ClinVar Miner

List of variants reported as likely benign for Ataxia-telangiectasia syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3672
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.8418+13C>T rs372552946 0.00041
NM_000051.4(ATM):c.4109+54A>T rs181020146 0.00040
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
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.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 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.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 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.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.3077+4G>A rs201222237 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.7629+146A>G rs769608929 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 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.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.8154C>T (p.Gly2718=) rs371021126 0.00011
NM_000051.4(ATM):c.6572+11C>T rs368049107 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.7789-15G>C rs781449587 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 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.4237-71A>G rs45547832 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 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.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000051.4(ATM):c.3284+16T>G rs376541962 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 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.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.1887C>T (p.Ser629=) rs143097772 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.3639T>C (p.His1213=) rs142766756 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.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.6486C>T (p.Ser2162=) rs138166710 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000051.4(ATM):c.7602C>T (p.Gly2534=) rs562264493 0.00006
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.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.5675-13T>A rs373219694 0.00005
NM_000051.4(ATM):c.6573-16A>G rs764506673 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 0.00005
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.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.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2124+13A>T rs199648955 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.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.3777G>A (p.Leu1259=) rs780192529 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.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.5868C>T (p.Leu1956=) rs540054724 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000051.4(ATM):c.7890A>G (p.Leu2630=) rs756181210 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.8786+20G>C rs56283878 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 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.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.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.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.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.3373T>C (p.Leu1125=) rs775277598 0.00003
NM_000051.4(ATM):c.3402+10A>C rs919002854 0.00003
NM_000051.4(ATM):c.4008C>T (p.Phe1336=) rs748055132 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 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.5005+7T>C rs527286038 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 0.00003
NM_000051.4(ATM):c.6219C>T (p.Leu2073=) rs752478345 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6452+17A>G rs371044809 0.00003
NM_000051.4(ATM):c.6453-15C>A rs763296454 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.6526T>C (p.Leu2176=) rs143715818 0.00003
NM_000051.4(ATM):c.6636C>T (p.Leu2212=) rs876659563 0.00003
NM_000051.4(ATM):c.6678A>G (p.Leu2226=) rs772173373 0.00003
NM_000051.4(ATM):c.6807+20A>G rs369001797 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7191A>G (p.Gln2397=) rs768906734 0.00003
NM_000051.4(ATM):c.7431A>T (p.Gly2477=) rs1158876832 0.00003
NM_000051.4(ATM):c.7516-17del rs1223140309 0.00003
NM_000051.4(ATM):c.7516-19_7516-18insAA rs1361261201 0.00003
NM_000051.4(ATM):c.7927+10T>C rs730881277 0.00003
NM_000051.4(ATM):c.7989T>C (p.Val2663=) rs774232968 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8152-6C>T rs200389039 0.00003
NM_000051.4(ATM):c.8248T>C (p.Leu2750=) rs876658559 0.00003
NM_000051.4(ATM):c.8419-16_8419-13del rs774275044 0.00003
NM_000051.4(ATM):c.8851-19A>G rs772496794 0.00003
NM_000051.4(ATM):c.8964C>T (p.Asp2988=) rs969795398 0.00003
NM_000051.4(ATM):c.1065+17A>C rs373230921 0.00002
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00002
NM_000051.4(ATM):c.1235+20T>G rs762656752 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.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.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.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.3746+16A>T rs1252299197 0.00002
NM_000051.4(ATM):c.3747-9T>C rs760676626 0.00002
NM_000051.4(ATM):c.381A>G (p.Thr127=) rs762582522 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 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.5319+8A>G rs375051697 0.00002
NM_000051.4(ATM):c.5364C>T (p.Gly1788=) rs780134093 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 0.00002
NM_000051.4(ATM):c.5817A>G (p.Leu1939=) rs749652134 0.00002
NM_000051.4(ATM):c.6042G>A (p.Glu2014=) rs138987778 0.00002
NM_000051.4(ATM):c.6153C>T (p.Leu2051=) rs876658452 0.00002
NM_000051.4(ATM):c.6219C>G (p.Leu2073=) rs752478345 0.00002
NM_000051.4(ATM):c.6246A>G (p.Lys2082=) rs745977589 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6540A>G (p.Gly2180=) rs767516615 0.00002
NM_000051.4(ATM):c.6573-17dup rs1565517900 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.6897C>T (p.Phe2299=) rs777164914 0.00002
NM_000051.4(ATM):c.7038A>T (p.Ala2346=) rs146167034 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=) rs772228129 0.00002
NM_000051.4(ATM):c.7788+19C>T rs201990371 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8164C>T (p.Leu2722=) rs587782399 0.00002
NM_000051.4(ATM):c.8169A>G (p.Arg2723=) rs780495319 0.00002
NM_000051.4(ATM):c.8268+6T>A rs747153940 0.00002
NM_000051.4(ATM):c.8269-16T>C rs375051442 0.00002
NM_000051.4(ATM):c.8427A>G (p.Gln2809=) rs538173062 0.00002
NM_000051.4(ATM):c.852A>G (p.Gln284=) rs140367473 0.00002
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000051.4(ATM):c.8786+11T>C rs368627124 0.00002
NM_000051.4(ATM):c.8786+12G>A rs767836309 0.00002
NM_000051.4(ATM):c.9045G>A (p.Glu3015=) rs786203336 0.00002
NM_000051.4(ATM):c.1023C>T (p.Val341=) rs35728619 0.00001
NM_000051.4(ATM):c.1029A>G (p.Glu343=) rs778388800 0.00001
NM_000051.4(ATM):c.1038T>A (p.Ile346=) rs749950833 0.00001
NM_000051.4(ATM):c.1065+18T>A rs774940342 0.00001
NM_000051.4(ATM):c.1110C>T (p.Tyr370=) rs376170600 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 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.1235+5A>T rs1064793679 0.00001
NM_000051.4(ATM):c.1236-8T>C rs756160331 0.00001
NM_000051.4(ATM):c.1242G>A (p.Gln414=) rs786203667 0.00001
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro) rs376196220 0.00001
NM_000051.4(ATM):c.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.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.1536T>A (p.Ile512=) rs1060504296 0.00001
NM_000051.4(ATM):c.153A>G (p.Gln51=) rs2078823585 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.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.1748A>G (p.Tyr583Cys) rs587780614 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.1802+7T>G rs1057521381 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+7T>C rs143404880 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.186-19G>A rs748791429 0.00001
NM_000051.4(ATM):c.186-8T>C rs1355404740 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.1899-15C>A rs759924007 0.00001
NM_000051.4(ATM):c.1899-9T>G rs1591533635 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.2019G>A (p.Lys673=) rs786203021 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.2125-11T>A rs1054208254 0.00001
NM_000051.4(ATM):c.2125-8A>G rs757565418 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.2251-7A>G rs879254103 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+16T>C rs751221076 0.00001
NM_000051.4(ATM):c.2377-13G>C rs1296989358 0.00001
NM_000051.4(ATM):c.2377-18T>C rs761207086 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2379G>A (p.Lys793=) rs1333875379 0.00001
NM_000051.4(ATM):c.2419T>C (p.Leu807=) rs1555076667 0.00001
NM_000051.4(ATM):c.2466+19T>G rs374249638 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-12T>G rs1469467036 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.2467-9T>A rs1555082040 0.00001
NM_000051.4(ATM):c.246A>G (p.Val82=) rs757944864 0.00001
NM_000051.4(ATM):c.2475C>T (p.Phe825=) rs776907383 0.00001
NM_000051.4(ATM):c.2532A>G (p.Gly844=) rs755261743 0.00001
NM_000051.4(ATM):c.2550G>A (p.Glu850=) rs1399925352 0.00001
NM_000051.4(ATM):c.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 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.2639-18A>G rs1555083057 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+13A>G rs778502800 0.00001
NM_000051.4(ATM):c.2838+20G>A rs1310769991 0.00001
NM_000051.4(ATM):c.2838+8dup rs1364656453 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 0.00001
NM_000051.4(ATM):c.2839-16C>T rs761953913 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 0.00001
NM_000051.4(ATM):c.2862T>C (p.Leu954=) rs1426256662 0.00001
NM_000051.4(ATM):c.2921+15C>A rs1057521619 0.00001
NM_000051.4(ATM):c.2922-20T>G rs768172184 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2940T>C (p.Tyr980=) rs748119565 0.00001
NM_000051.4(ATM):c.2970T>C (p.Ile990=) rs2081569239 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.3099A>G (p.Lys1033=) rs1813895840 0.00001
NM_000051.4(ATM):c.309C>T (p.Tyr103=) rs777499935 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3114A>T (p.Val1038=) rs374451781 0.00001
NM_000051.4(ATM):c.3126A>G (p.Leu1042=) rs770038542 0.00001
NM_000051.4(ATM):c.3132T>C (p.Asn1044=) rs1430714562 0.00001
NM_000051.4(ATM):c.3138T>G (p.Leu1046=) rs3092858 0.00001
NM_000051.4(ATM):c.3153+11G>A rs760086749 0.00001
NM_000051.4(ATM):c.3153+18T>C rs1555085921 0.00001
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00001
NM_000051.4(ATM):c.3154-16A>G rs556888479 0.00001
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=) rs768038217 0.00001
NM_000051.4(ATM):c.3189A>G (p.Val1063=) rs76122065 0.00001
NM_000051.4(ATM):c.3216A>G (p.Glu1072=) rs373699194 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3283A>C (p.Arg1095=) rs876660302 0.00001
NM_000051.4(ATM):c.3284+6G>C rs1228954245 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3285-19T>C rs749167327 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.331+10G>A rs755557468 0.00001
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.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.3453A>G (p.Lys1151=) rs977448999 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.3558A>G (p.Glu1186=) rs12786957 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.3627T>C (p.Phe1209=) rs762605020 0.00001
NM_000051.4(ATM):c.366T>C (p.Asn122=) rs1178025248 0.00001
NM_000051.4(ATM):c.3720C>T (p.Asn1240=) rs1478427829 0.00001
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=) rs772331389 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.3746+12C>A rs768841674 0.00001
NM_000051.4(ATM):c.3746+17C>T rs1057520850 0.00001
NM_000051.4(ATM):c.3747-8A>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.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3918T>C (p.Ser1306=) rs139632347 0.00001
NM_000051.4(ATM):c.3921G>A (p.Gly1307=) rs969461745 0.00001
NM_000051.4(ATM):c.3951G>A (p.Lys1317=) rs1485996895 0.00001
NM_000051.4(ATM):c.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.4101C>T (p.Asp1367=) rs587780623 0.00001
NM_000051.4(ATM):c.4109+10T>C rs1236628481 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.4109+9A>C rs730881289 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.4110-9C>A rs730881367 0.00001
NM_000051.4(ATM):c.4114T>C (p.Leu1372=) rs762242838 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.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.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.4237-13G>A rs778685615 0.00001
NM_000051.4(ATM):c.4237-18A>G rs756842639 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.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.4437-12T>C rs772888878 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.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.4777-4T>C rs756025941 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.4853G>A (p.Arg1618Gln) rs765759912 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.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.497-14_497-13insC rs776788385 0.00001
NM_000051.4(ATM):c.497-4T>A rs876659621 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.5039C>T (p.Pro1680Leu) rs587782153 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.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.5220T>A (p.Ile1740=) rs1452225772 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+7T>A rs925428128 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5320-4C>G rs1316146972 0.00001
NM_000051.4(ATM):c.5355T>G (p.Pro1785=) rs1025083720 0.00001
NM_000051.4(ATM):c.5382G>A (p.Leu1794=) rs188362115 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5497-10T>C rs1457831101 0.00001
NM_000051.4(ATM):c.5544T>C (p.Asp1848=) rs146568734 0.00001
NM_000051.4(ATM):c.5553C>G (p.Leu1851=) rs786201126 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.5633C>T (p.Ser1878Leu) rs758908522 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.5688T>C (p.Phe1896=) rs2083815927 0.00001
NM_000051.4(ATM):c.5718A>G (p.Gln1906=) rs863224293 0.00001
NM_000051.4(ATM):c.573T>A (p.Ile191=) rs775003417 0.00001
NM_000051.4(ATM):c.5762+19C>T rs1170960696 0.00001
NM_000051.4(ATM):c.5763-19A>G rs967402817 0.00001
NM_000051.4(ATM):c.5835T>G (p.Ala1945=) rs768106055 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5886A>G (p.Ala1962=) rs1057522876 0.00001
NM_000051.4(ATM):c.5918+7G>A rs1423323603 0.00001
NM_000051.4(ATM):c.5919-19G>A rs1679583556 0.00001
NM_000051.4(ATM):c.5919-8A>G rs1176654682 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.5964C>T (p.Ser1988=) rs774260725 0.00001
NM_000051.4(ATM):c.6006+13G>C rs368207631 0.00001
NM_000051.4(ATM):c.6006+17C>G rs1218097012 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6007-10A>G rs373395916 0.00001
NM_000051.4(ATM):c.6007-16G>A rs771998564 0.00001
NM_000051.4(ATM):c.6012T>C (p.Leu2004=) rs1324998068 0.00001
NM_000051.4(ATM):c.6015C>T (p.Leu2005=) rs1397821498 0.00001
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=) rs777534711 0.00001
NM_000051.4(ATM):c.6095+8G>T rs547072690 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6097C>T (p.Leu2033=) rs769813736 0.00001
NM_000051.4(ATM):c.6105A>G (p.Thr2035=) rs1555113708 0.00001
NM_000051.4(ATM):c.6192C>A (p.Ile2064=) rs876659831 0.00001
NM_000051.4(ATM):c.6198+11T>C rs774664615 0.00001
NM_000051.4(ATM):c.6199-6G>A rs1555114529 0.00001
NM_000051.4(ATM):c.6250T>C (p.Leu2084=) rs772608345 0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.6336C>T (p.Cys2112=) rs755845798 0.00001
NM_000051.4(ATM):c.6342C>T (p.Ser2114=) rs754020535 0.00001
NM_000051.4(ATM):c.6348-5C>A rs1388651064 0.00001
NM_000051.4(ATM):c.6394C>T (p.Leu2132=) rs551408889 0.00001
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=) rs1057519167 0.00001
NM_000051.4(ATM):c.6452+13G>A rs760228732 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.6453-17T>G rs1057522251 0.00001
NM_000051.4(ATM):c.6456A>G (p.Val2152=) rs876660014 0.00001
NM_000051.4(ATM):c.6504G>A (p.Ser2168=) rs786203522 0.00001
NM_000051.4(ATM):c.6507C>G (p.Leu2169=) rs863224295 0.00001
NM_000051.4(ATM):c.6516A>G (p.Thr2172=) rs576254168 0.00001
NM_000051.4(ATM):c.6558G>A (p.Gly2186=) rs1555117263 0.00001
NM_000051.4(ATM):c.6572+13T>C rs1441875536 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.663-19C>G rs1044060944 0.00001
NM_000051.4(ATM):c.6630G>A (p.Gln2210=) rs777515589 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6687C>A (p.Val2229=) rs1442555144 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000051.4(ATM):c.6756C>T (p.Thr2252=) rs1008212556 0.00001
NM_000051.4(ATM):c.6807+10A>G rs924117395 0.00001
NM_000051.4(ATM):c.6808-13A>G rs1410228904 0.00001
NM_000051.4(ATM):c.6808-20A>G rs1240565463 0.00001
NM_000051.4(ATM):c.6846T>C (p.Asn2282=) rs541718119 0.00001
NM_000051.4(ATM):c.6924C>A (p.Ala2308=) rs759878732 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6927G>T (p.Leu2309=) rs876660429 0.00001
NM_000051.4(ATM):c.6936C>T (p.Leu2312=) rs1555119992 0.00001
NM_000051.4(ATM):c.6966C>T (p.Ser2322=) rs864622593 0.00001
NM_000051.4(ATM):c.6975+7T>A rs754834282 0.00001
NM_000051.4(ATM):c.6975+9T>C rs1290573965 0.00001
NM_000051.4(ATM):c.6976-6dup rs760058702 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.7017G>A (p.Arg2339=) rs1591142466 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.7089+20C>T rs730881275 0.00001
NM_000051.4(ATM):c.7110T>C (p.Asn2370=) rs752476328 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7131T>C (p.Asp2377=) rs373309822 0.00001
NM_000051.4(ATM):c.7134G>A (p.Glu2378=) rs376185463 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.7209C>T (p.Asn2403=) rs373662499 0.00001
NM_000051.4(ATM):c.7221A>G (p.Ser2407=) rs786201881 0.00001
NM_000051.4(ATM):c.7266G>A (p.Glu2422=) rs876659834 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.7302A>T (p.Thr2434=) rs752125292 0.00001
NM_000051.4(ATM):c.7307+18A>C rs777909508 0.00001
NM_000051.4(ATM):c.7308-10T>G rs745319720 0.00001
NM_000051.4(ATM):c.7308-20C>T rs778603753 0.00001
NM_000051.4(ATM):c.7314A>C (p.Thr2438=) rs199909913 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.7359T>G (p.Arg2453=) rs786201541 0.00001
NM_000051.4(ATM):c.7363C>T (p.Leu2455=) rs147665149 0.00001
NM_000051.4(ATM):c.7371G>A (p.Glu2457=) rs1454725863 0.00001
NM_000051.4(ATM):c.7383C>T (p.Arg2461=) rs1429991894 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7516-15T>G rs1400642000 0.00001
NM_000051.4(ATM):c.7539A>G (p.Thr2513=) rs752294923 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7545A>G (p.Lys2515=) rs1467809725 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.7620C>A (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7620C>T (p.Val2540=) rs863224298 0.00001
NM_000051.4(ATM):c.7629+12T>C rs373731708 0.00001
NM_000051.4(ATM):c.7629+20A>C rs2086239323 0.00001
NM_000051.4(ATM):c.7629T>C (p.Asn2543=) rs767123895 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.7630-12C>G rs911541230 0.00001
NM_000051.4(ATM):c.7630-15G>T rs773603597 0.00001
NM_000051.4(ATM):c.7630-4A>G rs1057523067 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.7707T>C (p.Asp2569=) rs1183350500 0.00001
NM_000051.4(ATM):c.7716G>C (p.Leu2572=) rs763730344 0.00001
NM_000051.4(ATM):c.7788+20G>A rs775245736 0.00001
NM_000051.4(ATM):c.7788+7G>A rs749610251 0.00001
NM_000051.4(ATM):c.7821T>C (p.Cys2607=) rs771607956 0.00001
NM_000051.4(ATM):c.7905C>T (p.Ala2635=) rs757829783 0.00001
NM_000051.4(ATM):c.7927+13T>A rs748853277 0.00001
NM_000051.4(ATM):c.7928-6A>T rs373509918 0.00001
NM_000051.4(ATM):c.7974T>C (p.Asn2658=) rs777548685 0.00001
NM_000051.4(ATM):c.8010+19_8010+20del rs1325965934 0.00001
NM_000051.4(ATM):c.8010+5T>A rs56256497 0.00001
NM_000051.4(ATM):c.8011-18T>C rs768522292 0.00001
NM_000051.4(ATM):c.8019C>T (p.His2673=) rs1181283176 0.00001
NM_000051.4(ATM):c.804A>G (p.Gln268=) rs2079766818 0.00001
NM_000051.4(ATM):c.8109T>C (p.Asp2703=) rs201689025 0.00001
NM_000051.4(ATM):c.8112T>C (p.Cys2704=) rs786201543 0.00001
NM_000051.4(ATM):c.8151+17C>G rs761029795 0.00001
NM_000051.4(ATM):c.8152-17G>A rs368924012 0.00001
NM_000051.4(ATM):c.8152-8T>A rs752705487 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8193C>T (p.Val2731=) rs1060504307 0.00001
NM_000051.4(ATM):c.8199G>A (p.Gln2733=) rs770552705 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=) rs758654836 0.00001
NM_000051.4(ATM):c.8268+11G>A rs769204788 0.00001
NM_000051.4(ATM):c.8268+13A>T rs1400036072 0.00001
NM_000051.4(ATM):c.8268+18T>C rs1555128701 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.834C>T (p.Val278=) rs2079769316 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8385T>C (p.Asp2795=) rs1251164631 0.00001
NM_000051.4(ATM):c.8418+11C>A rs1277361086 0.00001
NM_000051.4(ATM):c.8466T>C (p.Asp2822=) rs1057523224 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8584+19T>C rs772128061 0.00001
NM_000051.4(ATM):c.8584+6C>G rs863224300 0.00001
NM_000051.4(ATM):c.8585-4C>A rs1555139447 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.8595A>T (p.Ile2865=) rs777245630 0.00001
NM_000051.4(ATM):c.8671+15C>A rs1438943849 0.00001
NM_000051.4(ATM):c.8671+17A>G rs765608446 0.00001
NM_000051.4(ATM):c.8671+19G>C rs1308810219 0.00001
NM_000051.4(ATM):c.8672-19A>T rs1381779608 0.00001
NM_000051.4(ATM):c.8676T>A (p.Val2892=) rs1401097446 0.00001
NM_000051.4(ATM):c.8709T>C (p.Pro2903=) rs773208089 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.8786+15G>A rs866338415 0.00001
NM_000051.4(ATM):c.8787-14G>A rs994348665 0.00001
NM_000051.4(ATM):c.8787-15T>C rs1057521788 0.00001
NM_000051.4(ATM):c.8787-4C>G rs944858078 0.00001
NM_000051.4(ATM):c.8820C>T (p.Asn2940=) rs775823407 0.00001
NM_000051.4(ATM):c.8844T>C (p.Ile2948=) rs878853551 0.00001
NM_000051.4(ATM):c.8847A>G (p.Val2949=) rs876658820 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8850+17G>A rs1027667991 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8851-8C>T rs768937303 0.00001
NM_000051.4(ATM):c.8859A>G (p.Leu2953=) rs773994431 0.00001
NM_000051.4(ATM):c.8871C>G (p.Leu2957=) rs1555151266 0.00001
NM_000051.4(ATM):c.8902T>C (p.Leu2968=) rs775313366 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000051.4(ATM):c.8940T>G (p.Leu2980=) rs576335919 0.00001
NM_000051.4(ATM):c.8955T>C (p.Asn2985=) rs755561691 0.00001
NM_000051.4(ATM):c.8987+19A>G rs1403885730 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.8988-7T>G rs1487809821 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.9049C>T (p.Leu3017=) rs876658991 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.9072T>G (p.Thr3024=) rs1308894113 0.00001
NM_000051.4(ATM):c.9087T>G (p.Gly3029=) rs759675675 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_000051.4(ATM):c.1008T>C (p.Phe336=) rs1555068492
NM_000051.4(ATM):c.1014T>C (p.Asn338=) rs1555068510
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.102T>A (p.Ile34=) rs2135011891
NM_000051.4(ATM):c.1035G>A (p.Leu345=) rs2135268584
NM_000051.4(ATM):c.1041A>G (p.Glu347=) rs2135268758
NM_000051.4(ATM):c.1042T>C (p.Leu348=) rs746733866
NM_000051.4(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.4(ATM):c.1050A>G (p.Ala350=) rs1591511442
NM_000051.4(ATM):c.1056C>T (p.Ile352=) rs1555068605
NM_000051.4(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.4(ATM):c.105A>G (p.Arg35=)
NM_000051.4(ATM):c.1062C>T (p.His354=) rs773365379
NM_000051.4(ATM):c.1065+10G>A rs1591511658
NM_000051.4(ATM):c.1065+13G>C
NM_000051.4(ATM):c.1065+14G>A rs2135270151
NM_000051.4(ATM):c.1065+17A>G rs373230921
NM_000051.4(ATM):c.1065+18T>C
NM_000051.4(ATM):c.1065+19G>A
NM_000051.4(ATM):c.1065+20T>C
NM_000051.4(ATM):c.1065+4C>T rs1591511595
NM_000051.4(ATM):c.1065+5A>T rs1204741025
NM_000051.4(ATM):c.1065+8A>C rs2135270000
NM_000051.4(ATM):c.1065+9_1065+12del rs1486083030
NM_000051.4(ATM):c.1066-10T>C rs2135289561
NM_000051.4(ATM):c.1066-16T>C
NM_000051.4(ATM):c.1066-19A>T
NM_000051.4(ATM):c.1066-9A>G rs774334532
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.1080T>C (p.Asp360=) rs199869975
NM_000051.4(ATM):c.1084A>C (p.Arg362=)
NM_000051.4(ATM):c.1086A>G (p.Arg362=) rs142591268
NM_000051.4(ATM):c.1089C>G (p.Ser363=)
NM_000051.4(ATM):c.1089C>T (p.Ser363=) rs1555069567
NM_000051.4(ATM):c.1101T>A (p.Ser367=)
NM_000051.4(ATM):c.1101T>C (p.Ser367=)
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.1122A>G (p.Gln374=) rs1264315069
NM_000051.4(ATM):c.1125A>G (p.Arg375=) rs2135292242
NM_000051.4(ATM):c.1128A>G (p.Glu376=) rs1186427608
NM_000051.4(ATM):c.1131T>A (p.Ser377=)
NM_000051.4(ATM):c.1131T>C (p.Ser377=) rs2135292457
NM_000051.4(ATM):c.1134T>C (p.Ser378=)
NM_000051.4(ATM):c.1140C>T (p.Tyr380=) rs2135292742
NM_000051.4(ATM):c.1143T>C (p.Ser381=) rs755991658
NM_000051.4(ATM):c.1146C>A (p.Val382=) rs786201150
NM_000051.4(ATM):c.1146C>G (p.Val382=) rs786201150
NM_000051.4(ATM):c.1146C>T (p.Val382=) rs786201150
NM_000051.4(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.4(ATM):c.114A>G (p.Glu38=) rs1591446969
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.117A>G (p.Thr39=)
NM_000051.4(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.4(ATM):c.1194T>C (p.Asp398=) rs551872656
NM_000051.4(ATM):c.1200T>C (p.Leu400=) rs1274342103
NM_000051.4(ATM):c.1209A>C (p.Ser403=)
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.4(ATM):c.1215T>C (p.Asn405=) rs2135295261
NM_000051.4(ATM):c.1218T>C (p.Asp406=) rs2135295378
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.1230G>T (p.Val410=) rs1555069869
NM_000051.4(ATM):c.1233T>C (p.Pro411=)
NM_000051.4(ATM):c.1233T>G (p.Pro411=) rs1591518323
NM_000051.4(ATM):c.1235+10T>C
NM_000051.4(ATM):c.1235+10_1235+28del rs1591518436
NM_000051.4(ATM):c.1235+11A>G rs2135296543
NM_000051.4(ATM):c.1235+16T>G
NM_000051.4(ATM):c.1235+19C>T
NM_000051.4(ATM):c.1235+20T>C rs762656752
NM_000051.4(ATM):c.1235+8G>A
NM_000051.4(ATM):c.1236-10T>C rs1364244917
NM_000051.4(ATM):c.1236-14_1236-13insA
NM_000051.4(ATM):c.1236-14_1236-13insC
NM_000051.4(ATM):c.1236-17T>G
NM_000051.4(ATM):c.1236-18C>T rs201767651
NM_000051.4(ATM):c.1236-18_1236-17dup
NM_000051.4(ATM):c.1236-19C>A
NM_000051.4(ATM):c.1236-19C>G
NM_000051.4(ATM):c.1236-19_1236-18insT rs1211190659
NM_000051.4(ATM):c.1236-20_1236-19insA
NM_000051.4(ATM):c.1236-3_1236-2insC rs730881281
NM_000051.4(ATM):c.1236-4_1236-3insC rs2135315149
NM_000051.4(ATM):c.1236-6T>C
NM_000051.4(ATM):c.1236-6_1236-5insC rs878853483
NM_000051.4(ATM):c.1236-7T>C rs2080086515
NM_000051.4(ATM):c.1236-7_1236-6insA
NM_000051.4(ATM):c.1236-9T>C rs2135314849
NM_000051.4(ATM):c.1236-9T>G rs2135314849
NM_000051.4(ATM):c.1236-9_1236-8insC rs863224290
NM_000051.4(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.4(ATM):c.123A>G (p.Lys41=) rs2135012681
NM_000051.4(ATM):c.1245T>C (p.Ile415=)
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.1257A>G (p.Leu419=) rs779037197
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.1266G>A (p.Lys422=) rs1057520445
NM_000051.4(ATM):c.1275A>G (p.Ala425=) rs1591523031
NM_000051.4(ATM):c.1278T>C (p.Ser426=)
NM_000051.4(ATM):c.127C>T (p.Leu43=) rs772591447
NM_000051.4(ATM):c.1293G>A (p.Glu431=) rs2135317554
NM_000051.4(ATM):c.1293_1294delinsAT (p.Glu431_Leu432=) rs1591523100
NM_000051.4(ATM):c.1296G>A (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1296G>C (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.1314A>T (p.Ile438=)
NM_000051.4(ATM):c.1320T>G (p.Ser440=)
NM_000051.4(ATM):c.1323G>A (p.Gln441=) rs2080095950
NM_000051.4(ATM):c.1326T>A (p.Leu442=)
NM_000051.4(ATM):c.1327C>T (p.Leu443=) rs1057524185
NM_000051.4(ATM):c.1329A>G (p.Leu443=) rs201460863
NM_000051.4(ATM):c.1332C>T (p.Pro444=)
NM_000051.4(ATM):c.133C>A (p.Arg45=) rs3218684
NM_000051.4(ATM):c.1341A>T (p.Arg447=) rs2135319279
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.1365G>A (p.Val455=) rs765130666
NM_000051.4(ATM):c.1371A>T (p.Arg457=)
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.1383A>G (p.Glu461=) rs748493136
NM_000051.4(ATM):c.1386T>C (p.Val462=)
NM_000051.4(ATM):c.1386T>G (p.Val462=)
NM_000051.4(ATM):c.1389A>G (p.Ala463=) rs2080102935
NM_000051.4(ATM):c.1390T>C (p.Leu464=)
NM_000051.4(ATM):c.1395T>C (p.Cys465=)
NM_000051.4(ATM):c.1404G>A (p.Lys468=) rs2135321676
NM_000051.4(ATM):c.1410A>C (p.Ser470=) rs939650649
NM_000051.4(ATM):c.1416A>G (p.Leu472=) rs786201691
NM_000051.4(ATM):c.1419A>G (p.Glu473=) rs2135322174
NM_000051.4(ATM):c.1422C>T (p.Ser474=)
NM_000051.4(ATM):c.1425A>G (p.Ser475=) rs2080105606
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.1449C>G (p.Leu483=) rs948934905
NM_000051.4(ATM):c.1473C>A (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1473C>T (p.Thr491=) rs764937436
NM_000051.4(ATM):c.1476T>C (p.Phe492=) rs1591524241
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.1488T>C (p.Ser496=)
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.1506T>C (p.Ala502=)
NM_000051.4(ATM):c.1518C>G (p.Gly506=) rs864622528
NM_000051.4(ATM):c.1518C>T (p.Gly506=) rs864622528
NM_000051.4(ATM):c.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.1561A>C (p.Arg521=) rs2080118357
NM_000051.4(ATM):c.1566A>G (p.Glu522=)
NM_000051.4(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.1581T>C (p.Phe527=) rs1555071227
NM_000051.4(ATM):c.1584T>A (p.Thr528=)
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.1590A>G (p.Ser530=) rs2135327907
NM_000051.4(ATM):c.1599A>G (p.Arg533=) rs1555071269
NM_000051.4(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.4(ATM):c.15T>G (p.Leu5=) rs1357506783
NM_000051.4(ATM):c.1602T>C (p.Pro534=) rs1555071275
NM_000051.4(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1605A>T (p.Ser535=) rs1060504290
NM_000051.4(ATM):c.1607+10G>A rs1555071298
NM_000051.4(ATM):c.1607+10G>C rs1555071298
NM_000051.4(ATM):c.1607+10G>T rs1555071298
NM_000051.4(ATM):c.1607+11C>A rs955225694
NM_000051.4(ATM):c.1607+11C>T
NM_000051.4(ATM):c.1607+12A>G
NM_000051.4(ATM):c.1607+13T>C rs1057522249
NM_000051.4(ATM):c.1607+14G>A
NM_000051.4(ATM):c.1607+15C>T
NM_000051.4(ATM):c.1607+18T>C
NM_000051.4(ATM):c.1607+18del rs1259647838
NM_000051.4(ATM):c.1607+19A>C
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1607+21_1607+29del
NM_000051.4(ATM):c.1607+7T>C rs2135328716
NM_000051.4(ATM):c.1607+7T>G
NM_000051.4(ATM):c.1607+8C>T rs2135328749
NM_000051.4(ATM):c.1607+9A>T rs1028538482
NM_000051.4(ATM):c.1608-13T>C
NM_000051.4(ATM):c.1608-16C>A
NM_000051.4(ATM):c.1608-16C>G rs2080161173
NM_000051.4(ATM):c.1608-18T>C
NM_000051.4(ATM):c.1608-19G>C
NM_000051.4(ATM):c.1608-20T>C
NM_000051.4(ATM):c.1608-4A>G rs2080162473
NM_000051.4(ATM):c.1608-7G>A rs1555071656
NM_000051.4(ATM):c.1608-7G>T rs1555071656
NM_000051.4(ATM):c.1611T>C (p.Pro537=) rs2135338657
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.1635A>G (p.Ala545=) rs1555071712
NM_000051.4(ATM):c.1636C>T (p.Leu546=) rs2227924
NM_000051.4(ATM):c.1653T>C (p.Val551=)
NM_000051.4(ATM):c.1662G>C (p.Thr554=) rs764646531
NM_000051.4(ATM):c.1680G>A (p.Glu560=) rs1555071815
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.1719G>A (p.Lys573=)
NM_000051.4(ATM):c.1722A>G (p.Glu574=) rs372334891
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.1743A>G (p.Leu581=)
NM_000051.4(ATM):c.1752G>A (p.Gln584=) rs2135343108
NM_000051.4(ATM):c.1761T>A (p.Gly587=)
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
NM_000051.4(ATM):c.1776C>T (p.Ser592=) rs1057524304
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.1788T>G (p.Pro596=)
NM_000051.4(ATM):c.1791A>G (p.Pro597=) rs2135344323
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+12T>G
NM_000051.4(ATM):c.1802+13C>T rs1555072105
NM_000051.4(ATM):c.1802+14A>G rs2135344920
NM_000051.4(ATM):c.1802+15T>C rs2135344940
NM_000051.4(ATM):c.1802+16T>C rs995327985
NM_000051.4(ATM):c.1802+16del rs1064794466
NM_000051.4(ATM):c.1802+18G>A
NM_000051.4(ATM):c.1802+18G>C rs1168327781
NM_000051.4(ATM):c.1802+19C>T
NM_000051.4(ATM):c.1802+20A>T rs1009750697
NM_000051.4(ATM):c.1802+8A>G rs766706104
NM_000051.4(ATM):c.1802+8A>T rs766706104
NM_000051.4(ATM):c.1802+9A>G rs2135344806
NM_000051.4(ATM):c.1803-10T>C rs1555072423
NM_000051.4(ATM):c.1803-15T>C rs2080225396
NM_000051.4(ATM):c.1803-18T>C
NM_000051.4(ATM):c.1803-20C>T
NM_000051.4(ATM):c.1803-4G>A rs876659300
NM_000051.4(ATM):c.1803-4G>T
NM_000051.4(ATM):c.1803-5T>C rs786203034
NM_000051.4(ATM):c.1803-7T>C rs2135352285
NM_000051.4(ATM):c.1803-9T>C rs2135352230
NM_000051.4(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.4(ATM):c.1818T>G (p.Leu606=) rs2080227232
NM_000051.4(ATM):c.1821A>C (p.Val607=) rs876660362
NM_000051.4(ATM):c.1821A>G (p.Val607=) rs876660362
NM_000051.4(ATM):c.1822C>T (p.Leu608=) rs1591530779
NM_000051.4(ATM):c.1827G>A (p.Glu609=) rs1555072460
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
NM_000051.4(ATM):c.1833T>A (p.Ile611=) rs2135353362
NM_000051.4(ATM):c.1833T>C (p.Ile611=)
NM_000051.4(ATM):c.1836T>A (p.Leu612=) rs1309539769
NM_000051.4(ATM):c.1839G>C (p.Val613=) rs2135353682
NM_000051.4(ATM):c.1845C>T (p.Leu615=) rs1349398596
NM_000051.4(ATM):c.1848T>C (p.Thr616=) rs1045549048
NM_000051.4(ATM):c.185+10T>G rs1555054317
NM_000051.4(ATM):c.185+14A>G rs2135015612
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.185+16T>G
NM_000051.4(ATM):c.185+18A>C
NM_000051.4(ATM):c.185+9T>G
NM_000051.4(ATM):c.186-10T>C rs773957101
NM_000051.4(ATM):c.186-11T>C
NM_000051.4(ATM):c.186-14T>A
NM_000051.4(ATM):c.186-18C>T rs1410616583
NM_000051.4(ATM):c.186-4G>C
NM_000051.4(ATM):c.186-6T>C rs2078881202
NM_000051.4(ATM):c.186-8del rs1555055031
NM_000051.4(ATM):c.1866T>C (p.Ala622=) rs2135354414
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.1890G>T (p.Val630=) rs1555072586
NM_000051.4(ATM):c.1896A>G (p.Glu632=) rs2135355169
NM_000051.4(ATM):c.1898+10C>G rs199570442
NM_000051.4(ATM):c.1898+16A>T
NM_000051.4(ATM):c.1898+18G>A rs2135355669
NM_000051.4(ATM):c.1898+19C>G
NM_000051.4(ATM):c.1898+19C>T
NM_000051.4(ATM):c.1898+20T>G
NM_000051.4(ATM):c.1898+8A>T
NM_000051.4(ATM):c.1899-10T>A
NM_000051.4(ATM):c.1899-11C>G rs730881282
NM_000051.4(ATM):c.1899-14T>C rs2135365137
NM_000051.4(ATM):c.1899-16T>A rs1352009139
NM_000051.4(ATM):c.1899-16T>C
NM_000051.4(ATM):c.1899-16_1899-15insA rs2135365068
NM_000051.4(ATM):c.1899-23_1899-19del rs2135364890
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.1899-7C>G
NM_000051.4(ATM):c.1899-7C>T rs1060501584
NM_000051.4(ATM):c.189T>C (p.Phe63=) rs926466183
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.1923A>G (p.Glu641=) rs2135366297
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1932A>G (p.Ser644=)
NM_000051.4(ATM):c.1935C>T (p.Phe645=) rs876659709
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.1956T>C (p.Phe652=)
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.1974C>T (p.Asp658=)
NM_000051.4(ATM):c.1977G>A (p.Lys659=) rs1060501565
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.1995T>A (p.Ile665=)
NM_000051.4(ATM):c.1995T>C (p.Ile665=) rs1555073271
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.2010T>C (p.Gly670=) rs2135368892
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.4(ATM):c.2034T>A (p.Ile678=) rs1013513956
NM_000051.4(ATM):c.2034T>C (p.Ile678=) rs1013513956
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2046C>G (p.Val682=) rs1591534664
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.2070G>A (p.Leu690=)
NM_000051.4(ATM):c.2088A>T (p.Gly696=) rs1555073469
NM_000051.4(ATM):c.2089T>C (p.Leu697=)
NM_000051.4(ATM):c.2091A>G (p.Leu697=) rs2135371070
NM_000051.4(ATM):c.2094A>C (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2094A>G (p.Ser698=) rs1344336370
NM_000051.4(ATM):c.2097A>G (p.Glu699=) rs777887012
NM_000051.4(ATM):c.2104C>T (p.Leu702=) rs1555073490
NM_000051.4(ATM):c.210A>G (p.Lys70=) rs1064793030
NM_000051.4(ATM):c.2112T>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2124+12T>A rs61278354
NM_000051.4(ATM):c.2124+15A>G
NM_000051.4(ATM):c.2124+16_2124+19del rs35211268
NM_000051.4(ATM):c.2124+20G>A
NM_000051.4(ATM):c.2124+9T>A rs1591535203
NM_000051.4(ATM):c.2125-12G>A rs2135391706
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2125-14T>C
NM_000051.4(ATM):c.2125-15G>T
NM_000051.4(ATM):c.2125-15_2125-9del rs2135391517
NM_000051.4(ATM):c.2125-16T>C rs1057523016
NM_000051.4(ATM):c.2125-17T>C rs1373576656
NM_000051.4(ATM):c.2125-18T>C
NM_000051.4(ATM):c.2125-19A>C rs2080469665
NM_000051.4(ATM):c.2125-19A>T rs2080469665
NM_000051.4(ATM):c.2125-4T>C rs1064795623
NM_000051.4(ATM):c.2125-4dup rs2135391852
NM_000051.4(ATM):c.2125-5T>C
NM_000051.4(ATM):c.2125-7C>A rs2135391832
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2125-9T>C rs2135391794
NM_000051.4(ATM):c.2130A>C (p.Thr710=)
NM_000051.4(ATM):c.2139A>G (p.Glu713=) rs2080473610
NM_000051.4(ATM):c.2145T>G (p.Leu715=) rs2080474170
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2157A>G (p.Ser719=) rs1591542014
NM_000051.4(ATM):c.2157A>T (p.Ser719=)
NM_000051.4(ATM):c.2163T>C (p.Leu721=) rs1591542057
NM_000051.4(ATM):c.2164T>C (p.Leu722=)
NM_000051.4(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.4(ATM):c.2172T>C (p.Gly724=) rs1591542120
NM_000051.4(ATM):c.2172T>G (p.Gly724=) rs1591542120
NM_000051.4(ATM):c.2178T>C (p.Leu726=) rs1591542185
NM_000051.4(ATM):c.2181C>G (p.Gly727=) rs876658836
NM_000051.4(ATM):c.2184C>T (p.Cys728=) rs1555074933
NM_000051.4(ATM):c.2190T>C (p.Cys730=) rs876659949
NM_000051.4(ATM):c.2199T>C (p.Gly733=) rs1591542359
NM_000051.4(ATM):c.2208T>G (p.Ala736=) rs761874856
NM_000051.4(ATM):c.2214G>A (p.Glu738=) rs1565395061
NM_000051.4(ATM):c.2220A>T (p.Ala740=) rs56353517
NM_000051.4(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.4(ATM):c.222T>C (p.Cys74=) rs1555055127
NM_000051.4(ATM):c.2232A>G (p.Glu744=) rs2080482588
NM_000051.4(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.4(ATM):c.2244A>G (p.Lys748=) rs1591542559
NM_000051.4(ATM):c.2247C>T (p.Ala749=)
NM_000051.4(ATM):c.2250+13A>G rs1290519111
NM_000051.4(ATM):c.2250+15A>C rs1057523706
NM_000051.4(ATM):c.2250+15A>G rs1057523706
NM_000051.4(ATM):c.2250+16C>G rs2135395339
NM_000051.4(ATM):c.2250+16C>T
NM_000051.4(ATM):c.2250+20T>A rs377570109
NM_000051.4(ATM):c.2250+7G>A rs752009031
NM_000051.4(ATM):c.2250+7G>T rs752009031
NM_000051.4(ATM):c.2250+8A>T rs1555075054
NM_000051.4(ATM):c.2250+9A>C rs755569951
NM_000051.4(ATM):c.2250+9A>G rs755569951
NM_000051.4(ATM):c.2251-12T>C
NM_000051.4(ATM):c.2251-13C>A
NM_000051.4(ATM):c.2251-13C>G
NM_000051.4(ATM):c.2251-13C>T
NM_000051.4(ATM):c.2251-14T>A rs751677125
NM_000051.4(ATM):c.2251-15T>C rs1565396892
NM_000051.4(ATM):c.2251-5A>C
NM_000051.4(ATM):c.2251-5A>T
NM_000051.4(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2268A>G (p.Ala756=) rs1057522845
NM_000051.4(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.4(ATM):c.2289T>C (p.Phe763=)
NM_000051.4(ATM):c.228A>G (p.Arg76=) rs1591451698
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.2304T>C (p.Asn768=) rs2135406753
NM_000051.4(ATM):c.2307G>A (p.Glu769=)
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.2334T>C (p.Asn778=) rs1555075758
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>G (p.Thr784=) rs759679953
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.2364C>G (p.Ser788Arg) rs2135408164
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.2376+11C>T
NM_000051.4(ATM):c.2376+14C>A rs2135408701
NM_000051.4(ATM):c.2376+16del rs779169817
NM_000051.4(ATM):c.2376+17C>G
NM_000051.4(ATM):c.2376+17_2376+18del
NM_000051.4(ATM):c.2376+18T>A
NM_000051.4(ATM):c.2376+18T>C rs1555075849
NM_000051.4(ATM):c.2376+20G>A rs140364468
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+5_2376+13dup
NM_000051.4(ATM):c.2376+7T>A
NM_000051.4(ATM):c.2376+7T>C
NM_000051.4(ATM):c.2376+7T>G rs2135408560
NM_000051.4(ATM):c.2376+8T>A rs2135408581
NM_000051.4(ATM):c.2376+8T>C
NM_000051.4(ATM):c.2376+8T>G rs2135408581
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2377-11C>A rs2080691297
NM_000051.4(ATM):c.2377-11C>G rs2080691297
NM_000051.4(ATM):c.2377-12T>C
NM_000051.4(ATM):c.2377-14del
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2377-16T>A rs1009142114
NM_000051.4(ATM):c.2377-20_2377-18del rs2080689774
NM_000051.4(ATM):c.2377-5T>C rs754206007
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2377-9T>A rs2080691443
NM_000051.4(ATM):c.237A>G (p.Lys79=) rs1160350816
NM_000051.4(ATM):c.2382T>C (p.Ser794=) rs1555076601
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.2397A>T (p.Ala799=) rs1060504279
NM_000051.4(ATM):c.2400T>A (p.Ser800=)
NM_000051.4(ATM):c.2403C>A (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2409C>T (p.Phe803=) rs1416444032
NM_000051.4(ATM):c.2410C>T (p.Leu804=) rs1591551341
NM_000051.4(ATM):c.2415A>G (p.Arg805=)
NM_000051.4(ATM):c.2416T>C (p.Leu806=) rs1591551376
NM_000051.4(ATM):c.2424A>C (p.Thr808=)
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.2431C>T (p.Leu811=) rs2135421739
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+10C>A rs759158068
NM_000051.4(ATM):c.2466+10C>T rs759158068
NM_000051.4(ATM):c.2466+13C>G
NM_000051.4(ATM):c.2466+16G>A rs2135422757
NM_000051.4(ATM):c.2466+19T>C
NM_000051.4(ATM):c.2466+20T>C
NM_000051.4(ATM):c.2466+7A>T rs55812024
NM_000051.4(ATM):c.2466+8T>A rs765619483
NM_000051.4(ATM):c.2466+8T>C rs765619483
NM_000051.4(ATM):c.2466+9G>A
NM_000051.4(ATM):c.2466+9G>T rs2135422617
NM_000051.4(ATM):c.2466+9dup
NM_000051.4(ATM):c.2467-11C>G
NM_000051.4(ATM):c.2467-11C>T rs1267435091
NM_000051.4(ATM):c.2467-12T>C rs1469467036
NM_000051.4(ATM):c.2467-13C>G
NM_000051.4(ATM):c.2467-17G>A
NM_000051.4(ATM):c.2467-17_2467-14del
NM_000051.4(ATM):c.2467-19T>G rs2135504690
NM_000051.4(ATM):c.2467-20T>G
NM_000051.4(ATM):c.2467-4G>A rs1555082048
NM_000051.4(ATM):c.2467-4G>T rs1555082048
NM_000051.4(ATM):c.2467-7dup rs762495417
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2467-8C>T rs1425701157
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
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.2484G>A (p.Lys828=)
NM_000051.4(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.4(ATM):c.2493C>T (p.Asp831=) rs2135505712
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.2502A>G (p.Glu834=) rs1591587377
NM_000051.4(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.4(ATM):c.2508A>G (p.Glu836=) rs2135506209
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
NM_000051.4(ATM):c.2520T>C (p.Asp840=) rs1591587498
NM_000051.4(ATM):c.2523T>C (p.Asp841=) rs758234872
NM_000051.4(ATM):c.2526T>A (p.Thr842=)
NM_000051.4(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.4(ATM):c.252C>T (p.Ala84=)
NM_000051.4(ATM):c.2538A>C (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2538A>G (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2544G>A (p.Glu848=) rs1060501601
NM_000051.4(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.4(ATM):c.2556G>A (p.Gln852=) rs2081307368
NM_000051.4(ATM):c.2559A>G (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.2559A>T (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.255A>C (p.Ser85=)
NM_000051.4(ATM):c.255A>G (p.Ser85=) rs2135035403
NM_000051.4(ATM):c.2562C>T (p.Ser854=)
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>G (p.Thr86=) rs777434093
NM_000051.4(ATM):c.2622G>A (p.Glu874=) rs2135509315
NM_000051.4(ATM):c.2625C>T (p.Ser875=) rs1591588785
NM_000051.4(ATM):c.2628A>G (p.Gln876=) rs1339119718
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+15A>C
NM_000051.4(ATM):c.2638+15A>G
NM_000051.4(ATM):c.2638+16C>A rs1386019726
NM_000051.4(ATM):c.2638+18A>G rs1057521739
NM_000051.4(ATM):c.2638+18A>T rs1057521739
NM_000051.4(ATM):c.2638+19C>A rs1439350674
NM_000051.4(ATM):c.2638+19C>G
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2638+9A>C rs761592414
NM_000051.4(ATM):c.2638+9A>T rs761592414
NM_000051.4(ATM):c.2639-13T>C
NM_000051.4(ATM):c.2639-15G>A rs757723219
NM_000051.4(ATM):c.2639-15G>T
NM_000051.4(ATM):c.2639-17G>A
NM_000051.4(ATM):c.2639-20T>A
NM_000051.4(ATM):c.2639-20T>C rs2135522472
NM_000051.4(ATM):c.2639-20T>G
NM_000051.4(ATM):c.2639-382_2639-377del rs1397425268
NM_000051.4(ATM):c.2639-384A>T rs1131691154
NM_000051.4(ATM):c.2639-386_2639-381del
NM_000051.4(ATM):c.2639-8A>G rs779419160
NM_000051.4(ATM):c.2639-8del rs2135522747
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
NM_000051.4(ATM):c.2646T>A (p.Ile882=) rs1591593585
NM_000051.4(ATM):c.2646T>C (p.Ile882=) rs1591593585
NM_000051.4(ATM):c.264C>T (p.Ala88=) rs1555055190
NM_000051.4(ATM):c.2658T>C (p.Ala886=) rs1591593665
NM_000051.4(ATM):c.2664A>G (p.Glu888=) rs2135523410
NM_000051.4(ATM):c.2667T>C (p.Tyr889=) rs2081381578
NM_000051.4(ATM):c.2668C>T (p.Leu890=)
NM_000051.4(ATM):c.2676G>A (p.Lys892=) rs1555083128
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.267C>T (p.Ser89=) rs1555055198
NM_000051.4(ATM):c.2683C>T (p.Leu895=)
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.2706G>A (p.Lys902=) rs2135524458
NM_000051.4(ATM):c.2709C>T (p.Phe903=) rs2135524508
NM_000051.4(ATM):c.270G>A (p.Arg90=) rs1313014736
NM_000051.4(ATM):c.2721T>C (p.Cys907=)
NM_000051.4(ATM):c.2724A>G (p.Val908=)
NM_000051.4(ATM):c.2724A>T (p.Val908=) rs1555083247
NM_000051.4(ATM):c.2727T>C (p.Thr909=)
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>C (p.Thr915=) rs2135525290
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
NM_000051.4(ATM):c.2748G>A (p.Val916=) rs1050470790
NM_000051.4(ATM):c.2751C>A (p.Ser917=)
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.2757G>A (p.Arg919=)
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.2766T>C (p.Asp922=) rs2135525790
NM_000051.4(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.4(ATM):c.2772G>A (p.Arg924=)
NM_000051.4(ATM):c.2772G>C (p.Arg924=) rs777541280
NM_000051.4(ATM):c.2779T>C (p.Leu927=) rs2135526043
NM_000051.4(ATM):c.2781G>A (p.Leu927=) rs770565353
NM_000051.4(ATM):c.2784A>G (p.Leu928=)
NM_000051.4(ATM):c.2788T>C (p.Leu930=) rs2135526232
NM_000051.4(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806C>T (p.Leu936=) rs1422401186
NM_000051.4(ATM):c.2808A>G (p.Leu936=) rs547791214
NM_000051.4(ATM):c.2817C>G (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2817C>T (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.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.2838+10G>A rs1555083482
NM_000051.4(ATM):c.2838+12T>A
NM_000051.4(ATM):c.2838+12T>C
NM_000051.4(ATM):c.2838+16T>C
NM_000051.4(ATM):c.2838+17G>C
NM_000051.4(ATM):c.2838+17G>T
NM_000051.4(ATM):c.2838+8A>G rs1295524564
NM_000051.4(ATM):c.2838+9C>A rs370160823
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2839-11T>A rs1429589119
NM_000051.4(ATM):c.2839-11T>C
NM_000051.4(ATM):c.2839-12C>G
NM_000051.4(ATM):c.2839-13C>T
NM_000051.4(ATM):c.2839-14T>C
NM_000051.4(ATM):c.2839-15C>T rs2081545815
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-577G>A rs2135541900
NM_000051.4(ATM):c.2839-577G>C rs2135541900
NM_000051.4(ATM):c.2839-578A>G rs2135541882
NM_000051.4(ATM):c.2839-581G>A rs2135541843
NM_000051.4(ATM):c.2839-5C>A rs876660205
NM_000051.4(ATM):c.2839-5C>G
NM_000051.4(ATM):c.2839-6T>C rs1338486619
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.2839-8C>A rs1555084596
NM_000051.4(ATM):c.2839-8C>T rs1555084596
NM_000051.4(ATM):c.2839-9C>T
NM_000051.4(ATM):c.2841T>C (p.Tyr947=) rs1167845678
NM_000051.4(ATM):c.2842C>T (p.Leu948=) rs1591602173
NM_000051.4(ATM):c.2844A>C (p.Leu948=)
NM_000051.4(ATM):c.2844A>G (p.Leu948=) rs1555084628
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.2871A>G (p.Glu957=) rs863224291
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2874G>A (p.Glu958=) rs1555084671
NM_000051.4(ATM):c.2877C>T (p.Tyr959=) rs1057517253
NM_000051.4(ATM):c.2880C>T (p.Pro960=) rs1591602430
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
NM_000051.4(ATM):c.288A>G (p.Glu96=) rs1226812648
NM_000051.4(ATM):c.2895T>C (p.Asp965=) rs1424320755
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.2913A>G (p.Lys971=) rs1057522291
NM_000051.4(ATM):c.2916A>T (p.Pro972=) rs2081553201
NM_000051.4(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.4(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.4(ATM):c.2921+10T>G rs1060504278
NM_000051.4(ATM):c.2921+11A>G rs1565424678
NM_000051.4(ATM):c.2921+15C>T rs1057521619
NM_000051.4(ATM):c.2921+16C>T rs558376224
NM_000051.4(ATM):c.2921+18T>C rs1565424709
NM_000051.4(ATM):c.2921+19A>G
NM_000051.4(ATM):c.2921+19_2921+20del rs2135549382
NM_000051.4(ATM):c.2921+20T>A
NM_000051.4(ATM):c.2921+20T>C rs2081555059
NM_000051.4(ATM):c.2921+24_2921+28del rs780315379
NM_000051.4(ATM):c.2922-10T>C rs2081563514
NM_000051.4(ATM):c.2922-10T>G rs2081563514
NM_000051.4(ATM):c.2922-13T>C rs1565424946
NM_000051.4(ATM):c.2922-14T>C rs761100734
NM_000051.4(ATM):c.2922-18T>C
NM_000051.4(ATM):c.2922-4A>G rs1555084924
NM_000051.4(ATM):c.2922-5C>T rs1452462211
NM_000051.4(ATM):c.2922-7A>G
NM_000051.4(ATM):c.2922-7A>T rs1292971489
NM_000051.4(ATM):c.2922-7dup rs932219783
NM_000051.4(ATM):c.2922-9T>C rs2135551080
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.2928G>A (p.Val976=) rs1591603577
NM_000051.4(ATM):c.2937G>A (p.Leu979=) rs1166904824
NM_000051.4(ATM):c.2943T>C (p.Arg981=)
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2946T>C (p.Arg982=)
NM_000051.4(ATM):c.2949C>T (p.Asp983=) rs1555085022
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.2955T>C (p.Asp985=) rs1555085034
NM_000051.4(ATM):c.2967T>G (p.Thr989=) rs144145128
NM_000051.4(ATM):c.2982C>T (p.Val994=) rs200541844
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.2991A>G (p.Val997=) rs1203368496
NM_000051.4(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.4(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.4(ATM):c.3006T>C (p.Gly1002=)
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.3015T>C (p.Asn1005=)
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.3034A>C (p.Arg1012=) rs752615128
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)
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.3045A>G (p.Gln1015=) rs1064796404
NM_000051.4(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
NM_000051.4(ATM):c.3063A>G (p.Val1021=) rs1591604752
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
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+11T>G
NM_000051.4(ATM):c.3077+12C>G rs2081578131
NM_000051.4(ATM):c.3077+13dup rs1555085272
NM_000051.4(ATM):c.3077+14A>G rs977758069
NM_000051.4(ATM):c.3077+14A>T
NM_000051.4(ATM):c.3077+15T>C rs1555085277
NM_000051.4(ATM):c.3077+21_3077+23del rs1243820894
NM_000051.4(ATM):c.3077+3A>G
NM_000051.4(ATM):c.3077+7A>C rs2081577708
NM_000051.4(ATM):c.3077+7A>G rs2081577708
NM_000051.4(ATM):c.3077+8C>A rs752601608
NM_000051.4(ATM):c.3077+8C>T rs752601608
NM_000051.4(ATM):c.3077+9A>T
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3078-12_3078-10del
NM_000051.4(ATM):c.3078-14T>C
NM_000051.4(ATM):c.3078-16A>C
NM_000051.4(ATM):c.3078-19A>C
NM_000051.4(ATM):c.3078-20G>A
NM_000051.4(ATM):c.3078-4T>A
NM_000051.4(ATM):c.3078-4T>G rs1591608166
NM_000051.4(ATM):c.3078-7A>G
NM_000051.4(ATM):c.3078-7A>T
NM_000051.4(ATM):c.3078-8G>C
NM_000051.4(ATM):c.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.3087A>C (p.Thr1029=) rs1555085787
NM_000051.4(ATM):c.3087A>G (p.Thr1029=) rs1555085787
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.30C>A (p.Ile10=) rs1591445856
NM_000051.4(ATM):c.30C>T (p.Ile10=) rs1591445856
NM_000051.4(ATM):c.3111T>C (p.Ser1037=) rs1591608393
NM_000051.4(ATM):c.3115A>C (p.Arg1039=) rs1060504309
NM_000051.4(ATM):c.3117A>G (p.Arg1039=) rs55784207
NM_000051.4(ATM):c.3129A>G (p.Val1043=)
NM_000051.4(ATM):c.312C>T (p.Phe104=) rs1060504310
NM_000051.4(ATM):c.3135C>T (p.Cys1045=) rs773577455
NM_000051.4(ATM):c.3138T>C (p.Leu1046=) rs3092858
NM_000051.4(ATM):c.3141A>G (p.Lys1047=)
NM_000051.4(ATM):c.3145T>C (p.Leu1049=) rs1591608635
NM_000051.4(ATM):c.3153+11G>C
NM_000051.4(ATM):c.3153+12C>T rs2135567275
NM_000051.4(ATM):c.3153+13A>G
NM_000051.4(ATM):c.3153+15T>G
NM_000051.4(ATM):c.3153+16T>G
NM_000051.4(ATM):c.3153+18T>G rs1555085921
NM_000051.4(ATM):c.3153+19T>G rs1565428143
NM_000051.4(ATM):c.3153+20T>A rs200786429
NM_000051.4(ATM):c.3153+7T>C rs2135567095
NM_000051.4(ATM):c.3153+7_3153+8insA rs878853500
NM_000051.4(ATM):c.3153+9T>C rs770464168
NM_000051.4(ATM):c.3154-10T>C rs2135569357
NM_000051.4(ATM):c.3154-12C>A
NM_000051.4(ATM):c.3154-12C>T
NM_000051.4(ATM):c.3154-16A>C
NM_000051.4(ATM):c.3154-18del
NM_000051.4(ATM):c.3154-19C>T
NM_000051.4(ATM):c.3154-20C>T rs1057522141
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3154-7C>T rs756615573
NM_000051.4(ATM):c.3154-9T>C rs2135569385
NM_000051.4(ATM):c.315C>T (p.Ile105=) rs1057522344
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr) rs775095314
NM_000051.4(ATM):c.3162T>A (p.Pro1054=)
NM_000051.4(ATM):c.3162T>G (p.Pro1054=) rs2081658300
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)
NM_000051.4(ATM):c.3177C>G (p.Ala1059=) rs1044910300
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)
NM_000051.4(ATM):c.319T>C (p.Cys107Arg) rs864622508
NM_000051.4(ATM):c.3201C>T (p.Asp1067=) rs1188674152
NM_000051.4(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.4(ATM):c.3207T>C (p.Pro1069=) rs878853502
NM_000051.4(ATM):c.3210A>T (p.Val1070=) rs1443665212
NM_000051.4(ATM):c.3213T>C (p.Asn1071=) rs786203221
NM_000051.4(ATM):c.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.3237T>G (p.Ala1079=)
NM_000051.4(ATM):c.3243T>C (p.Asn1081=) rs2135572258
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.3270A>G (p.Ala1090=) rs997005308
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.4(ATM):c.3276A>G (p.Ser1092=) rs2135573179
NM_000051.4(ATM):c.3279C>T (p.Ile1093=)
NM_000051.4(ATM):c.3284+10C>G rs2081674914
NM_000051.4(ATM):c.3284+11A>C rs1565429231
NM_000051.4(ATM):c.3284+12A>G
NM_000051.4(ATM):c.3284+19A>G rs2135573831
NM_000051.4(ATM):c.3284+19A>T
NM_000051.4(ATM):c.3284+20T>C rs1448789912
NM_000051.4(ATM):c.3284+6G>A
NM_000051.4(ATM):c.3284+7G>A rs371629629
NM_000051.4(ATM):c.3284+8G>A
NM_000051.4(ATM):c.3284+8dup rs886047611
NM_000051.4(ATM):c.3284+9T>C rs1555086278
NM_000051.4(ATM):c.3285-12G>A rs1057521452
NM_000051.4(ATM):c.3285-13_3285-9del rs2082112477
NM_000051.4(ATM):c.3285-13del rs1245305174
NM_000051.4(ATM):c.3285-14T>C rs2082112216
NM_000051.4(ATM):c.3285-16G>C
NM_000051.4(ATM):c.3285-27_3285-16del
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3285-7T>C rs913535107
NM_000051.4(ATM):c.3285-8G>A rs1469259085
NM_000051.4(ATM):c.3288G>A (p.Leu1096=) rs2135642354
NM_000051.4(ATM):c.3291C>T (p.Phe1097=)
NM_000051.4(ATM):c.3300G>T (p.Thr1100=) rs587780621
NM_000051.4(ATM):c.331+10G>C rs755557468
NM_000051.4(ATM):c.331+11T>C
NM_000051.4(ATM):c.331+12T>C rs2135039169
NM_000051.4(ATM):c.331+13A>G
NM_000051.4(ATM):c.331+17A>G
NM_000051.4(ATM):c.331+17A>T
NM_000051.4(ATM):c.331+18T>C
NM_000051.4(ATM):c.331+18T>G
NM_000051.4(ATM):c.331+19T>G
NM_000051.4(ATM):c.331+19_331+25del
NM_000051.4(ATM):c.331+20A>G
NM_000051.4(ATM):c.331+21_331+26del rs2078895533
NM_000051.4(ATM):c.331+8A>G rs878853503
NM_000051.4(ATM):c.3312T>C (p.Ser1104=)
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
NM_000051.4(ATM):c.3316A>C (p.Arg1106=) rs2135643101
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
NM_000051.4(ATM):c.332-11T>A
NM_000051.4(ATM):c.332-11T>C rs1565356404
NM_000051.4(ATM):c.332-15T>G
NM_000051.4(ATM):c.332-16G>C rs2135120413
NM_000051.4(ATM):c.332-16G>T
NM_000051.4(ATM):c.332-16_332-13del
NM_000051.4(ATM):c.332-20A>G rs1555058985
NM_000051.4(ATM):c.332-20A>T
NM_000051.4(ATM):c.332-20_332-17del rs898739905
NM_000051.4(ATM):c.332-4A>T rs2135120646
NM_000051.4(ATM):c.332-7G>A rs1591474291
NM_000051.4(ATM):c.332-7G>C rs1591474291
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.332-8T>C
NM_000051.4(ATM):c.3321A>G (p.Leu1107=)
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.4(ATM):c.3330A>C (p.Ala1110=) rs1009383081
NM_000051.4(ATM):c.3337T>C (p.Leu1113=)
NM_000051.4(ATM):c.3339G>A (p.Leu1113=) rs1591632173
NM_000051.4(ATM):c.333A>G (p.Arg111=) rs2135120788
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3366T>C (p.Asn1122=) rs2135644622
NM_000051.4(ATM):c.3369A>T (p.Ala1123=) rs587780543
NM_000051.4(ATM):c.336A>G (p.Ala112=) rs777759909
NM_000051.4(ATM):c.336A>T (p.Ala112=) rs777759909
NM_000051.4(ATM):c.3372C>T (p.Tyr1124=) rs587779833
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.339T>C (p.Pro113=) rs1555059023
NM_000051.4(ATM):c.3402+10A>G rs919002854
NM_000051.4(ATM):c.3402+13A>C rs2082125198
NM_000051.4(ATM):c.3402+13A>G
NM_000051.4(ATM):c.3402+16A>T
NM_000051.4(ATM):c.3402+17T>A
NM_000051.4(ATM):c.3402+18G>A rs752000273
NM_000051.4(ATM):c.3402+18G>C rs752000273
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-7T>C rs1335592958
NM_000051.4(ATM):c.3403-8T>C
NM_000051.4(ATM):c.3403-8_3403-4del rs1555091114
NM_000051.4(ATM):c.3403-9C>A rs375483605
NM_000051.4(ATM):c.3405C>G (p.Ser1135=)
NM_000051.4(ATM):c.3405C>T (p.Ser1135=) rs746829748
NM_000051.4(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.4(ATM):c.3420C>T (p.Asn1140=) rs1329688204
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)
NM_000051.4(ATM):c.342G>A (p.Arg114=) rs1555059036
NM_000051.4(ATM):c.3430T>C (p.Leu1144=) rs2135665912
NM_000051.4(ATM):c.3435T>C (p.Asp1145=) rs2082204446
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.3450A>G (p.Arg1150=) rs2135666527
NM_000051.4(ATM):c.345A>C (p.Leu115=)
NM_000051.4(ATM):c.345A>G (p.Leu115=) rs2079235213
NM_000051.4(ATM):c.3460T>C (p.Leu1154=) rs1591636498
NM_000051.4(ATM):c.3463C>T (p.Leu1155=) rs1555091217
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3480G>A (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3480G>T (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3484T>C (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.3501C>A (p.Ile1167=)
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.3513G>A (p.Gln1171=) rs757201878
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
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.3534A>G (p.Lys1178=)
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.3553T>C (p.Leu1185=)
NM_000051.4(ATM):c.3570G>A (p.Val1190=) rs1347241379
NM_000051.4(ATM):c.3576+10G>T
NM_000051.4(ATM):c.3576+12_3576+14del
NM_000051.4(ATM):c.3576+7A>G rs761486334
NM_000051.4(ATM):c.3576+8T>C rs1591637198
NM_000051.4(ATM):c.3577-10G>A rs1343046904
NM_000051.4(ATM):c.3577-10G>C
NM_000051.4(ATM):c.3577-11G>C rs2135685988
NM_000051.4(ATM):c.3577-13_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.3577-16T>A
NM_000051.4(ATM):c.3577-16T>G
NM_000051.4(ATM):c.3577-17del
NM_000051.4(ATM):c.3577-18A>G rs2135685737
NM_000051.4(ATM):c.3577-19G>A
NM_000051.4(ATM):c.3577-20T>G rs921452019
NM_000051.4(ATM):c.3577-4G>T rs2135686331
NM_000051.4(ATM):c.3577-5T>C rs1555092229
NM_000051.4(ATM):c.3577-6G>C
NM_000051.4(ATM):c.3577-8T>C rs1555092222
NM_000051.4(ATM):c.3577-9T>G
NM_000051.4(ATM):c.3579T>G (p.Val1193=) rs1555092241
NM_000051.4(ATM):c.3582A>G (p.Leu1194=) rs1591640938
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)
NM_000051.4(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.4(ATM):c.3597A>G (p.Glu1199=) rs2135687051
NM_000051.4(ATM):c.3600T>C (p.Thr1200=)
NM_000051.4(ATM):c.3603T>C (p.Phe1201=) rs1591641079
NM_000051.4(ATM):c.3606A>C (p.Gly1202=) rs1189826741
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.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.361T>C (p.Leu121=) rs587782178
NM_000051.4(ATM):c.3621A>G (p.Glu1207=) rs2135687824
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
NM_000051.4(ATM):c.3633A>G (p.Ala1211=) rs2135688329
NM_000051.4(ATM):c.3636T>C (p.Ser1212=) rs2135688431
NM_000051.4(ATM):c.3651G>C (p.Leu1217=)
NM_000051.4(ATM):c.3654T>A (p.Val1218=) rs2135688939
NM_000051.4(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.4(ATM):c.3666A>G (p.Leu1222=)
NM_000051.4(ATM):c.3669T>C (p.Asn1223=) rs1591641397
NM_000051.4(ATM):c.3678T>C (p.Asp1226=) rs1591641476
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.36C>T (p.Cys12=) rs2135005147
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>C (p.Ile1244=) rs2135690957
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+10T>C
NM_000051.4(ATM):c.3746+11A>G rs2082309757
NM_000051.4(ATM):c.3746+13A>G rs777055245
NM_000051.4(ATM):c.3746+15_3746+19del
NM_000051.4(ATM):c.3746+16A>G
NM_000051.4(ATM):c.3746+18A>G rs2082310429
NM_000051.4(ATM):c.3746+18A>T
NM_000051.4(ATM):c.3746+19T>A
NM_000051.4(ATM):c.3746+19T>C
NM_000051.4(ATM):c.3746+20A>G rs1555092607
NM_000051.4(ATM):c.3746+20_3746+21del rs2135691794
NM_000051.4(ATM):c.3746+7T>G
NM_000051.4(ATM):c.3746+8T>G
NM_000051.4(ATM):c.3746+9A>G
NM_000051.4(ATM):c.3747-10C>A
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-10C>T
NM_000051.4(ATM):c.3747-11T>C rs2135703873
NM_000051.4(ATM):c.3747-14T>G rs2082371250
NM_000051.4(ATM):c.3747-16A>T
NM_000051.4(ATM):c.3747-19T>C
NM_000051.4(ATM):c.3747-7T>C rs1057523136
NM_000051.4(ATM):c.3750T>C (p.Ser1250=) rs2135704195
NM_000051.4(ATM):c.3753T>C (p.Cys1251=) rs2135704274
NM_000051.4(ATM):c.3768T>A (p.Ile1256=) rs765538231
NM_000051.4(ATM):c.3771A>G (p.Pro1257=) rs1057523320
NM_000051.4(ATM):c.3771A>T (p.Pro1257=)
NM_000051.4(ATM):c.3775C>T (p.Leu1259=)
NM_000051.4(ATM):c.3780G>A (p.Val1260=) rs2135705020
NM_000051.4(ATM):c.3783T>C (p.Ile1261=) rs1005444925
NM_000051.4(ATM):c.3786A>G (p.Arg1262=) rs2135705167
NM_000051.4(ATM):c.3789T>C (p.Ser1263=)
NM_000051.4(ATM):c.3792T>C (p.His1264=) rs2135705306
NM_000051.4(ATM):c.3807G>A (p.Lys1269=) rs2135705663
NM_000051.4(ATM):c.3810C>A (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3810C>T (p.Ser1270=) rs2135705736
NM_000051.4(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.4(ATM):c.3816T>C (p.Ala1272=)
NM_000051.4(ATM):c.381A>C (p.Thr127=)
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)
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.3834C>T (p.Asp1278=)
NM_000051.4(ATM):c.3840A>G (p.Lys1280=) rs2135706465
NM_000051.4(ATM):c.3846T>C (p.Leu1282=) rs2135706640
NM_000051.4(ATM):c.3847C>T (p.Leu1283=)
NM_000051.4(ATM):c.3849A>G (p.Leu1283=) rs1591645848
NM_000051.4(ATM):c.384G>A (p.Val128=) rs1555059177
NM_000051.4(ATM):c.384G>C (p.Val128=) rs1555059177
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
NM_000051.4(ATM):c.3882T>C (p.Ile1294=) rs1167387894
NM_000051.4(ATM):c.3888T>C (p.Pro1296=) rs1555093582
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=) rs2135707669
NM_000051.4(ATM):c.3897C>A (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>G (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3909C>T (p.Thr1303=) rs1555093618
NM_000051.4(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.3933A>G (p.Gln1311=) rs1060504304
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)
NM_000051.4(ATM):c.3945T>A (p.Ala1315=) rs2135709163
NM_000051.4(ATM):c.3948C>T (p.Thr1316=) rs2135709208
NM_000051.4(ATM):c.3954C>T (p.Val1318=)
NM_000051.4(ATM):c.3960T>C (p.Asp1320=) rs995275833
NM_000051.4(ATM):c.3972T>C (p.Ser1324=)
NM_000051.4(ATM):c.3979T>C (p.Leu1327=) rs2135709876
NM_000051.4(ATM):c.3981A>G (p.Leu1327=)
NM_000051.4(ATM):c.3984G>A (p.Leu1328=) rs1591646593
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+12A>G rs1057520703
NM_000051.4(ATM):c.3993+12A>T
NM_000051.4(ATM):c.3993+19T>C
NM_000051.4(ATM):c.3993+20G>A
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3993+6G>C
NM_000051.4(ATM):c.3993+6G>T rs878853508
NM_000051.4(ATM):c.3993+9T>C rs2135710402
NM_000051.4(ATM):c.3994-10G>C rs186589241
NM_000051.4(ATM):c.3994-11T>G
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>A rs1057520398
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-14T>A
NM_000051.4(ATM):c.3994-14T>G rs1255634399
NM_000051.4(ATM):c.3994-15T>A rs2135734597
NM_000051.4(ATM):c.3994-16T>A
NM_000051.4(ATM):c.3994-18A>T
NM_000051.4(ATM):c.3994-4G>C rs1060504259
NM_000051.4(ATM):c.3994-8C>T rs2135734775
NM_000051.4(ATM):c.3994-9C>A rs767111803
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.3996T>C (p.Ile1332=) rs1180449859
NM_000051.4(ATM):c.3999T>C (p.Asp1333=) rs1591655534
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.4029T>C (p.Ile1343=) rs2135735847
NM_000051.4(ATM):c.402T>C (p.Gly134=)
NM_000051.4(ATM):c.402T>G (p.Gly134=) rs2135123141
NM_000051.4(ATM):c.4032G>A (p.Val1344=) rs769871715
NM_000051.4(ATM):c.4035G>A (p.Val1345=) rs2135735989
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>C (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.4062A>T (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)
NM_000051.4(ATM):c.4077C>G (p.Ala1359=) rs375606854
NM_000051.4(ATM):c.4083G>A (p.Gln1361=) rs863224570
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
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>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.4107A>G (p.Ser1369=) rs2135738048
NM_000051.4(ATM):c.4109+11T>G rs749158400
NM_000051.4(ATM):c.4109+13T>C rs2082569194
NM_000051.4(ATM):c.4109+17C>G
NM_000051.4(ATM):c.4109+19T>C
NM_000051.4(ATM):c.4109+20dup
NM_000051.4(ATM):c.4109+7A>G rs2135738309
NM_000051.4(ATM):c.4109+8C>A rs1591656404
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4109+9A>G rs730881289
NM_000051.4(ATM):c.4110-11A>G
NM_000051.4(ATM):c.4110-11A>T rs760715107
NM_000051.4(ATM):c.4110-12T>C rs2135749934
NM_000051.4(ATM):c.4110-14C>T
NM_000051.4(ATM):c.4110-16C>A rs2135749803
NM_000051.4(ATM):c.4110-4T>G rs777186156
NM_000051.4(ATM):c.4110-5G>C
NM_000051.4(ATM):c.4110-6T>C rs1060504277
NM_000051.4(ATM):c.4110-8T>C rs2135750082
NM_000051.4(ATM):c.4110-9C>T rs730881367
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.4128T>G (p.Pro1376=) rs2135750893
NM_000051.4(ATM):c.4131T>C (p.Asn1377=) rs2082639582
NM_000051.4(ATM):c.4134A>G (p.Pro1378=) rs1591660328
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)
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.4173C>G (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4173C>T (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.4185T>C (p.Asn1395=) rs2135752553
NM_000051.4(ATM):c.4188T>C (p.Cys1396=) rs1565455129
NM_000051.4(ATM):c.4197C>T (p.Thr1399=) rs2135752951
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
NM_000051.4(ATM):c.4206A>G (p.Lys1402=)
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.4227C>G (p.Ser1409=) rs1555097018
NM_000051.4(ATM):c.4227C>T (p.Ser1409=) rs1555097018
NM_000051.4(ATM):c.4236+10C>T rs2135754219
NM_000051.4(ATM):c.4236+13G>C rs2135754357
NM_000051.4(ATM):c.4236+15_4236+17del rs1064794349
NM_000051.4(ATM):c.4236+16G>A rs2135754395
NM_000051.4(ATM):c.4236+17A>T
NM_000051.4(ATM):c.4236+18G>A
NM_000051.4(ATM):c.4236+19T>G rs2082650329
NM_000051.4(ATM):c.4236+9A>G rs1591661022
NM_000051.4(ATM):c.4236+9dup rs2135754201
NM_000051.4(ATM):c.4237-10T>C rs1312684854
NM_000051.4(ATM):c.4237-12T>C
NM_000051.4(ATM):c.4237-13G>T
NM_000051.4(ATM):c.4237-13_4237-10del
NM_000051.4(ATM):c.4237-13_4237-12del rs1555097353
NM_000051.4(ATM):c.4237-14T>G
NM_000051.4(ATM):c.4237-16T>A
NM_000051.4(ATM):c.4237-16T>C
NM_000051.4(ATM):c.4237-18A>C rs756842639
NM_000051.4(ATM):c.4237-18_4237-17del
NM_000051.4(ATM):c.4237-19A>C rs753311330
NM_000051.4(ATM):c.4237-19A>G rs753311330
NM_000051.4(ATM):c.4237-20T>C rs2135758679
NM_000051.4(ATM):c.4237-20T>G
NM_000051.4(ATM):c.4237-7T>C rs1439775115
NM_000051.4(ATM):c.4237-8T>A
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.4242C>T (p.Ser1414=) rs2135759239
NM_000051.4(ATM):c.4248G>A (p.Gln1416=) rs1233637041
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)
NM_000051.4(ATM):c.4260T>C (p.Leu1420=) rs2135759675
NM_000051.4(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.4(ATM):c.4278A>G (p.Ala1426=) rs2135760176
NM_000051.4(ATM):c.4281T>C (p.Ala1427=) rs876659745
NM_000051.4(ATM):c.4290T>C (p.Asn1430=) rs1431970078
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.429C>T (p.Asn143=) rs1416280463
NM_000051.4(ATM):c.4302G>A (p.Lys1434=) rs876658751
NM_000051.4(ATM):c.4308C>T (p.His1436=) rs1591662977
NM_000051.4(ATM):c.4311A>G (p.Arg1437=) rs1555097507
NM_000051.4(ATM):c.4317T>G (p.Leu1439=) rs2135761736
NM_000051.4(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.4(ATM):c.4329C>T (p.His1443=)
NM_000051.4(ATM):c.432A>T (p.Ile144=)
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.4338T>A (p.Val1446=) rs2135762761
NM_000051.4(ATM):c.4347A>G (p.Leu1449=)
NM_000051.4(ATM):c.4350G>A (p.Leu1450=) rs1565456541
NM_000051.4(ATM):c.435A>C (p.Leu145=) rs775476710
NM_000051.4(ATM):c.435A>G (p.Leu145=) rs775476710
NM_000051.4(ATM):c.4362A>G (p.Lys1454=) rs148993589
NM_000051.4(ATM):c.4365T>C (p.Ser1455=)
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)
NM_000051.4(ATM):c.4371A>G (p.Leu1457=)
NM_000051.4(ATM):c.4386C>A (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4386C>G (p.Ala1462=)
NM_000051.4(ATM):c.4386C>T (p.Ala1462=) rs1433672958
NM_000051.4(ATM):c.4389T>C (p.Phe1463=) rs1555097753
NM_000051.4(ATM):c.438C>G (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.438C>T (p.Leu146=) rs1591475272
NM_000051.4(ATM):c.4396C>A (p.Arg1466=) rs730881369
NM_000051.4(ATM):c.4398A>T (p.Arg1466=) rs142728382
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.4413T>G (p.Thr1471=) rs2135766153
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.4(ATM):c.441A>G (p.Lys147=) rs1555059372
NM_000051.4(ATM):c.4422C>T (p.His1474=) rs1555097849
NM_000051.4(ATM):c.4425T>C (p.Tyr1475=) rs2135766671
NM_000051.4(ATM):c.4431C>T (p.Asn1477=) rs571989748
NM_000051.4(ATM):c.4434A>G (p.Gln1478=) rs2082686560
NM_000051.4(ATM):c.4434A>T (p.Gln1478His) rs2082686560
NM_000051.4(ATM):c.4436+10A>T
NM_000051.4(ATM):c.4436+12A>G rs1057521715
NM_000051.4(ATM):c.4436+13T>C rs1555097905
NM_000051.4(ATM):c.4436+14T>G rs762832046
NM_000051.4(ATM):c.4436+15T>C
NM_000051.4(ATM):c.4436+16A>G
NM_000051.4(ATM):c.4436+17G>C
NM_000051.4(ATM):c.4436+18A>T rs1317954521
NM_000051.4(ATM):c.4436+19C>G rs539302674
NM_000051.4(ATM):c.4436+19C>T rs539302674
NM_000051.4(ATM):c.4436+5A>G rs2082687178
NM_000051.4(ATM):c.4436+7A>G rs749971237
NM_000051.4(ATM):c.4436+9C>T rs1565457090
NM_000051.4(ATM):c.4437-10C>A rs1397770130
NM_000051.4(ATM):c.4437-10C>T rs1397770130
NM_000051.4(ATM):c.4437-13C>T rs769462032
NM_000051.4(ATM):c.4437-15T>G
NM_000051.4(ATM):c.4437-5A>G rs876658290
NM_000051.4(ATM):c.4437-7A>C rs370354306
NM_000051.4(ATM):c.4437-7dup rs1565460797
NM_000051.4(ATM):c.4437G>A (p.Arg1479=) rs1591673584
NM_000051.4(ATM):c.4443T>C (p.Ser1481=) rs2135797265
NM_000051.4(ATM):c.4443T>G (p.Ser1481=)
NM_000051.4(ATM):c.4446T>C (p.Cys1482=)
NM_000051.4(ATM):c.4449C>A (p.Ile1483=)
NM_000051.4(ATM):c.444C>T (p.Asp148=)
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)
NM_000051.4(ATM):c.4458G>A (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4458G>T (p.Val1486=) rs1591673788
NM_000051.4(ATM):c.4461A>G (p.Ser1487=) rs2082859007
NM_000051.4(ATM):c.4462T>C (p.Leu1488=) rs1591673809
NM_000051.4(ATM):c.4470C>T (p.Ser1490=) rs2135798259
NM_000051.4(ATM):c.4485T>C (p.Cys1495=) rs2135798721
NM_000051.4(ATM):c.4488C>T (p.Asp1496=) rs772833802
NM_000051.4(ATM):c.4489T>C (p.Leu1497=)
NM_000051.4(ATM):c.4491A>G (p.Leu1497=) rs878853511
NM_000051.4(ATM):c.4506C>T (p.Cys1502=) rs876659908
NM_000051.4(ATM):c.4515C>G (p.Ala1505=) rs540798997
NM_000051.4(ATM):c.4518G>C (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.4518G>T (p.Val1506=) rs1057524110
NM_000051.4(ATM):c.4521T>C (p.Thr1507=)
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.453T>C (p.Ser151=) rs2135125035
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.4557T>A (p.Val1519=) rs2135801173
NM_000051.4(ATM):c.4560T>C (p.Ile1520=) rs1057520925
NM_000051.4(ATM):c.4569A>C (p.Thr1523=) rs1555099963
NM_000051.4(ATM):c.4578C>A (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.4584G>A (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4584G>T (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4590G>A (p.Glu1530=)
NM_000051.4(ATM):c.4593G>A (p.Gln1531=) rs1591674814
NM_000051.4(ATM):c.4599G>A (p.Glu1533=) rs1274454004
NM_000051.4(ATM):c.459A>G (p.Arg153=) rs2135125274
NM_000051.4(ATM):c.4605G>A (p.Gln1535=)
NM_000051.4(ATM):c.4611+10T>A
NM_000051.4(ATM):c.4611+11G>T rs2135803264
NM_000051.4(ATM):c.4611+12A>G rs1057520230
NM_000051.4(ATM):c.4611+12A>T
NM_000051.4(ATM):c.4611+14T>C
NM_000051.4(ATM):c.4611+14T>G rs1270804277
NM_000051.4(ATM):c.4611+15C>G
NM_000051.4(ATM):c.4611+15C>T
NM_000051.4(ATM):c.4611+16A>G rs2082875990
NM_000051.4(ATM):c.4611+17T>A
NM_000051.4(ATM):c.4611+17T>C rs768500911
NM_000051.4(ATM):c.4611+18C>G
NM_000051.4(ATM):c.4611+18C>T rs1057522843
NM_000051.4(ATM):c.4611+8T>C rs1057522426
NM_000051.4(ATM):c.4611+8T>G rs1057522426
NM_000051.4(ATM):c.4612-10T>C rs2135809073
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-14T>C
NM_000051.4(ATM):c.4612-18T>C
NM_000051.4(ATM):c.4612-19C>A rs1336477936
NM_000051.4(ATM):c.4612-4T>A rs569983068
NM_000051.4(ATM):c.4612-5T>C
NM_000051.4(ATM):c.4612-6A>G rs2135809248
NM_000051.4(ATM):c.4612-8A>G rs1555100341
NM_000051.4(ATM):c.4612-9T>C
NM_000051.4(ATM):c.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.4632C>T (p.Tyr1544=) rs2135810212
NM_000051.4(ATM):c.4635A>G (p.Leu1545=) rs2135810263
NM_000051.4(ATM):c.4647C>T (p.Asn1549=) rs1300874775
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.4665C>G (p.Leu1555=) rs374431061
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.4(ATM):c.4671C>A (p.Ile1557=) rs966733287
NM_000051.4(ATM):c.4677T>C (p.Ile1559=) rs759660081
NM_000051.4(ATM):c.4680G>A (p.Lys1560=) rs2135811674
NM_000051.4(ATM):c.4683T>C (p.Leu1561=) rs2135811760
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)
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.4707T>G (p.Val1569=) rs1591677478
NM_000051.4(ATM):c.471T>C (p.Cys157=)
NM_000051.4(ATM):c.4728T>C (p.Ile1576=)
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4731T>G (p.Thr1577=)
NM_000051.4(ATM):c.4740A>G (p.Lys1580=) rs2082923397
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.4758A>T (p.Gly1586=) rs2135813614
NM_000051.4(ATM):c.4761C>G (p.Pro1587=) rs769562370
NM_000051.4(ATM):c.4767A>G (p.Ser1589=) rs1591677805
NM_000051.4(ATM):c.4770C>A (p.Leu1590=) rs749475519
NM_000051.4(ATM):c.4776+10A>T rs2135814400
NM_000051.4(ATM):c.4776+10del rs878853512
NM_000051.4(ATM):c.4776+15A>G
NM_000051.4(ATM):c.4776+17C>T
NM_000051.4(ATM):c.4776+18_4776+20del
NM_000051.4(ATM):c.4776+20C>T
NM_000051.4(ATM):c.4776+23_4776+25del rs770860526
NM_000051.4(ATM):c.4776+7A>C rs2082927524
NM_000051.4(ATM):c.4776+9A>G rs2135814376
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4777-11T>G
NM_000051.4(ATM):c.4777-13_4777-10dup
NM_000051.4(ATM):c.4777-14A>G
NM_000051.4(ATM):c.4777-16A>G rs942981609
NM_000051.4(ATM):c.4777-7C>G rs1565465976
NM_000051.4(ATM):c.4777-7C>T rs1565465976
NM_000051.4(ATM):c.4777-9C>T rs1214975942
NM_000051.4(ATM):c.4794C>G (p.Leu1598=)
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
NM_000051.4(ATM):c.4797A>C (p.Ser1599=) rs1371876868
NM_000051.4(ATM):c.4803T>C (p.Ser1601=) rs964364958
NM_000051.4(ATM):c.480T>A (p.Ser160=) rs2135125892
NM_000051.4(ATM):c.480T>C (p.Ser160=) rs2135125892
NM_000051.4(ATM):c.4815A>C (p.Ala1605=) rs1591684513
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.4833T>A (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>C (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4833T>G (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.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.4848T>C (p.Asp1616=) rs2083040302
NM_000051.4(ATM):c.4854A>T (p.Arg1618=)
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>C (p.Leu1621=) rs2135836530
NM_000051.4(ATM):c.4866A>G (p.Glu1622=) rs2135836682
NM_000051.4(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.4869A>G (p.Leu1623=) rs767084038
NM_000051.4(ATM):c.486A>G (p.Gln162=)
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.4893T>A (p.Ile1631=) rs1591685188
NM_000051.4(ATM):c.4893T>C (p.Ile1631=)
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4902T>C (p.Ala1634=) rs2135838120
NM_000051.4(ATM):c.4909+10T>G rs2135838699
NM_000051.4(ATM):c.4909+11T>A
NM_000051.4(ATM):c.4909+11T>C
NM_000051.4(ATM):c.4909+14A>G
NM_000051.4(ATM):c.4909+14A>T
NM_000051.4(ATM):c.4909+15T>A
NM_000051.4(ATM):c.4909+17A>G rs550300834
NM_000051.4(ATM):c.4909+18C>T
NM_000051.4(ATM):c.4909+19A>G
NM_000051.4(ATM):c.4909+19A>T rs747032236
NM_000051.4(ATM):c.4909+20T>C rs1401279002
NM_000051.4(ATM):c.4909+6A>G rs2083048548
NM_000051.4(ATM):c.4909+7A>G rs2135838624
NM_000051.4(ATM):c.4909+8T>C
NM_000051.4(ATM):c.4909+9T>G rs1555101970
NM_000051.4(ATM):c.4910-10T>C rs2083173059
NM_000051.4(ATM):c.4910-14A>C
NM_000051.4(ATM):c.4910-17T>G rs1238547320
NM_000051.4(ATM):c.4910-7T>A rs3092872
NM_000051.4(ATM):c.4910-7T>C rs3092872
NM_000051.4(ATM):c.4910-8A>G rs1555103144
NM_000051.4(ATM):c.4910-9T>C
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>T (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4929T>A (p.Ile1643=) rs2135861750
NM_000051.4(ATM):c.4935G>A (p.Val1645=)
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.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+11A>C
NM_000051.4(ATM):c.496+11A>G
NM_000051.4(ATM):c.496+14G>C rs776887214
NM_000051.4(ATM):c.496+14GTT[2] rs1330640039
NM_000051.4(ATM):c.496+16T>C
NM_000051.4(ATM):c.496+17G>T
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.496+19T>G
NM_000051.4(ATM):c.496+20G>T rs751245102
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.496+7T>G rs2135126753
NM_000051.4(ATM):c.496+8T>C rs2135126803
NM_000051.4(ATM):c.496+9T>C
NM_000051.4(ATM):c.496+9T>G rs2135126833
NM_000051.4(ATM):c.4962A>G (p.Leu1654=) rs2135862796
NM_000051.4(ATM):c.4965C>T (p.Ser1655=) rs1555103252
NM_000051.4(ATM):c.497-2662AAG[3]
NM_000051.4(ATM):c.497-4T>G rs876659621
NM_000051.4(ATM):c.497-5T>C rs1591499452
NM_000051.4(ATM):c.497-7T>A
NM_000051.4(ATM):c.497-7T>C
NM_000051.4(ATM):c.497-7T>G
NM_000051.4(ATM):c.497-9T>G rs2079693632
NM_000051.4(ATM):c.4983C>T (p.His1661=) rs2083180642
NM_000051.4(ATM):c.4989T>G (p.Gly1663=) rs1591693006
NM_000051.4(ATM):c.498A>G (p.Glu166=) rs587779842
NM_000051.4(ATM):c.499T>C (p.Leu167=) rs2135221733
NM_000051.4(ATM):c.5005+10A>G rs2083183551
NM_000051.4(ATM):c.5005+12T>A rs2135864456
NM_000051.4(ATM):c.5005+14dup
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005+15T>C rs377355762
NM_000051.4(ATM):c.5005+17C>A rs200688912
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5005+19C>G rs1064794787
NM_000051.4(ATM):c.5005+19C>T
NM_000051.4(ATM):c.5005+20T>C
NM_000051.4(ATM):c.5005+20T>G
NM_000051.4(ATM):c.5006-10C>T rs2083315555
NM_000051.4(ATM):c.5006-12T>G rs2083315314
NM_000051.4(ATM):c.5006-14A>C rs2083314877
NM_000051.4(ATM):c.5006-14A>G
NM_000051.4(ATM):c.5006-17A>G
NM_000051.4(ATM):c.5006-17A>T
NM_000051.4(ATM):c.5006-19A>G
NM_000051.4(ATM):c.5006-4G>T
NM_000051.4(ATM):c.5006-5T>C
NM_000051.4(ATM):c.5006-6A>G rs1392301961
NM_000051.4(ATM):c.5006-8A>G rs1057520447
NM_000051.4(ATM):c.5010T>C (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.5010T>G (p.Ala1670=) rs1555104482
NM_000051.4(ATM):c.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>A (p.Val1678=)
NM_000051.4(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.4(ATM):c.5046T>C (p.Asp1682=) rs2135889217
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5064A>C (p.Ile1688=) rs1565473763
NM_000051.4(ATM):c.5067A>G (p.Gln1689=) rs1555104621
NM_000051.4(ATM):c.5082A>G (p.Ala1694=) rs778014234
NM_000051.4(ATM):c.5085T>G (p.Ser1695=) rs2135890366
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=) rs786203476
NM_000051.4(ATM):c.5091C>T (p.Thr1697=) rs1555104680
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
NM_000051.4(ATM):c.5097C>A (p.Ala1699=) rs2135890740
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)
NM_000051.4(ATM):c.5103G>A (p.Lys1701=)
NM_000051.4(ATM):c.5106A>G (p.Leu1702=) rs2083331055
NM_000051.4(ATM):c.510G>C (p.Val170=) rs375682557
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.5124T>G (p.Leu1708=) rs864622668
NM_000051.4(ATM):c.5133C>G (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5133C>T (p.Thr1711=) rs1357021067
NM_000051.4(ATM):c.5139A>C (p.Ile1713=) rs1233346885
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5145G>C (p.Leu1715=)
NM_000051.4(ATM):c.5145G>T (p.Leu1715=)
NM_000051.4(ATM):c.5154G>A (p.Leu1718=) rs1555104785
NM_000051.4(ATM):c.5163A>G (p.Thr1721=) rs1565474295
NM_000051.4(ATM):c.5169A>G (p.Val1723=) rs2135893173
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.5177+10_5177+13del
NM_000051.4(ATM):c.5177+14G>C rs2135893694
NM_000051.4(ATM):c.5177+15A>C
NM_000051.4(ATM):c.5177+16T>A rs2135893735
NM_000051.4(ATM):c.5177+17A>C
NM_000051.4(ATM):c.5177+19C>A
NM_000051.4(ATM):c.5177+20T>A
NM_000051.4(ATM):c.5177+20T>G
NM_000051.4(ATM):c.5177+7A>G rs2135893538
NM_000051.4(ATM):c.5177+9T>C rs767425639
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-11G>T rs200876654
NM_000051.4(ATM):c.5178-14del
NM_000051.4(ATM):c.5178-15A>C
NM_000051.4(ATM):c.5178-18T>C rs1057522381
NM_000051.4(ATM):c.5178-7T>C rs1555105564
NM_000051.4(ATM):c.5178-8T>G rs2135911389
NM_000051.4(ATM):c.5178-9T>A
NM_000051.4(ATM):c.5178-9T>C
NM_000051.4(ATM):c.5178-9T>G rs1555105562
NM_000051.4(ATM):c.517A>C (p.Arg173=) rs1591499740
NM_000051.4(ATM):c.5188C>A (p.Arg1730=) rs764389018
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.51T>C (p.His17=) rs1591446045
NM_000051.4(ATM):c.5205C>A (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5205C>G (p.Thr1735=) rs1060504283
NM_000051.4(ATM):c.5217C>T (p.Asn1739=) rs876658271
NM_000051.4(ATM):c.5220T>C (p.Ile1740=)
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.5232G>A (p.Lys1744=) rs2083440178
NM_000051.4(ATM):c.5235T>A (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>C (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5235T>G (p.Thr1745=) rs1591708727
NM_000051.4(ATM):c.5244T>C (p.Ser1748=) rs2083440966
NM_000051.4(ATM):c.5247C>T (p.Phe1749=) rs2083441197
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.5262G>A (p.Lys1754=) rs748900588
NM_000051.4(ATM):c.5268A>G (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.5268A>T (p.Thr1756=) rs1591708913
NM_000051.4(ATM):c.526C>T (p.Leu176=) rs375798802
NM_000051.4(ATM):c.5277A>T (p.Pro1759=) rs2135914528
NM_000051.4(ATM):c.5283G>C (p.Leu1761=)
NM_000051.4(ATM):c.5286C>T (p.Ala1762=)
NM_000051.4(ATM):c.5289T>C (p.Tyr1763=)
NM_000051.4(ATM):c.5292A>G (p.Leu1764=) rs786201703
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.5313A>G (p.Arg1771=) rs1591709164
NM_000051.4(ATM):c.5319+12_5319+55dup
NM_000051.4(ATM):c.5319+14T>C
NM_000051.4(ATM):c.5319+15A>C rs2135916591
NM_000051.4(ATM):c.5319+15A>G rs2135916591
NM_000051.4(ATM):c.5319+17A>G rs1331649240
NM_000051.4(ATM):c.5319+22del rs2135916722
NM_000051.4(ATM):c.5319+6_5319+7dup rs2083447804
NM_000051.4(ATM):c.5319+7T>C rs925428128
NM_000051.4(ATM):c.5319+9_5319+11delinsTTC rs2135916413
NM_000051.4(ATM):c.5320-10T>G
NM_000051.4(ATM):c.5320-11T>C
NM_000051.4(ATM):c.5320-12C>T
NM_000051.4(ATM):c.5320-13C>A
NM_000051.4(ATM):c.5320-13C>T rs1565478723
NM_000051.4(ATM):c.5320-14C>T rs182663175
NM_000051.4(ATM):c.5320-19del
NM_000051.4(ATM):c.5320-20T>C rs2135926264
NM_000051.4(ATM):c.5320-20T>G
NM_000051.4(ATM):c.5320-5T>C rs1555106308
NM_000051.4(ATM):c.5320-6_5320-3del rs864622386
NM_000051.4(ATM):c.5320-7T>G rs863224292
NM_000051.4(ATM):c.5328A>G (p.Glu1776=)
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.5354C>A (p.Pro1785His) rs1555106368
NM_000051.4(ATM):c.5358T>C (p.Phe1786=) rs876659725
NM_000051.4(ATM):c.5365C>T (p.Leu1789=) rs2135928017
NM_000051.4(ATM):c.5376A>T (p.Ile1792=) rs1287734608
NM_000051.4(ATM):c.5392C>T (p.Leu1798=) rs879254274
NM_000051.4(ATM):c.5394A>G (p.Leu1798=) rs2135928681
NM_000051.4(ATM):c.5406T>C (p.His1802=)
NM_000051.4(ATM):c.5409C>T (p.Asp1803=) rs1555106462
NM_000051.4(ATM):c.5430T>G (p.Thr1810=) rs1057522229
NM_000051.4(ATM):c.5436T>C (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5436T>G (p.Ala1812=) rs1555106502
NM_000051.4(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu) rs2083506323
NM_000051.4(ATM):c.5457A>G (p.Thr1819=) rs1555106535
NM_000051.4(ATM):c.546T>G (p.Val182=) rs2135223336
NM_000051.4(ATM):c.5472T>A (p.Leu1824=) rs2135930756
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5476T>C (p.Leu1826=) rs1555106563
NM_000051.4(ATM):c.5479T>C (p.Leu1827=) rs2135930931
NM_000051.4(ATM):c.5481A>G (p.Leu1827=) rs2135930953
NM_000051.4(ATM):c.5484G>A (p.Lys1828=)
NM_000051.4(ATM):c.5496+13A>G
NM_000051.4(ATM):c.5496+13_5496+16del rs1382076363
NM_000051.4(ATM):c.5496+14T>G rs1172938746
NM_000051.4(ATM):c.5496+15T>G
NM_000051.4(ATM):c.5496+18T>G rs2135931607
NM_000051.4(ATM):c.5496+19C>T
NM_000051.4(ATM):c.5496+645T>C
NM_000051.4(ATM):c.5496+7_5496+9del rs878853523
NM_000051.4(ATM):c.5497-11G>T rs2135942166
NM_000051.4(ATM):c.5497-12T>G
NM_000051.4(ATM):c.5497-12del
NM_000051.4(ATM):c.5497-13T>G
NM_000051.4(ATM):c.5497-13_5497-10del
NM_000051.4(ATM):c.5497-15G>A rs3092828
NM_000051.4(ATM):c.5497-18T>G rs2135942080
NM_000051.4(ATM):c.5497-19A>G rs1555107231
NM_000051.4(ATM):c.5497-20G>T
NM_000051.4(ATM):c.5497-4C>G rs1002998981
NM_000051.4(ATM):c.5497-7A>G rs2135942246
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.54T>C (p.Asp18=) rs786203926
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
NM_000051.4(ATM):c.5508C>T (p.Asp1836=) rs2135942603
NM_000051.4(ATM):c.5511T>C (p.Phe1837=)
NM_000051.4(ATM):c.5520T>C (p.Thr1840=) rs1591717575
NM_000051.4(ATM):c.5520T>G (p.Thr1840=)
NM_000051.4(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5523A>G (p.Val1841=) rs1060504268
NM_000051.4(ATM):c.5526T>A (p.Leu1842=) rs2135942991
NM_000051.4(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.4(ATM):c.5529A>T (p.Pro1843=)
NM_000051.4(ATM):c.552A>G (p.Arg184=) rs2135223587
NM_000051.4(ATM):c.5532C>T (p.Tyr1844=)
NM_000051.4(ATM):c.5541T>C (p.His1847=) rs1555107326
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe) rs200842502
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.5559T>C (p.Asp1853=) rs1555107393
NM_000051.4(ATM):c.5565T>C (p.Asn1855=) rs1565481888
NM_000051.4(ATM):c.556T>C (p.Leu186=) rs2079700064
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.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>G (p.Thr1864=) rs1426095621
NM_000051.4(ATM):c.5592A>T (p.Thr1864=) rs1426095621
NM_000051.4(ATM):c.5601G>A (p.Gln1867=) rs1555107464
NM_000051.4(ATM):c.5604A>C (p.Gly1868=)
NM_000051.4(ATM):c.5604A>G (p.Gly1868=)
NM_000051.4(ATM):c.5610C>T (p.Phe1870=) rs2083601271
NM_000051.4(ATM):c.5613C>G (p.Thr1871=) rs2083601650
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)
NM_000051.4(ATM):c.5622T>C (p.Leu1874=) rs2135945293
NM_000051.4(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.4(ATM):c.5628C>T (p.His1876=) rs1237700879
NM_000051.4(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.4(ATM):c.5640G>T (p.Thr1880=) rs757103582
NM_000051.4(ATM):c.5644C>A (p.Arg1882=) rs786204433
NM_000051.4(ATM):c.564T>C (p.Ala188=) rs2135224096
NM_000051.4(ATM):c.5652A>G (p.Thr1884=) rs1591718571
NM_000051.4(ATM):c.5655C>A (p.Thr1885=)
NM_000051.4(ATM):c.5655C>G (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.5655C>T (p.Thr1885=) rs1555107577
NM_000051.4(ATM):c.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+11A>T
NM_000051.4(ATM):c.5674+13A>G rs1555107618
NM_000051.4(ATM):c.5674+14T>A rs2083608444
NM_000051.4(ATM):c.5674+14T>C rs2083608444
NM_000051.4(ATM):c.5674+19A>C rs2135946949
NM_000051.4(ATM):c.5674+19A>G
NM_000051.4(ATM):c.5674+20A>G
NM_000051.4(ATM):c.5674+7T>A rs1591718715
NM_000051.4(ATM):c.5674+7T>C
NM_000051.4(ATM):c.5674+8A>C rs1033110152
NM_000051.4(ATM):c.5674+8A>G rs1033110152
NM_000051.4(ATM):c.5674+9T>C
NM_000051.4(ATM):c.5675-10T>C
NM_000051.4(ATM):c.5675-11T>C
NM_000051.4(ATM):c.5675-15A>G rs1565485867
NM_000051.4(ATM):c.5675-16T>A
NM_000051.4(ATM):c.5675-17A>C
NM_000051.4(ATM):c.5675-17A>G
NM_000051.4(ATM):c.5675-19A>G
NM_000051.4(ATM):c.5675-5G>C rs1591731701
NM_000051.4(ATM):c.567A>G (p.Arg189=) rs1555066398
NM_000051.4(ATM):c.5682G>A (p.Glu1894=) rs2135975851
NM_000051.4(ATM):c.5685C>T (p.His1895=) rs889445709
NM_000051.4(ATM):c.5691C>T (p.Phe1897=) rs1555109057
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.5709A>G (p.Lys1903=) rs2135976714
NM_000051.4(ATM):c.5712A>G (p.Lys1904=) rs864622127
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5724A>C (p.Thr1908=)
NM_000051.4(ATM):c.5724A>G (p.Thr1908=) rs2135977142
NM_000051.4(ATM):c.5736T>C (p.Val1912=) rs1060504302
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)
NM_000051.4(ATM):c.5757A>G (p.Gln1919=) rs1555109182
NM_000051.4(ATM):c.5762+10T>C rs1276744102
NM_000051.4(ATM):c.5762+11G>A
NM_000051.4(ATM):c.5762+11G>C rs2135978459
NM_000051.4(ATM):c.5762+12A>C rs2135978517
NM_000051.4(ATM):c.5762+13G>A
NM_000051.4(ATM):c.5762+16T>C
NM_000051.4(ATM):c.5762+18G>A
NM_000051.4(ATM):c.5762+20T>C rs2135978759
NM_000051.4(ATM):c.5762+21del
NM_000051.4(ATM):c.5762+7_5762+11del
NM_000051.4(ATM):c.5762+9A>G rs1565486371
NM_000051.4(ATM):c.5763-1048_5763-1036del
NM_000051.4(ATM):c.5763-1056G>C
NM_000051.4(ATM):c.5763-11T>C rs1057520675
NM_000051.4(ATM):c.5763-12A>G rs1057523388
NM_000051.4(ATM):c.5763-13C>T rs1057522554
NM_000051.4(ATM):c.5763-14_5763-13del rs1064794707
NM_000051.4(ATM):c.5763-15C>G
NM_000051.4(ATM):c.5763-17_5763-16del rs1064793040
NM_000051.4(ATM):c.5763-20T>G
NM_000051.4(ATM):c.5763-20_5763-18del rs777468149
NM_000051.4(ATM):c.5763-3T>C
NM_000051.4(ATM):c.5763-5T>C rs1555110219
NM_000051.4(ATM):c.5763-7T>C rs1555110216
NM_000051.4(ATM):c.5763-7T>G
NM_000051.4(ATM):c.5763-8T>G rs2136010657
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5766T>C (p.Pro1922=) rs2084022090
NM_000051.4(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)
NM_000051.4(ATM):c.5784T>C (p.Phe1928=) rs1290871799
NM_000051.4(ATM):c.5787T>C (p.Asn1929=) rs1057520448
NM_000051.4(ATM):c.5790T>C (p.Asp1930=) rs1555110279
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)
NM_000051.4(ATM):c.5815C>T (p.Leu1939=) rs2136014129
NM_000051.4(ATM):c.5820A>G (p.Glu1940=) rs2084028240
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)
NM_000051.4(ATM):c.5832A>G (p.Val1944=)
NM_000051.4(ATM):c.5844T>C (p.Cys1948=) rs776150043
NM_000051.4(ATM):c.5856T>C (p.Phe1952=) rs864622297
NM_000051.4(ATM):c.5859A>G (p.Thr1953=) rs1555110429
NM_000051.4(ATM):c.585C>G (p.Thr195=) rs2135224869
NM_000051.4(ATM):c.585C>T (p.Thr195=)
NM_000051.4(ATM):c.5865A>G (p.Leu1955=) rs1555110432
NM_000051.4(ATM):c.5868C>G (p.Leu1956=) rs540054724
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=) rs2136017191
NM_000051.4(ATM):c.5874A>G (p.Ala1958=) rs1591746375
NM_000051.4(ATM):c.5889T>C (p.Asp1963=) rs1555110490
NM_000051.4(ATM):c.5895A>G (p.Lys1965=) rs1565490147
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)
NM_000051.4(ATM):c.5916A>G (p.Lys1972=) rs2136019609
NM_000051.4(ATM):c.5918+12T>C rs2084042843
NM_000051.4(ATM):c.5918+13A>C
NM_000051.4(ATM):c.5918+14G>T rs2136020496
NM_000051.4(ATM):c.5918+16A>C
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.5918+17T>G rs2136020727
NM_000051.4(ATM):c.5918+18T>G
NM_000051.4(ATM):c.5918+7G>C rs1423323603
NM_000051.4(ATM):c.5918+7del rs2136020073
NM_000051.4(ATM):c.5918+8A>C rs1401825950
NM_000051.4(ATM):c.5918+8A>G
NM_000051.4(ATM):c.5918+8A>T
NM_000051.4(ATM):c.5919-11G>A rs1555111746
NM_000051.4(ATM):c.5919-11G>C
NM_000051.4(ATM):c.5919-13T>C rs1555111740
NM_000051.4(ATM):c.5919-18_5919-15dup rs2136057696
NM_000051.4(ATM):c.5919-20G>A
NM_000051.4(ATM):c.5919-49C>T rs2084236076
NM_000051.4(ATM):c.5919-7_5919-6insCTGT rs1239985928
NM_000051.4(ATM):c.591A>G (p.Gly197=) rs587780630
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
NM_000051.4(ATM):c.5943C>T (p.Ser1981=) rs769252226
NM_000051.4(ATM):c.5946G>A (p.Gln1982=) rs1591758349
NM_000051.4(ATM):c.594C>T (p.Cys198=) rs1591500282
NM_000051.4(ATM):c.5952A>G (p.Thr1984=)
NM_000051.4(ATM):c.5955T>C (p.Thr1985=) rs1555111801
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val) rs876660935
NM_000051.4(ATM):c.5958T>A (p.Ile1986=) rs2136060867
NM_000051.4(ATM):c.5961T>C (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5967G>A (p.Leu1989=) rs1555111833
NM_000051.4(ATM):c.5979T>C (p.Ser1993=) rs1591758734
NM_000051.4(ATM):c.597T>C (p.Cys199=) rs1565369633
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
NM_000051.4(ATM):c.5985A>G (p.Glu1995=) rs2084252730
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)
NM_000051.4(ATM):c.6003A>G (p.Leu2001=) rs1057523413
NM_000051.4(ATM):c.6006+10A>G rs2136063971
NM_000051.4(ATM):c.6006+11G>C rs1466545116
NM_000051.4(ATM):c.6006+17C>T
NM_000051.4(ATM):c.6006+19A>G
NM_000051.4(ATM):c.6006+20T>G
NM_000051.4(ATM):c.6006+7A>G rs1060504289
NM_000051.4(ATM):c.6007-10A>T rs373395916
NM_000051.4(ATM):c.6007-11C>T rs764191468
NM_000051.4(ATM):c.6007-13T>G
NM_000051.4(ATM):c.6007-17T>C rs2136116248
NM_000051.4(ATM):c.6007-19G>T
NM_000051.4(ATM):c.6007-4T>G rs1591776406
NM_000051.4(ATM):c.6007-5T>C rs863224294
NM_000051.4(ATM):c.6007-7T>C
NM_000051.4(ATM):c.6007-8G>C rs1057524058
NM_000051.4(ATM):c.6007-9T>C rs1591776333
NM_000051.4(ATM):c.6009T>C (p.Asp2003=) rs878853526
NM_000051.4(ATM):c.600T>G (p.Ser200=) rs2135225298
NM_000051.4(ATM):c.6015C>G (p.Leu2005=)
NM_000051.4(ATM):c.6016T>C (p.Leu2006=) rs1555113531
NM_000051.4(ATM):c.6018A>G (p.Leu2006=) rs876659301
NM_000051.4(ATM):c.6027C>T (p.Tyr2009=)
NM_000051.4(ATM):c.6048T>C (p.Asp2016=) rs2136119590
NM_000051.4(ATM):c.6052T>C (p.Leu2018=) rs2136119802
NM_000051.4(ATM):c.6060C>G (p.Gly2020=) rs2136120253
NM_000051.4(ATM):c.6063T>C (p.Cys2021=)
NM_000051.4(ATM):c.6066T>A (p.Gly2022=)
NM_000051.4(ATM):c.6072G>A (p.Gly2024=) rs1591777129
NM_000051.4(ATM):c.6075G>A (p.Lys2025=)
NM_000051.4(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.4(ATM):c.6093T>G (p.Thr2031=)
NM_000051.4(ATM):c.6095+10A>G
NM_000051.4(ATM):c.6095+11T>G rs2136122672
NM_000051.4(ATM):c.6095+13T>C rs2136122778
NM_000051.4(ATM):c.6095+17T>C rs2136122949
NM_000051.4(ATM):c.6095+18A>T
NM_000051.4(ATM):c.6095+20A>C rs2136123062
NM_000051.4(ATM):c.6095+5del rs1555113628
NM_000051.4(ATM):c.6095+6T>A rs1057522992
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000051.4(ATM):c.6095+7T>A
NM_000051.4(ATM):c.6095+7T>C
NM_000051.4(ATM):c.6095+7T>G rs2136122461
NM_000051.4(ATM):c.6095+9C>A
NM_000051.4(ATM):c.6095+9del rs2136122631
NM_000051.4(ATM):c.6096-10T>C rs2136126453
NM_000051.4(ATM):c.6096-12C>T
NM_000051.4(ATM):c.6096-15A>C
NM_000051.4(ATM):c.6096-15A>T
NM_000051.4(ATM):c.6096-16C>A
NM_000051.4(ATM):c.6096-18C>G
NM_000051.4(ATM):c.6096-18C>T
NM_000051.4(ATM):c.6096-20T>C rs746766702
NM_000051.4(ATM):c.6096-20T>G rs746766702
NM_000051.4(ATM):c.6096-5T>C
NM_000051.4(ATM):c.6096-7C>G rs1173338615
NM_000051.4(ATM):c.6096-7C>T
NM_000051.4(ATM):c.6096A>G (p.Arg2032=) rs1591778359
NM_000051.4(ATM):c.60T>C (p.Ala20=)
NM_000051.4(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.4(ATM):c.6105A>T (p.Thr2035=) rs1555113708
NM_000051.4(ATM):c.6117A>G (p.Glu2039=) rs2136127840
NM_000051.4(ATM):c.6120A>G (p.Ala2040=) rs1565499622
NM_000051.4(ATM):c.6129C>T (p.Gly2043=)
NM_000051.4(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.4(ATM):c.6135C>T (p.Ala2045=) rs1555113771
NM_000051.4(ATM):c.6138A>G (p.Leu2046=) rs1591778887
NM_000051.4(ATM):c.6141A>G (p.Val2047=) rs978540099
NM_000051.4(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.4(ATM):c.6150C>T (p.Asp2050=) rs1057520805
NM_000051.4(ATM):c.6153C>G (p.Leu2051=) rs876658452
NM_000051.4(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.4(ATM):c.6162A>G (p.Ala2054=)
NM_000051.4(ATM):c.6165C>A (p.Ile2055=) rs779848229
NM_000051.4(ATM):c.6168C>G (p.Pro2056=)
NM_000051.4(ATM):c.6168C>T (p.Pro2056=) rs1057520449
NM_000051.4(ATM):c.6171A>G (p.Ser2057=)
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6180C>A (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6180C>T (p.Arg2060=) rs2136131720
NM_000051.4(ATM):c.6195T>C (p.Ile2065=) rs756309395
NM_000051.4(ATM):c.6198+12C>A
NM_000051.4(ATM):c.6198+12C>T
NM_000051.4(ATM):c.6198+17A>C
NM_000051.4(ATM):c.6198+17A>G
NM_000051.4(ATM):c.6198+18T>C
NM_000051.4(ATM):c.6198+20T>C
NM_000051.4(ATM):c.6198+8T>G rs2136133343
NM_000051.4(ATM):c.6198+9_6198+12del rs1451367847
NM_000051.4(ATM):c.6199-10T>G rs2084770572
NM_000051.4(ATM):c.6199-4T>G rs2136162102
NM_000051.4(ATM):c.6199-5T>A rs1555114533
NM_000051.4(ATM):c.6199-6G>C rs1555114529
NM_000051.4(ATM):c.6199-6G>T rs1555114529
NM_000051.4(ATM):c.6199-8C>T rs1254806505
NM_000051.4(ATM):c.6199-9C>A rs1060501611
NM_000051.4(ATM):c.6199-9C>G
NM_000051.4(ATM):c.6201C>T (p.Ala2067=) rs2136162415
NM_000051.4(ATM):c.6202T>C (p.Leu2068=) rs2136162514
NM_000051.4(ATM):c.6211T>C (p.Leu2071=) rs928129862
NM_000051.4(ATM):c.6216A>T (p.Gly2072=) rs2136163345
NM_000051.4(ATM):c.621C>T (p.Ser207=)
NM_000051.4(ATM):c.6225T>C (p.His2075=)
NM_000051.4(ATM):c.6240T>C (p.Tyr2080=) rs1383950977
NM_000051.4(ATM):c.6252G>A (p.Leu2084=) rs876658700
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=) rs1565502999
NM_000051.4(ATM):c.6264T>C (p.Asn2088=) rs747372417
NM_000051.4(ATM):c.6276T>C (p.Cys2092=) rs2136166722
NM_000051.4(ATM):c.6279T>C (p.Pro2093=) rs141370828
NM_000051.4(ATM):c.627T>C (p.Phe209=)
NM_000051.4(ATM):c.6282A>G (p.Glu2094=)
NM_000051.4(ATM):c.6283C>T (p.Leu2095=) rs2084785926
NM_000051.4(ATM):c.6285A>G (p.Leu2095=) rs1555114732
NM_000051.4(ATM):c.628T>C (p.Leu210=) rs1555066477
NM_000051.4(ATM):c.6300C>T (p.Tyr2100=)
NM_000051.4(ATM):c.6306A>C (p.Ala2102=) rs2136168477
NM_000051.4(ATM):c.6309A>C (p.Ala2103=)
NM_000051.4(ATM):c.6309A>G (p.Ala2103=) rs2084789463
NM_000051.4(ATM):c.630G>A (p.Leu210=) rs1565369739
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6339T>C (p.Thr2113=)
NM_000051.4(ATM):c.633C>T (p.Asp211=) rs1060501634
NM_000051.4(ATM):c.6347+10T>A rs2136171374
NM_000051.4(ATM):c.6347+9T>G
NM_000051.4(ATM):c.6348-12C>T rs1057521664
NM_000051.4(ATM):c.6348-14_6348-10del
NM_000051.4(ATM):c.6348-17T>G rs2136217719
NM_000051.4(ATM):c.6348-18C>A
NM_000051.4(ATM):c.6348-18C>G rs1175043012
NM_000051.4(ATM):c.6348-18C>T
NM_000051.4(ATM):c.6348-19T>A
NM_000051.4(ATM):c.6348-19T>C
NM_000051.4(ATM):c.6348-4A>G rs1591099510
NM_000051.4(ATM):c.6348-5C>T rs1388651064
NM_000051.4(ATM):c.6348-7C>G rs2085074288
NM_000051.4(ATM):c.6348-7C>T
NM_000051.4(ATM):c.6348-8T>A
NM_000051.4(ATM):c.6348-9A>G rs1591099349
NM_000051.4(ATM):c.6354A>G (p.Glu2118=) rs2136218685
NM_000051.4(ATM):c.6357A>G (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.6357A>T (p.Val2119=) rs1060504295
NM_000051.4(ATM):c.636T>C (p.Phe212=) rs1555066499
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=) rs904589402
NM_000051.4(ATM):c.6375T>C (p.His2125=) rs1591099942
NM_000051.4(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.4(ATM):c.6384G>A (p.Leu2128=) rs1060501629
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=) rs2085081161
NM_000051.4(ATM):c.6390T>C (p.Asn2130=) rs1555116433
NM_000051.4(ATM):c.6393T>C (p.Ala2131=) rs1591100144
NM_000051.4(ATM):c.6399A>G (p.Gln2133=) rs750614487
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.6403C>T (p.Leu2135=)
NM_000051.4(ATM):c.6405A>G (p.Leu2135=) rs2085084061
NM_000051.4(ATM):c.6405A>T (p.Leu2135=)
NM_000051.4(ATM):c.6412A>C (p.Arg2138=) rs752069869
NM_000051.4(ATM):c.6414A>G (p.Arg2138=) rs1591100396
NM_000051.4(ATM):c.6417A>G (p.Glu2139=) rs2136221364
NM_000051.4(ATM):c.6426A>G (p.Thr2142=) rs1591100486
NM_000051.4(ATM):c.6429T>C (p.Phe2143=) rs2136221811
NM_000051.4(ATM):c.642C>T (p.Ser214=) rs1555066521
NM_000051.4(ATM):c.6432T>C (p.Tyr2144=)
NM_000051.4(ATM):c.6441C>G (p.Leu2147=)
NM_000051.4(ATM):c.6450C>G (p.Ala2150=)
NM_000051.4(ATM):c.6450C>T (p.Ala2150=) rs2136222693
NM_000051.4(ATM):c.6452+11A>C
NM_000051.4(ATM):c.6452+11_6452+12del rs1187485566
NM_000051.4(ATM):c.6452+16A>T
NM_000051.4(ATM):c.6452+17A>C rs371044809
NM_000051.4(ATM):c.6452+17A>T rs371044809
NM_000051.4(ATM):c.6452+17_6452+18del
NM_000051.4(ATM):c.6452+19dup
NM_000051.4(ATM):c.6452+21del rs2136223606
NM_000051.4(ATM):c.6452+7T>C rs1555116551
NM_000051.4(ATM):c.6452+8G>A rs2136223026
NM_000051.4(ATM):c.6452+9A>G rs771531015
NM_000051.4(ATM):c.6453-13T>C rs1555117056
NM_000051.4(ATM):c.6453-13T>G
NM_000051.4(ATM):c.6453-14T>A rs1380071831
NM_000051.4(ATM):c.6453-14T>C
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6453-5A>G rs755177899
NM_000051.4(ATM):c.6459A>G (p.Lys2153=)
NM_000051.4(ATM):c.6462A>G (p.Glu2154=) rs756453090
NM_000051.4(ATM):c.6480G>A (p.Lys2160=) rs2136239159
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.6498G>A (p.Val2166=) rs746514937
NM_000051.4(ATM):c.6501T>C (p.Tyr2167=) rs1204851027
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
NM_000051.4(ATM):c.6510T>C (p.Tyr2170=)
NM_000051.4(ATM):c.6516A>C (p.Thr2172=) rs576254168
NM_000051.4(ATM):c.6519T>G (p.Leu2173=) rs2136240892
NM_000051.4(ATM):c.6523A>C (p.Arg2175=) rs2085199556
NM_000051.4(ATM):c.6525G>A (p.Arg2175=) rs1555117190
NM_000051.4(ATM):c.6528G>A (p.Leu2176=) rs2136241451
NM_000051.4(ATM):c.6531G>A (p.Gln2177=) rs2136241619
NM_000051.4(ATM):c.6534C>T (p.Ala2178=) rs1555117210
NM_000051.4(ATM):c.6544C>T (p.Leu2182=)
NM_000051.4(ATM):c.6546G>A (p.Leu2182=) rs756551824
NM_000051.4(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.4(ATM):c.6555T>C (p.Ile2185=) rs1591107794
NM_000051.4(ATM):c.6572+10T>G rs2136243985
NM_000051.4(ATM):c.6572+12G>A rs3218677
NM_000051.4(ATM):c.6572+12G>C
NM_000051.4(ATM):c.6572+12del rs1555117290
NM_000051.4(ATM):c.6572+15T>C
NM_000051.4(ATM):c.6572+17A>C rs1555117296
NM_000051.4(ATM):c.6572+17A>G
NM_000051.4(ATM):c.6572+18C>G
NM_000051.4(ATM):c.6572+18C>T rs2085210231
NM_000051.4(ATM):c.6572+20_6572+21del rs1064793041
NM_000051.4(ATM):c.6572+7A>C rs2136243916
NM_000051.4(ATM):c.6572+7A>G
NM_000051.4(ATM):c.6572+9T>A rs2136243962
NM_000051.4(ATM):c.6573-11G>A rs375599653
NM_000051.4(ATM):c.6573-12C>G rs1057521666
NM_000051.4(ATM):c.6573-12C>T rs1057521666
NM_000051.4(ATM):c.6573-13T>A
NM_000051.4(ATM):c.6573-16_6573-15del rs1064794351
NM_000051.4(ATM):c.6573-5T>C
NM_000051.4(ATM):c.6573-8G>A rs1555118989
NM_000051.4(ATM):c.6573-8G>T rs1555118989
NM_000051.4(ATM):c.6576A>G (p.Ser2192=) rs2136306809
NM_000051.4(ATM):c.6582A>G (p.Thr2194=)
NM_000051.4(ATM):c.6585T>C (p.His2195=) rs786203401
NM_000051.4(ATM):c.6586A>C (p.Arg2196=) rs1555119011
NM_000051.4(ATM):c.6588A>G (p.Arg2196=) rs2136307484
NM_000051.4(ATM):c.6591A>G (p.Gln2197=) rs863224296
NM_000051.4(ATM):c.6603A>G (p.Val2201=) rs863224297
NM_000051.4(ATM):c.6606T>C (p.Tyr2202=) rs1367617850
NM_000051.4(ATM):c.660G>C (p.Ala220=)
NM_000051.4(ATM):c.660G>T (p.Ala220=) rs763669136
NM_000051.4(ATM):c.6612G>A (p.Lys2204=) rs876660650
NM_000051.4(ATM):c.662+13_662+14del rs1064795370
NM_000051.4(ATM):c.662+7T>C rs2135227769
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.662+8_662+9dup rs1591500816
NM_000051.4(ATM):c.6627C>G (p.Ser2209=) rs2085556098
NM_000051.4(ATM):c.663-10T>C rs2135236361
NM_000051.4(ATM):c.663-12G>C rs2135236291
NM_000051.4(ATM):c.663-15T>C
NM_000051.4(ATM):c.663-16G>A rs2079751648
NM_000051.4(ATM):c.663-16G>C
NM_000051.4(ATM):c.663-18T>C rs2135236192
NM_000051.4(ATM):c.663-20G>A
NM_000051.4(ATM):c.663-20G>C rs1555066898
NM_000051.4(ATM):c.663-5C>A rs1591503207
NM_000051.4(ATM):c.663-6T>A rs1555066907
NM_000051.4(ATM):c.663-7T>C rs2135236482
NM_000051.4(ATM):c.663-8C>G
NM_000051.4(ATM):c.6636C>A (p.Leu2212=) rs876659563
NM_000051.4(ATM):c.6636C>G (p.Leu2212=)
NM_000051.4(ATM):c.6663G>A (p.Glu2221=)
NM_000051.4(ATM):c.6666T>C (p.Pro2222=) rs1591128954
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
NM_000051.4(ATM):c.666A>G (p.Gln222=)
NM_000051.4(ATM):c.6676C>T (p.Leu2226=) rs745709682
NM_000051.4(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.4(ATM):c.6693G>A (p.Leu2231=) rs2136313009
NM_000051.4(ATM):c.6699C>T (p.Ile2233=) rs1555119149
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.6702G>A (p.Leu2234=)
NM_000051.4(ATM):c.6720C>T (p.Asp2240=)
NM_000051.4(ATM):c.6723C>T (p.Asn2241=) rs750763671
NM_000051.4(ATM):c.6726A>G (p.Ser2242=) rs878853534
NM_000051.4(ATM):c.6729A>G (p.Gln2243=) rs763431129
NM_000051.4(ATM):c.6735A>G (p.Glu2245=) rs2136315259
NM_000051.4(ATM):c.6738T>C (p.Cys2246=) rs2136315409
NM_000051.4(ATM):c.6753C>T (p.Leu2251=) rs1057521515
NM_000051.4(ATM):c.6756C>G (p.Thr2252=)
NM_000051.4(ATM):c.675C>T (p.Ser225=) rs1555066940
NM_000051.4(ATM):c.6762C>T (p.His2254=) rs563933875
NM_000051.4(ATM):c.6765T>C (p.Leu2255=) rs587780637
NM_000051.4(ATM):c.6774C>G (p.Leu2258=)
NM_000051.4(ATM):c.6777T>C (p.Ser2259=) rs1057522874
NM_000051.4(ATM):c.678T>C (p.Ser226=) rs2135237178
NM_000051.4(ATM):c.678T>G (p.Ser226=) rs2135237178
NM_000051.4(ATM):c.6792T>A (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.6792T>C (p.Thr2264=) rs1555119347
NM_000051.4(ATM):c.67C>A (p.Arg23=) rs746235533
NM_000051.4(ATM):c.6801C>T (p.Asn2267=) rs1591130210
NM_000051.4(ATM):c.6807+11T>C
NM_000051.4(ATM):c.6807+20_6807+21del rs1555119392
NM_000051.4(ATM):c.6807+8C>A rs1565519254
NM_000051.4(ATM):c.6807+8C>T rs1565519254
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6808-10T>C rs2136330431
NM_000051.4(ATM):c.6808-14C>G
NM_000051.4(ATM):c.6808-14C>T rs932081789
NM_000051.4(ATM):c.6808-17T>A
NM_000051.4(ATM):c.6808-18A>G
NM_000051.4(ATM):c.6808-18A>T rs1166582977
NM_000051.4(ATM):c.6808-18_6808-10del
NM_000051.4(ATM):c.6808-18_6808-17del rs2136330085
NM_000051.4(ATM):c.6808-6_6808-2del rs2085643760
NM_000051.4(ATM):c.6808-7A>G rs2085644108
NM_000051.4(ATM):c.6808-8C>G
NM_000051.4(ATM):c.6808-9T>C
NM_000051.4(ATM):c.6810C>T (p.Leu2270=) rs1060504305
NM_000051.4(ATM):c.6813T>C (p.Pro2271=) rs1555119714
NM_000051.4(ATM):c.6816A>G (p.Glu2272=) rs1555119726
NM_000051.4(ATM):c.6822A>G (p.Ala2274=)
NM_000051.4(ATM):c.6831A>G (p.Gln2277=) rs1339794219
NM_000051.4(ATM):c.6840G>A (p.Gln2280=) rs2136332740
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
NM_000051.4(ATM):c.684T>C (p.Gly228=) rs1591503368
NM_000051.4(ATM):c.684T>G (p.Gly228=)
NM_000051.4(ATM):c.6852T>C (p.Val2284=)
NM_000051.4(ATM):c.6861A>C (p.Gly2287=) rs2136333918
NM_000051.4(ATM):c.6864C>G (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6864C>T (p.Val2288=) rs2136334108
NM_000051.4(ATM):c.6870G>A (p.Glu2290=) rs1555119845
NM_000051.4(ATM):c.6876G>A (p.Gln2292=)
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.6882A>G (p.Glu2294=) rs1555119866
NM_000051.4(ATM):c.6885A>G (p.Glu2295=) rs748221367
NM_000051.4(ATM):c.6888A>C (p.Ala2296=)
NM_000051.4(ATM):c.6888A>G (p.Ala2296=)
NM_000051.4(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.4(ATM):c.6894A>G (p.Val2298=) rs2136335688
NM_000051.4(ATM):c.6903A>G (p.Ala2301=)
NM_000051.4(ATM):c.6909G>A (p.Lys2303=)
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
NM_000051.4(ATM):c.6918T>C (p.Ser2306=) rs1555119959
NM_000051.4(ATM):c.6921T>C (p.Leu2307=)
NM_000051.4(ATM):c.6921T>G (p.Leu2307=) rs1555119966
NM_000051.4(ATM):c.6924C>T (p.Ala2308=) rs759878732
NM_000051.4(ATM):c.6927G>A (p.Leu2309=) rs876660429
NM_000051.4(ATM):c.6927G>C (p.Leu2309=)
NM_000051.4(ATM):c.6930T>C (p.Ser2310=) rs876660710
NM_000051.4(ATM):c.693T>C (p.His231=) rs1555066993
NM_000051.4(ATM):c.6951G>A (p.Lys2317=) rs1591134349
NM_000051.4(ATM):c.6954G>A (p.Lys2318=) rs1555120044
NM_000051.4(ATM):c.6955T>C (p.Leu2319=)
NM_000051.4(ATM):c.6963C>T (p.Ala2321=) rs1555120057
NM_000051.4(ATM):c.696C>T (p.Ile232=) rs1591503507
NM_000051.4(ATM):c.6975+14del rs2136341824
NM_000051.4(ATM):c.6975+14dup rs1555120120
NM_000051.4(ATM):c.6975+18G>C rs2136342020
NM_000051.4(ATM):c.6975+18G>T
NM_000051.4(ATM):c.6975+20T>A
NM_000051.4(ATM):c.6975+20T>C rs781322757
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+7T>C
NM_000051.4(ATM):c.6975+7T>G rs754834282
NM_000051.4(ATM):c.6975+8T>C rs2136341429
NM_000051.4(ATM):c.6975+9T>G
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-10T>C
NM_000051.4(ATM):c.6976-11T>A rs1565523441
NM_000051.4(ATM):c.6976-11T>C rs1565523441
NM_000051.4(ATM):c.6976-16T>C
NM_000051.4(ATM):c.6976-19T>C rs1026199027
NM_000051.4(ATM):c.6976-4A>G rs2136372366
NM_000051.4(ATM):c.6976-4A>T
NM_000051.4(ATM):c.6976-5T>C rs1555120913
NM_000051.4(ATM):c.6976-6A>G rs2136372183
NM_000051.4(ATM):c.6976-6A>T rs2136372183
NM_000051.4(ATM):c.6976-8T>A rs2136372089
NM_000051.4(ATM):c.6976-9C>A
NM_000051.4(ATM):c.6990A>G (p.Leu2330=) rs2136373497
NM_000051.4(ATM):c.6996T>C (p.Leu2332=)
NM_000051.4(ATM):c.6996T>G (p.Leu2332=) rs2136373865
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.6999A>G (p.Thr2333=) rs759267807
NM_000051.4(ATM):c.699A>G (p.Leu233=) rs1555067006
NM_000051.4(ATM):c.7005A>G (p.Thr2335=) rs1555120978
NM_000051.4(ATM):c.7008A>G (p.Glu2336=) rs2136374637
NM_000051.4(ATM):c.7011T>C (p.Cys2337=) rs878853536
NM_000051.4(ATM):c.7012C>T (p.Leu2338=) rs1555120990
NM_000051.4(ATM):c.7015A>C (p.Arg2339=) rs752531255
NM_000051.4(ATM):c.7023T>C (p.Cys2341=) rs878853537
NM_000051.4(ATM):c.7029C>T (p.Asn2343=) rs1251099495
NM_000051.4(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.4(ATM):c.7044G>T (p.Thr2348=) rs140104789
NM_000051.4(ATM):c.7047C>T (p.Cys2349=)
NM_000051.4(ATM):c.7048T>C (p.Leu2350=) rs2136377415
NM_000051.4(ATM):c.7050A>G (p.Leu2350=) rs1555121076
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
NM_000051.4(ATM):c.705T>C (p.Ala235=) rs756175724
NM_000051.4(ATM):c.705T>G (p.Ala235=) rs756175724
NM_000051.4(ATM):c.7062G>C (p.Ala2354=) rs143489373
NM_000051.4(ATM):c.7065C>T (p.Val2355=) rs2136378354
NM_000051.4(ATM):c.7077C>T (p.Thr2359=) rs1555121132
NM_000051.4(ATM):c.7081C>T (p.Leu2361=) rs1412288141
NM_000051.4(ATM):c.7089+12G>T
NM_000051.4(ATM):c.7089+15G>A
NM_000051.4(ATM):c.7089+16C>A
NM_000051.4(ATM):c.7089+19C>A
NM_000051.4(ATM):c.7089+7T>G
NM_000051.4(ATM):c.7090-12G>A
NM_000051.4(ATM):c.7090-12G>C
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-14G>T rs1486032156
NM_000051.4(ATM):c.7090-16T>C
NM_000051.4(ATM):c.7090-17G>A
NM_000051.4(ATM):c.7090-17G>C rs1555121895
NM_000051.4(ATM):c.7090-17G>T rs1555121895
NM_000051.4(ATM):c.7090-18G>T
NM_000051.4(ATM):c.7090-19T>G rs2136408437
NM_000051.4(ATM):c.7090-6T>C rs2085972331
NM_000051.4(ATM):c.7090-9T>C rs2136409178
NM_000051.4(ATM):c.7092A>G (p.Ala2364=) rs1591150359
NM_000051.4(ATM):c.7107A>G (p.Gly2369=) rs1057523056
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=) rs760534895
NM_000051.4(ATM):c.7119A>G (p.Gly2373=)
NM_000051.4(ATM):c.711T>C (p.Thr237=) rs1294159555
NM_000051.4(ATM):c.7125T>C (p.Ser2375=) rs878853539
NM_000051.4(ATM):c.7128T>C (p.Ser2376=) rs2136412428
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
NM_000051.4(ATM):c.7140A>G (p.Arg2380=) rs750569023
NM_000051.4(ATM):c.7155G>A (p.Lys2385=) rs878853540
NM_000051.4(ATM):c.7164C>A (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7164C>T (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)
NM_000051.4(ATM):c.7179T>C (p.Phe2393=) rs1057520430
NM_000051.4(ATM):c.7182A>C (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>G (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7182A>T (p.Ser2394=) rs976994998
NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)
NM_000051.4(ATM):c.7198A>C (p.Arg2400=) rs777423778
NM_000051.4(ATM):c.72+12C>T
NM_000051.4(ATM):c.72+12_72+15del rs2135007520
NM_000051.4(ATM):c.72+15A>C
NM_000051.4(ATM):c.72+17A>G rs2135007789
NM_000051.4(ATM):c.72+19T>A rs776457787
NM_000051.4(ATM):c.72+19T>C
NM_000051.4(ATM):c.72+20C>A rs1555053997
NM_000051.4(ATM):c.72+20C>G rs1555053997
NM_000051.4(ATM):c.72+20C>T rs1555053997
NM_000051.4(ATM):c.72+7A>G
NM_000051.4(ATM):c.72+7A>T
NM_000051.4(ATM):c.72+8A>G rs2135007393
NM_000051.4(ATM):c.72+8del
NM_000051.4(ATM):c.72+9T>C rs2135007450
NM_000051.4(ATM):c.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=) rs1591151390
NM_000051.4(ATM):c.7218A>G (p.Lys2406=) rs1321705346
NM_000051.4(ATM):c.7221A>C (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7221A>T (p.Ser2407=) rs786201881
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7236C>T (p.Asn2412=)
NM_000051.4(ATM):c.7239G>A (p.Lys2413=) rs1555122182
NM_000051.4(ATM):c.7242A>G (p.Gln2414=) rs761907546
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7251G>A (p.Leu2417=) rs2136420487
NM_000051.4(ATM):c.7257A>G (p.Arg2419=) rs1591151857
NM_000051.4(ATM):c.7263A>G (p.Lys2421=) rs1555122232
NM_000051.4(ATM):c.726T>C (p.Thr242=) rs1555067070
NM_000051.4(ATM):c.7278C>T (p.Leu2426=) rs2136422492
NM_000051.4(ATM):c.7281T>C (p.Leu2427=) rs1239369148
NM_000051.4(ATM):c.7284G>A (p.Arg2428=) rs1591152279
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)
NM_000051.4(ATM):c.7290T>C (p.His2430=) rs876658715
NM_000051.4(ATM):c.7299G>A (p.Gln2433=) rs1057520451
NM_000051.4(ATM):c.73-11T>A rs2135009950
NM_000051.4(ATM):c.73-12T>C rs2078815559
NM_000051.4(ATM):c.73-14C>T
NM_000051.4(ATM):c.73-18T>G
NM_000051.4(ATM):c.73-4T>G rs1565344387
NM_000051.4(ATM):c.73-9T>A rs1591446620
NM_000051.4(ATM):c.73-9T>C rs1591446620
NM_000051.4(ATM):c.7302A>G (p.Thr2434=) rs752125292
NM_000051.4(ATM):c.7307+14T>C
NM_000051.4(ATM):c.7307+15A>G
NM_000051.4(ATM):c.7307+17A>T
NM_000051.4(ATM):c.7307+18A>G rs777909508
NM_000051.4(ATM):c.7307+19G>T
NM_000051.4(ATM):c.7307+19del
NM_000051.4(ATM):c.7307+20T>C
NM_000051.4(ATM):c.7307+7A>G
NM_000051.4(ATM):c.7307+8G>C rs1057523631
NM_000051.4(ATM):c.7308-10T>C rs745319720
NM_000051.4(ATM):c.7308-10dup rs1555122910
NM_000051.4(ATM):c.7308-11T>C rs1565529149
NM_000051.4(ATM):c.7308-15_7308-12dup rs2136450158
NM_000051.4(ATM):c.7308-17T>C
NM_000051.4(ATM):c.7308-17T>G
NM_000051.4(ATM):c.7308-19C>A rs2136449985
NM_000051.4(ATM):c.7308-20_7308-16del rs2136449779
NM_000051.4(ATM):c.7308-4C>T
NM_000051.4(ATM):c.7308-5G>A rs2086108867
NM_000051.4(ATM):c.7308-8T>C rs1555122924
NM_000051.4(ATM):c.7308-8T>G
NM_000051.4(ATM):c.7308-9C>A rs878853541
NM_000051.4(ATM):c.7308-9C>T rs878853541
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=) rs763470424
NM_000051.4(ATM):c.732T>A (p.Ala244=) rs2135239123
NM_000051.4(ATM):c.7333C>T (p.Leu2445=) rs763068664
NM_000051.4(ATM):c.7335G>A (p.Leu2445=) rs2136453475
NM_000051.4(ATM):c.7339T>C (p.Leu2447=) rs1591159997
NM_000051.4(ATM):c.7347A>G (p.Glu2449=) rs2136454257
NM_000051.4(ATM):c.7350A>G (p.Leu2450=)
NM_000051.4(ATM):c.7353C>T (p.Ala2451=) rs1591160115
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)
NM_000051.4(ATM):c.735C>G (p.Val245=) rs3218674
NM_000051.4(ATM):c.7362A>C (p.Ala2454=) rs1591160216
NM_000051.4(ATM):c.7365G>A (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7365G>C (p.Leu2455=) rs756506590
NM_000051.4(ATM):c.7368A>G (p.Lys2456=) rs2136455679
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.7389A>G (p.Leu2463=) rs2136457026
NM_000051.4(ATM):c.738C>T (p.Asn246=)
NM_000051.4(ATM):c.7398A>G (p.Ala2466=) rs2136457427
NM_000051.4(ATM):c.7401T>G (p.Val2467=) rs1565529761
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=) rs1555123144
NM_000051.4(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.4(ATM):c.7420T>C (p.Leu2474=) rs1555123149
NM_000051.4(ATM):c.7422A>G (p.Leu2474=) rs1591160792
NM_000051.4(ATM):c.7423T>C (p.Leu2475=) rs2136459027
NM_000051.4(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.4(ATM):c.7434A>G (p.Glu2478=) rs1555123171
NM_000051.4(ATM):c.7437A>G (p.Glu2479=) rs1591160964
NM_000051.4(ATM):c.7443T>C (p.Asp2481=) rs1555123181
NM_000051.4(ATM):c.744A>C (p.Arg248=) rs1591503905
NM_000051.4(ATM):c.7452A>G (p.Val2484=) rs2136460667
NM_000051.4(ATM):c.7461T>G (p.Leu2487=)
NM_000051.4(ATM):c.7464T>C (p.Cys2488=) rs1555123227
NM_000051.4(ATM):c.7467C>A (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7467C>T (p.Ser2489=) rs767846264
NM_000051.4(ATM):c.7470C>G (p.Leu2490=) rs1057521604
NM_000051.4(ATM):c.7476T>G (p.Leu2492=) rs2136462119
NM_000051.4(ATM):c.7485T>G (p.Ser2495=)
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.4(ATM):c.750A>C (p.Arg250=)
NM_000051.4(ATM):c.7515+14A>C
NM_000051.4(ATM):c.7515+14A>G
NM_000051.4(ATM):c.7515+18C>A
NM_000051.4(ATM):c.7515+19A>T rs879254202
NM_000051.4(ATM):c.7515+22_7515+23del rs2136466787
NM_000051.4(ATM):c.7515+7G>A rs2136465577
NM_000051.4(ATM):c.7515+9T>A rs1465593444
NM_000051.4(ATM):c.7515+9T>G rs1465593444
NM_000051.4(ATM):c.7516-11T>G
NM_000051.4(ATM):c.7516-13T>G rs2136489988
NM_000051.4(ATM):c.7516-14T>A
NM_000051.4(ATM):c.7516-14T>C rs1254619756
NM_000051.4(ATM):c.7516-16T>C rs2086218796
NM_000051.4(ATM):c.7516-16T>G
NM_000051.4(ATM):c.7516-18T>A
NM_000051.4(ATM):c.7516-20T>C
NM_000051.4(ATM):c.7516-20T>G rs2136489275
NM_000051.4(ATM):c.7516-4G>T rs876660105
NM_000051.4(ATM):c.7516-6T>C rs1057521003
NM_000051.4(ATM):c.7516-7del rs1591166840
NM_000051.4(ATM):c.7516-8A>T rs2136490103
NM_000051.4(ATM):c.7516-9T>A rs2086219990
NM_000051.4(ATM):c.7518A>G (p.Arg2506=) rs2086221982
NM_000051.4(ATM):c.7533T>C (p.Ile2511=) rs786201279
NM_000051.4(ATM):c.7536A>G (p.Pro2512=) rs786202802
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
NM_000051.4(ATM):c.7539A>T (p.Thr2513=)
NM_000051.4(ATM):c.7557T>C (p.Leu2519=) rs1060504266
NM_000051.4(ATM):c.7567T>C (p.Leu2523=) rs1565532289
NM_000051.4(ATM):c.756T>C (p.Cys252=) rs2079762952
NM_000051.4(ATM):c.7587C>G (p.Thr2529=)
NM_000051.4(ATM):c.7587C>T (p.Thr2529=) rs890244103
NM_000051.4(ATM):c.7599A>G (p.Gly2533=) rs2136497122
NM_000051.4(ATM):c.759A>G (p.Glu253=) rs2135239992
NM_000051.4(ATM):c.7605A>G (p.Leu2535=) rs1591167954
NM_000051.4(ATM):c.7614T>C (p.His2538=)
NM_000051.4(ATM):c.7623C>T (p.Leu2541=) rs2086235791
NM_000051.4(ATM):c.7626T>C (p.Asn2542=)
NM_000051.4(ATM):c.7629+12T>G
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7629+13G>A rs563651647
NM_000051.4(ATM):c.7629+14A>C
NM_000051.4(ATM):c.7629+14A>G rs2136500635
NM_000051.4(ATM):c.7629+7A>T
NM_000051.4(ATM):c.7629+9A>C rs2136500176
NM_000051.4(ATM):c.7630-11T>C
NM_000051.4(ATM):c.7630-12C>A
NM_000051.4(ATM):c.7630-16A>G rs2136513501
NM_000051.4(ATM):c.7630-16_7630-10del rs2136513424
NM_000051.4(ATM):c.7630-16_7630-14del
NM_000051.4(ATM):c.7630-19A>C
NM_000051.4(ATM):c.7630-19A>G
NM_000051.4(ATM):c.7630-7C>T rs730881276
NM_000051.4(ATM):c.7632A>C (p.Leu2544=) rs1363431568
NM_000051.4(ATM):c.7632A>G (p.Leu2544=)
NM_000051.4(ATM):c.7647A>G (p.Ser2549=)
NM_000051.4(ATM):c.7647A>T (p.Ser2549=) rs1591171175
NM_000051.4(ATM):c.7653T>C (p.Asp2551=)
NM_000051.4(ATM):c.7656C>T (p.His2552=) rs1555124473
NM_000051.4(ATM):c.7659C>T (p.Pro2553=) rs1591171386
NM_000051.4(ATM):c.765A>C (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.765A>G (p.Gly255=) rs1591504056
NM_000051.4(ATM):c.7665C>T (p.His2555=) rs908781160
NM_000051.4(ATM):c.7674T>C (p.Phe2558=) rs1291388225
NM_000051.4(ATM):c.7677T>C (p.Ile2559=) rs2136519388
NM_000051.4(ATM):c.7681C>T (p.Leu2561=) rs1060504314
NM_000051.4(ATM):c.7683G>C (p.Leu2561=) rs2136519792
NM_000051.4(ATM):c.7695T>C (p.Asn2565=) rs2086296795
NM_000051.4(ATM):c.7698A>G (p.Ala2566=)
NM_000051.4(ATM):c.7701C>T (p.Asn2567=) rs786201637
NM_000051.4(ATM):c.7710A>G (p.Glu2570=) rs760215505
NM_000051.4(ATM):c.7714C>T (p.Leu2572=) rs1472587727
NM_000051.4(ATM):c.7719T>G (p.Thr2573=) rs2136523339
NM_000051.4(ATM):c.771A>G (p.Glu257=) rs786201068
NM_000051.4(ATM):c.7731A>G (p.Val2577=) rs2136524528
NM_000051.4(ATM):c.7734C>G (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7734C>T (p.Ala2578=) rs753442840
NM_000051.4(ATM):c.7735A>C (p.Arg2579=) rs2136524882
NM_000051.4(ATM):c.7743C>T (p.Ser2581=)
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)
NM_000051.4(ATM):c.7749A>T (p.Ile2583=) rs2136526242
NM_000051.4(ATM):c.7752T>C (p.Thr2584=) rs2136526454
NM_000051.4(ATM):c.7758T>C (p.Asn2586=) rs2136526693
NM_000051.4(ATM):c.7764T>A (p.Pro2588=) rs1591172609
NM_000051.4(ATM):c.7770A>G (p.Gln2590=) rs864622437
NM_000051.4(ATM):c.7773C>T (p.Ser2591=) rs1045232065
NM_000051.4(ATM):c.7776T>G (p.Ser2592=)
NM_000051.4(ATM):c.777T>A (p.Leu259=)
NM_000051.4(ATM):c.777T>C (p.Leu259=) rs2135240556
NM_000051.4(ATM):c.7782T>A (p.Leu2594=) rs905474729
NM_000051.4(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.4(ATM):c.7788+10T>C rs1555124759
NM_000051.4(ATM):c.7788+10T>G rs1555124759
NM_000051.4(ATM):c.7788+12A>T rs1555124760
NM_000051.4(ATM):c.7788+18_7788+19del
NM_000051.4(ATM):c.7788+19C>G rs201990371
NM_000051.4(ATM):c.7788+20G>T
NM_000051.4(ATM):c.7788+20_7788+24del
NM_000051.4(ATM):c.7788+8G>C
NM_000051.4(ATM):c.7788+9A>G rs1182105888
NM_000051.4(ATM):c.7789-11T>C
NM_000051.4(ATM):c.7789-14T>C
NM_000051.4(ATM):c.7789-16T>C
NM_000051.4(ATM):c.7789-16T>G
NM_000051.4(ATM):c.7789-19T>C rs560800769
NM_000051.4(ATM):c.7789-29_7789-16del
NM_000051.4(ATM):c.7789-5A>C
NM_000051.4(ATM):c.7789-5A>G
NM_000051.4(ATM):c.7789-9T>C
NM_000051.4(ATM):c.7794A>C (p.Arg2598=) rs1555125220
NM_000051.4(ATM):c.7797A>G (p.Thr2599=) rs2086405045
NM_000051.4(ATM):c.7800G>A (p.Glu2600=) rs1591178097
NM_000051.4(ATM):c.7809T>C (p.Asn2603=) rs2136562134
NM_000051.4(ATM):c.7827C>T (p.Ile2609=) rs768423205
NM_000051.4(ATM):c.7828A>C (p.Arg2610=)
NM_000051.4(ATM):c.7833T>C (p.Ser2611=) rs2136564372
NM_000051.4(ATM):c.7834A>C (p.Arg2612=) rs1305691166
NM_000051.4(ATM):c.7836G>A (p.Arg2612=) rs761324887
NM_000051.4(ATM):c.7842T>G (p.Pro2614=) rs876660827
NM_000051.4(ATM):c.7860T>G (p.Val2620=) rs1555125353
NM_000051.4(ATM):c.7878T>G (p.Ala2626=) rs2086422316
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=) rs2086423868
NM_000051.4(ATM):c.7899A>G (p.Leu2633=) rs2086426925
NM_000051.4(ATM):c.78A>G (p.Glu26=) rs786202953
NM_000051.4(ATM):c.7911G>A (p.Gln2637=) rs2136572151
NM_000051.4(ATM):c.7917G>A (p.Lys2639=) rs1555125501
NM_000051.4(ATM):c.7927+12T>C
NM_000051.4(ATM):c.7927+13T>C
NM_000051.4(ATM):c.7927+14A>C rs770850205
NM_000051.4(ATM):c.7927+14A>G rs770850205
NM_000051.4(ATM):c.7927+14A>T
NM_000051.4(ATM):c.7927+16A>C rs746438364
NM_000051.4(ATM):c.7927+17G>A rs774276048
NM_000051.4(ATM):c.7927+20G>T
NM_000051.4(ATM):c.7928-15C>A
NM_000051.4(ATM):c.7928-18C>G
NM_000051.4(ATM):c.7928-18C>T
NM_000051.4(ATM):c.7928-3C>T rs1555126153
NM_000051.4(ATM):c.7928-4A>C rs876658629
NM_000051.4(ATM):c.7928-4A>G rs876658629
NM_000051.4(ATM):c.7928-5T>C rs1591183992
NM_000051.4(ATM):c.7928-7A>T
NM_000051.4(ATM):c.7928-9T>C rs1060504261
NM_000051.4(ATM):c.792T>C (p.Tyr264=)
NM_000051.4(ATM):c.7947A>C (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7947A>G (p.Ala2649=) rs1060504301
NM_000051.4(ATM):c.7950C>T (p.Asp2650=) rs1060504298
NM_000051.4(ATM):c.7959T>C (p.Ile2653=) rs2136613483
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.7968T>C (p.Leu2656=) rs1591184410
NM_000051.4(ATM):c.7971G>A (p.Lys2657=)
NM_000051.4(ATM):c.7977A>G (p.Leu2659=) rs2136615106
NM_000051.4(ATM):c.7992C>T (p.Val2664=) rs1591184637
NM_000051.4(ATM):c.7995T>A (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7995T>G (p.Pro2665=) rs1591184714
NM_000051.4(ATM):c.7C>T (p.Leu3=)
NM_000051.4(ATM):c.8010+11A>C rs760588708
NM_000051.4(ATM):c.8010+11A>G
NM_000051.4(ATM):c.8010+14A>T rs2136618870
NM_000051.4(ATM):c.8010+18C>A rs2086560371
NM_000051.4(ATM):c.8010+18C>G
NM_000051.4(ATM):c.8010+18_8010+19del rs750095790
NM_000051.4(ATM):c.8010+19T>C rs1555126346
NM_000051.4(ATM):c.8010+19T>G
NM_000051.4(ATM):c.8010+20T>C rs2136619908
NM_000051.4(ATM):c.8010+21_8010+24del
NM_000051.4(ATM):c.8010+30_8010+31insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTCTTGATTTTTTTT rs2136618959
NM_000051.4(ATM):c.8010+5T>G rs56256497
NM_000051.4(ATM):c.8010+9C>T
NM_000051.4(ATM):c.8011-12T>C rs2136651285
NM_000051.4(ATM):c.8011-13A>T
NM_000051.4(ATM):c.8011-16T>C rs776948701
NM_000051.4(ATM):c.8011-20C>A
NM_000051.4(ATM):c.8011-20C>T
NM_000051.4(ATM):c.8011-4_8011-2del rs2136651774
NM_000051.4(ATM):c.8011-6T>C rs762092284
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8011-7T>C rs2136651700
NM_000051.4(ATM):c.8011-8T>G rs1189310621
NM_000051.4(ATM):c.8011-9T>C rs1591190803
NM_000051.4(ATM):c.8016C>T (p.Asp2672=) rs1591191019
NM_000051.4(ATM):c.8028A>G (p.Glu2676=) rs1389648050
NM_000051.4(ATM):c.8043G>T (p.Val2681=)
NM_000051.4(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.4(ATM):c.8074T>C (p.Leu2692=)
NM_000051.4(ATM):c.8082A>C (p.Gly2694=) rs540266635
NM_000051.4(ATM):c.8085T>C (p.Gly2695=)
NM_000051.4(ATM):c.8088A>G (p.Val2696=) rs2136659987
NM_000051.4(ATM):c.8091T>C (p.Asn2697=) rs756887364
NM_000051.4(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.4(ATM):c.8103A>T (p.Ile2701=) rs779803253
NM_000051.4(ATM):c.8115A>C (p.Val2705=) rs1188411746
NM_000051.4(ATM):c.8118T>C (p.Gly2706=) rs1057520990
NM_000051.4(ATM):c.8124T>C (p.Asp2708=) rs587781990
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
NM_000051.4(ATM):c.8133G>A (p.Glu2711=) rs1591192322
NM_000051.4(ATM):c.8145T>C (p.Leu2715=)
NM_000051.4(ATM):c.8151+11C>A rs555381912
NM_000051.4(ATM):c.8151+11_8151+17del
NM_000051.4(ATM):c.8151+13T>G
NM_000051.4(ATM):c.8151+17C>T rs761029795
NM_000051.4(ATM):c.8151+3G>A rs760065522
NM_000051.4(ATM):c.8152-11T>C rs2136690464
NM_000051.4(ATM):c.8152-17del rs2136689987
NM_000051.4(ATM):c.8152-18T>C
NM_000051.4(ATM):c.8152-20C>G
NM_000051.4(ATM):c.8152-20C>T rs1555128158
NM_000051.4(ATM):c.8152-4G>A
NM_000051.4(ATM):c.8152-4G>C
NM_000051.4(ATM):c.8152-5T>C
NM_000051.4(ATM):c.8152-7T>C rs2086778829
NM_000051.4(ATM):c.8152-8T>C
NM_000051.4(ATM):c.8152-9A>G rs1555128181
NM_000051.4(ATM):c.8152-9A>T
NM_000051.4(ATM):c.8154C>G (p.Gly2718=) rs371021126
NM_000051.4(ATM):c.8157T>C (p.Arg2719=) rs2136691533
NM_000051.4(ATM):c.8166G>C (p.Leu2722=)
NM_000051.4(ATM):c.8178T>G (p.Ala2726=) rs367575159
NM_000051.4(ATM):c.8181C>T (p.Val2727=) rs2136693653
NM_000051.4(ATM):c.8187A>G (p.Gln2729=) rs587781946
NM_000051.4(ATM):c.8193C>A (p.Val2731=) rs1060504307
NM_000051.4(ATM):c.81T>G (p.Val27=) rs2135010830
NM_000051.4(ATM):c.8205T>C (p.Cys2735=) rs2136696071
NM_000051.4(ATM):c.8208T>C (p.Asn2736=) rs1057523318
NM_000051.4(ATM):c.8211A>G (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8211A>T (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8215C>T (p.Leu2739=) rs1060504311
NM_000051.4(ATM):c.8217G>T (p.Leu2739=) rs759069006
NM_000051.4(ATM):c.8220G>A (p.Gln2740=) rs1060504313
NM_000051.4(ATM):c.8226C>T (p.Asn2742=) rs2136697809
NM_000051.4(ATM):c.8235T>C (p.Thr2745=) rs2136698319
NM_000051.4(ATM):c.823T>C (p.Leu275=)
NM_000051.4(ATM):c.8244G>A (p.Arg2748=) rs1591199166
NM_000051.4(ATM):c.8259T>C (p.Cys2753=)
NM_000051.4(ATM):c.8262T>G (p.Thr2754=) rs1057521506
NM_000051.4(ATM):c.8268+14C>T rs1057520231
NM_000051.4(ATM):c.8268+15T>A rs1555128691
NM_000051.4(ATM):c.8268+15T>G rs1555128691
NM_000051.4(ATM):c.8268+17_8268+18del
NM_000051.4(ATM):c.8268+19G>T rs1415660878
NM_000051.4(ATM):c.8268+22_8268+25del rs746285826
NM_000051.4(ATM):c.8268+7A>G rs1057524565
NM_000051.4(ATM):c.8268+7A>T rs1057524565
NM_000051.4(ATM):c.8268+8T>A rs1263247290
NM_000051.4(ATM):c.8268+8T>G
NM_000051.4(ATM):c.8268+9T>C rs2136701769
NM_000051.4(ATM):c.8269-10G>A
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8269-12C>G
NM_000051.4(ATM):c.8269-12C>T
NM_000051.4(ATM):c.8269-13del rs2136938446
NM_000051.4(ATM):c.8269-18_8269-15del rs1064794684
NM_000051.4(ATM):c.8269-19del
NM_000051.4(ATM):c.8269-20T>C
NM_000051.4(ATM):c.8269-5T>G rs1555135331
NM_000051.4(ATM):c.8269-6C>T rs1284643640
NM_000051.4(ATM):c.8269-6dup
NM_000051.4(ATM):c.8269-9T>C rs2136938827
NM_000051.4(ATM):c.8277C>T (p.Pro2759=) rs878853548
NM_000051.4(ATM):c.8283T>G (p.Ser2761=) rs1591247541
NM_000051.4(ATM):c.8289A>G (p.Arg2763=) rs2136941755
NM_000051.4(ATM):c.8292T>C (p.Ser2764=) rs781690523
NM_000051.4(ATM):c.8301T>C (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8301T>G (p.Leu2767=) rs1060504303
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8313A>G (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8319T>C (p.Thr2773=) rs1591248170
NM_000051.4(ATM):c.8322C>A (p.Val2774=) rs1060504267
NM_000051.4(ATM):c.8322C>T (p.Val2774=)
NM_000051.4(ATM):c.8325C>A (p.Pro2775=)
NM_000051.4(ATM):c.8346C>T (p.Asn2782=) rs999357615
NM_000051.4(ATM):c.8367A>G (p.Lys2789=) rs1393366622
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=) rs1060504292
NM_000051.4(ATM):c.8379A>G (p.Pro2793=)
NM_000051.4(ATM):c.837T>A (p.Ile279=) rs2135242369
NM_000051.4(ATM):c.837T>C (p.Ile279=) rs2135242369
NM_000051.4(ATM):c.8382T>C (p.Asn2794=)
NM_000051.4(ATM):c.8394C>T (p.Ala2798=) rs2136951901
NM_000051.4(ATM):c.8400G>A (p.Gln2800=)
NM_000051.4(ATM):c.8403C>T (p.Cys2801=) rs1555135852
NM_000051.4(ATM):c.8406A>G (p.Gln2802=) rs2136952999
NM_000051.4(ATM):c.8418+11C>G
NM_000051.4(ATM):c.8418+12C>A
NM_000051.4(ATM):c.8418+12C>T
NM_000051.4(ATM):c.8418+13C>G
NM_000051.4(ATM):c.8418+14A>C rs1555135939
NM_000051.4(ATM):c.8418+15A>C rs1565558731
NM_000051.4(ATM):c.8418+15A>G
NM_000051.4(ATM):c.8418+17A>G rs2136955270
NM_000051.4(ATM):c.8418+18T>C
NM_000051.4(ATM):c.8418+681A>C
NM_000051.4(ATM):c.8418+7G>A rs2136954579
NM_000051.4(ATM):c.8418+7G>T
NM_000051.4(ATM):c.8418+8A>G rs1591249687
NM_000051.4(ATM):c.8418+8A>T rs1591249687
NM_000051.4(ATM):c.8418+9C>T
NM_000051.4(ATM):c.8419-10C>G rs2137022388
NM_000051.4(ATM):c.8419-11T>C
NM_000051.4(ATM):c.8419-14T>A
NM_000051.4(ATM):c.8419-14T>C rs1441150092
NM_000051.4(ATM):c.8419-15A>T
NM_000051.4(ATM):c.8419-16T>C rs2137021914
NM_000051.4(ATM):c.8419-17A>G rs1057520452
NM_000051.4(ATM):c.8419-18T>C rs2088256725
NM_000051.4(ATM):c.8419-20T>C
NM_000051.4(ATM):c.8419-22TA[2] rs1257766623
NM_000051.4(ATM):c.8419-4A>G
NM_000051.4(ATM):c.8419-7T>C rs1591263768
NM_000051.4(ATM):c.8419-7_8419-4del rs730881306
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000051.4(ATM):c.8424G>T (p.Val2808=) rs786203870
NM_000051.4(ATM):c.8433G>A (p.Lys2811=)
NM_000051.4(ATM):c.8445G>A (p.Glu2815=) rs2137026158
NM_000051.4(ATM):c.8448A>G (p.Lys2816=) rs1555138048
NM_000051.4(ATM):c.844T>C (p.Leu282=) rs1565371944
NM_000051.4(ATM):c.8451T>C (p.Tyr2817=)
NM_000051.4(ATM):c.8454A>G (p.Glu2818=) rs2137026950
NM_000051.4(ATM):c.8457C>A (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8457C>G (p.Val2819=) rs2137027225
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
NM_000051.4(ATM):c.8469T>C (p.Val2823=) rs1555138081
NM_000051.4(ATM):c.846A>G (p.Leu282=) rs754008850
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.8472C>T (p.Cys2824=) rs1555138090
NM_000051.4(ATM):c.8475A>G (p.Gln2825=) rs769656947
NM_000051.4(ATM):c.8478T>C (p.Asn2826=) rs1315026465
NM_000051.4(ATM):c.8484A>G (p.Gln2828=)
NM_000051.4(ATM):c.8490T>C (p.Val2830=) rs773149592
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)
NM_000051.4(ATM):c.84G>A (p.Glu28=) rs1591446775
NM_000051.4(ATM):c.8502C>T (p.Phe2834=) rs1555138167
NM_000051.4(ATM):c.8505C>T (p.Cys2835=)
NM_000051.4(ATM):c.8514A>G (p.Lys2838=) rs1591264927
NM_000051.4(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.4(ATM):c.8526A>G (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8526A>T (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8541G>A (p.Glu2847=)
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)
NM_000051.4(ATM):c.8545C>A (p.Arg2849=) rs587778080
NM_000051.4(ATM):c.8548T>C (p.Leu2850=) rs1555138320
NM_000051.4(ATM):c.8550G>A (p.Leu2850=) rs1591265370
NM_000051.4(ATM):c.8553T>C (p.Ala2851=) rs2137035844
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8559G>C (p.Thr2853=) rs368058202
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.8562C>T (p.Arg2854=) rs878853550
NM_000051.4(ATM):c.8565T>C (p.Ser2855=) rs780905851
NM_000051.4(ATM):c.8568A>G (p.Val2856=) rs2137037514
NM_000051.4(ATM):c.8568A>T (p.Val2856=)
NM_000051.4(ATM):c.8571T>C (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8571T>G (p.Ala2857=) rs786203050
NM_000051.4(ATM):c.8580T>C (p.Ser2860=) rs1591265841
NM_000051.4(ATM):c.8584+11dup
NM_000051.4(ATM):c.8584+12G>A
NM_000051.4(ATM):c.8584+12G>C rs2137039977
NM_000051.4(ATM):c.8584+12del rs2137040055
NM_000051.4(ATM):c.8584+13T>G
NM_000051.4(ATM):c.8584+14A>G
NM_000051.4(ATM):c.8584+15C>G
NM_000051.4(ATM):c.8584+15_8584+20del rs2137040215
NM_000051.4(ATM):c.8584+15dup rs2137040530
NM_000051.4(ATM):c.8584+16A>C rs1322889530
NM_000051.4(ATM):c.8584+17T>C
NM_000051.4(ATM):c.8584+18A>G rs2137040788
NM_000051.4(ATM):c.8584+19del rs2137040977
NM_000051.4(ATM):c.8584+20_8584+36del
NM_000051.4(ATM):c.8584+7T>C rs1374271708
NM_000051.4(ATM):c.8584+7T>G rs1374271708
NM_000051.4(ATM):c.8584+9_8584+11del rs1064794534
NM_000051.4(ATM):c.8584+9del rs1565564405
NM_000051.4(ATM):c.8585-11T>C
NM_000051.4(ATM):c.8585-11T>G rs752428743
NM_000051.4(ATM):c.8585-12T>C
NM_000051.4(ATM):c.8585-13C>G
NM_000051.4(ATM):c.8585-14T>A
NM_000051.4(ATM):c.8585-14T>G
NM_000051.4(ATM):c.8585-16T>A rs2137076895
NM_000051.4(ATM):c.8585-17G>A
NM_000051.4(ATM):c.8585-17G>C
NM_000051.4(ATM):c.8585-17_8585-14del rs764013510
NM_000051.4(ATM):c.8585-18T>C
NM_000051.4(ATM):c.8585-19T>C rs2137076742
NM_000051.4(ATM):c.8585-4C>G rs1555139447
NM_000051.4(ATM):c.8585-4C>T rs1555139447
NM_000051.4(ATM):c.8585-5T>G
NM_000051.4(ATM):c.8585-6C>T rs2137077591
NM_000051.4(ATM):c.8585-7T>C
NM_000051.4(ATM):c.8585-8T>C rs2137077459
NM_000051.4(ATM):c.8585-9T>C rs2137077383
NM_000051.4(ATM):c.8589T>A (p.Gly2863=)
NM_000051.4(ATM):c.8589T>C (p.Gly2863=) rs1409265866
NM_000051.4(ATM):c.8598T>C (p.Leu2866=)
NM_000051.4(ATM):c.8601A>G (p.Gly2867=) rs1565567027
NM_000051.4(ATM):c.8604T>G (p.Leu2868=) rs2088545756
NM_000051.4(ATM):c.8607T>G (p.Gly2869=)
NM_000051.4(ATM):c.8610T>C (p.Asp2870=) rs1370524851
NM_000051.4(ATM):c.8616T>C (p.His2872=)
NM_000051.4(ATM):c.8628C>A (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8628C>T (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.4(ATM):c.8637T>C (p.Asn2879=)
NM_000051.4(ATM):c.864T>C (p.Tyr288=)
NM_000051.4(ATM):c.8655T>C (p.Leu2885=) rs1555139640
NM_000051.4(ATM):c.8658A>C (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8658A>T (p.Val2886=) rs1377662728
NM_000051.4(ATM):c.8661T>C (p.His2887=)
NM_000051.4(ATM):c.8668C>T (p.Leu2890=) rs587779874
NM_000051.4(ATM):c.8671+13A>G
NM_000051.4(ATM):c.8671+15C>G rs1438943849
NM_000051.4(ATM):c.8671+19G>A
NM_000051.4(ATM):c.8671+19G>T rs1308810219
NM_000051.4(ATM):c.8671+20T>C rs1057521774
NM_000051.4(ATM):c.8671+9T>C rs200190537
NM_000051.4(ATM):c.8672-11C>G rs2089488144
NM_000051.4(ATM):c.8672-20C>A
NM_000051.4(ATM):c.8672-5T>C rs1591306315
NM_000051.4(ATM):c.8672-6C>T
NM_000051.4(ATM):c.8672-7A>G rs2137284033
NM_000051.4(ATM):c.8672-7A>T
NM_000051.4(ATM):c.8672-8T>C
NM_000051.4(ATM):c.8672-9T>C rs2137283941
NM_000051.4(ATM):c.867C>A (p.Ile289=)
NM_000051.4(ATM):c.8691C>A (p.Gly2897=) rs1555142814
NM_000051.4(ATM):c.8700T>C (p.Leu2900=) rs2137288094
NM_000051.4(ATM):c.8706T>C (p.Thr2902=) rs1555142824
NM_000051.4(ATM):c.8712G>A (p.Glu2904=) rs1349488841
NM_000051.4(ATM):c.8715A>C (p.Thr2905=)
NM_000051.4(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.4(ATM):c.8718T>A (p.Val2906=) rs1591306810
NM_000051.4(ATM):c.8727A>G (p.Arg2909=)
NM_000051.4(ATM):c.8730C>A (p.Leu2910=) rs551041839
NM_000051.4(ATM):c.8730C>T (p.Leu2910=)
NM_000051.4(ATM):c.8733C>A (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8733C>T (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8739T>C (p.Asp2913=) rs764778912
NM_000051.4(ATM):c.873T>C (p.His291=) rs1591504717
NM_000051.4(ATM):c.8748T>C (p.Asp2916=) rs2137293260
NM_000051.4(ATM):c.8751C>G (p.Gly2917=) rs779858366
NM_000051.4(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8763G>T (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8766T>C (p.Gly2922=) rs1166849874
NM_000051.4(ATM):c.8769T>C (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.8769T>G (p.Val2923=) rs1591307335
NM_000051.4(ATM):c.876G>T (p.Pro292=) rs755860432
NM_000051.4(ATM):c.8781C>T (p.Phe2927=) rs2137297059
NM_000051.4(ATM):c.8784A>G (p.Arg2928=) rs1565579622
NM_000051.4(ATM):c.8786+10A>G rs1591307673
NM_000051.4(ATM):c.8786+11T>A
NM_000051.4(ATM):c.8786+11T>G rs368627124
NM_000051.4(ATM):c.8786+14A>C rs2137299188
NM_000051.4(ATM):c.8786+14A>G rs2137299188
NM_000051.4(ATM):c.8786+16T>A
NM_000051.4(ATM):c.8786+16T>C rs1057521277
NM_000051.4(ATM):c.8786+16T>G rs1057521277
NM_000051.4(ATM):c.8786+17A>G
NM_000051.4(ATM):c.8786+19del rs730881307
NM_000051.4(ATM):c.8786+20G>A rs56283878
NM_000051.4(ATM):c.8786+5_8786+9dup rs2137298148
NM_000051.4(ATM):c.8786+6_8786+9dup rs1312735736
NM_000051.4(ATM):c.8786+7G>A rs1555142923
NM_000051.4(ATM):c.8786+8A>G rs4986839
NM_000051.4(ATM):c.8786+9T>C rs1060504271
NM_000051.4(ATM):c.8787-11_8787-8dup
NM_000051.4(ATM):c.8787-12G>C rs1565582204
NM_000051.4(ATM):c.8787-14G>T
NM_000051.4(ATM):c.8787-17_8787-15del rs1349996464
NM_000051.4(ATM):c.8787-19A>G rs1555143457
NM_000051.4(ATM):c.8787-20T>A rs1352666899
NM_000051.4(ATM):c.8787-5T>C rs1479499265
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8787-7A>G rs1591313741
NM_000051.4(ATM):c.8787-9dup
NM_000051.4(ATM):c.8790C>T (p.Cys2930=) rs1565582275
NM_000051.4(ATM):c.87A>G (p.Lys29=) rs1591446799
NM_000051.4(ATM):c.8802C>G (p.Thr2934=) rs1565582354
NM_000051.4(ATM):c.8811G>A (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8811G>T (p.Val2937=) rs1591314147
NM_000051.4(ATM):c.8823T>C (p.Ser2941=) rs1060504288
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)
NM_000051.4(ATM):c.8833C>T (p.Leu2945=) rs786203505
NM_000051.4(ATM):c.8841C>G (p.Thr2947=) rs2137353155
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)
NM_000051.4(ATM):c.8850+13A>G rs2089708352
NM_000051.4(ATM):c.8850+13dup
NM_000051.4(ATM):c.8850+14T>C rs1294857465
NM_000051.4(ATM):c.8850+18G>A rs969877924
NM_000051.4(ATM):c.8850+20A>C rs2137357318
NM_000051.4(ATM):c.8850+6G>A rs2089704921
NM_000051.4(ATM):c.8850+7T>C rs2137355586
NM_000051.4(ATM):c.8850+9T>G rs571828498
NM_000051.4(ATM):c.8851-10C>G rs1057521676
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000051.4(ATM):c.8851-10_8851-7del rs1591384042
NM_000051.4(ATM):c.8851-12C>G
NM_000051.4(ATM):c.8851-15G>A rs1222455348
NM_000051.4(ATM):c.8851-15dup rs1565607238
NM_000051.4(ATM):c.8851-16T>C rs1565607217
NM_000051.4(ATM):c.8851-17A>G rs2091194046
NM_000051.4(ATM):c.8851-18T>C
NM_000051.4(ATM):c.8851-20C>T
NM_000051.4(ATM):c.8851-6G>C rs777096209
NM_000051.4(ATM):c.8851-6_8851-3dup
NM_000051.4(ATM):c.8853C>G (p.Val2951=) rs878853552
NM_000051.4(ATM):c.8853C>T (p.Val2951=)
NM_000051.4(ATM):c.8856T>C (p.Leu2952=)
NM_000051.4(ATM):c.885C>T (p.Ala295=) rs2135243805
NM_000051.4(ATM):c.8868A>C (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8868A>T (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8871C>T (p.Leu2957=)
NM_000051.4(ATM):c.8877C>T (p.Asp2959=)
NM_000051.4(ATM):c.8889T>C (p.Asn2963=) rs1476881353
NM_000051.4(ATM):c.888A>G (p.Lys296=) rs1023530965
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8901T>A (p.Ala2967=)
NM_000051.4(ATM):c.8919G>A (p.Arg2973=) rs786203613
NM_000051.4(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.4(ATM):c.891C>T (p.Thr297=)
NM_000051.4(ATM):c.8928T>C (p.Asp2976=) rs786202343
NM_000051.4(ATM):c.8934T>C (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8934T>G (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.4(ATM):c.8946T>C (p.Pro2982=) rs780572651
NM_000051.4(ATM):c.894A>G (p.Gln298=)
NM_000051.4(ATM):c.8950C>T (p.Leu2984=) rs747445236
NM_000051.4(ATM):c.8952G>A (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>C (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8952G>T (p.Leu2984=) rs2137884197
NM_000051.4(ATM):c.8958A>C (p.Ala2986=) rs863224567
NM_000051.4(ATM):c.8958A>T (p.Ala2986=)
NM_000051.4(ATM):c.8967A>G (p.Gln2989=) rs876659033
NM_000051.4(ATM):c.8979A>C (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.8979A>G (p.Arg2993=) rs1042288533
NM_000051.4(ATM):c.897A>G (p.Glu299=) rs2135244327
NM_000051.4(ATM):c.8982T>C (p.Asn2994=) rs2137888159
NM_000051.4(ATM):c.8985C>T (p.Leu2995=) rs771675608
NM_000051.4(ATM):c.8987+10A>G rs1060504308
NM_000051.4(ATM):c.8987+11T>G rs1555151554
NM_000051.4(ATM):c.8987+12T>C
NM_000051.4(ATM):c.8987+13T>C
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.8987+6_8987+17dup
NM_000051.4(ATM):c.8987+7A>G
NM_000051.4(ATM):c.8987+8G>C rs2137889967
NM_000051.4(ATM):c.8987+9T>C
NM_000051.4(ATM):c.8988-10T>C rs2137901897
NM_000051.4(ATM):c.8988-12T>A rs1370262422
NM_000051.4(ATM):c.8988-13T>A
NM_000051.4(ATM):c.8988-13T>C rs756571175
NM_000051.4(ATM):c.8988-13T>G rs756571175
NM_000051.4(ATM):c.8988-14G>A
NM_000051.4(ATM):c.8988-16G>A
NM_000051.4(ATM):c.8988-17dup rs2137900748
NM_000051.4(ATM):c.8988-18T>G
NM_000051.4(ATM):c.8988-18_8988-17del
NM_000051.4(ATM):c.8988-19T>C rs2137900568
NM_000051.4(ATM):c.8988-5C>T rs1591386387
NM_000051.4(ATM):c.8988-6C>T
NM_000051.4(ATM):c.8988-7T>A rs1487809821
NM_000051.4(ATM):c.8988-8G>A rs1555151666
NM_000051.4(ATM):c.8988-9T>C rs2137902045
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)
NM_000051.4(ATM):c.901+11A>T
NM_000051.4(ATM):c.901+14G>A rs2079777585
NM_000051.4(ATM):c.901+15T>A rs2135244985
NM_000051.4(ATM):c.901+17T>A
NM_000051.4(ATM):c.901+17T>C rs774302699
NM_000051.4(ATM):c.901+18A>G rs1555067368
NM_000051.4(ATM):c.901+20T>C rs2135245162
NM_000051.4(ATM):c.901+6A>C rs1555067357
NM_000051.4(ATM):c.901+7A>C
NM_000051.4(ATM):c.901+8G>A rs1468806933
NM_000051.4(ATM):c.9012A>G (p.Lys3004=) rs2137907131
NM_000051.4(ATM):c.9018T>C (p.Ala3006=) rs2091236849
NM_000051.4(ATM):c.902-10T>C rs2135264378
NM_000051.4(ATM):c.902-15T>C rs2135264272
NM_000051.4(ATM):c.902-17A>T
NM_000051.4(ATM):c.902-18T>C
NM_000051.4(ATM):c.902-20T>G
NM_000051.4(ATM):c.902-7A>G rs2135264458
NM_000051.4(ATM):c.902-8G>T
NM_000051.4(ATM):c.9021A>G (p.Glu3007=)
NM_000051.4(ATM):c.9024T>C (p.Arg3008=) rs876658179
NM_000051.4(ATM):c.9027C>G (p.Val3009=) rs1200351979
NM_000051.4(ATM):c.9028T>C (p.Leu3010=)
NM_000051.4(ATM):c.9039A>G (p.Leu3013=) rs876659127
NM_000051.4(ATM):c.903T>A (p.Gly301=) rs876659335
NM_000051.4(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.4(ATM):c.9042A>G (p.Gln3014=) rs1060504291
NM_000051.4(ATM):c.9048A>G (p.Lys3016=) rs553001467
NM_000051.4(ATM):c.9051G>A (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9051G>C (p.Leu3017=) rs1467393169
NM_000051.4(ATM):c.9060G>A (p.Val3020=) rs864622625
NM_000051.4(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.4(ATM):c.9078C>G (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9078C>T (p.Leu3026=) rs901284125
NM_000051.4(ATM):c.9081T>C (p.Ser3027=) rs2091248229
NM_000051.4(ATM):c.9084T>C (p.Val3028=) rs786203210
NM_000051.4(ATM):c.9096G>A (p.Val3032=) rs1565609478
NM_000051.4(ATM):c.9096G>C (p.Val3032=)
NM_000051.4(ATM):c.909T>C (p.Tyr303=) rs1555068288
NM_000051.4(ATM):c.9100T>C (p.Leu3034=) rs2091251592
NM_000051.4(ATM):c.9102G>A (p.Leu3034=)
NM_000051.4(ATM):c.9105C>T (p.Leu3035=)
NM_000051.4(ATM):c.9108A>C (p.Ile3036=)
NM_000051.4(ATM):c.9117C>T (p.Ala3039=) rs1289926943
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_000051.4(ATM):c.9144T>A (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9144T>C (p.Leu3048=) rs2137927802
NM_000051.4(ATM):c.9150A>G (p.Pro3050=) rs2137928625
NM_000051.4(ATM):c.9153A>C (p.Gly3051=) rs1555152080
NM_000051.4(ATM):c.9159A>G (p.Lys3053=) rs1060504315
NM_000051.4(ATM):c.915A>C (p.Ser305=)
NM_000051.4(ATM):c.9168G>A (p.Val3056=) rs1591388522
NM_000051.4(ATM):c.9170G>A (p.Ter3057=)
NM_000051.4(ATM):c.925A>C (p.Arg309=) rs876659841
NM_000051.4(ATM):c.927A>G (p.Arg309=) rs935834518
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.939C>T (p.Tyr313=) rs1387179773
NM_000051.4(ATM):c.943T>C (p.Leu315=)
NM_000051.4(ATM):c.948T>C (p.Tyr316=) rs775091961
NM_000051.4(ATM):c.951T>C (p.Asp317=)
NM_000051.4(ATM):c.957A>G (p.Leu319=) rs1060501542
NM_000051.4(ATM):c.963T>C (p.Asn321=) rs863224301
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.99G>C (p.Leu33=)
NM_000051.4(ATM):c.9A>G (p.Leu3=) rs1555053869

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