NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)
|
rs140382423
|
0.00022
|
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
|
rs150532554
|
0.00019
|
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)
|
rs371772900
|
0.00019
|
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)
|
rs142871135
|
0.00015
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
NM_033087.4(ALG2):c.217G>C (p.Asp73His)
|
rs375634924
|
0.00014
|
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val)
|
rs948398303
|
0.00012
|
NM_001382.4(DPAGT1):c.496+3A>G
|
rs565154071
|
0.00012
|
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
|
rs1054683823
|
0.00010
|
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)
|
rs1016844949
|
0.00009
|
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)
|
rs369231996
|
0.00009
|
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)
|
rs373454393
|
0.00009
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys)
|
rs536572222
|
0.00008
|
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)
|
rs143625172
|
0.00008
|
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr)
|
rs753866967
|
0.00007
|
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn)
|
rs542516384
|
0.00007
|
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)
|
rs763662395
|
0.00007
|
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys)
|
rs143036820
|
0.00006
|
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
|
rs751590922
|
0.00006
|
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly)
|
rs752153404
|
0.00006
|
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
|
rs754476664
|
0.00006
|
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)
|
rs369670496
|
0.00006
|
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro)
|
rs1279623882
|
0.00006
|
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)
|
rs147346291
|
0.00006
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
|
rs762560638
|
0.00005
|
NM_001382.4(DPAGT1):c.728+6T>C
|
rs373170483
|
0.00004
|
NM_033087.4(ALG2):c.1156A>G (p.Met386Val)
|
rs772649099
|
0.00004
|
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)
|
rs376959842
|
0.00004
|
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)
|
rs761793563
|
0.00004
|
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys)
|
rs1372670324
|
0.00004
|
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
|
rs1156439417
|
0.00004
|
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp)
|
rs780287266
|
0.00004
|
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)
|
rs925393788
|
0.00004
|
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp)
|
rs779427303
|
0.00003
|
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys)
|
rs1329170357
|
0.00003
|
NM_033087.4(ALG2):c.1A>G (p.Met1Val)
|
rs750172644
|
0.00003
|
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp)
|
rs934545988
|
0.00003
|
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp)
|
rs752081241
|
0.00003
|
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
|
rs377047079
|
0.00003
|
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)
|
rs372725563
|
0.00002
|
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val)
|
rs1463544616
|
0.00002
|
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)
|
rs747825322
|
0.00002
|
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)
|
rs764519878
|
0.00002
|
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)
|
rs751806317
|
0.00002
|
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro)
|
rs772211450
|
0.00002
|
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)
|
rs28934876
|
0.00002
|
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
|
rs745872044
|
0.00002
|
NM_001382.4(DPAGT1):c.917+6C>T
|
rs539220035
|
0.00002
|
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)
|
rs780497256
|
0.00002
|
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)
|
rs138258236
|
0.00002
|
NM_033087.4(ALG2):c.1218G>C (p.Gln406His)
|
rs763754023
|
0.00002
|
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu)
|
rs777441526
|
0.00002
|
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)
|
rs776974668
|
0.00002
|
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp)
|
rs376627887
|
0.00002
|
NM_033087.4(ALG2):c.361A>G (p.Ile121Val)
|
rs774204697
|
0.00002
|
NM_033087.4(ALG2):c.752G>A (p.Arg251His)
|
rs201729325
|
0.00002
|
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
|
rs1229029511
|
0.00002
|
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn)
|
rs1285177343
|
0.00001
|
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu)
|
rs1247230551
|
0.00001
|
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser)
|
rs914867145
|
0.00001
|
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys)
|
rs759081713
|
0.00001
|
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser)
|
rs1438504838
|
0.00001
|
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile)
|
rs1279403583
|
0.00001
|
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)
|
rs988021644
|
0.00001
|
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr)
|
rs1308915445
|
0.00001
|
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg)
|
rs772640415
|
0.00001
|
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)
|
rs368208403
|
0.00001
|
NM_001244710.2(GFPT1):c.2055+3A>G
|
rs937857366
|
0.00001
|
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)
|
rs192925673
|
0.00001
|
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)
|
rs755890938
|
0.00001
|
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His)
|
rs987906924
|
0.00001
|
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln)
|
rs1034928233
|
0.00001
|
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu)
|
rs773850508
|
0.00001
|
NM_001244710.2(GFPT1):c.606-3C>T
|
rs1286081479
|
0.00001
|
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)
|
rs1489383761
|
0.00001
|
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys)
|
rs764200601
|
0.00001
|
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)
|
rs376996734
|
0.00001
|
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)
|
rs555841797
|
0.00001
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)
|
rs187919120
|
0.00001
|
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
|
rs779911586
|
0.00001
|
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)
|
rs1272156856
|
0.00001
|
NM_001382.4(DPAGT1):c.161+6C>T
|
rs762402071
|
0.00001
|
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg)
|
rs1041735569
|
0.00001
|
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)
|
rs1234809605
|
0.00001
|
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg)
|
rs759595271
|
0.00001
|
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
|
rs368415403
|
0.00001
|
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
|
rs746187785
|
0.00001
|
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val)
|
rs532412952
|
0.00001
|
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser)
|
rs1229553796
|
0.00001
|
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)
|
rs762796464
|
0.00001
|
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
|
rs1328286236
|
0.00001
|
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg)
|
rs775716973
|
0.00001
|
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=)
|
rs373632825
|
0.00001
|
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp)
|
rs1053302601
|
0.00001
|
NM_001382.4(DPAGT1):c.729-10C>A
|
rs1413156382
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
|
rs376322200
|
0.00001
|
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys)
|
rs776632995
|
0.00001
|
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)
|
rs544811110
|
0.00001
|
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)
|
rs1828726794
|
0.00001
|
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)
|
rs1828725925
|
0.00001
|
NM_033087.4(ALG2):c.107C>T (p.Ala36Val)
|
rs567637718
|
0.00001
|
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)
|
rs754159662
|
0.00001
|
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)
|
rs762887574
|
0.00001
|
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
|
rs963221673
|
0.00001
|
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)
|
rs1475354932
|
0.00001
|
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)
|
rs749613639
|
0.00001
|
NM_033087.4(ALG2):c.168G>A (p.Pro56=)
|
rs1225254115
|
0.00001
|
NM_033087.4(ALG2):c.202G>A (p.Val68Met)
|
rs770103603
|
0.00001
|
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu)
|
rs755705607
|
0.00001
|
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
|
rs941593352
|
0.00001
|
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
|
rs910168958
|
0.00001
|
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro)
|
rs770722154
|
0.00001
|
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla)
|
rs762654045
|
0.00001
|
NM_033087.4(ALG2):c.30del (p.Ser11fs)
|
rs763575022
|
0.00001
|
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
|
rs1025210566
|
0.00001
|
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile)
|
rs752746581
|
0.00001
|
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
|
rs746092484
|
0.00001
|
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp)
|
rs1486842886
|
0.00001
|
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro)
|
rs759789517
|
0.00001
|
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)
|
rs1166295828
|
0.00001
|
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly)
|
rs745514949
|
0.00001
|
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter)
|
rs139547697
|
0.00001
|
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys)
|
rs189167741
|
0.00001
|
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)
|
rs766853240
|
0.00001
|
NM_033087.4(ALG2):c.76G>A (p.Val26Met)
|
rs1280699944
|
0.00001
|
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)
|
rs202053471
|
0.00001
|
NM_033087.4(ALG2):c.947C>T (p.Thr316Met)
|
rs764242401
|
0.00001
|
NC_000002.11:g.(?_69553299)_(69597260_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)dup
|
|
|
NC_000002.11:g.(?_69597123)_(69597250_?)del
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)dup
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)dup
|
|
|
NM_001244710.2(GFPT1):c.*22C>T
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
|
|
|
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
|
|
|
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
|
|
|
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
|
|
|
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln)
|
rs1670968909
|
|
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser)
|
rs1671812593
|
|
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala)
|
rs1553388425
|
|
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly)
|
rs1553388422
|
|
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe)
|
rs1553388418
|
|
NM_001244710.2(GFPT1):c.1204-3C>T
|
rs1307653021
|
|
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val)
|
rs1670858310
|
|
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser)
|
rs2104617186
|
|
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala)
|
rs1287808167
|
|
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
|
|
|
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup)
|
rs1558773904
|
|
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
|
|
|
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
|
|
|
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
|
|
|
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe)
|
rs1670840972
|
|
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
|
|
|
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser)
|
rs1670617199
|
|
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn)
|
rs1553386276
|
|
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp)
|
rs2104600845
|
|
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys)
|
rs1421146245
|
|
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
|
|
|
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
|
|
|
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
|
|
|
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
|
|
|
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln)
|
rs2104595615
|
|
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly)
|
rs1670547736
|
|
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)
|
rs1553385828
|
|
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala)
|
rs772026265
|
|
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val)
|
rs1574039131
|
|
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg)
|
rs2104595457
|
|
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro)
|
rs1670545826
|
|
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe)
|
rs2104595390
|
|
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro)
|
rs1671705543
|
|
NM_001244710.2(GFPT1):c.223+6G>A
|
rs1295165260
|
|
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly)
|
rs1671535131
|
|
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
|
|
|
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
|
|
|
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)
|
rs1553393940
|
|
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)
|
rs929836832
|
|
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)
|
rs886056261
|
|
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)
|
rs1671532532
|
|
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly)
|
rs539052842
|
|
NM_001244710.2(GFPT1):c.350-3T>C
|
|
|
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser)
|
rs1671414273
|
|
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
|
|
|
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
|
|
|
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
|
|
|
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
|
|
|
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly)
|
rs2104655675
|
|
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly)
|
rs2104655632
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)
|
|
|
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)
|
rs370171865
|
|
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
|
|
|
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)
|
rs2104648108
|
|
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu)
|
rs1671287962
|
|
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
|
|
|
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val)
|
rs2104648017
|
|
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
|
|
|
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
|
|
|
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val)
|
rs2104647589
|
|
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp)
|
rs1164347284
|
|
NM_001244710.2(GFPT1):c.740-11A>G
|
rs769311395
|
|
NM_001244710.2(GFPT1):c.740-8T>C
|
rs2104639173
|
|
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly)
|
rs2104639027
|
|
NM_001244710.2(GFPT1):c.845+6C>T
|
rs767647134
|
|
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val)
|
rs372840289
|
|
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala)
|
rs2104635949
|
|
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu)
|
rs1553389515
|
|
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)
|
|
|
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp)
|
rs1671813015
|
|
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)
|
rs1946418638
|
|
NM_001382.4(DPAGT1):c.1005+5C>T
|
|
|
NM_001382.4(DPAGT1):c.1005+6A>T
|
rs1592225596
|
|
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)
|
rs1555207196
|
|
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
|
|
|
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
|
|
|
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)
|
rs1475939080
|
|
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)
|
rs980077282
|
|
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)
|
rs1210999092
|
|
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)
|
rs2134897889
|
|
NM_001382.4(DPAGT1):c.1161+5G>A
|
rs1946410970
|
|
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)
|
rs2134897349
|
|
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)
|
rs2134897273
|
|
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
|
|
|
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)
|
rs2134897091
|
|
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
|
|
|
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
|
|
|
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
|
|
|
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
|
|
|
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
|
|
|
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)
|
rs1565766177
|
|
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)
|
rs1274896616
|
|
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys)
|
rs781224323
|
|
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
|
|
|
NM_001382.4(DPAGT1):c.283-17G>A
|
|
|
NM_001382.4(DPAGT1):c.283-3C>A
|
|
|
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
|
|
|
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
|
|
|
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val)
|
rs1946489072
|
|
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val)
|
rs1946487222
|
|
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu)
|
rs2134913441
|
|
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile)
|
rs1946487020
|
|
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser)
|
rs373044813
|
|
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu)
|
rs1403883479
|
|
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
|
|
|
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
|
|
|
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met)
|
rs1555207796
|
|
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
|
|
|
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln)
|
rs1946485389
|
|
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val)
|
rs766131005
|
|
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
|
|
|
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val)
|
rs2134911057
|
|
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
|
|
|
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu)
|
rs1386440899
|
|
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
|
|
|
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
|
|
|
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)
|
rs1221039307
|
|
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala)
|
rs2134903441
|
|
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
|
|
|
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)
|
rs765676413
|
|
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
|
|
|
NM_001382.4(DPAGT1):c.750G>A (p.Val250=)
|
rs2134901634
|
|
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
|
|
|
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp)
|
rs780944148
|
|
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
|
|
|
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
|
|
|
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe)
|
rs1946426502
|
|
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)
|
rs1393162163
|
|
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His)
|
rs771322037
|
|
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
|
|
|
NM_001382.4(DPAGT1):c.918-10C>A
|
rs764154648
|
|
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)
|
rs1946419999
|
|
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)
|
rs755527720
|
|
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
|
|
|
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
|
|
|
NM_033087.4(ALG2):c.1014G>T (p.Gln338His)
|
rs2118998218
|
|
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)
|
rs2118998170
|
|
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
|
rs1588618702
|
|
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)
|
rs1554707637
|
|
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
|
|
|
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
|
|
|
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)
|
rs1828724423
|
|
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)
|
rs1340353164
|
|
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)
|
rs2118997596
|
|
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
|
|
|
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)
|
rs372356780
|
|
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
|
|
|
NM_033087.4(ALG2):c.132del (p.Cys45fs)
|
|
|
NM_033087.4(ALG2):c.145A>G (p.Ile49Val)
|
rs759980920
|
|
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
|
|
|
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter)
|
rs748281785
|
|
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)
|
rs773062290
|
|
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
|
|
|
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)
|
rs753517894
|
|
NM_033087.4(ALG2):c.17G>T (p.Gly6Val)
|
rs180849348
|
|
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu)
|
rs777441526
|
|
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
|
rs1588620643
|
|
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)
|
rs551744220
|
|
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
|
rs551744220
|
|
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg)
|
rs745813432
|
|
NM_033087.4(ALG2):c.215G>T (p.Gly72Val)
|
rs770738799
|
|
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr)
|
rs375634924
|
|
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
|
|
|
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro)
|
rs1564222174
|
|
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
|
|
|
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup)
|
rs1050763044
|
|
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup)
|
rs759891618
|
|
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
|
|
|
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
|
|
|
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn)
|
rs769169852
|
|
NM_033087.4(ALG2):c.308del (p.Phe103fs)
|
|
|
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
|
rs747781559
|
|
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
|
|
|
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
|
|
|
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu)
|
rs2119008980
|
|
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
|
|
|
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg)
|
rs2119007195
|
|
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
|
|
|
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
|
|
|
NM_033087.4(ALG2):c.367G>A (p.Val123Met)
|
rs1828745406
|
|
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
|
|
|
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
|
|
|
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
|
|
|
NM_033087.4(ALG2):c.442_443del (p.Asp148fs)
|
rs1828743411
|
|
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
|
rs1350412580
|
|
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln)
|
rs757920586
|
|
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
|
|
|
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp)
|
rs1486842886
|
|
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala)
|
rs1588619067
|
|
NM_033087.4(ALG2):c.507G>A (p.Met169Ile)
|
rs779723777
|
|
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter)
|
rs1828741342
|
|
NM_033087.4(ALG2):c.519C>G (p.Ile173Met)
|
rs1372608210
|
|
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
|
|
|
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
|
|
|
NM_033087.4(ALG2):c.578A>G (p.His193Arg)
|
rs749336918
|
|
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
|
|
|
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser)
|
rs201271253
|
|
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
|
|
|
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer)
|
rs745635377
|
|
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile)
|
rs1828737709
|
|
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
|
rs866855594
|
|
NM_033087.4(ALG2):c.679C>A (p.Leu227Met)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.679C>G (p.Leu227Val)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.686T>A (p.Leu229His)
|
rs1828737491
|
|
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
|
|
|
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)
|
rs777262456
|
|
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
|
|
|
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
|
|
|
NM_033087.4(ALG2):c.760T>G (p.Leu254Val)
|
rs62562374
|
|
NM_033087.4(ALG2):c.795C>G (p.Ile265Met)
|
rs183416022
|
|
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
|
|
|
NM_033087.4(ALG2):c.839A>G (p.His280Arg)
|
rs2118998777
|
|
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
|
|
|
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)
|
rs775204090
|
|
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
|
|
|
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
|
|
|
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
|
|
|
NM_033087.4(ALG2):c.945C>T (p.Cys315=)
|
rs1828729293
|
|
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
|
|
|
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)
|
rs1828728819
|
|
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)
|
rs2118998416
|
|
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
|
|
|
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
|
|
|
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
|
|
|
NM_033087.4(ALG2):c.97G>A (p.Val33Met)
|
rs774607653
|
|
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
|
|
|