ClinVar Miner

List of variants in gene POLE studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 878
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.4445-33C>T rs5744942 0.05559
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_006231.4(POLE):c.5379-27G>A rs5744965 0.01498
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.6330+19G>A rs5745025 0.01268
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.5811+46G>A rs5744992 0.01076
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_006231.4(POLE):c.1795-22C>T rs5744797 0.00955
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_006231.4(POLE):c.6658-38C>T rs144237037 0.00436
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg) rs116323660 0.00402
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_006231.4(POLE):c.3459+22C>T rs5744887 0.00320
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_006231.4(POLE):c.6658-25G>A rs5745080 0.00299
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_006231.4(POLE):c.2468+31T>C rs5744824 0.00268
NM_006231.4(POLE):c.3583-31T>C rs5744899 0.00250
NM_006231.4(POLE):c.4149+42C>T rs139763727 0.00245
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_006231.4(POLE):c.5811+13C>T rs150195182 0.00190
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00101
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_006231.4(POLE):c.5379-28C>T rs5744964 0.00093
NM_006231.4(POLE):c.1924-23A>G rs201098665 0.00091
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3747G>A (p.Val1249=) rs80290414 0.00080
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006231.4(POLE):c.6004+43C>T rs202115116 0.00057
NM_006231.4(POLE):c.2173+48C>A rs375204111 0.00055
NM_006231.4(POLE):c.4534G>A (p.Val1512Ile) rs147354120 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_006231.4(POLE):c.63-14C>T rs373998767 0.00048
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.3881G>A (p.Arg1294His) rs115455318 0.00041
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_006231.4(POLE):c.3275+42A>G rs370319609 0.00038
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.*18G>T rs573406234 0.00034
NM_006231.4(POLE):c.1359+19G>A rs375000942 0.00034
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006231.4(POLE):c.6795C>T (p.Tyr2265=) rs142222159 0.00030
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_006231.4(POLE):c.2320-28A>C rs199693164 0.00028
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.1020+29C>T rs369332806 0.00027
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.2865-39C>A rs376216671 0.00025
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.761C>T (p.Pro254Leu) rs200211438 0.00023
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
NM_006231.4(POLE):c.519C>T (p.Ala173=) rs187690610 0.00021
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.5811+26G>A rs202120601 0.00021
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_006231.4(POLE):c.2781C>T (p.Asn927=) rs775486303 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006231.4(POLE):c.6006G>A (p.Ala2002=) rs146902214 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_006231.4(POLE):c.4952+10G>A rs376828693 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.5173+18C>T rs201587262 0.00017
NM_006231.4(POLE):c.6747+39C>T rs200926632 0.00017
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006231.4(POLE):c.609T>C (p.Asp203=) rs1057522410 0.00016
NM_006231.4(POLE):c.6331-24C>T rs201573387 0.00016
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_006231.4(POLE):c.3460-34G>A rs183039142 0.00015
NM_006231.4(POLE):c.6576G>A (p.Ala2192=) rs368555884 0.00015
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.1740C>T (p.His580=) rs114972594 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.6657+9T>C rs375333174 0.00014
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1227-49G>A rs373243003 0.00012
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val) rs776534749 0.00012
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 0.00012
NM_006231.4(POLE):c.1226+13G>A rs577646338 0.00011
NM_006231.4(POLE):c.1590C>T (p.Asp530=) rs1040269464 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_006231.4(POLE):c.3763T>C (p.Leu1255=) rs745838504 0.00011
NM_006231.4(POLE):c.3795+15T>G rs375745403 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.5898G>A (p.Glu1966=) rs372044043 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.4150-17C>T rs758539843 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.556G>A (p.Ala186Thr) rs375213599 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.6532-20C>T rs367726448 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.718G>A (p.Val240Met) rs371882716 0.00010
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.4005+20G>A rs775205537 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.4055G>C (p.Gly1352Ala) rs147088333 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.4719C>T (p.Leu1573=) rs115219846 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.2481C>T (p.Tyr827=) rs149513974 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.4101C>T (p.Tyr1367=) rs780694561 0.00008
NM_006231.4(POLE):c.5220C>T (p.Leu1740=) rs746085748 0.00008
NM_006231.4(POLE):c.2172G>A (p.Ala724=) rs372240734 0.00007
NM_006231.4(POLE):c.2346C>T (p.Ala782=) rs114642756 0.00007
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met) rs531705054 0.00007
NM_006231.4(POLE):c.4206G>A (p.Val1402=) rs773786700 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006231.4(POLE):c.6111C>T (p.Ala2037=) rs541439106 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1707C>T (p.Phe569=) rs147438050 0.00006
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006231.4(POLE):c.1795-48G>A rs202069042 0.00006
NM_006231.4(POLE):c.2026+50G>A rs374062368 0.00006
NM_006231.4(POLE):c.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006231.4(POLE):c.3061-15A>G rs754528052 0.00006
NM_006231.4(POLE):c.3459+8C>T rs375852759 0.00006
NM_006231.4(POLE):c.4444+18C>T rs780605858 0.00006
NM_006231.4(POLE):c.4444+19G>A rs368659272 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.6039C>T (p.Asp2013=) rs371563366 0.00006
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.6810C>T (p.Leu2270=) rs757092767 0.00006
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.3801A>G (p.Glu1267=) rs369436095 0.00005
NM_006231.4(POLE):c.4952+11T>A rs779889181 0.00005
NM_006231.4(POLE):c.5085T>C (p.Gly1695=) rs755191548 0.00005
NM_006231.4(POLE):c.5253C>T (p.Ala1751=) rs765888059 0.00005
NM_006231.4(POLE):c.5742T>C (p.Leu1914=) rs541999794 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu) rs781360770 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006231.4(POLE):c.1560A>G (p.Gln520=) rs201841065 0.00004
NM_006231.4(POLE):c.2174-15C>T rs750771177 0.00004
NM_006231.4(POLE):c.2178C>T (p.Tyr726=) rs915331738 0.00004
NM_006231.4(POLE):c.2468+19G>A rs768950827 0.00004
NM_006231.4(POLE):c.2763C>T (p.Tyr921=) rs767254003 0.00004
NM_006231.4(POLE):c.2879A>G (p.Asn960Ser) rs746311547 0.00004
NM_006231.4(POLE):c.3275+16A>G rs5744858 0.00004
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.3459+13T>G rs372587100 0.00004
NM_006231.4(POLE):c.3534C>T (p.Tyr1178=) rs370133842 0.00004
NM_006231.4(POLE):c.3595G>A (p.Glu1199Lys) rs1012418859 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4149+12C>G rs566422403 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4551+11G>A rs769356284 0.00004
NM_006231.4(POLE):c.4552-11C>T rs202176361 0.00004
NM_006231.4(POLE):c.4556G>A (p.Arg1519His) rs376530977 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.5007C>T (p.Ser1669=) rs146761597 0.00004
NM_006231.4(POLE):c.5106C>T (p.Asn1702=) rs116001373 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.5515C>T (p.Arg1839Cys) rs141519273 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.5811+12G>A rs765804223 0.00004
NM_006231.4(POLE):c.6012C>T (p.Ile2004=) rs147806951 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.828T>C (p.Ile276=) rs878854897 0.00004
NM_006231.4(POLE):c.834G>A (p.Thr278=) rs758368160 0.00004
NM_006231.4(POLE):c.863C>G (p.Ala288Gly) rs771619667 0.00004
NM_006231.4(POLE):c.1110A>G (p.Pro370=) rs772386963 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.1371G>A (p.Thr457=) rs753216372 0.00003
NM_006231.4(POLE):c.1389T>C (p.Ala463=) rs1014643567 0.00003
NM_006231.4(POLE):c.1471G>A (p.Glu491Lys) rs776770625 0.00003
NM_006231.4(POLE):c.1473+42C>T rs145932396 0.00003
NM_006231.4(POLE):c.1473+43C>T rs144166399 0.00003
NM_006231.4(POLE):c.1596C>T (p.His532=) rs114978673 0.00003
NM_006231.4(POLE):c.1795-14C>T rs369023182 0.00003
NM_006231.4(POLE):c.1837G>A (p.Val613Ile) rs200471266 0.00003
NM_006231.4(POLE):c.2271C>T (p.Thr757=) rs765532123 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.3065C>T (p.Ala1022Val) rs756998826 0.00003
NM_006231.4(POLE):c.3417C>T (p.Ser1139=) rs762838377 0.00003
NM_006231.4(POLE):c.3582+5C>T rs775661457 0.00003
NM_006231.4(POLE):c.4091G>A (p.Arg1364His) rs369171111 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.4125G>A (p.Ala1375=) rs374210113 0.00003
NM_006231.4(POLE):c.424-10C>T rs748433747 0.00003
NM_006231.4(POLE):c.424-20G>A rs781020097 0.00003
NM_006231.4(POLE):c.4269C>T (p.Ile1423=) rs761413102 0.00003
NM_006231.4(POLE):c.4290+20C>T rs768700204 0.00003
NM_006231.4(POLE):c.4380A>G (p.Ala1460=) rs758830037 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.4551+18C>T rs747006780 0.00003
NM_006231.4(POLE):c.5001C>T (p.Phe1667=) rs112358554 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006231.4(POLE):c.5339C>G (p.Ala1780Gly) rs1024088828 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.5553-22G>A rs765357630 0.00003
NM_006231.4(POLE):c.5609G>A (p.Arg1870His) rs758619238 0.00003
NM_006231.4(POLE):c.5730C>G (p.Cys1910Trp) rs549163600 0.00003
NM_006231.4(POLE):c.579-18T>C rs1056677187 0.00003
NM_006231.4(POLE):c.5988C>T (p.Phe1996=) rs756828876 0.00003
NM_006231.4(POLE):c.6068C>T (p.Thr2023Ile) rs771628123 0.00003
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=) rs201656807 0.00003
NM_006231.4(POLE):c.6392G>A (p.Arg2131His) rs141954509 0.00003
NM_006231.4(POLE):c.6804G>A (p.Ser2268=) rs544223319 0.00003
NM_006231.4(POLE):c.6818C>T (p.Thr2273Ile) rs779145729 0.00003
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.1089C>T (p.Asn363=) rs146639652 0.00002
NM_006231.4(POLE):c.1227-8C>T rs537816213 0.00002
NM_006231.4(POLE):c.1277C>T (p.Ala426Val) rs374920539 0.00002
NM_006231.4(POLE):c.1360-14C>T rs757413516 0.00002
NM_006231.4(POLE):c.1474-14G>T rs756438835 0.00002
NM_006231.4(POLE):c.1533C>T (p.His511=) rs545378475 0.00002
NM_006231.4(POLE):c.1836C>T (p.Asp612=) rs116456858 0.00002
NM_006231.4(POLE):c.1923+15C>A rs763092591 0.00002
NM_006231.4(POLE):c.2027-11C>T rs1555227287 0.00002
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091 0.00002
NM_006231.4(POLE):c.2343G>A (p.Ala781=) rs199751241 0.00002
NM_006231.4(POLE):c.2527A>G (p.Ile843Val) rs780758461 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.3270G>A (p.Thr1090=) rs758258927 0.00002
NM_006231.4(POLE):c.3379-17G>A rs907214942 0.00002
NM_006231.4(POLE):c.3489C>T (p.His1163=) rs5744888 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3738G>A (p.Thr1246=) rs545161424 0.00002
NM_006231.4(POLE):c.3777C>T (p.Pro1259=) rs770904877 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.4006-15C>T rs751257970 0.00002
NM_006231.4(POLE):c.4026C>T (p.Ala1342=) rs764030317 0.00002
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304 0.00002
NM_006231.4(POLE):c.4900C>T (p.Arg1634Cys) rs769762523 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.552C>T (p.Ser184=) rs878854884 0.00002
NM_006231.4(POLE):c.553G>A (p.Asp185Asn) rs369506007 0.00002
NM_006231.4(POLE):c.5658C>T (p.Tyr1886=) rs369346799 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.579-15C>G rs368482979 0.00002
NM_006231.4(POLE):c.6137-7C>T rs1057523210 0.00002
NM_006231.4(POLE):c.626A>G (p.Lys209Arg) rs754559038 0.00002
NM_006231.4(POLE):c.6328A>G (p.Lys2110Glu) rs746736600 0.00002
NM_006231.4(POLE):c.6417C>T (p.Ser2139=) rs766935890 0.00002
NM_006231.4(POLE):c.6432C>T (p.Phe2144=) rs775605353 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys) rs369549727 0.00002
NM_006231.4(POLE):c.6531+46C>T rs1330290276 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.6658-18G>A rs575414442 0.00002
NM_006231.4(POLE):c.6803C>T (p.Ser2268Leu) rs373791036 0.00002
NM_006231.4(POLE):c.850A>G (p.Lys284Glu) rs568483856 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006231.4(POLE):c.910-5G>A rs750101293 0.00002
NM_006231.4(POLE):c.1019A>T (p.Glu340Val) rs895236041 0.00001
NM_006231.4(POLE):c.1050C>T (p.His350=) rs752171701 0.00001
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746 0.00001
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1107-3C>T rs369572563 0.00001
NM_006231.4(POLE):c.1197G>A (p.Ala399=) rs1000162996 0.00001
NM_006231.4(POLE):c.1226+40G>A rs370594302 0.00001
NM_006231.4(POLE):c.1227-29C>T rs762128600 0.00001
NM_006231.4(POLE):c.1260C>T (p.Gly420=) rs1057523868 0.00001
NM_006231.4(POLE):c.1280C>T (p.Ala427Val) rs878854841 0.00001
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1326G>A (p.Glu442=) rs745411507 0.00001
NM_006231.4(POLE):c.1359+4C>T rs752118019 0.00001
NM_006231.4(POLE):c.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1392C>T (p.Val464=) rs772578799 0.00001
NM_006231.4(POLE):c.1419C>T (p.Tyr473=) rs369961557 0.00001
NM_006231.4(POLE):c.1468G>A (p.Asp490Asn) rs755463796 0.00001
NM_006231.4(POLE):c.1474-7C>T rs1172867643 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.1617C>T (p.Tyr539=) rs775930793 0.00001
NM_006231.4(POLE):c.1642G>A (p.Glu548Lys) rs908638591 0.00001
NM_006231.4(POLE):c.1687-17T>C rs1026163395 0.00001
NM_006231.4(POLE):c.1687-39T>G rs376101669 0.00001
NM_006231.4(POLE):c.1687-4C>G rs375705244 0.00001
NM_006231.4(POLE):c.1736G>A (p.Arg579His) rs149296223 0.00001
NM_006231.4(POLE):c.1737C>T (p.Arg579=) rs1057523317 0.00001
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe) rs761273376 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.1794+16G>A rs770818395 0.00001
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys) rs752076074 0.00001
NM_006231.4(POLE):c.1851C>T (p.Ile617=) rs1338582924 0.00001
NM_006231.4(POLE):c.1872C>T (p.His624=) rs368789955 0.00001
NM_006231.4(POLE):c.1923+18G>A rs1387507213 0.00001
NM_006231.4(POLE):c.1924-5C>T rs878854846 0.00001
NM_006231.4(POLE):c.1924-8C>T rs530352468 0.00001
NM_006231.4(POLE):c.1926C>T (p.Pro642=) rs779747873 0.00001
NM_006231.4(POLE):c.2026+10G>A rs1282226694 0.00001
NM_006231.4(POLE):c.2061G>A (p.Gln687=) rs1400021883 0.00001
NM_006231.4(POLE):c.2173+9C>T rs1056554121 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2193C>T (p.Tyr731=) rs769596366 0.00001
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn) rs749305408 0.00001
NM_006231.4(POLE):c.2217G>A (p.Val739=) rs374750963 0.00001
NM_006231.4(POLE):c.2244G>A (p.Gln748=) rs1057522980 0.00001
NM_006231.4(POLE):c.2319+19C>T rs370320759 0.00001
NM_006231.4(POLE):c.2320-33C>G rs764670001 0.00001
NM_006231.4(POLE):c.2320-41G>A rs550421855 0.00001
NM_006231.4(POLE):c.2320-8C>T rs745933620 0.00001
NM_006231.4(POLE):c.2322G>A (p.Val774=) rs1057524564 0.00001
NM_006231.4(POLE):c.2342C>T (p.Ala781Val) rs1060500855 0.00001
NM_006231.4(POLE):c.2358C>T (p.Gly786=) rs1278181584 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.2377C>T (p.Arg793Cys) rs376624527 0.00001
NM_006231.4(POLE):c.2398C>T (p.Leu800=) rs1333910199 0.00001
NM_006231.4(POLE):c.2463C>T (p.Arg821=) rs751392565 0.00001
NM_006231.4(POLE):c.2468+18C>T rs748559369 0.00001
NM_006231.4(POLE):c.2561+14G>A rs912028278 0.00001
NM_006231.4(POLE):c.2562-20G>C rs557791800 0.00001
NM_006231.4(POLE):c.2640G>A (p.Thr880=) rs1057521163 0.00001
NM_006231.4(POLE):c.2662G>A (p.Val888Met) rs1314058108 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.2682C>T (p.Gly894=) rs757453683 0.00001
NM_006231.4(POLE):c.2706+10G>A rs372609836 0.00001
NM_006231.4(POLE):c.2706+19G>A rs777067793 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.272G>A (p.Gly91Glu) rs376348304 0.00001
NM_006231.4(POLE):c.285+17G>A rs5744736 0.00001
NM_006231.4(POLE):c.285+30C>T rs184271897 0.00001
NM_006231.4(POLE):c.286-14G>C rs373822280 0.00001
NM_006231.4(POLE):c.2864+3G>A rs1060500856 0.00001
NM_006231.4(POLE):c.2864+8T>C rs878854856 0.00001
NM_006231.4(POLE):c.2864+9C>T rs780578558 0.00001
NM_006231.4(POLE):c.2964G>A (p.Ser988=) rs200080353 0.00001
NM_006231.4(POLE):c.2982C>T (p.Leu994=) rs771463033 0.00001
NM_006231.4(POLE):c.3060+16C>T rs1428999721 0.00001
NM_006231.4(POLE):c.3061-10C>G rs750269574 0.00001
NM_006231.4(POLE):c.3108C>T (p.Asn1036=) rs772522635 0.00001
NM_006231.4(POLE):c.3138C>T (p.Tyr1046=) rs779628723 0.00001
NM_006231.4(POLE):c.3195A>G (p.Gly1065=) rs1454076563 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys) rs145680387 0.00001
NM_006231.4(POLE):c.3275+38T>C rs5744859 0.00001
NM_006231.4(POLE):c.3308C>A (p.Pro1103His) rs759126051 0.00001
NM_006231.4(POLE):c.331-27A>C rs1365832415 0.00001
NM_006231.4(POLE):c.3333G>A (p.Arg1111=) rs200319525 0.00001
NM_006231.4(POLE):c.3378+11G>C rs1281293430 0.00001
NM_006231.4(POLE):c.3378+15C>T rs574954983 0.00001
NM_006231.4(POLE):c.3447G>A (p.Ala1149=) rs758702382 0.00001
NM_006231.4(POLE):c.3492C>T (p.Pro1164=) rs754348616 0.00001
NM_006231.4(POLE):c.3582+12G>A rs1252638342 0.00001
NM_006231.4(POLE):c.3582+16C>T rs374051195 0.00001
NM_006231.4(POLE):c.3582+7G>A rs558837073 0.00001
NM_006231.4(POLE):c.3588G>A (p.Thr1196=) rs771747587 0.00001
NM_006231.4(POLE):c.3594C>T (p.Ala1198=) rs200803943 0.00001
NM_006231.4(POLE):c.3645C>T (p.Phe1215=) rs758716323 0.00001
NM_006231.4(POLE):c.3695A>C (p.Lys1232Thr) rs774999422 0.00001
NM_006231.4(POLE):c.3861C>T (p.Leu1287=) rs761684406 0.00001
NM_006231.4(POLE):c.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.399T>C (p.Thr133=) rs202102690 0.00001
NM_006231.4(POLE):c.4005+7A>G rs372329585 0.00001
NM_006231.4(POLE):c.4005+8C>A rs762723589 0.00001
NM_006231.4(POLE):c.4006-20A>G rs1057523958 0.00001
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys) rs751555395 0.00001
NM_006231.4(POLE):c.4018A>G (p.Ser1340Gly) rs1248556901 0.00001
NM_006231.4(POLE):c.4100A>G (p.Tyr1367Cys) rs1365073969 0.00001
NM_006231.4(POLE):c.4149+3A>C rs1358505756 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 0.00001
NM_006231.4(POLE):c.4156C>T (p.Arg1386Trp) rs747619107 0.00001
NM_006231.4(POLE):c.4198T>C (p.Tyr1400His) rs761011442 0.00001
NM_006231.4(POLE):c.423+20T>C rs201628896 0.00001
NM_006231.4(POLE):c.4236C>T (p.Asn1412=) rs377245595 0.00001
NM_006231.4(POLE):c.424-50T>C rs1205301176 0.00001
NM_006231.4(POLE):c.4245C>T (p.Asn1415=) rs778896278 0.00001
NM_006231.4(POLE):c.4290+21G>A rs544899153 0.00001
NM_006231.4(POLE):c.4371C>T (p.Gly1457=) rs771489059 0.00001
NM_006231.4(POLE):c.4399C>A (p.His1467Asn) rs753417741 0.00001
NM_006231.4(POLE):c.4411C>T (p.Arg1471Cys) rs528264567 0.00001
NM_006231.4(POLE):c.4445-19G>A rs1396516668 0.00001
NM_006231.4(POLE):c.4445-7T>C rs754001064 0.00001
NM_006231.4(POLE):c.4480C>G (p.Gln1494Glu) rs1443837551 0.00001
NM_006231.4(POLE):c.4490A>G (p.Lys1497Arg) rs557957962 0.00001
NM_006231.4(POLE):c.4551+15C>T rs770422878 0.00001
NM_006231.4(POLE):c.4551+20T>C rs377147295 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4567A>G (p.Met1523Val) rs1209633210 0.00001
NM_006231.4(POLE):c.4581C>T (p.Gly1527=) rs772646117 0.00001
NM_006231.4(POLE):c.4602C>T (p.His1534=) rs749126952 0.00001
NM_006231.4(POLE):c.4659C>T (p.Phe1553=) rs767021717 0.00001
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln) rs762965148 0.00001
NM_006231.4(POLE):c.4716G>A (p.Leu1572=) rs138782478 0.00001
NM_006231.4(POLE):c.4729-12G>A rs765204902 0.00001
NM_006231.4(POLE):c.4789G>A (p.Ala1597Thr) rs752184541 0.00001
NM_006231.4(POLE):c.4827G>A (p.Val1609=) rs770382974 0.00001
NM_006231.4(POLE):c.4863C>G (p.Val1621=) rs1057522227 0.00001
NM_006231.4(POLE):c.4932G>A (p.Ser1644=) rs1057522607 0.00001
NM_006231.4(POLE):c.4934A>G (p.Gln1645Arg) rs878854879 0.00001
NM_006231.4(POLE):c.4952+16T>C rs755998543 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5130C>T (p.Asp1710=) rs1340452589 0.00001
NM_006231.4(POLE):c.5168C>T (p.Ser1723Phe) rs996998835 0.00001
NM_006231.4(POLE):c.5173+11G>A rs201001062 0.00001
NM_006231.4(POLE):c.5174-17G>A rs201254290 0.00001
NM_006231.4(POLE):c.5181G>A (p.Val1727=) rs1057523212 0.00001
NM_006231.4(POLE):c.5205C>T (p.Ala1735=) rs778829972 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile) rs878854882 0.00001
NM_006231.4(POLE):c.5274C>T (p.Phe1758=) rs921653059 0.00001
NM_006231.4(POLE):c.5304C>T (p.Asp1768=) rs747138372 0.00001
NM_006231.4(POLE):c.5346C>T (p.Tyr1782=) rs761902063 0.00001
NM_006231.4(POLE):c.5379-14A>C rs1210105737 0.00001
NM_006231.4(POLE):c.5397C>T (p.Val1799=) rs770069897 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5520A>G (p.Thr1840=) rs778744958 0.00001
NM_006231.4(POLE):c.5552+14C>T rs1367903300 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5572C>T (p.Arg1858Cys) rs1193081581 0.00001
NM_006231.4(POLE):c.557C>T (p.Ala186Val) rs151325267 0.00001
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr) rs896266569 0.00001
NM_006231.4(POLE):c.5678+1G>A rs138748289 0.00001
NM_006231.4(POLE):c.5726G>A (p.Arg1909Gln) rs201455049 0.00001
NM_006231.4(POLE):c.578+47A>G rs1389319633 0.00001
NM_006231.4(POLE):c.579-16T>C rs869312621 0.00001
NM_006231.4(POLE):c.5812-19G>A rs1057524156 0.00001
NM_006231.4(POLE):c.5812-1G>T rs1296022681 0.00001
NM_006231.4(POLE):c.5845G>A (p.Glu1949Lys) rs779394509 0.00001
NM_006231.4(POLE):c.588G>T (p.Gln196His) rs878854886 0.00001
NM_006231.4(POLE):c.5901G>A (p.Ala1967=) rs200474862 0.00001
NM_006231.4(POLE):c.6004+10G>A rs935178604 0.00001
NM_006231.4(POLE):c.6019G>A (p.Val2007Met) rs748106601 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6093C>T (p.Ser2031=) rs934958443 0.00001
NM_006231.4(POLE):c.6136+20T>A rs932585832 0.00001
NM_006231.4(POLE):c.6156G>A (p.Gln2052=) rs149841283 0.00001
NM_006231.4(POLE):c.6196A>G (p.Ile2066Val) rs1266801207 0.00001
NM_006231.4(POLE):c.6201T>C (p.Thr2067=) rs983980599 0.00001
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399 0.00001
NM_006231.4(POLE):c.6273C>T (p.Pro2091=) rs767769851 0.00001
NM_006231.4(POLE):c.6298C>G (p.Pro2100Ala) rs562071800 0.00001
NM_006231.4(POLE):c.6339C>T (p.Ser2113=) rs781680187 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6531+12C>T rs1041511996 0.00001
NM_006231.4(POLE):c.6532-14C>T rs1483343976 0.00001
NM_006231.4(POLE):c.664C>T (p.Arg222Cys) rs767503360 0.00001
NM_006231.4(POLE):c.6657+8G>A rs777791883 0.00001
NM_006231.4(POLE):c.6693C>T (p.Ser2231=) rs1483311551 0.00001
NM_006231.4(POLE):c.6726C>T (p.Phe2242=) rs771312122 0.00001
NM_006231.4(POLE):c.6748-20G>C rs139246810 0.00001
NM_006231.4(POLE):c.6754A>G (p.Met2252Val) rs759660507 0.00001
NM_006231.4(POLE):c.717C>T (p.His239=) rs567612169 0.00001
NM_006231.4(POLE):c.747A>G (p.Arg249=) rs1002061657 0.00001
NM_006231.4(POLE):c.765A>G (p.Val255=) rs898919469 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.797G>T (p.Arg266Leu) rs115786159 0.00001
NM_006231.4(POLE):c.808G>A (p.Val270Met) rs374237142 0.00001
NM_006231.4(POLE):c.833C>T (p.Thr278Met) rs764254754 0.00001
NM_006231.4(POLE):c.841C>T (p.Leu281=) rs765827736 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006231.4(POLE):c.90G>A (p.Ser30=) rs369224511 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.942A>C (p.Ser314=) rs548933169 0.00001
NM_006231.4(POLE):c.996T>C (p.Phe332=) rs779159186 0.00001
NM_006231.4(POLE):c.*23T>G rs2138421481
NM_006231.4(POLE):c.*27C>T
NM_006231.4(POLE):c.1002C>T (p.Val334=) rs1555229284
NM_006231.4(POLE):c.1013C>T (p.Pro338Leu) rs1593078223
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1020+50C>T
NM_006231.4(POLE):c.1020+5_1020+6delinsAA rs1064795707
NM_006231.4(POLE):c.1021-24C>T
NM_006231.4(POLE):c.1021-49C>G
NM_006231.4(POLE):c.104T>A (p.Leu35Gln) rs2043161231
NM_006231.4(POLE):c.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.4(POLE):c.1085A>G (p.Tyr362Cys) rs1368897791
NM_006231.4(POLE):c.1086C>T (p.Tyr362=) rs1555229206
NM_006231.4(POLE):c.1106+12T>C rs781673811
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.4(POLE):c.1145G>A (p.Ser382Asn) rs761600715
NM_006231.4(POLE):c.1226+44G>A
NM_006231.4(POLE):c.1226+50T>C
NM_006231.4(POLE):c.1229G>A (p.Trp410Ter) rs2136000948
NM_006231.4(POLE):c.1231G>C (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1231G>T (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1259G>A (p.Gly420Asp) rs2136000426
NM_006231.4(POLE):c.1264C>G (p.His422Asp) rs745356467
NM_006231.4(POLE):c.1272C>G (p.Leu424=) rs1555228638
NM_006231.4(POLE):c.1306C>T (p.Pro436Ser) rs1565973210
NM_006231.4(POLE):c.1347G>C (p.Thr449=) rs142373951
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.4(POLE):c.1359+22T>C
NM_006231.4(POLE):c.1359+35G>A
NM_006231.4(POLE):c.1359+47_1359+117del rs1565972903
NM_006231.4(POLE):c.1359+50G>C
NM_006231.4(POLE):c.1360-5C>T rs1555228512
NM_006231.4(POLE):c.1440T>C (p.Ala480=) rs1248513702
NM_006231.4(POLE):c.1464G>A (p.Glu488=) rs1012445618
NM_006231.4(POLE):c.1473+7A>G rs1555228439
NM_006231.4(POLE):c.1570T>G (p.Phe524Val) rs1593071029
NM_006231.4(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.4(POLE):c.1686+38T>G
NM_006231.4(POLE):c.1687-10G>A rs1593069617
NM_006231.4(POLE):c.1687-19C>A
NM_006231.4(POLE):c.1687-22C>T rs200687411
NM_006231.4(POLE):c.1687-4C>T rs375705244
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1695C>T (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1739A>G (p.His580Arg)
NM_006231.4(POLE):c.1773G>A (p.Glu591=) rs767933490
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.4(POLE):c.1794+11_1794+12insA rs1555228106
NM_006231.4(POLE):c.1794+35_1794+36del rs368632925
NM_006231.4(POLE):c.1795-29G>T
NM_006231.4(POLE):c.1800TGA[3] (p.Asp601dup) rs1593793500
NM_006231.4(POLE):c.1806G>A (p.Glu602=) rs1057521932
NM_006231.4(POLE):c.180A>G (p.Thr60=) rs1555230398
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.1861C>T (p.Leu621Phe) rs945099471
NM_006231.4(POLE):c.1879G>C (p.Val627Leu) rs747929590
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1916G>A (p.Arg639His) rs754616313
NM_006231.4(POLE):c.1920G>A (p.Leu640=)
NM_006231.4(POLE):c.1923+12C>G rs764448704
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1924-32C>T
NM_006231.4(POLE):c.201T>C (p.His67=) rs1555230391
NM_006231.4(POLE):c.2026+14G>T rs751509566
NM_006231.4(POLE):c.2026+18_2026+62del rs1064795073
NM_006231.4(POLE):c.2026+39C>T
NM_006231.4(POLE):c.2026+42dup
NM_006231.4(POLE):c.2027-12C>T rs767811987
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.2027-40G>A
NM_006231.4(POLE):c.204+8C>G rs749595462
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter) rs2042846526
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2091C>A (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2091C>T (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2096T>A (p.Phe699Tyr) rs2135975452
NM_006231.4(POLE):c.2122C>T (p.His708Tyr) rs1593791799
NM_006231.4(POLE):c.2133C>G (p.Ser711=) rs1368511972
NM_006231.4(POLE):c.2146G>T (p.Ala716Ser)
NM_006231.4(POLE):c.2173+11G>A rs1057522621
NM_006231.4(POLE):c.2173+23G>T rs141477185
NM_006231.4(POLE):c.2203C>T (p.His735Tyr)
NM_006231.4(POLE):c.2205C>T (p.His735=) rs1057523974
NM_006231.4(POLE):c.2213A>G (p.Lys738Arg) rs2135970699
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.2276G>T (p.Arg759Leu) rs746774432
NM_006231.4(POLE):c.2289C>T (p.Asp763=) rs1057521109
NM_006231.4(POLE):c.2292G>A (p.Arg764=) rs1555227097
NM_006231.4(POLE):c.2334G>A (p.Lys778=) rs929596537
NM_006231.4(POLE):c.2356G>A (p.Gly786Ser) rs2042773154
NM_006231.4(POLE):c.2382C>T (p.Cys794=) rs767271169
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2385G>A (p.Lys795=) rs761666105
NM_006231.4(POLE):c.2455G>C (p.Val819Leu) rs1555226692
NM_006231.4(POLE):c.2469-40C>G
NM_006231.4(POLE):c.2478G>T (p.Trp826Cys) rs375426113
NM_006231.4(POLE):c.254A>G (p.Tyr85Cys) rs1565981016
NM_006231.4(POLE):c.2559del (p.Ile853fs) rs2135958060
NM_006231.4(POLE):c.2561+16G>A rs1057523560
NM_006231.4(POLE):c.2561+23G>A
NM_006231.4(POLE):c.2561+42G>T
NM_006231.4(POLE):c.2561+97_2562-48del
NM_006231.4(POLE):c.2569T>C (p.Leu857=) rs763456552
NM_006231.4(POLE):c.2604G>A (p.Leu868=) rs760386245
NM_006231.4(POLE):c.2610C>T (p.Asn870=) rs1057524008
NM_006231.4(POLE):c.2652G>A (p.Lys884=)
NM_006231.4(POLE):c.2656C>T (p.Pro886Ser) rs1393738781
NM_006231.4(POLE):c.2676C>T (p.Tyr892=) rs878854853
NM_006231.4(POLE):c.2697C>T (p.Ile899=) rs1555226416
NM_006231.4(POLE):c.2706+11G>C rs1555226410
NM_006231.4(POLE):c.2706+42G>A rs2135956273
NM_006231.4(POLE):c.2706+44G>A
NM_006231.4(POLE):c.2706+9dup rs1555226409
NM_006231.4(POLE):c.2707-23C>T
NM_006231.4(POLE):c.2784C>T (p.Ser928=) rs1011427549
NM_006231.4(POLE):c.2785A>G (p.Ile929Val) rs765066823
NM_006231.4(POLE):c.285+17G>T rs5744736
NM_006231.4(POLE):c.286-25del
NM_006231.4(POLE):c.286-48G>A
NM_006231.4(POLE):c.2865-17_2865-16dup rs369732588
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-4dup rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.2891C>G (p.Ser964Cys)
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser) rs1480250083
NM_006231.4(POLE):c.2910_2917del (p.Phe971fs) rs2138691662
NM_006231.4(POLE):c.2935C>A (p.Leu979Met)
NM_006231.4(POLE):c.2942T>C (p.Leu981Pro) rs1364597199
NM_006231.4(POLE):c.3027G>T (p.Val1009=) rs1057521358
NM_006231.4(POLE):c.3060+20C>G rs1555225929
NM_006231.4(POLE):c.3082G>A (p.Glu1028Lys) rs2138678777
NM_006231.4(POLE):c.3084G>A (p.Glu1028=) rs1057521764
NM_006231.4(POLE):c.3132A>C (p.Glu1044Asp) rs2138677462
NM_006231.4(POLE):c.3159C>T (p.Ser1053=) rs1057524186
NM_006231.4(POLE):c.3210G>A (p.Lys1070=)
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu) rs201744227
NM_006231.4(POLE):c.3252C>T (p.Pro1084=) rs556962209
NM_006231.4(POLE):c.3264_3275+13dup rs761516512
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006231.4(POLE):c.3275+12_3275+37dup rs1057517627
NM_006231.4(POLE):c.3275+14_3275+21delinsTCATCACT rs1064795121
NM_006231.4(POLE):c.3275+24G>C
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3276-4C>T rs1555225328
NM_006231.4(POLE):c.3279C>T (p.Ala1093=) rs1057521217
NM_006231.4(POLE):c.330+13C>G rs2043137488
NM_006231.4(POLE):c.330+46C>G
NM_006231.4(POLE):c.331-30G>A
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.333T>C (p.Gly111=) rs933506354
NM_006231.4(POLE):c.3363C>T (p.Asp1121=) rs1057522030
NM_006231.4(POLE):c.3379-40del
NM_006231.4(POLE):c.3379-45C>T
NM_006231.4(POLE):c.3459+42T>C
NM_006231.4(POLE):c.3459+44_3459+45del rs758788717
NM_006231.4(POLE):c.3460-43G>C
NM_006231.4(POLE):c.3563C>T (p.Thr1188Ile) rs1565952926
NM_006231.4(POLE):c.3582+16_3582+17inv
NM_006231.4(POLE):c.3582+20G>T rs746745345
NM_006231.4(POLE):c.3582+32G>A
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.3582+9G>A rs1057524057
NM_006231.4(POLE):c.3583-45G>A
NM_006231.4(POLE):c.363C>T (p.Ser121=) rs1555230177
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656
NM_006231.4(POLE):c.3713G>A (p.Ser1238Asn) rs879255392
NM_006231.4(POLE):c.374A>C (p.Gln125Pro) rs1286172788
NM_006231.4(POLE):c.3777C>A (p.Pro1259=) rs770904877
NM_006231.4(POLE):c.3794A>T (p.Gln1265Leu) rs1555224038
NM_006231.4(POLE):c.3795+26_3795+27del
NM_006231.4(POLE):c.3795+31T>C
NM_006231.4(POLE):c.3796-11A>G rs1555223983
NM_006231.4(POLE):c.3796-20G>A rs1057522550
NM_006231.4(POLE):c.3796-34C>T
NM_006231.4(POLE):c.3796-3del rs2138610551
NM_006231.4(POLE):c.3858_3881del (p.Ala1288_Leu1295del) rs759449495
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.4(POLE):c.3921C>A (p.Ile1307=) rs1555223944
NM_006231.4(POLE):c.3990G>T (p.Pro1330=) rs777546371
NM_006231.4(POLE):c.3999T>C (p.Ile1333=) rs929039052
NM_006231.4(POLE):c.405C>T (p.Pro135=) rs1057521357
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738
NM_006231.4(POLE):c.4080G>C (p.Leu1360=) rs1555223858
NM_006231.4(POLE):c.4085T>C (p.Ile1362Thr)
NM_006231.4(POLE):c.4150-16G>T rs375774291
NM_006231.4(POLE):c.4150-36C>G rs755471365
NM_006231.4(POLE):c.4150-37dup
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.4(POLE):c.4204G>A (p.Val1402Met) rs767191767
NM_006231.4(POLE):c.423+42G>A
NM_006231.4(POLE):c.423+82A>G
NM_006231.4(POLE):c.424-21C>T
NM_006231.4(POLE):c.424-44C>T
NM_006231.4(POLE):c.4249G>C (p.Glu1417Gln) rs1593735965
NM_006231.4(POLE):c.4263A>G (p.Pro1421=)
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter) rs575419120
NM_006231.4(POLE):c.427A>G (p.Asn143Asp) rs889470853
NM_006231.4(POLE):c.4286C>T (p.Thr1429Ile) rs2138558151
NM_006231.4(POLE):c.4290+40C>T
NM_006231.4(POLE):c.4291-22C>T rs759282531
NM_006231.4(POLE):c.4291-24G>A
NM_006231.4(POLE):c.4341C>T (p.Val1447=) rs878854870
NM_006231.4(POLE):c.4353G>C (p.Leu1451=) rs769149466
NM_006231.4(POLE):c.4444+10G>T rs761312129
NM_006231.4(POLE):c.4444+9T>C rs1060504072
NM_006231.4(POLE):c.4445-35C>T
NM_006231.4(POLE):c.4445-36A>G
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4492G>A (p.Ala1498Thr) rs757232557
NM_006231.4(POLE):c.4510A>G (p.Ile1504Val)
NM_006231.4(POLE):c.4519_4520del (p.Gln1507fs)
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4529_4530inv (p.Ala1510Val)
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4552-11C>G rs202176361
NM_006231.4(POLE):c.4552-9T>C rs1432965677
NM_006231.4(POLE):c.4642C>T (p.Pro1548Ser) rs1555222725
NM_006231.4(POLE):c.4644C>T (p.Pro1548=) rs1555222721
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4669G>A (p.Ala1557Thr)
NM_006231.4(POLE):c.4689C>T (p.Thr1563=) rs1057522743
NM_006231.4(POLE):c.4708C>A (p.Arg1570=) rs1037592848
NM_006231.4(POLE):c.4729-11C>T rs1555222633
NM_006231.4(POLE):c.4752C>T (p.Leu1584=) rs1057524354
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.4794T>C (p.Ser1598=) rs1555222600
NM_006231.4(POLE):c.4821A>C (p.Pro1607=)
NM_006231.4(POLE):c.4863C>T (p.Val1621=) rs1057522227
NM_006231.4(POLE):c.4877G>T (p.Arg1626Leu) rs766252708
NM_006231.4(POLE):c.4892G>T (p.Arg1631Leu) rs775590365
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.4952+34C>T
NM_006231.4(POLE):c.4952+48G>A
NM_006231.4(POLE):c.4953-38G>A
NM_006231.4(POLE):c.5029C>G (p.Leu1677Val) rs2138530978
NM_006231.4(POLE):c.5037C>A (p.Arg1679=) rs1057523897
NM_006231.4(POLE):c.5066C>T (p.Thr1689Ile)
NM_006231.4(POLE):c.510C>T (p.Ile170=) rs374074035
NM_006231.4(POLE):c.5136C>T (p.Ala1712=) rs1555222447
NM_006231.4(POLE):c.513C>T (p.Ser171=) rs1555230083
NM_006231.4(POLE):c.5157A>T (p.Ser1719=) rs1057523692
NM_006231.4(POLE):c.5173+10C>G rs371098994
NM_006231.4(POLE):c.520G>A (p.Val174Met) rs1250780418
NM_006231.4(POLE):c.5252C>T (p.Ala1751Val) rs1555222349
NM_006231.4(POLE):c.5296del (p.Leu1766fs) rs2138524488
NM_006231.4(POLE):c.5337G>A (p.Pro1779=) rs749991080
NM_006231.4(POLE):c.5354C>T (p.Thr1785Ile) rs1269441689
NM_006231.4(POLE):c.5378+22A>C rs2138522472
NM_006231.4(POLE):c.5378+23G>C
NM_006231.4(POLE):c.5378+9C>G rs1177871620
NM_006231.4(POLE):c.5379-7C>T rs1460370920
NM_006231.4(POLE):c.5484A>G (p.Pro1828=) rs770297218
NM_006231.4(POLE):c.5494C>T (p.Leu1832Phe) rs1456049352
NM_006231.4(POLE):c.549C>A (p.Ala183=) rs1555230075
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.5565G>A (p.Glu1855=) rs1555221780
NM_006231.4(POLE):c.5568C>T (p.Phe1856=) rs1057523481
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.5590A>T (p.Ile1864Phe) rs2042070838
NM_006231.4(POLE):c.5679-22G>A
NM_006231.4(POLE):c.5757A>G (p.Pro1919=) rs1426714579
NM_006231.4(POLE):c.578+42C>T
NM_006231.4(POLE):c.579-3T>C rs1593082215
NM_006231.4(POLE):c.5811+25C>T
NM_006231.4(POLE):c.5820C>T (p.Ser1940=) rs1593712510
NM_006231.4(POLE):c.5888_5914dup (p.Glu1963_Asn1971dup) rs778066364
NM_006231.4(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.4(POLE):c.5972C>G (p.Ser1991Cys) rs1593711899
NM_006231.4(POLE):c.6004+24G>T rs1453853935
NM_006231.4(POLE):c.6005-13T>C rs1555221027
NM_006231.4(POLE):c.600C>T (p.Val200=) rs878854888
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.4(POLE):c.6021G>T (p.Val2007=) rs1057522175
NM_006231.4(POLE):c.6057T>C (p.Ala2019=) rs1057522647
NM_006231.4(POLE):c.6085G>T (p.Gly2029Trp)
NM_006231.4(POLE):c.6137-19A>T rs1057524544
NM_006231.4(POLE):c.6162T>C (p.Tyr2054=) rs1057523175
NM_006231.4(POLE):c.6208A>G (p.Ile2070Val) rs763607284
NM_006231.4(POLE):c.6246G>A (p.Glu2082=) rs772402355
NM_006231.4(POLE):c.6255G>A (p.Glu2085=) rs1057524260
NM_006231.4(POLE):c.63-52CAG[4]
NM_006231.4(POLE):c.6312C>G (p.Phe2104Leu) rs1555220869
NM_006231.4(POLE):c.6330+21G>A
NM_006231.4(POLE):c.6331-37G>A rs539858706
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6368A>C (p.Asn2123Thr) rs2041838354
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6531+15C>T rs1057523088
NM_006231.4(POLE):c.6531+18C>T rs768260829
NM_006231.4(POLE):c.6531+29C>T
NM_006231.4(POLE):c.6532-29G>T
NM_006231.4(POLE):c.654dup (p.Val219fs) rs2136020791
NM_006231.4(POLE):c.6575C>G (p.Ala2192Gly) rs756301031
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.4(POLE):c.6630G>A (p.Lys2210=) rs1555301066
NM_006231.4(POLE):c.6657+49G>A
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-17G>C rs1342659224
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6658-19C>T rs5745081
NM_006231.4(POLE):c.6658-40C>T
NM_006231.4(POLE):c.6675C>G (p.Arg2225=) rs149973644
NM_006231.4(POLE):c.6699T>C (p.Pro2233=) rs1057521409
NM_006231.4(POLE):c.6747+11_6747+14del rs1555300789
NM_006231.4(POLE):c.6747+25G>T
NM_006231.4(POLE):c.6747+28C>T
NM_006231.4(POLE):c.6748-11T>A rs552311764
NM_006231.4(POLE):c.6748-28G>T
NM_006231.4(POLE):c.6748-29G>C
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6777G>T (p.Arg2259=) rs540203276
NM_006231.4(POLE):c.6843C>T (p.Asn2281=) rs1166482142
NM_006231.4(POLE):c.687C>T (p.His229=) rs770920362
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.4(POLE):c.720+3G>A rs1555229633
NM_006231.4(POLE):c.720+47G>A
NM_006231.4(POLE):c.721-25A>G rs749201176
NM_006231.4(POLE):c.721-35_721-27dup
NM_006231.4(POLE):c.742T>C (p.Tyr248His) rs2136018785
NM_006231.4(POLE):c.769A>G (p.Ile257Val) rs1466704603
NM_006231.4(POLE):c.801+18del rs780928647
NM_006231.4(POLE):c.801+48G>T
NM_006231.4(POLE):c.802-6C>T rs754779082
NM_006231.4(POLE):c.837C>G (p.Thr279=) rs927395918
NM_006231.4(POLE):c.862G>C (p.Ala288Pro) rs1593079445
NM_006231.4(POLE):c.86T>A (p.Val29Asp)
NM_006231.4(POLE):c.900C>T (p.Ile300=) rs1161210567
NM_006231.4(POLE):c.950T>G (p.Ile317Ser) rs1060500783
NM_006231.4(POLE):c.968C>T (p.Thr323Ile) rs1060500873
NM_006231.4(POLE):c.998G>A (p.Cys333Tyr)
NM_006231.4(POLE):c.999dup (p.Val334fs) rs2043045437

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