ClinVar Miner

List of variants in gene ATM reported as uncertain significance for Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4050
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
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.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 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.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg) rs587782442 0.00014
NM_000051.4(ATM):c.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.1703G>T (p.Arg568Ile) rs200381392 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.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 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.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.3(ATM):c.-218T>A rs886047609 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.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.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 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.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.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_000051.3(ATM):c.-274G>A rs886047606 0.00004
NM_000051.3(ATM):c.-398G>A rs996438197 0.00004
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 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.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.3106T>C (p.Phe1036Leu) rs747079458 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.4777-13T>A rs371535082 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.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.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.2603A>G (p.Asp868Gly) rs750322758 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 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.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr) rs372966951 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.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.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) rs730881369 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg) rs752559455 0.00003
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352 0.00003
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003
NM_000051.4(ATM):c.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.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.601C>G (p.Gln201Glu) rs886039666 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly) rs775767808 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.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.2638+6T>C rs768305533 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.5002C>T (p.Leu1668=) rs747317946 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.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.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.3(ATM):c.-229C>G rs886047608 0.00001
NM_000051.4(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.1138T>A (p.Tyr380Asn) rs34083085 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.1444A>C (p.Lys482Gln) rs202173660 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.1748A>G (p.Tyr583Cys) rs587780614 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.1898+3A>G rs200169643 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.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 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.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr) rs1302626569 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_000051.4(ATM):c.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.3432G>A (p.Leu1144=) rs1060501625 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.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu) rs879254024 0.00001
NM_000051.4(ATM):c.3606A>G (p.Gly1202=) rs1189826741 0.00001
NM_000051.4(ATM):c.3608A>G (p.Tyr1203Cys) rs1453849799 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.361T>A (p.Leu121Ile) rs587782178 0.00001
NM_000051.4(ATM):c.3622_3624del (p.Asp1208del) rs2082297886 0.00001
NM_000051.4(ATM):c.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.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe) rs2082378278 0.00001
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp) rs587781787 0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.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.3956A>G (p.Tyr1319Cys) rs1424433891 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg) rs876658669 0.00001
NM_000051.4(ATM):c.3993+3A>G rs771789242 0.00001
NM_000051.4(ATM):c.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.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser) rs749215545 0.00001
NM_000051.4(ATM):c.412G>A (p.Gly138Arg) rs150661813 0.00001
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser) rs1555096828 0.00001
NM_000051.4(ATM):c.4144C>T (p.Pro1382Ser) rs55859590 0.00001
NM_000051.4(ATM):c.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.4365T>A (p.Ser1455Arg) rs527471560 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.4436+10A>G rs878853509 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.4802G>A (p.Ser1601Asn) rs587782506 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.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu) rs752459491 0.00001
NM_000051.4(ATM):c.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.4977A>T (p.Ile1659=) rs199888434 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.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.5057T>C (p.Ile1686Thr) rs878853517 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.506C>G (p.Ser169Cys) rs587779843 0.00001
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn) rs767841041 0.00001
NM_000051.4(ATM):c.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.5228C>T (p.Thr1743Ile) rs587779844 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.5320-10T>C rs864622731 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.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val) rs199885813 0.00001
NM_000051.4(ATM):c.5443G>A (p.Asp1815Asn) rs933604666 0.00001
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg) rs562930561 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg) rs1565479465 0.00001
NM_000051.4(ATM):c.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.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5635C>A (p.Gln1879Lys) rs756109905 0.00001
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met) rs587780628 0.00001
NM_000051.4(ATM):c.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.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.663-8C>A rs1060501661 0.00001
NM_000051.4(ATM):c.672G>T (p.Lys224Asn) rs769731317 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.709A>G (p.Thr237Ala) rs376529329 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.722A>G (p.Lys241Arg) rs1021907990 0.00001
NM_000051.4(ATM):c.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.738C>G (p.Asn246Lys) rs1335108218 0.00001
NM_000051.4(ATM):c.754T>A (p.Cys252Ser) rs863224580 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.787C>T (p.Leu263Phe) rs876659531 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.839T>C (p.Ile280Thr) rs587782080 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.887A>C (p.Lys296Thr) rs1064795297 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.94C>T (p.Arg32Cys) rs148061139 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.(?_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_000011.9:g.(?_108098342)_(108158452_?)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)_(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.(?_108126932)_(108129812_?)del
NC_000011.9:g.(?_108126936)_(108129808_?)dup
NC_000011.9:g.(?_108143253)_(108153612_?)dup
NC_000011.9:g.(?_108159694)_(108160538_?)del
NC_000011.9:g.(?_108170929)_(108196046_?)del
NC_000011.9:g.(?_108172365)_(108236235_?)dup
NC_000011.9:g.(?_108190671)_(108190795_?)dup
NC_000011.9:g.(?_108205686)_(108236245_?)dup
NC_000011.9:g.(?_108213939)_(108236235_?)dup
NC_000011.9:g.(?_108215207)_(108216339_?)del
NC_000011.9:g.(?_108235789)_(108236235_?)dup
NM_000051.3(ATM):c.-222T>A rs557953523
NM_000051.3(ATM):c.-235delC rs886047607
NM_000051.3(ATM):c.332_334delGAG rs1060501621
NM_000051.3(ATM):c.[1236-2A>T];[497-1G>A]
NM_000051.4(ATM):c.-31+595G>A rs1555051574
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.1084A>G (p.Arg362Gly) rs1591517251
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+4_1235+5del rs770033355
NM_000051.4(ATM):c.1235+5A>C rs1064793679
NM_000051.4(ATM):c.1235+5A>G rs1064793679
NM_000051.4(ATM):c.1236-1_1237del rs1591522664
NM_000051.4(ATM):c.1236-2_1236del rs1591522646
NM_000051.4(ATM):c.1236-2_1237del rs1591522650
NM_000051.4(ATM):c.1236-3T>A rs763976313
NM_000051.4(ATM):c.1236-3T>C rs763976313
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.1241A>C (p.Gln414Pro) rs2080088877
NM_000051.4(ATM):c.1241A>T (p.Gln414Leu)
NM_000051.4(ATM):c.1242G>T (p.Gln414His) rs786203667
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1244T>A (p.Ile415Asn) rs1565381748
NM_000051.4(ATM):c.1245T>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.1259_1264del (p.Ile420_Ser421del) rs1555070659
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.1394G>C (p.Cys465Ser) rs1555070888
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.1592C>T (p.Ala531Val) rs1591524927
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+1del
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.1844T>C (p.Leu615Pro) rs786203783
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.1899-7C>A rs1060501584
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.1926A>T (p.Glu642Asp) rs786201469
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>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2112T>G (p.Asn704Lys)
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)
NM_000051.4(ATM):c.2113T>C (p.Tyr705His) rs757260641
NM_000051.4(ATM):c.2113T>G (p.Tyr705Asp)
NM_000051.4(ATM):c.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.2171G>A (p.Gly724Asp) rs1555074904
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.2182T>A (p.Cys728Ser) rs1565394820
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.2251-14T>A rs751677125
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.2296A>G (p.Lys766Glu) rs748125666
NM_000051.4(ATM):c.2297A>G (p.Lys766Arg)
NM_000051.4(ATM):c.2299A>G (p.Thr767Ala)
NM_000051.4(ATM):c.229A>C (p.Ile77Leu) rs1064796032
NM_000051.4(ATM):c.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.2335ATG[1] (p.Met780del) rs1555075763
NM_000051.4(ATM):c.2338A>G (p.Met780Val) rs587781446
NM_000051.4(ATM):c.2339T>C (p.Met780Thr)
NM_000051.4(ATM):c.233C>G (p.Ala78Gly) rs876659669
NM_000051.4(ATM):c.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.2377-6T>A rs876660963
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+5G>T rs1064795969
NM_000051.4(ATM):c.2466+6T>C rs2135422532
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2467G>A (p.Ala823Thr) rs786202895
NM_000051.4(ATM):c.2467G>C (p.Ala823Pro)
NM_000051.4(ATM):c.2467G>T (p.Ala823Ser) rs786202895
NM_000051.4(ATM):c.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.2594G>T (p.Ser865Ile) rs1591588450
NM_000051.4(ATM):c.2596G>A (p.Val866Ile) rs2135508700
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)
NM_000051.4(ATM):c.25C>T (p.Leu9Phe) rs2078806539
NM_000051.4(ATM):c.2600G>A (p.Ser867Asn) rs1591588485
NM_000051.4(ATM):c.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>A (p.Gln912Lys) rs764409952
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.2805G>C (p.Thr935=) rs55934812
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.2873A>G (p.Glu958Gly) rs587778069
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+4A>C rs1565424660
NM_000051.4(ATM):c.2921+9T>G
NM_000051.4(ATM):c.2921C>A (p.Ser974Tyr) rs538105098
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.2922-3C>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>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2945G>C (p.Arg982Pro) rs749471737
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu) rs749471737
NM_000051.4(ATM):c.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.2952A>G (p.Gln984=) rs1476499901
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.3064A>T (p.Ile1022Phe) 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>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3137T>G (p.Leu1046Arg)
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
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.3154-4G>A rs199543313
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.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3259A>G (p.Met1087Val)
NM_000051.4(ATM):c.325A>G (p.Asn109Asp) rs2135038523
NM_000051.4(ATM):c.325A>T (p.Asn109Tyr) rs2135038523
NM_000051.4(ATM):c.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.3284+8dup rs886047611
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.3352A>G (p.Thr1118Ala) rs572564322
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.3398A>T (p.Glu1133Val) 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.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-5_3403-4del
NM_000051.4(ATM):c.3403-6T>C rs2082201418
NM_000051.4(ATM):c.3403-6T>G rs2082201418
NM_000051.4(ATM):c.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>A (p.Ser1152Tyr) rs775045299
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.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)
NM_000051.4(ATM):c.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.3740T>C (p.Phe1247Ser) rs1064793581
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.3747-10C>G rs775274473
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>A (p.Met125Ile) rs1591474725
NM_000051.4(ATM):c.375G>T (p.Met125Ile)
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile) rs753717865
NM_000051.4(ATM):c.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.3919G>A (p.Gly1307Arg) rs568451087
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.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+16T>G rs2135710569
NM_000051.4(ATM):c.3993+19T>G
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3993+5G>A rs3092842
NM_000051.4(ATM):c.3993+6G>A rs878853508
NM_000051.4(ATM):c.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.4130A>G (p.Asn1377Ser) 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.4287A>G (p.Thr1429=) rs1591662793
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.4299T>C (p.Tyr1433=) rs886047612
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>A (p.Arg1437Lys) rs1227046364
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.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg) rs2082686442
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu) rs2082686442
NM_000051.4(ATM):c.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.4489TTA[1] (p.Leu1498del) rs1555099818
NM_000051.4(ATM):c.448C>A (p.Leu150Ile)
NM_000051.4(ATM):c.448C>T (p.Leu150Phe) rs1555059404
NM_000051.4(ATM):c.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.4503T>C (p.Val1501=) rs2082863480
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>C (p.Ile1520Leu) rs765195241
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.4579C>T (p.Leu1527Phe) 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.4741dup (p.Ile1581fs) rs864622164
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.4775A>G (p.Glu1592Gly) 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.4777-6T>C rs1565465980
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.4855A>G (p.Arg1619Gly) rs1555101835
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.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr) rs1565469722
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser) rs1565469722
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg) rs752459491
NM_000051.4(ATM):c.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.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>T rs1278985870
NM_000051.4(ATM):c.497-2_498del rs1591499502
NM_000051.4(ATM):c.497-3A>G rs1046559213
NM_000051.4(ATM):c.497-3_498del rs1205233530
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.5005+15T>A rs377355762
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.506C>T (p.Ser169Phe) rs587779843
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.5087A>T (p.Tyr1696Phe) 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.512A>T (p.Tyr171Phe) 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.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile) rs786203910
NM_000051.4(ATM):c.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>A rs759373136
NM_000051.4(ATM):c.5177+5G>T rs759373136
NM_000051.4(ATM):c.5177+6T>A rs1555104814
NM_000051.4(ATM):c.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.5312G>A (p.Arg1771Lys) rs1416930012
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.5354C>A (p.Pro1785His) rs1555106368
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>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)
NM_000051.4(ATM):c.5476T>A (p.Leu1826Ile) rs1555106563
NM_000051.4(ATM):c.5476T>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.5632_5635del (p.Ser1878fs) rs758852420
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg) rs786203086
NM_000051.4(ATM):c.5637A>C (p.Gln1879His) rs587781993
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.4(ATM):c.563C>A (p.Ala188Asp) rs1555066393
NM_000051.4(ATM):c.563C>G (p.Ala188Gly) rs1555066393
NM_000051.4(ATM):c.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.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp) rs2135975691
NM_000051.4(ATM):c.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.5762+8A>C rs2083824504
NM_000051.4(ATM):c.576T>G (p.His192Gln) rs2079702502
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.578C>G (p.Ala193Gly) rs1064793928
NM_000051.4(ATM):c.581T>C (p.Val194Ala) rs2135224694
NM_000051.4(ATM):c.584C>A (p.Thr195Asn)
NM_000051.4(ATM):c.584C>T (p.Thr195Ile) rs1196611507
NM_000051.4(ATM):c.586A>C (p.Lys196Gln) rs2079703283
NM_000051.4(ATM):c.587A>G (p.Lys196Arg)
NM_000051.4(ATM):c.588A>G (p.Lys196=) rs2135224945
NM_000051.4(ATM):c.589G>A (p.Gly197Arg) rs764080545
NM_000051.4(ATM):c.58G>A (p.Ala20Thr) rs1555053946
NM_000051.4(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.4(ATM):c.594C>G (p.Cys198Trp) rs1591500282
NM_000051.4(ATM):c.595T>C (p.Cys199Arg) rs1591500295
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr) rs879254127
NM_000051.4(ATM):c.597T>G (p.Cys199Trp) rs1565369633
NM_000051.4(ATM):c.599C>G (p.Ser200Cys) rs1060501562
NM_000051.4(ATM):c.59C>G (p.Ala20Gly) rs2078809726
NM_000051.4(ATM):c.605C>T (p.Thr202Ile) rs1555066438
NM_000051.4(ATM):c.607G>A (p.Asp203Asn) rs1591500372
NM_000051.4(ATM):c.614T>C (p.Leu205Ser)
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.4(ATM):c.61A>C (p.Thr21Pro)
NM_000051.4(ATM):c.61A>G (p.Thr21Ala) rs1565344141
NM_000051.4(ATM):c.620C>G (p.Ser207Cys) rs876660296
NM_000051.4(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.623A>G (p.Lys208Arg) rs2135226282
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.631G>A (p.Asp211Asn) rs1555066481
NM_000051.4(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.635T>C (p.Phe212Ser) rs1591500544
NM_000051.4(ATM):c.643A>G (p.Lys215Glu) rs2079708238
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.644A>T (p.Lys215Met)
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.4(ATM):c.647C>T (p.Ala216Val) rs2135227079
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.653A>C (p.Gln218Pro) rs1198686265
NM_000051.4(ATM):c.653A>G (p.Gln218Arg) rs1198686265
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)
NM_000051.4(ATM):c.658G>A (p.Ala220Thr) rs2135227395
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)
NM_000051.4(ATM):c.659C>A (p.Ala220Glu)
NM_000051.4(ATM):c.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.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.663-5C>T rs1591503207
NM_000051.4(ATM):c.663A>G (p.Arg221=) rs1555066913
NM_000051.4(ATM):c.663A>T (p.Arg221Ser) rs1555066913
NM_000051.4(ATM):c.664C>G (p.Gln222Glu) rs1555066917
NM_000051.4(ATM):c.665A>G (p.Gln222Arg)
NM_000051.4(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.4(ATM):c.673A>C (p.Ser225Arg) rs2079753846
NM_000051.4(ATM):c.675C>A (p.Ser225Arg) rs1555066940
NM_000051.4(ATM):c.677C>G (p.Ser226Cys)
NM_000051.4(ATM):c.677C>T (p.Ser226Phe) rs2079754211
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
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.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.691C>G (p.His231Asp) rs1460757633
NM_000051.4(ATM):c.692A>C (p.His231Pro) rs587782229
NM_000051.4(ATM):c.692A>T (p.His231Leu) rs587782229
NM_000051.4(ATM):c.694A>G (p.Ile232Val) rs767739747
NM_000051.4(ATM):c.695T>A (p.Ile232Asn)
NM_000051.4(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.4(ATM):c.695T>G (p.Ile232Ser) rs786203502
NM_000051.4(ATM):c.696C>G (p.Ile232Met) rs1591503507
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.700G>T (p.Ala234Ser)
NM_000051.4(ATM):c.701C>T (p.Ala234Val)
NM_000051.4(ATM):c.703G>C (p.Ala235Pro) rs76379269
NM_000051.4(ATM):c.703G>T (p.Ala235Ser)
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.707T>A (p.Leu236His) rs876659813
NM_000051.4(ATM):c.707T>G (p.Leu236Arg) rs876659813
NM_000051.4(ATM):c.709A>T (p.Thr237Ser) rs376529329
NM_000051.4(ATM):c.710C>T (p.Thr237Ile)
NM_000051.4(ATM):c.710_721del (p.Thr237_Leu240del)
NM_000051.4(ATM):c.712A>T (p.Ile238Phe)
NM_000051.4(ATM):c.713T>A (p.Ile238Asn) rs149116878
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.724A>G (p.Thr242Ala) rs1555067068
NM_000051.4(ATM):c.725C>A (p.Thr242Asn) rs2135238871
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.73-3del rs1565344403
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.733G>A (p.Val245Ile) rs1555067081
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.739T>A (p.Phe247Ile) rs2135239339
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.745A>G (p.Ile249Val) rs1060501636
NM_000051.4(ATM):c.749G>C (p.Arg250Pro) rs56123940
NM_000051.4(ATM):c.74A>G (p.Lys25Arg) rs751310537
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.4(ATM):c.751G>A (p.Val251Met) rs1057519145
NM_000051.4(ATM):c.752T>C (p.Val251Ala) rs1591503977
NM_000051.4(ATM):c.752T>G (p.Val251Gly) rs1591503977
NM_000051.4(ATM):c.757G>A (p.Glu253Lys) rs2135239944
NM_000051.4(ATM):c.758A>G (p.Glu253Gly) rs2079763142
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)
NM_000051.4(ATM):c.763G>C (p.Gly255Arg) rs770911662
NM_000051.4(ATM):c.764_766del (p.Gly255del) rs766716803
NM_000051.4(ATM):c.766G>A (p.Asp256Asn) rs2079764061
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr) rs2079764061
NM_000051.4(ATM):c.767A>G (p.Asp256Gly) rs907941927
NM_000051.4(ATM):c.767A>T (p.Asp256Val) rs907941927
NM_000051.4(ATM):c.769G>C (p.Glu257Gln) rs1565371596
NM_000051.4(ATM):c.771A>C (p.Glu257Asp)
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)
NM_000051.4(ATM):c.776T>C (p.Leu259Pro)
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.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.781A>T (p.Thr261Ser) rs786203410
NM_000051.4(ATM):c.782C>G (p.Thr261Ser)
NM_000051.4(ATM):c.785T>C (p.Leu262Ser) rs864622163
NM_000051.4(ATM):c.785T>G (p.Leu262Trp) rs864622163
NM_000051.4(ATM):c.788T>A (p.Leu263His) rs2079765536
NM_000051.4(ATM):c.788T>C (p.Leu263Pro)
NM_000051.4(ATM):c.790T>C (p.Tyr264His)
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)
NM_000051.4(ATM):c.793A>G (p.Ile265Val) rs587781973
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
NM_000051.4(ATM):c.798G>T (p.Trp266Cys) rs2079766417
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.79G>C (p.Val27Leu) rs754770960
NM_000051.4(ATM):c.79G>T (p.Val27Phe) rs754770960
NM_000051.4(ATM):c.800C>T (p.Thr267Ile)
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.806A>G (p.His269Arg) rs1565371740
NM_000051.4(ATM):c.806A>T (p.His269Leu)
NM_000051.4(ATM):c.807T>G (p.His269Gln) rs2135241561
NM_000051.4(ATM):c.808A>G (p.Arg270Gly) rs2135241589
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.80T>A (p.Val27Asp) rs2078817440
NM_000051.4(ATM):c.80T>C (p.Val27Ala) rs2078817440
NM_000051.4(ATM):c.810G>C (p.Arg270Ser) rs1565371772
NM_000051.4(ATM):c.811C>G (p.Leu271Val) rs730881339
NM_000051.4(ATM):c.811C>T (p.Leu271Phe) rs730881339
NM_000051.4(ATM):c.812T>C (p.Leu271Pro)
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
NM_000051.4(ATM):c.814A>C (p.Asn272His) rs1565371810
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)
NM_000051.4(ATM):c.815A>G (p.Asn272Ser) rs1555067189
NM_000051.4(ATM):c.815A>T (p.Asn272Ile) rs1555067189
NM_000051.4(ATM):c.820T>G (p.Ser274Ala) rs2079767927
NM_000051.4(ATM):c.821C>A (p.Ser274Tyr)
NM_000051.4(ATM):c.821C>G (p.Ser274Cys) rs1591504377
NM_000051.4(ATM):c.821C>T (p.Ser274Phe) rs1591504377
NM_000051.4(ATM):c.825A>T (p.Leu275Phe) rs2135242080
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.830A>G (p.Glu277Gly) rs2079768905
NM_000051.4(ATM):c.832G>A (p.Val278Ile) rs761005590
NM_000051.4(ATM):c.832G>T (p.Val278Phe) rs761005590
NM_000051.4(ATM):c.834C>G (p.Val278=) rs2079769316
NM_000051.4(ATM):c.835A>G (p.Ile279Val) rs1555067210
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)
NM_000051.4(ATM):c.838A>G (p.Ile280Val) rs764048041
NM_000051.4(ATM):c.841G>A (p.Glu281Lys) rs1591504491
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.847T>G (p.Phe283Val) rs1591504549
NM_000051.4(ATM):c.849T>A (p.Phe283Leu) rs1060501617
NM_000051.4(ATM):c.852A>T (p.Gln284His) rs140367473
NM_000051.4(ATM):c.854T>C (p.Leu285Pro) rs864622605
NM_000051.4(ATM):c.854T>G (p.Leu285Arg) rs864622605
NM_000051.4(ATM):c.856C>A (p.Gln286Lys)
NM_000051.4(ATM):c.857A>C (p.Gln286Pro) rs1591504622
NM_000051.4(ATM):c.863A>G (p.Tyr288Cys)
NM_000051.4(ATM):c.865A>C (p.Ile289Leu) rs1555067259
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.866T>C (p.Ile289Thr) rs35261362
NM_000051.4(ATM):c.868C>A (p.His290Asn) rs1591504685
NM_000051.4(ATM):c.868C>T (p.His290Tyr) rs1591504685
NM_000051.4(ATM):c.869A>C (p.His290Pro) rs2135243301
NM_000051.4(ATM):c.869A>G (p.His290Arg) rs2135243301
NM_000051.4(ATM):c.869ATC[1] (p.His291del) rs2135243288
NM_000051.4(ATM):c.870T>G (p.His290Gln)
NM_000051.4(ATM):c.871C>G (p.His291Asp) rs1555067280
NM_000051.4(ATM):c.871C>T (p.His291Tyr)
NM_000051.4(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)
NM_000051.4(ATM):c.875C>G (p.Pro292Arg) rs747727055
NM_000051.4(ATM):c.879A>G (p.Lys293=) rs864622069
NM_000051.4(ATM):c.881G>A (p.Gly294Glu) rs1370428326
NM_000051.4(ATM):c.884C>T (p.Ala295Val) rs1044092081
NM_000051.4(ATM):c.886A>G (p.Lys296Glu) rs1591504793
NM_000051.4(ATM):c.887A>G (p.Lys296Arg) rs1064795297
NM_000051.4(ATM):c.888A>C (p.Lys296Asn) rs1023530965
NM_000051.4(ATM):c.88T>A (p.Phe30Ile) rs2078817952
NM_000051.4(ATM):c.893A>C (p.Gln298Pro) rs2079775401
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.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.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.901+6A>C rs1555067357
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.902G>T (p.Gly301Val) rs202208861
NM_000051.4(ATM):c.905C>T (p.Ala302Val) rs778442248
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)
NM_000051.4(ATM):c.911A>C (p.Glu304Ala) rs2135264712
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)
NM_000051.4(ATM):c.916A>G (p.Thr306Ala) rs1555068304
NM_000051.4(ATM):c.917C>A (p.Thr306Lys) rs1565374923
NM_000051.4(ATM):c.917C>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.928A>G (p.Ser310Gly) rs745773225
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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