ClinVar Miner

List of variants in gene ATM reported as likely benign for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1771
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.185+616T>C rs4987905 0.01235
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.3993+133A>G rs142220799 0.00855
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.5496+231G>A rs4988039 0.00229
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.-31+1129T>A rs552689366 0.00163
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.2838+194A>G rs749105426 0.00132
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000051.4(ATM):c.2125-88T>A rs189045169 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.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.3284+382T>C rs189826589 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.4109+54A>T rs181020146 0.00040
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.2251-19T>C rs370713089 0.00024
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.3403-15_3403-14insTA rs1555091084 0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000051.4(ATM):c.-31+1782A>C rs749439725 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
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.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.3153+20T>C rs200786429 0.00012
NM_000051.4(ATM):c.3576+687_3576+688insTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091763 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.5320-23T>A rs753483198 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.3284+16T>G rs376541962 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.3403-14A>G rs941737393 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.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.1887C>T (p.Ser629=) rs143097772 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2527A>G (p.Asn843Asp) rs1162447958 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.3993+18A>G rs201171518 0.00006
NM_000051.4(ATM):c.4449C>T (p.Ile1483=) rs786203726 0.00006
NM_000051.4(ATM):c.5005+17C>G rs200688912 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 0.00005
NM_000051.4(ATM):c.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.129A>G (p.Leu43=) rs780616292 0.00004
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1608-19G>T rs773158102 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2124+13A>T rs199648955 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00004
NM_000051.4(ATM):c.3012C>T (p.Ser1004=) rs751260996 0.00004
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=) rs780240314 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3777G>A (p.Leu1259=) rs780192529 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2013A>T (p.Ile671=) rs1371341017 0.00003
NM_000051.4(ATM):c.2151G>C (p.Arg717=) rs1331738032 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.2751C>T (p.Ser917=) rs876659611 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.3402+10A>C rs919002854 0.00003
NM_000051.4(ATM):c.4008C>T (p.Phe1336=) rs748055132 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.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 0.00003
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00002
NM_000051.4(ATM):c.1235+20T>G rs762656752 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.1392G>A (p.Leu464=) rs760191806 0.00002
NM_000051.4(ATM):c.1596C>T (p.Cys532=) rs564050785 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.1707C>T (p.Ser569=) rs1381837075 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.1947A>G (p.Glu649=) rs1032244771 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_000051.4(ATM):c.2262A>G (p.Gln754=) rs778320952 0.00002
NM_000051.4(ATM):c.2619A>G (p.Gly873=) rs777979257 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2638+8C>T rs776116433 0.00002
NM_000051.4(ATM):c.2736G>A (p.Gln912=) rs757305928 0.00002
NM_000051.4(ATM):c.2921+16C>A rs558376224 0.00002
NM_000051.4(ATM):c.2922-8T>C rs545892367 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=) rs587780543 0.00002
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.3747-9T>C rs760676626 0.00002
NM_000051.4(ATM):c.381A>G (p.Thr127=) rs762582522 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.3994-830A>C rs869312479 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4476C>T (p.Ser1492=) rs780236656 0.00002
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.4612-17T>C rs550966528 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.4910-20T>G rs773731240 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5006-18T>A rs768321973 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.5319+8A>G rs375051697 0.00002
NM_000051.4(ATM):c.5364C>T (p.Gly1788=) rs780134093 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.852A>G (p.Gln284=) rs140367473 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1023C>T (p.Val341=) rs35728619 0.00001
NM_000051.4(ATM):c.1038T>A (p.Ile346=) rs749950833 0.00001
NM_000051.4(ATM):c.1065+18T>A rs774940342 0.00001
NM_000051.4(ATM):c.1110C>T (p.Tyr370=) rs376170600 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1197C>T (p.His399=) rs786201131 0.00001
NM_000051.4(ATM):c.1203G>A (p.Gln401=) rs1214283617 0.00001
NM_000051.4(ATM):c.1206G>A (p.Lys402=) rs776001057 0.00001
NM_000051.4(ATM):c.1209A>G (p.Ser403=) rs1213832469 0.00001
NM_000051.4(ATM):c.1235+11dup rs773187419 0.00001
NM_000051.4(ATM):c.1235+14A>G rs776931625 0.00001
NM_000051.4(ATM):c.1242G>A (p.Gln414=) rs786203667 0.00001
NM_000051.4(ATM):c.1302A>G (p.Pro434=) rs1555070715 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1317A>G (p.Leu439=) rs1232968268 0.00001
NM_000051.4(ATM):c.1329A>C (p.Leu443=) rs201460863 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.1338G>A (p.Gln446=) rs771673512 0.00001
NM_000051.4(ATM):c.1343A>G (p.His448Arg) rs1555070781 0.00001
NM_000051.4(ATM):c.1362T>C (p.Tyr454=) rs1373614735 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1407G>A (p.Arg469=) rs1555070912 0.00001
NM_000051.4(ATM):c.1410A>G (p.Ser470=) rs939650649 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1455T>C (p.Asn485=) rs1385019623 0.00001
NM_000051.4(ATM):c.1473C>G (p.Thr491=) rs764937436 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser) rs56365018 0.00001
NM_000051.4(ATM):c.1515T>C (p.Phe505=) rs1057520521 0.00001
NM_000051.4(ATM):c.1575G>A (p.Lys525=) rs587780613 0.00001
NM_000051.4(ATM):c.1607+16A>G rs1057522219 0.00001
NM_000051.4(ATM):c.1608-8T>C rs201110707 0.00001
NM_000051.4(ATM):c.1614A>G (p.Ala538=) rs876659636 0.00001
NM_000051.4(ATM):c.1641C>A (p.Thr547=) rs864622141 0.00001
NM_000051.4(ATM):c.1641C>G (p.Thr547=) rs864622141 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1656A>G (p.Pro552=) rs1060504275 0.00001
NM_000051.4(ATM):c.1662G>A (p.Thr554=) rs764646531 0.00001
NM_000051.4(ATM):c.1746C>T (p.Phe582=) rs145629926 0.00001
NM_000051.4(ATM):c.1758G>A (p.Glu586=) rs1555072017 0.00001
NM_000051.4(ATM):c.1802+20A>G rs1009750697 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.186-19G>A rs748791429 0.00001
NM_000051.4(ATM):c.1893A>G (p.Pro631=) rs764702196 0.00001
NM_000051.4(ATM):c.1898+9T>C rs1057520836 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.1899-11C>T rs730881282 0.00001
NM_000051.4(ATM):c.1929T>G (p.Leu643=) rs876659911 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2088A>G (p.Gly696=) rs1555073469 0.00001
NM_000051.4(ATM):c.2124+16A>G rs762709930 0.00001
NM_000051.4(ATM):c.2124+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2175C>T (p.Val725=) rs140110298 0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=) rs876658836 0.00001
NM_000051.4(ATM):c.2208T>C (p.Ala736=) rs761874856 0.00001
NM_000051.4(ATM):c.2229A>G (p.Ser743=) rs758453118 0.00001
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595 0.00001
NM_000051.4(ATM):c.2250+18A>G rs895190150 0.00001
NM_000051.4(ATM):c.2250+20T>C rs377570109 0.00001
NM_000051.4(ATM):c.2251-11A>G rs755369461 0.00001
NM_000051.4(ATM):c.2322T>C (p.Gly774=) rs769575297 0.00001
NM_000051.4(ATM):c.2331A>G (p.Arg777=) rs1313482346 0.00001
NM_000051.4(ATM):c.2373C>T (p.Thr791=) rs878853494 0.00001
NM_000051.4(ATM):c.2376+6A>C rs1409294054 0.00001
NM_000051.4(ATM):c.2377-18T>C rs761207086 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2379G>A (p.Lys793=) rs1333875379 0.00001
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg) rs952566855 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.246A>G (p.Val82=) rs757944864 0.00001
NM_000051.4(ATM):c.2475C>T (p.Phe825=) rs776907383 0.00001
NM_000051.4(ATM):c.2532A>G (p.Gly844=) rs755261743 0.00001
NM_000051.4(ATM):c.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2583C>T (p.Tyr861=) rs886039633 0.00001
NM_000051.4(ATM):c.2589T>C (p.Asp863=) rs1057520227 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.261A>G (p.Gln87=) rs2078887941 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-18A>G rs1555083057 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2639-9T>G rs1457466709 0.00001
NM_000051.4(ATM):c.2688T>C (p.Leu896=) rs769490863 0.00001
NM_000051.4(ATM):c.2712G>A (p.Leu904=) rs1409179618 0.00001
NM_000051.4(ATM):c.2716T>C (p.Leu906=) rs368047468 0.00001
NM_000051.4(ATM):c.2748G>T (p.Val916=) rs1050470790 0.00001
NM_000051.4(ATM):c.2838+20G>A rs1310769991 0.00001
NM_000051.4(ATM):c.2839-16C>T rs761953913 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 0.00001
NM_000051.4(ATM):c.2862T>C (p.Leu954=) rs1426256662 0.00001
NM_000051.4(ATM):c.2921+15C>A rs1057521619 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2940T>C (p.Tyr980=) rs748119565 0.00001
NM_000051.4(ATM):c.3003A>G (p.Leu1001=) rs765969190 0.00001
NM_000051.4(ATM):c.3030C>T (p.Asn1010=) rs876660913 0.00001
NM_000051.4(ATM):c.3077+8C>G rs752601608 0.00001
NM_000051.4(ATM):c.3078-11C>T rs756972430 0.00001
NM_000051.4(ATM):c.309C>T (p.Tyr103=) rs777499935 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3114A>T (p.Val1038=) rs374451781 0.00001
NM_000051.4(ATM):c.3126A>G (p.Leu1042=) rs770038542 0.00001
NM_000051.4(ATM):c.3132T>C (p.Asn1044=) rs1430714562 0.00001
NM_000051.4(ATM):c.3138T>G (p.Leu1046=) rs3092858 0.00001
NM_000051.4(ATM):c.3153+11G>A rs760086749 0.00001
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00001
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=) rs768038217 0.00001
NM_000051.4(ATM):c.3216A>G (p.Glu1072=) rs373699194 0.00001
NM_000051.4(ATM):c.3283A>C (p.Arg1095=) rs876660302 0.00001
NM_000051.4(ATM):c.3285-19T>C rs749167327 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.3330A>G (p.Ala1110=) rs1009383081 0.00001
NM_000051.4(ATM):c.3333T>G (p.Leu1111=) rs750932338 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3351A>G (p.Gln1117=) rs777375945 0.00001
NM_000051.4(ATM):c.3402+14A>C rs200494541 0.00001
NM_000051.4(ATM):c.3402+5T>C rs1057520229 0.00001
NM_000051.4(ATM):c.3402+9A>G rs761919506 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3453A>G (p.Lys1151=) rs977448999 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.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3576+14A>C rs1416761865 0.00001
NM_000051.4(ATM):c.3577-12T>C rs757616718 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3606A>G (p.Gly1202=) rs1189826741 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.3627T>C (p.Phe1209=) rs762605020 0.00001
NM_000051.4(ATM):c.366T>C (p.Asn122=) rs1178025248 0.00001
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=) rs772331389 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.3746+17C>T rs1057520850 0.00001
NM_000051.4(ATM):c.3747-16A>G rs1555093241 0.00001
NM_000051.4(ATM):c.3747-8A>G rs569612113 0.00001
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=) rs886039637 0.00001
NM_000051.4(ATM):c.3771A>C (p.Pro1257=) rs1057523320 0.00001
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp) rs587781787 0.00001
NM_000051.4(ATM):c.3918T>C (p.Ser1306=) rs139632347 0.00001
NM_000051.4(ATM):c.3921G>A (p.Gly1307=) rs969461745 0.00001
NM_000051.4(ATM):c.3951G>A (p.Lys1317=) rs1485996895 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.4023A>T (p.Pro1341=) rs1020202983 0.00001
NM_000051.4(ATM):c.4032G>C (p.Val1344=) rs769871715 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly) rs1176020475 0.00001
NM_000051.4(ATM):c.4101C>T (p.Asp1367=) rs587780623 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.4114T>C (p.Leu1372=) rs762242838 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4236+11A>G rs368684533 0.00001
NM_000051.4(ATM):c.4236+12T>C rs369996463 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.4305G>A (p.Lys1435=) rs763567469 0.00001
NM_000051.4(ATM):c.433C>T (p.Leu145=) rs587782328 0.00001
NM_000051.4(ATM):c.4356T>C (p.Asp1452=) rs1283294799 0.00001
NM_000051.4(ATM):c.4359A>T (p.Ile1453=) rs1213190389 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4398A>G (p.Arg1466=) rs142728382 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-13dup rs1555099701 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 0.00001
NM_000051.4(ATM):c.4467T>C (p.Arg1489=) rs746296827 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.4500G>A (p.Gln1500=) rs1345605814 0.00001
NM_000051.4(ATM):c.450T>A (p.Leu150=) rs1168425290 0.00001
NM_000051.4(ATM):c.4515C>T (p.Ala1505=) rs540798997 0.00001
NM_000051.4(ATM):c.4518G>A (p.Val1506=) rs1057524110 0.00001
NM_000051.4(ATM):c.4551T>A (p.Leu1517=) rs1459998980 0.00001
NM_000051.4(ATM):c.4569A>G (p.Thr1523=) rs1555099963 0.00001
NM_000051.4(ATM):c.456G>T (p.Val152=) rs1555059433 0.00001
NM_000051.4(ATM):c.4611+19T>C rs776602821 0.00001
NM_000051.4(ATM):c.4611+9C>G rs760704159 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4615T>C (p.Leu1539=) rs976206782 0.00001
NM_000051.4(ATM):c.4629A>G (p.Lys1543=) rs745565564 0.00001
NM_000051.4(ATM):c.4677T>A (p.Ile1559=) rs759660081 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4734G>A (p.Gln1578=) rs754579737 0.00001
NM_000051.4(ATM):c.4761C>T (p.Pro1587=) rs769562370 0.00001
NM_000051.4(ATM):c.4770C>T (p.Leu1590=) rs749475519 0.00001
NM_000051.4(ATM):c.4776+15A>C rs759607134 0.00001
NM_000051.4(ATM):c.4777-15C>T rs1057521023 0.00001
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4821A>G (p.Pro1607=) rs786203559 0.00001
NM_000051.4(ATM):c.4822T>C (p.Leu1608=) rs775464644 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.48A>G (p.Glu16=) rs774768437 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.493T>C (p.Leu165=) rs878853514 0.00001
NM_000051.4(ATM):c.4947C>T (p.Val1649=) rs1436324961 0.00001
NM_000051.4(ATM):c.496+16T>G rs776924718 0.00001
NM_000051.4(ATM):c.497-14T>A rs757147178 0.00001
NM_000051.4(ATM):c.497-14_497-13insC rs776788385 0.00001
NM_000051.4(ATM):c.497-4T>A rs876659621 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.5005+13C>T rs1192513529 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.5006-3T>C rs761297488 0.00001
NM_000051.4(ATM):c.5055C>T (p.Thr1685=) rs587780551 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5079T>C (p.Asp1693=) rs753036834 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5136C>T (p.Phe1712=) rs786203371 0.00001
NM_000051.4(ATM):c.5157T>C (p.Asn1719=) rs786203254 0.00001
NM_000051.4(ATM):c.5164C>T (p.Leu1722=) rs1255639252 0.00001
NM_000051.4(ATM):c.5177+3G>A rs774216164 0.00001
NM_000051.4(ATM):c.522C>G (p.Leu174=) rs780173724 0.00001
NM_000051.4(ATM):c.5271A>G (p.Thr1757=) rs1555105759 0.00001
NM_000051.4(ATM):c.5310A>G (p.Ser1770=) rs1060504282 0.00001
NM_000051.4(ATM):c.5319+20T>C rs775616416 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5320-4C>G rs1316146972 0.00001
NM_000051.4(ATM):c.5355T>G (p.Pro1785=) rs1025083720 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5382G>A (p.Leu1794=) rs188362115 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.5544T>C (p.Asp1848=) rs146568734 0.00001
NM_000051.4(ATM):c.5553C>G (p.Leu1851=) rs786201126 0.00001
NM_000051.4(ATM):c.5556A>G (p.Gln1852=) rs1555107364 0.00001
NM_000051.4(ATM):c.5595T>C (p.His1865=) rs772261410 0.00001
NM_000051.4(ATM):c.5613C>T (p.Thr1871=) rs2083601650 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 0.00001
NM_000051.4(ATM):c.5640G>A (p.Thr1880=) rs757103582 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5661A>G (p.Ala1887=) rs876658939 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.5718A>G (p.Gln1906=) rs863224293 0.00001
NM_000051.4(ATM):c.5762+19C>T rs1170960696 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.662+14T>A rs1450503203 0.00001
NM_000051.4(ATM):c.662+20T>A rs1222553728 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.73-14C>G rs766284348 0.00001
NM_000051.4(ATM):c.73-15C>A rs1216989217 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.834C>T (p.Val278=) rs2079769316 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.901+12A>G rs759379354 0.00001
NM_000051.4(ATM):c.901+7A>G rs1057523569 0.00001
NM_000051.4(ATM):c.902-4A>G rs1416161750 0.00001
NM_000051.4(ATM):c.912A>G (p.Glu304=) rs1286754263 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000051.4(ATM):c.993G>A (p.Lys331=) rs786202048 0.00001
NM_000051.4(ATM):c.996T>C (p.Tyr332=) rs1476261420 0.00001
NM_000051.3:c.8010+30_8010+31insL1
NM_000051.4(ATM):c.-31+1135C>T rs869312481
NM_000051.4(ATM):c.-31+6_-31+7insTGT rs2134938521
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1032T>C (p.Asn344=)
NM_000051.4(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.4(ATM):c.1050A>C (p.Ala350=) rs1591511442
NM_000051.4(ATM):c.1050A>G (p.Ala350=) rs1591511442
NM_000051.4(ATM):c.1056C>A (p.Ile352=)
NM_000051.4(ATM):c.1056C>T (p.Ile352=) rs1555068605
NM_000051.4(ATM):c.1059T>C (p.Cys353=)
NM_000051.4(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.4(ATM):c.1062C>T (p.His354=) rs773365379
NM_000051.4(ATM):c.1065+17A>G rs373230921
NM_000051.4(ATM):c.1065+4C>T rs1591511595
NM_000051.4(ATM):c.1065+5A>T rs1204741025
NM_000051.4(ATM):c.1065+9_1065+12del rs1486083030
NM_000051.4(ATM):c.1066-15A>G rs771020891
NM_000051.4(ATM):c.1066-20G>T rs1565378678
NM_000051.4(ATM):c.1068T>A (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1068T>C (p.Val356=) rs1462038794
NM_000051.4(ATM):c.1071T>C (p.Phe357=) rs1057521608
NM_000051.4(ATM):c.1074T>C (p.Asn358=) rs2135290159
NM_000051.4(ATM):c.1077A>G (p.Glu359=)
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1083C>T (p.Thr361=) rs1555069552
NM_000051.4(ATM):c.1086A>G (p.Arg362=) rs142591268
NM_000051.4(ATM):c.1089C>A (p.Ser363=)
NM_000051.4(ATM):c.1089C>T (p.Ser363=) rs1555069567
NM_000051.4(ATM):c.1092G>A (p.Leu364=)
NM_000051.4(ATM):c.1098T>C (p.Ile366=)
NM_000051.4(ATM):c.1107T>C (p.Ser369=)
NM_000051.4(ATM):c.1113T>C (p.Thr371=) rs1591517484
NM_000051.4(ATM):c.1116T>C (p.Thr372=) rs371985921
NM_000051.4(ATM):c.1119A>C (p.Thr373=)
NM_000051.4(ATM):c.1119A>T (p.Thr373=) rs754889105
NM_000051.4(ATM):c.111T>G (p.Pro37=)
NM_000051.4(ATM):c.1122A>G (p.Gln374=) rs1264315069
NM_000051.4(ATM):c.1143T>C (p.Ser381=) rs755991658
NM_000051.4(ATM):c.1146C>T (p.Val382=) rs786201150
NM_000051.4(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.4(ATM):c.1155A>G (p.Lys385=)
NM_000051.4(ATM):c.1160A>G (p.Lys387Arg) rs876659755
NM_000051.4(ATM):c.1161G>A (p.Lys387=) rs786202369
NM_000051.4(ATM):c.1170A>G (p.Glu390=) rs2135293693
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.1194T>C (p.Asp398=) rs551872656
NM_000051.4(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.4(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.4(ATM):c.1230G>A (p.Val410=) rs1555069869
NM_000051.4(ATM):c.1233T>G (p.Pro411=) rs1591518323
NM_000051.4(ATM):c.1235+8G>T rs1555069907
NM_000051.4(ATM):c.1236-18_1236-17del rs2080085044
NM_000051.4(ATM):c.1236-20T>C rs2080084457
NM_000051.4(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.4(ATM):c.1251C>G (p.Thr417=) rs1555070643
NM_000051.4(ATM):c.1251C>T (p.Thr417=) rs1555070643
NM_000051.4(ATM):c.1260A>C (p.Ile420=) rs750468699
NM_000051.4(ATM):c.1263A>G (p.Ser421=) rs1060504285
NM_000051.4(ATM):c.1272T>G (p.Pro424=)
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1275A>G (p.Ala425=) rs1591523031
NM_000051.4(ATM):c.1275A>T (p.Ala425=)
NM_000051.4(ATM):c.1296G>C (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1296G>T (p.Leu432=)
NM_000051.4(ATM):c.1299T>G (p.Ser433=) rs1565382118
NM_000051.4(ATM):c.12A>G (p.Val4=) rs786201365
NM_000051.4(ATM):c.1308G>T (p.Leu436=)
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.1320T>A (p.Ser440=)
NM_000051.4(ATM):c.1320T>G (p.Ser440=)
NM_000051.4(ATM):c.1329A>G (p.Leu443=) rs201460863
NM_000051.4(ATM):c.1329A>T (p.Leu443=) rs201460863
NM_000051.4(ATM):c.132T>C (p.Asp44=) rs1555054149
NM_000051.4(ATM):c.133C>A (p.Arg45=) rs3218684
NM_000051.4(ATM):c.1347G>A (p.Gly449=) rs1591523440
NM_000051.4(ATM):c.1350A>G (p.Glu450=) rs2135319715
NM_000051.4(ATM):c.1356A>G (p.Thr452=) rs1555070803
NM_000051.4(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.4(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135G>C (p.Arg45=) rs970407823
NM_000051.4(ATM):c.135G>T (p.Arg45=) rs970407823
NM_000051.4(ATM):c.1369C>A (p.Arg457=) rs749036865
NM_000051.4(ATM):c.1374C>T (p.Cys458=) rs2135320531
NM_000051.4(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1386T>A (p.Val462=) rs1591523725
NM_000051.4(ATM):c.1389A>G (p.Ala463=) rs2080102935
NM_000051.4(ATM):c.1404G>A (p.Lys468=) rs2135321676
NM_000051.4(ATM):c.1405A>C (p.Arg469=)
NM_000051.4(ATM):c.1410A>C (p.Ser470=) rs939650649
NM_000051.4(ATM):c.1414C>T (p.Leu472=)
NM_000051.4(ATM):c.1416A>C (p.Leu472=)
NM_000051.4(ATM):c.1416A>G (p.Leu472=) rs786201691
NM_000051.4(ATM):c.1428A>G (p.Gln476=) rs745509434
NM_000051.4(ATM):c.1431G>A (p.Lys477=) rs1555070941
NM_000051.4(ATM):c.1434A>G (p.Ser478=) rs2135322636
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
NM_000051.4(ATM):c.1473C>T (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1479T>C (p.Arg493=)
NM_000051.4(ATM):c.147C>T (p.Ser49=) rs876660033
NM_000051.4(ATM):c.1482T>G (p.Gly494=) rs1335320350
NM_000051.4(ATM):c.1491T>A (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1491T>C (p.Ser497=) rs1555071057
NM_000051.4(ATM):c.1503A>G (p.Gln501=) rs786203736
NM_000051.4(ATM):c.1512C>T (p.Asn504=)
NM_000051.4(ATM):c.1518C>T (p.Gly506=) rs864622528
NM_000051.4(ATM):c.1521A>G (p.Leu507=) rs2135325598
NM_000051.4(ATM):c.1524T>C (p.Leu508=) rs559095379
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1551T>C (p.Val517=) rs553020161
NM_000051.4(ATM):c.1560C>T (p.Asp520=) rs1591524777
NM_000051.4(ATM):c.1563A>G (p.Arg521=)
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
NM_000051.4(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.1578A>G (p.Leu526=) rs1591524857
NM_000051.4(ATM):c.1581T>C (p.Phe527=) rs1555071227
NM_000051.4(ATM):c.1584T>C (p.Thr528=) rs864622408
NM_000051.4(ATM):c.1587G>A (p.Gly529=) rs1060504276
NM_000051.4(ATM):c.1599A>G (p.Arg533=) rs1555071269
NM_000051.4(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.4(ATM):c.1602T>A (p.Pro534=)
NM_000051.4(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.4(ATM):c.1605A>C (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1607+10G>C rs1555071298
NM_000051.4(ATM):c.1607+10G>T rs1555071298
NM_000051.4(ATM):c.1607+18del rs1259647838
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1608-16C>T rs2080161173
NM_000051.4(ATM):c.1608-4A>G rs2080162473
NM_000051.4(ATM):c.1608-7G>A rs1555071656
NM_000051.4(ATM):c.1617A>G (p.Val539=) rs1060504300
NM_000051.4(ATM):c.1620C>T (p.Cys540=) rs1555071676
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
NM_000051.4(ATM):c.1635A>C (p.Ala545=) rs1555071712
NM_000051.4(ATM):c.1635A>G (p.Ala545=) rs1555071712
NM_000051.4(ATM):c.1638G>A (p.Leu546=)
NM_000051.4(ATM):c.1638G>C (p.Leu546=)
NM_000051.4(ATM):c.1638G>T (p.Leu546=)
NM_000051.4(ATM):c.1644C>T (p.Thr548=)
NM_000051.4(ATM):c.1647T>C (p.Ser549=)
NM_000051.4(ATM):c.1650A>C (p.Ile550=)
NM_000051.4(ATM):c.1650A>T (p.Ile550=)
NM_000051.4(ATM):c.1653T>C (p.Val551=)
NM_000051.4(ATM):c.1656A>C (p.Pro552=)
NM_000051.4(ATM):c.1662G>C (p.Thr554=) rs764646531
NM_000051.4(ATM):c.1665A>G (p.Val555=) rs754367168
NM_000051.4(ATM):c.1670T>C (p.Met557Thr) rs786202770
NM_000051.4(ATM):c.1677A>G (p.Ile559Met) rs1190611996
NM_000051.4(ATM):c.1680G>A (p.Glu560=) rs1555071815
NM_000051.4(ATM):c.1683A>G (p.Gln561=) rs876660110
NM_000051.4(ATM):c.1686T>C (p.Asn562=) rs1131691152
NM_000051.4(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>C (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1689G>T (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.168T>C (p.Asn56=) rs1591447362
NM_000051.4(ATM):c.1698A>G (p.Val566=) rs2135341613
NM_000051.4(ATM):c.1701T>C (p.Asn567=) rs878853487
NM_000051.4(ATM):c.1722A>G (p.Glu574=) rs372334891
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg) rs1266358260
NM_000051.4(ATM):c.1734A>G (p.Lys578=) rs1555071939
NM_000051.4(ATM):c.1740C>G (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu) rs145629926
NM_000051.4(ATM):c.1761T>C (p.Gly587=)
NM_000051.4(ATM):c.1764C>T (p.Asp588=)
NM_000051.4(ATM):c.1779A>C (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1782A>G (p.Glu594=) rs876660494
NM_000051.4(ATM):c.1785G>T (p.Val595=) rs2080179445
NM_000051.4(ATM):c.1788T>C (p.Pro596=)
NM_000051.4(ATM):c.1794T>C (p.Ile598=) rs786201830
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1802+13C>T rs1555072105
NM_000051.4(ATM):c.1802+16T>C rs995327985
NM_000051.4(ATM):c.1802+16del rs1064794466
NM_000051.4(ATM):c.1802+18G>C rs1168327781
NM_000051.4(ATM):c.1802+20A>T rs1009750697
NM_000051.4(ATM):c.1802+5T>C
NM_000051.4(ATM):c.1803-15T>C rs2080225396
NM_000051.4(ATM):c.1803-15del rs1420491228
NM_000051.4(ATM):c.1803-4G>A rs876659300
NM_000051.4(ATM):c.1803-5T>C rs786203034
NM_000051.4(ATM):c.1803-8C>A rs778937998
NM_000051.4(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.4(ATM):c.1821A>G (p.Val607=) rs876660362
NM_000051.4(ATM):c.1822C>T (p.Leu608=) rs1591530779
NM_000051.4(ATM):c.1824G>A (p.Leu608=)
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
NM_000051.4(ATM):c.1836T>A (p.Leu612=) rs1309539769
NM_000051.4(ATM):c.1848T>C (p.Thr616=) rs1045549048
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.185+6C>G rs1555054299
NM_000051.4(ATM):c.186-10T>C rs773957101
NM_000051.4(ATM):c.186-18C>T rs1410616583
NM_000051.4(ATM):c.186-8del rs1555055031
NM_000051.4(ATM):c.1869A>G (p.Ala623=) rs1591531055
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.1881C>T (p.Phe627=) rs1555072574
NM_000051.4(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.4(ATM):c.1890G>T (p.Val630=) rs1555072586
NM_000051.4(ATM):c.1898+16A>G rs2080234530
NM_000051.4(ATM):c.1898+4T>A rs1591531225
NM_000051.4(ATM):c.1899-14T>C rs2135365137
NM_000051.4(ATM):c.1899-15C>T rs759924007
NM_000051.4(ATM):c.1899-16T>A rs1352009139
NM_000051.4(ATM):c.189T>C (p.Phe63=) rs926466183
NM_000051.4(ATM):c.18T>C (p.Asn6=) rs876659088
NM_000051.4(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.4(ATM):c.1908C>T (p.His636=) rs2135365854
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.4(ATM):c.1914A>G (p.Lys638=)
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1928T>C (p.Leu643Pro) rs1591533931
NM_000051.4(ATM):c.1929T>A (p.Leu643=) rs876659911
NM_000051.4(ATM):c.1932A>T (p.Ser644=)
NM_000051.4(ATM):c.1938A>G (p.Ser646=) rs1376318521
NM_000051.4(ATM):c.1944A>C (p.Val648=) rs1555073161
NM_000051.4(ATM):c.1944A>G (p.Val648=) rs1555073161
NM_000051.4(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.4(ATM):c.1968T>C (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.1968T>G (p.Thr656=) rs1317185205
NM_000051.4(ATM):c.1983C>T (p.Asp661=) rs2080301965
NM_000051.4(ATM):c.1989A>G (p.Leu663=) rs786202748
NM_000051.4(ATM):c.1998G>A (p.Val666=) rs748380150
NM_000051.4(ATM):c.1998G>C (p.Val666=) rs748380150
NM_000051.4(ATM):c.2000G>A (p.Arg667Lys)
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2025G>A (p.Gln675=)
NM_000051.4(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.4(ATM):c.2031T>C (p.Ser677=) rs1591534580
NM_000051.4(ATM):c.2037C>T (p.Gly679=)
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2046C>A (p.Val682=) rs1591534664
NM_000051.4(ATM):c.2058C>A (p.Leu686=)
NM_000051.4(ATM):c.2058C>G (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2058C>T (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.4(ATM):c.2067A>G (p.Ser689=) rs1555073434
NM_000051.4(ATM):c.2068C>T (p.Leu690=) rs1555073437
NM_000051.4(ATM):c.2078G>A (p.Cys693Tyr)
NM_000051.4(ATM):c.2083C>T (p.Leu695=)
NM_000051.4(ATM):c.2088A>T (p.Gly696=) rs1555073469
NM_000051.4(ATM):c.2094A>C (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2094A>T (p.Ser698=)
NM_000051.4(ATM):c.2097A>G (p.Glu699=) rs777887012
NM_000051.4(ATM):c.210A>G (p.Lys70=) rs1064793030
NM_000051.4(ATM):c.2121T>C (p.Ser707=)
NM_000051.4(ATM):c.2124+12dup rs769051992
NM_000051.4(ATM):c.2124+19del rs35211268
NM_000051.4(ATM):c.2124+19dup rs35211268
NM_000051.4(ATM):c.2124+409A>G rs869312477
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2125-17T>C rs1373576656
NM_000051.4(ATM):c.2125-19A>T rs2080469665
NM_000051.4(ATM):c.2125-3A>C rs1565394396
NM_000051.4(ATM):c.2125-4T>C rs1064795623
NM_000051.4(ATM):c.2125-4dup rs2135391852
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2130A>G (p.Thr710=) rs2080472731
NM_000051.4(ATM):c.2130A>T (p.Thr710=)
NM_000051.4(ATM):c.2136A>G (p.Ser712=)
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2151G>A (p.Arg717=) rs1331738032
NM_000051.4(ATM):c.2157A>G (p.Ser719=) rs1591542014
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.4(ATM):c.2160T>A (p.Arg720=)
NM_000051.4(ATM):c.2163T>C (p.Leu721=) rs1591542057
NM_000051.4(ATM):c.2169G>C (p.Val723=)
NM_000051.4(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.4(ATM):c.2178T>A (p.Leu726=)
NM_000051.4(ATM):c.2178T>C (p.Leu726=) rs1591542185
NM_000051.4(ATM):c.2181C>G (p.Gly727=) rs876658836
NM_000051.4(ATM):c.2190T>C (p.Cys730=) rs876659949
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2199T>A (p.Gly733=)
NM_000051.4(ATM):c.2199T>C (p.Gly733=) rs1591542359
NM_000051.4(ATM):c.2211A>G (p.Glu737=) rs1555074990
NM_000051.4(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.4(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.4(ATM):c.2229A>T (p.Ser743=)
NM_000051.4(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.4(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.4(ATM):c.2250+13A>G rs1290519111
NM_000051.4(ATM):c.2250+8A>T rs1555075054
NM_000051.4(ATM):c.2250+9A>G rs755569951
NM_000051.4(ATM):c.2251-11A>T rs755369461
NM_000051.4(ATM):c.2251-13C>T
NM_000051.4(ATM):c.2251-15T>C rs1565396892
NM_000051.4(ATM):c.2251-18T>G rs1555075595
NM_000051.4(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.4(ATM):c.2256A>T (p.Leu752=)
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.225G>T (p.Leu75=)
NM_000051.4(ATM):c.2265T>C (p.Cys755=)
NM_000051.4(ATM):c.2268A>G (p.Ala756=) rs1057522845
NM_000051.4(ATM):c.2283T>C (p.Thr761=)
NM_000051.4(ATM):c.2283T>G (p.Thr761=)
NM_000051.4(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.4(ATM):c.2295T>C (p.Asn765=) rs1444950103
NM_000051.4(ATM):c.22C>T (p.Leu8=) rs2135004594
NM_000051.4(ATM):c.2319T>C (p.Ile773=)
NM_000051.4(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.4(ATM):c.2325C>A (p.Ser775=)
NM_000051.4(ATM):c.2326T>C (p.Leu776=) rs762937809
NM_000051.4(ATM):c.2329A>C (p.Arg777=) rs1565397263
NM_000051.4(ATM):c.2343G>A (p.Gln781=) rs2135407606
NM_000051.4(ATM):c.234A>G (p.Ala78=) rs1555055145
NM_000051.4(ATM):c.2352A>T (p.Thr784=) rs759679953
NM_000051.4(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.4(ATM):c.2358C>T (p.Cys786=)
NM_000051.4(ATM):c.2364C>T (p.Ser788=) rs2135408164
NM_000051.4(ATM):c.2367C>T (p.Asn789=) rs2080585059
NM_000051.4(ATM):c.2370T>C (p.Cys790=)
NM_000051.4(ATM):c.2376+16del rs779169817
NM_000051.4(ATM):c.2376+18T>C rs1555075849
NM_000051.4(ATM):c.2376+20_2376+22del rs1171212629
NM_000051.4(ATM):c.2376+3A>G rs758083563
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2377-15T>C rs2080690965
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2377-17G>C rs192105604
NM_000051.4(ATM):c.2377-397A>G rs869312476
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2385A>G (p.Pro795=) rs2135420750
NM_000051.4(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.4(ATM):c.2397A>C (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2397A>G (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2403C>T (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2416T>C (p.Leu806=) rs1591551376
NM_000051.4(ATM):c.2418G>A (p.Leu806=) rs587781296
NM_000051.4(ATM):c.2424A>G (p.Thr808=) rs1555076671
NM_000051.4(ATM):c.2427A>G (p.Ser809=) rs1591551435
NM_000051.4(ATM):c.2430G>A (p.Lys810=) rs1555076689
NM_000051.4(ATM):c.243T>C (p.Asn81=) rs1591451819
NM_000051.4(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.4(ATM):c.2466+16_2466+28del rs1555076777
NM_000051.4(ATM):c.2467-4G>A rs1555082048
NM_000051.4(ATM):c.2467-8C>T rs1425701157
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
NM_000051.4(ATM):c.246A>T (p.Val82=)
NM_000051.4(ATM):c.2472C>G (p.Ser824=) rs786203289
NM_000051.4(ATM):c.2472C>T (p.Ser824=) rs786203289
NM_000051.4(ATM):c.2478C>T (p.Ile826=)
NM_000051.4(ATM):c.2481A>G (p.Lys827=) rs2135505455
NM_000051.4(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2487A>T (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2493C>T (p.Asp831=) rs2135505712
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2496T>A (p.Arg832=) rs2081302055
NM_000051.4(ATM):c.2499A>C (p.Gly833=) rs1060504263
NM_000051.4(ATM):c.249A>C (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.249A>G (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.249A>T (p.Ser83=) rs1591451851
NM_000051.4(ATM):c.24G>A (p.Leu8=) rs1555053888
NM_000051.4(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.4(ATM):c.2511A>G (p.Ser837=)
NM_000051.4(ATM):c.2513T>G (p.Met838Arg)
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu) rs1591587498
NM_000051.4(ATM):c.2523T>C (p.Asp841=) rs758234872
NM_000051.4(ATM):c.2526T>C (p.Thr842=) rs1565416272
NM_000051.4(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.4(ATM):c.252C>A (p.Ala84=)
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2532A>C (p.Gly844=) rs755261743
NM_000051.4(ATM):c.2532A>T (p.Gly844=)
NM_000051.4(ATM):c.2538A>G (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2544G>A (p.Glu848=) rs1060501601
NM_000051.4(ATM):c.2545G>A (p.Val849Met) rs1591587875
NM_000051.4(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.4(ATM):c.2559A>C (p.Ser853=)
NM_000051.4(ATM):c.2559A>G (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.2559A>T (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.255A>G (p.Ser85=) rs2135035403
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.4(ATM):c.2571A>T (p.Leu857=) rs1191404395
NM_000051.4(ATM):c.2586T>C (p.Pro862=) rs2135508452
NM_000051.4(ATM):c.258A>C (p.Thr86=)
NM_000051.4(ATM):c.258A>G (p.Thr86=) rs777434093
NM_000051.4(ATM):c.2592T>C (p.Ser864=)
NM_000051.4(ATM):c.2601T>C (p.Ser867=)
NM_000051.4(ATM):c.2616T>C (p.Pro872=) rs1591588691
NM_000051.4(ATM):c.2625C>T (p.Ser875=) rs1591588785
NM_000051.4(ATM):c.2631T>C (p.Ser877=)
NM_000051.4(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.4(ATM):c.2638+11A>G rs1057521911
NM_000051.4(ATM):c.2638+16C>A rs1386019726
NM_000051.4(ATM):c.2638+16C>G rs1386019726
NM_000051.4(ATM):c.2638+19C>A rs1439350674
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2638+9A>C rs761592414
NM_000051.4(ATM):c.2639-22A>G rs1555083055
NM_000051.4(ATM):c.2639-382_2639-377del rs1397425268
NM_000051.4(ATM):c.2639-384A>T rs1131691154
NM_000051.4(ATM):c.2639-9dup
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
NM_000051.4(ATM):c.264C>T (p.Ala88=) rs1555055190
NM_000051.4(ATM):c.2652T>G (p.Pro884=) rs2081380644
NM_000051.4(ATM):c.2658T>C (p.Ala886=) rs1591593665
NM_000051.4(ATM):c.2667T>C (p.Tyr889=) rs2081381578
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
NM_000051.4(ATM):c.2670G>A (p.Leu890=) rs1555083123
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.267C>A (p.Ser89=)
NM_000051.4(ATM):c.267C>T (p.Ser89=) rs1555055198
NM_000051.4(ATM):c.2694A>G (p.Leu898=)
NM_000051.4(ATM):c.2703C>G (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.2703C>T (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.270G>A (p.Arg90=) rs1313014736
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2724A>G (p.Val908=)
NM_000051.4(ATM):c.2730T>G (p.Thr910=) rs1591594148
NM_000051.4(ATM):c.2739C>A (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.2739C>T (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.2742T>C (p.Asn914=) rs1057520522
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
NM_000051.4(ATM):c.2751C>G (p.Ser917=) rs876659611
NM_000051.4(ATM):c.2754T>C (p.Phe918=) rs758955717
NM_000051.4(ATM):c.2763T>A (p.Ala921=) rs1555083334
NM_000051.4(ATM):c.2763T>C (p.Ala921=) rs1555083334
NM_000051.4(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.4(ATM):c.2770C>A (p.Arg924=) rs55723361
NM_000051.4(ATM):c.2772G>C (p.Arg924=) rs777541280
NM_000051.4(ATM):c.2775G>A (p.Arg925=) rs1591594506
NM_000051.4(ATM):c.2782T>C (p.Leu928=)
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
NM_000051.4(ATM):c.2788T>C (p.Leu930=) rs2135526232
NM_000051.4(ATM):c.2790A>G (p.Leu930=)
NM_000051.4(ATM):c.2793T>C (p.Ile931=)
NM_000051.4(ATM):c.2799T>A (p.Ser933=)
NM_000051.4(ATM):c.2799T>C (p.Ser933=) rs1555083381
NM_000051.4(ATM):c.2799T>G (p.Ser933=)
NM_000051.4(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.4(ATM):c.27T>C (p.Leu9=)
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2808A>G (p.Leu936=) rs547791214
NM_000051.4(ATM):c.2814T>C (p.Pro938=)
NM_000051.4(ATM):c.2817C>G (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2823C>T (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
NM_000051.4(ATM):c.2832G>C (p.Leu944=) rs2135527476
NM_000051.4(ATM):c.2832G>T (p.Leu944=)
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2839-15C>T rs2081545815
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-5C>A rs876660205
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.2841T>C (p.Tyr947=) rs1167845678
NM_000051.4(ATM):c.2842C>T (p.Leu948=) rs1591602173
NM_000051.4(ATM):c.2844A>G (p.Leu948=) rs1555084628
NM_000051.4(ATM):c.2845A>G (p.Met949Val) rs1348704826
NM_000051.4(ATM):c.2856G>A (p.Lys952=) rs2135547604
NM_000051.4(ATM):c.2862T>G (p.Leu954=) rs1426256662
NM_000051.4(ATM):c.2865T>C (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2865T>G (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2874G>A (p.Glu958=) rs1555084671
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
NM_000051.4(ATM):c.2895T>C (p.Asp965=) rs1424320755
NM_000051.4(ATM):c.2901T>C (p.Leu967=) rs778731866
NM_000051.4(ATM):c.2901T>G (p.Leu967=) rs778731866
NM_000051.4(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.4(ATM):c.2910G>T (p.Leu970=)
NM_000051.4(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.4(ATM):c.2916A>G (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.4(ATM):c.291C>A (p.Ile97=) rs746762110
NM_000051.4(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.4(ATM):c.2921+11A>G rs1565424678
NM_000051.4(ATM):c.2921+18T>C rs1565424709
NM_000051.4(ATM):c.2921+24_2921+28del rs780315379
NM_000051.4(ATM):c.2922-14T>C rs761100734
NM_000051.4(ATM):c.2922-17T>C rs1565424925
NM_000051.4(ATM):c.2922-21_2922-20delinsG rs1555084900
NM_000051.4(ATM):c.2922-21_2922-20delinsGG rs1555084898
NM_000051.4(ATM):c.2922-22_2922-20delinsGG rs1555084880
NM_000051.4(ATM):c.2922-4A>G rs1555084924
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.2925T>C (p.Asn975=) rs765848319
NM_000051.4(ATM):c.2934T>C (p.Ser978=)
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2943T>A (p.Arg981=)
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
NM_000051.4(ATM):c.2949C>T (p.Asp983=) rs1555085022
NM_000051.4(ATM):c.294T>C (p.Ser98=)
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.2985T>A (p.Leu995=) rs1555085087
NM_000051.4(ATM):c.2988T>C (p.His996=) rs559676197
NM_000051.4(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.4(ATM):c.2991A>C (p.Val997=)
NM_000051.4(ATM):c.2991A>G (p.Val997=) rs1203368496
NM_000051.4(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.4(ATM):c.2994G>T (p.Val998=)
NM_000051.4(ATM):c.3001C>T (p.Leu1001=)
NM_000051.4(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)
NM_000051.4(ATM):c.3009A>G (p.Gln1003=) rs1555085154
NM_000051.4(ATM):c.300G>A (p.Leu100=) rs878853499
NM_000051.4(ATM):c.3021C>T (p.Asp1007=) rs1591604426
NM_000051.4(ATM):c.3024T>C (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3024T>G (p.Ser1008=) rs1060504274
NM_000051.4(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.4(ATM):c.3039T>C (p.Asp1013=) rs1591604597
NM_000051.4(ATM):c.303C>G (p.Val101=) rs1555055291
NM_000051.4(ATM):c.303C>T (p.Val101=) rs1555055291
NM_000051.4(ATM):c.3042T>C (p.Ala1014=) rs1555085205
NM_000051.4(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.4(ATM):c.3060A>G (p.Thr1020=) rs1591604737
NM_000051.4(ATM):c.3063A>G (p.Val1021=) rs1591604752
NM_000051.4(ATM):c.3069A>G (p.Gly1023=) rs778984289
NM_000051.4(ATM):c.3072A>G (p.Ala1024=) rs772274328
NM_000051.4(ATM):c.3077+13dup rs1555085272
NM_000051.4(ATM):c.3077+14A>G rs977758069
NM_000051.4(ATM):c.3077+15T>C rs1555085277
NM_000051.4(ATM):c.3077+18del rs1555085280
NM_000051.4(ATM):c.3077+19G>T rs1418513952
NM_000051.4(ATM):c.3077+21_3077+23del rs1243820894
NM_000051.4(ATM):c.3077+8C>T rs752601608
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3081T>C (p.His1027=) rs864622587
NM_000051.4(ATM):c.3084A>C (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3084A>G (p.Leu1028=) rs1565427561
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.4(ATM):c.3090G>A (p.Lys1030=) rs1591608292
NM_000051.4(ATM):c.3093G>A (p.Glu1031=) rs1555085799
NM_000051.4(ATM):c.3096G>A (p.Arg1032=) rs1555085805
NM_000051.4(ATM):c.3111T>C (p.Ser1037=) rs1591608393
NM_000051.4(ATM):c.3117A>G (p.Arg1039=) rs55784207
NM_000051.4(ATM):c.3126A>T (p.Leu1042=)
NM_000051.4(ATM):c.3129A>T (p.Val1043=)
NM_000051.4(ATM):c.3135C>T (p.Cys1045=) rs773577455
NM_000051.4(ATM):c.3138T>A (p.Leu1046=)
NM_000051.4(ATM):c.3138T>C (p.Leu1046=) rs3092858
NM_000051.4(ATM):c.3147G>A (p.Leu1049=) rs1060501686
NM_000051.4(ATM):c.3153+10dup rs1565428079
NM_000051.4(ATM):c.3153+15_3153+16delinsA rs1555085918
NM_000051.4(ATM):c.3153+18T>G rs1555085921
NM_000051.4(ATM):c.3153+19T>G rs1565428143
NM_000051.4(ATM):c.3153+20T>A rs200786429
NM_000051.4(ATM):c.3153+20del rs760492979
NM_000051.4(ATM):c.3153+20dup rs760492979
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3156T>C (p.Ala1052=) rs1591609406
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
NM_000051.4(ATM):c.3198A>G (p.Lys1066=) rs1591609637
NM_000051.4(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.4(ATM):c.3210A>G (p.Val1070=) rs1443665212
NM_000051.4(ATM):c.3213T>C (p.Asn1071=) rs786203221
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
NM_000051.4(ATM):c.3225A>G (p.Thr1075=) rs1555086107
NM_000051.4(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.4(ATM):c.3240C>T (p.Asp1080=)
NM_000051.4(ATM):c.324A>G (p.Ala108=) rs2135038430
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3262T>C (p.Leu1088=) rs2081670323
NM_000051.4(ATM):c.3267T>C (p.Ala1089=)
NM_000051.4(ATM):c.3270A>G (p.Ala1090=) rs997005308
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.4(ATM):c.3276A>C (p.Ser1092=)
NM_000051.4(ATM):c.3276A>G (p.Ser1092=) rs2135573179
NM_000051.4(ATM):c.3284+10C>G rs2081674914
NM_000051.4(ATM):c.3284+11A>C rs1565429231
NM_000051.4(ATM):c.3284+20T>C rs1448789912
NM_000051.4(ATM):c.3284+4del rs761592860
NM_000051.4(ATM):c.3285-13del rs1245305174
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3300G>T (p.Thr1100=) rs587780621
NM_000051.4(ATM):c.3315C>G (p.Ser1105=) rs1565439055
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
NM_000051.4(ATM):c.332-11T>C rs1565356404
NM_000051.4(ATM):c.332-20_332-17del rs898739905
NM_000051.4(ATM):c.3322C>T (p.Leu1108=) rs1555090147
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.4(ATM):c.3339G>A (p.Leu1113=) rs1591632173
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3345T>C (p.Leu1115=)
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3357T>G (p.Ala1119=) rs1591632314
NM_000051.4(ATM):c.3363A>G (p.Glu1121=)
NM_000051.4(ATM):c.3366T>C (p.Asn1122=) rs2135644622
NM_000051.4(ATM):c.336A>T (p.Ala112=) rs777759909
NM_000051.4(ATM):c.3375G>A (p.Leu1125=) rs760821273
NM_000051.4(ATM):c.3381T>C (p.Ala1127=) rs1371503633
NM_000051.4(ATM):c.3384G>A (p.Gln1128=) rs1565439537
NM_000051.4(ATM):c.3390A>C (p.Gly1130=)
NM_000051.4(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.4(ATM):c.3400A>G (p.Met1134Val) rs1591632583
NM_000051.4(ATM):c.3402+18G>C rs752000273
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3403-13_3403-12insC rs1555091099
NM_000051.4(ATM):c.3403-14_3403-13insT rs1555091097
NM_000051.4(ATM):c.3403-15delinsAA rs1555091094
NM_000051.4(ATM):c.3403-15delinsAAA rs1555091094
NM_000051.4(ATM):c.3403-15delinsATA rs1555091094
NM_000051.4(ATM):c.3403-16_3403-15inv
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-8_3403-4del rs1555091114
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
NM_000051.4(ATM):c.3405C>T (p.Ser1135=) rs746829748
NM_000051.4(ATM):c.3408T>C (p.His1136=)
NM_000051.4(ATM):c.3414T>C (p.Ala1138=) rs1565441410
NM_000051.4(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
NM_000051.4(ATM):c.342G>A (p.Arg114=) rs1555059036
NM_000051.4(ATM):c.3435T>C (p.Asp1145=) rs2082204446
NM_000051.4(ATM):c.343C>T (p.Leu115=) rs1555059048
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=) rs1591636407
NM_000051.4(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.4(ATM):c.3448A>C (p.Arg1150=) rs786201209
NM_000051.4(ATM):c.3459T>G (p.Val1153=)
NM_000051.4(ATM):c.345A>G (p.Leu115=) rs2079235213
NM_000051.4(ATM):c.3460T>C (p.Leu1154=) rs1591636498
NM_000051.4(ATM):c.3463C>T (p.Leu1155=) rs1555091217
NM_000051.4(ATM):c.3465G>A (p.Leu1155=)
NM_000051.4(ATM):c.3465G>C (p.Leu1155=)
NM_000051.4(ATM):c.3465G>T (p.Leu1155=)
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3474A>C (p.Ile1158=)
NM_000051.4(ATM):c.3486A>G (p.Leu1162=)
NM_000051.4(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.4(ATM):c.3495C>T (p.Ser1165=) rs878853505
NM_000051.4(ATM):c.3498T>C (p.Pro1166=) rs1555091273
NM_000051.4(ATM):c.3498T>G (p.Pro1166=)
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.4(ATM):c.3501C>T (p.Ile1167=) rs1555091279
NM_000051.4(ATM):c.3507A>G (p.Glu1169=) rs1555091291
NM_000051.4(ATM):c.3516T>G (p.Ala1172=)
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
NM_000051.4(ATM):c.3528G>A (p.Leu1176=)
NM_000051.4(ATM):c.3528G>T (p.Leu1176=) rs748335454
NM_000051.4(ATM):c.3531T>C (p.Cys1177=) rs876659546
NM_000051.4(ATM):c.3537T>C (p.Ser1179=)
NM_000051.4(ATM):c.3537T>G (p.Ser1179=)
NM_000051.4(ATM):c.3540G>A (p.Val1180=)
NM_000051.4(ATM):c.3540G>T (p.Val1180=)
NM_000051.4(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.4(ATM):c.354A>G (p.Gln118=) rs1188306380
NM_000051.4(ATM):c.3552A>C (p.Gly1184=)
NM_000051.4(ATM):c.3570G>A (p.Val1190=) rs1347241379
NM_000051.4(ATM):c.3576+687delinsTTTAAAAGTATACCAGCCTATAATCAGTTAGCCTTTTACCTCTCAGTATAAGACTTGTTT rs1555091761
NM_000051.4(ATM):c.3576+8T>C rs1591637198
NM_000051.4(ATM):c.3577-11G>C rs2135685988
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.3577-13_3577-12del rs730881288
NM_000051.4(ATM):c.3577-14T>C rs2082292356
NM_000051.4(ATM):c.3577-15T>C rs1057521733
NM_000051.4(ATM):c.3577-20T>G rs921452019
NM_000051.4(ATM):c.3579T>G (p.Val1193=) rs1555092241
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
NM_000051.4(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.4(ATM):c.3603T>C (p.Phe1201=) rs1591641079
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
NM_000051.4(ATM):c.360C>G (p.Leu120=) rs749489010
NM_000051.4(ATM):c.360C>T (p.Leu120=) rs749489010
NM_000051.4(ATM):c.3612A>G (p.Arg1204=)
NM_000051.4(ATM):c.3616T>C (p.Leu1206=)
NM_000051.4(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.3633A>G (p.Ala1211=) rs2135688329
NM_000051.4(ATM):c.3649C>T (p.Leu1217=)
NM_000051.4(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.4(ATM):c.3672T>C (p.Leu1224=)
NM_000051.4(ATM):c.3672T>G (p.Leu1224=)
NM_000051.4(ATM):c.3681T>C (p.Thr1227=) rs1388109606
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=) rs2082303743
NM_000051.4(ATM):c.3690C>T (p.Asn1230=) rs1555092475
NM_000051.4(ATM):c.3691T>C (p.Leu1231=) rs1210990672
NM_000051.4(ATM):c.3702T>C (p.Phe1234=)
NM_000051.4(ATM):c.3708T>C (p.Phe1236=)
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)
NM_000051.4(ATM):c.372C>T (p.Ile124=) rs773495195
NM_000051.4(ATM):c.3732T>A (p.Ile1244=)
NM_000051.4(ATM):c.3732T>C (p.Ile1244=) rs2135690957
NM_000051.4(ATM):c.3735G>A (p.Glu1245=) rs1565445196
NM_000051.4(ATM):c.3741C>T (p.Phe1247=) rs780396420
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=) rs1555092589
NM_000051.4(ATM):c.3746+20A>G rs1555092607
NM_000051.4(ATM):c.3746+4A>C rs1555092593
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-11T>C rs2135703873
NM_000051.4(ATM):c.3747-15T>C
NM_000051.4(ATM):c.3768T>A (p.Ile1256=) rs765538231
NM_000051.4(ATM):c.3777G>C (p.Leu1259=)
NM_000051.4(ATM):c.3783T>C (p.Ile1261=) rs1005444925
NM_000051.4(ATM):c.3810C>A (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.4(ATM):c.3828A>G (p.Gln1276=) rs1318728821
NM_000051.4(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.4(ATM):c.3840A>G (p.Lys1280=) rs2135706465
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
NM_000051.4(ATM):c.3876A>T (p.Val1292=)
NM_000051.4(ATM):c.3882T>C (p.Ile1294=) rs1167387894
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=) rs2135707669
NM_000051.4(ATM):c.3897C>G (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3906T>C (p.Gly1302=) rs1565447594
NM_000051.4(ATM):c.3909C>T (p.Thr1303=) rs1555093618
NM_000051.4(ATM):c.390T>C (p.Asp130=) rs1565356801
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly) rs1565447611
NM_000051.4(ATM):c.3912A>G (p.Arg1304=)
NM_000051.4(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.3930G>A (p.Gln1310=)
NM_000051.4(ATM):c.393A>G (p.Ser131=)
NM_000051.4(ATM):c.3948C>T (p.Thr1316=) rs2135709208
NM_000051.4(ATM):c.3954C>G (p.Val1318=) rs2082387502
NM_000051.4(ATM):c.3960T>C (p.Asp1320=) rs995275833
NM_000051.4(ATM):c.3979T>C (p.Leu1327=) rs2135709876
NM_000051.4(ATM):c.3984G>A (p.Leu1328=) rs1591646593
NM_000051.4(ATM):c.398A>G (p.Asn133Ser) rs730881330
NM_000051.4(ATM):c.3993+10C>T rs587782262
NM_000051.4(ATM):c.3993+5G>A rs3092842
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>A rs1057520398
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-157_3994-156del rs1555095694
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.399T>C (p.Asn133=)
NM_000051.4(ATM):c.4002C>T (p.His1334=) rs876659622
NM_000051.4(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4032G>A (p.Val1344=) rs769871715
NM_000051.4(ATM):c.4038G>A (p.Glu1346=) rs1591655790
NM_000051.4(ATM):c.4053A>G (p.Leu1351=) rs1565452695
NM_000051.4(ATM):c.405T>G (p.Ala135=) rs2135123254
NM_000051.4(ATM):c.4062A>G (p.Pro1354=)
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr) rs2135736874
NM_000051.4(ATM):c.406A>G (p.Ile136Val) rs780941782
NM_000051.4(ATM):c.4077C>G (p.Ala1359=) rs375606854
NM_000051.4(ATM):c.4077C>T (p.Ala1359=)
NM_000051.4(ATM):c.4083G>A (p.Gln1361=) rs863224570
NM_000051.4(ATM):c.408T>A (p.Ile136=) rs2135123307
NM_000051.4(ATM):c.4092C>T (p.Asp1364=) rs876660956
NM_000051.4(ATM):c.4095C>A (p.Leu1365=)
NM_000051.4(ATM):c.4095C>G (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4095C>T (p.Leu1365=) rs2135737731
NM_000051.4(ATM):c.4104T>C (p.Phe1368=) rs569614591
NM_000051.4(ATM):c.4109+10T>A rs1236628481
NM_000051.4(ATM):c.4109+13T>C rs2082569194
NM_000051.4(ATM):c.4110-11A>T rs760715107
NM_000051.4(ATM):c.4110-4T>G rs777186156
NM_000051.4(ATM):c.4110-9C>T rs730881367
NM_000051.4(ATM):c.4122T>C (p.Pro1374=)
NM_000051.4(ATM):c.4125T>A (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4125T>C (p.Ala1375=) rs1555096804
NM_000051.4(ATM):c.4131T>C (p.Asn1377=) rs2082639582
NM_000051.4(ATM):c.4149G>C (p.Ser1383=)
NM_000051.4(ATM):c.4149G>T (p.Ser1383=) rs749180334
NM_000051.4(ATM):c.4152T>C (p.His1384=) rs1555096888
NM_000051.4(ATM):c.4155G>A (p.Val1385=) rs2082641997
NM_000051.4(ATM):c.4155G>T (p.Val1385=)
NM_000051.4(ATM):c.4164A>G (p.Ala1388=)
NM_000051.4(ATM):c.4173C>A (p.Ala1391=)
NM_000051.4(ATM):c.4173C>G (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4179C>T (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4182C>T (p.Ser1394=) rs2082644520
NM_000051.4(ATM):c.4185T>C (p.Asn1395=) rs2135752553
NM_000051.4(ATM):c.4188T>C (p.Cys1396=) rs1565455129
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
NM_000051.4(ATM):c.4209C>T (p.Ser1403=) rs876658701
NM_000051.4(ATM):c.420T>C (p.Asp140=) rs1591475108
NM_000051.4(ATM):c.4212T>C (p.Ile1404=)
NM_000051.4(ATM):c.4215A>G (p.Leu1405=)
NM_000051.4(ATM):c.4221T>C (p.Ile1407=)
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr) rs745890227
NM_000051.4(ATM):c.4236+11A>C rs368684533
NM_000051.4(ATM):c.4236+19T>G rs2082650329
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4236T>C (p.Pro1412=)
NM_000051.4(ATM):c.4237-13_4237-12del rs1555097353
NM_000051.4(ATM):c.4237-19A>C rs753311330
NM_000051.4(ATM):c.4237-19A>G rs753311330
NM_000051.4(ATM):c.4237-3T>C
NM_000051.4(ATM):c.4237-7T>C rs1439775115
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.4263C>G (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.426C>T (p.Ser142=)
NM_000051.4(ATM):c.4281T>C (p.Ala1427=) rs876659745
NM_000051.4(ATM):c.4287A>C (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4287A>G (p.Thr1429=) rs1591662793
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.4302G>A (p.Lys1434=) rs876658751
NM_000051.4(ATM):c.4323A>C (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4330C>T (p.Leu1444=) rs2135762205
NM_000051.4(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.4(ATM):c.4335T>C (p.Phe1445=) rs761225071
NM_000051.4(ATM):c.4341T>C (p.Ser1447=) rs1565456454
NM_000051.4(ATM):c.4345T>C (p.Leu1449=) rs786201555
NM_000051.4(ATM):c.4348C>T (p.Leu1450=) rs1555097622
NM_000051.4(ATM):c.4350G>A (p.Leu1450=) rs1565456541
NM_000051.4(ATM):c.4353A>G (p.Lys1451=) rs1565456555
NM_000051.4(ATM):c.435A>G (p.Leu145=) rs775476710
NM_000051.4(ATM):c.4368C>G (p.Gly1456=) rs1555097677
NM_000051.4(ATM):c.4380T>G (p.Ala1460=) rs1565456739
NM_000051.4(ATM):c.4386C>T (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4389T>C (p.Phe1463=) rs1555097753
NM_000051.4(ATM):c.438C>G (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.4398A>T (p.Arg1466=) rs142728382
NM_000051.4(ATM):c.43C>T (p.Leu15=)
NM_000051.4(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.4(ATM):c.4419T>A (p.Ile1473=)
NM_000051.4(ATM):c.4422C>T (p.His1474=) rs1555097849
NM_000051.4(ATM):c.4428C>A (p.Ile1476=)
NM_000051.4(ATM):c.4436+13T>C rs1555097905
NM_000051.4(ATM):c.4436+19C>G rs539302674
NM_000051.4(ATM):c.4436+3A>G rs2082686950
NM_000051.4(ATM):c.4436+9C>T rs1565457090
NM_000051.4(ATM):c.4437-10C>T rs1397770130
NM_000051.4(ATM):c.4437-14T>A rs900984301
NM_000051.4(ATM):c.4437-5A>G rs876658290
NM_000051.4(ATM):c.4437G>A (p.Arg1479=) rs1591673584
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.4(ATM):c.4458G>A (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4461A>C (p.Ser1487=)
NM_000051.4(ATM):c.4461A>G (p.Ser1487=) rs2082859007
NM_000051.4(ATM):c.4470C>T (p.Ser1490=) rs2135798259
NM_000051.4(ATM):c.4488C>T (p.Asp1496=) rs772833802
NM_000051.4(ATM):c.4506C>T (p.Cys1502=) rs876659908
NM_000051.4(ATM):c.4515C>A (p.Ala1505=) rs540798997
NM_000051.4(ATM):c.4518G>C (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.4521T>G (p.Thr1507=) rs1555099885
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=) rs1555099892
NM_000051.4(ATM):c.4536T>C (p.Ala1512=) rs1555099909
NM_000051.4(ATM):c.4537C>T (p.Leu1513=) rs2082867393
NM_000051.4(ATM):c.4539A>G (p.Leu1513=)
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser) rs1565461414
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4551T>C (p.Leu1517=) rs1459998980
NM_000051.4(ATM):c.4569A>C (p.Thr1523=) rs1555099963
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.4(ATM):c.4578C>A (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4578C>G (p.Pro1526=)
NM_000051.4(ATM):c.4584G>A (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4593G>A (p.Gln1531=) rs1591674814
NM_000051.4(ATM):c.4596G>A (p.Val1532=) rs2135802501
NM_000051.4(ATM):c.4596G>T (p.Val1532=)
NM_000051.4(ATM):c.4599G>A (p.Glu1533=) rs1274454004
NM_000051.4(ATM):c.4611+13C>T rs1565461868
NM_000051.4(ATM):c.4611+14T>G rs1270804277
NM_000051.4(ATM):c.4611+8T>G rs1057522426
NM_000051.4(ATM):c.4617G>A (p.Leu1539=) rs1179885415
NM_000051.4(ATM):c.4620C>T (p.Asp1540=) rs1329153013
NM_000051.4(ATM):c.4624T>C (p.Leu1542=) rs876658826
NM_000051.4(ATM):c.462A>G (p.Lys154=) rs876659923
NM_000051.4(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.4(ATM):c.465C>T (p.Tyr155=) rs2079245609
NM_000051.4(ATM):c.4662C>T (p.Asn1554=) rs776761757
NM_000051.4(ATM):c.4665C>G (p.Leu1555=) rs374431061
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.4(ATM):c.4677T>C (p.Ile1559=) rs759660081
NM_000051.4(ATM):c.4701C>T (p.Asp1567=) rs1591677421
NM_000051.4(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.4(ATM):c.4713T>C (p.Phe1571=) rs750027746
NM_000051.4(ATM):c.4719T>C (p.Asp1573=)
NM_000051.4(ATM):c.4723_4725delinsAGA (p.Arg1575=) rs2082921459
NM_000051.4(ATM):c.4725T>C (p.Arg1575=) rs1555100576
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4743C>A (p.Ile1581=)
NM_000051.4(ATM):c.4746A>G (p.Lys1582=) rs1555100593
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=) rs1555100597
NM_000051.4(ATM):c.4752T>C (p.Ser1584=) rs1555100601
NM_000051.4(ATM):c.4755A>G (p.Arg1585=)
NM_000051.4(ATM):c.4758A>T (p.Gly1586=) rs2135813614
NM_000051.4(ATM):c.4761C>G (p.Pro1587=) rs769562370
NM_000051.4(ATM):c.4770C>A (p.Leu1590=) rs749475519
NM_000051.4(ATM):c.4776+10del rs878853512
NM_000051.4(ATM):c.4776+20C>A rs1565463486
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.4776+7A>C rs2082927524
NM_000051.4(ATM):c.4777-10del rs1398289633
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4777-16A>G rs942981609
NM_000051.4(ATM):c.4777-1_4777insTTACATTTACATTTTAGTTAATTTTAG rs1555101604
NM_000051.4(ATM):c.4777-9C>T rs1214975942
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
NM_000051.4(ATM):c.4797A>C (p.Ser1599=) rs1371876868
NM_000051.4(ATM):c.4800A>T (p.Val1600=)
NM_000051.4(ATM):c.4803T>C (p.Ser1601=) rs964364958
NM_000051.4(ATM):c.4806T>C (p.Val1602=)
NM_000051.4(ATM):c.4809T>C (p.Tyr1603=)
NM_000051.4(ATM):c.4815A>C (p.Ala1605=) rs1591684513
NM_000051.4(ATM):c.4815A>G (p.Ala1605=)
NM_000051.4(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.4(ATM):c.4824G>A (p.Leu1608=) rs1239479673
NM_000051.4(ATM):c.4827A>T (p.Thr1609=)
NM_000051.4(ATM):c.4828A>C (p.Arg1610=)
NM_000051.4(ATM):c.4830A>G (p.Arg1610=)
NM_000051.4(ATM):c.4833T>A (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>G (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4836A>G (p.Glu1612=) rs2135835525
NM_000051.4(ATM):c.483G>A (p.Gln161=) rs864622742
NM_000051.4(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.4(ATM):c.4842A>G (p.Leu1614=) rs1057520429
NM_000051.4(ATM):c.4851T>C (p.Leu1617=)
NM_000051.4(ATM):c.4857A>G (p.Arg1619=) rs1555101850
NM_000051.4(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.4(ATM):c.4861C>T (p.Leu1621=) rs759289039
NM_000051.4(ATM):c.4863G>A (p.Leu1621=)
NM_000051.4(ATM):c.4867C>T (p.Leu1623=)
NM_000051.4(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.4881G>A (p.Gln1627=)
NM_000051.4(ATM):c.4885G>A (p.Val1629Met) rs876660748
NM_000051.4(ATM):c.4887G>A (p.Val1629=)
NM_000051.4(ATM):c.4887G>T (p.Val1629=)
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4902T>G (p.Ala1634=)
NM_000051.4(ATM):c.4909+20T>C rs1401279002
NM_000051.4(ATM):c.4910-7T>C rs3092872
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4917G>C (p.Pro1639=)
NM_000051.4(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4935G>C (p.Val1645=)
NM_000051.4(ATM):c.4938A>G (p.Lys1646=) rs1171877755
NM_000051.4(ATM):c.4939C>T (p.Leu1647=) rs1157451668
NM_000051.4(ATM):c.4941A>G (p.Leu1647=) rs786201667
NM_000051.4(ATM):c.4941A>T (p.Leu1647=)
NM_000051.4(ATM):c.4947C>A (p.Val1649=)
NM_000051.4(ATM):c.4947C>G (p.Val1649=) rs1436324961
NM_000051.4(ATM):c.4953G>A (p.Leu1651=) rs786201297
NM_000051.4(ATM):c.4956G>A (p.Leu1652=) rs2135862508
NM_000051.4(ATM):c.496+14GTT[2] rs1330640039
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.496+20G>A rs751245102
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.496+8T>C rs2135126803
NM_000051.4(ATM):c.4960T>C (p.Leu1654=)
NM_000051.4(ATM):c.4962A>G (p.Leu1654=) rs2135862796
NM_000051.4(ATM):c.4965C>A (p.Ser1655=)
NM_000051.4(ATM):c.4965C>T (p.Ser1655=) rs1555103252
NM_000051.4(ATM):c.4968G>A (p.Lys1656=)
NM_000051.4(ATM):c.497-18T>C rs1555066191
NM_000051.4(ATM):c.497-19A>G rs894871243
NM_000051.4(ATM):c.497-20A>T rs2079692832
NM_000051.4(ATM):c.497-4T>G rs876659621
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.497-5_497-4del rs768748099
NM_000051.4(ATM):c.4974A>G (p.Ala1658=)
NM_000051.4(ATM):c.4977A>C (p.Ile1659=)
NM_000051.4(ATM):c.4983C>T (p.His1661=) rs2083180642
NM_000051.4(ATM):c.4986T>A (p.Thr1662=) rs2083180883
NM_000051.4(ATM):c.4986T>C (p.Thr1662=)
NM_000051.4(ATM):c.4989T>A (p.Gly1663=)
NM_000051.4(ATM):c.4989T>C (p.Gly1663=)
NM_000051.4(ATM):c.4989T>G (p.Gly1663=) rs1591693006
NM_000051.4(ATM):c.4998A>G (p.Glu1666=)
NM_000051.4(ATM):c.5001T>G (p.Val1667=)
NM_000051.4(ATM):c.5004A>G (p.Leu1668=) rs768565424
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005+15T>C rs377355762
NM_000051.4(ATM):c.5005+17C>A rs200688912
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5005+302A>T rs869312480
NM_000051.4(ATM):c.5006-10C>T rs2083315555
NM_000051.4(ATM):c.5006-14A>C rs2083314877
NM_000051.4(ATM):c.5006-4G>A rs1591701752
NM_000051.4(ATM):c.5010T>A (p.Ala1670=)
NM_000051.4(ATM):c.5010T>G (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.5013T>A (p.Val1671=)
NM_000051.4(ATM):c.5013T>G (p.Val1671=)
NM_000051.4(ATM):c.5016A>C (p.Gly1672=)
NM_000051.4(ATM):c.5016A>G (p.Gly1672=)
NM_000051.4(ATM):c.5016A>T (p.Gly1672=)
NM_000051.4(ATM):c.5019C>T (p.Ser1673=) rs1565473483
NM_000051.4(ATM):c.501G>A (p.Leu167=) rs1181703620
NM_000051.4(ATM):c.5023T>C (p.Leu1675=) rs876660275
NM_000051.4(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.4(ATM):c.5040T>G (p.Pro1680=)
NM_000051.4(ATM):c.5043A>C (p.Ile1681=)
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5052T>G (p.Ser1684=)
NM_000051.4(ATM):c.5058A>C (p.Ile1686=)
NM_000051.4(ATM):c.5061T>G (p.Ala1687=)
NM_000051.4(ATM):c.5070T>C (p.His1690=) rs1555104631
NM_000051.4(ATM):c.5076A>G (p.Lys1692=) rs767841041
NM_000051.4(ATM):c.5082A>T (p.Ala1694=)
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
NM_000051.4(ATM):c.5106A>G (p.Leu1702=) rs2083331055
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly) rs2083331705
NM_000051.4(ATM):c.5115T>C (p.Asp1705=) rs876658685
NM_000051.4(ATM):c.5118A>G (p.Lys1706=) rs3218672
NM_000051.4(ATM):c.5121A>G (p.Glu1707=) rs2135891426
NM_000051.4(ATM):c.5133C>T (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5152C>T (p.Leu1718=)
NM_000051.4(ATM):c.516C>T (p.Phe172=) rs1591499730
NM_000051.4(ATM):c.5175T>C (p.Asp1725=) rs1555104803
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-18T>G rs1057522381
NM_000051.4(ATM):c.5178-20A>G rs1565476588
NM_000051.4(ATM):c.5178-4del rs747750958
NM_000051.4(ATM):c.5178T>C (p.Cys1726=)
NM_000051.4(ATM):c.517A>C (p.Arg173=) rs1591499740
NM_000051.4(ATM):c.5181C>T (p.Val1727=)
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.5190A>T (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.51T>C (p.His17=) rs1591446045
NM_000051.4(ATM):c.5202T>A (p.Val1734=)
NM_000051.4(ATM):c.5205C>G (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5205C>T (p.Thr1735=)
NM_000051.4(ATM):c.5208T>C (p.Cys1736=)
NM_000051.4(ATM):c.5217C>T (p.Asn1739=) rs876658271
NM_000051.4(ATM):c.5226C>T (p.Ala1742=) rs750881004
NM_000051.4(ATM):c.5229A>G (p.Thr1743=) rs878853519
NM_000051.4(ATM):c.522C>T (p.Leu174=) rs780173724
NM_000051.4(ATM):c.5235T>A (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>C (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>G (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5238A>G (p.Gly1746=)
NM_000051.4(ATM):c.5256T>A (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.4(ATM):c.5259T>C (p.Tyr1753=)
NM_000051.4(ATM):c.5262G>A (p.Lys1754=) rs748900588
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr) rs1555105739
NM_000051.4(ATM):c.5268A>T (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.526C>T (p.Leu176=) rs375798802
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
NM_000051.4(ATM):c.5283G>T (p.Leu1761=)
NM_000051.4(ATM):c.5290C>T (p.Leu1764=)
NM_000051.4(ATM):c.5292A>G (p.Leu1764=) rs786201703
NM_000051.4(ATM):c.5298T>G (p.Pro1766=)
NM_000051.4(ATM):c.5301T>C (p.Phe1767=) rs1468101040
NM_000051.4(ATM):c.5304A>G (p.Arg1768=) rs1591709095
NM_000051.4(ATM):c.5310A>C (p.Ser1770=)
NM_000051.4(ATM):c.5310A>T (p.Ser1770=)
NM_000051.4(ATM):c.5313A>G (p.Arg1771=) rs1591709164
NM_000051.4(ATM):c.5316A>G (p.Lys1772=)
NM_000051.4(ATM):c.5319+17A>G rs1331649240
NM_000051.4(ATM):c.5319+4T>A rs1170957197
NM_000051.4(ATM):c.5320-13C>T rs1565478723
NM_000051.4(ATM):c.5320-14C>T rs182663175
NM_000051.4(ATM):c.5320-18T>G rs2083494233
NM_000051.4(ATM):c.5320-4C>A
NM_000051.4(ATM):c.5320-5T>C rs1555106308
NM_000051.4(ATM):c.5320-6_5320-3del rs864622386
NM_000051.4(ATM):c.5331A>G (p.Val1777=)
NM_000051.4(ATM):c.5349A>G (p.Glu1783=) rs1555106353
NM_000051.4(ATM):c.534T>C (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.534T>G (p.Pro178=) rs1060504293
NM_000051.4(ATM):c.5358T>C (p.Phe1786=) rs876659725
NM_000051.4(ATM):c.5373T>C (p.Asp1791=) rs2135928197
NM_000051.4(ATM):c.5376A>T (p.Ile1792=) rs1287734608
NM_000051.4(ATM):c.5379T>C (p.Asn1793=)
NM_000051.4(ATM):c.537A>C (p.Ser179=) rs1555066338
NM_000051.4(ATM):c.537A>T (p.Ser179=) rs1555066338
NM_000051.4(ATM):c.5392C>T (p.Leu1798=) rs879254274
NM_000051.4(ATM):c.5400A>G (p.Glu1800=)
NM_000051.4(ATM):c.5409C>T (p.Asp1803=) rs1555106462
NM_000051.4(ATM):c.5436T>G (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5440T>C (p.Leu1814=)
NM_000051.4(ATM):c.5442G>A (p.Leu1814=) rs2083505400
NM_000051.4(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.4(ATM):c.5454C>A (p.Gly1818=)
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5457A>G (p.Thr1819=) rs1555106535
NM_000051.4(ATM):c.5460A>G (p.Lys1820=) rs1591712836
NM_000051.4(ATM):c.5466A>G (p.Glu1822=)
NM_000051.4(ATM):c.5467A>G (p.Ile1823Val)
NM_000051.4(ATM):c.546T>C (p.Val182=)
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5496+13_5496+16del rs1382076363
NM_000051.4(ATM):c.5496+14T>G rs1172938746
NM_000051.4(ATM):c.5496A>G (p.Glu1832=) rs1591713080
NM_000051.4(ATM):c.5497-19A>G rs1555107231
NM_000051.4(ATM):c.549T>C (p.His183=) rs1591499967
NM_000051.4(ATM):c.54T>C (p.Asp18=) rs786203926
NM_000051.4(ATM):c.5508C>T (p.Asp1836=) rs2135942603
NM_000051.4(ATM):c.550A>C (p.Arg184=)
NM_000051.4(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.4(ATM):c.552A>G (p.Arg184=) rs2135223587
NM_000051.4(ATM):c.5535G>A (p.Leu1845=)
NM_000051.4(ATM):c.5541T>C (p.His1847=) rs1555107326
NM_000051.4(ATM):c.5553C>A (p.Leu1851=)
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.555T>C (p.Val185=)
NM_000051.4(ATM):c.5562A>T (p.Thr1854=)
NM_000051.4(ATM):c.5571A>G (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5571A>T (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5575A>C (p.Arg1859=) rs1565481925
NM_000051.4(ATM):c.5580T>C (p.Asn1860=) rs2083598099
NM_000051.4(ATM):c.5581C>T (p.Leu1861=)
NM_000051.4(ATM):c.5583G>C (p.Leu1861=) rs781383087
NM_000051.4(ATM):c.5583G>T (p.Leu1861=) rs781383087
NM_000051.4(ATM):c.5586T>G (p.Leu1862=) rs1555107431
NM_000051.4(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.4(ATM):c.558A>G (p.Leu186=) rs991667156
NM_000051.4(ATM):c.5592A>C (p.Thr1864=)
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.4(ATM):c.5598T>G (p.Val1866=)
NM_000051.4(ATM):c.5601G>A (p.Gln1867=) rs1555107464
NM_000051.4(ATM):c.5613C>G (p.Thr1871=) rs2083601650
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn) rs761257154
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
NM_000051.4(ATM):c.5620C>T (p.Leu1874Phe)
NM_000051.4(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.4(ATM):c.5628C>T (p.His1876=) rs1237700879
NM_000051.4(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.4(ATM):c.564T>G (p.Ala188=)
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala) rs1555107562
NM_000051.4(ATM):c.5652A>G (p.Thr1884=) rs1591718571
NM_000051.4(ATM):c.5655C>T (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.5658T>A (p.Pro1886=) rs940182945
NM_000051.4(ATM):c.565A>C (p.Arg189=) rs2079701086
NM_000051.4(ATM):c.5661A>T (p.Ala1887=) rs876658939
NM_000051.4(ATM):c.5674+13A>G rs1555107618
NM_000051.4(ATM):c.5674+14T>C rs2083608444
NM_000051.4(ATM):c.5675-15A>G rs1565485867
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.567A>G (p.Arg189=) rs1555066398
NM_000051.4(ATM):c.5692C>A (p.Arg1898=)
NM_000051.4(ATM):c.5694A>T (p.Arg1898=)
NM_000051.4(ATM):c.5697C>T (p.Cys1899=) rs753839301
NM_000051.4(ATM):c.5701T>C (p.Leu1901=) rs2135976467
NM_000051.4(ATM):c.5703G>A (p.Leu1901=) rs756979112
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5736T>C (p.Val1912=) rs1060504302
NM_000051.4(ATM):c.5739G>A (p.Val1913=)
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
NM_000051.4(ATM):c.5757A>G (p.Gln1919=) rs1555109182
NM_000051.4(ATM):c.5760G>A (p.Lys1920=)
NM_000051.4(ATM):c.5762+10T>G rs1276744102
NM_000051.4(ATM):c.5762+5T>G
NM_000051.4(ATM):c.577G>A (p.Ala193Thr) rs876659832
NM_000051.4(ATM):c.57A>G (p.Arg19=)
NM_000051.4(ATM):c.585C>T (p.Thr195=)
NM_000051.4(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000051.4(ATM):c.60T>C (p.Ala20=)
NM_000051.4(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.4(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.4(ATM):c.630G>A (p.Leu210=) rs1565369739
NM_000051.4(ATM):c.633C>T (p.Asp211=) rs1060501634
NM_000051.4(ATM):c.636T>C (p.Phe212=) rs1555066499
NM_000051.4(ATM):c.639T>C (p.Phe213=) rs2135226818
NM_000051.4(ATM):c.63A>G (p.Thr21=) rs199853729
NM_000051.4(ATM):c.642C>T (p.Ser214=) rs1555066521
NM_000051.4(ATM):c.645G>A (p.Lys215=) rs2079708544
NM_000051.4(ATM):c.648T>A (p.Ala216=) rs770270310
NM_000051.4(ATM):c.648T>C (p.Ala216=) rs770270310
NM_000051.4(ATM):c.648T>G (p.Ala216=) rs770270310
NM_000051.4(ATM):c.662+13C>G rs1565369998
NM_000051.4(ATM):c.662+18T>C rs2079712629
NM_000051.4(ATM):c.662+18del rs1565370014
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.663-20G>C rs1555066898
NM_000051.4(ATM):c.666A>G (p.Gln222=)
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.675C>T (p.Ser225=) rs1555066940
NM_000051.4(ATM):c.67C>A (p.Arg23=) rs746235533
NM_000051.4(ATM):c.684T>C (p.Gly228=) rs1591503368
NM_000051.4(ATM):c.684T>G (p.Gly228=)
NM_000051.4(ATM):c.687A>C (p.Leu229=) rs3218706
NM_000051.4(ATM):c.687A>G (p.Leu229=) rs3218706
NM_000051.4(ATM):c.687A>T (p.Leu229=)
NM_000051.4(ATM):c.693T>C (p.His231=) rs1555066993
NM_000051.4(ATM):c.696C>T (p.Ile232=) rs1591503507
NM_000051.4(ATM):c.699A>G (p.Leu233=) rs1555067006
NM_000051.4(ATM):c.705T>C (p.Ala235=) rs756175724
NM_000051.4(ATM):c.706C>T (p.Leu236Phe) rs886042866
NM_000051.4(ATM):c.708T>C (p.Leu236=)
NM_000051.4(ATM):c.711T>C (p.Thr237=) rs1294159555
NM_000051.4(ATM):c.72+16A>C rs1565344289
NM_000051.4(ATM):c.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.726T>C (p.Thr242=) rs1555067070
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.732T>C (p.Ala244=)
NM_000051.4(ATM):c.738C>T (p.Asn246=)
NM_000051.4(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.4(ATM):c.744A>C (p.Arg248=) rs1591503905
NM_000051.4(ATM):c.750A>G (p.Arg250=) rs1555067112
NM_000051.4(ATM):c.756T>C (p.Cys252=) rs2079762952
NM_000051.4(ATM):c.765A>C (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.768T>C (p.Asp256=)
NM_000051.4(ATM):c.771A>G (p.Glu257=) rs786201068
NM_000051.4(ATM):c.780C>T (p.Pro260=) rs1591504144
NM_000051.4(ATM):c.795T>A (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.795T>C (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.801T>C (p.Thr267=) rs1555067173
NM_000051.4(ATM):c.834C>A (p.Val278=)
NM_000051.4(ATM):c.834C>G (p.Val278=) rs2079769316
NM_000051.4(ATM):c.844T>C (p.Leu282=) rs1565371944
NM_000051.4(ATM):c.84G>A (p.Glu28=) rs1591446775
NM_000051.4(ATM):c.855G>A (p.Leu285=) rs863224299
NM_000051.4(ATM):c.855G>C (p.Leu285=) rs863224299
NM_000051.4(ATM):c.867C>T (p.Ile289=)
NM_000051.4(ATM):c.876G>T (p.Pro292=) rs755860432
NM_000051.4(ATM):c.87A>G (p.Lys29=) rs1591446799
NM_000051.4(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.4(ATM):c.894A>G (p.Gln298=)
NM_000051.4(ATM):c.901+17T>C rs774302699
NM_000051.4(ATM):c.901+18A>G rs1555067368
NM_000051.4(ATM):c.901+8G>A rs1468806933
NM_000051.4(ATM):c.903T>A (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>C (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.4(ATM):c.906T>C (p.Ala302=)
NM_000051.4(ATM):c.909T>C (p.Tyr303=) rs1555068288
NM_000051.4(ATM):c.90T>C (p.Phe30=)
NM_000051.4(ATM):c.925A>C (p.Arg309=) rs876659841
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.93G>A (p.Lys31=) rs863224583
NM_000051.4(ATM):c.942C>T (p.Asn314=)
NM_000051.4(ATM):c.945A>G (p.Leu315=)
NM_000051.4(ATM):c.948T>C (p.Tyr316=) rs775091961
NM_000051.4(ATM):c.954G>A (p.Leu318=) rs1591510739
NM_000051.4(ATM):c.957A>G (p.Leu319=) rs1060501542
NM_000051.4(ATM):c.966G>A (p.Glu322=)
NM_000051.4(ATM):c.96C>T (p.Arg32=) rs1305090923
NM_000051.4(ATM):c.975T>C (p.His325=) rs746825207
NM_000051.4(ATM):c.987A>G (p.Arg329=) rs2079884541
NM_000051.4(ATM):c.990A>G (p.Gly330=) rs1555068447
NM_000051.4(ATM):c.9A>G (p.Leu3=) rs1555053869

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.