ClinVar Miner

List of variants in gene POLE reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2770
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HGVS dbSNP
NC_000012.11:g.(?_133201273)_(133263911_?)dup
NC_000012.11:g.(?_133201277)_(133263907_?)dup
NC_000012.11:g.(?_133210817)_(133211013_?)dup
NC_000012.11:g.(?_133225509)_(133256814_?)dup
NC_000012.11:g.(?_133233722)_(133263945_?)dup
NC_000012.11:g.(?_133237549)_(133263907_?)dup
NC_000012.11:g.(?_133240580)_(133263911_?)dup
NC_000012.11:g.(?_133263830)_(133263911_?)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)_(132632805_?)del
NC_000012.12:g.(?_132632305)_(132687315_?)dup
NC_000012.12:g.(?_132632309)_(132636030_?)del
NC_000012.12:g.(?_132634176)_(132687315_?)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.(?_132648919)_(132687325_?)dup
NC_000012.12:g.(?_132657126)_(132687315_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)dup
NC_000012.12:g.(?_132660959)_(132661174_?)del
NC_000012.12:g.(?_132660959)_(132687325_?)dup
NC_000012.12:g.(?_132663994)_(132687325_?)del
NC_000012.12:g.(?_132664360)_(132687315_?)dup
NC_000012.12:g.(?_132672205)_(132676663_?)del
NC_000012.12:g.(?_132672205)_(132681289_?)del
NC_000012.12:g.(?_132672205)_(132687315_?)dup
NC_000012.12:g.(?_132676084)_(132677729_?)del
NC_000012.12:g.(?_132679487)_(132681289_?)del
NC_000012.12:g.(?_132687244)_(132687315_?)dup
NC_000012.12:g.(?_132687244)_(132687325_?)del
NC_000012.12:g.132645590_132649889del
NM_006231.3(POLE):c.*4G>T rs1555300702
NM_006231.3(POLE):c.-45G>A rs1064795271
NM_006231.3(POLE):c.-47G>T rs1014146082
NM_006231.3(POLE):c.-4C>T rs776115380
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.-6G>C rs534524789
NM_006231.3(POLE):c.-7C>T rs1064796567
NM_006231.3(POLE):c.1000G>A (p.Val334Ile) rs1555229285
NM_006231.3(POLE):c.1012C>A (p.Pro338Thr) rs1565976008
NM_006231.3(POLE):c.1015G>A (p.Asp339Asn) rs149029910
NM_006231.3(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.3(POLE):c.1019A>T (p.Glu340Val) rs895236041
NM_006231.3(POLE):c.101G>T (p.Arg34Leu) rs747005851
NM_006231.3(POLE):c.1020+1G>T rs1064794748
NM_006231.3(POLE):c.1020+5_1020+6delinsAA rs1064795707
NM_006231.3(POLE):c.1021-1G>C rs1593077673
NM_006231.3(POLE):c.1021-20C>G rs1064796140
NM_006231.3(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.3(POLE):c.1021G>C (p.Ala341Pro) rs137860861
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1036A>G (p.Arg346Gly) rs1565975682
NM_006231.3(POLE):c.1037G>A (p.Arg346Lys) rs1565975676
NM_006231.3(POLE):c.1038G>T (p.Arg346Ser) rs1193021447
NM_006231.3(POLE):c.1040G>A (p.Trp347Ter) rs1555229236
NM_006231.3(POLE):c.1041G>T (p.Trp347Cys) rs1048183984
NM_006231.3(POLE):c.1046A>G (p.Glu349Gly) rs1555229230
NM_006231.3(POLE):c.1051G>T (p.Val351Phe) rs759414746
NM_006231.3(POLE):c.1055A>C (p.Gln352Pro) rs766094330
NM_006231.3(POLE):c.1059G>C (p.Glu353Asp) rs1593077554
NM_006231.3(POLE):c.1064A>G (p.Lys355Arg) rs141396559
NM_006231.3(POLE):c.1067C>T (p.Pro356Leu) rs1593077523
NM_006231.3(POLE):c.1069A>G (p.Thr357Ala) rs1593077507
NM_006231.3(POLE):c.106G>C (p.Glu36Gln) rs370268888
NM_006231.3(POLE):c.1073T>C (p.Ile358Thr) rs1593077499
NM_006231.3(POLE):c.1081A>C (p.Thr361Pro) rs201315364
NM_006231.3(POLE):c.1082_1086dup (p.Asn363fs) rs878854838
NM_006231.3(POLE):c.1088A>G (p.Asn363Ser) rs879254173
NM_006231.3(POLE):c.109C>T (p.Arg37Trp) rs753101641
NM_006231.3(POLE):c.10A>G (p.Arg4Gly) rs1010746038
NM_006231.3(POLE):c.1106+20A>G rs200322118
NM_006231.3(POLE):c.1106+2T>G rs1593077420
NM_006231.3(POLE):c.1107-2A>G rs1565975328
NM_006231.3(POLE):c.1107-6A>G rs1565975340
NM_006231.3(POLE):c.1107G>A (p.Trp369Ter) rs1171878347
NM_006231.3(POLE):c.1108C>A (p.Pro370Thr) rs576578672
NM_006231.3(POLE):c.110G>A (p.Arg37Gln) rs377002290
NM_006231.3(POLE):c.1111T>C (p.Phe371Leu) rs1565975308
NM_006231.3(POLE):c.1118A>T (p.Glu373Val) rs1555229138
NM_006231.3(POLE):c.1120G>A (p.Ala374Thr) rs1188949540
NM_006231.3(POLE):c.1123C>G (p.Arg375Gly) rs556789278
NM_006231.3(POLE):c.1123C>T (p.Arg375Trp) rs556789278
NM_006231.3(POLE):c.1124G>A (p.Arg375Gln) rs778572159
NM_006231.3(POLE):c.1127C>A (p.Ala376Glu) rs1202544604
NM_006231.3(POLE):c.1129G>A (p.Ala377Thr) rs754508108
NM_006231.3(POLE):c.112A>T (p.Ser38Cys) rs879254247
NM_006231.3(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.3(POLE):c.1138G>C (p.Gly380Arg) rs199746481
NM_006231.3(POLE):c.1138G>T (p.Gly380Cys) rs199746481
NM_006231.3(POLE):c.113G>A (p.Ser38Asn) rs141424313
NM_006231.3(POLE):c.1145G>A (p.Ser382Asn) rs761600715
NM_006231.3(POLE):c.1147A>G (p.Met383Val) rs879254238
NM_006231.3(POLE):c.1148T>C (p.Met383Thr) rs1060500787
NM_006231.3(POLE):c.1151A>G (p.Gln384Arg) rs1565975180
NM_006231.3(POLE):c.1156G>A (p.Glu386Lys) rs893340262
NM_006231.3(POLE):c.1160T>C (p.Ile387Thr) rs1060500833
NM_006231.3(POLE):c.1166T>A (p.Phe389Tyr) rs1565975150
NM_006231.3(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.3(POLE):c.1175A>G (p.Asp392Gly) rs878854840
NM_006231.3(POLE):c.1176C>G (p.Asp392Glu) rs752873913
NM_006231.3(POLE):c.1180C>T (p.Gln394Ter) rs1565975090
NM_006231.3(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.3(POLE):c.1183G>A (p.Gly395Arg) rs1475049831
NM_006231.3(POLE):c.1184G>A (p.Gly395Glu) rs546499094
NM_006231.3(POLE):c.1184G>T (p.Gly395Val) rs546499094
NM_006231.3(POLE):c.1188G>A (p.Glu396=) rs371717068
NM_006231.3(POLE):c.1191C>G (p.Tyr397Ter) rs1208085896
NM_006231.3(POLE):c.1193A>G (p.Lys398Arg) rs1402549512
NM_006231.3(POLE):c.1196C>T (p.Ala399Val) rs1060500853
NM_006231.3(POLE):c.119G>A (p.Trp40Ter) rs1565981653
NM_006231.3(POLE):c.1203G>C (p.Gln401His) rs1060500810
NM_006231.3(POLE):c.1211A>G (p.His404Arg) rs1565975006
NM_006231.3(POLE):c.1213A>C (p.Met405Leu) rs1064796182
NM_006231.3(POLE):c.1213A>G (p.Met405Val) rs1064796182
NM_006231.3(POLE):c.1214T>G (p.Met405Arg) rs1593076689
NM_006231.3(POLE):c.1215G>C (p.Met405Ile) rs1060500847
NM_006231.3(POLE):c.1222C>G (p.Leu408Val) rs1593076655
NM_006231.3(POLE):c.1226+1G>A rs778501724
NM_006231.3(POLE):c.1226+6G>A rs1286283864
NM_006231.3(POLE):c.1227-2A>T rs1057517609
NM_006231.3(POLE):c.1228T>C (p.Trp410Arg) rs1593073483
NM_006231.3(POLE):c.122C>T (p.Thr41Met) rs148269473
NM_006231.3(POLE):c.1231G>A (p.Val411Met) rs1057519945
NM_006231.3(POLE):c.1232T>C (p.Val411Ala) rs1031999052
NM_006231.3(POLE):c.1242C>T (p.Asp414=) rs775213170
NM_006231.3(POLE):c.1252C>A (p.Pro418Thr) rs1555228651
NM_006231.3(POLE):c.1257G>A (p.Val419=) rs1565973352
NM_006231.3(POLE):c.125A>C (p.Asp42Ala) rs749886101
NM_006231.3(POLE):c.125A>T (p.Asp42Val) rs749886101
NM_006231.3(POLE):c.1264C>G (p.His422Asp) rs745356467
NM_006231.3(POLE):c.1264C>T (p.His422Tyr) rs745356467
NM_006231.3(POLE):c.1274A>G (p.Lys425Arg) rs757186755
NM_006231.3(POLE):c.1277C>T (p.Ala426Val) rs374920539
NM_006231.3(POLE):c.1280C>T (p.Ala427Val) rs878854841
NM_006231.3(POLE):c.1282G>A (p.Ala428Thr) rs150032060
NM_006231.3(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.3(POLE):c.1291_1311dup (p.Lys431_Val437dup) rs1593073188
NM_006231.3(POLE):c.1294C>G (p.Leu432Val) rs750475909
NM_006231.3(POLE):c.1297G>A (p.Gly433Ser) rs1190891892
NM_006231.3(POLE):c.1297G>T (p.Gly433Cys) rs1190891892
NM_006231.3(POLE):c.1298G>A (p.Gly433Asp) rs1465684132
NM_006231.3(POLE):c.1298G>T (p.Gly433Val) rs1465684132
NM_006231.3(POLE):c.1303G>A (p.Asp435Asn) rs879254276
NM_006231.3(POLE):c.1306C>A (p.Pro436Thr) rs1565973210
NM_006231.3(POLE):c.1307C>G (p.Pro436Arg) rs864622766
NM_006231.3(POLE):c.1309G>A (p.Val437Met) rs115047349
NM_006231.3(POLE):c.1309G>T (p.Val437Leu) rs115047349
NM_006231.3(POLE):c.1320C>G (p.Asp440Glu) rs763350226
NM_006231.3(POLE):c.1322C>G (p.Pro441Arg) rs775340163
NM_006231.3(POLE):c.1322C>T (p.Pro441Leu) rs775340163
NM_006231.3(POLE):c.1328A>G (p.Asp443Gly) rs1555228601
NM_006231.3(POLE):c.1330A>G (p.Met444Val) rs546871889
NM_006231.3(POLE):c.1336C>T (p.Arg446Trp) rs200403177
NM_006231.3(POLE):c.1339A>C (p.Met447Leu) rs376095661
NM_006231.3(POLE):c.1339A>G (p.Met447Val) rs376095661
NM_006231.3(POLE):c.1341G>A (p.Met447Ile) rs1565973097
NM_006231.3(POLE):c.1345A>G (p.Thr449Ala) rs747935432
NM_006231.3(POLE):c.1346C>T (p.Thr449Met) rs780299012
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.1351C>T (p.Gln451Ter) rs1593073030
NM_006231.3(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.3(POLE):c.1357C>G (p.Gln453Glu) rs781360770
NM_006231.3(POLE):c.1359+2C>T rs1593073012
NM_006231.3(POLE):c.1359+4C>A rs752118019
NM_006231.3(POLE):c.1359+4C>T rs752118019
NM_006231.3(POLE):c.1359+5G>A rs761564635
NM_006231.3(POLE):c.1359+6T>A rs1555228569
NM_006231.3(POLE):c.1360-6C>A rs139836643
NM_006231.3(POLE):c.1363_1364delCT rs1347535436
NM_006231.3(POLE):c.1366G>C (p.Ala456Pro) rs1565972665
NM_006231.3(POLE):c.1370C>T (p.Thr457Met) rs878854842
NM_006231.3(POLE):c.1372T>A (p.Tyr458Asn) rs879254259
NM_006231.3(POLE):c.1376C>G (p.Ser459Cys) rs765702675
NM_006231.3(POLE):c.1378G>A (p.Val460Met) rs753586583
NM_006231.3(POLE):c.1384G>A (p.Asp462Asn) rs765946486
NM_006231.3(POLE):c.138del (p.Leu46fs) rs1555230420
NM_006231.3(POLE):c.1390G>A (p.Val464Ile) rs1555228496
NM_006231.3(POLE):c.1393G>A (p.Ala465Thr) rs771526654
NM_006231.3(POLE):c.1394C>T (p.Ala465Val) rs1555228490
NM_006231.3(POLE):c.1396A>G (p.Thr466Ala) rs761765763
NM_006231.3(POLE):c.1405C>G (p.Leu469Val) rs368303888
NM_006231.3(POLE):c.140G>A (p.Arg47Gln) rs1161199196
NM_006231.3(POLE):c.1411A>G (p.Met471Val) rs749021187
NM_006231.3(POLE):c.1414A>G (p.Lys472Glu) rs1565972540
NM_006231.3(POLE):c.1419C>G (p.Tyr473Ter) rs369961557
NM_006231.3(POLE):c.1420G>A (p.Val474Ile) rs980578884
NM_006231.3(POLE):c.1423C>A (p.His475Asn) rs952195021
NM_006231.3(POLE):c.1426C>T (p.Pro476Ser) rs1555228469
NM_006231.3(POLE):c.1439C>T (p.Ala480Val) rs951851739
NM_006231.3(POLE):c.1447A>G (p.Thr483Ala) rs777736640
NM_006231.3(POLE):c.1447A>T (p.Thr483Ser) rs777736640
NM_006231.3(POLE):c.1453A>G (p.Ile485Val) rs1593072187
NM_006231.3(POLE):c.1455T>G (p.Ile485Met) rs878854843
NM_006231.3(POLE):c.1456C>T (p.Pro486Ser) rs1565972431
NM_006231.3(POLE):c.145G>A (p.Gly49Ser) rs1555230418
NM_006231.3(POLE):c.1462G>A (p.Glu488Lys) rs375615461
NM_006231.3(POLE):c.1467_1468del (p.Asp490fs) rs1060500792
NM_006231.3(POLE):c.1468G>A (p.Asp490Asn) rs755463796
NM_006231.3(POLE):c.1471G>A (p.Glu491Lys) rs776770625
NM_006231.3(POLE):c.1474-1G>C rs1565972026
NM_006231.3(POLE):c.1478del (p.Leu493fs) rs760070332
NM_006231.3(POLE):c.1480C>T (p.Arg494Trp) rs756829894
NM_006231.3(POLE):c.1487G>T (p.Gly496Val) rs1485752650
NM_006231.3(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.3(POLE):c.1489T>C (p.Ser497Pro) rs764069224
NM_006231.3(POLE):c.1492G>C (p.Gly498Arg) rs1593071383
NM_006231.3(POLE):c.1499T>C (p.Leu500Pro) rs775457973
NM_006231.3(POLE):c.1503_1504del rs762636894
NM_006231.3(POLE):c.1504G>C (p.Glu502Gln) rs764955570
NM_006231.3(POLE):c.1516A>G (p.Met506Val) rs773634913
NM_006231.3(POLE):c.1520T>C (p.Val507Ala) rs904849438
NM_006231.3(POLE):c.1523A>G (p.Gln508Arg) rs1003970392
NM_006231.3(POLE):c.1524G>T (p.Gln508His) rs762030811
NM_006231.3(POLE):c.1537A>G (p.Asn513Asp) rs200136603
NM_006231.3(POLE):c.1543A>G (p.Ile515Val) rs1060500815
NM_006231.3(POLE):c.1553A>G (p.Asn518Ser) rs553123678
NM_006231.3(POLE):c.1554C>A (p.Asn518Lys) rs1251796496
NM_006231.3(POLE):c.1559A>C (p.Gln520Pro) rs780865223
NM_006231.3(POLE):c.1559A>G (p.Gln520Arg) rs780865223
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1565A>G (p.Gln522Arg) rs1555228312
NM_006231.3(POLE):c.1567G>A (p.Glu523Lys) rs1275423655
NM_006231.3(POLE):c.1567dup (p.Glu523fs) rs1555228310
NM_006231.3(POLE):c.1570T>G (p.Phe524Val) rs1593071029
NM_006231.3(POLE):c.1571T>A (p.Phe524Tyr) rs1234183382
NM_006231.3(POLE):c.1573A>C (p.Asn525His) rs751164982
NM_006231.3(POLE):c.1574A>G (p.Asn525Ser) rs74878897
NM_006231.3(POLE):c.1576A>G (p.Lys526Glu) rs1444399170
NM_006231.3(POLE):c.1583C>T (p.Thr528Met) rs116263919
NM_006231.3(POLE):c.1586A>G (p.Asp529Gly) rs1565971720
NM_006231.3(POLE):c.1588G>A (p.Asp530Asn) rs753660907
NM_006231.3(POLE):c.1588_1594delGACGGAC rs1555228293
NM_006231.3(POLE):c.1591G>A (p.Gly531Arg) rs748489355
NM_006231.3(POLE):c.1597G>A (p.Val533Met) rs374140892
NM_006231.3(POLE):c.15C>A (p.Ser5Arg) rs1361332747
NM_006231.3(POLE):c.1608T>C (p.Ser536=) rs763078534
NM_006231.3(POLE):c.1613C>T (p.Thr538Ile) rs1565971628
NM_006231.3(POLE):c.1614C>G (p.Thr538=) rs1060504052
NM_006231.3(POLE):c.1618G>A (p.Val540Ile) rs770307281
NM_006231.3(POLE):c.1621G>A (p.Gly541Arg) rs1555228286
NM_006231.3(POLE):c.1623_1633del (p.His543fs) rs1593070775
NM_006231.3(POLE):c.1625dup (p.His543fs) rs1565971583
NM_006231.3(POLE):c.1627C>T (p.His543Tyr) rs1555228285
NM_006231.3(POLE):c.1628A>C (p.His543Pro) rs1555228282
NM_006231.3(POLE):c.1639C>T (p.Leu547Phe) rs1327695331
NM_006231.3(POLE):c.1642G>A (p.Glu548Lys) rs908638591
NM_006231.3(POLE):c.1642G>T (p.Glu548Ter) rs908638591
NM_006231.3(POLE):c.1649G>A (p.Gly550Glu) rs1555228272
NM_006231.3(POLE):c.1657C>T (p.Arg553Cys) rs878854844
NM_006231.3(POLE):c.1661G>A (p.Ser554Asn) rs1028317886
NM_006231.3(POLE):c.1663G>A (p.Asp555Asn) rs778763440
NM_006231.3(POLE):c.1673del (p.Cys558fs) rs1060500859
NM_006231.3(POLE):c.1676G>A (p.Arg559Gln) rs766276875
NM_006231.3(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.3(POLE):c.1684A>G (p.Met562Val) rs990959129
NM_006231.3(POLE):c.1686+1G>C rs1555228250
NM_006231.3(POLE):c.1686+3G>A rs1060500868
NM_006231.3(POLE):c.1687-3T>G rs148115738
NM_006231.3(POLE):c.1687-4C>T rs375705244
NM_006231.3(POLE):c.1691C>T (p.Pro564Leu) rs1307922680
NM_006231.3(POLE):c.1693G>C (p.Ala565Pro) rs747247890
NM_006231.3(POLE):c.1693G>T (p.Ala565Ser) rs747247890
NM_006231.3(POLE):c.1696G>A (p.Ala566Thr) rs773813430
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1702G>A (p.Asp568Asn) rs115340410
NM_006231.3(POLE):c.1704C>G (p.Asp568Glu) rs1202536047
NM_006231.3(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.3(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.3(POLE):c.1715A>T (p.Gln572Leu) rs1555228139
NM_006231.3(POLE):c.1717C>G (p.Arg573Gly) rs373000452
NM_006231.3(POLE):c.1718G>A (p.Arg573Gln) rs1054837169
NM_006231.3(POLE):c.1726A>G (p.Lys576Glu) rs745745342
NM_006231.3(POLE):c.1729A>G (p.Thr577Ala) rs1565970674
NM_006231.3(POLE):c.172G>A (p.Glu58Lys) rs1316755014
NM_006231.3(POLE):c.1735C>T (p.Arg579Cys) rs116260568
NM_006231.3(POLE):c.1736G>A (p.Arg579His) rs149296223
NM_006231.3(POLE):c.1741G>A (p.Ala581Thr) rs755090755
NM_006231.3(POLE):c.1756G>A (p.Glu586Lys) rs878854845
NM_006231.3(POLE):c.1759A>C (p.Lys587Gln) rs1060500781
NM_006231.3(POLE):c.1759A>G (p.Lys587Glu) rs1060500781
NM_006231.3(POLE):c.1760A>G (p.Lys587Arg) rs750826256
NM_006231.3(POLE):c.1769T>A (p.Val590Glu) rs1593069291
NM_006231.3(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.3(POLE):c.177G>C (p.Lys59Asn) rs753360358
NM_006231.3(POLE):c.1780A>G (p.Thr594Ala) rs762067222
NM_006231.3(POLE):c.1783A>G (p.Asn595Asp) rs1593069244
NM_006231.3(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.3(POLE):c.1789G>A (p.Glu597Lys) rs768396766
NM_006231.3(POLE):c.1791A>C (p.Glu597Asp) rs1593069218
NM_006231.3(POLE):c.1794+4A>G rs1555228110
NM_006231.3(POLE):c.1794+5C>A rs200095915
NM_006231.3(POLE):c.1794+5C>T rs200095915
NM_006231.3(POLE):c.1794+6C>T rs769389800
NM_006231.3(POLE):c.1794G>A (p.Glu598=) rs1379550837
NM_006231.3(POLE):c.1795-6C>G rs1555227428
NM_006231.3(POLE):c.1795G>A (p.Val599Met) rs1555227427
NM_006231.3(POLE):c.1798T>A (p.Cys600Ser) rs1555227426
NM_006231.3(POLE):c.1799G>A (p.Cys600Tyr) rs1565966836
NM_006231.3(POLE):c.17G>A (p.Gly6Asp) rs772972882
NM_006231.3(POLE):c.1806G>C (p.Glu602Asp) rs1057521932
NM_006231.3(POLE):c.1836C>G (p.Asp612Glu) rs116456858
NM_006231.3(POLE):c.1836dup (p.Val613fs) rs1555227419
NM_006231.3(POLE):c.1837G>A (p.Val613Ile) rs200471266
NM_006231.3(POLE):c.1843A>G (p.Ser615Gly) rs932588382
NM_006231.3(POLE):c.1846C>T (p.Arg616Cys) rs752076074
NM_006231.3(POLE):c.1847G>A (p.Arg616His) rs764558974
NM_006231.3(POLE):c.1847G>T (p.Arg616Leu) rs764558974
NM_006231.3(POLE):c.1852G>A (p.Glu618Lys) rs1377657524
NM_006231.3(POLE):c.1855T>C (p.Cys619Arg) rs758779896
NM_006231.3(POLE):c.1856G>A (p.Cys619Tyr) rs752456199
NM_006231.3(POLE):c.1858C>G (p.Pro620Ala) rs979085449
NM_006231.3(POLE):c.1859C>T (p.Pro620Leu) rs1565966691
NM_006231.3(POLE):c.185G>A (p.Trp62Ter) rs1565981538
NM_006231.3(POLE):c.1861C>T (p.Leu621Phe) rs945099471
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) rs150564856
NM_006231.3(POLE):c.1879G>A (p.Val627Met) rs747929590
NM_006231.3(POLE):c.1883G>T (p.Gly628Val) rs769889052
NM_006231.3(POLE):c.1885G>A (p.Ala629Thr) rs1481858602
NM_006231.3(POLE):c.1888A>G (p.Met630Val) rs1555227390
NM_006231.3(POLE):c.1894C>T (p.Pro632Ser) rs1565966599
NM_006231.3(POLE):c.1895C>G (p.Pro632Arg) rs1218293194
NM_006231.3(POLE):c.1897A>C (p.Asn633His) rs141657198
NM_006231.3(POLE):c.1897A>G (p.Asn633Asp) rs141657198
NM_006231.3(POLE):c.1900A>G (p.Ile634Val) rs757296864
NM_006231.3(POLE):c.1916G>A (p.Arg639His) rs754616313
NM_006231.3(POLE):c.1921C>T (p.Gln641Ter) rs1060500777
NM_006231.3(POLE):c.1923+6A>G rs1593793105
NM_006231.3(POLE):c.1924-23_1927del rs1064795679
NM_006231.3(POLE):c.1924-5C>T rs878854846
NM_006231.3(POLE):c.1924-6del rs758112633
NM_006231.3(POLE):c.1924C>A (p.Pro642Thr) rs1178412345
NM_006231.3(POLE):c.1930G>A (p.Ala644Thr) rs1060500885
NM_006231.3(POLE):c.1935G>A (p.Met645Ile) rs561707898
NM_006231.3(POLE):c.1940A>G (p.Asp647Gly) rs1060500884
NM_006231.3(POLE):c.1940A>T (p.Asp647Val) rs1060500884
NM_006231.3(POLE):c.1942G>A (p.Glu648Lys) rs961415389
NM_006231.3(POLE):c.1949C>T (p.Thr650Ile) rs115559742
NM_006231.3(POLE):c.1952G>A (p.Cys651Tyr) rs1060500877
NM_006231.3(POLE):c.1958C>T (p.Ala653Val) rs1555227357
NM_006231.3(POLE):c.1964A>G (p.Asp655Gly) rs1593792751
NM_006231.3(POLE):c.196A>G (p.Met66Val) rs534552358
NM_006231.3(POLE):c.1970A>G (p.Asn657Ser) rs763809781
NM_006231.3(POLE):c.198G>A (p.Met66Ile) rs764962999
NM_006231.3(POLE):c.1993C>T (p.Arg665Trp) rs367902268
NM_006231.3(POLE):c.1994G>A (p.Arg665Gln) rs772211212
NM_006231.3(POLE):c.1997A>C (p.Lys666Thr) rs1060500796
NM_006231.3(POLE):c.1999A>C (p.Met667Leu) rs1418383181
NM_006231.3(POLE):c.199C>A (p.His67Asn) rs1555230392
NM_006231.3(POLE):c.19G>A (p.Gly7Arg) rs771930571
NM_006231.3(POLE):c.19G>C (p.Gly7Arg) rs771930571
NM_006231.3(POLE):c.1A>C (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.3(POLE):c.2000T>C (p.Met667Thr) rs1593792644
NM_006231.3(POLE):c.2002G>A (p.Ala668Thr) rs1397310290
NM_006231.3(POLE):c.2014A>G (p.Arg672Gly) rs1593792619
NM_006231.3(POLE):c.2016G>A (p.Arg672=) rs991583405
NM_006231.3(POLE):c.2019C>T (p.Gly673=) rs748614767
NM_006231.3(POLE):c.2020G>A (p.Glu674Lys) rs779458859
NM_006231.3(POLE):c.2026+1G>C rs768964210
NM_006231.3(POLE):c.2026+3G>T rs749631362
NM_006231.3(POLE):c.2026A>G (p.Met676Val) rs1447713785
NM_006231.3(POLE):c.202C>A (p.Pro68Thr) rs1408600144
NM_006231.3(POLE):c.202C>G (p.Pro68Ala) rs1408600144
NM_006231.3(POLE):c.2038C>T (p.Arg680Cys) rs764044031
NM_006231.3(POLE):c.2039G>A (p.Arg680His) rs763522976
NM_006231.3(POLE):c.2039G>T (p.Arg680Leu) rs763522976
NM_006231.3(POLE):c.204+3A>G rs962416286
NM_006231.3(POLE):c.204+6C>T rs1555230386
NM_006231.3(POLE):c.2044G>A (p.Glu682Lys) rs878854848
NM_006231.3(POLE):c.2048A>G (p.Tyr683Cys) rs1593792114
NM_006231.3(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920
NM_006231.3(POLE):c.2051A>G (p.His684Arg) rs369127106
NM_006231.3(POLE):c.2051A>T (p.His684Leu) rs369127106
NM_006231.3(POLE):c.2053C>T (p.Arg685Trp) rs116326665
NM_006231.3(POLE):c.2054G>A (p.Arg685Gln) rs770597683
NM_006231.3(POLE):c.2059C>A (p.Gln687Lys) rs1048718993
NM_006231.3(POLE):c.2064C>G (p.His688Gln) rs1555227275
NM_006231.3(POLE):c.2068C>G (p.Leu690Val) rs1565965882
NM_006231.3(POLE):c.206_211delCCGAGA rs1555230325
NM_006231.3(POLE):c.2075C>T (p.Ser692Leu) rs1060500776
NM_006231.3(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.3(POLE):c.2083T>G (p.Phe695Val) rs5744799
NM_006231.3(POLE):c.2085C>A (p.Phe695Leu) rs1060500837
NM_006231.3(POLE):c.2085C>T (p.Phe695=) rs1060500837
NM_006231.3(POLE):c.2087C>T (p.Pro696Leu) rs766037063
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.3(POLE):c.208G>A (p.Glu70Lys) rs1593087295
NM_006231.3(POLE):c.2090C>A (p.Pro697His) rs36120395
NM_006231.3(POLE):c.2091del (p.Leu698fs) rs752846614
NM_006231.3(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.3(POLE):c.2098C>T (p.Pro700Ser) rs145793634
NM_006231.3(POLE):c.20_29dup (p.Asp12fs) rs1555231426
NM_006231.3(POLE):c.2110G>C (p.Ala704Pro) rs1157993567
NM_006231.3(POLE):c.2113C>T (p.Arg705Trp) rs200621883
NM_006231.3(POLE):c.2114G>A (p.Arg705Gln) rs773738016
NM_006231.3(POLE):c.2122C>T (p.His708Tyr) rs1593791799
NM_006231.3(POLE):c.2125G>T (p.Glu709Ter) rs1367402208
NM_006231.3(POLE):c.2129T>C (p.Leu710Pro) rs1439500617
NM_006231.3(POLE):c.2131T>C (p.Ser711Pro) rs374800058
NM_006231.3(POLE):c.2134C>G (p.Arg712Gly) rs749194160
NM_006231.3(POLE):c.2134C>T (p.Arg712Cys) rs749194160
NM_006231.3(POLE):c.2135G>A (p.Arg712His) rs115225325
NM_006231.3(POLE):c.2135G>T (p.Arg712Leu) rs115225325
NM_006231.3(POLE):c.2137G>A (p.Glu713Lys) rs751870998
NM_006231.3(POLE):c.2140del (p.Glu714fs) rs1555227239
NM_006231.3(POLE):c.2146G>A (p.Ala716Thr) rs1379490235
NM_006231.3(POLE):c.2147C>T (p.Ala716Val) rs567031389
NM_006231.3(POLE):c.214T>G (p.Leu72Val) rs1593087281
NM_006231.3(POLE):c.2152T>C (p.Tyr718His) rs1267528399
NM_006231.3(POLE):c.2155G>A (p.Glu719Lys) rs765254190
NM_006231.3(POLE):c.2158A>T (p.Lys720Ter) rs1565965603
NM_006231.3(POLE):c.2164del (p.Arg722fs) rs1555227234
NM_006231.3(POLE):c.2170G>A (p.Ala724Thr) rs866871212
NM_006231.3(POLE):c.2173+5G>A rs878854849
NM_006231.3(POLE):c.2173G>T (p.Asp725Tyr) rs760942391
NM_006231.3(POLE):c.2174-11G>A rs111570840
NM_006231.3(POLE):c.2174-12C>G rs192222479
NM_006231.3(POLE):c.2179T>A (p.Cys727Ser) rs1060500832
NM_006231.3(POLE):c.2182C>T (p.Arg728Trp) rs1020252487
NM_006231.3(POLE):c.2183G>A (p.Arg728Gln) rs762552065
NM_006231.3(POLE):c.2187_2199delinsGT (p.Ala730fs) rs1555227130
NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs) rs1064792921
NM_006231.3(POLE):c.218A>G (p.Asp73Gly) rs1060500786
NM_006231.3(POLE):c.2198A>G (p.Lys733Arg) rs1593790266
NM_006231.3(POLE):c.2204A>T (p.His735Leu) rs748425772
NM_006231.3(POLE):c.2207T>G (p.Ile736Ser) rs1060500850
NM_006231.3(POLE):c.2210C>A (p.Thr737Asn) rs755089034
NM_006231.3(POLE):c.2222A>G (p.Glu741Gly) rs1060500807
NM_006231.3(POLE):c.2223G>C (p.Glu741Asp) rs750872591
NM_006231.3(POLE):c.2224C>T (p.Arg742Cys) rs768004570
NM_006231.3(POLE):c.2225G>A (p.Arg742His) rs116360781
NM_006231.3(POLE):c.2227C>T (p.Leu743Phe) rs1593790117
NM_006231.3(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.3(POLE):c.2245C>T (p.Arg749Trp) rs751326135
NM_006231.3(POLE):c.2245del (p.Arg749fs) rs1565964707
NM_006231.3(POLE):c.2246G>A (p.Arg749Gln) rs1010159851
NM_006231.3(POLE):c.2251A>G (p.Asn751Asp) rs1565964683
NM_006231.3(POLE):c.2255_2257del (p.Ser752del) rs878854850
NM_006231.3(POLE):c.2258_2260del (p.Phe753del) rs1060500779
NM_006231.3(POLE):c.2263G>A (p.Val755Met) rs1222472060
NM_006231.3(POLE):c.2269A>G (p.Thr757Ala) rs1060500880
NM_006231.3(POLE):c.226A>T (p.Lys76Ter) rs1468404698
NM_006231.3(POLE):c.2272G>A (p.Val758Met) rs1210448190
NM_006231.3(POLE):c.2275C>T (p.Arg759Cys) rs759398253
NM_006231.3(POLE):c.2276G>A (p.Arg759His) rs746774432
NM_006231.3(POLE):c.2276G>T (p.Arg759Leu) rs746774432
NM_006231.3(POLE):c.2284C>T (p.Arg762Trp) rs1064794759
NM_006231.3(POLE):c.2285G>A (p.Arg762Gln) rs1023692053
NM_006231.3(POLE):c.2292G>A (p.Arg764=) rs1555227097
NM_006231.3(POLE):c.2294G>A (p.Arg765His) rs1555227096
NM_006231.3(POLE):c.2299G>A (p.Glu767Lys) rs1565964543
NM_006231.3(POLE):c.229C>T (p.Arg77Cys) rs1060500889
NM_006231.3(POLE):c.22C>G (p.Arg8Gly) rs1196946399
NM_006231.3(POLE):c.22C>T (p.Arg8Trp) rs1196946399
NM_006231.3(POLE):c.2308G>C (p.Gly770Arg) rs1565964535
NM_006231.3(POLE):c.2309G>T (p.Gly770Val) rs1555227087
NM_006231.3(POLE):c.2317A>G (p.Lys773Glu) rs1324963603
NM_006231.3(POLE):c.2319+5G>T rs1593789825
NM_006231.3(POLE):c.2319G>A (p.Lys773=) rs1565964510
NM_006231.3(POLE):c.2321T>C (p.Val774Ala) rs771591846
NM_006231.3(POLE):c.2327A>G (p.Lys776Arg) rs375791061
NM_006231.3(POLE):c.2332A>C (p.Lys778Gln) rs1263904781
NM_006231.3(POLE):c.2339C>T (p.Ser780Leu) rs778288256
NM_006231.3(POLE):c.233T>C (p.Leu78Ser) rs1593087229
NM_006231.3(POLE):c.2342C>T (p.Ala781Val) rs1060500855
NM_006231.3(POLE):c.2343_2345delGGC rs1064796065
NM_006231.3(POLE):c.2347G>A (p.Val783Met) rs371085002
NM_006231.3(POLE):c.2348T>C (p.Val783Ala) rs1269621526
NM_006231.3(POLE):c.2350G>A (p.Glu784Lys) rs147427999
NM_006231.3(POLE):c.2358C>T (p.Gly786=) rs1278181584
NM_006231.3(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.3(POLE):c.235G>A (p.Gly79Ser) rs376927142
NM_006231.3(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.3(POLE):c.2363C>T (p.Ala788Val) rs1060500813
NM_006231.3(POLE):c.2374A>G (p.Lys792Glu) rs1565962393
NM_006231.3(POLE):c.2377C>T (p.Arg793Cys) rs376624527
NM_006231.3(POLE):c.2378G>A (p.Arg793His) rs1422986795
NM_006231.3(POLE):c.2378G>T (p.Arg793Leu) rs1422986795
NM_006231.3(POLE):c.2382C>T (p.Cys794=) rs767271169
NM_006231.3(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.3(POLE):c.2385G>A (p.Lys795=) rs761666105
NM_006231.3(POLE):c.2389A>G (p.Met797Val) rs142196181
NM_006231.3(POLE):c.2389A>T (p.Met797Leu) rs142196181
NM_006231.3(POLE):c.239G>A (p.Ser80Asn) rs1064795406
NM_006231.3(POLE):c.2402A>G (p.Tyr801Cys) rs1060500825
NM_006231.3(POLE):c.2408C>T (p.Ser803Leu) rs1565962323
NM_006231.3(POLE):c.2411T>G (p.Leu804Arg) rs201668507
NM_006231.3(POLE):c.241G>A (p.Ala81Thr) rs749720207
NM_006231.3(POLE):c.2423A>G (p.His808Arg) rs1060500854
NM_006231.3(POLE):c.2428T>C (p.Cys810Arg) rs753421179
NM_006231.3(POLE):c.2429G>A (p.Cys810Tyr) rs1565962279
NM_006231.3(POLE):c.242C>T (p.Ala81Val) rs780246896
NM_006231.3(POLE):c.2432T>C (p.Ile811Thr) rs1593785252
NM_006231.3(POLE):c.2439C>A (p.Asn813Lys) rs1593785243
NM_006231.3(POLE):c.2453A>G (p.Tyr818Cys) rs148691442
NM_006231.3(POLE):c.2455G>C (p.Val819Leu) rs1555226692
NM_006231.3(POLE):c.2459T>C (p.Met820Thr) rs767460640
NM_006231.3(POLE):c.2462G>A (p.Arg821His) rs757051826
NM_006231.3(POLE):c.2462G>T (p.Arg821Leu) rs757051826
NM_006231.3(POLE):c.2465_2467dup (p.Gly823_Ala824insGlu) rs1237046519
NM_006231.3(POLE):c.2468+1G>A rs1060500806
NM_006231.3(POLE):c.2468+2dup rs1555226665
NM_006231.3(POLE):c.2468+4G>A rs1555226663
NM_006231.3(POLE):c.2468+4G>C rs1555226663
NM_006231.3(POLE):c.2468G>C (p.Gly823Ala) rs1593785122
NM_006231.3(POLE):c.2469-10G>A rs1060500870
NM_006231.3(POLE):c.2469-5C>T rs1565961371
NM_006231.3(POLE):c.2469G>A (p.Gly823=) rs1006182755
NM_006231.3(POLE):c.2473C>T (p.Arg825Cys) rs200283666
NM_006231.3(POLE):c.2473_2492del (p.Arg825fs) rs1593783115
NM_006231.3(POLE):c.2474G>A (p.Arg825His) rs1555226511
NM_006231.3(POLE):c.2474G>T (p.Arg825Leu) rs1555226511
NM_006231.3(POLE):c.2477G>T (p.Trp826Leu) rs1565961348
NM_006231.3(POLE):c.2485A>G (p.Met829Val) rs762395135
NM_006231.3(POLE):c.2486T>C (p.Met829Thr) rs1060500860
NM_006231.3(POLE):c.2487G>A (p.Met829Ile) rs372109189
NM_006231.3(POLE):c.2492T>G (p.Met831Arg) rs749619971
NM_006231.3(POLE):c.2499C>T (p.Gly833=) rs1593783087
NM_006231.3(POLE):c.2503G>A (p.Val835Ile) rs1013082648
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) rs139182500
NM_006231.3(POLE):c.2513C>T (p.Thr838Ile) rs1593783045
NM_006231.3(POLE):c.2527A>G (p.Ile843Val) rs780758461
NM_006231.3(POLE):c.2536G>T (p.Ala846Ser) rs1555226498
NM_006231.3(POLE):c.2537C>T (p.Ala846Val) rs1060500798
NM_006231.3(POLE):c.2544G>C (p.Glu848Asp) rs374905660
NM_006231.3(POLE):c.254A>G (p.Tyr85Cys) rs1565981016
NM_006231.3(POLE):c.2550C>G (p.Ile850Met) rs5744834
NM_006231.3(POLE):c.2551G>T (p.Glu851Ter) rs903152944
NM_006231.3(POLE):c.255_257del (p.Phe86del) rs1565981011
NM_006231.3(POLE):c.2561+1G>A rs1565961210
NM_006231.3(POLE):c.2561+5G>A rs1555226494
NM_006231.3(POLE):c.2562-2A>C rs751662353
NM_006231.3(POLE):c.2562-5T>G rs1461925348
NM_006231.3(POLE):c.2566C>T (p.Pro856Ser) rs1555226454
NM_006231.3(POLE):c.2575C>T (p.Leu859=) rs1565960909
NM_006231.3(POLE):c.2587G>C (p.Gly863Arg) rs1593782300
NM_006231.3(POLE):c.2590A>G (p.Ile864Val) rs753146351
NM_006231.3(POLE):c.2592A>G (p.Ile864Met) rs1593782285
NM_006231.3(POLE):c.2599G>A (p.Val867Ile) rs374200895
NM_006231.3(POLE):c.259A>G (p.Ile87Val) rs1223305093
NM_006231.3(POLE):c.25C>T (p.Arg9Trp) rs1480510431
NM_006231.3(POLE):c.2609A>G (p.Asn870Ser) rs1060500875
NM_006231.3(POLE):c.260T>C (p.Ile87Thr) rs1565980997
NM_006231.3(POLE):c.2610C>G (p.Asn870Lys) rs1057524008
NM_006231.3(POLE):c.2612G>C (p.Ser871Thr) rs770470552
NM_006231.3(POLE):c.2626T>C (p.Phe876Leu) rs1208731306
NM_006231.3(POLE):c.2630T>C (p.Val877Ala) rs1565960854
NM_006231.3(POLE):c.2635A>G (p.Lys879Glu) rs760333190
NM_006231.3(POLE):c.2636A>G (p.Lys879Arg) rs1555226439
NM_006231.3(POLE):c.2638A>G (p.Thr880Ala) rs138548494
NM_006231.3(POLE):c.2638_2639delinsCT (p.Thr880Leu) rs1555226437
NM_006231.3(POLE):c.2639C>T (p.Thr880Met) rs1337524033
NM_006231.3(POLE):c.2644A>C (p.Asn882His) rs1455015315
NM_006231.3(POLE):c.2648T>C (p.Val883Ala) rs1555226430
NM_006231.3(POLE):c.2659A>T (p.Lys887Ter) rs1060500878
NM_006231.3(POLE):c.2660A>G (p.Lys887Arg) rs1434657574
NM_006231.3(POLE):c.2662G>A (p.Val888Met) rs1314058108
NM_006231.3(POLE):c.2666C>A (p.Thr889Asn) rs768534409
NM_006231.3(POLE):c.2666C>T (p.Thr889Ile) rs768534409
NM_006231.3(POLE):c.2668A>G (p.Ile890Val) rs749012938
NM_006231.3(POLE):c.266A>C (p.Asp89Ala) rs756843283
NM_006231.3(POLE):c.2678C>T (p.Pro893Leu) rs1555226423
NM_006231.3(POLE):c.2682C>T (p.Gly894=) rs757453683
NM_006231.3(POLE):c.2684C>T (p.Ala895Val) rs1458833255
NM_006231.3(POLE):c.268G>A (p.Asp90Asn) rs1431544569
NM_006231.3(POLE):c.2695A>G (p.Ile899Val) rs1555226418
NM_006231.3(POLE):c.2701G>A (p.Val901Ile) rs1565960706
NM_006231.3(POLE):c.2706+10G>A rs372609836
NM_006231.3(POLE):c.2706+2T>C rs1555226411
NM_006231.3(POLE):c.2706+5G>A rs375931088
NM_006231.3(POLE):c.2707-2A>G rs1593777670
NM_006231.3(POLE):c.2707-3C>T rs1555226069
NM_006231.3(POLE):c.2707-9G>A rs1057521516
NM_006231.3(POLE):c.2707G>T (p.Glu903Ter) rs1555226066
NM_006231.3(POLE):c.270C>G (p.Asp90Glu) rs751104931
NM_006231.3(POLE):c.270del (p.Asp90fs) rs878854854
NM_006231.3(POLE):c.2711G>T (p.Gly904Val) rs1332965505
NM_006231.3(POLE):c.2716A>G (p.Thr906Ala) rs935816567
NM_006231.3(POLE):c.271G>A (p.Gly91Arg) rs1316316435
NM_006231.3(POLE):c.2720A>G (p.Asn907Ser) rs1593777633
NM_006231.3(POLE):c.2722G>A (p.Asp908Asn) rs1565958703
NM_006231.3(POLE):c.2725dup (p.Gln909fs) rs1555226059
NM_006231.3(POLE):c.272G>A (p.Gly91Glu) rs376348304
NM_006231.3(POLE):c.2731del (p.Gln911fs) rs1555226051
NM_006231.3(POLE):c.2732A>C (p.Gln911Pro) rs1348033236
NM_006231.3(POLE):c.274A>C (p.Ser92Arg) rs758382516
NM_006231.3(POLE):c.2759C>G (p.Thr920Ser) rs899872545
NM_006231.3(POLE):c.2764G>A (p.Val922Ile) rs551966935
NM_006231.3(POLE):c.2770C>A (p.Arg924Ser) rs369751686
NM_006231.3(POLE):c.2770C>T (p.Arg924Cys) rs369751686
NM_006231.3(POLE):c.2771G>A (p.Arg924His) rs763594644
NM_006231.3(POLE):c.2773T>C (p.Ser925Pro) rs141552148
NM_006231.3(POLE):c.2774C>T (p.Ser925Leu) rs752724850
NM_006231.3(POLE):c.2785A>G (p.Ile929Val) rs765066823
NM_006231.3(POLE):c.2792T>C (p.Phe931Ser) rs376546593
NM_006231.3(POLE):c.2801A>G (p.Asp934Gly) rs1242503528
NM_006231.3(POLE):c.2811C>A (p.Tyr937Ter) rs1593777350
NM_006231.3(POLE):c.2812C>T (p.Leu938Phe) rs773475133
NM_006231.3(POLE):c.2818A>G (p.Met940Val) rs148382941
NM_006231.3(POLE):c.2820G>A (p.Met940Ile) rs778869932
NM_006231.3(POLE):c.2821A>G (p.Ile941Val) rs1060500887
NM_006231.3(POLE):c.2824C>T (p.Leu942Phe) rs1555226025
NM_006231.3(POLE):c.2830G>T (p.Ala944Ser) rs1190451103
NM_006231.3(POLE):c.2847C>T (p.Gly949=) rs1555226021
NM_006231.3(POLE):c.2852A>C (p.Lys951Thr) rs1555226017
NM_006231.3(POLE):c.285G>A (p.Lys95=) rs1060500794
NM_006231.3(POLE):c.286-3C>A rs1555230255
NM_006231.3(POLE):c.286-3C>T rs1555230255
NM_006231.3(POLE):c.286-7T>G rs761992330
NM_006231.3(POLE):c.2864+3G>A rs1060500856
NM_006231.3(POLE):c.2865-2A>G rs867360056
NM_006231.3(POLE):c.2865-3C>T rs1203095918
NM_006231.3(POLE):c.2865-3del rs1555225973
NM_006231.3(POLE):c.2865-4T>C rs1060500840
NM_006231.3(POLE):c.2872G>A (p.Val958Met) rs1443635519
NM_006231.3(POLE):c.2879A>G (p.Asn960Ser) rs746311547
NM_006231.3(POLE):c.2880T>G (p.Asn960Lys) rs1555225966
NM_006231.3(POLE):c.2887G>A (p.Gly963Ser) rs751237672
NM_006231.3(POLE):c.2888G>A (p.Gly963Asp) rs777454763
NM_006231.3(POLE):c.28C>T (p.Arg10Cys) rs1245695191
NM_006231.3(POLE):c.2917G>T (p.Val973Phe) rs764690414
NM_006231.3(POLE):c.2919C>A (p.Val973=) rs1060500819
NM_006231.3(POLE):c.2923C>T (p.Arg975Cys) rs753759783
NM_006231.3(POLE):c.2924G>A (p.Arg975His) rs766224584
NM_006231.3(POLE):c.2926C>T (p.Arg976Cys) rs1060500820
NM_006231.3(POLE):c.2927G>A (p.Arg976His) rs878854857
NM_006231.3(POLE):c.292T>G (p.Leu98Val) rs1593086455
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.3(POLE):c.295C>G (p.Pro99Ala) rs1060500863
NM_006231.3(POLE):c.295C>T (p.Pro99Ser) rs1060500863
NM_006231.3(POLE):c.2960C>A (p.Ser987Tyr) rs1593776064
NM_006231.3(POLE):c.2960C>T (p.Ser987Phe) rs1593776064
NM_006231.3(POLE):c.2963C>T (p.Ser988Leu) rs138391248
NM_006231.3(POLE):c.2964G>A (p.Ser988=) rs200080353
NM_006231.3(POLE):c.2965G>T (p.Val989Leu) rs529927099
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2974G>A (p.Ala992Thr) rs115193764
NM_006231.3(POLE):c.2993C>T (p.Thr998Met) rs989886155
NM_006231.3(POLE):c.2T>A (p.Met1Lys) rs879254126
NM_006231.3(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.3(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.3(POLE):c.3014C>T (p.Ser1005Phe) rs550579850
NM_006231.3(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.3(POLE):c.301A>G (p.Lys101Glu) rs560654523
NM_006231.3(POLE):c.302A>G (p.Lys101Arg) rs1016258970
NM_006231.3(POLE):c.3031G>A (p.Asp1011Asn) rs1593775859
NM_006231.3(POLE):c.3039G>A (p.Trp1013Ter) rs1593775821
NM_006231.3(POLE):c.3060+1_3060+2dup rs1593775678
NM_006231.3(POLE):c.3060+2T>G rs775843286
NM_006231.3(POLE):c.3060G>A (p.Lys1020=) rs878854858
NM_006231.3(POLE):c.3071T>C (p.Met1024Thr) rs1565956324
NM_006231.3(POLE):c.3072G>T (p.Met1024Ile) rs1060500791
NM_006231.3(POLE):c.3074dup (p.Pro1025_Asp1026insTer) rs1565956310
NM_006231.3(POLE):c.3076_3096dup (p.Asp1026_Leu1032dup) rs1555225690
NM_006231.3(POLE):c.307T>C (p.Tyr103His) rs1292121980
NM_006231.3(POLE):c.3086T>C (p.Leu1029Pro) rs1228020822
NM_006231.3(POLE):c.3089T>A (p.Phe1030Tyr) rs1565956275
NM_006231.3(POLE):c.3090C>A (p.Phe1030Leu) rs766306895
NM_006231.3(POLE):c.3094C>T (p.Leu1032Phe) rs1555225694
NM_006231.3(POLE):c.3109C>T (p.Arg1037Cys) rs948001596
NM_006231.3(POLE):c.3121C>T (p.Arg1041Trp) rs762140272
NM_006231.3(POLE):c.3122G>A (p.Arg1041Gln) rs774645622
NM_006231.3(POLE):c.3125A>G (p.Lys1042Arg) rs1593772654
NM_006231.3(POLE):c.3130G>A (p.Glu1044Lys) rs1060500869
NM_006231.3(POLE):c.3130G>C (p.Glu1044Gln) rs1060500869
NM_006231.3(POLE):c.3139G>A (p.Gly1047Arg) rs1555225676
NM_006231.3(POLE):c.3140G>A (p.Gly1047Glu) rs1593772586
NM_006231.3(POLE):c.3142G>A (p.Glu1048Lys) rs1164020030
NM_006231.3(POLE):c.314A>T (p.Tyr105Phe) rs1451750169
NM_006231.3(POLE):c.3151T>C (p.Ser1051Pro) rs1064796258
NM_006231.3(POLE):c.3154A>G (p.Thr1052Ala) rs557710829
NM_006231.3(POLE):c.3155_3156delinsTA (p.Thr1052Ile) rs1593772548
NM_006231.3(POLE):c.3170C>T (p.Ala1057Val) rs975893534
NM_006231.3(POLE):c.3175C>T (p.Arg1059Cys) rs1555225670
NM_006231.3(POLE):c.3176G>T (p.Arg1059Leu) rs751425952
NM_006231.3(POLE):c.317T>C (p.Ile106Thr) rs1593086361
NM_006231.3(POLE):c.3196G>A (p.Asp1066Asn) rs1060500851
NM_006231.3(POLE):c.3198C>A (p.Asp1066Glu) rs1555225663
NM_006231.3(POLE):c.31G>A (p.Ala11Thr) rs1593099072
NM_006231.3(POLE):c.3203T>C (p.Met1068Thr) rs375338204
NM_006231.3(POLE):c.320C>T (p.Ala107Val) rs878854860
NM_006231.3(POLE):c.3214G>A (p.Ala1072Thr) rs1555225652
NM_006231.3(POLE):c.3219G>T (p.Gly1073=) rs760636704
NM_006231.3(POLE):c.3229C>G (p.Arg1077Gly) rs149777592
NM_006231.3(POLE):c.3229C>T (p.Arg1077Cys) rs149777592
NM_006231.3(POLE):c.3229_3241delinsGG (p.Arg1077fs) rs1064792919
NM_006231.3(POLE):c.322A>T (p.Thr108Ser) rs1565980550
NM_006231.3(POLE):c.3230G>A (p.Arg1077His) rs768950975
NM_006231.3(POLE):c.3235A>G (p.Ile1079Val) rs775002004
NM_006231.3(POLE):c.3240C>G (p.Ile1080Met) rs769386598
NM_006231.3(POLE):c.3244C>T (p.Arg1082Cys) rs745349336
NM_006231.3(POLE):c.3245G>A (p.Arg1082His) rs201744227
NM_006231.3(POLE):c.3247A>C (p.Lys1083Gln) rs1260941612
NM_006231.3(POLE):c.3257G>A (p.Gly1086Asp) rs1060500778
NM_006231.3(POLE):c.3269C>T (p.Thr1090Met) rs1030360914
NM_006231.3(POLE):c.326G>A (p.Arg109Lys) rs1555230239
NM_006231.3(POLE):c.3270G>A (p.Thr1090=) rs758258927
NM_006231.3(POLE):c.3275+1G>A rs1402672053
NM_006231.3(POLE):c.3275+4A>T rs1593772121
NM_006231.3(POLE):c.3275+6G>T rs1060500874
NM_006231.3(POLE):c.3275G>C (p.Arg1092Thr) rs1060500857
NM_006231.3(POLE):c.3276-2A>G rs1060500838
NM_006231.3(POLE):c.3276-3C>G rs781306395
NM_006231.3(POLE):c.3276-5C>G rs1293099867
NM_006231.3(POLE):c.3278C>G (p.Ala1093Gly) rs1565954149
NM_006231.3(POLE):c.3292A>G (p.Ile1098Val) rs1274951129
NM_006231.3(POLE):c.32C>T (p.Ala11Val) rs1060500821
NM_006231.3(POLE):c.330+3G>A rs369152225
NM_006231.3(POLE):c.3305A>C (p.Glu1102Ala) rs1555225324
NM_006231.3(POLE):c.3308C>A (p.Pro1103His) rs759126051
NM_006231.3(POLE):c.331-1G>A rs1555230196
NM_006231.3(POLE):c.331-2A>G rs1565980363
NM_006231.3(POLE):c.331-3T>C rs1269825866
NM_006231.3(POLE):c.331-3T>G rs1269825866
NM_006231.3(POLE):c.3311C>T (p.Thr1104Met) rs531705054
NM_006231.3(POLE):c.3318G>T (p.Arg1106Ser) rs760237541
NM_006231.3(POLE):c.3320A>G (p.Lys1107Arg) rs1060500800
NM_006231.3(POLE):c.3327dup (p.Leu1110fs) rs1555225319
NM_006231.3(POLE):c.3328C>A (p.Leu1110Ile) rs1555225317
NM_006231.3(POLE):c.3328C>G (p.Leu1110Val) rs1555225317
NM_006231.3(POLE):c.3332G>A (p.Arg1111Gln) rs114315196
NM_006231.3(POLE):c.3335A>C (p.Lys1112Thr) rs1555225311
NM_006231.3(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.3(POLE):c.3338G>C (p.Trp1113Ser) rs1461016090
NM_006231.3(POLE):c.3347_3350delinsTT (p.Ser1116fs) rs1555225303
NM_006231.3(POLE):c.3348C>G (p.Ser1116Arg) rs1593767712
NM_006231.3(POLE):c.3349T>C (p.Ser1117Pro) rs777793030
NM_006231.3(POLE):c.3350C>T (p.Ser1117Phe) rs1555225302
NM_006231.3(POLE):c.3355C>T (p.Leu1119Phe) rs376921543
NM_006231.3(POLE):c.3359A>C (p.Gln1120Pro) rs1565953982
NM_006231.3(POLE):c.3367G>C (p.Asp1123His) rs1565953965
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.3374G>A (p.Arg1125Gln) rs1565953956
NM_006231.3(POLE):c.3376G>T (p.Ala1126Ser) rs1555225288
NM_006231.3(POLE):c.3377C>T (p.Ala1126Val) rs373707446
NM_006231.3(POLE):c.3382C>G (p.Leu1128Val) rs755839896
NM_006231.3(POLE):c.3388T>C (p.Trp1130Arg) rs1593766757
NM_006231.3(POLE):c.3392A>G (p.Asp1131Gly) rs1593766748
NM_006231.3(POLE):c.3393C>G (p.Asp1131Glu) rs750084800
NM_006231.3(POLE):c.3400A>C (p.Ile1134Leu) rs1060500888
NM_006231.3(POLE):c.3401T>C (p.Ile1134Thr) rs1054915845
NM_006231.3(POLE):c.3406C>T (p.Arg1136Trp) rs531475854
NM_006231.3(POLE):c.3407G>A (p.Arg1136Gln) rs761355093
NM_006231.3(POLE):c.340C>T (p.Arg114Ter) rs1555230189
NM_006231.3(POLE):c.3418G>A (p.Ala1140Thr) rs775271152
NM_006231.3(POLE):c.341G>A (p.Arg114Gln) rs375785166
NM_006231.3(POLE):c.3432C>G (p.Ile1144Met) rs772089151
NM_006231.3(POLE):c.3434_3436delTCA rs976070874
NM_006231.3(POLE):c.3437C>G (p.Thr1146Ser) rs1555225192
NM_006231.3(POLE):c.343G>A (p.Glu115Lys) rs1565980334
NM_006231.3(POLE):c.3443C>G (p.Pro1148Arg) rs1060500886
NM_006231.3(POLE):c.3446C>T (p.Ala1149Val) rs778212434
NM_006231.3(POLE):c.3447G>A (p.Ala1149=) rs758702382
NM_006231.3(POLE):c.3459+1G>A rs1555225184
NM_006231.3(POLE):c.3459+2T>C rs1057517634
NM_006231.3(POLE):c.3459+3A>C rs1555225183
NM_006231.3(POLE):c.3459+8C>T rs375852759
NM_006231.3(POLE):c.3459G>A (p.Gln1153=) rs1060500818
NM_006231.3(POLE):c.3465G>T (p.Lys1155Asn) rs1449239461
NM_006231.3(POLE):c.3469C>G (p.Pro1157Ala) rs1593766098
NM_006231.3(POLE):c.346G>A (p.Val116Ile) rs1593086019
NM_006231.3(POLE):c.3478C>T (p.Arg1160Cys) rs777401444
NM_006231.3(POLE):c.347T>C (p.Val116Ala) rs771744496
NM_006231.3(POLE):c.3481G>A (p.Val1161Ile) rs1555225160
NM_006231.3(POLE):c.3485A>G (p.Lys1162Arg) rs1565953154
NM_006231.3(POLE):c.3493G>A (p.Asp1165Asn) rs575738148
NM_006231.3(POLE):c.3497G>A (p.Trp1166Ter) rs1426673673
NM_006231.3(POLE):c.34G>A (p.Asp12Asn) rs1355767159
NM_006231.3(POLE):c.3500T>G (p.Leu1167Arg) rs1593765990
NM_006231.3(POLE):c.3501_3502insGGTCAAA (p.His1168fs) rs1060500814
NM_006231.3(POLE):c.3506A>G (p.Lys1169Arg) rs374456899
NM_006231.3(POLE):c.3510dup (p.Leu1171fs) rs1555225149
NM_006231.3(POLE):c.3518A>G (p.Glu1173Gly) rs762150108
NM_006231.3(POLE):c.3527A>G (p.Asp1176Gly) rs1060500785
NM_006231.3(POLE):c.3534C>A (p.Tyr1178Ter) rs370133842
NM_006231.3(POLE):c.3539A>G (p.Gln1180Arg) rs1311314922
NM_006231.3(POLE):c.355T>A (p.Phe119Ile) rs879254235
NM_006231.3(POLE):c.355T>C (p.Phe119Leu) rs879254235
NM_006231.3(POLE):c.3563C>A (p.Thr1188Asn) rs1565952926
NM_006231.3(POLE):c.3572G>T (p.Gly1191Val) rs1429556469
NM_006231.3(POLE):c.3582+5C>T rs775661457
NM_006231.3(POLE):c.3582+6G>A rs113307290
NM_006231.3(POLE):c.3583-3C>T rs371139965
NM_006231.3(POLE):c.3583-4C>G rs977709348
NM_006231.3(POLE):c.3587C>T (p.Thr1196Met) rs866237249
NM_006231.3(POLE):c.358C>G (p.Leu120Val) rs888631588
NM_006231.3(POLE):c.3593C>A (p.Ala1198Asp) rs1024652254
NM_006231.3(POLE):c.3595G>A (p.Glu1199Lys) rs1012418859
NM_006231.3(POLE):c.3598G>A (p.Ala1200Thr) rs1555224126
NM_006231.3(POLE):c.3604G>A (p.Glu1202Lys) rs1565946881
NM_006231.3(POLE):c.3605A>G (p.Glu1202Gly) rs778446376
NM_006231.3(POLE):c.3611G>A (p.Ser1204Asn) rs1555224124
NM_006231.3(POLE):c.3612T>G (p.Ser1204Arg) rs773580533
NM_006231.3(POLE):c.3612dup (p.Pro1205fs) rs1555224123
NM_006231.3(POLE):c.3614C>A (p.Pro1205Gln) rs772686048
NM_006231.3(POLE):c.3614C>T (p.Pro1205Leu) rs772686048
NM_006231.3(POLE):c.3617G>T (p.Arg1206Met) rs1060500839
NM_006231.3(POLE):c.3619C>T (p.Pro1207Ser) rs878854861
NM_006231.3(POLE):c.3620C>T (p.Pro1207Leu) rs144086049
NM_006231.3(POLE):c.3622A>C (p.Ser1208Arg) rs1207616449
NM_006231.3(POLE):c.3623G>A (p.Ser1208Asn) rs781094608
NM_006231.3(POLE):c.3626C>T (p.Ala1209Val) rs1593751440
NM_006231.3(POLE):c.3629C>T (p.Pro1210Leu) rs1593751410
NM_006231.3(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.3(POLE):c.3632A>C (p.Asp1211Ala) rs1555224110
NM_006231.3(POLE):c.3634A>G (p.Met1212Val) rs1565946789
NM_006231.3(POLE):c.3635T>C (p.Met1212Thr) rs1565946781
NM_006231.3(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.3(POLE):c.3664C>T (p.His1222Tyr) rs1555224105
NM_006231.3(POLE):c.3668C>G (p.Pro1223Arg) rs766806062
NM_006231.3(POLE):c.3670G>T (p.Ala1224Ser) rs369338222
NM_006231.3(POLE):c.3671C>T (p.Ala1224Val) rs375208564
NM_006231.3(POLE):c.3672_3674dupAGC rs750939989
NM_006231.3(POLE):c.3677C>T (p.Pro1226Leu) rs1390451656
NM_006231.3(POLE):c.3677_3678del (p.Pro1226fs) rs765645032
NM_006231.3(POLE):c.3685G>A (p.Val1229Met) rs1565946654
NM_006231.3(POLE):c.3692G>A (p.Arg1231Lys) rs1271903915
NM_006231.3(POLE):c.3694A>G (p.Lys1232Glu) rs748763589
NM_006231.3(POLE):c.3695A>C (p.Lys1232Thr) rs774999422
NM_006231.3(POLE):c.3695A>G (p.Lys1232Arg) rs774999422
NM_006231.3(POLE):c.3696G>T (p.Lys1232Asn) rs546733374
NM_006231.3(POLE):c.3698G>A (p.Arg1233Gln) rs201738371
NM_006231.3(POLE):c.3713G>A (p.Ser1238Asn) rs879255392
NM_006231.3(POLE):c.3716A>G (p.Gln1239Arg) rs146210785
NM_006231.3(POLE):c.3720G>T (p.Glu1240Asp) rs1565946565
NM_006231.3(POLE):c.3721G>T (p.Glu1241Ter) rs779261309
NM_006231.3(POLE):c.3725C>G (p.Ser1242Cys) rs373213156
NM_006231.3(POLE):c.3725C>T (p.Ser1242Phe) rs373213156
NM_006231.3(POLE):c.3727C>T (p.Gln1243Ter) rs949436167
NM_006231.3(POLE):c.3733C>T (p.Leu1245Phe) rs1431438300
NM_006231.3(POLE):c.3737C>G (p.Thr1246Arg) rs750902578
NM_006231.3(POLE):c.3737C>T (p.Thr1246Met) rs750902578
NM_006231.3(POLE):c.3740C>T (p.Pro1247Leu) rs572986717
NM_006231.3(POLE):c.3745G>A (p.Val1249Met) rs762626359
NM_006231.3(POLE):c.3757G>C (p.Glu1253Gln) rs1184564186
NM_006231.3(POLE):c.3758A>G (p.Glu1253Gly) rs1483605737
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
NM_006231.3(POLE):c.3778G>A (p.Ala1260Thr) rs143858927
NM_006231.3(POLE):c.3787A>G (p.Thr1263Ala) rs1025864203
NM_006231.3(POLE):c.3788C>T (p.Thr1263Ile) rs1555224039
NM_006231.3(POLE):c.3794A>T (p.Gln1265Leu) rs1555224038
NM_006231.3(POLE):c.3795+5G>A rs1593750763
NM_006231.3(POLE):c.3795+8_3795+13delinsTGGTGATA rs1593750735
NM_006231.3(POLE):c.3796G>A (p.Glu1266Lys) rs984562653
NM_006231.3(POLE):c.3808G>A (p.Val1270Ile) rs199574832
NM_006231.3(POLE):c.3812G>C (p.Trp1271Ser) rs778038028
NM_006231.3(POLE):c.3813G>A (p.Trp1271Ter) rs1274554341
NM_006231.3(POLE):c.3817C>T (p.Arg1273Trp) rs758784435
NM_006231.3(POLE):c.3818G>A (p.Arg1273Gln) rs377324348
NM_006231.3(POLE):c.3818G>T (p.Arg1273Leu) rs377324348
NM_006231.3(POLE):c.3833A>G (p.Lys1278Arg) rs1209509734
NM_006231.3(POLE):c.3850C>T (p.Arg1284Trp) rs753426630
NM_006231.3(POLE):c.3856C>T (p.Arg1286Cys) rs373170535
NM_006231.3(POLE):c.3857G>A (p.Arg1286His) rs771823596
NM_006231.3(POLE):c.3857G>T (p.Arg1286Leu) rs771823596
NM_006231.3(POLE):c.3858_3881del (p.Ala1288_Leu1295del) rs759449495
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) rs200398117
NM_006231.3(POLE):c.3865C>A (p.Arg1289Ser) rs770036124
NM_006231.3(POLE):c.3866G>A (p.Arg1289His) rs781298285
NM_006231.3(POLE):c.3867C>T (p.Arg1289=) rs1593750051
NM_006231.3(POLE):c.3870G>C (p.Arg1290Ser) rs1206673155
NM_006231.3(POLE):c.3872A>G (p.Lys1291Arg) rs878854864
NM_006231.3(POLE):c.3880C>T (p.Arg1294Cys) rs770966534
NM_006231.3(POLE):c.3881G>A (p.Arg1294His) rs115455318
NM_006231.3(POLE):c.3881G>T (p.Arg1294Leu) rs115455318
NM_006231.3(POLE):c.3883C>A (p.Leu1295Met) rs1184724406
NM_006231.3(POLE):c.3890C>T (p.Ser1297Leu) rs746585658
NM_006231.3(POLE):c.3892G>A (p.Ala1298Thr) rs1593749930
NM_006231.3(POLE):c.38C>T (p.Pro13Leu) rs878854865
NM_006231.3(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.3(POLE):c.3905T>C (p.Leu1302Pro) rs766058852
NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) rs563990655
NM_006231.3(POLE):c.3914G>A (p.Gly1305Glu) rs761617609
NM_006231.3(POLE):c.3914G>C (p.Gly1305Ala) rs761617609
NM_006231.3(POLE):c.3916G>A (p.Ala1306Thr) rs774219559
NM_006231.3(POLE):c.3919A>G (p.Ile1307Val) rs1000912264
NM_006231.3(POLE):c.391G>T (p.Val131Leu) rs745601745
NM_006231.3(POLE):c.3922C>T (p.Arg1308Trp) rs763854815
NM_006231.3(POLE):c.3923G>A (p.Arg1308Gln) rs759793243
NM_006231.3(POLE):c.3925G>A (p.Asp1309Asn) rs1555223943
NM_006231.3(POLE):c.3925G>T (p.Asp1309Tyr) rs1555223943
NM_006231.3(POLE):c.3926A>G (p.Asp1309Gly) rs776828609
NM_006231.3(POLE):c.3932C>T (p.Pro1311Leu) rs1042198717
NM_006231.3(POLE):c.3934G>A (p.Ala1312Thr) rs1565945759
NM_006231.3(POLE):c.3937A>G (p.Thr1313Ala) rs878854866
NM_006231.3(POLE):c.3938C>T (p.Thr1313Met) rs949243552
NM_006231.3(POLE):c.3942G>T (p.Gly1314=) rs1177628476
NM_006231.3(POLE):c.3942del (p.Leu1315fs) rs1555223939
NM_006231.3(POLE):c.3946G>A (p.Gly1316Arg) rs1593749696
NM_006231.3(POLE):c.3949A>G (p.Ser1317Gly) rs1593749688
NM_006231.3(POLE):c.3958C>T (p.Arg1320Ter) rs754411056
NM_006231.3(POLE):c.3959G>A (p.Arg1320Gln) rs772663586
NM_006231.3(POLE):c.3968C>T (p.Ala1323Val) rs550525366
NM_006231.3(POLE):c.3970C>T (p.Arg1324Cys) rs779464847
NM_006231.3(POLE):c.3971G>A (p.Arg1324His) rs143981093
NM_006231.3(POLE):c.3971G>T (p.Arg1324Leu) rs143981093
NM_006231.3(POLE):c.3976A>G (p.Ile1326Val) rs557996561
NM_006231.3(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745
NM_006231.3(POLE):c.3997A>G (p.Ile1333Val) rs751467689
NM_006231.3(POLE):c.3G>A (p.Met1Ile) rs1555231433
NM_006231.3(POLE):c.4006-1G>T rs1057519256
NM_006231.3(POLE):c.4006-2A>T rs1593748950
NM_006231.3(POLE):c.4006-3C>A rs1593748957
NM_006231.3(POLE):c.4006-3C>T rs1593748957
NM_006231.3(POLE):c.4006-8C>A rs745486661
NM_006231.3(POLE):c.4015A>G (p.Thr1339Ala) rs1555223881
NM_006231.3(POLE):c.4018A>G (p.Ser1340Gly) rs1248556901
NM_006231.3(POLE):c.4024G>A (p.Ala1342Thr) rs1301501264
NM_006231.3(POLE):c.4027G>A (p.Gly1343Ser) rs556821288
NM_006231.3(POLE):c.4031T>C (p.Leu1344Pro) rs368111350
NM_006231.3(POLE):c.403C>T (p.Pro135Ser) rs1060500817
NM_006231.3(POLE):c.4045G>C (p.Ala1349Pro) rs1555223876
NM_006231.3(POLE):c.4046C>T (p.Ala1349Val) rs536988344
NM_006231.3(POLE):c.404C>A (p.Pro135His) rs1565980234
NM_006231.3(POLE):c.4051G>A (p.Val1351Ile) rs138443282
NM_006231.3(POLE):c.4055G>C (p.Gly1352Ala) rs147088333
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4059T>G (p.Ser1353Arg) rs1555223871
NM_006231.3(POLE):c.4062C>A (p.Asp1354Glu) rs762002242
NM_006231.3(POLE):c.4069T>C (p.Cys1357Arg) rs1565945381
NM_006231.3(POLE):c.4077G>T (p.Arg1359Ser) rs1064796047
NM_006231.3(POLE):c.4079T>C (p.Leu1360Pro) rs1565945357
NM_006231.3(POLE):c.407A>G (p.Lys136Arg) rs752771738
NM_006231.3(POLE):c.4088C>T (p.Pro1363Leu) rs1399456425
NM_006231.3(POLE):c.4091G>A (p.Arg1364His) rs369171111
NM_006231.3(POLE):c.4100A>G (p.Tyr1367Cys) rs1365073969
NM_006231.3(POLE):c.4102G>A (p.Val1368Met) rs770558983
NM_006231.3(POLE):c.4106A>G (p.Asn1369Ser) rs746524982
NM_006231.3(POLE):c.4111C>T (p.Arg1371Ter) rs151278283
NM_006231.3(POLE):c.4112G>A (p.Arg1371Gln) rs535074635
NM_006231.3(POLE):c.4114G>A (p.Val1372Ile) rs752606831
NM_006231.3(POLE):c.4122A>T (p.Lys1374Asn) rs878854867
NM_006231.3(POLE):c.4123G>A (p.Ala1375Thr) rs1390398091
NM_006231.3(POLE):c.4123G>T (p.Ala1375Ser) rs1390398091
NM_006231.3(POLE):c.4124C>T (p.Ala1375Val) rs766168647
NM_006231.3(POLE):c.412G>C (p.Asp138His) rs1593085858
NM_006231.3(POLE):c.4133G>T (p.Gly1378Val) rs1593748424
NM_006231.3(POLE):c.4135G>A (p.Ala1379Thr) rs1565945249
NM_006231.3(POLE):c.4139C>T (p.Ser1380Leu) rs762090058
NM_006231.3(POLE):c.4142A>G (p.Tyr1381Cys) rs1593748376
NM_006231.3(POLE):c.4144C>G (p.Arg1382Gly) rs5744904
NM_006231.3(POLE):c.4144C>T (p.Arg1382Cys) rs5744904
NM_006231.3(POLE):c.4145G>A (p.Arg1382His) rs143229302
NM_006231.3(POLE):c.4149+2T>C rs1064796760
NM_006231.3(POLE):c.4149+3A>C rs1358505756
NM_006231.3(POLE):c.4149+3A>G rs1358505756
NM_006231.3(POLE):c.4149+4G>A rs1265596566
NM_006231.3(POLE):c.414T>G (p.Asp138Glu) rs1593085852
NM_006231.3(POLE):c.4150-1G>C rs1372928198
NM_006231.3(POLE):c.4150-5G>A rs771624962
NM_006231.3(POLE):c.4150-8C>A rs760355462
NM_006231.3(POLE):c.4150-8C>G rs760355462
NM_006231.3(POLE):c.4156C>T (p.Arg1386Trp) rs747619107
NM_006231.3(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.3(POLE):c.4157G>C (p.Arg1386Pro) rs969355093
NM_006231.3(POLE):c.4168C>T (p.Arg1390Cys) rs768504121
NM_006231.3(POLE):c.4169G>A (p.Arg1390His) rs200776293
NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys) rs149145495
NM_006231.3(POLE):c.4177A>G (p.Met1393Val) rs747294604
NM_006231.3(POLE):c.4179G>T (p.Met1393Ile) rs778153462
NM_006231.3(POLE):c.4183T>C (p.Tyr1395His) rs752751096
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4188_4195delinsA (p.Asn1396fs) rs1555223097
NM_006231.3(POLE):c.4193A>G (p.Tyr1398Cys) rs878854868
NM_006231.3(POLE):c.4193_4194del (p.Leu1397_Tyr1398insTer) rs1323151304
NM_006231.3(POLE):c.4195G>A (p.Glu1399Lys) rs5744935
NM_006231.3(POLE):c.4195G>C (p.Glu1399Gln) rs5744935
NM_006231.3(POLE):c.4198T>C (p.Tyr1400His) rs761011442
NM_006231.3(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579
NM_006231.3(POLE):c.4213G>A (p.Asp1405Asn) rs1193196213
NM_006231.3(POLE):c.4216A>G (p.Met1406Val) rs1452685600
NM_006231.3(POLE):c.4217T>C (p.Met1406Thr) rs749250454
NM_006231.3(POLE):c.4218G>A (p.Met1406Ile) rs1060500841
NM_006231.3(POLE):c.4220A>G (p.Tyr1407Cys) rs775556994
NM_006231.3(POLE):c.4220A>T (p.Tyr1407Phe) rs775556994
NM_006231.3(POLE):c.4225G>A (p.Glu1409Lys) rs1060500845
NM_006231.3(POLE):c.4229A>C (p.His1410Pro) rs1313711311
NM_006231.3(POLE):c.4231A>G (p.Ile1411Val) rs1233033042
NM_006231.3(POLE):c.4231_4232del (p.Ile1411fs) rs1593736079
NM_006231.3(POLE):c.4233C>G (p.Ile1411Met) rs1555223081
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.3(POLE):c.424-1G>A rs1555230115
NM_006231.3(POLE):c.424-2A>G rs1555230117
NM_006231.3(POLE):c.424-3T>C rs1555230120
NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006231.3(POLE):c.4247C>T (p.Ala1416Val) rs1593735980
NM_006231.3(POLE):c.4249G>C (p.Glu1417Gln) rs1593735965
NM_006231.3(POLE):c.4249_4251delinsCT (p.Glu1417fs) rs1555223073
NM_006231.3(POLE):c.4267A>G (p.Ile1423Val) rs139498590
NM_006231.3(POLE):c.4270G>A (p.Glu1424Lys) rs575419120
NM_006231.3(POLE):c.4276G>A (p.Val1426Ile) rs775072147
NM_006231.3(POLE):c.427A>C (p.Asn143His) rs889470853
NM_006231.3(POLE):c.427A>G (p.Asn143Asp) rs889470853
NM_006231.3(POLE):c.4285A>T (p.Thr1429Ser) rs759497382
NM_006231.3(POLE):c.4289A>G (p.Gln1430Arg) rs1060500836
NM_006231.3(POLE):c.4290+1G>A rs1565940214
NM_006231.3(POLE):c.4290+1G>C rs1565940214
NM_006231.3(POLE):c.4291G>C (p.Val1431Leu) rs1593735045
NM_006231.3(POLE):c.4295C>A (p.Pro1432Gln) rs371712284
NM_006231.3(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.3(POLE):c.42C>T (p.Gly14=) rs934764678
NM_006231.3(POLE):c.4306C>G (p.Arg1436Gly) rs764904030
NM_006231.3(POLE):c.4306C>T (p.Arg1436Trp) rs764904030
NM_006231.3(POLE):c.4307G>A (p.Arg1436Gln) rs754518522
NM_006231.3(POLE):c.4307G>C (p.Arg1436Pro) rs754518522
NM_006231.3(POLE):c.4318C>T (p.His1440Tyr) rs373785842
NM_006231.3(POLE):c.4319A>G (p.His1440Arg) rs1555223013
NM_006231.3(POLE):c.431A>G (p.His144Arg) rs755709875
NM_006231.3(POLE):c.4327_4328TG[5] (p.Val1446fs) rs758487568
NM_006231.3(POLE):c.4329T>G (p.Cys1443Trp) rs1565939772
NM_006231.3(POLE):c.4331T>C (p.Val1444Ala) rs767189495
NM_006231.3(POLE):c.4336G>C (p.Val1446Leu) rs878854869
NM_006231.3(POLE):c.4339G>A (p.Val1447Ile) rs1565939714
NM_006231.3(POLE):c.434T>C (p.Leu145Ser) rs1593085333
NM_006231.3(POLE):c.4352T>G (p.Leu1451Arg) rs1593734779
NM_006231.3(POLE):c.4354G>A (p.Val1452Met) rs1274067515
NM_006231.3(POLE):c.4357A>T (p.Arg1453Trp) rs1057524305
NM_006231.3(POLE):c.4360C>T (p.His1454Tyr) rs1060500842
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4371C>T (p.Gly1457=) rs771489059
NM_006231.3(POLE):c.4385C>T (p.Thr1462Ile) rs747856376
NM_006231.3(POLE):c.4388T>G (p.Phe1463Cys) rs1565939600
NM_006231.3(POLE):c.4390G>C (p.Ala1464Pro) rs778717624
NM_006231.3(POLE):c.4396G>A (p.Glu1466Lys) rs1258004616
NM_006231.3(POLE):c.4396G>C (p.Glu1466Gln) rs1258004616
NM_006231.3(POLE):c.4399C>A (p.His1467Asn) rs753417741
NM_006231.3(POLE):c.43G>A (p.Ala15Thr) rs1060500788
NM_006231.3(POLE):c.43G>C (p.Ala15Pro) rs1060500788
NM_006231.3(POLE):c.4403T>G (p.Leu1468Arg) rs1555222979
NM_006231.3(POLE):c.4404G>A (p.Leu1468=) rs1565939532
NM_006231.3(POLE):c.4411C>G (p.Arg1471Gly) rs528264567
NM_006231.3(POLE):c.4411C>T (p.Arg1471Cys) rs528264567
NM_006231.3(POLE):c.4420del (p.Ala1474fs) rs1555222974
NM_006231.3(POLE):c.4433A>G (p.Tyr1478Cys) rs1162335715
NM_006231.3(POLE):c.4441C>T (p.Pro1481Ser) rs765477380
NM_006231.3(POLE):c.4444+3A>G rs398122515
NM_006231.3(POLE):c.4444G>C (p.Gly1482Arg) rs759703428
NM_006231.3(POLE):c.4445-2A>C rs766538692
NM_006231.3(POLE):c.4445-2A>G rs766538692
NM_006231.3(POLE):c.4445-3C>T rs1555222948
NM_006231.3(POLE):c.4445G>A (p.Gly1482Glu) rs1555222946
NM_006231.3(POLE):c.444G>C (p.Leu148Phe) rs1060500797
NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) rs772734618
NM_006231.3(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.3(POLE):c.4453C>T (p.Arg1485Cys) rs969429633
NM_006231.3(POLE):c.4454G>A (p.Arg1485His) rs973405989
NM_006231.3(POLE):c.4457A>T (p.His1486Leu) rs1555222928
NM_006231.3(POLE):c.4459A>C (p.Ile1487Leu) rs1555222924
NM_006231.3(POLE):c.4459A>G (p.Ile1487Val) rs1555222924
NM_006231.3(POLE):c.4461C>T (p.Ile1487=) rs536917758
NM_006231.3(POLE):c.446A>G (p.Lys149Arg) rs374428362
NM_006231.3(POLE):c.4476C>A (p.His1492Gln) rs5744943
NM_006231.3(POLE):c.4477G>T (p.Ala1493Ser) rs748522633
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs) rs1593733806
NM_006231.3(POLE):c.4480C>G (p.Gln1494Glu) rs1443837551
NM_006231.3(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.3(POLE):c.4493C>T (p.Ala1498Val) rs751465593
NM_006231.3(POLE):c.4495C>T (p.Leu1499Phe) rs1555222907
NM_006231.3(POLE):c.449G>A (p.Arg150Gln) rs780775837
NM_006231.3(POLE):c.44C>T (p.Ala15Val) rs1565986587
NM_006231.3(POLE):c.4500C>G (p.Phe1500Leu) rs370543622
NM_006231.3(POLE):c.4501G>A (p.Gly1501Arg) rs758114596
NM_006231.3(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.3(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.3(POLE):c.4514C>T (p.Pro1505Leu) rs1060500822
NM_006231.3(POLE):c.4522C>T (p.Arg1508Cys) rs766511597
NM_006231.3(POLE):c.4525A>G (p.Arg1509Gly) rs1060500816
NM_006231.3(POLE):c.4529_4530inv (p.Ala1510Val)
NM_006231.3(POLE):c.452A>G (p.Asn151Ser) rs969812647
NM_006231.3(POLE):c.4532C>T (p.Ser1511Phe) rs1565939011
NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) rs147354120
NM_006231.3(POLE):c.4541T>C (p.Val1514Ala) rs116742454
NM_006231.3(POLE):c.4542del (p.Leu1515fs) rs878854874
NM_006231.3(POLE):c.4544T>G (p.Leu1515Arg) rs570385857
NM_006231.3(POLE):c.4547A>G (p.Asp1516Gly) rs1392919520
NM_006231.3(POLE):c.4551+10G>A rs1565938933
NM_006231.3(POLE):c.4551+2_4551+3delTG rs1251654299
NM_006231.3(POLE):c.4551+3G>A rs1565938943
NM_006231.3(POLE):c.4551T>G (p.Thr1517=) rs1033333357
NM_006231.3(POLE):c.4552-4C>G rs913720556
NM_006231.3(POLE):c.4552-5T>A rs1064795991
NM_006231.3(POLE):c.4552-9T>G rs1432965677
NM_006231.3(POLE):c.4556G>A (p.Arg1519His) rs376530977
NM_006231.3(POLE):c.4558A>G (p.Ser1520Gly) rs1021500357
NM_006231.3(POLE):c.4559G>A (p.Ser1520Asn) rs144045570
NM_006231.3(POLE):c.4559G>T (p.Ser1520Ile) rs144045570
NM_006231.3(POLE):c.4562A>G (p.Asn1521Ser) rs1565938621
NM_006231.3(POLE):c.4567A>G (p.Met1523Val) rs1209633210
NM_006231.3(POLE):c.4568T>C (p.Met1523Thr) rs529080029
NM_006231.3(POLE):c.4574G>C (p.Ser1525Thr) rs1593732744
NM_006231.3(POLE):c.4582G>T (p.Ala1528Ser) rs373468985
NM_006231.3(POLE):c.4583C>T (p.Ala1528Val) rs1292909825
NM_006231.3(POLE):c.4587G>A (p.Leu1529=) rs1565938547
NM_006231.3(POLE):c.4589A>G (p.Tyr1530Cys) rs761715703
NM_006231.3(POLE):c.4592C>T (p.Ser1531Leu) rs1555222764
NM_006231.3(POLE):c.4593_4611del (p.Ala1532fs) rs1593732546
NM_006231.3(POLE):c.4599G>C (p.Glu1533Asp) rs1593732626
NM_006231.3(POLE):c.459C>G (p.Ile153Met) rs371147799
NM_006231.3(POLE):c.4600C>T (p.His1534Tyr) rs1593732620
NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) rs138564205
NM_006231.3(POLE):c.4607T>G (p.Leu1536Arg) rs1227353804
NM_006231.3(POLE):c.4609C>T (p.Leu1537Phe) rs1418237375
NM_006231.3(POLE):c.4610T>A (p.Leu1537His) rs1555222743
NM_006231.3(POLE):c.4611_4613delCCT rs1555222739
NM_006231.3(POLE):c.4615G>A (p.Glu1539Lys) rs1593732512
NM_006231.3(POLE):c.4616A>G (p.Glu1539Gly) rs1593732502
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.462G>C (p.Arg154Ser) rs555774342
NM_006231.3(POLE):c.462G>T (p.Arg154Ser) rs555774342
NM_006231.3(POLE):c.4630G>C (p.Glu1544Gln) rs1555222735
NM_006231.3(POLE):c.4631dup (p.Leu1545fs) rs1555222731
NM_006231.3(POLE):c.4637T>G (p.Leu1546Arg) rs1565938434
NM_006231.3(POLE):c.4642C>A (p.Pro1548Thr) rs1555222725
NM_006231.3(POLE):c.4642C>T (p.Pro1548Ser) rs1555222725
NM_006231.3(POLE):c.4643C>T (p.Pro1548Leu) rs779475320
NM_006231.3(POLE):c.4645C>A (p.Pro1549Thr) rs147500308
NM_006231.3(POLE):c.4645C>T (p.Pro1549Ser) rs147500308
NM_006231.3(POLE):c.4646C>G (p.Pro1549Arg) rs577952179
NM_006231.3(POLE):c.4646C>T (p.Pro1549Leu) rs577952179
NM_006231.3(POLE):c.4647dup (p.Lys1550fs) rs754220952
NM_006231.3(POLE):c.4649A>G (p.Lys1550Arg) rs5744947
NM_006231.3(POLE):c.4651C>T (p.His1551Tyr) rs750079093
NM_006231.3(POLE):c.4654_4655delAC rs1555222708
NM_006231.3(POLE):c.4657T>C (p.Phe1553Leu) rs1565938308
NM_006231.3(POLE):c.4660G>A (p.Glu1554Lys) rs143247306
NM_006231.3(POLE):c.4663G>A (p.Val1555Ile) rs1060500799
NM_006231.3(POLE):c.4666C>G (p.Arg1556Gly) rs768741587
NM_006231.3(POLE):c.4666C>T (p.Arg1556Trp) rs768741587
NM_006231.3(POLE):c.4667G>A (p.Arg1556Gln) rs762965148
NM_006231.3(POLE):c.467C>G (p.Ser156Cys) rs1565979877
NM_006231.3(POLE):c.4680C>G (p.Asp1560Glu) rs774425403
NM_006231.3(POLE):c.4680C>T (p.Asp1560=) rs774425403
NM_006231.3(POLE):c.4689del (p.Ile1564fs) rs1555222696
NM_006231.3(POLE):c.4689dup (p.Ile1564fs) rs1555222696
NM_006231.3(POLE):c.4691T>C (p.Ile1564Thr) rs1555222691
NM_006231.3(POLE):c.4696A>G (p.Arg1566Gly) rs1365206650
NM_006231.3(POLE):c.46G>A (p.Asp16Asn) rs1241114520
NM_006231.3(POLE):c.46G>C (p.Asp16His) rs1241114520
NM_006231.3(POLE):c.4708C>T (p.Arg1570Ter) rs1037592848
NM_006231.3(POLE):c.4709G>A (p.Arg1570Gln) rs1593731992
NM_006231.3(POLE):c.4720G>A (p.Ala1574Thr) rs878854876
NM_006231.3(POLE):c.4724A>G (p.Tyr1575Cys) rs1008362127
NM_006231.3(POLE):c.4728G>A (p.Lys1576=) rs1555222662
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.4731G>A (p.Glu1577=) rs772361606
NM_006231.3(POLE):c.4731G>C (p.Glu1577Asp) rs772361606
NM_006231.3(POLE):c.4735C>G (p.Arg1579Gly) rs1060500802
NM_006231.3(POLE):c.4735C>T (p.Arg1579Cys) rs1060500802
NM_006231.3(POLE):c.4736G>A (p.Arg1579His) rs375590443
NM_006231.3(POLE):c.4738C>T (p.Arg1580Trp) rs192908615
NM_006231.3(POLE):c.4739G>A (p.Arg1580Gln) rs201950040
NM_006231.3(POLE):c.4745C>A (p.Pro1582His) rs1555222617
NM_006231.3(POLE):c.4756G>A (p.Ala1586Thr) rs746266857
NM_006231.3(POLE):c.4757C>T (p.Ala1586Val) rs915275826
NM_006231.3(POLE):c.4759G>A (p.Val1587Ile) rs372388555
NM_006231.3(POLE):c.4759G>C (p.Val1587Leu) rs372388555
NM_006231.3(POLE):c.4784G>T (p.Arg1595Met) rs1565937889
NM_006231.3(POLE):c.4785G>C (p.Arg1595Ser) rs1259912985
NM_006231.3(POLE):c.4789G>A (p.Ala1597Thr) rs752184541
NM_006231.3(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.3(POLE):c.4796A>G (p.Glu1599Gly) rs762160282
NM_006231.3(POLE):c.4799T>C (p.Ile1600Thr) rs945434123
NM_006231.3(POLE):c.47A>G (p.Asp16Gly) rs1333842547
NM_006231.3(POLE):c.47A>T (p.Asp16Val) rs1333842547
NM_006231.3(POLE):c.4801C>G (p.Pro1601Ala) rs147467247
NM_006231.3(POLE):c.4802C>G (p.Pro1601Arg) rs1593731286
NM_006231.3(POLE):c.4809G>A (p.Leu1603=) rs75378940
NM_006231.3(POLE):c.4812G>C (p.Glu1604Asp) rs1064794898
NM_006231.3(POLE):c.4813G>A (p.Glu1605Lys) rs768801696
NM_006231.3(POLE):c.4822C>G (p.Leu1608Val) rs1555222593
NM_006231.3(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.3(POLE):c.4831A>C (p.Ile1611Leu) rs551368454
NM_006231.3(POLE):c.4831A>G (p.Ile1611Val) rs551368454
NM_006231.3(POLE):c.4835G>C (p.Cys1612Ser) rs1411134935
NM_006231.3(POLE):c.4841C>T (p.Ala1614Val) rs1565937687
NM_006231.3(POLE):c.4843G>A (p.Asp1615Asn) rs1565937674
NM_006231.3(POLE):c.4847A>G (p.Lys1616Arg) rs747323052
NM_006231.3(POLE):c.484G>C (p.Asp162His) rs759492756
NM_006231.3(POLE):c.4852A>G (p.Asn1618Asp) rs377406943
NM_006231.3(POLE):c.4855T>C (p.Tyr1619His) rs1060500849
NM_006231.3(POLE):c.4856A>G (p.Tyr1619Cys) rs1593731043
NM_006231.3(POLE):c.4857_4858insA (p.Gly1620fs) rs1432073374
NM_006231.3(POLE):c.4872G>A (p.Trp1624Ter) rs754982151
NM_006231.3(POLE):c.4873C>G (p.Gln1625Glu) rs1064794648
NM_006231.3(POLE):c.4876C>T (p.Arg1626Cys) rs753713315
NM_006231.3(POLE):c.4877G>A (p.Arg1626His) rs766252708
NM_006231.3(POLE):c.4880A>C (p.His1627Pro) rs1274894982
NM_006231.3(POLE):c.4880A>G (p.His1627Arg) rs1274894982
NM_006231.3(POLE):c.4886C>T (p.Ala1629Val) rs1555222573
NM_006231.3(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.3(POLE):c.4889G>A (p.Arg1630Gln) rs750180239
NM_006231.3(POLE):c.4891C>T (p.Arg1631Cys) rs565413729
NM_006231.3(POLE):c.4892G>A (p.Arg1631His) rs775590365
NM_006231.3(POLE):c.4894A>G (p.Met1632Val) rs1565937490
NM_006231.3(POLE):c.4900C>T (p.Arg1634Cys) rs769762523
NM_006231.3(POLE):c.4900del (p.Arg1634fs) rs1555222567
NM_006231.3(POLE):c.4901G>A (p.Arg1634His) rs760149463
NM_006231.3(POLE):c.4907A>C (p.Tyr1636Ser) rs1555222562
NM_006231.3(POLE):c.4913A>G (p.Asn1638Ser) rs771399151
NM_006231.3(POLE):c.4913A>T (p.Asn1638Ile) rs771399151
NM_006231.3(POLE):c.4916T>C (p.Leu1639Pro) rs878854878
NM_006231.3(POLE):c.4917G>A (p.Leu1639=) rs1565937426
NM_006231.3(POLE):c.4924T>C (p.Cys1642Arg) rs1593730686
NM_006231.3(POLE):c.4927C>G (p.Leu1643Val) rs1418072475
NM_006231.3(POLE):c.4931C>T (p.Ser1644Leu) rs771896231
NM_006231.3(POLE):c.4934A>G (p.Gln1645Arg) rs878854879
NM_006231.3(POLE):c.4936G>C (p.Ala1646Pro) rs1555222550
NM_006231.3(POLE):c.4936G>T (p.Ala1646Ser) rs1555222550
NM_006231.3(POLE):c.4942G>A (p.Glu1648Lys) rs532781183
NM_006231.3(POLE):c.4948A>G (p.Ser1650Gly) rs1060500881
NM_006231.3(POLE):c.4949G>A (p.Ser1650Asn) rs1593730568
NM_006231.3(POLE):c.494A>C (p.Lys165Thr) rs1060500782
NM_006231.3(POLE):c.4952+4A>G rs962068207
NM_006231.3(POLE):c.4952+5G>A rs1555222548
NM_006231.3(POLE):c.4953-5T>G rs757060708
NM_006231.3(POLE):c.4959dup (p.His1654fs) rs1555222526
NM_006231.3(POLE):c.4963A>G (p.Ile1655Val) rs1060500876
NM_006231.3(POLE):c.4970T>C (p.Ile1657Thr) rs1060500827
NM_006231.3(POLE):c.4985A>C (p.Glu1662Ala) rs755176384
NM_006231.3(POLE):c.4987G>C (p.Asp1663His) rs753910068
NM_006231.3(POLE):c.4991T>C (p.Ile1664Thr) rs1593730003
NM_006231.3(POLE):c.4994C>T (p.Ser1665Phe) rs1565937052
NM_006231.3(POLE):c.49G>A (p.Gly17Ser) rs1243827536
NM_006231.3(POLE):c.5003G>T (p.Gly1668Val) rs368735471
NM_006231.3(POLE):c.5008G>A (p.Asp1670Asn) rs1060500823
NM_006231.3(POLE):c.5013C>A (p.Leu1671=) rs1260912213
NM_006231.3(POLE):c.5016_5018delCTT rs1555222501
NM_006231.3(POLE):c.5020G>A (p.Ala1674Thr) rs774729856
NM_006231.3(POLE):c.5023C>T (p.Arg1675Cys) rs1027297469
NM_006231.3(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028
NM_006231.3(POLE):c.5035C>T (p.Arg1679Cys) rs768244569
NM_006231.3(POLE):c.5036G>T (p.Arg1679Leu) rs748940418
NM_006231.3(POLE):c.5044C>T (p.His1682Tyr) rs774930613
NM_006231.3(POLE):c.5056C>G (p.Leu1686Val) rs1476020004
NM_006231.3(POLE):c.5060C>A (p.Ser1687Tyr) rs1565936909
NM_006231.3(POLE):c.5060C>T (p.Ser1687Phe) rs1565936909
NM_006231.3(POLE):c.5062C>T (p.Pro1688Ser) rs781114688
NM_006231.3(POLE):c.5068G>A (p.Ala1690Thr) rs757148947
NM_006231.3(POLE):c.5071C>T (p.Arg1691Cys) rs777599909
NM_006231.3(POLE):c.5081T>C (p.Leu1694Pro) rs1555222481
NM_006231.3(POLE):c.5084G>A (p.Gly1695Asp) rs920535000
NM_006231.3(POLE):c.5084G>T (p.Gly1695Val) rs920535000
NM_006231.3(POLE):c.508A>C (p.Ile170Leu) rs1331686551
NM_006231.3(POLE):c.5090A>G (p.Lys1697Arg) rs879254207
NM_006231.3(POLE):c.5093_5095delAGG rs1555222471
NM_006231.3(POLE):c.5095G>A (p.Ala1699Thr) rs1256635297
NM_006231.3(POLE):c.5102A>T (p.Asp1701Val) rs1565936830
NM_006231.3(POLE):c.5104A>G (p.Asn1702Asp) rs1431532125
NM_006231.3(POLE):c.5105A>G (p.Asn1702Ser) rs754086131
NM_006231.3(POLE):c.5108G>C (p.Cys1703Ser) rs961736994
NM_006231.3(POLE):c.5116A>T (p.Met1706Leu) rs1478959461
NM_006231.3(POLE):c.5118G>T (p.Met1706Ile) rs1593729440
NM_006231.3(POLE):c.5119dup (p.Glu1707fs) rs1555222457
NM_006231.3(POLE):c.5121G>T (p.Glu1707Asp) rs750460626
NM_006231.3(POLE):c.5125G>A (p.Asp1709Asn) rs572502366
NM_006231.3(POLE):c.5131C>A (p.Gln1711Lys) rs774619692
NM_006231.3(POLE):c.5140G>T (p.Val1714Phe) rs144941152
NM_006231.3(POLE):c.5143G>C (p.Glu1715Gln) rs1368719601
NM_006231.3(POLE):c.5149A>G (p.Asn1717Asp) rs1593729300
NM_006231.3(POLE):c.5150A>G (p.Asn1717Ser) rs1028428160
NM_006231.3(POLE):c.5151del (p.Asn1717fs) rs1565936691
NM_006231.3(POLE):c.5152A>G (p.Ser1718Gly) rs374381852
NM_006231.3(POLE):c.5153G>A (p.Ser1718Asn) rs1555222434
NM_006231.3(POLE):c.5168C>T (p.Ser1723Phe) rs996998835
NM_006231.3(POLE):c.5173+1G>T rs1060500866
NM_006231.3(POLE):c.5173+4A>G rs1565936629
NM_006231.3(POLE):c.5173+5del rs1593729172
NM_006231.3(POLE):c.5174-1G>T rs5744954
NM_006231.3(POLE):c.5174-2A>C rs1036643774
NM_006231.3(POLE):c.5174-3C>T rs878854881
NM_006231.3(POLE):c.5174T>C (p.Val1725Ala) rs1064796427
NM_006231.3(POLE):c.5176T>A (p.Cys1726Ser) rs1593728320
NM_006231.3(POLE):c.5180T>A (p.Val1727Glu) rs1384842148
NM_006231.3(POLE):c.5180_5181delTG rs1555222376
NM_006231.3(POLE):c.5189A>G (p.Asp1730Gly) rs1565936260
NM_006231.3(POLE):c.5206G>A (p.Val1736Ile) rs770181299
NM_006231.3(POLE):c.5210A>G (p.Asn1737Ser) rs1565936216
NM_006231.3(POLE):c.5215A>G (p.Ile1739Val) rs1064794641
NM_006231.3(POLE):c.5227C>T (p.His1743Tyr) rs1565936182
NM_006231.3(POLE):c.5229C>A (p.His1743Gln) rs1170880797
NM_006231.3(POLE):c.5233G>A (p.Val1745Ile) rs1593728098
NM_006231.3(POLE):c.5237A>G (p.Asn1746Ser) rs377461656
NM_006231.3(POLE):c.5237A>T (p.Asn1746Ile) rs377461656
NM_006231.3(POLE):c.5240A>G (p.Asp1747Gly) rs1555222355
NM_006231.3(POLE):c.5245G>T (p.Glu1749Ter) rs1593728038
NM_006231.3(POLE):c.524A>G (p.Lys175Arg) rs1555230082
NM_006231.3(POLE):c.5252C>T (p.Ala1751Val) rs1555222349
NM_006231.3(POLE):c.5260A>C (p.Met1754Leu) rs1402161985
NM_006231.3(POLE):c.5264G>A (p.Gly1755Glu) rs760235113
NM_006231.3(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.3(POLE):c.5266A>G (p.Ile1756Val) rs761812100
NM_006231.3(POLE):c.5267T>A (p.Ile1756Asn) rs199535980
NM_006231.3(POLE):c.5275G>A (p.Asp1759Asn) rs768559928
NM_006231.3(POLE):c.5275G>T (p.Asp1759Tyr) rs768559928
NM_006231.3(POLE):c.5278del (p.Asp1759_Val1760insTer) rs1565935966
NM_006231.3(POLE):c.5290G>A (p.Ala1764Thr) rs1315730296
NM_006231.3(POLE):c.5290G>C (p.Ala1764Pro) rs1315730296
NM_006231.3(POLE):c.5291C>T (p.Ala1764Val) rs1285538355
NM_006231.3(POLE):c.5293T>C (p.Ser1765Pro) rs771020584
NM_006231.3(POLE):c.52G>C (p.Glu18Gln) rs1555231403
NM_006231.3(POLE):c.52G>T (p.Glu18Ter) rs1555231403
NM_006231.3(POLE):c.5305A>G (p.Met1769Val) rs1449742140
NM_006231.3(POLE):c.5317G>A (p.Gly1773Ser) rs1565935798
NM_006231.3(POLE):c.5326G>T (p.Ala1776Ser) rs748644914
NM_006231.3(POLE):c.5327C>A (p.Ala1776Asp) rs779305242
NM_006231.3(POLE):c.5332G>A (p.Ala1778Thr) rs755346486
NM_006231.3(POLE):c.5335C>T (p.Pro1779Ser) rs1003504532
NM_006231.3(POLE):c.5336C>T (p.Pro1779Leu) rs766086682
NM_006231.3(POLE):c.5336del (p.Pro1779fs) rs1593727501
NM_006231.3(POLE):c.5339C>G (p.Ala1780Gly) rs1024088828
NM_006231.3(POLE):c.5341A>G (p.Ser1781Gly) rs1210128859
NM_006231.3(POLE):c.5342G>C (p.Ser1781Thr) rs1593727430
NM_006231.3(POLE):c.5345A>G (p.Tyr1782Cys) rs1365071731
NM_006231.3(POLE):c.5347G>A (p.Asp1783Asn) rs149893630
NM_006231.3(POLE):c.5347G>C (p.Asp1783His) rs149893630
NM_006231.3(POLE):c.5350G>A (p.Glu1784Lys) rs1555222266
NM_006231.3(POLE):c.5352G>C (p.Glu1784Asp) rs1555222265
NM_006231.3(POLE):c.5361del (p.Cys1788fs) rs752558475
NM_006231.3(POLE):c.5363G>A (p.Cys1788Tyr) rs1565935614
NM_006231.3(POLE):c.5367dup (p.Asn1790Ter) rs959133191
NM_006231.3(POLE):c.5378+1G>T rs747165215
NM_006231.3(POLE):c.5378+5C>T rs1171630569
NM_006231.3(POLE):c.5378+6A>G rs1380872711
NM_006231.3(POLE):c.5379-3C>A rs1415497701
NM_006231.3(POLE):c.5379-3C>G rs1415497701
NM_006231.3(POLE):c.5379-5T>C rs761910924
NM_006231.3(POLE):c.538C>T (p.Gln180Ter) rs1565979764
NM_006231.3(POLE):c.5390G>A (p.Ser1797Asn) rs749755939
NM_006231.3(POLE):c.5392A>G (p.Met1798Val) rs1555221940
NM_006231.3(POLE):c.5395G>A (p.Val1799Ile) rs780525568
NM_006231.3(POLE):c.5395G>T (p.Val1799Phe) rs780525568
NM_006231.3(POLE):c.5401G>T (p.Gly1801Cys) rs1447287662
NM_006231.3(POLE):c.5402G>A (p.Gly1801Asp) rs1060500803
NM_006231.3(POLE):c.5407G>A (p.Val1803Met) rs1555221935
NM_006231.3(POLE):c.5420C>G (p.Thr1807Ser) rs1565933242
NM_006231.3(POLE):c.5420C>T (p.Thr1807Ile) rs1565933242
NM_006231.3(POLE):c.5422C>G (p.Gln1808Glu) rs1167794021
NM_006231.3(POLE):c.5423A>G (p.Gln1808Arg) rs1060500811
NM_006231.3(POLE):c.5423del (p.Gln1808fs) rs1565933220
NM_006231.3(POLE):c.5424G>C (p.Gln1808His) rs1555221929
NM_006231.3(POLE):c.542A>T (p.Asp181Val) rs1555230076
NM_006231.3(POLE):c.5432A>G (p.Asn1811Ser) rs1565933181
NM_006231.3(POLE):c.5434A>G (p.Ile1812Val) rs1593722018
NM_006231.3(POLE):c.5438A>G (p.Tyr1813Cys) rs752559134
NM_006231.3(POLE):c.5438A>T (p.Tyr1813Phe) rs752559134
NM_006231.3(POLE):c.5464_5466dup (p.Tyr1822dup) rs773960177
NM_006231.3(POLE):c.5467C>T (p.Arg1823Cys) rs753627422
NM_006231.3(POLE):c.5468G>A (p.Arg1823His) rs767747669
NM_006231.3(POLE):c.5468G>C (p.Arg1823Pro) rs767747669
NM_006231.3(POLE):c.5476C>T (p.Arg1826Trp) rs762000608
NM_006231.3(POLE):c.5477G>A (p.Arg1826Gln) rs1555221919
NM_006231.3(POLE):c.547G>A (p.Ala183Thr) rs993340577
NM_006231.3(POLE):c.5480C>T (p.Ser1827Leu) rs763031537
NM_006231.3(POLE):c.5484del (p.Ser1829fs) rs1555221914
NM_006231.3(POLE):c.5487_5488CT[2] (p.Leu1831fs) rs878854883
NM_006231.3(POLE):c.5492T>C (p.Leu1831Pro) rs781674901
NM_006231.3(POLE):c.5494C>T (p.Leu1832Phe) rs1456049352
NM_006231.3(POLE):c.5498A>G (p.His1833Arg) rs1296239115
NM_006231.3(POLE):c.54G>C (p.Glu18Asp) rs1311350422
NM_006231.3(POLE):c.5507C>T (p.Ala1836Val) rs780776704
NM_006231.3(POLE):c.550A>C (p.Ser184Arg) rs1060500790
NM_006231.3(POLE):c.5515C>T (p.Arg1839Cys) rs141519273
NM_006231.3(POLE):c.5516G>A (p.Arg1839His) rs370512955
NM_006231.3(POLE):c.5525A>G (p.His1842Arg) rs1060500795
NM_006231.3(POLE):c.5527A>C (p.Asn1843His) rs1593721661
NM_006231.3(POLE):c.5528A>G (p.Asn1843Ser) rs753680242
NM_006231.3(POLE):c.5528_5530del rs868246375
NM_006231.3(POLE):c.5539A>C (p.Lys1847Gln) rs757533247
NM_006231.3(POLE):c.5539_5541delAAG rs1060500844
NM_006231.3(POLE):c.553G>A (p.Asp185Asn) rs369506007
NM_006231.3(POLE):c.5549T>A (p.Leu1850Gln) rs1565932919
NM_006231.3(POLE):c.5552+1G>T rs1555221894
NM_006231.3(POLE):c.5553-12C>G rs766922669
NM_006231.3(POLE):c.5553-1G>A rs1064796152
NM_006231.3(POLE):c.5558T>C (p.Ile1853Thr) rs1057519257
NM_006231.3(POLE):c.5560G>A (p.Ala1854Thr) rs557167678
NM_006231.3(POLE):c.5560G>T (p.Ala1854Ser) rs557167678
NM_006231.3(POLE):c.5566T>C (p.Phe1856Leu) rs1060500846
NM_006231.3(POLE):c.5569A>G (p.Lys1857Glu) rs773659817
NM_006231.3(POLE):c.556G>A (p.Ala186Thr) rs375213599
NM_006231.3(POLE):c.5570A>T (p.Lys1857Met) rs5744971
NM_006231.3(POLE):c.5572C>T (p.Arg1858Cys) rs1193081581
NM_006231.3(POLE):c.5578G>C (p.Gly1860Arg) rs144343630
NM_006231.3(POLE):c.557C>T (p.Ala186Val) rs151325267
NM_006231.3(POLE):c.5596G>A (p.Ala1866Thr) rs377662540
NM_006231.3(POLE):c.5607C>T (p.Asn1869=) rs1565932038
NM_006231.3(POLE):c.5608C>T (p.Arg1870Cys) rs138231414
NM_006231.3(POLE):c.5609G>A (p.Arg1870His) rs758619238
NM_006231.3(POLE):c.5611A>G (p.Ile1871Val) rs752955761
NM_006231.3(POLE):c.5617C>A (p.Leu1873Ile) rs1593719698
NM_006231.3(POLE):c.5632C>G (p.Arg1878Gly) rs199979862
NM_006231.3(POLE):c.5632C>T (p.Arg1878Cys) rs199979862
NM_006231.3(POLE):c.5633G>A (p.Arg1878His) rs374022997
NM_006231.3(POLE):c.5635C>T (p.Arg1879Cys) rs767012802
NM_006231.3(POLE):c.5636G>C (p.Arg1879Pro) rs145621558
NM_006231.3(POLE):c.5638G>T (p.Val1880Leu) rs1593719616
NM_006231.3(POLE):c.5639T>C (p.Val1880Ala) rs1593719608
NM_006231.3(POLE):c.563C>T (p.Thr188Ile) rs1565979672
NM_006231.3(POLE):c.5653G>A (p.Ala1885Thr) rs748008084
NM_006231.3(POLE):c.5653G>T (p.Ala1885Ser) rs748008084
NM_006231.3(POLE):c.5658C>A (p.Tyr1886Ter) rs369346799
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.565G>C (p.Ala189Pro) rs1555230056
NM_006231.3(POLE):c.5662G>A (p.Glu1888Lys) rs368363850
NM_006231.3(POLE):c.5668A>G (p.Ile1890Val) rs745804149
NM_006231.3(POLE):c.566C>G (p.Ala189Gly) rs1593084934
NM_006231.3(POLE):c.5670C>G (p.Ile1890Met) rs1037020157
NM_006231.3(POLE):c.5672_5674del (p.Thr1891del) rs769630098
NM_006231.3(POLE):c.5678+1G>A rs138748289
NM_006231.3(POLE):c.5678+3G>A rs1060500826
NM_006231.3(POLE):c.5678+5G>A rs779223088
NM_006231.3(POLE):c.5678+6G>A rs551185075
NM_006231.3(POLE):c.5678+6G>C rs551185075
NM_006231.3(POLE):c.5678+6G>T rs551185075
NM_006231.3(POLE):c.5679-3C>T rs1555221512
NM_006231.3(POLE):c.5691G>C (p.Lys1897Asn) rs944517039
NM_006231.3(POLE):c.5694G>T (p.Glu1898Asp) rs1555221506
NM_006231.3(POLE):c.569T>C (p.Leu190Pro) rs1565979656
NM_006231.3(POLE):c.5703T>A (p.His1901Gln) rs764439900
NM_006231.3(POLE):c.5725C>T (p.Arg1909Ter) rs1380204151
NM_006231.3(POLE):c.5726G>A (p.Arg1909Gln) rs201455049
NM_006231.3(POLE):c.5730C>G (p.Cys1910Trp) rs549163600
NM_006231.3(POLE):c.5742_5744delTCT rs1565930056
NM_006231.3(POLE):c.5744T>C (p.Leu1915Pro) rs1593715436
NM_006231.3(POLE):c.574T>C (p.Ser192Pro) rs1555230047
NM_006231.3(POLE):c.5756C>T (p.Pro1919Leu) rs1235640927
NM_006231.3(POLE):c.5758T>C (p.Ser1920Pro) rs1565930031
NM_006231.3(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.3(POLE):c.5763C>G (p.Asn1921Lys) rs113976595
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.5770G>A (p.Gly1924Arg) rs371862779
NM_006231.3(POLE):c.5777A>G (p.Lys1926Arg) rs757847276
NM_006231.3(POLE):c.577A>G (p.Ser193Gly) rs760588718
NM_006231.3(POLE):c.578+1G>A rs1565979631
NM_006231.3(POLE):c.5783_5784del (p.Lys1928fs) rs1593715351
NM_006231.3(POLE):c.5792C>G (p.Ser1931Cys) rs879254232
NM_006231.3(POLE):c.5792C>T (p.Ser1931Phe) rs879254232
NM_006231.3(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.3(POLE):c.5795G>A (p.Arg1932His) rs778190944
NM_006231.3(POLE):c.5797A>G (p.Ile1933Val) rs758762868
NM_006231.3(POLE):c.5809C>G (p.Leu1937Val) rs1555221482
NM_006231.3(POLE):c.5811+3_5811+4dup rs1565929922
NM_006231.3(POLE):c.5811+5G>A rs562946055
NM_006231.3(POLE):c.5811+6C>T rs753430384
NM_006231.3(POLE):c.5811G>A (p.Leu1937=) rs368174082
NM_006231.3(POLE):c.5812-4A>G rs377036606
NM_006231.3(POLE):c.5813A>C (p.Gln1938Pro) rs1593712524
NM_006231.3(POLE):c.5829_5830del (p.Gly1945fs) rs878854885
NM_006231.3(POLE):c.5834G>A (p.Gly1945Glu) rs773257929
NM_006231.3(POLE):c.5836G>A (p.Ala1946Thr) rs772611021
NM_006231.3(POLE):c.5839G>A (p.Glu1947Lys) rs1382652919
NM_006231.3(POLE):c.5840_5841delAG rs1565928712
NM_006231.3(POLE):c.5843A>G (p.Asp1948Gly) rs372504703
NM_006231.3(POLE):c.5845G>A (p.Glu1949Lys) rs779394509
NM_006231.3(POLE):c.5848_5868dup (p.Gln1950_Glu1956dup) rs1302016488
NM_006231.3(POLE):c.5851G>A (p.Glu1951Lys) rs768917089
NM_006231.3(POLE):c.5860_5861delinsTT (p.Asp1954Phe) rs1555221216
NM_006231.3(POLE):c.5863G>A (p.Asp1955Asn) rs755805420
NM_006231.3(POLE):c.5863G>T (p.Asp1955Tyr) rs755805420
NM_006231.3(POLE):c.5865_5885dup (p.Asp1955_Gly1961dup) rs1593712270
NM_006231.3(POLE):c.5866G>A (p.Glu1956Lys) rs749992643
NM_006231.3(POLE):c.5869G>C (p.Glu1957Gln) rs1593712311
NM_006231.3(POLE):c.5878G>T (p.Asp1960Tyr) rs1565928596
NM_006231.3(POLE):c.587A>G (p.Gln196Arg) rs770126315
NM_006231.3(POLE):c.5883_5885GGA[3] (p.Glu1966del) rs757774039
NM_006231.3(POLE):c.5888_5914dup (p.Glu1963_Asn1971dup) rs778066364
NM_006231.3(POLE):c.5889_5894delGGAGGA rs757774039
NM_006231.3(POLE):c.588G>T (p.Gln196His) rs878854886
NM_006231.3(POLE):c.58A>C (p.Ser20Arg) rs1405389237
NM_006231.3(POLE):c.58A>G (p.Ser20Gly) rs1405389237
NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) rs201273415
NM_006231.3(POLE):c.5901_5903GGA[3] (p.Glu1969dup) rs754275919
NM_006231.3(POLE):c.5907A>C (p.Glu1969Asp) rs1060504069
NM_006231.3(POLE):c.5909C>T (p.Ser1970Phe) rs1593712166
NM_006231.3(POLE):c.590G>C (p.Arg197Thr) rs528361482
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.5912_5913insAGTGGAGGAATCCAA (p.Asn1971_Val1972insLysValGluGluSer) rs878854887
NM_006231.3(POLE):c.5914G>A (p.Val1972Met) rs774726229
NM_006231.3(POLE):c.5920G>T (p.Asp1974Tyr) rs1555221203
NM_006231.3(POLE):c.5926C>A (p.Leu1976Met) rs1555221202
NM_006231.3(POLE):c.5926_5929delinsA (p.Leu1976_Glu1977delinsLys) rs1565928471
NM_006231.3(POLE):c.592G>A (p.Gly198Ser) rs1565978171
NM_006231.3(POLE):c.5932_5942del (p.Asn1978fs) rs1555221197
NM_006231.3(POLE):c.5936A>C (p.Asn1979Thr) rs775893052
NM_006231.3(POLE):c.5936A>G (p.Asn1979Ser) rs775893052
NM_006231.3(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579
NM_006231.3(POLE):c.5941A>G (p.Asn1981Asp) rs888148550
NM_006231.3(POLE):c.5942A>G (p.Asn1981Ser) rs1565928438
NM_006231.3(POLE):c.5957T>C (p.Leu1986Ser) rs1593711943
NM_006231.3(POLE):c.595G>A (p.Gly199Ser) rs776540681
NM_006231.3(POLE):c.5965del (p.Ala1989fs) rs1555221193
NM_006231.3(POLE):c.5966C>G (p.Ala1989Gly) rs745501021
NM_006231.3(POLE):c.5968G>C (p.Ala1990Pro) rs1313175914
NM_006231.3(POLE):c.596G>T (p.Gly199Val) rs1593082154
NM_006231.3(POLE):c.5972C>G (p.Ser1991Cys) rs1593711899
NM_006231.3(POLE):c.5975G>T (p.Cys1992Phe) rs1593711885
NM_006231.3(POLE):c.5989C>T (p.Leu1997Phe) rs1593711868
NM_006231.3(POLE):c.5C>T (p.Ser2Phe) rs1060500890
NM_006231.3(POLE):c.6002C>G (p.Ser2001Ter) rs1565928374
NM_006231.3(POLE):c.6005-3C>T rs1555221015
NM_006231.3(POLE):c.6005C>T (p.Ala2002Val) rs1247397969
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.6013G>A (p.Val2005Met) rs1060500812
NM_006231.3(POLE):c.6013G>T (p.Val2005Leu) rs1060500812
NM_006231.3(POLE):c.6017C>T (p.Ala2006Val) rs746545942
NM_006231.3(POLE):c.6019G>A (p.Val2007Met) rs748106601
NM_006231.3(POLE):c.6019G>C (p.Val2007Leu) rs748106601
NM_006231.3(POLE):c.6026A>G (p.His2009Arg) rs1593709210
NM_006231.3(POLE):c.6026del (p.His2009fs) rs1565927314
NM_006231.3(POLE):c.6029G>A (p.Cys2010Tyr) rs1471000462
NM_006231.3(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.3(POLE):c.6030C>T (p.Cys2010=) rs1555220994
NM_006231.3(POLE):c.6033G>A (p.Met2011Ile) rs754773239
NM_006231.3(POLE):c.6040G>A (p.Gly2014Arg) rs767749736
NM_006231.3(POLE):c.6040G>T (p.Gly2014Trp) rs767749736
NM_006231.3(POLE):c.6041G>A (p.Gly2014Glu) rs757480645
NM_006231.3(POLE):c.6049C>T (p.Arg2017Cys) rs115452769
NM_006231.3(POLE):c.604A>G (p.Thr202Ala) rs1593082130
NM_006231.3(POLE):c.6050G>A (p.Arg2017His) rs144178150
NM_006231.3(POLE):c.6053G>A (p.Ser2018Asn) rs140344645
NM_006231.3(POLE):c.605_606delinsTC (p.Thr202Ile) rs1593082121
NM_006231.3(POLE):c.6065G>A (p.Ser2022Asn) rs905858506
NM_006231.3(POLE):c.6067A>G (p.Thr2023Ala) rs1385486279
NM_006231.3(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.3(POLE):c.6068C>T (p.Thr2023Ile) rs771628123
NM_006231.3(POLE):c.6072del (p.Pro2024_Val2025insTer) rs754630848
NM_006231.3(POLE):c.6073G>A (p.Val2025Met) rs995579204
NM_006231.3(POLE):c.6082A>G (p.Arg2028Gly) rs1593708941
NM_006231.3(POLE):c.6083G>C (p.Arg2028Thr) rs749132017
NM_006231.3(POLE):c.6086G>A (p.Gly2029Glu) rs879254239
NM_006231.3(POLE):c.6088del (p.Ala2030fs) rs1060500809
NM_006231.3(POLE):c.6089_6090delinsG (p.Ala2030fs) rs1555220965
NM_006231.3(POLE):c.6097C>G (p.Leu2033Val) rs779820079
NM_006231.3(POLE):c.6100_6101dup rs1593708851
NM_006231.3(POLE):c.6101C>T (p.Ser2034Phe) rs1060500834
NM_006231.3(POLE):c.6103C>T (p.Gln2035Ter) rs757478410
NM_006231.3(POLE):c.6106G>A (p.Glu2036Lys) rs1565927123
NM_006231.3(POLE):c.6107A>G (p.Glu2036Gly) rs751818136
NM_006231.3(POLE):c.6107A>T (p.Glu2036Val) rs751818136
NM_006231.3(POLE):c.6112G>A (p.Glu2038Lys) rs181570274
NM_006231.3(POLE):c.6116G>A (p.Gly2039Glu) rs1555220961
NM_006231.3(POLE):c.6119C>T (p.Ala2040Val) rs5745021
NM_006231.3(POLE):c.6124G>A (p.Gly2042Arg) rs147954675
NM_006231.3(POLE):c.6130C>T (p.Leu2044Phe) rs1060500801
NM_006231.3(POLE):c.6133C>G (p.Pro2045Ala) rs910631094
NM_006231.3(POLE):c.6134C>G (p.Pro2045Arg) rs1555220951
NM_006231.3(POLE):c.6136+1G>T rs1593708662
NM_006231.3(POLE):c.6136+5G>A rs1555220949
NM_006231.3(POLE):c.6136+6C>T rs1593708643
NM_006231.3(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.3(POLE):c.6140T>G (p.Met2047Arg) rs1060500829
NM_006231.3(POLE):c.6145A>G (p.Thr2049Ala) rs1593708241
NM_006231.3(POLE):c.6146C>A (p.Thr2049Asn) rs1315503524
NM_006231.3(POLE):c.6148T>C (p.Phe2050Leu) rs1593708231
NM_006231.3(POLE):c.6156G>A (p.Gln2052=) rs149841283
NM_006231.3(POLE):c.6161A>C (p.Tyr2054Ser) rs1593708209
NM_006231.3(POLE):c.6166G>A (p.Ala2056Thr) rs58916399
NM_006231.3(POLE):c.6166G>T (p.Ala2056Ser) rs58916399
NM_006231.3(POLE):c.6173A>G (p.Glu2058Gly) rs908335718
NM_006231.3(POLE):c.6179C>A (p.Thr2060Asn) rs761423995
NM_006231.3(POLE):c.6179C>G (p.Thr2060Ser) rs761423995
NM_006231.3(POLE):c.6188T>G (p.Phe2063Cys) rs1410600023
NM_006231.3(POLE):c.62+1G>C rs1565986506
NM_006231.3(POLE):c.62+3G>A rs1162592571
NM_006231.3(POLE):c.62+5G>A rs1037695225
NM_006231.3(POLE):c.62+6G>A rs1060500861
NM_006231.3(POLE):c.6205A>G (p.Lys2069Glu) rs1555220903
NM_006231.3(POLE):c.6207G>T (p.Lys2069Asn) rs1593708047
NM_006231.3(POLE):c.6208A>G (p.Ile2070Val) rs763607284
NM_006231.3(POLE):c.620C>G (p.Thr207Ser) rs748503586
NM_006231.3(POLE):c.6223A>G (p.Thr2075Ala) rs1326812680
NM_006231.3(POLE):c.6224C>T (p.Thr2075Ile) rs952583197
NM_006231.3(POLE):c.6232C>T (p.Arg2078Trp) rs1060500867
NM_006231.3(POLE):c.6233G>A (p.Arg2078Gln) rs745721448
NM_006231.3(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.3(POLE):c.6244G>A (p.Glu2082Lys) rs1285938402
NM_006231.3(POLE):c.6244_6248del (p.Glu2082fs) rs1555220891
NM_006231.3(POLE):c.6247C>T (p.Leu2083Phe) rs1022668614
NM_006231.3(POLE):c.6258G>A (p.Met2086Ile) rs1565926679
NM_006231.3(POLE):c.625A>C (p.Lys209Gln) rs1555229720
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.3(POLE):c.6272C>T (p.Pro2091Leu) rs376093362
NM_006231.3(POLE):c.6273_6280del (p.Gly2092fs) rs1593707749
NM_006231.3(POLE):c.6274G>A (p.Gly2092Ser) rs757559474
NM_006231.3(POLE):c.6278C>T (p.Ser2093Phe) rs890951073
NM_006231.3(POLE):c.6280C>G (p.His2094Asp) rs1593707742
NM_006231.3(POLE):c.6286C>G (p.Leu2096Val) rs1049603207
NM_006231.3(POLE):c.6287T>G (p.Leu2096Arg) rs754604458
NM_006231.3(POLE):c.6290T>C (p.Leu2097Pro) rs932532496
NM_006231.3(POLE):c.6298C>G (p.Pro2100Ala) rs562071800
NM_006231.3(POLE):c.6299C>G (p.Pro2100Arg) rs1060500780
NM_006231.3(POLE):c.629A>G (p.Lys210Arg) rs765826619
NM_006231.3(POLE):c.63-?_1794+?dup1732
NM_006231.3(POLE):c.6301G>A (p.Ala2101Thr) rs1395533975
NM_006231.3(POLE):c.6301G>T (p.Ala2101Ser) rs1395533975
NM_006231.3(POLE):c.6308A>C (p.Glu2103Ala) rs1555220870
NM_006231.3(POLE):c.6312C>A (p.Phe2104Leu) rs1555220869
NM_006231.3(POLE):c.6312C>G (p.Phe2104Leu) rs1555220869
NM_006231.3(POLE):c.6313A>G (p.Ile2105Val) rs1555220868
NM_006231.3(POLE):c.6315C>G (p.Ile2105Met) rs763695065
NM_006231.3(POLE):c.6317A>G (p.Lys2106Arg) rs762471347
NM_006231.3(POLE):c.631A>T (p.Ile211Leu) rs1064796126
NM_006231.3(POLE):c.6322G>A (p.Val2108Met) rs776551240
NM_006231.3(POLE):c.6322G>T (p.Val2108Leu) rs776551240
NM_006231.3(POLE):c.6327C>T (p.Cys2109=) rs371146029
NM_006231.3(POLE):c.6328A>C (p.Lys2110Gln) rs746736600
NM_006231.3(POLE):c.6328A>G (p.Lys2110Glu) rs746736600
NM_006231.3(POLE):c.632T>C (p.Ile211Thr) rs1555229716
NM_006231.3(POLE):c.6330+1G>A rs768952241
NM_006231.3(POLE):c.6331-3C>T rs1332510248
NM_006231.3(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.3(POLE):c.6335T>C (p.Leu2112Pro) rs1429053091
NM_006231.3(POLE):c.6344A>G (p.Asp2115Gly) rs1555301272
NM_006231.3(POLE):c.6346A>C (p.Thr2116Pro) rs1035102321
NM_006231.3(POLE):c.6349A>G (p.Asn2117Asp) rs1555301269
NM_006231.3(POLE):c.6350A>G (p.Asn2117Ser) rs771404261
NM_006231.3(POLE):c.6361C>G (p.Gln2121Glu) rs1555301259
NM_006231.3(POLE):c.6372G>T (p.Lys2124Asn) rs1555301255
NM_006231.3(POLE):c.6379C>G (p.Arg2127Gly) rs1057517583
NM_006231.3(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.3(POLE):c.6380G>A (p.Arg2127Gln) rs199613242
NM_006231.3(POLE):c.6382G>T (p.Asp2128Tyr) rs778102693
NM_006231.3(POLE):c.6384C>A (p.Asp2128Glu) rs758101414
NM_006231.3(POLE):c.6391C>T (p.Arg2131Cys) rs369748519
NM_006231.3(POLE):c.6392G>T (p.Arg2131Leu) rs141954509
NM_006231.3(POLE):c.6403G>T (p.Val2135Phe) rs878854891
NM_006231.3(POLE):c.6406G>A (p.Gly2136Ser) rs1368640639
NM_006231.3(POLE):c.6408C>T (p.Gly2136=) rs1057524549
NM_006231.3(POLE):c.6409G>A (p.Glu2137Lys) rs879783561
NM_006231.3(POLE):c.6411G>T (p.Glu2137Asp) rs753344188
NM_006231.3(POLE):c.6414C>G (p.Phe2138Leu) rs969557653
NM_006231.3(POLE):c.6418del (p.Glu2140fs) rs1064794703
NM_006231.3(POLE):c.641A>G (p.Gln214Arg) rs1555229713
NM_006231.3(POLE):c.6422_6423delinsCC (p.Glu2141Ala) rs878854892
NM_006231.3(POLE):c.6424G>A (p.Ala2142Thr) rs1593697633
NM_006231.3(POLE):c.6427C>A (p.Gln2143Lys) rs1566309175
NM_006231.3(POLE):c.6428A>G (p.Gln2143Arg) rs761600734
NM_006231.3(POLE):c.6434G>A (p.Arg2145Gln) rs770009143
NM_006231.3(POLE):c.6434_6438del (p.Arg2145fs) rs1555301223
NM_006231.3(POLE):c.6439C>G (p.Pro2147Ala) rs776658476
NM_006231.3(POLE):c.6440C>T (p.Pro2147Leu) rs1555301218
NM_006231.3(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.3(POLE):c.6446G>T (p.Arg2149Leu) rs201165149
NM_006231.3(POLE):c.6448T>C (p.Ser2150Pro) rs1593697516
NM_006231.3(POLE):c.6449C>A (p.Ser2150Tyr) rs1593697508
NM_006231.3(POLE):c.6451T>A (p.Tyr2151Asn) rs1004476069
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6454G>A (p.Val2152Met) rs138789360
NM_006231.3(POLE):c.6454G>T (p.Val2152Leu) rs138789360
NM_006231.3(POLE):c.6457del (p.Leu2153fs) rs1064794611
NM_006231.3(POLE):c.6460C>T (p.Pro2154Ser) rs778456846
NM_006231.3(POLE):c.6466G>A (p.Val2156Ile) rs542978638
NM_006231.3(POLE):c.6470T>C (p.Ile2157Thr) rs1566309064
NM_006231.3(POLE):c.6476G>A (p.Arg2159His) rs373092830
NM_006231.3(POLE):c.6489C>G (p.Phe2163Leu) rs1566309041
NM_006231.3(POLE):c.6491G>A (p.Cys2164Tyr) rs750401329
NM_006231.3(POLE):c.6493C>T (p.Arg2165Cys) rs369549727
NM_006231.3(POLE):c.6496G>A (p.Asp2166Asn) rs759795841
NM_006231.3(POLE):c.6498C>A (p.Asp2166Glu) rs946547049
NM_006231.3(POLE):c.6508T>C (p.Cys2170Arg) rs138094751
NM_006231.3(POLE):c.6511A>G (p.Lys2171Glu) rs760678210
NM_006231.3(POLE):c.6518C>T (p.Ser2173Phe) rs1555301181
NM_006231.3(POLE):c.6521C>T (p.Ser2174Phe) rs1555301177
NM_006231.3(POLE):c.652A>G (p.Ile218Val) rs1319446692
NM_006231.3(POLE):c.6531+4C>T rs772586175
NM_006231.3(POLE):c.6531+5G>A rs368538240
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6536_6537delinsCT (p.Gly2179Ala) rs1060500789
NM_006231.3(POLE):c.6537_6541del (p.Ala2180fs) rs879254107
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.6547C>T (p.Pro2183Ser) rs777503236
NM_006231.3(POLE):c.6551A>G (p.Gln2184Arg) rs878854894
NM_006231.3(POLE):c.6553T>C (p.Trp2185Arg) rs752443512
NM_006231.3(POLE):c.6555G>T (p.Trp2185Cys) rs1593696504
NM_006231.3(POLE):c.6563C>G (p.Ser2188Cys) rs780307061
NM_006231.3(POLE):c.6563C>T (p.Ser2188Phe) rs780307061
NM_006231.3(POLE):c.6565A>T (p.Asn2189Tyr) rs150345709
NM_006231.3(POLE):c.6575C>T (p.Ala2192Val) rs756301031
NM_006231.3(POLE):c.6581A>T (p.Tyr2194Phe) rs1060500872
NM_006231.3(POLE):c.6583G>A (p.Asp2195Asn) rs1472336573
NM_006231.3(POLE):c.6585_6587CTC[1] (p.Ser2197del) rs1188033351
NM_006231.3(POLE):c.658G>A (p.Asp220Asn) rs1060500824
NM_006231.3(POLE):c.6590C>T (p.Ser2197Phe) rs1489412079
NM_006231.3(POLE):c.6593C>A (p.Ala2198Asp) rs1555301083
NM_006231.3(POLE):c.6597C>A (p.Ile2199=) rs147611144
NM_006231.3(POLE):c.6598G>A (p.Glu2200Lys) rs752113614
NM_006231.3(POLE):c.65A>T (p.Asp22Val) rs1060500864
NM_006231.3(POLE):c.6601A>G (p.Met2201Val) rs878854895
NM_006231.3(POLE):c.6605C>T (p.Thr2202Met) rs764457707
NM_006231.3(POLE):c.6610G>A (p.Val2204Met) rs1060500871
NM_006231.3(POLE):c.6610G>T (p.Val2204Leu) rs1060500871
NM_006231.3(POLE):c.6613G>A (p.Glu2205Lys) rs1593696346
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.3(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545
NM_006231.3(POLE):c.662T>C (p.Met221Thr) rs755607944
NM_006231.3(POLE):c.6632T>C (p.Leu2211Pro) rs1060500848
NM_006231.3(POLE):c.663G>T (p.Met221Ile) rs750387204
NM_006231.3(POLE):c.663dup (p.Arg222fs) rs1555229694
NM_006231.3(POLE):c.664C>A (p.Arg222Ser) rs767503360
NM_006231.3(POLE):c.664C>G (p.Arg222Gly) rs767503360
NM_006231.3(POLE):c.664C>T (p.Arg222Cys) rs767503360
NM_006231.3(POLE):c.6651G>A (p.Gln2217=) rs1593696233
NM_006231.3(POLE):c.6651_6657+6delinsTGC rs1566308356
NM_006231.3(POLE):c.6655C>G (p.Leu2219Val) rs1347301977
NM_006231.3(POLE):c.6658-1G>A rs1555300846
NM_006231.3(POLE):c.6658-2A>G rs751217859
NM_006231.3(POLE):c.6658G>A (p.Val2220Ile) rs1060500804
NM_006231.3(POLE):c.6658G>T (p.Val2220Phe) rs1060500804
NM_006231.3(POLE):c.665G>A (p.Arg222His) rs1060500862
NM_006231.3(POLE):c.6664C>G (p.Leu2222Val) rs1160915539
NM_006231.3(POLE):c.6665T>C (p.Leu2222Pro) rs1566307264
NM_006231.3(POLE):c.666C>T (p.Arg222=) rs1357052511
NM_006231.3(POLE):c.6673C>T (p.Arg2225Cys) rs765125852
NM_006231.3(POLE):c.6676G>A (p.Gly2226Arg) rs766291093
NM_006231.3(POLE):c.6679G>T (p.Val2227Leu) rs1060500843
NM_006231.3(POLE):c.667G>A (p.Glu223Lys) rs761757009
NM_006231.3(POLE):c.667_693del (p.Glu223_Arg231del) rs1272503308
NM_006231.3(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.3(POLE):c.6694A>G (p.Met2232Val) rs546982080
NM_006231.3(POLE):c.6707G>C (p.Cys2236Ser) rs1593694136
NM_006231.3(POLE):c.6713G>A (p.Cys2238Tyr) rs1555300810
NM_006231.3(POLE):c.6714C>G (p.Cys2238Trp) rs200082120
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6727G>A (p.Ala2243Thr) rs747349009
NM_006231.3(POLE):c.6734C>G (p.Thr2245Ser) rs747676884
NM_006231.3(POLE):c.673G>A (p.Asp225Asn) rs1166189035
NM_006231.3(POLE):c.6747+2T>G rs1566307058
NM_006231.3(POLE):c.6747+4G>C rs1257771767
NM_006231.3(POLE):c.6748G>C (p.Val2250Leu) rs756931710
NM_006231.3(POLE):c.6754A>G (p.Met2252Val) rs759660507
NM_006231.3(POLE):c.6757G>A (p.Glu2253Lys) rs376140352
NM_006231.3(POLE):c.6757G>C (p.Glu2253Gln) rs376140352
NM_006231.3(POLE):c.6761A>C (p.Gln2254Pro) rs1555300757
NM_006231.3(POLE):c.6762G>T (p.Gln2254His) rs1593693607
NM_006231.3(POLE):c.6763A>G (p.Ile2255Val) rs73155056
NM_006231.3(POLE):c.6765C>G (p.Ile2255Met) rs376336585
NM_006231.3(POLE):c.6767G>C (p.Gly2256Ala) rs749707316
NM_006231.3(POLE):c.6769A>C (p.Ile2257Leu) rs1566306858
NM_006231.3(POLE):c.6775C>T (p.Arg2259Trp) rs866548835
NM_006231.3(POLE):c.6776G>A (p.Arg2259Gln) rs762044635
NM_006231.3(POLE):c.6777G>C (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6787C>T (p.Gln2263Ter) rs1060500830
NM_006231.3(POLE):c.6790C>A (p.His2264Asn) rs1555300733
NM_006231.3(POLE):c.6792C>G (p.His2264Gln) rs1396625189
NM_006231.3(POLE):c.6796G>A (p.Gly2266Ser) rs200911338
NM_006231.3(POLE):c.6801G>C (p.Met2267Ile) rs1555300726
NM_006231.3(POLE):c.6803C>T (p.Ser2268Leu) rs373791036
NM_006231.3(POLE):c.680C>T (p.Pro227Leu) rs1060500784
NM_006231.3(POLE):c.6818C>T (p.Thr2273Ile) rs779145729
NM_006231.3(POLE):c.6835C>T (p.Gln2279Ter) rs1555300713
NM_006231.3(POLE):c.683A>G (p.Tyr228Cys) rs1555229669
NM_006231.3(POLE):c.6842A>C (p.Asn2281Thr) rs1593693355
NM_006231.3(POLE):c.6844C>A (p.Pro2282Thr) rs760606145
NM_006231.3(POLE):c.6845C>T (p.Pro2282Leu) rs1555300711
NM_006231.3(POLE):c.6847C>G (p.Gln2283Glu) rs1267521228
NM_006231.3(POLE):c.6847C>T (p.Gln2283Ter) rs1267521228
NM_006231.3(POLE):c.6850C>A (p.Leu2284Met) rs1566306728
NM_006231.3(POLE):c.6851T>A (p.Leu2284Gln) rs1555300706
NM_006231.3(POLE):c.6853G>T (p.Gly2285Cys) rs1245794040
NM_006231.3(POLE):c.6854G>A (p.Gly2285Asp) rs1060500879
NM_006231.3(POLE):c.688A>G (p.Ile230Val) rs1555229662
NM_006231.3(POLE):c.689T>G (p.Ile230Ser) rs1401947646
NM_006231.3(POLE):c.68A>G (p.Asp23Gly) rs765898876
NM_006231.3(POLE):c.691C>T (p.Arg231Cys) rs146592584
NM_006231.3(POLE):c.692G>A (p.Arg231His) rs1060500835
NM_006231.3(POLE):c.692G>T (p.Arg231Leu) rs1060500835
NM_006231.3(POLE):c.695T>C (p.Leu232Pro) rs748554882
NM_006231.3(POLE):c.706C>G (p.Leu236Val) rs553397628
NM_006231.3(POLE):c.710A>C (p.Lys237Thr) rs879762286
NM_006231.3(POLE):c.710A>G (p.Lys237Arg) rs879762286
NM_006231.3(POLE):c.712A>T (p.Ile238Phe) rs536684123
NM_006231.3(POLE):c.718G>A (p.Val240Met) rs371882716
NM_006231.3(POLE):c.720+1G>A rs1060500808
NM_006231.3(POLE):c.720+4A>C rs990057702
NM_006231.3(POLE):c.720+6T>C rs751448342
NM_006231.3(POLE):c.720G>A (p.Val240=) rs757227169
NM_006231.3(POLE):c.721-3C>T rs1593081255
NM_006231.3(POLE):c.721-4G>T rs765420775
NM_006231.3(POLE):c.724C>T (p.His242Tyr) rs148525573
NM_006231.3(POLE):c.725A>G (p.His242Arg) rs767612904
NM_006231.3(POLE):c.729G>A (p.Trp243Ter) rs1565977663
NM_006231.3(POLE):c.734A>G (p.Asn245Ser) rs761812569
NM_006231.3(POLE):c.737_753delinsA (p.Val246fs) rs1064792920
NM_006231.3(POLE):c.73G>A (p.Ala25Thr) rs773204331
NM_006231.3(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.3(POLE):c.745C>T (p.Arg249Ter) rs769190256
NM_006231.3(POLE):c.746G>A (p.Arg249Gln) rs1331349861
NM_006231.3(POLE):c.74C>T (p.Ala25Val) rs561834381
NM_006231.3(POLE):c.751A>T (p.Asn251Tyr) rs1392954149
NM_006231.3(POLE):c.758T>C (p.Phe253Ser) rs1555229581
NM_006231.3(POLE):c.763G>A (p.Val255Ile) rs776357611
NM_006231.3(POLE):c.769A>G (p.Ile257Val) rs1466704603
NM_006231.3(POLE):c.76A>G (p.Thr26Ala) rs182282150
NM_006231.3(POLE):c.773C>T (p.Thr258Ile) rs1196808684
NM_006231.3(POLE):c.775C>T (p.Arg259Cys) rs777638541
NM_006231.3(POLE):c.776G>T (p.Arg259Leu) rs61732929
NM_006231.3(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.3(POLE):c.781G>C (p.Asp261His) rs1593081010
NM_006231.3(POLE):c.785A>C (p.Asp262Ala) rs1060500852
NM_006231.3(POLE):c.793G>C (p.Glu265Gln) rs1565977511
NM_006231.3(POLE):c.796C>T (p.Arg266Ter) rs767666219
NM_006231.3(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.3(POLE):c.7C>G (p.Leu3Val) rs1018143132
NM_006231.3(POLE):c.801+4A>G rs1565977480
NM_006231.3(POLE):c.802-1G>C rs1555229470
NM_006231.3(POLE):c.802-3C>T rs1593079733
NM_006231.3(POLE):c.802-5C>A rs376302620
NM_006231.3(POLE):c.802-8C>A rs1429750584
NM_006231.3(POLE):c.805C>G (p.Pro269Ala) rs757438555
NM_006231.3(POLE):c.806del (p.Pro269fs) rs1435794183
NM_006231.3(POLE):c.808G>A (p.Val270Met) rs374237142
NM_006231.3(POLE):c.80C>T (p.Ser27Phe) rs1593088347
NM_006231.3(POLE):c.823G>C (p.Asp275His) rs879254218
NM_006231.3(POLE):c.824A>G (p.Asp275Gly) rs1565976801
NM_006231.3(POLE):c.825C>G (p.Asp275Glu) rs1483809345
NM_006231.3(POLE):c.826A>G (p.Ile276Val) rs1280169933
NM_006231.3(POLE):c.833C>T (p.Thr278Met) rs764254754
NM_006231.3(POLE):c.836C>T (p.Thr279Ile) rs753262710
NM_006231.3(POLE):c.840A>C (p.Lys280Asn) rs908089476
NM_006231.3(POLE):c.842T>C (p.Leu281Pro) rs1555229430
NM_006231.3(POLE):c.847C>T (p.Leu283Phe) rs878854898
NM_006231.3(POLE):c.850A>G (p.Lys284Glu) rs568483856
NM_006231.3(POLE):c.850_851del (p.Lys284fs) rs1555229421
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_006231.3(POLE):c.863C>G (p.Ala288Gly) rs771619667
NM_006231.3(POLE):c.869C>T (p.Thr290Ile) rs1555229412
NM_006231.3(POLE):c.876G>T (p.Gln292His) rs1324298673
NM_006231.3(POLE):c.87T>G (p.Val29=) rs1565981775
NM_006231.3(POLE):c.882G>A (p.Met294Ile) rs774328855
NM_006231.3(POLE):c.882G>T (p.Met294Ile) rs774328855
NM_006231.3(POLE):c.886A>G (p.Ile296Val) rs1555229409
NM_006231.3(POLE):c.895A>G (p.Met299Val) rs370727992
NM_006231.3(POLE):c.89C>T (p.Ser30Leu) rs997586826
NM_006231.3(POLE):c.900C>A (p.Ile300=) rs1161210567
NM_006231.3(POLE):c.900C>G (p.Ile300Met) rs1161210567
NM_006231.3(POLE):c.901G>A (p.Asp301Asn) rs1060500882
NM_006231.3(POLE):c.902A>G (p.Asp301Gly) rs1060500828
NM_006231.3(POLE):c.907C>T (p.Gln303Ter) rs749117997
NM_006231.3(POLE):c.909G>C (p.Gln303His) rs779801916
NM_006231.3(POLE):c.90G>A (p.Ser30=) rs369224511
NM_006231.3(POLE):c.910-4C>G rs1555229332
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
NM_006231.3(POLE):c.916C>T (p.Leu306Phe) rs1343048638
NM_006231.3(POLE):c.926A>G (p.Asn309Ser) rs767060387
NM_006231.3(POLE):c.928A>G (p.Arg310Gly) rs761451243
NM_006231.3(POLE):c.929_932delinsCCAACT (p.Arg310fs) rs1593078531
NM_006231.3(POLE):c.936T>G (p.Ile312Met) rs1555229316
NM_006231.3(POLE):c.942A>C (p.Ser314=) rs548933169
NM_006231.3(POLE):c.947A>G (p.Asp316Gly) rs1555229304
NM_006231.3(POLE):c.950T>C (p.Ile317Thr) rs1060500783
NM_006231.3(POLE):c.950T>G (p.Ile317Ser) rs1060500783
NM_006231.3(POLE):c.955G>A (p.Asp319Asn) rs116162724
NM_006231.3(POLE):c.95T>C (p.Leu32Pro) rs878854900
NM_006231.3(POLE):c.95T>G (p.Leu32Arg) rs878854900
NM_006231.3(POLE):c.964T>C (p.Phe322Leu) rs1555229294
NM_006231.3(POLE):c.968C>T (p.Thr323Ile) rs1060500873
NM_006231.3(POLE):c.970C>A (p.Pro324Thr) rs1397733219
NM_006231.3(POLE):c.971C>T (p.Pro324Leu) rs1593078390
NM_006231.3(POLE):c.974A>G (p.Lys325Arg) rs1555229291
NM_006231.3(POLE):c.976C>G (p.Pro326Ala) rs1565976104
NM_006231.3(POLE):c.976C>T (p.Pro326Ser) rs1565976104
NM_006231.3(POLE):c.979G>A (p.Glu327Lys) rs772154998
NM_006231.3(POLE):c.983A>G (p.Tyr328Cys) rs1339375099
NM_006231.3(POLE):c.983A>T (p.Tyr328Phe) rs1339375099
NM_006231.3(POLE):c.988G>A (p.Gly330Ser) rs1555229288
NM_006231.3(POLE):c.992C>T (p.Pro331Leu) rs1440925386
NM_006231.4(POLE):c.-1C>T rs1565986723
NM_006231.4(POLE):c.-5G>T rs1593099237
NM_006231.4(POLE):c.1004T>G (p.Phe335Cys) rs1593078268
NM_006231.4(POLE):c.100C>T (p.Arg34Cys)
NM_006231.4(POLE):c.1011A>C (p.Glu337Asp) rs780653256
NM_006231.4(POLE):c.1013C>T (p.Pro338Leu) rs1593078223
NM_006231.4(POLE):c.1015G>T (p.Asp339Tyr)
NM_006231.4(POLE):c.1020+3A>G
NM_006231.4(POLE):c.1020+5G>A rs751162799
NM_006231.4(POLE):c.1020G>A (p.Glu340=) rs1593078178
NM_006231.4(POLE):c.1021G>A (p.Ala341Thr)
NM_006231.4(POLE):c.1024C>T (p.His342Tyr)
NM_006231.4(POLE):c.1037G>C (p.Arg346Thr) rs1565975676
NM_006231.4(POLE):c.1045G>T (p.Glu349Ter)
NM_006231.4(POLE):c.104T>A (p.Leu35Gln)
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746
NM_006231.4(POLE):c.1058A>C (p.Glu353Ala)
NM_006231.4(POLE):c.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.4(POLE):c.1070C>T (p.Thr357Ile)
NM_006231.4(POLE):c.1078G>A (p.Val360Ile)
NM_006231.4(POLE):c.1085A>G (p.Tyr362Cys) rs1368897791
NM_006231.4(POLE):c.1087A>G (p.Asn363Asp)
NM_006231.4(POLE):c.1090G>A (p.Gly364Arg)
NM_006231.4(POLE):c.1094A>C (p.Asp365Ala)
NM_006231.4(POLE):c.1101dup (p.Asp368Ter) rs1488526952
NM_006231.4(POLE):c.1102G>A (p.Asp368Asn) rs1593077422
NM_006231.4(POLE):c.1107-3C>T rs369572563
NM_006231.4(POLE):c.1108C>T (p.Pro370Ser)
NM_006231.4(POLE):c.1115_1116del (p.Val372fs)
NM_006231.4(POLE):c.1119G>C (p.Glu373Asp) rs1555229135
NM_006231.4(POLE):c.1127C>G (p.Ala376Gly)
NM_006231.4(POLE):c.1144A>T (p.Ser382Cys)
NM_006231.4(POLE):c.1145G>C (p.Ser382Thr)
NM_006231.4(POLE):c.1169A>G (p.Gln390Arg)
NM_006231.4(POLE):c.1172A>T (p.Lys391Met)
NM_006231.4(POLE):c.1174G>A (p.Asp392Asn)
NM_006231.4(POLE):c.1177A>G (p.Ser393Gly)
NM_006231.4(POLE):c.1181A>G (p.Gln394Arg) rs1014444345
NM_006231.4(POLE):c.1183G>C (p.Gly395Arg)
NM_006231.4(POLE):c.1191del (p.Glu396_Tyr397insTer)
NM_006231.4(POLE):c.1214T>C (p.Met405Thr)
NM_006231.4(POLE):c.1226+2_1226+5del rs1593076635
NM_006231.4(POLE):c.1226+3A>G
NM_006231.4(POLE):c.1226+6G>T
NM_006231.4(POLE):c.1227-4C>T rs1200122093
NM_006231.4(POLE):c.122C>G (p.Thr41Arg)
NM_006231.4(POLE):c.1243A>G (p.Ser415Gly) rs1593073453
NM_006231.4(POLE):c.1244G>T (p.Ser415Ile) rs1593073447
NM_006231.4(POLE):c.1249C>T (p.Leu417Phe) rs1593073432
NM_006231.4(POLE):c.1255G>T (p.Val419Leu) rs1211013221
NM_006231.4(POLE):c.1265A>G (p.His422Arg) rs1222137844
NM_006231.4(POLE):c.1270C>T (p.Leu424Phe) rs483352909
NM_006231.4(POLE):c.1274A>C (p.Lys425Thr)
NM_006231.4(POLE):c.127A>G (p.Lys43Glu)
NM_006231.4(POLE):c.1282G>C (p.Ala428Pro)
NM_006231.4(POLE):c.1287G>T (p.Lys429Asn) rs1593073300
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.4(POLE):c.1288G>T (p.Ala430Ser)
NM_006231.4(POLE):c.1293del (p.Lys431fs) rs1593073279
NM_006231.4(POLE):c.1306C>T (p.Pro436Ser)
NM_006231.4(POLE):c.1309G>C (p.Val437Leu)
NM_006231.4(POLE):c.1311G>A (p.Val437=)
NM_006231.4(POLE):c.1314G>C (p.Glu438Asp)
NM_006231.4(POLE):c.1321C>G (p.Pro441Ala) rs1005538045
NM_006231.4(POLE):c.1321C>T (p.Pro441Ser)
NM_006231.4(POLE):c.1325A>C (p.Glu442Ala)
NM_006231.4(POLE):c.1325A>G (p.Glu442Gly)
NM_006231.4(POLE):c.1334G>A (p.Cys445Tyr)
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.4(POLE):c.1338G>T (p.Arg446=)
NM_006231.4(POLE):c.1350_1360del (p.Glu450fs) rs1565973030
NM_006231.4(POLE):c.1359+1G>A rs1473881269
NM_006231.4(POLE):c.1359+4_1359+74del rs1593072864
NM_006231.4(POLE):c.1360-36_1360-1del
NM_006231.4(POLE):c.1379del (p.Val460fs)
NM_006231.4(POLE):c.138G>C (p.Leu46Phe) rs200611521
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.4(POLE):c.13A>G (p.Ser5Gly)
NM_006231.4(POLE):c.1402T>C (p.Tyr468His)
NM_006231.4(POLE):c.1409A>G (p.Tyr470Cys) rs1593072353
NM_006231.4(POLE):c.1432A>G (p.Ile478Val) rs1195703002
NM_006231.4(POLE):c.143T>G (p.Phe48Cys)
NM_006231.4(POLE):c.1448C>T (p.Thr483Ile) rs1593072208
NM_006231.4(POLE):c.1450A>G (p.Ile484Val) rs1027889796
NM_006231.4(POLE):c.1459A>G (p.Met487Val)
NM_006231.4(POLE):c.1460T>C (p.Met487Thr)
NM_006231.4(POLE):c.1473+2T>C rs1593072081
NM_006231.4(POLE):c.1473+3G>A rs1264359374
NM_006231.4(POLE):c.1474-3C>G rs1593071467
NM_006231.4(POLE):c.1480C>G (p.Arg494Gly)
NM_006231.4(POLE):c.1481G>A (p.Arg494Gln)
NM_006231.4(POLE):c.14G>A (p.Ser5Asn)
NM_006231.4(POLE):c.152A>G (p.Glu51Gly)
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.4(POLE):c.1540A>T (p.Ile514Phe)
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881
NM_006231.4(POLE):c.1550C>G (p.Pro517Arg)
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141
NM_006231.4(POLE):c.1564C>T (p.Gln522Ter)
NM_006231.4(POLE):c.1617C>A (p.Tyr539Ter) rs775930793
NM_006231.4(POLE):c.1622G>A (p.Gly541Glu)
NM_006231.4(POLE):c.1624G>T (p.Gly542Cys)
NM_006231.4(POLE):c.1637C>G (p.Ala546Gly)
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715
NM_006231.4(POLE):c.1651G>A (p.Val551Ile)
NM_006231.4(POLE):c.1658G>A (p.Arg553His)
NM_006231.4(POLE):c.1662C>A (p.Ser554Arg)
NM_006231.4(POLE):c.1669C>T (p.Pro557Ser)
NM_006231.4(POLE):c.1675C>T (p.Arg559Trp)
NM_006231.4(POLE):c.1686+2T>C
NM_006231.4(POLE):c.1688A>G (p.Asn563Ser)
NM_006231.4(POLE):c.1690C>T (p.Pro564Ser)
NM_006231.4(POLE):c.1697C>T (p.Ala566Val)
NM_006231.4(POLE):c.16G>A (p.Gly6Ser)
NM_006231.4(POLE):c.1715A>G (p.Gln572Arg)
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) rs373000452
NM_006231.4(POLE):c.1720G>A (p.Val574Ile)
NM_006231.4(POLE):c.1728G>C (p.Lys576Asn)
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234
NM_006231.4(POLE):c.1738C>T (p.His580Tyr)
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755
NM_006231.4(POLE):c.1742C>G (p.Ala581Gly) rs753890723
NM_006231.4(POLE):c.1744C>G (p.Leu582Val)
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe) rs761273376
NM_006231.4(POLE):c.1749G>A (p.Glu583=)
NM_006231.4(POLE):c.176del (p.Lys59fs)
NM_006231.4(POLE):c.1771G>C (p.Glu591Gln)
NM_006231.4(POLE):c.1787T>C (p.Phe596Ser)
NM_006231.4(POLE):c.1790A>G (p.Glu597Gly)
NM_006231.4(POLE):c.1794+3A>G
NM_006231.4(POLE):c.1794+3dup rs1593069205
NM_006231.4(POLE):c.1795-752_1864del
NM_006231.4(POLE):c.1799G>C (p.Cys600Ser)
NM_006231.4(POLE):c.179C>T (p.Thr60Ile)
NM_006231.4(POLE):c.17_20GCGG[3] (p.Arg9fs) rs1593099111
NM_006231.4(POLE):c.1800_1802TGA[3] (p.Asp601dup) rs1593793500
NM_006231.4(POLE):c.1802A>T (p.Asp601Val)
NM_006231.4(POLE):c.1831A>G (p.Lys611Glu)
NM_006231.4(POLE):c.1835A>G (p.Asp612Gly)
NM_006231.4(POLE):c.1837G>T (p.Val613Phe)
NM_006231.4(POLE):c.1844_1845delinsTG (p.Ser615Met)
NM_006231.4(POLE):c.1849A>G (p.Ile617Val)
NM_006231.4(POLE):c.1849A>T (p.Ile617Phe)
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.1871A>C (p.His624Pro)
NM_006231.4(POLE):c.1889T>C (p.Met630Thr)
NM_006231.4(POLE):c.190A>G (p.Ile64Val)
NM_006231.4(POLE):c.1913A>G (p.Asn638Ser)
NM_006231.4(POLE):c.1915C>A (p.Arg639Ser)
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys)
NM_006231.4(POLE):c.1916G>T (p.Arg639Leu)
NM_006231.4(POLE):c.1923+4A>G rs1464802642
NM_006231.4(POLE):c.1933A>G (p.Met645Val)
NM_006231.4(POLE):c.1936G>A (p.Val646Met)
NM_006231.4(POLE):c.1946C>A (p.Ala649Asp)
NM_006231.4(POLE):c.1949C>G (p.Thr650Ser)
NM_006231.4(POLE):c.1951T>C (p.Cys651Arg)
NM_006231.4(POLE):c.1953T>G (p.Cys651Trp)
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482
NM_006231.4(POLE):c.1968C>A (p.Phe656Leu)
NM_006231.4(POLE):c.1973A>T (p.Lys658Met)
NM_006231.4(POLE):c.1974G>T (p.Lys658Asn)
NM_006231.4(POLE):c.1976C>T (p.Pro659Leu)
NM_006231.4(POLE):c.1982C>G (p.Ala661Gly)
NM_006231.4(POLE):c.1984A>C (p.Asn662His)
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2003C>T (p.Ala668Val)
NM_006231.4(POLE):c.200A>G (p.His67Arg)
NM_006231.4(POLE):c.2017G>A (p.Gly673Ser)
NM_006231.4(POLE):c.2021A>T (p.Glu674Val)
NM_006231.4(POLE):c.202C>T (p.Pro68Ser)
NM_006231.4(POLE):c.204T>G (p.Pro68=)
NM_006231.4(POLE):c.205-2A>G
NM_006231.4(POLE):c.2053C>G (p.Arg685Gly)
NM_006231.4(POLE):c.2058C>G (p.Ile686Met)
NM_006231.4(POLE):c.205A>G (p.Thr69Ala)
NM_006231.4(POLE):c.2080A>G (p.Lys694Glu)
NM_006231.4(POLE):c.2084T>G (p.Phe695Cys)
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2097C>G (p.Phe699Leu)
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868
NM_006231.4(POLE):c.20G>A (p.Gly7Glu)
NM_006231.4(POLE):c.2101G>C (p.Glu701Gln)
NM_006231.4(POLE):c.2114G>C (p.Arg705Pro)
NM_006231.4(POLE):c.2117C>A (p.Ala706Asp)
NM_006231.4(POLE):c.2123A>G (p.His708Arg)
NM_006231.4(POLE):c.2125G>A (p.Glu709Lys)
NM_006231.4(POLE):c.2140G>A (p.Glu714Lys)
NM_006231.4(POLE):c.2144A>G (p.Gln715Arg)
NM_006231.4(POLE):c.2150A>G (p.Lys717Arg)
NM_006231.4(POLE):c.2159A>G (p.Lys720Arg)
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.4(POLE):c.2172G>T (p.Ala724=)
NM_006231.4(POLE):c.2174A>T (p.Asp725Val)
NM_006231.4(POLE):c.2197_2201dup (p.His735fs) rs1593790219
NM_006231.4(POLE):c.2206A>G (p.Ile736Val)
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn) rs749305408
NM_006231.4(POLE):c.2215G>A (p.Val739Met)
NM_006231.4(POLE):c.2221G>A (p.Glu741Lys)
NM_006231.4(POLE):c.2233A>C (p.Thr745Pro)
NM_006231.4(POLE):c.2237T>C (p.Ile746Thr)
NM_006231.4(POLE):c.2239T>C (p.Cys747Arg)
NM_006231.4(POLE):c.2261A>G (p.Tyr754Cys)
NM_006231.4(POLE):c.226A>G (p.Lys76Glu)
NM_006231.4(POLE):c.2279C>T (p.Ala760Val)
NM_006231.4(POLE):c.2291G>A (p.Arg764Lys)
NM_006231.4(POLE):c.2293C>T (p.Arg765Cys)
NM_006231.4(POLE):c.2294G>C (p.Arg765Pro)
NM_006231.4(POLE):c.2309G>A (p.Gly770Glu)
NM_006231.4(POLE):c.230G>A (p.Arg77His)
NM_006231.4(POLE):c.2316C>A (p.His772Gln)
NM_006231.4(POLE):c.2321T>G (p.Val774Gly)
NM_006231.4(POLE):c.2331_2332del (p.Lys778fs)
NM_006231.4(POLE):c.2335C>G (p.Leu779Val) rs747478766
NM_006231.4(POLE):c.233T>G (p.Leu78Ter)
NM_006231.4(POLE):c.2356G>A (p.Gly786Ser)
NM_006231.4(POLE):c.2361C>A (p.Asp787Glu)
NM_006231.4(POLE):c.2362G>C (p.Ala788Pro)
NM_006231.4(POLE):c.2375A>G (p.Lys792Arg)
NM_006231.4(POLE):c.2380T>C (p.Cys794Arg)
NM_006231.4(POLE):c.2395G>A (p.Val799Met)
NM_006231.4(POLE):c.2407T>A (p.Ser803Thr)
NM_006231.4(POLE):c.2424C>G (p.His808Gln)
NM_006231.4(POLE):c.2438A>G (p.Asn813Ser)
NM_006231.4(POLE):c.2455G>A (p.Val819Ile)
NM_006231.4(POLE):c.2458A>G (p.Met820Val)
NM_006231.4(POLE):c.2461C>T (p.Arg821Cys)
NM_006231.4(POLE):c.2465A>G (p.Lys822Arg)
NM_006231.4(POLE):c.2469-9T>C
NM_006231.4(POLE):c.2477_2501dup (p.Ile834fs)
NM_006231.4(POLE):c.2478G>A (p.Trp826Ter) rs375426113
NM_006231.4(POLE):c.2482T>A (p.Ser828Thr)
NM_006231.4(POLE):c.2482T>C (p.Ser828Pro)
NM_006231.4(POLE):c.2488G>A (p.Glu830Lys)
NM_006231.4(POLE):c.2489_2493del (p.Glu830fs)
NM_006231.4(POLE):c.2510T>G (p.Phe837Cys)
NM_006231.4(POLE):c.251A>G (p.Tyr84Cys)
NM_006231.4(POLE):c.2522A>G (p.Asn841Ser)
NM_006231.4(POLE):c.2539C>T (p.Arg847Trp)
NM_006231.4(POLE):c.2555A>G (p.Gln852Arg)
NM_006231.4(POLE):c.2559T>G (p.Ile853Met)
NM_006231.4(POLE):c.2561+1G>T rs1565961210
NM_006231.4(POLE):c.2567C>T (p.Pro856Leu)
NM_006231.4(POLE):c.2569T>A (p.Leu857Ile)
NM_006231.4(POLE):c.2585_2612dup (p.Ser871fs) rs1593782203
NM_006231.4(POLE):c.2595G>A (p.Trp865Ter) rs1593782279
NM_006231.4(POLE):c.2597G>A (p.Cys866Tyr)
NM_006231.4(POLE):c.2598_2599del (p.Val867fs) rs1593782262
NM_006231.4(POLE):c.2599G>C (p.Val867Leu)
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.4(POLE):c.2626T>G (p.Phe876Val)
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991
NM_006231.4(POLE):c.2656C>G (p.Pro886Ala)
NM_006231.4(POLE):c.2663T>C (p.Val888Ala)
NM_006231.4(POLE):c.2677C>G (p.Pro893Ala)
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.4(POLE):c.26G>A (p.Arg9Gln)
NM_006231.4(POLE):c.2701G>T (p.Val901Phe)
NM_006231.4(POLE):c.2706+1G>T rs777844240
NM_006231.4(POLE):c.2706+1_2706+5del rs779830137
NM_006231.4(POLE):c.2706+3G>A
NM_006231.4(POLE):c.2706+5G>C
NM_006231.4(POLE):c.2706+6T>A
NM_006231.4(POLE):c.2707-3C>G rs1555226069
NM_006231.4(POLE):c.2708A>T (p.Glu903Val)
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505
NM_006231.4(POLE):c.2743G>A (p.Glu915Lys)
NM_006231.4(POLE):c.2747C>T (p.Pro916Leu)
NM_006231.4(POLE):c.2759C>T (p.Thr920Ile)
NM_006231.4(POLE):c.275G>A (p.Ser92Asn)
NM_006231.4(POLE):c.2783G>C (p.Ser928Thr)
NM_006231.4(POLE):c.2784C>A (p.Ser928Arg)
NM_006231.4(POLE):c.2807C>T (p.Pro936Leu)
NM_006231.4(POLE):c.2810A>C (p.Tyr937Ser)
NM_006231.4(POLE):c.2810A>G (p.Tyr937Cys)
NM_006231.4(POLE):c.2816C>T (p.Ala939Val)
NM_006231.4(POLE):c.2833T>A (p.Ser945Thr)
NM_006231.4(POLE):c.2833T>G (p.Ser945Ala)
NM_006231.4(POLE):c.286-2A>G rs1593086474
NM_006231.4(POLE):c.286-4del rs1555230256
NM_006231.4(POLE):c.286-8_286-7del
NM_006231.4(POLE):c.2863A>G (p.Arg955Gly)
NM_006231.4(POLE):c.2864+4G>A
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe) rs1593776406
NM_006231.4(POLE):c.2869G>T (p.Ala957Ser)
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.2885A>G (p.Asp962Gly)
NM_006231.4(POLE):c.2891C>A (p.Ser964Tyr)
NM_006231.4(POLE):c.2893C>A (p.Leu965Met)
NM_006231.4(POLE):c.289G>A (p.Ala97Thr)
NM_006231.4(POLE):c.289G>T (p.Ala97Ser) rs1593086461
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser) rs1480250083
NM_006231.4(POLE):c.2912T>C (p.Phe971Ser)
NM_006231.4(POLE):c.2929G>A (p.Gly977Arg)
NM_006231.4(POLE):c.2938C>G (p.Gln980Glu)
NM_006231.4(POLE):c.2944A>T (p.Ile982Phe) rs1593776104
NM_006231.4(POLE):c.2946T>G (p.Ile982Met)
NM_006231.4(POLE):c.2956del (p.Gln986fs) rs1593776083
NM_006231.4(POLE):c.297del (p.Tyr100fs)
NM_006231.4(POLE):c.3033C>G (p.Asp1011Glu)
NM_006231.4(POLE):c.303A>C (p.Lys101Asn)
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.4(POLE):c.3048_3049delinsAA (p.Leu1017Met)
NM_006231.4(POLE):c.3056G>T (p.Ser1019Ile)
NM_006231.4(POLE):c.305C>T (p.Pro102Leu)
NM_006231.4(POLE):c.3060+1G>A rs1593775696
NM_006231.4(POLE):c.3065C>T (p.Ala1022Val)
NM_006231.4(POLE):c.3070A>G (p.Met1024Val)
NM_006231.4(POLE):c.3071del (p.Met1024fs) rs1593772932
NM_006231.4(POLE):c.3078_3079CT[1] (p.Asp1026_Ser1027insTer)
NM_006231.4(POLE):c.3124A>G (p.Lys1042Glu)
NM_006231.4(POLE):c.3131A>G (p.Glu1044Gly)
NM_006231.4(POLE):c.313T>A (p.Tyr105Asn)
NM_006231.4(POLE):c.314A>G (p.Tyr105Cys)
NM_006231.4(POLE):c.3155C>T (p.Thr1052Met)
NM_006231.4(POLE):c.3160A>G (p.Ile1054Val)
NM_006231.4(POLE):c.3163A>G (p.Ser1055Gly)
NM_006231.4(POLE):c.3176G>A (p.Arg1059His)
NM_006231.4(POLE):c.3209A>G (p.Lys1070Arg)
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys) rs145680387
NM_006231.4(POLE):c.3250C>T (p.Pro1084Ser)
NM_006231.4(POLE):c.3253G>A (p.Glu1085Lys)
NM_006231.4(POLE):c.3262C>A (p.Pro1088Thr) rs957043409
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006231.4(POLE):c.3275+5G>A rs1593772111
NM_006231.4(POLE):c.3275G>A (p.Arg1092Lys)
NM_006231.4(POLE):c.3276G>C (p.Arg1092Ser)
NM_006231.4(POLE):c.3277G>A (p.Ala1093Thr)
NM_006231.4(POLE):c.3277G>T (p.Ala1093Ser)
NM_006231.4(POLE):c.3281T>C (p.Ile1094Thr)
NM_006231.4(POLE):c.3284C>G (p.Pro1095Arg)
NM_006231.4(POLE):c.328A>G (p.Lys110Glu)
NM_006231.4(POLE):c.330+3G>T rs369152225
NM_006231.4(POLE):c.3322C>G (p.His1108Asp)
NM_006231.4(POLE):c.3323A>G (p.His1108Arg)
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3343A>C (p.Lys1115Gln)
NM_006231.4(POLE):c.3352T>G (p.Ser1118Ala)
NM_006231.4(POLE):c.3353C>G (p.Ser1118Cys)
NM_006231.4(POLE):c.3353C>T (p.Ser1118Phe)
NM_006231.4(POLE):c.3362A>G (p.Asp1121Gly)
NM_006231.4(POLE):c.3368A>G (p.Asp1123Gly)
NM_006231.4(POLE):c.3370A>G (p.Ile1124Val)
NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly)
NM_006231.4(POLE):c.3396C>A (p.Tyr1132Ter)
NM_006231.4(POLE):c.3396C>G (p.Tyr1132Ter) rs1593766726
NM_006231.4(POLE):c.33G>A (p.Ala11=)
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.4(POLE):c.3425_3427AGA[1] (p.Lys1143del) rs1593766582
NM_006231.4(POLE):c.3430A>G (p.Ile1144Val)
NM_006231.4(POLE):c.3445G>T (p.Ala1149Ser)
NM_006231.4(POLE):c.3446C>G (p.Ala1149Gly)
NM_006231.4(POLE):c.3459+6G>A
NM_006231.4(POLE):c.3463A>G (p.Lys1155Glu)
NM_006231.4(POLE):c.3469C>T (p.Pro1157Ser)
NM_006231.4(POLE):c.3479G>A (p.Arg1160His)
NM_006231.4(POLE):c.3489C>G (p.His1163Gln)
NM_006231.4(POLE):c.3493G>T (p.Asp1165Tyr)
NM_006231.4(POLE):c.349T>G (p.Ser117Ala)
NM_006231.4(POLE):c.3505A>C (p.Lys1169Gln)
NM_006231.4(POLE):c.3506A>C (p.Lys1169Thr)
NM_006231.4(POLE):c.350C>T (p.Ser117Leu)
NM_006231.4(POLE):c.3517G>A (p.Glu1173Lys)
NM_006231.4(POLE):c.3522G>C (p.Lys1174Asn)
NM_006231.4(POLE):c.3526G>A (p.Asp1176Asn)
NM_006231.4(POLE):c.3529G>A (p.Val1177Ile)
NM_006231.4(POLE):c.3539_3541AGA[2] (p.Lys1182del) rs1555225139
NM_006231.4(POLE):c.3545A>T (p.Lys1182Met)
NM_006231.4(POLE):c.3548T>A (p.Ile1183Asn)
NM_006231.4(POLE):c.3563C>T (p.Thr1188Ile)
NM_006231.4(POLE):c.3570_3571delinsAA (p.Gly1191Ser)
NM_006231.4(POLE):c.3571G>A (p.Gly1191Ser)
NM_006231.4(POLE):c.3576G>C (p.Arg1192Ser)
NM_006231.4(POLE):c.3582+6G>T
NM_006231.4(POLE):c.3583-9T>G rs1218288858
NM_006231.4(POLE):c.3587C>G (p.Thr1196Arg)
NM_006231.4(POLE):c.3590delinsGGTCTGA (p.Met1197delinsArgSerGlu) rs1555224131
NM_006231.4(POLE):c.3602C>T (p.Ser1201Leu)
NM_006231.4(POLE):c.3611G>T (p.Ser1204Ile)
NM_006231.4(POLE):c.361del (p.Ser121fs)
NM_006231.4(POLE):c.3620C>G (p.Pro1207Arg)
NM_006231.4(POLE):c.3628C>T (p.Pro1210Ser)
NM_006231.4(POLE):c.3657G>C (p.Lys1219Asn)
NM_006231.4(POLE):c.3662C>G (p.Pro1221Arg)
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3674C>T (p.Ala1225Val)
NM_006231.4(POLE):c.3697C>T (p.Arg1233Ter) rs745750549
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu) rs1565946576
NM_006231.4(POLE):c.3716A>T (p.Gln1239Leu)
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.4(POLE):c.3721_3722inv (p.Glu1241Ser)
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala) rs755166232
NM_006231.4(POLE):c.3724T>C (p.Ser1242Pro)
NM_006231.4(POLE):c.3728A>C (p.Gln1243Pro)
NM_006231.4(POLE):c.3730G>A (p.Asp1244Asn)
NM_006231.4(POLE):c.3748C>T (p.Pro1250Ser)
NM_006231.4(POLE):c.3753G>A (p.Trp1251Ter)
NM_006231.4(POLE):c.3755A>C (p.Gln1252Pro)
NM_006231.4(POLE):c.3763T>G (p.Leu1255Val)
NM_006231.4(POLE):c.3773C>T (p.Pro1258Leu)
NM_006231.4(POLE):c.3785G>C (p.Gly1262Ala)
NM_006231.4(POLE):c.3795+6G>T
NM_006231.4(POLE):c.3799G>T (p.Glu1267Ter) rs749543313
NM_006231.4(POLE):c.37C>G (p.Pro13Ala)
NM_006231.4(POLE):c.37C>T (p.Pro13Ser)
NM_006231.4(POLE):c.3826_3828AAG[2] (p.Lys1278del)
NM_006231.4(POLE):c.3844C>T (p.Gln1282Ter) rs1593750192
NM_006231.4(POLE):c.3845A>C (p.Gln1282Pro)
NM_006231.4(POLE):c.3845A>G (p.Gln1282Arg)
NM_006231.4(POLE):c.3846_3976dup (p.Ile1326fs)
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.4(POLE):c.3854_3880del (p.Gln1285_Gln1293del) rs1593750014
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys) rs770036124
NM_006231.4(POLE):c.3868A>G (p.Arg1290Gly)
NM_006231.4(POLE):c.3875G>C (p.Arg1292Thr)
NM_006231.4(POLE):c.3899G>A (p.Gly1300Asp)
NM_006231.4(POLE):c.3901G>A (p.Val1301Met) rs112098447
NM_006231.4(POLE):c.3909G>T (p.Arg1303Ser)
NM_006231.4(POLE):c.394G>T (p.Glu132Ter)
NM_006231.4(POLE):c.3970C>G (p.Arg1324Gly)
NM_006231.4(POLE):c.3973A>G (p.Ser1325Gly)
NM_006231.4(POLE):c.3988C>T (p.Pro1330Ser)
NM_006231.4(POLE):c.398C>G (p.Thr133Ser)
NM_006231.4(POLE):c.3G>C (p.Met1Ile) rs1555231433
NM_006231.4(POLE):c.4005+3_4005+10delinsG
NM_006231.4(POLE):c.4008C>G (p.Ile1336Met)
NM_006231.4(POLE):c.400G>A (p.Val134Ile)
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys) rs751555395
NM_006231.4(POLE):c.4016C>G (p.Thr1339Ser)
NM_006231.4(POLE):c.4021C>A (p.Gln1341Lys)
NM_006231.4(POLE):c.4035C>G (p.Phe1345Leu)
NM_006231.4(POLE):c.4039C>G (p.Leu1347Val)
NM_006231.4(POLE):c.4066C>G (p.His1356Asp)
NM_006231.4(POLE):c.4072A>G (p.Ile1358Val)
NM_006231.4(POLE):c.4072A>T (p.Ile1358Phe)
NM_006231.4(POLE):c.407A>T (p.Lys136Ile)
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304
NM_006231.4(POLE):c.4099T>C (p.Tyr1367His)
NM_006231.4(POLE):c.4107C>A (p.Asn1369Lys)
NM_006231.4(POLE):c.4115T>C (p.Val1372Ala)
NM_006231.4(POLE):c.4117G>A (p.Ala1373Thr)
NM_006231.4(POLE):c.4135G>C (p.Ala1379Pro)
NM_006231.4(POLE):c.4149+1G>A
NM_006231.4(POLE):c.4149+5G>A
NM_006231.4(POLE):c.4149+6G>A
NM_006231.4(POLE):c.4150-3C>T
NM_006231.4(POLE):c.4153A>T (p.Asn1385Tyr)
NM_006231.4(POLE):c.4159G>A (p.Val1387Ile)
NM_006231.4(POLE):c.4160T>C (p.Val1387Ala)
NM_006231.4(POLE):c.4179_4180delinsT (p.Met1393fs)
NM_006231.4(POLE):c.4180G>T (p.Val1394Phe)
NM_006231.4(POLE):c.4194T>G (p.Tyr1398Ter) rs1593736291
NM_006231.4(POLE):c.4198T>A (p.Tyr1400Asn)
NM_006231.4(POLE):c.41G>A (p.Gly14Asp)
NM_006231.4(POLE):c.4202C>G (p.Ser1401Ter)
NM_006231.4(POLE):c.4217T>G (p.Met1406Arg)
NM_006231.4(POLE):c.4222C>T (p.Gln1408Ter)
NM_006231.4(POLE):c.423+2_423+4delinsAGT
NM_006231.4(POLE):c.423+6T>A
NM_006231.4(POLE):c.4250A>T (p.Glu1417Val)
NM_006231.4(POLE):c.4277T>G (p.Val1426Gly)
NM_006231.4(POLE):c.4278A>G (p.Val1426=)
NM_006231.4(POLE):c.4280A>G (p.Tyr1427Cys)
NM_006231.4(POLE):c.4288C>T (p.Gln1430Ter) rs1593735770
NM_006231.4(POLE):c.4294C>G (p.Pro1432Ala)
NM_006231.4(POLE):c.4309G>A (p.Ala1437Thr)
NM_006231.4(POLE):c.4327_4328TG[7] (p.Val1447fs) rs758487568
NM_006231.4(POLE):c.4330G>T (p.Val1444Leu)
NM_006231.4(POLE):c.4334G>A (p.Cys1445Tyr)
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516
NM_006231.4(POLE):c.4370G>A (p.Gly1457Asp)
NM_006231.4(POLE):c.4374G>A (p.Trp1458Ter) rs747449574
NM_006231.4(POLE):c.4378G>A (p.Ala1460Thr)
NM_006231.4(POLE):c.4391C>T (p.Ala1464Val)
NM_006231.4(POLE):c.440G>A (p.Gly147Asp)
NM_006231.4(POLE):c.4412G>A (p.Arg1471His)
NM_006231.4(POLE):c.4412G>T (p.Arg1471Leu)
NM_006231.4(POLE):c.4414T>C (p.Ser1472Pro)
NM_006231.4(POLE):c.4415C>G (p.Ser1472Cys)
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177
NM_006231.4(POLE):c.4444+1G>A rs1593734374
NM_006231.4(POLE):c.4444+1_4444+16del
NM_006231.4(POLE):c.4454G>T (p.Arg1485Leu)
NM_006231.4(POLE):c.4461C>G (p.Ile1487Met)
NM_006231.4(POLE):c.4465C>G (p.Leu1489Val)
NM_006231.4(POLE):c.4476C>G (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633
NM_006231.4(POLE):c.4492G>A (p.Ala1498Thr)
NM_006231.4(POLE):c.4513C>T (p.Pro1505Ser)
NM_006231.4(POLE):c.4520A>G (p.Gln1507Arg)
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.4(POLE):c.4523G>T (p.Arg1508Leu)
NM_006231.4(POLE):c.4543_4546delinsTCC (p.Leu1515fs) rs1593733478
NM_006231.4(POLE):c.4549A>T (p.Thr1517Ser)
NM_006231.4(POLE):c.4551+2T>G rs1374395062
NM_006231.4(POLE):c.4552-1dup rs1593732836
NM_006231.4(POLE):c.4569G>A (p.Met1523Ile)
NM_006231.4(POLE):c.4574G>A (p.Ser1525Asn)
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985
NM_006231.4(POLE):c.458T>A (p.Ile153Asn)
NM_006231.4(POLE):c.4637T>C (p.Leu1546Pro)
NM_006231.4(POLE):c.4646C>A (p.Pro1549His)
NM_006231.4(POLE):c.4647del (p.Lys1550fs) rs754220952
NM_006231.4(POLE):c.4650A>G (p.Lys1550=)
NM_006231.4(POLE):c.4652A>G (p.His1551Arg)
NM_006231.4(POLE):c.4681del (p.Asp1560_Leu1561insTer) rs1593732129
NM_006231.4(POLE):c.4690A>G (p.Ile1564Val)
NM_006231.4(POLE):c.4692C>G (p.Ile1564Met)
NM_006231.4(POLE):c.4705C>T (p.Gln1569Ter)
NM_006231.4(POLE):c.4709G>T (p.Arg1570Leu)
NM_006231.4(POLE):c.4715T>C (p.Leu1572Pro)
NM_006231.4(POLE):c.4728+4A>T
NM_006231.4(POLE):c.4729-10del
NM_006231.4(POLE):c.4729G>A (p.Glu1577Lys) rs1593731650
NM_006231.4(POLE):c.4738C>G (p.Arg1580Gly)
NM_006231.4(POLE):c.4743del (p.Thr1583fs)
NM_006231.4(POLE):c.4743dup (p.Pro1582fs) rs1593731554
NM_006231.4(POLE):c.4745C>T (p.Pro1582Leu)
NM_006231.4(POLE):c.4747A>G (p.Thr1583Ala)
NM_006231.4(POLE):c.4753A>G (p.Ile1585Val)
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn) rs1565937957
NM_006231.4(POLE):c.4756G>T (p.Ala1586Ser) rs746266857
NM_006231.4(POLE):c.4757del (p.Ala1586fs)
NM_006231.4(POLE):c.4759G>T (p.Val1587Phe)
NM_006231.4(POLE):c.4785G>T (p.Arg1595Ser)
NM_006231.4(POLE):c.47A>C (p.Asp16Ala)
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu)
NM_006231.4(POLE):c.4804G>A (p.Val1602Ile) rs774541167
NM_006231.4(POLE):c.4828C>A (p.Pro1610Thr)
NM_006231.4(POLE):c.4835G>A (p.Cys1612Tyr)
NM_006231.4(POLE):c.4844A>G (p.Asp1615Gly)
NM_006231.4(POLE):c.4850T>G (p.Ile1617Ser)
NM_006231.4(POLE):c.4853A>G (p.Asn1618Ser)
NM_006231.4(POLE):c.4867G>A (p.Asp1623Asn)
NM_006231.4(POLE):c.4889G>T (p.Arg1630Leu)
NM_006231.4(POLE):c.4892G>T (p.Arg1631Leu) rs775590365
NM_006231.4(POLE):c.4901G>C (p.Arg1634Pro)
NM_006231.4(POLE):c.4903C>T (p.His1635Tyr)
NM_006231.4(POLE):c.4928_4931dup (p.Gln1645fs) rs1593730668
NM_006231.4(POLE):c.4933C>T (p.Gln1645Ter) rs1593730641
NM_006231.4(POLE):c.4942G>T (p.Glu1648Ter)
NM_006231.4(POLE):c.4945A>G (p.Met1649Val) rs1565937350
NM_006231.4(POLE):c.4949G>T (p.Ser1650Ile)
NM_006231.4(POLE):c.4953-2A>G
NM_006231.4(POLE):c.4953-4G>A rs1431909132
NM_006231.4(POLE):c.4953G>A (p.Arg1651=)
NM_006231.4(POLE):c.4957T>G (p.Phe1653Val)
NM_006231.4(POLE):c.4959del (p.His1654fs) rs1555222526
NM_006231.4(POLE):c.497_525del (p.Val166fs)
NM_006231.4(POLE):c.4982C>G (p.Pro1661Arg)
NM_006231.4(POLE):c.4985A>G (p.Glu1662Gly)
NM_006231.4(POLE):c.4993T>A (p.Ser1665Thr)
NM_006231.4(POLE):c.4996A>T (p.Thr1666Ser)
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453
NM_006231.4(POLE):c.500G>A (p.Arg167Lys)
NM_006231.4(POLE):c.5024G>A (p.Arg1675His)
NM_006231.4(POLE):c.5036G>A (p.Arg1679His)
NM_006231.4(POLE):c.5036G>C (p.Arg1679Pro)
NM_006231.4(POLE):c.5059T>A (p.Ser1687Thr)
NM_006231.4(POLE):c.505G>A (p.Glu169Lys)
NM_006231.4(POLE):c.5072G>A (p.Arg1691His)
NM_006231.4(POLE):c.5074C>T (p.Pro1692Ser)
NM_006231.4(POLE):c.5080C>G (p.Leu1694Val)
NM_006231.4(POLE):c.5083G>C (p.Gly1695Arg)
NM_006231.4(POLE):c.5090dup (p.Glu1698fs) rs1593729546
NM_006231.4(POLE):c.5095G>C (p.Ala1699Pro)
NM_006231.4(POLE):c.5103_5173+29del rs1565936576
NM_006231.4(POLE):c.5124C>G (p.Phe1708Leu)
NM_006231.4(POLE):c.5131C>G (p.Gln1711Glu)
NM_006231.4(POLE):c.5137A>G (p.Thr1713Ala)
NM_006231.4(POLE):c.5138C>A (p.Thr1713Asn)
NM_006231.4(POLE):c.5149A>C (p.Asn1717His)
NM_006231.4(POLE):c.5156C>G (p.Ser1719Ter)
NM_006231.4(POLE):c.515C>G (p.Pro172Arg)
NM_006231.4(POLE):c.5166C>G (p.Tyr1722Ter)
NM_006231.4(POLE):c.5170A>C (p.Thr1724Pro)
NM_006231.4(POLE):c.5173+2T>C rs1593729195
NM_006231.4(POLE):c.5173+6T>A
NM_006231.4(POLE):c.5174-2A>G
NM_006231.4(POLE):c.5174-4G>C rs1593728370
NM_006231.4(POLE):c.5179G>A (p.Val1727Met)
NM_006231.4(POLE):c.5179G>T (p.Val1727Leu)
NM_006231.4(POLE):c.5191C>T (p.Leu1731Phe)
NM_006231.4(POLE):c.5196_5209del (p.Asn1733fs)
NM_006231.4(POLE):c.5203G>T (p.Ala1735Ser)
NM_006231.4(POLE):c.520G>A (p.Val174Met)
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160
NM_006231.4(POLE):c.522_524GAA[2] (p.Lys176del) rs1060500793
NM_006231.4(POLE):c.5233del (p.Val1745fs) rs1426234144
NM_006231.4(POLE):c.5239G>A (p.Asp1747Asn)
NM_006231.4(POLE):c.5242A>G (p.Met1748Val)
NM_006231.4(POLE):c.5248G>A (p.Gly1750Arg) rs1593728023
NM_006231.4(POLE):c.5254G>A (p.Asp1752Asn)
NM_006231.4(POLE):c.5254G>C (p.Asp1752His)
NM_006231.4(POLE):c.5263G>C (p.Gly1755Arg)
NM_006231.4(POLE):c.5264G>T (p.Gly1755Val)
NM_006231.4(POLE):c.5269_5283del (p.Ser1757_Ile1761del) rs1593727801
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile) rs878854882
NM_006231.4(POLE):c.5273T>A (p.Phe1758Tyr)
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795
NM_006231.4(POLE):c.5279T>C (p.Val1760Ala)
NM_006231.4(POLE):c.5284C>T (p.Gln1762Ter) rs767221835
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.4(POLE):c.52G>A (p.Glu18Lys)
NM_006231.4(POLE):c.5302G>T (p.Asp1768Tyr)
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766
NM_006231.4(POLE):c.5316_5317del (p.Gly1773fs) rs1593727638
NM_006231.4(POLE):c.5318G>A (p.Gly1773Asp)
NM_006231.4(POLE):c.532A>G (p.Arg178Gly)
NM_006231.4(POLE):c.5359del (p.Leu1787fs)
NM_006231.4(POLE):c.5362T>A (p.Cys1788Ser)
NM_006231.4(POLE):c.5364_5365CT[1] (p.Cys1788_Ser1789insTer)
NM_006231.4(POLE):c.5371A>G (p.Thr1791Ala)
NM_006231.4(POLE):c.537_542del (p.Glu179_Gln180del) rs1593085033
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048
NM_006231.4(POLE):c.5410A>G (p.Lys1804Glu)
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter)
NM_006231.4(POLE):c.5429A>T (p.His1810Leu) rs777390504
NM_006231.4(POLE):c.5441C>T (p.Ala1814Val)
NM_006231.4(POLE):c.544C>T (p.His182Tyr)
NM_006231.4(POLE):c.5463C>A (p.Phe1821Leu)
NM_006231.4(POLE):c.5477G>C (p.Arg1826Pro)
NM_006231.4(POLE):c.5477G>T (p.Arg1826Leu)
NM_006231.4(POLE):c.5497C>T (p.His1833Tyr)
NM_006231.4(POLE):c.5513A>G (p.His1838Arg)
NM_006231.4(POLE):c.5534T>C (p.Met1845Thr)
NM_006231.4(POLE):c.5535G>A (p.Met1845Ile)
NM_006231.4(POLE):c.5537A>T (p.Lys1846Met)
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.5552A>G (p.Gln1851Arg)
NM_006231.4(POLE):c.5553G>A (p.Gln1851=)
NM_006231.4(POLE):c.5553G>T (p.Gln1851His)
NM_006231.4(POLE):c.5561C>T (p.Ala1854Val)
NM_006231.4(POLE):c.5562T>C (p.Ala1854=) rs1174721130
NM_006231.4(POLE):c.5573G>A (p.Arg1858His) rs1445288473
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) rs184253572
NM_006231.4(POLE):c.5578G>A (p.Gly1860Arg)
NM_006231.4(POLE):c.5578_5583del (p.Gly1860_Ser1861del)
NM_006231.4(POLE):c.5590A>G (p.Ile1864Val)
NM_006231.4(POLE):c.5590_5592dup (p.Ile1864dup) rs1593719801
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr) rs896266569
NM_006231.4(POLE):c.5600_5602del (p.Asn1867_Phe1868delinsIle)
NM_006231.4(POLE):c.5606A>G (p.Asn1869Ser)
NM_006231.4(POLE):c.5621_5622del (p.Cys1874fs)
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558
NM_006231.4(POLE):c.5641G>T (p.Glu1881Ter) rs1593719605
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr) rs1565931961
NM_006231.4(POLE):c.5650A>G (p.Ile1884Val)
NM_006231.4(POLE):c.5659G>C (p.Val1887Leu)
NM_006231.4(POLE):c.5679-5T>G
NM_006231.4(POLE):c.5696C>A (p.Thr1899Asn)
NM_006231.4(POLE):c.56C>T (p.Ala19Val)
NM_006231.4(POLE):c.5721C>A (p.Phe1907Leu)
NM_006231.4(POLE):c.5722T>A (p.Ser1908Thr)
NM_006231.4(POLE):c.5729del (p.Cys1910fs)
NM_006231.4(POLE):c.5747G>A (p.Trp1916Ter)
NM_006231.4(POLE):c.5759C>T (p.Ser1920Phe)
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261
NM_006231.4(POLE):c.5765A>G (p.Tyr1922Cys)
NM_006231.4(POLE):c.5773A>C (p.Ile1925Leu)
NM_006231.4(POLE):c.5773A>G (p.Ile1925Val)
NM_006231.4(POLE):c.5776A>G (p.Lys1926Glu)
NM_006231.4(POLE):c.578+1G>T
NM_006231.4(POLE):c.578+3A>G rs1593084889
NM_006231.4(POLE):c.5786T>C (p.Val1929Ala)
NM_006231.4(POLE):c.5789C>T (p.Ser1930Leu)
NM_006231.4(POLE):c.579-2A>G
NM_006231.4(POLE):c.579-3T>C rs1593082215
NM_006231.4(POLE):c.579-5C>A
NM_006231.4(POLE):c.5811+1G>A
NM_006231.4(POLE):c.5811+4A>G
NM_006231.4(POLE):c.5812-1G>A rs1296022681
NM_006231.4(POLE):c.5812-1G>T
NM_006231.4(POLE):c.5827G>T (p.Ala1943Ser)
NM_006231.4(POLE):c.5837C>A (p.Ala1946Glu)
NM_006231.4(POLE):c.5839G>C (p.Glu1947Gln)
NM_006231.4(POLE):c.5859G>C (p.Glu1953Asp)
NM_006231.4(POLE):c.5860G>A (p.Asp1954Asn)
NM_006231.4(POLE):c.5872G>A (p.Glu1958Lys)
NM_006231.4(POLE):c.587A>C (p.Gln196Pro)
NM_006231.4(POLE):c.5892_5906del (p.Glu1965_Glu1969del)
NM_006231.4(POLE):c.5895_5896delinsGGAAC (p.Ala1967_Glu1968insGln) rs1593712239
NM_006231.4(POLE):c.5895_5896delinsGGAC (p.Glu1966fs) rs1593712239
NM_006231.4(POLE):c.5907A>T (p.Glu1969Asp)
NM_006231.4(POLE):c.5913C>G (p.Asn1971Lys)
NM_006231.4(POLE):c.5914G>C (p.Val1972Leu)
NM_006231.4(POLE):c.5917G>T (p.Glu1973Ter)
NM_006231.4(POLE):c.5934C>A (p.Asn1978Lys)
NM_006231.4(POLE):c.5949G>T (p.Leu1983Phe)
NM_006231.4(POLE):c.5958_5959del (p.Leu1986fs)
NM_006231.4(POLE):c.5965G>A (p.Ala1989Thr)
NM_006231.4(POLE):c.5965G>C (p.Ala1989Pro)
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu)
NM_006231.4(POLE):c.5C>G (p.Ser2Cys)
NM_006231.4(POLE):c.6004+1G>A
NM_006231.4(POLE):c.6004+3A>T rs1593711821
NM_006231.4(POLE):c.6004+5G>T rs372169366
NM_006231.4(POLE):c.6004+6C>A
NM_006231.4(POLE):c.6005-3C>A
NM_006231.4(POLE):c.6010A>G (p.Ile2004Val)
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.4(POLE):c.6023del (p.Tyr2008fs) rs1593709229
NM_006231.4(POLE):c.6031A>G (p.Met2011Val)
NM_006231.4(POLE):c.6032T>G (p.Met2011Arg)
NM_006231.4(POLE):c.6043C>G (p.Leu2015Val)
NM_006231.4(POLE):c.6048G>T (p.Arg2016Ser)
NM_006231.4(POLE):c.604A>C (p.Thr202Pro)
NM_006231.4(POLE):c.6050G>T (p.Arg2017Leu)
NM_006231.4(POLE):c.6058C>G (p.Pro2020Ala)
NM_006231.4(POLE):c.6073G>C (p.Val2025Leu)
NM_006231.4(POLE):c.6074T>G (p.Val2025Gly)
NM_006231.4(POLE):c.6076A>G (p.Arg2026Gly) rs1593708976
NM_006231.4(POLE):c.608A>T (p.Asp203Val)
NM_006231.4(POLE):c.6091A>G (p.Ser2031Gly)
NM_006231.4(POLE):c.6117_6119delinsTCT (p.Ala2040Leu)
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693
NM_006231.4(POLE):c.6136+3G>A
NM_006231.4(POLE):c.6162T>G (p.Tyr2054Ter)
NM_006231.4(POLE):c.6171T>A (p.Asn2057Lys)
NM_006231.4(POLE):c.6181C>G (p.Gln2061Glu)
NM_006231.4(POLE):c.6185G>A (p.Ser2062Asn)
NM_006231.4(POLE):c.6196A>G (p.Ile2066Val)
NM_006231.4(POLE):c.62+5G>C
NM_006231.4(POLE):c.6202C>T (p.Gln2068Ter) rs1463790683
NM_006231.4(POLE):c.6203A>C (p.Gln2068Pro)
NM_006231.4(POLE):c.6211C>G (p.Gln2071Glu)
NM_006231.4(POLE):c.6211C>T (p.Gln2071Ter) rs775527406
NM_006231.4(POLE):c.6248T>C (p.Leu2083Pro)
NM_006231.4(POLE):c.6251_6252inv (p.Ser2084Leu)
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382
NM_006231.4(POLE):c.6265G>A (p.Val2089Ile)
NM_006231.4(POLE):c.6265G>T (p.Val2089Phe)
NM_006231.4(POLE):c.6279C>T (p.Ser2093=) rs1262321199
NM_006231.4(POLE):c.627G>C (p.Lys209Asn)
NM_006231.4(POLE):c.6284del (p.Leu2095fs) rs1593707735
NM_006231.4(POLE):c.6293A>C (p.Asn2098Thr)
NM_006231.4(POLE):c.62G>A (p.Arg21Lys)
NM_006231.4(POLE):c.63-1G>A
NM_006231.4(POLE):c.63-5C>T rs1593088395
NM_006231.4(POLE):c.6323T>C (p.Val2108Ala)
NM_006231.4(POLE):c.6325T>C (p.Cys2109Arg)
NM_006231.4(POLE):c.6331-8C>T rs769766403
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.633A>G (p.Ile211Met)
NM_006231.4(POLE):c.6368A>C (p.Asn2123Thr)
NM_006231.4(POLE):c.6385C>A (p.Leu2129Met)
NM_006231.4(POLE):c.6392G>A (p.Arg2131His) rs141954509
NM_006231.4(POLE):c.6398T>A (p.Val2133Glu)
NM_006231.4(POLE):c.6400G>A (p.Asp2134Asn)
NM_006231.4(POLE):c.6418G>C (p.Glu2140Gln)
NM_006231.4(POLE):c.642G>T (p.Gln214His)
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451
NM_006231.4(POLE):c.6440C>A (p.Pro2147His)
NM_006231.4(POLE):c.6442T>C (p.Cys2148Arg)
NM_006231.4(POLE):c.6443G>A (p.Cys2148Tyr)
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182
NM_006231.4(POLE):c.6452A>G (p.Tyr2151Cys)
NM_006231.4(POLE):c.645G>T (p.Leu215Phe)
NM_006231.4(POLE):c.6469A>G (p.Ile2157Val)
NM_006231.4(POLE):c.6471C>G (p.Ile2157Met)
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter)
NM_006231.4(POLE):c.6496G>T (p.Asp2166Tyr)
NM_006231.4(POLE):c.6498C>G (p.Asp2166Glu)
NM_006231.4(POLE):c.6504C>G (p.Asp2168Glu)
NM_006231.4(POLE):c.6516C>G (p.Asp2172Glu)
NM_006231.4(POLE):c.6516_6517CT[1] (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6527C>T (p.Ser2176Leu)
NM_006231.4(POLE):c.6531+4_6531+10delinsAGAAGG
NM_006231.4(POLE):c.6531+5G>T
NM_006231.4(POLE):c.6535G>A (p.Gly2179Arg) rs1593696607
NM_006231.4(POLE):c.6538G>A (p.Ala2180Thr)
NM_006231.4(POLE):c.6538del (p.Ala2180fs) rs1566308645
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys) rs1060500872
NM_006231.4(POLE):c.6587C>T (p.Ser2196Phe)
NM_006231.4(POLE):c.6604A>T (p.Thr2202Ser)
NM_006231.4(POLE):c.6610G>C (p.Val2204Leu)
NM_006231.4(POLE):c.6619C>G (p.Leu2207Val)
NM_006231.4(POLE):c.6625AAG[1] (p.Lys2210del)
NM_006231.4(POLE):c.6649C>T (p.Gln2217Ter) rs1593696238
NM_006231.4(POLE):c.6650A>G (p.Gln2217Arg)
NM_006231.4(POLE):c.6657+1G>A rs776085810
NM_006231.4(POLE):c.6658-3C>G
NM_006231.4(POLE):c.6658-7C>A rs531482240
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.4(POLE):c.6671G>A (p.Cys2224Tyr)
NM_006231.4(POLE):c.6671G>T (p.Cys2224Phe)
NM_006231.4(POLE):c.6673C>G (p.Arg2225Gly)
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477
NM_006231.4(POLE):c.6685G>A (p.Glu2229Lys)
NM_006231.4(POLE):c.6691A>G (p.Ser2231Gly)
NM_006231.4(POLE):c.6693C>A (p.Ser2231Arg)
NM_006231.4(POLE):c.6696G>T (p.Met2232Ile)
NM_006231.4(POLE):c.6697C>T (p.Pro2233Ser)
NM_006231.4(POLE):c.6699del (p.Val2234fs)
NM_006231.4(POLE):c.669G>C (p.Glu223Asp)
NM_006231.4(POLE):c.6715G>A (p.Ala2239Thr)
NM_006231.4(POLE):c.6716C>G (p.Ala2239Gly)
NM_006231.4(POLE):c.6726C>G (p.Phe2242Leu)
NM_006231.4(POLE):c.672C>A (p.Tyr224Ter)
NM_006231.4(POLE):c.672C>G (p.Tyr224Ter)
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031
NM_006231.4(POLE):c.6736A>G (p.Ile2246Val)
NM_006231.4(POLE):c.6747+5G>A rs1555300791
NM_006231.4(POLE):c.6747+6C>T
NM_006231.4(POLE):c.6748-1G>A rs1593693662
NM_006231.4(POLE):c.6748-2A>G
NM_006231.4(POLE):c.6748-6C>T rs750255126
NM_006231.4(POLE):c.674A>G (p.Asp225Gly)
NM_006231.4(POLE):c.675T>A (p.Asp225Glu)
NM_006231.4(POLE):c.6770T>C (p.Ile2257Thr)
NM_006231.4(POLE):c.6783T>G (p.Ile2261Met)
NM_006231.4(POLE):c.6784G>A (p.Ala2262Thr)
NM_006231.4(POLE):c.6785C>T (p.Ala2262Val)
NM_006231.4(POLE):c.6790C>T (p.His2264Tyr)
NM_006231.4(POLE):c.679C>T (p.Pro227Ser)
NM_006231.4(POLE):c.67G>T (p.Asp23Tyr)
NM_006231.4(POLE):c.6811C>G (p.Leu2271Val)
NM_006231.4(POLE):c.6812T>C (p.Leu2271Pro)
NM_006231.4(POLE):c.682_684dup (p.Tyr228dup)
NM_006231.4(POLE):c.6836A>G (p.Gln2279Arg)
NM_006231.4(POLE):c.6842A>T (p.Asn2281Ile)
NM_006231.4(POLE):c.6843C>G (p.Asn2281Lys) rs1166482142
NM_006231.4(POLE):c.6845C>G (p.Pro2282Arg)
NM_006231.4(POLE):c.6849G>T (p.Gln2283His)
NM_006231.4(POLE):c.6853G>A (p.Gly2285Ser)
NM_006231.4(POLE):c.686A>C (p.His229Pro)
NM_006231.4(POLE):c.686A>G (p.His229Arg)
NM_006231.4(POLE):c.700A>G (p.Ile234Val) rs779229533
NM_006231.4(POLE):c.704A>T (p.Asp235Val)
NM_006231.4(POLE):c.715del (p.His239fs) rs1593081630
NM_006231.4(POLE):c.71G>A (p.Gly24Asp)
NM_006231.4(POLE):c.720+4A>T rs990057702
NM_006231.4(POLE):c.720+5G>A
NM_006231.4(POLE):c.721-13GT[2] rs752682384
NM_006231.4(POLE):c.749G>A (p.Gly250Glu)
NM_006231.4(POLE):c.74C>A (p.Ala25Asp)
NM_006231.4(POLE):c.76del (p.Thr26fs)
NM_006231.4(POLE):c.773C>A (p.Thr258Asn)
NM_006231.4(POLE):c.778C>A (p.Arg260=)
NM_006231.4(POLE):c.77C>A (p.Thr26Asn)
NM_006231.4(POLE):c.77C>T (p.Thr26Ile)
NM_006231.4(POLE):c.782A>G (p.Asp261Gly)
NM_006231.4(POLE):c.787C>T (p.Leu263Phe)
NM_006231.4(POLE):c.790G>A (p.Val264Ile)
NM_006231.4(POLE):c.797G>T (p.Arg266Leu) rs115786159
NM_006231.4(POLE):c.801+1G>A rs1593080932
NM_006231.4(POLE):c.801+2T>C rs1593080925
NM_006231.4(POLE):c.802-6C>G
NM_006231.4(POLE):c.802-9del
NM_006231.4(POLE):c.802G>A (p.Asp268Asn)
NM_006231.4(POLE):c.804C>T (p.Asp268=) rs1593079711
NM_006231.4(POLE):c.805C>T (p.Pro269Ser)
NM_006231.4(POLE):c.817G>A (p.Ala273Thr)
NM_006231.4(POLE):c.817G>C (p.Ala273Pro)
NM_006231.4(POLE):c.821T>G (p.Phe274Cys) rs1447970531
NM_006231.4(POLE):c.823G>A (p.Asp275Asn)
NM_006231.4(POLE):c.835A>G (p.Thr279Ala)
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.4(POLE):c.852G>C (p.Lys284Asn)
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.4(POLE):c.862G>A (p.Ala288Thr) rs1593079445
NM_006231.4(POLE):c.862G>C (p.Ala288Pro) rs1593079445
NM_006231.4(POLE):c.893A>G (p.Tyr298Cys)
NM_006231.4(POLE):c.896T>G (p.Met299Arg) rs1300891010
NM_006231.4(POLE):c.899del (p.Ile300fs)
NM_006231.4(POLE):c.904G>A (p.Gly302Ser) rs1593079333
NM_006231.4(POLE):c.905del (p.Gly302fs) rs1412241641
NM_006231.4(POLE):c.909+3G>C
NM_006231.4(POLE):c.910-14_910-10delinsGCCCT
NM_006231.4(POLE):c.910-3T>G rs1279665837
NM_006231.4(POLE):c.910-4C>T
NM_006231.4(POLE):c.910-5G>A rs750101293
NM_006231.4(POLE):c.910-5G>T rs750101293
NM_006231.4(POLE):c.922A>G (p.Thr308Ala) rs1593078566
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803
NM_006231.4(POLE):c.946G>C (p.Asp316His) rs1593078482
NM_006231.4(POLE):c.948T>G (p.Asp316Glu) rs762898113
NM_006231.4(POLE):c.979G>C (p.Glu327Gln)
NM_006231.4(POLE):c.989G>T (p.Gly330Val)
NM_006231.4(POLE):c.991C>T (p.Pro331Ser)
NM_006231.4(POLE):c.999dup (p.Val334fs)

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