ClinVar Miner

List of variants reported as uncertain significance for Progressive sclerosing poliodystrophy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1058
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala) rs754202777 0.00013
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_002693.3(POLG):c.744G>C (p.Glu248Asp) rs753407311 0.00010
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys) rs776437525 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp) rs2307442 0.00008
NM_002693.3(POLG):c.398A>G (p.Asp133Gly) rs540905618 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu) rs773994204 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser) rs796052904 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) rs74382477 0.00005
NM_002693.3(POLG):c.1499C>A (p.Ala500Asp) rs780901280 0.00005
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp) rs756952607 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.2638G>T (p.Ala880Ser) rs760842197 0.00005
NM_002693.3(POLG):c.1244T>G (p.Leu415Trp) rs376895501 0.00004
NM_002693.3(POLG):c.2050A>C (p.Asn684His) rs772035848 0.00004
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2101G>A (p.Ala701Thr) rs747214857 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.2509T>C (p.Tyr837His) rs544828395 0.00004
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_002693.3(POLG):c.3004G>A (p.Glu1002Lys) rs757987765 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro) rs569063066 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.3688T>G (p.Ser1230Ala) rs749355151 0.00004
NM_002693.3(POLG):c.487C>T (p.Pro163Ser) rs758454871 0.00004
NM_002693.3(POLG):c.863G>A (p.Arg288His) rs796052902 0.00004
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu) rs587780420 0.00003
NM_002693.3(POLG):c.1493A>C (p.Lys498Thr) rs769637557 0.00003
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr) rs745506700 0.00003
NM_002693.3(POLG):c.1627G>A (p.Val543Ile) rs763775923 0.00003
NM_002693.3(POLG):c.1637G>A (p.Arg546His) rs773418477 0.00003
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu) rs1227630175 0.00003
NM_002693.3(POLG):c.1949+3A>G rs1057523710 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr) rs1049107490 0.00003
NM_002693.3(POLG):c.2146C>T (p.Pro716Ser) rs796052883 0.00003
NM_002693.3(POLG):c.2152G>T (p.Ala718Ser) rs755783536 0.00003
NM_002693.3(POLG):c.2265+6T>A rs746650160 0.00003
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp) rs748777396 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys) rs768653086 0.00003
NM_002693.3(POLG):c.2884G>A (p.Ala962Thr) rs760305377 0.00003
NM_002693.3(POLG):c.2914C>T (p.Arg972Trp) rs762972003 0.00003
NM_002693.3(POLG):c.2959G>A (p.Ala987Thr) rs200258601 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.2986C>T (p.Arg996Trp) rs202229893 0.00003
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) rs770236576 0.00003
NM_002693.3(POLG):c.3212G>A (p.Arg1071His) rs774851005 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr) rs779956099 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3427G>C (p.Glu1143Gln) rs765123635 0.00003
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr) rs879135314 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002693.3(POLG):c.388C>T (p.Leu130Phe) rs201261842 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002693.3(POLG):c.895A>G (p.Met299Val) rs140262282 0.00003
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1262C>T (p.Pro421Leu) rs752240321 0.00002
NM_002693.3(POLG):c.1529C>T (p.Ala510Val) rs1252604834 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_002693.3(POLG):c.1709C>T (p.Pro570Leu) rs780695124 0.00002
NM_002693.3(POLG):c.1744G>A (p.Asp582Asn) rs746560565 0.00002
NM_002693.3(POLG):c.178C>A (p.Gln60Lys) rs780379693 0.00002
NM_002693.3(POLG):c.17G>C (p.Trp6Ser) rs1057524249 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.1849C>T (p.Arg617Cys) rs144374017 0.00002
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp) rs758438414 0.00002
NM_002693.3(POLG):c.1889A>G (p.Asn630Ser) rs796052905 0.00002
NM_002693.3(POLG):c.1910G>A (p.Gly637Asp) rs748925763 0.00002
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser) rs538978071 0.00002
NM_002693.3(POLG):c.2115G>A (p.Met705Ile) rs1302161574 0.00002
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln) rs1015705626 0.00002
NM_002693.3(POLG):c.2164C>T (p.Arg722Cys) rs763824242 0.00002
NM_002693.3(POLG):c.2354G>A (p.Gly785Asp) rs149058889 0.00002
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys) rs775168496 0.00002
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.2597G>A (p.Arg866Gln) rs779723962 0.00002
NM_002693.3(POLG):c.2727C>T (p.Gly909=) rs752611524 0.00002
NM_002693.3(POLG):c.2924A>G (p.Gln975Arg) rs972611793 0.00002
NM_002693.3(POLG):c.2993C>T (p.Ser998Leu) rs79840247 0.00002
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys) rs1412887168 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3203A>C (p.Asp1068Ala) rs774888597 0.00002
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg) rs369716454 0.00002
NM_002693.3(POLG):c.3368T>C (p.Phe1123Ser) rs1441495346 0.00002
NM_002693.3(POLG):c.3382C>T (p.Arg1128Cys) rs755544706 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_002693.3(POLG):c.3497A>G (p.Tyr1166Cys) rs754900596 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) rs779072487 0.00002
NM_002693.3(POLG):c.3G>C (p.Met1Ile) rs878877754 0.00002
NM_002693.3(POLG):c.452T>C (p.Leu151Pro) rs749018627 0.00002
NM_002693.3(POLG):c.544G>C (p.Gly182Arg) rs768242927 0.00002
NM_002693.3(POLG):c.547G>C (p.Glu183Gln) rs762582785 0.00002
NM_002693.3(POLG):c.56T>C (p.Val19Ala) rs770885465 0.00002
NM_002693.3(POLG):c.713A>G (p.Gln238Arg) rs56410699 0.00002
NM_002693.3(POLG):c.1022C>T (p.Ala341Val) rs746639234 0.00001
NM_002693.3(POLG):c.1024-11T>A rs111879000 0.00001
NM_002693.3(POLG):c.1054A>G (p.Ser352Gly) rs1326621426 0.00001
NM_002693.3(POLG):c.1057G>A (p.Val353Ile) rs1319774669 0.00001
NM_002693.3(POLG):c.1061A>G (p.Asn354Ser) rs148697152 0.00001
NM_002693.3(POLG):c.1084C>G (p.Leu362Val) rs763248358 0.00001
NM_002693.3(POLG):c.1087T>C (p.Tyr363His) rs1380215532 0.00001
NM_002693.3(POLG):c.1090G>A (p.Val364Ile) rs2055556252 0.00001
NM_002693.3(POLG):c.1100C>T (p.Pro367Leu) rs751761350 0.00001
NM_002693.3(POLG):c.1141A>G (p.Thr381Ala) rs772748692 0.00001
NM_002693.3(POLG):c.1157G>A (p.Arg386His) rs1394411503 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.1189G>A (p.Ala397Thr) rs748412462 0.00001
NM_002693.3(POLG):c.1251G>A (p.Arg417=) rs1567191509 0.00001
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) rs758112770 0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro) rs774610098 0.00001
NM_002693.3(POLG):c.1300T>C (p.Tyr434His) rs775538075 0.00001
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys) rs747485523 0.00001
NM_002693.3(POLG):c.1349G>T (p.Gly450Val) rs757804090 0.00001
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp) rs766242100 0.00001
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln) rs372911506 0.00001
NM_002693.3(POLG):c.1443A>C (p.Glu481Asp) rs1325331080 0.00001
NM_002693.3(POLG):c.1448C>T (p.Pro483Leu) rs767900699 0.00001
NM_002693.3(POLG):c.1477C>G (p.Gln493Glu) rs1404711461 0.00001
NM_002693.3(POLG):c.148C>A (p.Gln50Lys) rs752556685 0.00001
NM_002693.3(POLG):c.1540C>G (p.Pro514Ala) rs756376617 0.00001
NM_002693.3(POLG):c.1543A>G (p.Ile515Val) rs748919988 0.00001
NM_002693.3(POLG):c.1565G>C (p.Gly522Ala) rs769410234 0.00001
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) rs754246294 0.00001
NM_002693.3(POLG):c.1600A>G (p.Ser534Gly) rs201097813 0.00001
NM_002693.3(POLG):c.1639G>A (p.Ala547Thr) rs779353857 0.00001
NM_002693.3(POLG):c.1655T>C (p.Leu552Pro) rs2055522665 0.00001
NM_002693.3(POLG):c.1663A>T (p.Thr555Ser) rs145496284 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1671G>C (p.Glu557Asp) rs780365511 0.00001
NM_002693.3(POLG):c.1672C>G (p.Leu558Val) rs1411219168 0.00001
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln) rs746406535 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1795A>C (p.Thr599Pro) rs1064796458 0.00001
NM_002693.3(POLG):c.1870G>A (p.Val624Met) rs1362000189 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln) rs201871736 0.00001
NM_002693.3(POLG):c.188C>T (p.Ser63Phe) rs960812250 0.00001
NM_002693.3(POLG):c.1894G>A (p.Ala632Thr) rs908875872 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.1946A>T (p.Tyr649Phe) rs972392438 0.00001
NM_002693.3(POLG):c.1974G>C (p.Lys658Asn) rs1229982179 0.00001
NM_002693.3(POLG):c.1976A>C (p.His659Pro) rs1325564562 0.00001
NM_002693.3(POLG):c.199G>A (p.Gly67Arg) rs1415744247 0.00001
NM_002693.3(POLG):c.1A>G (p.Met1Val) rs201786897 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2026G>A (p.Ala676Thr) rs752293938 0.00001
NM_002693.3(POLG):c.2033A>G (p.Glu678Gly) rs1469478675 0.00001
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser) rs1328436909 0.00001
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg) rs774599342 0.00001
NM_002693.3(POLG):c.2194T>C (p.Tyr732His) rs1470138488 0.00001
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys) rs760305786 0.00001
NM_002693.3(POLG):c.2201A>G (p.His734Arg) rs56119329 0.00001
NM_002693.3(POLG):c.2215T>C (p.Tyr739His) rs796052885 0.00001
NM_002693.3(POLG):c.2216A>T (p.Tyr739Phe) rs1365039710 0.00001
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn) rs751736420 0.00001
NM_002693.3(POLG):c.2224G>A (p.Val742Met) rs147827654 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2266-3C>T rs777809569 0.00001
NM_002693.3(POLG):c.2392A>C (p.Ile798Leu) rs796052873 0.00001
NM_002693.3(POLG):c.2444G>T (p.Trp815Leu) rs2055404128 0.00001
NM_002693.3(POLG):c.2467C>T (p.Arg823Cys) rs757835879 0.00001
NM_002693.3(POLG):c.2471C>T (p.Ala824Val) rs1378795521 0.00001
NM_002693.3(POLG):c.2474T>C (p.Val825Ala) rs763453929 0.00001
NM_002693.3(POLG):c.2480+5G>C rs1229969606 0.00001
NM_002693.3(POLG):c.2483A>G (p.His828Arg) rs533807211 0.00001
NM_002693.3(POLG):c.2496T>G (p.Asp832Glu) rs762985241 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) rs771254207 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2598+15T>G rs1057520997 0.00001
NM_002693.3(POLG):c.2599C>G (p.Pro867Ala) rs1230595198 0.00001
NM_002693.3(POLG):c.2600C>G (p.Pro867Arg) rs780880601 0.00001
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) rs1329611992 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2651A>G (p.Tyr884Cys) rs1057519140 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.2713G>A (p.Ala905Thr) rs747156457 0.00001
NM_002693.3(POLG):c.2725G>A (p.Gly909Ser) rs758419140 0.00001
NM_002693.3(POLG):c.2778C>G (p.Ser926Arg) rs1347519358 0.00001
NM_002693.3(POLG):c.2782G>A (p.Gly928Ser) rs759944038 0.00001
NM_002693.3(POLG):c.2815G>A (p.Val939Met) rs748045254 0.00001
NM_002693.3(POLG):c.282G>A (p.Met94Ile) rs753739487 0.00001
NM_002693.3(POLG):c.2860A>G (p.Ile954Val) rs778008501 0.00001
NM_002693.3(POLG):c.2891G>A (p.Arg964His) rs767339769 0.00001
NM_002693.3(POLG):c.2978G>A (p.Arg993His) rs546883829 0.00001
NM_002693.3(POLG):c.2982-3C>T rs538731397 0.00001
NM_002693.3(POLG):c.2984A>G (p.Tyr995Cys) rs749458217 0.00001
NM_002693.3(POLG):c.3001G>A (p.Gly1001Ser) rs1469484812 0.00001
NM_002693.3(POLG):c.3006G>C (p.Glu1002Asp) rs990343459 0.00001
NM_002693.3(POLG):c.3017G>A (p.Arg1006Lys) rs142732551 0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071 0.00001
NM_002693.3(POLG):c.3040A>G (p.Arg1014Gly) rs764195223 0.00001
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys) rs763290547 0.00001
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys) rs201014720 0.00001
NM_002693.3(POLG):c.3140G>A (p.Arg1047Gln) rs768028281 0.00001
NM_002693.3(POLG):c.3170T>C (p.Met1057Thr) rs966144250 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu) rs373316463 0.00001
NM_002693.3(POLG):c.3259G>A (p.Ala1087Thr) rs752254929 0.00001
NM_002693.3(POLG):c.3273+6T>A rs886051522 0.00001
NM_002693.3(POLG):c.3276T>G (p.Phe1092Leu) rs74034411 0.00001
NM_002693.3(POLG):c.3279G>A (p.Met1093Ile) rs1238487198 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.3334A>T (p.Met1112Leu) rs767168260 0.00001
NM_002693.3(POLG):c.3346A>G (p.Met1116Val) rs201144044 0.00001
NM_002693.3(POLG):c.337T>A (p.Trp113Arg) rs746450616 0.00001
NM_002693.3(POLG):c.3413G>A (p.Arg1138His) rs756879546 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3443G>A (p.Arg1148His) rs145004638 0.00001
NM_002693.3(POLG):c.3463A>G (p.Ile1155Val) rs749640920 0.00001
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile) rs1278715599 0.00001
NM_002693.3(POLG):c.3483-12_3498dup rs2055313419 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.352G>A (p.Val118Met) rs778608349 0.00001
NM_002693.3(POLG):c.355C>T (p.Pro119Ser) rs1420577605 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3589T>C (p.Cys1197Arg) rs1426811174 0.00001
NM_002693.3(POLG):c.360G>T (p.Leu120Phe) rs886043905 0.00001
NM_002693.3(POLG):c.3613G>A (p.Gly1205Arg) rs2055308219 0.00001
NM_002693.3(POLG):c.3628T>C (p.Tyr1210His) rs747627023 0.00001
NM_002693.3(POLG):c.3631G>A (p.Gly1211Arg) rs768181189 0.00001
NM_002693.3(POLG):c.3638C>T (p.Pro1213Leu) rs1338265836 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.3656A>G (p.Asp1219Gly) rs776506626 0.00001
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) rs775517153 0.00001
NM_002693.3(POLG):c.3712G>C (p.Gly1238Arg) rs1024234712 0.00001
NM_002693.3(POLG):c.38C>G (p.Thr13Ser) rs1199924512 0.00001
NM_002693.3(POLG):c.395G>A (p.Gly132Glu) rs1060500774 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.413A>C (p.His138Pro) rs766932926 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.475C>G (p.Gln159Glu) rs1487941216 0.00001
NM_002693.3(POLG):c.479C>T (p.Ala160Val) rs1304711656 0.00001
NM_002693.3(POLG):c.488C>T (p.Pro163Leu) rs752892262 0.00001
NM_002693.3(POLG):c.490C>G (p.Pro164Ala) rs779208296 0.00001
NM_002693.3(POLG):c.542A>C (p.Glu181Ala) rs761349383 0.00001
NM_002693.3(POLG):c.565A>G (p.Ile189Val) rs769547245 0.00001
NM_002693.3(POLG):c.577C>T (p.Arg193Trp) rs772048616 0.00001
NM_002693.3(POLG):c.581C>T (p.Ala194Val) rs779122022 0.00001
NM_002693.3(POLG):c.583C>A (p.Leu195Met) rs997971133 0.00001
NM_002693.3(POLG):c.584T>C (p.Leu195Pro) rs794727267 0.00001
NM_002693.3(POLG):c.598G>C (p.Glu200Gln) rs756447384 0.00001
NM_002693.3(POLG):c.602T>G (p.Val201Gly) rs750928338 0.00001
NM_002693.3(POLG):c.609G>C (p.Leu203Phe) rs796052900 0.00001
NM_002693.3(POLG):c.64C>T (p.Pro22Ser) rs568058975 0.00001
NM_002693.3(POLG):c.653C>T (p.Ser218Leu) rs1060500775 0.00001
NM_002693.3(POLG):c.659+4A>G rs1260147650 0.00001
NM_002693.3(POLG):c.659G>C (p.Trp220Ser) rs1004988362 0.00001
NM_002693.3(POLG):c.67G>A (p.Gly23Arg) rs1422899388 0.00001
NM_002693.3(POLG):c.809A>G (p.Asn270Ser) rs1363908609 0.00001
NM_002693.3(POLG):c.833T>C (p.Ile278Thr) rs779502496 0.00001
NM_002693.3(POLG):c.851T>C (p.Ile284Thr) rs2055574542 0.00001
NM_002693.3(POLG):c.855G>C (p.Gln285His) rs141367015 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_002693.3(POLG):c.971C>G (p.Pro324Arg) rs764492040 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NC_000015.10:g.(?_89316731)_(89316847_?)del
NC_000015.9:g.(?_89859982)_(89876985_?)dup
NC_000015.9:g.(?_89868661)_(89873527_?)dup
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer)
NM_002693.3(POLG):c.1007C>T (p.Ala336Val)
NM_002693.3(POLG):c.1022_1023delinsAT (p.Ala341Asp) rs2055559226
NM_002693.3(POLG):c.1023+13T>G rs201874835
NM_002693.3(POLG):c.1023+16C>A
NM_002693.3(POLG):c.1023+18G>A
NM_002693.3(POLG):c.1024-3C>T rs2152068001
NM_002693.3(POLG):c.1036G>T (p.Asp346Tyr) rs2152067994
NM_002693.3(POLG):c.104C>T (p.Pro35Leu) rs769214289
NM_002693.3(POLG):c.1055G>T (p.Ser352Ile)
NM_002693.3(POLG):c.1057G>T (p.Val353Phe)
NM_002693.3(POLG):c.1060A>G (p.Asn354Asp) rs796052916
NM_002693.3(POLG):c.1066C>G (p.Leu356Val) rs371431444
NM_002693.3(POLG):c.1076T>C (p.Val359Ala)
NM_002693.3(POLG):c.107G>C (p.Ser36Thr)
NM_002693.3(POLG):c.1082G>C (p.Arg361Thr)
NM_002693.3(POLG):c.1083A>C (p.Arg361Ser)
NM_002693.3(POLG):c.1091T>C (p.Val364Ala)
NM_002693.3(POLG):c.1094G>A (p.Gly365Glu)
NM_002693.3(POLG):c.1094G>C (p.Gly365Ala) rs781181789
NM_002693.3(POLG):c.1096G>A (p.Gly366Arg) rs1340995594
NM_002693.3(POLG):c.1097G>A (p.Gly366Glu)
NM_002693.3(POLG):c.1100C>A (p.Pro367His)
NM_002693.3(POLG):c.1103C>T (p.Pro368Leu) rs777985236
NM_002693.3(POLG):c.1109A>G (p.Glu370Gly)
NM_002693.3(POLG):c.1116G>C (p.Glu372Asp)
NM_002693.3(POLG):c.1118C>G (p.Pro373Arg)
NM_002693.3(POLG):c.1121G>A (p.Arg374Gln) rs1202773554
NM_002693.3(POLG):c.112G>A (p.Gly38Arg) rs866945104
NM_002693.3(POLG):c.112G>C (p.Gly38Arg) rs866945104
NM_002693.3(POLG):c.1139G>T (p.Gly380Val)
NM_002693.3(POLG):c.113G>A (p.Gly38Glu) rs1403540142
NM_002693.3(POLG):c.1144A>G (p.Met382Val)
NM_002693.3(POLG):c.1150G>C (p.Asp384His) rs2055555179
NM_002693.3(POLG):c.1151A>G (p.Asp384Gly)
NM_002693.3(POLG):c.1153A>G (p.Ile385Val)
NM_002693.3(POLG):c.1156C>G (p.Arg386Gly)
NM_002693.3(POLG):c.1167C>A (p.Phe389Leu)
NM_002693.3(POLG):c.116_118del (p.Gln39del) rs763663907
NM_002693.3(POLG):c.1170+3A>G
NM_002693.3(POLG):c.1170+6G>A rs749250690
NM_002693.3(POLG):c.1170+6G>T
NM_002693.3(POLG):c.1190C>T (p.Ala397Val)
NM_002693.3(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_002693.3(POLG):c.119G>T (p.Arg40Leu) rs200946722
NM_002693.3(POLG):c.119GGC[1] (p.Arg41_Arg42del)
NM_002693.3(POLG):c.119GGC[5] (p.Arg41_Arg42dup) rs761080016
NM_002693.3(POLG):c.119_130del (p.Arg40_Gln43del) rs1274859892
NM_002693.3(POLG):c.119_133del (p.Arg40_Gln44del)
NM_002693.3(POLG):c.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.1214A>G (p.Glu405Gly)
NM_002693.3(POLG):c.1216G>A (p.Val406Ile)
NM_002693.3(POLG):c.1220T>C (p.Phe407Ser) rs749715845
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del) rs765446994
NM_002693.3(POLG):c.1229A>T (p.Gln410Leu) rs2055552006
NM_002693.3(POLG):c.1235C>A (p.Pro412Gln)
NM_002693.3(POLG):c.1235C>G (p.Pro412Arg)
NM_002693.3(POLG):c.1239CTT[1] (p.Phe414del) rs2055551786
NM_002693.3(POLG):c.1247A>G (p.Glu416Gly)
NM_002693.3(POLG):c.1250+5G>A
NM_002693.3(POLG):c.125_133del (p.Arg42_Gln44del)
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del) rs780010436
NM_002693.3(POLG):c.125_145del (p.Arg42_Gln48del)
NM_002693.3(POLG):c.125_145dup (p.Arg42_Gln48dup) rs758359050
NM_002693.3(POLG):c.1264G>T (p.Val422Leu)
NM_002693.3(POLG):c.126GCA[16] (p.Gln51_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[18] (p.Gln49_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[20] (p.Gln47_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[21] (p.Gln46_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[3] (p.Gln48_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del) rs41550117
NM_002693.3(POLG):c.1270C>G (p.Leu424Val) rs2055536253
NM_002693.3(POLG):c.1274C>A (p.Ala425Asp)
NM_002693.3(POLG):c.1276G>C (p.Gly426Arg) rs775576189
NM_002693.3(POLG):c.1279A>G (p.Met427Val) rs996158882
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln) rs776122200
NM_002693.3(POLG):c.127_128insGGCGGCAGC (p.Arg42_Gln43insArgArgGln)
NM_002693.3(POLG):c.1280T>C (p.Met427Thr) rs1596358489
NM_002693.3(POLG):c.1292G>C (p.Gly431Ala)
NM_002693.3(POLG):c.1292G>T (p.Gly431Val)
NM_002693.3(POLG):c.1298C>T (p.Ser433Phe)
NM_002693.3(POLG):c.1303C>G (p.Leu435Val) rs2152067129
NM_002693.3(POLG):c.1307C>T (p.Pro436Leu)
NM_002693.3(POLG):c.130_131insGGC (p.Gln43_Gln44insArg) rs1555454345
NM_002693.3(POLG):c.1324G>A (p.Glu442Lys)
NM_002693.3(POLG):c.132G>T (p.Gln44His) rs1596362738
NM_002693.3(POLG):c.1333C>G (p.Leu445Val)
NM_002693.3(POLG):c.1336_1337delinsTT (p.Ala446Leu) rs2152067113
NM_002693.3(POLG):c.1339G>A (p.Glu447Lys) rs2055535022
NM_002693.3(POLG):c.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg) rs1567194472
NM_002693.3(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg) rs1567194455
NM_002693.3(POLG):c.1352C>T (p.Thr451Ile)
NM_002693.3(POLG):c.1355A>G (p.Tyr452Cys) rs2152067095
NM_002693.3(POLG):c.135G>C (p.Gln45His)
NM_002693.3(POLG):c.1364T>C (p.Leu455Pro)
NM_002693.3(POLG):c.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln) rs2055628450
NM_002693.3(POLG):c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln) rs2055628450
NM_002693.3(POLG):c.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln) rs2141816159
NM_002693.3(POLG):c.1377G>A (p.Met459Ile)
NM_002693.3(POLG):c.1378AAG[1] (p.Lys461del)
NM_002693.3(POLG):c.1379_1390del (p.Lys460_Leu463del)
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.1381_1382delinsTC (p.Lys461Ser) rs796052920
NM_002693.3(POLG):c.1385C>T (p.Ser462Leu) rs762878459
NM_002693.3(POLG):c.1389G>C (p.Leu463Phe) rs150828914
NM_002693.3(POLG):c.1393G>T (p.Asp465Tyr) rs2152067076
NM_002693.3(POLG):c.139C>G (p.Gln47Glu)
NM_002693.3(POLG):c.140_141insACA (p.Gln55dup) rs1397675423
NM_002693.3(POLG):c.1412G>C (p.Cys471Ser)
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys) rs1225242680
NM_002693.3(POLG):c.142C>G (p.Gln48Glu)
NM_002693.3(POLG):c.1431G>C (p.Glu477Asp) rs1047926345
NM_002693.3(POLG):c.1433+18G>A
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1433+6C>T
NM_002693.3(POLG):c.1434-15G>A
NM_002693.3(POLG):c.1438A>G (p.Lys480Glu)
NM_002693.3(POLG):c.1439A>G (p.Lys480Arg) rs760878504
NM_002693.3(POLG):c.143A>G (p.Gln48Arg) rs2141816053
NM_002693.3(POLG):c.143_144insCCAGCA (p.Gln47_Gln48insHisGln) rs2055627759
NM_002693.3(POLG):c.143_166del (p.Gln48_Gln55del)
NM_002693.3(POLG):c.1440AGA[1] (p.Glu481del) rs2152066975
NM_002693.3(POLG):c.1452_1453delinsTT (p.Trp484_Leu485delinsCysPhe)
NM_002693.3(POLG):c.1459G>A (p.Asp487Asn)
NM_002693.3(POLG):c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.1486A>G (p.Lys496Glu)
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1493A>G (p.Lys498Arg) rs769637557
NM_002693.3(POLG):c.149_166dup (p.Gln50_Gln55dup) rs773536141
NM_002693.3(POLG):c.1501A>G (p.Lys501Glu)
NM_002693.3(POLG):c.1501AAG[1] (p.Lys502del)
NM_002693.3(POLG):c.1506G>A (p.Lys502=)
NM_002693.3(POLG):c.1518A>C (p.Glu506Asp)
NM_002693.3(POLG):c.151C>G (p.Gln51Glu)
NM_002693.3(POLG):c.1526C>T (p.Thr509Ile)
NM_002693.3(POLG):c.1528G>A (p.Ala510Thr)
NM_002693.3(POLG):c.152A>G (p.Gln51Arg) rs1478709276
NM_002693.3(POLG):c.152_153insACA (p.Gln55dup) rs1466061893
NM_002693.3(POLG):c.152_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.1532G>C (p.Ser511Thr)
NM_002693.3(POLG):c.1533C>T (p.Ser511=)
NM_002693.3(POLG):c.1543A>C (p.Ile515Leu) rs748919988
NM_002693.3(POLG):c.1547_1549del (p.Glu516del) rs781424514
NM_002693.3(POLG):c.1549G>T (p.Gly517Trp) rs1015831792
NM_002693.3(POLG):c.1550G>A (p.Gly517Glu)
NM_002693.3(POLG):c.1552G>A (p.Ala518Thr) rs1596358124
NM_002693.3(POLG):c.1558G>A (p.Ala520Thr) rs764756949
NM_002693.3(POLG):c.1559C>T (p.Ala520Val)
NM_002693.3(POLG):c.155_156insTCA (p.Gln51_Gln52insHis) rs573261648
NM_002693.3(POLG):c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)
NM_002693.3(POLG):c.1562C>T (p.Pro521Leu)
NM_002693.3(POLG):c.156G>C (p.Gln52His) rs587781117
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.1579C>G (p.Gln527Glu)
NM_002693.3(POLG):c.1585+5G>A
NM_002693.3(POLG):c.1585+6G>A
NM_002693.3(POLG):c.1588C>T (p.Leu530Phe) rs1024469208
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) rs527965158
NM_002693.3(POLG):c.158_159insGCAACA (p.Gln54_Gln55dup) rs1555454333
NM_002693.3(POLG):c.1591G>T (p.Gly531Cys) rs796052904
NM_002693.3(POLG):c.159delinsGCAACAGCAGCCT (p.Gln55_Pro56insGlnProGlnGln) rs1596362608
NM_002693.3(POLG):c.1603G>A (p.Glu535Lys) rs2055524067
NM_002693.3(POLG):c.1603GAG[3] (p.Glu538del) rs1304341853
NM_002693.3(POLG):c.1607A>G (p.Glu536Gly) rs1596357858
NM_002693.3(POLG):c.1612G>A (p.Glu538Lys)
NM_002693.3(POLG):c.1612_1613delinsTT (p.Glu538Leu) rs796052921
NM_002693.3(POLG):c.1618C>G (p.Gln540Glu)
NM_002693.3(POLG):c.161AGC[1] (p.Gln55del)
NM_002693.3(POLG):c.161AGC[3] (p.Gln55_Pro56insGln)
NM_002693.3(POLG):c.161AGC[4] (p.Gln55_Pro56insGlnGln)
NM_002693.3(POLG):c.1633G>T (p.Ala545Ser)
NM_002693.3(POLG):c.1636C>G (p.Arg546Gly) rs2307447
NM_002693.3(POLG):c.1639G>T (p.Ala547Ser) rs779353857
NM_002693.3(POLG):c.1643G>A (p.Cys548Tyr) rs2152066680
NM_002693.3(POLG):c.1652A>G (p.Lys551Arg) rs1596357794
NM_002693.3(POLG):c.1658A>G (p.Lys553Arg)
NM_002693.3(POLG):c.1664C>T (p.Thr555Ile) rs749805848
NM_002693.3(POLG):c.1670A>G (p.Glu557Gly)
NM_002693.3(POLG):c.1679C>T (p.Pro560Leu) rs2055522032
NM_002693.3(POLG):c.167C>G (p.Pro56Arg) rs1022612492
NM_002693.3(POLG):c.167C>T (p.Pro56Leu)
NM_002693.3(POLG):c.1682A>G (p.Lys561Arg) rs1350960257
NM_002693.3(POLG):c.1685G>T (p.Arg562Leu)
NM_002693.3(POLG):c.1687C>T (p.Pro563Ser)
NM_002693.3(POLG):c.1688C>T (p.Pro563Leu)
NM_002693.3(POLG):c.168_176dup (p.55QPQ[3]) rs771937417
NM_002693.3(POLG):c.1696C>A (p.Leu566Ile) rs559937676
NM_002693.3(POLG):c.1709C>G (p.Pro570Arg) rs780695124
NM_002693.3(POLG):c.1712+4A>C rs1555453528
NM_002693.3(POLG):c.1712+6C>T
NM_002693.3(POLG):c.1712G>C (p.Gly571Ala)
NM_002693.3(POLG):c.1713-16T>G
NM_002693.3(POLG):c.1716G>T (p.Trp572Cys)
NM_002693.3(POLG):c.1723A>C (p.Lys575Gln) rs1379482879
NM_002693.3(POLG):c.1732C>A (p.Pro578Thr) rs775769107
NM_002693.3(POLG):c.1738C>G (p.Leu580Val) rs2152065984
NM_002693.3(POLG):c.1742A>G (p.Asp581Gly)
NM_002693.3(POLG):c.1746C>A (p.Asp582Glu)
NM_002693.3(POLG):c.1747C>T (p.Pro583Ser)
NM_002693.3(POLG):c.1750G>T (p.Ala584Ser)
NM_002693.3(POLG):c.1753T>A (p.Trp585Arg) rs2152065960
NM_002693.3(POLG):c.1756A>G (p.Thr586Ala) rs1596357095
NM_002693.3(POLG):c.1757C>T (p.Thr586Ile)
NM_002693.3(POLG):c.176C>T (p.Pro59Leu) rs1057518590
NM_002693.3(POLG):c.1772T>G (p.Leu591Arg) rs756072588
NM_002693.3(POLG):c.1774C>T (p.Leu592Phe)
NM_002693.3(POLG):c.1780C>G (p.Leu594Val)
NM_002693.3(POLG):c.1781T>C (p.Leu594Pro) rs2055505934
NM_002693.3(POLG):c.1798C>A (p.Pro600Thr)
NM_002693.3(POLG):c.1798C>T (p.Pro600Ser) rs759840237
NM_002693.3(POLG):c.179A>C (p.Gln60Pro)
NM_002693.3(POLG):c.1810G>A (p.Ala604Thr)
NM_002693.3(POLG):c.1811C>T (p.Ala604Val) rs1433922299
NM_002693.3(POLG):c.1813C>G (p.Leu605Val)
NM_002693.3(POLG):c.1814_1815delinsGC (p.Leu605Arg) rs2152065907
NM_002693.3(POLG):c.1831C>T (p.Pro611Ser)
NM_002693.3(POLG):c.1837C>G (p.His613Asp)
NM_002693.3(POLG):c.1838A>G (p.His613Arg)
NM_002693.3(POLG):c.1840T>C (p.Tyr614His)
NM_002693.3(POLG):c.1844C>T (p.Ser615Leu)
NM_002693.3(POLG):c.1850G>C (p.Arg617Pro)
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.1865A>C (p.Tyr622Ser) rs892010680
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.187T>C (p.Ser63Pro) rs781006710
NM_002693.3(POLG):c.1885G>C (p.Asp629His) rs1555453424
NM_002693.3(POLG):c.1886A>C (p.Asp629Ala) rs1039182766
NM_002693.3(POLG):c.1887C>G (p.Asp629Glu) rs886051524
NM_002693.3(POLG):c.1899G>C (p.Lys633Asn)
NM_002693.3(POLG):c.189_191del (p.Ser64del) rs2141815620
NM_002693.3(POLG):c.1909G>C (p.Gly637Arg)
NM_002693.3(POLG):c.1909G>T (p.Gly637Cys) rs2152065820
NM_002693.3(POLG):c.1912A>G (p.Thr638Ala) rs1567190199
NM_002693.3(POLG):c.1915A>G (p.Thr639Ala)
NM_002693.3(POLG):c.191C>T (p.Ser64Leu)
NM_002693.3(POLG):c.1930G>A (p.Gly644Arg) rs1156534099
NM_002693.3(POLG):c.1930G>C (p.Gly644Arg)
NM_002693.3(POLG):c.1933G>T (p.Val645Leu)
NM_002693.3(POLG):c.1937T>G (p.Val646Gly)
NM_002693.3(POLG):c.1950-3C>T rs750837914
NM_002693.3(POLG):c.1950A>G (p.Arg650=)
NM_002693.3(POLG):c.1954A>G (p.Ile652Val) rs767751301
NM_002693.3(POLG):c.1958A>T (p.Glu653Val) rs752073900
NM_002693.3(POLG):c.1966T>A (p.Tyr656Asn) rs2152063453
NM_002693.3(POLG):c.1976A>G (p.His659Arg)
NM_002693.3(POLG):c.1978T>G (p.Cys660Gly)
NM_002693.3(POLG):c.1980T>G (p.Cys660Trp)
NM_002693.3(POLG):c.1981C>G (p.Leu661Val) rs2152063439
NM_002693.3(POLG):c.1991G>A (p.Gly664Glu) rs773073959
NM_002693.3(POLG):c.1997A>T (p.Gln666Leu) rs62640029
NM_002693.3(POLG):c.199G>C (p.Gly67Arg)
NM_002693.3(POLG):c.19A>T (p.Arg7Trp)
NM_002693.3(POLG):c.2008C>G (p.Pro670Ala)
NM_002693.3(POLG):c.2014G>A (p.Glu672Lys) rs779964885
NM_002693.3(POLG):c.2029G>C (p.Glu677Gln)
NM_002693.3(POLG):c.2034G>T (p.Glu678Asp)
NM_002693.3(POLG):c.203A>T (p.Gln68Leu) rs1171419088
NM_002693.3(POLG):c.2047G>A (p.Asp683Asn)
NM_002693.3(POLG):c.2047G>C (p.Asp683His) rs2055438033
NM_002693.3(POLG):c.2048A>T (p.Asp683Val)
NM_002693.3(POLG):c.204G>C (p.Gln68His)
NM_002693.3(POLG):c.2054G>A (p.Ser685Asn) rs775662032
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2062T>C (p.Trp688Arg) rs2055437637
NM_002693.3(POLG):c.2070+8C>T
NM_002693.3(POLG):c.2070G>A (p.Thr690=)
NM_002693.3(POLG):c.2071-19G>A rs1042766729
NM_002693.3(POLG):c.2071G>A (p.Val691Ile) rs2152063222
NM_002693.3(POLG):c.2072T>C (p.Val691Ala)
NM_002693.3(POLG):c.2073A>C (p.Val691=)
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2075A>C (p.Glu692Ala)
NM_002693.3(POLG):c.2075A>G (p.Glu692Gly)
NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)
NM_002693.3(POLG):c.2089T>A (p.Leu697Ile)
NM_002693.3(POLG):c.2093A>G (p.Glu698Gly)
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2095G>A (p.Val699Met)
NM_002693.3(POLG):c.2098G>C (p.Glu700Gln)
NM_002693.3(POLG):c.209G>A (p.Arg70Gln) rs1031558097
NM_002693.3(POLG):c.2113A>G (p.Met705Val) rs2152063192
NM_002693.3(POLG):c.2113A>T (p.Met705Leu)
NM_002693.3(POLG):c.211C>T (p.His71Tyr)
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2125C>G (p.Arg709Gly) rs867038717
NM_002693.3(POLG):c.2128G>A (p.Ala710Thr)
NM_002693.3(POLG):c.2129C>T (p.Ala710Val) rs2152063179
NM_002693.3(POLG):c.212A>G (p.His71Arg)
NM_002693.3(POLG):c.2134G>A (p.Val712Met) rs748834542
NM_002693.3(POLG):c.2134G>T (p.Val712Leu)
NM_002693.3(POLG):c.2137C>T (p.Pro713Ser)
NM_002693.3(POLG):c.2140G>A (p.Gly714Ser) rs2055433258
NM_002693.3(POLG):c.2141G>C (p.Gly714Ala) rs2152063163
NM_002693.3(POLG):c.2145A>T (p.Gln715His) rs796052882
NM_002693.3(POLG):c.2146C>A (p.Pro716Thr)
NM_002693.3(POLG):c.2147C>T (p.Pro716Leu)
NM_002693.3(POLG):c.2153C>T (p.Ala718Val) rs750036881
NM_002693.3(POLG):c.2157+6C>T rs1596354603
NM_002693.3(POLG):c.2157G>A (p.Leu719=) rs2055432894
NM_002693.3(POLG):c.215A>G (p.Asn72Ser) rs796052897
NM_002693.3(POLG):c.2165G>C (p.Arg722Pro) rs185645212
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu) rs185645212
NM_002693.3(POLG):c.2167G>A (p.Gly723Ser) rs762070650
NM_002693.3(POLG):c.2167G>C (p.Gly723Arg) rs762070650
NM_002693.3(POLG):c.2167G>T (p.Gly723Cys) rs762070650
NM_002693.3(POLG):c.2168G>T (p.Gly723Val) rs2055428060
NM_002693.3(POLG):c.2179G>T (p.Asp727Tyr) rs2152062930
NM_002693.3(POLG):c.2183C>G (p.Thr728Ser)
NM_002693.3(POLG):c.2187G>C (p.Gln729His) rs539787090
NM_002693.3(POLG):c.218C>T (p.Pro73Leu)
NM_002693.3(POLG):c.2191A>G (p.Ser731Gly)
NM_002693.3(POLG):c.2200C>G (p.His734Asp)
NM_002693.3(POLG):c.2203G>C (p.Gly735Arg)
NM_002693.3(POLG):c.2218_2220del (p.Asn740del)
NM_002693.3(POLG):c.2240G>A (p.Cys747Tyr) rs1596354250
NM_002693.3(POLG):c.2245T>G (p.Phe749Val)
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2257C>A (p.Pro753Thr) rs1446536384
NM_002693.3(POLG):c.2258C>G (p.Pro753Arg)
NM_002693.3(POLG):c.2265+17G>A rs2152062840
NM_002693.3(POLG):c.2265+5G>A rs2055426347
NM_002693.3(POLG):c.2265+5G>C rs2055426347
NM_002693.3(POLG):c.2266-16C>T
NM_002693.3(POLG):c.2273A>G (p.Asn758Ser) rs2152062441
NM_002693.3(POLG):c.2281A>G (p.Asn761Asp)
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2294C>T (p.Pro765Leu)
NM_002693.3(POLG):c.2299G>A (p.Ala767Thr)
NM_002693.3(POLG):c.2302A>G (p.Lys768Glu)
NM_002693.3(POLG):c.2309T>C (p.Phe770Ser)
NM_002693.3(POLG):c.2314C>T (p.Pro772Ser) rs2152062414
NM_002693.3(POLG):c.2318A>G (p.Lys773Arg) rs1331031308
NM_002693.3(POLG):c.231G>C (p.Gln77His)
NM_002693.3(POLG):c.231G>T (p.Gln77His)
NM_002693.3(POLG):c.2322G>A (p.Met774Ile) rs754144065
NM_002693.3(POLG):c.2322G>C (p.Met774Ile)
NM_002693.3(POLG):c.2324A>G (p.Glu775Gly) rs2152062411
NM_002693.3(POLG):c.2341G>T (p.Ala781Ser)
NM_002693.3(POLG):c.2345G>T (p.Gly782Val)
NM_002693.3(POLG):c.2353G>A (p.Gly785Ser)
NM_002693.3(POLG):c.2360G>C (p.Ser787Thr)
NM_002693.3(POLG):c.2387A>G (p.Lys796Arg) rs2055414967
NM_002693.3(POLG):c.2392A>G (p.Ile798Val) rs796052873
NM_002693.3(POLG):c.2399T>C (p.Phe800Ser)
NM_002693.3(POLG):c.2405G>A (p.Arg802Lys) rs545622947
NM_002693.3(POLG):c.2410G>C (p.Ala804Pro)
NM_002693.3(POLG):c.2413C>T (p.His805Tyr)
NM_002693.3(POLG):c.2416A>C (p.Lys806Gln)
NM_002693.3(POLG):c.241A>G (p.Arg81Gly) rs764544892
NM_002693.3(POLG):c.2424C>G (p.Ile808Met) rs1567187747
NM_002693.3(POLG):c.2425A>C (p.Ser809Arg) rs2055414422
NM_002693.3(POLG):c.2426+6C>T rs2055414347
NM_002693.3(POLG):c.2426G>C (p.Ser809Thr)
NM_002693.3(POLG):c.2435T>C (p.Met812Thr)
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.2440G>C (p.Val814Leu)
NM_002693.3(POLG):c.2445G>C (p.Trp815Cys)
NM_002693.3(POLG):c.244G>A (p.Gly82Arg) rs139134661
NM_002693.3(POLG):c.244G>T (p.Gly82Trp) rs139134661
NM_002693.3(POLG):c.2450C>T (p.Pro817Leu)
NM_002693.3(POLG):c.2452A>G (p.Arg818Gly)
NM_002693.3(POLG):c.2454G>T (p.Arg818Ser)
NM_002693.3(POLG):c.2458G>A (p.Ala820Thr)
NM_002693.3(POLG):c.2473G>T (p.Val825Leu) rs1344797678
NM_002693.3(POLG):c.2474T>G (p.Val825Gly)
NM_002693.3(POLG):c.2480+9T>A rs2055403170
NM_002693.3(POLG):c.2481-4C>G rs764833370
NM_002693.3(POLG):c.2482C>G (p.His828Asp) rs2152061770
NM_002693.3(POLG):c.2483A>T (p.His828Leu) rs533807211
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)
NM_002693.3(POLG):c.2488G>T (p.Asp830Tyr)
NM_002693.3(POLG):c.24G>C (p.Lys8Asn) rs886044323
NM_002693.3(POLG):c.2513G>A (p.Gly838Glu) rs2055400568
NM_002693.3(POLG):c.2525C>A (p.Pro842His)
NM_002693.3(POLG):c.2527C>G (p.Gln843Glu)
NM_002693.3(POLG):c.2528A>G (p.Gln843Arg)
NM_002693.3(POLG):c.2530G>C (p.Val844Leu)
NM_002693.3(POLG):c.2531T>C (p.Val844Ala)
NM_002693.3(POLG):c.2533G>T (p.Val845Leu) rs766185908
NM_002693.3(POLG):c.253G>A (p.Glu85Lys)
NM_002693.3(POLG):c.253G>C (p.Glu85Gln)
NM_002693.3(POLG):c.2546C>A (p.Thr849Asn)
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.256C>G (p.Gln86Glu) rs2141815363
NM_002693.3(POLG):c.257A>C (p.Gln86Pro)
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.3(POLG):c.2593G>T (p.Ala865Ser) rs1596352780
NM_002693.3(POLG):c.2594C>T (p.Ala865Val)
NM_002693.3(POLG):c.25G>A (p.Val9Met)
NM_002693.3(POLG):c.260T>C (p.Ile87Thr) rs776347449
NM_002693.3(POLG):c.2612G>T (p.Gly871Val)
NM_002693.3(POLG):c.2629A>G (p.Met877Val)
NM_002693.3(POLG):c.2641C>T (p.Pro881Ser)
NM_002693.3(POLG):c.2648G>A (p.Gly883Asp)
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2653A>G (p.Thr885Ala) rs1312677626
NM_002693.3(POLG):c.2654C>G (p.Thr885Ser) rs1224799376
NM_002693.3(POLG):c.2656C>T (p.Leu886Phe)
NM_002693.3(POLG):c.2662G>T (p.Gly888Cys)
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2668G>C (p.Asp890His)
NM_002693.3(POLG):c.2681A>C (p.Gln894Pro) rs2152061241
NM_002693.3(POLG):c.2686C>G (p.Leu896Val)
NM_002693.3(POLG):c.2687T>C (p.Leu896Pro)
NM_002693.3(POLG):c.2712C>G (p.Asp904Glu) rs770458126
NM_002693.3(POLG):c.2728A>G (p.Met910Val) rs1260783813
NM_002693.3(POLG):c.2734+3G>A rs2055389780
NM_002693.3(POLG):c.2734G>A (p.Gly912Ser)
NM_002693.3(POLG):c.2738G>C (p.Cys913Ser)
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr)
NM_002693.3(POLG):c.274G>A (p.Gly92Arg)
NM_002693.3(POLG):c.274G>C (p.Gly92Arg) rs747837325
NM_002693.3(POLG):c.2761C>A (p.Leu921Met)
NM_002693.3(POLG):c.2762T>C (p.Leu921Pro) rs2152061053
NM_002693.3(POLG):c.2775G>C (p.Lys925Asn)
NM_002693.3(POLG):c.2782G>T (p.Gly928Cys)
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile) rs1567186644
NM_002693.3(POLG):c.2801A>G (p.Lys934Arg)
NM_002693.3(POLG):c.2803A>T (p.Thr935Ser) rs760431841
NM_002693.3(POLG):c.280A>T (p.Met94Leu) rs778753625
NM_002693.3(POLG):c.2810C>G (p.Thr937Ser)
NM_002693.3(POLG):c.2819G>A (p.Gly940Asp)
NM_002693.3(POLG):c.2827_2828insTCA (p.Arg943delinsLeuSer) rs2152060994
NM_002693.3(POLG):c.282G>T (p.Met94Ile) rs753739487
NM_002693.3(POLG):c.2834A>T (p.His945Leu)
NM_002693.3(POLG):c.2839A>G (p.Lys947Glu) rs2152060982
NM_002693.3(POLG):c.2845_2847del (p.Phe949del) rs1567186596
NM_002693.3(POLG):c.2849A>G (p.Asn950Ser) rs1243940170
NM_002693.3(POLG):c.284C>T (p.Pro95Leu)
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2861T>C (p.Ile954Thr) rs2152060969
NM_002693.3(POLG):c.2862C>G (p.Ile954Met) rs2152060967
NM_002693.3(POLG):c.2866G>A (p.Gly956Ser)
NM_002693.3(POLG):c.2885C>T (p.Ala962Val)
NM_002693.3(POLG):c.2891G>C (p.Arg964Pro)
NM_002693.3(POLG):c.2902C>A (p.Gln968Lys)
NM_002693.3(POLG):c.2911C>T (p.His971Tyr)
NM_002693.3(POLG):c.2913C>A (p.His971Gln)
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.3(POLG):c.2928G>C (p.Gln976His)
NM_002693.3(POLG):c.2935G>C (p.Ala979Pro)
NM_002693.3(POLG):c.2943G>T (p.Lys981Asn) rs1567186502
NM_002693.3(POLG):c.2944G>T (p.Ala982Ser)
NM_002693.3(POLG):c.2948A>T (p.Gln983Leu) rs756679711
NM_002693.3(POLG):c.2951A>G (p.Gln984Arg) rs1780095681
NM_002693.3(POLG):c.2963C>T (p.Ala988Val) rs1279049508
NM_002693.3(POLG):c.2981+3G>A rs769780988
NM_002693.3(POLG):c.2981+5G>C
NM_002693.3(POLG):c.2981+6G>A
NM_002693.3(POLG):c.2992T>C (p.Ser998Pro) rs199810950
NM_002693.3(POLG):c.3005A>G (p.Glu1002Gly)
NM_002693.3(POLG):c.3009G>C (p.Trp1003Cys) rs1064796455
NM_002693.3(POLG):c.3013G>T (p.Val1005Leu) rs2152059818
NM_002693.3(POLG):c.3017G>C (p.Arg1006Thr)
NM_002693.3(POLG):c.3019G>A (p.Glu1007Lys)
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr) rs1567185808
NM_002693.3(POLG):c.302G>T (p.Arg101Leu)
NM_002693.3(POLG):c.3035T>C (p.Val1012Ala)
NM_002693.3(POLG):c.3037G>A (p.Asp1013Asn) rs1307399071
NM_002693.3(POLG):c.3041G>A (p.Arg1014Lys) rs1368475929
NM_002693.3(POLG):c.3049G>A (p.Gly1017Ser)
NM_002693.3(POLG):c.304C>A (p.Arg102Ser) rs1328607569
NM_002693.3(POLG):c.304C>T (p.Arg102Cys) rs1328607569
NM_002693.3(POLG):c.3050G>A (p.Gly1017Asp)
NM_002693.3(POLG):c.3060T>G (p.Ile1020Met)
NM_002693.3(POLG):c.3062C>T (p.Ser1021Phe) rs2055358674
NM_002693.3(POLG):c.3064C>G (p.Leu1022Val) rs2152059768
NM_002693.3(POLG):c.3068A>G (p.Gln1023Arg) rs1364906906
NM_002693.3(POLG):c.3073C>G (p.Leu1025Val) rs1421324049
NM_002693.3(POLG):c.3082G>T (p.Val1028Phe) rs2055358409
NM_002693.3(POLG):c.3085C>G (p.Gln1029Glu)
NM_002693.3(POLG):c.308G>C (p.Ser103Thr)
NM_002693.3(POLG):c.3091G>C (p.Glu1031Gln) rs2055358274
NM_002693.3(POLG):c.3097_3098delinsAA (p.Ala1033Lys)
NM_002693.3(POLG):c.3103_3104+1dup
NM_002693.3(POLG):c.3104A>G (p.Lys1035Arg)
NM_002693.3(POLG):c.3105G>A (p.Lys1035=) rs1567185643
NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu) rs2055354896
NM_002693.3(POLG):c.3115A>G (p.Lys1039Glu) rs2152059459
NM_002693.3(POLG):c.311T>C (p.Val104Ala)
NM_002693.3(POLG):c.3120G>C (p.Lys1040Asn) rs754039113
NM_002693.3(POLG):c.3121T>C (p.Trp1041Arg) rs2055354733
NM_002693.3(POLG):c.3128T>C (p.Val1043Ala) rs1309234992
NM_002693.3(POLG):c.3136G>C (p.Glu1046Gln)
NM_002693.3(POLG):c.313G>C (p.Glu105Gln) rs1049712904
NM_002693.3(POLG):c.3142G>A (p.Ala1048Thr)
NM_002693.3(POLG):c.3142G>T (p.Ala1048Ser) rs762244296
NM_002693.3(POLG):c.3143C>T (p.Ala1048Val) rs1483830740
NM_002693.3(POLG):c.3145T>C (p.Trp1049Arg)
NM_002693.3(POLG):c.3147G>C (p.Trp1049Cys)
NM_002693.3(POLG):c.3150G>C (p.Lys1050Asn)
NM_002693.3(POLG):c.3150G>T (p.Lys1050Asn) rs1254460454
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp) rs769328030
NM_002693.3(POLG):c.3157A>G (p.Thr1053Ala) rs2055353735
NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala) rs768571276
NM_002693.3(POLG):c.3169A>G (p.Met1057Val)
NM_002693.3(POLG):c.3171G>A (p.Met1057Ile) rs2152059356
NM_002693.3(POLG):c.3173T>C (p.Phe1058Ser) rs1555452561
NM_002693.3(POLG):c.3175A>G (p.Asn1059Asp) rs2152059350
NM_002693.3(POLG):c.3176A>T (p.Asn1059Ile) rs201192905
NM_002693.3(POLG):c.3178A>G (p.Lys1060Glu) rs1444338482
NM_002693.3(POLG):c.3187A>G (p.Ser1063Gly)
NM_002693.3(POLG):c.3188G>A (p.Ser1063Asn)
NM_002693.3(POLG):c.3206T>C (p.Ile1069Thr)
NM_002693.3(POLG):c.3214A>T (p.Thr1072Ser) rs1237483748
NM_002693.3(POLG):c.3215C>T (p.Thr1072Ile)
NM_002693.3(POLG):c.3226G>C (p.Gly1076Arg)
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.322C>G (p.Gln108Glu) rs931281951
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu) rs756393846
NM_002693.3(POLG):c.3240C>G (p.Ser1080Arg)
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3244G>A (p.Ala1082Thr) rs1237603598
NM_002693.3(POLG):c.3253C>A (p.Pro1085Thr)
NM_002693.3(POLG):c.325A>G (p.Lys109Glu) rs368137494
NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys) rs759284625
NM_002693.3(POLG):c.3277A>G (p.Met1093Val)
NM_002693.3(POLG):c.3278T>C (p.Met1093Thr) rs2152058855
NM_002693.3(POLG):c.327G>T (p.Lys109Asn) rs2055622519
NM_002693.3(POLG):c.3281C>T (p.Thr1094Ile)
NM_002693.3(POLG):c.3290T>A (p.Val1097Glu)
NM_002693.3(POLG):c.3298G>A (p.Val1100Met) rs1567185242
NM_002693.3(POLG):c.32G>C (p.Gly11Ala)
NM_002693.3(POLG):c.32G>T (p.Gly11Val) rs765472726
NM_002693.3(POLG):c.3301G>A (p.Val1101Ile)
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)
NM_002693.3(POLG):c.3306G>T (p.Gln1102His) rs1336274767
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.3(POLG):c.3316G>T (p.Val1106Phe) rs1567185212
NM_002693.3(POLG):c.3320ACT[1] (p.Tyr1108del)
NM_002693.3(POLG):c.3327A>C (p.Leu1109Phe) rs2152058767
NM_002693.3(POLG):c.3347T>G (p.Met1116Arg) rs764036283
NM_002693.3(POLG):c.3348G>C (p.Met1116Ile)
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro) rs2152058721
NM_002693.3(POLG):c.3358T>G (p.Phe1120Val) rs776720231
NM_002693.3(POLG):c.3359T>C (p.Phe1120Ser)
NM_002693.3(POLG):c.3360T>G (p.Phe1120Leu) rs573272388
NM_002693.3(POLG):c.3373A>G (p.Ile1125Val)
NM_002693.3(POLG):c.3398T>C (p.Ile1133Thr)
NM_002693.3(POLG):c.339G>T (p.Trp113Cys)
NM_002693.3(POLG):c.3409G>A (p.Val1137Ile) rs2152058666
NM_002693.3(POLG):c.340G>A (p.Gly114Arg)
NM_002693.3(POLG):c.3415T>C (p.Tyr1139His) rs1223325480
NM_002693.3(POLG):c.3415T>G (p.Tyr1139Asp)
NM_002693.3(POLG):c.3419_3442dup (p.Leu1140_Tyr1147dup) rs2055342092
NM_002693.3(POLG):c.3421G>A (p.Val1141Met)
NM_002693.3(POLG):c.3427G>A (p.Glu1143Lys) rs765123635
NM_002693.3(POLG):c.3430G>A (p.Glu1144Lys) rs2152058622
NM_002693.3(POLG):c.3440A>G (p.Tyr1147Cys)
NM_002693.3(POLG):c.3443G>T (p.Arg1148Leu) rs145004638
NM_002693.3(POLG):c.3449C>T (p.Ala1150Val)
NM_002693.3(POLG):c.3458T>G (p.Leu1153Trp) rs2152058582
NM_002693.3(POLG):c.3461A>T (p.Gln1154Leu) rs1567185010
NM_002693.3(POLG):c.3462G>T (p.Gln1154His)
NM_002693.3(POLG):c.346C>A (p.Pro116Thr) rs771676521
NM_002693.3(POLG):c.3470A>C (p.Asn1157Thr) rs548076633
NM_002693.3(POLG):c.3479C>T (p.Thr1160Ile)
NM_002693.3(POLG):c.347C>A (p.Pro116Gln) rs747828222
NM_002693.3(POLG):c.347C>G (p.Pro116Arg) rs747828222
NM_002693.3(POLG):c.3482+4T>C
NM_002693.3(POLG):c.3482+5G>A
NM_002693.3(POLG):c.3482+6C>G rs55779802
NM_002693.3(POLG):c.3482+6_3482+44del rs771537545
NM_002693.3(POLG):c.3482G>C (p.Arg1161Thr)
NM_002693.3(POLG):c.3483-17G>A
NM_002693.3(POLG):c.3483-19_3483-17del
NM_002693.3(POLG):c.3483-19_3483-18delinsGG
NM_002693.3(POLG):c.3489G>A (p.Met1163Ile) rs2055313946
NM_002693.3(POLG):c.3500A>G (p.Lys1167Arg)
NM_002693.3(POLG):c.3506G>T (p.Gly1169Val)
NM_002693.3(POLG):c.3509T>C (p.Leu1170Pro)
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3511A>C (p.Asn1171His) rs1567184138
NM_002693.3(POLG):c.3511A>G (p.Asn1171Asp) rs1567184138
NM_002693.3(POLG):c.3520C>G (p.Pro1174Ala) rs762019809
NM_002693.3(POLG):c.3524A>C (p.Gln1175Pro) rs188348569
NM_002693.3(POLG):c.352G>T (p.Val118Leu)
NM_002693.3(POLG):c.3531C>G (p.Val1177=)
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr) rs1481381913
NM_002693.3(POLG):c.3553A>G (p.Ile1185Val) rs2152056502
NM_002693.3(POLG):c.3554T>A (p.Ile1185Asn)
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr)
NM_002693.3(POLG):c.3556G>A (p.Asp1186Asn) rs2055310876
NM_002693.3(POLG):c.3559_3560insCACC (p.Arg1187fs) rs2055310700
NM_002693.3(POLG):c.3580A>G (p.Thr1194Ala) rs751698400
NM_002693.3(POLG):c.3583A>G (p.Met1195Val) rs764233623
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg) rs758720361
NM_002693.3(POLG):c.3590G>A (p.Cys1197Tyr)
NM_002693.3(POLG):c.3596C>T (p.Thr1199Ile) rs970516573
NM_002693.3(POLG):c.35C>T (p.Ala12Val)
NM_002693.3(POLG):c.3601T>G (p.Ser1201Ala)
NM_002693.3(POLG):c.3604A>T (p.Asn1202Tyr) rs2152056248
NM_002693.3(POLG):c.3605A>C (p.Asn1202Thr) rs2152056239
NM_002693.3(POLG):c.3607C>A (p.Pro1203Thr) rs2055308529
NM_002693.3(POLG):c.3607C>T (p.Pro1203Ser)
NM_002693.3(POLG):c.360G>C (p.Leu120Phe)
NM_002693.3(POLG):c.3611C>G (p.Thr1204Ser) rs1242973021
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.3615G>T (p.Gly1205=)
NM_002693.3(POLG):c.3616A>G (p.Met1206Val)
NM_002693.3(POLG):c.3625A>G (p.Arg1209Gly) rs2055307966
NM_002693.3(POLG):c.3633G>T (p.Gly1211=) rs2055307243
NM_002693.3(POLG):c.3637C>G (p.Pro1213Ala)
NM_002693.3(POLG):c.3643+3G>A rs758587842
NM_002693.3(POLG):c.3643+6C>G
NM_002693.3(POLG):c.3646G>A (p.Glu1216Lys)
NM_002693.3(POLG):c.3648A>C (p.Glu1216Asp)
NM_002693.3(POLG):c.364G>T (p.Asp122Tyr) rs2055621716
NM_002693.3(POLG):c.3650C>G (p.Ala1217Gly)
NM_002693.3(POLG):c.3667A>C (p.Ile1223Leu) rs148786642
NM_002693.3(POLG):c.366C>G (p.Asp122Glu)
NM_002693.3(POLG):c.3671T>A (p.Ile1224Asn)
NM_002693.3(POLG):c.3671T>G (p.Ile1224Ser) rs779072487
NM_002693.3(POLG):c.367G>C (p.Val123Leu) rs2055621640
NM_002693.3(POLG):c.3686G>A (p.Gly1229Asp) rs371454241
NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala)
NM_002693.3(POLG):c.3686G>T (p.Gly1229Val)
NM_002693.3(POLG):c.3691T>G (p.Leu1231Val) rs941120370
NM_002693.3(POLG):c.3695A>G (p.Glu1232Gly)
NM_002693.3(POLG):c.3699A>C (p.Lys1233Asn)
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002693.3(POLG):c.3700C>T (p.Arg1234Ter) rs144346886
NM_002693.3(POLG):c.3701G>C (p.Arg1234Pro) rs750792237
NM_002693.3(POLG):c.3701_3702insT (p.Ser1235fs) rs2055280453
NM_002693.3(POLG):c.3706C>T (p.Gln1236Ter)
NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu) rs200788482
NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)
NM_002693.3(POLG):c.3715C>A (p.Pro1239Thr)
NM_002693.3(POLG):c.3716C>T (p.Pro1239Leu)
NM_002693.3(POLG):c.3716del (p.Pro1239fs) rs1555452076
NM_002693.3(POLG):c.371A>T (p.Glu124Val) rs1418568120
NM_002693.3(POLG):c.3720G>A (p.Ter1240=) rs991823575
NM_002693.3(POLG):c.3720G>C (p.Ter1240Tyr) rs991823575
NM_002693.3(POLG):c.372G>T (p.Glu124Asp) rs1036577228
NM_002693.3(POLG):c.373C>G (p.Leu125Val)
NM_002693.3(POLG):c.376C>T (p.Arg126Cys)
NM_002693.3(POLG):c.37A>G (p.Thr13Ala) rs999643917
NM_002693.3(POLG):c.388C>A (p.Leu130Ile)
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
NM_002693.3(POLG):c.401A>G (p.Asn134Ser) rs765542094
NM_002693.3(POLG):c.401A>T (p.Asn134Ile)
NM_002693.3(POLG):c.410A>G (p.Gln137Arg)
NM_002693.3(POLG):c.414C>G (p.His138Gln)
NM_002693.3(POLG):c.416T>G (p.Phe139Cys) rs2141814897
NM_002693.3(POLG):c.418C>T (p.Arg140Cys) rs761248036
NM_002693.3(POLG):c.421C>T (p.Leu141Phe)
NM_002693.3(POLG):c.430C>G (p.Gln144Glu) rs2141814867
NM_002693.3(POLG):c.434A>G (p.Lys145Arg)
NM_002693.3(POLG):c.438G>C (p.Gln146His)
NM_002693.3(POLG):c.439A>G (p.Ser147Gly)
NM_002693.3(POLG):c.439A>T (p.Ser147Cys)
NM_002693.3(POLG):c.449A>G (p.Tyr150Cys) rs2055620034
NM_002693.3(POLG):c.452T>G (p.Leu151Arg)
NM_002693.3(POLG):c.46C>T (p.Pro16Ser)
NM_002693.3(POLG):c.482A>G (p.Gln161Arg) rs2141814756
NM_002693.3(POLG):c.490C>A (p.Pro164Thr)
NM_002693.3(POLG):c.491C>T (p.Pro164Leu) rs1169437119
NM_002693.3(POLG):c.497C>T (p.Pro166Leu)
NM_002693.3(POLG):c.500C>T (p.Pro167Leu) rs1424057005
NM_002693.3(POLG):c.508G>T (p.Ala170Ser)
NM_002693.3(POLG):c.509C>T (p.Ala170Val)
NM_002693.3(POLG):c.510_515dup (p.169WA[3]) rs2141814680
NM_002693.3(POLG):c.514_525del (p.Ala172_Trp175del)
NM_002693.3(POLG):c.52C>T (p.Pro18Ser) rs3087373
NM_002693.3(POLG):c.530G>T (p.Arg177Leu)
NM_002693.3(POLG):c.536G>T (p.Gly179Val)
NM_002693.3(POLG):c.53C>A (p.Pro18Gln) rs1394515933
NM_002693.3(POLG):c.53C>T (p.Pro18Leu) rs1394515933
NM_002693.3(POLG):c.549G>C (p.Glu183Asp) rs1555454267
NM_002693.3(POLG):c.551C>T (p.Ala184Val) rs1567193930
NM_002693.3(POLG):c.553G>A (p.Val185Ile) rs953495957
NM_002693.3(POLG):c.559G>C (p.Val187Leu) rs1555454261
NM_002693.3(POLG):c.562G>A (p.Ala188Thr)
NM_002693.3(POLG):c.563C>G (p.Ala188Gly)
NM_002693.3(POLG):c.568C>G (p.Pro190Ala)
NM_002693.3(POLG):c.569C>T (p.Pro190Leu) rs1179914559
NM_002693.3(POLG):c.578G>C (p.Arg193Pro)
NM_002693.3(POLG):c.586G>A (p.Val196Met)
NM_002693.3(POLG):c.58C>T (p.Pro20Ser) rs1596362883
NM_002693.3(POLG):c.591C>A (p.Phe197Leu)
NM_002693.3(POLG):c.595G>C (p.Val199Leu)
NM_002693.3(POLG):c.595G>T (p.Val199Leu)
NM_002693.3(POLG):c.601G>T (p.Val201Phe) rs2141814471
NM_002693.3(POLG):c.614A>G (p.Glu205Gly) rs2055617012
NM_002693.3(POLG):c.617G>A (p.Gly206Glu) rs2055616949
NM_002693.3(POLG):c.61G>T (p.Ala21Ser)
NM_002693.3(POLG):c.620C>G (p.Thr207Ser)
NM_002693.3(POLG):c.625C>G (p.Pro209Ala)
NM_002693.3(POLG):c.62C>T (p.Ala21Val) rs796052893
NM_002693.3(POLG):c.638T>C (p.Val213Ala) rs1596362016
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_002693.3(POLG):c.647C>A (p.Ser216Tyr)
NM_002693.3(POLG):c.647C>T (p.Ser216Phe) rs763592738
NM_002693.3(POLG):c.64C>A (p.Pro22Thr)
NM_002693.3(POLG):c.659+6T>C rs1429417228
NM_002693.3(POLG):c.673A>G (p.Ser225Gly)
NM_002693.3(POLG):c.680G>A (p.Arg227Gln)
NM_002693.3(POLG):c.691G>A (p.Glu231Lys)
NM_002693.3(POLG):c.695G>C (p.Arg232Pro) rs113994093
NM_002693.3(POLG):c.70C>A (p.Arg24Ser) rs1196273210
NM_002693.3(POLG):c.718T>C (p.Ser240Pro) rs2141806695
NM_002693.3(POLG):c.71G>T (p.Arg24Leu)
NM_002693.3(POLG):c.725C>A (p.Ala242Asp)
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.745G>T (p.Val249Phe)
NM_002693.3(POLG):c.74G>T (p.Trp25Leu)
NM_002693.3(POLG):c.751A>C (p.Thr251Pro)
NM_002693.3(POLG):c.755G>C (p.Gly252Ala)
NM_002693.3(POLG):c.757G>C (p.Ala253Pro)
NM_002693.3(POLG):c.760A>T (p.Ser254Cys)
NM_002693.3(POLG):c.761G>A (p.Ser254Asn) rs2055575699
NM_002693.3(POLG):c.767C>G (p.Pro256Arg)
NM_002693.3(POLG):c.76G>A (p.Val26Ile)
NM_002693.3(POLG):c.773A>G (p.Gln258Arg) rs761830723
NM_002693.3(POLG):c.790C>A (p.Gln264Lys)
NM_002693.3(POLG):c.796G>C (p.Val266Leu)
NM_002693.3(POLG):c.810T>A (p.Asn270Lys)
NM_002693.3(POLG):c.811G>A (p.Val271Ile) rs2141806409
NM_002693.3(POLG):c.814T>A (p.Ser272Thr) rs1567192772
NM_002693.3(POLG):c.814T>C (p.Ser272Pro)
NM_002693.3(POLG):c.815C>G (p.Ser272Cys)
NM_002693.3(POLG):c.826G>A (p.Ala276Thr) rs778531134
NM_002693.3(POLG):c.830A>G (p.His277Arg) rs138929605
NM_002693.3(POLG):c.832A>G (p.Ile278Val)
NM_002693.3(POLG):c.845A>G (p.Tyr282Cys)
NM_002693.3(POLG):c.848T>C (p.Leu283Pro)
NM_002693.3(POLG):c.855+4A>G rs1596360240
NM_002693.3(POLG):c.856G>C (p.Gly286Arg)
NM_002693.3(POLG):c.85T>C (p.Ser29Pro)
NM_002693.3(POLG):c.865A>C (p.Met289Leu) rs2152068187
NM_002693.3(POLG):c.865A>G (p.Met289Val)
NM_002693.3(POLG):c.866T>C (p.Met289Thr) rs2152068184
NM_002693.3(POLG):c.867G>A (p.Met289Ile) rs2055562116
NM_002693.3(POLG):c.872T>G (p.Phe291Cys)
NM_002693.3(POLG):c.883A>G (p.Met295Val) rs1460331646
NM_002693.3(POLG):c.890T>C (p.Met297Thr)
NM_002693.3(POLG):c.897G>C (p.Met299Ile)
NM_002693.3(POLG):c.898G>C (p.Ala300Pro)
NM_002693.3(POLG):c.89_100del (p.Val30_Ser33del)
NM_002693.3(POLG):c.901A>G (p.Ile301Val) rs2152068160
NM_002693.3(POLG):c.916A>G (p.Ser306Gly) rs896972079
NM_002693.3(POLG):c.929G>T (p.Ser310Ile)
NM_002693.3(POLG):c.935G>C (p.Trp312Ser)
NM_002693.3(POLG):c.937A>C (p.Ile313Leu) rs2055560967
NM_002693.3(POLG):c.94G>A (p.Ala32Thr)
NM_002693.3(POLG):c.950A>G (p.Gln317Arg) rs2152068136
NM_002693.3(POLG):c.952G>A (p.Gly318Ser)
NM_002693.3(POLG):c.964G>A (p.Val322Ile) rs1204119738
NM_002693.3(POLG):c.968A>G (p.Gln323Arg) rs2055560405
NM_002693.3(POLG):c.971C>A (p.Pro324His)
NM_002693.3(POLG):c.977C>T (p.Thr326Ile)
NM_002693.3(POLG):c.979A>G (p.Lys327Glu)
NM_002693.3(POLG):c.983A>G (p.Gln328Arg) rs886043556
NM_002693.3(POLG):c.987C>T (p.Gly329=) rs2152068113
NM_002693.3(POLG):c.989A>G (p.Gln330Arg) rs1423452317
NM_002693.3(POLG):c.990G>T (p.Gln330His)

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