ClinVar Miner

List of variants in gene PGM3 studied for immunodeficiency 23

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 453
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HGVS dbSNP gnomAD frequency
NM_015599.3(PGM3):c.1281A>G (p.Glu427=) rs542948 0.34845
NM_015599.3(PGM3):c.-2-190T>A rs73749738 0.02750
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574 0.00411
NM_015599.3(PGM3):c.389+12A>T rs150967479 0.00195
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) rs149679266 0.00141
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_015599.3(PGM3):c.389+3G>A rs201392846 0.00043
NM_015599.3(PGM3):c.1030-11A>G rs370851424 0.00041
NM_015599.3(PGM3):c.-2-226T>C rs373825865 0.00034
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200 0.00030
NM_015599.3(PGM3):c.-2-225C>T rs773094385 0.00026
NM_015599.3(PGM3):c.349C>A (p.Leu117Met) rs190279776 0.00024
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val) rs34238319 0.00023
NM_015599.3(PGM3):c.787+8G>A rs778342353 0.00022
NM_015599.3(PGM3):c.439C>T (p.Leu147=) rs142142489 0.00019
NM_015599.3(PGM3):c.178A>G (p.Met60Val) rs114464760 0.00016
NM_015599.3(PGM3):c.285A>G (p.Ala95=) rs147051437 0.00015
NM_015599.3(PGM3):c.1204G>A (p.Ala402Thr) rs139511953 0.00013
NM_015599.3(PGM3):c.38A>G (p.His13Arg) rs142328170 0.00011
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter) rs1033477931 0.00008
NM_015599.3(PGM3):c.609T>G (p.Asp203Glu) rs370293418 0.00007
NM_015599.3(PGM3):c.450A>G (p.Gln150=) rs755097152 0.00006
NM_015599.3(PGM3):c.1020A>C (p.Glu340Asp) rs200381959 0.00005
NM_015599.3(PGM3):c.1030-13G>A rs368482842 0.00005
NM_015599.3(PGM3):c.1243-14_1243-3del rs746204699 0.00005
NM_015599.3(PGM3):c.301G>C (p.Asp101His) rs775939917 0.00005
NM_015599.3(PGM3):c.592-19G>A rs373321504 0.00005
NM_015599.3(PGM3):c.-2-195C>G rs1019772614 0.00004
NM_015599.3(PGM3):c.1040A>G (p.Tyr347Cys) rs139056409 0.00004
NM_015599.3(PGM3):c.513G>A (p.Thr171=) rs374155024 0.00004
NM_015599.3(PGM3):c.-2-166C>T rs755174589 0.00003
NM_015599.3(PGM3):c.-2-187G>A rs910637202 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_015599.3(PGM3):c.-2-19A>G rs952650904 0.00003
NM_015599.3(PGM3):c.-2-208A>G rs1162624008 0.00003
NM_015599.3(PGM3):c.106G>C (p.Asp36His) rs748290769 0.00003
NM_015599.3(PGM3):c.11G>A (p.Gly4Asp) rs762878360 0.00003
NM_015599.3(PGM3):c.1242+3C>T rs201135600 0.00003
NM_015599.3(PGM3):c.169A>G (p.Ile57Val) rs778562800 0.00003
NM_015599.3(PGM3):c.330C>T (p.Ser110=) rs769298662 0.00003
NM_015599.3(PGM3):c.505C>G (p.Arg169Gly) rs142161221 0.00003
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser) rs148817553 0.00003
NM_015599.3(PGM3):c.787+17C>T rs1788189509 0.00003
NM_015599.3(PGM3):c.787+7C>T rs376979392 0.00003
NM_015599.3(PGM3):c.946-20G>C rs188649466 0.00003
NM_015599.3(PGM3):c.984A>G (p.Ala328=) rs746481255 0.00003
NM_015599.3(PGM3):c.1243-16G>A rs370300657 0.00002
NM_015599.3(PGM3):c.212A>G (p.Asn71Ser) rs755618669 0.00002
NM_015599.3(PGM3):c.405A>G (p.Lys135=) rs777989465 0.00002
NM_015599.3(PGM3):c.458-7A>G rs771921647 0.00002
NM_015599.3(PGM3):c.506G>A (p.Arg169Gln) rs752438675 0.00002
NM_015599.3(PGM3):c.50A>G (p.Asn17Ser) rs369116726 0.00002
NM_015599.3(PGM3):c.847G>A (p.Val283Ile) rs1339891026 0.00002
NM_015599.3(PGM3):c.-2-12T>C rs1789001223 0.00001
NM_015599.3(PGM3):c.-2-155G>A rs529053302 0.00001
NM_015599.3(PGM3):c.-2-164A>G rs1263711095 0.00001
NM_015599.3(PGM3):c.-2-17A>G rs376168024 0.00001
NM_015599.3(PGM3):c.-2-185C>T rs565900346 0.00001
NM_015599.3(PGM3):c.-2-1G>C rs1483237450 0.00001
NM_015599.3(PGM3):c.-2-209C>A rs1438440008 0.00001
NM_015599.3(PGM3):c.-2-210C>G rs1789020478 0.00001
NM_015599.3(PGM3):c.-2-218G>A rs952702867 0.00001
NM_015599.3(PGM3):c.-2-227A>C rs762473433 0.00001
NM_015599.3(PGM3):c.-2-243G>A rs1328940108 0.00001
NM_015599.3(PGM3):c.-2-3T>C rs1789000800 0.00001
NM_015599.3(PGM3):c.1003A>G (p.Thr335Ala) rs1787955099 0.00001
NM_015599.3(PGM3):c.1006C>T (p.Arg336Trp) rs748755438 0.00001
NM_015599.3(PGM3):c.1029+10C>G rs780749497 0.00001
NM_015599.3(PGM3):c.1030-7G>T rs1420526777 0.00001
NM_015599.3(PGM3):c.1039T>C (p.Tyr347His) rs958896393 0.00001
NM_015599.3(PGM3):c.1041T>C (p.Tyr347=) rs1254194549 0.00001
NM_015599.3(PGM3):c.1047T>G (p.Thr349=) rs929818392 0.00001
NM_015599.3(PGM3):c.1119G>T (p.Gly373=) rs1787732034 0.00001
NM_015599.3(PGM3):c.1126A>C (p.Thr376Pro) rs1562417226 0.00001
NM_015599.3(PGM3):c.1128+18T>C rs754127394 0.00001
NM_015599.3(PGM3):c.1129-16T>C rs112271639 0.00001
NM_015599.3(PGM3):c.1129-18T>G rs759889751 0.00001
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu) rs774568856 0.00001
NM_015599.3(PGM3):c.1188T>A (p.Asp396Glu) rs1787597946 0.00001
NM_015599.3(PGM3):c.1224T>G (p.Ile408Met) rs2538065683 0.00001
NM_015599.3(PGM3):c.1242+10G>C rs779680576 0.00001
NM_015599.3(PGM3):c.1242+10G>T rs779680576 0.00001
NM_015599.3(PGM3):c.1242+17C>T rs1787590394 0.00001
NM_015599.3(PGM3):c.1242+20T>C rs771946820 0.00001
NM_015599.3(PGM3):c.1285A>G (p.Ile429Val) rs750802092 0.00001
NM_015599.3(PGM3):c.1289T>G (p.Leu430Trp) rs2538026415 0.00001
NM_015599.3(PGM3):c.133T>C (p.Leu45=) rs1353330839 0.00001
NM_015599.3(PGM3):c.136G>A (p.Ala46Thr) rs1181199519 0.00001
NM_015599.3(PGM3):c.205-19_205-18insAAAC rs1481942830 0.00001
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453 0.00001
NM_015599.3(PGM3):c.22A>G (p.Lys8Glu) rs749320607 0.00001
NM_015599.3(PGM3):c.243A>G (p.Glu81=) rs766336105 0.00001
NM_015599.3(PGM3):c.249G>A (p.Leu83=) rs1341768653 0.00001
NM_015599.3(PGM3):c.252A>G (p.Ala84=) rs752597258 0.00001
NM_015599.3(PGM3):c.264G>A (p.Glu88=) rs754050125 0.00001
NM_015599.3(PGM3):c.322G>C (p.Asp108His) rs748936671 0.00001
NM_015599.3(PGM3):c.357A>G (p.Gln119=) rs754954770 0.00001
NM_015599.3(PGM3):c.379del (p.Arg127fs) rs770298942 0.00001
NM_015599.3(PGM3):c.384T>C (p.Asp128=) rs1170829425 0.00001
NM_015599.3(PGM3):c.389+11G>C rs1488128156 0.00001
NM_015599.3(PGM3):c.389+4A>G rs994978040 0.00001
NM_015599.3(PGM3):c.39C>T (p.His13=) rs763886701 0.00001
NM_015599.3(PGM3):c.404A>G (p.Lys135Arg) rs988238790 0.00001
NM_015599.3(PGM3):c.426T>C (p.Asp142=) rs1788634870 0.00001
NM_015599.3(PGM3):c.42C>T (p.Ala14=) rs1277674472 0.00001
NM_015599.3(PGM3):c.436G>A (p.Val146Ile) rs1270609084 0.00001
NM_015599.3(PGM3):c.457+19T>C rs1788629556 0.00001
NM_015599.3(PGM3):c.458-11T>G rs367656789 0.00001
NM_015599.3(PGM3):c.458-14T>C rs1339684418 0.00001
NM_015599.3(PGM3):c.489C>T (p.His163=) rs911182937 0.00001
NM_015599.3(PGM3):c.493A>G (p.Met165Val) rs757625553 0.00001
NM_015599.3(PGM3):c.498G>A (p.Val166=) rs754265040 0.00001
NM_015599.3(PGM3):c.501T>C (p.Tyr167=) rs1232828335 0.00001
NM_015599.3(PGM3):c.512C>T (p.Thr171Met) rs368371936 0.00001
NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) rs762678772 0.00001
NM_015599.3(PGM3):c.563C>G (p.Ser188Cys) rs757821755 0.00001
NM_015599.3(PGM3):c.567G>A (p.Lys189=) rs754467402 0.00001
NM_015599.3(PGM3):c.574G>A (p.Val192Met) rs778255624 0.00001
NM_015599.3(PGM3):c.584C>T (p.Thr195Ile) rs1254419923 0.00001
NM_015599.3(PGM3):c.585C>T (p.Thr195=) rs756553587 0.00001
NM_015599.3(PGM3):c.591+13T>C rs765931912 0.00001
NM_015599.3(PGM3):c.613T>C (p.Tyr205His) rs754646068 0.00001
NM_015599.3(PGM3):c.696G>A (p.Leu232=) rs1788198677 0.00001
NM_015599.3(PGM3):c.69C>T (p.Tyr23=) rs202123065 0.00001
NM_015599.3(PGM3):c.703C>G (p.Gln235Glu) rs774767366 0.00001
NM_015599.3(PGM3):c.708G>A (p.Leu236=) rs773790445 0.00001
NM_015599.3(PGM3):c.750A>C (p.Gly250=) rs748661694 0.00001
NM_015599.3(PGM3):c.756C>T (p.Asp252=) rs1788195069 0.00001
NM_015599.3(PGM3):c.780T>A (p.Pro260=) rs755347008 0.00001
NM_015599.3(PGM3):c.787+5G>A rs779711753 0.00001
NM_015599.3(PGM3):c.807T>C (p.Asn269=) rs372021697 0.00001
NM_015599.3(PGM3):c.828T>C (p.Asp276=) rs973070018 0.00001
NM_015599.3(PGM3):c.86G>A (p.Arg29Gln) rs375717834 0.00001
NM_015599.3(PGM3):c.873C>T (p.Gly291=) rs778451478 0.00001
NM_015599.3(PGM3):c.882T>C (p.His294=) rs1342112728 0.00001
NM_015599.3(PGM3):c.897C>T (p.Asp299=) rs777605557 0.00001
NM_015599.3(PGM3):c.90G>A (p.Thr30=) rs771898439 0.00001
NM_015599.3(PGM3):c.958T>C (p.Leu320=) rs775825306 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_015599.3(PGM3):c.999T>C (p.Ser333=) rs778456708 0.00001
NC_000006.11:g.(?_83878953)_(83900987_?)del
NC_000006.11:g.(?_83878953)_(83900987_?)dup
NC_000006.11:g.(?_83888372)_(83889706_?)del
NM_015599.3(PGM3):c.-2-10A>G rs2538236842
NM_015599.3(PGM3):c.-2-156G>A rs549230069
NM_015599.3(PGM3):c.-2-156G>C rs549230069
NM_015599.3(PGM3):c.-2-160C>A rs2538239776
NM_015599.3(PGM3):c.-2-162C>G rs1360345955
NM_015599.3(PGM3):c.-2-166C>G rs755174589
NM_015599.3(PGM3):c.-2-16T>C rs2538236914
NM_015599.3(PGM3):c.-2-171T>A rs2538239953
NM_015599.3(PGM3):c.-2-176G>T rs776399870
NM_015599.3(PGM3):c.-2-180T>C rs2128509286
NM_015599.3(PGM3):c.-2-186A>G rs2128509300
NM_015599.3(PGM3):c.-2-190T>C rs73749738
NM_015599.3(PGM3):c.-2-194C>G rs753019951
NM_015599.3(PGM3):c.-2-198A>C rs901461652
NM_015599.3(PGM3):c.-2-201dup
NM_015599.3(PGM3):c.-2-204G>A rs1418276932
NM_015599.3(PGM3):c.-2-213T>G rs2538241037
NM_015599.3(PGM3):c.-2-218G>T rs952702867
NM_015599.3(PGM3):c.-2-228T>C rs2538241219
NM_015599.3(PGM3):c.-2-233T>G rs1343116473
NM_015599.3(PGM3):c.-2-234A>G rs2538241385
NM_015599.3(PGM3):c.-2-238del rs2128509412
NM_015599.3(PGM3):c.-2-242_-2-241del rs1236597304
NM_015599.3(PGM3):c.-2-245_-2-237del rs1449742310
NM_015599.3(PGM3):c.1005A>G (p.Thr335=) rs992760763
NM_015599.3(PGM3):c.1008G>A (p.Arg336=) rs918519577
NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp) rs587777416
NM_015599.3(PGM3):c.1029+12T>C rs1034568438
NM_015599.3(PGM3):c.1029+12T>G rs1034568438
NM_015599.3(PGM3):c.1029+15T>C rs2128493670
NM_015599.3(PGM3):c.1029+5T>G rs2128493694
NM_015599.3(PGM3):c.1030-10T>A rs368294786
NM_015599.3(PGM3):c.1030-10T>C rs368294786
NM_015599.3(PGM3):c.1030-13G>C rs368482842
NM_015599.3(PGM3):c.1030-6T>C rs2538082225
NM_015599.3(PGM3):c.1030-8T>C rs2538082298
NM_015599.3(PGM3):c.1030G>C (p.Val344Leu) rs2128490985
NM_015599.3(PGM3):c.1030G>T (p.Val344Leu) rs2128490985
NM_015599.3(PGM3):c.1032A>G (p.Val344=) rs35146419
NM_015599.3(PGM3):c.1035T>A (p.Pro345=) rs1368766243
NM_015599.3(PGM3):c.1038C>T (p.Val346=) rs749028501
NM_015599.3(PGM3):c.1050G>T (p.Lys350Asn)
NM_015599.3(PGM3):c.1051A>T (p.Thr351Ser) rs2538081686
NM_015599.3(PGM3):c.1059A>G (p.Val353=) rs2538081631
NM_015599.3(PGM3):c.1063C>G (p.His355Asp) rs2128490958
NM_015599.3(PGM3):c.1104T>C (p.Tyr368=) rs2538081181
NM_015599.3(PGM3):c.1104T>G (p.Tyr368Ter) rs2538081181
NM_015599.3(PGM3):c.111T>C (p.His37=) rs1788989545
NM_015599.3(PGM3):c.1121A>G (p.His374Arg) rs2538080984
NM_015599.3(PGM3):c.1128+10_1128+12del rs2538080801
NM_015599.3(PGM3):c.1128+1G>A rs2538080888
NM_015599.3(PGM3):c.1128+2dup rs2128490930
NM_015599.3(PGM3):c.1128+9T>C
NM_015599.3(PGM3):c.1129-12_1129-10del
NM_015599.3(PGM3):c.1129-17A>C rs2538066950
NM_015599.3(PGM3):c.1129-17A>G rs2538066950
NM_015599.3(PGM3):c.1129-20T>C rs2538067039
NM_015599.3(PGM3):c.1129-20T>G rs2538067039
NM_015599.3(PGM3):c.1129-4G>C rs2538066831
NM_015599.3(PGM3):c.1129-8T>C rs2538066869
NM_015599.3(PGM3):c.1131A>G (p.Ala377=) rs1177488532
NM_015599.3(PGM3):c.1131A>T (p.Ala377=) rs1177488532
NM_015599.3(PGM3):c.1137T>C (p.Phe379=) rs1235287635
NM_015599.3(PGM3):c.1143A>T (p.Thr381=) rs2538066607
NM_015599.3(PGM3):c.1145C>G (p.Ala382Gly) rs2128489483
NM_015599.3(PGM3):c.1146T>C (p.Ala382=) rs2538066565
NM_015599.3(PGM3):c.1146T>G (p.Ala382=) rs2538066565
NM_015599.3(PGM3):c.1153_1157del (p.Met385fs) rs2538066459
NM_015599.3(PGM3):c.1165_1166del (p.Gln389fs) rs1787601205
NM_015599.3(PGM3):c.1166A>G (p.Gln389Arg) rs1787600940
NM_015599.3(PGM3):c.1167A>G (p.Gln389=) rs2538066324
NM_015599.3(PGM3):c.1175AAC[1] (p.Gln393del) rs1296012320
NM_015599.3(PGM3):c.1188T>C (p.Asp396=) rs1787597946
NM_015599.3(PGM3):c.1194A>G (p.Lys398=)
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs) rs759187140
NM_015599.3(PGM3):c.1198_1202dup (p.Ala402fs) rs1452031238
NM_015599.3(PGM3):c.1215T>G (p.Leu405=)
NM_015599.3(PGM3):c.1227T>A (p.Ile409=) rs2538065628
NM_015599.3(PGM3):c.122G>A (p.Arg41His) rs780464371
NM_015599.3(PGM3):c.1231T>C (p.Leu411=) rs2538065567
NM_015599.3(PGM3):c.1242+19G>C rs1787590186
NM_015599.3(PGM3):c.1243-14T>C rs184493977
NM_015599.3(PGM3):c.1243-14T>G rs184493977
NM_015599.3(PGM3):c.1243-15_1243-4del rs773922847
NM_015599.3(PGM3):c.1243-4G>T rs2538027660
NM_015599.3(PGM3):c.1243-6T>A rs771721305
NM_015599.3(PGM3):c.1243-6T>C rs771721305
NM_015599.3(PGM3):c.1243-7T>C rs2128484530
NM_015599.3(PGM3):c.1243-9C>A
NM_015599.3(PGM3):c.1243-9C>T rs2128484542
NM_015599.3(PGM3):c.1254T>C (p.Asp418=) rs748440104
NM_015599.3(PGM3):c.1255_1277del (p.Asp418_Ala419insTer) rs1373505634
NM_015599.3(PGM3):c.1257T>G (p.Ala419=) rs1583255127
NM_015599.3(PGM3):c.1268T>C (p.Met423Thr) rs1554257039
NM_015599.3(PGM3):c.1268T>G (p.Met423Arg) rs1554257039
NM_015599.3(PGM3):c.1272G>C (p.Leu424=) rs2538026934
NM_015599.3(PGM3):c.1275G>C (p.Val425=) rs2538026883
NM_015599.3(PGM3):c.1277T>C (p.Ile426Thr) rs1787247116
NM_015599.3(PGM3):c.1294C>T (p.Leu432=) rs2128484391
NM_015599.3(PGM3):c.1296G>C (p.Leu432=) rs2538026298
NM_015599.3(PGM3):c.1303T>C (p.Leu435=) rs2538026237
NM_015599.3(PGM3):c.1305G>A (p.Leu435=) rs2538026215
NM_015599.3(PGM3):c.1314A>G (p.Gln438=) rs984829325
NM_015599.3(PGM3):c.1317G>A (p.Gln439=) rs761523709
NM_015599.3(PGM3):c.1327C>G (p.Leu443Val) rs141509908
NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe) rs141509908
NM_015599.3(PGM3):c.1330_1333dup (p.Thr445fs) rs777118863
NM_015599.3(PGM3):c.1332T>C (p.Tyr444=)
NM_015599.3(PGM3):c.1349_1352dup (p.Leu452fs)
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.1353A>G (p.Gln451=) rs2128484343
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) rs587777414
NM_015599.3(PGM3):c.1359dup (p.Val454fs) rs2538025358
NM_015599.3(PGM3):c.1365+10A>G
NM_015599.3(PGM3):c.1365+13C>G rs2538024703
NM_015599.3(PGM3):c.1365+17A>G rs758969022
NM_015599.3(PGM3):c.1365+17A>T rs758969022
NM_015599.3(PGM3):c.1365+19_1365+23del rs1787234071
NM_015599.3(PGM3):c.1365+20G>A rs1251388484
NM_015599.3(PGM3):c.1365+5G>C rs966198070
NM_015599.3(PGM3):c.1365+8A>G rs776936659
NM_015599.3(PGM3):c.137C>G (p.Ala46Gly) rs1261795420
NM_015599.3(PGM3):c.143T>C (p.Leu48Pro) rs2128508906
NM_015599.3(PGM3):c.150A>G (p.Ser50=) rs2538233934
NM_015599.3(PGM3):c.152_153del (p.Lys51fs) rs2538233913
NM_015599.3(PGM3):c.15T>C (p.Ala5=) rs760537659
NM_015599.3(PGM3):c.161A>C (p.Lys54Thr) rs745501523
NM_015599.3(PGM3):c.162del (p.Lys54fs) rs764377394
NM_015599.3(PGM3):c.162dup (p.Ser55fs) rs764377394
NM_015599.3(PGM3):c.168T>C (p.Thr56=) rs2538233619
NM_015599.3(PGM3):c.168T>G (p.Thr56=) rs2538233619
NM_015599.3(PGM3):c.172G>C (p.Gly58Arg) rs2538233497
NM_015599.3(PGM3):c.179T>C (p.Met60Thr) rs753389438
NM_015599.3(PGM3):c.181G>T (p.Val61Leu) rs1583298383
NM_015599.3(PGM3):c.183A>G (p.Val61=) rs2538233357
NM_015599.3(PGM3):c.186A>G (p.Thr62=)
NM_015599.3(PGM3):c.189G>A (p.Ala63=) rs1416114507
NM_015599.3(PGM3):c.197A>C (p.Asn66Thr) rs2538233148
NM_015599.3(PGM3):c.204+19T>C rs969999317
NM_015599.3(PGM3):c.204+19T>G
NM_015599.3(PGM3):c.204+7G>C rs199882868
NM_015599.3(PGM3):c.204+8del rs2538232947
NM_015599.3(PGM3):c.204+9T>G rs2538232906
NM_015599.3(PGM3):c.205-13T>C rs2538212461
NM_015599.3(PGM3):c.205-14G>A rs1196885851
NM_015599.3(PGM3):c.205-9T>C rs867146994
NM_015599.3(PGM3):c.215G>A (p.Gly72Asp) rs1788807472
NM_015599.3(PGM3):c.223T>C (p.Leu75=) rs2538211910
NM_015599.3(PGM3):c.226del (p.Val76fs) rs2538211894
NM_015599.3(PGM3):c.230A>T (p.Asp77Val) rs1788806780
NM_015599.3(PGM3):c.239G>A (p.Gly80Asp) rs2538211699
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) rs267608260
NM_015599.3(PGM3):c.251C>T (p.Ala84Val) rs2128506463
NM_015599.3(PGM3):c.253C>G (p.Pro85Ala) rs1788804378
NM_015599.3(PGM3):c.273C>T (p.Ala91=) rs2538211389
NM_015599.3(PGM3):c.276C>T (p.Thr92=) rs2538211376
NM_015599.3(PGM3):c.27C>T (p.Tyr9=)
NM_015599.3(PGM3):c.286A>G (p.Asn96Asp) rs1296862413
NM_015599.3(PGM3):c.294G>A (p.Glu98=)
NM_015599.3(PGM3):c.315G>A (p.Val105=) rs2538210962
NM_015599.3(PGM3):c.322_323insGATTG (p.Asp108fs) rs2538210853
NM_015599.3(PGM3):c.331G>A (p.Glu111Lys) rs2128506406
NM_015599.3(PGM3):c.335A>G (p.Lys112Arg) rs1788799231
NM_015599.3(PGM3):c.338A>C (p.Glu113Ala) rs1207568204
NM_015599.3(PGM3):c.342T>C (p.Ala114=)
NM_015599.3(PGM3):c.358G>T (p.Asp120Tyr) rs1788796668
NM_015599.3(PGM3):c.362C>G (p.Ala121Gly) rs201506489
NM_015599.3(PGM3):c.363C>T (p.Ala121=) rs1788796145
NM_015599.3(PGM3):c.369dup (p.Val124fs) rs1788795866
NM_015599.3(PGM3):c.378dup (p.Arg127Ter) rs2128506370
NM_015599.3(PGM3):c.389+19_389+21delinsTTG rs2538209491
NM_015599.3(PGM3):c.389+20G>T rs1788788341
NM_015599.3(PGM3):c.389+6G>A rs1478742693
NM_015599.3(PGM3):c.390-17T>C rs2538191403
NM_015599.3(PGM3):c.390-232_417del
NM_015599.3(PGM3):c.390-8T>C rs2538191290
NM_015599.3(PGM3):c.392C>G (p.Pro131Arg) rs2538190998
NM_015599.3(PGM3):c.398_413del (p.Ser133fs) rs1404084330
NM_015599.3(PGM3):c.402G>A (p.Glu134=) rs745659258
NM_015599.3(PGM3):c.402G>C (p.Glu134Asp) rs745659258
NM_015599.3(PGM3):c.409T>C (p.Ser137Pro) rs1562428894
NM_015599.3(PGM3):c.411A>T (p.Ser137=) rs2092650
NM_015599.3(PGM3):c.414del (p.Gln138fs)
NM_015599.3(PGM3):c.417T>A (p.Ser139=) rs2538190530
NM_015599.3(PGM3):c.417T>C (p.Ser139=) rs2538190530
NM_015599.3(PGM3):c.420A>G (p.Val140=) rs1246323902
NM_015599.3(PGM3):c.421A>G (p.Ile141Val) rs1788635381
NM_015599.3(PGM3):c.421dup (p.Ile141fs) rs2128504331
NM_015599.3(PGM3):c.42C>G (p.Ala14=)
NM_015599.3(PGM3):c.431T>C (p.Val144Ala) rs2538190215
NM_015599.3(PGM3):c.436G>T (p.Val146Phe) rs1270609084
NM_015599.3(PGM3):c.43_46dup (p.Pro16fs) rs2538235844
NM_015599.3(PGM3):c.451T>C (p.Phe151Leu) rs2538189943
NM_015599.3(PGM3):c.457+13C>T rs1162629460
NM_015599.3(PGM3):c.457+15T>C rs2538189657
NM_015599.3(PGM3):c.457+16G>A rs2128504254
NM_015599.3(PGM3):c.457+18G>C rs374682677
NM_015599.3(PGM3):c.457+2T>G
NM_015599.3(PGM3):c.457+7A>T rs766825607
NM_015599.3(PGM3):c.458-16T>G rs2538153487
NM_015599.3(PGM3):c.458-9C>A rs12197148
NM_015599.3(PGM3):c.458-9C>T rs12197148
NM_015599.3(PGM3):c.45G>A (p.Lys15=) rs2538235871
NM_015599.3(PGM3):c.467T>C (p.Leu156Ser)
NM_015599.3(PGM3):c.473C>G (p.Thr158Arg) rs760200977
NM_015599.3(PGM3):c.486G>A (p.Leu162=) rs750844550
NM_015599.3(PGM3):c.492C>T (p.Tyr164=) rs2538152384
NM_015599.3(PGM3):c.493A>T (p.Met165Leu) rs757625553
NM_015599.3(PGM3):c.510C>A (p.Asn170Lys) rs2128498553
NM_015599.3(PGM3):c.51T>C (p.Asn17=) rs1372571372
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.522A>G (p.Arg174=) rs1023874839
NM_015599.3(PGM3):c.525T>C (p.Tyr175=) rs747175555
NM_015599.3(PGM3):c.532G>A (p.Ala178Thr) rs1041974128
NM_015599.3(PGM3):c.544G>A (p.Gly182Ser) rs2538151499
NM_015599.3(PGM3):c.558A>T (p.Lys186Asn) rs1426432082
NM_015599.3(PGM3):c.563_564del (p.Leu187_Ser188insTer) rs2538151189
NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) rs1251637218
NM_015599.3(PGM3):c.573T>C (p.Phe191=) rs2128498476
NM_015599.3(PGM3):c.581T>C (p.Leu194Pro) rs2128498468
NM_015599.3(PGM3):c.588A>G (p.Lys196=)
NM_015599.3(PGM3):c.591+10T>C rs2538150672
NM_015599.3(PGM3):c.591+11T>C rs2538150626
NM_015599.3(PGM3):c.591+19A>G rs1308664389
NM_015599.3(PGM3):c.591+8G>A rs2538150716
NM_015599.3(PGM3):c.592-11_592-10del rs2538141569
NM_015599.3(PGM3):c.592-4G>A rs2538141494
NM_015599.3(PGM3):c.592-5T>C rs2538141517
NM_015599.3(PGM3):c.592G>A (p.Ala198Thr) rs2538141429
NM_015599.3(PGM3):c.594T>G (p.Ala198=) rs778449780
NM_015599.3(PGM3):c.60C>G (p.Ile20Met) rs750145657
NM_015599.3(PGM3):c.616A>C (p.Arg206=) rs2538141220
NM_015599.3(PGM3):c.620C>G (p.Ser207Ter) rs2538141187
NM_015599.3(PGM3):c.629T>C (p.Val210Ala) rs1395736662
NM_015599.3(PGM3):c.63T>G (p.Leu21=) rs2128508984
NM_015599.3(PGM3):c.64C>G (p.Gln22Glu) rs2538235439
NM_015599.3(PGM3):c.64C>T (p.Gln22Ter) rs2538235439
NM_015599.3(PGM3):c.654C>T (p.Ala218=) rs2538140836
NM_015599.3(PGM3):c.660G>A (p.Lys220=) rs911709261
NM_015599.3(PGM3):c.66A>G (p.Gln22=) rs1043867547
NM_015599.3(PGM3):c.678C>T (p.His226=)
NM_015599.3(PGM3):c.680A>G (p.Tyr227Cys) rs763858041
NM_015599.3(PGM3):c.681C>T (p.Tyr227=) rs1165598375
NM_015599.3(PGM3):c.711T>C (p.Phe237=)
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.720G>A (p.Gly240=) rs1788197307
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_015599.3(PGM3):c.745T>C (p.Cys249Arg) rs1788195656
NM_015599.3(PGM3):c.750A>T (p.Gly250=) rs748661694
NM_015599.3(PGM3):c.767_777del (p.Ser256fs) rs2128497316
NM_015599.3(PGM3):c.770A>T (p.His257Leu) rs369781935
NM_015599.3(PGM3):c.783A>C (p.Pro261=)
NM_015599.3(PGM3):c.783A>G (p.Pro261=) rs2538139683
NM_015599.3(PGM3):c.784C>T (p.Gln262Ter) rs1293351659
NM_015599.3(PGM3):c.787+12T>C rs2538139424
NM_015599.3(PGM3):c.787+15C>G rs2538139387
NM_015599.3(PGM3):c.787+17C>G rs1788189509
NM_015599.3(PGM3):c.787+19G>C
NM_015599.3(PGM3):c.787+1G>A
NM_015599.3(PGM3):c.787+20C>T rs955457725
NM_015599.3(PGM3):c.787+3A>G rs1788192479
NM_015599.3(PGM3):c.787+9T>C rs2538139491
NM_015599.3(PGM3):c.788-16T>C rs2538123785
NM_015599.3(PGM3):c.788-2A>G rs1788056577
NM_015599.3(PGM3):c.788-4C>T rs2538123589
NM_015599.3(PGM3):c.788G>C (p.Gly263Ala) rs1199492798
NM_015599.3(PGM3):c.806A>G (p.Asn269Ser) rs1055464349
NM_015599.3(PGM3):c.809A>G (p.Glu270Gly) rs2538123354
NM_015599.3(PGM3):c.816C>A (p.Cys272Ter) rs2538123289
NM_015599.3(PGM3):c.816C>T (p.Cys272=)
NM_015599.3(PGM3):c.822T>G (p.Ser274=) rs2538123250
NM_015599.3(PGM3):c.831A>C (p.Gly277=) rs771696627
NM_015599.3(PGM3):c.849T>C (p.Val283=) rs2538123080
NM_015599.3(PGM3):c.852T>C (p.Tyr284=)
NM_015599.3(PGM3):c.858C>T (p.Tyr286=) rs988171131
NM_015599.3(PGM3):c.85C>T (p.Arg29Ter) rs2538234999
NM_015599.3(PGM3):c.891T>G (p.Asp297Glu) rs587777415
NM_015599.3(PGM3):c.89C>A (p.Thr30Lys)
NM_015599.3(PGM3):c.907_919del (p.Thr303fs)
NM_015599.3(PGM3):c.908del (p.Thr303fs) rs2538122346
NM_015599.3(PGM3):c.918C>T (p.Ser306=) rs2128494940
NM_015599.3(PGM3):c.927T>G (p.Leu309=) rs1455689509
NM_015599.3(PGM3):c.930A>G (p.Lys310=) rs2538122110
NM_015599.3(PGM3):c.936C>T (p.Leu312=) rs2538122034
NM_015599.3(PGM3):c.939G>T (p.Leu313=) rs2538122019
NM_015599.3(PGM3):c.945+10G>A rs1788040631
NM_015599.3(PGM3):c.945+12G>A rs2538121658
NM_015599.3(PGM3):c.945+13G>A rs1395064024
NM_015599.3(PGM3):c.945+13G>T rs1395064024
NM_015599.3(PGM3):c.945+13del rs2538121614
NM_015599.3(PGM3):c.945+8G>C rs1000781954
NM_015599.3(PGM3):c.945+9G>C rs2128494907
NM_015599.3(PGM3):c.946-14T>C rs2538108815
NM_015599.3(PGM3):c.946-23_946-19del rs1386304008
NM_015599.3(PGM3):c.946-4C>T rs2128493797
NM_015599.3(PGM3):c.946-6G>T rs903572330
NM_015599.3(PGM3):c.946-7del rs758669509
NM_015599.3(PGM3):c.946-9T>C rs2128493807
NM_015599.3(PGM3):c.94G>A (p.Ala32Thr)
NM_015599.3(PGM3):c.94G>C (p.Ala32Pro) rs773608450
NM_015599.3(PGM3):c.963T>C (p.Asn321=)
NM_015599.3(PGM3):c.970G>A (p.Val324Ile) rs1367937900
NM_015599.3(PGM3):c.975A>G (p.Val325=) rs1462718508
NM_015599.3(PGM3):c.975A>T (p.Val325=) rs1462718508
NM_015599.3(PGM3):c.985T>C (p.Tyr329His) rs2538108193
NM_015599.3(PGM3):c.987T>C (p.Tyr329=)
NM_015599.3(PGM3):c.990A>G (p.Ala330=) rs2128493751
NM_015599.3(PGM3):c.99A>G (p.Glu33=) rs2538234765
NM_015599.3(PGM3):c.9A>G (p.Leu3=) rs1583298880

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