ClinVar Miner

List of variants in gene POLE reported as uncertain significance for attenuated familial adenomatous polyposis

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
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.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_006231.4(POLE):c.3922C>T (p.Arg1308Trp) rs763854815 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.6004+5G>T rs372169366 0.00014
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.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 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.6050G>A (p.Arg2017His) rs144178150 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.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 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.2174-11G>A rs111570840 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.1282G>A (p.Ala428Thr) rs150032060 0.00008
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006231.4(POLE):c.2639C>T (p.Thr880Met) rs1337524033 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.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.1478del (p.Leu493fs) rs760070332 0.00006
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006231.4(POLE):c.2039G>A (p.Arg680His) rs763522976 0.00006
NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) rs759497382 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 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.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.686A>C (p.His229Pro) rs1482513360 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1336C>T (p.Arg446Trp) rs200403177 0.00004
NM_006231.4(POLE):c.1411A>G (p.Met471Val) rs749021187 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006231.4(POLE):c.2038C>T (p.Arg680Cys) rs764044031 0.00004
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp) rs116326665 0.00004
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) rs374800058 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile) rs138443282 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.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr) rs748008084 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6476G>A (p.Arg2159His) rs373092830 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.863C>G (p.Ala288Gly) rs771619667 0.00004
NM_006231.4(POLE):c.909G>C (p.Gln303His) rs779801916 0.00004
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.1138G>T (p.Gly380Cys) rs199746481 0.00003
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.138del (p.Leu46fs) rs1555230420 0.00003
NM_006231.4(POLE):c.1450A>G (p.Ile484Val) rs1027889796 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu) rs572986717 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.4799T>C (p.Ile1600Thr) rs945434123 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=) rs1057524549 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.1181A>G (p.Gln394Arg) rs1014444345 0.00002
NM_006231.4(POLE):c.1277C>T (p.Ala426Val) rs374920539 0.00002
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.1993C>T (p.Arg665Trp) rs367902268 0.00002
NM_006231.4(POLE):c.2888G>A (p.Gly963Asp) rs777454763 0.00002
NM_006231.4(POLE):c.350C>T (p.Ser117Leu) rs372057971 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) rs372388555 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly) rs372504703 0.00002
NM_006231.4(POLE):c.626A>G (p.Lys209Arg) rs754559038 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.6765C>G (p.Ile2255Met) rs376336585 0.00002
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln) rs762044635 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.850A>G (p.Lys284Glu) rs568483856 0.00002
NM_006231.4(POLE):c.876G>T (p.Gln292His) rs1324298673 0.00002
NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) rs1048183984 0.00001
NM_006231.4(POLE):c.1070C>T (p.Thr357Ile) rs2043035482 0.00001
NM_006231.4(POLE):c.1078G>A (p.Val360Ile) rs1315083272 0.00001
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1124G>A (p.Arg375Gln) rs778572159 0.00001
NM_006231.4(POLE):c.1193A>G (p.Lys398Arg) rs1402549512 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.1360-20C>G rs781212006 0.00001
NM_006231.4(POLE):c.1370C>T (p.Thr457Met) rs878854842 0.00001
NM_006231.4(POLE):c.1378G>A (p.Val460Met) rs753586583 0.00001
NM_006231.4(POLE):c.1384G>A (p.Asp462Asn) rs765946486 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile) rs980578884 0.00001
NM_006231.4(POLE):c.1447A>G (p.Thr483Ala) rs777736640 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.1524G>T (p.Gln508His) rs762030811 0.00001
NM_006231.4(POLE):c.1704C>G (p.Asp568Glu) rs1202536047 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.1789G>A (p.Glu597Lys) rs768396766 0.00001
NM_006231.4(POLE):c.198G>A (p.Met66Ile) rs764962999 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) rs200621883 0.00001
NM_006231.4(POLE):c.2114G>A (p.Arg705Gln) rs773738016 0.00001
NM_006231.4(POLE):c.2152T>C (p.Tyr718His) rs1267528399 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.2411T>G (p.Leu804Arg) rs201668507 0.00001
NM_006231.4(POLE):c.2562-5T>G rs1461925348 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.2963C>T (p.Ser988Leu) rs138391248 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.3244C>T (p.Arg1082Cys) rs745349336 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3695A>C (p.Lys1232Thr) rs774999422 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.4006-3C>T rs1593748957 0.00001
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.424-2A>G rs1555230117 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.4336G>C (p.Val1446Leu) rs878854869 0.00001
NM_006231.4(POLE):c.4374G>A (p.Trp1458Ter) rs747449574 0.00001
NM_006231.4(POLE):c.4390G>C (p.Ala1464Pro) rs778717624 0.00001
NM_006231.4(POLE):c.4609C>T (p.Leu1537Phe) rs1418237375 0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg) rs577952179 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.4942G>A (p.Glu1648Lys) rs532781183 0.00001
NM_006231.4(POLE):c.4970T>C (p.Ile1657Thr) rs1060500827 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5036G>A (p.Arg1679His) rs748940418 0.00001
NM_006231.4(POLE):c.5068G>A (p.Ala1690Thr) rs757148947 0.00001
NM_006231.4(POLE):c.5104A>G (p.Asn1702Asp) rs1431532125 0.00001
NM_006231.4(POLE):c.5152A>G (p.Ser1718Gly) rs374381852 0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val) rs1064794641 0.00001
NM_006231.4(POLE):c.5341A>G (p.Ser1781Gly) rs1210128859 0.00001
NM_006231.4(POLE):c.5371A>G (p.Thr1791Ala) rs775102459 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5560G>A (p.Ala1854Thr) rs557167678 0.00001
NM_006231.4(POLE):c.577A>G (p.Ser193Gly) rs760588718 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.6041G>A (p.Gly2014Glu) rs757480645 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.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6317A>G (p.Lys2106Arg) rs762471347 0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu) rs1064796126 0.00001
NM_006231.4(POLE):c.6325T>C (p.Cys2109Arg) rs1387352431 0.00001
NM_006231.4(POLE):c.6380G>A (p.Arg2127Gln) rs199613242 0.00001
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn) rs1472336573 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.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_006231.4(POLE):c.725A>G (p.His242Arg) rs767612904 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.796C>T (p.Arg266Ter) rs767666219 0.00001
NM_006231.4(POLE):c.893A>G (p.Tyr298Cys) rs2043057513 0.00001
NM_006231.4(POLE):c.895A>G (p.Met299Val) rs370727992 0.00001
NM_006231.4(POLE):c.901G>A (p.Asp301Asn) rs1060500882 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006231.4(POLE):c.974A>G (p.Lys325Arg) rs1555229291 0.00001
NC_000012.11:g.(?_133201283)_(133209391_?)dup
NC_000012.11:g.(?_133201283)_(133212620_?)dup
NC_000012.11:g.(?_133201283)_(133225668_?)del
NC_000012.11:g.(?_133201283)_(133250303_?)dup
NC_000012.11:g.(?_133210762)_(133263901_?)dup
NC_000012.11:g.(?_133210817)_(133211013_?)dup
NC_000012.11:g.(?_133214590)_(133215894_?)del
NC_000012.11:g.(?_133222176)_133226475del
NC_000012.11:g.(?_133225509)_(133256814_?)dup
NC_000012.11:g.(?_133233712)_(133236105_?)del
NC_000012.11:g.(?_133233712)_(133263901_?)dup
NC_000012.11:g.(?_133233716)_(133263907_?)dup
NC_000012.11:g.(?_133234444)_(133263901_?)dup
NC_000012.11:g.(?_133237545)_(133263901_?)dup
NC_000012.11:g.(?_133241878)_(133263901_?)dup
NC_000012.11:g.(?_133256073)_(133257875_?)dup
NC_000012.11:g.(?_133263834)_(133263907_?)del
NC_000012.12:g.(?_132624677)_(132687335_?)dup
NC_000012.12:g.(?_132624687)_(132626327_?)del
NC_000012.12:g.(?_132624687)_(132626327_?)dup
NC_000012.12:g.(?_132624687)_(132632805_?)dup
NC_000012.12:g.(?_132624687)_(132673717_?)del
NC_000012.12:g.(?_132624687)_(132681289_?)dup
NC_000012.12:g.(?_132624697)_(132626327_?)dup
NC_000012.12:g.(?_132624697)_(132649899_?)dup
NC_000012.12:g.(?_132624697)_(132687315_?)dup
NC_000012.12:g.(?_132632295)_(132687335_?)dup
NC_000012.12:g.(?_132632305)_(132687315_?)dup
NC_000012.12:g.(?_132632309)_(132636030_?)del
NC_000012.12:g.(?_132635882)_(132687315_?)dup
NC_000012.12:g.(?_132638004)_(132687315_?)dup
NC_000012.12:g.(?_132648919)_(132649899_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)dup
NC_000012.12:g.(?_132660959)_(132687325_?)dup
NC_000012.12:g.(?_132664360)_(132687315_?)dup
NC_000012.12:g.(?_132672205)_(132676663_?)del
NC_000012.12:g.(?_132679487)_(132681289_?)del
NC_000012.12:g.(?_132687244)_(132687315_?)dup
NM_006231.3(POLE):c.3229_3241delinsGG (p.Arg1077fs) rs1064792919
NM_006231.3(POLE):c.3347_3350delinsTT (p.Ser1116fs) rs1555225303
NM_006231.3(POLE):c.63-?_1794+?dup1732
NM_006231.3(POLE):c.737_753delinsA (p.Val246fs) rs1064792920
NM_006231.4(POLE):c.1008T>A (p.Asn336Lys)
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1021G>C (p.Ala341Pro) rs137860861
NM_006231.4(POLE):c.1025A>T (p.His342Leu) rs2136012061
NM_006231.4(POLE):c.1037G>A (p.Arg346Lys) rs1565975676
NM_006231.4(POLE):c.1067C>T (p.Pro356Leu) rs1593077523
NM_006231.4(POLE):c.1073T>C (p.Ile358Thr) rs1593077499
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1123C>T (p.Arg375Trp) rs556789278
NM_006231.4(POLE):c.1135C>T (p.His379Tyr)
NM_006231.4(POLE):c.1142T>A (p.Leu381Gln)
NM_006231.4(POLE):c.1156G>A (p.Glu386Lys) rs893340262
NM_006231.4(POLE):c.1161A>G (p.Ile387Met)
NM_006231.4(POLE):c.1168del (p.Gln390fs)
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1175A>G (p.Asp392Gly) rs878854840
NM_006231.4(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.4(POLE):c.1182G>C (p.Gln394His) rs2136008752
NM_006231.4(POLE):c.1227-2A>T rs1057517609
NM_006231.4(POLE):c.1267A>G (p.Asn423Asp)
NM_006231.4(POLE):c.1268A>G (p.Asn423Ser)
NM_006231.4(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.4(POLE):c.1294C>G (p.Leu432Val) rs750475909
NM_006231.4(POLE):c.1324G>C (p.Glu442Gln)
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.4(POLE):c.1393G>T (p.Ala465Ser) rs771526654
NM_006231.4(POLE):c.1453A>G (p.Ile485Val) rs1593072187
NM_006231.4(POLE):c.1455T>G (p.Ile485Met) rs878854843
NM_006231.4(POLE):c.1460T>C (p.Met487Thr) rs2042969483
NM_006231.4(POLE):c.1519G>C (p.Val507Leu)
NM_006231.4(POLE):c.1523A>G (p.Gln508Arg) rs1003970392
NM_006231.4(POLE):c.1553A>G (p.Asn518Ser) rs553123678
NM_006231.4(POLE):c.1662C>A (p.Ser554Arg) rs752219944
NM_006231.4(POLE):c.1686+3G>A rs1060500868
NM_006231.4(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.4(POLE):c.1726A>G (p.Lys576Glu) rs745745342
NM_006231.4(POLE):c.1738C>T (p.His580Tyr) rs371149234
NM_006231.4(POLE):c.1742C>G (p.Ala581Gly) rs753890723
NM_006231.4(POLE):c.1756G>A (p.Glu586Lys) rs878854845
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1909A>G (p.Thr637Ala) rs2135979008
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1946C>A (p.Ala649Asp) rs2042854832
NM_006231.4(POLE):c.2026A>G (p.Met676Val) rs1447713785
NM_006231.4(POLE):c.2085C>G (p.Phe695Leu)
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2090C>A (p.Pro697His) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.4(POLE):c.2114G>C (p.Arg705Pro) rs773738016
NM_006231.4(POLE):c.2174-12C>G rs192222479
NM_006231.4(POLE):c.2176T>G (p.Tyr726Asp)
NM_006231.4(POLE):c.2218G>A (p.Glu740Lys) rs1331682009
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.224A>G (p.Asp75Gly) rs2043147716
NM_006231.4(POLE):c.2253C>G (p.Asn751Lys) rs1239144686
NM_006231.4(POLE):c.2270C>T (p.Thr757Ile) rs1565964638
NM_006231.4(POLE):c.230G>A (p.Arg77His) rs774404704
NM_006231.4(POLE):c.2320-19A>G
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del) rs1064796065
NM_006231.4(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.238A>G (p.Ser80Gly)
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.2468+2dup rs1555226665
NM_006231.4(POLE):c.2522A>G (p.Asn841Ser) rs2042746339
NM_006231.4(POLE):c.2544G>C (p.Glu848Asp) rs374905660
NM_006231.4(POLE):c.254A>G (p.Tyr85Cys) rs1565981016
NM_006231.4(POLE):c.2687T>C (p.Met896Thr) rs1385034253
NM_006231.4(POLE):c.2711G>T (p.Gly904Val) rs1332965505
NM_006231.4(POLE):c.2770C>A (p.Arg924Ser) rs369751686
NM_006231.4(POLE):c.2783G>C (p.Ser928Thr) rs2042683635
NM_006231.4(POLE):c.2863A>G (p.Arg955Gly) rs2042681407
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe) rs1593776406
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs) rs1593776393
NM_006231.4(POLE):c.2872G>T (p.Val958Leu) rs1443635519
NM_006231.4(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.4(POLE):c.3045C>A (p.Asp1015Glu) rs753809068
NM_006231.4(POLE):c.3060G>A (p.Lys1020=) rs878854858
NM_006231.4(POLE):c.3072G>T (p.Met1024Ile) rs1060500791
NM_006231.4(POLE):c.3107A>T (p.Asn1036Ile) rs2138678125
NM_006231.4(POLE):c.3124A>G (p.Lys1042Glu) rs2042630923
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu) rs201744227
NM_006231.4(POLE):c.3265G>C (p.Val1089Leu)
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.4(POLE):c.3374G>A (p.Arg1125Gln) rs1565953956
NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly) rs2042569982
NM_006231.4(POLE):c.3437C>G (p.Thr1146Ser) rs1555225192
NM_006231.4(POLE):c.3459+2T>C rs1057517634
NM_006231.4(POLE):c.3494A>C (p.Asp1165Ala)
NM_006231.4(POLE):c.3566T>A (p.Leu1189Gln)
NM_006231.4(POLE):c.3583_4150-1613del
NM_006231.4(POLE):c.3589_3590insGGTC (p.Met1197fs) rs2138615789
NM_006231.4(POLE):c.3590T>G (p.Met1197Arg)
NM_006231.4(POLE):c.3590delinsGGTCTGA (p.Met1197delinsArgSerGlu) rs1555224131
NM_006231.4(POLE):c.3608A>T (p.Asp1203Val) rs2042383988
NM_006231.4(POLE):c.3629C>T (p.Pro1210Leu) rs1593751410
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) rs756246229
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.3787A>G (p.Thr1263Ala) rs1025864203
NM_006231.4(POLE):c.3858_3881del (p.Ala1288_Leu1295del) rs759449495
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro) rs766058852
NM_006231.4(POLE):c.3927T>A (p.Asp1309Glu)
NM_006231.4(POLE):c.4006-1G>T rs1057519256
NM_006231.4(POLE):c.4066C>G (p.His1356Asp) rs557732922
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738
NM_006231.4(POLE):c.4102G>C (p.Val1368Leu) rs770558983
NM_006231.4(POLE):c.412G>C (p.Asp138His) rs1593085858
NM_006231.4(POLE):c.4157G>C (p.Arg1386Pro) rs969355093
NM_006231.4(POLE):c.4188_4192del (p.Asn1396fs) rs2042216340
NM_006231.4(POLE):c.4188_4195delinsA (p.Asn1396fs) rs1555223097
NM_006231.4(POLE):c.4217T>G (p.Met1406Arg) rs749250454
NM_006231.4(POLE):c.423+2_423+4delinsAGT rs2043133267
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.4(POLE):c.4265A>G (p.Asp1422Gly) rs2138558884
NM_006231.4(POLE):c.4295C>A (p.Pro1432Gln) rs371712284
NM_006231.4(POLE):c.4331T>C (p.Val1444Ala) rs767189495
NM_006231.4(POLE):c.4370G>A (p.Gly1457Asp) rs776534749
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter) rs778238908
NM_006231.4(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.4(POLE):c.4495C>A (p.Leu1499Ile) rs1555222907
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.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4558A>G (p.Ser1520Gly) rs1021500357
NM_006231.4(POLE):c.4585C>G (p.Leu1529Val) rs1060504041
NM_006231.4(POLE):c.4631dup (p.Leu1545fs) rs1555222731
NM_006231.4(POLE):c.4650A>G (p.Lys1550=) rs2042183278
NM_006231.4(POLE):c.4651C>T (p.His1551Tyr) rs750079093
NM_006231.4(POLE):c.4666C>G (p.Arg1556Gly) rs768741587
NM_006231.4(POLE):c.4729-11C>T rs1555222633
NM_006231.4(POLE):c.4762C>G (p.Gln1588Glu)
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.484G>C (p.Asp162His) rs759492756
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5011C>T (p.Leu1671Phe) rs2042164674
NM_006231.4(POLE):c.5108G>C (p.Cys1703Ser) rs961736994
NM_006231.4(POLE):c.5147T>G (p.Ile1716Ser) rs2042160664
NM_006231.4(POLE):c.5151del (p.Asn1717fs) rs1565936691
NM_006231.4(POLE):c.5179G>T (p.Val1727Leu) rs2042151724
NM_006231.4(POLE):c.5194C>G (p.Gln1732Glu) rs2042151210
NM_006231.4(POLE):c.522GAA[2] (p.Lys176del) rs1060500793
NM_006231.4(POLE):c.5233G>A (p.Val1745Ile) rs1593728098
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.4(POLE):c.532A>G (p.Arg178Gly) rs2043122950
NM_006231.4(POLE):c.5333C>T (p.Ala1778Val) rs2138523727
NM_006231.4(POLE):c.5398G>T (p.Val1800Leu) rs199777048
NM_006231.4(POLE):c.5432A>G (p.Asn1811Ser) rs1565933181
NM_006231.4(POLE):c.5437T>C (p.Tyr1813His) rs1180742425
NM_006231.4(POLE):c.5465A>G (p.Tyr1822Cys) rs1002181208
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5549T>A (p.Leu1850Gln) rs1565932919
NM_006231.4(POLE):c.5558T>C (p.Ile1853Thr) rs1057519257
NM_006231.4(POLE):c.5626A>G (p.Lys1876Glu)
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.5722T>A (p.Ser1908Thr) rs2042024407
NM_006231.4(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.4(POLE):c.5779G>C (p.Gly1927Arg) rs2138485262
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del) rs757774039
NM_006231.4(POLE):c.5949G>T (p.Leu1983Phe) rs2041990225
NM_006231.4(POLE):c.5965del (p.Ala1989fs) rs1555221193
NM_006231.4(POLE):c.5995A>G (p.Ile1999Val) rs2041988946
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6142A>T (p.Ile2048Phe) rs2138461658
NM_006231.4(POLE):c.6200C>T (p.Thr2067Ile)
NM_006231.4(POLE):c.6207G>T (p.Lys2069Asn) rs1593708047
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.4(POLE):c.6247C>T (p.Leu2083Phe) rs1022668614
NM_006231.4(POLE):c.6252del (p.Glu2085fs) rs2138460253
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.6496G>A (p.Asp2166Asn) rs759795841
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6531+5G>T rs368538240
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del) rs1188033351
NM_006231.4(POLE):c.6658-1G>A rs1555300846
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln) rs376140352
NM_006231.4(POLE):c.680C>T (p.Pro227Leu) rs1060500784
NM_006231.4(POLE):c.6839A>G (p.Lys2280Arg) rs2138421700
NM_006231.4(POLE):c.727T>G (p.Trp243Gly) rs2136018853
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.802-1G>C rs1555229470
NM_006231.4(POLE):c.824A>G (p.Asp275Gly) rs1565976801
NM_006231.4(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.4(POLE):c.826A>G (p.Ile276Val) rs1280169933
NM_006231.4(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006231.4(POLE):c.883A>G (p.Met295Val)
NM_006231.4(POLE):c.887T>C (p.Ile296Thr)
NM_006231.4(POLE):c.916C>T (p.Leu306Phe) rs1343048638
NM_006231.4(POLE):c.923C>T (p.Thr308Ile)
NM_006231.4(POLE):c.936T>G (p.Ile312Met) rs1555229316
NM_006231.4(POLE):c.950T>C (p.Ile317Thr) rs1060500783
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724
NM_006231.4(POLE):c.95T>C (p.Leu32Pro) rs878854900
NM_006231.4(POLE):c.983A>T (p.Tyr328Phe) rs1339375099

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