ClinVar Miner

List of variants in gene POLE reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 757
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
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.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
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.761C>T (p.Pro254Leu) rs200211438 0.00023
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
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.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
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.3646G>A (p.Gly1216Ser) rs200114024 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.4370G>T (p.Gly1457Val) rs776534749 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.113G>A (p.Ser38Asn) rs141424313 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 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.6658-7C>A rs531482240 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.556G>A (p.Ala186Thr) rs375213599 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.1780A>G (p.Thr594Ala) rs762067222 0.00009
NM_006231.4(POLE):c.3229C>T (p.Arg1077Cys) rs149777592 0.00009
NM_006231.4(POLE):c.3725C>T (p.Ser1242Phe) rs373213156 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.4889G>A (p.Arg1630Gln) rs750180239 0.00009
NM_006231.4(POLE):c.4892G>A (p.Arg1631His) rs775590365 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.446A>G (p.Lys149Arg) rs374428362 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.5480C>T (p.Ser1827Leu) rs763031537 0.00008
NM_006231.4(POLE):c.5596G>A (p.Ala1866Thr) rs377662540 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.3968C>T (p.Ala1323Val) rs550525366 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006231.4(POLE):c.1106+20A>G rs200322118 0.00006
NM_006231.4(POLE):c.122C>T (p.Thr41Met) rs148269473 0.00006
NM_006231.4(POLE):c.2039G>A (p.Arg680His) rs763522976 0.00006
NM_006231.4(POLE):c.3620C>T (p.Pro1207Leu) rs144086049 0.00006
NM_006231.4(POLE):c.3914G>A (p.Gly1305Glu) rs761617609 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.5553-12C>G rs766922669 0.00006
NM_006231.4(POLE):c.6040G>A (p.Gly2014Arg) rs767749736 0.00006
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006231.4(POLE):c.6322G>A (p.Val2108Met) rs776551240 0.00006
NM_006231.4(POLE):c.6446G>T (p.Arg2149Leu) rs201165149 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 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.2818A>G (p.Met940Val) rs148382941 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.4862T>G (p.Val1621Gly) rs534387116 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.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1264C>T (p.His422Tyr) rs745356467 0.00004
NM_006231.4(POLE):c.1336C>T (p.Arg446Trp) rs200403177 0.00004
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu) rs781360770 0.00004
NM_006231.4(POLE):c.1411A>G (p.Met471Val) rs749021187 0.00004
NM_006231.4(POLE):c.1537A>G (p.Asn513Asp) rs200136603 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.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) rs374800058 0.00004
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.2879A>G (p.Asn960Ser) rs746311547 0.00004
NM_006231.4(POLE):c.2993C>T (p.Thr998Met) rs989886155 0.00004
NM_006231.4(POLE):c.3595G>A (p.Glu1199Lys) rs1012418859 0.00004
NM_006231.4(POLE):c.3778G>A (p.Ala1260Thr) rs143858927 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 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.4556G>A (p.Arg1519His) rs376530977 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.4739G>A (p.Arg1580Gln) rs201950040 0.00004
NM_006231.4(POLE):c.5174T>C (p.Val1725Ala) rs1064796427 0.00004
NM_006231.4(POLE):c.5515C>T (p.Arg1839Cys) rs141519273 0.00004
NM_006231.4(POLE):c.5578G>C (p.Gly1860Arg) rs144343630 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.5678+5G>A rs779223088 0.00004
NM_006231.4(POLE):c.5811+5G>A rs562946055 0.00004
NM_006231.4(POLE):c.6112G>A (p.Glu2038Lys) rs181570274 0.00004
NM_006231.4(POLE):c.6409G>A (p.Glu2137Lys) rs879783561 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.6508T>C (p.Cys2170Arg) rs138094751 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.6575C>T (p.Ala2192Val) rs756301031 0.00004
NM_006231.4(POLE):c.6767G>C (p.Gly2256Ala) rs749707316 0.00004
NM_006231.4(POLE):c.863C>G (p.Ala288Gly) rs771619667 0.00004
NM_006231.4(POLE):c.912C>T (p.Gly304=) rs1064794932 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.1450A>G (p.Ile484Val) rs1027889796 0.00003
NM_006231.4(POLE):c.1471G>A (p.Glu491Lys) rs776770625 0.00003
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn) rs753660907 0.00003
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln) rs766276875 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.1879G>A (p.Val627Met) rs747929590 0.00003
NM_006231.4(POLE):c.2016G>A (p.Arg672=) rs991583405 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.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.3740C>T (p.Pro1247Leu) rs572986717 0.00003
NM_006231.4(POLE):c.3970C>T (p.Arg1324Cys) rs779464847 0.00003
NM_006231.4(POLE):c.4050C>T (p.Leu1350=) rs764888601 0.00003
NM_006231.4(POLE):c.4091G>A (p.Arg1364His) rs369171111 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.4680C>G (p.Asp1560Glu) rs774425403 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006231.4(POLE):c.5339C>G (p.Ala1780Gly) rs1024088828 0.00003
NM_006231.4(POLE):c.5467C>T (p.Arg1823Cys) rs753627422 0.00003
NM_006231.4(POLE):c.5609G>A (p.Arg1870His) rs758619238 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.6068C>T (p.Thr2023Ile) rs771628123 0.00003
NM_006231.4(POLE):c.6119C>T (p.Ala2040Val) rs5745021 0.00003
NM_006231.4(POLE):c.629A>G (p.Lys210Arg) rs765826619 0.00003
NM_006231.4(POLE):c.6392G>A (p.Arg2131His) rs141954509 0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=) rs1057524549 0.00003
NM_006231.4(POLE):c.6676G>A (p.Gly2226Arg) rs766291093 0.00003
NM_006231.4(POLE):c.6818C>T (p.Thr2273Ile) rs779145729 0.00003
NM_006231.4(POLE):c.710A>G (p.Lys237Arg) rs879762286 0.00003
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.106G>C (p.Glu36Gln) rs370268888 0.00002
NM_006231.4(POLE):c.110G>A (p.Arg37Gln) rs377002290 0.00002
NM_006231.4(POLE):c.1181A>G (p.Gln394Arg) rs1014444345 0.00002
NM_006231.4(POLE):c.1312G>A (p.Glu438Lys) rs1036647345 0.00002
NM_006231.4(POLE):c.1618G>A (p.Val540Ile) rs770307281 0.00002
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) rs373000452 0.00002
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys) rs1377657524 0.00002
NM_006231.4(POLE):c.1897A>C (p.Asn633His) rs141657198 0.00002
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.1949C>T (p.Thr650Ile) rs115559742 0.00002
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868 0.00002
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091 0.00002
NM_006231.4(POLE):c.2339C>T (p.Ser780Leu) rs778288256 0.00002
NM_006231.4(POLE):c.2473C>T (p.Arg825Cys) rs200283666 0.00002
NM_006231.4(POLE):c.2527A>G (p.Ile843Val) rs780758461 0.00002
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.2888G>A (p.Gly963Asp) rs777454763 0.00002
NM_006231.4(POLE):c.3407G>A (p.Arg1136Gln) rs761355093 0.00002
NM_006231.4(POLE):c.350C>T (p.Ser117Leu) rs372057971 0.00002
NM_006231.4(POLE):c.355T>A (p.Phe119Ile) rs879254235 0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu) rs772686048 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00002
NM_006231.4(POLE):c.3818G>A (p.Arg1273Gln) rs377324348 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4006-8C>A rs745486661 0.00002
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304 0.00002
NM_006231.4(POLE):c.4102G>A (p.Val1368Met) rs770558983 0.00002
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579 0.00002
NM_006231.4(POLE):c.4589A>G (p.Tyr1530Cys) rs761715703 0.00002
NM_006231.4(POLE):c.4738C>T (p.Arg1580Trp) rs192908615 0.00002
NM_006231.4(POLE):c.4756G>A (p.Ala1586Thr) rs746266857 0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) rs372388555 0.00002
NM_006231.4(POLE):c.4876C>T (p.Arg1626Cys) rs753713315 0.00002
NM_006231.4(POLE):c.4900C>T (p.Arg1634Cys) rs769762523 0.00002
NM_006231.4(POLE):c.5468G>A (p.Arg1823His) rs767747669 0.00002
NM_006231.4(POLE):c.553G>A (p.Asp185Asn) rs369506007 0.00002
NM_006231.4(POLE):c.5566T>C (p.Phe1856Leu) rs1060500846 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.5770G>A (p.Gly1924Arg) rs371862779 0.00002
NM_006231.4(POLE):c.5776A>G (p.Lys1926Glu) rs781099396 0.00002
NM_006231.4(POLE):c.6232C>T (p.Arg2078Trp) rs1060500867 0.00002
NM_006231.4(POLE):c.6328A>G (p.Lys2110Glu) rs746736600 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys) rs369549727 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 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.6803C>T (p.Ser2268Leu) rs373791036 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.910-5G>A rs750101293 0.00002
NM_006231.4(POLE):c.100C>T (p.Arg34Cys) rs771051323 0.00001
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746 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.1111T>C (p.Phe371Leu) rs1565975308 0.00001
NM_006231.4(POLE):c.1124G>A (p.Arg375Gln) rs778572159 0.00001
NM_006231.4(POLE):c.1191C>G (p.Tyr397Ter) rs1208085896 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.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1322C>T (p.Pro441Leu) rs775340163 0.00001
NM_006231.4(POLE):c.1346C>T (p.Thr449Met) rs780299012 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.1447A>G (p.Thr483Ala) rs777736640 0.00001
NM_006231.4(POLE):c.1468G>A (p.Asp490Asn) rs755463796 0.00001
NM_006231.4(POLE):c.1481G>A (p.Arg494Gln) rs192173820 0.00001
NM_006231.4(POLE):c.1516A>G (p.Met506Val) rs773634913 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.1567G>C (p.Glu523Gln) rs1275423655 0.00001
NM_006231.4(POLE):c.1573A>C (p.Asn525His) rs751164982 0.00001
NM_006231.4(POLE):c.1663G>A (p.Asp555Asn) rs778763440 0.00001
NM_006231.4(POLE):c.1669C>T (p.Pro557Ser) rs754985761 0.00001
NM_006231.4(POLE):c.1687-3T>G rs148115738 0.00001
NM_006231.4(POLE):c.1736G>A (p.Arg579His) rs149296223 0.00001
NM_006231.4(POLE):c.1794G>A (p.Glu598=) rs1379550837 0.00001
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys) rs752076074 0.00001
NM_006231.4(POLE):c.1856G>A (p.Cys619Tyr) rs752456199 0.00001
NM_006231.4(POLE):c.1935G>A (p.Met645Ile) rs561707898 0.00001
NM_006231.4(POLE):c.2051A>G (p.His684Arg) rs369127106 0.00001
NM_006231.4(POLE):c.2075C>T (p.Ser692Leu) rs1060500776 0.00001
NM_006231.4(POLE):c.2087C>T (p.Pro696Leu) rs766037063 0.00001
NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) rs200621883 0.00001
NM_006231.4(POLE):c.2134C>T (p.Arg712Cys) rs749194160 0.00001
NM_006231.4(POLE):c.2140G>A (p.Glu714Lys) rs777857048 0.00001
NM_006231.4(POLE):c.2147C>T (p.Ala716Val) rs567031389 0.00001
NM_006231.4(POLE):c.2155G>A (p.Glu719Lys) rs765254190 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.2183G>A (p.Arg728Gln) rs762552065 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.2263G>A (p.Val755Met) rs1222472060 0.00001
NM_006231.4(POLE):c.2284C>T (p.Arg762Trp) rs1064794759 0.00001
NM_006231.4(POLE):c.2321T>G (p.Val774Gly) rs771591846 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.2342C>T (p.Ala781Val) rs1060500855 0.00001
NM_006231.4(POLE):c.2350G>A (p.Glu784Lys) rs147427999 0.00001
NM_006231.4(POLE):c.2377C>T (p.Arg793Cys) rs376624527 0.00001
NM_006231.4(POLE):c.239G>A (p.Ser80Asn) rs1064795406 0.00001
NM_006231.4(POLE):c.241G>A (p.Ala81Thr) rs749720207 0.00001
NM_006231.4(POLE):c.2459T>C (p.Met820Thr) rs767460640 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 0.00001
NM_006231.4(POLE):c.2551G>A (p.Glu851Lys) rs903152944 0.00001
NM_006231.4(POLE):c.2562-2A>C rs751662353 0.00001
NM_006231.4(POLE):c.259A>G (p.Ile87Val) rs1223305093 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.2668A>G (p.Ile890Val) rs749012938 0.00001
NM_006231.4(POLE):c.2706+5G>A rs375931088 0.00001
NM_006231.4(POLE):c.271G>A (p.Gly91Arg) rs1316316435 0.00001
NM_006231.4(POLE):c.2764G>A (p.Val922Ile) rs551966935 0.00001
NM_006231.4(POLE):c.2887G>A (p.Gly963Ser) rs751237672 0.00001
NM_006231.4(POLE):c.2927G>A (p.Arg976His) rs878854857 0.00001
NM_006231.4(POLE):c.2963C>T (p.Ser988Leu) rs138391248 0.00001
NM_006231.4(POLE):c.305C>T (p.Pro102Leu) rs770323795 0.00001
NM_006231.4(POLE):c.3061-4C>G rs201517516 0.00001
NM_006231.4(POLE):c.3109C>T (p.Arg1037Cys) rs948001596 0.00001
NM_006231.4(POLE):c.3130G>C (p.Glu1044Gln) rs1060500869 0.00001
NM_006231.4(POLE):c.3176G>A (p.Arg1059His) rs751425952 0.00001
NM_006231.4(POLE):c.3196G>A (p.Asp1066Asn) rs1060500851 0.00001
NM_006231.4(POLE):c.320C>T (p.Ala107Val) rs878854860 0.00001
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys) rs145680387 0.00001
NM_006231.4(POLE):c.3235A>G (p.Ile1079Val) rs775002004 0.00001
NM_006231.4(POLE):c.3244C>T (p.Arg1082Cys) rs745349336 0.00001
NM_006231.4(POLE):c.3269C>T (p.Thr1090Met) rs1030360914 0.00001
NM_006231.4(POLE):c.3272A>G (p.Glu1091Gly) rs1409558568 0.00001
NM_006231.4(POLE):c.3281T>C (p.Ile1094Thr) rs372516267 0.00001
NM_006231.4(POLE):c.3332G>T (p.Arg1111Leu) rs114315196 0.00001
NM_006231.4(POLE):c.3355C>T (p.Leu1119Phe) rs376921543 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 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.3443C>G (p.Pro1148Arg) rs1060500886 0.00001
NM_006231.4(POLE):c.3478C>T (p.Arg1160Cys) rs777401444 0.00001
NM_006231.4(POLE):c.3479G>A (p.Arg1160His) rs757902862 0.00001
NM_006231.4(POLE):c.347T>C (p.Val116Ala) rs771744496 0.00001
NM_006231.4(POLE):c.3495C>G (p.Asp1165Glu) rs753667513 0.00001
NM_006231.4(POLE):c.3506A>G (p.Lys1169Arg) rs374456899 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.3817C>T (p.Arg1273Trp) rs758784435 0.00001
NM_006231.4(POLE):c.3833A>G (p.Lys1278Arg) rs1209509734 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.3856C>T (p.Arg1286Cys) rs373170535 0.00001
NM_006231.4(POLE):c.3870G>C (p.Arg1290Ser) rs1206673155 0.00001
NM_006231.4(POLE):c.3880C>T (p.Arg1294Cys) rs770966534 0.00001
NM_006231.4(POLE):c.3883C>A (p.Leu1295Met) rs1184724406 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.3938C>T (p.Thr1313Met) rs949243552 0.00001
NM_006231.4(POLE):c.3959G>A (p.Arg1320Gln) rs772663586 0.00001
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys) rs751555395 0.00001
NM_006231.4(POLE):c.4018A>G (p.Ser1340Gly) rs1248556901 0.00001
NM_006231.4(POLE):c.4046C>T (p.Ala1349Val) rs536988344 0.00001
NM_006231.4(POLE):c.4124C>T (p.Ala1375Val) rs766168647 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.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4198T>C (p.Tyr1400His) rs761011442 0.00001
NM_006231.4(POLE):c.4225G>A (p.Glu1409Lys) rs1060500845 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.4318C>T (p.His1440Tyr) rs373785842 0.00001
NM_006231.4(POLE):c.4339G>A (p.Val1447Ile) rs1565939714 0.00001
NM_006231.4(POLE):c.4375G>C (p.Glu1459Gln) rs778238908 0.00001
NM_006231.4(POLE):c.4390G>C (p.Ala1464Pro) rs778717624 0.00001
NM_006231.4(POLE):c.4396G>C (p.Glu1466Gln) rs1258004616 0.00001
NM_006231.4(POLE):c.4411C>T (p.Arg1471Cys) rs528264567 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.4453C>T (p.Arg1485Cys) rs969429633 0.00001
NM_006231.4(POLE):c.4454G>A (p.Arg1485His) rs973405989 0.00001
NM_006231.4(POLE):c.4480C>G (p.Gln1494Glu) rs1443837551 0.00001
NM_006231.4(POLE):c.449G>A (p.Arg150Gln) rs780775837 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 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.4667G>A (p.Arg1556Gln) rs762965148 0.00001
NM_006231.4(POLE):c.4696A>G (p.Arg1566Gly) rs1365206650 0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127 0.00001
NM_006231.4(POLE):c.4735C>T (p.Arg1579Cys) rs1060500802 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_006231.4(POLE):c.475A>G (p.Thr159Ala) rs774952016 0.00001
NM_006231.4(POLE):c.4812G>C (p.Glu1604Asp) rs1064794898 0.00001
NM_006231.4(POLE):c.4852A>G (p.Asn1618Asp) rs377406943 0.00001
NM_006231.4(POLE):c.4891C>T (p.Arg1631Cys) rs565413729 0.00001
NM_006231.4(POLE):c.490G>A (p.Val164Ile) rs770769315 0.00001
NM_006231.4(POLE):c.4942G>A (p.Glu1648Lys) rs532781183 0.00001
NM_006231.4(POLE):c.4952+5G>A rs1555222548 0.00001
NM_006231.4(POLE):c.4996A>G (p.Thr1666Ala) rs761329946 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.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5090A>G (p.Lys1697Arg) rs879254207 0.00001
NM_006231.4(POLE):c.5125G>A (p.Asp1709Asn) rs572502366 0.00001
NM_006231.4(POLE):c.5131C>A (p.Gln1711Lys) rs774619692 0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val) rs1064794641 0.00001
NM_006231.4(POLE):c.5254G>A (p.Asp1752Asn) rs1335665224 0.00001
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile) rs878854882 0.00001
NM_006231.4(POLE):c.5305A>G (p.Met1769Val) rs1449742140 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5332G>A (p.Ala1778Thr) rs755346486 0.00001
NM_006231.4(POLE):c.5336C>T (p.Pro1779Leu) rs766086682 0.00001
NM_006231.4(POLE):c.5340C>T (p.Ala1780=) rs1291600656 0.00001
NM_006231.4(POLE):c.5347G>A (p.Asp1783Asn) rs149893630 0.00001
NM_006231.4(POLE):c.5361del (p.Cys1788fs) rs752558475 0.00001
NM_006231.4(POLE):c.5390G>T (p.Ser1797Ile) rs749755939 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5438A>G (p.Tyr1813Cys) rs752559134 0.00001
NM_006231.4(POLE):c.5454G>A (p.Val1818=) rs1046972573 0.00001
NM_006231.4(POLE):c.547G>A (p.Ala183Thr) rs993340577 0.00001
NM_006231.4(POLE):c.5507C>T (p.Ala1836Val) rs780776704 0.00001
NM_006231.4(POLE):c.5525A>G (p.His1842Arg) rs1060500795 0.00001
NM_006231.4(POLE):c.5560G>A (p.Ala1854Thr) rs557167678 0.00001
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) rs184253572 0.00001
NM_006231.4(POLE):c.5587G>A (p.Val1863Ile) rs780000018 0.00001
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr) rs896266569 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5611A>G (p.Ile1871Val) rs752955761 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_006231.4(POLE):c.5635C>T (p.Arg1879Cys) rs767012802 0.00001
NM_006231.4(POLE):c.5678+1G>A rs138748289 0.00001
NM_006231.4(POLE):c.5726G>A (p.Arg1909Gln) rs201455049 0.00001
NM_006231.4(POLE):c.577A>G (p.Ser193Gly) rs760588718 0.00001
NM_006231.4(POLE):c.5795G>A (p.Arg1932His) rs778190944 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.588G>T (p.Gln196His) rs878854886 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.590G>C (p.Arg197Thr) rs528361482 0.00001
NM_006231.4(POLE):c.5914G>A (p.Val1972Met) rs774726229 0.00001
NM_006231.4(POLE):c.595G>A (p.Gly199Ser) rs776540681 0.00001
NM_006231.4(POLE):c.6019G>A (p.Val2007Met) rs748106601 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.6083G>C (p.Arg2028Thr) rs749132017 0.00001
NM_006231.4(POLE):c.6107A>T (p.Glu2036Val) rs751818136 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6233G>A (p.Arg2078Gln) rs745721448 0.00001
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399 0.00001
NM_006231.4(POLE):c.6286C>G (p.Leu2096Val) rs1049603207 0.00001
NM_006231.4(POLE):c.6301G>A (p.Ala2101Thr) rs1395533975 0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu) rs1064796126 0.00001
NM_006231.4(POLE):c.6323T>C (p.Val2108Ala) rs370363095 0.00001
NM_006231.4(POLE):c.632T>C (p.Ile211Thr) rs1555229716 0.00001
NM_006231.4(POLE):c.6335T>C (p.Leu2112Pro) rs1429053091 0.00001
NM_006231.4(POLE):c.6350A>G (p.Asn2117Ser) rs771404261 0.00001
NM_006231.4(POLE):c.6391C>T (p.Arg2131Cys) rs369748519 0.00001
NM_006231.4(POLE):c.6451T>A (p.Tyr2151Asn) rs1004476069 0.00001
NM_006231.4(POLE):c.6466G>A (p.Val2156Ile) rs542978638 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6496G>T (p.Asp2166Tyr) rs759795841 0.00001
NM_006231.4(POLE):c.6610G>A (p.Val2204Met) rs1060500871 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.662T>C (p.Met221Thr) rs755607944 0.00001
NM_006231.4(POLE):c.6631C>T (p.Leu2211=) rs769635764 0.00001
NM_006231.4(POLE):c.6646C>T (p.Leu2216=) rs1220762553 0.00001
NM_006231.4(POLE):c.664C>A (p.Arg222Ser) rs767503360 0.00001
NM_006231.4(POLE):c.6658-2A>G rs751217859 0.00001
NM_006231.4(POLE):c.665G>A (p.Arg222His) rs1060500862 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006231.4(POLE):c.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_006231.4(POLE):c.710A>C (p.Lys237Thr) rs879762286 0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00001
NM_006231.4(POLE):c.73G>A (p.Ala25Thr) rs773204331 0.00001
NM_006231.4(POLE):c.76A>G (p.Thr26Ala) rs182282150 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.805C>G (p.Pro269Ala) rs757438555 0.00001
NM_006231.4(POLE):c.882G>A (p.Met294Ile) rs774328855 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.90G>A (p.Ser30=) rs369224511 0.00001
NM_006231.4(POLE):c.910-13T>C rs759098283 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006231.4(POLE):c.983A>G (p.Tyr328Cys) rs1339375099 0.00001
NM_006231.3(POLE):c.206_211delCCGAGA rs1555230325
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.101G>T (p.Arg34Leu) rs747005851
NM_006231.4(POLE):c.1020+1G>T rs1064794748
NM_006231.4(POLE):c.1021-20C>G rs1064796140
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.4(POLE):c.1037G>A (p.Arg346Lys) rs1565975676
NM_006231.4(POLE):c.1088A>G (p.Asn363Ser) rs879254173
NM_006231.4(POLE):c.1107G>A (p.Trp369Ter) rs1171878347
NM_006231.4(POLE):c.1129G>A (p.Ala377Thr) rs754508108
NM_006231.4(POLE):c.112A>T (p.Ser38Cys) rs879254247
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.4(POLE):c.1142T>A (p.Leu381Gln)
NM_006231.4(POLE):c.1147A>G (p.Met383Val) rs879254238
NM_006231.4(POLE):c.1156G>A (p.Glu386Lys) rs893340262
NM_006231.4(POLE):c.1158G>C (p.Glu386Asp) rs2136009028
NM_006231.4(POLE):c.116A>G (p.Gln39Arg)
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1187A>G (p.Glu396Gly) rs2136008663
NM_006231.4(POLE):c.1213A>C (p.Met405Leu) rs1064796182
NM_006231.4(POLE):c.1257G>A (p.Val419=) rs1565973352
NM_006231.4(POLE):c.125A>T (p.Asp42Val) rs749886101
NM_006231.4(POLE):c.1291_1311dup (p.Lys431_Val437dup) rs1593073188
NM_006231.4(POLE):c.1294C>G (p.Leu432Val) rs750475909
NM_006231.4(POLE):c.1297G>T (p.Gly433Cys) rs1190891892
NM_006231.4(POLE):c.1303G>A (p.Asp435Asn) rs879254276
NM_006231.4(POLE):c.1360-6C>A rs139836643
NM_006231.4(POLE):c.1372T>A (p.Tyr458Asn) rs879254259
NM_006231.4(POLE):c.1376C>G (p.Ser459Cys) rs765702675
NM_006231.4(POLE):c.138G>C (p.Leu46Phe) rs200611521
NM_006231.4(POLE):c.1405C>G (p.Leu469Val) rs368303888
NM_006231.4(POLE):c.1416G>C (p.Lys472Asn)
NM_006231.4(POLE):c.1423C>T (p.His475Tyr)
NM_006231.4(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.4(POLE):c.1492G>C (p.Gly498Arg) rs1593071383
NM_006231.4(POLE):c.1496C>G (p.Thr499Ser) rs2042961569
NM_006231.4(POLE):c.1505A>C (p.Glu502Ala) rs2135994134
NM_006231.4(POLE):c.1544T>C (p.Ile515Thr) rs2135993840
NM_006231.4(POLE):c.155G>C (p.Arg52Pro)
NM_006231.4(POLE):c.1571T>A (p.Phe524Tyr) rs1234183382
NM_006231.4(POLE):c.1628A>C (p.His543Pro) rs1555228282
NM_006231.4(POLE):c.1658G>C (p.Arg553Pro) rs145370369
NM_006231.4(POLE):c.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.4(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.4(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.4(POLE):c.175A>G (p.Lys59Glu)
NM_006231.4(POLE):c.1774C>A (p.Gln592Lys) rs1443486021
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.4(POLE):c.1799G>A (p.Cys600Tyr) rs1565966836
NM_006231.4(POLE):c.1847G>T (p.Arg616Leu) rs764558974
NM_006231.4(POLE):c.1885G>A (p.Ala629Thr) rs1481858602
NM_006231.4(POLE):c.1894C>T (p.Pro632Ser) rs1565966599
NM_006231.4(POLE):c.1916G>A (p.Arg639His) rs754616313
NM_006231.4(POLE):c.1940A>G (p.Asp647Gly) rs1060500884
NM_006231.4(POLE):c.1942G>A (p.Glu648Lys) rs961415389
NM_006231.4(POLE):c.1964A>T (p.Asp655Val)
NM_006231.4(POLE):c.199C>A (p.His67Asn) rs1555230392
NM_006231.4(POLE):c.2019C>T (p.Gly673=) rs748614767
NM_006231.4(POLE):c.2021A>T (p.Glu674Val) rs1270807618
NM_006231.4(POLE):c.2039G>T (p.Arg680Leu) rs763522976
NM_006231.4(POLE):c.2045A>T (p.Glu682Val)
NM_006231.4(POLE):c.205-2A>G rs2043148194
NM_006231.4(POLE):c.2058C>G (p.Ile686Met) rs140254249
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.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.2093T>C (p.Leu698Ser) rs2135975504
NM_006231.4(POLE):c.2125G>C (p.Glu709Gln) rs1367402208
NM_006231.4(POLE):c.2222A>G (p.Glu741Gly) rs1060500807
NM_006231.4(POLE):c.2245C>T (p.Arg749Trp) rs751326135
NM_006231.4(POLE):c.226A>G (p.Lys76Glu) rs1468404698
NM_006231.4(POLE):c.226A>T (p.Lys76Ter) rs1468404698
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del) rs1064796065
NM_006231.4(POLE):c.2357G>A (p.Gly786Asp) rs2135962038
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.4(POLE):c.2375A>G (p.Lys792Arg) rs2042772263
NM_006231.4(POLE):c.2378G>A (p.Arg793His) rs1422986795
NM_006231.4(POLE):c.2378G>T (p.Arg793Leu) rs1422986795
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2399T>C (p.Leu800Pro)
NM_006231.4(POLE):c.2491A>G (p.Met831Val)
NM_006231.4(POLE):c.2505C>A (p.Val835=) rs878854852
NM_006231.4(POLE):c.251A>G (p.Tyr84Cys) rs2043146494
NM_006231.4(POLE):c.2544G>C (p.Glu848Asp) rs374905660
NM_006231.4(POLE):c.2550C>G (p.Ile850Met) rs5744834
NM_006231.4(POLE):c.2602C>G (p.Leu868Val)
NM_006231.4(POLE):c.2638_2639delinsCT (p.Thr880Leu) rs1555226437
NM_006231.4(POLE):c.2684C>T (p.Ala895Val) rs1458833255
NM_006231.4(POLE):c.2707G>T (p.Glu903Ter) rs1555226066
NM_006231.4(POLE):c.2710G>C (p.Gly904Arg) rs2135949756
NM_006231.4(POLE):c.2714T>C (p.Phe905Ser)
NM_006231.4(POLE):c.2716A>G (p.Thr906Ala) rs935816567
NM_006231.4(POLE):c.2727G>A (p.Gln909=) rs1555226055
NM_006231.4(POLE):c.2734_2735delinsAT (p.Glu912Met) rs2135949435
NM_006231.4(POLE):c.2747C>T (p.Pro916Leu) rs766707934
NM_006231.4(POLE):c.2759C>T (p.Thr920Ile) rs899872545
NM_006231.4(POLE):c.2785A>G (p.Ile929Val) rs765066823
NM_006231.4(POLE):c.286-8_286-7del rs2043139110
NM_006231.4(POLE):c.2867A>G (p.Tyr956Cys) rs1593776406
NM_006231.4(POLE):c.2955C>A (p.Phe985Leu)
NM_006231.4(POLE):c.2965G>T (p.Val989Leu) rs529927099
NM_006231.4(POLE):c.3071T>C (p.Met1024Thr) rs1565956324
NM_006231.4(POLE):c.3074C>T (p.Pro1025Leu) rs2138679001
NM_006231.4(POLE):c.3151T>C (p.Ser1051Pro) rs1064796258
NM_006231.4(POLE):c.3154_3156delinsGCA (p.Thr1052Ala)
NM_006231.4(POLE):c.3155C>T (p.Thr1052Met) rs2042630076
NM_006231.4(POLE):c.3209A>G (p.Lys1070Arg) rs2042628757
NM_006231.4(POLE):c.3224G>C (p.Ser1075Thr) rs750986436
NM_006231.4(POLE):c.3290C>G (p.Ala1097Gly) rs2138663775
NM_006231.4(POLE):c.3328C>A (p.Leu1110Ile) rs1555225317
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3332G>A (p.Arg1111Gln) rs114315196
NM_006231.4(POLE):c.3379-2A>G
NM_006231.4(POLE):c.3382C>G (p.Leu1128Val) rs755839896
NM_006231.4(POLE):c.3388T>C (p.Trp1130Arg) rs1593766757
NM_006231.4(POLE):c.3416G>A (p.Ser1139Asn) rs2138659619
NM_006231.4(POLE):c.3446C>G (p.Ala1149Gly) rs778212434
NM_006231.4(POLE):c.3459+4del rs1259885948
NM_006231.4(POLE):c.3465G>T (p.Lys1155Asn) rs1449239461
NM_006231.4(POLE):c.3469C>G (p.Pro1157Ala) rs1593766098
NM_006231.4(POLE):c.3481G>C (p.Val1161Leu)
NM_006231.4(POLE):c.3491C>T (p.Pro1164Leu) rs2042563717
NM_006231.4(POLE):c.3493G>T (p.Asp1165Tyr) rs575738148
NM_006231.4(POLE):c.3497G>A (p.Trp1166Ter) rs1426673673
NM_006231.4(POLE):c.3518A>G (p.Glu1173Gly) rs762150108
NM_006231.4(POLE):c.3572G>T (p.Gly1191Val) rs1429556469
NM_006231.4(POLE):c.3590delinsGGTCTGA (p.Met1197delinsArgSerGlu) rs1555224131
NM_006231.4(POLE):c.3595G>T (p.Glu1199Ter) rs1012418859
NM_006231.4(POLE):c.3611G>A (p.Ser1204Asn) rs1555224124
NM_006231.4(POLE):c.3614C>G (p.Pro1205Arg) rs772686048
NM_006231.4(POLE):c.3620C>G (p.Pro1207Arg) rs144086049
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.3674C>T (p.Ala1225Val) rs761495946
NM_006231.4(POLE):c.3713G>T (p.Ser1238Ile)
NM_006231.4(POLE):c.3721_3722inv (p.Glu1241Ser)
NM_006231.4(POLE):c.3724T>A (p.Ser1242Thr) rs2042378606
NM_006231.4(POLE):c.3725C>G (p.Ser1242Cys) rs373213156
NM_006231.4(POLE):c.3728A>G (p.Gln1243Arg) rs2042378286
NM_006231.4(POLE):c.3737C>G (p.Thr1246Arg) rs750902578
NM_006231.4(POLE):c.3737C>T (p.Thr1246Met) rs750902578
NM_006231.4(POLE):c.3748C>T (p.Pro1250Ser) rs769323549
NM_006231.4(POLE):c.3757G>C (p.Glu1253Gln) rs1184564186
NM_006231.4(POLE):c.3775C>T (p.Pro1259Ser)
NM_006231.4(POLE):c.3796-60_3798del rs2138610473
NM_006231.4(POLE):c.3808G>A (p.Val1270Ile) rs199574832
NM_006231.4(POLE):c.3824A>G (p.His1275Arg)
NM_006231.4(POLE):c.3826AAG[2] (p.Lys1278del) rs771544067
NM_006231.4(POLE):c.3857G>T (p.Arg1286Leu) rs771823596
NM_006231.4(POLE):c.3858_3881del (p.Ala1288_Leu1295del) rs759449495
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.4(POLE):c.3881G>T (p.Arg1294Leu) rs115455318
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro) rs766058852
NM_006231.4(POLE):c.3932C>T (p.Pro1311Leu) rs1042198717
NM_006231.4(POLE):c.3934G>A (p.Ala1312Thr) rs1565945759
NM_006231.4(POLE):c.3974G>A (p.Ser1325Asn) rs2138605570
NM_006231.4(POLE):c.4000G>A (p.Val1334Met) rs2138604719
NM_006231.4(POLE):c.4021C>G (p.Gln1341Glu) rs2042354173
NM_006231.4(POLE):c.4066C>T (p.His1356Tyr) rs557732922
NM_006231.4(POLE):c.406A>G (p.Lys136Glu) rs2136028767
NM_006231.4(POLE):c.4077G>T (p.Arg1359Ser) rs1064796047
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738
NM_006231.4(POLE):c.4107C>A (p.Asn1369Lys) rs2042351343
NM_006231.4(POLE):c.4122A>T (p.Lys1374Asn) rs878854867
NM_006231.4(POLE):c.4139C>T (p.Ser1380Leu) rs762090058
NM_006231.4(POLE):c.4149+2T>C rs1064796760
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.4(POLE):c.4157G>C (p.Arg1386Pro) rs969355093
NM_006231.4(POLE):c.4179G>T (p.Met1393Ile) rs778153462
NM_006231.4(POLE):c.4183T>C (p.Tyr1395His) rs752751096
NM_006231.4(POLE):c.4189C>T (p.Leu1397Phe) rs2138561311
NM_006231.4(POLE):c.4229A>C (p.His1410Pro) rs1313711311
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.4(POLE):c.424C>A (p.Pro142Thr)
NM_006231.4(POLE):c.427A>G (p.Asn143Asp) rs889470853
NM_006231.4(POLE):c.4290+1G>A rs1565940214
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4331T>C (p.Val1444Ala) rs767189495
NM_006231.4(POLE):c.4370G>C (p.Gly1457Ala)
NM_006231.4(POLE):c.4445G>A (p.Gly1482Glu) rs1555222946
NM_006231.4(POLE):c.4447A>G (p.Ser1483Gly) rs1475068188
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4459A>G (p.Ile1487Val) rs1555222924
NM_006231.4(POLE):c.4461C>T (p.Ile1487=) rs536917758
NM_006231.4(POLE):c.4476C>A (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.4484C>T (p.Ala1495Val) rs2138547037
NM_006231.4(POLE):c.4495C>A (p.Leu1499Ile) rs1555222907
NM_006231.4(POLE):c.4500C>G (p.Phe1500Leu) rs370543622
NM_006231.4(POLE):c.4507T>C (p.Phe1503Leu) rs2138546633
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.4525A>G (p.Arg1509Gly) rs1060500816
NM_006231.4(POLE):c.4549A>G (p.Thr1517Ala)
NM_006231.4(POLE):c.4552-5T>A rs1064795991
NM_006231.4(POLE):c.4568T>C (p.Met1523Thr) rs529080029
NM_006231.4(POLE):c.4576C>A (p.Leu1526Ile) rs1204588974
NM_006231.4(POLE):c.4645C>A (p.Pro1549Thr) rs147500308
NM_006231.4(POLE):c.4646C>A (p.Pro1549His) rs577952179
NM_006231.4(POLE):c.4646C>T (p.Pro1549Leu) rs577952179
NM_006231.4(POLE):c.4647dup (p.Lys1550fs) rs754220952
NM_006231.4(POLE):c.4680C>T (p.Asp1560=) rs774425403
NM_006231.4(POLE):c.4709G>A (p.Arg1570Gln) rs1593731992
NM_006231.4(POLE):c.4728+5G>C
NM_006231.4(POLE):c.4754T>C (p.Ile1585Thr)
NM_006231.4(POLE):c.476C>T (p.Thr159Ile) rs150083426
NM_006231.4(POLE):c.4776G>T (p.Glu1592Asp) rs2138536337
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.484G>T (p.Asp162Tyr)
NM_006231.4(POLE):c.4857_4858insA (p.Gly1620fs) rs1432073374
NM_006231.4(POLE):c.4873C>G (p.Gln1625Glu) rs1064794648
NM_006231.4(POLE):c.487C>A (p.Leu163Ile)
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.4931C>G (p.Ser1644Trp) rs771896231
NM_006231.4(POLE):c.4953-5T>G rs757060708
NM_006231.4(POLE):c.4963A>G (p.Ile1655Val) rs1060500876
NM_006231.4(POLE):c.4982C>G (p.Pro1661Arg) rs2042165660
NM_006231.4(POLE):c.4987G>C (p.Asp1663His) rs753910068
NM_006231.4(POLE):c.5036G>T (p.Arg1679Leu) rs748940418
NM_006231.4(POLE):c.5060C>T (p.Ser1687Phe) rs1565936909
NM_006231.4(POLE):c.5071C>T (p.Arg1691Cys) rs777599909
NM_006231.4(POLE):c.5081T>C (p.Leu1694Pro) rs1555222481
NM_006231.4(POLE):c.5116A>T (p.Met1706Leu) rs1478959461
NM_006231.4(POLE):c.5121G>T (p.Glu1707Asp) rs750460626
NM_006231.4(POLE):c.5234T>A (p.Val1745Asp) rs2138525643
NM_006231.4(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.4(POLE):c.5237A>T (p.Asn1746Ile) rs377461656
NM_006231.4(POLE):c.5260A>G (p.Met1754Val)
NM_006231.4(POLE):c.5261T>A (p.Met1754Lys)
NM_006231.4(POLE):c.5290G>C (p.Ala1764Pro) rs1315730296
NM_006231.4(POLE):c.5290G>T (p.Ala1764Ser) rs1315730296
NM_006231.4(POLE):c.5317G>A (p.Gly1773Ser) rs1565935798
NM_006231.4(POLE):c.5329A>G (p.Ser1777Gly)
NM_006231.4(POLE):c.5343C>T (p.Ser1781=)
NM_006231.4(POLE):c.5363G>A (p.Cys1788Tyr) rs1565935614
NM_006231.4(POLE):c.5367dup (p.Asn1790Ter) rs959133191
NM_006231.4(POLE):c.5386A>G (p.Lys1796Glu) rs2042094966
NM_006231.4(POLE):c.5392A>G (p.Met1798Val) rs1555221940
NM_006231.4(POLE):c.5438A>T (p.Tyr1813Phe) rs752559134
NM_006231.4(POLE):c.5477G>A (p.Arg1826Gln) rs1555221919
NM_006231.4(POLE):c.5502C>T (p.Asp1834=) rs1555221903
NM_006231.4(POLE):c.550A>C (p.Ser184Arg) rs1060500790
NM_006231.4(POLE):c.5521C>T (p.Leu1841Phe) rs2138508674
NM_006231.4(POLE):c.554A>G (p.Asp185Gly) rs2136027111
NM_006231.4(POLE):c.5552A>G (p.Gln1851Arg) rs2042089903
NM_006231.4(POLE):c.5553-1G>A rs1064796152
NM_006231.4(POLE):c.5554C>A (p.Leu1852Ile)
NM_006231.4(POLE):c.5668A>G (p.Ile1890Val) rs745804149
NM_006231.4(POLE):c.5773A>G (p.Ile1925Val) rs2042022859
NM_006231.4(POLE):c.5792C>T (p.Ser1931Phe) rs879254232
NM_006231.4(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.4(POLE):c.5840A>C (p.Glu1947Ala)
NM_006231.4(POLE):c.5860_5861delinsTT (p.Asp1954Phe) rs1555221216
NM_006231.4(POLE):c.5901GGA[3] (p.Glu1969dup) rs754275919
NM_006231.4(POLE):c.5910dup (p.Asn1971fs) rs2138474318
NM_006231.4(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.4(POLE):c.5966C>G (p.Ala1989Gly) rs745501021
NM_006231.4(POLE):c.5997T>G (p.Ile1999Met)
NM_006231.4(POLE):c.6005-6C>G
NM_006231.4(POLE):c.6005C>T (p.Ala2002Val) rs1247397969
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.4(POLE):c.6029G>A (p.Cys2010Tyr) rs1471000462
NM_006231.4(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.4(POLE):c.605C>G (p.Thr202Ser)
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6086G>A (p.Gly2029Glu) rs879254239
NM_006231.4(POLE):c.6136+1G>T rs1593708662
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6184A>C (p.Ser2062Arg)
NM_006231.4(POLE):c.6192C>T (p.Phe2064=) rs1555220905
NM_006231.4(POLE):c.6208A>G (p.Ile2070Val) rs763607284
NM_006231.4(POLE):c.6265G>A (p.Val2089Ile) rs2041950521
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.4(POLE):c.6278C>T (p.Ser2093Phe) rs890951073
NM_006231.4(POLE):c.6287T>G (p.Leu2096Arg) rs754604458
NM_006231.4(POLE):c.6312C>G (p.Phe2104Leu) rs1555220869
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.4(POLE):c.6422A>C (p.Glu2141Ala) rs1471291660
NM_006231.4(POLE):c.6428A>G (p.Gln2143Arg) rs761600734
NM_006231.4(POLE):c.6442T>C (p.Cys2148Arg) rs2041835652
NM_006231.4(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.4(POLE):c.6454G>T (p.Val2152Leu) rs138789360
NM_006231.4(POLE):c.6457del (p.Leu2153fs) rs1064794611
NM_006231.4(POLE):c.6498C>T (p.Asp2166=) rs946547049
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6533A>G (p.Asp2178Gly) rs2138428717
NM_006231.4(POLE):c.6537_6541del (p.Ala2180fs) rs879254107
NM_006231.4(POLE):c.6593C>T (p.Ala2198Val) rs1555301083
NM_006231.4(POLE):c.664C>G (p.Arg222Gly) rs767503360
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.672C>G (p.Tyr224Ter) rs376923206
NM_006231.4(POLE):c.6749T>C (p.Val2250Ala)
NM_006231.4(POLE):c.6757G>A (p.Glu2253Lys) rs376140352
NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln) rs376140352
NM_006231.4(POLE):c.6763A>G (p.Ile2255Val) rs73155056
NM_006231.4(POLE):c.6792C>G (p.His2264Gln) rs1396625189
NM_006231.4(POLE):c.6847C>G (p.Gln2283Glu) rs1267521228
NM_006231.4(POLE):c.6853G>T (p.Gly2285Cys) rs1245794040
NM_006231.4(POLE):c.725A>C (p.His242Pro)
NM_006231.4(POLE):c.757T>C (p.Phe253Leu) rs2043078684
NM_006231.4(POLE):c.77C>T (p.Thr26Ile) rs2043162143
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.801+1G>A rs1593080932
NM_006231.4(POLE):c.802G>A (p.Asp268Asn) rs2043060847
NM_006231.4(POLE):c.80C>T (p.Ser27Phe) rs1593088347
NM_006231.4(POLE):c.823G>C (p.Asp275His) rs879254218
NM_006231.4(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006231.4(POLE):c.847C>T (p.Leu283Phe) rs878854898
NM_006231.4(POLE):c.850_851del (p.Lys284fs) rs1555229421
NM_006231.4(POLE):c.909+3G>C rs769529344
NM_006231.4(POLE):c.950T>C (p.Ile317Thr) rs1060500783
NM_006231.4(POLE):c.970C>G (p.Pro324Ala)
NM_006231.4(POLE):c.991C>T (p.Pro331Ser) rs994360398

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