ClinVar Miner

List of variants in gene POLE studied for Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
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.5707C>T (p.Leu1903=) rs5744990 0.15256
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01301
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00487
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00461
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
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.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00140
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00052
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00021
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.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.2487G>A (p.Met829Ile) rs372109189 0.00014
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 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.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 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.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.314A>G (p.Tyr105Cys) rs1451750169 0.00009
NM_006231.4(POLE):c.3725C>T (p.Ser1242Phe) rs373213156 0.00009
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.378C>A (p.Gly126=) rs374163231 0.00007
NM_006231.4(POLE):c.3968C>T (p.Ala1323Val) rs550525366 0.00007
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00007
NM_006231.4(POLE):c.122C>T (p.Thr41Met) rs148269473 0.00006
NM_006231.4(POLE):c.179C>T (p.Thr60Ile) rs772684226 0.00006
NM_006231.4(POLE):c.5516G>A (p.Arg1839His) rs370512955 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00006
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00005
NM_006231.4(POLE):c.5007C>T (p.Ser1669=) rs146761597 0.00005
NM_006231.4(POLE):c.5206G>A (p.Val1736Ile) rs770181299 0.00005
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg) rs147954675 0.00005
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265 0.00005
NM_006231.4(POLE):c.1014C>T (p.Pro338=) rs143102561 0.00004
NM_006231.4(POLE):c.2038C>T (p.Arg680Cys) rs764044031 0.00004
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr) rs868832791 0.00004
NM_006231.4(POLE):c.2763C>T (p.Tyr921=) rs767254003 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.2818A>G (p.Met940Val) rs148382941 0.00004
NM_006231.4(POLE):c.3183C>T (p.Ala1061=) rs751756901 0.00004
NM_006231.4(POLE):c.3778G>A (p.Ala1260Thr) rs143858927 0.00004
NM_006231.4(POLE):c.4306C>T (p.Arg1436Trp) rs764904030 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.1584G>A (p.Thr528=) rs371824210 0.00003
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn) rs753660907 0.00003
NM_006231.4(POLE):c.1949C>T (p.Thr650Ile) rs115559742 0.00003
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00003
NM_006231.4(POLE):c.301A>G (p.Lys101Glu) rs560654523 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.3668C>T (p.Pro1223Leu) rs766806062 0.00003
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00003
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00003
NM_006231.4(POLE):c.4106A>G (p.Asn1369Ser) rs746524982 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00003
NM_006231.4(POLE):c.5797A>G (p.Ile1933Val) rs758762868 0.00003
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu) rs756828876 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.6119C>T (p.Ala2040Val) rs5745021 0.00003
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00003
NM_006231.4(POLE):c.6804G>A (p.Ser2268=) rs544223319 0.00003
NM_006231.4(POLE):c.710A>G (p.Lys237Arg) rs879762286 0.00003
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.302A>G (p.Lys101Arg) rs1016258970 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu) rs772686048 0.00002
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00002
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579 0.00002
NM_006231.4(POLE):c.4876C>T (p.Arg1626Cys) rs753713315 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 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.1322C>T (p.Pro441Leu) rs775340163 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_006231.4(POLE):c.1485G>A (p.Lys495=) rs116062148 0.00001
NM_006231.4(POLE):c.1516A>G (p.Met506Val) rs773634913 0.00001
NM_006231.4(POLE):c.1591G>A (p.Gly531Arg) rs748489355 0.00001
NM_006231.4(POLE):c.1675C>T (p.Arg559Trp) rs753784391 0.00001
NM_006231.4(POLE):c.1687-3T>G rs148115738 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.1935G>A (p.Met645Ile) rs561707898 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2043C>T (p.Ser681=) rs554997781 0.00001
NM_006231.4(POLE):c.2123A>G (p.His708Arg) rs2042844365 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.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.2275C>T (p.Arg759Cys) rs759398253 0.00001
NM_006231.4(POLE):c.229C>T (p.Arg77Cys) rs1060500889 0.00001
NM_006231.4(POLE):c.2327A>G (p.Lys776Arg) rs375791061 0.00001
NM_006231.4(POLE):c.2335C>T (p.Leu779Phe) rs747478766 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.241G>A (p.Ala81Thr) rs749720207 0.00001
NM_006231.4(POLE):c.2442C>T (p.Ser814=) rs377036799 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 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+5G>A rs375931088 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.2771G>A (p.Arg924His) rs763594644 0.00001
NM_006231.4(POLE):c.2877C>T (p.Phe959=) rs770453296 0.00001
NM_006231.4(POLE):c.3109C>T (p.Arg1037Cys) rs948001596 0.00001
NM_006231.4(POLE):c.3122G>A (p.Arg1041Gln) rs774645622 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.3401T>C (p.Ile1134Thr) rs1054915845 0.00001
NM_006231.4(POLE):c.341G>A (p.Arg114Gln) rs375785166 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656 0.00001
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.3901G>A (p.Val1301Met) rs112098447 0.00001
NM_006231.4(POLE):c.3938C>T (p.Thr1313Met) rs949243552 0.00001
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00001
NM_006231.4(POLE):c.4027G>A (p.Gly1343Ser) rs556821288 0.00001
NM_006231.4(POLE):c.4139C>T (p.Ser1380Leu) rs762090058 0.00001
NM_006231.4(POLE):c.4144C>T (p.Arg1382Cys) rs5744904 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.4455C>T (p.Arg1485=) rs750833365 0.00001
NM_006231.4(POLE):c.452A>G (p.Asn151Ser) rs969812647 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.4789G>A (p.Ala1597Thr) rs752184541 0.00001
NM_006231.4(POLE):c.4844A>G (p.Asp1615Gly) rs2042174030 0.00001
NM_006231.4(POLE):c.4952+4A>G rs962068207 0.00001
NM_006231.4(POLE):c.5023C>T (p.Arg1675Cys) rs1027297469 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5131C>A (p.Gln1711Lys) rs774619692 0.00001
NM_006231.4(POLE):c.5275G>A (p.Asp1759Asn) rs768559928 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5364C>T (p.Cys1788=) rs5744955 0.00001
NM_006231.4(POLE):c.5421C>T (p.Thr1807=) rs1005814484 0.00001
NM_006231.4(POLE):c.547G>A (p.Ala183Thr) rs993340577 0.00001
NM_006231.4(POLE):c.5492T>C (p.Leu1831Pro) rs781674901 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5632C>T (p.Arg1878Cys) rs199979862 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_006231.4(POLE):c.5794C>T (p.Arg1932Cys) rs879254168 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.595G>A (p.Gly199Ser) rs776540681 0.00001
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn) rs905858506 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6286C>G (p.Leu2096Val) rs1049603207 0.00001
NM_006231.4(POLE):c.6317A>G (p.Lys2106Arg) rs762471347 0.00001
NM_006231.4(POLE):c.6323T>C (p.Val2108Ala) rs370363095 0.00001
NM_006231.4(POLE):c.6384C>A (p.Asp2128Glu) rs758101414 0.00001
NM_006231.4(POLE):c.6460C>T (p.Pro2154Ser) rs778456846 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.6673C>T (p.Arg2225Cys) rs765125852 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.6792C>G (p.His2264Gln) rs1396625189 0.00001
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.907C>T (p.Gln303Ter) rs749117997 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724 0.00001
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.4(POLE):c.1171A>G (p.Lys391Glu) rs2542158500
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1476G>A (p.Val492=)
NM_006231.4(POLE):c.1524G>A (p.Gln508=)
NM_006231.4(POLE):c.1651G>A (p.Val551Ile) rs2042956447
NM_006231.4(POLE):c.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.4(POLE):c.1669C>G (p.Pro557Ala)
NM_006231.4(POLE):c.1676G>C (p.Arg559Pro)
NM_006231.4(POLE):c.1693G>T (p.Ala565Ser) rs747247890
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.4(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.186G>T (p.Trp62Cys)
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.1924C>A (p.Pro642Thr) rs1178412345
NM_006231.4(POLE):c.1936G>A (p.Val646Met) rs2042855097
NM_006231.4(POLE):c.1986C>T (p.Asn662=) rs2542101805
NM_006231.4(POLE):c.1991A>C (p.Gln664Pro) rs1401873092
NM_006231.4(POLE):c.207C>T (p.Thr69=) rs146986360
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2083T>G (p.Phe695Val) rs5744799
NM_006231.4(POLE):c.2088C>A (p.Pro696=) rs2135975598
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2125G>A (p.Glu709Lys) rs1367402208
NM_006231.4(POLE):c.2371G>A (p.Val791Met) rs2542074602
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.242C>T (p.Ala81Val) rs780246896
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.271G>A (p.Gly91Arg) rs1316316435
NM_006231.4(POLE):c.2734_2735delinsAT (p.Glu912Met) rs2135949435
NM_006231.4(POLE):c.2785A>G (p.Ile929Val) rs765066823
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.297del (p.Tyr100fs) rs2043138492
NM_006231.4(POLE):c.3279C>T (p.Ala1093=) rs1057521217
NM_006231.4(POLE):c.3283C>A (p.Pro1095Thr)
NM_006231.4(POLE):c.3310A>G (p.Thr1104Ala) rs2138663582
NM_006231.4(POLE):c.3342C>T (p.Leu1114=) rs769584721
NM_006231.4(POLE):c.3446C>T (p.Ala1149Val) rs778212434
NM_006231.4(POLE):c.3465G>T (p.Lys1155Asn) rs1449239461
NM_006231.4(POLE):c.3479G>C (p.Arg1160Pro)
NM_006231.4(POLE):c.3657G>A (p.Lys1219=) rs1593751325
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3725C>G (p.Ser1242Cys) rs373213156
NM_006231.4(POLE):c.4031T>C (p.Leu1344Pro) rs368111350
NM_006231.4(POLE):c.4110G>A (p.Gln1370=)
NM_006231.4(POLE):c.4136C>T (p.Ala1379Val) rs2042349830
NM_006231.4(POLE):c.4153A>T (p.Asn1385Tyr) rs2042217919
NM_006231.4(POLE):c.4225G>A (p.Glu1409Lys) rs1060500845
NM_006231.4(POLE):c.4287T>C (p.Thr1429=) rs1060504044
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4409T>C (p.Met1470Thr) rs2138550452
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4586T>C (p.Leu1529Pro)
NM_006231.4(POLE):c.4640C>T (p.Pro1547Leu)
NM_006231.4(POLE):c.4643C>T (p.Pro1548Leu) rs779475320
NM_006231.4(POLE):c.4645C>A (p.Pro1549Thr) rs147500308
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5008G>A (p.Asp1670Asn) rs1060500823
NM_006231.4(POLE):c.5150A>G (p.Asn1717Ser) rs1028428160
NM_006231.4(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.4(POLE):c.5321A>G (p.Gln1774Arg)
NM_006231.4(POLE):c.5378+4C>T rs1565935556
NM_006231.4(POLE):c.5478G>A (p.Arg1826=) rs537648186
NM_006231.4(POLE):c.5525A>G (p.His1842Arg) rs1060500795
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.575C>A (p.Ser192Tyr)
NM_006231.4(POLE):c.5773A>C (p.Ile1925Leu) rs2042022859
NM_006231.4(POLE):c.5908T>C (p.Ser1970Pro) rs1258796672
NM_006231.4(POLE):c.5916G>A (p.Val1972=) rs1060504057
NM_006231.4(POLE):c.6005-12G>T
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6088del (p.Ala2030fs) rs1060500809
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6237C>T (p.Asn2079=) rs1349472933
NM_006231.4(POLE):c.6244G>A (p.Glu2082Lys) rs1285938402
NM_006231.4(POLE):c.6308A>C (p.Glu2103Ala) rs1555220870
NM_006231.4(POLE):c.6322G>T (p.Val2108Leu) rs776551240
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.6491G>A (p.Cys2164Tyr) rs750401329
NM_006231.4(POLE):c.6608T>C (p.Leu2203Pro)
NM_006231.4(POLE):c.6651G>A (p.Gln2217=) rs1593696233
NM_006231.4(POLE):c.6754A>C (p.Met2252Leu) rs759660507
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.787C>A (p.Leu263Ile) rs2043077432
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.80C>T (p.Ser27Phe) rs1593088347
NM_006231.4(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.4(POLE):c.929G>T (p.Arg310Met)
NM_006231.4(POLE):c.944A>G (p.Glu315Gly) rs2542167677
NM_006231.4(POLE):c.965T>G (p.Phe322Cys)

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