NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)
|
rs147412842
|
0.00081
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
NM_024105.4(ALG12):c.319G>A (p.Val107Met)
|
rs147784926
|
0.00066
|
NM_005216.5(DDOST):c.508G>A (p.Val170Ile)
|
rs111334879
|
0.00063
|
NM_024105.4(ALG12):c.652A>G (p.Ile218Val)
|
rs146322225
|
0.00061
|
NM_024105.4(ALG12):c.469+5G>A
|
rs375025860
|
0.00058
|
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_005216.5(DDOST):c.596C>T (p.Thr199Met)
|
rs142593688
|
0.00051
|
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp)
|
rs140409217
|
0.00050
|
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)
|
rs2233469
|
0.00049
|
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)
|
rs147641581
|
0.00047
|
NM_005216.5(DDOST):c.712G>A (p.Val238Ile)
|
rs150551993
|
0.00046
|
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys)
|
rs143232904
|
0.00046
|
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)
|
rs140035988
|
0.00045
|
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)
|
rs115524395
|
0.00044
|
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)
|
rs139686892
|
0.00044
|
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser)
|
rs764755742
|
0.00042
|
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)
|
rs17856033
|
0.00041
|
NM_024105.4(ALG12):c.242C>T (p.Ala81Val)
|
rs142586266
|
0.00041
|
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)
|
rs144040842
|
0.00039
|
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met)
|
rs147740901
|
0.00039
|
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
|
rs146171115
|
0.00039
|
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp)
|
rs141814567
|
0.00038
|
NM_024105.4(ALG12):c.1425G>C (p.Gln475His)
|
rs147000290
|
0.00036
|
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly)
|
rs147804856
|
0.00034
|
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met)
|
rs141320993
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)
|
rs149700024
|
0.00033
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_153741.2(DPM3):c.55G>T (p.Val19Leu)
|
rs141877691
|
0.00032
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp)
|
rs759843220
|
0.00031
|
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln)
|
rs141310219
|
0.00030
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)
|
rs761121795
|
0.00029
|
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val)
|
rs182350911
|
0.00026
|
NM_005216.5(DDOST):c.509T>C (p.Val170Ala)
|
rs146767054
|
0.00026
|
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)
|
rs144499089
|
0.00026
|
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)
|
rs200946042
|
0.00026
|
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)
|
rs929270819
|
0.00025
|
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val)
|
rs138584071
|
0.00025
|
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)
|
rs139208333
|
0.00024
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)
|
rs200068321
|
0.00023
|
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)
|
rs752831768
|
0.00022
|
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)
|
rs140382423
|
0.00022
|
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)
|
rs202195109
|
0.00021
|
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu)
|
rs557867164
|
0.00020
|
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)
|
rs150101415
|
0.00019
|
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
|
rs150532554
|
0.00019
|
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
|
rs201815588
|
0.00019
|
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)
|
rs532258057
|
0.00019
|
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg)
|
rs141068538
|
0.00019
|
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser)
|
rs142027212
|
0.00019
|
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)
|
rs371772900
|
0.00019
|
NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn)
|
rs201230044
|
0.00019
|
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser)
|
rs367689770
|
0.00018
|
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)
|
rs142016662
|
0.00018
|
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)
|
rs748537273
|
0.00017
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)
|
rs146262101
|
0.00016
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
0.00016
|
NM_024105.4(ALG12):c.1057G>A (p.Val353Met)
|
rs374327138
|
0.00016
|
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr)
|
rs147263320
|
0.00015
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
NM_052859.4(RFT1):c.1101C>T (p.Ser367=)
|
rs139445704
|
0.00015
|
NM_002633.3(PGM1):c.529T>G (p.Leu177Val)
|
rs112293909
|
0.00014
|
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser)
|
rs199782279
|
0.00014
|
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)
|
rs763991801
|
0.00014
|
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val)
|
rs144209926
|
0.00014
|
NM_033087.4(ALG2):c.217G>C (p.Asp73His)
|
rs375634924
|
0.00014
|
NM_052859.4(RFT1):c.1049A>G (p.Tyr350Cys)
|
rs148627975
|
0.00014
|
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys)
|
rs367783946
|
0.00013
|
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln)
|
rs370265239
|
0.00013
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr)
|
rs146354877
|
0.00013
|
NM_138459.5(NUS1):c.805C>T (p.His269Tyr)
|
rs1038995750
|
0.00013
|
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)
|
rs1008042824
|
0.00013
|
NM_000303.3(PMM2):c.149A>T (p.Glu50Val)
|
rs182336960
|
0.00012
|
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)
|
rs201560109
|
0.00012
|
NM_001382.4(DPAGT1):c.496+3A>G
|
rs565154071
|
0.00012
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met)
|
rs138890428
|
0.00012
|
NM_019109.5(ALG1):c.812C>T (p.Thr271Met)
|
rs368722637
|
0.00012
|
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn)
|
rs780103981
|
0.00011
|
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys)
|
rs200463200
|
0.00011
|
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp)
|
rs562509297
|
0.00011
|
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)
|
rs569498428
|
0.00011
|
NM_019109.5(ALG1):c.284C>T (p.Ala95Val)
|
rs368284764
|
0.00011
|
NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met)
|
rs142711275
|
0.00011
|
NM_000303.3(PMM2):c.66+5G>A
|
rs375808631
|
0.00010
|
NM_002435.3(MPI):c.662C>G (p.Ser221Cys)
|
rs760911969
|
0.00010
|
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)
|
rs752306671
|
0.00010
|
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser)
|
rs139521934
|
0.00010
|
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)
|
rs201354339
|
0.00010
|
NM_014908.4(DOLK):c.379G>A (p.Val127Met)
|
rs752310792
|
0.00010
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
NM_024105.4(ALG12):c.1158G>C (p.Gln386His)
|
rs372390738
|
0.00010
|
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
|
rs1054683823
|
0.00010
|
NM_052859.4(RFT1):c.110G>A (p.Arg37His)
|
rs139153173
|
0.00010
|
NM_052859.4(RFT1):c.884C>T (p.Pro295Leu)
|
rs770676975
|
0.00010
|
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser)
|
rs1208820400
|
0.00009
|
NM_001099922.3(ALG13):c.1741A>G (p.Met581Val)
|
rs373053138
|
0.00009
|
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala)
|
rs746099604
|
0.00009
|
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)
|
rs1016844949
|
0.00009
|
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)
|
rs200452019
|
0.00009
|
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
|
rs150286818
|
0.00009
|
NM_005216.5(DDOST):c.265+6G>C
|
rs372328091
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)
|
rs201271558
|
0.00009
|
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)
|
rs758214692
|
0.00009
|
NM_019109.5(ALG1):c.815G>A (p.Arg272His)
|
rs560302928
|
0.00009
|
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val)
|
rs772459313
|
0.00009
|
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile)
|
rs777096831
|
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_052859.4(RFT1):c.267-3T>C
|
rs778876601
|
0.00009
|
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser)
|
rs1052237
|
0.00009
|
NM_001099922.3(ALG13):c.1841G>C (p.Arg614Thr)
|
rs752779777
|
0.00008
|
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala)
|
rs750856311
|
0.00008
|
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn)
|
rs776145598
|
0.00008
|
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile)
|
rs200661626
|
0.00008
|
NM_019109.5(ALG1):c.457G>A (p.Val153Ile)
|
rs750216032
|
0.00008
|
NM_024740.2(ALG9):c.129C>T (p.Thr43=)
|
rs1311317470
|
0.00008
|
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)
|
rs143625172
|
0.00008
|
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val)
|
rs763302334
|
0.00008
|
NM_052859.4(RFT1):c.533G>A (p.Gly178Glu)
|
rs373067263
|
0.00008
|
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser)
|
rs773666398
|
0.00007
|
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)
|
rs915629293
|
0.00007
|
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn)
|
rs542516384
|
0.00007
|
NM_003859.3(DPM1):c.261T>A (p.Ile87=)
|
rs774440510
|
0.00007
|
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)
|
rs559946698
|
0.00007
|
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile)
|
rs375976807
|
0.00007
|
NM_005787.6(ALG3):c.248A>G (p.Asn83Ser)
|
rs199565095
|
0.00007
|
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys)
|
rs778381327
|
0.00007
|
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val)
|
rs145152115
|
0.00007
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
0.00007
|
NM_019109.5(ALG1):c.37C>G (p.Leu13Val)
|
rs758104063
|
0.00007
|
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg)
|
rs145851409
|
0.00007
|
NM_024079.5(ALG8):c.1349+5T>C
|
rs886048685
|
0.00007
|
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr)
|
rs773892105
|
0.00007
|
NM_024105.4(ALG12):c.385A>G (p.Met129Val)
|
rs200068410
|
0.00007
|
NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile)
|
rs151267741
|
0.00007
|
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)
|
rs763662395
|
0.00007
|
NM_052859.4(RFT1):c.964G>A (p.Val322Ile)
|
rs143888206
|
0.00007
|
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser)
|
rs779673665
|
0.00007
|
NM_000303.3(PMM2):c.256-13T>G
|
rs62031145
|
0.00006
|
NM_000303.3(PMM2):c.426T>G (p.Ile142Met)
|
rs781610241
|
0.00006
|
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys)
|
rs142420230
|
0.00006
|
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln)
|
rs138383066
|
0.00006
|
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)
|
rs144883776
|
0.00006
|
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp)
|
rs778396216
|
0.00006
|
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
|
rs751590922
|
0.00006
|
NM_002435.3(MPI):c.61A>G (p.Met21Val)
|
rs376746368
|
0.00006
|
NM_002633.3(PGM1):c.975G>T (p.Gln325His)
|
rs574355735
|
0.00006
|
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly)
|
rs148674319
|
0.00006
|
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser)
|
rs773982629
|
0.00006
|
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys)
|
rs1038330038
|
0.00006
|
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys)
|
rs369105590
|
0.00006
|
NM_005787.6(ALG3):c.13C>G (p.Leu5Val)
|
rs369888932
|
0.00006
|
NM_005787.6(ALG3):c.578G>A (p.Arg193His)
|
rs550144109
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)
|
rs768141782
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)
|
rs199698721
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)
|
rs758922111
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)
|
rs762614200
|
0.00006
|
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)
|
rs151277583
|
0.00006
|
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)
|
rs376087919
|
0.00006
|
NM_014908.4(DOLK):c.1139G>A (p.Arg380His)
|
rs553112177
|
0.00006
|
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter)
|
rs1366267146
|
0.00006
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
NM_014908.4(DOLK):c.344C>T (p.Ala115Val)
|
rs146804211
|
0.00006
|
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)
|
rs766759178
|
0.00006
|
NM_019109.5(ALG1):c.20T>G (p.Val7Gly)
|
rs780711908
|
0.00006
|
NM_019109.5(ALG1):c.335T>C (p.Met112Thr)
|
rs150943251
|
0.00006
|
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe)
|
rs755804171
|
0.00006
|
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu)
|
rs570334955
|
0.00006
|
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln)
|
rs763925138
|
0.00006
|
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)
|
rs201717237
|
0.00006
|
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln)
|
rs148062469
|
0.00006
|
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln)
|
rs938305311
|
0.00006
|
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr)
|
rs770434145
|
0.00006
|
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr)
|
rs761571791
|
0.00006
|
NM_024105.4(ALG12):c.58G>A (p.Val20Ile)
|
rs140468943
|
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_052859.4(RFT1):c.1117C>T (p.Arg373Cys)
|
rs375524916
|
0.00006
|
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys)
|
rs138803905
|
0.00006
|
NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser)
|
rs549199208
|
0.00006
|
NM_138459.5(NUS1):c.246C>G (p.His82Gln)
|
rs1023259853
|
0.00006
|
NM_153741.2(DPM3):c.248C>T (p.Ala83Val)
|
rs777586354
|
0.00006
|
NM_000303.3(PMM2):c.*26C>T
|
rs138528126
|
0.00005
|
NM_000303.3(PMM2):c.524-5G>A
|
rs373584132
|
0.00005
|
NM_000303.3(PMM2):c.586G>A (p.Val196Met)
|
rs547216044
|
0.00005
|
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His)
|
rs1195010293
|
0.00005
|
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His)
|
rs1441099792
|
0.00005
|
NM_001099922.3(ALG13):c.2529+6C>G
|
rs1569520797
|
0.00005
|
NM_001099922.3(ALG13):c.2800C>T (p.Pro934Ser)
|
rs766833930
|
0.00005
|
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn)
|
rs750257151
|
0.00005
|
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)
|
rs775191661
|
0.00005
|
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser)
|
rs1026866240
|
0.00005
|
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)
|
rs749229743
|
0.00005
|
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln)
|
rs199535796
|
0.00005
|
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)
|
rs201984428
|
0.00005
|
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
|
rs754150966
|
0.00005
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)
|
rs749270254
|
0.00005
|
NM_019109.5(ALG1):c.764C>T (p.Thr255Met)
|
rs143906919
|
0.00005
|
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys)
|
rs374858734
|
0.00005
|
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp)
|
rs772004305
|
0.00005
|
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp)
|
rs567368110
|
0.00005
|
NM_024105.4(ALG12):c.469+4C>T
|
rs555319649
|
0.00005
|
NM_024105.4(ALG12):c.617T>A (p.Val206Glu)
|
rs150664343
|
0.00005
|
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
|
rs762560638
|
0.00005
|
NM_052859.4(RFT1):c.1590G>C (p.Gln530His)
|
rs1701001105
|
0.00005
|
NM_052859.4(RFT1):c.280G>A (p.Val94Met)
|
rs151030461
|
0.00005
|
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe)
|
rs896791770
|
0.00005
|
NM_000303.3(PMM2):c.447+4C>T
|
rs537238935
|
0.00004
|
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln)
|
rs371629121
|
0.00004
|
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg)
|
rs746897177
|
0.00004
|
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser)
|
rs765666509
|
0.00004
|
NM_001099922.3(ALG13):c.3085G>A (p.Val1029Ile)
|
rs368393741
|
0.00004
|
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr)
|
rs1064796719
|
0.00004
|
NM_001099922.3(ALG13):c.350A>T (p.His117Leu)
|
rs754497897
|
0.00004
|
NM_001382.4(DPAGT1):c.728+6T>C
|
rs373170483
|
0.00004
|
NM_002435.3(MPI):c.1175G>A (p.Arg392His)
|
rs762164813
|
0.00004
|
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val)
|
rs751121095
|
0.00004
|
NM_002633.3(PGM1):c.1160G>A (p.Arg387His)
|
rs548040301
|
0.00004
|
NM_002633.3(PGM1):c.1355G>A (p.Arg452His)
|
rs147763516
|
0.00004
|
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)
|
rs1287963513
|
0.00004
|
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln)
|
rs188291855
|
0.00004
|
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)
|
rs200237046
|
0.00004
|
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)
|
rs146935617
|
0.00004
|
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)
|
rs373944766
|
0.00004
|
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln)
|
rs754001081
|
0.00004
|
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)
|
rs376257244
|
0.00004
|
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr)
|
rs200909635
|
0.00004
|
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg)
|
rs775877177
|
0.00004
|
NM_005216.5(DDOST):c.627G>A (p.Pro209=)
|
rs772970010
|
0.00004
|
NM_005216.5(DDOST):c.710G>A (p.Arg237His)
|
rs774094300
|
0.00004
|
NM_005216.5(DDOST):c.955G>A (p.Val319Met)
|
rs921210147
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)
|
rs371908109
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His)
|
rs761913726
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val)
|
rs766224435
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)
|
rs941238473
|
0.00004
|
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)
|
rs752689489
|
0.00004
|
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)
|
rs142935490
|
0.00004
|
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)
|
rs201247720
|
0.00004
|
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)
|
rs368086400
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_013339.4(ALG6):c.916T>G (p.Phe306Val)
|
rs769417698
|
0.00004
|
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser)
|
rs1267588037
|
0.00004
|
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp)
|
rs758129067
|
0.00004
|
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly)
|
rs778808864
|
0.00004
|
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
|
rs189623590
|
0.00004
|
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
|
rs774524497
|
0.00004
|
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
|
rs779503646
|
0.00004
|
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr)
|
rs138275657
|
0.00004
|
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn)
|
rs200353530
|
0.00004
|
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)
|
rs397839861
|
0.00004
|
NM_019109.5(ALG1):c.539+3G>C
|
rs1040920105
|
0.00004
|
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala)
|
rs1011307139
|
0.00004
|
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg)
|
rs1373315673
|
0.00004
|
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)
|
rs774593969
|
0.00004
|
NM_019109.5(ALG1):c.919C>G (p.Leu307Val)
|
rs368735974
|
0.00004
|
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser)
|
rs758154434
|
0.00004
|
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val)
|
rs374812633
|
0.00004
|
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln)
|
rs553349150
|
0.00004
|
NM_024105.4(ALG12):c.479C>T (p.Ala160Val)
|
rs762826904
|
0.00004
|
NM_024105.4(ALG12):c.809G>A (p.Arg270His)
|
rs781707642
|
0.00004
|
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser)
|
rs751915470
|
0.00004
|
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe)
|
rs375631589
|
0.00004
|
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)
|
rs772795484
|
0.00004
|
NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser)
|
rs770085775
|
0.00004
|
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile)
|
rs1377024435
|
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_052859.4(RFT1):c.1018G>A (p.Gly340Ser)
|
rs568474177
|
0.00004
|
NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser)
|
rs111924005
|
0.00004
|
NM_052859.4(RFT1):c.1598T>C (p.Val533Ala)
|
rs747610673
|
0.00004
|
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr)
|
rs1045604063
|
0.00004
|
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr)
|
rs778766264
|
0.00004
|
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val)
|
rs201067230
|
0.00003
|
NM_001099922.3(ALG13):c.1958G>A (p.Arg653Gln)
|
rs779911093
|
0.00003
|
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser)
|
rs972892187
|
0.00003
|
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)
|
rs200065327
|
0.00003
|
NM_002633.3(PGM1):c.138C>A (p.Thr46=)
|
rs767357022
|
0.00003
|
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)
|
rs781551165
|
0.00003
|
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)
|
rs1324570980
|
0.00003
|
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys)
|
rs779093563
|
0.00003
|
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)
|
rs74526704
|
0.00003
|
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr)
|
rs770095687
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)
|
rs781305219
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=)
|
rs147411055
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)
|
rs372416067
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)
|
rs774594773
|
0.00003
|
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val)
|
rs199633614
|
0.00003
|
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)
|
rs747354658
|
0.00003
|
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys)
|
rs759593402
|
0.00003
|
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)
|
rs774118423
|
0.00003
|
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu)
|
rs772170459
|
0.00003
|
NM_013339.4(ALG6):c.430-3C>T
|
rs549094888
|
0.00003
|
NM_013339.4(ALG6):c.881G>A (p.Arg294His)
|
rs772248256
|
0.00003
|
NM_013339.4(ALG6):c.942A>G (p.Ile314Met)
|
rs774489558
|
0.00003
|
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
|
rs762835635
|
0.00003
|
NM_014908.4(DOLK):c.1130G>A (p.Arg377His)
|
rs374317240
|
0.00003
|
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)
|
rs145125254
|
0.00003
|
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met)
|
rs866088033
|
0.00003
|
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn)
|
rs771259120
|
0.00003
|
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala)
|
rs933514904
|
0.00003
|
NM_019109.5(ALG1):c.29C>T (p.Ala10Val)
|
rs767455250
|
0.00003
|
NM_019109.5(ALG1):c.560G>A (p.Arg187His)
|
rs377600706
|
0.00003
|
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro)
|
rs777949225
|
0.00003
|
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly)
|
rs776908571
|
0.00003
|
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu)
|
rs767003110
|
0.00003
|
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)
|
rs776299417
|
0.00003
|
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg)
|
rs142815771
|
0.00003
|
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp)
|
rs745477655
|
0.00003
|
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln)
|
rs778413165
|
0.00003
|
NM_024105.4(ALG12):c.401C>T (p.Thr134Met)
|
rs201405631
|
0.00003
|
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp)
|
rs375139092
|
0.00003
|
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys)
|
rs754565538
|
0.00003
|
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln)
|
rs746493927
|
0.00003
|
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg)
|
rs767435558
|
0.00003
|
NM_024105.4(ALG12):c.869C>T (p.Ala290Val)
|
rs201508940
|
0.00003
|
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser)
|
rs199937362
|
0.00003
|
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys)
|
rs746215829
|
0.00003
|
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)
|
rs764835755
|
0.00003
|
NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser)
|
rs374807694
|
0.00003
|
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)
|
rs782084496
|
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_052859.4(RFT1):c.1075G>A (p.Gly359Arg)
|
rs201876415
|
0.00003
|
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu)
|
rs886058728
|
0.00003
|
NM_052859.4(RFT1):c.1285G>A (p.Val429Met)
|
rs145175244
|
0.00003
|
NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp)
|
rs146610276
|
0.00003
|
NM_052859.4(RFT1):c.200G>A (p.Arg67His)
|
rs753527390
|
0.00003
|
NM_052859.4(RFT1):c.590A>G (p.Tyr197Cys)
|
rs781527440
|
0.00003
|
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)
|
rs766042717
|
0.00003
|
NM_138459.5(NUS1):c.445A>G (p.Met149Val)
|
rs1276753307
|
0.00003
|
NM_000303.3(PMM2):c.154G>C (p.Val52Leu)
|
rs148608841
|
0.00002
|
NM_000303.3(PMM2):c.447+5G>A
|
rs367852554
|
0.00002
|
NM_000303.3(PMM2):c.680T>C (p.Met227Thr)
|
rs772410793
|
0.00002
|
NM_000303.3(PMM2):c.69A>G (p.Lys23=)
|
rs1189907173
|
0.00002
|
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)
|
rs748117240
|
0.00002
|
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys)
|
rs1272022379
|
0.00002
|
NM_001099922.3(ALG13):c.1397G>A (p.Arg466His)
|
rs371858098
|
0.00002
|
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)
|
rs760560180
|
0.00002
|
NM_001099922.3(ALG13):c.148C>T (p.Pro50Ser)
|
rs1461394942
|
0.00002
|
NM_001099922.3(ALG13):c.1664A>G (p.Asn555Ser)
|
rs1198802633
|
0.00002
|
NM_001099922.3(ALG13):c.1670T>C (p.Met557Thr)
|
rs1255485671
|
0.00002
|
NM_001099922.3(ALG13):c.1804A>G (p.Met602Val)
|
rs370151362
|
0.00002
|
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr)
|
rs1194966893
|
0.00002
|
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe)
|
rs919912146
|
0.00002
|
NM_001099922.3(ALG13):c.207A>C (p.Glu69Asp)
|
rs745826764
|
0.00002
|
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys)
|
rs1376010208
|
0.00002
|
NM_001099922.3(ALG13):c.2194A>G (p.Ile732Val)
|
rs1278669534
|
0.00002
|
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His)
|
rs750005344
|
0.00002
|
NM_001099922.3(ALG13):c.2529+3A>G
|
rs1943111596
|
0.00002
|
NM_001099922.3(ALG13):c.2726C>A (p.Ser909Tyr)
|
rs377097716
|
0.00002
|
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe)
|
rs758632567
|
0.00002
|
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg)
|
rs753692221
|
0.00002
|
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His)
|
rs1264248744
|
0.00002
|
NM_001099922.3(ALG13):c.532A>G (p.Thr178Ala)
|
rs754377859
|
0.00002
|
NM_001099922.3(ALG13):c.680G>A (p.Gly227Asp)
|
rs760283484
|
0.00002
|
NM_001099922.3(ALG13):c.834+3A>G
|
rs370066652
|
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_002435.3(MPI):c.1064C>T (p.Ser355Phe)
|
rs763169640
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_002633.3(PGM1):c.254G>A (p.Arg85His)
|
rs200225686
|
0.00002
|
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn)
|
rs139241922
|
0.00002
|
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser)
|
rs369939483
|
0.00002
|
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)
|
rs938379512
|
0.00002
|
NM_003863.4(DPM2):c.3+6A>G
|
rs776375979
|
0.00002
|
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe)
|
rs150936849
|
0.00002
|
NM_005216.5(DDOST):c.619T>G (p.Phe207Val)
|
rs145758022
|
0.00002
|
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys)
|
rs370299179
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys)
|
rs763022700
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)
|
rs144946016
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)
|
rs754014350
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)
|
rs774276857
|
0.00002
|
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu)
|
rs772179448
|
0.00002
|
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys)
|
rs368924297
|
0.00002
|
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val)
|
rs1259683238
|
0.00002
|
NM_013339.4(ALG6):c.347-13C>G
|
rs981893296
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_013339.4(ALG6):c.681-5T>C
|
rs778405436
|
0.00002
|
NM_013339.4(ALG6):c.727G>A (p.Val243Ile)
|
rs367674567
|
0.00002
|
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)
|
rs756608021
|
0.00002
|
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)
|
rs770413804
|
0.00002
|
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
|
rs769241947
|
0.00002
|
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr)
|
rs1588262062
|
0.00002
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
|
rs372057636
|
0.00002
|
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys)
|
rs41305507
|
0.00002
|
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
|
rs761013512
|
0.00002
|
NM_014908.4(DOLK):c.429C>G (p.Ile143Met)
|
rs1261719011
|
0.00002
|
NM_014908.4(DOLK):c.572C>A (p.Pro191His)
|
rs767965852
|
0.00002
|
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
|
rs373587710
|
0.00002
|
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
|
rs373115419
|
0.00002
|
NM_019109.5(ALG1):c.1001A>G (p.His334Arg)
|
rs756058300
|
0.00002
|
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val)
|
rs765238558
|
0.00002
|
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)
|
rs764363207
|
0.00002
|
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr)
|
rs765599429
|
0.00002
|
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln)
|
rs3204229
|
0.00002
|
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala)
|
rs763309062
|
0.00002
|
NM_019109.5(ALG1):c.430G>A (p.Val144Met)
|
rs770392954
|
0.00002
|
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly)
|
rs759264819
|
0.00002
|
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys)
|
rs201867255
|
0.00002
|
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser)
|
rs549071467
|
0.00002
|
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe)
|
rs761452986
|
0.00002
|
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe)
|
rs569218235
|
0.00002
|
NM_024079.5(ALG8):c.897C>T (p.Ile299=)
|
rs886048686
|
0.00002
|
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys)
|
rs148798409
|
0.00002
|
NM_024105.4(ALG12):c.1183G>A (p.Val395Met)
|
rs759024738
|
0.00002
|
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr)
|
rs755033821
|
0.00002
|
NM_024105.4(ALG12):c.1363G>A (p.Val455Met)
|
rs367671008
|
0.00002
|
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn)
|
rs201033281
|
0.00002
|
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)
|
rs748460466
|
0.00002
|
NM_024105.4(ALG12):c.470-3C>T
|
rs751546611
|
0.00002
|
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr)
|
rs952664215
|
0.00002
|
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu)
|
rs149109851
|
0.00002
|
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser)
|
rs748408459
|
0.00002
|
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg)
|
rs781991188
|
0.00002
|
NM_024740.2(ALG9):c.388A>G (p.Ile130Val)
|
rs782298472
|
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_052859.4(RFT1):c.1102+5G>A
|
rs947230997
|
0.00002
|
NM_052859.4(RFT1):c.1187T>C (p.Met396Thr)
|
rs759448727
|
0.00002
|
NM_052859.4(RFT1):c.1286T>C (p.Val429Ala)
|
rs748400773
|
0.00002
|
NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys)
|
rs754157422
|
0.00002
|
NM_052859.4(RFT1):c.1607G>A (p.Arg536His)
|
rs781398694
|
0.00002
|
NM_052859.4(RFT1):c.182T>C (p.Leu61Pro)
|
rs758269687
|
0.00002
|
NM_052859.4(RFT1):c.22G>T (p.Gly8Cys)
|
rs993455093
|
0.00002
|
NM_052859.4(RFT1):c.511G>A (p.Val171Met)
|
rs561602179
|
0.00002
|
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe)
|
rs745687063
|
0.00002
|
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser)
|
rs1433668009
|
0.00002
|
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg)
|
rs771454891
|
0.00002
|
NM_138459.5(NUS1):c.674C>T (p.Thr225Met)
|
rs760187558
|
0.00002
|
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)
|
rs774553541
|
0.00002
|
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)
|
rs773427971
|
0.00002
|
NM_000303.3(PMM2):c.127G>C (p.Val43Leu)
|
rs376754460
|
0.00001
|
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)
|
rs773813007
|
0.00001
|
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser)
|
rs375826588
|
0.00001
|
NM_000303.3(PMM2):c.255+5G>T
|
rs370480677
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
|
rs1215262242
|
0.00001
|
NM_000303.3(PMM2):c.334C>G (p.Leu112Val)
|
rs757323701
|
0.00001
|
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys)
|
rs1159211374
|
0.00001
|
NM_000303.3(PMM2):c.523+3A>G
|
rs774107741
|
0.00001
|
NM_000303.3(PMM2):c.531G>C (p.Gln177His)
|
rs771162235
|
0.00001
|
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
|
rs774532663
|
0.00001
|
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg)
|
rs781346472
|
0.00001
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
NM_000303.3(PMM2):c.595G>C (p.Asp199His)
|
rs1281138749
|
0.00001
|
NM_000303.3(PMM2):c.645C>T (p.Gly215=)
|
rs765599626
|
0.00001
|
NM_000303.3(PMM2):c.652C>A (p.His218Asn)
|
rs398123310
|
0.00001
|
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg)
|
rs756365610
|
0.00001
|
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala)
|
rs765431074
|
0.00001
|
NM_001099922.3(ALG13):c.10G>A (p.Val4Met)
|
rs1245567722
|
0.00001
|
NM_001099922.3(ALG13):c.1305T>G (p.Asn435Lys)
|
rs1160640023
|
0.00001
|
NM_001099922.3(ALG13):c.1603C>T (p.His535Tyr)
|
rs1941811361
|
0.00001
|
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)
|
rs1234385710
|
0.00001
|
NM_001099922.3(ALG13):c.1630C>T (p.Pro544Ser)
|
rs1941811792
|
0.00001
|
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala)
|
rs1238751751
|
0.00001
|
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu)
|
rs1364102879
|
0.00001
|
NM_001099922.3(ALG13):c.1694A>G (p.Tyr565Cys)
|
rs1159974001
|
0.00001
|
NM_001099922.3(ALG13):c.1730-3A>T
|
rs1318967967
|
0.00001
|
NM_001099922.3(ALG13):c.1733T>C (p.Ile578Thr)
|
rs780580927
|
0.00001
|
NM_001099922.3(ALG13):c.1772A>G (p.Lys591Arg)
|
rs369838463
|
0.00001
|
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr)
|
rs774331771
|
0.00001
|
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys)
|
rs764031698
|
0.00001
|
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys)
|
rs1470650822
|
0.00001
|
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys)
|
rs767153325
|
0.00001
|
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser)
|
rs775045681
|
0.00001
|
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg)
|
rs756114101
|
0.00001
|
NM_001099922.3(ALG13):c.2351A>G (p.Asn784Ser)
|
rs1478132547
|
0.00001
|
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln)
|
rs374290658
|
0.00001
|
NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro)
|
rs781652731
|
0.00001
|
NM_001099922.3(ALG13):c.2529+5T>C
|
rs749420976
|
0.00001
|
NM_001099922.3(ALG13):c.2543T>C (p.Ile848Thr)
|
rs201541531
|
0.00001
|
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr)
|
rs1279923204
|
0.00001
|
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro)
|
rs199990990
|
0.00001
|
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr)
|
rs748792396
|
0.00001
|
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp)
|
rs755910935
|
0.00001
|
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)
|
rs759347694
|
0.00001
|
NM_001099922.3(ALG13):c.3190G>A (p.Ala1064Thr)
|
rs756710193
|
0.00001
|
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys)
|
rs1219035683
|
0.00001
|
NM_001099922.3(ALG13):c.3239C>T (p.Pro1080Leu)
|
rs375062698
|
0.00001
|
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser)
|
rs760819207
|
0.00001
|
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe)
|
rs1465704791
|
0.00001
|
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu)
|
rs1370248370
|
0.00001
|
NM_001099922.3(ALG13):c.3337G>A (p.Gly1113Ser)
|
rs755772374
|
0.00001
|
NM_001099922.3(ALG13):c.3382C>T (p.Pro1128Ser)
|
rs772141937
|
0.00001
|
NM_001099922.3(ALG13):c.358G>A (p.Gly120Ser)
|
rs778521226
|
0.00001
|
NM_001099922.3(ALG13):c.388C>G (p.Leu130Val)
|
rs1381653955
|
0.00001
|
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro)
|
rs1220905347
|
0.00001
|
NM_001099922.3(ALG13):c.43G>A (p.Asp15Asn)
|
rs776133794
|
0.00001
|
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr)
|
rs778099828
|
0.00001
|
NM_001099922.3(ALG13):c.602T>C (p.Leu201Pro)
|
rs1042682745
|
0.00001
|
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)
|
rs886042566
|
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_002435.3(MPI):c.1174C>T (p.Arg392Cys)
|
rs751962765
|
0.00001
|
NM_002435.3(MPI):c.1A>G (p.Met1Val)
|
rs528828174
|
0.00001
|
NM_002435.3(MPI):c.746T>C (p.Ile249Thr)
|
rs201676072
|
0.00001
|
NM_002435.3(MPI):c.7G>A (p.Ala3Thr)
|
rs770421382
|
0.00001
|
NM_002435.3(MPI):c.992A>C (p.Glu331Ala)
|
rs1223295146
|
0.00001
|
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr)
|
rs748252747
|
0.00001
|
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val)
|
rs777570538
|
0.00001
|
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly)
|
rs757573887
|
0.00001
|
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)
|
rs759782258
|
0.00001
|
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg)
|
rs377500536
|
0.00001
|
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser)
|
rs1213089649
|
0.00001
|
NM_002633.3(PGM1):c.425C>T (p.Ala142Val)
|
rs1276461747
|
0.00001
|
NM_002633.3(PGM1):c.76G>A (p.Val26Met)
|
rs1300863085
|
0.00001
|
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)
|
rs1466885233
|
0.00001
|
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)
|
rs778199808
|
0.00001
|
NM_002633.3(PGM1):c.986G>A (p.Arg329His)
|
rs747394265
|
0.00001
|
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)
|
rs562769511
|
0.00001
|
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)
|
rs1986767219
|
0.00001
|
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)
|
rs750927313
|
0.00001
|
NM_003859.3(DPM1):c.35G>T (p.Arg12Met)
|
rs559291357
|
0.00001
|
NM_003859.3(DPM1):c.49C>G (p.Leu17Val)
|
rs761143591
|
0.00001
|
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)
|
rs727503905
|
0.00001
|
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln)
|
rs11553474
|
0.00001
|
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)
|
rs747972169
|
0.00001
|
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)
|
rs769390268
|
0.00001
|
NM_003859.3(DPM1):c.675C>T (p.Gly225=)
|
rs1414447653
|
0.00001
|
NM_003859.3(DPM1):c.678+4T>G
|
rs948892336
|
0.00001
|
NM_003859.3(DPM1):c.701G>A (p.Arg234His)
|
rs760322056
|
0.00001
|
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)
|
rs1205339617
|
0.00001
|
NM_003859.3(DPM1):c.757T>G (p.Leu253Val)
|
rs773403940
|
0.00001
|
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)
|
rs748394583
|
0.00001
|
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn)
|
rs771463310
|
0.00001
|
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu)
|
rs370170911
|
0.00001
|
NM_003863.4(DPM2):c.127T>C (p.Tyr43His)
|
rs1275174624
|
0.00001
|
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn)
|
rs755055369
|
0.00001
|
NM_003863.4(DPM2):c.184C>G (p.Leu62Val)
|
rs766817693
|
0.00001
|
NM_003863.4(DPM2):c.197-9_197-8insA
|
rs1314437874
|
0.00001
|
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala)
|
rs759597928
|
0.00001
|
NM_003863.4(DPM2):c.3+5G>A
|
rs1333396682
|
0.00001
|
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)
|
rs772047932
|
0.00001
|
NM_004870.4(MPDU1):c.184G>A (p.Val62Met)
|
rs777819415
|
0.00001
|
NM_004870.4(MPDU1):c.303-16A>G
|
rs566030367
|
0.00001
|
NM_004870.4(MPDU1):c.511del (p.Leu171fs)
|
rs756471132
|
0.00001
|
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln)
|
rs200077070
|
0.00001
|
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn)
|
rs886045864
|
0.00001
|
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly)
|
rs1166127455
|
0.00001
|
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met)
|
rs530990753
|
0.00001
|
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln)
|
rs761548809
|
0.00001
|
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn)
|
rs778335267
|
0.00001
|
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala)
|
rs2053427789
|
0.00001
|
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala)
|
rs372948054
|
0.00001
|
NM_005216.5(DDOST):c.597G>A (p.Thr199=)
|
rs755031163
|
0.00001
|
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys)
|
rs748804145
|
0.00001
|
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His)
|
rs377073728
|
0.00001
|
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln)
|
rs775068875
|
0.00001
|
NM_005787.6(ALG3):c.223A>G (p.Met75Val)
|
rs961577496
|
0.00001
|
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp)
|
rs773227426
|
0.00001
|
NM_005787.6(ALG3):c.863C>T (p.Ala288Val)
|
rs772081381
|
0.00001
|
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)
|
rs756802179
|
0.00001
|
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys)
|
rs1718953951
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)
|
rs374873455
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala)
|
rs147833091
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu)
|
rs201857139
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)
|
rs1381866878
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu)
|
rs770611939
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)
|
rs907470146
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val)
|
rs1193899105
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly)
|
rs761024266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu)
|
rs942181771
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)
|
rs374410950
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg)
|
rs766998428
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
|
rs777130500
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val)
|
rs1289485537
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys)
|
rs1300082047
|
0.00001
|
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)
|
rs1247351393
|
0.00001
|
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)
|
rs879082266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)
|
rs369952560
|
0.00001
|
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu)
|
rs571403150
|
0.00001
|
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg)
|
rs946611542
|
0.00001
|
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys)
|
rs753314616
|
0.00001
|
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)
|
rs773660973
|
0.00001
|
NM_013339.4(ALG6):c.1129A>G (p.Met377Val)
|
rs934616664
|
0.00001
|
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)
|
rs150976885
|
0.00001
|
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile)
|
rs1461862944
|
0.00001
|
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile)
|
rs1212756714
|
0.00001
|
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg)
|
rs1475278999
|
0.00001
|
NM_013339.4(ALG6):c.1326+6T>A
|
rs765364882
|
0.00001
|
NM_013339.4(ALG6):c.1366A>G (p.Met456Val)
|
rs1463890121
|
0.00001
|
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser)
|
rs752244400
|
0.00001
|
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu)
|
rs548994709
|
0.00001
|
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val)
|
rs1215619833
|
0.00001
|
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr)
|
rs749363896
|
0.00001
|
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val)
|
rs1274029656
|
0.00001
|
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)
|
rs759636698
|
0.00001
|
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)
|
rs201074540
|
0.00001
|
NM_013339.4(ALG6):c.237T>G (p.His79Gln)
|
rs747184607
|
0.00001
|
NM_013339.4(ALG6):c.26T>C (p.Val9Ala)
|
rs1456036206
|
0.00001
|
NM_013339.4(ALG6):c.302G>A (p.Arg101His)
|
rs760245924
|
0.00001
|
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)
|
rs1407217511
|
0.00001
|
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser)
|
rs768049817
|
0.00001
|
NM_013339.4(ALG6):c.475A>G (p.Ile159Val)
|
rs531362960
|
0.00001
|
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr)
|
rs1037253381
|
0.00001
|
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser)
|
rs1250215676
|
0.00001
|
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr)
|
rs878890161
|
0.00001
|
NM_013339.4(ALG6):c.591A>G (p.Ile197Met)
|
rs753024606
|
0.00001
|
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
|
rs140879997
|
0.00001
|
NM_013339.4(ALG6):c.816+4T>C
|
rs762931650
|
0.00001
|
NM_013339.4(ALG6):c.862A>G (p.Ile288Val)
|
rs557790186
|
0.00001
|
NM_013339.4(ALG6):c.886A>G (p.Ile296Val)
|
rs1450720827
|
0.00001
|
NM_013339.4(ALG6):c.914C>T (p.Thr305Met)
|
rs546145736
|
0.00001
|
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro)
|
rs1212125571
|
0.00001
|
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln)
|
rs759025031
|
0.00001
|
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
|
rs371882757
|
0.00001
|
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys)
|
rs868232833
|
0.00001
|
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
|
rs747285047
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
|
rs753795845
|
0.00001
|
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
|
rs748688866
|
0.00001
|
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe)
|
rs771007659
|
0.00001
|
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)
|
rs1352546858
|
0.00001
|
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro)
|
rs1306365829
|
0.00001
|
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)
|
rs112448460
|
0.00001
|
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu)
|
rs1294479059
|
0.00001
|
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser)
|
rs748468540
|
0.00001
|
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val)
|
rs999023298
|
0.00001
|
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn)
|
rs1336940137
|
0.00001
|
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
|
rs780799327
|
0.00001
|
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val)
|
rs767693634
|
0.00001
|
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile)
|
rs1166313359
|
0.00001
|
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys)
|
rs537893599
|
0.00001
|
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe)
|
rs1841648949
|
0.00001
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
|
rs1403792413
|
0.00001
|
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu)
|
rs771383826
|
0.00001
|
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)
|
rs1385561774
|
0.00001
|
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg)
|
rs754744977
|
0.00001
|
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
|
rs753603168
|
0.00001
|
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
|
rs767180137
|
0.00001
|
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
|
rs1310123344
|
0.00001
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
NM_014908.4(DOLK):c.374del (p.Ser125fs)
|
rs1156844272
|
0.00001
|
NM_014908.4(DOLK):c.401G>A (p.Arg134His)
|
rs768596252
|
0.00001
|
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
|
rs780422418
|
0.00001
|
NM_014908.4(DOLK):c.448G>T (p.Val150Phe)
|
rs900642092
|
0.00001
|
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
|
rs1218829181
|
0.00001
|
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr)
|
rs1246967572
|
0.00001
|
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
|
rs1329633231
|
0.00001
|
NM_014908.4(DOLK):c.493A>G (p.Ile165Val)
|
rs762432181
|
0.00001
|
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
|
rs145177598
|
0.00001
|
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)
|
rs1201588280
|
0.00001
|
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu)
|
rs377658203
|
0.00001
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
0.00001
|
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
|
rs765382712
|
0.00001
|
NM_014908.4(DOLK):c.703G>A (p.Val235Ile)
|
rs759019995
|
0.00001
|
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)
|
rs201363976
|
0.00001
|
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
|
rs765475110
|
0.00001
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr)
|
rs764980710
|
0.00001
|
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe)
|
rs1186154711
|
0.00001
|
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
|
rs1401208309
|
0.00001
|
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
|
rs780974264
|
0.00001
|
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg)
|
rs1413752276
|
0.00001
|
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp)
|
rs1350623268
|
0.00001
|
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro)
|
rs750702584
|
0.00001
|
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser)
|
rs983547319
|
0.00001
|
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met)
|
rs762385611
|
0.00001
|
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn)
|
rs1308517122
|
0.00001
|
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr)
|
rs1413293071
|
0.00001
|
NM_019109.5(ALG1):c.1293G>A (p.Ala431=)
|
rs1047714
|
0.00001
|
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg)
|
rs1281758881
|
0.00001
|
NM_019109.5(ALG1):c.1360G>A (p.Val454Met)
|
rs1957095896
|
0.00001
|
NM_019109.5(ALG1):c.142C>T
|
rs1051082443
|
0.00001
|
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr)
|
rs1314923558
|
0.00001
|
NM_019109.5(ALG1):c.262T>G (p.Leu88Val)
|
rs794727301
|
0.00001
|
NM_019109.5(ALG1):c.287T>C (p.Val96Ala)
|
rs534863399
|
0.00001
|
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln)
|
rs1349600746
|
0.00001
|
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys)
|
rs200094659
|
0.00001
|
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe)
|
rs767756401
|
0.00001
|
NM_019109.5(ALG1):c.516T>G (p.His172Gln)
|
rs1310088513
|
0.00001
|
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser)
|
rs760563077
|
0.00001
|
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser)
|
rs780593921
|
0.00001
|
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln)
|
rs199674071
|
0.00001
|
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)
|
rs528261173
|
0.00001
|
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu)
|
rs1386626500
|
0.00001
|
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser)
|
rs1263087642
|
0.00001
|
NM_019109.5(ALG1):c.782C>T (p.Thr261Met)
|
rs534622519
|
0.00001
|
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly)
|
rs1234795312
|
0.00001
|
NM_019109.5(ALG1):c.961+6G>T
|
rs1304012856
|
0.00001
|
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu)
|
rs1859926872
|
0.00001
|
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val)
|
rs990677542
|
0.00001
|
NM_024079.5(ALG8):c.382A>G (p.Ile128Val)
|
rs111831728
|
0.00001
|
NM_024079.5(ALG8):c.439G>T (p.Val147Leu)
|
rs748027702
|
0.00001
|
NM_024079.5(ALG8):c.479-3C>G
|
rs753257659
|
0.00001
|
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr)
|
rs1276719307
|
0.00001
|
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly)
|
rs747813537
|
0.00001
|
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg)
|
rs377095724
|
0.00001
|
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile)
|
rs761515996
|
0.00001
|
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu)
|
rs759794733
|
0.00001
|
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala)
|
rs996114708
|
0.00001
|
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys)
|
rs745510179
|
0.00001
|
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp)
|
rs2060527901
|
0.00001
|
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp)
|
rs1569172835
|
0.00001
|
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu)
|
rs778688714
|
0.00001
|
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr)
|
rs761301009
|
0.00001
|
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu)
|
rs886057614
|
0.00001
|
NM_024105.4(ALG12):c.377T>G (p.Val126Gly)
|
rs556496917
|
0.00001
|
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu)
|
rs1010347575
|
0.00001
|
NM_024105.4(ALG12):c.415C>T (p.His139Tyr)
|
rs200490756
|
0.00001
|
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser)
|
rs2060570009
|
0.00001
|
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg)
|
rs1410146441
|
0.00001
|
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr)
|
rs751491422
|
0.00001
|
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly)
|
rs1569176254
|
0.00001
|
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu)
|
rs777173365
|
0.00001
|
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu)
|
rs1339045983
|
0.00001
|
NM_024105.4(ALG12):c.863C>T (p.Thr288Met)
|
rs748227291
|
0.00001
|
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu)
|
rs778608834
|
0.00001
|
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro)
|
rs774052738
|
0.00001
|
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys)
|
rs372655623
|
0.00001
|
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro)
|
rs1200180536
|
0.00001
|
NM_024105.4(ALG12):c.968C>T (p.Thr323Met)
|
rs754936149
|
0.00001
|
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr)
|
rs1371150654
|
0.00001
|
NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg)
|
rs530006860
|
0.00001
|
NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val)
|
rs1175656094
|
0.00001
|
NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile)
|
rs758023141
|
0.00001
|
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)
|
rs768516153
|
0.00001
|
NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser)
|
rs569181314
|
0.00001
|
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)
|
rs1555122792
|
0.00001
|
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val)
|
rs782350313
|
0.00001
|
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys)
|
rs782251524
|
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
|
NM_052859.4(RFT1):c.1100C>A (p.Ser367Tyr)
|
rs991499046
|
0.00001
|
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser)
|
rs483352764
|
0.00001
|
NM_052859.4(RFT1):c.1169G>A (p.Cys390Tyr)
|
rs758102329
|
0.00001
|
NM_052859.4(RFT1):c.1183G>A (p.Ala395Thr)
|
rs765115802
|
0.00001
|
NM_052859.4(RFT1):c.1315A>G (p.Met439Val)
|
rs754783004
|
0.00001
|
NM_052859.4(RFT1):c.1355G>A (p.Arg452His)
|
rs372822382
|
0.00001
|
NM_052859.4(RFT1):c.1376A>G (p.His459Arg)
|
rs144531852
|
0.00001
|
NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp)
|
rs1191825046
|
0.00001
|
NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg)
|
rs754212502
|
0.00001
|
NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu)
|
rs377516481
|
0.00001
|
NM_052859.4(RFT1):c.149+5G>A
|
rs775590840
|
0.00001
|
NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg)
|
rs927269749
|
0.00001
|
NM_052859.4(RFT1):c.155C>T (p.Thr52Met)
|
rs764531159
|
0.00001
|
NM_052859.4(RFT1):c.271C>T (p.Pro91Ser)
|
rs147915986
|
0.00001
|
NM_052859.4(RFT1):c.326A>C (p.Glu109Ala)
|
rs1384861869
|
0.00001
|
NM_052859.4(RFT1):c.386C>T (p.Ser129Leu)
|
rs754395993
|
0.00001
|
NM_052859.4(RFT1):c.541A>G (p.Ile181Val)
|
rs771804132
|
0.00001
|
NM_052859.4(RFT1):c.558+6A>T
|
rs886058726
|
0.00001
|
NM_052859.4(RFT1):c.63G>A (p.Gln21=)
|
rs139372284
|
0.00001
|
NM_052859.4(RFT1):c.64G>A (p.Val22Met)
|
rs374252619
|
0.00001
|
NM_052859.4(RFT1):c.665C>T (p.Thr222Ile)
|
rs1323618296
|
0.00001
|
NM_052859.4(RFT1):c.698C>T (p.Ala233Val)
|
rs751030368
|
0.00001
|
NM_052859.4(RFT1):c.728C>T (p.Thr243Ile)
|
rs762597470
|
0.00001
|
NM_052859.4(RFT1):c.839T>C (p.Ile280Thr)
|
rs757620281
|
0.00001
|
NM_052859.4(RFT1):c.968C>G (p.Ala323Gly)
|
rs770086765
|
0.00001
|
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp)
|
rs934670535
|
0.00001
|
NM_138459.5(NUS1):c.154C>G (p.Leu52Val)
|
rs1472312886
|
0.00001
|
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln)
|
rs1374617888
|
0.00001
|
NM_138459.5(NUS1):c.185T>G (p.Val62Gly)
|
rs754191035
|
0.00001
|
NM_138459.5(NUS1):c.202C>T (p.His68Tyr)
|
rs1392977734
|
0.00001
|
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys)
|
rs1426327353
|
0.00001
|
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)
|
rs1369494529
|
0.00001
|
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg)
|
rs540846579
|
0.00001
|
NM_138459.5(NUS1):c.351C>G (p.Ile117Met)
|
rs1344911571
|
0.00001
|
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe)
|
rs962512059
|
0.00001
|
NM_138459.5(NUS1):c.487G>C (p.Asp163His)
|
rs369403261
|
0.00001
|
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu)
|
rs751210637
|
0.00001
|
NM_138459.5(NUS1):c.601G>A (p.Val201Ile)
|
rs1238998019
|
0.00001
|
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser)
|
rs1198292880
|
0.00001
|
NM_138459.5(NUS1):c.787A>G (p.Ile263Val)
|
rs1773460765
|
0.00001
|
NM_138459.5(NUS1):c.790G>A (p.Val264Ile)
|
rs1562183021
|
0.00001
|
NM_138459.5(NUS1):c.845G>A (p.Arg282His)
|
rs140791750
|
0.00001
|
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr)
|
rs1204451277
|
0.00001
|
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)
|
rs776662775
|
0.00001
|
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)
|
rs745807155
|
0.00001
|
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)
|
rs758821383
|
0.00001
|
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val)
|
rs559861697
|
0.00001
|
NM_178862.3(STT3B):c.490G>A (p.Val164Ile)
|
rs1223992368
|
0.00001
|
NM_201400.4(EEF2KMT):c.*893A>C
|
rs1047764
|
0.00001
|
NC_000001.10:g.(?_155112438)_(155112716_?)dup
|
|
|
NC_000001.10:g.(?_19199339)_(22987879_?)dup
|
|
|
NC_000001.10:g.(?_64059160)_(64059425_?)dup
|
|
|
NC_000001.11:g.(?_155139952)_(155140340_?)dup
|
|
|
NC_000001.11:g.(?_20652359)_(20661421_?)del
|
|
|
NC_000003.11:g.(?_182733226)_(184094097_?)del
|
|
|
NC_000003.11:g.(?_52109903)_(53164416_?)del
|
|
|
NC_000003.11:g.(?_53125919)_(53164416_?)dup
|
|
|
NC_000003.11:g.(?_53133377)_(53133522_?)del
|
|
|
NC_000003.11:g.(?_53155766)_(53156657_?)del
|
|
|
NC_000006.11:g.(?_117786180)_(117997268_?)dup
|
|
|
NC_000006.11:g.(?_118028088)_(118028178_?)del
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_130216797)_(130953151_?)dup
|
|
|
NC_000009.11:g.(?_131707946)_(131709602_?)dup
|
|
|
NC_000009.12:g.(?_128945677)_(128947313_?)dup
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)dup
|
|
|
NC_000012.11:g.(?_124191253)_(124207015_?)dup
|
|
|
NC_000013.10:g.(?_52538988)_(52602746_?)dup
|
|
|
NC_000016.10:g.(?_8750402)_(8801930_?)dup
|
|
|
NC_000016.10:g.(?_8764049)_(8811733_?)dup
|
|
|
NC_000016.10:g.(?_8768173)_(8832245_?)dup
|
|
|
NC_000016.10:g.(?_8772760)_(8847845_?)dup
|
|
|
NC_000016.10:g.(?_8781289)_(8847845_?)dup
|
|
|
NC_000016.9:g.(?_5121851)_(5127555_?)dup
|
|
|
NC_000016.9:g.(?_5130927)_(5131077_?)dup
|
|
|
NC_000016.9:g.(?_5132540)_(5134882_?)dup
|
|
|
NC_000016.9:g.(?_5134731)_(5134882_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8905055_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891573)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891720)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8926102)_(8941682_?)dup
|
|
|
NC_000020.10:g.(?_49557382)_(49558683_?)dup
|
|
|
NC_000022.10:g.(?_50167881)_(51066207_?)dup
|
|
|
NC_000022.10:g.(?_50297486)_(50301612_?)del
|
|
|
NC_000022.11:g.(?_49903818)_(49907964_?)del
|
|
|
NC_000023.10:g.(?_109919459)_(111003227_?)del
|
|
|
NC_000023.10:g.(?_110544895)_(111003247_?)del
|
|
|
NC_000023.10:g.(?_110924427)_(111003247_?)dup
|
|
|
NC_000023.10:g.(?_110973603)_(110973828_?)del
|
|
|
NC_000023.11:g.(?_111301667)_(111760019_?)dup
|
|
|
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
|
|
|
NM_000303.3(PMM2):c.127G>T (p.Val43Leu)
|
rs376754460
|
|
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu)
|
rs2141017011
|
|
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
|
|
|
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
|
|
|
NM_000303.3(PMM2):c.178+3A>G
|
|
|
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
|
|
|
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
|
|
|
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
|
|
|
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
|
|
|
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
|
|
|
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
|
|
|
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
|
|
|
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
|
|
|
NM_000303.3(PMM2):c.347+3G>A
|
|
|
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
|
rs104894530
|
|
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)
|
rs886043289
|
|
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
|
|
|
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp)
|
rs2141022972
|
|
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
|
|
|
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)
|
rs1473030550
|
|
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr)
|
rs2060675203
|
|
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
|
|
|
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
|
|
|
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
|
|
|
NM_000303.3(PMM2):c.472G>A (p.Val158Ile)
|
rs969802549
|
|
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
|
|
|
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
|
|
|
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr)
|
rs2141014078
|
|
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe)
|
rs183384745
|
|
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
|
|
|
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
|
|
|
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
|
|
|
NM_000303.3(PMM2):c.523+5T>C
|
|
|
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)
|
rs940938678
|
|
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
|
|
|
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser)
|
rs1293479073
|
|
NM_000303.3(PMM2):c.544G>C (p.Val182Leu)
|
rs750862179
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
NM_000303.3(PMM2):c.56C>T (p.Ala19Val)
|
rs750307011
|
|
NM_000303.3(PMM2):c.571T>C (p.Tyr191His)
|
rs1267170921
|
|
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser)
|
rs773420873
|
|
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
|
|
|
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
|
|
|
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg)
|
rs2060588870
|
|
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
|
|
|
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
|
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
|
|
|
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
|
|
|
NM_000303.3(PMM2):c.640-13C>A
|
rs372181885
|
|
NM_000303.3(PMM2):c.640-16C>G
|
rs2141051377
|
|
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
|
|
|
NM_000303.3(PMM2):c.67-6A>G
|
|
|
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)
|
rs778488908
|
|
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
|
|
|
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
|
|
|
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
|
|
|
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
|
|
|
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
|
|
|
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
|
|
|
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
|
|
|
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr)
|
rs769177253
|
|
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
|
|
|
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
|
|
|
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
|
|
|
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)
|
rs757069433
|
|
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
|
|
|
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
|
|
|
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu)
|
rs2140832522
|
|
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
|
|
|
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly)
|
rs1444016944
|
|
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
|
|
|
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
|
|
|
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
|
rs1363416785
|
|
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys)
|
rs1954216629
|
|
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly)
|
rs142637770
|
|
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
|
|
|
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)
|
rs1401571024
|
|
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
|
rs1593903383
|
|
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu)
|
rs2140840089
|
|
NM_001099922.3(ALG13):c.1001A>G (p.Asp334Gly)
|
rs1940092970
|
|
NM_001099922.3(ALG13):c.1003A>C (p.Lys335Gln)
|
|
|
NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)
|
|
|
NM_001099922.3(ALG13):c.1028G>A (p.Ser343Asn)
|
|
|
NM_001099922.3(ALG13):c.1070G>A (p.Ser357Asn)
|
|
|
NM_001099922.3(ALG13):c.1114G>A (p.Asp372Asn)
|
rs2148112840
|
|
NM_001099922.3(ALG13):c.1143G>C (p.Leu381Phe)
|
|
|
NM_001099922.3(ALG13):c.1144A>G (p.Lys382Glu)
|
rs1940898635
|
|
NM_001099922.3(ALG13):c.114C>G (p.Ile38Met)
|
rs1206750653
|
|
NM_001099922.3(ALG13):c.1225G>C (p.Asp409His)
|
rs940730126
|
|
NM_001099922.3(ALG13):c.1264G>A (p.Gly422Ser)
|
rs990346795
|
|
NM_001099922.3(ALG13):c.1310G>A (p.Gly437Glu)
|
|
|
NM_001099922.3(ALG13):c.1317A>C (p.Glu439Asp)
|
|
|
NM_001099922.3(ALG13):c.1318G>A (p.Glu440Lys)
|
rs2148136453
|
|
NM_001099922.3(ALG13):c.1326+3T>A
|
|
|
NM_001099922.3(ALG13):c.1436-3T>C
|
|
|
NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu)
|
|
|
NM_001099922.3(ALG13):c.1481A>G (p.Tyr494Cys)
|
|
|
NM_001099922.3(ALG13):c.1483T>G (p.Leu495Val)
|
|
|
NM_001099922.3(ALG13):c.1491C>A (p.Asp497Glu)
|
|
|
NM_001099922.3(ALG13):c.1501-5T>C
|
|
|
NM_001099922.3(ALG13):c.1518A>T (p.Glu506Asp)
|
rs1941679245
|
|
NM_001099922.3(ALG13):c.1562A>G (p.Asn521Ser)
|
|
|
NM_001099922.3(ALG13):c.159T>C (p.Thr53=)
|
|
|
NM_001099922.3(ALG13):c.1619C>G (p.Ala540Gly)
|
rs1234385710
|
|
NM_001099922.3(ALG13):c.1641A>T (p.Gln547His)
|
rs768589790
|
|
NM_001099922.3(ALG13):c.1642G>A (p.Val548Met)
|
rs1941813123
|
|
NM_001099922.3(ALG13):c.164C>T (p.Ser55Leu)
|
rs1933620653
|
|
NM_001099922.3(ALG13):c.1651G>C (p.Val551Leu)
|
|
|
NM_001099922.3(ALG13):c.1691G>T (p.Gly564Val)
|
|
|
NM_001099922.3(ALG13):c.1706C>T (p.Pro569Leu)
|
|
|
NM_001099922.3(ALG13):c.1730-9G>A
|
rs767872924
|
|
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val)
|
rs199505558
|
|
NM_001099922.3(ALG13):c.1838C>G (p.Pro613Arg)
|
|
|
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)
|
rs1942117760
|
|
NM_001099922.3(ALG13):c.1843C>G (p.Leu615Val)
|
rs374231091
|
|
NM_001099922.3(ALG13):c.1844T>G (p.Leu615Arg)
|
|
|
NM_001099922.3(ALG13):c.1886A>G (p.Tyr629Cys)
|
|
|
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)
|
rs1602745141
|
|
NM_001099922.3(ALG13):c.1900G>C (p.Gly634Arg)
|
|
|
NM_001099922.3(ALG13):c.1909A>G (p.Met637Val)
|
|
|
NM_001099922.3(ALG13):c.191A>G (p.Lys64Arg)
|
rs2147626333
|
|
NM_001099922.3(ALG13):c.1930C>G (p.Pro644Ala)
|
|
|
NM_001099922.3(ALG13):c.1945C>G (p.Pro649Ala)
|
|
|
NM_001099922.3(ALG13):c.1946C>T (p.Pro649Leu)
|
|
|
NM_001099922.3(ALG13):c.1969A>G (p.Met657Val)
|
rs2148221188
|
|
NM_001099922.3(ALG13):c.197C>A (p.Ser66Tyr)
|
|
|
NM_001099922.3(ALG13):c.2003ACA[1] (p.Asn669del)
|
rs1489100083
|
|
NM_001099922.3(ALG13):c.2022A>T (p.Lys674Asn)
|
|
|
NM_001099922.3(ALG13):c.2023G>A (p.Val675Ile)
|
rs2148225487
|
|
NM_001099922.3(ALG13):c.2024T>G (p.Val675Gly)
|
rs2148225523
|
|
NM_001099922.3(ALG13):c.2027A>C (p.Asp676Ala)
|
|
|
NM_001099922.3(ALG13):c.2048A>G (p.Lys683Arg)
|
rs1942189933
|
|
NM_001099922.3(ALG13):c.2053T>A (p.Cys685Ser)
|
|
|
NM_001099922.3(ALG13):c.2077T>A (p.Ser693Thr)
|
rs1942193577
|
|
NM_001099922.3(ALG13):c.2090G>A (p.Arg697His)
|
rs1416055334
|
|
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe)
|
rs1569519563
|
|
NM_001099922.3(ALG13):c.2206G>A (p.Glu736Lys)
|
rs2148229477
|
|
NM_001099922.3(ALG13):c.2222A>G (p.Asp741Gly)
|
rs1942226321
|
|
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
|
|
|
NM_001099922.3(ALG13):c.2239A>G (p.Thr747Ala)
|
|
|
NM_001099922.3(ALG13):c.2261C>T (p.Pro754Leu)
|
rs1242753495
|
|
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile)
|
rs2148234911
|
|
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
|
|
|
NM_001099922.3(ALG13):c.2293T>C (p.Cys765Arg)
|
rs927961674
|
|
NM_001099922.3(ALG13):c.2296G>A (p.Val766Ile)
|
|
|
NM_001099922.3(ALG13):c.22G>C (p.Val8Leu)
|
rs2147592883
|
|
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg)
|
rs1556509706
|
|
NM_001099922.3(ALG13):c.2332T>G (p.Leu778Val)
|
rs755678773
|
|
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe)
|
rs1942288359
|
|
NM_001099922.3(ALG13):c.2367T>A (p.Asn789Lys)
|
|
|
NM_001099922.3(ALG13):c.2384A>T (p.Glu795Val)
|
rs2148261992
|
|
NM_001099922.3(ALG13):c.2398G>T (p.Ala800Ser)
|
|
|
NM_001099922.3(ALG13):c.2402-3T>C
|
rs1942568665
|
|
NM_001099922.3(ALG13):c.2411A>G (p.Tyr804Cys)
|
|
|
NM_001099922.3(ALG13):c.2440G>A (p.Ala814Thr)
|
|
|
NM_001099922.3(ALG13):c.2453A>T (p.Asn818Ile)
|
rs770109323
|
|
NM_001099922.3(ALG13):c.2458-12_2458-10del
|
|
|
NM_001099922.3(ALG13):c.2458-15_2486del
|
rs770762084
|
|
NM_001099922.3(ALG13):c.2458-1G>A
|
rs1008287339
|
|
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
|
|
|
NM_001099922.3(ALG13):c.2476T>A (p.Ser826Thr)
|
|
|
NM_001099922.3(ALG13):c.2479T>A (p.Cys827Ser)
|
rs1943106113
|
|
NM_001099922.3(ALG13):c.2494C>G (p.Gln832Glu)
|
rs2148314775
|
|
NM_001099922.3(ALG13):c.2495A>G (p.Gln832Arg)
|
|
|
NM_001099922.3(ALG13):c.2503G>A (p.Val835Ile)
|
rs1943108263
|
|
NM_001099922.3(ALG13):c.2516A>G (p.Asn839Ser)
|
rs1943109281
|
|
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys)
|
rs1602807307
|
|
NM_001099922.3(ALG13):c.2529G>A (p.Lys843=)
|
|
|
NM_001099922.3(ALG13):c.2536G>A (p.Gly846Arg)
|
|
|
NM_001099922.3(ALG13):c.256T>A (p.Cys86Ser)
|
rs1934564084
|
|
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser)
|
rs1556516921
|
|
NM_001099922.3(ALG13):c.2578C>G (p.Pro860Ala)
|
rs2148331392
|
|
NM_001099922.3(ALG13):c.2582C>T (p.Ala861Val)
|
|
|
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe)
|
rs1556516959
|
|
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser)
|
rs1408463417
|
|
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe)
|
rs755213977
|
|
NM_001099922.3(ALG13):c.2623A>G (p.Ser875Gly)
|
|
|
NM_001099922.3(ALG13):c.2624G>A (p.Ser875Asn)
|
rs757522953
|
|
NM_001099922.3(ALG13):c.2635G>C (p.Val879Leu)
|
rs2148332060
|
|
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup)
|
rs1276026793
|
|
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val)
|
rs1556517111
|
|
NM_001099922.3(ALG13):c.2668G>C (p.Val890Leu)
|
|
|
NM_001099922.3(ALG13):c.2677C>T (p.Pro893Ser)
|
|
|
NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala)
|
|
|
NM_001099922.3(ALG13):c.2687G>A (p.Gly896Asp)
|
|
|
NM_001099922.3(ALG13):c.2714A>G (p.Tyr905Cys)
|
|
|
NM_001099922.3(ALG13):c.2731A>G (p.Ile911Val)
|
|
|
NM_001099922.3(ALG13):c.2754ACC[19] (p.Pro942_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[21] (p.Pro940_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[7] (p.Pro938_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[9] (p.Pro940_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr)
|
rs1944061818
|
|
NM_001099922.3(ALG13):c.2756C>A (p.Pro919Gln)
|
|
|
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
|
|
|
NM_001099922.3(ALG13):c.2758C>T (p.Pro920Ser)
|
|
|
NM_001099922.3(ALG13):c.2768C>A (p.Pro923Gln)
|
|
|
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu)
|
rs1047232159
|
|
NM_001099922.3(ALG13):c.2792C>T (p.Pro931Leu)
|
|
|
NM_001099922.3(ALG13):c.2795C>A (p.Pro932Gln)
|
rs773392173
|
|
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu)
|
rs773392173
|
|
NM_001099922.3(ALG13):c.2797CCT[5] (p.Pro938_Pro945del)
|
|
|
NM_001099922.3(ALG13):c.2797CCT[6] (p.Pro939_Pro945del)
|
|
|
NM_001099922.3(ALG13):c.2797CCT[7] (p.Pro940_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797_2798insGAC (p.Pro932_Pro933insArg)
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCACCACCACCACCTCC (p.Pro945_Ala946insProProProProProProPro)
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCC (p.Pro942_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCCTCC (p.Pro945_Ala946insProProProProPro)
|
|
|
NM_001099922.3(ALG13):c.2801C>T (p.Pro934Leu)
|
rs2148405253
|
|
NM_001099922.3(ALG13):c.2809C>G (p.Pro937Ala)
|
rs1358741065
|
|
NM_001099922.3(ALG13):c.2815C>T (p.Pro939Ser)
|
|
|
NM_001099922.3(ALG13):c.2818C>A (p.Pro940Thr)
|
|
|
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala)
|
rs887315764
|
|
NM_001099922.3(ALG13):c.2827C>T (p.Pro943Ser)
|
|
|
NM_001099922.3(ALG13):c.2828_2839del (p.Pro943_Ala946del)
|
rs1569522062
|
|
NM_001099922.3(ALG13):c.2831_2839del (p.Pro944_Ala946del)
|
rs1944088858
|
|
NM_001099922.3(ALG13):c.2845G>A (p.Val949Met)
|
|
|
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu)
|
rs2147692312
|
|
NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)
|
|
|
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup)
|
rs771610606
|
|
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del)
|
rs746614953
|
|
NM_001099922.3(ALG13):c.2887C>T (p.Pro963Ser)
|
rs771778284
|
|
NM_001099922.3(ALG13):c.2888C>T (p.Pro963Leu)
|
|
|
NM_001099922.3(ALG13):c.2912G>A (p.Ser971Asn)
|
rs2148407042
|
|
NM_001099922.3(ALG13):c.2983C>A (p.His995Asn)
|
rs1945383559
|
|
NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del)
|
rs770600982
|
|
NM_001099922.3(ALG13):c.3035A>C (p.His1012Pro)
|
|
|
NM_001099922.3(ALG13):c.3037G>A (p.Val1013Ile)
|
|
|
NM_001099922.3(ALG13):c.3067C>T (p.Pro1023Ser)
|
rs2148514193
|
|
NM_001099922.3(ALG13):c.3088C>A (p.Pro1030Thr)
|
rs1156871693
|
|
NM_001099922.3(ALG13):c.3095G>A (p.Cys1032Tyr)
|
|
|
NM_001099922.3(ALG13):c.3105G>T (p.Glu1035Asp)
|
|
|
NM_001099922.3(ALG13):c.3108GAG[1] (p.Arg1038del)
|
|
|
NM_001099922.3(ALG13):c.3117A>T (p.Glu1039Asp)
|
rs2148514625
|
|
NM_001099922.3(ALG13):c.3119A>G (p.Asp1040Gly)
|
rs2148514658
|
|
NM_001099922.3(ALG13):c.3124A>G (p.Ile1042Val)
|
rs2148514763
|
|
NM_001099922.3(ALG13):c.312G>C (p.Leu104Phe)
|
|
|
NM_001099922.3(ALG13):c.3131C>T (p.Ala1044Val)
|
|
|
NM_001099922.3(ALG13):c.3146A>G (p.Asn1049Ser)
|
|
|
NM_001099922.3(ALG13):c.3158C>T (p.Pro1053Leu)
|
|
|
NM_001099922.3(ALG13):c.3181C>T (p.Pro1061Ser)
|
rs1945590685
|
|
NM_001099922.3(ALG13):c.3182C>T (p.Pro1061Leu)
|
|
|
NM_001099922.3(ALG13):c.3184C>T (p.His1062Tyr)
|
rs750471213
|
|
NM_001099922.3(ALG13):c.3205G>A (p.Val1069Ile)
|
rs2148530841
|
|
NM_001099922.3(ALG13):c.3211T>G (p.Ser1071Ala)
|
rs2148530883
|
|
NM_001099922.3(ALG13):c.3218C>G (p.Pro1073Arg)
|
|
|
NM_001099922.3(ALG13):c.3251C>A (p.Ser1084Tyr)
|
rs1945595856
|
|
NM_001099922.3(ALG13):c.3260C>T (p.Pro1087Leu)
|
rs1945596491
|
|
NM_001099922.3(ALG13):c.3281G>A (p.Cys1094Tyr)
|
|
|
NM_001099922.3(ALG13):c.3290C>T (p.Pro1097Leu)
|
|
|
NM_001099922.3(ALG13):c.3301G>T (p.Val1101Phe)
|
rs1370248370
|
|
NM_001099922.3(ALG13):c.3347A>G (p.Asn1116Ser)
|
rs1323383971
|
|
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala)
|
rs1603004235
|
|
NM_001099922.3(ALG13):c.3391C>T (p.His1131Tyr)
|
|
|
NM_001099922.3(ALG13):c.3398T>A (p.Val1133Glu)
|
|
|
NM_001099922.3(ALG13):c.3400C>T (p.Pro1134Ser)
|
|
|
NM_001099922.3(ALG13):c.359G>A (p.Gly120Asp)
|
rs1934591547
|
|
NM_001099922.3(ALG13):c.35G>A (p.Ser12Asn)
|
rs2147593382
|
|
NM_001099922.3(ALG13):c.361C>T (p.His121Tyr)
|
|
|
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly)
|
rs1556449735
|
|
NM_001099922.3(ALG13):c.377C>A (p.Thr126Asn)
|
|
|
NM_001099922.3(ALG13):c.382A>G (p.Arg128Gly)
|
rs1934600580
|
|
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu)
|
rs1602635058
|
|
NM_001099922.3(ALG13):c.410A>G (p.Lys137Arg)
|
|
|
NM_001099922.3(ALG13):c.422C>T (p.Ser141Phe)
|
rs1432301604
|
|
NM_001099922.3(ALG13):c.424G>A (p.Ala142Thr)
|
rs1939098208
|
|
NM_001099922.3(ALG13):c.430G>A (p.Gly144Arg)
|
rs1452792292
|
|
NM_001099922.3(ALG13):c.43G>T (p.Asp15Tyr)
|
rs776133794
|
|
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val)
|
rs1060500008
|
|
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer)
|
rs964823190
|
|
NM_001099922.3(ALG13):c.463A>G (p.Thr155Ala)
|
|
|
NM_001099922.3(ALG13):c.463del (p.Thr155fs)
|
|
|
NM_001099922.3(ALG13):c.476_481del (p.Gly159_Leu160del)
|
rs750251838
|
|
NM_001099922.3(ALG13):c.497C>G (p.Ser166Cys)
|
rs2147996812
|
|
NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)
|
|
|
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val)
|
rs188589829
|
|
NM_001099922.3(ALG13):c.52_54dup (p.Ala18dup)
|
rs1933041651
|
|
NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu)
|
|
|
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)
|
rs774646647
|
|
NM_001099922.3(ALG13):c.563C>G (p.Ser188Cys)
|
rs772044321
|
|
NM_001099922.3(ALG13):c.568C>T (p.His190Tyr)
|
rs1939123103
|
|
NM_001099922.3(ALG13):c.593C>T (p.Thr198Ile)
|
|
|
NM_001099922.3(ALG13):c.597del (p.Thr200fs)
|
rs2147998012
|
|
NM_001099922.3(ALG13):c.598A>G (p.Thr200Ala)
|
|
|
NM_001099922.3(ALG13):c.598_602del (p.Thr200fs)
|
rs1939127665
|
|
NM_001099922.3(ALG13):c.628A>C (p.Asn210His)
|
|
|
NM_001099922.3(ALG13):c.62C>G (p.Ser21Trp)
|
|
|
NM_001099922.3(ALG13):c.62C>T (p.Ser21Leu)
|
rs1602457991
|
|
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys)
|
rs1556483387
|
|
NM_001099922.3(ALG13):c.649T>G (p.Leu217Val)
|
rs2147998654
|
|
NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr)
|
rs1933048489
|
|
NM_001099922.3(ALG13):c.65C>A (p.Ala22Glu)
|
|
|
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu)
|
rs1602636547
|
|
NM_001099922.3(ALG13):c.664A>G (p.Met222Val)
|
rs766905095
|
|
NM_001099922.3(ALG13):c.683G>T (p.Ser228Ile)
|
rs1186351490
|
|
NM_001099922.3(ALG13):c.716A>G (p.Asp239Gly)
|
rs1939143318
|
|
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn)
|
rs1057522540
|
|
NM_001099922.3(ALG13):c.750+6del
|
|
|
NM_001099922.3(ALG13):c.751T>C (p.Leu251=)
|
|
|
NM_001099922.3(ALG13):c.766G>T (p.Val256Phe)
|
|
|
NM_001099922.3(ALG13):c.805A>G (p.Met269Val)
|
|
|
NM_001099922.3(ALG13):c.812A>G (p.Glu271Gly)
|
|
|
NM_001099922.3(ALG13):c.818A>C (p.Gln273Pro)
|
|
|
NM_001099922.3(ALG13):c.834T>A (p.Ser278=)
|
|
|
NM_001099922.3(ALG13):c.84A>G (p.Lys28=)
|
|
|
NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)
|
|
|
NM_001099922.3(ALG13):c.858A>C (p.Lys286Asn)
|
rs1939806996
|
|
NM_001099922.3(ALG13):c.862C>G (p.Leu288Val)
|
|
|
NM_001099922.3(ALG13):c.869G>A (p.Arg290Gln)
|
rs1939809151
|
|
NM_001099922.3(ALG13):c.887A>G (p.Glu296Gly)
|
rs2148043587
|
|
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)
|
rs372176416
|
|
NM_001099922.3(ALG13):c.89A>C (p.Glu30Ala)
|
|
|
NM_001099922.3(ALG13):c.923T>C (p.Leu308Pro)
|
|
|
NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)
|
|
|
NM_001099922.3(ALG13):c.933-3T>C
|
|
|
NM_001099922.3(ALG13):c.935G>T (p.Arg312Leu)
|
rs1455053208
|
|
NM_001099922.3(ALG13):c.942C>G (p.Phe314Leu)
|
|
|
NM_001099922.3(ALG13):c.950A>T (p.Tyr317Phe)
|
|
|
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)
|
rs775191661
|
|
NM_001099922.3(ALG13):c.953G>A (p.Arg318His)
|
|
|
NM_001099922.3(ALG13):c.977A>G (p.Tyr326Cys)
|
rs1940090808
|
|
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_002435.3(MPI):c.1096T>C (p.Ser366Pro)
|
rs1555479551
|
|
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile)
|
rs2141209748
|
|
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
|
|
|
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
|
|
|
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
|
|
|
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
|
|
|
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
|
|
|
NM_002435.3(MPI):c.194G>A (p.Arg65His)
|
|
|
NM_002435.3(MPI):c.238G>A (p.Asp80Asn)
|
rs1444877183
|
|
NM_002435.3(MPI):c.33T>G (p.Cys11Trp)
|
rs2064708840
|
|
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
|
|
|
NM_002435.3(MPI):c.455G>C (p.Arg152Pro)
|
rs766458792
|
|
NM_002435.3(MPI):c.45G>C (p.Gln15His)
|
rs371649838
|
|
NM_002435.3(MPI):c.527C>T (p.Ala176Val)
|
rs1256364766
|
|
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
|
|
|
NM_002435.3(MPI):c.533A>C (p.His178Pro)
|
rs2141200350
|
|
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
|
|
|
NM_002435.3(MPI):c.602T>C (p.Leu201Pro)
|
rs2064752971
|
|
NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
|
|
|
NM_002435.3(MPI):c.670+3G>A
|
|
|
NM_002435.3(MPI):c.695A>G (p.Asp232Gly)
|
rs765912695
|
|
NM_002435.3(MPI):c.843_844+1del
|
|
|
NM_002435.3(MPI):c.845-9T>C
|
|
|
NM_002435.3(MPI):c.914T>A (p.Val305Glu)
|
|
|
NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
|
|
|
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)
|
rs1553121290
|
|
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
|
|
|
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
|
|
|
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
|
|
|
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)
|
rs146477640
|
|
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
|
|
|
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
|
|
|
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
|
|
|
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
|
|
|
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
|
|
|
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
|
|
|
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
|
|
|
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
|
|
|
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val)
|
rs760318393
|
|
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
|
|
|
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
|
|
|
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser)
|
rs754131603
|
|
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu)
|
rs567337429
|
|
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)
|
rs374207269
|
|
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
|
|
|
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
|
|
|
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
|
|
|
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
|
|
|
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
|
|
|
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)
|
rs148979330
|
|
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
|
|
|
NM_002633.3(PGM1):c.1464+19G>C
|
|
|
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
|
|
|
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
|
|
|
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
|
|
|
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
|
|
|
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)
|
rs377179134
|
|
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
|
|
|
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
|
|
|
NM_002633.3(PGM1):c.1599+5C>T
|
|
|
NM_002633.3(PGM1):c.1599+6G>A
|
|
|
NM_002633.3(PGM1):c.1599+6G>T
|
|
|
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
|
|
|
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)
|
rs1650066188
|
|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
|
NM_002633.3(PGM1):c.199A>G (p.Met67Val)
|
rs561236041
|
|
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
|
|
|
NM_002633.3(PGM1):c.216G>C (p.Gln72His)
|
rs1280037054
|
|
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)
|
rs199928376
|
|
NM_002633.3(PGM1):c.246+20_246+21delinsAA
|
|
|
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
|
|
|
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
|
|
|
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
|
|
|
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)
|
rs1356647959
|
|
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
|
|
|
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
|
|
|
NM_002633.3(PGM1):c.409+6T>C
|
rs2100982034
|
|
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
|
|
|
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
|
|
|
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
|
|
|
NM_002633.3(PGM1):c.556+3A>G
|
|
|
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
|
|
|
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
|
|
|
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
|
|
|
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
|
|
|
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
|
|
|
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
|
|
|
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
|
|
|
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
|
|
|
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
|
|
|
NM_002633.3(PGM1):c.873+5G>T
|
|
|
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)
|
rs2100947698
|
|
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
|
|
|
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
|
|
|
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
|
|
|
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
|
|
|
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)
|
rs369939483
|
|
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys)
|
rs767978019
|
|
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg)
|
rs2123155224
|
|
NM_003859.3(DPM1):c.127A>G (p.Ile43Val)
|
rs769480044
|
|
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
|
|
|
NM_003859.3(DPM1):c.142G>A (p.Val48Met)
|
rs776470942
|
|
NM_003859.3(DPM1):c.162-3del
|
rs1568774485
|
|
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
|
|
|
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)
|
rs1040795570
|
|
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)
|
rs1040795570
|
|
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)
|
rs1986768557
|
|
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
|
|
|
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
|
|
|
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)
|
rs201392536
|
|
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)
|
rs760351795
|
|
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)
|
rs1364834319
|
|
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)
|
rs1986763754
|
|
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly)
|
rs17850343
|
|
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
|
|
|
NM_003859.3(DPM1):c.295+6T>C
|
|
|
NM_003859.3(DPM1):c.296-5T>C
|
rs1986258168
|
|
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg)
|
rs755912457
|
|
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)
|
rs1986256273
|
|
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)
|
rs2123115865
|
|
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
|
|
|
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)
|
rs2123115788
|
|
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
|
|
|
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys)
|
rs559291357
|
|
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
|
|
|
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
|
|
|
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)
|
rs752831768
|
|
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
|
|
|
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
|
|
|
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
|
|
|
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
|
|
|
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)
|
rs1225648834
|
|
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
|
|
|
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
|
|
|
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
|
|
|
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
|
|
|
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)
|
rs77532041
|
|
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
|
|
|
NM_003859.3(DPM1):c.494+9A>G
|
|
|
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)
|
rs547949792
|
|
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)
|
rs1985671191
|
|
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
|
|
|
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
|
|
|
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)
|
rs1601016907
|
|
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
|
|
|
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)
|
rs528582693
|
|
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
|
|
|
NM_003859.3(DPM1):c.617G>T (p.Gly206Val)
|
rs760063295
|
|
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)
|
rs1036628226
|
|
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
|
|
|
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
|
|
|
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)
|
rs1439856985
|
|
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)
|
rs1197456861
|
|
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)
|
rs2123061416
|
|
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)
|
rs2123061350
|
|
NM_003859.3(DPM1):c.678+15C>G
|
rs2123061176
|
|
NM_003859.3(DPM1):c.678+1G>C
|
rs1985138848
|
|
NM_003859.3(DPM1):c.678+6C>A
|
|
|
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
|
|
|
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)
|
rs1985042327
|
|
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)
|
rs2123056867
|
|
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)
|
rs1411036424
|
|
NM_003859.3(DPM1):c.706T>C (p.Tyr236His)
|
rs775589720
|
|
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
|
|
|
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg)
|
rs1986960670
|
|
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
|
|
|
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
|
|
|
NM_003863.4(DPM2):c.108_111del (p.Gln37fs)
|
rs756881158
|
|
NM_003863.4(DPM2):c.151G>A (p.Val51Ile)
|
rs1831509385
|
|
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe)
|
rs2131648142
|
|
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn)
|
rs1564141716
|
|
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro)
|
rs759597928
|
|
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
|
|
|
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys)
|
rs1588689182
|
|
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
|
|
|
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu)
|
rs1831494309
|
|
NM_003863.4(DPM2):c.3+3G>A
|
rs1403906360
|
|
NM_003863.4(DPM2):c.3+3G>T
|
rs1403906360
|
|
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp)
|
rs1224529806
|
|
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
|
|
|
NM_003863.4(DPM2):c.88C>G (p.Leu30Val)
|
rs886063483
|
|
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
|
|
|
NM_003863.4(DPM2):c.93+5G>A
|
|
|
NM_004870.4(MPDU1):c.170-1G>A
|
|
|
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
|
|
|
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr)
|
rs137983973
|
|
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
|
|
|
NM_004870.4(MPDU1):c.477del (p.Ser160fs)
|
rs765585873
|
|
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu)
|
rs2071599921
|
|
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
|
|
|
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala)
|
rs2150936424
|
|
NM_004870.4(MPDU1):c.729G>C (p.Gln243His)
|
rs144333176
|
|
NM_005216.4(DDOST):c.206_211delACCGGG
|
rs769669810
|
|
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys)
|
rs140102515
|
|
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe)
|
rs140102515
|
|
NM_005216.5(DDOST):c.-18T>G
|
rs1196325942
|
|
NM_005216.5(DDOST):c.-5G>A
|
|
|
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del)
|
rs776647294
|
|
NM_005216.5(DDOST):c.1064-2A>C
|
|
|
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
|
|
|
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
|
|
|
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
|
|
|
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
|
|
|
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
|
|
|
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
|
|
|
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
|
|
|
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
|
|
|
NM_005216.5(DDOST):c.154+5G>A
|
|
|
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly)
|
rs2154534449
|
|
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
|
|
|
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
|
|
|
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
|
|
|
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
|
|
|
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
|
|
|
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
|
|
|
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
|
|
|
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
|
|
|
NM_005216.5(DDOST):c.352+2T>C
|
|
|
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
|
|
|
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
|
|
|
NM_005216.5(DDOST):c.427C>G (p.His143Asp)
|
rs2154534284
|
|
NM_005216.5(DDOST):c.456+4A>G
|
|
|
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
|
|
|
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
|
|
|
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
|
|
|
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
|
|
|
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
|
|
|
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
|
|
|
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
|
|
|
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
|
|
|
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
|
|
|
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
|
|
|
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
|
|
|
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe)
|
rs2053339801
|
|
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del)
|
rs751872569
|
|
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu)
|
rs2154534235
|
|
NM_005216.5(DDOST):c.795-3C>G
|
|
|
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
|
|
|
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
|
|
|
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
|
|
|
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
|
|
|
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
|
|
|
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
|
|
|
NM_005216.5(DDOST):c.846del (p.Phe283fs)
|
|
|
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del)
|
rs1557571295
|
|
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
|
|
|
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu)
|
rs367807479
|
|
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
|
|
|
NM_005216.5(DDOST):c.897G>A (p.Val299=)
|
|
|
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
|
|
|
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)
|
|
|
NM_005787.6(ALG3):c.1014C>A (p.Ile338=)
|
|
|
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
|
|
|
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
|
|
|
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
|
|
|
NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)
|
|
|
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)
|
|
|
NM_005787.6(ALG3):c.11G>T (p.Gly4Val)
|
|
|
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)
|
|
|
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp)
|
rs199587005
|
|
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
|
|
|
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
|
|
|
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
|
|
|
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
|
|
|
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
|
|
|
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
|
|
|
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe)
|
rs1171334770
|
|
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)
|
|
|
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
|
|
|
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
|
|
|
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
|
|
|
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)
|
rs2108440795
|
|
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg)
|
rs1718985510
|
|
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys)
|
rs528154210
|
|
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)
|
|
|
NM_005787.6(ALG3):c.812A>G (p.His271Arg)
|
rs2108440706
|
|
NM_005787.6(ALG3):c.82G>C (p.Ala28Pro)
|
rs750342592
|
|
NM_005787.6(ALG3):c.890A>G (p.His297Arg)
|
|
|
NM_005787.6(ALG3):c.929A>G (p.His310Arg)
|
rs2108440580
|
|
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu)
|
rs1956564188
|
|
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=)
|
rs147411055
|
|
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr)
|
rs753742915
|
|
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile)
|
rs779001204
|
|
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
|
|
|
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)
|
rs911881776
|
|
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val)
|
rs753076012
|
|
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)
|
rs532258057
|
|
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
|
|
|
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
|
|
|
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
|
|
|
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val)
|
rs2135913589
|
|
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
|
|
|
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln)
|
rs2135870876
|
|
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys)
|
rs2135914600
|
|
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.197-16A>G
|
|
|
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
|
|
|
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
|
|
|
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.2055+4A>C
|
rs2135917390
|
|
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
|
|
|
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
|
|
|
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=)
|
rs1451115150
|
|
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val)
|
rs1232267114
|
|
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
|
|
|
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
|
|
|
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala)
|
rs1319344210
|
|
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)
|
rs759593402
|
|
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
|
|
|
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.731+6A>G
|
|
|
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu)
|
rs759906846
|
|
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)
|
rs371533517
|
|
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
|
|
|
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
|
|
|
NM_013339.4(ALG6):c.100A>C (p.Met34Leu)
|
rs1557585842
|
|
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
|
|
|
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
|
|
|
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
|
|
|
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
|
|
|
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
|
|
|
NM_013339.4(ALG6):c.1058+6T>C
|
rs1644562441
|
|
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
|
|
|
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
|
|
|
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val)
|
rs1260829753
|
|
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
|
|
|
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr)
|
rs952006163
|
|
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
|
|
|
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe)
|
rs764449670
|
|
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro)
|
rs1644630271
|
|
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
|
|
|
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
|
|
|
NM_013339.4(ALG6):c.1127+4A>G
|
rs2100440455
|
|
NM_013339.4(ALG6):c.1128-3C>T
|
|
|
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys)
|
rs1644631363
|
|
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
|
|
|
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)
|
rs773295759
|
|
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
|
|
|
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile)
|
rs2100440869
|
|
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
|
|
|
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)
|
rs2100404960
|
|
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile)
|
rs1318387105
|
|
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser)
|
rs2100440907
|
|
NM_013339.4(ALG6):c.1326+2dup
|
|
|
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
|
|
|
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser)
|
rs552078516
|
|
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
|
|
|
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
|
|
|
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
|
|
|
NM_013339.4(ALG6):c.1402G>C (p.Asp468His)
|
rs1644682187
|
|
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile)
|
rs1644682228
|
|
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu)
|
rs1644682228
|
|
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu)
|
rs747356051
|
|
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
|
|
|
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
|
|
|
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr)
|
rs766169939
|
|
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
|
|
|
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
|
|
|
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly)
|
rs1644682851
|
|
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
|
|
|
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
|
|
|
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
|
|
|
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg)
|
rs1330438032
|
|
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
|
|
|
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
|
|
|
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
|
|
|
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
|
|
|
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu)
|
rs2100412827
|
|
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile)
|
rs773292757
|
|
NM_013339.4(ALG6):c.235_237del (p.His79del)
|
rs1297610094
|
|
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
|
|
|
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
|
|
|
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
|
|
|
NM_013339.4(ALG6):c.258-3C>T
|
|
|
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser)
|
rs2100415389
|
|
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly)
|
rs1329673040
|
|
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
|
|
|
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
|
|
|
NM_013339.4(ALG6):c.322C>G (p.His108Asp)
|
rs2100415489
|
|
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu)
|
rs1644481094
|
|
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
|
|
|
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
|
|
|
NM_013339.4(ALG6):c.346+19G>A
|
|
|
NM_013339.4(ALG6):c.346+5A>G
|
|
|
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe)
|
rs961740482
|
|
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
|
|
|
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
|
|
|
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
|
|
|
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile)
|
rs2100417063
|
|
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr)
|
rs2100417066
|
|
NM_013339.4(ALG6):c.429G>A (p.Lys143=)
|
rs193223712
|
|
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
|
|
|
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
|
|
|
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser)
|
rs2100417551
|
|
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
|
|
|
NM_013339.4(ALG6):c.495A>G (p.Gln165=)
|
rs886046471
|
|
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
|
|
|
NM_013339.4(ALG6):c.532G>A (p.Val178Ile)
|
rs2100420805
|
|
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
|
|
|
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
|
|
|
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln)
|
rs1446317739
|
|
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg)
|
rs1644514423
|
|
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
|
|
|
NM_013339.4(ALG6):c.604A>T (p.Met202Leu)
|
rs757012140
|
|
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
|
|
|
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser)
|
rs756038267
|
|
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
|
|
|
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
|
|
|
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly)
|
rs1644514646
|
|
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
|
|
|
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
|
|
|
NM_013339.4(ALG6):c.680+4A>G
|
|
|
NM_013339.4(ALG6):c.681-18C>G
|
|
|
NM_013339.4(ALG6):c.681-5T>G
|
|
|
NM_013339.4(ALG6):c.681-6T>G
|
|
|
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
|
|
|
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
|
|
|
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
|
|
|
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
|
|
|
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
|
|
|
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
|
|
|
NM_013339.4(ALG6):c.714T>C (p.Val238=)
|
|
|
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
|
|
|
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
|
|
|
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
|
|
|
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
|
|
|
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)
|
rs886548508
|
|
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
|
|
|
NM_013339.4(ALG6):c.816+4T>G
|
|
|
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
|
|
|
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
|
|
|
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
|
|
|
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
|
|
|
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
|
|
|
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
|
|
|
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
|
|
|
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
|
|
|
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
|
|
|
NM_013339.4(ALG6):c.987G>A (p.Leu329=)
|
|
|
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe)
|
rs1554826767
|
|
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
|
rs1276394817
|
|
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr)
|
rs1554826863
|
|
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)
|
|
|
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)
|
|
|
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)
|
|
|
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
|
rs2131127590
|
|
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
|
|
|
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr)
|
rs1841688809
|
|
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)
|
|
|
NM_014908.4(DOLK):c.1089C>A (p.Ala363=)
|
|
|
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs)
|
rs2131127481
|
|
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)
|
|
|
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)
|
|
|
NM_014908.4(DOLK):c.1126G>A (p.Val376Met)
|
rs1841662463
|
|
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
|
rs775869216
|
|
NM_014908.4(DOLK):c.113T>C (p.Val38Ala)
|
|
|
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)
|
|
|
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)
|
|
|
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)
|
|
|
NM_014908.4(DOLK):c.1224C>T (p.His408=)
|
|
|
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)
|
rs1223257193
|
|
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)
|
rs1841659405
|
|
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe)
|
rs2131127216
|
|
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)
|
rs1841688531
|
|
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)
|
rs1841659135
|
|
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)
|
rs1554826737
|
|
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
|
rs1841658916
|
|
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)
|
|
|
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)
|
rs1354312358
|
|
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser)
|
rs2131127164
|
|
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
|
rs1401485925
|
|
NM_014908.4(DOLK):c.1278C>T (p.Cys426=)
|
|
|
NM_014908.4(DOLK):c.1282del (p.Gln428fs)
|
|
|
NM_014908.4(DOLK):c.1284G>C (p.Gln428His)
|
rs1458281229
|
|
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
|
rs140983401
|
|
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg)
|
rs2131127105
|
|
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)
|
|
|
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
|
rs1306365829
|
|
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
|
|
|
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile)
|
rs2131127044
|
|
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)
|
rs1287763056
|
|
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)
|
|
|
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)
|
|
|
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)
|
|
|
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)
|
|
|
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr)
|
rs2131129267
|
|
NM_014908.4(DOLK):c.137C>T (p.Ala46Val)
|
rs1554826859
|
|
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)
|
rs1199897936
|
|
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile)
|
rs749027694
|
|
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)
|
|
|
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)
|
rs750308538
|
|
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
|
rs1588261710
|
|
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)
|
|
|
NM_014908.4(DOLK):c.1429A>G (p.Met477Val)
|
rs763666338
|
|
NM_014908.4(DOLK):c.143C>T (p.Ala48Val)
|
rs1293227197
|
|
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)
|
|
|
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe)
|
rs1180339847
|
|
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser)
|
rs1588261659
|
|
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr)
|
rs2131129240
|
|
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
|
rs1354195997
|
|
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp)
|
rs2131126776
|
|
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)
|
|
|
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
|
rs777422185
|
|
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn)
|
rs1178866364
|
|
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs)
|
rs2131126691
|
|
NM_014908.4(DOLK):c.156G>C (p.Gln52His)
|
rs1339562262
|
|
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)
|
|
|
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)
|
|
|
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)
|
|
|
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del)
|
rs1841648901
|
|
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)
|
|
|
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)
|
|
|
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)
|
|
|
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)
|
|
|
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter)
|
rs876657785
|
|
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
|
|
|
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys)
|
rs2131129139
|
|
NM_014908.4(DOLK):c.206C>T (p.Ala69Val)
|
rs1554826850
|
|
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu)
|
rs761385789
|
|
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser)
|
rs565096448
|
|
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
|
rs2131129046
|
|
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
|
rs1841684950
|
|
NM_014908.4(DOLK):c.263T>C (p.Met88Thr)
|
rs1588262888
|
|
NM_014908.4(DOLK):c.26C>T (p.Ala9Val)
|
|
|
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
|
|
|
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile)
|
rs1192393606
|
|
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
|
rs1841683982
|
|
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)
|
|
|
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr)
|
rs1454594732
|
|
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)
|
|
|
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
|
rs1841683382
|
|
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser)
|
rs755188614
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys)
|
rs755188614
|
|
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)
|
|
|
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)
|
|
|
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)
|
rs2131129450
|
|
NM_014908.4(DOLK):c.355A>G (p.Met119Val)
|
rs2131128868
|
|
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)
|
|
|
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala)
|
rs1564546286
|
|
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)
|
|
|
NM_014908.4(DOLK):c.407T>C (p.Val136Ala)
|
rs1306944564
|
|
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser)
|
rs2131128759
|
|
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)
|
|
|
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)
|
|
|
NM_014908.4(DOLK):c.460A>G (p.Ile154Val)
|
rs1841679811
|
|
NM_014908.4(DOLK):c.464T>C (p.Met155Thr)
|
rs2131128665
|
|
NM_014908.4(DOLK):c.470A>C (p.His157Pro)
|
rs145050630
|
|
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)
|
|
|
NM_014908.4(DOLK):c.481G>T (p.Val161Leu)
|
rs769800558
|
|
NM_014908.4(DOLK):c.490G>A (p.Val164Met)
|
rs767933821
|
|
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)
|
|
|
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
|
rs1841678421
|
|
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)
|
|
|
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys)
|
rs2131128535
|
|
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)
|
|
|
NM_014908.4(DOLK):c.560G>A (p.Arg187His)
|
rs377658203
|
|
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile)
|
rs2131128464
|
|
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
|
|
|
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)
|
rs767965852
|
|
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)
|
|
|
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
|
|
|
NM_014908.4(DOLK):c.611T>C (p.Val204Ala)
|
rs1554826810
|
|
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro)
|
rs2131128386
|
|
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr)
|
rs2131129407
|
|
NM_014908.4(DOLK):c.656del (p.Gln219fs)
|
rs2131128315
|
|
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)
|
|
|
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)
|
rs1841674220
|
|
NM_014908.4(DOLK):c.702G>A (p.Met234Ile)
|
|
|
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
|
rs746656818
|
|
NM_014908.4(DOLK):c.731dup (p.Phe245fs)
|
rs1588262474
|
|
NM_014908.4(DOLK):c.736G>C (p.Val246Leu)
|
rs1029841868
|
|
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
|
|
|
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)
|
rs2131128090
|
|
NM_014908.4(DOLK):c.771C>G (p.Ile257Met)
|
rs147416890
|
|
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)
|
|
|
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser)
|
rs2131128060
|
|
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)
|
|
|
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp)
|
rs1253487442
|
|
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
|
rs1841670200
|
|
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del)
|
rs773789842
|
|
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)
|
|
|
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
|
|
|
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser)
|
rs1554826773
|
|
NM_014908.4(DOLK):c.941T>C (p.Val314Ala)
|
|
|
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)
|
|
|
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg)
|
rs1841666950
|
|
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)
|
|
|
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu)
|
rs2131127724
|
|
NM_014908.4(DOLK):c.96G>A (p.Leu32=)
|
|
|
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)
|
|
|
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
|
rs1841666209
|
|
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)
|
|
|
NM_014908.4(DOLK):c.993G>C (p.Gln331His)
|
rs1841665962
|
|
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup)
|
rs2142721988
|
|
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
|
|
|
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg)
|
rs2142722084
|
|
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
|
|
|
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
|
|
|
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp)
|
rs1596259672
|
|
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
|
|
|
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr)
|
rs2142725570
|
|
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
|
|
|
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly)
|
rs2142725608
|
|
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly)
|
rs1555452573
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)
|
rs398124349
|
|
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala)
|
rs1394994402
|
|
NM_019109.5(ALG1):c.1193A>G (p.His398Arg)
|
rs1292094188
|
|
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
|
|
|
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro)
|
rs2142698518
|
|
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
|
|
|
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
|
|
|
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
|
|
|
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
|
|
|
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
|
|
|
NM_019109.5(ALG1):c.1257G>C (p.Gln419His)
|
rs2142728655
|
|
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr)
|
rs2142732373
|
|
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)
|
rs758197753
|
|
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys)
|
rs540792178
|
|
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)
|
rs1047747
|
|
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
|
|
|
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg)
|
rs144047909
|
|
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
|
|
|
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
|
|
|
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
|
|
|
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
|
|
|
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
|
|
|
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr)
|
rs1957097146
|
|
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg)
|
rs752179113
|
|
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
|
|
|
NM_019109.5(ALG1):c.160C>G (p.Leu54Val)
|
rs1956824877
|
|
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
|
|
|
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
|
|
|
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
|
|
|
NM_019109.5(ALG1):c.176A>C (p.His59Pro)
|
rs773372110
|
|
NM_019109.5(ALG1):c.176A>G (p.His59Arg)
|
rs773372110
|
|
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile)
|
rs145474820
|
|
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
|
|
|
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
|
|
|
NM_019109.5(ALG1):c.200G>T (p.Gly67Val)
|
rs778626972
|
|
NM_019109.5(ALG1):c.208+19_208+20insTATG
|
rs756830715
|
|
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu)
|
rs1205327334
|
|
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
|
|
|
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
|
|
|
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
|
|
|
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
|
|
|
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
|
|
|
NM_019109.5(ALG1):c.287-7C>G
|
|
|
NM_019109.5(ALG1):c.287T>A (p.Val96Asp)
|
rs534863399
|
|
NM_019109.5(ALG1):c.287T>G (p.Val96Gly)
|
rs534863399
|
|
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
|
|
|
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala)
|
rs1252818613
|
|
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)
|
rs767455250
|
|
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg)
|
rs992880561
|
|
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
|
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
|
|
|
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe)
|
rs200094659
|
|
NM_019109.5(ALG1):c.390+3G>T
|
|
|
NM_019109.5(ALG1):c.390+5G>A
|
|
|
NM_019109.5(ALG1):c.390+6T>G
|
rs2142702237
|
|
NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
|
|
|
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
|
|
|
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
|
|
|
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser)
|
rs1956892771
|
|
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
|
|
|
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys)
|
rs2142707214
|
|
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup)
|
rs1414667961
|
|
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe)
|
rs2142707280
|
|
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg)
|
rs1192356042
|
|
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
|
|
|
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
|
|
|
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)
|
rs760240522
|
|
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp)
|
rs2142707365
|
|
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
|
|
|
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
|
|
|
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
|
|
|
NM_019109.5(ALG1):c.523G>T (p.Val175Phe)
|
rs762783729
|
|
NM_019109.5(ALG1):c.529C>G (p.Leu177Val)
|
rs200194917
|
|
NM_019109.5(ALG1):c.539+9C>G
|
|
|
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
|
|
|
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
|
|
|
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
|
|
|
NM_019109.5(ALG1):c.568C>A (p.His190Asn)
|
rs771904667
|
|
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
|
|
|
NM_019109.5(ALG1):c.583G>T (p.Val195Phe)
|
rs2142712225
|
|
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
|
|
|
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys)
|
rs1956934637
|
|
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
|
|
|
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
|
|
|
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr)
|
rs1239003111
|
|
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
|
|
|
NM_019109.5(ALG1):c.717C>T (p.Ser239=)
|
rs1956945310
|
|
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys)
|
rs1956823060
|
|
NM_019109.5(ALG1):c.740+6C>T
|
|
|
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
|
|
|
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
|
|
|
NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup)
|
rs1331794136
|
|
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln)
|
rs1308969550
|
|
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
|
|
|
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del)
|
rs1206167331
|
|
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
|
|
|
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
|
|
|
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr)
|
rs1364564952
|
|
NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)
|
|
|
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
|
|
|
NM_019109.5(ALG1):c.863-11T>C
|
|
|
NM_019109.5(ALG1):c.863-3T>A
|
|
|
NM_019109.5(ALG1):c.863-3T>C
|
rs1208866677
|
|
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly)
|
rs192564717
|
|
NM_019109.5(ALG1):c.872A>T (p.Asp291Val)
|
rs192564717
|
|
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
|
|
|
NM_019109.5(ALG1):c.877_879del (p.Ser293del)
|
rs776453756
|
|
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys)
|
rs1421613066
|
|
NM_019109.5(ALG1):c.889G>T (p.Ala297Ser)
|
rs2142716887
|
|
NM_019109.5(ALG1):c.901+5G>T
|
|
|
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln)
|
rs753600353
|
|
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu)
|
rs753600353
|
|
NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
|
|
|
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
|
|
|
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser)
|
rs373396169
|
|
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
|
|
|
NM_019109.5(ALG1):c.961+4C>G
|
rs2142718757
|
|
NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
|
|
|
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile)
|
rs145851409
|
|
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
|
|
|
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
|
|
|
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
|
|
|
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
|
|
|
NM_019109.5(ALG1):c.994C>G (p.Leu332Val)
|
rs1957007425
|
|
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
|
|
|
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
|
|
|
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
|
|
|
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
|
|
|
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
|
|
|
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
|
|
|
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
|
|
|
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
|
rs376704970
|
|
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
|
|
|
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
|
|
|
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
|
|
|
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
|
|
|
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp)
|
rs2136868764
|
|
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
|
|
|
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe)
|
rs2136868701
|
|
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu)
|
rs769413308
|
|
NM_024079.5(ALG8):c.143A>G (p.His48Arg)
|
rs1861126453
|
|
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg)
|
rs758549233
|
|
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
|
|
|
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
|
|
|
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
|
|
|
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
|
|
|
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
|
|
|
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
|
|
|
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
|
|
|
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
|
|
|
NM_024079.5(ALG8):c.478+6C>T
|
|
|
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
|
|
|
NM_024079.5(ALG8):c.517A>G (p.Met173Val)
|
rs146425128
|
|
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
|
|
|
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
|
|
|
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
|
|
|
NM_024079.5(ALG8):c.568T>G (p.Phe190Val)
|
rs1860461907
|
|
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
|
|
|
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
|
|
|
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
|
|
|
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
|
|
|
NM_024079.5(ALG8):c.674-20A>C
|
|
|
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
|
|
|
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
|
|
|
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
|
|
|
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)
|
rs1860433537
|
|
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
|
|
|
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
|
|
|
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
|
|
|
NM_024079.5(ALG8):c.899-13A>T
|
|
|
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
|
|
|
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
|
|
|
NM_024079.5(ALG8):c.96-9T>G
|
|
|
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
|
|
|
NM_024079.5(ALG8):c.982G>A (p.Val328Ile)
|
rs2136891638
|
|
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
|
|
|
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
|
|
|
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg)
|
rs2147580583
|
|
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro)
|
rs2147580574
|
|
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
|
|
|
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val)
|
rs866503885
|
|
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
|
|
|
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
|
|
|
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val)
|
rs887422058
|
|
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
|
|
|
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
|
|
|
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
|
|
|
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
|
|
|
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
|
|
|
NM_024105.4(ALG12):c.1238+5G>T
|
|
|
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
|
|
|
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
|
|
|
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
|
|
|
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
|
|
|
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
|
|
|
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile)
|
rs781494329
|
|
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
|
|
|
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
|
|
|
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
|
|
|
NM_024105.4(ALG12):c.133C>A (p.Leu45Met)
|
rs779888121
|
|
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
|
|
|
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
|
|
|
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
|
|
|
NM_024105.4(ALG12):c.1456del (p.Arg486fs)
|
rs768823564
|
|
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
|
|
|
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe)
|
rs2060527495
|
|
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
|
|
|
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
|
|
|
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
|
|
|
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
|
|
|
NM_024105.4(ALG12):c.200C>T (p.Thr67Met)
|
rs121907931
|
|
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu)
|
rs2060591785
|
|
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg)
|
rs1208318216
|
|
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
|
|
|
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
|
|
|
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp)
|
rs148343441
|
|
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
|
|
|
NM_024105.4(ALG12):c.295+6G>A
|
rs368352058
|
|
NM_024105.4(ALG12):c.295+6G>C
|
|
|
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
|
|
|
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
|
|
|
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
|
|
|
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
|
|
|
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
|
|
|
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
|
|
|
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
|
|
|
NM_024105.4(ALG12):c.468A>G (p.Val156=)
|
rs1221631800
|
|
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
|
|
|
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
|
|
|
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
|
|
|
NM_024105.4(ALG12):c.529G>A (p.Ala177Thr)
|
rs1186957751
|
|
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
|
|
|
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr)
|
rs1358548843
|
|
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
|
|
|
NM_024105.4(ALG12):c.610G>A (p.Val204Ile)
|
rs779494077
|
|
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
|
|
|
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
|
|
|
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
|
|
|
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg)
|
rs2146606588
|
|
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
|
|
|
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
|
|
|
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile)
|
rs1183282596
|
|
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro)
|
rs2146606524
|
|
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
|
|
|
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys)
|
rs143204935
|
|
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
|
|
|
NM_024105.4(ALG12):c.768+4_768+5insA
|
rs2146606463
|
|
NM_024105.4(ALG12):c.800C>T (p.Ala267Val)
|
rs1287436259
|
|
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
|
|
|
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
|
|
|
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
|
|
|
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
|
|
|
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
|
|
|
NM_024105.4(ALG12):c.841C>A (p.Leu281Met)
|
rs775415771
|
|
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp)
|
rs2147585166
|
|
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
|
|
|
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
|
|
|
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr)
|
rs2060551878
|
|
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
|
|
|
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
|
|
|
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro)
|
rs1265937339
|
|
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
|
|
|
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys)
|
rs2147584963
|
|
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu)
|
rs2147584901
|
|
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
|
|
|
NM_024105.4(ALG12):c.96A>G (p.Lys32=)
|
rs2146614770
|
|
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
|
|
|
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)
|
|
|
NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val)
|
rs769919131
|
|
NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)
|
|
|
NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)
|
|
|
NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys)
|
rs539407364
|
|
NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)
|
|
|
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)
|
rs1578206800
|
|
NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)
|
|
|
NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)
|
|
|
NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu)
|
rs1719787731
|
|
NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)
|
|
|
NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)
|
|
|
NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe)
|
rs1719953488
|
|
NM_024592.5(SRD5A3):c.697+1G>C
|
rs1719958144
|
|
NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)
|
|
|
NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys)
|
rs1204016593
|
|
NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)
|
|
|
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)
|
rs1720062980
|
|
NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu)
|
rs769885824
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
|
|
|
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
|
|
|
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
|
|
|
NM_024740.2(ALG9):c.1174-19T>G
|
|
|
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
|
|
|
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
|
|
|
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
|
|
|
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
|
|
|
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu)
|
rs929508101
|
|
NM_024740.2(ALG9):c.131+5G>A
|
rs567032424
|
|
NM_024740.2(ALG9):c.131+5G>T
|
rs567032424
|
|
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
|
|
|
NM_024740.2(ALG9):c.1324+6T>G
|
|
|
NM_024740.2(ALG9):c.1325-17A>G
|
|
|
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
|
|
|
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
|
|
|
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
|
|
|
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
|
rs782023699
|
|
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
|
|
|
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
|
|
|
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
|
|
|
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
|
|
|
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
|
|
|
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
|
|
|
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
|
|
|
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
|
|
|
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
|
|
|
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
|
|
|
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
|
|
|
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
|
|
|
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)
|
rs1555064204
|
|
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
|
|
|
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
|
|
|
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
|
|
|
NM_024740.2(ALG9):c.360T>C (p.His120=)
|
|
|
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
|
|
|
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
|
|
|
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys)
|
rs1555158969
|
|
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
|
|
|
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
|
|
|
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
|
|
|
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
|
|
|
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
|
|
|
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
|
|
|
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
|
|
|
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn)
|
rs1964247669
|
|
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)
|
|
|
NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)
|
|
|
NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)
|
|
|
NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)
|
|
|
NM_052859.4(RFT1):c.1080G>T (p.Gly360=)
|
rs1189812930
|
|
NM_052859.4(RFT1):c.1085T>C (p.Met362Thr)
|
rs1701389862
|
|
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys)
|
rs764833139
|
|
NM_052859.4(RFT1):c.10C>A (p.Gln4Lys)
|
rs773959881
|
|
NM_052859.4(RFT1):c.1102+4C>A
|
rs150695725
|
|
NM_052859.4(RFT1):c.1102+4C>T
|
rs150695725
|
|
NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys)
|
rs1701249101
|
|
NM_052859.4(RFT1):c.1135G>A (p.Val379Ile)
|
rs1364345554
|
|
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
|
|
|
NM_052859.4(RFT1):c.1156G>C (p.Gly386Arg)
|
rs2107095147
|
|
NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)
|
|
|
NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_052859.4(RFT1):c.1186A>G (p.Met396Val)
|
rs1701245763
|
|
NM_052859.4(RFT1):c.1195G>T (p.Glu399Ter)
|
rs2107094933
|
|
NM_052859.4(RFT1):c.1198del (p.Glu400fs)
|
rs748350251
|
|
NM_052859.4(RFT1):c.1208+3G>A
|
|
|
NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)
|
|
|
NM_052859.4(RFT1):c.1231del (p.Leu411fs)
|
rs771934344
|
|
NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)
|
|
|
NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)
|
|
|
NM_052859.4(RFT1):c.1271G>A (p.Arg424His)
|
|
|
NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)
|
|
|
NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)
|
|
|
NM_052859.4(RFT1):c.1316T>C (p.Met439Thr)
|
rs749046487
|
|
NM_052859.4(RFT1):c.131T>C (p.Val44Ala)
|
rs2107173212
|
|
NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)
|
|
|
NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)
|
|
|
NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)
|
|
|
NM_052859.4(RFT1):c.1399dup (p.Leu467fs)
|
rs2107071266
|
|
NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)
|
|
|
NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)
|
|
|
NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)
|
|
|
NM_052859.4(RFT1):c.1446dup (p.Ala483fs)
|
|
|
NM_052859.4(RFT1):c.1455G>A (p.Ser485=)
|
rs767866491
|
|
NM_052859.4(RFT1):c.145G>A (p.Val49Ile)
|
|
|
NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)
|
rs756497073
|
|
NM_052859.4(RFT1):c.148A>T (p.Arg50Ter)
|
rs2107173109
|
|
NM_052859.4(RFT1):c.150-1G>C
|
|
|
NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)
|
|
|
NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr)
|
rs1701003868
|
|
NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)
|
|
|
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser)
|
rs1306859696
|
|
NM_052859.4(RFT1):c.154A>C (p.Thr52Pro)
|
rs1702035840
|
|
NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)
|
|
|
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys)
|
rs764531159
|
|
NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp)
|
rs369800703
|
|
NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)
|
|
|
NM_052859.4(RFT1):c.1595G>T (p.Gly532Val)
|
rs1701001018
|
|
NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)
|
|
|
NM_052859.4(RFT1):c.173C>A (p.Thr58Asn)
|
|
|
NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)
|
|
|
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile)
|
rs1702032211
|
|
NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)
|
|
|
NM_052859.4(RFT1):c.240C>G (p.Ser80Arg)
|
rs2107168045
|
|
NM_052859.4(RFT1):c.266+1G>A
|
rs371764423
|
|
NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)
|
|
|
NM_052859.4(RFT1):c.275del (p.Leu92fs)
|
|
|
NM_052859.4(RFT1):c.292T>A (p.Leu98Ile)
|
|
|
NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)
|
|
|
NM_052859.4(RFT1):c.342TGT[1] (p.Val116del)
|
rs779809846
|
|
NM_052859.4(RFT1):c.343G>A (p.Val115Ile)
|
|
|
NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)
|
|
|
NM_052859.4(RFT1):c.34C>T (p.Arg12Trp)
|
|
|
NM_052859.4(RFT1):c.368T>C (p.Val123Ala)
|
|
|
NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)
|
|
|
NM_052859.4(RFT1):c.3G>A (p.Met1Ile)
|
rs2107183535
|
|
NM_052859.4(RFT1):c.421G>T (p.Val141Phe)
|
rs2107164186
|
|
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup)
|
rs750344787
|
|
NM_052859.4(RFT1):c.456+3C>G
|
rs1296088581
|
|
NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)
|
|
|
NM_052859.4(RFT1):c.463G>A (p.Ala155Thr)
|
|
|
NM_052859.4(RFT1):c.490A>G (p.Ser164Gly)
|
rs2107162275
|
|
NM_052859.4(RFT1):c.49G>A (p.Gly17Ser)
|
|
|
NM_052859.4(RFT1):c.49G>C (p.Gly17Arg)
|
|
|
NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)
|
|
|
NM_052859.4(RFT1):c.511G>C (p.Val171Leu)
|
|
|
NM_052859.4(RFT1):c.519G>A (p.Trp173Ter)
|
rs759320646
|
|
NM_052859.4(RFT1):c.519G>C (p.Trp173Cys)
|
|
|
NM_052859.4(RFT1):c.558G>T (p.Gln186His)
|
|
|
NM_052859.4(RFT1):c.559-13dup
|
rs1277722803
|
|
NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys)
|
|
|
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)
|
rs1575509225
|
|
NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)
|
|
|
NM_052859.4(RFT1):c.614T>G (p.Leu205Arg)
|
rs1357940149
|
|
NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)
|
|
|
NM_052859.4(RFT1):c.623C>T (p.Pro208Leu)
|
rs2107157423
|
|
NM_052859.4(RFT1):c.63+3A>G
|
|
|
NM_052859.4(RFT1):c.63+4C>G
|
rs2107183082
|
|
NM_052859.4(RFT1):c.631A>G (p.Thr211Ala)
|
|
|
NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)
|
|
|
NM_052859.4(RFT1):c.64-3T>C
|
|
|
NM_052859.4(RFT1):c.646C>T (p.Leu216Phe)
|
|
|
NM_052859.4(RFT1):c.649C>T (p.Pro217Ser)
|
rs2107157216
|
|
NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)
|
|
|
NM_052859.4(RFT1):c.662del (p.Ile221fs)
|
rs2107157163
|
|
NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)
|
|
|
NM_052859.4(RFT1):c.696+5_696+8del
|
rs759775801
|
|
NM_052859.4(RFT1):c.710G>A (p.Trp237Ter)
|
rs1408405816
|
|
NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)
|
|
|
NM_052859.4(RFT1):c.743_746del (p.Lys248fs)
|
rs773274468
|
|
NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)
|
|
|
NM_052859.4(RFT1):c.74G>T (p.Arg25Leu)
|
rs780107020
|
|
NM_052859.4(RFT1):c.760C>T (p.Gln254Ter)
|
rs185019792
|
|
NM_052859.4(RFT1):c.775+3A>G
|
|
|
NM_052859.4(RFT1):c.7A>G (p.Ser3Gly)
|
rs1201237484
|
|
NM_052859.4(RFT1):c.840A>G (p.Ile280Met)
|
|
|
NM_052859.4(RFT1):c.886A>G (p.Ile296Val)
|
|
|
NM_052859.4(RFT1):c.904A>G (p.Ile302Val)
|
|
|
NM_052859.4(RFT1):c.905del (p.Ile302fs)
|
rs2107115317
|
|
NM_052859.4(RFT1):c.946C>T (p.Leu316Phe)
|
rs2107115119
|
|
NM_052859.4(RFT1):c.957+1G>A
|
|
|
NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)
|
|
|
NM_052859.4(RFT1):c.979G>A (p.Ala327Thr)
|
rs745493847
|
|
NM_052859.4(RFT1):c.988G>C (p.Glu330Gln)
|
rs2107109292
|
|
NM_052859.4(RFT1):c.997C>T (p.Leu333Phe)
|
|
|
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
|
|
|
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
|
|
|
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
|
|
|
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)
|
rs914678907
|
|
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
|
|
|
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
|
|
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NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)
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rs1327892878
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NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
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NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
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NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
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NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
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NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
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NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
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NM_138459.5(NUS1):c.175C>T (p.Pro59Ser)
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rs764639190
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NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
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NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
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NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
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NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
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NM_138459.5(NUS1):c.197G>A (p.Arg66His)
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NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys)
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rs1562172820
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NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
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NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
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NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
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NM_138459.5(NUS1):c.214C>A (p.Pro72Thr)
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rs1460197813
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NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
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NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
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NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
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NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
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NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
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NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
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NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
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NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
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NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
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NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
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NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
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NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
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NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
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NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
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NM_138459.5(NUS1):c.299A>C (p.His100Pro)
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NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
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NM_138459.5(NUS1):c.301A>G (p.Met101Val)
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NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
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NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
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NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
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NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
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NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
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NM_138459.5(NUS1):c.346G>C (p.Asp116His)
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NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
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NM_138459.5(NUS1):c.353C>A (p.Ala118Glu)
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rs2114674826
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NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
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NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
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NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
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NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
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NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
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NM_138459.5(NUS1):c.413A>G (p.Gln138Arg)
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rs2114674884
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NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
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NM_138459.5(NUS1):c.416G>A (p.Gly139Asp)
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rs2114686687
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NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
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NM_138459.5(NUS1):c.420T>G (p.Ile140Met)
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rs1263100166
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NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
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NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
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NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
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NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
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NM_138459.5(NUS1):c.498A>T (p.Lys166Asn)
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rs1392457084
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NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
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NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
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NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
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NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
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NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
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NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
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NM_138459.5(NUS1):c.523A>G (p.Asn175Asp)
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rs28362518
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NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr)
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rs28362518
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NM_138459.5(NUS1):c.524A>G (p.Asn175Ser)
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rs1438675724
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NM_138459.5(NUS1):c.52C>G (p.Leu18Val)
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rs1772962465
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NM_138459.5(NUS1):c.540A>G (p.Gln180=)
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NM_138459.5(NUS1):c.541+5G>T
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NM_138459.5(NUS1):c.548A>G (p.Asn183Ser)
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rs2114687377
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NM_138459.5(NUS1):c.554A>T (p.His185Leu)
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NM_138459.5(NUS1):c.56A>T (p.His19Leu)
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NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
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NM_138459.5(NUS1):c.57C>G (p.His19Gln)
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NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
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NM_138459.5(NUS1):c.596A>C (p.Asp199Ala)
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rs765038821
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NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
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NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
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NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
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NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
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NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
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NM_138459.5(NUS1):c.613C>G (p.Gln205Glu)
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rs2114687441
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NM_138459.5(NUS1):c.627G>T (p.Gln209His)
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NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
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NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
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NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)
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rs375663235
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NM_138459.5(NUS1):c.671A>G (p.Asp224Gly)
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rs2114687510
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NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
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NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
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NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
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NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
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NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
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rs779757878
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NM_138459.5(NUS1):c.745A>G (p.Ser249Gly)
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rs2114693915
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NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
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NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
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NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
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NM_138459.5(NUS1):c.791+6T>C
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NM_138459.5(NUS1):c.792-3C>G
|
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NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)
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rs1772960680
|
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NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr)
|
rs1554202852
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NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
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NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
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NM_138459.5(NUS1):c.869G>A (p.Arg290His)
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rs886037858
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NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
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NM_138459.5(NUS1):c.881A>G (p.Ter294Trp)
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rs2114696027
|
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NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
|
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NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
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NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
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NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
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NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
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NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
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NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
|
rs1055439022
|
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NM_153741.2(DPM3):c.184G>C (p.Ala62Pro)
|
rs2102491677
|
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NM_153741.2(DPM3):c.185C>T (p.Ala62Val)
|
rs1553190791
|
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NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
|
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NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)
|
rs1664705696
|
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NM_153741.2(DPM3):c.215G>A (p.Arg72His)
|
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NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
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NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)
|
rs752119871
|
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NM_153741.2(DPM3):c.28G>C (p.Gly10Arg)
|
rs367584459
|
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NM_153741.2(DPM3):c.29G>A (p.Gly10Glu)
|
rs2102491894
|
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NM_153741.2(DPM3):c.44G>T (p.Gly15Val)
|
rs372215837
|
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NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
|
|
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NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)
|
rs959102245
|
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NM_178862.3(STT3B):c.1014G>T (p.Gln338His)
|
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NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)
|
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NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)
|
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NM_178862.3(STT3B):c.11C>T (p.Pro4Leu)
|
rs1250170448
|
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NM_178862.3(STT3B):c.1263T>G (p.Leu421=)
|
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|
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)
|
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NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)
|
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NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
|
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NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
|
|
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NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly)
|
rs755361919
|
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NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
|
|
|
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln)
|
rs949533229
|
|
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
|
|
|
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
|
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NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr)
|
rs2125430351
|
|
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
|
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NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
|
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NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
|
|
|
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
|
|
|
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
|
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NM_178862.3(STT3B):c.778-3T>C
|
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NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
|
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NM_178862.3(STT3B):c.887C>G (p.Thr296Ser)
|
rs375479861
|
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NM_178862.3(STT3B):c.976+5G>T
|
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|
NM_201400.4(EEF2KMT):c.*885G>A
|
rs780078713
|
|