ClinVar Miner

List of variants in gene POLG, POLGARF studied for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 627
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.660-46G>A rs2307430 0.04873
NM_002693.3(POLG):c.1251-43C>T rs2307444 0.02369
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_002693.3(POLG):c.1024-38C>T rs138069091 0.00549
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_002693.3(POLG):c.1950-43A>G rs74596434 0.00178
NM_002693.3(POLG):c.3104+24G>C rs201483942 0.00100
NM_002693.3(POLG):c.145C>G (p.Gln49Glu) rs200132079 0.00084
NM_002693.3(POLG):c.1251-23del rs541579481 0.00077
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.2481-26C>T rs112776049 0.00055
NM_002693.3(POLG):c.3105-22C>T rs199809987 0.00049
NM_002693.3(POLG):c.660-29T>C rs374159057 0.00049
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.29C>T (p.Ala10Val) rs774459114 0.00033
NM_002693.3(POLG):c.1024-44C>T rs370557654 0.00029
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.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_002693.3(POLG):c.3104+32G>A rs200269242 0.00022
NM_002693.3(POLG):c.2599-40G>T rs55792683 0.00021
NM_002693.3(POLG):c.186A>G (p.Leu62=) rs745310138 0.00016
NM_002693.3(POLG):c.3104+27G>A rs373628823 0.00016
NM_002693.3(POLG):c.3104+50C>T rs370764907 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.1171-24C>T rs369293614 0.00013
NM_002693.3(POLG):c.1250+37G>T rs372614123 0.00013
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_002693.3(POLG):c.2599-24T>C rs368659678 0.00010
NM_002693.3(POLG):c.2982-50G>A rs752500882 0.00010
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.2481-44A>T rs370712401 0.00008
NM_002693.3(POLG):c.398A>G (p.Asp133Gly) rs540905618 0.00008
NM_002693.3(POLG):c.39C>T (p.Thr13=) rs535213599 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002693.3(POLG):c.129G>A (p.Gln43=) rs570989155 0.00006
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.722C>T (p.Pro241Leu) rs1452571273 0.00006
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) rs74382477 0.00005
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.222G>A (p.Leu74=) rs758077958 0.00004
NM_002693.3(POLG):c.2266-48del rs766283304 0.00004
NM_002693.3(POLG):c.3273+28A>C rs371425871 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.487C>T (p.Pro163Ser) rs758454871 0.00004
NM_002693.3(POLG):c.1434-32C>G rs954111058 0.00003
NM_002693.3(POLG):c.177G>T (p.Pro59=) rs372383277 0.00003
NM_002693.3(POLG):c.184C>T (p.Leu62=) rs144033465 0.00003
NM_002693.3(POLG):c.1949+44C>A rs762378430 0.00003
NM_002693.3(POLG):c.2266-44G>T rs1335068171 0.00003
NM_002693.3(POLG):c.2598+28T>A rs1020120703 0.00003
NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser) rs761103159 0.00003
NM_002693.3(POLG):c.388C>T (p.Leu130Phe) rs201261842 0.00003
NM_002693.3(POLG):c.60A>C (p.Pro20=) rs944054671 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
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.2982-31C>T rs2307432 0.00002
NM_002693.3(POLG):c.33C>T (p.Gly11=) rs1482684558 0.00002
NM_002693.3(POLG):c.3493G>A (p.Ala1165Thr) rs778611629 0.00002
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu) rs766196697 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.516G>A (p.Ala172=) rs1028326668 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.687G>A (p.Val229=) rs768884865 0.00002
NM_002693.3(POLG):c.713A>G (p.Gln238Arg) rs56410699 0.00002
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_002693.3(POLG):c.148C>A (p.Gln50Lys) rs752556685 0.00001
NM_002693.3(POLG):c.159_167dup (p.55QPQ[3]) rs776709929 0.00001
NM_002693.3(POLG):c.162G>A (p.Gln54=) rs796052878 0.00001
NM_002693.3(POLG):c.163C>T (p.Gln55Ter) rs2055626123 0.00001
NM_002693.3(POLG):c.188C>T (p.Ser63Phe) rs960812250 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 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.2070+27T>C rs1259690556 0.00001
NM_002693.3(POLG):c.2071-48G>T rs1293230481 0.00001
NM_002693.3(POLG):c.220T>C (p.Leu74=) rs1241802528 0.00001
NM_002693.3(POLG):c.255G>A (p.Glu85=) rs1332983041 0.00001
NM_002693.3(POLG):c.261C>A (p.Ile87=) rs770543008 0.00001
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr) rs935602068 0.00001
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn) rs752971760 0.00001
NM_002693.3(POLG):c.282G>A (p.Met94Ile) rs753739487 0.00001
NM_002693.3(POLG):c.297G>A (p.Ala99=) rs953515097 0.00001
NM_002693.3(POLG):c.30C>T (p.Ala10=) rs1060504037 0.00001
NM_002693.3(POLG):c.31G>A (p.Gly11Ser) rs764055826 0.00001
NM_002693.3(POLG):c.330C>T (p.His110=) rs376266682 0.00001
NM_002693.3(POLG):c.337T>A (p.Trp113Arg) rs746450616 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.360G>T (p.Leu120Phe) rs886043905 0.00001
NM_002693.3(POLG):c.384G>T (p.Pro128=) rs558958919 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.423C>T (p.Leu141=) rs761417163 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.453G>A (p.Leu151=) rs779981823 0.00001
NM_002693.3(POLG):c.468G>A (p.Leu156=) rs1567194019 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.484C>T (p.Leu162=) rs375445567 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.528C>T (p.Thr176=) rs750915606 0.00001
NM_002693.3(POLG):c.542A>C (p.Glu181Ala) rs761349383 0.00001
NM_002693.3(POLG):c.543G>A (p.Glu181=) rs773882973 0.00001
NM_002693.3(POLG):c.54G>C (p.Pro18=) rs1378670216 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.603C>T (p.Val201=) rs768005050 0.00001
NM_002693.3(POLG):c.609G>C (p.Leu203Phe) rs796052900 0.00001
NM_002693.3(POLG):c.635C>T (p.Ala212Val) rs751130039 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.659+7A>T rs1233914532 0.00001
NM_002693.3(POLG):c.659G>C (p.Trp220Ser) rs1004988362 0.00001
NM_002693.3(POLG):c.660-7C>T rs766053530 0.00001
NM_002693.3(POLG):c.660-9C>T rs776555301 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.67G>A (p.Gly23Arg) rs1422899388 0.00001
NM_002693.3(POLG):c.695G>A (p.Arg232His) rs113994093 0.00001
NM_002693.3(POLG):c.717G>A (p.Leu239=) rs1188801234 0.00001
NM_002693.3(POLG):c.723G>A (p.Pro241=) rs1057522857 0.00001
NM_002693.3(POLG):c.726T>A (p.Ala242=) rs2055576134 0.00001
NM_002693.3(POLG):c.75G>A (p.Trp25Ter) rs1021719232 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_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer)
NM_002693.3(POLG):c.1024-1G>C rs1567192203
NM_002693.3(POLG):c.1024-24A>G rs1567192219
NM_002693.3(POLG):c.104C>T (p.Pro35Leu) rs769214289
NM_002693.3(POLG):c.1056T>C (p.Ser352=) rs1567192184
NM_002693.3(POLG):c.107G>C (p.Ser36Thr)
NM_002693.3(POLG):c.110_119dup (p.Arg42fs)
NM_002693.3(POLG):c.111C>T (p.Asp37=)
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.113G>A (p.Gly38Glu) rs1403540142
NM_002693.3(POLG):c.116_118del (p.Gln39del) rs763663907
NM_002693.3(POLG):c.1171-30A>G rs761504232
NM_002693.3(POLG):c.1171-37G>T rs1426619872
NM_002693.3(POLG):c.1186T>C (p.Cys396Arg) rs1567191994
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[4] (p.Arg42dup) rs761080016
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.1202G>A (p.Trp401Ter)
NM_002693.3(POLG):c.120G>C (p.Arg40=)
NM_002693.3(POLG):c.123G>T (p.Arg41=)
NM_002693.3(POLG):c.1250+12C>T rs985160740
NM_002693.3(POLG):c.1250+27_1250+28del rs776623760
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
NM_002693.3(POLG):c.1251-2A>T
NM_002693.3(POLG):c.1251-38G>C rs1567191551
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.126G>A (p.Arg42=) rs1287086085
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup) rs41550117
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.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
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.1289T>C (p.Met430Thr) rs1567191474
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.130_131insGGC (p.Gln43_Gln44insArg) rs1555454345
NM_002693.3(POLG):c.132G>A (p.Gln44=) rs1596362738
NM_002693.3(POLG):c.132G>T (p.Gln44His) rs1596362738
NM_002693.3(POLG):c.133_134insGGC (p.Gln44_Gln45insArg) rs1567194472
NM_002693.3(POLG):c.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg) rs1567194472
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)
NM_002693.3(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg) rs1567194455
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.135G>C (p.Gln45His)
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
NM_002693.3(POLG):c.136C>T (p.Gln46Ter)
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.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.139C>G (p.Gln47Glu)
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.140_141insACA (p.Gln55dup) rs1397675423
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) rs1567191334
NM_002693.3(POLG):c.142C>G (p.Gln48Glu)
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.143_166dup (p.Gln48_Gln55dup) rs1555454325
NM_002693.3(POLG):c.1452G>C (p.Trp484Cys) rs774879097
NM_002693.3(POLG):c.145C>T (p.Gln49Ter)
NM_002693.3(POLG):c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.149_166dup (p.Gln50_Gln55dup) rs773536141
NM_002693.3(POLG):c.151C>G (p.Gln51Glu)
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.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.155_156insTCA (p.Gln51_Gln52insHis) rs573261648
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del) rs761909257
NM_002693.3(POLG):c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)
NM_002693.3(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.3(POLG):c.156G>A (p.Gln52=) rs587781117
NM_002693.3(POLG):c.156G>C (p.Gln52His) rs587781117
NM_002693.3(POLG):c.157C>T (p.Gln53Ter)
NM_002693.3(POLG):c.1585+22TAGGG[4] rs777442304
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) rs527965158
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)
NM_002693.3(POLG):c.158_159insGCAACA (p.Gln54_Gln55dup) rs1555454333
NM_002693.3(POLG):c.158_159insGCAACAGCA (p.Gln53_Gln55dup) rs1555454334
NM_002693.3(POLG):c.158_159insGCAGCAACA (p.Gln53_Gln55dup) rs1555454333
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.3(POLG):c.158_166dup (p.Gln53_Gln55dup) rs769735492
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.159A>T (p.Gln53His) rs587781118
NM_002693.3(POLG):c.159_161dup (p.Gln55dup) rs768088414
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup) rs760135553
NM_002693.3(POLG):c.159delinsGCAACAGCAGCCT (p.Gln55_Pro56insGlnProGlnGln) rs1596362608
NM_002693.3(POLG):c.15C>G (p.Leu5=) rs892999189
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
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.1640_1641del (p.Ala547fs)
NM_002693.3(POLG):c.164_165insACAGCAGCA (p.Gln55_Pro56insGlnGlnGln)
NM_002693.3(POLG):c.167C>G (p.Pro56Arg) rs1022612492
NM_002693.3(POLG):c.167C>T (p.Pro56Leu)
NM_002693.3(POLG):c.168T>G (p.Pro56=)
NM_002693.3(POLG):c.168_176dup (p.55QPQ[3]) rs771937417
NM_002693.3(POLG):c.1712+2T>G
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)
NM_002693.3(POLG):c.176C>T (p.Pro59Leu) rs1057518590
NM_002693.3(POLG):c.177G>C (p.Pro59=) rs372383277
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.179A>C (p.Gln60Pro)
NM_002693.3(POLG):c.180A>G (p.Gln60=) rs1555454318
NM_002693.3(POLG):c.183G>T (p.Val61=)
NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)
NM_002693.3(POLG):c.1845dup (p.Glu616fs)
NM_002693.3(POLG):c.187T>C (p.Ser63Pro) rs781006710
NM_002693.3(POLG):c.189C>T (p.Ser63=)
NM_002693.3(POLG):c.189_191del (p.Ser64del) rs2141815620
NM_002693.3(POLG):c.191C>T (p.Ser64Leu)
NM_002693.3(POLG):c.192G>A (p.Ser64=)
NM_002693.3(POLG):c.192G>T (p.Ser64=)
NM_002693.3(POLG):c.1944del (p.Tyr649fs)
NM_002693.3(POLG):c.1950-32_1950-30del rs1567188748
NM_002693.3(POLG):c.199G>C (p.Gly67Arg)
NM_002693.3(POLG):c.19A>T (p.Arg7Trp)
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.3(POLG):c.203A>T (p.Gln68Leu) rs1171419088
NM_002693.3(POLG):c.204G>C (p.Gln68His)
NM_002693.3(POLG):c.2070+1G>A rs1567188588
NM_002693.3(POLG):c.2070+2T>G
NM_002693.3(POLG):c.2071-43C>T rs753372873
NM_002693.3(POLG):c.2071-4C>T rs1567188491
NM_002693.3(POLG):c.209G>A (p.Arg70Gln) rs1031558097
NM_002693.3(POLG):c.210G>A (p.Arg70=)
NM_002693.3(POLG):c.210G>C (p.Arg70=) rs751225754
NM_002693.3(POLG):c.210G>T (p.Arg70=) rs751225754
NM_002693.3(POLG):c.211C>T (p.His71Tyr)
NM_002693.3(POLG):c.212A>G (p.His71Arg)
NM_002693.3(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.3(POLG):c.215A>G (p.Asn72Ser) rs796052897
NM_002693.3(POLG):c.216C>T (p.Asn72=)
NM_002693.3(POLG):c.218C>T (p.Pro73Leu)
NM_002693.3(POLG):c.219A>G (p.Pro73=)
NM_002693.3(POLG):c.219A>T (p.Pro73=)
NM_002693.3(POLG):c.21G>A (p.Arg7=) rs1057523280
NM_002693.3(POLG):c.225C>T (p.Asp75=)
NM_002693.3(POLG):c.228C>T (p.Ile76=)
NM_002693.3(POLG):c.229C>T (p.Gln77Ter)
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu) rs755315398
NM_002693.3(POLG):c.231G>C (p.Gln77His)
NM_002693.3(POLG):c.231G>T (p.Gln77His)
NM_002693.3(POLG):c.237C>G (p.Leu79=) rs774537232
NM_002693.3(POLG):c.237C>T (p.Leu79=) rs774537232
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser) rs2055414996
NM_002693.3(POLG):c.2391_2393del (p.Met797del) rs1567187766
NM_002693.3(POLG):c.240G>T (p.Ser80=) rs2141815443
NM_002693.3(POLG):c.241A>G (p.Arg81Gly) rs764544892
NM_002693.3(POLG):c.2426+10C>G rs1567187739
NM_002693.3(POLG):c.2426+1G>C rs1567187745
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.246G>T (p.Gly82=)
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) rs1567194243
NM_002693.3(POLG):c.249G>C (p.Leu83=)
NM_002693.3(POLG):c.24G>C (p.Lys8Asn) rs886044323
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.253G>A (p.Glu85Lys)
NM_002693.3(POLG):c.253G>C (p.Glu85Gln)
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs) rs1567187103
NM_002693.3(POLG):c.256C>G (p.Gln86Glu) rs2141815363
NM_002693.3(POLG):c.257A>C (p.Gln86Pro)
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) rs1567187057
NM_002693.3(POLG):c.25G>A (p.Val9Met)
NM_002693.3(POLG):c.260T>C (p.Ile87Thr) rs776347449
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter) rs121918047
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile) rs1224799376
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser) rs1567186787
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro) rs763393580
NM_002693.3(POLG):c.267G>A (p.Gly89=)
NM_002693.3(POLG):c.268C>T (p.Gln90Ter) rs1473911378
NM_002693.3(POLG):c.2734+39_2734+40insAGGT rs2307433
NM_002693.3(POLG):c.2735-42A>G rs1258121070
NM_002693.3(POLG):c.273A>G (p.Gly91=)
NM_002693.3(POLG):c.274G>A (p.Gly92Arg)
NM_002693.3(POLG):c.274G>C (p.Gly92Arg) rs747837325
NM_002693.3(POLG):c.2755A>G (p.Met919Val)
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.276G>A (p.Gly92=)
NM_002693.3(POLG):c.279G>A (p.Glu93=) rs1367245840
NM_002693.3(POLG):c.27G>C (p.Val9=)
NM_002693.3(POLG):c.280A>T (p.Met94Leu) rs778753625
NM_002693.3(POLG):c.282G>T (p.Met94Ile) rs753739487
NM_002693.3(POLG):c.284C>T (p.Pro95Leu)
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn) rs1567186591
NM_002693.3(POLG):c.2874G>T (p.Gly958=) rs1567186563
NM_002693.3(POLG):c.287del (p.Gly96fs) rs2141815273
NM_002693.3(POLG):c.288C>G (p.Gly96=) rs149324249
NM_002693.3(POLG):c.2896C>T (p.Leu966=) rs1187151579
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)
NM_002693.3(POLG):c.300G>T (p.Val100=) rs2141815244
NM_002693.3(POLG):c.302G>T (p.Arg101Leu)
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.3057G>A (p.Trp1019Ter) rs1567185775
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.3(POLG):c.306C>T (p.Arg102=)
NM_002693.3(POLG):c.308G>C (p.Ser103Thr)
NM_002693.3(POLG):c.3104+64A>G rs1567185722
NM_002693.3(POLG):c.311T>C (p.Val104Ala)
NM_002693.3(POLG):c.313G>C (p.Glu105Gln) rs1049712904
NM_002693.3(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs) rs1332921412
NM_002693.3(POLG):c.315G>A (p.Glu105=) rs1411980838
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
NM_002693.3(POLG):c.318C>T (p.His106=)
NM_002693.3(POLG):c.319C>T (p.Leu107=) rs1440493081
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.322C>G (p.Gln108Glu) rs931281951
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro) rs140079523
NM_002693.3(POLG):c.325A>G (p.Lys109Glu) rs368137494
NM_002693.3(POLG):c.3273+34G>A rs1567185382
NM_002693.3(POLG):c.3274-47G>A rs1567185324
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)
NM_002693.3(POLG):c.327G>A (p.Lys109=)
NM_002693.3(POLG):c.327G>T (p.Lys109Asn) rs2055622519
NM_002693.3(POLG):c.3282del (p.Ser1095fs) rs1596350117
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile) rs587780421
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter) rs2055345819
NM_002693.3(POLG):c.32G>C (p.Gly11Ala)
NM_002693.3(POLG):c.32G>T (p.Gly11Val) rs765472726
NM_002693.3(POLG):c.3306G>C (p.Gln1102His) rs1336274767
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro) rs1567185178
NM_002693.3(POLG):c.333G>T (p.Gly111=) rs56221189
NM_002693.3(POLG):c.3390C>T (p.Cys1130=) rs1567185105
NM_002693.3(POLG):c.339G>T (p.Trp113Cys)
NM_002693.3(POLG):c.340G>A (p.Gly114Arg)
NM_002693.3(POLG):c.3424dup (p.Arg1142fs) rs1555452453
NM_002693.3(POLG):c.342G>T (p.Gly114=)
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.3(POLG):c.3456C>G (p.Ala1152=) rs1567185018
NM_002693.3(POLG):c.346C>A (p.Pro116Thr) rs771676521
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.3483-14T>A rs587781119
NM_002693.3(POLG):c.3483-6T>C
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.3(POLG):c.351C>T (p.Ala117=)
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs) rs1596348547
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.352G>T (p.Val118Leu)
NM_002693.3(POLG):c.3539dup (p.Ser1181fs)
NM_002693.3(POLG):c.354G>T (p.Val118=)
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) rs754844175
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_002693.3(POLG):c.357C>T (p.Pro119=)
NM_002693.3(POLG):c.35C>T (p.Ala12Val)
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.360G>C (p.Leu120Phe)
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) rs2055307106
NM_002693.3(POLG):c.363C>G (p.Pro121=) rs2055621743
NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu) rs781256643
NM_002693.3(POLG):c.364G>T (p.Asp122Tyr) rs2055621716
NM_002693.3(POLG):c.366C>G (p.Asp122Glu)
NM_002693.3(POLG):c.366C>T (p.Asp122=)
NM_002693.3(POLG):c.367G>C (p.Val123Leu) rs2055621640
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
NM_002693.3(POLG):c.371A>T (p.Glu124Val) rs1418568120
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.378C>G (p.Arg126=) rs754748773
NM_002693.3(POLG):c.379C>T (p.Leu127=)
NM_002693.3(POLG):c.37A>G (p.Thr13Ala) rs999643917
NM_002693.3(POLG):c.380_386del (p.Leu127fs) rs1064794735
NM_002693.3(POLG):c.381G>A (p.Leu127=)
NM_002693.3(POLG):c.381G>T (p.Leu127=) rs1057524724
NM_002693.3(POLG):c.384G>C (p.Pro128=) rs558958919
NM_002693.3(POLG):c.386C>T (p.Pro129Leu)
NM_002693.3(POLG):c.388C>A (p.Leu130Ile)
NM_002693.3(POLG):c.390C>T (p.Leu130=) rs1214539830
NM_002693.3(POLG):c.393C>T (p.Tyr131=)
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
NM_002693.3(POLG):c.396G>A (p.Gly132=)
NM_002693.3(POLG):c.39C>G (p.Thr13=)
NM_002693.3(POLG):c.401A>G (p.Asn134Ser) rs765542094
NM_002693.3(POLG):c.401A>T (p.Asn134Ile)
NM_002693.3(POLG):c.403C>T (p.Leu135=)
NM_002693.3(POLG):c.405G>A (p.Leu135=)
NM_002693.3(POLG):c.405G>C (p.Leu135=)
NM_002693.3(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.3(POLG):c.410A>G (p.Gln137Arg)
NM_002693.3(POLG):c.411G>A (p.Gln137=)
NM_002693.3(POLG):c.414C>G (p.His138Gln)
NM_002693.3(POLG):c.414C>T (p.His138=) rs916364510
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.419G>T (p.Arg140Leu)
NM_002693.3(POLG):c.421C>T (p.Leu141Phe)
NM_002693.3(POLG):c.42C>T (p.Val14=)
NM_002693.3(POLG):c.430C>G (p.Gln144Glu) rs2141814867
NM_002693.3(POLG):c.434A>G (p.Lys145Arg)
NM_002693.3(POLG):c.435G>A (p.Lys145=) rs2141814859
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.441C>T (p.Ser147=) rs2141814842
NM_002693.3(POLG):c.442C>T (p.Leu148=)
NM_002693.3(POLG):c.444G>T (p.Leu148=) rs2141814828
NM_002693.3(POLG):c.449A>G (p.Tyr150Cys) rs2055620034
NM_002693.3(POLG):c.449A>T (p.Tyr150Phe)
NM_002693.3(POLG):c.450C>T (p.Tyr150=)
NM_002693.3(POLG):c.451C>T (p.Leu151=)
NM_002693.3(POLG):c.452T>G (p.Leu151Arg)
NM_002693.3(POLG):c.456G>A (p.Glu152=)
NM_002693.3(POLG):c.459G>A (p.Ala153=)
NM_002693.3(POLG):c.46C>T (p.Pro16Ser)
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) rs1567194013
NM_002693.3(POLG):c.471G>C (p.Leu157=) rs745813477
NM_002693.3(POLG):c.471G>T (p.Leu157=)
NM_002693.3(POLG):c.482A>G (p.Gln161Arg) rs2141814756
NM_002693.3(POLG):c.486G>A (p.Leu162=)
NM_002693.3(POLG):c.489C>T (p.Pro163=) rs1057520491
NM_002693.3(POLG):c.48A>C (p.Pro16=) rs1041095432
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.501G>A (p.Pro167=) rs886044612
NM_002693.3(POLG):c.501G>C (p.Pro167=)
NM_002693.3(POLG):c.508G>T (p.Ala170Ser)
NM_002693.3(POLG):c.508del (p.Ala170fs)
NM_002693.3(POLG):c.509C>T (p.Ala170Val)
NM_002693.3(POLG):c.510C>G (p.Ala170=)
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.519G>A (p.Glu173=)
NM_002693.3(POLG):c.51G>A (p.Gly17=)
NM_002693.3(POLG):c.522C>G (p.Gly174=) rs766842881
NM_002693.3(POLG):c.52C>T (p.Pro18Ser) rs3087373
NM_002693.3(POLG):c.530G>T (p.Arg177Leu)
NM_002693.3(POLG):c.531G>A (p.Arg177=)
NM_002693.3(POLG):c.534C>T (p.Tyr178=) rs766962517
NM_002693.3(POLG):c.536G>T (p.Gly179Val)
NM_002693.3(POLG):c.537C>G (p.Gly179=)
NM_002693.3(POLG):c.538C>T (p.Pro180Ser) rs1567193954
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.540C>T (p.Pro180=)
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.552C>T (p.Ala184=)
NM_002693.3(POLG):c.552_657del (p.Val185fs)
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.570C>A (p.Pro190=)
NM_002693.3(POLG):c.578G>C (p.Arg193Pro)
NM_002693.3(POLG):c.57T>G (p.Val19=)
NM_002693.3(POLG):c.582C>T (p.Ala194=)
NM_002693.3(POLG):c.586G>A (p.Val196Met)
NM_002693.3(POLG):c.588G>C (p.Val196=)
NM_002693.3(POLG):c.58C>T (p.Pro20Ser) rs1596362883
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
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.600G>A (p.Glu200=)
NM_002693.3(POLG):c.601G>T (p.Val201Phe) rs2141814471
NM_002693.3(POLG):c.603C>G (p.Val201=)
NM_002693.3(POLG):c.60A>G (p.Pro20=) rs944054671
NM_002693.3(POLG):c.611C>G (p.Ala204Gly) rs1015074661
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.624C>A (p.Cys208Ter) rs1159974816
NM_002693.3(POLG):c.625C>G (p.Pro209Ala)
NM_002693.3(POLG):c.62C>T (p.Ala21Val) rs796052893
NM_002693.3(POLG):c.630A>C (p.Thr210=)
NM_002693.3(POLG):c.630A>G (p.Thr210=)
NM_002693.3(POLG):c.631T>C (p.Leu211=)
NM_002693.3(POLG):c.638T>C (p.Val213Ala) rs1596362016
NM_002693.3(POLG):c.63T>A (p.Ala21=)
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_002693.3(POLG):c.642C>T (p.Ala214=)
NM_002693.3(POLG):c.646del (p.Ser216fs) rs1567193844
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.651C>G (p.Pro217=)
NM_002693.3(POLG):c.659+11G>T rs3087379
NM_002693.3(POLG):c.659+13A>G
NM_002693.3(POLG):c.659+14G>C
NM_002693.3(POLG):c.659+14G>T
NM_002693.3(POLG):c.659+15G>A rs2055615863
NM_002693.3(POLG):c.659+15G>C
NM_002693.3(POLG):c.659+16G>C
NM_002693.3(POLG):c.659+16_659+33del
NM_002693.3(POLG):c.659+16del rs745807900
NM_002693.3(POLG):c.659+1G>C
NM_002693.3(POLG):c.659+1G>T
NM_002693.3(POLG):c.659+6T>C rs1429417228
NM_002693.3(POLG):c.659+7A>G
NM_002693.3(POLG):c.660-10C>T
NM_002693.3(POLG):c.660-11A>C
NM_002693.3(POLG):c.660-11A>G rs369731644
NM_002693.3(POLG):c.660-12C>G
NM_002693.3(POLG):c.660-16C>T
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.660G>A (p.Trp220Ter) rs1596360430
NM_002693.3(POLG):c.663T>C (p.Tyr221=) rs1596360425
NM_002693.3(POLG):c.666C>T (p.Ser222=) rs1169956926
NM_002693.3(POLG):c.673A>G (p.Ser225Gly)
NM_002693.3(POLG):c.67_88del (p.Gly23fs) rs2055630470
NM_002693.3(POLG):c.680G>A (p.Arg227Gln)
NM_002693.3(POLG):c.684G>A (p.Leu228=) rs2141806818
NM_002693.3(POLG):c.691G>A (p.Glu231Lys)
NM_002693.3(POLG):c.695G>C (p.Arg232Pro) rs113994093
NM_002693.3(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.3(POLG):c.702T>C (p.Ser234=) rs2141806756
NM_002693.3(POLG):c.705G>A (p.Trp235Ter) rs1567192879
NM_002693.3(POLG):c.70C>A (p.Arg24Ser) rs1196273210
NM_002693.3(POLG):c.70C>T (p.Arg24Cys) 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.720G>A (p.Ser240=)
NM_002693.3(POLG):c.725C>A (p.Ala242Asp)
NM_002693.3(POLG):c.740del (p.Leu247fs)
NM_002693.3(POLG):c.74G>T (p.Trp25Leu)
NM_002693.3(POLG):c.76G>A (p.Val26Ile)
NM_002693.3(POLG):c.78C>T (p.Val26=)
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
NM_002693.3(POLG):c.799G>C (p.Val267Leu) rs1567192788
NM_002693.3(POLG):c.82A>T (p.Ser28Cys) rs1567194544
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.855+1G>C
NM_002693.3(POLG):c.85T>C (p.Ser29Pro)
NM_002693.3(POLG):c.87C>G (p.Ser29=)
NM_002693.3(POLG):c.884dup (p.Met295fs)
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
NM_002693.3(POLG):c.89_100del (p.Val30_Ser33del)
NM_002693.3(POLG):c.934_935del (p.Trp312fs)
NM_002693.3(POLG):c.93C>G (p.Pro31=)
NM_002693.3(POLG):c.93C>T (p.Pro31=) rs1242493308
NM_002693.3(POLG):c.94G>A (p.Ala32Thr)
NM_002693.3(POLG):c.951_961dup (p.Lys321fs) rs1596359629
NM_002693.3(POLG):c.96G>A (p.Ala32=)
NM_002693.3(POLG):c.96G>C (p.Ala32=)
NM_002693.3(POLG):c.96G>T (p.Ala32=)
NM_002693.3(POLG):c.9C>T (p.Arg3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.