|
NM_001492.6(GDF1):c.-1107C>G
|
rs3746263
|
0.71463
|
|
NM_001492.6(GDF1):c.-1089T>C
|
rs113536478
|
0.25589
|
|
NM_001492.6(GDF1):c.-422-11C>T
|
rs2075762
|
0.09802
|
|
NM_021267.5(CERS1):c.492C>T (p.Tyr164=)
|
rs45601540
|
0.00715
|
|
NM_021267.5(CERS1):c.450C>T (p.Ala150=)
|
rs201106410
|
0.00126
|
|
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)
|
rs868136098
|
0.00070
|
|
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)
|
rs1041161328
|
0.00069
|
|
NM_021267.5(CERS1):c.787G>A (p.Val263Ile)
|
rs200539084
|
0.00065
|
|
NM_001492.6(GDF1):c.-894A>G
|
rs200107216
|
0.00064
|
|
NM_021267.5(CERS1):c.898C>T (p.Leu300=)
|
rs373928623
|
0.00035
|
|
NM_021267.5(CERS1):c.178C>T (p.Leu60=)
|
rs760185006
|
0.00028
|
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
|
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser)
|
rs373056917
|
0.00021
|
|
NM_021267.5(CERS1):c.393A>G (p.Pro131=)
|
rs577485199
|
0.00020
|
|
NM_021267.5(CERS1):c.257C>T (p.Ala86Val)
|
rs374895377
|
0.00016
|
|
NM_021267.5(CERS1):c.912G>A (p.Ala304=)
|
rs369177504
|
0.00016
|
|
NM_021267.5(CERS1):c.300C>T (p.Pro100=)
|
rs376834189
|
0.00015
|
|
NM_021267.5(CERS1):c.590+14C>T
|
rs371448103
|
0.00014
|
|
NM_021267.5(CERS1):c.289G>A (p.Ala97Thr)
|
rs374076863
|
0.00013
|
|
NM_021267.5(CERS1):c.519C>A (p.Arg173=)
|
rs575712132
|
0.00013
|
|
NM_021267.5(CERS1):c.942G>A (p.Val314=)
|
rs373503454
|
0.00013
|
|
NM_021267.5(CERS1):c.911C>T (p.Ala304Val)
|
rs373927986
|
0.00012
|
|
NM_021267.5(CERS1):c.95C>T (p.Ala32Val)
|
rs1387898936
|
0.00011
|
|
NM_021267.5(CERS1):c.174C>G (p.Pro58=)
|
rs992534143
|
0.00010
|
|
NM_021267.5(CERS1):c.575C>T (p.Ser192Phe)
|
rs1009080328
|
0.00010
|
|
NM_021267.5(CERS1):c.663C>T (p.Leu221=)
|
rs535134210
|
0.00010
|
|
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr)
|
rs45524532
|
0.00009
|
|
NM_021267.5(CERS1):c.549C>T (p.His183=)
|
rs200024180
|
0.00009
|
|
NM_021267.5(CERS1):c.164T>A (p.Leu55Gln)
|
rs918114133
|
0.00008
|
|
NM_021267.5(CERS1):c.857C>T (p.Ala286Val)
|
rs559340743
|
0.00008
|
|
NM_021267.5(CERS1):c.12G>A (p.Ala4=)
|
rs1459126597
|
0.00007
|
|
NM_021267.5(CERS1):c.582C>T (p.Tyr194=)
|
rs779941388
|
0.00007
|
|
NM_021267.5(CERS1):c.708T>A (p.His236Gln)
|
rs902153714
|
0.00007
|
|
NM_021267.5(CERS1):c.1018C>G (p.Leu340Val)
|
rs774114834
|
0.00006
|
|
NM_021267.5(CERS1):c.752+9T>C
|
rs369684023
|
0.00006
|
|
NM_021267.5(CERS1):c.258G>A (p.Ala86=)
|
rs1038592004
|
0.00005
|
|
NM_021267.5(CERS1):c.66A>G (p.Leu22=)
|
rs1185015299
|
0.00005
|
|
NM_021267.5(CERS1):c.1010+19G>A
|
rs776038644
|
0.00004
|
|
NM_021267.5(CERS1):c.262C>T (p.Arg88Trp)
|
rs202181919
|
0.00004
|
|
NM_021267.5(CERS1):c.293A>G (p.Lys98Arg)
|
rs770877225
|
0.00004
|
|
NM_021267.5(CERS1):c.349G>T (p.Ala117Ser)
|
rs199956210
|
0.00004
|
|
NM_021267.5(CERS1):c.369C>T (p.Thr123=)
|
rs560072286
|
0.00004
|
|
NM_021267.5(CERS1):c.437G>A (p.Arg146Gln)
|
rs201005099
|
0.00004
|
|
NM_021267.5(CERS1):c.505A>G (p.Met169Val)
|
rs1230248222
|
0.00004
|
|
NM_021267.5(CERS1):c.591-6C>T
|
rs778912491
|
0.00004
|
|
NM_021267.5(CERS1):c.682C>T (p.Arg228Cys)
|
rs746909154
|
0.00004
|
|
NM_021267.5(CERS1):c.797C>T (p.Ala266Val)
|
rs1245703626
|
0.00004
|
|
NM_021267.5(CERS1):c.817C>T (p.Arg273Cys)
|
rs772007237
|
0.00004
|
|
NM_021267.5(CERS1):c.821C>T (p.Thr274Met)
|
rs769809173
|
0.00004
|
|
NM_021267.5(CERS1):c.989G>T (p.Ser330Ile)
|
rs376643753
|
0.00004
|
|
NM_021267.5(CERS1):c.410-10C>T
|
rs377152682
|
0.00003
|
|
NM_021267.5(CERS1):c.417G>A (p.Thr139=)
|
rs372257242
|
0.00003
|
|
NM_021267.5(CERS1):c.419C>T (p.Pro140Leu)
|
rs202201774
|
0.00003
|
|
NM_021267.5(CERS1):c.590+9A>G
|
rs200695801
|
0.00003
|
|
NM_021267.5(CERS1):c.591-3C>T
|
rs755223903
|
0.00003
|
|
NM_021267.5(CERS1):c.768C>A (p.Leu256=)
|
rs764610749
|
0.00003
|
|
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg)
|
rs778227106
|
0.00003
|
|
NM_021267.5(CERS1):c.1010+18C>T
|
rs759989196
|
0.00002
|
|
NM_021267.5(CERS1):c.18C>G (p.Pro6=)
|
rs1008352652
|
0.00002
|
|
NM_021267.5(CERS1):c.250C>A (p.Pro84Thr)
|
rs755371379
|
0.00002
|
|
NM_021267.5(CERS1):c.294G>A (p.Lys98=)
|
rs186889230
|
0.00002
|
|
NM_021267.5(CERS1):c.409+7G>T
|
rs368913904
|
0.00002
|
|
NM_021267.5(CERS1):c.410-17G>T
|
rs1050558355
|
0.00002
|
|
NM_021267.5(CERS1):c.443T>C (p.Ile148Thr)
|
rs773594278
|
0.00002
|
|
NM_021267.5(CERS1):c.476A>G (p.Tyr159Cys)
|
rs764228779
|
0.00002
|
|
NM_021267.5(CERS1):c.572T>C (p.Val191Ala)
|
rs749102523
|
0.00002
|
|
NM_021267.5(CERS1):c.82G>A (p.Gly28Ser)
|
rs1370577039
|
0.00002
|
|
NM_021267.5(CERS1):c.901-3C>A
|
rs1464119106
|
0.00002
|
|
NM_021267.5(CERS1):c.962G>A (p.Arg321Gln)
|
rs745387497
|
0.00002
|
|
NM_021267.5(CERS1):c.1008C>T (p.Ala336=)
|
rs371463042
|
0.00001
|
|
NM_021267.5(CERS1):c.1011-4C>T
|
rs2055951287
|
0.00001
|
|
NM_021267.5(CERS1):c.1030C>G (p.Leu344Val)
|
rs1488082332
|
0.00001
|
|
NM_021267.5(CERS1):c.1032G>A (p.Leu344=)
|
rs1015891977
|
0.00001
|
|
NM_021267.5(CERS1):c.158C>T (p.Ala53Val)
|
rs2056615240
|
0.00001
|
|
NM_021267.5(CERS1):c.180G>A (p.Leu60=)
|
rs1231005112
|
0.00001
|
|
NM_021267.5(CERS1):c.23C>G (p.Ala8Gly)
|
rs1568309719
|
0.00001
|
|
NM_021267.5(CERS1):c.244T>C (p.Phe82Leu)
|
rs977068016
|
0.00001
|
|
NM_021267.5(CERS1):c.252C>T (p.Pro84=)
|
rs765754803
|
0.00001
|
|
NM_021267.5(CERS1):c.263G>A (p.Arg88Gln)
|
rs370175943
|
0.00001
|
|
NM_021267.5(CERS1):c.273C>G (p.Leu91=)
|
rs768644742
|
0.00001
|
|
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn)
|
rs748527035
|
0.00001
|
|
NM_021267.5(CERS1):c.306C>T (p.Ser102=)
|
rs779359438
|
0.00001
|
|
NM_021267.5(CERS1):c.408C>T (p.Tyr136=)
|
rs779362030
|
0.00001
|
|
NM_021267.5(CERS1):c.410-6C>T
|
rs932231463
|
0.00001
|
|
NM_021267.5(CERS1):c.432G>A (p.Val144=)
|
rs1243530086
|
0.00001
|
|
NM_021267.5(CERS1):c.436C>T (p.Arg146Trp)
|
rs913223329
|
0.00001
|
|
NM_021267.5(CERS1):c.477T>C (p.Tyr159=)
|
rs1426719277
|
0.00001
|
|
NM_021267.5(CERS1):c.498G>A (p.Thr166=)
|
rs777172267
|
0.00001
|
|
NM_021267.5(CERS1):c.522G>A (p.Lys174=)
|
rs778674727
|
0.00001
|
|
NM_021267.5(CERS1):c.528G>A (p.Ser176=)
|
rs756017318
|
0.00001
|
|
NM_021267.5(CERS1):c.558T>C (p.Thr186=)
|
rs370638755
|
0.00001
|
|
NM_021267.5(CERS1):c.559C>G (p.Leu187Val)
|
rs772627907
|
0.00001
|
|
NM_021267.5(CERS1):c.571G>A (p.Val191Ile)
|
rs768421620
|
0.00001
|
|
NM_021267.5(CERS1):c.590+15G>A
|
rs760913694
|
0.00001
|
|
NM_021267.5(CERS1):c.590+3A>T
|
rs752762244
|
0.00001
|
|
NM_021267.5(CERS1):c.591-15C>G
|
rs780029381
|
0.00001
|
|
NM_021267.5(CERS1):c.627C>T (p.His209=)
|
rs774025010
|
0.00001
|
|
NM_021267.5(CERS1):c.684C>T (p.Arg228=)
|
rs761091051
|
0.00001
|
|
NM_021267.5(CERS1):c.689G>C (p.Gly230Ala)
|
rs755440386
|
0.00001
|
|
NM_021267.5(CERS1):c.68T>C (p.Val23Ala)
|
rs1359065344
|
0.00001
|
|
NM_021267.5(CERS1):c.698A>G (p.His233Arg)
|
rs2056172422
|
0.00001
|
|
NM_021267.5(CERS1):c.732C>T (p.Cys244=)
|
rs774860884
|
0.00001
|
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
|
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu)
|
rs759055660
|
0.00001
|
|
NM_021267.5(CERS1):c.780G>A (p.Pro260=)
|
rs765999204
|
0.00001
|
|
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg)
|
rs1159373768
|
0.00001
|
|
NM_021267.5(CERS1):c.798C>T (p.Ala266=)
|
rs978085666
|
0.00001
|
|
NM_021267.5(CERS1):c.818G>A (p.Arg273His)
|
rs775672669
|
0.00001
|
|
NM_021267.5(CERS1):c.830A>C (p.Asp277Ala)
|
rs1283919339
|
0.00001
|
|
NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr)
|
rs775383045
|
0.00001
|
|
NM_021267.5(CERS1):c.89C>T (p.Ala30Val)
|
rs1045601115
|
0.00001
|
|
NM_021267.5(CERS1):c.900+8G>A
|
rs768626142
|
0.00001
|
|
NM_021267.5(CERS1):c.901-4G>A
|
rs755673028
|
0.00001
|
|
NM_021267.5(CERS1):c.901-6T>A
|
rs1470403378
|
0.00001
|
|
NM_021267.5(CERS1):c.906C>T (p.Ile302=)
|
rs377364343
|
0.00001
|
|
NM_021267.5(CERS1):c.945C>T (p.His315=)
|
rs767643146
|
0.00001
|
|
NM_021267.5(CERS1):c.974C>T (p.Thr325Ile)
|
rs1696944643
|
0.00001
|
|
NC_000019.9:g.(?_18893725)_(19312528_?)del
|
|
|
|
NC_000019.9:g.(?_19004205)_(19006901_?)dup
|
|
|
|
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del)
|
rs1232905914
|
|
|
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158_Pro159insAla)
|
rs571387097
|
|
|
NM_021267.5(CERS1):c.*773G>A
|
rs1415775845
|
|
|
NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln)
|
rs761766419
|
|
|
NM_021267.5(CERS1):c.1010+10G>A
|
|
|
|
NM_021267.5(CERS1):c.1010+7G>A
|
|
|
|
NM_021267.5(CERS1):c.1011-16C>T
|
rs2145990522
|
|
|
NM_021267.5(CERS1):c.1011-2A>G
|
rs771873576
|
|
|
NM_021267.5(CERS1):c.1011-4C>G
|
|
|
|
NM_021267.5(CERS1):c.1011-5C>T
|
|
|
|
NM_021267.5(CERS1):c.1011-8del
|
rs1421634945
|
|
|
NM_021267.5(CERS1):c.102G>C (p.Ala34=)
|
|
|
|
NM_021267.5(CERS1):c.102_103insTCG (p.Ala34_Arg35insSer)
|
rs1210737907
|
|
|
NM_021267.5(CERS1):c.1035G>A (p.Val345=)
|
rs749025315
|
|
|
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys)
|
|
|
|
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)
|
|
|
|
NM_021267.5(CERS1):c.123C>G (p.Gly41=)
|
rs2146084585
|
|
|
NM_021267.5(CERS1):c.133G>C (p.Ala45Pro)
|
rs2146084497
|
|
|
NM_021267.5(CERS1):c.148G>C (p.Ala50Pro)
|
|
|
|
NM_021267.5(CERS1):c.148G>T (p.Ala50Ser)
|
|
|
|
NM_021267.5(CERS1):c.156C>T (p.His52=)
|
rs2146084390
|
|
|
NM_021267.5(CERS1):c.158C>G (p.Ala53Gly)
|
rs2056615240
|
|
|
NM_021267.5(CERS1):c.15G>T (p.Gly5=)
|
|
|
|
NM_021267.5(CERS1):c.171G>T (p.Pro57=)
|
rs1165273715
|
|
|
NM_021267.5(CERS1):c.173C>T (p.Pro58Leu)
|
rs2056614649
|
|
|
NM_021267.5(CERS1):c.177G>C (p.Glu59Asp)
|
rs2056614444
|
|
|
NM_021267.5(CERS1):c.178C>G (p.Leu60Val)
|
rs760185006
|
|
|
NM_021267.5(CERS1):c.17C>G (p.Pro6Arg)
|
|
|
|
NM_021267.5(CERS1):c.181C>A (p.Leu61Met)
|
rs1330389032
|
|
|
NM_021267.5(CERS1):c.182T>C (p.Leu61Pro)
|
rs2146084156
|
|
|
NM_021267.5(CERS1):c.18_29del (p.3AAGP[1])
|
rs1026938291
|
|
|
NM_021267.5(CERS1):c.18_29dup (p.Pro10_Thr11insAlaAlaGlyPro)
|
rs1026938291
|
|
|
NM_021267.5(CERS1):c.192G>T (p.Ala64=)
|
|
|
|
NM_021267.5(CERS1):c.195C>T (p.Leu65=)
|
|
|
|
NM_021267.5(CERS1):c.198C>G (p.Gly66=)
|
|
|
|
NM_021267.5(CERS1):c.211A>G (p.Thr71Ala)
|
rs1427120932
|
|
|
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Leu73_Arg74insGlyTrpThrAlaLeu)
|
rs2056612675
|
|
|
NM_021267.5(CERS1):c.222C>G (p.Arg74=)
|
rs1601197228
|
|
|
NM_021267.5(CERS1):c.234T>A (p.Thr78=)
|
|
|
|
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln)
|
rs1601197103
|
|
|
NM_021267.5(CERS1):c.249+12C>T
|
|
|
|
NM_021267.5(CERS1):c.249+14G>T
|
|
|
|
NM_021267.5(CERS1):c.249+19C>T
|
|
|
|
NM_021267.5(CERS1):c.249+7G>A
|
|
|
|
NM_021267.5(CERS1):c.250-15T>C
|
|
|
|
NM_021267.5(CERS1):c.250-20G>T
|
|
|
|
NM_021267.5(CERS1):c.250-4A>G
|
|
|
|
NM_021267.5(CERS1):c.264G>C (p.Arg88=)
|
rs377215717
|
|
|
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter)
|
rs561672108
|
|
|
NM_021267.5(CERS1):c.288C>T (p.Ala96=)
|
|
|
|
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr)
|
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NM_021267.5(CERS1):c.307G>T (p.Ala103Ser)
|
rs755528875
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NM_021267.5(CERS1):c.30G>A (p.Pro10=)
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NM_021267.5(CERS1):c.30_38del (p.Thr11_Pro13del)
|
rs2056619121
|
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NM_021267.5(CERS1):c.312del (p.Ala103_Trp104insTer)
|
rs2146074561
|
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NM_021267.5(CERS1):c.319C>G (p.Leu107Val)
|
rs1039358825
|
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NM_021267.5(CERS1):c.350C>T (p.Ala117Val)
|
rs2146074403
|
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NM_021267.5(CERS1):c.375C>T (p.Tyr125=)
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NM_021267.5(CERS1):c.37C>A (p.Pro13Thr)
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NM_021267.5(CERS1):c.387T>C (p.His129=)
|
rs2146074202
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NM_021267.5(CERS1):c.398C>T (p.Ser133Phe)
|
rs1555707050
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NM_021267.5(CERS1):c.39C>G (p.Pro13=)
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NM_021267.5(CERS1):c.402C>A (p.Val134=)
|
rs1203214467
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NM_021267.5(CERS1):c.402C>T (p.Val134=)
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NM_021267.5(CERS1):c.409+9C>T
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NM_021267.5(CERS1):c.410-20_410-19del
|
rs753725560
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NM_021267.5(CERS1):c.420G>A (p.Pro140=)
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NM_021267.5(CERS1):c.420G>C (p.Pro140=)
|
rs777354771
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NM_021267.5(CERS1):c.425T>A (p.Met142Lys)
|
rs1601173083
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NM_021267.5(CERS1):c.429A>C (p.Ala143=)
|
rs200107216
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NM_021267.5(CERS1):c.440A>G (p.Asp147Gly)
|
rs2056291546
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NM_021267.5(CERS1):c.45C>T (p.Pro15=)
|
rs2146085011
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NM_021267.5(CERS1):c.46A>G (p.Met16Val)
|
rs2146085001
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NM_021267.5(CERS1):c.470G>A (p.Ser157Asn)
|
rs2146033428
|
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NM_021267.5(CERS1):c.506T>C (p.Met169Thr)
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NM_021267.5(CERS1):c.50C>T (p.Pro17Leu)
|
rs2056618624
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NM_021267.5(CERS1):c.511A>G (p.Thr171Ala)
|
rs1295251261
|
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NM_021267.5(CERS1):c.518G>A (p.Arg173His)
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NM_021267.5(CERS1):c.527C>G (p.Ser176Trp)
|
rs555889038
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NM_021267.5(CERS1):c.531G>A (p.Val177=)
|
rs542208205
|
|
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NM_021267.5(CERS1):c.534C>G (p.Val178=)
|
rs1601172670
|
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NM_021267.5(CERS1):c.540G>T (p.Leu180=)
|
rs763116442
|
|
|
NM_021267.5(CERS1):c.549C>G (p.His183Gln)
|
rs200024180
|
|
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NM_021267.5(CERS1):c.550G>A (p.Val184Met)
|
rs374308521
|
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NM_021267.5(CERS1):c.550G>T (p.Val184Leu)
|
rs374308521
|
|
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NM_021267.5(CERS1):c.557C>T (p.Thr186Ile)
|
rs1601172583
|
|
|
NM_021267.5(CERS1):c.567C>T (p.Leu189=)
|
rs2146032932
|
|
|
NM_021267.5(CERS1):c.570C>T (p.Ile190=)
|
rs778764321
|
|
|
NM_021267.5(CERS1):c.579C>T (p.Ser193=)
|
|
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NM_021267.5(CERS1):c.586T>A (p.Phe196Ile)
|
|
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NM_021267.5(CERS1):c.590+11G>C
|
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NM_021267.5(CERS1):c.590+14C>G
|
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NM_021267.5(CERS1):c.590G>A (p.Arg197Gln)
|
rs758556990
|
|
|
NM_021267.5(CERS1):c.591-10G>T
|
|
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NM_021267.5(CERS1):c.591-15C>T
|
rs780029381
|
|
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NM_021267.5(CERS1):c.591-3del
|
|
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NM_021267.5(CERS1):c.591-8T>A
|
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NM_021267.5(CERS1):c.594C>T (p.Tyr198=)
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NM_021267.5(CERS1):c.5CGG[4] (p.Ala4_Gly5insAla)
|
rs996708246
|
|
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NM_021267.5(CERS1):c.608T>C (p.Ile203Thr)
|
rs1314252199
|
|
|
NM_021267.5(CERS1):c.610C>G (p.Leu204Val)
|
rs866186539
|
|
|
NM_021267.5(CERS1):c.630T>C (p.Asp210=)
|
|
|
|
NM_021267.5(CERS1):c.634A>G (p.Ser212Gly)
|
|
|
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NM_021267.5(CERS1):c.637G>A (p.Asp213Asn)
|
rs2146018809
|
|
|
NM_021267.5(CERS1):c.667A>G (p.Ile223Val)
|
|
|
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NM_021267.5(CERS1):c.66A>C (p.Leu22=)
|
rs1185015299
|
|
|
NM_021267.5(CERS1):c.683G>A (p.Arg228His)
|
rs777656031
|
|
|
NM_021267.5(CERS1):c.687C>T (p.Gly229=)
|
|
|
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NM_021267.5(CERS1):c.688G>A (p.Gly230Ser)
|
rs935097145
|
|
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NM_021267.5(CERS1):c.6G>T (p.Ala2=)
|
|
|
|
NM_021267.5(CERS1):c.700C>G (p.Arg234Gly)
|
rs767727206
|
|
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NM_021267.5(CERS1):c.701G>A (p.Arg234Gln)
|
rs369297915
|
|
|
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu)
|
rs369297915
|
|
|
NM_021267.5(CERS1):c.702G>A (p.Arg234=)
|
rs2146018471
|
|
|
NM_021267.5(CERS1):c.709G>A (p.Ala237Thr)
|
rs368637790
|
|
|
NM_021267.5(CERS1):c.709G>T (p.Ala237Ser)
|
rs368637790
|
|
|
NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu)
|
rs2146018425
|
|
|
NM_021267.5(CERS1):c.717A>G (p.Ala239=)
|
rs2056171735
|
|
|
NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro)
|
rs2146084865
|
|
|
NM_021267.5(CERS1):c.725T>C (p.Leu242Ser)
|
rs1601165243
|
|
|
NM_021267.5(CERS1):c.738C>G (p.Ser246Arg)
|
rs2056170861
|
|
|
NM_021267.5(CERS1):c.742G>A (p.Gly248Ser)
|
rs925482243
|
|
|
NM_021267.5(CERS1):c.74G>A (p.Arg25His)
|
rs2056617983
|
|
|
NM_021267.5(CERS1):c.750C>T (p.Ser250=)
|
rs2146018260
|
|
|
NM_021267.5(CERS1):c.753-10C>G
|
|
|
|
NM_021267.5(CERS1):c.753-17G>A
|
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NM_021267.5(CERS1):c.753-18T>G
|
|
|
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NM_021267.5(CERS1):c.753-3C>A
|
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NM_021267.5(CERS1):c.753-4G>A
|
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|
|
NM_021267.5(CERS1):c.780G>T (p.Pro260=)
|
rs765999204
|
|
|
NM_021267.5(CERS1):c.78C>T (p.Gly26=)
|
|
|
|
NM_021267.5(CERS1):c.790C>T (p.Leu264=)
|
rs2146013191
|
|
|
NM_021267.5(CERS1):c.805C>T (p.His269Tyr)
|
|
|
|
NM_021267.5(CERS1):c.816G>A (p.Leu272=)
|
rs2146013036
|
|
|
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys)
|
|
|
|
NM_021267.5(CERS1):c.834C>T (p.Ile278=)
|
rs781327266
|
|
|
NM_021267.5(CERS1):c.835C>A (p.Pro279Thr)
|
rs368072339
|
|
|
NM_021267.5(CERS1):c.835C>G (p.Pro279Ala)
|
rs368072339
|
|
|
NM_021267.5(CERS1):c.840C>T (p.Phe280=)
|
|
|
|
NM_021267.5(CERS1):c.846C>T (p.Phe282=)
|
|
|
|
NM_021267.5(CERS1):c.851T>C (p.Phe284Ser)
|
rs1568297877
|
|
|
NM_021267.5(CERS1):c.858G>A (p.Ala286=)
|
|
|
|
NM_021267.5(CERS1):c.865C>T (p.Leu289=)
|
|
|
|
NM_021267.5(CERS1):c.873C>G (p.Leu291=)
|
rs750237588
|
|
|
NM_021267.5(CERS1):c.876C>G (p.Thr292=)
|
rs1047604923
|
|
|
NM_021267.5(CERS1):c.87C>G (p.Ser29Arg)
|
rs1275370347
|
|
|
NM_021267.5(CERS1):c.900+11C>T
|
|
|
|
NM_021267.5(CERS1):c.900+13C>T
|
|
|
|
NM_021267.5(CERS1):c.900+14G>A
|
|
|
|
NM_021267.5(CERS1):c.900+20C>T
|
rs1296690347
|
|
|
NM_021267.5(CERS1):c.900+7C>T
|
|
|
|
NM_021267.5(CERS1):c.901-17C>G
|
|
|
|
NM_021267.5(CERS1):c.901-8T>C
|
|
|
|
NM_021267.5(CERS1):c.903C>A (p.Tyr301Ter)
|
rs1601162007
|
|
|
NM_021267.5(CERS1):c.924G>A (p.Lys308=)
|
|
|
|
NM_021267.5(CERS1):c.940G>T (p.Val314Leu)
|
|
|
|
NM_021267.5(CERS1):c.945C>G (p.His315Gln)
|
rs767643146
|
|
|
NM_021267.5(CERS1):c.951G>A (p.Leu317=)
|
|
|
|
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn)
|
rs369933386
|
|
|
NM_021267.5(CERS1):c.958C>T (p.Leu320=)
|
rs1260273077
|
|
|
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp)
|
rs770285954
|
|
|
NM_021267.5(CERS1):c.978C>A (p.Ala326=)
|
rs530273200
|
|
|
NM_021267.5(CERS1):c.978C>T (p.Ala326=)
|
|
|
|
NM_021267.5(CERS1):c.984C>G (p.Ala328=)
|
|
|
|
NM_021267.5(CERS1):c.990C>T (p.Ser330=)
|
rs865981359
|
|
|
NM_021267.5(CERS1):c.996G>A (p.Lys332=)
|
|
|
|
NM_021267.5(CERS1):c.999C>T (p.Pro333=)
|
rs2146010687
|
|
|
NM_021267.5(CERS1):c.9G>A (p.Ala3=)
|
rs1310539014
|
|