.Glu2449Ala) rs1555123004
NM_000051.4(ATM):c.7346A>G (p.Glu2449Gly) rs1555123004
NM_000051.4(ATM):c.7347A>C (p.Glu2449Asp)
NM_000051.4(ATM):c.7348T>G (p.Leu2450Val) rs766586514
NM_000051.4(ATM):c.7349_7351del (p.Leu2450_Ala2451delinsSer)
NM_000051.4(ATM):c.7351G>A (p.Ala2451Thr) rs587779862
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro) rs587779862
NM_000051.4(ATM):c.7351G>T (p.Ala2451Ser) rs587779862
NM_000051.4(ATM):c.7352C>T (p.Ala2451Val) rs2086116043
NM_000051.4(ATM):c.7355T>A (p.Leu2452Gln) rs1555123032
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7355T>G (p.Leu2452Arg) rs1555123032
NM_000051.4(ATM):c.7357_7365del (p.Arg2453_Leu2455del)
NM_000051.4(ATM):c.7358G>C (p.Arg2453Pro) rs587781361
NM_000051.4(ATM):c.7360G>C (p.Ala2454Pro) rs1565529541
NM_000051.4(ATM):c.7361C>A (p.Ala2454Glu) rs2086118064
NM_000051.4(ATM):c.7364T>A (p.Leu2455Gln) rs1555123056
NM_000051.4(ATM):c.7364T>C (p.Leu2455Pro) rs1555123056
NM_000051.4(ATM):c.7364T>G (p.Leu2455Arg) rs1555123056
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val) rs879254201
NM_000051.4(ATM):c.7374T>A (p.Asp2458Glu)
NM_000051.4(ATM):c.7375C>A (p.Arg2459Ser) rs730881383
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7376G>A (p.Arg2459His) rs1064796589
NM_000051.4(ATM):c.7376G>C (p.Arg2459Pro)
NM_000051.4(ATM):c.737A>C (p.Asn246Thr) rs781023264
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.7381C>G (p.Arg2461Gly)
NM_000051.4(ATM):c.7382G>C (p.Arg2461Pro) rs768461085
NM_000051.4(ATM):c.7384T>C (p.Phe2462Leu) rs878853543
NM_000051.4(ATM):c.7384T>G (p.Phe2462Val) rs878853543
NM_000051.4(ATM):c.7386C>G (p.Phe2462Leu) rs2136456889
NM_000051.4(ATM):c.7389A>T (p.Leu2463Phe)
NM_000051.4(ATM):c.7390T>G (p.Cys2464Gly) rs55801750
NM_000051.4(ATM):c.7391G>A (p.Cys2464Tyr) rs1555123119
NM_000051.4(ATM):c.7395A>G (p.Lys2465=) rs2086122414
NM_000051.4(ATM):c.7397C>T (p.Ala2466Val)
NM_000051.4(ATM):c.739T>A (p.Phe247Ile) rs2135239339
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
NM_000051.4(ATM):c.7400T>C (p.Val2467Ala) rs1591160606
NM_000051.4(ATM):c.7402G>C (p.Glu2468Gln)
NM_000051.4(ATM):c.7409A>G (p.Tyr2470Cys) rs878853544
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe) rs878853544
NM_000051.4(ATM):c.7412T>G (p.Ile2471Ser) rs1591160703
NM_000051.4(ATM):c.7414A>T (p.Asn2472Tyr)
NM_000051.4(ATM):c.7415A>G (p.Asn2472Ser) rs1565529851
NM_000051.4(ATM):c.7418G>C (p.Cys2473Ser)
NM_000051.4(ATM):c.7421T>C (p.Leu2474Ser) rs2136458920
NM_000051.4(ATM):c.7422A>T (p.Leu2474Phe) rs1591160792
NM_000051.4(ATM):c.7424T>C (p.Leu2475Ser) rs1224883896
NM_000051.4(ATM):c.7427G>A (p.Ser2476Asn) rs1591160841
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg) rs778550056
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.7430G>C (p.Gly2477Ala) rs2136459422
NM_000051.4(ATM):c.7430_7432del (p.Gly2477del)
NM_000051.4(ATM):c.7435G>C (p.Glu2479Gln) rs1060501583
NM_000051.4(ATM):c.7438C>T (p.His2480Tyr) rs1029740910
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7441G>A (p.Asp2481Asn) rs2086127903
NM_000051.4(ATM):c.7442A>G (p.Asp2481Gly) rs2086128087
NM_000051.4(ATM):c.7444A>G (p.Met2482Val) rs951373716
NM_000051.4(ATM):c.7444A>T (p.Met2482Leu) rs951373716
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7446G>A (p.Met2482Ile) rs2136460286
NM_000051.4(ATM):c.7447T>C (p.Trp2483Arg) rs1591161080
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile) rs587779864
NM_000051.4(ATM):c.7450G>T (p.Val2484Leu) rs587779864
NM_000051.4(ATM):c.7453T>G (p.Phe2485Val) rs2136460721
NM_000051.4(ATM):c.7456C>G (p.Arg2486Gly) rs587779865
NM_000051.4(ATM):c.7457G>A (p.Arg2486Gln) rs773944604
NM_000051.4(ATM):c.7457G>C (p.Arg2486Pro)
NM_000051.4(ATM):c.7457G>T (p.Arg2486Leu)
NM_000051.4(ATM):c.745A>G (p.Ile249Val) rs1060501636
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.4(ATM):c.7463G>T (p.Cys2488Phe) rs774281788
NM_000051.4(ATM):c.7464T>G (p.Cys2488Trp) rs1555123227
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr) rs759728261
NM_000051.4(ATM):c.7469T>A (p.Leu2490His)
NM_000051.4(ATM):c.7473G>T (p.Trp2491Cys) rs1555123257
NM_000051.4(ATM):c.7474C>T (p.Leu2492Phe) rs1555123259
NM_000051.4(ATM):c.7482T>A (p.Asn2494Lys)
NM_000051.4(ATM):c.7486G>A (p.Gly2496Arg) rs1565530187
NM_000051.4(ATM):c.7486G>C (p.Gly2496Arg) rs1565530187
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu) rs764478418
NM_000051.4(ATM):c.7491_7499del (p.Ser2498_Val2500del) rs1064796307
NM_000051.4(ATM):c.7498G>A (p.Val2500Ile) rs1555123294
NM_000051.4(ATM):c.7499T>G (p.Val2500Gly) rs779810877
NM_000051.4(ATM):c.749G>C (p.Arg250Pro) rs56123940
NM_000051.4(ATM):c.74A>G (p.Lys25Arg) rs751310537
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys) rs1591161664
NM_000051.4(ATM):c.7505G>T (p.Gly2502Val) rs754517317
NM_000051.4(ATM):c.7506C>T (p.Gly2502=)
NM_000051.4(ATM):c.7507A>G (p.Met2503Val) rs780931855
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu) rs780931855
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.4(ATM):c.7511T>A (p.Met2504Lys) rs1060501644
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr) rs1060501644
NM_000051.4(ATM):c.7515+4A>G rs1565530434
NM_000051.4(ATM):c.7515+4del rs2136465168
NM_000051.4(ATM):c.7515+5G>A rs1555123361
NM_000051.4(ATM):c.7515+5_7515+7del rs2136465391
NM_000051.4(ATM):c.7515+6T>C rs1250327887
NM_000051.4(ATM):c.7515G>A (p.Lys2505=)
NM_000051.4(ATM):c.7516-5G>A rs1057520837
NM_000051.4(ATM):c.7517G>A (p.Arg2506Lys) rs1555123920
NM_000051.4(ATM):c.7519G>C (p.Asp2507His) rs2136491059
NM_000051.4(ATM):c.751G>A (p.Val251Met) rs1057519145
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu) rs751234924
NM_000051.4(ATM):c.7525A>T (p.Met2509Leu) rs979101125
NM_000051.4(ATM):c.7527G>A (p.Met2509Ile) rs1060501579
NM_000051.4(ATM):c.7527G>C (p.Met2509Ile)
NM_000051.4(ATM):c.752T>C (p.Val251Ala) rs1591503977
NM_000051.4(ATM):c.752T>G (p.Val251Gly) rs1591503977
NM_000051.4(ATM):c.7534C>A (p.Pro2512Thr) rs1565532052
NM_000051.4(ATM):c.7534C>T (p.Pro2512Ser) rs1565532052
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala) rs1480066803
NM_000051.4(ATM):c.7538C>G (p.Thr2513Arg) rs2136492214
NM_000051.4(ATM):c.7540T>C (p.Tyr2514His) rs1555123985
NM_000051.4(ATM):c.7541A>G (p.Tyr2514Cys) rs1555123994
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe) rs1555123994
NM_000051.4(ATM):c.7543A>G (p.Lys2515Glu) rs1555124004
NM_000051.4(ATM):c.7544A>C (p.Lys2515Thr) rs1591167340
NM_000051.4(ATM):c.7552C>A (p.Pro2518Thr)
NM_000051.4(ATM):c.7553C>A (p.Pro2518His) rs879254136
NM_000051.4(ATM):c.7555C>A (p.Leu2519Ile) rs1555124019
NM_000051.4(ATM):c.7555C>G (p.Leu2519Val) rs1555124019
NM_000051.4(ATM):c.7556T>C (p.Leu2519Pro) rs2136493486
NM_000051.4(ATM):c.7558A>C (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7558A>T (p.Met2520Leu) rs1591167508
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile) rs1591167543
NM_000051.4(ATM):c.7561T>G (p.Tyr2521Asp) rs2136493941
NM_000051.4(ATM):c.7562A>C (p.Tyr2521Ser)
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys) rs876660422
NM_000051.4(ATM):c.7562A>T (p.Tyr2521Phe)
NM_000051.4(ATM):c.7564C>G (p.Gln2522Glu) rs1591167598
NM_000051.4(ATM):c.7565A>C (p.Gln2522Pro)
NM_000051.4(ATM):c.7565A>G (p.Gln2522Arg) rs1555124039
NM_000051.4(ATM):c.7566A>C (p.Gln2522His)
NM_000051.4(ATM):c.7566A>T (p.Gln2522His) rs775621333
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr) rs769142993
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser) rs769142993
NM_000051.4(ATM):c.7571C>T (p.Ala2524Val) rs876660663
NM_000051.4(ATM):c.7575_7576insTTC (p.Ala2525_Arg2526insPhe) rs1555124054
NM_000051.4(ATM):c.7576A>G (p.Arg2526Gly) rs1591167721
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys) rs876659323
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr) rs876659323
NM_000051.4(ATM):c.7579A>G (p.Met2527Val)
NM_000051.4(ATM):c.757G>A (p.Glu253Lys) rs2135239944
NM_000051.4(ATM):c.7581G>A (p.Met2527Ile) rs2086230646
NM_000051.4(ATM):c.7588A>G (p.Lys2530Glu) rs2086231222
NM_000051.4(ATM):c.758A>G (p.Glu253Gly) rs2079763142
NM_000051.4(ATM):c.7592T>G (p.Met2531Arg) rs587781365
NM_000051.4(ATM):c.7594A>G (p.Met2532Val) rs2136496697
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile) rs587781854
NM_000051.4(ATM):c.7597G>A (p.Gly2533Arg)
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.7607G>C (p.Gly2536Ala) rs2136497972
NM_000051.4(ATM):c.7609T>C (p.Phe2537Leu) rs2086234277
NM_000051.4(ATM):c.7613A>G (p.His2538Arg)
NM_000051.4(ATM):c.7614T>G (p.His2538Gln) rs2086234461
NM_000051.4(ATM):c.7616A>G (p.Glu2539Gly)
NM_000051.4(ATM):c.7617A>C (p.Glu2539Asp) rs1591168001
NM_000051.4(ATM):c.7621C>T (p.Leu2541Phe) rs1565532615
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7625A>G (p.Asn2542Ser) rs2086236181
NM_000051.4(ATM):c.7626T>A (p.Asn2542Lys) rs1555124134
NM_000051.4(ATM):c.7629+3A>C rs752251778
NM_000051.4(ATM):c.7630-12_7630-11del
NM_000051.4(ATM):c.7630-16A>C
NM_000051.4(ATM):c.7630-17_7630-16del
NM_000051.4(ATM):c.7630-7C>A rs730881276
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val) rs1555124455
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro) rs1555124459
NM_000051.4(ATM):c.7639A>G (p.Arg2547Gly) rs1565533544
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
NM_000051.4(ATM):c.763G>C (p.Gly255Arg) rs770911662
NM_000051.4(ATM):c.7640G>T (p.Arg2547Ile) rs2136515485
NM_000051.4(ATM):c.7645T>C (p.Ser2549Pro)
NM_000051.4(ATM):c.7648A>C (p.Met2550Leu) rs878853545
NM_000051.4(ATM):c.764_766del (p.Gly255del) rs766716803
NM_000051.4(ATM):c.7650G>T (p.Met2550Ile) rs1565533594
NM_000051.4(ATM):c.7651G>A (p.Asp2551Asn) rs2086287943
NM_000051.4(ATM):c.7651G>C (p.Asp2551His)
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.4(ATM):c.7654C>A (p.His2552Asn) rs786202174
NM_000051.4(ATM):c.7654C>T (p.His2552Tyr) rs786202174
NM_000051.4(ATM):c.7655A>G (p.His2552Arg)
NM_000051.4(ATM):c.7657C>A (p.Pro2553Thr) rs1555124475
NM_000051.4(ATM):c.7657C>G (p.Pro2553Ala)
NM_000051.4(ATM):c.7657C>T (p.Pro2553Ser)
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu) rs864622368
NM_000051.4(ATM):c.7660C>T (p.His2554Tyr) rs1555124482
NM_000051.4(ATM):c.7661A>G (p.His2554Arg) rs1555124487
NM_000051.4(ATM):c.7661A>T (p.His2554Leu) rs1555124487
NM_000051.4(ATM):c.7663C>A (p.His2555Asn) rs786203651
NM_000051.4(ATM):c.7667C>A (p.Thr2556Asn) rs1226186392
NM_000051.4(ATM):c.7667C>G (p.Thr2556Ser)
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.7671G>C (p.Leu2557Phe) rs2086293337
NM_000051.4(ATM):c.7674TAT[1] (p.Ile2560del) rs1591171617
NM_000051.4(ATM):c.7674_7686delinsA (p.Phe2558_Ala2562delinsLeu) rs2086293945
NM_000051.4(ATM):c.7679T>A (p.Ile2560Lys)
NM_000051.4(ATM):c.7679T>C (p.Ile2560Thr) rs2086294390
NM_000051.4(ATM):c.7679T>G (p.Ile2560Arg)
NM_000051.4(ATM):c.767A>G (p.Asp256Gly) rs907941927
NM_000051.4(ATM):c.767A>T (p.Asp256Val) rs907941927
NM_000051.4(ATM):c.7684G>T (p.Ala2562Ser) rs1555124521
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7685C>G (p.Ala2562Gly) rs1322308382
NM_000051.4(ATM):c.7687T>A (p.Leu2563Ile) rs1208002418
NM_000051.4(ATM):c.7688T>C (p.Leu2563Ser) rs2136520333
NM_000051.4(ATM):c.7690G>C (p.Ala2564Pro) rs940285361
NM_000051.4(ATM):c.7691C>T (p.Ala2564Val)
NM_000051.4(ATM):c.7693A>G (p.Asn2565Asp) rs1555124543
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7697C>G (p.Ala2566Gly) rs2086297257
NM_000051.4(ATM):c.769G>C (p.Glu257Gln) rs1565371596
NM_000051.4(ATM):c.7702A>G (p.Arg2568Gly) rs2086298156
NM_000051.4(ATM):c.7703G>A (p.Arg2568Lys) rs1591171915
NM_000051.4(ATM):c.7703G>C (p.Arg2568Thr)
NM_000051.4(ATM):c.7704A>T (p.Arg2568Ser) rs2136521869
NM_000051.4(ATM):c.7705G>A (p.Asp2569Asn) rs898880638
NM_000051.4(ATM):c.7705G>C (p.Asp2569His) rs898880638
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser) rs1555124612
NM_000051.4(ATM):c.771A>C (p.Glu257Asp)
NM_000051.4(ATM):c.7723C>T (p.Pro2575Ser)
NM_000051.4(ATM):c.7724C>A (p.Pro2575Gln) rs1591172186
NM_000051.4(ATM):c.7732G>A (p.Ala2578Thr) rs1555124632
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr) rs879254206
NM_000051.4(ATM):c.7737AAG[1] (p.Arg2580del) rs1064795204
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile) rs761790685
NM_000051.4(ATM):c.7743C>A (p.Ser2581Arg) rs2086306575
NM_000051.4(ATM):c.7746A>T (p.Arg2582Ser)
NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)
NM_000051.4(ATM):c.7748T>A (p.Ile2583Lys) rs2086307984
NM_000051.4(ATM):c.7753A>G (p.Lys2585Glu) rs2086308918
NM_000051.4(ATM):c.7758T>G (p.Asn2586Lys) rs2136526693
NM_000051.4(ATM):c.7759G>A (p.Val2587Met) rs1285491916
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)
NM_000051.4(ATM):c.7765A>G (p.Lys2589Glu) rs876659557
NM_000051.4(ATM):c.7766A>G (p.Lys2589Arg) rs878853546
NM_000051.4(ATM):c.7768C>G (p.Gln2590Glu) rs876659561
NM_000051.4(ATM):c.7769A>G (p.Gln2590Arg) rs1555124706
NM_000051.4(ATM):c.776T>C (p.Leu259Pro)
NM_000051.4(ATM):c.7770A>C (p.Gln2590His)
NM_000051.4(ATM):c.7771A>C (p.Ser2591Arg) rs2086312114
NM_000051.4(ATM):c.7772G>A (p.Ser2591Asn) rs730881319
NM_000051.4(ATM):c.7775C>T (p.Ser2592Phe)
NM_000051.4(ATM):c.7779G>C (p.Gln2593His)
NM_000051.4(ATM):c.7786G>A (p.Glu2596Lys) rs1555124747
NM_000051.4(ATM):c.7788+4T>C rs2136529910
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-15_7789-9del
NM_000051.4(ATM):c.7789-19_7789-16del
NM_000051.4(ATM):c.7789-22_7789-18del
NM_000051.4(ATM):c.7789-3T>C
NM_000051.4(ATM):c.7789-4A>G rs2086401774
NM_000051.4(ATM):c.7789G>C (p.Asp2597His) rs1555125212
NM_000051.4(ATM):c.778C>A (p.Pro260Thr) rs863224581
NM_000051.4(ATM):c.778C>G (p.Pro260Ala) rs863224581
NM_000051.4(ATM):c.7796C>T (p.Thr2599Ile) rs2086404569
NM_000051.4(ATM):c.7798G>A (p.Glu2600Lys) rs2086405495
NM_000051.4(ATM):c.779C>A (p.Pro260His) rs961262202
NM_000051.4(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.4(ATM):c.77A>G (p.Glu26Gly) rs1555054052
NM_000051.4(ATM):c.7804G>A (p.Ala2602Thr) rs1555125227
NM_000051.4(ATM):c.7807A>G (p.Asn2603Asp) rs1591178124
NM_000051.4(ATM):c.7807A>T (p.Asn2603Tyr)
NM_000051.4(ATM):c.7809T>A (p.Asn2603Lys)
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser) rs1484346818
NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del) rs786203830
NM_000051.4(ATM):c.7814T>C (p.Ile2605Thr) rs2136562632
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg) rs1459650575
NM_000051.4(ATM):c.7819T>G (p.Cys2607Gly) rs1459650575
NM_000051.4(ATM):c.781A>T (p.Thr261Ser) rs786203410
NM_000051.4(ATM):c.7822A>G (p.Thr2608Ala) rs2086408912
NM_000051.4(ATM):c.7825A>G (p.Ile2609Val) rs779400418
NM_000051.4(ATM):c.7826T>C (p.Ile2609Thr) rs369846067
NM_000051.4(ATM):c.7829G>C (p.Arg2610Thr) rs2136563969
NM_000051.4(ATM):c.782C>G (p.Thr261Ser)
NM_000051.4(ATM):c.7834A>G (p.Arg2612Gly)
NM_000051.4(ATM):c.7835G>A (p.Arg2612Lys) rs138048269
NM_000051.4(ATM):c.7836G>C (p.Arg2612Ser) rs761324887
NM_000051.4(ATM):c.7839A>T (p.Arg2613Ser)
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser) rs1555125305
NM_000051.4(ATM):c.7841C>A (p.Pro2614His) rs769207177
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu) rs769207177
NM_000051.4(ATM):c.7845G>T (p.Gln2615His)
NM_000051.4(ATM):c.7846A>G (p.Met2616Val) rs876658208
NM_000051.4(ATM):c.7849G>T (p.Val2617Phe) rs1555125331
NM_000051.4(ATM):c.7850T>A (p.Val2617Asp)
NM_000051.4(ATM):c.7850T>G (p.Val2617Gly)
NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly) rs1057521185
NM_000051.4(ATM):c.7853G>A (p.Arg2618Lys)
NM_000051.4(ATM):c.7854A>C (p.Arg2618Ser) rs1565536250
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly) rs2086416652
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu) rs1427723678
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe) rs1427723678
NM_000051.4(ATM):c.7859T>C (p.Val2620Ala)
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.7861G>C (p.Glu2621Gln) rs1555125355
NM_000051.4(ATM):c.7864G>A (p.Ala2622Thr) rs2136567791
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile) rs774118570
NM_000051.4(ATM):c.7867C>G (p.Leu2623Val) rs774118570
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe) rs774118570
NM_000051.4(ATM):c.7874A>G (p.Asp2625Gly) rs876660121
NM_000051.4(ATM):c.7876G>A (p.Ala2626Thr)
NM_000051.4(ATM):c.7877C>G (p.Ala2626Gly)
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val) rs1555125394
NM_000051.4(ATM):c.7880A>C (p.Tyr2627Ser)
NM_000051.4(ATM):c.7882A>C (p.Ile2628Leu) rs587781370
NM_000051.4(ATM):c.7882A>G (p.Ile2628Val) rs587781370
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val) rs2136569929
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met) rs752886000
NM_000051.4(ATM):c.7888T>A (p.Leu2630Ile) rs1555125427
NM_000051.4(ATM):c.7888T>G (p.Leu2630Val) rs1555125427
NM_000051.4(ATM):c.788T>A (p.Leu263His) rs2079765536
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
NM_000051.4(ATM):c.7896C>G (p.Asn2632Lys) rs1591179036
NM_000051.4(ATM):c.7901A>T (p.Asp2634Val) rs876660909
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly) rs754002355
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.790T>C (p.Tyr264His)
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)
NM_000051.4(ATM):c.7911G>T (p.Gln2637His) rs2136572151
NM_000051.4(ATM):c.7916A>G (p.Lys2639Arg)
NM_000051.4(ATM):c.7918A>C (p.Thr2640Pro)
NM_000051.4(ATM):c.7921C>G (p.Gln2641Glu) rs769523686
NM_000051.4(ATM):c.7924A>G (p.Arg2642Gly)
NM_000051.4(ATM):c.7926A>G (p.Arg2642=)
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+1_7927+2dup rs2086432329
NM_000051.4(ATM):c.7927+3A>G
NM_000051.4(ATM):c.7927+4del rs2086433771
NM_000051.4(ATM):c.7927+5G>A rs1299306446
NM_000051.4(ATM):c.7927+5G>C rs1299306446
NM_000051.4(ATM):c.7927+5G>T rs1299306446
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7927+6T>G rs1591179460
NM_000051.4(ATM):c.7928-10T>G rs188404773
NM_000051.4(ATM):c.7928-1G>A rs1555126163
NM_000051.4(ATM):c.7928-8A>G rs2086542058
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser) rs587781897
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg) rs587781897
NM_000051.4(ATM):c.7930G>T (p.Gly2644Cys) rs587781897
NM_000051.4(ATM):c.7932C>T (p.Gly2644=) rs2136610997
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val) rs937831636
NM_000051.4(ATM):c.7936A>C (p.Asn2646His) rs1060501575
NM_000051.4(ATM):c.7937A>G (p.Asn2646Ser)
NM_000051.4(ATM):c.7939A>G (p.Ile2647Val)
NM_000051.4(ATM):c.793A>G (p.Ile265Val) rs587781973
NM_000051.4(ATM):c.7941T>G (p.Ile2647Met)
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7942C>G (p.Pro2648Ala) rs878853547
NM_000051.4(ATM):c.7942C>T (p.Pro2648Ser) rs878853547
NM_000051.4(ATM):c.7943C>T (p.Pro2648Leu)
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn) rs786202219
NM_000051.4(ATM):c.7949A>C (p.Asp2650Ala) rs1060501635
NM_000051.4(ATM):c.7949A>G (p.Asp2650Gly)
NM_000051.4(ATM):c.7950C>A (p.Asp2650Glu) rs1060504298
NM_000051.4(ATM):c.7951C>A (p.Gln2651Lys) rs587781994
NM_000051.4(ATM):c.7951C>G (p.Gln2651Glu) rs587781994
NM_000051.4(ATM):c.7955C>T (p.Pro2652Leu) rs1565538433
NM_000051.4(ATM):c.7958T>C (p.Ile2653Thr)
NM_000051.4(ATM):c.7958_7960del (p.Ile2653del) rs1555126226
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
NM_000051.4(ATM):c.7960A>G (p.Thr2654Ala) rs2136613550
NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser) rs786203621
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile) rs786203621
NM_000051.4(ATM):c.7963A>G (p.Lys2655Glu)
NM_000051.4(ATM):c.7964A>C (p.Lys2655Thr) rs2086549249
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe) rs1591184384
NM_000051.4(ATM):c.7967T>G (p.Leu2656Arg) rs121434218
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)
NM_000051.4(ATM):c.7969A>G (p.Lys2657Glu) rs755706903
NM_000051.4(ATM):c.7972A>T (p.Asn2658Tyr) rs2086550573
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser) rs1565538536
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del) rs2086551461
NM_000051.4(ATM):c.7978G>A (p.Glu2660Lys)
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp) rs1555126247
NM_000051.4(ATM):c.7987G>C (p.Val2663Leu)
NM_000051.4(ATM):c.7987G>T (p.Val2663Phe)
NM_000051.4(ATM):c.798G>T (p.Trp266Cys) rs2079766417
NM_000051.4(ATM):c.7990G>T (p.Val2664Phe) rs2086554329
NM_000051.4(ATM):c.7991T>G (p.Val2664Gly)
NM_000051.4(ATM):c.7991_8010+8dup rs1555126295
NM_000051.4(ATM):c.7994C>A (p.Pro2665His) rs1591184690
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu) rs1591184690
NM_000051.4(ATM):c.7996A>C (p.Thr2666Pro) rs745775382
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu) rs34099398
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.79G>C (p.Val27Leu) rs754770960
NM_000051.4(ATM):c.8001G>A (p.Met2667Ile) rs1591184841
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys) rs772097933
NM_000051.4(ATM):c.8002G>C (p.Glu2668Gln) rs772097933
NM_000051.4(ATM):c.8008A>G (p.Lys2670Glu) rs2086557212
NM_000051.4(ATM):c.800C>T (p.Thr267Ile)
NM_000051.4(ATM):c.8010+3A>T
NM_000051.4(ATM):c.8010+5T>C rs56256497
NM_000051.4(ATM):c.8010+6T>C rs2086559039
NM_000051.4(ATM):c.8010+6T>G
NM_000051.4(ATM):c.8011-10C>G rs1555127008
NM_000051.4(ATM):c.8011-4T>G rs2086667288
NM_000051.4(ATM):c.8011-9T>A
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr) rs1555127024
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala) rs763161651
NM_000051.4(ATM):c.8015A>G (p.Asp2672Gly) rs763161651
NM_000051.4(ATM):c.8015A>T (p.Asp2672Val)
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr) rs1555127035
NM_000051.4(ATM):c.8021C>T (p.Thr2674Ile)
NM_000051.4(ATM):c.8024G>A (p.Gly2675Glu)
NM_000051.4(ATM):c.8027A>G (p.Glu2676Gly)
NM_000051.4(ATM):c.8027A>T (p.Glu2676Val) rs2136653996
NM_000051.4(ATM):c.8028A>C (p.Glu2676Asp)
NM_000051.4(ATM):c.8035A>G (p.Asn2679Asp)
NM_000051.4(ATM):c.8036A>G (p.Asn2679Ser)
NM_000051.4(ATM):c.8038C>A (p.Leu2680Met) rs2086671863
NM_000051.4(ATM):c.8041G>A (p.Val2681Met) rs1064795034
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu) rs1064795034
NM_000051.4(ATM):c.8042T>G (p.Val2681Gly)
NM_000051.4(ATM):c.8044A>C (p.Thr2682Pro) rs730881320
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala) rs730881320
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr) rs1555127096
NM_000051.4(ATM):c.8049A>G (p.Ile2683Met) rs1292192410
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg) rs1555127107
NM_000051.4(ATM):c.8052G>C (p.Gln2684His)
NM_000051.4(ATM):c.8053T>C (p.Ser2685Pro)
NM_000051.4(ATM):c.8054C>T (p.Ser2685Leu)
NM_000051.4(ATM):c.8057T>C (p.Phe2686Ser)
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.8062G>C (p.Ala2688Pro)
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8068T>G (p.Phe2690Val) rs2086677473
NM_000051.4(ATM):c.8069T>G (p.Phe2690Cys) rs2086677926
NM_000051.4(ATM):c.806A>G (p.His269Arg) rs1565371740
NM_000051.4(ATM):c.806A>T (p.His269Leu)
NM_000051.4(ATM):c.8071C>A (p.Arg2691Ser) rs531980488
NM_000051.4(ATM):c.8071C>G (p.Arg2691Gly) rs531980488
NM_000051.4(ATM):c.8072G>C (p.Arg2691Pro) rs876658385
NM_000051.4(ATM):c.8072G>T (p.Arg2691Leu) rs876658385
NM_000051.4(ATM):c.8073C>G (p.Arg2691=) rs1215882325
NM_000051.4(ATM):c.8077G>A (p.Ala2693Thr) rs2086679024
NM_000051.4(ATM):c.8077G>C (p.Ala2693Pro)
NM_000051.4(ATM):c.8078C>A (p.Ala2693Glu) rs2136659025
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del) rs1565540828
NM_000051.4(ATM):c.807T>G (p.His269Gln) rs2135241561
NM_000051.4(ATM):c.8080G>A (p.Gly2694Arg) rs1555127157
NM_000051.4(ATM):c.8081G>A (p.Gly2694Glu)
NM_000051.4(ATM):c.8081G>C (p.Gly2694Ala) rs2086679689
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser) rs1555127166
NM_000051.4(ATM):c.8083G>C (p.Gly2695Arg) rs1555127166
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys) rs1555127166
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala) rs1060501680
NM_000051.4(ATM):c.8084G>T (p.Gly2695Val) rs1060501680
NM_000051.4(ATM):c.8086G>A (p.Val2696Ile) rs989577687
NM_000051.4(ATM):c.8087T>C (p.Val2696Ala) rs1591191762
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp) rs1555127177
NM_000051.4(ATM):c.8089A>T (p.Asn2697Tyr) rs1555127177
NM_000051.4(ATM):c.8090A>G (p.Asn2697Ser) rs2136660129
NM_000051.4(ATM):c.8093T>C (p.Leu2698Ser) rs2136660259
NM_000051.4(ATM):c.8095C>T (p.Pro2699Ser) rs2086682194
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg) rs879254209
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu) rs879254209
NM_000051.4(ATM):c.8099A>C (p.Lys2700Thr)
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.80T>A (p.Val27Asp) rs2078817440
NM_000051.4(ATM):c.80T>C (p.Val27Ala) rs2078817440
NM_000051.4(ATM):c.8100A>T (p.Lys2700Asn) rs778601472
NM_000051.4(ATM):c.8101A>C (p.Ile2701Leu)
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met) rs2086684779
NM_000051.4(ATM):c.8107G>A (p.Asp2703Asn) rs1555127236
NM_000051.4(ATM):c.8108A>T (p.Asp2703Val) rs1565541059
NM_000051.4(ATM):c.810G>C (p.Arg270Ser) rs1565371772
NM_000051.4(ATM):c.8111G>A (p.Cys2704Tyr) rs1555127249
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu) rs587779870
NM_000051.4(ATM):c.8116G>T (p.Gly2706Cys) rs2136662430
NM_000051.4(ATM):c.8117G>T (p.Gly2706Val)
NM_000051.4(ATM):c.8119T>A (p.Ser2707Thr) rs1555127276
NM_000051.4(ATM):c.811C>G (p.Leu271Val) rs730881339
NM_000051.4(ATM):c.811C>T (p.Leu271Phe) rs730881339
NM_000051.4(ATM):c.8120C>T (p.Ser2707Phe) rs748016261
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr) rs587782719
NM_000051.4(ATM):c.8123A>G (p.Asp2708Gly)
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val) rs2086688080
NM_000051.4(ATM):c.8125G>A (p.Gly2709Ser) rs3218680
NM_000051.4(ATM):c.8126G>C (p.Gly2709Ala) rs2086688845
NM_000051.4(ATM):c.8128A>G (p.Lys2710Glu)
NM_000051.4(ATM):c.8129A>T (p.Lys2710Met) rs587782001
NM_000051.4(ATM):c.812T>C (p.Leu271Pro)
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys) rs876659351
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr) rs876659351
NM_000051.4(ATM):c.8138G>T (p.Arg2713Ile) rs876659351
NM_000051.4(ATM):c.8139A>C (p.Arg2713Ser)
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys) rs1060501695
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu) rs1060501695
NM_000051.4(ATM):c.8141A>G (p.Gln2714Arg) rs2086691196
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe) rs1591192429
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile) rs730881385
NM_000051.4(ATM):c.8148_8150dup (p.Val2716_Lys2717insAsn) rs2086692643
NM_000051.4(ATM):c.8149A>C (p.Lys2717Gln) rs774334667
NM_000051.4(ATM):c.8149A>G (p.Lys2717Glu) rs774334667
NM_000051.4(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
NM_000051.4(ATM):c.8150A>C (p.Lys2717Thr) rs1555127353
NM_000051.4(ATM):c.8151+4A>T rs1294982909
NM_000051.4(ATM):c.8151+5G>A rs1555127370
NM_000051.4(ATM):c.8151+5G>C rs1555127370
NM_000051.4(ATM):c.8151+5G>T
NM_000051.4(ATM):c.8151+6C>T rs910779363
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-16C>G rs1555128173
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8152-8T>G rs752705487
NM_000051.4(ATM):c.8152G>A (p.Gly2718Ser) rs1060501689
NM_000051.4(ATM):c.8152G>C (p.Gly2718Arg) rs1060501689
NM_000051.4(ATM):c.8156G>C (p.Arg2719Pro)
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu) rs55982963
NM_000051.4(ATM):c.8158G>C (p.Asp2720His) rs876659942
NM_000051.4(ATM):c.8159A>G (p.Asp2720Gly) rs745901025
NM_000051.4(ATM):c.815A>G (p.Asn272Ser) rs1555067189
NM_000051.4(ATM):c.815A>T (p.Asn272Ile) rs1555067189
NM_000051.4(ATM):c.8160T>A (p.Asp2720Glu)
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8161G>C (p.Asp2721His) rs876659066
NM_000051.4(ATM):c.8161G>T (p.Asp2721Tyr) rs876659066
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val) rs1555128280
NM_000051.4(ATM):c.8163C>A (p.Asp2721Glu) rs1305816583
NM_000051.4(ATM):c.8164C>G (p.Leu2722Val) rs587782399
NM_000051.4(ATM):c.8164_8181del (p.Leu2722_Val2727del) rs1555128287
NM_000051.4(ATM):c.8165T>G (p.Leu2722Arg) rs2086784272
NM_000051.4(ATM):c.8167A>G (p.Arg2723Gly)
NM_000051.4(ATM):c.8168G>T (p.Arg2723Ile) rs1555128301
NM_000051.4(ATM):c.8170C>A (p.Gln2724Lys) rs2086784990
NM_000051.4(ATM):c.8170C>G (p.Gln2724Glu)
NM_000051.4(ATM):c.8171A>G (p.Gln2724Arg) rs1565543300
NM_000051.4(ATM):c.8173G>A (p.Asp2725Asn) rs587782049
NM_000051.4(ATM):c.8173G>T (p.Asp2725Tyr) rs587782049
NM_000051.4(ATM):c.8174A>C (p.Asp2725Ala)
NM_000051.4(ATM):c.8174A>G (p.Asp2725Gly) rs1555128314
NM_000051.4(ATM):c.8174A>T (p.Asp2725Val) rs1555128314
NM_000051.4(ATM):c.8175T>G (p.Asp2725Glu) rs1431188311
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala) rs1565543359
NM_000051.4(ATM):c.8180T>G (p.Val2727Gly) rs1565543359
NM_000051.4(ATM):c.8182A>T (p.Met2728Leu) rs1555128338
NM_000051.4(ATM):c.8185C>G (p.Gln2729Glu) rs587781967
NM_000051.4(ATM):c.8186A>C (p.Gln2729Pro) rs1555128350
NM_000051.4(ATM):c.8186A>G (p.Gln2729Arg)
NM_000051.4(ATM):c.8187A>T (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8188C>G (p.Gln2730Glu) rs587782317
NM_000051.4(ATM):c.8189A>G (p.Gln2730Arg) rs762154857
NM_000051.4(ATM):c.8189A>T (p.Gln2730Leu) rs762154857
NM_000051.4(ATM):c.8190G>C (p.Gln2730His) rs2086788941
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile) rs1215175886
NM_000051.4(ATM):c.8191G>C (p.Val2731Leu)
NM_000051.4(ATM):c.8192T>A (p.Val2731Asp)
NM_000051.4(ATM):c.8192T>C (p.Val2731Ala) rs2086789387
NM_000051.4(ATM):c.8192T>G (p.Val2731Gly) rs2086789387
NM_000051.4(ATM):c.8194T>A (p.Phe2732Ile) rs876659619
NM_000051.4(ATM):c.8194T>C (p.Phe2732Leu) rs876659619
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val) rs876659619
NM_000051.4(ATM):c.8195T>C (p.Phe2732Ser) rs2086790430
NM_000051.4(ATM):c.8198A>C (p.Gln2733Pro)
NM_000051.4(ATM):c.8198A>G (p.Gln2733Arg) rs1591198624
NM_000051.4(ATM):c.8199G>C (p.Gln2733His) rs770552705
NM_000051.4(ATM):c.8201T>C (p.Met2734Thr) rs2136695452
NM_000051.4(ATM):c.8202G>A (p.Met2734Ile) rs2086792007
NM_000051.4(ATM):c.8204G>T (p.Cys2735Phe)
NM_000051.4(ATM):c.8206A>G (p.Asn2736Asp) rs1060501577
NM_000051.4(ATM):c.8206A>T (p.Asn2736Tyr) rs1060501577
NM_000051.4(ATM):c.820T>G (p.Ser274Ala) rs2079767927
NM_000051.4(ATM):c.8210C>G (p.Thr2737Arg) rs2086793204
NM_000051.4(ATM):c.8210C>T (p.Thr2737Ile) rs2086793204
NM_000051.4(ATM):c.8214A>C (p.Leu2738Phe) rs2136696989
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.8230G>A (p.Glu2744Lys)
NM_000051.4(ATM):c.8231A>G (p.Glu2744Gly)
NM_000051.4(ATM):c.8234C>T (p.Thr2745Ile) rs786203094
NM_000051.4(ATM):c.8236A>G (p.Arg2746Gly) rs2136698373
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg) rs1038749014
NM_000051.4(ATM):c.8243G>A (p.Arg2748Lys) rs75305387
NM_000051.4(ATM):c.8248T>A (p.Leu2750Ile) rs876658559
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8249T>C (p.Leu2750Ser)
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala) rs2086799919
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser) rs2086800136
NM_000051.4(ATM):c.8254A>C (p.Ile2752Leu)
NM_000051.4(ATM):c.8254A>T (p.Ile2752Phe)
NM_000051.4(ATM):c.8256C>G (p.Ile2752Met) rs1555128574
NM_000051.4(ATM):c.8257T>C (p.Cys2753Arg)
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe) rs1284049490
NM_000051.4(ATM):c.825A>T (p.Leu275Phe) rs2135242080
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala) rs587781414
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser) rs1591199410
NM_000051.4(ATM):c.8264A>G (p.Tyr2755Cys)
NM_000051.4(ATM):c.8266A>G (p.Lys2756Glu) rs371638537
NM_000051.4(ATM):c.8268+4A>G rs2086804691
NM_000051.4(ATM):c.8268+5C>T rs1565544035
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.4(ATM):c.8269-7A>G rs2087803205
NM_000051.4(ATM):c.8269G>C (p.Val2757Leu) rs761625350
NM_000051.4(ATM):c.8269G>T (p.Val2757Leu) rs761625350
NM_000051.4(ATM):c.826A>C (p.Lys276Gln) rs587782902
NM_000051.4(ATM):c.826A>G (p.Lys276Glu) rs587782902
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly) rs201216427
NM_000051.4(ATM):c.8272G>T (p.Val2758Phe) rs1555135373
NM_000051.4(ATM):c.8275C>G (p.Pro2759Ala) rs764906663
NM_000051.4(ATM):c.8276C>A (p.Pro2759His) rs2087807752
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu) rs2087807752
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe) rs758609900
NM_000051.4(ATM):c.8279T>C (p.Leu2760Pro) rs1060501578
NM_000051.4(ATM):c.8284C>G (p.Gln2762Glu) rs751574257
NM_000051.4(ATM):c.8287C>G (p.Arg2763Gly) rs876659872
NM_000051.4(ATM):c.8291G>C (p.Ser2764Thr)
NM_000051.4(ATM):c.8293G>T (p.Gly2765Cys) rs748634900
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile) rs730881322
NM_000051.4(ATM):c.8297T>G (p.Val2766Gly) rs1064796249
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe) rs786203975
NM_000051.4(ATM):c.8300T>A (p.Leu2767His)
NM_000051.4(ATM):c.8300T>C (p.Leu2767Pro) rs1591247825
NM_000051.4(ATM):c.8300T>G (p.Leu2767Arg) rs1591247825
NM_000051.4(ATM):c.8303A>T (p.Glu2768Val) rs2136943134
NM_000051.4(ATM):c.8305T>C (p.Trp2769Arg) rs1591247945
NM_000051.4(ATM):c.8307G>C (p.Trp2769Cys)
NM_000051.4(ATM):c.8307G>T (p.Trp2769Cys) rs778269655
NM_000051.4(ATM):c.8308T>A (p.Cys2770Ser)
NM_000051.4(ATM):c.8308T>G (p.Cys2770Gly) rs749737164
NM_000051.4(ATM):c.8309G>T (p.Cys2770Phe) rs2087816795
NM_000051.4(ATM):c.830A>G (p.Glu277Gly) rs2079768905
NM_000051.4(ATM):c.8310C>G (p.Cys2770Trp) rs1555135544
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala) rs876660587
NM_000051.4(ATM):c.8312C>G (p.Thr2771Arg)
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile) rs771781881
NM_000051.4(ATM):c.8314_8316del (p.Gly2772del) rs2087818644
NM_000051.4(ATM):c.8315G>A (p.Gly2772Glu) rs775293524
NM_000051.4(ATM):c.8315G>C (p.Gly2772Ala) rs775293524
NM_000051.4(ATM):c.8318C>A (p.Thr2773Asn) rs786203321
NM_000051.4(ATM):c.8318C>T (p.Thr2773Ile) rs786203321
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu) rs2087821053
NM_000051.4(ATM):c.8321T>C (p.Val2774Ala) rs776988084
NM_000051.4(ATM):c.8323C>T (p.Pro2775Ser) rs2087822375
NM_000051.4(ATM):c.8324C>G (p.Pro2775Arg)
NM_000051.4(ATM):c.8324C>T (p.Pro2775Leu) rs1591248275
NM_000051.4(ATM):c.8327T>A (p.Ile2776Asn) rs746475628
NM_000051.4(ATM):c.8327T>G (p.Ile2776Ser) rs746475628
NM_000051.4(ATM):c.8328T>G (p.Ile2776Met)
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser) rs2087823795
NM_000051.4(ATM):c.8329G>C (p.Gly2777Arg)
NM_000051.4(ATM):c.832G>A (p.Val278Ile) rs761005590
NM_000051.4(ATM):c.832G>T (p.Val278Phe) rs761005590
NM_000051.4(ATM):c.8330G>A (p.Gly2777Asp) rs879254240
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val) rs879254240
NM_000051.4(ATM):c.8332G>A (p.Glu2778Lys)
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala) rs876659792
NM_000051.4(ATM):c.8333A>T (p.Glu2778Val)
NM_000051.4(ATM):c.8339T>A (p.Leu2780His)
NM_000051.4(ATM):c.8339T>C (p.Leu2780Pro) rs2087825562
NM_000051.4(ATM):c.8341_8343del (p.Val2781del) rs1178661659
NM_000051.4(ATM):c.8342T>C (p.Val2781Ala)
NM_000051.4(ATM):c.8344A>G (p.Asn2782Asp) rs2136947170
NM_000051.4(ATM):c.8345A>G (p.Asn2782Ser) rs2136947221
NM_000051.4(ATM):c.8348A>G (p.Asn2783Ser) rs2087826921
NM_000051.4(ATM):c.8350G>A (p.Glu2784Lys) rs1479612629
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
NM_000051.4(ATM):c.8354A>G (p.Asp2785Gly) rs1591248589
NM_000051.4(ATM):c.8354A>T (p.Asp2785Val) rs1591248589
NM_000051.4(ATM):c.8356G>A (p.Gly2786Ser) rs1167044647
NM_000051.4(ATM):c.8356G>T (p.Gly2786Cys) rs1167044647
NM_000051.4(ATM):c.8359G>A (p.Ala2787Thr) rs1591248677
NM_000051.4(ATM):c.8359G>C (p.Ala2787Pro)
NM_000051.4(ATM):c.835A>G (p.Ile279Val) rs1555067210
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
NM_000051.4(ATM):c.8360C>G (p.Ala2787Gly) rs879253877
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8362C>A (p.His2788Asn)
NM_000051.4(ATM):c.8363A>C (p.His2788Pro) rs1555135716
NM_000051.4(ATM):c.8363A>G (p.His2788Arg) rs1555135716
NM_000051.4(ATM):c.8364T>G (p.His2788Gln) rs1591248749
NM_000051.4(ATM):c.8366A>G (p.Lys2789Arg) rs1591248788
NM_000051.4(ATM):c.8371T>A (p.Tyr2791Asn) rs1020805015
NM_000051.4(ATM):c.8372A>G (p.Tyr2791Cys) rs534914490
NM_000051.4(ATM):c.8377C>A (p.Pro2793Thr) rs1174335574
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.8380A>G (p.Asn2794Asp)
NM_000051.4(ATM):c.8382T>A (p.Asn2794Lys) rs1555135797
NM_000051.4(ATM):c.8383G>A (p.Asp2795Asn) rs1565558417
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr) rs1565558417
NM_000051.4(ATM):c.8384A>C (p.Asp2795Ala) rs2087834639
NM_000051.4(ATM):c.8386T>C (p.Phe2796Leu) rs1591249094
NM_000051.4(ATM):c.8389A>G (p.Ser2797Gly) rs761629908
NM_000051.4(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn) rs1203037698
NM_000051.4(ATM):c.8392G>T (p.Ala2798Ser) rs1591249178
NM_000051.4(ATM):c.8392_8393delinsTT (p.Ala2798Phe) rs2087837804
NM_000051.4(ATM):c.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys) rs2136952226
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro) rs879254273
NM_000051.4(ATM):c.8402G>T (p.Cys2801Phe) rs2136952675
NM_000051.4(ATM):c.8410A>C (p.Lys2804Gln) rs878853549
NM_000051.4(ATM):c.8410A>G (p.Lys2804Glu)
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
NM_000051.4(ATM):c.8415G>C (p.Met2805Ile)
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr) rs1234463032
NM_000051.4(ATM):c.8418+5G>T rs1305740166
NM_000051.4(ATM):c.8418+681A>G
NM_000051.4(ATM):c.8418+6T>C rs1555135928
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8419-11T>G
NM_000051.4(ATM):c.8419-6T>G
NM_000051.4(ATM):c.8419G>A (p.Glu2807Lys) rs1555137929
NM_000051.4(ATM):c.841G>A (p.Glu281Lys) rs1591504491
NM_000051.4(ATM):c.8421G>T (p.Glu2807Asp)
NM_000051.4(ATM):c.8422G>A (p.Val2808Met) rs876660616
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala) rs1359195708
NM_000051.4(ATM):c.8425C>G (p.Gln2809Glu) rs1555137973
NM_000051.4(ATM):c.8428A>G (p.Lys2810Glu) rs730881325
NM_000051.4(ATM):c.8429A>C (p.Lys2810Thr) rs1555137999
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del) rs587782558
NM_000051.4(ATM):c.8434T>A (p.Ser2812Thr)
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro) rs786202372
NM_000051.4(ATM):c.8434T>G (p.Ser2812Ala) rs786202372
NM_000051.4(ATM):c.8435C>A (p.Ser2812Tyr) rs1565563280
NM_000051.4(ATM):c.8435_8437del (p.Ser2812del) rs1591264086
NM_000051.4(ATM):c.8438_8449del (p.Phe2813_Lys2816del) rs2137025439
NM_000051.4(ATM):c.8440G>A (p.Glu2814Lys) rs2137025722
NM_000051.4(ATM):c.8440G>C (p.Glu2814Gln)
NM_000051.4(ATM):c.8443G>A (p.Glu2815Lys) rs1214616015
NM_000051.4(ATM):c.8446A>C (p.Lys2816Gln) rs1555138041
NM_000051.4(ATM):c.8449T>G (p.Tyr2817Asp)
NM_000051.4(ATM):c.8456T>C (p.Val2819Ala)
NM_000051.4(ATM):c.8456T>G (p.Val2819Gly) rs1565563392
NM_000051.4(ATM):c.8460C>A (p.Phe2820Leu) rs2137027437
NM_000051.4(ATM):c.8462T>C (p.Met2821Thr) rs1555138065
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg) rs1555138065
NM_000051.4(ATM):c.8464G>A (p.Asp2822Asn) rs2088274235
NM_000051.4(ATM):c.8466T>A (p.Asp2822Glu) rs1057523224
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.4(ATM):c.8471G>C (p.Cys2824Ser) rs876660927
NM_000051.4(ATM):c.8473C>G (p.Gln2825Glu) rs587781363
NM_000051.4(ATM):c.8474A>G (p.Gln2825Arg) rs1555138094
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser) rs1591264493
NM_000051.4(ATM):c.847T>G (p.Phe283Val) rs1591504549
NM_000051.4(ATM):c.8481T>G (p.Phe2827Leu) rs886047614
NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu) rs1555138125
NM_000051.4(ATM):c.8491T>G (p.Phe2831Val)
NM_000051.4(ATM):c.8492T>C (p.Phe2831Ser) rs1591264665
NM_000051.4(ATM):c.8494C>G (p.Arg2832Gly) rs587779872
NM_000051.4(ATM):c.849T>A (p.Phe283Leu) rs1060501617
NM_000051.4(ATM):c.8500T>A (p.Phe2834Ile) rs1591264768
NM_000051.4(ATM):c.8504G>A (p.Cys2835Tyr) rs759655842
NM_000051.4(ATM):c.8506A>G (p.Met2836Val) rs879253968
NM_000051.4(ATM):c.8507T>C (p.Met2836Thr) rs1591264886
NM_000051.4(ATM):c.8508G>A (p.Met2836Ile)
NM_000051.4(ATM):c.8510A>G (p.Glu2837Gly)
NM_000051.4(ATM):c.8512A>C (p.Lys2838Gln) rs2088287574
NM_000051.4(ATM):c.8512A>G (p.Lys2838Glu)
NM_000051.4(ATM):c.8513A>G (p.Lys2838Arg) rs2088287946
NM_000051.4(ATM):c.8515T>A (p.Phe2839Ile) rs876658958
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu) rs767845728
NM_000051.4(ATM):c.8519T>C (p.Leu2840Ser) rs947497737
NM_000051.4(ATM):c.8521G>A (p.Asp2841Asn) rs786203013
NM_000051.4(ATM):c.8521G>T (p.Asp2841Tyr) rs786203013
NM_000051.4(ATM):c.8522A>T (p.Asp2841Val)
NM_000051.4(ATM):c.8523T>G (p.Asp2841Glu)
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser) rs876659505
NM_000051.4(ATM):c.8525C>T (p.Pro2842Leu) rs879254065
NM_000051.4(ATM):c.8527G>T (p.Ala2843Ser) rs2137033579
NM_000051.4(ATM):c.8528C>T (p.Ala2843Val) rs1060501637
NM_000051.4(ATM):c.852A>T (p.Gln284His) rs140367473
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle) rs1555138275
NM_000051.4(ATM):c.8531T>C (p.Ile2844Thr)
NM_000051.4(ATM):c.8531T>G (p.Ile2844Ser) rs1591265172
NM_000051.4(ATM):c.8533T>C (p.Trp2845Arg) rs2137034127
NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu) rs2137034202
NM_000051.4(ATM):c.8536T>A (p.Phe2846Ile) rs1591265229
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu) rs1591265229
NM_000051.4(ATM):c.8542A>G (p.Lys2848Glu) rs1565563932
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser) rs876658716
NM_000051.4(ATM):c.854T>C (p.Leu285Pro) rs864622605
NM_000051.4(ATM):c.854T>G (p.Leu285Arg) rs864622605
NM_000051.4(ATM):c.8550G>T (p.Leu2850Phe) rs1591265370
NM_000051.4(ATM):c.8554T>A (p.Tyr2852Asn)
NM_000051.4(ATM):c.8554T>C (p.Tyr2852His) rs1064794108
NM_000051.4(ATM):c.8554T>G (p.Tyr2852Asp)
NM_000051.4(ATM):c.8555A>G (p.Tyr2852Cys)
NM_000051.4(ATM):c.8558C>A (p.Thr2853Lys) rs141534716
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.4(ATM):c.8558_8559insAAA (p.Thr2853_Arg2854insLys) rs2088301952
NM_000051.4(ATM):c.8561G>A (p.Arg2854His) rs1060501605
NM_000051.4(ATM):c.8561G>C (p.Arg2854Pro) rs1060501605
NM_000051.4(ATM):c.8564G>A (p.Ser2855Asn) rs2088303841
NM_000051.4(ATM):c.8567T>A (p.Val2856Glu) rs1060501649
NM_000051.4(ATM):c.8567T>C (p.Val2856Ala)
NM_000051.4(ATM):c.8569G>A (p.Ala2857Thr) rs1591265701
NM_000051.4(ATM):c.856C>A (p.Gln286Lys)
NM_000051.4(ATM):c.8570C>G (p.Ala2857Gly) rs2137037690
NM_000051.4(ATM):c.8573_8574insGAA (p.Thr2858_Ser2859insAsn) rs2088307936
NM_000051.4(ATM):c.8575T>A (p.Ser2859Thr) rs2088308600
NM_000051.4(ATM):c.8576C>G (p.Ser2859Cys) rs786203542
NM_000051.4(ATM):c.8578_8579delinsAT (p.Ser2860Ile)
NM_000051.4(ATM):c.8579C>G (p.Ser2860Cys) rs1158350157
NM_000051.4(ATM):c.857A>C (p.Gln286Pro) rs1591504622
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000051.4(ATM):c.8583T>G (p.Ile2861Met) rs2137038817
NM_000051.4(ATM):c.8584+3A>G
NM_000051.4(ATM):c.8584+4A>G rs1555138484
NM_000051.4(ATM):c.8584+5T>A
NM_000051.4(ATM):c.8584G>A (p.Val2862Ile)
NM_000051.4(ATM):c.8585-3C>A
NM_000051.4(ATM):c.8588G>T (p.Gly2863Val) rs786201911
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr) rs587779873
NM_000051.4(ATM):c.8594T>G (p.Ile2865Arg) rs587779873
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe) rs368666328
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro) rs1555139517
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
NM_000051.4(ATM):c.8600G>A (p.Gly2867Glu) rs2088544594
NM_000051.4(ATM):c.8602C>A (p.Leu2868Ile) rs587780642
NM_000051.4(ATM):c.8602C>G (p.Leu2868Val) rs587780642
NM_000051.4(ATM):c.8605G>A (p.Gly2869Ser) rs748855312
NM_000051.4(ATM):c.8605G>T (p.Gly2869Cys)
NM_000051.4(ATM):c.8606G>A (p.Gly2869Asp) rs1555139531
NM_000051.4(ATM):c.8606G>C (p.Gly2869Ala) rs1555139531
NM_000051.4(ATM):c.8608G>A (p.Asp2870Asn) rs55798854
NM_000051.4(ATM):c.8608G>C (p.Asp2870His)
NM_000051.4(ATM):c.8608G>T (p.Asp2870Tyr) rs55798854
NM_000051.4(ATM):c.8609A>G (p.Asp2870Gly) rs1555139540
NM_000051.4(ATM):c.8611A>G (p.Arg2871Gly) rs2088548689
NM_000051.4(ATM):c.8612G>C (p.Arg2871Thr) rs1555139547
NM_000051.4(ATM):c.8614C>G (p.His2872Asp) rs2088549387
NM_000051.4(ATM):c.8614C>T (p.His2872Tyr) rs2088549387
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8615A>T (p.His2872Leu) rs1591273938
NM_000051.4(ATM):c.8616T>A (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8616T>G (p.His2872Gln) rs1555139556
NM_000051.4(ATM):c.8618T>C (p.Val2873Ala) rs1591274020
NM_000051.4(ATM):c.8621A>C (p.Gln2874Pro) rs1565567144
NM_000051.4(ATM):c.8621A>G (p.Gln2874Arg) rs1565567144
NM_000051.4(ATM):c.8623A>G (p.Asn2875Asp)
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser) rs587782451
NM_000051.4(ATM):c.8627T>C (p.Ile2876Thr) rs2137081967
NM_000051.4(ATM):c.8628C>G (p.Ile2876Met) rs1555139577
NM_000051.4(ATM):c.8632A>C (p.Ile2878Leu) rs1591274185
NM_000051.4(ATM):c.8633T>C (p.Ile2878Thr) rs972293256
NM_000051.4(ATM):c.8634A>G (p.Ile2878Met) rs2088556289
NM_000051.4(ATM):c.8636A>G (p.Asn2879Ser) rs1565567277
NM_000051.4(ATM):c.8638G>A (p.Glu2880Lys) rs771930635
NM_000051.4(ATM):c.8639A>G (p.Glu2880Gly)
NM_000051.4(ATM):c.8639A>T (p.Glu2880Val)
NM_000051.4(ATM):c.863A>G (p.Tyr288Cys)
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg) rs1555139623
NM_000051.4(ATM):c.8643G>T (p.Gln2881His) rs1591274305
NM_000051.4(ATM):c.8644T>C (p.Ser2882Pro)
NM_000051.4(ATM):c.8652A>C (p.Glu2884Asp)
NM_000051.4(ATM):c.8653C>T (p.Leu2885Phe) rs775185939
NM_000051.4(ATM):c.8654T>A (p.Leu2885His) rs2088560069
NM_000051.4(ATM):c.8656G>C (p.Val2886Leu)
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000051.4(ATM):c.8659C>T (p.His2887Tyr) rs1591274530
NM_000051.4(ATM):c.865A>C (p.Ile289Leu) rs1555067259
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8660A>G (p.His2887Arg) rs864622173
NM_000051.4(ATM):c.8662A>C (p.Ile2888Leu)
NM_000051.4(ATM):c.8662A>T (p.Ile2888Leu) rs2088562912
NM_000051.4(ATM):c.8663T>A (p.Ile2888Lys)
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr) rs760955058
NM_000051.4(ATM):c.8663T>G (p.Ile2888Arg) rs760955058
NM_000051.4(ATM):c.8664A>G (p.Ile2888Met) rs769052707
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn) rs587781814
NM_000051.4(ATM):c.8665G>C (p.Asp2889His) rs587781814
NM_000051.4(ATM):c.8665G>T (p.Asp2889Tyr) rs587781814
NM_000051.4(ATM):c.8667T>A (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8667T>G (p.Asp2889Glu) rs1565567506
NM_000051.4(ATM):c.8668C>A (p.Leu2890Ile) rs587779874
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val) rs587779874
NM_000051.4(ATM):c.8669T>C (p.Leu2890Pro) rs2088565976
NM_000051.4(ATM):c.8669T>G (p.Leu2890Arg)
NM_000051.4(ATM):c.866T>C (p.Ile289Thr) rs35261362
NM_000051.4(ATM):c.8671+2dup rs1555139698
NM_000051.4(ATM):c.8671+4A>C rs876660652
NM_000051.4(ATM):c.8671+5G>A
NM_000051.4(ATM):c.8671+6T>C rs2088568547
NM_000051.4(ATM):c.8671+6T>G rs2088568547
NM_000051.4(ATM):c.8671G>A (p.Gly2891Ser) rs1565567541
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg) rs1565567541
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys) rs1565567541
NM_000051.4(ATM):c.8672-11C>A
NM_000051.4(ATM):c.8672-11_8672-5delinsAA rs2089488486
NM_000051.4(ATM):c.8672-11_8672-9del
NM_000051.4(ATM):c.8672-13T>G rs730881280
NM_000051.4(ATM):c.8672-3T>G rs1060501550
NM_000051.4(ATM):c.8672-5T>G rs1591306315
NM_000051.4(ATM):c.8672-6C>A rs1555142794
NM_000051.4(ATM):c.8672-6_8672-2del rs2089488857
NM_000051.4(ATM):c.8672G>C (p.Gly2891Ala)
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.4(ATM):c.8675T>C (p.Val2892Ala) rs1591306442
NM_000051.4(ATM):c.8677G>A (p.Ala2893Thr) rs1555142808
NM_000051.4(ATM):c.8677G>C (p.Ala2893Pro) rs1555142808
NM_000051.4(ATM):c.8677_8685del (p.Ala2893_Glu2895del) rs2137285531
NM_000051.4(ATM):c.8678C>A (p.Ala2893Asp) rs2089493277
NM_000051.4(ATM):c.8683G>C (p.Glu2895Gln) rs769951912
NM_000051.4(ATM):c.8686_8694del (p.Gln2896_Lys2898del) rs1060501671
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro) rs2089494486
NM_000051.4(ATM):c.8687A>G (p.Gln2896Arg) rs2089494486
NM_000051.4(ATM):c.8689G>A (p.Gly2897Ser) rs2089494758
NM_000051.4(ATM):c.8689G>T (p.Gly2897Cys) rs2089494758
NM_000051.4(ATM):c.868C>A (p.His290Asn) rs1591504685
NM_000051.4(ATM):c.868C>T (p.His290Tyr) rs1591504685
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp) rs1591306536
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu) rs2137287369
NM_000051.4(ATM):c.8695A>C (p.Ile2899Leu) rs1591306598
NM_000051.4(ATM):c.8697C>G (p.Ile2899Met) rs1333079704
NM_000051.4(ATM):c.8698C>A (p.Leu2900Ile) rs2089496713
NM_000051.4(ATM):c.869A>C (p.His290Pro) rs2135243301
NM_000051.4(ATM):c.869A>G (p.His290Arg) rs2135243301
NM_000051.4(ATM):c.869ATC[1] (p.His291del) rs2135243288
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala) rs2137288475
NM_000051.4(ATM):c.8705C>A (p.Thr2902Asn)
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile) rs1591306636
NM_000051.4(ATM):c.8707C>T (p.Pro2903Ser) rs1591306666
NM_000051.4(ATM):c.8707_8709del (p.Pro2903del)
NM_000051.4(ATM):c.870T>G (p.His290Gln)
NM_000051.4(ATM):c.8710G>A (p.Glu2904Lys)
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln) rs1591306697
NM_000051.4(ATM):c.8714C>T (p.Thr2905Ile)
NM_000051.4(ATM):c.8717_8737del (p.Val2906_Arg2912del)
NM_000051.4(ATM):c.8719C>A (p.Pro2907Thr)
NM_000051.4(ATM):c.871C>G (p.His291Asp) rs1555067280
NM_000051.4(ATM):c.871C>T (p.His291Tyr)
NM_000051.4(ATM):c.8720C>A (p.Pro2907His) rs56887719
NM_000051.4(ATM):c.8720C>G (p.Pro2907Arg) rs56887719
NM_000051.4(ATM):c.8725A>G (p.Arg2909Gly)
NM_000051.4(ATM):c.8726G>A (p.Arg2909Lys) rs759905760
NM_000051.4(ATM):c.8728C>T (p.Leu2910Phe) rs1555142851
NM_000051.4(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.4(ATM):c.8731A>C (p.Thr2911Pro) rs786203271
NM_000051.4(ATM):c.8732C>G (p.Thr2911Ser) rs794728018
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8735G>C (p.Arg2912Thr) rs2089507361
NM_000051.4(ATM):c.8737G>C (p.Asp2913His) rs756899044
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu) rs764778912
NM_000051.4(ATM):c.8740A>T (p.Ile2914Phe)
NM_000051.4(ATM):c.8743G>A (p.Val2915Met) rs2089510680
NM_000051.4(ATM):c.8746G>A (p.Asp2916Asn) rs150874041
NM_000051.4(ATM):c.8747A>T (p.Asp2916Val) rs2137293159
NM_000051.4(ATM):c.8749G>A (p.Gly2917Ser) rs2137293373
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)
NM_000051.4(ATM):c.8750G>A (p.Gly2917Asp)
NM_000051.4(ATM):c.8754G>A (p.Met2918Ile) rs2137293810
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp) rs2137294046
NM_000051.4(ATM):c.8756G>C (p.Gly2919Ala)
NM_000051.4(ATM):c.8759T>C (p.Ile2920Thr) rs1565579485
NM_000051.4(ATM):c.875C>G (p.Pro292Arg) rs747727055
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8762C>G (p.Thr2921Arg)
NM_000051.4(ATM):c.8764G>A (p.Gly2922Ser)
NM_000051.4(ATM):c.8765G>A (p.Gly2922Asp) rs2089517173
NM_000051.4(ATM):c.8765G>T (p.Gly2922Val) rs2089517173
NM_000051.4(ATM):c.8770G>A (p.Glu2924Lys) rs2137295860
NM_000051.4(ATM):c.8772A>C (p.Glu2924Asp) rs2089519648
NM_000051.4(ATM):c.8772A>T (p.Glu2924Asp)
NM_000051.4(ATM):c.8773G>A (p.Gly2925Ser) rs876658519
NM_000051.4(ATM):c.8773G>C (p.Gly2925Arg) rs876658519
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp) rs769959260
NM_000051.4(ATM):c.8774G>C (p.Gly2925Ala) rs769959260
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val) rs769959260
NM_000051.4(ATM):c.8776G>A (p.Val2926Ile) rs2137296380
NM_000051.4(ATM):c.8777T>C (p.Val2926Ala)
NM_000051.4(ATM):c.8777T>G (p.Val2926Gly) rs773329421
NM_000051.4(ATM):c.8779T>A (p.Phe2927Ile)
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys) rs1555142909
NM_000051.4(ATM):c.8786+4A>T rs2137297919
NM_000051.4(ATM):c.8787-13T>A
NM_000051.4(ATM):c.8787-3T>C rs2089687765
NM_000051.4(ATM):c.8788T>C (p.Cys2930Arg)
NM_000051.4(ATM):c.8788T>G (p.Cys2930Gly) rs876659807
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr) rs1060501572
NM_000051.4(ATM):c.8789G>T (p.Cys2930Phe) rs1060501572
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8791T>C (p.Cys2931Arg) rs2089690140
NM_000051.4(ATM):c.8792G>A (p.Cys2931Tyr) rs1060501563
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser) rs1060501563
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys) rs1240328733
NM_000051.4(ATM):c.8795A>G (p.Glu2932Gly) rs2089691352
NM_000051.4(ATM):c.879A>G (p.Lys293=) rs864622069
NM_000051.4(ATM):c.8801C>A (p.Thr2934Asn) rs1591314020
NM_000051.4(ATM):c.8801C>T (p.Thr2934Ile) rs1591314020
NM_000051.4(ATM):c.8804T>C (p.Met2935Thr) rs2137348119
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu) rs587782149
NM_000051.4(ATM):c.8815_8816delinsGC (p.Arg2939Ala)
NM_000051.4(ATM):c.8818A>G (p.Asn2940Asp) rs1565582460
NM_000051.4(ATM):c.881G>A (p.Gly294Glu) rs1370428326
NM_000051.4(ATM):c.8820C>G (p.Asn2940Lys) rs775823407
NM_000051.4(ATM):c.8821T>C (p.Ser2941Pro) rs1555143549
NM_000051.4(ATM):c.8821T>G (p.Ser2941Ala) rs1555143549
NM_000051.4(ATM):c.8822C>G (p.Ser2941Cys)
NM_000051.4(ATM):c.8822C>T (p.Ser2941Phe) rs1591314282
NM_000051.4(ATM):c.8826G>C (p.Gln2942His) rs2137351461
NM_000051.4(ATM):c.8831C>T (p.Thr2944Ile) rs1555143562
NM_000051.4(ATM):c.8833C>G (p.Leu2945Val) rs786203505
NM_000051.4(ATM):c.8837T>C (p.Leu2946Ser) rs2137352720
NM_000051.4(ATM):c.8839A>G (p.Thr2947Ala)
NM_000051.4(ATM):c.8839A>T (p.Thr2947Ser) rs760950400
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn) rs1555143579
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val) rs1333760745
NM_000051.4(ATM):c.8842A>T (p.Ile2948Phe)
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.8844T>G (p.Ile2948Met) rs878853551
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile) rs587782497
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8846T>G (p.Val2949Gly)
NM_000051.4(ATM):c.8848G>C (p.Glu2950Gln)
NM_000051.4(ATM):c.8848_8850+3del rs2137353827
NM_000051.4(ATM):c.884C>T (p.Ala295Val) rs1044092081
NM_000051.4(ATM):c.8850+13A>C
NM_000051.4(ATM):c.8850+17G>C
NM_000051.4(ATM):c.8850+4A>G rs587782335
NM_000051.4(ATM):c.8850+5A>C rs1057522186
NM_000051.4(ATM):c.8850+5A>G rs1057522186
NM_000051.4(ATM):c.8850+5A>T rs1057522186
NM_000051.4(ATM):c.8850+5dup rs1400626849
NM_000051.4(ATM):c.8850+6G>C rs2089704921
NM_000051.4(ATM):c.8851-1G>C rs1057516537
NM_000051.4(ATM):c.8851-3T>C rs748874219
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.4(ATM):c.8851G>T (p.Val2951Phe)
NM_000051.4(ATM):c.8852T>A (p.Val2951Asp)
NM_000051.4(ATM):c.8854C>A (p.Leu2952Ile)
NM_000051.4(ATM):c.8854C>G (p.Leu2952Val) rs1555151218
NM_000051.4(ATM):c.8855T>C (p.Leu2952Pro) rs1591384283
NM_000051.4(ATM):c.8857C>G (p.Leu2953Val) rs2137870068
NM_000051.4(ATM):c.8860T>A (p.Tyr2954Asn)
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8860T>G (p.Tyr2954Asp)
NM_000051.4(ATM):c.8863_8865del (p.Asp2955del) rs587780644
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.4(ATM):c.8869C>G (p.Leu2957Val) rs2137872203
NM_000051.4(ATM):c.886A>G (p.Lys296Glu) rs1591504793
NM_000051.4(ATM):c.8870T>G (p.Leu2957Arg) rs1555151255
NM_000051.4(ATM):c.8872T>C (p.Phe2958Leu)
NM_000051.4(ATM):c.8874_8930dup (p.Asp2976_Glu2977insAspAspTrpThrMetAsnProLeuLysAlaLeuTyrLeuGlnGlnArgProGluAsp)
NM_000051.4(ATM):c.8875G>A (p.Asp2959Asn)
NM_000051.4(ATM):c.8878T>A (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg) rs1064794739
NM_000051.4(ATM):c.8878_8879delinsCT (p.Trp2960Leu)
NM_000051.4(ATM):c.887A>G (p.Lys296Arg) rs1064795297
NM_000051.4(ATM):c.8880G>C (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8880G>T (p.Trp2960Cys) rs1060501650
NM_000051.4(ATM):c.8881A>G (p.Thr2961Ala) rs1565607505
NM_000051.4(ATM):c.8882C>G (p.Thr2961Ser)
NM_000051.4(ATM):c.8882C>T (p.Thr2961Ile) rs1591384581
NM_000051.4(ATM):c.8886G>A (p.Met2962Ile) rs2137874845
NM_000051.4(ATM):c.888A>C (p.Lys296Asn) rs1023530965
NM_000051.4(ATM):c.8891C>A (p.Pro2964His)
NM_000051.4(ATM):c.8891C>T (p.Pro2964Leu)
NM_000051.4(ATM):c.8894T>G (p.Leu2965Trp) rs1555151299
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.88T>A (p.Phe30Ile) rs2078817952
NM_000051.4(ATM):c.8900C>T (p.Ala2967Val)
NM_000051.4(ATM):c.8904G>T (p.Leu2968Phe) rs1555151326
NM_000051.4(ATM):c.8905T>C (p.Tyr2969His) rs1591384712
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8912A>G (p.Gln2971Arg) rs1060501714
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met) rs730881331
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser) rs786203613
NM_000051.4(ATM):c.8919G>T (p.Arg2973Ser) rs786203613
NM_000051.4(ATM):c.8920C>T (p.Pro2974Ser) rs984616023
NM_000051.4(ATM):c.8921C>A (p.Pro2974Gln) rs139379666
NM_000051.4(ATM):c.8921_8922insTTC (p.Pro2974_Glu2975insSer) rs2091207598
NM_000051.4(ATM):c.8926G>T (p.Asp2976Tyr)
NM_000051.4(ATM):c.8933C>G (p.Thr2978Ser) rs765446164
NM_000051.4(ATM):c.8933C>T (p.Thr2978Ile)
NM_000051.4(ATM):c.8938C>G (p.Leu2980Val) rs786203721
NM_000051.4(ATM):c.8939T>G (p.Leu2980Arg)
NM_000051.4(ATM):c.893A>C (p.Gln298Pro) rs2079775401
NM_000051.4(ATM):c.8941C>T (p.His2981Tyr) rs1555151422
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8943C>G (p.His2981Gln) rs876660594
NM_000051.4(ATM):c.8944C>A (p.Pro2982Thr) rs1485620194
NM_000051.4(ATM):c.8944C>G (p.Pro2982Ala)
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile) rs1472935232
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val) rs747445236
NM_000051.4(ATM):c.8955T>A (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8955T>G (p.Asn2985Lys) rs755561691
NM_000051.4(ATM):c.8959G>C (p.Asp2987His) rs863224582
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.8960A>G (p.Asp2987Gly) rs2091213427
NM_000051.4(ATM):c.8960A>T (p.Asp2987Val)
NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg) rs1555151490
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln) rs1800558
NM_000051.4(ATM):c.896A>G (p.Glu299Gly) rs587779876
NM_000051.4(ATM):c.896A>T (p.Glu299Val) rs587779876
NM_000051.4(ATM):c.8971T>C (p.Cys2991Arg) rs1591385376
NM_000051.4(ATM):c.8972G>A (p.Cys2991Tyr) rs1555151500
NM_000051.4(ATM):c.8977C>G (p.Arg2993Gly) rs770641163
NM_000051.4(ATM):c.8981A>C (p.Asn2994Thr) rs2091216343
NM_000051.4(ATM):c.8981A>G (p.Asn2994Ser) rs2091216343
NM_000051.4(ATM):c.8982T>A (p.Asn2994Lys) rs2137888159
NM_000051.4(ATM):c.8987G>A (p.Ser2996Asn) rs1555151525
NM_000051.4(ATM):c.8987G>C (p.Ser2996Thr)
NM_000051.4(ATM):c.8988-15T>A
NM_000051.4(ATM):c.8988-3T>C rs1565608600
NM_000051.4(ATM):c.8988-6_8988-4del rs767175242
NM_000051.4(ATM):c.8988-8dup rs1591386308
NM_000051.4(ATM):c.8989G>A (p.Asp2997Asn) rs2091232028
NM_000051.4(ATM):c.8990A>G (p.Asp2997Gly)
NM_000051.4(ATM):c.8992A>G (p.Ile2998Val) rs1565608692
NM_000051.4(ATM):c.8993T>A (p.Ile2998Asn) rs778670498
NM_000051.4(ATM):c.8996A>T (p.Asp2999Val) rs1555151684
NM_000051.4(ATM):c.8998C>G (p.Gln3000Glu) rs587781698
NM_000051.4(ATM):c.8999A>G (p.Gln3000Arg) rs2137905294
NM_000051.4(ATM):c.89T>A (p.Phe30Tyr) rs876658520
NM_000051.4(ATM):c.89T>G (p.Phe30Cys) rs876658520
NM_000051.4(ATM):c.8T>C (p.Leu3Pro) rs1555053861
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9002G>C (p.Ser3001Thr) rs587781413
NM_000051.4(ATM):c.9005T>A (p.Phe3002Tyr) rs1565608780
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu) rs540172506
NM_000051.4(ATM):c.9007A>G (p.Asn3003Asp) rs1137889
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.4(ATM):c.9008A>T (p.Asn3003Ile)
NM_000051.4(ATM):c.901+10A>T rs2135244818
NM_000051.4(ATM):c.901+3A>G rs786203070
NM_000051.4(ATM):c.901+4T>A
NM_000051.4(ATM):c.901+4T>G rs1591504958
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu) rs1555151737
NM_000051.4(ATM):c.9013G>C (p.Val3005Leu) rs1555151745
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala) rs876659968
NM_000051.4(ATM):c.9016G>A (p.Ala3006Thr) rs876658767
NM_000051.4(ATM):c.9019_9021dup (p.Glu3007_Arg3008insGlu)
NM_000051.4(ATM):c.901G>C (p.Gly301Arg) rs1064797160
NM_000051.4(ATM):c.902-3C>A
NM_000051.4(ATM):c.902-3C>T
NM_000051.4(ATM):c.902-9G>A
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9026T>C (p.Val3009Ala)
NM_000051.4(ATM):c.9026T>G (p.Val3009Gly) rs1565608934
NM_000051.4(ATM):c.9029T>C (p.Leu3010Ser) rs2137909752
NM_000051.4(ATM):c.902G>T (p.Gly301Val) rs202208861
NM_000051.4(ATM):c.9030_9032del (p.Met3011del)
NM_000051.4(ATM):c.9031A>T (p.Met3011Leu) rs372795527
NM_000051.4(ATM):c.9032T>A (p.Met3011Lys) rs1555151804
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr) rs1555151804
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg) rs1555151804
NM_000051.4(ATM):c.9033G>A (p.Met3011Ile)
NM_000051.4(ATM):c.9038T>C (p.Leu3013Pro)
NM_000051.4(ATM):c.9040C>A (p.Gln3014Lys)
NM_000051.4(ATM):c.9042A>T (p.Gln3014His) rs1060504291
NM_000051.4(ATM):c.9043G>A (p.Glu3015Lys) rs1591387120
NM_000051.4(ATM):c.9044A>G (p.Glu3015Gly) rs1565609065
NM_000051.4(ATM):c.9045G>C (p.Glu3015Asp) rs786203336
NM_000051.4(ATM):c.9046A>G (p.Lys3016Glu) rs2091242377
NM_000051.4(ATM):c.9047A>C (p.Lys3016Thr) rs2137912584
NM_000051.4(ATM):c.9050T>G (p.Leu3017Arg) rs786204218
NM_000051.4(ATM):c.9052A>C (p.Lys3018Gln)
NM_000051.4(ATM):c.9052A>G (p.Lys3018Glu) rs2091243577
NM_000051.4(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser) rs879253964
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.4(ATM):c.9068G>T (p.Gly3023Val) rs769548726
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000051.4(ATM):c.9071C>G (p.Thr3024Ser) rs786203183
NM_000051.4(ATM):c.9073G>A (p.Val3025Met) rs1555151925
NM_000051.4(ATM):c.9073G>T (p.Val3025Leu) rs1555151925
NM_000051.4(ATM):c.9074T>C (p.Val3025Ala) rs2137916904
NM_000051.4(ATM):c.9076C>T (p.Leu3026Phe)
NM_000051.4(ATM):c.9077T>A (p.Leu3026His) rs1565609286
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg) rs1565609286
NM_000051.4(ATM):c.9079A>C (p.Ser3027Arg) rs763152094
NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly) rs763152094
NM_000051.4(ATM):c.9080G>A (p.Ser3027Asn) rs1565609342
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr) rs1565609342
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile) rs1565609342
NM_000051.4(ATM):c.9082G>A (p.Val3028Ile) rs876660251
NM_000051.4(ATM):c.9083T>C (p.Val3028Ala) rs2137918557
NM_000051.4(ATM):c.9084TGG[1] (p.Gly3030del) rs1591387676
NM_000051.4(ATM):c.9085G>C (p.Gly3029Arg)
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val) rs201199629
NM_000051.4(ATM):c.9088G>C (p.Gly3030Arg) rs879254215
NM_000051.4(ATM):c.9089G>A (p.Gly3030Glu) rs876658529
NM_000051.4(ATM):c.9089G>T (p.Gly3030Val) rs876658529
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)
NM_000051.4(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu) rs1555151979
NM_000051.4(ATM):c.9094G>A (p.Val3032Met) rs587779877
NM_000051.4(ATM):c.9095_9121del (p.Val3032_Ile3040del) rs2091250755
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser) rs1555151991
NM_000051.4(ATM):c.9101T>G (p.Leu3034Trp) rs1555151992
NM_000051.4(ATM):c.9103C>G (p.Leu3035Val) rs866769874
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000051.4(ATM):c.9104T>A (p.Leu3035His) rs1272213516
NM_000051.4(ATM):c.9106A>C (p.Ile3036Leu)
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val) rs1565609567
NM_000051.4(ATM):c.9111G>T (p.Gln3037His) rs1555152012
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu) rs1131691391
NM_000051.4(ATM):c.9114G>C (p.Gln3038His) rs2091254206
NM_000051.4(ATM):c.9115G>C (p.Ala3039Pro)
NM_000051.4(ATM):c.911A>C (p.Glu304Ala) rs2135264712
NM_000051.4(ATM):c.9125C>T (p.Pro3042Leu) rs2137925225
NM_000051.4(ATM):c.9127A>G (p.Lys3043Glu) rs1591388080
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)
NM_000051.4(ATM):c.9133C>G (p.Leu3045Val) rs1555152033
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.4(ATM):c.9134T>C (p.Leu3045Pro) rs1591388159
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly) rs1555152041
NM_000051.4(ATM):c.9138C>G (p.Ser3046Arg) rs1591388202
NM_000051.4(ATM):c.9140G>A (p.Arg3047Gln) rs1047129530
NM_000051.4(ATM):c.9140G>T (p.Arg3047Leu)
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000051.4(ATM):c.9145T>C (p.Phe3049Leu)
NM_000051.4(ATM):c.9147C>A (p.Phe3049Leu) rs2091258043
NM_000051.4(ATM):c.9148C>T (p.Pro3050Ser) rs2137928327
NM_000051.4(ATM):c.9151G>A (p.Gly3051Arg)
NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu) rs1555152073
NM_000051.4(ATM):c.9152G>C (p.Gly3051Ala) rs1555152073
NM_000051.4(ATM):c.9152G>T (p.Gly3051Val) rs1555152073
NM_000051.4(ATM):c.9154T>C (p.Trp3052Arg) rs2091259011
NM_000051.4(ATM):c.9155G>A (p.Trp3052Ter)
NM_000051.4(ATM):c.9155G>C (p.Trp3052Ser) rs1591388369
NM_000051.4(ATM):c.9156G>A (p.Trp3052Ter) rs587781711
NM_000051.4(ATM):c.9157A>C (p.Lys3053Gln) rs1555152104
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter) rs1555152104
NM_000051.4(ATM):c.9160G>A (p.Ala3054Thr) rs1565609869
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro) rs1565609869
NM_000051.4(ATM):c.9160_9161delinsTA (p.Ala3054Tyr) rs2137930126
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
NM_000051.4(ATM):c.9161C>G (p.Ala3054Gly) rs1555152117
NM_000051.4(ATM):c.9161C>T (p.Ala3054Val) rs1555152117
NM_000051.4(ATM):c.9163T>G (p.Trp3055Gly)
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_000051.4(ATM):c.9164G>T (p.Trp3055Leu)
NM_000051.4(ATM):c.9165G>A (p.Trp3055Ter)
NM_000051.4(ATM):c.9166G>C (p.Val3056Leu)
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg) rs2091262473
NM_000051.4(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.4(ATM):c.9171A>T (p.Ter3057Cys) rs2091262986
NM_000051.4(ATM):c.917C>A (p.Thr306Lys) rs1565374923
NM_000051.4(ATM):c.917C>T (p.Thr306Ile) rs1565374923
NM_000051.4(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.4(ATM):c.922T>A (p.Trp308Arg) rs2079878501
NM_000051.4(ATM):c.922T>C (p.Trp308Arg) rs2079878501
NM_000051.4(ATM):c.925A>G (p.Arg309Gly) rs876659841
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>T (p.Arg309Ser) rs935834518
NM_000051.4(ATM):c.928A>C (p.Ser310Arg)
NM_000051.4(ATM):c.929G>A (p.Ser310Asn) rs2079879169
NM_000051.4(ATM):c.932T>C (p.Ile311Thr) rs1462079674
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
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.946T>A (p.Tyr316Asn) rs142317485
NM_000051.4(ATM):c.949G>C (p.Asp317His)
NM_000051.4(ATM):c.949G>T (p.Asp317Tyr) rs1445292591
NM_000051.4(ATM):c.94C>A (p.Arg32Ser) rs148061139
NM_000051.4(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.4(ATM):c.953T>G (p.Leu318Arg)
NM_000051.4(ATM):c.954_956del (p.Leu319del) rs2135266014
NM_000051.4(ATM):c.956T>C (p.Leu319Pro)
NM_000051.4(ATM):c.959T>A (p.Val320Glu)
NM_000051.4(ATM):c.95G>T (p.Arg32Leu) rs368161489
NM_000051.4(ATM):c.961A>G (p.Asn321Asp) rs1591510765
NM_000051.4(ATM):c.962A>G (p.Asn321Ser) rs1555068398
NM_000051.4(ATM):c.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.971G>A (p.Ser324Asn) rs1355502804
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.976A>G (p.Ile326Val) rs1555068422
NM_000051.4(ATM):c.978A>G (p.Ile326Met) rs1555068424
NM_000051.4(ATM):c.979G>A (p.Gly327Arg)
NM_000051.4(ATM):c.980G>A (p.Gly327Glu) rs1591510902
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.988G>A (p.Gly330Arg) rs2135267332
NM_000051.4(ATM):c.989G>A (p.Gly330Glu) rs762179829
NM_000051.4(ATM):c.98T>C (p.Leu33Pro) rs2078818941
NM_000051.4(ATM):c.991A>G (p.Lys331Glu) rs1555068451
NM_000051.4(ATM):c.992A>T (p.Lys331Met) rs2079885179
NM_000051.4(ATM):c.993G>T (p.Lys331Asn) rs786202048
NM_000051.4(ATM):c.995A>G (p.Tyr332Cys) rs1060501664
NM_000051.4(ATM):c.995A>T (p.Tyr332Phe) rs1060501664

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