NC_000012.12:g.132659513G>C


NC_000012.12:g.132667657G>A


NC_000012.12:g.132672179_132672180del


NC_000012.12:g.132680049A>G


NM_006231.3(POLE):c.*18G>T

rs573406234 
NM_006231.3(POLE):c.15G>A

rs554140626 
NM_006231.3(POLE):c.45G>A

rs1064795271 
NM_006231.3(POLE):c.47G>T

rs1014146082 
NM_006231.3(POLE):c.6G>A

rs534524789 
NM_006231.3(POLE):c.6G>C

rs534524789 
NM_006231.3(POLE):c.7C>T

rs1064796567 
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser)

rs5744760 
NM_006231.3(POLE):c.1016A>T (p.Asp339Val)

rs1060500865 
NM_006231.3(POLE):c.101G>T (p.Arg34Leu)

rs747005851 
NM_006231.3(POLE):c.1020+124A>G


NM_006231.3(POLE):c.1020+1G>T

rs1064794748 
NM_006231.3(POLE):c.102120C>G

rs1064796140 
NM_006231.3(POLE):c.102126_1045delinsGTTCTACACC

rs1555229232 
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser)

rs137860861 
NM_006231.3(POLE):c.1051G>A (p.Val351Ile)

rs759414746 
NM_006231.3(POLE):c.1055A>C (p.Gln352Pro)

rs766094330 
NM_006231.3(POLE):c.1064A>G (p.Lys355Arg)

rs141396559 
NM_006231.3(POLE):c.1088A>G (p.Asn363Ser)

rs879254173 
NM_006231.3(POLE):c.1089C>G (p.Asn363Lys)

rs146639652 
NM_006231.3(POLE):c.1106+20A>G

rs200322118 
NM_006231.3(POLE):c.1106+7C>A

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


NM_006231.3(POLE):c.1107G>A (p.Trp369Ter)

rs1171878347 
NM_006231.3(POLE):c.1108C>A (p.Pro370Thr)

rs576578672 
NM_006231.3(POLE):c.112A>T (p.Ser38Cys)

rs879254247 
NM_006231.3(POLE):c.1147A>G (p.Met383Val)

rs879254238 
NM_006231.3(POLE):c.1156G>A (p.Glu386Lys)

rs893340262 
NM_006231.3(POLE):c.1171_1173del (p.Lys391del)

rs753999122 
NM_006231.3(POLE):c.1180C>T (p.Gln394Ter)

rs1565975090 
NM_006231.3(POLE):c.1184G>A (p.Gly395Glu)

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.1213A>C (p.Met405Leu)

rs1064796182 
NM_006231.3(POLE):c.1226+45C>T


NM_006231.3(POLE):c.1227149T>C


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

rs537816213 
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.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.1280C>T (p.Ala427Val)

rs878854841 
NM_006231.3(POLE):c.1303G>A (p.Asp435Asn)

rs879254276 
NM_006231.3(POLE):c.1308C>T (p.Pro436=)

rs755627156 
NM_006231.3(POLE):c.1323G>A (p.Pro441=)

rs116573514 
NM_006231.3(POLE):c.1336C>T (p.Arg446Trp)

rs200403177 
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln)

rs151273553 
NM_006231.3(POLE):c.1347G>A (p.Thr449=)

rs142373951 
NM_006231.3(POLE):c.1359+5G>A

rs761564635 
NM_006231.3(POLE):c.1359+9G>A

rs75135381 
NM_006231.3(POLE):c.13606C>T

rs139836643 
NM_006231.3(POLE):c.1372T>A (p.Tyr458Asn)

rs879254259 
NM_006231.3(POLE):c.1376C>G (p.Ser459Cys)

rs765702675 
NM_006231.3(POLE):c.139C>T (p.Arg47Trp)

rs143626223 
NM_006231.3(POLE):c.1405C>T (p.Leu469=)

rs368303888 
NM_006231.3(POLE):c.1419C>T (p.Tyr473=)

rs369961557 
NM_006231.3(POLE):c.1467C>T (p.Pro489=)

rs995585765 
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.1487del (p.Gly496fs)

rs1555228358 
NM_006231.3(POLE):c.1533C>T (p.His511=)

rs545378475 
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr)

rs113998091 
NM_006231.3(POLE):c.154C>T (p.Arg52Trp)

rs115452881 
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.1583C>T (p.Thr528Met)

rs116263919 
NM_006231.3(POLE):c.1590C>T (p.Asp530=)

rs1040269464 
NM_006231.3(POLE):c.1608T>C (p.Ser536=)

rs763078534 
NM_006231.3(POLE):c.1645T>C (p.Ser549Pro)

rs115558715 
NM_006231.3(POLE):c.1661G>A (p.Ser554Asn)

rs1028317886 
NM_006231.3(POLE):c.1695C>T (p.Ala565=)

rs139748472 
NM_006231.3(POLE):c.16G>C (p.Gly6Arg)

rs202220778 
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.1717C>T (p.Arg573Trp)

rs373000452 
NM_006231.3(POLE):c.1729A>G (p.Thr577Ala)

rs1565970674 
NM_006231.3(POLE):c.1735C>T (p.Arg579Cys)

rs116260568 
NM_006231.3(POLE):c.1738C>A (p.His580Asn)

rs371149234 
NM_006231.3(POLE):c.1744C>T (p.Leu582Phe)

rs761273376 
NM_006231.3(POLE):c.1795105A>G


NM_006231.3(POLE):c.179513G>A

rs749522265 
NM_006231.3(POLE):c.1795250C>T


NM_006231.3(POLE):c.1847G>A (p.Arg616His)

rs764558974 
NM_006231.3(POLE):c.1859C>T (p.Pro620Leu)

rs1565966691 
NM_006231.3(POLE):c.1863C>G (p.Leu621=)

rs767326433 
NM_006231.3(POLE):c.1866C>T (p.Ile622=)

rs1060504068 
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys)

rs150564856 
NM_006231.3(POLE):c.1897A>C (p.Asn633His)

rs141657198 
NM_006231.3(POLE):c.1905C>T (p.Ile635=)

rs145203544 
NM_006231.3(POLE):c.19246T>C

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

rs758112633 
NM_006231.3(POLE):c.1926C>T (p.Pro642=)

rs779747873 
NM_006231.3(POLE):c.1957G>T (p.Ala653Ser)

rs751451482 
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.1A>T (p.Met1Leu)

rs878854847 
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.2026+9C>T

rs373790607 
NM_006231.3(POLE):c.202761T>C


NM_006231.3(POLE):c.2043C>T (p.Ser681=)

rs554997781 
NM_006231.3(POLE):c.2054G>A (p.Arg685Gln)

rs770597683 
NM_006231.3(POLE):c.207C>G (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)


NM_006231.3(POLE):c.2085C>T (p.Phe695=)

rs1060500837 
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser)

rs5744800 
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg)

rs36120395 
NM_006231.3(POLE):c.2090C>T (p.Pro697Leu)

rs36120395 
NM_006231.3(POLE):c.2091del (p.Leu698fs)

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

rs752846614 
NM_006231.3(POLE):c.20_29dup (p.Asp12fs)

rs1555231426 
NM_006231.3(POLE):c.2106G>T (p.Gly702=)

rs5744801 
NM_006231.3(POLE):c.2131T>C (p.Ser711Pro)

rs374800058 
NM_006231.3(POLE):c.2171C>T (p.Ala724Val)

rs61734163 
NM_006231.3(POLE):c.2172G>A (p.Ala724=)

rs372240734 
NM_006231.3(POLE):c.21748G>A

rs117409343 
NM_006231.3(POLE):c.2225G>A (p.Arg742His)

rs116360781 
NM_006231.3(POLE):c.2245C>T (p.Arg749Trp)

rs751326135 
NM_006231.3(POLE):c.2262C>T (p.Tyr754=)

rs145337550 
NM_006231.3(POLE):c.2271C>T (p.Thr757=)

rs765532123 
NM_006231.3(POLE):c.2276G>A (p.Arg759His)

rs746774432 
NM_006231.3(POLE):c.2284C>T (p.Arg762Trp)

rs1064794759 
NM_006231.3(POLE):c.228G>A (p.Lys76=)


NM_006231.3(POLE):c.2320113T>C


NM_006231.3(POLE):c.232013A>G

rs75329753 
NM_006231.3(POLE):c.2320156C>T


NM_006231.3(POLE):c.232068G>A


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

rs771591846 
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.2340_2342GGC[1] (p.Ala782del)

rs1064796065 
NM_006231.3(POLE):c.2363C>T (p.Ala788Val)

rs1060500813 
NM_006231.3(POLE):c.2377C>T (p.Arg793Cys)

rs376624527 
NM_006231.3(POLE):c.239G>A (p.Ser80Asn)

rs1064795406 
NM_006231.3(POLE):c.241G>A (p.Ala81Thr)

rs749720207 
NM_006231.3(POLE):c.2442C>T (p.Ser814=)

rs377036799 
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.246915G>A

rs5744833 
NM_006231.3(POLE):c.2469227C>T


NM_006231.3(POLE):c.2469242G>A


NM_006231.3(POLE):c.24695C>T

rs1565961371 
NM_006231.3(POLE):c.2487G>A (p.Met829Ile)

rs372109189 
NM_006231.3(POLE):c.2510T>C (p.Phe837Ser)

rs139182500 
NM_006231.3(POLE):c.2550C>T (p.Ile850=)

rs5744834 
NM_006231.3(POLE):c.2561+6T>C

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

rs751662353 
NM_006231.3(POLE):c.256248T>C


NM_006231.3(POLE):c.2575C>T (p.Leu859=)

rs1565960909 
NM_006231.3(POLE):c.2599G>A (p.Val867Ile)

rs374200895 
NM_006231.3(POLE):c.2602C>T (p.Leu868=)

rs115830215 
NM_006231.3(POLE):c.2612G>C (p.Ser871Thr)

rs770470552 
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr)

rs201115064 
NM_006231.3(POLE):c.2707G>T (p.Glu903Ter)

rs1555226066 
NM_006231.3(POLE):c.270del (p.Asp90fs)

rs878854854 
NM_006231.3(POLE):c.272G>A (p.Gly91Glu)

rs376348304 
NM_006231.3(POLE):c.2770C>T (p.Arg924Cys)

rs369751686 
NM_006231.3(POLE):c.2773T>C (p.Ser925Pro)

rs141552148 
NM_006231.3(POLE):c.2792T>C (p.Phe931Ser)

rs376546593 
NM_006231.3(POLE):c.2818A>G (p.Met940Val)

rs148382941 
NM_006231.3(POLE):c.28696G>A


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

rs878854856 
NM_006231.3(POLE):c.286517dup

rs369732588 
NM_006231.3(POLE):c.2879A>G (p.Asn960Ser)

rs746311547 
NM_006231.3(POLE):c.28C>T (p.Arg10Cys)

rs1245695191 
NM_006231.3(POLE):c.2928C>T (p.Arg976=)

rs5744845 
NM_006231.3(POLE):c.2935C>T (p.Leu979=)

rs56081968 
NM_006231.3(POLE):c.296C>T (p.Pro99Leu)

rs5744739 
NM_006231.3(POLE):c.2974G>A (p.Ala992Thr)

rs115193764 
NM_006231.3(POLE):c.2993C>T (p.Thr998Met)

rs989886155 
NM_006231.3(POLE):c.2T>A (p.Met1Lys)

rs879254126 
NM_006231.3(POLE):c.2T>C (p.Met1Thr)

rs879254126 
NM_006231.3(POLE):c.3015T>C (p.Ser1005=)

rs376781169 
NM_006231.3(POLE):c.3046G>A (p.Val1016Met)

rs147692158 
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+188A>T


NM_006231.3(POLE):c.3060+189C>T


NM_006231.3(POLE):c.3090C>T (p.Phe1030=)

rs766306895 
NM_006231.3(POLE):c.3126G>A (p.Lys1042=)

rs5744856 
NM_006231.3(POLE):c.3135T>C (p.Asp1045=)

rs748871390 
NM_006231.3(POLE):c.3142G>A (p.Glu1048Lys)

rs1164020030 
NM_006231.3(POLE):c.3151T>C (p.Ser1051Pro)

rs1064796258 
NM_006231.3(POLE):c.3156G>A (p.Thr1052=)

rs5744857 
NM_006231.3(POLE):c.318T>C (p.Ile106=)

rs770759936 
NM_006231.3(POLE):c.3229C>T (p.Arg1077Cys)

rs149777592 
NM_006231.3(POLE):c.3230G>A (p.Arg1077His)

rs768950975 
NM_006231.3(POLE):c.3245G>A (p.Arg1082His)

rs201744227 
NM_006231.3(POLE):c.3275+92T>C


NM_006231.3(POLE):c.3276186_3276185insACAC


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

rs531705054 
NM_006231.3(POLE):c.3318G>T (p.Arg1106Ser)


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.3377C>T (p.Ala1126Val)

rs373707446 
NM_006231.3(POLE):c.3378+7G>T

rs755370377 
NM_006231.3(POLE):c.337912C>T

rs187618435 
NM_006231.3(POLE):c.33795T>C

rs5744886 
NM_006231.3(POLE):c.3387T>C (p.Asp1129=)

rs371357642 
NM_006231.3(POLE):c.3396C>T (p.Tyr1132=)


NM_006231.3(POLE):c.3411G>A (p.Leu1137=)

rs368920055 
NM_006231.3(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer)

rs1555225201 
NM_006231.3(POLE):c.3441C>T (p.Ile1147=)

rs748278223 
NM_006231.3(POLE):c.347T>C (p.Val116Ala)

rs771744496 
NM_006231.3(POLE):c.3489C>T (p.His1163=)

rs5744888 
NM_006231.3(POLE):c.3497G>A (p.Trp1166Ter)

rs1426673673 
NM_006231.3(POLE):c.351A>G (p.Ser117=)

rs199773841 
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.3582+17A>G

rs5744889 
NM_006231.3(POLE):c.3582+6G>A

rs113307290 
NM_006231.3(POLE):c.3582+7G>A

rs558837073 
NM_006231.3(POLE):c.3583164T>C


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

rs866237249 
NM_006231.3(POLE):c.3595G>A (p.Glu1199Lys)

rs1012418859 
NM_006231.3(POLE):c.3614C>A (p.Pro1205Gln)

rs772686048 
NM_006231.3(POLE):c.3617G>T (p.Arg1206Met)

rs1060500839 
NM_006231.3(POLE):c.3645C>T (p.Phe1215=)

rs758716323 
NM_006231.3(POLE):c.3652G>A (p.Val1218Ile)

rs756246229 
NM_006231.3(POLE):c.3669_3671AGC[3] (p.Ala1225dup)

rs750939989 
NM_006231.3(POLE):c.3670_3671delinsTT (p.Ala1224Leu)

rs864622698 
NM_006231.3(POLE):c.3677C>T (p.Pro1226Leu)

rs1390451656 
NM_006231.3(POLE):c.369G>A (p.Lys123=)

rs1328407908 
NM_006231.3(POLE):c.3716A>G (p.Gln1239Arg)

rs146210785 
NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys)

rs113594027 
NM_006231.3(POLE):c.3740C>T (p.Pro1247Leu)

rs572986717 
NM_006231.3(POLE):c.3745G>A (p.Val1249Met)

rs762626359 
NM_006231.3(POLE):c.3778G>A (p.Ala1260Thr)

rs143858927 
NM_006231.3(POLE):c.379658A>G


NM_006231.3(POLE):c.3808G>A (p.Val1270Ile)

rs199574832 
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln)

rs149462407 
NM_006231.3(POLE):c.3857G>A (p.Arg1286His)

rs771823596 
NM_006231.3(POLE):c.3857G>T (p.Arg1286Leu)


NM_006231.3(POLE):c.3858_3881del (p.Ala1288_Leu1295del)

rs759449495 
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr)

rs200398117 
NM_006231.3(POLE):c.3881G>A (p.Arg1294His)

rs115455318 
NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg)

rs563990655 
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.3926A>G (p.Asp1309Gly)

rs776828609 
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.3990G>A (p.Pro1330=)


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.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.4077G>T (p.Arg1359Ser)

rs1064796047 
NM_006231.3(POLE):c.4102G>A (p.Val1368Met)

rs770558983 
NM_006231.3(POLE):c.4149+152C>T


NM_006231.3(POLE):c.4149+2T>C

rs1064796760 
NM_006231.3(POLE):c.4150107C>T


NM_006231.3(POLE):c.415017C>T

rs758539843 
NM_006231.3(POLE):c.41506C>T

rs756837862 
NM_006231.3(POLE):c.415090dup


NM_006231.3(POLE):c.4157G>A (p.Arg1386Gln)

rs969355093 
NM_006231.3(POLE):c.4168C>T (p.Arg1390Cys)

rs768504121 
NM_006231.3(POLE):c.4169G>A (p.Arg1390His)

rs200776293 
NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys)

rs149145495 
NM_006231.3(POLE):c.4187A>G (p.Asn1396Ser)

rs5744934 
NM_006231.3(POLE):c.4220A>G (p.Tyr1407Cys)

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.4236C>T (p.Asn1412=)

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

rs372901803 
NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser)

rs748378612 
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr)

rs146711942 
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val)

rs41561818 
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.427A>G (p.Asn143Asp)


NM_006231.3(POLE):c.4290+102A>T


NM_006231.3(POLE):c.4290+1G>A

rs1565940214 
NM_006231.3(POLE):c.4290+5C>T

rs5744936 
NM_006231.3(POLE):c.429112C>T

rs564807391 
NM_006231.3(POLE):c.4353G>A (p.Leu1451=)

rs769149466 
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val)

rs776534749 
NM_006231.3(POLE):c.4390G>C (p.Ala1464Pro)

rs778717624 
NM_006231.3(POLE):c.4444+4T>A

rs5744941 
NM_006231.3(POLE):c.444533C>T


NM_006231.3(POLE):c.4445G>A (p.Gly1482Glu)

rs1555222946 
NM_006231.3(POLE):c.4450A>G (p.Ile1484Val)

rs772734618 
NM_006231.3(POLE):c.4461C>T (p.Ile1487=)

rs536917758 
NM_006231.3(POLE):c.446A>G (p.Lys149Arg)

rs374428362 
NM_006231.3(POLE):c.4476C>A (p.His1492Gln)

rs5744943 
NM_006231.3(POLE):c.4477G>A (p.Ala1493Thr)

rs748522633 
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs)


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

rs777611171 
NM_006231.3(POLE):c.4522C>G (p.Arg1508Gly)

rs766511597 
NM_006231.3(POLE):c.4523G>A (p.Arg1508His)

rs142508245 
NM_006231.3(POLE):c.4525A>G (p.Arg1509Gly)

rs1060500816 
NM_006231.3(POLE):c.4530A>G (p.Ala1510=)

rs5744944 
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.4551+10G>A

rs1565938933 
NM_006231.3(POLE):c.455210G>T

rs5744946 
NM_006231.3(POLE):c.45525T>A

rs1064795991 
NM_006231.3(POLE):c.4555C>T (p.Arg1519Cys)

rs542430685 
NM_006231.3(POLE):c.456C>T (p.Tyr152=)


NM_006231.3(POLE):c.4587G>A (p.Leu1529=)

rs1565938547 
NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser)

rs138564205 
NM_006231.3(POLE):c.461G>A (p.Arg154Lys)

rs769882912 
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala)

rs147500308 
NM_006231.3(POLE):c.4647dup (p.Lys1550fs)

rs754220952 
NM_006231.3(POLE):c.4660G>A (p.Glu1554Lys)

rs143247306 
NM_006231.3(POLE):c.4680C>T (p.Asp1560=)

rs774425403 
NM_006231.3(POLE):c.4719C>T (p.Leu1573=)

rs115219846 
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.4792A>C (p.Ser1598Arg)

rs776538943 
NM_006231.3(POLE):c.4812G>C (p.Glu1604Asp)

rs1064794898 
NM_006231.3(POLE):c.4831A>C (p.Ile1611Leu)

rs551368454 
NM_006231.3(POLE):c.4857_4858insA (p.Gly1620fs)

rs1432073374 
NM_006231.3(POLE):c.4872G>A (p.Trp1624Ter)

rs754982151 
NM_006231.3(POLE):c.4873C>G (p.Gln1625Glu)

rs1064794648 
NM_006231.3(POLE):c.4891C>T (p.Arg1631Cys)

rs565413729 
NM_006231.3(POLE):c.4892G>A (p.Arg1631His)

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

rs1565937490 
NM_006231.3(POLE):c.48T>C (p.Asp16=)

rs1057523833 
NM_006231.3(POLE):c.4901G>A (p.Arg1634His)

rs760149463 
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.4992C>T (p.Ile1664=)

rs1555222515 
NM_006231.3(POLE):c.5001C>T (p.Phe1667=)

rs112358554 
NM_006231.3(POLE):c.5007C>T (p.Ser1669=)

rs146761597 
NM_006231.3(POLE):c.5010C>T (p.Asp1670=)


NM_006231.3(POLE):c.5036G>T (p.Arg1679Leu)

rs748940418 
NM_006231.3(POLE):c.5060C>A (p.Ser1687Tyr)

rs1565936909 
NM_006231.3(POLE):c.5090A>G (p.Lys1697Arg)

rs879254207 
NM_006231.3(POLE):c.5090_5092AGG[1] (p.Glu1698del)

rs1555222471 
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.5135C>T (p.Ala1712Val)

rs5744950 
NM_006231.3(POLE):c.5173+10C>T

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

rs368209692 
NM_006231.3(POLE):c.5173+18C>T

rs201587262 
NM_006231.3(POLE):c.5174T>C (p.Val1725Ala)

rs1064796427 
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.5215A>G (p.Ile1739Val)

rs1064794641 
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.5278G>A (p.Val1760Met)

rs373272795 
NM_006231.3(POLE):c.5312C>T (p.Thr1771Met)

rs777695766 
NM_006231.3(POLE):c.5313G>T (p.Thr1771=)

rs201803493 
NM_006231.3(POLE):c.5334C>T (p.Ala1778=)

rs11146986 
NM_006231.3(POLE):c.5346C>T (p.Tyr1782=)

rs761902063 
NM_006231.3(POLE):c.5361del (p.Cys1788fs)

rs752558475 
NM_006231.3(POLE):c.5378+1G>T


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

rs376722984 
NM_006231.3(POLE):c.5382C>G (p.Ile1794Met)

rs368364666 
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.5478G>T (p.Arg1826=)

rs537648186 
NM_006231.3(POLE):c.5480C>T (p.Ser1827Leu)

rs763031537 
NM_006231.3(POLE):c.5496T>C (p.Leu1832=)

rs147543146 
NM_006231.3(POLE):c.5515C>T (p.Arg1839Cys)

rs141519273 
NM_006231.3(POLE):c.553G>A (p.Asp185Asn)

rs369506007 
NM_006231.3(POLE):c.555312C>G

rs766922669 
NM_006231.3(POLE):c.55531G>A

rs1064796152 
NM_006231.3(POLE):c.555343T>C


NM_006231.3(POLE):c.55537T>C


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.5572C>T (p.Arg1858Cys)

rs1193081581 
NM_006231.3(POLE):c.5583A>C (p.Ser1861=)

rs5744972 
NM_006231.3(POLE):c.5596G>A (p.Ala1866Thr)

rs377662540 
NM_006231.3(POLE):c.5607C>T (p.Asn1869=)

rs1565932038 
NM_006231.3(POLE):c.5608C>T (p.Arg1870Cys)

rs138231414 
NM_006231.3(POLE):c.561C>T (p.Tyr187=)

rs143938822 
NM_006231.3(POLE):c.5633G>A (p.Arg1878His)

rs374022997 
NM_006231.3(POLE):c.5653G>A (p.Ala1885Thr)

rs748008084 
NM_006231.3(POLE):c.5659G>A (p.Val1887Met)

rs114119067 
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.5678+212G>A


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


NM_006231.3(POLE):c.5678+78C>G


NM_006231.3(POLE):c.5679127G>A


NM_006231.3(POLE):c.567982A>G


NM_006231.3(POLE):c.5707C>T (p.Leu1903=)

rs5744990 
NM_006231.3(POLE):c.5726G>A (p.Arg1909Gln)

rs201455049 
NM_006231.3(POLE):c.5761A>G (p.Asn1921Asp)

rs771980261 
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.577A>G (p.Ser193Gly)

rs760588718 
NM_006231.3(POLE):c.579140T>G


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.5804G>A (p.Cys1935Tyr)

rs5744991 
NM_006231.3(POLE):c.5812123G>A


NM_006231.3(POLE):c.581221G>A


NM_006231.3(POLE):c.581295A>G


NM_006231.3(POLE):c.5866G>A (p.Glu1956Lys)

rs749992643 
NM_006231.3(POLE):c.5871G>A (p.Glu1957=)


NM_006231.3(POLE):c.5900C>T (p.Ala1967Val)

rs201273415 
NM_006231.3(POLE):c.5907A>C (p.Glu1969Asp)


NM_006231.3(POLE):c.590G>C (p.Arg197Thr)

rs528361482 
NM_006231.3(POLE):c.5940G>A (p.Trp1980Ter)

rs1470483579 
NM_006231.3(POLE):c.5966C>G (p.Ala1989Gly)

rs745501021 
NM_006231.3(POLE):c.6004+11A>G

rs201591857 
NM_006231.3(POLE):c.600512G>A


NM_006231.3(POLE):c.6005212A>G


NM_006231.3(POLE):c.6012C>T (p.Ile2004=)

rs147806951 
NM_006231.3(POLE):c.6018C>T (p.Ala2006=)

rs111709550 
NM_006231.3(POLE):c.602T>C (p.Ile201Thr)

rs375209004 
NM_006231.3(POLE):c.6039C>T (p.Asp2013=)

rs371563366 
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.6086G>A (p.Gly2029Glu)

rs879254239 
NM_006231.3(POLE):c.6112G>A (p.Glu2038Lys)

rs181570274 
NM_006231.3(POLE):c.6120G>A (p.Ala2040=)

rs777260502 
NM_006231.3(POLE):c.6136G>A (p.Gly2046Arg)

rs1462887616 
NM_006231.3(POLE):c.6166G>A (p.Ala2056Thr)

rs58916399 
NM_006231.3(POLE):c.6177C>T (p.Leu2059=)

rs1565926820 
NM_006231.3(POLE):c.62+15C>T

rs2075784 
NM_006231.3(POLE):c.62+97T>G


NM_006231.3(POLE):c.6232C>T (p.Arg2078Trp)

rs1060500867 
NM_006231.3(POLE):c.6252A>G (p.Ser2084=)

rs5745022 
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser)

rs572252265 
NM_006231.3(POLE):c.63139_63135del


NM_006231.3(POLE):c.63223G>A


NM_006231.3(POLE):c.631A>T (p.Ile211Leu)

rs1064796126 
NM_006231.3(POLE):c.6328A>G (p.Lys2110Glu)

rs746736600 
NM_006231.3(POLE):c.6330+15G>A

rs5745023 
NM_006231.3(POLE):c.6330+209A>G


NM_006231.3(POLE):c.63318C>T

rs769766403 
NM_006231.3(POLE):c.6334C>G (p.Leu2112Val)

rs373443211 
NM_006231.3(POLE):c.6354C>T (p.Ile2118=)

rs547872135 
NM_006231.3(POLE):c.6391C>T (p.Arg2131Cys)

rs369748519 
NM_006231.3(POLE):c.6405C>T (p.Val2135=)

rs139607077 
NM_006231.3(POLE):c.6408C>T (p.Gly2136=)

rs1057524549 
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.6418del (p.Glu2140fs)

rs1064794703 
NM_006231.3(POLE):c.6427C>A (p.Gln2143Lys)

rs1566309175 
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.6453C>T (p.Tyr2151=)

rs116076060 
NM_006231.3(POLE):c.6454G>A (p.Val2152Met)

rs138789360 
NM_006231.3(POLE):c.6457del (p.Leu2153fs)

rs1064794611 
NM_006231.3(POLE):c.6466G>A (p.Val2156Ile)

rs542978638 
NM_006231.3(POLE):c.6476G>A (p.Arg2159His)

rs373092830 
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.6516_6517CT[1] (p.Ser2173fs)

rs774417192 
NM_006231.3(POLE):c.6531+18C>T


NM_006231.3(POLE):c.653214C>G

rs1483343976 
NM_006231.3(POLE):c.65324C>G


NM_006231.3(POLE):c.6537_6541del (p.Ala2180fs)

rs879254107 
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val)

rs552452448 
NM_006231.3(POLE):c.6575C>T (p.Ala2192Val)

rs756301031 
NM_006231.3(POLE):c.6590C>T (p.Ser2197Phe)

rs1489412079 
NM_006231.3(POLE):c.6623del (p.Gln2208fs)

rs1555301070 
NM_006231.3(POLE):c.664C>G (p.Arg222Gly)

rs767503360 
NM_006231.3(POLE):c.6657+16C>T

rs5745075 
NM_006231.3(POLE):c.665819C>G

rs5745081 
NM_006231.3(POLE):c.6658200C>T


NM_006231.3(POLE):c.66587C>A

rs531482240 
NM_006231.3(POLE):c.665888G>A


NM_006231.3(POLE):c.665G>A (p.Arg222His)

rs1060500862 
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg)

rs367970442 
NM_006231.3(POLE):c.6674G>A (p.Arg2225His)

rs538875477 
NM_006231.3(POLE):c.6675C>T (p.Arg2225=)

rs149973644 
NM_006231.3(POLE):c.6678G>A (p.Gly2226=)

rs1162754521 
NM_006231.3(POLE):c.6682_6684del (p.Lys2228del)

rs878854896 
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val)

rs190813054 
NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe)

rs375741031 
NM_006231.3(POLE):c.6734C>G (p.Thr2245Ser)

rs747676884 
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)


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

rs116323660 
NM_006231.3(POLE):c.6775C>T (p.Arg2259Trp)

rs866548835 
NM_006231.3(POLE):c.6777G>C (p.Arg2259=)

rs540203276 
NM_006231.3(POLE):c.6795C>T (p.Tyr2265=)

rs142222159 
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser)

rs73481453 
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val)

rs148788180 
NM_006231.3(POLE):c.691C>T (p.Arg231Cys)

rs146592584 
NM_006231.3(POLE):c.712A>T (p.Ile238Phe)

rs536684123 
NM_006231.3(POLE):c.72154A>G


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

rs144422646 
NM_006231.3(POLE):c.73G>A (p.Ala25Thr)

rs773204331 
NM_006231.3(POLE):c.755C>T (p.Ala252Val)

rs5744751 
NM_006231.3(POLE):c.776G>A (p.Arg259His)

rs61732929 
NM_006231.3(POLE):c.779G>A (p.Arg260Gln)

rs5744752 
NM_006231.3(POLE):c.786C>T (p.Asp262=)

rs201223598 
NM_006231.3(POLE):c.797G>A (p.Arg266Gln)

rs115786159 
NM_006231.3(POLE):c.801+62C>T


NM_006231.3(POLE):c.801+78A>G


NM_006231.3(POLE):c.80271T>C


NM_006231.3(POLE):c.808G>A (p.Val270Met)

rs374237142 
NM_006231.3(POLE):c.823G>C (p.Asp275His)

rs879254218 
NM_006231.3(POLE):c.844C>T (p.Pro282Ser)

rs138207610 
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.850_851del (p.Lys284fs)

rs1555229421 
NM_006231.3(POLE):c.861T>A (p.Asp287Glu)

rs139075637 
NM_006231.3(POLE):c.87T>G (p.Val29=)

rs1565981775 
NM_006231.3(POLE):c.903T>C (p.Asp301=)


NM_006231.3(POLE):c.909G>C (p.Gln303His)


NM_006231.3(POLE):c.910157A>G


NM_006231.3(POLE):c.9106G>C

rs4077170 
NM_006231.3(POLE):c.912C>T (p.Gly304=)

rs1064794932 
NM_006231.3(POLE):c.91G>T (p.Ala31Ser)

rs34047482 
NM_006231.3(POLE):c.940T>G (p.Ser314Ala)

rs770403791 
NM_006231.3(POLE):c.941C>G (p.Ser314Ter)

rs869312803 
NM_006231.3(POLE):c.942A>C (p.Ser314=)

rs548933169 