NM_002408.4(MGAT2):c.*366C>G
|
rs1011373
|
0.02852
|
NM_006416.5(SLC35A1):c.*240G>T
|
rs9450722
|
0.01462
|
NM_001382.4(DPAGT1):c.*427T>G
|
rs28990975
|
0.01379
|
NM_024592.4(SRD5A3):c.-100C>G
|
rs188248575
|
0.01067
|
NM_000303.3(PMM2):c.*1301del
|
rs142140685
|
0.00737
|
NM_006765.4(TUSC3):c.*1665T>C
|
rs562496423
|
0.00707
|
NM_002408.4(MGAT2):c.-443C>T
|
rs3007037
|
0.00589
|
NM_006765.4(TUSC3):c.*1581C>T
|
rs182976372
|
0.00571
|
NM_024740.2(ALG9):c.*2010_*2011del
|
rs534577430
|
0.00567
|
NM_006765.4(TUSC3):c.*1078C>G
|
rs146010253
|
0.00523
|
NM_024740.2(ALG9):c.*1681dup
|
rs541176886
|
0.00510
|
NM_006765.4(TUSC3):c.*2397G>A
|
rs141748006
|
0.00400
|
NM_006765.4(TUSC3):c.*1009C>A
|
rs529522962
|
0.00336
|
NM_006765.4(TUSC3):c.*1197G>A
|
rs142084453
|
0.00272
|
NM_006765.4(TUSC3):c.-82A>G
|
rs528698301
|
0.00203
|
NM_006765.4(TUSC3):c.*1191C>T
|
rs577607900
|
0.00199
|
NM_001382.3(DPAGT1):c.-349T>C
|
rs141116509
|
0.00185
|
NM_006765.3(TUSC3):c.-190C>T
|
rs573872013
|
0.00184
|
NM_006765.4(TUSC3):c.*2241T>C
|
rs149848404
|
0.00147
|
NM_153603.4(COG7):c.810+6del
|
rs150104389
|
0.00139
|
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)
|
rs150266274
|
0.00137
|
NM_002633.3(PGM1):c.*236T>C
|
rs534628770
|
0.00128
|
NM_006765.4(TUSC3):c.*1957A>G
|
rs182645260
|
0.00128
|
NM_006765.4(TUSC3):c.*1531A>G
|
rs190430215
|
0.00112
|
NM_006765.4(TUSC3):c.*1024T>C
|
rs537908016
|
0.00096
|
NM_006765.4(TUSC3):c.*589G>A
|
rs188770392
|
0.00091
|
NM_018714.2(COG1):c.-19G>C
|
rs566018587
|
0.00084
|
NM_006765.4(TUSC3):c.*2393A>G
|
rs536605918
|
0.00083
|
NM_006765.4(TUSC3):c.*732G>A
|
rs765219222
|
0.00071
|
NM_004870.3(MPDU1):c.-139G>A
|
rs551554693
|
0.00069
|
NM_006765.4(TUSC3):c.937+11G>C
|
rs371792364
|
0.00064
|
NM_024740.2(ALG9):c.*3358dup
|
rs782323400
|
0.00056
|
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)
|
rs200808372
|
0.00054
|
NM_006765.4(TUSC3):c.*1723T>G
|
rs537999024
|
0.00050
|
NM_006765.4(TUSC3):c.*98A>G
|
rs112569707
|
0.00047
|
NM_024592.5(SRD5A3):c.*2844del
|
rs886059486
|
0.00046
|
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)
|
rs140035988
|
0.00045
|
NM_006765.4(TUSC3):c.*1371T>G
|
rs749833807
|
0.00041
|
NM_020751.3(COG6):c.-21_-20insC
|
rs746938820
|
0.00041
|
NM_006765.4(TUSC3):c.*1391T>C
|
rs573563224
|
0.00040
|
NM_004870.4(MPDU1):c.*523dup
|
rs543253078
|
0.00039
|
NM_018475.5(TMEM165):c.*397G>A
|
rs534649782
|
0.00034
|
NM_006765.4(TUSC3):c.*222A>G
|
rs571116375
|
0.00031
|
NM_032382.5(COG8):c.1620A>C (p.Leu540=)
|
rs189199610
|
0.00030
|
NM_001382.4(DPAGT1):c.*265A>G
|
rs28990974
|
0.00029
|
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)
|
rs149033081
|
0.00029
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
NM_006765.4(TUSC3):c.*2183G>A
|
rs187586489
|
0.00026
|
NM_032382.5(COG8):c.*196dup
|
rs767394291
|
0.00022
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
NM_006765.4(TUSC3):c.568-15A>G
|
rs186717319
|
0.00018
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)
|
rs146262101
|
0.00016
|
NM_006765.4(TUSC3):c.*1313G>A
|
rs560586222
|
0.00014
|
NM_020751.3(COG6):c.*1443A>T
|
rs772109615
|
0.00014
|
NM_006765.4(TUSC3):c.-46G>C
|
rs749998335
|
0.00013
|
NM_001382.3(DPAGT1):c.-265C>A
|
rs886047760
|
0.00012
|
NM_001382.3(DPAGT1):c.-300C>T
|
rs79071301
|
0.00012
|
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)
|
rs150774756
|
0.00011
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
NM_006765.3(TUSC3):c.-206C>T
|
rs886062763
|
0.00011
|
NM_006765.4(TUSC3):c.*947A>G
|
rs963702307
|
0.00011
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
NM_006765.4(TUSC3):c.*2363G>T
|
rs554105159
|
0.00010
|
NM_006765.4(TUSC3):c.*763A>C
|
rs539187664
|
0.00010
|
NM_006765.4(TUSC3):c.-130C>G
|
rs886062770
|
0.00010
|
NM_004870.3(MPDU1):c.-36C>T
|
rs370389790
|
0.00009
|
NM_006765.4(TUSC3):c.*2101A>G
|
rs151122954
|
0.00009
|
NM_018714.3(COG1):c.838C>A (p.Leu280Met)
|
rs140691967
|
0.00009
|
NM_005787.6(ALG3):c.477C>T (p.Cys159=)
|
rs201087932
|
0.00008
|
NM_006765.4(TUSC3):c.*2283T>C
|
rs960356882
|
0.00008
|
NM_002633.3(PGM1):c.*72A>G
|
rs761043925
|
0.00006
|
NM_006765.3(TUSC3):c.-303C>G
|
rs886062761
|
0.00006
|
NM_006765.3(TUSC3):c.-304G>T
|
rs886062760
|
0.00006
|
NM_006765.4(TUSC3):c.*1607T>C
|
rs146317430
|
0.00006
|
NM_006765.4(TUSC3):c.*499G>A
|
rs1321556219
|
0.00006
|
NM_006765.4(TUSC3):c.-48C>T
|
rs750899051
|
0.00006
|
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)
|
rs755808199
|
0.00006
|
NM_006765.4(TUSC3):c.934C>T (p.Arg312Trp)
|
rs554205458
|
0.00006
|
NM_024740.2(ALG9):c.*1307C>T
|
rs782298169
|
0.00006
|
NM_002435.3(MPI):c.*56del
|
rs886051483
|
0.00005
|
NM_006765.4(TUSC3):c.*188C>T
|
rs923246673
|
0.00005
|
NM_024592.5(SRD5A3):c.*2277del
|
rs886059482
|
0.00005
|
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys)
|
rs199918985
|
0.00004
|
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)
|
rs200237046
|
0.00004
|
NM_006765.4(TUSC3):c.*2037G>C
|
rs775550670
|
0.00004
|
NM_006765.4(TUSC3):c.*605C>G
|
rs749903402
|
0.00004
|
NM_006765.4(TUSC3):c.852T>C (p.Ile284=)
|
rs781741877
|
0.00004
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)
|
rs200065327
|
0.00003
|
NM_006765.4(TUSC3):c.426+15C>T
|
rs574008930
|
0.00003
|
NM_006765.4(TUSC3):c.677A>G (p.Tyr226Cys)
|
rs146409575
|
0.00003
|
NM_013339.4(ALG6):c.*1385T>C
|
rs886046479
|
0.00003
|
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)
|
rs782084496
|
0.00003
|
NM_181581.3(DUS4L):c.-111+60_-111+61del
|
rs886061878
|
0.00003
|
NM_002408.4(MGAT2):c.*769G>T
|
rs537612516
|
0.00002
|
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg)
|
rs149616917
|
0.00002
|
NM_006765.4(TUSC3):c.-51G>A
|
rs779146487
|
0.00002
|
NM_018714.3(COG1):c.1011C>G (p.Thr337=)
|
rs774720405
|
0.00002
|
NM_000303.3(PMM2):c.*1219C>T
|
rs546209036
|
0.00001
|
NM_001497.4(B4GALT1):c.*2398del
|
rs886063861
|
0.00001
|
NM_001497.4(B4GALT1):c.*714G>C
|
rs886063871
|
0.00001
|
NM_002633.3(PGM1):c.*348G>A
|
rs58522038
|
0.00001
|
NM_002633.3(PGM1):c.*357A>G
|
rs886046484
|
0.00001
|
NM_002633.3(PGM1):c.783C>T (p.His261=)
|
rs886046481
|
0.00001
|
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)
|
rs778199808
|
0.00001
|
NM_006765.4(TUSC3):c.*217C>T
|
rs1201787189
|
0.00001
|
NM_006765.4(TUSC3):c.*2277A>G
|
rs936557459
|
0.00001
|
NM_006765.4(TUSC3):c.*2371C>T
|
rs1270490406
|
0.00001
|
NM_006765.4(TUSC3):c.*288G>A
|
rs781373100
|
0.00001
|
NM_006765.4(TUSC3):c.-150C>T
|
rs886062769
|
0.00001
|
NM_006765.4(TUSC3):c.17C>T (p.Ala6Val)
|
rs1211304490
|
0.00001
|
NM_006765.4(TUSC3):c.259A>G (p.Ile87Val)
|
rs759296891
|
0.00001
|
NM_006765.4(TUSC3):c.408G>A (p.Gly136=)
|
rs762831751
|
0.00001
|
NM_006765.4(TUSC3):c.843A>G (p.Ser281=)
|
rs202151515
|
0.00001
|
NM_012257.4(HBP1):c.*1087_*1088insAA
|
rs886061868
|
0.00001
|
NM_018475.4(TMEM165):c.-253C>T
|
rs886059488
|
0.00001
|
NM_020751.3(COG6):c.*205C>G
|
rs886050232
|
0.00001
|
NM_024079.5(ALG8):c.286A>T (p.Asn96Tyr)
|
rs200900718
|
0.00001
|
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala)
|
rs538716086
|
0.00001
|
NM_024105.4(ALG12):c.672G>A (p.Thr224=)
|
rs747205653
|
0.00001
|
NM_032382.5(COG8):c.690C>T (p.Gly230=)
|
rs886052252
|
0.00001
|
NM_052859.4(RFT1):c.*3342T>C
|
rs886058708
|
0.00001
|
NM_153603.4(COG7):c.2146G>A (p.Asp716Asn)
|
rs758228401
|
0.00001
|
NM_000303.2(PMM2):c.-70G>A
|
rs563744399
|
|
NM_000303.3(PMM2):c.*423G>C
|
rs886052462
|
|
NM_001413669.1(TUSC3):c.-30-83007A>G
|
rs1801621217
|
|
NM_001497.4(B4GALT1):c.*1087dup
|
rs753854896
|
|
NM_001497.4(B4GALT1):c.*1874C>T
|
rs886063865
|
|
NM_001497.4(B4GALT1):c.*2172GTT[1]
|
rs754771244
|
|
NM_001497.4(B4GALT1):c.*2172_*2176del
|
rs886063864
|
|
NM_001497.4(B4GALT1):c.*2200_*2203del
|
rs751351046
|
|
NM_001497.4(B4GALT1):c.*2718G>C
|
rs886063859
|
|
NM_001497.4(B4GALT1):c.*705dup
|
rs779761525
|
|
NM_001497.4(B4GALT1):c.*730AGAA[1]
|
rs537888935
|
|
NM_002408.4(MGAT2):c.*286_*289del
|
rs886050519
|
|
NM_002408.4(MGAT2):c.*600TGAT[1]
|
rs750394836
|
|
NM_002408.4(MGAT2):c.*666_*669del
|
rs573436485
|
|
NM_002408.4(MGAT2):c.*669del
|
rs573436485
|
|
NM_002408.4(MGAT2):c.-76GCCC[4]
|
rs886050518
|
|
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=)
|
rs563513161
|
|
NM_002633.3(PGM1):c.*231C>T
|
rs886046483
|
|
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)
|
rs148979330
|
|
NM_002633.3(PGM1):c.696T>C (p.Tyr232=)
|
rs886046480
|
|
NM_004870.3(MPDU1):c.-108G>A
|
rs766385750
|
|
NM_004870.3(MPDU1):c.-182G>C
|
rs567994442
|
|
NM_005216.4(DDOST):c.-63delG
|
rs886045873
|
|
NM_005216.4(DDOST):c.206_211delACCGGG
|
rs769669810
|
|
NM_005216.5(DDOST):c.*542TAAA[10]
|
rs78039244
|
|
NM_005216.5(DDOST):c.*542TAAA[11]
|
rs78039244
|
|
NM_005216.5(DDOST):c.*542TAAA[12]
|
rs78039244
|
|
NM_005216.5(DDOST):c.*542TAAA[13]
|
rs78039244
|
|
NM_005216.5(DDOST):c.*542TAAA[14]
|
rs78039244
|
|
NM_005216.5(DDOST):c.*542TAAA[8]
|
rs78039244
|
|
NM_005216.5(DDOST):c.*575_*577AAAT[3]A[11]
|
rs886045853
|
|
NM_005216.5(DDOST):c.*575_*577AAAT[4]A[11]
|
rs886045853
|
|
NM_005216.5(DDOST):c.*575_*577AAAT[4]A[7]
|
rs886045853
|
|
NM_005216.5(DDOST):c.*579dup
|
rs199990086
|
|
NM_006416.5(SLC35A1):c.*140AAAC[1]
|
rs886061816
|
|
NM_006416.5(SLC35A1):c.*333del
|
rs886061818
|
|
NM_006416.5(SLC35A1):c.*521GT[1]
|
rs886061819
|
|
NM_006416.5(SLC35A1):c.*525_*528dup
|
rs1554167143
|
|
NM_006765.3(TUSC3):c.-175_-174CT[1]
|
rs761637643
|
|
NM_006765.3(TUSC3):c.-191C>T
|
rs886062765
|
|
NM_006765.3(TUSC3):c.-197_-195TCT[1]
|
rs886062764
|
|
NM_006765.3(TUSC3):c.-254C>A
|
rs775641863
|
|
NM_006765.3(TUSC3):c.-289A>G
|
rs886062762
|
|
NM_006765.4(TUSC3):c.*111G>A
|
rs557579844
|
|
NM_006765.4(TUSC3):c.*128A>G
|
rs1812266668
|
|
NM_006765.4(TUSC3):c.*1737C>T
|
rs886062773
|
|
NM_006765.4(TUSC3):c.*1861A>G
|
rs1812315835
|
|
NM_006765.4(TUSC3):c.*1973T>A
|
rs1812318856
|
|
NM_006765.4(TUSC3):c.*2010dup
|
rs886062774
|
|
NM_006765.4(TUSC3):c.*2057T>C
|
rs959992574
|
|
NM_006765.4(TUSC3):c.*2131G>T
|
rs1812323628
|
|
NM_006765.4(TUSC3):c.*2146A>T
|
rs886062775
|
|
NM_006765.4(TUSC3):c.*2316A>G
|
rs1812329333
|
|
NM_006765.4(TUSC3):c.*2407G>A
|
rs888651565
|
|
NM_006765.4(TUSC3):c.*286C>G
|
rs14732
|
|
NM_006765.4(TUSC3):c.*341A>G
|
rs1812272965
|
|
NM_006765.4(TUSC3):c.*364G>C
|
rs111425809
|
|
NM_006765.4(TUSC3):c.*36T>G
|
rs1374192276
|
|
NM_006765.4(TUSC3):c.*510C>A
|
rs141126690
|
|
NM_006765.4(TUSC3):c.*566G>A
|
rs536053560
|
|
NM_006765.4(TUSC3):c.*686A>C
|
rs1812284354
|
|
NM_006765.4(TUSC3):c.*869A>C
|
rs886062772
|
|
NM_006765.4(TUSC3):c.-111C>A
|
rs1479784219
|
|
NM_006765.4(TUSC3):c.-159C>T
|
rs886062768
|
|
NM_006765.4(TUSC3):c.-167G>A
|
rs886062767
|
|
NM_006765.4(TUSC3):c.189C>G (p.Arg63=)
|
rs751317981
|
|
NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu)
|
rs1420153973
|
|
NM_006765.4(TUSC3):c.3G>A (p.Met1Ile)
|
rs886062771
|
|
NM_006765.4(TUSC3):c.414del (p.Asp138fs)
|
rs1563154271
|
|
NM_006765.4(TUSC3):c.426+13A>T
|
rs757683053
|
|
NM_006765.4(TUSC3):c.482A>G (p.Lys161Arg)
|
rs1807328725
|
|
NM_006765.4(TUSC3):c.62C>G (p.Pro21Arg)
|
rs750727769
|
|
NM_006765.4(TUSC3):c.838G>A (p.Glu280Lys)
|
rs1810684992
|
|
NM_013339.4(ALG6):c.*705del
|
rs886046475
|
|
NM_013339.4(ALG6):c.*796AT[6]
|
rs886046476
|
|
NM_018389.5(SLC35C1):c.*1583dup
|
rs561198671
|
|
NM_018389.5(SLC35C1):c.-546_-540dup
|
rs886048308
|
|
NM_018475.4(TMEM165):c.-252C>A
|
rs886059489
|
|
NM_018475.5(TMEM165):c.*568dup
|
rs886059490
|
|
NM_018714.2(COG1):c.-18G>T
|
rs751458075
|
|
NM_020751.2(COG6):c.-67A>T
|
rs548475910
|
|
NM_020751.3(COG6):c.*1438AGA[1]
|
rs886050235
|
|
NM_020751.3(COG6):c.*147dup
|
rs554269460
|
|
NM_021645.6(UTP14C):c.726A>C (p.Lys242Asn)
|
rs886050315
|
|
NM_024105.4(ALG12):c.*484dup
|
rs752077223
|
|
NM_024105.4(ALG12):c.*491G>T
|
rs886057612
|
|
NM_024592.5(SRD5A3):c.*2844_*2845del
|
rs1553883157
|
|
NM_024592.5(SRD5A3):c.*2858del
|
rs397993423
|
|
NM_024592.5(SRD5A3):c.*2858dup
|
rs397993423
|
|
NM_024592.5(SRD5A3):c.*340_*341del
|
rs886059472
|
|
NM_024592.5(SRD5A3):c.*341CA[18]
|
rs3034886
|
|
NM_024592.5(SRD5A3):c.*341CA[24]
|
rs3034886
|
|
NM_024740.2(ALG9):c.*1211AGTT[1]
|
rs782618635
|
|
NM_024740.2(ALG9):c.*1679del
|
rs150703313
|
|
NM_024740.2(ALG9):c.*1679dup
|
rs150703313
|
|
NM_024740.2(ALG9):c.*2442del
|
rs886047672
|
|
NM_024740.2(ALG9):c.*2444_*2449del
|
rs886047670
|
|
NM_024740.2(ALG9):c.*2444del
|
rs886047671
|
|
NM_024740.2(ALG9):c.*2451_*2457del
|
rs886047668
|
|
NM_024740.2(ALG9):c.*2456del
|
rs886047669
|
|
NM_024740.2(ALG9):c.*2473_*2474insT
|
rs886047666
|
|
NM_024740.2(ALG9):c.*2474_*2475insT
|
rs886047665
|
|
NM_024740.2(ALG9):c.*2479del
|
rs376955296
|
|
NM_024740.2(ALG9):c.*2480_*2481del
|
rs886047663
|
|
NM_024740.2(ALG9):c.*2480del
|
rs886047664
|
|
NM_024740.2(ALG9):c.*3437_*3440del
|
rs371625196
|
|
NM_024740.2(ALG9):c.*3954del
|
rs573760463
|
|
NM_033087.4(ALG2):c.*1256AT[2]
|
rs886063259
|
|
NM_033087.4(ALG2):c.*1470_*1472del
|
rs139943534
|
|
NM_033087.4(ALG2):c.*513dup
|
rs544873504
|
|
NM_052859.4(RFT1):c.*3053_*3055del
|
rs886058711
|
|
NM_052859.4(RFT1):c.696+5_696+8del
|
rs759775801
|
|
NM_153603.4(COG7):c.*277del
|
rs886051818
|
|
NM_153603.4(COG7):c.170-9del
|
rs71379679
|
|