|
NM_015599.3(PGM3):c.1281A>G (p.Glu427=)
|
rs542948
|
0.35441
|
|
NM_015599.3(PGM3):c.1396G>A (p.Asp466Asn)
|
rs473267
|
0.35079
|
|
NM_015599.3(PGM3):c.-2-190T>A
|
rs73749738
|
0.02750
|
|
NM_015599.3(PGM3):c.1464C>T (p.Tyr488=)
|
rs34873318
|
0.01824
|
|
NM_015599.3(PGM3):c.1539+19A>G
|
rs115918938
|
0.00694
|
|
NM_015599.3(PGM3):c.33A>G (p.Ala11=)
|
rs150763574
|
0.00411
|
|
NM_015599.3(PGM3):c.389+12A>T
|
rs150967479
|
0.00214
|
|
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
|
0.00060
|
|
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
|
0.00033
|
|
NM_015599.3(PGM3):c.-2-225C>T
|
rs773094385
|
0.00030
|
|
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)
|
rs34238319
|
0.00024
|
|
NM_015599.3(PGM3):c.349C>A (p.Leu117Met)
|
rs190279776
|
0.00024
|
|
NM_015599.3(PGM3):c.787+8G>A
|
rs778342353
|
0.00022
|
|
NM_015599.3(PGM3):c.1612C>A (p.Pro538Thr)
|
rs143654268
|
0.00019
|
|
NM_015599.3(PGM3):c.439C>T (p.Leu147=)
|
rs142142489
|
0.00019
|
|
NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)
|
rs529906310
|
0.00016
|
|
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
|
0.00008
|
|
NM_015599.3(PGM3):c.506G>A (p.Arg169Gln)
|
rs752438675
|
0.00008
|
|
NM_015599.3(PGM3):c.1466A>G (p.Lys489Arg)
|
rs369328277
|
0.00007
|
|
NM_015599.3(PGM3):c.450A>G (p.Gln150=)
|
rs755097152
|
0.00006
|
|
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.1020A>C (p.Glu340Asp)
|
rs200381959
|
0.00004
|
|
NM_015599.3(PGM3):c.1040A>G (p.Tyr347Cys)
|
rs139056409
|
0.00004
|
|
NM_015599.3(PGM3):c.11G>A (p.Gly4Asp)
|
rs762878360
|
0.00004
|
|
NM_015599.3(PGM3):c.1395C>T (p.Thr465=)
|
rs540471794
|
0.00004
|
|
NM_015599.3(PGM3):c.1554C>A (p.His518Gln)
|
rs375523747
|
0.00004
|
|
NM_015599.3(PGM3):c.-2-166C>T
|
rs755174589
|
0.00003
|
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
|
NM_015599.3(PGM3):c.-2-208A>G
|
rs1162624008
|
0.00003
|
|
NM_015599.3(PGM3):c.1242+3C>T
|
rs201135600
|
0.00003
|
|
NM_015599.3(PGM3):c.1467G>A (p.Lys489=)
|
rs200072483
|
0.00003
|
|
NM_015599.3(PGM3):c.169A>G (p.Ile57Val)
|
rs778562800
|
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.69C>T (p.Tyr23=)
|
rs202123065
|
0.00003
|
|
NM_015599.3(PGM3):c.787+7C>T
|
rs376979392
|
0.00003
|
|
NM_015599.3(PGM3):c.984A>G (p.Ala328=)
|
rs746481255
|
0.00003
|
|
NM_015599.3(PGM3):c.1029+10C>G
|
rs780749497
|
0.00002
|
|
NM_015599.3(PGM3):c.1514G>A (p.Arg505Gln)
|
rs772233718
|
0.00002
|
|
NM_015599.3(PGM3):c.1601T>C (p.Ile534Thr)
|
rs746702734
|
0.00002
|
|
NM_015599.3(PGM3):c.212A>G (p.Asn71Ser)
|
rs755618669
|
0.00002
|
|
NM_015599.3(PGM3):c.458-7A>G
|
rs771921647
|
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.-2-1G>C
|
rs1483237450
|
0.00001
|
|
NM_015599.3(PGM3):c.-2-227A>C
|
rs762473433
|
0.00001
|
|
NM_015599.3(PGM3):c.1039T>C (p.Tyr347His)
|
rs958896393
|
0.00001
|
|
NM_015599.3(PGM3):c.1047T>G (p.Thr349=)
|
rs929818392
|
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.1135T>C (p.Phe379Leu)
|
rs774568856
|
0.00001
|
|
NM_015599.3(PGM3):c.136G>A (p.Ala46Thr)
|
rs1181199519
|
0.00001
|
|
NM_015599.3(PGM3):c.1459A>G (p.Lys487Glu)
|
rs199998117
|
0.00001
|
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
|
NM_015599.3(PGM3):c.1487G>A (p.Arg496Gln)
|
rs1447955006
|
0.00001
|
|
NM_015599.3(PGM3):c.1566A>G (p.Glu522=)
|
rs780767075
|
0.00001
|
|
NM_015599.3(PGM3):c.1590G>A (p.Leu530=)
|
rs1440528392
|
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.252A>G (p.Ala84=)
|
rs752597258
|
0.00001
|
|
NM_015599.3(PGM3):c.357A>G (p.Gln119=)
|
rs754954770
|
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.405A>G (p.Lys135=)
|
rs777989465
|
0.00001
|
|
NM_015599.3(PGM3):c.436G>A (p.Val146Ile)
|
rs1270609084
|
0.00001
|
|
NM_015599.3(PGM3):c.458-14T>C
|
rs1339684418
|
0.00001
|
|
NM_015599.3(PGM3):c.493A>G (p.Met165Val)
|
rs757625553
|
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.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.613T>C (p.Tyr205His)
|
rs754646068
|
0.00001
|
|
NM_015599.3(PGM3):c.703C>G (p.Gln235Glu)
|
rs774767366
|
0.00001
|
|
NM_015599.3(PGM3):c.787+5G>A
|
rs779711753
|
0.00001
|
|
NM_015599.3(PGM3):c.873C>T (p.Gly291=)
|
rs778451478
|
0.00001
|
|
NM_015599.3(PGM3):c.897C>T (p.Asp299=)
|
rs777605557
|
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
|
|
NC_000006.11:g.(?_83878953)_(83900987_?)del
|
|
|
|
NC_000006.11:g.(?_83878953)_(83900987_?)dup
|
|
|
|
NM_015599.3(PGM3):c.-2-10A>G
|
|
|
|
NM_015599.3(PGM3):c.-2-12T>C
|
|
|
|
NM_015599.3(PGM3):c.-2-155G>A
|
|
|
|
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
|
|
|
|
NM_015599.3(PGM3):c.-2-162C>G
|
|
|
|
NM_015599.3(PGM3):c.-2-164A>G
|
|
|
|
NM_015599.3(PGM3):c.-2-166C>G
|
rs755174589
|
|
|
NM_015599.3(PGM3):c.-2-16T>C
|
|
|
|
NM_015599.3(PGM3):c.-2-171T>A
|
|
|
|
NM_015599.3(PGM3):c.-2-176G>T
|
rs776399870
|
|
|
NM_015599.3(PGM3):c.-2-17A>G
|
|
|
|
NM_015599.3(PGM3):c.-2-180T>C
|
rs2128509286
|
|
|
NM_015599.3(PGM3):c.-2-185C>T
|
rs565900346
|
|
|
NM_015599.3(PGM3):c.-2-186A>G
|
rs2128509300
|
|
|
NM_015599.3(PGM3):c.-2-187G>A
|
|
|
|
NM_015599.3(PGM3):c.-2-190T>C
|
rs73749738
|
|
|
NM_015599.3(PGM3):c.-2-194C>G
|
|
|
|
NM_015599.3(PGM3):c.-2-195C>G
|
|
|
|
NM_015599.3(PGM3):c.-2-198A>C
|
|
|
|
NM_015599.3(PGM3):c.-2-19A>G
|
|
|
|
NM_015599.3(PGM3):c.-2-204G>A
|
|
|
|
NM_015599.3(PGM3):c.-2-210C>G
|
|
|
|
NM_015599.3(PGM3):c.-2-213T>G
|
|
|
|
NM_015599.3(PGM3):c.-2-218G>A
|
|
|
|
NM_015599.3(PGM3):c.-2-218G>T
|
|
|
|
NM_015599.3(PGM3):c.-2-228T>C
|
|
|
|
NM_015599.3(PGM3):c.-2-233T>G
|
|
|
|
NM_015599.3(PGM3):c.-2-234A>G
|
|
|
|
NM_015599.3(PGM3):c.-2-238del
|
rs2128509412
|
|
|
NM_015599.3(PGM3):c.-2-242_-2-241del
|
|
|
|
NM_015599.3(PGM3):c.-2-243G>A
|
rs1328940108
|
|
|
NM_015599.3(PGM3):c.-2-245_-2-237del
|
rs1449742310
|
|
|
NM_015599.3(PGM3):c.-2-3T>C
|
rs1789000800
|
|
|
NM_015599.3(PGM3):c.1003A>G (p.Thr335Ala)
|
rs1787955099
|
|
|
NM_015599.3(PGM3):c.1005A>G (p.Thr335=)
|
|
|
|
NM_015599.3(PGM3):c.1006C>T (p.Arg336Trp)
|
|
|
|
NM_015599.3(PGM3):c.1008G>A (p.Arg336=)
|
rs918519577
|
|
|
NM_015599.3(PGM3):c.1029+12T>C
|
|
|
|
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
|
|
|
|
NM_015599.3(PGM3):c.1030-13G>A
|
|
|
|
NM_015599.3(PGM3):c.1030-13G>C
|
|
|
|
NM_015599.3(PGM3):c.1030-6T>C
|
|
|
|
NM_015599.3(PGM3):c.1030-7G>T
|
|
|
|
NM_015599.3(PGM3):c.1030-8T>C
|
|
|
|
NM_015599.3(PGM3):c.1030G>C (p.Val344Leu)
|
rs2128490985
|
|
|
NM_015599.3(PGM3):c.1030G>T (p.Val344Leu)
|
|
|
|
NM_015599.3(PGM3):c.1032A>G (p.Val344=)
|
|
|
|
NM_015599.3(PGM3):c.1035T>A (p.Pro345=)
|
|
|
|
NM_015599.3(PGM3):c.1038C>T (p.Val346=)
|
rs749028501
|
|
|
NM_015599.3(PGM3):c.1041T>C (p.Tyr347=)
|
|
|
|
NM_015599.3(PGM3):c.1051A>T (p.Thr351Ser)
|
|
|
|
NM_015599.3(PGM3):c.1059A>G (p.Val353=)
|
|
|
|
NM_015599.3(PGM3):c.1063C>G (p.His355Asp)
|
rs2128490958
|
|
|
NM_015599.3(PGM3):c.106G>C (p.Asp36His)
|
|
|
|
NM_015599.3(PGM3):c.1104T>C (p.Tyr368=)
|
|
|
|
NM_015599.3(PGM3):c.1104T>G (p.Tyr368Ter)
|
|
|
|
NM_015599.3(PGM3):c.1119G>T (p.Gly373=)
|
|
|
|
NM_015599.3(PGM3):c.111T>C (p.His37=)
|
|
|
|
NM_015599.3(PGM3):c.1121A>G (p.His374Arg)
|
|
|
|
NM_015599.3(PGM3):c.1128+10_1128+12del
|
|
|
|
NM_015599.3(PGM3):c.1128+1G>A
|
|
|
|
NM_015599.3(PGM3):c.1128+2dup
|
rs2128490930
|
|
|
NM_015599.3(PGM3):c.1129-16T>C
|
|
|
|
NM_015599.3(PGM3):c.1129-17A>C
|
|
|
|
NM_015599.3(PGM3):c.1129-17A>G
|
|
|
|
NM_015599.3(PGM3):c.1129-18T>G
|
|
|
|
NM_015599.3(PGM3):c.1129-20T>C
|
|
|
|
NM_015599.3(PGM3):c.1129-20T>G
|
|
|
|
NM_015599.3(PGM3):c.1129-4G>C
|
|
|
|
NM_015599.3(PGM3):c.1129-8T>C
|
|
|
|
NM_015599.3(PGM3):c.1131A>G (p.Ala377=)
|
rs1177488532
|
|
|
NM_015599.3(PGM3):c.1131A>T (p.Ala377=)
|
|
|
|
NM_015599.3(PGM3):c.1137T>C (p.Phe379=)
|
rs1235287635
|
|
|
NM_015599.3(PGM3):c.1143A>T (p.Thr381=)
|
|
|
|
NM_015599.3(PGM3):c.1145C>G (p.Ala382Gly)
|
rs2128489483
|
|
|
NM_015599.3(PGM3):c.1146T>C (p.Ala382=)
|
|
|
|
NM_015599.3(PGM3):c.1146T>G (p.Ala382=)
|
|
|
|
NM_015599.3(PGM3):c.1153_1157del (p.Met385fs)
|
|
|
|
NM_015599.3(PGM3):c.1165_1166del (p.Gln389fs)
|
|
|
|
NM_015599.3(PGM3):c.1166A>G (p.Gln389Arg)
|
rs1787600940
|
|
|
NM_015599.3(PGM3):c.1167A>G (p.Gln389=)
|
|
|
|
NM_015599.3(PGM3):c.1175AAC[1] (p.Gln393del)
|
rs1296012320
|
|
|
NM_015599.3(PGM3):c.1188T>A (p.Asp396Glu)
|
|
|
|
NM_015599.3(PGM3):c.1188T>C (p.Asp396=)
|
rs1787597946
|
|
|
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
|
|
|
|
NM_015599.3(PGM3):c.1198_1202dup (p.Ala402fs)
|
|
|
|
NM_015599.3(PGM3):c.1224T>G (p.Ile408Met)
|
|
|
|
NM_015599.3(PGM3):c.1227T>A (p.Ile409=)
|
|
|
|
NM_015599.3(PGM3):c.122G>A (p.Arg41His)
|
|
|
|
NM_015599.3(PGM3):c.1231T>C (p.Leu411=)
|
|
|
|
NM_015599.3(PGM3):c.1242+10G>C
|
|
|
|
NM_015599.3(PGM3):c.1242+10G>T
|
|
|
|
NM_015599.3(PGM3):c.1242+17C>T
|
|
|
|
NM_015599.3(PGM3):c.1242+19G>C
|
|
|
|
NM_015599.3(PGM3):c.1242+20T>C
|
|
|
|
NM_015599.3(PGM3):c.1243-14T>C
|
|
|
|
NM_015599.3(PGM3):c.1243-14T>G
|
|
|
|
NM_015599.3(PGM3):c.1243-15_1243-4del
|
rs773922847
|
|
|
NM_015599.3(PGM3):c.1243-16G>A
|
|
|
|
NM_015599.3(PGM3):c.1243-4G>T
|
|
|
|
NM_015599.3(PGM3):c.1243-6T>A
|
|
|
|
NM_015599.3(PGM3):c.1243-6T>C
|
|
|
|
NM_015599.3(PGM3):c.1243-7T>C
|
rs2128484530
|
|
|
NM_015599.3(PGM3):c.1243-9C>T
|
|
|
|
NM_015599.3(PGM3):c.1254T>C (p.Asp418=)
|
|
|
|
NM_015599.3(PGM3):c.1255_1277del (p.Asp418_Ala419insTer)
|
|
|
|
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=)
|
|
|
|
NM_015599.3(PGM3):c.1275G>C (p.Val425=)
|
|
|
|
NM_015599.3(PGM3):c.1277T>C (p.Ile426Thr)
|
|
|
|
NM_015599.3(PGM3):c.1285A>G (p.Ile429Val)
|
|
|
|
NM_015599.3(PGM3):c.1289T>G (p.Leu430Trp)
|
|
|
|
NM_015599.3(PGM3):c.1294C>T (p.Leu432=)
|
rs2128484391
|
|
|
NM_015599.3(PGM3):c.1296G>C (p.Leu432=)
|
|
|
|
NM_015599.3(PGM3):c.1303T>C (p.Leu435=)
|
|
|
|
NM_015599.3(PGM3):c.1305G>A (p.Leu435=)
|
|
|
|
NM_015599.3(PGM3):c.1314A>G (p.Gln438=)
|
rs984829325
|
|
|
NM_015599.3(PGM3):c.1317G>A (p.Gln439=)
|
|
|
|
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.133T>C (p.Leu45=)
|
|
|
|
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)
|
|
|
|
NM_015599.3(PGM3):c.1365+13C>G
|
|
|
|
NM_015599.3(PGM3):c.1365+17A>G
|
|
|
|
NM_015599.3(PGM3):c.1365+17A>T
|
|
|
|
NM_015599.3(PGM3):c.1365+19_1365+23del
|
|
|
|
NM_015599.3(PGM3):c.1365+20G>A
|
|
|
|
NM_015599.3(PGM3):c.1365+5G>C
|
|
|
|
NM_015599.3(PGM3):c.1365+8A>G
|
|
|
|
NM_015599.3(PGM3):c.1370C>T (p.Ala457Val)
|
rs2128479369
|
|
|
NM_015599.3(PGM3):c.1371A>G (p.Ala457=)
|
|
|
|
NM_015599.3(PGM3):c.1374C>T (p.Asp458=)
|
|
|
|
NM_015599.3(PGM3):c.1377G>A (p.Arg459=)
|
|
|
|
NM_015599.3(PGM3):c.137C>G (p.Ala46Gly)
|
rs1261795420
|
|
|
NM_015599.3(PGM3):c.1381G>C (p.Val461Leu)
|
|
|
|
NM_015599.3(PGM3):c.1389C>T (p.Ser463=)
|
|
|
|
NM_015599.3(PGM3):c.1398T>C (p.Asp466=)
|
|
|
|
NM_015599.3(PGM3):c.1405A>C (p.Arg469=)
|
|
|
|
NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)
|
|
|
|
NM_015599.3(PGM3):c.1422C>T (p.Pro474=)
|
rs2128479132
|
|
|
NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter)
|
|
|
|
NM_015599.3(PGM3):c.1435G>C (p.Glu479Gln)
|
|
|
|
NM_015599.3(PGM3):c.1438_1439delinsAA (p.Ala480Lys)
|
rs2128479091
|
|
|
NM_015599.3(PGM3):c.1439C>T (p.Ala480Val)
|
rs775608964
|
|
|
NM_015599.3(PGM3):c.143T>C (p.Leu48Pro)
|
rs2128508906
|
|
|
NM_015599.3(PGM3):c.1448A>G (p.Asp483Gly)
|
rs2128479046
|
|
|
NM_015599.3(PGM3):c.1450C>T (p.Leu484=)
|
|
|
|
NM_015599.3(PGM3):c.1461G>C (p.Lys487Asn)
|
rs2128479028
|
|
|
NM_015599.3(PGM3):c.1473T>C (p.Ser491=)
|
rs1786852929
|
|
|
NM_015599.3(PGM3):c.1474C>A (p.Arg492=)
|
|
|
|
NM_015599.3(PGM3):c.1485C>T (p.Val495=)
|
|
|
|
NM_015599.3(PGM3):c.1500AGA[1] (p.Glu501del)
|
|
|
|
NM_015599.3(PGM3):c.1506T>C (p.Asp502=)
|
|
|
|
NM_015599.3(PGM3):c.1509C>T (p.Val503=)
|
|
|
|
NM_015599.3(PGM3):c.150A>G (p.Ser50=)
|
|
|
|
NM_015599.3(PGM3):c.1512C>T (p.Val504=)
|
|
|
|
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)
|
rs1786845541
|
|
|
NM_015599.3(PGM3):c.1514G>T (p.Arg505Leu)
|
rs772233718
|
|
|
NM_015599.3(PGM3):c.1518A>G (p.Val506=)
|
|
|
|
NM_015599.3(PGM3):c.1527A>G (p.Glu509=)
|
|
|
|
NM_015599.3(PGM3):c.152_153del (p.Lys51fs)
|
|
|
|
NM_015599.3(PGM3):c.1539+16T>G
|
|
|
|
NM_015599.3(PGM3):c.1539+17C>G
|
|
|
|
NM_015599.3(PGM3):c.1539+4A>G
|
|
|
|
NM_015599.3(PGM3):c.1539+6C>G
|
rs1002434518
|
|
|
NM_015599.3(PGM3):c.1540-10T>C
|
|
|
|
NM_015599.3(PGM3):c.1540-16T>C
|
|
|
|
NM_015599.3(PGM3):c.1540-4G>T
|
|
|
|
NM_015599.3(PGM3):c.1544G>A (p.Ser515Asn)
|
|
|
|
NM_015599.3(PGM3):c.1545T>C (p.Ser515=)
|
|
|
|
NM_015599.3(PGM3):c.1548A>G (p.Ala516=)
|
|
|
|
NM_015599.3(PGM3):c.1557T>C (p.Leu519=)
|
|
|
|
NM_015599.3(PGM3):c.1573T>C (p.Leu525=)
|
rs2128473473
|
|
|
NM_015599.3(PGM3):c.1585C>T (p.Gln529Ter)
|
|
|
|
NM_015599.3(PGM3):c.1586A>C (p.Gln529Pro)
|
rs1786554799
|
|
|
NM_015599.3(PGM3):c.1587G>A (p.Gln529=)
|
|
|
|
NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)
|
rs541410808
|
|
|
NM_015599.3(PGM3):c.1594G>A (p.Gly532Arg)
|
|
|
|
NM_015599.3(PGM3):c.15T>C (p.Ala5=)
|
rs760537659
|
|
|
NM_015599.3(PGM3):c.1610G>T (p.Arg537Met)
|
rs1583239543
|
|
|
NM_015599.3(PGM3):c.1614C>G (p.Pro538=)
|
|
|
|
NM_015599.3(PGM3):c.1617A>G (p.Gln539=)
|
|
|
|
NM_015599.3(PGM3):c.161A>C (p.Lys54Thr)
|
rs745501523
|
|
|
NM_015599.3(PGM3):c.1626C>A (p.Phe542Leu)
|
|
|
|
NM_015599.3(PGM3):c.162del (p.Lys54fs)
|
|
|
|
NM_015599.3(PGM3):c.162dup (p.Ser55fs)
|
|
|
|
NM_015599.3(PGM3):c.168T>C (p.Thr56=)
|
|
|
|
NM_015599.3(PGM3):c.168T>G (p.Thr56=)
|
|
|
|
NM_015599.3(PGM3):c.172G>C (p.Gly58Arg)
|
|
|
|
NM_015599.3(PGM3):c.179T>C (p.Met60Thr)
|
|
|
|
NM_015599.3(PGM3):c.181G>T (p.Val61Leu)
|
rs1583298383
|
|
|
NM_015599.3(PGM3):c.183A>G (p.Val61=)
|
|
|
|
NM_015599.3(PGM3):c.189G>A (p.Ala63=)
|
|
|
|
NM_015599.3(PGM3):c.197A>C (p.Asn66Thr)
|
|
|
|
NM_015599.3(PGM3):c.204+19T>C
|
|
|
|
NM_015599.3(PGM3):c.204+7G>C
|
|
|
|
NM_015599.3(PGM3):c.204+8del
|
|
|
|
NM_015599.3(PGM3):c.204+9T>G
|
|
|
|
NM_015599.3(PGM3):c.205-13T>C
|
|
|
|
NM_015599.3(PGM3):c.205-14G>A
|
|
|
|
NM_015599.3(PGM3):c.205-19_205-18insAAAC
|
|
|
|
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=)
|
|
|
|
NM_015599.3(PGM3):c.226del (p.Val76fs)
|
|
|
|
NM_015599.3(PGM3):c.230A>T (p.Asp77Val)
|
rs1788806780
|
|
|
NM_015599.3(PGM3):c.239G>A (p.Gly80Asp)
|
|
|
|
NM_015599.3(PGM3):c.243A>G (p.Glu81=)
|
|
|
|
NM_015599.3(PGM3):c.249G>A (p.Leu83=)
|
|
|
|
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.264G>A (p.Glu88=)
|
|
|
|
NM_015599.3(PGM3):c.273C>T (p.Ala91=)
|
|
|
|
NM_015599.3(PGM3):c.276C>T (p.Thr92=)
|
|
|
|
NM_015599.3(PGM3):c.286A>G (p.Asn96Asp)
|
|
|
|
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)
|
|
|
|
NM_015599.3(PGM3):c.315G>A (p.Val105=)
|
|
|
|
NM_015599.3(PGM3):c.322G>C (p.Asp108His)
|
|
|
|
NM_015599.3(PGM3):c.322_323insGATTG (p.Asp108fs)
|
|
|
|
NM_015599.3(PGM3):c.330C>T (p.Ser110=)
|
|
|
|
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.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.379del (p.Arg127fs)
|
|
|
|
NM_015599.3(PGM3):c.384T>C (p.Asp128=)
|
|
|
|
NM_015599.3(PGM3):c.389+11G>C
|
|
|
|
NM_015599.3(PGM3):c.389+19_389+21delinsTTG
|
|
|
|
NM_015599.3(PGM3):c.389+20G>T
|
rs1788788341
|
|
|
NM_015599.3(PGM3):c.389+6G>A
|
|
|
|
NM_015599.3(PGM3):c.390-17T>C
|
|
|
|
NM_015599.3(PGM3):c.390-8T>C
|
|
|
|
NM_015599.3(PGM3):c.392C>G (p.Pro131Arg)
|
|
|
|
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)
|
|
|
|
NM_015599.3(PGM3):c.409T>C (p.Ser137Pro)
|
|
|
|
NM_015599.3(PGM3):c.411A>T (p.Ser137=)
|
|
|
|
NM_015599.3(PGM3):c.417T>A (p.Ser139=)
|
|
|
|
NM_015599.3(PGM3):c.417T>C (p.Ser139=)
|
|
|
|
NM_015599.3(PGM3):c.420A>G (p.Val140=)
|
|
|
|
NM_015599.3(PGM3):c.421A>G (p.Ile141Val)
|
|
|
|
NM_015599.3(PGM3):c.421dup (p.Ile141fs)
|
rs2128504331
|
|
|
NM_015599.3(PGM3):c.426T>C (p.Asp142=)
|
rs1788634870
|
|
|
NM_015599.3(PGM3):c.42C>T (p.Ala14=)
|
|
|
|
NM_015599.3(PGM3):c.431T>C (p.Val144Ala)
|
|
|
|
NM_015599.3(PGM3):c.436G>T (p.Val146Phe)
|
|
|
|
NM_015599.3(PGM3):c.43_46dup (p.Pro16fs)
|
|
|
|
NM_015599.3(PGM3):c.451T>C (p.Phe151Leu)
|
|
|
|
NM_015599.3(PGM3):c.457+13C>T
|
|
|
|
NM_015599.3(PGM3):c.457+15T>C
|
|
|
|
NM_015599.3(PGM3):c.457+16G>A
|
rs2128504254
|
|
|
NM_015599.3(PGM3):c.457+18G>C
|
|
|
|
NM_015599.3(PGM3):c.457+19T>C
|
|
|
|
NM_015599.3(PGM3):c.457+7A>T
|
|
|
|
NM_015599.3(PGM3):c.458-11T>G
|
|
|
|
NM_015599.3(PGM3):c.458-16T>G
|
|
|
|
NM_015599.3(PGM3):c.458-9C>A
|
|
|
|
NM_015599.3(PGM3):c.458-9C>T
|
|
|
|
NM_015599.3(PGM3):c.45G>A (p.Lys15=)
|
|
|
|
NM_015599.3(PGM3):c.473C>G (p.Thr158Arg)
|
rs760200977
|
|
|
NM_015599.3(PGM3):c.486G>A (p.Leu162=)
|
|
|
|
NM_015599.3(PGM3):c.489C>T (p.His163=)
|
|
|
|
NM_015599.3(PGM3):c.492C>T (p.Tyr164=)
|
|
|
|
NM_015599.3(PGM3):c.493A>T (p.Met165Leu)
|
rs757625553
|
|
|
NM_015599.3(PGM3):c.498G>A (p.Val166=)
|
|
|
|
NM_015599.3(PGM3):c.501T>C (p.Tyr167=)
|
|
|
|
NM_015599.3(PGM3):c.510C>A (p.Asn170Lys)
|
rs2128498553
|
|
|
NM_015599.3(PGM3):c.513G>A (p.Thr171=)
|
|
|
|
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=)
|
|
|
|
NM_015599.3(PGM3):c.525T>C (p.Tyr175=)
|
|
|
|
NM_015599.3(PGM3):c.532G>A (p.Ala178Thr)
|
rs1041974128
|
|
|
NM_015599.3(PGM3):c.544G>A (p.Gly182Ser)
|
|
|
|
NM_015599.3(PGM3):c.558A>T (p.Lys186Asn)
|
|
|
|
NM_015599.3(PGM3):c.563C>G (p.Ser188Cys)
|
|
|
|
NM_015599.3(PGM3):c.563_564del (p.Leu187_Ser188insTer)
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NM_015599.3(PGM3):c.567G>A (p.Lys189=)
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NM_015599.3(PGM3):c.573T>C (p.Phe191=)
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rs2128498476
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NM_015599.3(PGM3):c.581T>C (p.Leu194Pro)
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rs2128498468
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NM_015599.3(PGM3):c.591+10T>C
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NM_015599.3(PGM3):c.591+11T>C
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NM_015599.3(PGM3):c.591+13T>C
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NM_015599.3(PGM3):c.591+19A>G
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rs1308664389
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NM_015599.3(PGM3):c.591+8G>A
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NM_015599.3(PGM3):c.592-11_592-10del
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NM_015599.3(PGM3):c.592-4G>A
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NM_015599.3(PGM3):c.592-5T>C
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NM_015599.3(PGM3):c.592G>A (p.Ala198Thr)
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NM_015599.3(PGM3):c.594T>G (p.Ala198=)
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NM_015599.3(PGM3):c.609T>G (p.Asp203Glu)
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NM_015599.3(PGM3):c.60C>G (p.Ile20Met)
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rs750145657
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NM_015599.3(PGM3):c.616A>C (p.Arg206=)
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NM_015599.3(PGM3):c.620C>G (p.Ser207Ter)
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NM_015599.3(PGM3):c.629T>C (p.Val210Ala)
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rs1395736662
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NM_015599.3(PGM3):c.63T>G (p.Leu21=)
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NM_015599.3(PGM3):c.64C>G (p.Gln22Glu)
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NM_015599.3(PGM3):c.64C>T (p.Gln22Ter)
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NM_015599.3(PGM3):c.654C>T (p.Ala218=)
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NM_015599.3(PGM3):c.660G>A (p.Lys220=)
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NM_015599.3(PGM3):c.66A>G (p.Gln22=)
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NM_015599.3(PGM3):c.680A>G (p.Tyr227Cys)
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NM_015599.3(PGM3):c.681C>T (p.Tyr227=)
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rs1165598375
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NM_015599.3(PGM3):c.696G>A (p.Leu232=)
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NM_015599.3(PGM3):c.708G>A (p.Leu236=)
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NM_015599.3(PGM3):c.720G>A (p.Gly240=)
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NM_015599.3(PGM3):c.745T>C (p.Cys249Arg)
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rs1788195656
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NM_015599.3(PGM3):c.750A>C (p.Gly250=)
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NM_015599.3(PGM3):c.750A>T (p.Gly250=)
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NM_015599.3(PGM3):c.756C>T (p.Asp252=)
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NM_015599.3(PGM3):c.767_777del (p.Ser256fs)
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rs2128497316
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NM_015599.3(PGM3):c.770A>T (p.His257Leu)
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rs369781935
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NM_015599.3(PGM3):c.780T>A (p.Pro260=)
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NM_015599.3(PGM3):c.783A>G (p.Pro261=)
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NM_015599.3(PGM3):c.784C>T (p.Gln262Ter)
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rs1293351659
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NM_015599.3(PGM3):c.787+12T>C
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NM_015599.3(PGM3):c.787+15C>G
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NM_015599.3(PGM3):c.787+17C>G
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rs1788189509
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NM_015599.3(PGM3):c.787+17C>T
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NM_015599.3(PGM3):c.787+20C>T
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rs955457725
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NM_015599.3(PGM3):c.787+3A>G
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NM_015599.3(PGM3):c.787+9T>C
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NM_015599.3(PGM3):c.788-16T>C
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NM_015599.3(PGM3):c.788-2A>G
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rs1788056577
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NM_015599.3(PGM3):c.788-4C>T
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NM_015599.3(PGM3):c.788G>C (p.Gly263Ala)
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rs1199492798
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NM_015599.3(PGM3):c.806A>G (p.Asn269Ser)
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NM_015599.3(PGM3):c.807T>C (p.Asn269=)
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NM_015599.3(PGM3):c.809A>G (p.Glu270Gly)
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NM_015599.3(PGM3):c.816C>A (p.Cys272Ter)
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NM_015599.3(PGM3):c.822T>G (p.Ser274=)
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NM_015599.3(PGM3):c.828T>C (p.Asp276=)
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NM_015599.3(PGM3):c.831A>C (p.Gly277=)
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NM_015599.3(PGM3):c.849T>C (p.Val283=)
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NM_015599.3(PGM3):c.858C>T (p.Tyr286=)
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NM_015599.3(PGM3):c.85C>T (p.Arg29Ter)
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NM_015599.3(PGM3):c.882T>C (p.His294=)
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NM_015599.3(PGM3):c.908del (p.Thr303fs)
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NM_015599.3(PGM3):c.90G>A (p.Thr30=)
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NM_015599.3(PGM3):c.918C>T (p.Ser306=)
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rs2128494940
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NM_015599.3(PGM3):c.927T>G (p.Leu309=)
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NM_015599.3(PGM3):c.930A>G (p.Lys310=)
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NM_015599.3(PGM3):c.936C>T (p.Leu312=)
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NM_015599.3(PGM3):c.939G>T (p.Leu313=)
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NM_015599.3(PGM3):c.945+10G>A
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rs1788040631
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NM_015599.3(PGM3):c.945+12G>A
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NM_015599.3(PGM3):c.945+13G>A
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NM_015599.3(PGM3):c.945+13G>T
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NM_015599.3(PGM3):c.945+13del
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NM_015599.3(PGM3):c.945+8G>C
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NM_015599.3(PGM3):c.945+9G>C
|
rs2128494907
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NM_015599.3(PGM3):c.946-14T>C
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NM_015599.3(PGM3):c.946-20G>C
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NM_015599.3(PGM3):c.946-23_946-19del
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NM_015599.3(PGM3):c.946-4C>T
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rs2128493797
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NM_015599.3(PGM3):c.946-6G>T
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NM_015599.3(PGM3):c.946-7del
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rs758669509
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NM_015599.3(PGM3):c.946-9T>C
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rs2128493807
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NM_015599.3(PGM3):c.94G>C (p.Ala32Pro)
|
rs773608450
|
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NM_015599.3(PGM3):c.970G>A (p.Val324Ile)
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NM_015599.3(PGM3):c.975A>G (p.Val325=)
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rs1462718508
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NM_015599.3(PGM3):c.975A>T (p.Val325=)
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NM_015599.3(PGM3):c.990A>G (p.Ala330=)
|
rs2128493751
|
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NM_015599.3(PGM3):c.999T>C (p.Ser333=)
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NM_015599.3(PGM3):c.99A>G (p.Glu33=)
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NM_015599.3(PGM3):c.9A>G (p.Leu3=)
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