NM_024105.4(ALG12):c.469+5G>A
|
rs375025860
|
0.00058
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
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_052859.4(RFT1):c.1133A>G (p.Tyr378Cys)
|
rs143232904
|
0.00046
|
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)
|
rs139686892
|
0.00044
|
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)
|
rs17856033
|
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_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)
|
rs200946042
|
0.00026
|
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)
|
rs200068321
|
0.00023
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
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_005216.5(DDOST):c.752T>C (p.Phe251Ser)
|
rs199782279
|
0.00014
|
NM_014908.4(DOLK):c.-194G>T
|
rs886063516
|
0.00013
|
NM_019109.5(ALG1):c.812C>T (p.Thr271Met)
|
rs368722637
|
0.00012
|
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)
|
rs569498428
|
0.00011
|
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)
|
rs201354339
|
0.00010
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala)
|
rs746099604
|
0.00009
|
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)
|
rs200452019
|
0.00009
|
NM_019109.5(ALG1):c.815G>A (p.Arg272His)
|
rs560302928
|
0.00009
|
NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
|
rs371428241
|
0.00008
|
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala)
|
rs750856311
|
0.00008
|
NM_002435.3(MPI):c.-5C>T
|
rs145533697
|
0.00008
|
NM_005787.5(ALG3):c.-26G>C
|
rs747569137
|
0.00008
|
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)
|
rs559946698
|
0.00007
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
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_000303.3(PMM2):c.256-13T>G
|
rs62031145
|
0.00006
|
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln)
|
rs138383066
|
0.00006
|
NM_002435.3(MPI):c.61A>G (p.Met21Val)
|
rs376746368
|
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.335T>C (p.Met112Thr)
|
rs150943251
|
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_024079.5(ALG8):c.-7C>T
|
rs542407081
|
0.00006
|
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)
|
rs147346291
|
0.00006
|
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His)
|
rs1195010293
|
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.1558A>G (p.Thr520Ala)
|
rs374860681
|
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_000303.3(PMM2):c.581G>A (p.Arg194Gln)
|
rs371629121
|
0.00004
|
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr)
|
rs1064796719
|
0.00004
|
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)
|
rs147817691
|
0.00004
|
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn)
|
rs200353530
|
0.00004
|
NM_019109.5(ALG1):c.539+3G>C
|
rs1040920105
|
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_024079.5(ALG8):c.337A>G (p.Met113Val)
|
rs140499974
|
0.00004
|
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser)
|
rs758154434
|
0.00004
|
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser)
|
rs972892187
|
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_019109.5(ALG1):c.29C>T (p.Ala10Val)
|
rs767455250
|
0.00003
|
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro)
|
rs777949225
|
0.00003
|
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)
|
rs776299417
|
0.00003
|
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro)
|
rs558379335
|
0.00003
|
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys)
|
rs746215829
|
0.00003
|
NM_000303.3(PMM2):c.154G>C (p.Val52Leu)
|
rs148608841
|
0.00002
|
NM_001099922.3(ALG13):c.1005+4A>G
|
rs758242204
|
0.00002
|
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)
|
rs760560180
|
0.00002
|
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr)
|
rs1194966893
|
0.00002
|
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His)
|
rs750005344
|
0.00002
|
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His)
|
rs1264248744
|
0.00002
|
NM_001099922.3(ALG13):c.834+3A>G
|
rs370066652
|
0.00002
|
NM_013339.4(ALG6):c.681-5T>C
|
rs778405436
|
0.00002
|
NM_014908.4(DOLK):c.-22G>A
|
rs754288997
|
0.00002
|
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
|
rs769241947
|
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.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.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.208+14_208+17dup
|
rs746780708
|
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.820C>T (p.Arg274Cys)
|
rs201867255
|
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_024592.5(SRD5A3):c.2T>C (p.Met1Thr)
|
rs548088851
|
0.00002
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
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.178G>T (p.Val60Leu)
|
rs759513930
|
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.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln)
|
rs1189252877
|
0.00001
|
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys)
|
rs1164687660
|
0.00001
|
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys)
|
rs764031698
|
0.00001
|
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg)
|
rs756114101
|
0.00001
|
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro)
|
rs199990990
|
0.00001
|
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr)
|
rs778099828
|
0.00001
|
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)
|
rs886042566
|
0.00001
|
NM_002435.3(MPI):c.628G>A (p.Val210Met)
|
rs781158335
|
0.00001
|
NM_002435.3(MPI):c.902A>G (p.Lys301Arg)
|
rs534508637
|
0.00001
|
NM_013339.4(ALG6):c.1366A>G (p.Met456Val)
|
rs1463890121
|
0.00001
|
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)
|
rs759636698
|
0.00001
|
NM_013339.4(ALG6):c.591A>G (p.Ile197Met)
|
rs753024606
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
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.908A>G (p.Tyr303Cys)
|
rs780974264
|
0.00001
|
NM_019109.5(ALG1):c.1293G>A (p.Ala431=)
|
rs1047714
|
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.296G>A (p.Arg99Gln)
|
rs1349600746
|
0.00001
|
NM_019109.5(ALG1):c.782C>T (p.Thr261Met)
|
rs534622519
|
0.00001
|
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)
|
rs777557874
|
0.00001
|
NM_024079.5(ALG8):c.382A>G (p.Ile128Val)
|
rs111831728
|
0.00001
|
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu)
|
rs759794733
|
0.00001
|
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)
|
rs1555122792
|
0.00001
|
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr)
|
rs541537158
|
0.00001
|
NM_052859.4(RFT1):c.63G>A (p.Gln21=)
|
rs139372284
|
0.00001
|
NM_000303.3(PMM2):c.*91C>T
|
|
|
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser)
|
rs773420873
|
|
NM_000303.3(PMM2):c.640-13C>A
|
rs372181885
|
|
NM_000303.3(PMM2):c.640-16C>G
|
rs2141051377
|
|
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)
|
rs778488908
|
|
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr)
|
rs769177253
|
|
NM_000303.3(PMM2):c.737_739del (p.Ser246del)
|
rs764817746
|
|
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg)
|
rs797044876
|
|
NM_001099922.3(ALG13):c.2458-1G>A
|
rs1008287339
|
|
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr)
|
rs1556517088
|
|
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu)
|
rs1047232159
|
|
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala)
|
rs887315764
|
|
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.373T>G (p.Cys125Gly)
|
rs1556449735
|
|
NM_001099922.3(ALG13):c.383+2885G>A
|
rs2147754268
|
|
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer)
|
rs964823190
|
|
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn)
|
rs1057522540
|
|
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn)
|
rs1939938682
|
|
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)
|
rs775191661
|
|
NM_002435.3(MPI):c.*129G>C
|
rs80226376
|
|
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)
|
rs1287763056
|
|
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
|
rs1588261710
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
|
rs746656818
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala)
|
rs1394994402
|
|
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)
|
rs758197753
|
|
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.29C>A (p.Ala10Glu)
|
rs767455250
|
|
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)
|
rs760240522
|
|
NM_019109.5(ALG1):c.835C>G (p.Leu279Val)
|
rs1057520106
|
|
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu)
|
rs753600353
|
|
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
|
rs376704970
|
|
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)
|
rs1860433537
|
|
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser)
|
rs1565349263
|
|
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)
|
rs1720062980
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_033087.4(ALG2):c.945C>T (p.Cys315=)
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rs1828729293
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