ClinVar Miner

List of variants in gene POLE reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 590
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.6330+209A>G rs5745029 0.05115
NM_006231.4(POLE):c.2320-113T>C rs5744820 0.03940
NM_006231.4(POLE):c.801+277A>G rs5744755 0.02849
NM_006231.4(POLE):c.3061-293C>T rs5744854 0.02070
NM_006231.4(POLE):c.2469-242G>A rs5744830 0.01825
NM_006231.4(POLE):c.2320-156C>T rs5744819 0.01743
NM_006231.4(POLE):c.801+62C>T rs112156123 0.01556
NM_006231.4(POLE):c.5379-27G>A rs5744965 0.01498
NM_006231.4(POLE):c.4149+223C>T rs5744908 0.01462
NM_006231.4(POLE):c.5678+212G>A rs5744977 0.01317
NM_006231.4(POLE):c.6330+230C>T rs5745030 0.01311
NM_006231.4(POLE):c.6330+64dup rs5745027 0.01307
NM_006231.4(POLE):c.6532-113G>T rs5745071 0.01265
NM_006231.4(POLE):c.6004+60T>C rs5745006 0.01257
NM_006231.4(POLE):c.6331-255T>C rs5745065 0.01193
NM_006231.4(POLE):c.5811+46G>A rs5744992 0.01076
NM_006231.4(POLE):c.2174-330C>T rs147247065 0.00957
NM_006231.4(POLE):c.3061-257G>A rs5744855 0.00957
NM_006231.4(POLE):c.3582+172C>G rs5744890 0.00957
NM_006231.4(POLE):c.6004+165G>T rs5745007 0.00957
NM_006231.4(POLE):c.1795-22C>T rs5744797 0.00955
NM_006231.4(POLE):c.5378+159T>A rs111965265 0.00955
NM_006231.4(POLE):c.1473+75G>A rs5744778 0.00954
NM_006231.4(POLE):c.5679-298C>T rs5744989 0.00950
NM_006231.4(POLE):c.3276-197G>A rs75124341 0.00949
NM_006231.4(POLE):c.801+120T>G rs5744754 0.00948
NM_006231.4(POLE):c.1794+334T>G rs5744785 0.00928
NM_006231.4(POLE):c.1795-250C>T rs5744794 0.00884
NM_006231.4(POLE):c.1795-155T>C rs5744795 0.00817
NM_006231.4(POLE):c.6005-282T>A rs5745017 0.00805
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.286-145C>T rs5744737 0.00579
NM_006231.4(POLE):c.4952+53C>T rs5744949 0.00567
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.909+63A>G rs56367014 0.00444
NM_006231.4(POLE):c.2320-68G>A rs116095591 0.00433
NM_006231.4(POLE):c.6658-88G>A rs5745079 0.00433
NM_006231.4(POLE):c.4150-75G>A rs550651241 0.00425
NM_006231.4(POLE):c.5811+16T>C rs115381003 0.00423
NM_006231.4(POLE):c.2468+184T>G rs59342460 0.00402
NM_006231.4(POLE):c.5173+107C>T rs5744952 0.00401
NM_006231.4(POLE):c.578+281C>T rs5744744 0.00399
NM_006231.4(POLE):c.5812-95A>G rs5745004 0.00389
NM_006231.4(POLE):c.579-140T>G rs5744749 0.00374
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.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.579-185C>T rs111478351 0.00309
NM_006231.4(POLE):c.3060+188A>T rs5744847 0.00307
NM_006231.4(POLE):c.1795-105A>G rs5744796 0.00293
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
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.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
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.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3747G>A (p.Val1249=) rs80290414 0.00080
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.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.2026+9C>T rs373790607 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.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.6831G>T (p.Leu2277=) rs145427269 0.00029
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_006231.4(POLE):c.546C>T (p.His182=) rs115257501 0.00026
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
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.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.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.5173+18C>T rs201587262 0.00017
NM_006231.4(POLE):c.609T>C (p.Asp203=) rs1057522410 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.6576G>A (p.Ala2192=) rs368555884 0.00015
NM_006231.4(POLE):c.1188G>A (p.Glu396=) rs371717068 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.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.285+13C>A rs76960367 0.00011
NM_006231.4(POLE):c.3411G>A (p.Leu1137=) rs368920055 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.4291-11G>A rs369564167 0.00011
NM_006231.4(POLE):c.5898G>A (p.Glu1966=) rs372044043 0.00011
NM_006231.4(POLE):c.774C>G (p.Thr258=) rs149345392 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.4150-17C>T rs758539843 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.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.2174-11G>A rs111570840 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.4719C>T (p.Leu1573=) rs115219846 0.00009
NM_006231.4(POLE):c.5769C>T (p.Gly1923=) rs375198950 0.00009
NM_006231.4(POLE):c.1282G>A (p.Ala428Thr) rs150032060 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.3069C>T (p.Asn1023=) rs759786460 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.1662C>T (p.Ser554=) rs752219944 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.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.3061-15A>G rs754528052 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.4444+19G>A rs368659272 0.00006
NM_006231.4(POLE):c.4494G>A (p.Ala1498=) rs777611171 0.00006
NM_006231.4(POLE):c.594C>T (p.Gly198=) rs140185156 0.00006
NM_006231.4(POLE):c.6039C>T (p.Asp2013=) rs371563366 0.00006
NM_006231.4(POLE):c.1924-6del rs758112633 0.00005
NM_006231.4(POLE):c.3801A>G (p.Glu1267=) rs369436095 0.00005
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.4541T>C (p.Val1514Ala) rs116742454 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.5238C>T (p.Asn1746=) rs200128464 0.00005
NM_006231.4(POLE):c.5652C>T (p.Ile1884=) rs567300887 0.00005
NM_006231.4(POLE):c.5742T>C (p.Leu1914=) rs541999794 0.00005
NM_006231.4(POLE):c.6354C>T (p.Ile2118=) rs547872135 0.00005
NM_006231.4(POLE):c.6606G>A (p.Thr2202=) rs11146982 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.1296A>G (p.Leu432=) rs142624113 0.00004
NM_006231.4(POLE):c.1467C>T (p.Pro489=) rs995585765 0.00004
NM_006231.4(POLE):c.1560A>G (p.Gln520=) rs201841065 0.00004
NM_006231.4(POLE):c.2174-12C>T rs192222479 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.2958A>G (p.Gln986=) rs538349768 0.00004
NM_006231.4(POLE):c.3183C>T (p.Ala1061=) rs751756901 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.378C>A (p.Gly126=) rs374163231 0.00004
NM_006231.4(POLE):c.3891G>A (p.Ser1297=) rs375466233 0.00004
NM_006231.4(POLE):c.3912C>T (p.Pro1304=) rs116482376 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile) rs138443282 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.4260G>A (p.Ala1420=) rs750810969 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.4952+17C>T rs750268044 0.00004
NM_006231.4(POLE):c.4995C>T (p.Ser1665=) rs766531363 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.5412G>A (p.Lys1804=) rs144218410 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.5595C>T (p.Tyr1865=) rs370958363 0.00004
NM_006231.4(POLE):c.5862C>T (p.Asp1954=) rs369929044 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.6405C>T (p.Val2135=) rs139607077 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006231.4(POLE):c.762G>A (p.Pro254=) rs371334601 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.1281C>T (p.Ala427=) rs371586756 0.00003
NM_006231.4(POLE):c.1360-13G>A rs149689764 0.00003
NM_006231.4(POLE):c.1371G>A (p.Thr457=) rs753216372 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.1878C>T (p.Asp626=) rs771910847 0.00003
NM_006231.4(POLE):c.2027-12C>G rs767811987 0.00003
NM_006231.4(POLE):c.207C>G (p.Thr69=) rs146986360 0.00003
NM_006231.4(POLE):c.2154C>T (p.Tyr718=) rs1057524685 0.00003
NM_006231.4(POLE):c.2271C>T (p.Thr757=) rs765532123 0.00003
NM_006231.4(POLE):c.2598C>T (p.Cys866=) rs765653117 0.00003
NM_006231.4(POLE):c.2886C>T (p.Asp962=) rs757682919 0.00003
NM_006231.4(POLE):c.3096C>T (p.Leu1032=) rs200122629 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.3417C>T (p.Ser1139=) rs762838377 0.00003
NM_006231.4(POLE):c.3441C>T (p.Ile1147=) rs748278223 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.4291-12C>G rs564807391 0.00003
NM_006231.4(POLE):c.4296G>A (p.Pro1432=) rs777949353 0.00003
NM_006231.4(POLE):c.4380A>G (p.Ala1460=) rs758830037 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.510C>A (p.Ile170=) rs374074035 0.00003
NM_006231.4(POLE):c.5173+10C>T rs371098994 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.5655T>C (p.Ala1885=) rs761429503 0.00003
NM_006231.4(POLE):c.5736A>G (p.Glu1912=) rs369755963 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.6507G>A (p.Leu2169=) rs375256819 0.00003
NM_006231.4(POLE):c.6804G>A (p.Ser2268=) rs544223319 0.00003
NM_006231.4(POLE):c.786C>T (p.Asp262=) rs201223598 0.00003
NM_006231.4(POLE):c.1089C>T (p.Asn363=) rs146639652 0.00002
NM_006231.4(POLE):c.1137C>T (p.His379=) rs376333939 0.00002
NM_006231.4(POLE):c.1227-8C>T rs537816213 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.1795-11T>C rs750393025 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.2148G>A (p.Ala716=) rs115142739 0.00002
NM_006231.4(POLE):c.2174-9C>T rs774092365 0.00002
NM_006231.4(POLE):c.306G>A (p.Pro102=) rs759888478 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.351A>G (p.Ser117=) rs199773841 0.00002
NM_006231.4(POLE):c.3741G>A (p.Pro1247=) rs368978839 0.00002
NM_006231.4(POLE):c.3777C>T (p.Pro1259=) rs770904877 0.00002
NM_006231.4(POLE):c.3978C>T (p.Ile1326=) rs755659438 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.4308G>C (p.Arg1436=) rs367898059 0.00002
NM_006231.4(POLE):c.4353G>A (p.Leu1451=) rs769149466 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5481G>A (p.Ser1827=) rs775867327 0.00002
NM_006231.4(POLE):c.552C>T (p.Ser184=) rs878854884 0.00002
NM_006231.4(POLE):c.5658C>T (p.Tyr1886=) rs369346799 0.00002
NM_006231.4(POLE):c.579-15C>G rs368482979 0.00002
NM_006231.4(POLE):c.6072C>T (p.Pro2024=) rs768531930 0.00002
NM_006231.4(POLE):c.6137-7C>T rs1057523210 0.00002
NM_006231.4(POLE):c.6363G>A (p.Gln2121=) rs1057522074 0.00002
NM_006231.4(POLE):c.6417C>T (p.Ser2139=) rs766935890 0.00002
NM_006231.4(POLE):c.6532-11G>C rs372829291 0.00002
NM_006231.4(POLE):c.6666G>A (p.Leu2222=) rs777438368 0.00002
NM_006231.4(POLE):c.72C>T (p.Gly24=) rs61751359 0.00002
NM_006231.4(POLE):c.909+20G>A rs750593090 0.00002
NM_006231.4(POLE):c.*16G>A rs1555300695 0.00001
NM_006231.4(POLE):c.1014C>T (p.Pro338=) rs143102561 0.00001
NM_006231.4(POLE):c.1050C>T (p.His350=) rs752171701 0.00001
NM_006231.4(POLE):c.1062C>G (p.Thr354=) rs145245295 0.00001
NM_006231.4(POLE):c.1197G>A (p.Ala399=) rs1000162996 0.00001
NM_006231.4(POLE):c.1260C>T (p.Gly420=) rs1057523868 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.1474-7C>T rs1172867643 0.00001
NM_006231.4(POLE):c.1617C>T (p.Tyr539=) rs775930793 0.00001
NM_006231.4(POLE):c.1687-17T>C rs1026163395 0.00001
NM_006231.4(POLE):c.1687-4C>G rs375705244 0.00001
NM_006231.4(POLE):c.1737C>T (p.Arg579=) rs1057523317 0.00001
NM_006231.4(POLE):c.1743C>T (p.Ala581=) rs766396200 0.00001
NM_006231.4(POLE):c.1794+16G>A rs770818395 0.00001
NM_006231.4(POLE):c.1795-13G>A rs749522265 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.2043C>T (p.Ser681=) rs554997781 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.2187A>G (p.Lys729=) rs1060504065 0.00001
NM_006231.4(POLE):c.2193C>T (p.Tyr731=) rs769596366 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.2322G>A (p.Val774=) rs1057524564 0.00001
NM_006231.4(POLE):c.2398C>T (p.Leu800=) rs1333910199 0.00001
NM_006231.4(POLE):c.2409G>A (p.Ser803=) rs369150359 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.2682C>T (p.Gly894=) rs757453683 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.2721T>C (p.Asn907=) rs779005137 0.00001
NM_006231.4(POLE):c.285+17G>A rs5744736 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.2952C>T (p.Ile984=) rs1000861691 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.321G>A (p.Ala107=) rs752370920 0.00001
NM_006231.4(POLE):c.3327T>C (p.Phe1109=) rs748049159 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.3396C>T (p.Tyr1132=) rs1593766726 0.00001
NM_006231.4(POLE):c.3492C>T (p.Pro1164=) rs754348616 0.00001
NM_006231.4(POLE):c.3546G>A (p.Lys1182=) rs1393231299 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+6G>A rs113307290 0.00001
NM_006231.4(POLE):c.3588G>A (p.Thr1196=) rs771747587 0.00001
NM_006231.4(POLE):c.3618G>A (p.Arg1206=) rs888690702 0.00001
NM_006231.4(POLE):c.3645C>T (p.Phe1215=) rs758716323 0.00001
NM_006231.4(POLE):c.3651C>T (p.Leu1217=) rs765445494 0.00001
NM_006231.4(POLE):c.3768G>A (p.Gly1256=) rs776702809 0.00001
NM_006231.4(POLE):c.3861C>T (p.Leu1287=) rs761684406 0.00001
NM_006231.4(POLE):c.3933T>C (p.Pro1311=) rs533545710 0.00001
NM_006231.4(POLE):c.3975C>T (p.Ser1325=) rs749011369 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.4005+8C>A rs762723589 0.00001
NM_006231.4(POLE):c.4006-20A>G rs1057523958 0.00001
NM_006231.4(POLE):c.4140G>A (p.Ser1380=) rs199851128 0.00001
NM_006231.4(POLE):c.4150-13G>A rs780409701 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.4357A>C (p.Arg1453=) rs1057524305 0.00001
NM_006231.4(POLE):c.4371C>T (p.Gly1457=) rs771489059 0.00001
NM_006231.4(POLE):c.4445-10C>T rs1057522514 0.00001
NM_006231.4(POLE):c.4445-7T>C rs754001064 0.00001
NM_006231.4(POLE):c.4527G>A (p.Arg1509=) rs767676720 0.00001
NM_006231.4(POLE):c.4533C>T (p.Ser1511=) rs1057523672 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.4552-4C>G rs913720556 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.4716G>A (p.Leu1572=) rs138782478 0.00001
NM_006231.4(POLE):c.4729-12G>A rs765204902 0.00001
NM_006231.4(POLE):c.477T>C (p.Thr159=) rs377652373 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.4952+16T>C rs755998543 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.5346C>T (p.Tyr1782=) rs761902063 0.00001
NM_006231.4(POLE):c.5397C>T (p.Val1799=) rs770069897 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.5553-7T>C rs1383470676 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 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.5812-4A>G rs377036606 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.6093C>T (p.Ser2031=) rs934958443 0.00001
NM_006231.4(POLE):c.6123C>T (p.Val2041=) rs754324470 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.6201T>C (p.Thr2067=) rs983980599 0.00001
NM_006231.4(POLE):c.6210T>A (p.Ile2070=) rs139990705 0.00001
NM_006231.4(POLE):c.6273C>T (p.Pro2091=) rs767769851 0.00001
NM_006231.4(POLE):c.6339C>T (p.Ser2113=) rs781680187 0.00001
NM_006231.4(POLE):c.6340C>T (p.Leu2114=) rs1165241306 0.00001
NM_006231.4(POLE):c.6531+12C>T rs1041511996 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 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.717C>T (p.His239=) rs567612169 0.00001
NM_006231.4(POLE):c.720+6T>C rs751448342 0.00001
NM_006231.4(POLE):c.765A>G (p.Val255=) rs898919469 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.942A>C (p.Ser314=) rs548933169 0.00001
NM_006231.4(POLE):c.996T>C (p.Phe332=) rs779159186 0.00001
NM_006231.4(POLE):c.1002C>T (p.Val334=) rs1555229284
NM_006231.4(POLE):c.1020+5_1020+6delinsAA rs1064795707
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.1145G>A (p.Ser382Asn) rs761600715
NM_006231.4(POLE):c.1272C>G (p.Leu424=) rs1555228638
NM_006231.4(POLE):c.1347G>C (p.Thr449=) rs142373951
NM_006231.4(POLE):c.1360-5C>T rs1555228512
NM_006231.4(POLE):c.1464G>A (p.Glu488=) rs1012445618
NM_006231.4(POLE):c.1473+7A>G rs1555228439
NM_006231.4(POLE):c.1474-13G>A rs1555228383
NM_006231.4(POLE):c.1479G>C (p.Leu493=) rs1555228372
NM_006231.4(POLE):c.1687-13A>G rs527311638
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.1707C>G (p.Phe569Leu) rs147438050
NM_006231.4(POLE):c.1773G>A (p.Glu591=) rs767933490
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.1795-216G>A rs115647860
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.1863C>G (p.Leu621=) rs767326433
NM_006231.4(POLE):c.1923+12C>G rs764448704
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1993C>A (p.Arg665=) rs367902268
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.2027-12C>T rs767811987
NM_006231.4(POLE):c.2027-16A>G rs1057517614
NM_006231.4(POLE):c.204+8C>G rs749595462
NM_006231.4(POLE):c.207C>T (p.Thr69=) rs146986360
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2091C>T (p.Pro697=) rs1060504055
NM_006231.4(POLE):c.2133C>G (p.Ser711=) rs1368511972
NM_006231.4(POLE):c.2166G>A (p.Arg722=) rs1218032839
NM_006231.4(POLE):c.2173+11G>A rs1057522621
NM_006231.4(POLE):c.2205C>T (p.His735=) rs1057523974
NM_006231.4(POLE):c.2253C>T (p.Asn751=) rs1239144686
NM_006231.4(POLE):c.2289C>T (p.Asp763=) rs1057521109
NM_006231.4(POLE):c.228G>A (p.Lys76=) rs1593087243
NM_006231.4(POLE):c.2320-12T>C rs2135962443
NM_006231.4(POLE):c.2334G>A (p.Lys778=) rs929596537
NM_006231.4(POLE):c.2505C>G (p.Val835=) rs878854852
NM_006231.4(POLE):c.2561+16G>A rs1057523560
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.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+9dup rs1555226409
NM_006231.4(POLE):c.285+17G>T rs5744736
NM_006231.4(POLE):c.3027G>T (p.Val1009=) rs1057521358
NM_006231.4(POLE):c.3060+20C>G rs1555225929
NM_006231.4(POLE):c.3060+5_3060+6delinsTTA rs1555225934
NM_006231.4(POLE):c.3084G>A (p.Glu1028=) rs1057521764
NM_006231.4(POLE):c.3135T>C (p.Asp1045=) rs748871390
NM_006231.4(POLE):c.3159C>T (p.Ser1053=) rs1057524186
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+265dup rs201317836
NM_006231.4(POLE):c.3276-315G>A rs5744881
NM_006231.4(POLE):c.3276-4C>T rs1555225328
NM_006231.4(POLE):c.3279C>T (p.Ala1093=) rs1057521217
NM_006231.4(POLE):c.331-3T>C rs1269825866
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.3387T>C (p.Asp1129=) rs371357642
NM_006231.4(POLE):c.3582+16_3582+17inv
NM_006231.4(POLE):c.3582+20G>T rs746745345
NM_006231.4(POLE):c.3582+9G>A rs1057524057
NM_006231.4(POLE):c.3583-12dup rs766426579
NM_006231.4(POLE):c.3583-448C>T rs5744895
NM_006231.4(POLE):c.3777C>A (p.Pro1259=) rs770904877
NM_006231.4(POLE):c.3796-11A>G rs1555223983
NM_006231.4(POLE):c.3796-20G>A rs1057522550
NM_006231.4(POLE):c.3921C>A (p.Ile1307=) rs1555223944
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.4080G>C (p.Leu1360=) rs1555223858
NM_006231.4(POLE):c.4149+300_4149+302del rs5744910
NM_006231.4(POLE):c.4150-12T>C rs551697046
NM_006231.4(POLE):c.4150-16G>T rs375774291
NM_006231.4(POLE):c.4158G>A (p.Arg1386=) rs1473134331
NM_006231.4(POLE):c.4291-12C>T rs564807391
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+9T>C rs1060504072
NM_006231.4(POLE):c.4445-3C>T rs1555222948
NM_006231.4(POLE):c.4449T>C (p.Ser1483=) rs1057521430
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4552-11C>G rs202176361
NM_006231.4(POLE):c.4552-9T>C rs1432965677
NM_006231.4(POLE):c.456C>T (p.Tyr152=) rs560617100
NM_006231.4(POLE):c.4635C>T (p.Leu1545=) rs199945393
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.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.4794T>C (p.Ser1598=) rs1555222600
NM_006231.4(POLE):c.4863C>T (p.Val1621=) rs1057522227
NM_006231.4(POLE):c.4952+20_4952+22del rs752389775
NM_006231.4(POLE):c.4992C>T (p.Ile1664=) rs1555222515
NM_006231.4(POLE):c.5010C>T (p.Asp1670=) rs1593729869
NM_006231.4(POLE):c.5037C>A (p.Arg1679=) rs1057523897
NM_006231.4(POLE):c.5088A>G (p.Gly1696=) rs1555222476
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.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.549C>A (p.Ala183=) rs1555230075
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.558G>A (p.Ala186=) rs764758303
NM_006231.4(POLE):c.5678+263TTTG[2] rs201090125
NM_006231.4(POLE):c.5678+6G>A rs551185075
NM_006231.4(POLE):c.5757A>G (p.Pro1919=) rs1426714579
NM_006231.4(POLE):c.5811+310G>A rs5744994
NM_006231.4(POLE):c.585G>C (p.Leu195=) rs1555229762
NM_006231.4(POLE):c.5871G>A (p.Glu1957=) rs1593712305
NM_006231.4(POLE):c.6000T>A (p.Val2000=) rs746483776
NM_006231.4(POLE):c.6005-12G>A rs1593709333
NM_006231.4(POLE):c.6005-13T>C rs1555221027
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.6120G>A (p.Ala2040=) rs777260502
NM_006231.4(POLE):c.6137-19A>T rs1057524544
NM_006231.4(POLE):c.6162T>C (p.Tyr2054=) rs1057523175
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.63-135_63-131del rs905612032
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6531+15C>T rs1057523088
NM_006231.4(POLE):c.6532-4C>G rs769080253
NM_006231.4(POLE):c.6630G>A (p.Lys2210=) rs1555301066
NM_006231.4(POLE):c.6658-12G>C rs1555300850
NM_006231.4(POLE):c.6658-19C>G rs5745081
NM_006231.4(POLE):c.6658-19C>T rs5745081
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.6748-11T>A rs552311764
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.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.723T>A (p.Ala241=) rs144422646
NM_006231.4(POLE):c.801+18del rs780928647
NM_006231.4(POLE):c.837C>G (p.Thr279=) rs927395918
NM_006231.4(POLE):c.900C>T (p.Ile300=) rs1161210567
NM_006231.4(POLE):c.903T>C (p.Asp301=) rs1593079339

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