ClinVar Miner

List of variants in gene POLE reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 494
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.1226+45C>T rs5744761 0.07418
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
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.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.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.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.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.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.6495C>T (p.Arg2165=) rs114778730 0.00053
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.*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.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
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.4941C>T (p.Phe1647=) rs145639967 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.3379-12C>T rs187618435 0.00023
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.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.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.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.6331-24C>T rs201573387 0.00016
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
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.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.1227-49G>A rs373243003 0.00012
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 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.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.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.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.5480C>T (p.Ser1827Leu) rs763031537 0.00008
NM_006231.4(POLE):c.6111C>T (p.Ala2037=) rs541439106 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 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.2468+12C>T rs776938447 0.00006
NM_006231.4(POLE):c.3615G>A (p.Pro1205=) rs560825851 0.00006
NM_006231.4(POLE):c.4444+18C>T rs780605858 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.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.1357C>G (p.Gln453Glu) rs781360770 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 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.3595G>A (p.Glu1199Lys) rs1012418859 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 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.4779G>T (p.Leu1593=) rs542995085 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.5412G>A (p.Lys1804=) rs144218410 0.00004
NM_006231.4(POLE):c.5515C>T (p.Arg1839Cys) rs141519273 0.00004
NM_006231.4(POLE):c.5811+12G>A rs765804223 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.834G>A (p.Thr278=) rs758368160 0.00004
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.1281C>T (p.Ala427=) rs371586756 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.1837G>A (p.Val613Ile) rs200471266 0.00003
NM_006231.4(POLE):c.1847G>A (p.Arg616His) rs764558974 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.2333A>C (p.Lys778Thr) rs868832791 0.00003
NM_006231.4(POLE):c.3065C>T (p.Ala1022Val) rs756998826 0.00003
NM_006231.4(POLE):c.3582+5C>T rs775661457 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.4551+18C>T rs747006780 0.00003
NM_006231.4(POLE):c.4708C>T (p.Arg1570Ter) rs1037592848 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.5339C>G (p.Ala1780Gly) rs1024088828 0.00003
NM_006231.4(POLE):c.5467C>T (p.Arg1823Cys) rs753627422 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.5730C>G (p.Cys1910Trp) rs549163600 0.00003
NM_006231.4(POLE):c.6321C>T (p.Tyr2107=) rs201656807 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.1277C>T (p.Ala426Val) rs374920539 0.00002
NM_006231.4(POLE):c.1533C>T (p.His511=) rs545378475 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.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.4900C>T (p.Arg1634Cys) rs769762523 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.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.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6531+19G>A rs1209524249 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.910-5G>A rs750101293 0.00002
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 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.1278G>A (p.Ala426=) rs1437075270 0.00001
NM_006231.4(POLE):c.1326G>A (p.Glu442=) rs745411507 0.00001
NM_006231.4(POLE):c.1419C>T (p.Tyr473=) rs369961557 0.00001
NM_006231.4(POLE):c.1687-39T>G rs376101669 0.00001
NM_006231.4(POLE):c.1696G>A (p.Ala566Thr) rs773813430 0.00001
NM_006231.4(POLE):c.1736G>A (p.Arg579His) rs149296223 0.00001
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys) rs752076074 0.00001
NM_006231.4(POLE):c.2087C>T (p.Pro696Leu) rs766037063 0.00001
NM_006231.4(POLE):c.2217G>A (p.Val739=) rs374750963 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.2358C>T (p.Gly786=) rs1278181584 0.00001
NM_006231.4(POLE):c.2377C>T (p.Arg793Cys) rs376624527 0.00001
NM_006231.4(POLE):c.2662G>A (p.Val888Met) rs1314058108 0.00001
NM_006231.4(POLE):c.2682C>T (p.Gly894=) rs757453683 0.00001
NM_006231.4(POLE):c.285+30C>T rs184271897 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.3447G>A (p.Ala1149=) rs758702382 0.00001
NM_006231.4(POLE):c.3492C>T (p.Pro1164=) rs754348616 0.00001
NM_006231.4(POLE):c.3588G>A (p.Thr1196=) rs771747587 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.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.3990G>A (p.Pro1330=) rs777546371 0.00001
NM_006231.4(POLE):c.4005+7A>G rs372329585 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.4156C>T (p.Arg1386Trp) rs747619107 0.00001
NM_006231.4(POLE):c.4198T>C (p.Tyr1400His) rs761011442 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.4290+21G>A rs544899153 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.4490A>G (p.Lys1497Arg) rs557957962 0.00001
NM_006231.4(POLE):c.4551+15C>T rs770422878 0.00001
NM_006231.4(POLE):c.4581C>T (p.Gly1527=) rs772646117 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.4934A>G (p.Gln1645Arg) rs878854879 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5168C>T (p.Ser1723Phe) rs996998835 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.5361del (p.Cys1788fs) rs752558475 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.5572C>T (p.Arg1858Cys) rs1193081581 0.00001
NM_006231.4(POLE):c.557C>T (p.Ala186Val) rs151325267 0.00001
NM_006231.4(POLE):c.578+47A>G rs1389319633 0.00001
NM_006231.4(POLE):c.5812-10T>C rs1357148818 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.5901G>A (p.Ala1967=) rs200474862 0.00001
NM_006231.4(POLE):c.6019G>A (p.Val2007Met) rs748106601 0.00001
NM_006231.4(POLE):c.6045G>A (p.Leu2015=) rs764220093 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6156G>A (p.Gln2052=) rs149841283 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 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.6748-20G>C rs139246810 0.00001
NM_006231.4(POLE):c.720+20G>A rs771352389 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.90G>A (p.Ser30=) rs369224511 0.00001
NM_006231.4(POLE):c.974A>G (p.Lys325Arg) rs1555229291 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.1013C>T (p.Pro338Leu) rs1593078223
NM_006231.4(POLE):c.101G>T (p.Arg34Leu) rs747005851
NM_006231.4(POLE):c.1020+50C>T
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.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+46G>A
NM_006231.4(POLE):c.1226+50T>C
NM_006231.4(POLE):c.1255G>A (p.Val419Met)
NM_006231.4(POLE):c.1259G>A (p.Gly420Asp) rs2136000426
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.4(POLE):c.1359+22T>C
NM_006231.4(POLE):c.1359+35G>A
NM_006231.4(POLE):c.1359+42C>T
NM_006231.4(POLE):c.1359+47_1359+117del rs1565972903
NM_006231.4(POLE):c.1359+50G>C
NM_006231.4(POLE):c.1570T>G (p.Phe524Val) rs1593071029
NM_006231.4(POLE):c.158T>C (p.Leu53Pro) rs1336989336
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.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.1784A>G (p.Asn595Ser) rs969500436
NM_006231.4(POLE):c.1794+35_1794+36del rs368632925
NM_006231.4(POLE):c.1795-16T>G
NM_006231.4(POLE):c.1795-29G>T
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.1924-32C>T
NM_006231.4(POLE):c.2026+30G>A
NM_006231.4(POLE):c.2026+39C>T
NM_006231.4(POLE):c.2026+42dup
NM_006231.4(POLE):c.2027-40G>A
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.2091C>A (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2091C>T (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2146G>T (p.Ala716Ser)
NM_006231.4(POLE):c.2173+23G>T rs141477185
NM_006231.4(POLE):c.2203C>T (p.His735Tyr)
NM_006231.4(POLE):c.2213A>G (p.Lys738Arg) rs2135970699
NM_006231.4(POLE):c.2231C>T (p.Thr744Ile)
NM_006231.4(POLE):c.2276G>T (p.Arg759Leu) rs746774432
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.2434C>G (p.Leu812Val)
NM_006231.4(POLE):c.2469-32G>A
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.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.2562-3A>G rs2135957216
NM_006231.4(POLE):c.2562-86_2562-48del
NM_006231.4(POLE):c.2652G>A (p.Lys884=)
NM_006231.4(POLE):c.2706+21C>T
NM_006231.4(POLE):c.2706+42G>A rs2135956273
NM_006231.4(POLE):c.2706+44G>A
NM_006231.4(POLE):c.2707-23C>T
NM_006231.4(POLE):c.2731del (p.Gln911fs) rs1555226051
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.2942T>C (p.Leu981Pro) rs1364597199
NM_006231.4(POLE):c.3061-43G>A
NM_006231.4(POLE):c.3129G>A (p.Leu1043=) rs1384907122
NM_006231.4(POLE):c.3132A>C (p.Glu1044Asp) rs2138677462
NM_006231.4(POLE):c.3173A>G (p.Lys1058Arg)
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+13del rs761516512
NM_006231.4(POLE):c.3275+24G>C
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3276-22T>C
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.3354C>A (p.Ser1118=)
NM_006231.4(POLE):c.3378+3G>T
NM_006231.4(POLE):c.3379-40del
NM_006231.4(POLE):c.3379-45C>T
NM_006231.4(POLE):c.3459+23G>A
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+32G>A
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.3583-45G>A
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656
NM_006231.4(POLE):c.374A>C (p.Gln125Pro) rs1286172788
NM_006231.4(POLE):c.3795+26_3795+27del
NM_006231.4(POLE):c.3795+31T>C
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.4031T>C (p.Leu1344Pro) rs368111350
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738
NM_006231.4(POLE):c.4085T>C (p.Ile1362Thr)
NM_006231.4(POLE):c.4150-36C>G rs755471365
NM_006231.4(POLE):c.4150-37dup
NM_006231.4(POLE):c.423+42G>A
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.4290+30G>A
NM_006231.4(POLE):c.4290+40C>T
NM_006231.4(POLE):c.4291-11G>C rs369564167
NM_006231.4(POLE):c.4291-22C>T rs759282531
NM_006231.4(POLE):c.4291-24G>A
NM_006231.4(POLE):c.4291-7C>A rs1060504076
NM_006231.4(POLE):c.4293T>C (p.Val1431=)
NM_006231.4(POLE):c.4444+10G>T rs761312129
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.4552-10G>T rs5744946
NM_006231.4(POLE):c.4669G>A (p.Ala1557Thr)
NM_006231.4(POLE):c.4729-18del
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.4821A>C (p.Pro1607=)
NM_006231.4(POLE):c.4877G>A (p.Arg1626His) rs766252708
NM_006231.4(POLE):c.4877G>T (p.Arg1626Leu) rs766252708
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.5012T>A (p.Leu1671His)
NM_006231.4(POLE):c.5066C>T (p.Thr1689Ile)
NM_006231.4(POLE):c.5156C>A (p.Ser1719Ter)
NM_006231.4(POLE):c.5190C>T (p.Asp1730=) rs1232184956
NM_006231.4(POLE):c.520G>A (p.Val174Met) rs1250780418
NM_006231.4(POLE):c.5337G>A (p.Pro1779=) rs749991080
NM_006231.4(POLE):c.5378+22A>C rs2138522472
NM_006231.4(POLE):c.5378+23G>C
NM_006231.4(POLE):c.5679-22G>A
NM_006231.4(POLE):c.578+42C>T
NM_006231.4(POLE):c.5811+25C>T
NM_006231.4(POLE):c.5812-30_5812-29del
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.5905G>A (p.Glu1969Lys)
NM_006231.4(POLE):c.5998G>A (p.Val2000Ile)
NM_006231.4(POLE):c.6004+24G>T rs1453853935
NM_006231.4(POLE):c.6085G>T (p.Gly2029Trp)
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.6331-18G>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.6531+18C>T rs768260829
NM_006231.4(POLE):c.6531+29C>T
NM_006231.4(POLE):c.6532-19_6532-12delinsA
NM_006231.4(POLE):c.6532-29G>T
NM_006231.4(POLE):c.6575C>G (p.Ala2192Gly) rs756301031
NM_006231.4(POLE):c.6657+49G>A
NM_006231.4(POLE):c.6658-17G>C rs1342659224
NM_006231.4(POLE):c.6658-33G>C
NM_006231.4(POLE):c.6658-40C>T
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.6748-28G>T
NM_006231.4(POLE):c.6748-29G>C
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.6836A>G (p.Gln2279Arg) rs1593693369
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.746G>A (p.Arg249Gln) rs1331349861
NM_006231.4(POLE):c.801+48G>T
NM_006231.4(POLE):c.802-6C>T rs754779082
NM_006231.4(POLE):c.862G>C (p.Ala288Pro) rs1593079445
NM_006231.4(POLE):c.86T>A (p.Val29Asp)
NM_006231.4(POLE):c.909+44C>T
NM_006231.4(POLE):c.968C>T (p.Thr323Ile) rs1060500873
NM_006231.4(POLE):c.998G>A (p.Cys333Tyr)

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