NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)
|
rs8052579
|
0.79247
|
NM_000481.4(AMT):c.954G>A (p.Arg318=)
|
rs11715915
|
0.28593
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
NM_000170.3(GLDC):c.249G>A (p.Gly83=)
|
rs12341698
|
0.21682
|
NM_000170.3(GLDC):c.660C>T (p.Leu220=)
|
rs2228095
|
0.07130
|
NM_000170.3(GLDC):c.438G>A (p.Thr146=)
|
rs13289273
|
0.06458
|
NM_004483.5(GCSH):c.159C>T (p.Phe53=)
|
rs8177876
|
0.05863
|
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val)
|
rs73400312
|
0.04004
|
NM_004483.5(GCSH):c.252T>C (p.Tyr84=)
|
rs8177907
|
0.03948
|
NM_004483.5(GCSH):c.261C>G (p.Leu87=)
|
rs8177908
|
0.03948
|
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser)
|
rs8177877
|
0.03699
|
NM_004483.5(GCSH):c.90C>G (p.Pro30=)
|
rs8177847
|
0.03370
|
NM_000170.3(GLDC):c.666T>C (p.Asp222=)
|
rs12004164
|
0.02547
|
NM_000170.3(GLDC):c.1482+19T>C
|
rs79114789
|
0.02433
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_000170.3(GLDC):c.1815C>T (p.Leu605=)
|
rs74461075
|
0.01328
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
NM_000170.3(GLDC):c.2919+3A>G
|
rs73639325
|
0.00620
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
NM_000170.3(GLDC):c.1707+8G>A
|
rs144666843
|
0.00464
|
NM_000170.3(GLDC):c.1261+19T>C
|
rs192870343
|
0.00431
|
NM_000170.3(GLDC):c.2457+8C>T
|
rs147308839
|
0.00421
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_000481.4(AMT):c.898A>G (p.Met300Val)
|
rs144971200
|
0.00397
|
NM_004483.5(GCSH):c.148+15C>T
|
rs544589105
|
0.00355
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)
|
rs182760732
|
0.00197
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_000170.3(GLDC):c.1401+9A>G
|
rs75555848
|
0.00097
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_000170.3(GLDC):c.222C>T (p.Asp74=)
|
rs148373517
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_000481.4(AMT):c.510G>C (p.Val170=)
|
rs140380954
|
0.00091
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000170.3(GLDC):c.936C>T (p.Ile312=)
|
rs79057118
|
0.00058
|
NM_000170.3(GLDC):c.470+11T>C
|
rs142534180
|
0.00051
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_004483.5(GCSH):c.33C>T (p.Ala11=)
|
rs760969799
|
0.00049
|
NM_000170.3(GLDC):c.1155+91C>T
|
rs779753406
|
0.00047
|
NM_000170.3(GLDC):c.45G>A (p.Gly15=)
|
rs577986419
|
0.00045
|
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)
|
rs374342418
|
0.00044
|
NM_000170.3(GLDC):c.2202+19C>T
|
rs187370615
|
0.00041
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000170.3(GLDC):c.698T>C (p.Val233Ala)
|
rs140013612
|
0.00034
|
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)
|
rs145018304
|
0.00032
|
NM_000170.3(GLDC):c.471-14T>C
|
rs374248745
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_004483.5(GCSH):c.72G>T (p.Ala24=)
|
rs1010129827
|
0.00031
|
NM_000170.3(GLDC):c.329C>A (p.Pro110His)
|
rs371491621
|
0.00029
|
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)
|
rs190430477
|
0.00028
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_000170.3(GLDC):c.619C>G (p.Leu207Val)
|
rs142181803
|
0.00027
|
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)
|
rs150943866
|
0.00026
|
NM_000170.3(GLDC):c.2316-13A>C
|
rs200931138
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_000170.3(GLDC):c.48C>T (p.Val16=)
|
rs1262283551
|
0.00023
|
NM_000481.4(AMT):c.697-3C>T
|
rs373703503
|
0.00022
|
NM_000170.3(GLDC):c.1932C>T (p.Cys644=)
|
rs111348076
|
0.00021
|
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=)
|
rs149694787
|
0.00021
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
NM_000170.3(GLDC):c.2244G>A (p.Ser748=)
|
rs372693840
|
0.00019
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
|
rs201189946
|
0.00018
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu)
|
rs150698281
|
0.00016
|
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn)
|
rs763471932
|
0.00014
|
NM_000170.3(GLDC):c.1155+11C>T
|
rs369664085
|
0.00014
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu)
|
rs1003539348
|
0.00014
|
NM_000170.3(GLDC):c.1851-9C>G
|
rs377751310
|
0.00013
|
NM_000170.3(GLDC):c.2334G>A (p.Pro778=)
|
rs191795314
|
0.00013
|
NM_000170.3(GLDC):c.1752T>C (p.Pro584=)
|
rs150647379
|
0.00012
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000170.3(GLDC):c.635+16A>G
|
rs182471927
|
0.00012
|
NM_000170.3(GLDC):c.713+17G>A
|
rs201230226
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)
|
rs781693346
|
0.00011
|
NM_000170.3(GLDC):c.255+8C>T
|
rs202086134
|
0.00011
|
NM_000170.3(GLDC):c.642C>T (p.Asn214=)
|
rs775546889
|
0.00011
|
NM_000481.4(AMT):c.822G>C (p.Gly274=)
|
rs763963724
|
0.00011
|
NM_000481.4(AMT):c.952C>T (p.Arg318Trp)
|
rs777583902
|
0.00011
|
NM_000170.3(GLDC):c.2203-12C>T
|
rs767258496
|
0.00010
|
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser)
|
rs375850752
|
0.00010
|
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg)
|
rs370061961
|
0.00010
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
NM_000481.4(AMT):c.194A>G (p.His65Arg)
|
rs376248724
|
0.00010
|
NM_000481.4(AMT):c.701C>T (p.Ser234Leu)
|
rs150998074
|
0.00010
|
NM_000170.3(GLDC):c.2151C>T (p.Ile717=)
|
rs1055782169
|
0.00009
|
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=)
|
rs147951756
|
0.00009
|
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys)
|
rs148775220
|
0.00009
|
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val)
|
rs150833015
|
0.00009
|
NM_000170.3(GLDC):c.2457+17T>A
|
rs371788223
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala)
|
rs773642256
|
0.00009
|
NM_000170.3(GLDC):c.471-9C>T
|
rs557572975
|
0.00009
|
NM_000481.4(AMT):c.463C>T (p.Leu155Phe)
|
rs201233398
|
0.00009
|
NM_000481.4(AMT):c.582C>T (p.Gly194=)
|
rs377552553
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000170.3(GLDC):c.2053-12T>C
|
rs376968366
|
0.00008
|
NM_000170.3(GLDC):c.832G>A (p.Glu278Lys)
|
rs779837711
|
0.00008
|
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser)
|
rs1004754180
|
0.00008
|
NM_000170.3(GLDC):c.1732A>C (p.Asn578His)
|
rs770315107
|
0.00007
|
NM_000170.3(GLDC):c.1850+17T>G
|
rs909283201
|
0.00007
|
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr)
|
rs775834004
|
0.00007
|
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser)
|
rs555919940
|
0.00007
|
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)
|
rs144043066
|
0.00007
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)
|
rs141065026
|
0.00006
|
NM_000170.3(GLDC):c.1770A>G (p.Gly590=)
|
rs368034833
|
0.00006
|
NM_000170.3(GLDC):c.1824T>C (p.Tyr608=)
|
rs542429544
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
NM_000170.3(GLDC):c.2601G>A (p.Thr867=)
|
rs371678175
|
0.00006
|
NM_000170.3(GLDC):c.2612A>G (p.Lys871Arg)
|
rs766244892
|
0.00006
|
NM_000170.3(GLDC):c.2810G>A (p.Arg937His)
|
rs151100082
|
0.00006
|
NM_000170.3(GLDC):c.2919C>T (p.Leu973=)
|
rs113736090
|
0.00006
|
NM_000170.3(GLDC):c.2920-8C>T
|
rs138786708
|
0.00006
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000170.3(GLDC):c.934A>G (p.Ile312Val)
|
rs1351445046
|
0.00006
|
NM_000170.3(GLDC):c.960T>G (p.Phe320Leu)
|
rs771868469
|
0.00006
|
NM_000481.4(AMT):c.13G>T (p.Val5Leu)
|
rs764032357
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000481.4(AMT):c.401A>G (p.Asn134Ser)
|
rs776832405
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
NM_000170.3(GLDC):c.1067C>G (p.Thr356Ser)
|
rs376612483
|
0.00005
|
NM_000170.3(GLDC):c.1143C>A (p.Ile381=)
|
rs755376052
|
0.00005
|
NM_000170.3(GLDC):c.1149A>G (p.Thr383=)
|
rs146499591
|
0.00005
|
NM_000170.3(GLDC):c.135C>T (p.Ala45=)
|
rs747904179
|
0.00005
|
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala)
|
rs201890453
|
0.00005
|
NM_000170.3(GLDC):c.1650C>T (p.His550=)
|
rs566134371
|
0.00005
|
NM_000170.3(GLDC):c.1767A>G (p.Gln589=)
|
rs372596473
|
0.00005
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
NM_000170.3(GLDC):c.1926G>A (p.Thr642=)
|
rs772101467
|
0.00005
|
NM_000170.3(GLDC):c.2073C>T (p.Asn691=)
|
rs140352381
|
0.00005
|
NM_000170.3(GLDC):c.2181C>T (p.Asp727=)
|
rs192045547
|
0.00005
|
NM_000170.3(GLDC):c.2202+20G>A
|
rs770620676
|
0.00005
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
NM_000170.3(GLDC):c.2578G>A (p.Gly860Ser)
|
rs753759723
|
0.00005
|
NM_000170.3(GLDC):c.2666-8C>A
|
rs771178748
|
0.00005
|
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe)
|
rs747736821
|
0.00005
|
NM_000170.3(GLDC):c.2839-15G>A
|
rs374118017
|
0.00005
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
NM_000170.3(GLDC):c.862-13A>G
|
rs541830167
|
0.00005
|
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
|
rs200413149
|
0.00005
|
NM_000481.4(AMT):c.231G>A (p.Ser77=)
|
rs779002947
|
0.00005
|
NM_000481.4(AMT):c.436G>A (p.Ala146Thr)
|
rs570868528
|
0.00005
|
NM_000481.4(AMT):c.91-8G>A
|
rs375632843
|
0.00005
|
NM_004483.5(GCSH):c.84G>A (p.Pro28=)
|
rs775381594
|
0.00005
|
NM_000170.3(GLDC):c.1110A>G (p.Gln370=)
|
rs778787964
|
0.00004
|
NM_000170.3(GLDC):c.1308T>C (p.Asp436=)
|
rs1314627231
|
0.00004
|
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile)
|
rs750883330
|
0.00004
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
NM_000170.3(GLDC):c.1534G>C (p.Val512Leu)
|
rs751521889
|
0.00004
|
NM_000170.3(GLDC):c.1580+9G>A
|
rs759094314
|
0.00004
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
NM_000170.3(GLDC):c.1666-6T>C
|
rs766481730
|
0.00004
|
NM_000170.3(GLDC):c.1754T>C (p.Leu585Pro)
|
rs767055450
|
0.00004
|
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile)
|
rs778376889
|
0.00004
|
NM_000170.3(GLDC):c.2202+8C>A
|
rs577906178
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.228A>G (p.Arg76=)
|
rs749103956
|
0.00004
|
NM_000170.3(GLDC):c.2304G>A (p.Gly768=)
|
rs533775952
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val)
|
rs139300551
|
0.00004
|
NM_000170.3(GLDC):c.2397C>T (p.Thr799=)
|
rs778396953
|
0.00004
|
NM_000170.3(GLDC):c.2406G>A (p.Ala802=)
|
rs368811775
|
0.00004
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly)
|
rs778000679
|
0.00004
|
NM_000170.3(GLDC):c.2565A>C (p.Ala855=)
|
rs966395392
|
0.00004
|
NM_000170.3(GLDC):c.2673C>T (p.His891=)
|
rs144939090
|
0.00004
|
NM_000170.3(GLDC):c.2832G>A (p.Pro944=)
|
rs764242927
|
0.00004
|
NM_000170.3(GLDC):c.2862C>T (p.Cys954=)
|
rs780534916
|
0.00004
|
NM_000170.3(GLDC):c.2919+17T>G
|
rs372909849
|
0.00004
|
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp)
|
rs750964572
|
0.00004
|
NM_000170.3(GLDC):c.310C>A (p.Pro104Thr)
|
rs543718579
|
0.00004
|
NM_000170.3(GLDC):c.335-10C>T
|
rs373940475
|
0.00004
|
NM_000170.3(GLDC):c.471-20A>G
|
rs750857265
|
0.00004
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
NM_000170.3(GLDC):c.699C>T (p.Val233=)
|
rs372130842
|
0.00004
|
NM_000170.3(GLDC):c.745C>T (p.Pro249Ser)
|
rs778202301
|
0.00004
|
NM_000170.3(GLDC):c.869C>T (p.Ala290Val)
|
rs534936420
|
0.00004
|
NM_000481.4(AMT):c.*86G>T
|
rs745685639
|
0.00004
|
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
|
rs201400089
|
0.00004
|
NM_000481.4(AMT):c.148G>C (p.Val50Leu)
|
rs148917929
|
0.00004
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
NM_000481.4(AMT):c.203C>T (p.Ser68Leu)
|
rs759015013
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)
|
rs768698117
|
0.00004
|
NM_000481.4(AMT):c.642C>T (p.Gly214=)
|
rs759245586
|
0.00004
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
NM_000481.4(AMT):c.789C>T (p.Ser263=)
|
rs753177107
|
0.00004
|
NM_000481.4(AMT):c.944G>A (p.Arg315Lys)
|
rs376366324
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000481.4(AMT):c.962T>C (p.Val321Ala)
|
rs766509002
|
0.00004
|
NM_004483.5(GCSH):c.196A>T (p.Ile66Phe)
|
rs368716465
|
0.00004
|
NM_004483.5(GCSH):c.228+8A>C
|
rs375928222
|
0.00004
|
NM_004483.5(GCSH):c.425-18G>A
|
rs200332491
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.114C>T (p.Ser38=)
|
rs1315587398
|
0.00003
|
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)
|
rs121964979
|
0.00003
|
NM_000170.3(GLDC):c.1383G>A (p.Arg461=)
|
rs376222727
|
0.00003
|
NM_000170.3(GLDC):c.1428C>T (p.Val476=)
|
rs781701911
|
0.00003
|
NM_000170.3(GLDC):c.1446C>T (p.Asp482=)
|
rs201147701
|
0.00003
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
NM_000170.3(GLDC):c.1483-6C>T
|
rs1442788186
|
0.00003
|
NM_000170.3(GLDC):c.1644T>G (p.Leu548=)
|
rs750071045
|
0.00003
|
NM_000170.3(GLDC):c.1695G>A (p.Ser565=)
|
rs762780926
|
0.00003
|
NM_000170.3(GLDC):c.1751C>T (p.Pro584Leu)
|
rs779138019
|
0.00003
|
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu)
|
rs375497905
|
0.00003
|
NM_000170.3(GLDC):c.1916G>A (p.Gly639Glu)
|
rs1488935367
|
0.00003
|
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met)
|
rs141153261
|
0.00003
|
NM_000170.3(GLDC):c.2041C>T (p.Leu681Phe)
|
rs753457618
|
0.00003
|
NM_000170.3(GLDC):c.2137G>A (p.Val713Met)
|
rs912659426
|
0.00003
|
NM_000170.3(GLDC):c.2229C>T (p.Phe743=)
|
rs144317480
|
0.00003
|
NM_000170.3(GLDC):c.227G>C (p.Arg76Thr)
|
rs143358660
|
0.00003
|
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)
|
rs751114163
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln)
|
rs187209250
|
0.00003
|
NM_000170.3(GLDC):c.2387C>T (p.Pro796Leu)
|
rs975247366
|
0.00003
|
NM_000170.3(GLDC):c.2416G>A (p.Gly806Ser)
|
rs138797822
|
0.00003
|
NM_000170.3(GLDC):c.2569+9C>G
|
rs1410571088
|
0.00003
|
NM_000170.3(GLDC):c.261T>C (p.Ile87=)
|
rs776700682
|
0.00003
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000170.3(GLDC):c.2751C>T (p.Asp917=)
|
rs775143096
|
0.00003
|
NM_000170.3(GLDC):c.2926G>A (p.Val976Met)
|
rs150624881
|
0.00003
|
NM_000170.3(GLDC):c.606A>C (p.Ala202=)
|
rs779661117
|
0.00003
|
NM_000170.3(GLDC):c.726C>A (p.Val242=)
|
rs377750481
|
0.00003
|
NM_000170.3(GLDC):c.84G>T (p.Pro28=)
|
rs1259938806
|
0.00003
|
NM_000170.3(GLDC):c.870C>T (p.Ala290=)
|
rs143159617
|
0.00003
|
NM_000170.3(GLDC):c.873C>T (p.Cys291=)
|
rs893058571
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn)
|
rs752952950
|
0.00003
|
NM_000481.4(AMT):c.174A>G (p.Pro58=)
|
rs1356238437
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.472-6T>C
|
rs750153849
|
0.00003
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
NM_000481.4(AMT):c.705G>A (p.Val235=)
|
rs1324646911
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000481.4(AMT):c.953G>A (p.Arg318Gln)
|
rs755780814
|
0.00003
|
NM_004483.5(GCSH):c.129T>C (p.Thr43=)
|
rs867378019
|
0.00003
|
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr)
|
rs1443267686
|
0.00003
|
NM_000170.3(GLDC):c.1014A>G (p.Glu338=)
|
rs764153656
|
0.00002
|
NM_000170.3(GLDC):c.103C>A (p.Arg35=)
|
rs764400486
|
0.00002
|
NM_000170.3(GLDC):c.1059-13A>C
|
rs774411764
|
0.00002
|
NM_000170.3(GLDC):c.1155+12G>A
|
rs200706904
|
0.00002
|
NM_000170.3(GLDC):c.1161C>T (p.Leu387=)
|
rs781613958
|
0.00002
|
NM_000170.3(GLDC):c.1242C>T (p.Ala414=)
|
rs761471932
|
0.00002
|
NM_000170.3(GLDC):c.1329C>T (p.Gly443=)
|
rs1331638239
|
0.00002
|
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)
|
rs777365335
|
0.00002
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
0.00002
|
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
|
rs372136194
|
0.00002
|
NM_000170.3(GLDC):c.1433A>C (p.Glu478Ala)
|
rs751588571
|
0.00002
|
NM_000170.3(GLDC):c.147C>T (p.Ala49=)
|
rs994081399
|
0.00002
|
NM_000170.3(GLDC):c.1501A>G (p.Met501Val)
|
rs748216955
|
0.00002
|
NM_000170.3(GLDC):c.1510G>C (p.Glu504Gln)
|
rs1038321056
|
0.00002
|
NM_000170.3(GLDC):c.1536G>A (p.Val512=)
|
rs370403481
|
0.00002
|
NM_000170.3(GLDC):c.1580+5G>C
|
rs764790596
|
0.00002
|
NM_000170.3(GLDC):c.15C>T (p.Ala5=)
|
rs1217742509
|
0.00002
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.1662A>C (p.Pro554=)
|
rs547588947
|
0.00002
|
NM_000170.3(GLDC):c.1702C>G (p.Leu568Val)
|
rs760181670
|
0.00002
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
NM_000170.3(GLDC):c.1743C>G (p.Pro581=)
|
rs771788026
|
0.00002
|
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu)
|
rs201997592
|
0.00002
|
NM_000170.3(GLDC):c.1787G>A (p.Arg596Gln)
|
rs573132323
|
0.00002
|
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr)
|
rs143653301
|
0.00002
|
NM_000170.3(GLDC):c.1977C>T (p.His659=)
|
rs1402896169
|
0.00002
|
NM_000170.3(GLDC):c.2048C>G (p.Ala683Gly)
|
rs1324189699
|
0.00002
|
NM_000170.3(GLDC):c.2053-11T>G
|
rs752086205
|
0.00002
|
NM_000170.3(GLDC):c.2203-10T>G
|
rs761374321
|
0.00002
|
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu)
|
rs769035358
|
0.00002
|
NM_000170.3(GLDC):c.2253T>C (p.Asn751=)
|
rs765624698
|
0.00002
|
NM_000170.3(GLDC):c.2289T>C (p.Gly763=)
|
rs749032015
|
0.00002
|
NM_000170.3(GLDC):c.243C>G (p.Thr81=)
|
rs1042575278
|
0.00002
|
NM_000170.3(GLDC):c.2458-11C>T
|
rs778469197
|
0.00002
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
NM_000170.3(GLDC):c.2703G>C (p.Gly901=)
|
rs369767254
|
0.00002
|
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys)
|
rs766928717
|
0.00002
|
NM_000170.3(GLDC):c.2818C>T (p.Pro940Ser)
|
rs559923220
|
0.00002
|
NM_000170.3(GLDC):c.2839-16C>T
|
rs776393477
|
0.00002
|
NM_000170.3(GLDC):c.290C>T (p.Ala97Val)
|
rs917975796
|
0.00002
|
NM_000170.3(GLDC):c.2966T>C (p.Ile989Thr)
|
rs149336868
|
0.00002
|
NM_000170.3(GLDC):c.299G>A (p.Arg100His)
|
rs1470245998
|
0.00002
|
NM_000170.3(GLDC):c.3003C>T (p.Thr1001=)
|
rs975199715
|
0.00002
|
NM_000170.3(GLDC):c.3054G>A (p.Ala1018=)
|
rs749409925
|
0.00002
|
NM_000170.3(GLDC):c.375C>T (p.Ser125=)
|
rs750281192
|
0.00002
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
NM_000170.3(GLDC):c.471-10T>A
|
rs369391624
|
0.00002
|
NM_000170.3(GLDC):c.549G>A (p.Val183=)
|
rs371771891
|
0.00002
|
NM_000170.3(GLDC):c.635+14C>A
|
rs1409018724
|
0.00002
|
NM_000170.3(GLDC):c.670C>T (p.Arg224Cys)
|
rs755436133
|
0.00002
|
NM_000170.3(GLDC):c.716A>G (p.Tyr239Cys)
|
rs781364515
|
0.00002
|
NM_000170.3(GLDC):c.746C>T (p.Pro249Leu)
|
rs754710330
|
0.00002
|
NM_000170.3(GLDC):c.755T>C (p.Met252Thr)
|
rs766114667
|
0.00002
|
NM_000170.3(GLDC):c.777C>G (p.Val259=)
|
rs141980284
|
0.00002
|
NM_000170.3(GLDC):c.807G>A (p.Thr269=)
|
rs374776450
|
0.00002
|
NM_000170.3(GLDC):c.829A>T (p.Thr277Ser)
|
rs372595899
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000170.3(GLDC):c.900C>T (p.Cys300=)
|
rs143256976
|
0.00002
|
NM_000170.3(GLDC):c.935T>C (p.Ile312Thr)
|
rs761921284
|
0.00002
|
NM_000481.4(AMT):c.100C>T (p.Arg34Cys)
|
rs143389339
|
0.00002
|
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser)
|
rs769609020
|
0.00002
|
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp)
|
rs775324601
|
0.00002
|
NM_000481.4(AMT):c.248A>G (p.His83Arg)
|
rs1467607949
|
0.00002
|
NM_000481.4(AMT):c.431C>T (p.Ser144Phe)
|
rs147482804
|
0.00002
|
NM_000481.4(AMT):c.434A>G (p.Asn145Ser)
|
rs386833682
|
0.00002
|
NM_000481.4(AMT):c.43C>T (p.Leu15=)
|
rs775112005
|
0.00002
|
NM_000481.4(AMT):c.503G>C (p.Arg168Thr)
|
rs200058579
|
0.00002
|
NM_000481.4(AMT):c.522G>T (p.Val174=)
|
rs768025952
|
0.00002
|
NM_000481.4(AMT):c.529A>G (p.Asn177Asp)
|
rs771657567
|
0.00002
|
NM_000481.4(AMT):c.584T>C (p.Val195Ala)
|
rs752740839
|
0.00002
|
NM_000481.4(AMT):c.657C>T (p.Arg219=)
|
rs976237396
|
0.00002
|
NM_000481.4(AMT):c.658G>A (p.Val220Met)
|
rs199638653
|
0.00002
|
NM_000481.4(AMT):c.78T>C (p.Leu26=)
|
rs764624214
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)
|
rs769222264
|
0.00002
|
NM_004483.5(GCSH):c.505A>C (p.Lys169Gln)
|
rs1189328619
|
0.00002
|
NM_004483.5(GCSH):c.514G>A (p.Glu172Lys)
|
rs760566469
|
0.00002
|
NM_004483.5(GCSH):c.73C>T (p.Pro25Ser)
|
rs533447730
|
0.00002
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.1010G>A (p.Arg337Gln)
|
rs138129131
|
0.00001
|
NM_000170.3(GLDC):c.1032G>C (p.Met344Ile)
|
rs752892944
|
0.00001
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
NM_000170.3(GLDC):c.1035T>G (p.Pro345=)
|
rs759830992
|
0.00001
|
NM_000170.3(GLDC):c.1050G>A (p.Gly350=)
|
rs771910050
|
0.00001
|
NM_000170.3(GLDC):c.1058+7G>A
|
rs1291062152
|
0.00001
|
NM_000170.3(GLDC):c.1058+8G>A
|
rs1230501747
|
0.00001
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
NM_000170.3(GLDC):c.1080G>T (p.Val360=)
|
rs745502236
|
0.00001
|
NM_000170.3(GLDC):c.1114A>G (p.Ile372Val)
|
rs755156031
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr)
|
rs759133707
|
0.00001
|
NM_000170.3(GLDC):c.1156-10T>C
|
rs748599108
|
0.00001
|
NM_000170.3(GLDC):c.11G>A (p.Cys4Tyr)
|
rs1267461962
|
0.00001
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
NM_000170.3(GLDC):c.1215G>A (p.Glu405=)
|
rs771135075
|
0.00001
|
NM_000170.3(GLDC):c.1261+16G>A
|
rs760139834
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp)
|
rs769583276
|
0.00001
|
NM_000170.3(GLDC):c.1332C>T (p.Cys444=)
|
rs781050148
|
0.00001
|
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro)
|
rs756770984
|
0.00001
|
NM_000170.3(GLDC):c.1359C>T (p.Ala453=)
|
rs766839627
|
0.00001
|
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp)
|
rs773119895
|
0.00001
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1398C>T (p.Gly466=)
|
rs746977015
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1401A>G (p.Thr467=)
|
rs1818402760
|
0.00001
|
NM_000170.3(GLDC):c.1402-10G>A
|
rs199516238
|
0.00001
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
NM_000170.3(GLDC):c.1441C>G (p.Leu481Val)
|
rs764170083
|
0.00001
|
NM_000170.3(GLDC):c.1443G>C (p.Leu481=)
|
rs1334045011
|
0.00001
|
NM_000170.3(GLDC):c.1447G>A (p.Asp483Asn)
|
rs753029511
|
0.00001
|
NM_000170.3(GLDC):c.1452G>A (p.Leu484=)
|
rs766071661
|
0.00001
|
NM_000170.3(GLDC):c.1482+13A>G
|
rs374894047
|
0.00001
|
NM_000170.3(GLDC):c.1485A>G (p.Glu495=)
|
rs747500252
|
0.00001
|
NM_000170.3(GLDC):c.149C>T (p.Ser50Leu)
|
rs778725420
|
0.00001
|
NM_000170.3(GLDC):c.1517G>C (p.Arg506Thr)
|
rs754119942
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1546A>G (p.Thr516Ala)
|
rs1007990230
|
0.00001
|
NM_000170.3(GLDC):c.1560C>G (p.Leu520=)
|
rs748612685
|
0.00001
|
NM_000170.3(GLDC):c.1567C>G (p.Gln523Glu)
|
rs199711131
|
0.00001
|
NM_000170.3(GLDC):c.156C>T (p.Leu52=)
|
rs779860452
|
0.00001
|
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu)
|
rs751362463
|
0.00001
|
NM_000170.3(GLDC):c.1572G>A (p.Val524=)
|
rs373679781
|
0.00001
|
NM_000170.3(GLDC):c.1580+4T>G
|
rs752642527
|
0.00001
|
NM_000170.3(GLDC):c.1581-11T>G
|
rs764656980
|
0.00001
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln)
|
rs747853668
|
0.00001
|
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly)
|
rs755680488
|
0.00001
|
NM_000170.3(GLDC):c.1640C>G (p.Ser547Cys)
|
rs1320151906
|
0.00001
|
NM_000170.3(GLDC):c.1659T>G (p.Ile553Met)
|
rs763489615
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
NM_000170.3(GLDC):c.1666-20T>C
|
rs912148549
|
0.00001
|
NM_000170.3(GLDC):c.1666-4A>T
|
rs909685694
|
0.00001
|
NM_000170.3(GLDC):c.1666-7C>T
|
rs1298989281
|
0.00001
|
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr)
|
rs1366947118
|
0.00001
|
NM_000170.3(GLDC):c.1684C>T (p.Leu562=)
|
rs773483552
|
0.00001
|
NM_000170.3(GLDC):c.1689C>T (p.Asn563=)
|
rs546431385
|
0.00001
|
NM_000170.3(GLDC):c.1708-10T>C
|
rs1818291131
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
NM_000170.3(GLDC):c.1737C>T (p.Ile579=)
|
rs746477003
|
0.00001
|
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu)
|
rs1296797567
|
0.00001
|
NM_000170.3(GLDC):c.1762G>C (p.Ala588Pro)
|
rs780654157
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
|
rs772777667
|
0.00001
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
NM_000170.3(GLDC):c.1850+7G>A
|
rs1334727362
|
0.00001
|
NM_000170.3(GLDC):c.1851C>T (p.Ser617=)
|
rs777724341
|
0.00001
|
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)
|
rs758575745
|
0.00001
|
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val)
|
rs779980470
|
0.00001
|
NM_000170.3(GLDC):c.1878G>A (p.Leu626=)
|
rs1360717642
|
0.00001
|
NM_000170.3(GLDC):c.1887C>G (p.Ile629Met)
|
rs1400097268
|
0.00001
|
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)
|
rs751025203
|
0.00001
|
NM_000170.3(GLDC):c.1917G>A (p.Gly639=)
|
rs776998782
|
0.00001
|
NM_000170.3(GLDC):c.1926+7A>T
|
rs1381047073
|
0.00001
|
NM_000170.3(GLDC):c.1941G>A (p.Pro647=)
|
rs1232468588
|
0.00001
|
NM_000170.3(GLDC):c.1953T>C (p.His651=)
|
rs777613879
|
0.00001
|
NM_000170.3(GLDC):c.1956G>C (p.Gly652=)
|
rs1221597797
|
0.00001
|
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu)
|
rs762425284
|
0.00001
|
NM_000170.3(GLDC):c.2019T>C (p.Tyr673=)
|
rs774506115
|
0.00001
|
NM_000170.3(GLDC):c.2022G>C (p.Gly674=)
|
rs768923849
|
0.00001
|
NM_000170.3(GLDC):c.2039A>G (p.His680Arg)
|
rs754531832
|
0.00001
|
NM_000170.3(GLDC):c.2052+1G>C
|
rs765906340
|
0.00001
|
NM_000170.3(GLDC):c.2052+7G>C
|
rs755812288
|
0.00001
|
NM_000170.3(GLDC):c.2053G>T (p.Val685Leu)
|
rs367988640
|
0.00001
|
NM_000170.3(GLDC):c.205G>A (p.Gly69Ser)
|
rs955023601
|
0.00001
|
NM_000170.3(GLDC):c.2070G>A (p.Glu690=)
|
rs1817629842
|
0.00001
|
NM_000170.3(GLDC):c.2106C>T (p.Thr702=)
|
rs751926697
|
0.00001
|
NM_000170.3(GLDC):c.2114T>A (p.Val705Glu)
|
rs753301368
|
0.00001
|
NM_000170.3(GLDC):c.2115G>A (p.Val705=)
|
rs765205689
|
0.00001
|
NM_000170.3(GLDC):c.2139G>A (p.Val713=)
|
rs763944767
|
0.00001
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr)
|
rs763854673
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp)
|
rs1817625926
|
0.00001
|
NM_000170.3(GLDC):c.2202+6A>G
|
rs368418946
|
0.00001
|
NM_000170.3(GLDC):c.2202+9T>G
|
rs765177412
|
0.00001
|
NM_000170.3(GLDC):c.2262G>A (p.Lys754=)
|
rs954961288
|
0.00001
|
NM_000170.3(GLDC):c.2271C>T (p.Cys757=)
|
rs770961258
|
0.00001
|
NM_000170.3(GLDC):c.2280C>T (p.His760=)
|
rs777816136
|
0.00001
|
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly)
|
rs569728662
|
0.00001
|
NM_000170.3(GLDC):c.2315+1G>T
|
rs1252460597
|
0.00001
|
NM_000170.3(GLDC):c.2315+7T>C
|
rs747009828
|
0.00001
|
NM_000170.3(GLDC):c.2315+8C>T
|
rs773354023
|
0.00001
|
NM_000170.3(GLDC):c.2316-10A>C
|
rs1046747265
|
0.00001
|
NM_000170.3(GLDC):c.2316-17A>G
|
rs1263329857
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala)
|
rs1476838990
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)
|
rs121964977
|
0.00001
|
NM_000170.3(GLDC):c.2412A>G (p.Pro804=)
|
rs1008088665
|
0.00001
|
NM_000170.3(GLDC):c.2437A>G (p.Ile813Val)
|
rs751624844
|
0.00001
|
NM_000170.3(GLDC):c.2457+10G>A
|
rs771927272
|
0.00001
|
NM_000170.3(GLDC):c.2469C>G (p.Gly823=)
|
rs1216155531
|
0.00001
|
NM_000170.3(GLDC):c.2472G>A (p.Lys824=)
|
rs1286626531
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2499G>A (p.Ala833=)
|
rs767267571
|
0.00001
|
NM_000170.3(GLDC):c.2523C>T (p.Ala841=)
|
rs762805307
|
0.00001
|
NM_000170.3(GLDC):c.255+5G>T
|
rs372569318
|
0.00001
|
NM_000170.3(GLDC):c.256-15G>A
|
rs189719025
|
0.00001
|
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp)
|
rs1455180063
|
0.00001
|
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met)
|
rs749852046
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2666-4G>C
|
rs1007363577
|
0.00001
|
NM_000170.3(GLDC):c.2670T>C (p.Phe890=)
|
rs760961076
|
0.00001
|
NM_000170.3(GLDC):c.2684T>C (p.Met895Thr)
|
rs769606225
|
0.00001
|
NM_000170.3(GLDC):c.268T>C (p.Leu90=)
|
rs771631849
|
0.00001
|
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
|
rs780535258
|
0.00001
|
NM_000170.3(GLDC):c.2706C>T (p.Thr902=)
|
rs752943013
|
0.00001
|
NM_000170.3(GLDC):c.2718G>A (p.Glu906=)
|
rs1463086398
|
0.00001
|
NM_000170.3(GLDC):c.273C>T (p.Ile91=)
|
rs1335911770
|
0.00001
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
NM_000170.3(GLDC):c.2749G>C (p.Asp917His)
|
rs370297328
|
0.00001
|
NM_000170.3(GLDC):c.2793T>A (p.Ala931=)
|
rs367759326
|
0.00001
|
NM_000170.3(GLDC):c.2814C>T (p.Ile938=)
|
rs750518195
|
0.00001
|
NM_000170.3(GLDC):c.2820C>T (p.Pro940=)
|
rs1355492624
|
0.00001
|
NM_000170.3(GLDC):c.282G>A (p.Thr94=)
|
rs769003941
|
0.00001
|
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu)
|
rs374969047
|
0.00001
|
NM_000170.3(GLDC):c.2839-7G>A
|
rs771936299
|
0.00001
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)
|
rs1410625190
|
0.00001
|
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln)
|
rs1452327155
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala)
|
rs554230348
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
NM_000170.3(GLDC):c.2936A>C (p.Glu979Ala)
|
rs550514750
|
0.00001
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly)
|
rs1288008254
|
0.00001
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
NM_000170.3(GLDC):c.2994G>C (p.Leu998=)
|
rs759229432
|
0.00001
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
NM_000170.3(GLDC):c.3048G>C (p.Lys1016Asn)
|
rs1034808665
|
0.00001
|
NM_000170.3(GLDC):c.31C>A (p.Arg11Ser)
|
rs1359478814
|
0.00001
|
NM_000170.3(GLDC):c.327C>T (p.Asp109=)
|
rs1181706015
|
0.00001
|
NM_000170.3(GLDC):c.328C>T (p.Pro110Ser)
|
rs866641732
|
0.00001
|
NM_000170.3(GLDC):c.346A>G (p.Ile116Val)
|
rs1010145706
|
0.00001
|
NM_000170.3(GLDC):c.352G>A (p.Ala118Thr)
|
rs1333702002
|
0.00001
|
NM_000170.3(GLDC):c.357T>C (p.Thr119=)
|
rs777954190
|
0.00001
|
NM_000170.3(GLDC):c.372A>T (p.Ser124=)
|
rs1162730454
|
0.00001
|
NM_000170.3(GLDC):c.38G>A (p.Gly13Asp)
|
rs1819728208
|
0.00001
|
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)
|
rs386833576
|
0.00001
|
NM_000170.3(GLDC):c.396G>A (p.Ser132=)
|
rs542613459
|
0.00001
|
NM_000170.3(GLDC):c.398A>G (p.Tyr133Cys)
|
rs751373832
|
0.00001
|
NM_000170.3(GLDC):c.437C>T (p.Thr146Met)
|
rs376578742
|
0.00001
|
NM_000170.3(GLDC):c.439_441dup (p.Ile147dup)
|
rs1157234920
|
0.00001
|
NM_000170.3(GLDC):c.446G>A (p.Arg149Gln)
|
rs538431715
|
0.00001
|
NM_000170.3(GLDC):c.470+8A>G
|
rs1428962515
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000170.3(GLDC):c.519G>A (p.Leu173=)
|
rs1384226436
|
0.00001
|
NM_000170.3(GLDC):c.51G>T (p.Gly17=)
|
rs947785805
|
0.00001
|
NM_000170.3(GLDC):c.528A>C (p.Leu176Phe)
|
rs757566503
|
0.00001
|
NM_000170.3(GLDC):c.538C>T (p.Gln180Ter)
|
rs762989914
|
0.00001
|
NM_000170.3(GLDC):c.544A>G (p.Met182Val)
|
rs541691467
|
0.00001
|
NM_000170.3(GLDC):c.588G>A (p.Leu196=)
|
rs1324658907
|
0.00001
|
NM_000170.3(GLDC):c.589C>G (p.Leu197Val)
|
rs1461615694
|
0.00001
|
NM_000170.3(GLDC):c.60C>T (p.Arg20=)
|
rs1162699082
|
0.00001
|
NM_000170.3(GLDC):c.635+18G>C
|
rs199569891
|
0.00001
|
NM_000170.3(GLDC):c.635+8G>C
|
rs760774268
|
0.00001
|
NM_000170.3(GLDC):c.637C>A (p.His213Asn)
|
rs1210682949
|
0.00001
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly)
|
rs140411475
|
0.00001
|
NM_000170.3(GLDC):c.662T>C (p.Val221Ala)
|
rs1313892401
|
0.00001
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
NM_000170.3(GLDC):c.669C>T (p.Pro223=)
|
rs748556946
|
0.00001
|
NM_000170.3(GLDC):c.67G>A (p.Ala23Thr)
|
rs978322077
|
0.00001
|
NM_000170.3(GLDC):c.687A>G (p.Thr229=)
|
rs772572634
|
0.00001
|
NM_000170.3(GLDC):c.713+16C>T
|
rs749690567
|
0.00001
|
NM_000170.3(GLDC):c.714-13T>G
|
rs1453203047
|
0.00001
|
NM_000170.3(GLDC):c.714-2A>G
|
rs1170385434
|
0.00001
|
NM_000170.3(GLDC):c.729C>T (p.Leu243=)
|
rs1372919732
|
0.00001
|
NM_000170.3(GLDC):c.787T>C (p.Leu263=)
|
rs1322312349
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000170.3(GLDC):c.816G>A (p.Lys272=)
|
rs771125415
|
0.00001
|
NM_000170.3(GLDC):c.831G>A (p.Thr277=)
|
rs369824891
|
0.00001
|
NM_000170.3(GLDC):c.837C>G (p.Leu279=)
|
rs755904706
|
0.00001
|
NM_000170.3(GLDC):c.838G>A (p.Val280Met)
|
rs1258949524
|
0.00001
|
NM_000170.3(GLDC):c.861+10C>T
|
rs565335444
|
0.00001
|
NM_000170.3(GLDC):c.861+20G>A
|
rs762609731
|
0.00001
|
NM_000170.3(GLDC):c.862-14C>T
|
rs1202842146
|
0.00001
|
NM_000170.3(GLDC):c.862-16C>G
|
rs780268150
|
0.00001
|
NM_000170.3(GLDC):c.862-4C>A
|
rs768905756
|
0.00001
|
NM_000170.3(GLDC):c.862-8C>T
|
rs1275195194
|
0.00001
|
NM_000170.3(GLDC):c.868G>A (p.Ala290Thr)
|
rs1436719669
|
0.00001
|
NM_000170.3(GLDC):c.907A>T (p.Arg303Trp)
|
rs753551054
|
0.00001
|
NM_000170.3(GLDC):c.915T>C (p.Pro305=)
|
rs1478814212
|
0.00001
|
NM_000170.3(GLDC):c.940C>T (p.Leu314=)
|
rs1350558805
|
0.00001
|
NM_000170.3(GLDC):c.959T>G (p.Phe320Cys)
|
rs773173613
|
0.00001
|
NM_000170.3(GLDC):c.969A>G (p.Pro323=)
|
rs748143417
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000170.3(GLDC):c.972G>A (p.Leu324=)
|
rs754536865
|
0.00001
|
NM_000170.3(GLDC):c.990T>C (p.His330=)
|
rs1329493716
|
0.00001
|
NM_000481.4(AMT):c.1029G>A (p.Lys343=)
|
rs1553638253
|
0.00001
|
NM_000481.4(AMT):c.1034-14T>C
|
rs772896226
|
0.00001
|
NM_000481.4(AMT):c.1038T>C (p.Thr346=)
|
rs532787574
|
0.00001
|
NM_000481.4(AMT):c.1083G>A (p.Ala361=)
|
rs753899057
|
0.00001
|
NM_000481.4(AMT):c.1092T>C (p.Tyr364=)
|
rs764246902
|
0.00001
|
NM_000481.4(AMT):c.1095G>A (p.Val365=)
|
rs1367905315
|
0.00001
|
NM_000481.4(AMT):c.1101C>T (p.Cys367=)
|
rs753150990
|
0.00001
|
NM_000481.4(AMT):c.110C>T (p.Pro37Leu)
|
rs202225151
|
0.00001
|
NM_000481.4(AMT):c.111G>A (p.Pro37=)
|
rs754165977
|
0.00001
|
NM_000481.4(AMT):c.1140G>C (p.Val380=)
|
rs746645414
|
0.00001
|
NM_000481.4(AMT):c.1157T>C (p.Met386Thr)
|
rs757170367
|
0.00001
|
NM_000481.4(AMT):c.123C>T (p.Phe41=)
|
rs774066970
|
0.00001
|
NM_000481.4(AMT):c.126C>T (p.His42=)
|
rs761195733
|
0.00001
|
NM_000481.4(AMT):c.135C>T (p.His45=)
|
rs773881893
|
0.00001
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
NM_000481.4(AMT):c.141G>A (p.Gly47=)
|
rs1286962248
|
0.00001
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
|
rs746916262
|
0.00001
|
NM_000481.4(AMT):c.170T>C (p.Leu57Pro)
|
rs1439129399
|
0.00001
|
NM_000481.4(AMT):c.173C>T (p.Pro58Leu)
|
rs1008341193
|
0.00001
|
NM_000481.4(AMT):c.183C>T (p.Tyr61=)
|
rs2049116527
|
0.00001
|
NM_000481.4(AMT):c.198T>C (p.Thr66=)
|
rs151231828
|
0.00001
|
NM_000481.4(AMT):c.204G>A (p.Ser68=)
|
rs544165488
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.218G>A (p.Arg73His)
|
rs928833763
|
0.00001
|
NM_000481.4(AMT):c.22G>A (p.Val8Met)
|
rs759853191
|
0.00001
|
NM_000481.4(AMT):c.298A>G (p.Ser100Gly)
|
rs994868932
|
0.00001
|
NM_000481.4(AMT):c.29G>A (p.Arg10His)
|
rs150649086
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.339+1G>A
|
rs1575308129
|
0.00001
|
NM_000481.4(AMT):c.340-19C>T
|
rs529076810
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.399C>T (p.Thr133=)
|
rs1638775910
|
0.00001
|
NM_000481.4(AMT):c.425T>G (p.Val142Gly)
|
rs753217454
|
0.00001
|
NM_000481.4(AMT):c.435C>T (p.Asn145=)
|
rs1318110345
|
0.00001
|
NM_000481.4(AMT):c.441C>G (p.Gly147=)
|
rs2049076356
|
0.00001
|
NM_000481.4(AMT):c.443G>T (p.Cys148Phe)
|
rs140697432
|
0.00001
|
NM_000481.4(AMT):c.459G>A (p.Leu153=)
|
rs1054393564
|
0.00001
|
NM_000481.4(AMT):c.462C>T (p.Ala154=)
|
rs1192215555
|
0.00001
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
NM_000481.4(AMT):c.471+7C>G
|
rs776638071
|
0.00001
|
NM_000481.4(AMT):c.471+7C>T
|
rs776638071
|
0.00001
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
NM_000481.4(AMT):c.476A>G (p.Lys159Arg)
|
rs1553638556
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.516G>A (p.Leu172=)
|
rs1281064499
|
0.00001
|
NM_000481.4(AMT):c.519G>A (p.Glu173=)
|
rs376777888
|
0.00001
|
NM_000481.4(AMT):c.52T>C (p.Phe18Leu)
|
rs778523705
|
0.00001
|
NM_000481.4(AMT):c.546G>A (p.Leu182=)
|
rs1231853585
|
0.00001
|
NM_000481.4(AMT):c.54C>T (p.Phe18=)
|
rs914716059
|
0.00001
|
NM_000481.4(AMT):c.551-20C>T
|
rs770272854
|
0.00001
|
NM_000481.4(AMT):c.551-8G>C
|
rs1198266542
|
0.00001
|
NM_000481.4(AMT):c.566A>C (p.Gln189Pro)
|
rs1371408104
|
0.00001
|
NM_000481.4(AMT):c.576G>A (p.Gln192=)
|
rs1318971313
|
0.00001
|
NM_000481.4(AMT):c.579C>T (p.Ala193=)
|
rs749313171
|
0.00001
|
NM_000481.4(AMT):c.59C>T (p.Pro20Leu)
|
rs749087037
|
0.00001
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
NM_000481.4(AMT):c.613A>G (p.Met205Val)
|
rs766904475
|
0.00001
|
NM_000481.4(AMT):c.618C>T (p.Thr206=)
|
rs1361089893
|
0.00001
|
NM_000481.4(AMT):c.638T>G (p.Phe213Cys)
|
rs963795935
|
0.00001
|
NM_000481.4(AMT):c.656G>A (p.Arg219His)
|
rs202043041
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
NM_000481.4(AMT):c.684G>A (p.Glu228=)
|
rs2049057695
|
0.00001
|
NM_000481.4(AMT):c.696+10G>T
|
rs750787542
|
0.00001
|
NM_000481.4(AMT):c.697-11G>A
|
rs751099729
|
0.00001
|
NM_000481.4(AMT):c.697-35G>C
|
rs746080712
|
0.00001
|
NM_000481.4(AMT):c.702G>A (p.Ser234=)
|
rs761701860
|
0.00001
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.798G>A (p.Leu266=)
|
rs749832818
|
0.00001
|
NM_000481.4(AMT):c.807C>A (p.Gly269=)
|
rs200176736
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.830T>C (p.Ile277Thr)
|
rs1052014497
|
0.00001
|
NM_000481.4(AMT):c.847C>T (p.Pro283Ser)
|
rs771214835
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_000481.4(AMT):c.852G>A (p.Val284=)
|
rs749481166
|
0.00001
|
NM_000481.4(AMT):c.877+10G>A
|
rs1292050339
|
0.00001
|
NM_000481.4(AMT):c.878-16_878-15del
|
rs759562642
|
0.00001
|
NM_000481.4(AMT):c.878-5T>G
|
rs945551152
|
0.00001
|
NM_000481.4(AMT):c.879G>C (p.Gly293=)
|
rs972670254
|
0.00001
|
NM_000481.4(AMT):c.883C>T (p.Arg295Cys)
|
rs891522376
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000481.4(AMT):c.890G>A (p.Arg297Gln)
|
rs770048404
|
0.00001
|
NM_000481.4(AMT):c.891A>G (p.Arg297=)
|
rs763216113
|
0.00001
|
NM_000481.4(AMT):c.897T>C (p.Ala299=)
|
rs371771461
|
0.00001
|
NM_000481.4(AMT):c.939G>A (p.Lys313=)
|
rs1382062787
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000481.4(AMT):c.972G>A (p.Met324Ile)
|
rs773215128
|
0.00001
|
NM_000481.4(AMT):c.982G>A (p.Ala328Thr)
|
rs765464808
|
0.00001
|
NM_000481.4(AMT):c.996dup (p.His333fs)
|
rs2049025668
|
0.00001
|
NM_004483.5(GCSH):c.102G>A (p.Gly34=)
|
rs941391744
|
0.00001
|
NM_004483.5(GCSH):c.115C>T (p.Arg39Cys)
|
rs1245942364
|
0.00001
|
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)
|
rs1972502072
|
0.00001
|
NM_004483.5(GCSH):c.153T>C (p.Arg51=)
|
rs142243166
|
0.00001
|
NM_004483.5(GCSH):c.19C>T (p.Arg7Trp)
|
rs976425490
|
0.00001
|
NM_004483.5(GCSH):c.231A>C (p.Glu77Asp)
|
rs1236344907
|
0.00001
|
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn)
|
rs779721507
|
0.00001
|
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)
|
rs753037667
|
0.00001
|
NM_004483.5(GCSH):c.400G>A (p.Val134Ile)
|
rs766903708
|
0.00001
|
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr)
|
rs540817676
|
0.00001
|
NM_004483.5(GCSH):c.425-8G>C
|
rs770923322
|
0.00001
|
NM_004483.5(GCSH):c.44C>T (p.Thr15Ile)
|
rs1339562877
|
0.00001
|
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
|
rs967101315
|
0.00001
|
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
|
rs770835365
|
0.00001
|
NM_004483.5(GCSH):c.75C>T (p.Pro25=)
|
rs958918692
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
NC_000003.11:g.(?_49394821)_(49459947_?)dup
|
|
|
NC_000003.11:g.(?_49454201)_(49457785_?)del
|
|
|
NC_000003.11:g.(?_49456384)_(49459947_?)dup
|
|
|
NC_000003.12:g.(?_49419700)_(49419798_?)dup
|
|
|
NC_000003.12:g.(?_49421482)_(49424348_?)del
|
|
|
NC_000009.11:g.(?_6533007)_(6558694_?)del
|
|
|
NC_000009.11:g.(?_6533007)_(6565439_?)del
|
|
|
NC_000009.11:g.(?_6533007)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6540166_?)dup
|
|
|
NC_000009.11:g.(?_6533017)_(6595139_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6620339_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6533017)_(6645499_?)dup
|
|
|
NC_000009.11:g.(?_6534707)_(6538467_?)del
|
|
|
NC_000009.11:g.(?_6540041)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6549859)_(6553343_?)del
|
|
|
NC_000009.11:g.(?_6550783)_(6554801_?)del
|
|
|
NC_000009.11:g.(?_6550783)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6550783)_(6645499_?)dup
|
|
|
NC_000009.11:g.(?_6550783)_(6645519_?)del
|
|
|
NC_000009.11:g.(?_6550793)_(6550924_?)dup
|
|
|
NC_000009.11:g.(?_6550793)_(6558694_?)dup
|
|
|
NC_000009.11:g.(?_6550793)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6554649)_(6554801_?)del
|
|
|
NC_000009.11:g.(?_6554649)_(6645499_?)dup
|
|
|
NC_000009.11:g.(?_6558564)_(6559850_?)del
|
|
|
NC_000009.11:g.(?_6565334)_(6565449_?)dup
|
|
|
NC_000009.11:g.(?_6587121)_(6595139_?)del
|
|
|
NC_000009.11:g.(?_6587121)_(6645499_?)dup
|
|
|
NC_000009.11:g.(?_6587121)_(6645519_?)dup
|
|
|
NC_000009.11:g.(?_6587131)_(6589302_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6595129_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6595129_?)dup
|
|
|
NC_000009.11:g.(?_6587131)_(6602215_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6587181)_(6602209_?)del
|
|
|
NC_000009.11:g.(?_6592123)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6602018)_(6606679_?)del
|
|
|
NC_000009.11:g.(?_6602018)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6604804_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6605298_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6620339_?)del
|
|
|
NC_000009.11:g.(?_6602089)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6604568)_(6645499_?)dup
|
|
|
NC_000009.11:g.(?_6604578)_(6606679_?)del
|
|
|
NC_000009.11:g.(?_6604578)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6606582)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6610182)_(6610366_?)del
|
|
|
NC_000009.11:g.(?_6610182)_(6620329_?)del
|
|
|
NC_000009.11:g.(?_6610182)_(6645509_?)del
|
|
|
NC_000009.11:g.(?_6620164)_(6645499_?)dup
|
|
|
NC_000009.11:g.(?_6620164)_(6645519_?)dup
|
|
|
NC_000009.11:g.(?_6620174)_(6620329_?)dup
|
|
|
NC_000009.11:g.(?_6620184)_(6720997_?)dup
|
|
|
NC_000009.11:g.(?_6644594)_(6645499_?)del
|
|
|
NC_000009.11:g.(?_6644594)_(6645499_?)dup
|
|
|
NC_000009.12:g.(?_6532997)_(6540166_?)dup
|
|
|
NC_000009.12:g.(?_6532997)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6533007)_(6550924_?)del
|
|
|
NC_000009.12:g.(?_6533007)_(6610366_?)del
|
|
|
NC_000009.12:g.(?_6550783)_(6620339_?)del
|
|
|
NC_000009.12:g.(?_6550793)_(6610366_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6558704_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6565449_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6587121)_(6606689_?)del
|
|
|
NC_000009.12:g.(?_6587121)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6587131)_(6606679_?)del
|
|
|
NC_000009.12:g.(?_6592841)_(6620329_?)del
|
|
|
NC_000009.12:g.(?_6595004)_(6620329_?)del
|
|
|
NC_000009.12:g.(?_6604568)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6606572)_(6606689_?)del
|
|
|
NC_000009.12:g.(?_6606582)_(6606679_?)del
|
|
|
NC_000009.12:g.(?_6610172)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6620164)_(6620339_?)del
|
|
|
NC_000009.12:g.(?_6620174)_(6620329_?)del
|
|
|
NC_000009.12:g.(?_6620174)_(6645509_?)del
|
|
|
NC_000009.12:g.(?_6644594)_(6645519_?)del
|
|
|
NC_000009.12:g.(?_6644604)_(6645509_?)del
|
|
|
NC_000016.10:g.(?_81082846)_(81096298_?)del
|
|
|
NC_000016.9:g.(?_81121196)_(81129883_?)del
|
|
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
NM_000170.3(GLDC):c.1007T>C (p.Val336Ala)
|
rs1563856669
|
|
NM_000170.3(GLDC):c.1008C>A (p.Val336=)
|
|
|
NM_000170.3(GLDC):c.1009C>A (p.Arg337=)
|
|
|
NM_000170.3(GLDC):c.1011A>G (p.Arg337=)
|
rs2129895844
|
|
NM_000170.3(GLDC):c.1020G>C (p.Leu340Phe)
|
|
|
NM_000170.3(GLDC):c.1023G>A (p.Val341=)
|
rs2129895800
|
|
NM_000170.3(GLDC):c.102C>T (p.Ser34=)
|
|
|
NM_000170.3(GLDC):c.1035T>C (p.Pro345=)
|
|
|
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
|
|
|
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
|
rs1818691758
|
|
NM_000170.3(GLDC):c.1048G>C (p.Gly350Arg)
|
|
|
NM_000170.3(GLDC):c.1051del (p.Gly350_Val351insTer)
|
rs2129895643
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
|
|
|
NM_000170.3(GLDC):c.1057_1058+13del
|
|
|
NM_000170.3(GLDC):c.1058+10C>G
|
rs774499942
|
|
NM_000170.3(GLDC):c.1058+10del
|
|
|
NM_000170.3(GLDC):c.1058+12C>A
|
rs1043292818
|
|
NM_000170.3(GLDC):c.1058+12C>T
|
rs1043292818
|
|
NM_000170.3(GLDC):c.1058+13A>G
|
|
|
NM_000170.3(GLDC):c.1058+16T>C
|
|
|
NM_000170.3(GLDC):c.1058+17T>C
|
|
|
NM_000170.3(GLDC):c.1058+2T>A
|
rs1587959976
|
|
NM_000170.3(GLDC):c.1058+2T>C
|
|
|
NM_000170.3(GLDC):c.1058+9G>A
|
rs1363690964
|
|
NM_000170.3(GLDC):c.1058+9G>C
|
rs1363690964
|
|
NM_000170.3(GLDC):c.1058G>A (p.Arg353Lys)
|
|
|
NM_000170.3(GLDC):c.1059-14T>C
|
|
|
NM_000170.3(GLDC):c.1059-16C>T
|
|
|
NM_000170.3(GLDC):c.1059-1G>C
|
rs1587958061
|
|
NM_000170.3(GLDC):c.1059-4G>A
|
|
|
NM_000170.3(GLDC):c.1059-6G>A
|
|
|
NM_000170.3(GLDC):c.1059-6del
|
|
|
NM_000170.3(GLDC):c.1063G>A (p.Ala355Thr)
|
rs1291866387
|
|
NM_000170.3(GLDC):c.1064C>T (p.Ala355Val)
|
|
|
NM_000170.3(GLDC):c.1068T>C (p.Thr356=)
|
rs2129885580
|
|
NM_000170.3(GLDC):c.1069G>A (p.Gly357Arg)
|
rs941998596
|
|
NM_000170.3(GLDC):c.106G>C (p.Asp36His)
|
rs573883784
|
|
NM_000170.3(GLDC):c.1074A>G (p.Lys358=)
|
|
|
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
|
rs1818624630
|
|
NM_000170.3(GLDC):c.107A>G (p.Asp36Gly)
|
|
|
NM_000170.3(GLDC):c.1080G>A (p.Val360=)
|
rs745502236
|
|
NM_000170.3(GLDC):c.1080G>C (p.Val360=)
|
rs745502236
|
|
NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter)
|
rs2129885505
|
|
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
NM_000170.3(GLDC):c.1087C>A (p.Leu363Ile)
|
rs2129885472
|
|
NM_000170.3(GLDC):c.1089T>G (p.Leu363=)
|
|
|
NM_000170.3(GLDC):c.108C>T (p.Asp36=)
|
rs1819723828
|
|
NM_000170.3(GLDC):c.1094T>C (p.Leu365Pro)
|
|
|
NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)
|
|
|
NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)
|
|
|
NM_000170.3(GLDC):c.109A>C (p.Ser37Arg)
|
rs1819723770
|
|
NM_000170.3(GLDC):c.10T>C (p.Cys4Arg)
|
rs2130033101
|
|
NM_000170.3(GLDC):c.1100C>A (p.Thr367Asn)
|
rs1183976692
|
|
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile)
|
rs1183976692
|
|
NM_000170.3(GLDC):c.1101C>A (p.Thr367=)
|
rs2129885400
|
|
NM_000170.3(GLDC):c.1101C>T (p.Thr367=)
|
|
|
NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln)
|
rs2129885269
|
|
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
|
|
|
NM_000170.3(GLDC):c.1119G>C (p.Arg373=)
|
|
|
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr)
|
rs1300550278
|
|
NM_000170.3(GLDC):c.1128G>A (p.Lys376=)
|
rs751362445
|
|
NM_000170.3(GLDC):c.1128G>T (p.Lys376Asn)
|
|
|
NM_000170.3(GLDC):c.1137C>T (p.Ser379=)
|
rs762926339
|
|
NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr)
|
rs775502762
|
|
NM_000170.3(GLDC):c.1143C>T (p.Ile381=)
|
rs755376052
|
|
NM_000170.3(GLDC):c.1143del (p.Cys382fs)
|
|
|
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
|
|
|
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)
|
|
|
NM_000170.3(GLDC):c.1155+12G>T
|
|
|
NM_000170.3(GLDC):c.1155+14C>G
|
|
|
NM_000170.3(GLDC):c.1155+16G>A
|
|
|
NM_000170.3(GLDC):c.1155+16G>C
|
rs1370343582
|
|
NM_000170.3(GLDC):c.1155+17A>G
|
|
|
NM_000170.3(GLDC):c.1155+18C>T
|
|
|
NM_000170.3(GLDC):c.1155+7C>T
|
|
|
NM_000170.3(GLDC):c.1155+8A>C
|
rs2129885109
|
|
NM_000170.3(GLDC):c.1155+9C>G
|
rs994997633
|
|
NM_000170.3(GLDC):c.1155+9C>T
|
rs994997633
|
|
NM_000170.3(GLDC):c.1156-14T>C
|
rs1243954142
|
|
NM_000170.3(GLDC):c.1156-17A>T
|
|
|
NM_000170.3(GLDC):c.1156-20T>C
|
|
|
NM_000170.3(GLDC):c.1156-4T>G
|
rs2129862068
|
|
NM_000170.3(GLDC):c.1156-4_1156-3del
|
|
|
NM_000170.3(GLDC):c.1156-7C>A
|
rs150095531
|
|
NM_000170.3(GLDC):c.1156G>A (p.Ala386Thr)
|
|
|
NM_000170.3(GLDC):c.1158C>A (p.Ala386=)
|
|
|
NM_000170.3(GLDC):c.1158C>T (p.Ala386=)
|
|
|
NM_000170.3(GLDC):c.1161C>A (p.Leu387=)
|
rs781613958
|
|
NM_000170.3(GLDC):c.1161C>G (p.Leu387=)
|
rs781613958
|
|
NM_000170.3(GLDC):c.1162T>C (p.Leu388=)
|
|
|
NM_000170.3(GLDC):c.1167G>A (p.Ala389=)
|
rs199901045
|
|
NM_000170.3(GLDC):c.1167G>C (p.Ala389=)
|
rs199901045
|
|
NM_000170.3(GLDC):c.1179C>T (p.Ala393=)
|
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
NM_000170.3(GLDC):c.1185T>C (p.Phe395=)
|
|
|
NM_000170.3(GLDC):c.1188A>G (p.Ala396=)
|
rs2129861872
|
|
NM_000170.3(GLDC):c.118G>A (p.Gly40Ser)
|
|
|
NM_000170.3(GLDC):c.1191C>T (p.Ile397=)
|
|
|
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)
|
|
|
NM_000170.3(GLDC):c.1196A>G (p.His399Arg)
|
|
|
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe)
|
rs1563852496
|
|
NM_000170.3(GLDC):c.1203C>T (p.Ser401=)
|
rs768917100
|
|
NM_000170.3(GLDC):c.1205A>G (p.His402Arg)
|
rs763451428
|
|
NM_000170.3(GLDC):c.1206T>A (p.His402Gln)
|
rs776207334
|
|
NM_000170.3(GLDC):c.120C>A (p.Gly40=)
|
|
|
NM_000170.3(GLDC):c.120C>G (p.Gly40=)
|
rs775879413
|
|
NM_000170.3(GLDC):c.1214A>G (p.Glu405Gly)
|
rs1387648444
|
|
NM_000170.3(GLDC):c.1217A>G (p.His406Arg)
|
rs1818464686
|
|
NM_000170.3(GLDC):c.1218T>C (p.His406=)
|
rs2129861696
|
|
NM_000170.3(GLDC):c.1221T>A (p.Ile407=)
|
|
|
NM_000170.3(GLDC):c.1222G>T (p.Ala408Ser)
|
rs1387492186
|
|
NM_000170.3(GLDC):c.1227G>A (p.Arg409=)
|
rs778700604
|
|
NM_000170.3(GLDC):c.1227G>C (p.Arg409Ser)
|
|
|
NM_000170.3(GLDC):c.122del (p.Gly41fs)
|
rs2130032358
|
|
NM_000170.3(GLDC):c.1230G>T (p.Arg410Ser)
|
|
|
NM_000170.3(GLDC):c.1233A>G (p.Val411=)
|
|
|
NM_000170.3(GLDC):c.1237A>T (p.Asn413Tyr)
|
|
|
NM_000170.3(GLDC):c.1239T>C (p.Asn413=)
|
|
|
NM_000170.3(GLDC):c.1242C>G (p.Ala414=)
|
rs761471932
|
|
NM_000170.3(GLDC):c.1254G>A (p.Leu418=)
|
|
|
NM_000170.3(GLDC):c.1254G>C (p.Leu418Phe)
|
|
|
NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter)
|
rs1227030484
|
|
NM_000170.3(GLDC):c.1257A>G (p.Ser419=)
|
rs1818463744
|
|
NM_000170.3(GLDC):c.1261+12A>G
|
|
|
NM_000170.3(GLDC):c.1261+13T>C
|
|
|
NM_000170.3(GLDC):c.1261+14C>G
|
|
|
NM_000170.3(GLDC):c.1261+1G>C
|
|
|
NM_000170.3(GLDC):c.1261+2T>A
|
rs1818463608
|
|
NM_000170.3(GLDC):c.1261+3G>A
|
rs763285478
|
|
NM_000170.3(GLDC):c.1261+5G>A
|
|
|
NM_000170.3(GLDC):c.1261+6T>A
|
rs931422809
|
|
NM_000170.3(GLDC):c.1261+9G>T
|
rs2129861490
|
|
NM_000170.3(GLDC):c.1262-11A>C
|
|
|
NM_000170.3(GLDC):c.1262-11A>G
|
|
|
NM_000170.3(GLDC):c.1262-12T>C
|
|
|
NM_000170.3(GLDC):c.1262-13C>T
|
|
|
NM_000170.3(GLDC):c.1262-15T>C
|
|
|
NM_000170.3(GLDC):c.1262-16C>A
|
|
|
NM_000170.3(GLDC):c.1262-16C>T
|
|
|
NM_000170.3(GLDC):c.1262-17T>A
|
rs2129853883
|
|
NM_000170.3(GLDC):c.1262-17T>C
|
|
|
NM_000170.3(GLDC):c.1262-19G>C
|
|
|
NM_000170.3(GLDC):c.1262-19G>T
|
|
|
NM_000170.3(GLDC):c.1262-20G>A
|
|
|
NM_000170.3(GLDC):c.1262-4G>A
|
rs549797631
|
|
NM_000170.3(GLDC):c.1262-4G>T
|
rs549797631
|
|
NM_000170.3(GLDC):c.1262-7T>C
|
|
|
NM_000170.3(GLDC):c.1262-9C>T
|
|
|
NM_000170.3(GLDC):c.1262-9_1262-8insA
|
rs2129853829
|
|
NM_000170.3(GLDC):c.1263T>A (p.Gly421=)
|
rs1403086128
|
|
NM_000170.3(GLDC):c.1263T>C (p.Gly421=)
|
rs1403086128
|
|
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)
|
rs1554647026
|
|
NM_000170.3(GLDC):c.1266C>T (p.Leu422=)
|
|
|
NM_000170.3(GLDC):c.1267A>G (p.Lys423Glu)
|
|
|
NM_000170.3(GLDC):c.1269G>A (p.Lys423=)
|
rs1334975700
|
|
NM_000170.3(GLDC):c.1271G>A (p.Arg424Gln)
|
rs2129853745
|
|
NM_000170.3(GLDC):c.1272A>C (p.Arg424=)
|
|
|
NM_000170.3(GLDC):c.1274C>T (p.Ala425Val)
|
|
|
NM_000170.3(GLDC):c.1278G>A (p.Gly426=)
|
rs1554647023
|
|
NM_000170.3(GLDC):c.127G>T (p.Asp43Tyr)
|
rs1819723104
|
|
NM_000170.3(GLDC):c.1284A>C (p.Gln428His)
|
|
|
NM_000170.3(GLDC):c.1285C>G (p.Leu429Val)
|
|
|
NM_000170.3(GLDC):c.1287C>G (p.Leu429=)
|
rs2129853644
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
NM_000170.3(GLDC):c.1290G>C (p.Gln430His)
|
rs1408480389
|
|
NM_000170.3(GLDC):c.1293del (p.His431fs)
|
|
|
NM_000170.3(GLDC):c.1296C>T (p.Asp432=)
|
rs766465179
|
|
NM_000170.3(GLDC):c.130A>T (p.Ser44Cys)
|
rs2130032299
|
|
NM_000170.3(GLDC):c.1311C>G (p.Thr437=)
|
rs1317859936
|
|
NM_000170.3(GLDC):c.1311C>T (p.Thr437=)
|
rs1317859936
|
|
NM_000170.3(GLDC):c.1314G>C (p.Leu438Phe)
|
rs1286813560
|
|
NM_000170.3(GLDC):c.1319T>C (p.Ile440Thr)
|
rs386833523
|
|
NM_000170.3(GLDC):c.1323G>A (p.Gln441=)
|
|
|
NM_000170.3(GLDC):c.1326T>C (p.Cys442=)
|
|
|
NM_000170.3(GLDC):c.1336G>A (p.Val446Met)
|
|
|
NM_000170.3(GLDC):c.1338G>A (p.Val446=)
|
|
|
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met)
|
rs1161073883
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1344G>A (p.Glu448=)
|
rs758064858
|
|
NM_000170.3(GLDC):c.1353C>T (p.Gly451=)
|
|
|
NM_000170.3(GLDC):c.1356G>A (p.Arg452=)
|
rs1818404846
|
|
NM_000170.3(GLDC):c.1359C>G (p.Ala453=)
|
|
|
NM_000170.3(GLDC):c.1360G>A (p.Ala454Thr)
|
|
|
NM_000170.3(GLDC):c.1363C>A (p.Gln455Lys)
|
rs1818404451
|
|
NM_000170.3(GLDC):c.1364A>G (p.Gln455Arg)
|
|
|
NM_000170.3(GLDC):c.1368G>C (p.Arg456=)
|
|
|
NM_000170.3(GLDC):c.1370A>G (p.Gln457Arg)
|
|
|
NM_000170.3(GLDC):c.1371G>A (p.Gln457=)
|
rs2129853083
|
|
NM_000170.3(GLDC):c.1378T>G (p.Phe460Val)
|
rs2129853060
|
|
NM_000170.3(GLDC):c.1381C>A (p.Arg461=)
|
rs761957837
|
|
NM_000170.3(GLDC):c.1383G>C (p.Arg461=)
|
|
|
NM_000170.3(GLDC):c.1386T>C (p.Leu462=)
|
|
|
NM_000170.3(GLDC):c.1388T>C (p.Phe463Ser)
|
rs1818403390
|
|
NM_000170.3(GLDC):c.1394A>G (p.Asp465Gly)
|
rs2129852952
|
|
NM_000170.3(GLDC):c.1398C>A (p.Gly466=)
|
|
|
NM_000170.3(GLDC):c.139G>A (p.Ala47Thr)
|
|
|
NM_000170.3(GLDC):c.139G>C (p.Ala47Pro)
|
|
|
NM_000170.3(GLDC):c.13G>T (p.Ala5Ser)
|
|
|
NM_000170.3(GLDC):c.1401+10del
|
|
|
NM_000170.3(GLDC):c.1401+17G>A
|
|
|
NM_000170.3(GLDC):c.1401+17G>C
|
rs2129852854
|
|
NM_000170.3(GLDC):c.1401+18T>C
|
|
|
NM_000170.3(GLDC):c.1401+19A>G
|
|
|
NM_000170.3(GLDC):c.1401+5G>T
|
|
|
NM_000170.3(GLDC):c.1402-12G>C
|
|
|
NM_000170.3(GLDC):c.1402-13T>G
|
|
|
NM_000170.3(GLDC):c.1402-14T>A
|
|
|
NM_000170.3(GLDC):c.1402-16G>T
|
|
|
NM_000170.3(GLDC):c.1402-1G>A
|
rs386833525
|
|
NM_000170.3(GLDC):c.1402-3T>G
|
|
|
NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro)
|
rs2129850481
|
|
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
|
|
|
NM_000170.3(GLDC):c.1413T>C (p.Ser471=)
|
|
|
NM_000170.3(GLDC):c.1416T>C (p.Leu472=)
|
|
|
NM_000170.3(GLDC):c.1419T>C (p.Asp473=)
|
rs2129850459
|
|
NM_000170.3(GLDC):c.141T>A (p.Ala47=)
|
rs1819722643
|
|
NM_000170.3(GLDC):c.141T>G (p.Ala47=)
|
|
|
NM_000170.3(GLDC):c.1428C>A (p.Val476=)
|
|
|
NM_000170.3(GLDC):c.1438del (p.Asp480fs)
|
|
|
NM_000170.3(GLDC):c.1441C>T (p.Leu481=)
|
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
NM_000170.3(GLDC):c.1446C>G (p.Asp482Glu)
|
rs201147701
|
|
NM_000170.3(GLDC):c.1450T>C (p.Leu484=)
|
|
|
NM_000170.3(GLDC):c.1455G>A (p.Leu485=)
|
|
|
NM_000170.3(GLDC):c.145G>T (p.Ala49Ser)
|
|
|
NM_000170.3(GLDC):c.1464T>C (p.Phe488=)
|
|
|
NM_000170.3(GLDC):c.1466G>A (p.Gly489Asp)
|
rs767519430
|
|
NM_000170.3(GLDC):c.1470T>G (p.Cys490Trp)
|
rs1183108459
|
|
NM_000170.3(GLDC):c.1471G>A (p.Glu491Lys)
|
rs1818387020
|
|
NM_000170.3(GLDC):c.1476A>T (p.Ser492=)
|
rs768290485
|
|
NM_000170.3(GLDC):c.1479T>C (p.Ser493=)
|
|
|
NM_000170.3(GLDC):c.147C>A (p.Ala49=)
|
|
|
NM_000170.3(GLDC):c.147C>G (p.Ala49=)
|
|
|
NM_000170.3(GLDC):c.1482+11T>C
|
|
|
NM_000170.3(GLDC):c.1482+18A>C
|
rs770032700
|
|
NM_000170.3(GLDC):c.1482+18A>G
|
|
|
NM_000170.3(GLDC):c.1482+20G>A
|
|
|
NM_000170.3(GLDC):c.1482+6T>C
|
|
|
NM_000170.3(GLDC):c.1483-13G>A
|
|
|
NM_000170.3(GLDC):c.1483-13_1483-12del
|
|
|
NM_000170.3(GLDC):c.1483-16dup
|
|
|
NM_000170.3(GLDC):c.1483-19C>G
|
|
|
NM_000170.3(GLDC):c.1483-19C>T
|
|
|
NM_000170.3(GLDC):c.1483-3C>G
|
|
|
NM_000170.3(GLDC):c.1483-5T>C
|
rs2129840025
|
|
NM_000170.3(GLDC):c.1483-7C>T
|
rs1818331244
|
|
NM_000170.3(GLDC):c.1483-9C>T
|
rs2129840047
|
|
NM_000170.3(GLDC):c.1483G>C (p.Glu495Gln)
|
rs1554646734
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.1488G>T (p.Leu496=)
|
|
|
NM_000170.3(GLDC):c.1489G>A (p.Val497Ile)
|
|
|
NM_000170.3(GLDC):c.1489G>T (p.Val497Phe)
|
rs1389059785
|
|
NM_000170.3(GLDC):c.1491T>C (p.Val497=)
|
|
|
NM_000170.3(GLDC):c.1495G>A (p.Glu499Lys)
|
|
|
NM_000170.3(GLDC):c.1505G>C (p.Gly502Ala)
|
|
|
NM_000170.3(GLDC):c.150G>T (p.Ser50=)
|
rs768354829
|
|
NM_000170.3(GLDC):c.1512G>C (p.Glu504Asp)
|
|
|
NM_000170.3(GLDC):c.1514G>A (p.Cys505Tyr)
|
|
|
NM_000170.3(GLDC):c.1515C>T (p.Cys505=)
|
rs2129839857
|
|
NM_000170.3(GLDC):c.1530G>C (p.Gly510=)
|
|
|
NM_000170.3(GLDC):c.1530G>T (p.Gly510=)
|
|
|
NM_000170.3(GLDC):c.1536G>T (p.Val512=)
|
|
|
NM_000170.3(GLDC):c.1539C>G (p.Phe513Leu)
|
|
|
NM_000170.3(GLDC):c.153C>T (p.Arg51=)
|
|
|
NM_000170.3(GLDC):c.1543A>C (p.Arg515=)
|
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1551C>T (p.Ser517=)
|
rs750825656
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1554G>A (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1554G>T (p.Pro518=)
|
|
|
NM_000170.3(GLDC):c.1563C>A (p.Thr521=)
|
rs768689997
|
|
NM_000170.3(GLDC):c.1563C>T (p.Thr521=)
|
rs768689997
|
|
NM_000170.3(GLDC):c.1566T>A (p.His522Gln)
|
|
|
NM_000170.3(GLDC):c.156C>A (p.Leu52=)
|
rs779860452
|
|
NM_000170.3(GLDC):c.1576A>C (p.Asn526His)
|
rs898444750
|
|
NM_000170.3(GLDC):c.1576A>T (p.Asn526Tyr)
|
|
|
NM_000170.3(GLDC):c.1579A>C (p.Ser527Arg)
|
|
|
NM_000170.3(GLDC):c.1580+13T>C
|
rs1563849682
|
|
NM_000170.3(GLDC):c.1580+15T>G
|
|
|
NM_000170.3(GLDC):c.1580+16G>T
|
rs1818327175
|
|
NM_000170.3(GLDC):c.1580+17T>C
|
|
|
NM_000170.3(GLDC):c.1580+17T>G
|
|
|
NM_000170.3(GLDC):c.1580+1G>C
|
|
|
NM_000170.3(GLDC):c.1580+2T>G
|
rs1554646710
|
|
NM_000170.3(GLDC):c.1580+7G>A
|
|
|
NM_000170.3(GLDC):c.1580+7G>C
|
rs1205124797
|
|
NM_000170.3(GLDC):c.1580+7G>T
|
|
|
NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr)
|
rs1247180998
|
|
NM_000170.3(GLDC):c.1581-10G>A
|
|
|
NM_000170.3(GLDC):c.1581-17G>C
|
|
|
NM_000170.3(GLDC):c.1581-19C>T
|
|
|
NM_000170.3(GLDC):c.1581-42_1665+5del
|
rs2129837171
|
|
NM_000170.3(GLDC):c.1581-5C>G
|
rs184463452
|
|
NM_000170.3(GLDC):c.1581-8G>A
|
|
|
NM_000170.3(GLDC):c.1587C>T (p.His529=)
|
|
|
NM_000170.3(GLDC):c.1590T>C (p.Ser530=)
|
rs2129837600
|
|
NM_000170.3(GLDC):c.1593A>G (p.Glu531=)
|
|
|
NM_000170.3(GLDC):c.1596A>C (p.Thr532=)
|
rs2129837578
|
|
NM_000170.3(GLDC):c.159G>A (p.Leu53=)
|
|
|
NM_000170.3(GLDC):c.15C>A (p.Ala5=)
|
rs1217742509
|
|
NM_000170.3(GLDC):c.1600A>G (p.Ile534Val)
|
|
|
NM_000170.3(GLDC):c.1602T>C (p.Ile534=)
|
rs201758383
|
|
NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)
|
|
|
NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter)
|
rs1818317328
|
|
NM_000170.3(GLDC):c.1611C>T (p.Tyr537=)
|
|
|
NM_000170.3(GLDC):c.1621C>T (p.Leu541=)
|
|
|
NM_000170.3(GLDC):c.1623G>T (p.Leu541=)
|
|
|
NM_000170.3(GLDC):c.1629del (p.Asn543fs)
|
rs1345599468
|
|
NM_000170.3(GLDC):c.1630A>G (p.Lys544Glu)
|
|
|
NM_000170.3(GLDC):c.1635C>G (p.Asp545Glu)
|
rs2129837376
|
|
NM_000170.3(GLDC):c.1635C>T (p.Asp545=)
|
rs2129837376
|
|
NM_000170.3(GLDC):c.1636del (p.Ile546fs)
|
rs1818316799
|
|
NM_000170.3(GLDC):c.1638_1655del (p.Ile546_Ser551del)
|
|
|
NM_000170.3(GLDC):c.1641C>T (p.Ser547=)
|
|
|
NM_000170.3(GLDC):c.1644T>C (p.Leu548=)
|
rs750071045
|
|
NM_000170.3(GLDC):c.164G>A (p.Arg55His)
|
rs1195896229
|
|
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
|
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1658T>G (p.Ile553Ser)
|
rs2129837261
|
|
NM_000170.3(GLDC):c.165C>T (p.Arg55=)
|
rs1481397059
|
|
NM_000170.3(GLDC):c.1661C>T (p.Pro554Leu)
|
rs1244239144
|
|
NM_000170.3(GLDC):c.1662A>G (p.Pro554=)
|
rs547588947
|
|
NM_000170.3(GLDC):c.1665+11G>C
|
|
|
NM_000170.3(GLDC):c.1665+12T>C
|
|
|
NM_000170.3(GLDC):c.1665+14G>A
|
|
|
NM_000170.3(GLDC):c.1665+16C>T
|
|
|
NM_000170.3(GLDC):c.1665+17T>G
|
|
|
NM_000170.3(GLDC):c.1665+1G>A
|
rs267602258
|
|
NM_000170.3(GLDC):c.1665+2del
|
|
|
NM_000170.3(GLDC):c.1665+7A>G
|
|
|
NM_000170.3(GLDC):c.1665+8T>C
|
|
|
NM_000170.3(GLDC):c.1666-13G>A
|
|
|
NM_000170.3(GLDC):c.1666-15A>G
|
|
|
NM_000170.3(GLDC):c.1666-1G>A
|
|
|
NM_000170.3(GLDC):c.1666-6T>A
|
|
|
NM_000170.3(GLDC):c.1666-8T>C
|
rs2129836483
|
|
NM_000170.3(GLDC):c.1668A>G (p.Gly556=)
|
rs760801304
|
|
NM_000170.3(GLDC):c.1671C>G (p.Ser557=)
|
rs2129836432
|
|
NM_000170.3(GLDC):c.1674C>T (p.Cys558=)
|
rs1469574000
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1677C>A (p.Thr559=)
|
|
|
NM_000170.3(GLDC):c.1678A>G (p.Met560Val)
|
rs1818312039
|
|
NM_000170.3(GLDC):c.1686G>A (p.Leu562=)
|
|
|
NM_000170.3(GLDC):c.1689C>G (p.Asn563Lys)
|
rs546431385
|
|
NM_000170.3(GLDC):c.168T>C (p.Leu56=)
|
|
|
NM_000170.3(GLDC):c.1697C>A (p.Ser566Tyr)
|
|
|
NM_000170.3(GLDC):c.1698T>G (p.Ser566=)
|
rs2129836314
|
|
NM_000170.3(GLDC):c.16A>C (p.Arg6=)
|
|
|
NM_000170.3(GLDC):c.1704C>T (p.Leu568=)
|
rs919319637
|
|
NM_000170.3(GLDC):c.1705G>C (p.Ala569Pro)
|
rs151268759
|
|
NM_000170.3(GLDC):c.1706C>T (p.Ala569Val)
|
rs1263586630
|
|
NM_000170.3(GLDC):c.1707+11C>T
|
rs2129836174
|
|
NM_000170.3(GLDC):c.1707+12A>T
|
|
|
NM_000170.3(GLDC):c.1707+13C>T
|
|
|
NM_000170.3(GLDC):c.1707+17T>C
|
|
|
NM_000170.3(GLDC):c.1707+18G>A
|
|
|
NM_000170.3(GLDC):c.1708-18T>C
|
|
|
NM_000170.3(GLDC):c.1708-9T>G
|
rs2129832194
|
|
NM_000170.3(GLDC):c.1708C>G (p.Pro570Ala)
|
rs1289915951
|
|
NM_000170.3(GLDC):c.1709del (p.Pro570fs)
|
|
|
NM_000170.3(GLDC):c.1711A>G (p.Ile571Val)
|
|
|
NM_000170.3(GLDC):c.1714A>G (p.Thr572Ala)
|
|
|
NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter)
|
rs959935793
|
|
NM_000170.3(GLDC):c.1722A>C (p.Lys574Asn)
|
rs1554646530
|
|
NM_000170.3(GLDC):c.1722A>G (p.Lys574=)
|
|
|
NM_000170.3(GLDC):c.1729G>A (p.Ala577Thr)
|
rs1818290393
|
|
NM_000170.3(GLDC):c.172C>T (p.Pro58Ser)
|
rs780963698
|
|
NM_000170.3(GLDC):c.1731A>C (p.Ala577=)
|
|
|
NM_000170.3(GLDC):c.1735A>G (p.Ile579Val)
|
rs2129832016
|
|
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)
|
rs1164241828
|
|
NM_000170.3(GLDC):c.1740C>G (p.His580Gln)
|
rs1587946346
|
|
NM_000170.3(GLDC):c.1740C>T (p.His580=)
|
rs1587946346
|
|
NM_000170.3(GLDC):c.1743C>A (p.Pro581=)
|
|
|
NM_000170.3(GLDC):c.1743C>T (p.Pro581=)
|
|
|
NM_000170.3(GLDC):c.1749G>A (p.Val583=)
|
|
|
NM_000170.3(GLDC):c.174C>T (p.Pro58=)
|
|
|
NM_000170.3(GLDC):c.1756G>T (p.Asp586Tyr)
|
rs1042809307
|
|
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter)
|
rs1818289368
|
|
NM_000170.3(GLDC):c.176G>A (p.Arg59Lys)
|
rs386833530
|
|
NM_000170.3(GLDC):c.1773T>C (p.Tyr591=)
|
rs2129831810
|
|
NM_000170.3(GLDC):c.1776G>A (p.Gln592=)
|
|
|
NM_000170.3(GLDC):c.1779G>C (p.Gln593His)
|
|
|
NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter)
|
rs2129831711
|
|
NM_000170.3(GLDC):c.1797G>A (p.Glu599=)
|
rs1587946274
|
|
NM_000170.3(GLDC):c.1801G>C (p.Asp601His)
|
|
|
NM_000170.3(GLDC):c.1806G>A (p.Leu602=)
|
rs2129831668
|
|
NM_000170.3(GLDC):c.180C>T (p.His60=)
|
|
|
NM_000170.3(GLDC):c.1816A>G (p.Thr606Ala)
|
rs2129831606
|
|
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del)
|
rs1554652789
|
|
NM_000170.3(GLDC):c.1820G>C (p.Gly607Ala)
|
rs1818288295
|
|
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
|
|
|
NM_000170.3(GLDC):c.1829A>G (p.Gln610Arg)
|
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
NM_000170.3(GLDC):c.1833C>T (p.Val611=)
|
|
|
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
|
rs375497905
|
|
NM_000170.3(GLDC):c.183C>T (p.Asp61=)
|
rs375497905
|
|
NM_000170.3(GLDC):c.1842G>T (p.Gln614His)
|
|
|
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr)
|
rs2129831448
|
|
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu)
|
rs2129831443
|
|
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)
|
rs2129831435
|
|
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
|
|
|
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile)
|
rs1818287644
|
|
NM_000170.3(GLDC):c.184G>T (p.Asp62Tyr)
|
rs2130032047
|
|
NM_000170.3(GLDC):c.1850+12del
|
|
|
NM_000170.3(GLDC):c.1850+14T>C
|
|
|
NM_000170.3(GLDC):c.1850+17T>C
|
|
|
NM_000170.3(GLDC):c.1850+18C>G
|
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1850+1del
|
rs1399754800
|
|
NM_000170.3(GLDC):c.1850+6G>A
|
|
|
NM_000170.3(GLDC):c.1850+8C>A
|
rs1326427792
|
|
NM_000170.3(GLDC):c.1850+8C>T
|
rs1326427792
|
|
NM_000170.3(GLDC):c.1850+9A>G
|
rs2129831335
|
|
NM_000170.3(GLDC):c.1850G>C (p.Ser617Thr)
|
|
|
NM_000170.3(GLDC):c.1851-14_1851-12del
|
|
|
NM_000170.3(GLDC):c.1851-1G>A
|
|
|
NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter)
|
rs758575745
|
|
NM_000170.3(GLDC):c.1862del (p.Gly621fs)
|
rs1449126451
|
|
NM_000170.3(GLDC):c.1863A>T (p.Gly621=)
|
|
|
NM_000170.3(GLDC):c.1868A>T (p.Tyr623Phe)
|
rs2129758401
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.1869T>C (p.Tyr623=)
|
rs2129758380
|
|
NM_000170.3(GLDC):c.186C>T (p.Asp62=)
|
rs1462209032
|
|
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly)
|
rs779980470
|
|
NM_000170.3(GLDC):c.1881C>G (p.Ala627=)
|
rs2129758314
|
|
NM_000170.3(GLDC):c.1885A>G (p.Ile629Val)
|
rs761680597
|
|
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro)
|
rs763517274
|
|
NM_000170.3(GLDC):c.1893C>G (p.Ala631=)
|
|
|
NM_000170.3(GLDC):c.1893C>T (p.Ala631=)
|
rs565751857
|
|
NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter)
|
rs1272244088
|
|
NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter)
|
rs2129758221
|
|
NM_000170.3(GLDC):c.189C>T (p.Phe63=)
|
|
|
NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter)
|
rs2129758198
|
|
NM_000170.3(GLDC):c.1908A>G (p.Lys636=)
|
rs552960907
|
|
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
|
rs141601131
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
NM_000170.3(GLDC):c.1910G>A (p.Gly637Glu)
|
rs759852256
|
|
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp)
|
rs1200000126
|
|
NM_000170.3(GLDC):c.1917G>T (p.Gly639=)
|
|
|
NM_000170.3(GLDC):c.1923A>G (p.Arg641=)
|
|
|
NM_000170.3(GLDC):c.1926+12A>G
|
|
|
NM_000170.3(GLDC):c.1926+14G>T
|
|
|
NM_000170.3(GLDC):c.1926+17G>A
|
|
|
NM_000170.3(GLDC):c.1926+19G>C
|
|
|
NM_000170.3(GLDC):c.1926+3G>T
|
rs1563839674
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1926+8T>C
|
rs1268260237
|
|
NM_000170.3(GLDC):c.1927-10T>C
|
|
|
NM_000170.3(GLDC):c.1927-11C>G
|
|
|
NM_000170.3(GLDC):c.1927-12T>G
|
|
|
NM_000170.3(GLDC):c.1927-13T>G
|
|
|
NM_000170.3(GLDC):c.1927-14T>C
|
|
|
NM_000170.3(GLDC):c.1927-15C>G
|
|
|
NM_000170.3(GLDC):c.1927-16C>G
|
rs1817685878
|
|
NM_000170.3(GLDC):c.1927-19C>T
|
|
|
NM_000170.3(GLDC):c.1927-1G>A
|
rs2129735367
|
|
NM_000170.3(GLDC):c.1927-21_1927-17del
|
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000170.3(GLDC):c.1927-6C>T
|
|
|
NM_000170.3(GLDC):c.1927-7T>C
|
rs1174878870
|
|
NM_000170.3(GLDC):c.1927-8T>C
|
|
|
NM_000170.3(GLDC):c.1929T>G (p.Val643=)
|
|
|
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)
|
rs386833535
|
|
NM_000170.3(GLDC):c.1935C>A (p.Leu645=)
|
|
|
NM_000170.3(GLDC):c.1935C>G (p.Leu645=)
|
rs1192928029
|
|
NM_000170.3(GLDC):c.1935C>T (p.Leu645=)
|
rs1192928029
|
|
NM_000170.3(GLDC):c.1944del (p.Lys648fs)
|
|
|
NM_000170.3(GLDC):c.1947A>G (p.Ser649=)
|
|
|
NM_000170.3(GLDC):c.194G>A (p.Arg65Gln)
|
|
|
NM_000170.3(GLDC):c.194G>C (p.Arg65Pro)
|
|
|
NM_000170.3(GLDC):c.1950A>G (p.Ala650=)
|
rs1458021364
|
|
NM_000170.3(GLDC):c.1951C>G (p.His651Asp)
|
rs2129735272
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.1956G>A (p.Gly652=)
|
|
|
NM_000170.3(GLDC):c.1959C>T (p.Thr653=)
|
rs2129735219
|
|
NM_000170.3(GLDC):c.195G>C (p.Arg65=)
|
rs2130031993
|
|
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)
|
rs1301895668
|
|
NM_000170.3(GLDC):c.1971T>C (p.Ser657=)
|
|
|
NM_000170.3(GLDC):c.1974C>T (p.Ala658=)
|
rs534062853
|
|
NM_000170.3(GLDC):c.1975C>T (p.His659Tyr)
|
|
|
NM_000170.3(GLDC):c.1978A>G (p.Met660Val)
|
|
|
NM_000170.3(GLDC):c.197G>C (p.Arg66Thr)
|
|
|
NM_000170.3(GLDC):c.197_198delinsAA (p.Arg66Lys)
|
rs1554652780
|
|
NM_000170.3(GLDC):c.1983A>T (p.Ala661=)
|
|
|
NM_000170.3(GLDC):c.1998G>A (p.Gln666=)
|
|
|
NM_000170.3(GLDC):c.2000C>T (p.Pro667Leu)
|
|
|
NM_000170.3(GLDC):c.2001T>C (p.Pro667=)
|
|
|
NM_000170.3(GLDC):c.2008G>C (p.Val670Leu)
|
rs767864486
|
|
NM_000170.3(GLDC):c.2010G>A (p.Val670=)
|
rs368248411
|
|
NM_000170.3(GLDC):c.2010G>C (p.Val670=)
|
rs368248411
|
|
NM_000170.3(GLDC):c.2011G>C (p.Asp671His)
|
rs2129734998
|
|
NM_000170.3(GLDC):c.2013T>G (p.Asp671Glu)
|
|
|
NM_000170.3(GLDC):c.2017T>C (p.Tyr673His)
|
|
|
NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter)
|
rs774506115
|
|
NM_000170.3(GLDC):c.2020G>T (p.Gly674Trp)
|
rs2129734932
|
|
NM_000170.3(GLDC):c.2025T>C (p.Asn675=)
|
|
|
NM_000170.3(GLDC):c.2029G>A (p.Asp677Asn)
|
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2034A>G (p.Ala678=)
|
|
|
NM_000170.3(GLDC):c.2041C>A (p.Leu681Ile)
|
rs753457618
|
|
NM_000170.3(GLDC):c.2043C>G (p.Leu681=)
|
|
|
NM_000170.3(GLDC):c.2043C>T (p.Leu681=)
|
rs72695507
|
|
NM_000170.3(GLDC):c.2045A>G (p.Lys682Arg)
|
rs1305077560
|
|
NM_000170.3(GLDC):c.2047G>A (p.Ala683Thr)
|
rs2129734759
|
|
NM_000170.3(GLDC):c.2049C>G (p.Ala683=)
|
|
|
NM_000170.3(GLDC):c.204C>A (p.Ile68=)
|
|
|
NM_000170.3(GLDC):c.204C>T (p.Ile68=)
|
rs2130031955
|
|
NM_000170.3(GLDC):c.2052+10T>C
|
|
|
NM_000170.3(GLDC):c.2052+11_2052+13del
|
|
|
NM_000170.3(GLDC):c.2052+12C>G
|
|
|
NM_000170.3(GLDC):c.2052+13T>A
|
|
|
NM_000170.3(GLDC):c.2052+13T>C
|
|
|
NM_000170.3(GLDC):c.2052+16T>G
|
rs1817682144
|
|
NM_000170.3(GLDC):c.2052+1G>A
|
rs765906340
|
|
NM_000170.3(GLDC):c.2052+20C>T
|
|
|
NM_000170.3(GLDC):c.2052+4C>T
|
|
|
NM_000170.3(GLDC):c.2052+6T>C
|
rs1421593264
|
|
NM_000170.3(GLDC):c.2052+8T>A
|
rs2129734705
|
|
NM_000170.3(GLDC):c.2053-11T>C
|
|
|
NM_000170.3(GLDC):c.2053-15C>T
|
|
|
NM_000170.3(GLDC):c.2053-16C>A
|
|
|
NM_000170.3(GLDC):c.2053-17C>A
|
|
|
NM_000170.3(GLDC):c.2053-17C>T
|
|
|
NM_000170.3(GLDC):c.2053-18A>G
|
|
|
NM_000170.3(GLDC):c.2053-2A>C
|
rs1323060528
|
|
NM_000170.3(GLDC):c.2053-2A>G
|
|
|
NM_000170.3(GLDC):c.2053-9C>A
|
rs2129726722
|
|
NM_000170.3(GLDC):c.2053-9C>G
|
|
|
NM_000170.3(GLDC):c.2061G>A (p.Lys687=)
|
rs1817630045
|
|
NM_000170.3(GLDC):c.2063A>C (p.His688Pro)
|
rs759659824
|
|
NM_000170.3(GLDC):c.2063A>G (p.His688Arg)
|
rs759659824
|
|
NM_000170.3(GLDC):c.2074C>G (p.Leu692Val)
|
|
|
NM_000170.3(GLDC):c.2074C>T (p.Leu692=)
|
|
|
NM_000170.3(GLDC):c.2085C>A (p.Ile695=)
|
rs145547090
|
|
NM_000170.3(GLDC):c.2085C>G (p.Ile695Met)
|
|
|
NM_000170.3(GLDC):c.2085C>T (p.Ile695=)
|
rs145547090
|
|
NM_000170.3(GLDC):c.2086A>G (p.Met696Val)
|
|
|
NM_000170.3(GLDC):c.2086A>T (p.Met696Leu)
|
rs371447782
|
|
NM_000170.3(GLDC):c.2088G>A (p.Met696Ile)
|
|
|
NM_000170.3(GLDC):c.2090T>C (p.Ile697Thr)
|
|
|
NM_000170.3(GLDC):c.2091T>G (p.Ile697Met)
|
rs2129726512
|
|
NM_000170.3(GLDC):c.2094A>C (p.Thr698=)
|
rs779427031
|
|
NM_000170.3(GLDC):c.2094A>G (p.Thr698=)
|
|
|
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
|
rs776730073
|
|
NM_000170.3(GLDC):c.209C>G (p.Pro70Arg)
|
rs776730073
|
|
NM_000170.3(GLDC):c.209del (p.Pro70fs)
|
|
|
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
|
rs1420734296
|
|
NM_000170.3(GLDC):c.2109T>C (p.Asn703=)
|
|
|
NM_000170.3(GLDC):c.210T>C (p.Pro70=)
|
rs1170354400
|
|
NM_000170.3(GLDC):c.2112G>A (p.Gly704=)
|
rs1817628881
|
|
NM_000170.3(GLDC):c.2113del (p.Val705fs)
|
rs2129726392
|
|
NM_000170.3(GLDC):c.2115G>C (p.Val705=)
|
rs765205689
|
|
NM_000170.3(GLDC):c.2121A>G (p.Glu707=)
|
|
|
NM_000170.3(GLDC):c.2125A>G (p.Asn709Asp)
|
|
|
NM_000170.3(GLDC):c.2127C>T (p.Asn709=)
|
rs753895623
|
|
NM_000170.3(GLDC):c.2134_2135insT (p.Asp712fs)
|
|
|
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu)
|
rs762761551
|
|
NM_000170.3(GLDC):c.2136C>T (p.Asp712=)
|
rs762761551
|
|
NM_000170.3(GLDC):c.2142T>C (p.Cys714=)
|
|
|
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
|
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
NM_000170.3(GLDC):c.214G>C (p.Asp72His)
|
|
|
NM_000170.3(GLDC):c.214G>T (p.Asp72Tyr)
|
rs1819720191
|
|
NM_000170.3(GLDC):c.2159A>G (p.His720Arg)
|
|
|
NM_000170.3(GLDC):c.2160T>C (p.His720=)
|
rs758841885
|
|
NM_000170.3(GLDC):c.2161G>A (p.Gly721Arg)
|
rs1587924821
|
|
NM_000170.3(GLDC):c.2162G>C (p.Gly721Ala)
|
rs2129726062
|
|
NM_000170.3(GLDC):c.2163A>G (p.Gly721=)
|
rs748569405
|
|
NM_000170.3(GLDC):c.2167C>G (p.Gln723Glu)
|
|
|
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)
|
rs779434645
|
|
NM_000170.3(GLDC):c.2172C>G (p.Val724=)
|
rs753855821
|
|
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter)
|
rs147951756
|
|
NM_000170.3(GLDC):c.2176del (p.Tyr725_Leu726insTer)
|
rs2129725961
|
|
NM_000170.3(GLDC):c.2179G>C (p.Asp727His)
|
rs2129725947
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)
|
|
|
NM_000170.3(GLDC):c.2187A>G (p.Ala729=)
|
|
|
NM_000170.3(GLDC):c.2190T>A (p.Asn730Lys)
|
|
|
NM_000170.3(GLDC):c.2191A>G (p.Met731Val)
|
rs545419197
|
|
NM_000170.3(GLDC):c.2196T>C (p.Asn732=)
|
rs386833544
|
|
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr)
|
rs2129725849
|
|
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
|
|
|
NM_000170.3(GLDC):c.2201A>G (p.Gln734Arg)
|
rs1817625875
|
|
NM_000170.3(GLDC):c.2202+13G>C
|
rs1288374750
|
|
NM_000170.3(GLDC):c.2202+16G>C
|
|
|
NM_000170.3(GLDC):c.2202+17C>G
|
rs1014629026
|
|
NM_000170.3(GLDC):c.2202+17C>T
|
|
|
NM_000170.3(GLDC):c.2202+19C>A
|
|
|
NM_000170.3(GLDC):c.2202+7A>G
|
|
|
NM_000170.3(GLDC):c.2203-11C>A
|
|
|
NM_000170.3(GLDC):c.2203-11C>G
|
|
|
NM_000170.3(GLDC):c.2203-14T>C
|
|
|
NM_000170.3(GLDC):c.2203-16C>G
|
|
|
NM_000170.3(GLDC):c.2203-17C>T
|
|
|
NM_000170.3(GLDC):c.2203-18C>A
|
|
|
NM_000170.3(GLDC):c.2203-18C>G
|
|
|
NM_000170.3(GLDC):c.2203-18C>T
|
|
|
NM_000170.3(GLDC):c.2203-1G>A
|
|
|
NM_000170.3(GLDC):c.2203-20G>A
|
rs1290189679
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2203-2A>T
|
|
|
NM_000170.3(GLDC):c.2203-4G>A
|
rs2129720252
|
|
NM_000170.3(GLDC):c.2203-6T>C
|
|
|
NM_000170.3(GLDC):c.2203-8_2203-6dup
|
|
|
NM_000170.3(GLDC):c.2205G>A (p.Val735=)
|
|
|
NM_000170.3(GLDC):c.2211C>T (p.Ile737=)
|
rs1587923448
|
|
NM_000170.3(GLDC):c.2217C>T (p.Arg739=)
|
rs757437950
|
|
NM_000170.3(GLDC):c.2218C>G (p.Pro740Ala)
|
|
|
NM_000170.3(GLDC):c.2219C>G (p.Pro740Arg)
|
|
|
NM_000170.3(GLDC):c.2225_2232del (p.Asp742fs)
|
rs1817584930
|
|
NM_000170.3(GLDC):c.2232G>A (p.Gly744=)
|
|
|
NM_000170.3(GLDC):c.2232G>T (p.Gly744=)
|
|
|
NM_000170.3(GLDC):c.2234C>G (p.Ser745Cys)
|
rs1398537221
|
|
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
|
|
|
NM_000170.3(GLDC):c.2236G>C (p.Asp746His)
|
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
NM_000170.3(GLDC):c.2238T>C (p.Asp746=)
|
|
|
NM_000170.3(GLDC):c.2241C>G (p.Val747=)
|
rs375733985
|
|
NM_000170.3(GLDC):c.2247C>T (p.His749=)
|
|
|
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg)
|
rs1819719916
|
|
NM_000170.3(GLDC):c.2256T>C (p.Leu752=)
|
rs1587923380
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
NM_000170.3(GLDC):c.2259C>T (p.His753=)
|
|
|
NM_000170.3(GLDC):c.225G>A (p.Gln75=)
|
|
|
NM_000170.3(GLDC):c.226A>C (p.Arg76=)
|
rs2130031859
|
|
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
|
|
|
NM_000170.3(GLDC):c.2277C>A (p.Pro759=)
|
|
|
NM_000170.3(GLDC):c.2277C>T (p.Pro759=)
|
rs970388208
|
|
NM_000170.3(GLDC):c.2278dup (p.His760fs)
|
rs1563834980
|
|
NM_000170.3(GLDC):c.2279A>T (p.His760Leu)
|
rs1817583687
|
|
NM_000170.3(GLDC):c.2283A>G (p.Gly761=)
|
rs1554643744
|
|
NM_000170.3(GLDC):c.2286A>G (p.Gly762=)
|
rs2129719766
|
|
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
|
|
|
NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp)
|
rs1374110692
|
|
NM_000170.3(GLDC):c.2292T>C (p.Gly764=)
|
rs2129719724
|
|
NM_000170.3(GLDC):c.2295T>C (p.Pro765=)
|
rs1817583288
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2298C>T (p.Gly766=)
|
rs1031003330
|
|
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala)
|
rs2129719653
|
|
NM_000170.3(GLDC):c.2304G>C (p.Gly768=)
|
|
|
NM_000170.3(GLDC):c.2304G>T (p.Gly768=)
|
rs533775952
|
|
NM_000170.3(GLDC):c.2305C>G (p.Pro769Ala)
|
|
|
NM_000170.3(GLDC):c.2307C>A (p.Pro769=)
|
rs565834029
|
|
NM_000170.3(GLDC):c.2310C>A (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2310del (p.Ile770fs)
|
rs2129719586
|
|
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala)
|
rs760077981
|
|
NM_000170.3(GLDC):c.2315+10G>A
|
|
|
NM_000170.3(GLDC):c.2315+13C>A
|
|
|
NM_000170.3(GLDC):c.2315+16C>T
|
|
|
NM_000170.3(GLDC):c.2315+19G>C
|
|
|
NM_000170.3(GLDC):c.2315+20T>C
|
rs1212346753
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2315+6T>C
|
rs1817582202
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-18C>T
|
rs1330113346
|
|
NM_000170.3(GLDC):c.2316-5dup
|
|
|
NM_000170.3(GLDC):c.2316-6del
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.231G>C (p.Glu77Asp)
|
|
|
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr)
|
rs1554643619
|
|
NM_000170.3(GLDC):c.2329G>A (p.Ala777Thr)
|
|
|
NM_000170.3(GLDC):c.2329G>T (p.Ala777Ser)
|
|
|
NM_000170.3(GLDC):c.2331C>T (p.Ala777=)
|
|
|
NM_000170.3(GLDC):c.2333C>G (p.Pro778Arg)
|
rs754670348
|
|
NM_000170.3(GLDC):c.2333C>T (p.Pro778Leu)
|
rs754670348
|
|
NM_000170.3(GLDC):c.2334G>C (p.Pro778=)
|
rs191795314
|
|
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
|
rs1817557171
|
|
NM_000170.3(GLDC):c.233T>C (p.Met78Thr)
|
rs2130031822
|
|
NM_000170.3(GLDC):c.2345A>G (p.Asn782Ser)
|
|
|
NM_000170.3(GLDC):c.234G>C (p.Met78Ile)
|
rs1282813808
|
|
NM_000170.3(GLDC):c.2352C>G (p.Pro784=)
|
rs367781728
|
|
NM_000170.3(GLDC):c.2353G>A (p.Val785Ile)
|
rs372101832
|
|
NM_000170.3(GLDC):c.2355C>T (p.Val785=)
|
rs2129715094
|
|
NM_000170.3(GLDC):c.2356A>G (p.Ile786Val)
|
|
|
NM_000170.3(GLDC):c.2361A>C (p.Ser787=)
|
rs2129715080
|
|
NM_000170.3(GLDC):c.2361A>G (p.Ser787=)
|
|
|
NM_000170.3(GLDC):c.2364A>G (p.Leu788=)
|
rs992373079
|
|
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)
|
rs2130031802
|
|
NM_000170.3(GLDC):c.2373T>C (p.Asn791=)
|
rs923929584
|
|
NM_000170.3(GLDC):c.2376G>A (p.Glu792=)
|
rs2129715013
|
|
NM_000170.3(GLDC):c.2377G>A (p.Asp793Asn)
|
rs776288649
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
NM_000170.3(GLDC):c.2381C>G (p.Ala794Gly)
|
rs1817556275
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
NM_000170.3(GLDC):c.2384G>C (p.Cys795Ser)
|
|
|
NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)
|
|
|
NM_000170.3(GLDC):c.2390T>G (p.Val797Gly)
|
|
|
NM_000170.3(GLDC):c.2396C>G (p.Thr799Ser)
|
|
|
NM_000170.3(GLDC):c.2396C>T (p.Thr799Ile)
|
rs772015252
|
|
NM_000170.3(GLDC):c.2397C>A (p.Thr799=)
|
rs778396953
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2407_2408delinsTT (p.Ala803Phe)
|
|
|
NM_000170.3(GLDC):c.2409C>A (p.Ala803=)
|
rs1554643608
|
|
NM_000170.3(GLDC):c.2409C>T (p.Ala803=)
|
rs1554643608
|
|
NM_000170.3(GLDC):c.2410C>T (p.Pro804Ser)
|
rs2129714808
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.2424T>C (p.Ser808=)
|
|
|
NM_000170.3(GLDC):c.2427C>T (p.Ser809=)
|
rs2129714696
|
|
NM_000170.3(GLDC):c.2430C>T (p.Ile810=)
|
rs2129714681
|
|
NM_000170.3(GLDC):c.2431T>C (p.Leu811=)
|
|
|
NM_000170.3(GLDC):c.2431T>G (p.Leu811Val)
|
rs2129714675
|
|
NM_000170.3(GLDC):c.2436C>G (p.Pro812=)
|
rs2129714654
|
|
NM_000170.3(GLDC):c.2436C>T (p.Pro812=)
|
|
|
NM_000170.3(GLDC):c.243C>T (p.Thr81=)
|
|
|
NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter)
|
rs2129714616
|
|
NM_000170.3(GLDC):c.2447C>T (p.Ala816Val)
|
rs2129714588
|
|
NM_000170.3(GLDC):c.2451T>C (p.Tyr817=)
|
rs766061438
|
|
NM_000170.3(GLDC):c.2454C>T (p.Ile818=)
|
rs1817554747
|
|
NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu)
|
rs1587922096
|
|
NM_000170.3(GLDC):c.2457+11G>C
|
rs2129714505
|
|
NM_000170.3(GLDC):c.2457+12G>A
|
|
|
NM_000170.3(GLDC):c.2457+14G>A
|
|
|
NM_000170.3(GLDC):c.2457+14G>C
|
|
|
NM_000170.3(GLDC):c.2457+14G>T
|
|
|
NM_000170.3(GLDC):c.2457+15T>G
|
|
|
NM_000170.3(GLDC):c.2457+16A>G
|
|
|
NM_000170.3(GLDC):c.2457+20G>T
|
|
|
NM_000170.3(GLDC):c.2457+8C>G
|
rs147308839
|
|
NM_000170.3(GLDC):c.2458-11C>G
|
|
|
NM_000170.3(GLDC):c.2458-12C>G
|
|
|
NM_000170.3(GLDC):c.2458-15T>G
|
|
|
NM_000170.3(GLDC):c.2458-18T>G
|
|
|
NM_000170.3(GLDC):c.2458-20T>C
|
|
|
NM_000170.3(GLDC):c.2458-26_2458-10dup
|
rs2129705813
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.2458-4G>A
|
rs2129705803
|
|
NM_000170.3(GLDC):c.2458-4G>T
|
rs2129705803
|
|
NM_000170.3(GLDC):c.2458-7G>A
|
rs2129705811
|
|
NM_000170.3(GLDC):c.2458-7G>C
|
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2461A>T (p.Met821Leu)
|
|
|
NM_000170.3(GLDC):c.2466A>G (p.Gly822=)
|
|
|
NM_000170.3(GLDC):c.2468G>A (p.Gly823Asp)
|
|
|
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter)
|
rs1447727878
|
|
NM_000170.3(GLDC):c.2475T>A (p.Gly825=)
|
|
|
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg)
|
rs946962875
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.2485G>A (p.Ala829Thr)
|
|
|
NM_000170.3(GLDC):c.2490G>A (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.2490G>C (p.Thr830=)
|
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.2496T>G (p.Thr832=)
|
|
|
NM_000170.3(GLDC):c.2499G>T (p.Ala833=)
|
|
|
NM_000170.3(GLDC):c.249G>C (p.Gly83=)
|
rs12341698
|
|
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)
|
rs1163356968
|
|
NM_000170.3(GLDC):c.2501T>C (p.Ile834Thr)
|
|
|
NM_000170.3(GLDC):c.2502A>G (p.Ile834Met)
|
|
|
NM_000170.3(GLDC):c.2503T>C (p.Leu835=)
|
|
|
NM_000170.3(GLDC):c.2508T>C (p.Asn836=)
|
rs2129705484
|
|
NM_000170.3(GLDC):c.2509G>T (p.Ala837Ser)
|
|
|
NM_000170.3(GLDC):c.2511C>G (p.Ala837=)
|
rs2129705466
|
|
NM_000170.3(GLDC):c.2512A>C (p.Asn838His)
|
rs1817498068
|
|
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
|
|
|
NM_000170.3(GLDC):c.2517C>T (p.Tyr839=)
|
rs1817497939
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.251del (p.Leu84fs)
|
rs2130031690
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
NM_000170.3(GLDC):c.2523C>A (p.Ala841=)
|
rs762805307
|
|
NM_000170.3(GLDC):c.2523C>G (p.Ala841=)
|
rs762805307
|
|
NM_000170.3(GLDC):c.2526G>A (p.Lys842=)
|
rs548033815
|
|
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn)
|
rs548033815
|
|
NM_000170.3(GLDC):c.2527C>A (p.Arg843=)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln)
|
rs1422108790
|
|
NM_000170.3(GLDC):c.252G>A (p.Leu84=)
|
rs1314463455
|
|
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)
|
rs770743220
|
|
NM_000170.3(GLDC):c.2535A>G (p.Glu845=)
|
rs2129705267
|
|
NM_000170.3(GLDC):c.2537C>A (p.Thr846Lys)
|
|
|
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile)
|
rs747336541
|
|
NM_000170.3(GLDC):c.2541C>T (p.His847=)
|
|
|
NM_000170.3(GLDC):c.2544C>T (p.Tyr848=)
|
|
|
NM_000170.3(GLDC):c.255+11C>T
|
|
|
NM_000170.3(GLDC):c.255+12C>A
|
|
|
NM_000170.3(GLDC):c.255+12C>T
|
|
|
NM_000170.3(GLDC):c.255+15C>A
|
|
|
NM_000170.3(GLDC):c.255+16C>G
|
|
|
NM_000170.3(GLDC):c.255+16C>T
|
rs1819718277
|
|
NM_000170.3(GLDC):c.255+17G>C
|
|
|
NM_000170.3(GLDC):c.255+18G>A
|
|
|
NM_000170.3(GLDC):c.255+19C>T
|
|
|
NM_000170.3(GLDC):c.255+3A>T
|
rs1417674040
|
|
NM_000170.3(GLDC):c.255+7A>G
|
|
|
NM_000170.3(GLDC):c.255+8C>A
|
|
|
NM_000170.3(GLDC):c.255+9C>A
|
|
|
NM_000170.3(GLDC):c.255+9C>G
|
|
|
NM_000170.3(GLDC):c.255+9C>T
|
rs2130031617
|
|
NM_000170.3(GLDC):c.2550T>A (p.Ile850=)
|
|
|
NM_000170.3(GLDC):c.256-13G>A
|
|
|
NM_000170.3(GLDC):c.256-18C>G
|
|
|
NM_000170.3(GLDC):c.256-19C>T
|
|
|
NM_000170.3(GLDC):c.256-20G>T
|
|
|
NM_000170.3(GLDC):c.256-4T>A
|
|
|
NM_000170.3(GLDC):c.256-9T>C
|
rs747777485
|
|
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
|
rs1271552143
|
|
NM_000170.3(GLDC):c.2562T>A (p.Gly854=)
|
rs756304498
|
|
NM_000170.3(GLDC):c.2563G>A (p.Ala855Thr)
|
|
|
NM_000170.3(GLDC):c.2567G>C (p.Arg856Thr)
|
|
|
NM_000170.3(GLDC):c.2569+12C>G
|
|
|
NM_000170.3(GLDC):c.2569+13T>A
|
|
|
NM_000170.3(GLDC):c.2569+14T>G
|
|
|
NM_000170.3(GLDC):c.2569+16A>T
|
|
|
NM_000170.3(GLDC):c.2569+17A>T
|
|
|
NM_000170.3(GLDC):c.2569+18T>C
|
|
|
NM_000170.3(GLDC):c.2569+20T>C
|
|
|
NM_000170.3(GLDC):c.2569+7A>G
|
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
NM_000170.3(GLDC):c.2569+9C>A
|
|
|
NM_000170.3(GLDC):c.2570-10T>A
|
|
|
NM_000170.3(GLDC):c.2570-14A>G
|
|
|
NM_000170.3(GLDC):c.2570-20G>T
|
|
|
NM_000170.3(GLDC):c.2570-2A>G
|
|
|
NM_000170.3(GLDC):c.2570-4A>G
|
|
|
NM_000170.3(GLDC):c.2570-8C>T
|
|
|
NM_000170.3(GLDC):c.2573A>C (p.Tyr858Ser)
|
|
|
NM_000170.3(GLDC):c.2574T>C (p.Tyr858=)
|
|
|
NM_000170.3(GLDC):c.2575G>T (p.Val859Leu)
|
rs1817224485
|
|
NM_000170.3(GLDC):c.2576T>A (p.Val859Glu)
|
rs2129663404
|
|
NM_000170.3(GLDC):c.2577G>A (p.Val859=)
|
rs935896982
|
|
NM_000170.3(GLDC):c.2577G>C (p.Val859=)
|
rs935896982
|
|
NM_000170.3(GLDC):c.2577G>T (p.Val859=)
|
rs935896982
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
NM_000170.3(GLDC):c.2579G>T (p.Gly860Val)
|
rs2129663355
|
|
NM_000170.3(GLDC):c.2583T>C (p.His861=)
|
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met)
|
rs375375700
|
|
NM_000170.3(GLDC):c.2593T>C (p.Leu865=)
|
rs375375700
|
|
NM_000170.3(GLDC):c.2594del (p.Leu865fs)
|
|
|
NM_000170.3(GLDC):c.2596G>C (p.Asp866His)
|
rs2129663304
|
|
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly)
|
rs1817224032
|
|
NM_000170.3(GLDC):c.2598C>T (p.Asp866=)
|
|
|
NM_000170.3(GLDC):c.2601G>C (p.Thr867=)
|
|
|
NM_000170.3(GLDC):c.2601G>T (p.Thr867=)
|
|
|
NM_000170.3(GLDC):c.2603G>C (p.Arg868Thr)
|
rs1376198157
|
|
NM_000170.3(GLDC):c.2607C>G (p.Pro869=)
|
|
|
NM_000170.3(GLDC):c.260T>C (p.Ile87Thr)
|
rs561846684
|
|
NM_000170.3(GLDC):c.2610C>T (p.Phe870=)
|
|
|
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn)
|
rs778913771
|
|
NM_000170.3(GLDC):c.2625T>G (p.Asn875Lys)
|
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2633C>T (p.Ala878Val)
|
rs2129663100
|
|
NM_000170.3(GLDC):c.2634T>C (p.Ala878=)
|
|
|
NM_000170.3(GLDC):c.2637G>C (p.Val879=)
|
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.263A>G (p.Asp88Gly)
|
|
|
NM_000170.3(GLDC):c.2643G>A (p.Val881=)
|
|
|
NM_000170.3(GLDC):c.2647A>C (p.Lys883Gln)
|
rs2129663030
|
|
NM_000170.3(GLDC):c.2649G>C (p.Lys883Asn)
|
|
|
NM_000170.3(GLDC):c.264T>G (p.Asp88Glu)
|
|
|
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)
|
|
|
NM_000170.3(GLDC):c.2655C>G (p.Leu885=)
|
rs2129662984
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
NM_000170.3(GLDC):c.2665+10T>C
|
rs774684209
|
|
NM_000170.3(GLDC):c.2665+11T>A
|
|
|
NM_000170.3(GLDC):c.2665+15A>C
|
|
|
NM_000170.3(GLDC):c.2665+16C>T
|
|
|
NM_000170.3(GLDC):c.2665+1G>A
|
rs149070244
|
|
NM_000170.3(GLDC):c.2665+1G>T
|
|
|
NM_000170.3(GLDC):c.2665+20C>A
|
|
|
NM_000170.3(GLDC):c.2665+20C>T
|
|
|
NM_000170.3(GLDC):c.2665+4A>C
|
|
|
NM_000170.3(GLDC):c.2665+8G>A
|
rs761468673
|
|
NM_000170.3(GLDC):c.2665+9del
|
rs1432943603
|
|
NM_000170.3(GLDC):c.2666-10C>G
|
|
|
NM_000170.3(GLDC):c.2666-10C>T
|
|
|
NM_000170.3(GLDC):c.2666-12C>G
|
|
|
NM_000170.3(GLDC):c.2666-1G>A
|
rs1429861000
|
|
NM_000170.3(GLDC):c.2666-7T>G
|
|
|
NM_000170.3(GLDC):c.2666-8C>G
|
|
|
NM_000170.3(GLDC):c.2666-9C>T
|
|
|
NM_000170.3(GLDC):c.2674G>T (p.Ala892Ser)
|
|
|
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser)
|
rs2129650066
|
|
NM_000170.3(GLDC):c.267A>G (p.Glu89=)
|
|
|
NM_000170.3(GLDC):c.2682C>G (p.Thr894=)
|
rs2129650044
|
|
NM_000170.3(GLDC):c.2688C>A (p.Ser896=)
|
rs2129650009
|
|
NM_000170.3(GLDC):c.2688C>T (p.Ser896=)
|
|
|
NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter)
|
rs2129649998
|
|
NM_000170.3(GLDC):c.2694T>C (p.Pro898=)
|
rs147762931
|
|
NM_000170.3(GLDC):c.2695G>A (p.Val899Met)
|
rs2129649975
|
|
NM_000170.3(GLDC):c.26G>A (p.Gly9Glu)
|
|
|
NM_000170.3(GLDC):c.2703G>A (p.Gly901=)
|
|
|
NM_000170.3(GLDC):c.2703G>T (p.Gly901=)
|
|
|
NM_000170.3(GLDC):c.2706C>G (p.Thr902=)
|
rs752943013
|
|
NM_000170.3(GLDC):c.2709C>T (p.Leu903=)
|
|
|
NM_000170.3(GLDC):c.2715G>A (p.Val905=)
|
|
|
NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu)
|
rs2129649871
|
|
NM_000170.3(GLDC):c.2723C>T (p.Thr908Ile)
|
|
|
NM_000170.3(GLDC):c.2724T>C (p.Thr908=)
|
|
|
NM_000170.3(GLDC):c.2727G>A (p.Glu909=)
|
rs2129649835
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2733G>A (p.Glu911=)
|
rs1397333445
|
|
NM_000170.3(GLDC):c.2736C>G (p.Asp912Glu)
|
|
|
NM_000170.3(GLDC):c.2742A>G (p.Ala914=)
|
rs374022098
|
|
NM_000170.3(GLDC):c.2746C>G (p.Leu916Val)
|
|
|
NM_000170.3(GLDC):c.2746C>T (p.Leu916=)
|
rs773430894
|
|
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)
|
rs1817122724
|
|
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val)
|
rs1817122724
|
|
NM_000170.3(GLDC):c.2760T>C (p.Cys920=)
|
|
|
NM_000170.3(GLDC):c.2763T>C (p.Asp921=)
|
rs2129649657
|
|
NM_000170.3(GLDC):c.2768T>C (p.Met923Thr)
|
rs2129649642
|
|
NM_000170.3(GLDC):c.2770_2774del (p.Ile924fs)
|
|
|
NM_000170.3(GLDC):c.2776A>G (p.Ile926Val)
|
|
|
NM_000170.3(GLDC):c.2778del (p.Arg927fs)
|
|
|
NM_000170.3(GLDC):c.2779C>T (p.Arg927Trp)
|
|
|
NM_000170.3(GLDC):c.2780G>A (p.Arg927Gln)
|
rs934940369
|
|
NM_000170.3(GLDC):c.2781G>T (p.Arg927=)
|
|
|
NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)
|
|
|
NM_000170.3(GLDC):c.2783A>G (p.Gln928Arg)
|
|
|
NM_000170.3(GLDC):c.2785G>A (p.Glu929Lys)
|
|
|
NM_000170.3(GLDC):c.2790T>C (p.Ile930=)
|
|
|
NM_000170.3(GLDC):c.2791del (p.Ala931fs)
|
|
|
NM_000170.3(GLDC):c.2798T>A (p.Ile933Asn)
|
rs758029533
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
NM_000170.3(GLDC):c.27G>A (p.Gly9=)
|
|
|
NM_000170.3(GLDC):c.2802G>T (p.Glu934Asp)
|
|
|
NM_000170.3(GLDC):c.2805G>A (p.Glu935=)
|
|
|
NM_000170.3(GLDC):c.2806G>A (p.Gly936Ser)
|
|
|
NM_000170.3(GLDC):c.2808C>T (p.Gly936=)
|
|
|
NM_000170.3(GLDC):c.2811C>T (p.Arg937=)
|
rs2129649432
|
|
NM_000170.3(GLDC):c.2815G>A (p.Asp939Asn)
|
|
|
NM_000170.3(GLDC):c.2819C>A (p.Pro940His)
|
rs2129649391
|
|
NM_000170.3(GLDC):c.2821A>C (p.Arg941=)
|
rs1587909520
|
|
NM_000170.3(GLDC):c.2824del (p.Val942fs)
|
rs2129649366
|
|
NM_000170.3(GLDC):c.282G>C (p.Thr94=)
|
rs769003941
|
|
NM_000170.3(GLDC):c.2835G>T (p.Leu945=)
|
|
|
NM_000170.3(GLDC):c.2838+10C>T
|
rs1587909491
|
|
NM_000170.3(GLDC):c.2838+11C>A
|
|
|
NM_000170.3(GLDC):c.2838+12C>G
|
|
|
NM_000170.3(GLDC):c.2838+14G>C
|
|
|
NM_000170.3(GLDC):c.2838+14G>T
|
|
|
NM_000170.3(GLDC):c.2838+16A>C
|
|
|
NM_000170.3(GLDC):c.2838+19A>G
|
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2838+4C>T
|
rs200680938
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.2838+5G>T
|
|
|
NM_000170.3(GLDC):c.2838+8G>C
|
|
|
NM_000170.3(GLDC):c.2838+8G>T
|
rs1353016990
|
|
NM_000170.3(GLDC):c.2839-10T>C
|
rs750768090
|
|
NM_000170.3(GLDC):c.2839-12T>C
|
|
|
NM_000170.3(GLDC):c.2839-13G>T
|
|
|
NM_000170.3(GLDC):c.2839-13_2839-12del
|
|
|
NM_000170.3(GLDC):c.2839-19G>C
|
|
|
NM_000170.3(GLDC):c.2839-3C>T
|
rs1252272018
|
|
NM_000170.3(GLDC):c.2839-4T>C
|
rs2129645533
|
|
NM_000170.3(GLDC):c.2839-4T>G
|
|
|
NM_000170.3(GLDC):c.2839-5C>T
|
|
|
NM_000170.3(GLDC):c.2839-6T>C
|
|
|
NM_000170.3(GLDC):c.2839-7G>C
|
|
|
NM_000170.3(GLDC):c.2839-9C>G
|
|
|
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)
|
rs1214310966
|
|
NM_000170.3(GLDC):c.2841dup (p.Ser948fs)
|
|
|
NM_000170.3(GLDC):c.2843C>G (p.Ser948Cys)
|
rs1817084329
|
|
NM_000170.3(GLDC):c.2844T>C (p.Ser948=)
|
rs1817084254
|
|
NM_000170.3(GLDC):c.2844T>G (p.Ser948=)
|
rs1817084254
|
|
NM_000170.3(GLDC):c.2853C>A (p.Ser951=)
|
rs1365662392
|
|
NM_000170.3(GLDC):c.2853C>T (p.Ser951=)
|
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
NM_000170.3(GLDC):c.2868A>C (p.Thr956=)
|
|
|
NM_000170.3(GLDC):c.2868A>G (p.Thr956=)
|
|
|
NM_000170.3(GLDC):c.2868A>T (p.Thr956=)
|
|
|
NM_000170.3(GLDC):c.286C>T (p.Pro96Ser)
|
|
|
NM_000170.3(GLDC):c.2870_2909del (p.Ser957fs)
|
rs2129645235
|
|
NM_000170.3(GLDC):c.2874C>A (p.Ser958=)
|
|
|
NM_000170.3(GLDC):c.2874C>G (p.Ser958=)
|
|
|
NM_000170.3(GLDC):c.2876A>C (p.His959Pro)
|
|
|
NM_000170.3(GLDC):c.2876A>G (p.His959Arg)
|
rs572523552
|
|
NM_000170.3(GLDC):c.2876_2877del (p.His959fs)
|
rs2129645358
|
|
NM_000170.3(GLDC):c.2877C>T (p.His959=)
|
|
|
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp)
|
rs1172061571
|
|
NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)
|
|
|
NM_000170.3(GLDC):c.2886G>A (p.Arg962=)
|
|
|
NM_000170.3(GLDC):c.2890T>C (p.Tyr964His)
|
|
|
NM_000170.3(GLDC):c.289G>A (p.Ala97Thr)
|
rs1587989978
|
|
NM_000170.3(GLDC):c.28C>T (p.Leu10=)
|
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.2900A>G (p.Glu967Gly)
|
|
|
NM_000170.3(GLDC):c.2904G>A (p.Val968=)
|
|
|
NM_000170.3(GLDC):c.2907A>C (p.Ala969=)
|
|
|
NM_000170.3(GLDC):c.2907A>G (p.Ala969=)
|
|
|
NM_000170.3(GLDC):c.2916A>T (p.Pro972=)
|
|
|
NM_000170.3(GLDC):c.2919+12G>T
|
|
|
NM_000170.3(GLDC):c.2919+16C>G
|
|
|
NM_000170.3(GLDC):c.2919+16C>T
|
rs775233747
|
|
NM_000170.3(GLDC):c.2919+18G>A
|
|
|
NM_000170.3(GLDC):c.2919+18G>C
|
|
|
NM_000170.3(GLDC):c.2919+1G>C
|
rs386833575
|
|
NM_000170.3(GLDC):c.2919+2dup
|
rs2129645182
|
|
NM_000170.3(GLDC):c.2919+5G>T
|
rs768091555
|
|
NM_000170.3(GLDC):c.2919+7del
|
|
|
NM_000170.3(GLDC):c.2919+9T>C
|
|
|
NM_000170.3(GLDC):c.2919C>G (p.Leu973=)
|
rs113736090
|
|
NM_000170.3(GLDC):c.291del (p.Asn98fs)
|
rs2130029354
|
|
NM_000170.3(GLDC):c.2920-14T>G
|
|
|
NM_000170.3(GLDC):c.2920-16C>A
|
|
|
NM_000170.3(GLDC):c.2920-18A>G
|
|
|
NM_000170.3(GLDC):c.2920-1G>C
|
rs1474611877
|
|
NM_000170.3(GLDC):c.2920-4G>A
|
|
|
NM_000170.3(GLDC):c.2920-8C>G
|
rs138786708
|
|
NM_000170.3(GLDC):c.2920C>T (p.Pro974Ser)
|
rs949553434
|
|
NM_000170.3(GLDC):c.2922C>G (p.Pro974=)
|
|
|
NM_000170.3(GLDC):c.2922C>T (p.Pro974=)
|
rs2129641379
|
|
NM_000170.3(GLDC):c.2928G>A (p.Val976=)
|
|
|
NM_000170.3(GLDC):c.2930A>C (p.Lys977Thr)
|
rs2129641363
|
|
NM_000170.3(GLDC):c.2937G>C (p.Glu979Asp)
|
rs1271866161
|
|
NM_000170.3(GLDC):c.2940C>T (p.Asn980=)
|
|
|
NM_000170.3(GLDC):c.2943A>G (p.Lys981=)
|
|
|
NM_000170.3(GLDC):c.2946C>T (p.Phe982=)
|
rs1270215089
|
|
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys)
|
rs1819702080
|
|
NM_000170.3(GLDC):c.294C>T (p.Asn98=)
|
rs1819702080
|
|
NM_000170.3(GLDC):c.2954C>T (p.Thr985Met)
|
|
|
NM_000170.3(GLDC):c.2956A>T (p.Ile986Phe)
|
|
|
NM_000170.3(GLDC):c.2957T>C (p.Ile986Thr)
|
rs1817036068
|
|
NM_000170.3(GLDC):c.2962C>A (p.Arg988=)
|
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
NM_000170.3(GLDC):c.2964G>C (p.Arg988=)
|
rs146045718
|
|
NM_000170.3(GLDC):c.2965A>G (p.Ile989Val)
|
|
|
NM_000170.3(GLDC):c.2970T>C (p.Asp990=)
|
rs764054067
|
|
NM_000170.3(GLDC):c.2970T>G (p.Asp990Glu)
|
|
|
NM_000170.3(GLDC):c.2973C>T (p.Asp991=)
|
|
|
NM_000170.3(GLDC):c.2978A>G (p.Tyr993Cys)
|
|
|
NM_000170.3(GLDC):c.2978_2979del (p.Tyr993fs)
|
|
|
NM_000170.3(GLDC):c.2978dup (p.Tyr993Ter)
|
|
|
NM_000170.3(GLDC):c.2982A>C (p.Gly994=)
|
|
|
NM_000170.3(GLDC):c.2982A>G (p.Gly994=)
|
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.2983G>T (p.Asp995Tyr)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.2985T>C (p.Asp995=)
|
|
|
NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter)
|
rs1296191006
|
|
NM_000170.3(GLDC):c.2988G>A (p.Gln996=)
|
rs138640017
|
|
NM_000170.3(GLDC):c.2990A>G (p.His997Arg)
|
rs2129641211
|
|
NM_000170.3(GLDC):c.2991C>A (p.His997Gln)
|
rs757398632
|
|
NM_000170.3(GLDC):c.2991C>T (p.His997=)
|
rs757398632
|
|
NM_000170.3(GLDC):c.2992C>T (p.Leu998=)
|
|
|
NM_000170.3(GLDC):c.2993T>G (p.Leu998Arg)
|
rs1817035007
|
|
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile)
|
rs2129641188
|
|
NM_000170.3(GLDC):c.2997T>C (p.Val999=)
|
|
|
NM_000170.3(GLDC):c.2997T>G (p.Val999=)
|
|
|
NM_000170.3(GLDC):c.2T>A (p.Met1Lys)
|
rs121964978
|
|
NM_000170.3(GLDC):c.2T>C (p.Met1Thr)
|
rs121964978
|
|
NM_000170.3(GLDC):c.3000T>C (p.Cys1000=)
|
|
|
NM_000170.3(GLDC):c.3007C>T (p.Pro1003Ser)
|
|
|
NM_000170.3(GLDC):c.3009A>T (p.Pro1003=)
|
|
|
NM_000170.3(GLDC):c.3018A>G (p.Glu1006=)
|
rs1179382589
|
|
NM_000170.3(GLDC):c.3019G>A (p.Val1007Ile)
|
rs112299567
|
|
NM_000170.3(GLDC):c.3019G>T (p.Val1007Phe)
|
rs112299567
|
|
NM_000170.3(GLDC):c.3039T>C (p.Ser1013=)
|
rs2129641096
|
|
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter)
|
rs1444245039
|
|
NM_000170.3(GLDC):c.3045A>T (p.Gln1015His)
|
rs2129641086
|
|
NM_000170.3(GLDC):c.3050G>A (p.Arg1017Lys)
|
rs1294726700
|
|
NM_000170.3(GLDC):c.3050G>T (p.Arg1017Met)
|
rs1294726700
|
|
NM_000170.3(GLDC):c.3053C>T (p.Ala1018Val)
|
|
|
NM_000170.3(GLDC):c.3057T>A (p.Ser1019=)
|
rs2129641056
|
|
NM_000170.3(GLDC):c.3061del (p.Ter1021SerextTer?)
|
|
|
NM_000170.3(GLDC):c.307A>C (p.Arg103=)
|
rs781076791
|
|
NM_000170.3(GLDC):c.307dup (p.Arg103fs)
|
rs2130029302
|
|
NM_000170.3(GLDC):c.309A>G (p.Arg103=)
|
|
|
NM_000170.3(GLDC):c.312C>G (p.Pro104=)
|
rs764472892
|
|
NM_000170.3(GLDC):c.312C>T (p.Pro104=)
|
|
|
NM_000170.3(GLDC):c.313T>C (p.Leu105=)
|
|
|
NM_000170.3(GLDC):c.315G>T (p.Leu105Phe)
|
|
|
NM_000170.3(GLDC):c.316A>G (p.Lys106Glu)
|
|
|
NM_000170.3(GLDC):c.319del (p.Met107fs)
|
|
|
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter)
|
rs2130029228
|
|
NM_000170.3(GLDC):c.331_332insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGGAAGACCCTG (p.Val111delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_000170.3(GLDC):c.334+10C>G
|
|
|
NM_000170.3(GLDC):c.334+11G>A
|
|
|
NM_000170.3(GLDC):c.334+12G>A
|
|
|
NM_000170.3(GLDC):c.334+13G>A
|
rs749620185
|
|
NM_000170.3(GLDC):c.334+16_334+22del
|
rs1819700494
|
|
NM_000170.3(GLDC):c.334+17G>T
|
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+20C>G
|
rs368832194
|
|
NM_000170.3(GLDC):c.334+20C>T
|
rs368832194
|
|
NM_000170.3(GLDC):c.334+8G>A
|
|
|
NM_000170.3(GLDC):c.334+8G>C
|
rs773212382
|
|
NM_000170.3(GLDC):c.334+9C>G
|
rs771413015
|
|
NM_000170.3(GLDC):c.335-15T>G
|
rs1819064204
|
|
NM_000170.3(GLDC):c.335-17C>G
|
|
|
NM_000170.3(GLDC):c.335-17_335-16del
|
|
|
NM_000170.3(GLDC):c.335-19C>T
|
rs773889966
|
|
NM_000170.3(GLDC):c.335-1G>C
|
rs1554649675
|
|
NM_000170.3(GLDC):c.335-20T>C
|
|
|
NM_000170.3(GLDC):c.335-6A>G
|
|
|
NM_000170.3(GLDC):c.335-8A>C
|
rs770049528
|
|
NM_000170.3(GLDC):c.335-8A>G
|
|
|
NM_000170.3(GLDC):c.335G>A (p.Cys112Tyr)
|
|
|
NM_000170.3(GLDC):c.33C>A (p.Arg11=)
|
|
|
NM_000170.3(GLDC):c.34C>T (p.Leu12=)
|
rs1819728398
|
|
NM_000170.3(GLDC):c.351T>C (p.Leu117=)
|
rs2129949270
|
|
NM_000170.3(GLDC):c.356_362del (p.Thr119fs)
|
|
|
NM_000170.3(GLDC):c.357_358insTAAACT (p.Leu120Ter)
|
rs2129949245
|
|
NM_000170.3(GLDC):c.358C>G (p.Leu120Val)
|
rs758562313
|
|
NM_000170.3(GLDC):c.35T>C (p.Leu12Pro)
|
rs1819728347
|
|
NM_000170.3(GLDC):c.360G>C (p.Leu120=)
|
|
|
NM_000170.3(GLDC):c.360G>T (p.Leu120=)
|
|
|
NM_000170.3(GLDC):c.362A>G (p.His121Arg)
|
|
|
NM_000170.3(GLDC):c.365C>T (p.Ala122Val)
|
rs748248885
|
|
NM_000170.3(GLDC):c.367A>G (p.Ile123Val)
|
|
|
NM_000170.3(GLDC):c.369T>C (p.Ile123=)
|
rs2129949164
|
|
NM_000170.3(GLDC):c.36G>C (p.Leu12=)
|
rs1476935488
|
|
NM_000170.3(GLDC):c.371C>T (p.Ser124Leu)
|
rs1819062238
|
|
NM_000170.3(GLDC):c.372A>G (p.Ser124=)
|
|
|
NM_000170.3(GLDC):c.381C>G (p.Asn127Lys)
|
rs767326222
|
|
NM_000170.3(GLDC):c.381C>T (p.Asn127=)
|
rs767326222
|
|
NM_000170.3(GLDC):c.383A>G (p.Gln128Arg)
|
rs1819061825
|
|
NM_000170.3(GLDC):c.384G>C (p.Gln128His)
|
rs2129949115
|
|
NM_000170.3(GLDC):c.384G>T (p.Gln128His)
|
|
|
NM_000170.3(GLDC):c.391A>C (p.Arg131=)
|
|
|
NM_000170.3(GLDC):c.393A>G (p.Arg131=)
|
|
|
NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)
|
|
|
NM_000170.3(GLDC):c.396G>T (p.Ser132=)
|
rs542613459
|
|
NM_000170.3(GLDC):c.398A>C (p.Tyr133Ser)
|
|
|
NM_000170.3(GLDC):c.399T>C (p.Tyr133=)
|
|
|
NM_000170.3(GLDC):c.39C>T (p.Gly13=)
|
rs1819728146
|
|
NM_000170.3(GLDC):c.405C>T (p.Gly135=)
|
|
|
NM_000170.3(GLDC):c.411_412insAATA (p.Tyr138fs)
|
rs1563864784
|
|
NM_000170.3(GLDC):c.420C>T (p.Asn140=)
|
|
|
NM_000170.3(GLDC):c.421T>C (p.Cys141Arg)
|
rs759792163
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
NM_000170.3(GLDC):c.429G>A (p.Val143=)
|
|
|
NM_000170.3(GLDC):c.42C>T (p.Arg14=)
|
rs2130032913
|
|
NM_000170.3(GLDC):c.431C>A (p.Pro144Gln)
|
rs747464155
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.438G>T (p.Thr146=)
|
rs13289273
|
|
NM_000170.3(GLDC):c.443T>C (p.Leu148Ser)
|
rs1819059273
|
|
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser)
|
rs386833578
|
|
NM_000170.3(GLDC):c.44G>A (p.Gly15Glu)
|
rs1405876098
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)
|
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
NM_000170.3(GLDC):c.462C>T (p.Asn154=)
|
|
|
NM_000170.3(GLDC):c.465A>G (p.Ser155=)
|
|
|
NM_000170.3(GLDC):c.466G>C (p.Gly156Arg)
|
rs1819058509
|
|
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu)
|
rs2129948795
|
|
NM_000170.3(GLDC):c.468A>G (p.Gly156=)
|
rs2129948789
|
|
NM_000170.3(GLDC):c.470+10T>C
|
|
|
NM_000170.3(GLDC):c.470+16G>C
|
|
|
NM_000170.3(GLDC):c.470+17T>C
|
|
|
NM_000170.3(GLDC):c.470+1G>C
|
|
|
NM_000170.3(GLDC):c.470+4A>G
|
rs2129948774
|
|
NM_000170.3(GLDC):c.470+9T>C
|
rs2129948755
|
|
NM_000170.3(GLDC):c.471-12T>C
|
|
|
NM_000170.3(GLDC):c.471-13G>T
|
|
|
NM_000170.3(GLDC):c.471-14T>G
|
|
|
NM_000170.3(GLDC):c.471-15T>A
|
rs1310810720
|
|
NM_000170.3(GLDC):c.471-15T>C
|
|
|
NM_000170.3(GLDC):c.471-17T>A
|
|
|
NM_000170.3(GLDC):c.471-18C>G
|
|
|
NM_000170.3(GLDC):c.471-18C>T
|
|
|
NM_000170.3(GLDC):c.471-1G>C
|
rs1818826951
|
|
NM_000170.3(GLDC):c.471-1G>T
|
|
|
NM_000170.3(GLDC):c.471-20A>T
|
|
|
NM_000170.3(GLDC):c.471-5dup
|
rs2129916881
|
|
NM_000170.3(GLDC):c.471-7C>G
|
rs1362669104
|
|
NM_000170.3(GLDC):c.472A>G (p.Ile158Val)
|
|
|
NM_000170.3(GLDC):c.474C>T (p.Ile158=)
|
rs2129916861
|
|
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter)
|
rs1264725941
|
|
NM_000170.3(GLDC):c.480G>A (p.Gln160=)
|
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000170.3(GLDC):c.490T>C (p.Tyr164His)
|
|
|
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)
|
rs746124283
|
|
NM_000170.3(GLDC):c.493C>G (p.Gln165Glu)
|
rs2129916804
|
|
NM_000170.3(GLDC):c.498T>G (p.Pro166=)
|
|
|
NM_000170.3(GLDC):c.49G>C (p.Gly17Arg)
|
|
|
NM_000170.3(GLDC):c.4C>A (p.Gln2Lys)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.504G>A (p.Val168=)
|
|
|
NM_000170.3(GLDC):c.504G>T (p.Val168=)
|
|
|
NM_000170.3(GLDC):c.509_510del (p.Gln170fs)
|
rs2129916678
|
|
NM_000170.3(GLDC):c.510G>A (p.Gln170=)
|
|
|
NM_000170.3(GLDC):c.51G>C (p.Gly17=)
|
rs947785805
|
|
NM_000170.3(GLDC):c.527T>C (p.Leu176Ser)
|
|
|
NM_000170.3(GLDC):c.527del (p.Leu176fs)
|
rs1563859767
|
|
NM_000170.3(GLDC):c.531C>G (p.Leu177=)
|
rs763706954
|
|
NM_000170.3(GLDC):c.531C>T (p.Leu177=)
|
|
|
NM_000170.3(GLDC):c.533A>G (p.Asn178Ser)
|
|
|
NM_000170.3(GLDC):c.534C>T (p.Asn178=)
|
rs375402770
|
|
NM_000170.3(GLDC):c.543C>T (p.Thr181=)
|
|
|
NM_000170.3(GLDC):c.547del (p.Val183fs)
|
|
|
NM_000170.3(GLDC):c.550T>A (p.Cys184Ser)
|
|
|
NM_000170.3(GLDC):c.551G>A (p.Cys184Tyr)
|
rs1263123723
|
|
NM_000170.3(GLDC):c.555C>T (p.Asp185=)
|
rs2129916426
|
|
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg)
|
rs386833582
|
|
NM_000170.3(GLDC):c.564C>A (p.Gly188=)
|
|
|
NM_000170.3(GLDC):c.567G>A (p.Leu189=)
|
|
|
NM_000170.3(GLDC):c.570C>T (p.Asp190=)
|
rs574428768
|
|
NM_000170.3(GLDC):c.573_574insA (p.Ala192fs)
|
|
|
NM_000170.3(GLDC):c.575C>G (p.Ala192Gly)
|
rs2129916367
|
|
NM_000170.3(GLDC):c.579T>C (p.Asn193=)
|
|
|
NM_000170.3(GLDC):c.580G>T (p.Ala194Ser)
|
|
|
NM_000170.3(GLDC):c.582A>G (p.Ala194=)
|
rs1587964992
|
|
NM_000170.3(GLDC):c.582_589del (p.Ser195fs)
|
|
|
NM_000170.3(GLDC):c.585_589del (p.Leu196fs)
|
|
|
NM_000170.3(GLDC):c.586del (p.Leu196fs)
|
rs2129916327
|
|
NM_000170.3(GLDC):c.589C>T (p.Leu197=)
|
rs1461615694
|
|
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
|
|
|
NM_000170.3(GLDC):c.600G>T (p.Gly200=)
|
|
|
NM_000170.3(GLDC):c.600del (p.Thr201fs)
|
rs2129916293
|
|
NM_000170.3(GLDC):c.602C>G (p.Thr201Ser)
|
|
|
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly)
|
rs386833583
|
|
NM_000170.3(GLDC):c.609C>A (p.Ala203=)
|
|
|
NM_000170.3(GLDC):c.609C>G (p.Ala203=)
|
rs201699152
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
NM_000170.3(GLDC):c.610G>A (p.Ala204Thr)
|
|
|
NM_000170.3(GLDC):c.613del (p.Glu205fs)
|
rs2129916235
|
|
NM_000170.3(GLDC):c.618A>G (p.Ala206=)
|
rs764552944
|
|
NM_000170.3(GLDC):c.622C>A (p.Gln208Lys)
|
|
|
NM_000170.3(GLDC):c.624G>T (p.Gln208His)
|
rs1385183318
|
|
NM_000170.3(GLDC):c.625C>T (p.Leu209=)
|
|
|
NM_000170.3(GLDC):c.627G>A (p.Leu209=)
|
|
|
NM_000170.3(GLDC):c.629G>A (p.Cys210Tyr)
|
|
|
NM_000170.3(GLDC):c.634A>C (p.Arg212=)
|
rs1212968746
|
|
NM_000170.3(GLDC):c.635+10C>T
|
|
|
NM_000170.3(GLDC):c.635+14C>T
|
|
|
NM_000170.3(GLDC):c.635+15A>G
|
|
|
NM_000170.3(GLDC):c.635+16A>T
|
rs182471927
|
|
NM_000170.3(GLDC):c.635+1G>A
|
rs1368757896
|
|
NM_000170.3(GLDC):c.635+1G>T
|
|
|
NM_000170.3(GLDC):c.635+3G>C
|
|
|
NM_000170.3(GLDC):c.635+7G>A
|
|
|
NM_000170.3(GLDC):c.635+8G>A
|
rs760774268
|
|
NM_000170.3(GLDC):c.635+9C>A
|
rs775573191
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.636-12T>C
|
|
|
NM_000170.3(GLDC):c.636-12del
|
|
|
NM_000170.3(GLDC):c.636-15T>C
|
|
|
NM_000170.3(GLDC):c.636-17C>G
|
|
|
NM_000170.3(GLDC):c.636-18G>A
|
|
|
NM_000170.3(GLDC):c.636-1G>T
|
|
|
NM_000170.3(GLDC):c.636-20G>T
|
|
|
NM_000170.3(GLDC):c.636-2A>G
|
|
|
NM_000170.3(GLDC):c.636-5A>G
|
rs1818740864
|
|
NM_000170.3(GLDC):c.636-5A>T
|
|
|
NM_000170.3(GLDC):c.636-6C>T
|
rs2129903875
|
|
NM_000170.3(GLDC):c.636-7T>C
|
|
|
NM_000170.3(GLDC):c.636-9T>C
|
rs1254322993
|
|
NM_000170.3(GLDC):c.636A>G (p.Arg212=)
|
|
|
NM_000170.3(GLDC):c.639C>T (p.His213=)
|
|
|
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del)
|
rs1222749984
|
|
NM_000170.3(GLDC):c.63C>T (p.Arg21=)
|
|
|
NM_000170.3(GLDC):c.642C>G (p.Asn214Lys)
|
rs775546889
|
|
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu)
|
rs907616957
|
|
NM_000170.3(GLDC):c.645G>A (p.Lys215=)
|
rs1818740340
|
|
NM_000170.3(GLDC):c.646A>C (p.Arg216=)
|
|
|
NM_000170.3(GLDC):c.646A>T (p.Arg216Trp)
|
|
|
NM_000170.3(GLDC):c.64C>T (p.Leu22=)
|
|
|
NM_000170.3(GLDC):c.663T>G (p.Val221=)
|
rs2129903677
|
|
NM_000170.3(GLDC):c.669C>A (p.Pro223=)
|
|
|
NM_000170.3(GLDC):c.66G>C (p.Leu22=)
|
rs1337924090
|
|
NM_000170.3(GLDC):c.66G>T (p.Leu22=)
|
rs1337924090
|
|
NM_000170.3(GLDC):c.675C>T (p.Cys225=)
|
|
|
NM_000170.3(GLDC):c.678C>A (p.His226Gln)
|
|
|
NM_000170.3(GLDC):c.681A>C (p.Pro227=)
|
|
|
NM_000170.3(GLDC):c.681A>G (p.Pro227=)
|
rs1818739152
|
|
NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)
|
|
|
NM_000170.3(GLDC):c.684G>A (p.Gln228=)
|
rs2129903563
|
|
NM_000170.3(GLDC):c.689T>C (p.Ile230Thr)
|
|
|
NM_000170.3(GLDC):c.704C>G (p.Thr235Ser)
|
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro)
|
rs772832052
|
|
NM_000170.3(GLDC):c.708_709del (p.Ala237fs)
|
|
|
NM_000170.3(GLDC):c.70G>T (p.Gly24Trp)
|
|
|
NM_000170.3(GLDC):c.712A>C (p.Lys238Gln)
|
rs2129903388
|
|
NM_000170.3(GLDC):c.713+12G>C
|
|
|
NM_000170.3(GLDC):c.713+13A>T
|
|
|
NM_000170.3(GLDC):c.713+14T>G
|
rs560495542
|
|
NM_000170.3(GLDC):c.713+17G>C
|
|
|
NM_000170.3(GLDC):c.713+18T>A
|
|
|
NM_000170.3(GLDC):c.713+18del
|
|
|
NM_000170.3(GLDC):c.713+19G>A
|
|
|
NM_000170.3(GLDC):c.713+1G>A
|
rs903653902
|
|
NM_000170.3(GLDC):c.713+7_713+10del
|
rs2129903352
|
|
NM_000170.3(GLDC):c.713+8A>G
|
|
|
NM_000170.3(GLDC):c.713+8A>T
|
rs367971072
|
|
NM_000170.3(GLDC):c.713+9T>C
|
|
|
NM_000170.3(GLDC):c.714-10G>A
|
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|
NM_000170.3(GLDC):c.714-11T>C
|
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|
NM_000170.3(GLDC):c.714-13T>A
|
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|
NM_000170.3(GLDC):c.714-15_714-13del
|
rs780790361
|
|
NM_000170.3(GLDC):c.714-17G>T
|
|
|
NM_000170.3(GLDC):c.714-18T>C
|
|
|
NM_000170.3(GLDC):c.714-19T>C
|
|
|
NM_000170.3(GLDC):c.714-19T>G
|
rs1387477311
|
|
NM_000170.3(GLDC):c.714-1G>A
|
rs2129898670
|
|
NM_000170.3(GLDC):c.714-4C>A
|
rs1206369229
|
|
NM_000170.3(GLDC):c.714-4C>G
|
rs1206369229
|
|
NM_000170.3(GLDC):c.714-5T>A
|
|
|
NM_000170.3(GLDC):c.714-8C>G
|
rs746399537
|
|
NM_000170.3(GLDC):c.714-9T>C
|
rs2129898712
|
|
NM_000170.3(GLDC):c.719C>A (p.Thr240Asn)
|
|
|
NM_000170.3(GLDC):c.719C>T (p.Thr240Ile)
|
rs1563857096
|
|
NM_000170.3(GLDC):c.71G>A (p.Gly24Glu)
|
rs967983950
|
|
NM_000170.3(GLDC):c.720T>C (p.Thr240=)
|
rs2129898600
|
|
NM_000170.3(GLDC):c.721G>A (p.Gly241Arg)
|
rs2129898592
|
|
NM_000170.3(GLDC):c.723A>G (p.Gly241=)
|
|
|
NM_000170.3(GLDC):c.726C>T (p.Val242=)
|
rs377750481
|
|
NM_000170.3(GLDC):c.72G>A (p.Gly24=)
|
rs1161994258
|
|
NM_000170.3(GLDC):c.72G>C (p.Gly24=)
|
rs1161994258
|
|
NM_000170.3(GLDC):c.747C>G (p.Pro249=)
|
|
|
NM_000170.3(GLDC):c.759C>T (p.Asp253=)
|
|
|
NM_000170.3(GLDC):c.771A>T (p.Lys257Asn)
|
|
|
NM_000170.3(GLDC):c.772G>T (p.Asp258Tyr)
|
rs369719863
|
|
NM_000170.3(GLDC):c.775G>C (p.Val259Leu)
|
|
|
NM_000170.3(GLDC):c.777C>T (p.Val259=)
|
|
|
NM_000170.3(GLDC):c.77C>A (p.Ser26Ter)
|
rs2130032664
|
|
NM_000170.3(GLDC):c.780T>C (p.Ser260=)
|
rs2129898347
|
|
NM_000170.3(GLDC):c.782G>C (p.Gly261Ala)
|
|
|
NM_000170.3(GLDC):c.783A>T (p.Gly261=)
|
|
|
NM_000170.3(GLDC):c.78G>A (p.Ser26=)
|
rs915226152
|
|
NM_000170.3(GLDC):c.78G>T (p.Ser26=)
|
|
|
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu)
|
rs1038444873
|
|
NM_000170.3(GLDC):c.792C>T (p.Phe264=)
|
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp)
|
rs1818705322
|
|
NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter)
|
rs2129898271
|
|
NM_000170.3(GLDC):c.80_93del (p.Gly27fs)
|
|
|
NM_000170.3(GLDC):c.810G>A (p.Glu270=)
|
rs760055824
|
|
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
|
|
|
NM_000170.3(GLDC):c.815A>C (p.Lys272Thr)
|
|
|
NM_000170.3(GLDC):c.815A>G (p.Lys272Arg)
|
rs566939288
|
|
NM_000170.3(GLDC):c.815A>T (p.Lys272Met)
|
|
|
NM_000170.3(GLDC):c.819G>A (p.Val273=)
|
rs2129898179
|
|
NM_000170.3(GLDC):c.81G>A (p.Gly27=)
|
rs1457809070
|
|
NM_000170.3(GLDC):c.81G>T (p.Gly27=)
|
|
|
NM_000170.3(GLDC):c.825C>G (p.Asp275Glu)
|
rs1818704651
|
|
NM_000170.3(GLDC):c.827T>C (p.Phe276Ser)
|
rs967825860
|
|
NM_000170.3(GLDC):c.830C>G (p.Thr277Arg)
|
|
|
NM_000170.3(GLDC):c.830C>T (p.Thr277Met)
|
|
|
NM_000170.3(GLDC):c.831G>C (p.Thr277=)
|
rs369824891
|
|
NM_000170.3(GLDC):c.831G>T (p.Thr277=)
|
rs369824891
|
|
NM_000170.3(GLDC):c.834A>G (p.Glu278=)
|
|
|
NM_000170.3(GLDC):c.835C>A (p.Leu279Ile)
|
|
|
NM_000170.3(GLDC):c.837C>T (p.Leu279=)
|
rs755904706
|
|
NM_000170.3(GLDC):c.840G>A (p.Val280=)
|
|
|
NM_000170.3(GLDC):c.840G>T (p.Val280=)
|
rs781162390
|
|
NM_000170.3(GLDC):c.843G>T (p.Glu281Asp)
|
rs1563857008
|
|
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
|
|
|
NM_000170.3(GLDC):c.847G>A (p.Ala283Thr)
|
rs386833589
|
|
NM_000170.3(GLDC):c.849T>C (p.Ala283=)
|
rs2129898030
|
|
NM_000170.3(GLDC):c.84G>A (p.Pro28=)
|
|
|
NM_000170.3(GLDC):c.84G>C (p.Pro28=)
|
rs1259938806
|
|
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
|
|
|
NM_000170.3(GLDC):c.858T>G (p.Ser286Arg)
|
|
|
NM_000170.3(GLDC):c.859G>C (p.Gly287Arg)
|
rs1291181951
|
|
NM_000170.3(GLDC):c.859G>T (p.Gly287Trp)
|
rs1291181951
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
NM_000170.3(GLDC):c.861+18G>C
|
|
|
NM_000170.3(GLDC):c.861+18G>T
|
rs1387226807
|
|
NM_000170.3(GLDC):c.861+20G>T
|
|
|
NM_000170.3(GLDC):c.861+2T>A
|
rs2129897960
|
|
NM_000170.3(GLDC):c.861+2T>C
|
|
|
NM_000170.3(GLDC):c.861+4G>A
|
|
|
NM_000170.3(GLDC):c.861+5G>A
|
rs192663616
|
|
NM_000170.3(GLDC):c.861+5G>C
|
rs192663616
|
|
NM_000170.3(GLDC):c.861+7dup
|
rs2129897938
|
|
NM_000170.3(GLDC):c.861+8_861+9del
|
rs753142140
|
|
NM_000170.3(GLDC):c.861G>C (p.Gly287=)
|
rs540315265
|
|
NM_000170.3(GLDC):c.861G>T (p.Gly287=)
|
|
|
NM_000170.3(GLDC):c.862-10T>A
|
rs1264036061
|
|
NM_000170.3(GLDC):c.862-16C>T
|
rs780268150
|
|
NM_000170.3(GLDC):c.862-18C>G
|
|
|
NM_000170.3(GLDC):c.862-18C>T
|
|
|
NM_000170.3(GLDC):c.862-5_883del
|
rs2129896575
|
|
NM_000170.3(GLDC):c.862-7T>C
|
rs761854548
|
|
NM_000170.3(GLDC):c.862-7T>G
|
rs761854548
|
|
NM_000170.3(GLDC):c.862-8C>G
|
|
|
NM_000170.3(GLDC):c.862-9C>G
|
rs1818696548
|
|
NM_000170.3(GLDC):c.862-9C>T
|
|
|
NM_000170.3(GLDC):c.862-9_862-6del
|
rs2129896706
|
|
NM_000170.3(GLDC):c.864C>T (p.Ser288=)
|
|
|
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)
|
rs141014950
|
|
NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr)
|
rs777632051
|
|
NM_000170.3(GLDC):c.879T>A (p.Ala293=)
|
rs776503486
|
|
NM_000170.3(GLDC):c.87C>T (p.Cys29=)
|
rs2130032585
|
|
NM_000170.3(GLDC):c.880A>G (p.Thr294Ala)
|
rs1818695779
|
|
NM_000170.3(GLDC):c.882T>C (p.Thr294=)
|
rs757906469
|
|
NM_000170.3(GLDC):c.885C>G (p.Asp295Glu)
|
|
|
NM_000170.3(GLDC):c.88T>A (p.Trp30Arg)
|
|
|
NM_000170.3(GLDC):c.894T>C (p.Ala298=)
|
rs2129896515
|
|
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)
|
rs1819724531
|
|
NM_000170.3(GLDC):c.89G>T (p.Trp30Leu)
|
|
|
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
|
|
|
NM_000170.3(GLDC):c.903C>T (p.Ile301=)
|
rs1818695265
|
|
NM_000170.3(GLDC):c.906G>A (p.Leu302=)
|
|
|
NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)
|
|
|
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln)
|
rs1207147043
|
|
NM_000170.3(GLDC):c.912A>G (p.Pro304=)
|
|
|
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr)
|
rs370964168
|
|
NM_000170.3(GLDC):c.918A>C (p.Gly306=)
|
rs1157125186
|
|
NM_000170.3(GLDC):c.918A>G (p.Gly306=)
|
|
|
NM_000170.3(GLDC):c.91G>T (p.Ala31Ser)
|
|
|
NM_000170.3(GLDC):c.91del (p.Ala31fs)
|
|
|
NM_000170.3(GLDC):c.921A>G (p.Glu307=)
|
|
|
NM_000170.3(GLDC):c.925G>A (p.Gly309Arg)
|
|
|
NM_000170.3(GLDC):c.926G>T (p.Gly309Val)
|
|
|
NM_000170.3(GLDC):c.930A>C (p.Val310=)
|
|
|
NM_000170.3(GLDC):c.931G>A (p.Asp311Asn)
|
|
|
NM_000170.3(GLDC):c.933C>T (p.Asp311=)
|
|
|
NM_000170.3(GLDC):c.937G>A (p.Ala313Thr)
|
|
|
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
|
|
|
NM_000170.3(GLDC):c.939C>T (p.Ala313=)
|
|
|
NM_000170.3(GLDC):c.93G>C (p.Ala31=)
|
rs2130032552
|
|
NM_000170.3(GLDC):c.945C>G (p.Gly315=)
|
|
|
NM_000170.3(GLDC):c.948C>T (p.Ser316=)
|
rs2129896227
|
|
NM_000170.3(GLDC):c.94_121del (p.Pro32fs)
|
|
|
NM_000170.3(GLDC):c.953A>G (p.Gln318Arg)
|
|
|
NM_000170.3(GLDC):c.954G>A (p.Gln318=)
|
rs1818693894
|
|
NM_000170.3(GLDC):c.957A>G (p.Arg319=)
|
|
|
NM_000170.3(GLDC):c.959T>C (p.Phe320Ser)
|
rs773173613
|
|
NM_000170.3(GLDC):c.95C>T (p.Pro32Leu)
|
|
|
NM_000170.3(GLDC):c.960T>C (p.Phe320=)
|
|
|
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg)
|
rs1184125501
|
|
NM_000170.3(GLDC):c.962G>C (p.Gly321Ala)
|
rs1818693650
|
|
NM_000170.3(GLDC):c.963A>G (p.Gly321=)
|
rs1471765259
|
|
NM_000170.3(GLDC):c.969_970dup (p.Leu324fs)
|
rs1818693456
|
|
NM_000170.3(GLDC):c.96G>A (p.Pro32=)
|
rs1430526811
|
|
NM_000170.3(GLDC):c.975C>G (p.Gly325=)
|
rs748941890
|
|
NM_000170.3(GLDC):c.976T>C (p.Tyr326His)
|
|
|
NM_000170.3(GLDC):c.978T>C (p.Tyr326=)
|
|
|
NM_000170.3(GLDC):c.97C>T (p.Arg33Trp)
|
|
|
NM_000170.3(GLDC):c.981G>A (p.Gly327=)
|
rs1818693268
|
|
NM_000170.3(GLDC):c.981G>C (p.Gly327=)
|
rs1818693268
|
|
NM_000170.3(GLDC):c.981G>T (p.Gly327=)
|
|
|
NM_000170.3(GLDC):c.983G>A (p.Gly328Glu)
|
|
|
NM_000170.3(GLDC):c.984A>G (p.Gly328=)
|
rs2129896036
|
|
NM_000170.3(GLDC):c.984A>T (p.Gly328=)
|
|
|
NM_000170.3(GLDC):c.993A>G (p.Ala331=)
|
|
|
NM_000170.3(GLDC):c.996A>C (p.Ala332=)
|
|
|
NM_000170.3(GLDC):c.996A>G (p.Ala332=)
|
|
|
NM_000170.3(GLDC):c.99G>A (p.Arg33=)
|
rs1554652817
|
|
NM_000170.3(GLDC):c.9C>G (p.Ser3=)
|
|
|
NM_000170.3(GLDC):c.9C>T (p.Ser3=)
|
|
|
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile)
|
rs2107929053
|
|
NM_000481.4(AMT):c.1002T>C (p.Ser334=)
|
|
|
NM_000481.4(AMT):c.1005C>T (p.Pro335=)
|
rs2107929049
|
|
NM_000481.4(AMT):c.1008C>T (p.Ile336=)
|
|
|
NM_000481.4(AMT):c.1009C>T (p.Leu337=)
|
|
|
NM_000481.4(AMT):c.1011G>C (p.Leu337=)
|
rs1339213409
|
|
NM_000481.4(AMT):c.102C>T (p.Arg34=)
|
|
|
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe)
|
rs2049024917
|
|
NM_000481.4(AMT):c.1033+10C>T
|
|
|
NM_000481.4(AMT):c.1033+13G>C
|
|
|
NM_000481.4(AMT):c.1033+17A>G
|
|
|
NM_000481.4(AMT):c.1033+18G>A
|
|
|
NM_000481.4(AMT):c.1033+18G>C
|
|
|
NM_000481.4(AMT):c.1033+1G>A
|
|
|
NM_000481.4(AMT):c.1033+1G>C
|
rs2107928969
|
|
NM_000481.4(AMT):c.1033+2T>C
|
rs1553638247
|
|
NM_000481.4(AMT):c.1034-11T>G
|
|
|
NM_000481.4(AMT):c.1034-16T>C
|
|
|
NM_000481.4(AMT):c.1034-19G>A
|
|
|
NM_000481.4(AMT):c.1034-1G>C
|
rs1575302765
|
|
NM_000481.4(AMT):c.1034-30_1034-18dup
|
rs2107928803
|
|
NM_000481.4(AMT):c.1034-6T>C
|
|
|
NM_000481.4(AMT):c.1034-8C>T
|
|
|
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
|
|
|
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
|
|
|
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
|
|
|
NM_000481.4(AMT):c.1053C>T (p.Cys351=)
|
rs747901545
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)
|
rs768293167
|
|
NM_000481.4(AMT):c.1059C>T (p.Ser353=)
|
|
|
NM_000481.4(AMT):c.1062C>G (p.Pro354=)
|
rs377227163
|
|
NM_000481.4(AMT):c.1062C>T (p.Pro354=)
|
rs377227163
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)
|
|
|
NM_000481.4(AMT):c.1076A>C (p.Asn359Thr)
|
rs2107928652
|
|
NM_000481.4(AMT):c.1077T>C (p.Asn359=)
|
rs1559527521
|
|
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
|
|
|
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.1089T>C (p.Gly363=)
|
|
|
NM_000481.4(AMT):c.108A>C (p.Thr36=)
|
rs1179441264
|
|
NM_000481.4(AMT):c.108A>G (p.Thr36=)
|
|
|
NM_000481.4(AMT):c.1098C>T (p.Pro366=)
|
rs1231229906
|
|
NM_000481.4(AMT):c.10G>C (p.Ala4Pro)
|
rs753829515
|
|
NM_000481.4(AMT):c.10del (p.Ala4fs)
|
|
|
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
|
|
|
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
|
|
|
NM_000481.4(AMT):c.1104G>A (p.Glu368=)
|
rs767969842
|
|
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)
|
rs2049020585
|
|
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
|
|
|
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys)
|
rs1200405341
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
NM_000481.4(AMT):c.1122A>G (p.Thr374=)
|
rs2107928529
|
|
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
|
|
|
NM_000481.4(AMT):c.1128G>C (p.Leu376=)
|
rs2107928524
|
|
NM_000481.4(AMT):c.1131G>A (p.Leu377=)
|
|
|
NM_000481.4(AMT):c.1134A>C (p.Val378=)
|
rs2107928520
|
|
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
|
rs1306590343
|
|
NM_000481.4(AMT):c.1141C>A (p.Arg381=)
|
rs775324601
|
|
NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)
|
|
|
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)
|
rs747544827
|
|
NM_000481.4(AMT):c.1155G>C (p.Gln385His)
|
|
|
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
|
|
|
NM_000481.4(AMT):c.1164A>C (p.Val388=)
|
|
|
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
|
|
|
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
|
|
|
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
|
|
|
NM_000481.4(AMT):c.1191A>C (p.Thr397=)
|
rs2107928409
|
|
NM_000481.4(AMT):c.1197C>T (p.Tyr399=)
|
rs756452579
|
|
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
|
|
|
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
|
|
|
NM_000481.4(AMT):c.1203C>T (p.Thr401=)
|
rs1489152600
|
|
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
|
|
|
NM_000481.4(AMT):c.1204_1206del (p.Leu402del)
|
rs1559527384
|
|
NM_000481.4(AMT):c.1206C>G (p.Leu402=)
|
rs2107928357
|
|
NM_000481.4(AMT):c.1209del (p.Lys403fs)
|
rs1553638189
|
|
NM_000481.4(AMT):c.127C>T (p.Leu43=)
|
|
|
NM_000481.4(AMT):c.12T>A (p.Ala4=)
|
|
|
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
|
rs2049118414
|
|
NM_000481.4(AMT):c.132C>T (p.Ala44=)
|
|
|
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
|
|
|
NM_000481.4(AMT):c.138C>T (p.Gly46=)
|
|
|
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
|
|
|
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
|
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000481.4(AMT):c.150G>A (p.Val50=)
|
|
|
NM_000481.4(AMT):c.153G>T (p.Ala51=)
|
rs768510463
|
|
NM_000481.4(AMT):c.155T>C (p.Phe52Ser)
|
rs2107937639
|
|
NM_000481.4(AMT):c.155T>G (p.Phe52Cys)
|
rs2107937639
|
|
NM_000481.4(AMT):c.156T>C (p.Phe52=)
|
rs993993334
|
|
NM_000481.4(AMT):c.159G>C (p.Ala53=)
|
rs201080782
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.164G>A (p.Trp55Ter)
|
rs1559530507
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.168_171del (p.Leu57fs)
|
rs2107937574
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.171G>T (p.Leu57=)
|
rs2107937565
|
|
NM_000481.4(AMT):c.175G>A (p.Val59Met)
|
|
|
NM_000481.4(AMT):c.178C>T (p.Gln60Ter)
|
rs2107937536
|
|
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
|
|
|
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
|
|
|
NM_000481.4(AMT):c.186G>C (p.Arg62=)
|
rs2049116342
|
|
NM_000481.4(AMT):c.188A>G (p.Asp63Gly)
|
rs2107937495
|
|
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
|
|
|
NM_000481.4(AMT):c.18T>C (p.Ser6=)
|
|
|
NM_000481.4(AMT):c.196A>G (p.Thr66Ala)
|
rs2049115954
|
|
NM_000481.4(AMT):c.216A>G (p.Thr72=)
|
rs2049115116
|
|
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
|
|
|
NM_000481.4(AMT):c.21G>C (p.Val7=)
|
|
|
NM_000481.4(AMT):c.221del (p.Gln74fs)
|
rs2107937370
|
|
NM_000481.4(AMT):c.222G>A (p.Gln74=)
|
rs2107937363
|
|
NM_000481.4(AMT):c.224del (p.His75fs)
|
rs2107937352
|
|
NM_000481.4(AMT):c.228C>T (p.Cys76=)
|
|
|
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
|
|
|
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
|
|
|
NM_000481.4(AMT):c.240C>T (p.Asp80=)
|
rs1316776129
|
|
NM_000481.4(AMT):c.241G>A (p.Val81Met)
|
|
|
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
|
|
|
NM_000481.4(AMT):c.248A>C (p.His83Pro)
|
|
|
NM_000481.4(AMT):c.250_251del (p.Met84fs)
|
|
|
NM_000481.4(AMT):c.256C>T (p.Gln86Ter)
|
rs1575308888
|
|
NM_000481.4(AMT):c.257dup (p.Thr87fs)
|
rs2107937267
|
|
NM_000481.4(AMT):c.258+10G>A
|
rs2107937238
|
|
NM_000481.4(AMT):c.258+13A>G
|
|
|
NM_000481.4(AMT):c.258+14G>A
|
|
|
NM_000481.4(AMT):c.258+17C>T
|
|
|
NM_000481.4(AMT):c.258+1G>A
|
|
|
NM_000481.4(AMT):c.258+6C>G
|
rs1451725049
|
|
NM_000481.4(AMT):c.258+8del
|
|
|
NM_000481.4(AMT):c.259-13A>G
|
|
|
NM_000481.4(AMT):c.259-16T>C
|
|
|
NM_000481.4(AMT):c.259-20G>A
|
|
|
NM_000481.4(AMT):c.259-2A>C
|
rs748522054
|
|
NM_000481.4(AMT):c.259-4C>T
|
rs769933849
|
|
NM_000481.4(AMT):c.259-6C>T
|
rs2049102970
|
|
NM_000481.4(AMT):c.259-8dup
|
rs1195350527
|
|
NM_000481.4(AMT):c.259-9C>T
|
rs2107936124
|
|
NM_000481.4(AMT):c.261C>G (p.Thr87=)
|
|
|
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
|
|
|
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro)
|
rs2107936070
|
|
NM_000481.4(AMT):c.270T>C (p.Leu90=)
|
|
|
NM_000481.4(AMT):c.271_273del (p.Gly91del)
|
rs2107936054
|
|
NM_000481.4(AMT):c.279C>T (p.Asp93=)
|
rs1575308228
|
|
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
|
|
|
NM_000481.4(AMT):c.282G>A (p.Arg94=)
|
|
|
NM_000481.4(AMT):c.285G>A (p.Val95=)
|
rs2049102202
|
|
NM_000481.4(AMT):c.288G>A (p.Lys96=)
|
|
|
NM_000481.4(AMT):c.289C>T (p.Leu97=)
|
|
|
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
|
|
|
NM_000481.4(AMT):c.293T>G (p.Met98Arg)
|
rs2107935989
|
|
NM_000481.4(AMT):c.297G>A (p.Glu99=)
|
rs2107935984
|
|
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
|
|
|
NM_000481.4(AMT):c.2T>A (p.Met1Lys)
|
rs1266259634
|
|
NM_000481.4(AMT):c.2T>C (p.Met1Thr)
|
rs1266259634
|
|
NM_000481.4(AMT):c.303A>G (p.Leu101=)
|
rs756789501
|
|
NM_000481.4(AMT):c.306G>A (p.Val102=)
|
|
|
NM_000481.4(AMT):c.306G>C (p.Val102=)
|
rs964800487
|
|
NM_000481.4(AMT):c.324G>A (p.Glu108=)
|
|
|
NM_000481.4(AMT):c.335A>G (p.Asn112Ser)
|
rs2107935915
|
|
NM_000481.4(AMT):c.339+15T>C
|
|
|
NM_000481.4(AMT):c.339+17C>T
|
|
|
NM_000481.4(AMT):c.339+18T>G
|
|
|
NM_000481.4(AMT):c.339+3G>A
|
rs752570901
|
|
NM_000481.4(AMT):c.339+3G>T
|
rs752570901
|
|
NM_000481.4(AMT):c.339+8C>A
|
|
|
NM_000481.4(AMT):c.340-10T>C
|
|
|
NM_000481.4(AMT):c.340-12C>T
|
|
|
NM_000481.4(AMT):c.340-17C>T
|
|
|
NM_000481.4(AMT):c.340-18G>A
|
|
|
NM_000481.4(AMT):c.340-9T>C
|
rs2107933861
|
|
NM_000481.4(AMT):c.340-9del
|
|
|
NM_000481.4(AMT):c.345A>T (p.Thr115=)
|
|
|
NM_000481.4(AMT):c.346C>T (p.Leu116=)
|
|
|
NM_000481.4(AMT):c.351G>A (p.Ser117=)
|
|
|
NM_000481.4(AMT):c.357T>C (p.Phe119=)
|
rs1559529373
|
|
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
|
|
|
NM_000481.4(AMT):c.359C>T (p.Thr120Ile)
|
rs766350668
|
|
NM_000481.4(AMT):c.35G>A (p.Gly12Asp)
|
|
|
NM_000481.4(AMT):c.360C>T (p.Thr120=)
|
|
|
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)
|
|
|
NM_000481.4(AMT):c.371G>A (p.Gly124Glu)
|
rs1575306496
|
|
NM_000481.4(AMT):c.372A>C (p.Gly124=)
|
rs1365568599
|
|
NM_000481.4(AMT):c.381A>G (p.Leu127=)
|
rs2049077607
|
|
NM_000481.4(AMT):c.387C>T (p.Asp129=)
|
|
|
NM_000481.4(AMT):c.393T>C (p.Ile131=)
|
rs2107933716
|
|
NM_000481.4(AMT):c.402T>C (p.Asn134=)
|
rs2107933698
|
|
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
|
|
|
NM_000481.4(AMT):c.414C>T (p.Gly138=)
|
|
|
NM_000481.4(AMT):c.415C>G (p.His139Asp)
|
|
|
NM_000481.4(AMT):c.41G>A (p.Arg14His)
|
|
|
NM_000481.4(AMT):c.423T>C (p.Tyr141=)
|
|
|
NM_000481.4(AMT):c.42C>T (p.Arg14=)
|
rs2107938326
|
|
NM_000481.4(AMT):c.432C>G (p.Ser144=)
|
rs2107933634
|
|
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
|
|
|
NM_000481.4(AMT):c.450G>A (p.Glu150=)
|
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.467T>C (p.Met156Thr)
|
rs2107933555
|
|
NM_000481.4(AMT):c.471+10C>G
|
|
|
NM_000481.4(AMT):c.471+10C>T
|
|
|
NM_000481.4(AMT):c.471+10del
|
|
|
NM_000481.4(AMT):c.471+10dup
|
|
|
NM_000481.4(AMT):c.471+11T>C
|
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.471+14G>A
|
|
|
NM_000481.4(AMT):c.471+19C>A
|
|
|
NM_000481.4(AMT):c.471+20T>C
|
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.471+2_471+7del
|
|
|
NM_000481.4(AMT):c.471+8C>T
|
rs367986797
|
|
NM_000481.4(AMT):c.471+9C>A
|
rs760770619
|
|
NM_000481.4(AMT):c.471+9C>G
|
|
|
NM_000481.4(AMT):c.472-10T>C
|
rs1211622746
|
|
NM_000481.4(AMT):c.472-11C>T
|
|
|
NM_000481.4(AMT):c.472-17G>C
|
|
|
NM_000481.4(AMT):c.472-19_472-18del
|
|
|
NM_000481.4(AMT):c.472-7C>T
|
|
|
NM_000481.4(AMT):c.472-8T>C
|
|
|
NM_000481.4(AMT):c.472-9G>A
|
|
|
NM_000481.4(AMT):c.474C>T (p.Asp158=)
|
rs765176362
|
|
NM_000481.4(AMT):c.477G>A (p.Lys159=)
|
rs2107932948
|
|
NM_000481.4(AMT):c.486G>A (p.Glu162=)
|
|
|
NM_000481.4(AMT):c.489T>G (p.Leu163=)
|
|
|
NM_000481.4(AMT):c.501C>A (p.Gly167=)
|
|
|
NM_000481.4(AMT):c.501C>G (p.Gly167=)
|
|
|
NM_000481.4(AMT):c.502A>C (p.Arg168=)
|
rs2107932896
|
|
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
|
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_000481.4(AMT):c.514C>T (p.Leu172=)
|
|
|
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
NM_000481.4(AMT):c.522G>A (p.Val174=)
|
|
|
NM_000481.4(AMT):c.523T>C (p.Leu175=)
|
rs535318089
|
|
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
|
|
|
NM_000481.4(AMT):c.531T>C (p.Asn177=)
|
rs2049066669
|
|
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
|
|
|
NM_000481.4(AMT):c.534C>T (p.Ala178=)
|
rs928504970
|
|
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
|
|
|
NM_000481.4(AMT):c.538C>T (p.Leu180=)
|
rs1559528976
|
|
NM_000481.4(AMT):c.546G>T (p.Leu182=)
|
|
|
NM_000481.4(AMT):c.550+10C>G
|
|
|
NM_000481.4(AMT):c.550+10_550+15del
|
|
|
NM_000481.4(AMT):c.550+12G>A
|
|
|
NM_000481.4(AMT):c.550+16T>C
|
|
|
NM_000481.4(AMT):c.550+17G>A
|
|
|
NM_000481.4(AMT):c.550+18G>C
|
|
|
NM_000481.4(AMT):c.550+5G>A
|
|
|
NM_000481.4(AMT):c.550+7G>A
|
rs755478633
|
|
NM_000481.4(AMT):c.550+9G>A
|
|
|
NM_000481.4(AMT):c.550+9G>T
|
|
|
NM_000481.4(AMT):c.551-11C>T
|
rs760119523
|
|
NM_000481.4(AMT):c.551-15G>A
|
|
|
NM_000481.4(AMT):c.551-18C>G
|
|
|
NM_000481.4(AMT):c.551-4C>T
|
|
|
NM_000481.4(AMT):c.551-6G>A
|
rs937463808
|
|
NM_000481.4(AMT):c.551-9T>C
|
|
|
NM_000481.4(AMT):c.552C>A (p.Gly184=)
|
|
|
NM_000481.4(AMT):c.552C>T (p.Gly184=)
|
rs771745221
|
|
NM_000481.4(AMT):c.561A>C (p.Ala187=)
|
rs2107932359
|
|
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
|
|
|
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
|
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
|
|
|
NM_000481.4(AMT):c.579C>A (p.Ala193=)
|
rs749313171
|
|
NM_000481.4(AMT):c.57C>T (p.Pro19=)
|
rs770512923
|
|
NM_000481.4(AMT):c.57_59dup (p.Pro20dup)
|
rs386833686
|
|
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
|
|
|
NM_000481.4(AMT):c.582C>A (p.Gly194=)
|
rs377552553
|
|
NM_000481.4(AMT):c.585G>A (p.Val195=)
|
rs2049060090
|
|
NM_000481.4(AMT):c.591T>C (p.Asp197=)
|
rs2107932258
|
|
NM_000481.4(AMT):c.597G>A (p.Leu199=)
|
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.59dup (p.Ala21fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.602_603del (p.Lys201fs)
|
rs1279743247
|
|
NM_000481.4(AMT):c.609C>A (p.Pro203=)
|
rs1314175857
|
|
NM_000481.4(AMT):c.609dup (p.Phe204fs)
|
rs2107932226
|
|
NM_000481.4(AMT):c.614T>G (p.Met205Arg)
|
rs2107932197
|
|
NM_000481.4(AMT):c.621T>C (p.Ser207=)
|
rs2107932184
|
|
NM_000481.4(AMT):c.624T>C (p.Ala208=)
|
|
|
NM_000481.4(AMT):c.625G>A (p.Val209Met)
|
rs370287514
|
|
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
|
|
|
NM_000481.4(AMT):c.633G>A (p.Glu211=)
|
|
|
NM_000481.4(AMT):c.643G>A (p.Val215Met)
|
rs1030915796
|
|
NM_000481.4(AMT):c.643G>C (p.Val215Leu)
|
rs1030915796
|
|
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
|
|
|
NM_000481.4(AMT):c.648T>C (p.Ser216=)
|
|
|
NM_000481.4(AMT):c.651C>T (p.Gly217=)
|
rs1256823141
|
|
NM_000481.4(AMT):c.654C>T (p.Cys218=)
|
|
|
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)
|
|
|
NM_000481.4(AMT):c.663C>A (p.Thr221=)
|
rs2107932078
|
|
NM_000481.4(AMT):c.664C>A (p.Arg222Ser)
|
rs781466698
|
|
NM_000481.4(AMT):c.666C>A (p.Arg222=)
|
rs2107932060
|
|
NM_000481.4(AMT):c.666C>T (p.Arg222=)
|
rs2107932060
|
|
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
|
|
|
NM_000481.4(AMT):c.669T>C (p.Cys223=)
|
rs2107932045
|
|
NM_000481.4(AMT):c.66G>A (p.Leu22=)
|
rs2107938211
|
|
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
|
|
|
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)
|
rs386833689
|
|
NM_000481.4(AMT):c.677C>T (p.Thr226Ile)
|
rs2107932030
|
|
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
|
|
|
NM_000481.4(AMT):c.681A>G (p.Gly227=)
|
rs2107932020
|
|
NM_000481.4(AMT):c.685G>C (p.Asp229His)
|
rs1553638463
|
|
NM_000481.4(AMT):c.687T>C (p.Asp229=)
|
rs1292063206
|
|
NM_000481.4(AMT):c.690T>C (p.Gly230=)
|
|
|
NM_000481.4(AMT):c.693G>A (p.Val231=)
|
|
|
NM_000481.4(AMT):c.696+10G>A
|
|
|
NM_000481.4(AMT):c.696+15G>A
|
|
|
NM_000481.4(AMT):c.696+16_696+18del
|
|
|
NM_000481.4(AMT):c.696+19T>C
|
|
|
NM_000481.4(AMT):c.696+20G>T
|
|
|
NM_000481.4(AMT):c.696+2T>A
|
rs541594122
|
|
NM_000481.4(AMT):c.696+9A>G
|
|
|
NM_000481.4(AMT):c.696+9A>T
|
rs758602446
|
|
NM_000481.4(AMT):c.697-10T>C
|
rs2107931790
|
|
NM_000481.4(AMT):c.697-14G>A
|
|
|
NM_000481.4(AMT):c.697-17T>C
|
|
|
NM_000481.4(AMT):c.697-18C>T
|
|
|
NM_000481.4(AMT):c.697-19C>T
|
|
|
NM_000481.4(AMT):c.697-1G>A
|
|
|
NM_000481.4(AMT):c.697-20C>T
|
|
|
NM_000481.4(AMT):c.697-2A>C
|
|
|
NM_000481.4(AMT):c.697-7C>T
|
rs2107931789
|
|
NM_000481.4(AMT):c.697-8T>G
|
|
|
NM_000481.4(AMT):c.699C>A (p.Ile233=)
|
rs369840558
|
|
NM_000481.4(AMT):c.6G>A (p.Gln2=)
|
|
|
NM_000481.4(AMT):c.705G>T (p.Val235=)
|
rs1324646911
|
|
NM_000481.4(AMT):c.708G>A (p.Pro236=)
|
rs760662679
|
|
NM_000481.4(AMT):c.708G>C (p.Pro236=)
|
|
|
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
|
|
|
NM_000481.4(AMT):c.70C>T (p.Arg24Cys)
|
rs371656220
|
|
NM_000481.4(AMT):c.714G>A (p.Ala238=)
|
rs772179698
|
|
NM_000481.4(AMT):c.714G>C (p.Ala238=)
|
|
|
NM_000481.4(AMT):c.714G>T (p.Ala238=)
|
rs772179698
|
|
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
|
|
|
NM_000481.4(AMT):c.719C>T (p.Ala240Val)
|
|
|
NM_000481.4(AMT):c.721G>A (p.Val241Ile)
|
rs1004875097
|
|
NM_000481.4(AMT):c.727C>A (p.Leu243Met)
|
rs1575304886
|
|
NM_000481.4(AMT):c.732A>C (p.Ala244=)
|
|
|
NM_000481.4(AMT):c.732A>G (p.Ala244=)
|
rs2049053045
|
|
NM_000481.4(AMT):c.734_735del (p.Thr245fs)
|
rs2049052992
|
|
NM_000481.4(AMT):c.738T>A (p.Ala246=)
|
rs746145744
|
|
NM_000481.4(AMT):c.738T>C (p.Ala246=)
|
|
|
NM_000481.4(AMT):c.73C>T (p.Pro25Ser)
|
rs751869343
|
|
NM_000481.4(AMT):c.74del (p.Pro25fs)
|
|
|
NM_000481.4(AMT):c.753A>G (p.Pro251=)
|
|
|
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
|
|
|
NM_000481.4(AMT):c.756G>A (p.Glu252=)
|
|
|
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
|
|
|
NM_000481.4(AMT):c.75A>G (p.Pro25=)
|
|
|
NM_000481.4(AMT):c.765G>A (p.Leu255=)
|
|
|
NM_000481.4(AMT):c.768A>T (p.Ala256=)
|
|
|
NM_000481.4(AMT):c.771G>A (p.Gly257=)
|
rs1575304815
|
|
NM_000481.4(AMT):c.771G>C (p.Gly257=)
|
|
|
NM_000481.4(AMT):c.771del (p.Leu258fs)
|
|
|
NM_000481.4(AMT):c.774G>A (p.Leu258=)
|
rs756652661
|
|
NM_000481.4(AMT):c.77T>A (p.Leu26His)
|
|
|
NM_000481.4(AMT):c.786C>T (p.Asp262=)
|
|
|
NM_000481.4(AMT):c.796C>T (p.Leu266=)
|
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000481.4(AMT):c.805G>A (p.Gly269Ser)
|
rs2049051018
|
|
NM_000481.4(AMT):c.806G>A (p.Gly269Asp)
|
rs121964981
|
|
NM_000481.4(AMT):c.810C>T (p.Leu270=)
|
rs2107931481
|
|
NM_000481.4(AMT):c.813C>T (p.Cys271=)
|
rs2107931474
|
|
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
|
|
|
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter)
|
rs2107931458
|
|
NM_000481.4(AMT):c.81T>C (p.Ser27=)
|
rs2107938151
|
|
NM_000481.4(AMT):c.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
|
|
|
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
|
|
|
NM_000481.4(AMT):c.830T>A (p.Ile277Asn)
|
rs1052014497
|
|
NM_000481.4(AMT):c.840C>T (p.His280=)
|
rs759675831
|
|
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
|
|
|
NM_000481.4(AMT):c.843T>A (p.Thr281=)
|
|
|
NM_000481.4(AMT):c.843T>G (p.Thr281=)
|
rs774244896
|
|
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
|
|
|
NM_000481.4(AMT):c.849T>A (p.Pro283=)
|
|
|
NM_000481.4(AMT):c.850G>A (p.Val284Met)
|
rs2107931384
|
|
NM_000481.4(AMT):c.855G>A (p.Glu285=)
|
rs2049049754
|
|
NM_000481.4(AMT):c.856G>A (p.Gly286Ser)
|
rs778159864
|
|
NM_000481.4(AMT):c.857G>A (p.Gly286Asp)
|
rs2049049669
|
|
NM_000481.4(AMT):c.867T>C (p.Ser289=)
|
rs1342940505
|
|
NM_000481.4(AMT):c.877+16A>C
|
|
|
NM_000481.4(AMT):c.877+17C>T
|
|
|
NM_000481.4(AMT):c.877+18T>C
|
|
|
NM_000481.4(AMT):c.877+5G>A
|
|
|
NM_000481.4(AMT):c.877+7T>G
|
rs2107931324
|
|
NM_000481.4(AMT):c.877+9G>A
|
|
|
NM_000481.4(AMT):c.877+9G>C
|
|
|
NM_000481.4(AMT):c.878-11del
|
|
|
NM_000481.4(AMT):c.878-12G>A
|
|
|
NM_000481.4(AMT):c.878-15T>C
|
rs771225879
|
|
NM_000481.4(AMT):c.878-16A>T
|
rs904011401
|
|
NM_000481.4(AMT):c.878-19C>G
|
|
|
NM_000481.4(AMT):c.878-19C>T
|
|
|
NM_000481.4(AMT):c.878-6dup
|
rs2107929373
|
|
NM_000481.4(AMT):c.878-7T>C
|
|
|
NM_000481.4(AMT):c.878-7del
|
|
|
NM_000481.4(AMT):c.878-8T>C
|
rs2107929385
|
|
NM_000481.4(AMT):c.878-9A>G
|
|
|
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)
|
|
|
NM_000481.4(AMT):c.879G>A (p.Gly293=)
|
rs972670254
|
|
NM_000481.4(AMT):c.87A>G (p.Ala29=)
|
|
|
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
|
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.887G>T (p.Arg296Leu)
|
rs386833690
|
|
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
|
rs2049028177
|
|
NM_000481.4(AMT):c.90+10A>G
|
|
|
NM_000481.4(AMT):c.90+10A>T
|
rs1415657857
|
|
NM_000481.4(AMT):c.90+12G>A
|
|
|
NM_000481.4(AMT):c.90+13G>A
|
|
|
NM_000481.4(AMT):c.90+1G>T
|
|
|
NM_000481.4(AMT):c.90+20T>C
|
|
|
NM_000481.4(AMT):c.90+4G>A
|
rs2107938113
|
|
NM_000481.4(AMT):c.90+5G>C
|
|
|
NM_000481.4(AMT):c.90+9G>C
|
rs1447827681
|
|
NM_000481.4(AMT):c.906C>T (p.Phe302=)
|
|
|
NM_000481.4(AMT):c.908del (p.Pro303fs)
|
rs1575303218
|
|
NM_000481.4(AMT):c.91-10C>A
|
|
|
NM_000481.4(AMT):c.91-14C>T
|
|
|
NM_000481.4(AMT):c.91-20C>G
|
|
|
NM_000481.4(AMT):c.91-2A>G
|
|
|
NM_000481.4(AMT):c.91-7C>T
|
rs758737016
|
|
NM_000481.4(AMT):c.911G>A (p.Gly304Glu)
|
rs2049027770
|
|
NM_000481.4(AMT):c.923T>C (p.Ile308Thr)
|
|
|
NM_000481.4(AMT):c.928C>T (p.Pro310Ser)
|
|
|
NM_000481.4(AMT):c.930C>G (p.Pro310=)
|
|
|
NM_000481.4(AMT):c.930C>T (p.Pro310=)
|
|
|
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
|
|
|
NM_000481.4(AMT):c.946G>T (p.Val316Leu)
|
|
|
NM_000481.4(AMT):c.948G>A (p.Val316=)
|
rs1575303144
|
|
NM_000481.4(AMT):c.950A>G (p.Gln317Arg)
|
rs146114174
|
|
NM_000481.4(AMT):c.957G>A (p.Arg319=)
|
|
|
NM_000481.4(AMT):c.959G>T (p.Arg320Leu)
|
rs121964985
|
|
NM_000481.4(AMT):c.95T>C (p.Val32Ala)
|
|
|
NM_000481.4(AMT):c.961G>C (p.Val321Leu)
|
|
|
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
|
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
|
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000481.4(AMT):c.99C>T (p.Leu33=)
|
rs2107937805
|
|
NM_001164710.2(AMT):c.340-552del
|
rs2107933839
|
|
NM_004483.5(GCSH):c.113T>G (p.Val38Gly)
|
rs888630308
|
|
NM_004483.5(GCSH):c.132A>C (p.Gly44=)
|
rs1185522027
|
|
NM_004483.5(GCSH):c.132A>T (p.Gly44=)
|
rs1185522027
|
|
NM_004483.5(GCSH):c.149-3T>C
|
rs1972381011
|
|
NM_004483.5(GCSH):c.151C>T (p.Arg51Cys)
|
rs1972380968
|
|
NM_004483.5(GCSH):c.17T>G (p.Val6Gly)
|
rs1567591606
|
|
NM_004483.5(GCSH):c.1A>T (p.Met1Leu)
|
rs886039730
|
|
NM_004483.5(GCSH):c.203C>T (p.Thr68Ile)
|
rs145768524
|
|
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)
|
rs1373562429
|
|
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly)
|
rs546860042
|
|
NM_004483.5(GCSH):c.246T>A (p.Val82=)
|
rs536733893
|
|
NM_004483.5(GCSH):c.254G>T (p.Cys85Phe)
|
rs1972310010
|
|
NM_004483.5(GCSH):c.259C>A (p.Leu87Ile)
|
rs2151769189
|
|
NM_004483.5(GCSH):c.28C>T (p.Arg10Trp)
|
rs1254680841
|
|
NM_004483.5(GCSH):c.292+10C>T
|
rs571999768
|
|
NM_004483.5(GCSH):c.292+7G>A
|
rs1972309218
|
|
NM_004483.5(GCSH):c.293-16dup
|
rs202181338
|
|
NM_004483.5(GCSH):c.293-4T>C
|
rs1555529308
|
|
NM_004483.5(GCSH):c.313A>G (p.Ser105Gly)
|
rs747131765
|
|
NM_004483.5(GCSH):c.318G>A (p.Val106=)
|
|
|
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
|
rs766468139
|
|
NM_004483.5(GCSH):c.31G>T (p.Ala11Ser)
|
rs766468139
|
|
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs)
|
rs1972233022
|
|
NM_004483.5(GCSH):c.375A>G (p.Glu125=)
|
rs868224309
|
|
NM_004483.5(GCSH):c.38T>C (p.Leu13Pro)
|
rs2151776055
|
|
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
|
rs749405278
|
|
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro)
|
rs944048995
|
|
NM_004483.5(GCSH):c.46C>T (p.Leu16=)
|
rs1231763519
|
|
NM_004483.5(GCSH):c.4G>C (p.Ala2Pro)
|
rs975360553
|
|
NM_004483.5(GCSH):c.502A>G (p.Ile168Val)
|
rs1972198288
|
|
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
|
rs1322444223
|
|
NM_032316.3(NICN1):c.*2359_*2468del
|
rs2049123051
|
|