NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)
|
rs2297995
|
0.57826
|
NM_024884.3(L2HGDH):c.703+12T>C
|
rs12433038
|
0.50530
|
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=)
|
rs72683923
|
0.01007
|
NM_024884.3(L2HGDH):c.738+15G>A
|
rs73275195
|
0.00809
|
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
|
rs115954396
|
0.00315
|
NM_024884.3(L2HGDH):c.408+14T>C
|
rs77736285
|
0.00215
|
NM_024884.3(L2HGDH):c.1064+5C>T
|
rs77236437
|
0.00130
|
NM_024884.3(L2HGDH):c.510G>A (p.Glu170=)
|
rs151305613
|
0.00106
|
NM_024884.3(L2HGDH):c.409-4G>T
|
rs767524925
|
0.00072
|
NM_024884.3(L2HGDH):c.756T>C (p.Cys252=)
|
rs141562044
|
0.00060
|
NM_024884.3(L2HGDH):c.830G>A (p.Arg277Gln)
|
rs147866347
|
0.00030
|
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)
|
rs150157112
|
0.00021
|
NM_024884.3(L2HGDH):c.764T>C (p.Val255Ala)
|
rs376132802
|
0.00021
|
NM_024884.3(L2HGDH):c.1269A>G (p.Ala423=)
|
rs369101323
|
0.00018
|
NM_024884.3(L2HGDH):c.663T>C (p.Gly221=)
|
rs201951588
|
0.00017
|
NM_024884.3(L2HGDH):c.1376A>G (p.Gln459Arg)
|
rs375890787
|
0.00015
|
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp)
|
rs368140834
|
0.00013
|
NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys)
|
rs149220807
|
0.00012
|
NM_024884.3(L2HGDH):c.1155T>G (p.Leu385=)
|
rs141715606
|
0.00010
|
NM_024884.3(L2HGDH):c.246G>A (p.Glu82=)
|
rs138070052
|
0.00010
|
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val)
|
rs373172891
|
0.00009
|
NM_024884.3(L2HGDH):c.1353A>G (p.Gly451=)
|
rs192927318
|
0.00007
|
NM_024884.3(L2HGDH):c.275A>G (p.His92Arg)
|
rs140209047
|
0.00006
|
NM_024884.3(L2HGDH):c.479G>A (p.Gly160Asp)
|
rs761645660
|
0.00006
|
NM_024884.3(L2HGDH):c.152T>C (p.Ile51Thr)
|
rs760247218
|
0.00005
|
NM_024884.3(L2HGDH):c.289A>T (p.Ile97Leu)
|
rs138626765
|
0.00005
|
NM_024884.3(L2HGDH):c.533A>T (p.Tyr178Phe)
|
rs770542189
|
0.00005
|
NM_024884.3(L2HGDH):c.547A>G (p.Met183Val)
|
rs540187537
|
0.00005
|
NM_024884.3(L2HGDH):c.1312G>A (p.Ala438Thr)
|
rs777120544
|
0.00004
|
NM_024884.3(L2HGDH):c.738+5A>C
|
rs749417245
|
0.00004
|
NM_024884.3(L2HGDH):c.852T>C (p.Asp284=)
|
rs200003497
|
0.00004
|
NM_024884.3(L2HGDH):c.919C>T (p.Arg307Trp)
|
rs750803606
|
0.00004
|
NM_024884.3(L2HGDH):c.1047G>A (p.Met349Ile)
|
rs746089124
|
0.00003
|
NM_024884.3(L2HGDH):c.720T>C (p.Ile240=)
|
rs111946925
|
0.00003
|
NM_024884.3(L2HGDH):c.845G>A (p.Arg282Gln)
|
rs765312282
|
0.00003
|
NM_024884.3(L2HGDH):c.987A>G (p.Ala329=)
|
rs146196275
|
0.00003
|
NM_024884.3(L2HGDH):c.1032T>G (p.Ser344Arg)
|
rs1273518496
|
0.00002
|
NM_024884.3(L2HGDH):c.1372C>A (p.Gln458Lys)
|
rs754748944
|
0.00002
|
NM_024884.3(L2HGDH):c.531A>G (p.Pro177=)
|
rs1566533666
|
0.00002
|
NM_024884.3(L2HGDH):c.623A>G (p.Glu208Gly)
|
rs375493375
|
0.00002
|
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)
|
rs564306903
|
0.00002
|
NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln)
|
rs767037296
|
0.00002
|
NM_024884.3(L2HGDH):c.949C>A (p.Pro317Thr)
|
rs762791811
|
0.00002
|
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)
|
rs387907013
|
0.00001
|
NM_024884.3(L2HGDH):c.1197-20C>T
|
rs762276542
|
0.00001
|
NM_024884.3(L2HGDH):c.160G>A (p.Val54Ile)
|
rs767231867
|
0.00001
|
NM_024884.3(L2HGDH):c.208C>T (p.Arg70Ter)
|
rs937345512
|
0.00001
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
NM_024884.3(L2HGDH):c.284G>A (p.Gly95Asp)
|
rs1227367592
|
0.00001
|
NM_024884.3(L2HGDH):c.293A>G (p.His98Arg)
|
rs267607206
|
0.00001
|
NM_024884.3(L2HGDH):c.399G>A (p.Gln133=)
|
rs1198087421
|
0.00001
|
NM_024884.3(L2HGDH):c.409-20T>C
|
rs200340479
|
0.00001
|
NM_024884.3(L2HGDH):c.418G>C (p.Ala140Pro)
|
rs759631551
|
0.00001
|
NM_024884.3(L2HGDH):c.486G>A (p.Pro162=)
|
rs201124642
|
0.00001
|
NM_024884.3(L2HGDH):c.530C>T (p.Pro177Leu)
|
rs375943748
|
0.00001
|
NM_024884.3(L2HGDH):c.600G>A (p.Leu200=)
|
rs748499389
|
0.00001
|
NM_024884.3(L2HGDH):c.739-5A>G
|
rs1368025048
|
0.00001
|
NM_024884.3(L2HGDH):c.816C>T (p.Cys272=)
|
rs927773441
|
0.00001
|
NM_024884.3(L2HGDH):c.829C>T (p.Arg277Ter)
|
rs752025180
|
0.00001
|
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)
|
rs118204020
|
0.00001
|
NM_024884.3(L2HGDH):c.907-13G>A
|
rs746609687
|
0.00001
|
NC_000014.8:g.(?_50750569)_(50750771_?)del
|
|
|
NC_000014.8:g.(?_50760813)_(50768906_?)del
|
|
|
NC_000014.8:g.(?_50768715)_(50778868_?)dup
|
|
|
NC_000014.8:g.(?_50778709)_(50778888_?)del
|
|
|
NC_000014.9:g.(?_50267733)_(50269350_?)del
|
|
|
NM_024884.3(L2HGDH):c.1006G>A (p.Glu336Lys)
|
|
|
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)
|
rs1555328749
|
|
NM_024884.3(L2HGDH):c.1018C>T (p.Pro340Ser)
|
|
|
NM_024884.3(L2HGDH):c.1024G>A (p.Asp342Asn)
|
|
|
NM_024884.3(L2HGDH):c.1031G>A (p.Ser344Asn)
|
|
|
NM_024884.3(L2HGDH):c.1064+13_1064+16del
|
|
|
NM_024884.3(L2HGDH):c.1064+1G>A
|
|
|
NM_024884.3(L2HGDH):c.1065-13_1196+207del
|
rs1889265791
|
|
NM_024884.3(L2HGDH):c.1065-13dup
|
rs780995124
|
|
NM_024884.3(L2HGDH):c.1065-14T>G
|
|
|
NM_024884.3(L2HGDH):c.1065-14_1065-13del
|
rs780995124
|
|
NM_024884.3(L2HGDH):c.1065-2A>G
|
|
|
NM_024884.3(L2HGDH):c.1081del (p.Ala361fs)
|
|
|
NM_024884.3(L2HGDH):c.1082C>A (p.Ala361Glu)
|
|
|
NM_024884.3(L2HGDH):c.1099T>C (p.Tyr367His)
|
rs1222573122
|
|
NM_024884.3(L2HGDH):c.1115del (p.Met372fs)
|
rs786200869
|
|
NM_024884.3(L2HGDH):c.1118A>G (p.Tyr373Cys)
|
|
|
NM_024884.3(L2HGDH):c.1130T>C (p.Phe377Ser)
|
|
|
NM_024884.3(L2HGDH):c.1143A>G (p.Thr381=)
|
|
|
NM_024884.3(L2HGDH):c.1153C>T (p.Leu385Phe)
|
rs2139970112
|
|
NM_024884.3(L2HGDH):c.1187A>G (p.Asp396Gly)
|
rs1426651193
|
|
NM_024884.3(L2HGDH):c.1196+20A>C
|
|
|
NM_024884.3(L2HGDH):c.1197-17A>T
|
|
|
NM_024884.3(L2HGDH):c.1199G>A (p.Gly400Asp)
|
rs2139922983
|
|
NM_024884.3(L2HGDH):c.1200C>T (p.Gly400=)
|
|
|
NM_024884.3(L2HGDH):c.1210G>C (p.Val404Leu)
|
rs2139922904
|
|
NM_024884.3(L2HGDH):c.1213A>G (p.Arg405Gly)
|
rs1888059303
|
|
NM_024884.3(L2HGDH):c.1230T>C (p.Asp410=)
|
|
|
NM_024884.3(L2HGDH):c.1258G>A (p.Val420Ile)
|
|
|
NM_024884.3(L2HGDH):c.1267G>A (p.Ala423Thr)
|
rs1888055860
|
|
NM_024884.3(L2HGDH):c.1271G>A (p.Gly424Glu)
|
rs1888055214
|
|
NM_024884.3(L2HGDH):c.1276G>A (p.Gly426Arg)
|
|
|
NM_024884.3(L2HGDH):c.1285G>A (p.Gly429Arg)
|
rs751508205
|
|
NM_024884.3(L2HGDH):c.1300C>G (p.His434Asp)
|
|
|
NM_024884.3(L2HGDH):c.1322C>T (p.Pro441Leu)
|
|
|
NM_024884.3(L2HGDH):c.1323del (p.Ala442fs)
|
rs2139922335
|
|
NM_024884.3(L2HGDH):c.1339A>G (p.Ile447Val)
|
|
|
NM_024884.3(L2HGDH):c.1342G>C (p.Ala448Pro)
|
|
|
NM_024884.3(L2HGDH):c.1379G>T (p.Arg460Ile)
|
|
|
NM_024884.3(L2HGDH):c.1383T>C (p.Phe461=)
|
rs2139922124
|
|
NM_024884.3(L2HGDH):c.140+726del
|
rs2139242065
|
|
NM_024884.3(L2HGDH):c.141-16T>A
|
|
|
NM_024884.3(L2HGDH):c.141-20A>C
|
|
|
NM_024884.3(L2HGDH):c.147T>G (p.Phe49Leu)
|
|
|
NM_024884.3(L2HGDH):c.164G>A (p.Gly55Asp)
|
rs118204021
|
|
NM_024884.3(L2HGDH):c.166G>A (p.Gly56Ser)
|
rs1193487271
|
|
NM_024884.3(L2HGDH):c.167G>A (p.Gly56Asp)
|
rs2139215771
|
|
NM_024884.3(L2HGDH):c.168C>T (p.Gly56=)
|
|
|
NM_024884.3(L2HGDH):c.178G>A (p.Gly60Arg)
|
|
|
NM_024884.3(L2HGDH):c.184G>A (p.Ala62Thr)
|
|
|
NM_024884.3(L2HGDH):c.190G>C (p.Ala64Pro)
|
|
|
NM_024884.3(L2HGDH):c.207G>C (p.Leu69=)
|
|
|
NM_024884.3(L2HGDH):c.216A>G (p.Pro72=)
|
rs2139215566
|
|
NM_024884.3(L2HGDH):c.226A>G (p.Ile76Val)
|
|
|
NM_024884.3(L2HGDH):c.241A>G (p.Lys81Glu)
|
|
|
NM_024884.3(L2HGDH):c.256+2T>A
|
|
|
NM_024884.3(L2HGDH):c.256+3A>G
|
|
|
NM_024884.3(L2HGDH):c.257-9G>C
|
|
|
NM_024884.3(L2HGDH):c.258T>A (p.Ala86=)
|
rs1020944884
|
|
NM_024884.3(L2HGDH):c.262C>T (p.His88Tyr)
|
rs2030450370
|
|
NM_024884.3(L2HGDH):c.264C>T (p.His88=)
|
|
|
NM_024884.3(L2HGDH):c.274C>T (p.His92Tyr)
|
rs1011866950
|
|
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=)
|
rs59390116
|
|
NM_024884.3(L2HGDH):c.339T>A (p.Cys113Ter)
|
rs2030444679
|
|
NM_024884.3(L2HGDH):c.368A>G (p.Tyr123Cys)
|
|
|
NM_024884.3(L2HGDH):c.378A>G (p.Gln126=)
|
|
|
NM_024884.3(L2HGDH):c.405C>G (p.Gly135=)
|
|
|
NM_024884.3(L2HGDH):c.408+13del
|
|
|
NM_024884.3(L2HGDH):c.408+15T>C
|
|
|
NM_024884.3(L2HGDH):c.408+1G>C
|
rs2030438427
|
|
NM_024884.3(L2HGDH):c.408+7C>T
|
|
|
NM_024884.3(L2HGDH):c.409-15dup
|
rs368650202
|
|
NM_024884.3(L2HGDH):c.409-5del
|
rs368650202
|
|
NM_024884.3(L2HGDH):c.433G>A (p.Glu145Lys)
|
rs1403658578
|
|
NM_024884.3(L2HGDH):c.446T>G (p.Leu149Arg)
|
|
|
NM_024884.3(L2HGDH):c.453C>A (p.Ala151=)
|
rs2029899900
|
|
NM_024884.3(L2HGDH):c.465del (p.Gly156fs)
|
rs797045678
|
|
NM_024884.3(L2HGDH):c.477T>G (p.Asn159Lys)
|
rs2139192896
|
|
NM_024884.3(L2HGDH):c.485C>T (p.Pro162Leu)
|
|
|
NM_024884.3(L2HGDH):c.498G>C (p.Leu166=)
|
|
|
NM_024884.3(L2HGDH):c.522G>A (p.Lys174=)
|
|
|
NM_024884.3(L2HGDH):c.530_533delinsATT (p.Pro177fs)
|
|
|
NM_024884.3(L2HGDH):c.537T>C (p.Cys179=)
|
|
|
NM_024884.3(L2HGDH):c.540+19G>A
|
|
|
NM_024884.3(L2HGDH):c.540+20A>G
|
|
|
NM_024884.3(L2HGDH):c.541-12A>C
|
|
|
NM_024884.3(L2HGDH):c.574A>G (p.Ile192Val)
|
rs755942764
|
|
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys)
|
rs887386390
|
|
NM_024884.3(L2HGDH):c.587G>C (p.Arg196Pro)
|
rs767481066
|
|
NM_024884.3(L2HGDH):c.603A>G (p.Ser201=)
|
|
|
NM_024884.3(L2HGDH):c.632G>T (p.Gly211Val)
|
|
|
NM_024884.3(L2HGDH):c.647A>G (p.Asn216Ser)
|
rs574500803
|
|
NM_024884.3(L2HGDH):c.688T>C (p.Ser230Pro)
|
|
|
NM_024884.3(L2HGDH):c.703+13del
|
rs768868129
|
|
NM_024884.3(L2HGDH):c.704-4dup
|
rs775844474
|
|
NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter)
|
rs1890096157
|
|
NM_024884.3(L2HGDH):c.735A>G (p.Thr245=)
|
|
|
NM_024884.3(L2HGDH):c.738+16C>A
|
|
|
NM_024884.3(L2HGDH):c.738G>A (p.Lys246=)
|
rs771091083
|
|
NM_024884.3(L2HGDH):c.739-12A>G
|
|
|
NM_024884.3(L2HGDH):c.739-20_739-19del
|
|
|
NM_024884.3(L2HGDH):c.750T>C (p.Ile250=)
|
rs2139982392
|
|
NM_024884.3(L2HGDH):c.751C>T (p.Arg251Ter)
|
|
|
NM_024884.3(L2HGDH):c.779G>T (p.Gly260Val)
|
rs776859735
|
|
NM_024884.3(L2HGDH):c.781C>T (p.Leu261Phe)
|
|
|
NM_024884.3(L2HGDH):c.792C>G (p.Asp264Glu)
|
|
|
NM_024884.3(L2HGDH):c.794G>A (p.Arg265His)
|
rs748747271
|
|
NM_024884.3(L2HGDH):c.803A>T (p.Glu268Val)
|
|
|
NM_024884.3(L2HGDH):c.807G>A (p.Leu269=)
|
|
|
NM_024884.3(L2HGDH):c.826C>T (p.Pro276Ser)
|
|
|
NM_024884.3(L2HGDH):c.833T>C (p.Ile278Thr)
|
rs763449413
|
|
NM_024884.3(L2HGDH):c.844C>T (p.Arg282Trp)
|
|
|
NM_024884.3(L2HGDH):c.845G>C (p.Arg282Pro)
|
|
|
NM_024884.3(L2HGDH):c.853del (p.Tyr285fs)
|
rs748910382
|
|
NM_024884.3(L2HGDH):c.895A>G (p.Asn299Asp)
|
|
|
NM_024884.3(L2HGDH):c.903T>G (p.Tyr301Ter)
|
rs1889521207
|
|
NM_024884.3(L2HGDH):c.906+18C>T
|
|
|
NM_024884.3(L2HGDH):c.906+1G>T
|
rs786200870
|
|
NM_024884.3(L2HGDH):c.906+5G>T
|
|
|
NM_024884.3(L2HGDH):c.906+7A>G
|
|
|
NM_024884.3(L2HGDH):c.908T>A (p.Val303Asp)
|
rs2139977737
|
|
NM_024884.3(L2HGDH):c.920G>A (p.Arg307Gln)
|
|
|
NM_024884.3(L2HGDH):c.928T>G (p.Phe310Val)
|
|
|
NM_024884.3(L2HGDH):c.944del (p.Phe315fs)
|
|
|
NM_024884.3(L2HGDH):c.947C>T (p.Thr316Ile)
|
rs2139977562
|
|
NM_024884.3(L2HGDH):c.948A>G (p.Thr316=)
|
|
|
NM_024884.3(L2HGDH):c.959del (p.Asp320fs)
|
rs2139977488
|
|
NM_024884.3(L2HGDH):c.978G>T (p.Gly326=)
|
|
|
NM_024884.3(L2HGDH):c.994G>A (p.Ala332Thr)
|
|
|