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.6G>A

rs534524789 
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser)

rs5744760 
NM_006231.3(POLE):c.1008T>C (p.Asn336=)

rs754405980 
NM_006231.3(POLE):c.1012C>A (p.Pro338Thr)

rs1565976008 
NM_006231.3(POLE):c.1014C>T (p.Pro338=)

rs143102561 
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.10211G>C

rs1593077673 
NM_006231.3(POLE):c.102126_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.1041G>T (p.Trp347Cys)

rs1048183984 
NM_006231.3(POLE):c.1046A>G (p.Glu349Gly)

rs1555229230 
NM_006231.3(POLE):c.1050C>T (p.His350=)

rs752171701 
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.1062C>G (p.Thr354=)

rs145245295 
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.1089C>T (p.Asn363=)

rs146639652 
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+2T>G

rs1593077420 
NM_006231.3(POLE):c.1106+7C>A

rs369889926 
NM_006231.3(POLE):c.1106+9G>A

rs746392495 
NM_006231.3(POLE):c.1106+9G>C

rs746392495 
NM_006231.3(POLE):c.11072A>G

rs1565975328 
NM_006231.3(POLE):c.11075C>T

rs1555229152 
NM_006231.3(POLE):c.11076A>G

rs1565975340 
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.1110A>G (p.Pro370=)

rs772386963 
NM_006231.3(POLE):c.1111T>C (p.Phe371Leu)

rs1565975308 
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.1134C>G (p.Val378=)

rs878854839 
NM_006231.3(POLE):c.1137C>T (p.His379=)

rs376333939 
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.1143G>A (p.Leu381=)

rs1555229118 
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.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.1197G>A (p.Ala399=)

rs1000162996 
NM_006231.3(POLE):c.119G>A (p.Trp40Ter)

rs1565981653 
NM_006231.3(POLE):c.1200C>T (p.Pro400=)

rs1330997509 
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>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.1224C>A (p.Leu408=)

rs748536025 
NM_006231.3(POLE):c.1226+13G>A

rs577646338 
NM_006231.3(POLE):c.1226+6G>A

rs1286283864 
NM_006231.3(POLE):c.12272A>T

rs1057517609 
NM_006231.3(POLE):c.12278C>T

rs537816213 
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.1232T>C (p.Val411Ala)

rs1031999052 
NM_006231.3(POLE):c.123G>A (p.Thr41=)

rs5744734 
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.1254T>G (p.Pro418=)

rs1555228650 
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.1260C>T (p.Gly420=)

rs1057523868 
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.1270C>G (p.Leu424Val)

rs483352909 
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.1278G>A (p.Ala426=)

rs1437075270 
NM_006231.3(POLE):c.1280C>T (p.Ala427Val)

rs878854841 
NM_006231.3(POLE):c.1281C>T (p.Ala427=)

rs371586756 
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.1296A>G (p.Leu432=)

rs142624113 
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.1306C>A (p.Pro436Thr)

rs1565973210 
NM_006231.3(POLE):c.1307C>G (p.Pro436Arg)

rs864622766 
NM_006231.3(POLE):c.1308C>T (p.Pro436=)

rs755627156 
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>T (p.Pro441Leu)

rs775340163 
NM_006231.3(POLE):c.1323G>A (p.Pro441=)

rs116573514 
NM_006231.3(POLE):c.1326G>A (p.Glu442=)

rs745411507 
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.1347G>C (p.Thr449=)

rs142373951 
NM_006231.3(POLE):c.1350G>A (p.Glu450=)

rs1555228575 
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+18C>T

rs5744775 
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.1359+9G>A

rs75135381 
NM_006231.3(POLE):c.136010C>G

rs1480904053 
NM_006231.3(POLE):c.136020C>G

rs781212006 
NM_006231.3(POLE):c.13606C>A

rs139836643 
NM_006231.3(POLE):c.13606C>T

rs139836643 
NM_006231.3(POLE):c.13608C>T

rs1555228513 
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.1371G>A (p.Thr457=)

rs753216372 
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.1392C>T (p.Val464=)

rs772578799 
NM_006231.3(POLE):c.1393G>A (p.Ala465Thr)

rs771526654 
NM_006231.3(POLE):c.1405C>G (p.Leu469Val)

rs368303888 
NM_006231.3(POLE):c.1405C>T (p.Leu469=)

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>T (p.Tyr473=)

rs369961557 
NM_006231.3(POLE):c.141del (p.Phe48fs)

rs761329565 
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.1467C>T (p.Pro489=)

rs995585765 
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.1470C>T (p.Asp490=)

rs5744777 
NM_006231.3(POLE):c.1471G>A (p.Glu491Lys)

rs776770625 
NM_006231.3(POLE):c.1473+19G>A

rs1057517628 
NM_006231.3(POLE):c.1473+7A>G

rs1555228439 
NM_006231.3(POLE):c.147413G>A

rs1555228383 
NM_006231.3(POLE):c.14741G>C

rs1565972026 
NM_006231.3(POLE):c.14747C>T

rs1172867643 
NM_006231.3(POLE):c.1478del (p.Leu493fs)

rs760070332 
NM_006231.3(POLE):c.1479G>C (p.Leu493=)

rs1555228372 
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.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.1509C>T (p.Ala503=)

rs1415621480 
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.1533C>T (p.His511=)

rs545378475 
NM_006231.3(POLE):c.1537A>G (p.Asn513Asp)

rs200136603 
NM_006231.3(POLE):c.153G>A (p.Glu51=)

rs762772484 
NM_006231.3(POLE):c.1543A>G (p.Ile515Val)

rs1060500815 
NM_006231.3(POLE):c.1551C>A (p.Pro517=)

rs770117116 
NM_006231.3(POLE):c.1551C>T (p.Pro517=)

rs770117116 
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.1560A>G (p.Gln520=)

rs201841065 
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.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.1584G>A (p.Thr528=)

rs371824210 
NM_006231.3(POLE):c.1586A>G (p.Asp529Gly)

rs1565971720 
NM_006231.3(POLE):c.1587C>T (p.Asp529=)

rs574092762 
NM_006231.3(POLE):c.1588G>A (p.Asp530Asn)

rs753660907 
NM_006231.3(POLE):c.1588_1594delGACGGAC

rs1555228293 
NM_006231.3(POLE):c.1590C>T (p.Asp530=)

rs1040269464 
NM_006231.3(POLE):c.1591G>A (p.Gly531Arg)

rs748489355 
NM_006231.3(POLE):c.1596C>T (p.His532=)

rs114978673 
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>A (p.Thr538=)

rs1060504052 
NM_006231.3(POLE):c.1614C>G (p.Thr538=)

rs1060504052 
NM_006231.3(POLE):c.1617C>T (p.Tyr539=)

rs775930793 
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.1641C>A (p.Leu547=)

rs267603387 
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.1650G>A (p.Gly550=)

rs1060504067 
NM_006231.3(POLE):c.1656C>T (p.Phe552=)

rs1555228270 
NM_006231.3(POLE):c.1657C>T (p.Arg553Cys)

rs878854844 
NM_006231.3(POLE):c.1659C>T (p.Arg553=)

rs1555228265 
NM_006231.3(POLE):c.1662C>T (p.Ser554=)

rs752219944 
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.168713A>G

rs527311638 
NM_006231.3(POLE):c.168716C>G

rs530732187 
NM_006231.3(POLE):c.16873T>G

rs148115738 
NM_006231.3(POLE):c.16874C>G

rs375705244 
NM_006231.3(POLE):c.16874C>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.1695C>A (p.Ala565=)

rs139748472 
NM_006231.3(POLE):c.1695C>T (p.Ala565=)

rs139748472 
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.1704C>T (p.Asp568=)

rs1202536047 
NM_006231.3(POLE):c.1707C>G (p.Phe569Leu)

rs147438050 
NM_006231.3(POLE):c.1707C>T (p.Phe569=)

rs147438050 
NM_006231.3(POLE):c.1708C>A (p.Leu570Met)

rs748807227 
NM_006231.3(POLE):c.1713G>A (p.Leu571=)

rs1555228141 
NM_006231.3(POLE):c.1715A>T (p.Gln572Leu)

rs1555228139 
NM_006231.3(POLE):c.1717C>A (p.Arg573=)

rs373000452 
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.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.1740C>T (p.His580=)

rs114972594 
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.1773G>A (p.Glu591=)

rs767933490 
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.1781C>T (p.Thr594Ile)

rs574033788 
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.179514C>T

rs369023182 
NM_006231.3(POLE):c.17956C>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.1824C>T (p.Ala608=)

rs1555227421 
NM_006231.3(POLE):c.1836C>G (p.Asp612Glu)

rs116456858 
NM_006231.3(POLE):c.1836C>T (p.Asp612=)

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.1851C>T (p.Ile617=)

rs1338582924 
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.185G>A (p.Trp62Ter)

rs1565981538 
NM_006231.3(POLE):c.1861C>T (p.Leu621Phe)

rs945099471 
NM_006231.3(POLE):c.1863C>G (p.Leu621=)

rs767326433 
NM_006231.3(POLE):c.1863C>T (p.Leu621=)

rs767326433 
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys)

rs150564856 
NM_006231.3(POLE):c.1878C>T (p.Asp626=)

rs771910847 
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.1899C>T (p.Asn633=)

rs748584449 
NM_006231.3(POLE):c.1900A>G (p.Ile634Val)

rs757296864 
NM_006231.3(POLE):c.1905C>T (p.Ile635=)

rs145203544 
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.192423_1927del

rs1064795679 
NM_006231.3(POLE):c.19245C>T

rs878854846 
NM_006231.3(POLE):c.19246T>C

rs755311168 
NM_006231.3(POLE):c.19246del

rs758112633 
NM_006231.3(POLE):c.1924C>A (p.Pro642Thr)

rs1178412345 
NM_006231.3(POLE):c.1926C>T (p.Pro642=)

rs779747873 
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.1941C>T (p.Asp647=)

rs766967355 
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>A (p.Arg665=)

rs367902268 
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+10G>A

rs1282226694 
NM_006231.3(POLE):c.2026+14G>T

rs751509566 
NM_006231.3(POLE):c.2026+1G>C

rs768964210 
NM_006231.3(POLE):c.2026+9C>T

rs373790607 
NM_006231.3(POLE):c.2026A>G (p.Met676Val)

rs1447713785 
NM_006231.3(POLE):c.202716A>G

rs1057517614 
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.2043C>T (p.Ser681=)

rs554997781 
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.2061G>A (p.Gln687=)

rs1400021883 
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.207C>G (p.Thr69=)

rs146986360 
NM_006231.3(POLE):c.207C>T (p.Thr69=)

rs146986360 
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile)

rs5744799 
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.2087C>T (p.Pro696Leu)

rs766037063 
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala)

rs5744800 
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser)

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.2091C>A (p.Pro697=)

rs1060504055 
NM_006231.3(POLE):c.2091del (p.Leu698fs)

rs752846614 
NM_006231.3(POLE):c.2091dup (p.Phe699fs)

rs752846614 
NM_006231.3(POLE):c.2097C>T (p.Phe699=)

rs1555227263 
NM_006231.3(POLE):c.2098C>T (p.Pro700Ser)

rs145793634 
NM_006231.3(POLE):c.2106G>T (p.Gly702=)

rs5744801 
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.2128C>T (p.Leu710=)

rs1555227245 
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.2136C>T (p.Arg712=)

rs755810756 
NM_006231.3(POLE):c.2137G>A (p.Glu713Lys)

rs751870998 
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.2148G>A (p.Ala716=)

rs115142739 
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.2154C>T (p.Tyr718=)

rs1057524685 
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.2172G>A (p.Ala724=)

rs372240734 
NM_006231.3(POLE):c.2173+5G>A

rs878854849 
NM_006231.3(POLE):c.2173+9C>T

rs1056554121 
NM_006231.3(POLE):c.2173G>T (p.Asp725Tyr)

rs760942391 
NM_006231.3(POLE):c.217411G>A

rs111570840 
NM_006231.3(POLE):c.217412C>G

rs192222479 
NM_006231.3(POLE):c.217415C>T

rs750771177 
NM_006231.3(POLE):c.21748G>C

rs117409343 
NM_006231.3(POLE):c.21749C>T

rs774092365 
NM_006231.3(POLE):c.2178C>T (p.Tyr726=)

rs915331738 
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.2187A>G (p.Lys729=)

rs1060504065 
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.2193C>T (p.Tyr731=)

rs769596366 
NM_006231.3(POLE):c.2198A>G (p.Lys733Arg)

rs1593790266 
NM_006231.3(POLE):c.21G>A (p.Gly7=)

rs1060504040 
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.2217G>A (p.Val739=)

rs374750963 
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>A (p.Arg749=)

rs751326135 
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.2253C>T (p.Asn751=)

rs1239144686 
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.2262C>T (p.Tyr754=)

rs145337550 
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.2271C>T (p.Thr757=)

rs765532123 
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.2294G>A (p.Arg765His)

rs1555227096 
NM_006231.3(POLE):c.2298C>T (p.Tyr766=)

rs760031526 
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.2316C>T (p.His772=)

rs768883555 
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.23209G>A

rs769834031 
NM_006231.3(POLE):c.23209G>T

rs769834031 
NM_006231.3(POLE):c.2321T>C (p.Val774Ala)

rs771591846 
NM_006231.3(POLE):c.2322G>A (p.Val774=)

rs1057524564 
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.2333A>C (p.Lys778Thr)

rs868832791 
NM_006231.3(POLE):c.2334G>A (p.Lys778=)

rs929596537 
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.2340G>A (p.Ser780=)

rs5744822 
NM_006231.3(POLE):c.2340G>C (p.Ser780=)

rs5744822 
NM_006231.3(POLE):c.2342C>T (p.Ala781Val)

rs1060500855 
NM_006231.3(POLE):c.2343G>A (p.Ala781=)

rs199751241 
NM_006231.3(POLE):c.2343_2345delGGC

rs1064796065 
NM_006231.3(POLE):c.2346C>T (p.Ala782=)

rs114642756 
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.2361C>T (p.Asp787=)

rs1060504070 
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.2364G>A (p.Ala788=)

rs753367995 
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.2389A>G (p.Met797Val)

rs142196181 
NM_006231.3(POLE):c.2389A>T (p.Met797Leu)

rs142196181 
NM_006231.3(POLE):c.2400G>T (p.Leu800=)

rs776882880 
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.2409G>A (p.Ser803=)

rs369150359 
NM_006231.3(POLE):c.2411T>G (p.Leu804Arg)

rs201668507 
NM_006231.3(POLE):c.2418G>A (p.Leu806=)

rs772361015 
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.2427G>A (p.Lys809=)

rs754686646 
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.2442C>T (p.Ser814=)

rs377036799 
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.2463C>T (p.Arg821=)

rs751392565 
NM_006231.3(POLE):c.2465_2467dup (p.Gly823_Ala824insGlu)

rs1237046519 
NM_006231.3(POLE):c.2468+10C>T

rs5744823 
NM_006231.3(POLE):c.2468+19G>A

rs768950827 
NM_006231.3(POLE):c.2468+1G>A

rs1060500806 
NM_006231.3(POLE):c.2468+2dup

rs1555226665 
NM_006231.3(POLE):c.2468+4G>C

rs1555226663 
NM_006231.3(POLE):c.2468G>C (p.Gly823Ala)

rs1593785122 
NM_006231.3(POLE):c.246910G>A

rs1060500870 
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.2481C>T (p.Tyr827=)

rs149513974 
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.249T>C (p.Asp83=)

rs374225370 
NM_006231.3(POLE):c.2502C>T (p.Ile834=)

rs769459883 
NM_006231.3(POLE):c.2503G>A (p.Val835Ile)

rs1013082648 
NM_006231.3(POLE):c.2505C>G (p.Val835=)

rs878854852 
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.252C>T (p.Tyr84=)

rs148838481 
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.2540G>A (p.Arg847Gln)

rs534297483 
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.2550C>T (p.Ile850=)

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.2561+6T>C

rs116231808 
NM_006231.3(POLE):c.25622A>C

rs751662353 
NM_006231.3(POLE):c.25625T>G

rs1461925348 
NM_006231.3(POLE):c.2566C>T (p.Pro856Ser)

rs1555226454 
NM_006231.3(POLE):c.2587G>C (p.Gly863Arg)

rs1593782300 
NM_006231.3(POLE):c.258T>C (p.Phe86=)

rs1555230311 
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.2598C>T (p.Cys866=)

rs765653117 
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.2676C>T (p.Tyr892=)

rs878854853 
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.2694C>T (p.Asn898=)

rs1060504058 
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+2T>C

rs1555226411 
NM_006231.3(POLE):c.2706+5G>A

rs375931088 
NM_006231.3(POLE):c.27072A>G

rs1593777670 
NM_006231.3(POLE):c.27073C>T

rs1555226069 
NM_006231.3(POLE):c.27079G>A

rs1057521516 
NM_006231.3(POLE):c.2707G>T (p.Glu903Ter)

rs1555226066 
NM_006231.3(POLE):c.2709A>G (p.Glu903=)

rs1555226065 
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.2721T>C (p.Asn907=)

rs779005137 
NM_006231.3(POLE):c.2722G>A (p.Asp908Asn)

rs1565958703 
NM_006231.3(POLE):c.2727G>A (p.Gln909=)

rs1555226055 
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.2748G>A (p.Pro916=)

rs756542563 
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.2763C>T (p.Tyr921=)

rs767254003 
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.2781C>T (p.Asn927=)

rs775486303 
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.285+7C>T

rs1555230294 
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.2863C>A

rs1555230255 
NM_006231.3(POLE):c.2863C>T

rs1555230255 
NM_006231.3(POLE):c.2867T>G

rs761992330 
NM_006231.3(POLE):c.2864+3G>A

rs1060500856 
NM_006231.3(POLE):c.2864+8T>C

rs878854856 
NM_006231.3(POLE):c.2864+9C>T

rs780578558 
NM_006231.3(POLE):c.286510T>C

rs774623653 
NM_006231.3(POLE):c.28652A>G

rs867360056 
NM_006231.3(POLE):c.28653C>T

rs1203095918 
NM_006231.3(POLE):c.28653del

rs1555225973 
NM_006231.3(POLE):c.28654T>C

rs1060500840 
NM_006231.3(POLE):c.28658T>C

rs768655308 
NM_006231.3(POLE):c.2872G>A (p.Val958Met)

rs1443635519 
NM_006231.3(POLE):c.2877C>T (p.Phe959=)

rs770453296 
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.2883A>G (p.Glu961=)

rs1555225965 
NM_006231.3(POLE):c.2886C>T (p.Asp962=)

rs757682919 
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.2928C>T (p.Arg976=)

rs5744845 
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.2935C>T (p.Leu979=)

rs56081968 
NM_006231.3(POLE):c.2952C>T (p.Ile984=)

rs1000861691 
NM_006231.3(POLE):c.2958A>G (p.Gln986=)

rs538349768 
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.297C>A (p.Pro99=)

rs962061115 
NM_006231.3(POLE):c.2982C>T (p.Leu994=)

rs771463033 
NM_006231.3(POLE):c.2993C>T (p.Thr998Met)

rs989886155 
NM_006231.3(POLE):c.2994G>A (p.Thr998=)

rs777955589 
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.3045C>T (p.Asp1015=)

rs753809068 
NM_006231.3(POLE):c.3049C>T (p.Leu1017=)

rs371831931 
NM_006231.3(POLE):c.3054C>T (p.Tyr1018=)

rs201249963 
NM_006231.3(POLE):c.3060+1_3060+2dup

rs1593775678 
NM_006231.3(POLE):c.3060+2T>G

rs775843286 
NM_006231.3(POLE):c.3060+7G>T

rs1555225931 
NM_006231.3(POLE):c.3060G>A (p.Lys1020=)

rs878854858 
NM_006231.3(POLE):c.306112G>C

rs779496994 
NM_006231.3(POLE):c.30614C>G

rs201517516 
NM_006231.3(POLE):c.30614C>T

rs201517516 
NM_006231.3(POLE):c.3069C>T (p.Asn1023=)

rs759786460 
NM_006231.3(POLE):c.306G>A (p.Pro102=)

rs759888478 
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.3090C>T (p.Phe1030=)

rs766306895 
NM_006231.3(POLE):c.3094C>T (p.Leu1032Phe)

rs1555225694 
NM_006231.3(POLE):c.3096C>T (p.Leu1032=)

rs200122629 
NM_006231.3(POLE):c.30C>A (p.Arg10=)

rs1555231425 
NM_006231.3(POLE):c.30C>T (p.Arg10=)

rs1555231425 
NM_006231.3(POLE):c.3108C>T (p.Asn1036=)

rs772522635 
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.3126G>A (p.Lys1042=)

rs5744856 
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.3135T>C (p.Asp1045=)

rs748871390 
NM_006231.3(POLE):c.3138C>T (p.Tyr1046=)

rs779628723 
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.3141G>A (p.Gly1047=)

rs368560398 
NM_006231.3(POLE):c.314A>T (p.Tyr105Phe)

rs1451750169 
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.3183C>T (p.Ala1061=)

rs751756901 
NM_006231.3(POLE):c.318T>C (p.Ile106=)

rs770759936 
NM_006231.3(POLE):c.3195A>G (p.Gly1065=)

rs1454076563 
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.321G>A (p.Ala107=)

rs752370920 
NM_006231.3(POLE):c.3228C>T (p.Cys1076=)

rs767929667 
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.3252C>T (p.Pro1084=)

rs556962209 
NM_006231.3(POLE):c.3257G>A (p.Gly1086Asp)

rs1060500778 
NM_006231.3(POLE):c.3258C>T (p.Gly1086=)

rs1555225637 
NM_006231.3(POLE):c.3264T>C (p.Pro1088=)

rs777729097 
NM_006231.3(POLE):c.3265_3275+15dup

rs1555225627 
NM_006231.3(POLE):c.3267C>T (p.Val1089=)

rs1555225636 
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+12_3275+37dup

rs1057517627 
NM_006231.3(POLE):c.3275+14C>G

rs368185422 
NM_006231.3(POLE):c.3275+16A>G

rs5744858 
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.32762A>G

rs1060500838 
NM_006231.3(POLE):c.32763C>G

rs781306395 
NM_006231.3(POLE):c.3278C>G (p.Ala1093Gly)

rs1565954149 
NM_006231.3(POLE):c.3279C>T (p.Ala1093=)

rs1057521217 
NM_006231.3(POLE):c.3291C>T (p.Ala1097=)

rs764562529 
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.3311G>A

rs1555230196 
NM_006231.3(POLE):c.3312A>G

rs1565980363 
NM_006231.3(POLE):c.3313T>C

rs1269825866 
NM_006231.3(POLE):c.3311C>T (p.Thr1104Met)

rs531705054 
NM_006231.3(POLE):c.3312G>A (p.Thr1104=)

rs1026839284 
NM_006231.3(POLE):c.3320A>G (p.Lys1107Arg)

rs1060500800 
NM_006231.3(POLE):c.3321G>A (p.Lys1107=)

rs1332148448 
NM_006231.3(POLE):c.3327T>C (p.Phe1109=)

rs748049159 
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.3363C>T (p.Asp1121=)

rs1057522030 
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.3378+10A>G

rs193075152 
NM_006231.3(POLE):c.3378+15C>T

rs574954983 
NM_006231.3(POLE):c.3378+7G>T

rs755370377 
NM_006231.3(POLE):c.337917G>A

rs907214942 
NM_006231.3(POLE):c.337918C>T

rs1057517632 
NM_006231.3(POLE):c.33798A>C

rs1555225219 
NM_006231.3(POLE):c.3382C>G (p.Leu1128Val)

rs755839896 
NM_006231.3(POLE):c.3384G>A (p.Leu1128=)

rs1555225210 
NM_006231.3(POLE):c.3387T>C (p.Asp1129=)

rs371357642 
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.3396C>T (p.Tyr1132=)

rs1593766726 
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.3411G>A (p.Leu1137=)

rs368920055 
NM_006231.3(POLE):c.3417C>T (p.Ser1139=)

rs762838377 
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.3429G>A (p.Lys1143=)

rs1060504042 
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.3438C>T (p.Thr1146=)

rs1432352196 
NM_006231.3(POLE):c.343G>A (p.Glu115Lys)

rs1565980334 
NM_006231.3(POLE):c.3441C>T (p.Ile1147=)

rs748278223 
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.3459+9G>A

rs745555988 
NM_006231.3(POLE):c.3459G>A (p.Gln1153=)

rs1060500818 
NM_006231.3(POLE):c.34607C>T

rs1555225168 
NM_006231.3(POLE):c.3462A>T (p.Val1154=)

rs756940534 
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.3489C>T (p.His1163=)

rs5744888 
NM_006231.3(POLE):c.3492C>T (p.Pro1164=)

rs754348616 
NM_006231.3(POLE):c.3493G>A (p.Asp1165Asn)

rs575738148 
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.3501G>A (p.Leu1167=)

rs1060504061 
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.3510A>G (p.Lys1170=)

rs1555225146 
NM_006231.3(POLE):c.3510dup (p.Leu1171fs)

rs1555225149 
NM_006231.3(POLE):c.3518A>G (p.Glu1173Gly)

rs762150108 
NM_006231.3(POLE):c.351A>G (p.Ser117=)

rs199773841 
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.3534C>T (p.Tyr1178=)

rs370133842 
NM_006231.3(POLE):c.3539A>G (p.Gln1180Arg)

rs1311314922 
NM_006231.3(POLE):c.3546G>A (p.Lys1182=)

rs1393231299 
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.3582+7G>A

rs558837073 
NM_006231.3(POLE):c.3582+9G>A

rs1057524057 
NM_006231.3(POLE):c.35833C>T

rs371139965 
NM_006231.3(POLE):c.35834C>G

rs977709348 
NM_006231.3(POLE):c.3587C>T (p.Thr1196Met)

rs866237249 
NM_006231.3(POLE):c.3588G>A (p.Thr1196=)

rs771747587 
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.3594C>T (p.Ala1198=)

rs200803943 
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.3614C>T (p.Pro1205Leu)

rs772686048 
NM_006231.3(POLE):c.3615G>A (p.Pro1205=)

rs560825851 
NM_006231.3(POLE):c.3617G>T (p.Arg1206Met)

rs1060500839 
NM_006231.3(POLE):c.3618G>A (p.Arg1206=)

rs888690702 
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.3645C>T (p.Phe1215=)

rs758716323 
NM_006231.3(POLE):c.3646G>A (p.Gly1216Ser)

rs200114024 
NM_006231.3(POLE):c.3651C>G (p.Leu1217=)

rs765445494 
NM_006231.3(POLE):c.3651C>T (p.Leu1217=)

rs765445494 
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>A (p.Lys1232=)

rs546733374 
NM_006231.3(POLE):c.3696G>T (p.Lys1232Asn)

rs546733374 
NM_006231.3(POLE):c.3697C>A (p.Arg1233=)

rs745750549 
NM_006231.3(POLE):c.3698G>A (p.Arg1233Gln)

rs201738371 
NM_006231.3(POLE):c.369G>A (p.Lys123=)

rs1328407908 
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.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.3738G>A (p.Thr1246=)

rs545161424 
NM_006231.3(POLE):c.3740C>T (p.Pro1247Leu)

rs572986717 
NM_006231.3(POLE):c.3741G>A (p.Pro1247=)

rs368978839 
NM_006231.3(POLE):c.3745G>A (p.Val1249Met)

rs762626359 
NM_006231.3(POLE):c.3747G>A (p.Val1249=)

rs80290414 
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.3768G>A (p.Gly1256=)

rs776702809 
NM_006231.3(POLE):c.3777C>T (p.Pro1259=)

rs770904877 
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.378C>A (p.Gly126=)

rs374163231 
NM_006231.3(POLE):c.3795+5G>A

rs1593750763 
NM_006231.3(POLE):c.3795+8_3795+13delinsTGGTGATA

rs1593750735 
NM_006231.3(POLE):c.37965C>T

rs908934016 
NM_006231.3(POLE):c.3796G>A (p.Glu1266Lys)

rs984562653 
NM_006231.3(POLE):c.3801A>G (p.Glu1267=)

rs369436095 
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.3861C>T (p.Leu1287=)

rs761684406 
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.3879G>A (p.Gln1293=)

rs1555223957 
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.3885G>A (p.Leu1295=)

rs758772641 
NM_006231.3(POLE):c.3890C>T (p.Ser1297Leu)

rs746585658 
NM_006231.3(POLE):c.3891G>A (p.Ser1297=)

rs375466233 
NM_006231.3(POLE):c.3891G>T (p.Ser1297=)

rs375466233 
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.3912C>T (p.Pro1304=)

rs116482376 
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.3933T>C (p.Pro1311=)

rs533545710 
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.3939G>A (p.Thr1313=)

rs150282789 
NM_006231.3(POLE):c.3942G>T (p.Gly1314=)

rs1177628476 
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.3975C>T (p.Ser1325=)

rs749011369 
NM_006231.3(POLE):c.3976A>G (p.Ile1326Val)

rs557996561 
NM_006231.3(POLE):c.3978C>T (p.Ile1326=)

rs755659438 
NM_006231.3(POLE):c.3987T>C (p.Leu1329=)

rs1555223929 
NM_006231.3(POLE):c.3989C>T (p.Pro1330Leu)

rs1409584745 
NM_006231.3(POLE):c.3990G>A (p.Pro1330=)

rs777546371 
NM_006231.3(POLE):c.3997A>G (p.Ile1333Val)

rs751467689 
NM_006231.3(POLE):c.3999T>A (p.Ile1333=)

rs929039052 
NM_006231.3(POLE):c.399T>C (p.Thr133=)

rs202102690 
NM_006231.3(POLE):c.3G>A (p.Met1Ile)

rs1555231433 
NM_006231.3(POLE):c.4005+20G>A

rs775205537 
NM_006231.3(POLE):c.4005+8C>A

rs762723589 
NM_006231.3(POLE):c.4005+9C>A

rs368874247 
NM_006231.3(POLE):c.40061G>T

rs1057519256 
NM_006231.3(POLE):c.40062A>T

rs1593748950 
NM_006231.3(POLE):c.40063C>A

rs1593748957 
NM_006231.3(POLE):c.40063C>T

rs1593748957 
NM_006231.3(POLE):c.40068C>A

rs745486661 
NM_006231.3(POLE):c.4011C>T (p.Ser1337=)

rs756716850 
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.4020C>T (p.Ser1340=)

rs961050579 
NM_006231.3(POLE):c.4024G>A (p.Ala1342Thr)

rs1301501264 
NM_006231.3(POLE):c.4026C>T (p.Ala1342=)

rs764030317 
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.4047G>A (p.Ala1349=)

rs201746181 
NM_006231.3(POLE):c.404C>A (p.Pro135His)

rs1565980234 
NM_006231.3(POLE):c.4050C>T (p.Leu1350=)

rs764888601 
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.4101C>T (p.Tyr1367=)

rs780694561 
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.4116C>T (p.Val1372=)

rs1171373480 
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.4125G>A (p.Ala1375=)

rs374210113 
NM_006231.3(POLE):c.4125G>T (p.Ala1375=)

rs374210113 
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.4137T>C (p.Ala1379=)

rs1555223836 
NM_006231.3(POLE):c.4139C>T (p.Ser1380Leu)

rs762090058 
NM_006231.3(POLE):c.4140G>A (p.Ser1380=)

rs199851128 
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+12C>G

rs566422403 
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.4149+9G>A

rs1478720555 
NM_006231.3(POLE):c.414T>G (p.Asp138Glu)

rs1593085852 
NM_006231.3(POLE):c.415012T>C

rs551697046 
NM_006231.3(POLE):c.415013G>A

rs780409701 
NM_006231.3(POLE):c.41501G>C

rs1372928198 
NM_006231.3(POLE):c.41505G>A

rs771624962 
NM_006231.3(POLE):c.41506C>T

rs756837862 
NM_006231.3(POLE):c.41508C>A

rs760355462 
NM_006231.3(POLE):c.41508C>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.4158G>A (p.Arg1386=)

rs1473134331 
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.4185C>T (p.Tyr1395=)

rs1221858843 
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>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.423+20T>C

rs201628896 
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.4236C>T (p.Asn1412=)

rs377245595 
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys)

rs372901803 
NM_006231.3(POLE):c.42410C>T

rs748433747 
NM_006231.3(POLE):c.4242A>G

rs1555230117 
NM_006231.3(POLE):c.4249G>A

rs1060504074 
NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser)

rs748378612 
NM_006231.3(POLE):c.4245C>T (p.Asn1415=)

rs778896278 
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.4259C>T (p.Ala1420Val)

rs41561818 
NM_006231.3(POLE):c.4260G>A (p.Ala1420=)

rs750810969 
NM_006231.3(POLE):c.4267A>G (p.Ile1423Val)

rs139498590 
NM_006231.3(POLE):c.4269C>T (p.Ile1423=)

rs761413102 
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.4290+5C>T

rs5744936 
NM_006231.3(POLE):c.429111G>A

rs369564167 
NM_006231.3(POLE):c.42917C>A

rs1060504076 
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.4296G>A (p.Pro1432=)

rs777949353 
NM_006231.3(POLE):c.42C>A (p.Gly14=)

rs934764678 
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.4308G>C (p.Arg1436=)

rs367898059 
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.4341C>T (p.Val1447=)

rs878854870 
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.4353G>A (p.Leu1451=)

rs769149466 
NM_006231.3(POLE):c.4354G>A (p.Val1452Met)

rs1274067515 
NM_006231.3(POLE):c.4356G>A (p.Val1452=)

rs1060504066 
NM_006231.3(POLE):c.4357A>C (p.Arg1453=)

rs1057524305 
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.4380A>G (p.Ala1460=)

rs758830037 
NM_006231.3(POLE):c.4385C>T (p.Thr1462Ile)

rs747856376 
NM_006231.3(POLE):c.4386C>T (p.Thr1462=)

rs1555222988 
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.4419G>C (p.Leu1473=)

rs1555222975 
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+10G>T

rs761312129 
NM_006231.3(POLE):c.4444+3A>G

rs398122515 
NM_006231.3(POLE):c.4444+9T>C

rs1060504072 
NM_006231.3(POLE):c.4444G>C (p.Gly1482Arg)

rs759703428 
NM_006231.3(POLE):c.444510C>T

rs1057522514 
NM_006231.3(POLE):c.44452A>C

rs766538692 
NM_006231.3(POLE):c.44453C>T

rs1555222948 
NM_006231.3(POLE):c.44457T>C

rs754001064 
NM_006231.3(POLE):c.4449T>C (p.Ser1483=)

rs1057521430 
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.4455C>T (p.Arg1485=)

rs750833365 
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.4464C>T (p.Tyr1488=)

rs1555222919 
NM_006231.3(POLE):c.446A>G (p.Lys149Arg)

rs374428362 
NM_006231.3(POLE):c.4473C>T (p.His1491=)

rs774898453 
NM_006231.3(POLE):c.4476C>A (p.His1492Gln)

rs5744943 
NM_006231.3(POLE):c.4476C>T (p.His1492=)

rs5744943 
NM_006231.3(POLE):c.4477G>T (p.Ala1493Ser)

rs748522633 
NM_006231.3(POLE):c.4480C>G (p.Gln1494Glu)

rs1443837551 
NM_006231.3(POLE):c.4485C>G (p.Ala1495=)

rs878854872 
NM_006231.3(POLE):c.448C>T (p.Arg150Ter)

rs775815329 
NM_006231.3(POLE):c.4490A>G (p.Lys1497Arg)

rs557957962 
NM_006231.3(POLE):c.4493C>T (p.Ala1498Val)

rs751465593 
NM_006231.3(POLE):c.4494G>A (p.Ala1498=)

rs777611171 
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.4500C>T (p.Phe1500=)

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.4527G>A (p.Arg1509=)

rs767676720 
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.4533C>T (p.Ser1511=)

rs1057523672 
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+2_4551+3delTG

rs1251654299 
NM_006231.3(POLE):c.4551+3G>A

rs1565938943 
NM_006231.3(POLE):c.4551+8C>T

rs1555222872 
NM_006231.3(POLE):c.4551T>G (p.Thr1517=)

rs1033333357 
NM_006231.3(POLE):c.455210G>A

rs5744946 
NM_006231.3(POLE):c.455210G>T

rs5744946 
NM_006231.3(POLE):c.45524C>G

rs913720556 
NM_006231.3(POLE):c.45525T>A

rs1064795991 
NM_006231.3(POLE):c.45527G>T

rs751714913 
NM_006231.3(POLE):c.45529T>C

rs1432965677 
NM_006231.3(POLE):c.45529T>G

rs1432965677 
NM_006231.3(POLE):c.4554G>A (p.Val1518=)

rs1555222799 
NM_006231.3(POLE):c.4555C>T (p.Arg1519Cys)

rs542430685 
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.4568T>C (p.Met1523Thr)

rs529080029 
NM_006231.3(POLE):c.4574G>C (p.Ser1525Thr)

rs1593732744 
NM_006231.3(POLE):c.4581C>T (p.Gly1527=)

rs772646117 
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.4585C>T (p.Leu1529=)

rs1060504041 
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.45G>A (p.Ala15=)

rs1314665962 
NM_006231.3(POLE):c.4600C>T (p.His1534Tyr)

rs1593732620 
NM_006231.3(POLE):c.4602C>T (p.His1534=)

rs749126952 
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.4608C>T (p.Leu1536=)

rs1462826498 
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.4632G>A (p.Glu1544=)

rs1555222727 
NM_006231.3(POLE):c.4635C>T (p.Leu1545=)

rs199945393 
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.4644C>T (p.Pro1548=)

rs1555222721 
NM_006231.3(POLE):c.4645C>A (p.Pro1549Thr)

rs147500308 
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala)

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.4647C>T (p.Pro1549=)

rs1004972253 
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.4659C>T (p.Phe1553=)

rs767021717 
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.4668G>T (p.Arg1556=)

rs1555222702 
NM_006231.3(POLE):c.4677T>G (p.Thr1559=)

rs1329248039 
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.4689C>T (p.Thr1563=)

rs1057522743 
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.4701C>T (p.Ala1567=)

rs1060504060 
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.4716G>A (p.Leu1572=)

rs138782478 
NM_006231.3(POLE):c.4716G>C (p.Leu1572=)

rs138782478 
NM_006231.3(POLE):c.4719C>T (p.Leu1573=)

rs115219846 
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.4728+10G>A

rs1237098723 
NM_006231.3(POLE):c.4728+14_4728+21del

rs1311664292 
NM_006231.3(POLE):c.4728G>A (p.Lys1576=)

rs1555222662 
NM_006231.3(POLE):c.47297G>C

rs768719788 
NM_006231.3(POLE):c.47298T>C

rs759376994 
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.4737C>A (p.Arg1579=)

rs774453650 
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.4744C>T (p.Pro1582Ser)

rs556887600 
NM_006231.3(POLE):c.4745C>A (p.Pro1582His)

rs1555222617 
NM_006231.3(POLE):c.4749A>G (p.Thr1583=)

rs878854877 
NM_006231.3(POLE):c.4755C>T (p.Ile1585=)

rs540172985 
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.4779G>T (p.Leu1593=)

rs542995085 
NM_006231.3(POLE):c.477T>C (p.Thr159=)

rs377652373 
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.4827G>A (p.Val1609=)

rs770382974 
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.4845C>T (p.Asp1615=)

rs1060504046 
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.4872G>A (p.Trp1624Ter)

rs754982151 
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.4878C>T (p.Arg1626=)

rs1294064987 
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.4892G>A (p.Arg1631His)

rs775590365 
NM_006231.3(POLE):c.4894A>G (p.Met1632Val)

rs1565937490 
NM_006231.3(POLE):c.4899C>T (p.Ile1633=)

rs1555222570 
NM_006231.3(POLE):c.48T>C (p.Asp16=)

rs1057523833 
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.4932G>A (p.Ser1644=)

rs1057522607 
NM_006231.3(POLE):c.4932G>T (p.Ser1644=)

rs1057522607 
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.4941C>T (p.Phe1647=)

rs145639967 
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+10G>A

rs376828693 
NM_006231.3(POLE):c.4952+11T>A

rs779889181 
NM_006231.3(POLE):c.4952+13C>T

rs1057517612 
NM_006231.3(POLE):c.4952+17C>T

rs750268044 
NM_006231.3(POLE):c.4952+17_4952+19dupCGT

rs571641918 
NM_006231.3(POLE):c.4952+4A>G

rs962068207 
NM_006231.3(POLE):c.4952+5G>A

rs1555222548 
NM_006231.3(POLE):c.4952+9A>G

rs1555222544 
NM_006231.3(POLE):c.495310C>G

rs1060504059 
NM_006231.3(POLE):c.4959dup (p.His1654fs)

rs1555222526 
NM_006231.3(POLE):c.4962C>T (p.His1654=)

rs1555222521 
NM_006231.3(POLE):c.4963A>G (p.Ile1655Val)

rs1060500876 
NM_006231.3(POLE):c.4965T>C (p.Ile1655=)

rs751304582 
NM_006231.3(POLE):c.4970T>C (p.Ile1657Thr)

rs1060500827 
NM_006231.3(POLE):c.4971T>C (p.Ile1657=)

rs1555222518 
NM_006231.3(POLE):c.4983A>G (p.Pro1661=)

rs878854880 
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.4995C>T (p.Ser1665=)

rs766531363 
NM_006231.3(POLE):c.49G>A (p.Gly17Ser)

rs1243827536 
NM_006231.3(POLE):c.5001C>T (p.Phe1667=)

rs112358554 
NM_006231.3(POLE):c.5003G>T (p.Gly1668Val)

rs368735471 
NM_006231.3(POLE):c.5007C>T (p.Ser1669=)

rs146761597 
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.5035C>T (p.Arg1679Cys)

rs768244569 
NM_006231.3(POLE):c.5037C>A (p.Arg1679=)

rs1057523897 
NM_006231.3(POLE):c.5044C>T (p.His1682Tyr)

rs774930613 
NM_006231.3(POLE):c.5046C>T (p.His1682=)

rs769284070 
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.5085T>C (p.Gly1695=)

rs755191548 
NM_006231.3(POLE):c.5088A>G (p.Gly1696=)

rs1555222476 
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.5106C>T (p.Asn1702=)

rs116001373 
NM_006231.3(POLE):c.5108G>C (p.Cys1703Ser)

rs961736994 
NM_006231.3(POLE):c.510C>A (p.Ile170=)

rs374074035 
NM_006231.3(POLE):c.510C>T (p.Ile170=)

rs374074035 
NM_006231.3(POLE):c.5112T>A (p.Leu1704=)

rs1555222458 
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.5121G>T (p.Glu1707Asp)

rs750460626 
NM_006231.3(POLE):c.5124C>T (p.Phe1708=)

rs114891564 
NM_006231.3(POLE):c.5125G>A (p.Asp1709Asn)

rs572502366 
NM_006231.3(POLE):c.5130C>T (p.Asp1710=)

rs1340452589 
NM_006231.3(POLE):c.5131C>A (p.Gln1711Lys)

rs774619692 
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val)

rs5744950 
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.5148C>T (p.Ile1716=)

rs1060504054 
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.516T>G (p.Pro172=)

rs768997534 
NM_006231.3(POLE):c.5173+10C>G

rs371098994 
NM_006231.3(POLE):c.5173+10C>T

rs371098994 
NM_006231.3(POLE):c.5173+17A>G

rs368209692 
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.5173+9G>A

rs1555222421 
NM_006231.3(POLE):c.517417G>A

rs201254290 
NM_006231.3(POLE):c.51741G>T

rs5744954 
NM_006231.3(POLE):c.51742A>C

rs1036643774 
NM_006231.3(POLE):c.51743C>T

rs878854881 
NM_006231.3(POLE):c.51746G>C

rs770466844 
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.5181G>A (p.Val1727=)

rs1057523212 
NM_006231.3(POLE):c.5184G>A (p.Glu1728=)

rs1555222373 
NM_006231.3(POLE):c.5189A>G (p.Asp1730Gly)

rs1565936260 
NM_006231.3(POLE):c.5199C>T (p.Asn1733=)

rs773214571 
NM_006231.3(POLE):c.519C>T (p.Ala173=)

rs187690610 
NM_006231.3(POLE):c.51C>G (p.Gly17=)

rs780436496 
NM_006231.3(POLE):c.5205C>T (p.Ala1735=)

rs778829972 
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.5220C>T (p.Leu1740=)

rs746085748 
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.5238C>T (p.Asn1746=)

rs200128464 
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.5253C>T (p.Ala1751=)

rs765888059 
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.5271C>T (p.Ser1757=)

rs1555222331 
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.5313G>A (p.Thr1771=)

rs201803493 
NM_006231.3(POLE):c.5313G>T (p.Thr1771=)

rs201803493 
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.5334C>T (p.Ala1778=)

rs11146986 
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.5337G>A (p.Pro1779=)

rs749991080 
NM_006231.3(POLE):c.5339C>G (p.Ala1780Gly)

rs1024088828 
NM_006231.3(POLE):c.5340C>T (p.Ala1780=)

rs1291600656 
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.5346C>T (p.Tyr1782=)

rs761902063 
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.5364C>T (p.Cys1788=)

rs5744955 
NM_006231.3(POLE):c.5367dup (p.Asn1790Ter)

rs959133191 
NM_006231.3(POLE):c.5376C>T (p.Phe1792=)

rs1555222243 
NM_006231.3(POLE):c.5378+5C>T

rs1171630569 
NM_006231.3(POLE):c.5378+6A>G

rs1380872711 
NM_006231.3(POLE):c.537919C>T

rs376722984 
NM_006231.3(POLE):c.53793C>A

rs1415497701 
NM_006231.3(POLE):c.53793C>G

rs1415497701 
NM_006231.3(POLE):c.53795T>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.5397C>T (p.Val1799=)

rs770069897 
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.5412G>A (p.Lys1804=)

rs144218410 
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.5454G>A (p.Val1818=)

rs1046972573 
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.546C>T (p.His182=)

rs115257501 
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.5478G>A (p.Arg1826=)

rs537648186 
NM_006231.3(POLE):c.5478G>T (p.Arg1826=)

rs537648186 
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.5481G>A (p.Ser1827=)

rs775867327 
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.5496T>C (p.Leu1832=)

rs147543146 
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.5502C>T (p.Asp1834=)

rs1555221903 
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.5529C>T (p.Asn1843=)

rs766130096 
NM_006231.3(POLE):c.552C>T (p.Ser184=)

rs878854884 
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.5542C>T (p.Leu1848Phe)

rs201001790 
NM_006231.3(POLE):c.5549T>A (p.Leu1850Gln)

rs1565932919 
NM_006231.3(POLE):c.55531G>A

rs1064796152 
NM_006231.3(POLE):c.55536C>T

rs1555221787 
NM_006231.3(POLE):c.5558T>C (p.Ile1853Thr)

rs1057519257 
NM_006231.3(POLE):c.5559C>T (p.Ile1853=)

rs1032264693 
NM_006231.3(POLE):c.555C>T (p.Asp185=)

rs763871536 
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.5565G>A (p.Glu1855=)

rs1555221780 
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>G (p.Lys1857Arg)

rs5744971 
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.5583A>C (p.Ser1861=)

rs5744972 
NM_006231.3(POLE):c.558G>A (p.Ala186=)

rs764758303 
NM_006231.3(POLE):c.558G>C (p.Ala186=)

rs764758303 
NM_006231.3(POLE):c.5595C>T (p.Tyr1865=)

rs370958363 
NM_006231.3(POLE):c.5596G>A (p.Ala1866Thr)

rs377662540 
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.5616C>T (p.Ile1872=)

rs778941198 
NM_006231.3(POLE):c.5617C>A (p.Leu1873Ile)

rs1593719698 
NM_006231.3(POLE):c.561C>T (p.Tyr187=)

rs143938822 
NM_006231.3(POLE):c.5625A>G (p.Thr1875=)

rs1555221765 
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.5652C>T (p.Ile1884=)

rs567300887 
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.5655T>C (p.Ala1885=)

rs761429503 
NM_006231.3(POLE):c.5658C>A (p.Tyr1886Ter)

rs369346799 
NM_006231.3(POLE):c.5658C>T (p.Tyr1886=)

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.5670C>T (p.Ile1890=)

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+4C>T

rs5744973 
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.567914T>C

rs1555221517 
NM_006231.3(POLE):c.56793C>T

rs1555221512 
NM_006231.3(POLE):c.5685T>C (p.His1895=)

rs745896415 
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.5697C>T (p.Thr1899=)

rs751997713 
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.5726G>A (p.Arg1909Gln)

rs201455049 
NM_006231.3(POLE):c.5730C>G (p.Cys1910Trp)

rs549163600 
NM_006231.3(POLE):c.5730C>T (p.Cys1910=)

rs549163600 
NM_006231.3(POLE):c.5736A>G (p.Glu1912=)

rs369755963 
NM_006231.3(POLE):c.5742T>C (p.Leu1914=)

rs541999794 
NM_006231.3(POLE):c.5742_5744delTCT

rs1565930056 
NM_006231.3(POLE):c.5744T>C (p.Leu1915Pro)

rs1593715436 
NM_006231.3(POLE):c.5745C>G (p.Leu1915=)

rs760495946 
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.5757A>G (p.Pro1919=)

rs1426714579 
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.5804G>A (p.Cys1935Tyr)

rs5744991 
NM_006231.3(POLE):c.5809C>G (p.Leu1937Val)

rs1555221482 
NM_006231.3(POLE):c.5811+13C>T

rs150195182 
NM_006231.3(POLE):c.5811+16T>C

rs115381003 
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.5811+7G>A

rs1428729186 
NM_006231.3(POLE):c.5811G>A (p.Leu1937=)

rs368174082 
NM_006231.3(POLE):c.581211_581210del

rs745976640 
NM_006231.3(POLE):c.58124A>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.5862C>T (p.Asp1954=)

rs369929044 
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.5889G>A (p.Glu1963=)

rs1555221209 
NM_006231.3(POLE):c.5889_5894delGGAGGA

rs757774039 
NM_006231.3(POLE):c.588G>T (p.Gln196His)

rs878854886 
NM_006231.3(POLE):c.5898G>A (p.Glu1966=)

rs372044043 
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.5901G>A (p.Ala1967=)

rs200474862 
NM_006231.3(POLE):c.5901_5903GGA[3] (p.Glu1969dup)

rs754275919 
NM_006231.3(POLE):c.5907A>G (p.Glu1969=)

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.5913C>T (p.Asn1971=)

rs532175815 
NM_006231.3(POLE):c.5914G>A (p.Val1972Met)

rs774726229 
NM_006231.3(POLE):c.5916G>A (p.Val1972=)

rs1060504057 
NM_006231.3(POLE):c.5919G>A (p.Glu1973=)

rs1555221205 
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.594C>T (p.Gly198=)

rs140185156 
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.5961A>G (p.Pro1987=)

rs1555221196 
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.5988C>T (p.Phe1996=)

rs756828876 
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.6004+10G>A

rs935178604 
NM_006231.3(POLE):c.6004+11A>G

rs201591857 
NM_006231.3(POLE):c.600510C>G

rs1555221024 
NM_006231.3(POLE):c.6005C>T (p.Ala2002Val)

rs1247397969 
NM_006231.3(POLE):c.6006G>A (p.Ala2002=)

rs146902214 
NM_006231.3(POLE):c.600C>T (p.Val200=)

rs878854888 
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.6018C>T (p.Ala2006=)

rs111709550 
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.6021G>T (p.Val2007=)

rs1057522175 
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.6039C>T (p.Asp2013=)

rs371563366 
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.6045G>A (p.Leu2015=)

rs764220093 
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.6051C>T (p.Arg2017=)

rs1279337096 
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.6063G>A (p.Gly2021=)

rs1255778142 
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.606T>C (p.Thr202=)

rs1555229741 
NM_006231.3(POLE):c.6072C>T (p.Pro2024=)

rs768531930 
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.6097C>G (p.Leu2033Val)

rs779820079 
NM_006231.3(POLE):c.609T>C (p.Asp203=)

rs1057522410 
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.6111C>T (p.Ala2037=)

rs541439106 
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.6120G>A (p.Ala2040=)

rs777260502 
NM_006231.3(POLE):c.6120G>T (p.Ala2040=)

rs777260502 
NM_006231.3(POLE):c.6123C>T (p.Val2041=)

rs754324470 
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.613710A>G

rs754412395 
NM_006231.3(POLE):c.61377C>T

rs1057523210 
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.6162T>C (p.Tyr2054=)

rs1057523175 
NM_006231.3(POLE):c.6165C>T (p.Val2055=)

rs1035847971 
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.6192C>T (p.Phe2064=)

rs1555220905 
NM_006231.3(POLE):c.6195C>T (p.Thr2065=)

rs1060504051 
NM_006231.3(POLE):c.62+10_62+11delinsTT

rs878854889 
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.6201T>C (p.Thr2067=)

rs983980599 
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.6210T>A (p.Ile2070=)

rs139990705 
NM_006231.3(POLE):c.6216G>A (p.Lys2072=)

rs769908943 
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.6246G>A (p.Glu2082=)

rs772402355 
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.6273C>T (p.Pro2091=)

rs767769851 
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.6314C>T

rs373998767 
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.6303C>G (p.Ala2101=)

rs751217923 
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.6321C>T (p.Tyr2107=)

rs201656807 
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.6330+8T>G

rs1060504047 
NM_006231.3(POLE):c.63313C>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.6339C>T (p.Ser2113=)

rs781680187 
NM_006231.3(POLE):c.6340C>T (p.Leu2114=)

rs1165241306 
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.6354C>T (p.Ile2118=)

rs547872135 
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.6385C>T (p.Leu2129=)

rs752303205 
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.6405C>T (p.Val2135=)

rs139607077 
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.6417C>T (p.Ser2139=)

rs766935890 
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys)

rs5745066 
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.6423G>A (p.Glu2141=)

rs1158336340 
NM_006231.3(POLE):c.6424G>A (p.Ala2142Thr)

rs1593697633 
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.6441C>T (p.Pro2147=)

rs1555301216 
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.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.6471C>T (p.Ile2157=)

rs1478004242 
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.6494G>A (p.Arg2165His)

rs5745068 
NM_006231.3(POLE):c.6495C>T (p.Arg2165=)

rs114778730 
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.6507G>A (p.Leu2169=)

rs375256819 
NM_006231.3(POLE):c.6507G>T (p.Leu2169=)

rs375256819 
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.653211G>C

rs372829291 
NM_006231.3(POLE):c.653219G>T

rs201114228 
NM_006231.3(POLE):c.6536_6537delinsCT (p.Gly2179Ala)

rs1060500789 
NM_006231.3(POLE):c.6537G>A (p.Gly2179=)

rs745411511 
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val)

rs552452448 
NM_006231.3(POLE):c.6540G>A (p.Ala2180=)

rs746976542 
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.6576G>A (p.Ala2192=)

rs368555884 
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.6593C>A (p.Ala2198Asp)

rs1555301083 
NM_006231.3(POLE):c.6597C>A (p.Ile2199=)

rs147611144 
NM_006231.3(POLE):c.6597C>T (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.6606G>A (p.Thr2202=)

rs11146982 
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.6628A>C (p.Lys2210Gln)

rs1284697545 
NM_006231.3(POLE):c.662T>C (p.Met221Thr)

rs755607944 
NM_006231.3(POLE):c.6631C>T (p.Leu2211=)

rs769635764 
NM_006231.3(POLE):c.6632T>C (p.Leu2211Pro)

rs1060500848 
NM_006231.3(POLE):c.6639C>G (p.Ala2213=)

rs1060504064 
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>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.6657+7C>G

rs746459362 
NM_006231.3(POLE):c.6657+7C>T

rs746459362 
NM_006231.3(POLE):c.6657+8G>A

rs777791883 
NM_006231.3(POLE):c.6657+9T>C

rs375333174 
NM_006231.3(POLE):c.665812G>C

rs1555300850 
NM_006231.3(POLE):c.665819C>G

rs5745081 
NM_006231.3(POLE):c.66581G>A

rs1555300846 
NM_006231.3(POLE):c.66582A>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.6666G>A (p.Leu2222=)

rs777438368 
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.6675C>G (p.Arg2225=)

rs149973644 
NM_006231.3(POLE):c.6675C>T (p.Arg2225=)

rs149973644 
NM_006231.3(POLE):c.6676G>A (p.Gly2226Arg)

rs766291093 
NM_006231.3(POLE):c.6678G>A (p.Gly2226=)

rs1162754521 
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.6693C>T (p.Ser2231=)

rs1483311551 
NM_006231.3(POLE):c.6694A>G (p.Met2232Val)

rs546982080 
NM_006231.3(POLE):c.6699T>C (p.Pro2233=)

rs1057521409 
NM_006231.3(POLE):c.669G>A (p.Glu223=)

rs1035981192 
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.6714C>T (p.Cys2238=)

rs200082120 
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val)

rs190813054 
NM_006231.3(POLE):c.6726C>T (p.Phe2242=)

rs771312122 
NM_006231.3(POLE):c.6727G>A (p.Ala2243Thr)

rs747349009 
NM_006231.3(POLE):c.672C>T (p.Tyr224=)

rs376923206 
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.6741C>T (p.His2247=)

rs1414304090 
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.6751T>C (p.Phe2251Leu)

rs373768478 
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.675T>C (p.Asp225=)

rs1446922286 
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.6763A>T (p.Ile2255Phe)

rs73155056 
NM_006231.3(POLE):c.6765C>G (p.Ile2255Met)

rs376336585 
NM_006231.3(POLE):c.6765C>T (p.Ile2255=)

rs376336585 
NM_006231.3(POLE):c.6766G>A (p.Gly2256Arg)

rs116323660 
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>T (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.6795C>T (p.Tyr2265=)

rs142222159 
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.6804G>A (p.Ser2268=)

rs544223319 
NM_006231.3(POLE):c.680C>T (p.Pro227Leu)

rs1060500784 
NM_006231.3(POLE):c.6810C>T (p.Leu2270=)

rs757092767 
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser)

rs73481453 
NM_006231.3(POLE):c.6818C>T (p.Thr2273Ile)

rs779145729 
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val)

rs148788180 
NM_006231.3(POLE):c.6831G>T (p.Leu2277=)

rs145427269 
NM_006231.3(POLE):c.6835C>T (p.Gln2279Ter)

rs1555300713 
NM_006231.3(POLE):c.6837G>A (p.Gln2279=)

rs1195523886 
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.6846A>C (p.Pro2282=)

rs1369939692 
NM_006231.3(POLE):c.6847C>G (p.Gln2283Glu)

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.687C>T (p.His229=)

rs770920362 
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.718G>C (p.Val240Leu)

rs371882716 
NM_006231.3(POLE):c.720+16T>C

rs200320553 
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.7213C>T

rs1593081255 
NM_006231.3(POLE):c.7214G>T

rs765420775 
NM_006231.3(POLE):c.723T>A (p.Ala241=)

rs144422646 
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.72C>T (p.Gly24=)

rs61751359 
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.761C>T (p.Pro254Leu)

rs200211438 
NM_006231.3(POLE):c.762G>A (p.Pro254=)

rs371334601 
NM_006231.3(POLE):c.763G>A (p.Val255Ile)

rs776357611 
NM_006231.3(POLE):c.765A>G (p.Val255=)

rs898919469 
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.774C>G (p.Thr258=)

rs149345392 
NM_006231.3(POLE):c.775C>T (p.Arg259Cys)

rs777638541 
NM_006231.3(POLE):c.776G>A (p.Arg259His)

rs61732929 
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.779G>A (p.Arg260Gln)

rs5744752 
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.786C>T (p.Asp262=)

rs201223598 
NM_006231.3(POLE):c.78T>C (p.Thr26=)

rs1192817723 
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.8021G>C

rs1555229470 
NM_006231.3(POLE):c.8023C>T

rs1593079733 
NM_006231.3(POLE):c.8026C>T

rs754779082 
NM_006231.3(POLE):c.8028C>A

rs1429750584 
NM_006231.3(POLE):c.8029_8028dup

rs751381655 
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.819A>G (p.Ala273=)

rs1185171180 
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.828T>C (p.Ile276=)

rs878854897 
NM_006231.3(POLE):c.833C>T (p.Thr278Met)

rs764254754 
NM_006231.3(POLE):c.834G>A (p.Thr278=)

rs758368160 
NM_006231.3(POLE):c.836C>T (p.Thr279Ile)

rs753262710 
NM_006231.3(POLE):c.837C>G (p.Thr279=)

rs927395918 
NM_006231.3(POLE):c.840A>C (p.Lys280Asn)

rs908089476 
NM_006231.3(POLE):c.841C>T (p.Leu281=)

rs765827736 
NM_006231.3(POLE):c.842T>C (p.Leu281Pro)

rs1555229430 
NM_006231.3(POLE):c.846C>G (p.Pro282=)

rs5744758 
NM_006231.3(POLE):c.846C>T (p.Pro282=)

rs5744758 
NM_006231.3(POLE):c.847C>T (p.Leu283Phe)

rs878854898 
NM_006231.3(POLE):c.84A>T (p.Ser28=)

rs774280853 
NM_006231.3(POLE):c.850A>G (p.Lys284Glu)

rs568483856 
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.864T>C (p.Ala288=)

rs761167791 
NM_006231.3(POLE):c.876G>T (p.Gln292His)

rs1324298673 
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.900C>T (p.Ile300=)

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.909+20G>A

rs750593090 
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.9106G>T

rs4077170 
NM_006231.3(POLE):c.9106_9105delinsCA

rs1555229333 
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.91G>T (p.Ala31Ser)

rs34047482 
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.947A>G (p.Asp316Gly)

rs1555229304 
NM_006231.3(POLE):c.94C>T (p.Leu32Phe)

rs781513537 
NM_006231.3(POLE):c.950T>C (p.Ile317Thr)

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.963G>A (p.Glu321=)

rs1555229295 
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.972C>G (p.Pro324=)

rs745638752 
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.996T>C (p.Phe332=)

rs779159186 
NM_006231.4(POLE):c.1004T>G (p.Phe335Cys)

rs1593078268 
NM_006231.4(POLE):c.100C>T (p.Arg34Cys)


NM_006231.4(POLE):c.1015G>T (p.Asp339Tyr)


NM_006231.4(POLE):c.1020+3A>G


NM_006231.4(POLE):c.102110T>C

rs372437632 
NM_006231.4(POLE):c.102111C>T

rs781431436 
NM_006231.4(POLE):c.1021G>A (p.Ala341Thr)


NM_006231.4(POLE):c.1024C>T (p.His342Tyr)


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.105G>A (p.Leu35=)

rs778406376 
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.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.1106+9G>T

rs746392495 
NM_006231.4(POLE):c.11073C>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.1173G>A (p.Lys391=)

rs1593076842 
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.1226+8C>T

rs1593076626 
NM_006231.4(POLE):c.122C>G (p.Thr41Arg)


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.1288G>A (p.Ala430Thr)

rs140566004 
NM_006231.4(POLE):c.1288G>T (p.Ala430Ser)


NM_006231.4(POLE):c.129G>A (p.Lys43=)

rs767554563 
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>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.136036_13601del


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.1432A>G (p.Ile478Val)

rs1195703002 
NM_006231.4(POLE):c.143T>G (p.Phe48Cys)


NM_006231.4(POLE):c.1459A>G (p.Met487Val)


NM_006231.4(POLE):c.1460T>C (p.Met487Thr)


NM_006231.4(POLE):c.1473+3G>A

rs1264359374 
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.1521G>A (p.Val507=)

rs772389988 
NM_006231.4(POLE):c.1527C>T (p.Ala509=)

rs1593071203 
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.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.168710G>A

rs1593069617 
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.1731C>G (p.Thr577=)

rs1164316162 
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.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.1795752_1864del


NM_006231.4(POLE):c.1799G>C (p.Cys600Ser)


NM_006231.4(POLE):c.179C>T (p.Thr60Ile)


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.1881G>C (p.Val627=)

rs775726937 
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+10T>G

rs765816578 
NM_006231.4(POLE):c.1923+4A>G

rs1464802642 
NM_006231.4(POLE):c.192410C>T

rs1389436019 
NM_006231.4(POLE):c.1932C>T (p.Ala644=)

rs1593792850 
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.1980A>T (p.Gly660=)

rs771248462 
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.20278C>T

rs1168629743 
NM_006231.4(POLE):c.202C>T (p.Pro68Ser)


NM_006231.4(POLE):c.204T>G (p.Pro68=)


NM_006231.4(POLE):c.2052A>G


NM_006231.4(POLE):c.2057C>T

rs1593087328 
NM_006231.4(POLE):c.2053C>G (p.Arg685Gly)


NM_006231.4(POLE):c.2058C>A (p.Ile686=)

rs140254249 
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.21746G>A

rs1593790359 
NM_006231.4(POLE):c.21748G>A

rs117409343 
NM_006231.4(POLE):c.2174A>T (p.Asp725Val)


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.23208C>T

rs745933620 
NM_006231.4(POLE):c.2321T>G (p.Val774Gly)


NM_006231.4(POLE):c.2331_2332del (p.Lys778fs)


NM_006231.4(POLE):c.233T>G (p.Leu78Ter)


NM_006231.4(POLE):c.2346C>A (p.Ala782=)

rs114642756 
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.2364G>T (p.Ala788=)

rs753367995 
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.24699T>C


NM_006231.4(POLE):c.2477_2501dup (p.Ile834fs)


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.2523C>T (p.Asn841=)

rs1278621028 
NM_006231.4(POLE):c.2539C>T (p.Arg847Trp)


NM_006231.4(POLE):c.2553G>A (p.Glu851=)

rs1286848399 
NM_006231.4(POLE):c.2555A>G (p.Gln852Arg)


NM_006231.4(POLE):c.2559T>G (p.Ile853Met)


NM_006231.4(POLE):c.256210_25627del

rs1414317993 
NM_006231.4(POLE):c.2567C>T (p.Pro856Leu)


NM_006231.4(POLE):c.2569T>A (p.Leu857Ile)


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.2670C>T (p.Ile890=)

rs779851859 
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.2708A>T (p.Glu903Val)


NM_006231.4(POLE):c.270C>T (p.Asp90=)

rs751104931 
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.2802T>C (p.Asp934=)

rs1173223514 
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.2811C>T (p.Tyr937=)

rs1593777350 
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.285+9del

rs1593087048 
NM_006231.4(POLE):c.2862A>G

rs1593086474 
NM_006231.4(POLE):c.2864A>C

rs1593086482 
NM_006231.4(POLE):c.2864del

rs1555230256 
NM_006231.4(POLE):c.2868C>T

rs1593086516 
NM_006231.4(POLE):c.2868_2867del


NM_006231.4(POLE):c.2863A>G (p.Arg955Gly)


NM_006231.4(POLE):c.2864+10_2864+11del

rs1555226012 
NM_006231.4(POLE):c.2864+4G>A


NM_006231.4(POLE):c.286517_286514dup

rs369732588 
NM_006231.4(POLE):c.28653_2865del

rs1593776411 
NM_006231.4(POLE):c.28654del

rs369732588 
NM_006231.4(POLE):c.28655_28654del

rs369732588 
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.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.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.3085C>T (p.Leu1029=)

rs1593772866 
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.3249G>A (p.Lys1083=)

rs1593772249 
NM_006231.4(POLE):c.3250C>T (p.Pro1084Ser)


NM_006231.4(POLE):c.3253G>A (p.Glu1085Lys)


NM_006231.4(POLE):c.3264_3275+13del

rs761516512 
NM_006231.4(POLE):c.3275+10C>A

rs1565955808 
NM_006231.4(POLE):c.3275+10C>T

rs1565955808 
NM_006231.4(POLE):c.3275+38_3275+88del

rs1565955594 
NM_006231.4(POLE):c.3275G>A (p.Arg1092Lys)


NM_006231.4(POLE):c.327630C>T

rs773248517 
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.33110T>C

rs777232796 
NM_006231.4(POLE):c.3322C>G (p.His1108Asp)


NM_006231.4(POLE):c.3323A>G (p.His1108Arg)


NM_006231.4(POLE):c.3331C>A (p.Arg1111=)

rs774028311 
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.33795T>C

rs5744886 
NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly)


NM_006231.4(POLE):c.3396C>A (p.Tyr1132Ter)


NM_006231.4(POLE):c.33G>A (p.Ala11=)


NM_006231.4(POLE):c.33G>C (p.Ala11=)

rs1593099059 
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer)

rs1555225201 
NM_006231.4(POLE):c.342A>T (p.Arg114=)

rs1593086031 
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+34G>A

rs753702996 
NM_006231.4(POLE):c.3582+6G>T


NM_006231.4(POLE):c.358312dup

rs766426579 
NM_006231.4(POLE):c.35839T>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.3609C>T (p.Asp1203=)

rs768023673 
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.3705T>C (p.Leu1235=)

rs1226409558 
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.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.37C>G (p.Pro13Ala)


NM_006231.4(POLE):c.37C>T (p.Pro13Ser)


NM_006231.4(POLE):c.3816C>T (p.Leu1272=)

rs1340280694 
NM_006231.4(POLE):c.3826_3828AAG[2] (p.Lys1278del)


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.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.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.4032G>A (p.Leu1344=)

rs1310040745 
NM_006231.4(POLE):c.4035C>G (p.Phe1345Leu)


NM_006231.4(POLE):c.4039C>G (p.Leu1347Val)


NM_006231.4(POLE):c.4039C>T (p.Leu1347=)

rs999490184 
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.4119T>C (p.Ala1373=)

rs1593748487 
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


