ClinVar Miner

List of variants in gene ATM reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 814
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 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.670A>G (p.Lys224Glu) rs145053092 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.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 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.610G>A (p.Gly204Arg) rs147915571 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.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 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.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser) rs368209025 0.00004
NM_000051.4(ATM):c.1837G>T (p.Val613Leu) rs200124136 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.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.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His) rs201594549 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg) rs587779812 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg) rs587782141 0.00003
NM_000051.4(ATM):c.2057T>A (p.Leu686His) rs1239416977 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe) rs730881345 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala) rs926246315 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala) rs552010421 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly) rs761251711 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951 0.00003
NM_000051.4(ATM):c.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.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) rs730881369 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.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.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser) rs587779850 0.00003
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr) rs766901049 0.00003
NM_000051.4(ATM):c.5725A>G (p.Met1909Val) rs750561317 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.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.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser) rs141947469 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 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.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.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.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.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.4921G>C (p.Asp1641His) rs587782896 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met) rs372694758 0.00002
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly) rs746945284 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys) rs730881375 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 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.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.1112C>T (p.Thr371Ile) rs879254289 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.1225C>T (p.Leu409Phe) rs786203815 0.00001
NM_000051.4(ATM):c.1235+5A>T rs1064793679 0.00001
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro) rs376196220 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.134G>A (p.Arg45Gln) rs762382111 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe) rs776412334 0.00001
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly) rs766595156 0.00001
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser) rs56365018 0.00001
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu) rs864622262 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1671G>A (p.Met557Ile) rs730881341 0.00001
NM_000051.4(ATM):c.1688T>G (p.Met563Arg) rs750815208 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1726A>G (p.Ile576Val) rs1064795170 0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu) rs765847854 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.1870A>G (p.Met624Val) rs863224557 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 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.2027C>A (p.Ser676Tyr) rs1219097850 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.210A>T (p.Lys70Asn) rs1064793030 0.00001
NM_000051.4(ATM):c.2125-11T>A rs1054208254 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.2251-7A>G rs879254103 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.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.2374A>G (p.Lys792Glu) rs1423446897 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.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.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.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe) rs730881351 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 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.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.2983C>T (p.Leu995Phe) rs587779831 0.00001
NM_000051.4(ATM):c.3001C>G (p.Leu1001Val) rs377244521 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.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.3194G>A (p.Gly1065Glu) rs762810180 0.00001
NM_000051.4(ATM):c.322G>A (p.Ala108Thr) rs730881370 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_000051.4(ATM):c.3283A>C (p.Arg1095=) rs876660302 0.00001
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu) rs876658491 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 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.3365A>G (p.Asn1122Ser) rs745863765 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.3478G>C (p.Val1160Leu) rs567344545 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.3532A>G (p.Lys1178Glu) rs1555091359 0.00001
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu) rs879254024 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.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 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.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.3857G>T (p.Cys1286Phe) rs876660770 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe) rs587778074 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 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.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.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4110-9C>A rs730881367 0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu) rs1064794484 0.00001
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn) rs786203761 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe) rs863224572 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.4510A>G (p.Thr1504Ala) rs767466937 0.00001
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile) rs1064793811 0.00001
NM_000051.4(ATM):c.4553A>C (p.His1518Pro) rs762132832 0.00001
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu) rs141329176 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.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala) rs786202473 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr) rs2083038225 0.00001
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) rs765759912 0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu) rs786203857 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu) rs752459491 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val) rs778632065 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5049C>A (p.Phe1683Leu) rs1183084231 0.00001
NM_000051.4(ATM):c.5054C>T (p.Thr1685Ile) rs879254191 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.506C>G (p.Ser169Cys) rs587779843 0.00001
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn) rs767841041 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 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.5178T>G (p.Cys1726Trp) rs1446243372 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.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val) rs768820804 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg) rs562930561 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala) rs1034908940 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.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu) rs751327903 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met) rs587780628 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.5675-10T>G rs377599533 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.5747T>C (p.Met1916Thr) rs1060501557 0.00001
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00001
NM_000051.4(ATM):c.5G>A (p.Ser2Asn) rs730881360 0.00001
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu) rs762998620 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 0.00001
NM_000051.4(ATM):c.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.86A>C (p.Lys29Thr) rs147009251 0.00001
NM_000051.4(ATM):c.884C>A (p.Ala295Asp) rs1044092081 0.00001
NM_000051.4(ATM):c.931A>G (p.Ile311Val) rs876658322 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.4(ATM):c.989G>C (p.Gly330Ala) rs762179829 0.00001
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.-32_-31dup rs876661223
NM_000051.4(ATM):c.-34A>G rs563999137
NM_000051.4(ATM):c.1012A>C (p.Asn338His) rs751800302
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly) rs730881387
NM_000051.4(ATM):c.1036A>G (p.Ile346Val) rs1565375699
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu) rs1555068567
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe) rs879254039
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>T (p.Asp351Val) rs1057521618
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
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.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.4(ATM):c.1104A>C (p.Gln368His) rs560691658
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile) rs765912563
NM_000051.4(ATM):c.1165A>G (p.Ile389Val) rs1060501704
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833
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.1226T>C (p.Leu409Pro) rs1064793442
NM_000051.4(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.4(ATM):c.1228G>A (p.Val410Met) rs863224555
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.1257A>C (p.Leu419Phe)
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys) rs1064796159
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn) rs1350528190
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
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.1307T>A (p.Leu436Gln) rs1060501608
NM_000051.4(ATM):c.1310T>C (p.Met437Thr) rs587779814
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro) rs1064794732
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys) rs587782121
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1373G>C (p.Cys458Ser) rs1064796013
NM_000051.4(ATM):c.1375C>G (p.Leu459Val) rs1064794635
NM_000051.4(ATM):c.138T>G (p.His46Gln) rs770834907
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg) rs1060501628
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr) rs1555070953
NM_000051.4(ATM):c.1438T>G (p.Leu480Val) rs879254243
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) rs1800054
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr) rs2080115491
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.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.1575G>T (p.Lys525Asn) rs587780613
NM_000051.4(ATM):c.1610C>A (p.Pro537His) rs587782463
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.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1650A>G (p.Ile550Met) rs1060501606
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>T (p.Gly558Val) rs1064795257
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.1738C>T (p.Leu580Phe) rs1555071952
NM_000051.4(ATM):c.1745T>A (p.Phe582Tyr) rs1064794747
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser) rs879254227
NM_000051.4(ATM):c.1764C>G (p.Asp588Glu) rs2135343562
NM_000051.4(ATM):c.1772A>G (p.Asn591Ser) rs1064794804
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.4(ATM):c.1799A>G (p.His600Arg) rs2080180530
NM_000051.4(ATM):c.1803-7T>C rs2135352285
NM_000051.4(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.4(ATM):c.1834C>G (p.Leu612Val) rs747242300
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro) rs1555072474
NM_000051.4(ATM):c.184A>G (p.Arg62Gly) rs876659407
NM_000051.4(ATM):c.185+3A>G rs1372755571
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg) rs2080230578
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
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.1898+3_1898+4del rs879254094
NM_000051.4(ATM):c.1899-16T>A rs1352009139
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.194A>G (p.Gln65Arg) rs760471526
NM_000051.4(ATM):c.1972G>C (p.Asp658His) rs1343017824
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.2009G>A (p.Gly670Asp) 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.2052G>C (p.Gln684His) rs775890872
NM_000051.4(ATM):c.2071G>C (p.Asp691His) rs762394404
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000051.4(ATM):c.2086G>A (p.Gly696Arg) rs879254178
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu) rs752550257
NM_000051.4(ATM):c.2125-4T>C rs1064795623
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.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2130A>G (p.Thr710=) rs2080472731
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2200G>T (p.Val734Leu) rs1390127104
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys) rs1565395076
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr) rs2135394428
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr) rs1064793558
NM_000051.4(ATM):c.2267C>T (p.Ala756Val)
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.4(ATM):c.2276G>C (p.Ser759Thr)
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg) rs2080576982
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp) rs1555075727
NM_000051.4(ATM):c.233C>G (p.Ala78Gly) rs876659669
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.2377-6T>A rs876660963
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr) rs201793499
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser) rs751218526
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
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.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn) rs587778067
NM_000051.4(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2467-12T>C rs1469467036
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser) rs2229022
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu) rs879254208
NM_000051.4(ATM):c.2501A>G (p.Glu834Gly) rs730881349
NM_000051.4(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser) rs1555082164
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2539A>G (p.Met847Val) rs587779823
NM_000051.4(ATM):c.2542G>A (p.Glu848Lys) rs879254046
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser) rs1565416655
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.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2611G>A (p.Glu871Lys) rs1591588632
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser) rs1591593623
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln) rs879254083
NM_000051.4(ATM):c.2666A>G (p.Tyr889Cys) rs1064793034
NM_000051.4(ATM):c.2699T>C (p.Met900Thr) rs863224558
NM_000051.4(ATM):c.2705A>C (p.Lys902Thr) rs730881352
NM_000051.4(ATM):c.2705A>G (p.Lys902Arg) rs730881352
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2717T>C (p.Leu906Ser) rs1064794688
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile) rs1266220962
NM_000051.4(ATM):c.2744C>A (p.Thr915Asn) rs876660912
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn) rs2081390566
NM_000051.4(ATM):c.2785A>G (p.Met929Val) rs774067793
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr) rs1060501698
NM_000051.4(ATM):c.2798C>A (p.Ser933Tyr) rs56087610
NM_000051.4(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2807T>C (p.Leu936Pro) rs2135526773
NM_000051.4(ATM):c.2834A>G (p.His945Arg) rs752053874
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.4(ATM):c.2868A>G (p.Gly956=) rs2135547882
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu) rs587779828
NM_000051.4(ATM):c.2893G>C (p.Asp965His) rs1064793035
NM_000051.4(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.4(ATM):c.2917C>A (p.Leu973Ile)
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro) rs1555084757
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.2939A>T (p.Tyr980Phe) rs1064794211
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2954A>T (p.Asp985Val) rs864622159
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.4(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.4(ATM):c.299_307del (p.Leu100_Lys102del) rs879254161
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys) rs1387785337
NM_000051.4(ATM):c.3045A>C (p.Gln1015His) rs1064796404
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.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro) rs1555085776
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly) rs758708495
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys) rs2081639925
NM_000051.4(ATM):c.3107T>C (p.Phe1036Ser)
NM_000051.4(ATM):c.3128T>G (p.Val1043Gly) rs730881356
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe) rs1591608576
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala) rs876659217
NM_000051.4(ATM):c.3154G>A (p.Ala1052Thr) rs1064793036
NM_000051.4(ATM):c.3161C>A (p.Pro1054His) rs1800057
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.3196A>C (p.Lys1066Gln) rs1555086041
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr) rs766342338
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.4(ATM):c.3278T>G (p.Ile1093Ser) rs2135573226
NM_000051.4(ATM):c.3285-9_3285-5delinsGTTC rs1064796108
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)
NM_000051.4(ATM):c.3305G>A (p.Gly1102Glu) rs2135642803
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn) rs1555090114
NM_000051.4(ATM):c.3317G>C (p.Arg1106Thr)
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala) 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.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg) rs755828033
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val) rs778882461
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His) rs2082121841
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.3403-12_3403-4delinsATTTC
NM_000051.4(ATM):c.3403-9C>A rs375483605
NM_000051.4(ATM):c.3420C>A (p.Asn1140Lys)
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser) rs879253949
NM_000051.4(ATM):c.3434A>C (p.Asp1145Ala) rs1183646267
NM_000051.4(ATM):c.3435T>A (p.Asp1145Glu) rs2082204446
NM_000051.4(ATM):c.3435T>G (p.Asp1145Glu) rs2082204446
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val) rs769853739
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly) rs1351059730
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu) rs876659067
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.4(ATM):c.3545A>T (p.Glu1182Val) rs1555091393
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.4(ATM):c.3576+3A>G rs2082214908
NM_000051.4(ATM):c.3577-14_3577-12del rs730881288
NM_000051.4(ATM):c.3577-7C>A rs558667657
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe) rs2135686922
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.4(ATM):c.3614G>T (p.Arg1205Leu)
NM_000051.4(ATM):c.3634T>G (p.Ser1212Ala) rs1131691390
NM_000051.4(ATM):c.3635_3646del (p.Ser1212_Asp1215del) rs1064795717
NM_000051.4(ATM):c.3637C>T (p.His1213Tyr) rs1064793387
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln) rs1565444811
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) rs1064795822
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del) rs1591641635
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.3724A>G (p.Thr1242Ala) rs1591641743
NM_000051.4(ATM):c.3728A>T (p.Asn1243Ile) rs730881363
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser) rs1064793581
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3803T>C (p.Val1268Ala) rs1269513731
NM_000051.4(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg) rs863224565
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
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.3943G>T (p.Ala1315Ser) rs1064794757
NM_000051.4(ATM):c.3961A>G (p.Met1321Val) rs730881366
NM_000051.4(ATM):c.3965T>A (p.Leu1322His) rs786203306
NM_000051.4(ATM):c.3967A>G (p.Lys1323Glu) rs1341465811
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu) rs1064793534
NM_000051.4(ATM):c.399T>A (p.Asn133Lys) rs1555059218
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.4(ATM):c.4022C>T (p.Pro1341Leu) rs1555095890
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly) rs917721053
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys) rs761123780
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala) rs587779837
NM_000051.4(ATM):c.4118A>T (p.Asp1373Val)
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala) rs863224571
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala) rs1555096817
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.4172C>T (p.Ala1391Val) rs1591660560
NM_000051.4(ATM):c.418G>C (p.Asp140His) rs55633650
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.421T>G (p.Cys141Gly) rs1565357020
NM_000051.4(ATM):c.4226C>A (p.Ser1409Tyr) rs730881368
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr) rs745890227
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr) rs1337392659
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys) rs876660540
NM_000051.4(ATM):c.427A>G (p.Asn143Asp) rs587781688
NM_000051.4(ATM):c.4303A>C (p.Lys1435Gln) rs876660964
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr) rs1469317936
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met) rs587779839
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu) rs1060501683
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro) rs750306932
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val) rs376165779
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.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe) rs1064793476
NM_000051.4(ATM):c.4514C>T (p.Ala1505Val) rs1064795883
NM_000051.4(ATM):c.4516G>A (p.Val1506Met) rs760542469
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg) rs1064795574
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile) rs141329176
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser) rs1064795495
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile) rs1555099959
NM_000051.4(ATM):c.4599G>C (p.Glu1533Asp)
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu) rs1064794041
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met) rs966733287
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.4691C>A (p.Pro1564His) rs1064793971
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile) rs1591677692
NM_000051.4(ATM):c.4768C>G (p.Leu1590Val) rs35962982
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.4(ATM):c.482A>G (p.Gln161Arg) rs587780625
NM_000051.4(ATM):c.483G>C (p.Gln161His) rs864622742
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile) rs933030670
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.498A>C (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.5000T>G (p.Val1667Gly) rs2135864002
NM_000051.4(ATM):c.5005+19C>G rs1064794787
NM_000051.4(ATM):c.5006-12T>G rs2083315314
NM_000051.4(ATM):c.5006-14del rs879254277
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.5017A>G (p.Ser1673Gly) rs2135888197
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn) rs878853515
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu) rs1565473530
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu) rs878853516
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val) rs1064794124
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr) rs1307715383
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly) rs980731959
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.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5072G>C (p.Ser1691Thr) rs1064795911
NM_000051.4(ATM):c.5089A>C (p.Thr1697Pro) rs142455912
NM_000051.4(ATM):c.508G>T (p.Val170Leu) rs786202781
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.4(ATM):c.514T>C (p.Phe172Leu) rs786201608
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr) rs1555104799
NM_000051.4(ATM):c.5178-4dup rs747750958
NM_000051.4(ATM):c.5178-7T>C rs1555105564
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro) rs1064793038
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr) rs730881372
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu) rs1064793957
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val) rs879254135
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg) rs876658175
NM_000051.4(ATM):c.5246T>A (p.Phe1749Tyr) rs1591708790
NM_000051.4(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.4(ATM):c.5269A>G (p.Thr1757Ala) rs1591708923
NM_000051.4(ATM):c.527T>A (p.Leu176Gln) rs1555066315
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.4(ATM):c.5319+3C>T rs371640963
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn) rs2083446824
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG rs1064792939
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.5329_5349dup (p.Val1777_Glu1783dup) rs587779847
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala) rs587779848
NM_000051.4(ATM):c.536C>T (p.Ser179Leu) rs2079698324
NM_000051.4(ATM):c.5377A>C (p.Asn1793His) rs730881374
NM_000051.4(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val) rs879254274
NM_000051.4(ATM):c.539A>G (p.Gln180Arg) rs730881334
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr) rs1555106445
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.5450G>A (p.Gly1817Glu) rs2083506323
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln) rs2083509111
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile) rs779720793
NM_000051.4(ATM):c.5497-3T>G rs1064795486
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val) rs876660472
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly) rs587781390
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly) rs1555107329
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile) rs779156037
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.4(ATM):c.5618G>C (p.Cys1873Ser)
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe) rs587782239
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.4(ATM):c.5663A>T (p.Asn1888Ile)
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5677T>A (p.Ser1893Thr) rs730881376
NM_000051.4(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.4(ATM):c.56G>A (p.Arg19Lys) rs1064793029
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.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.578C>G (p.Ala193Gly) rs1064793928
NM_000051.4(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.4(ATM):c.589G>A (p.Gly197Arg) rs764080545
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr) rs879254127
NM_000051.4(ATM):c.5G>C (p.Ser2Thr) rs730881360
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.4(ATM):c.630G>T (p.Leu210Phe)
NM_000051.4(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.4(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.697T>G (p.Leu233Val)
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.773T>G (p.Ile258Ser) rs730881337
NM_000051.4(ATM):c.785T>C (p.Leu262Ser) rs864622163
NM_000051.4(ATM):c.791A>G (p.Tyr264Cys) rs730881338
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.800C>G (p.Thr267Ser) rs2135241349
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
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.838A>G (p.Ile280Val) rs764048041
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.881G>T (p.Gly294Val)
NM_000051.4(ATM):c.887A>G (p.Lys296Arg) rs1064795297
NM_000051.4(ATM):c.898A>G (p.Lys300Glu) rs2135244347
NM_000051.4(ATM):c.927A>T (p.Arg309Ser) rs935834518
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.4(ATM):c.938A>G (p.Tyr313Cys) rs2135265521
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.4(ATM):c.941A>G (p.Asn314Ser) rs886047610
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735

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