NM_003640.5(ELP1):c.1361-140A>G
|
rs838823
|
0.92790
|
NM_003640.5(ELP1):c.2860+291T>A
|
rs947196
|
0.90227
|
NM_003640.5(ELP1):c.3572+199C>T
|
rs1416899
|
0.90058
|
NM_003640.5(ELP1):c.3856-82G>C
|
rs1981267
|
0.89958
|
NM_003640.5(ELP1):c.3856-81G>T
|
rs1981268
|
0.89954
|
NM_003640.5(ELP1):c.3700+236G>A
|
rs10435835
|
0.79781
|
NM_003640.5(ELP1):c.1361-23A>G
|
rs838824
|
0.70718
|
NM_003640.5(ELP1):c.2205-121C>T
|
rs4978760
|
0.64996
|
NM_003640.5(ELP1):c.3932-185G>A
|
rs3763644
|
0.62610
|
NM_003640.5(ELP1):c.1360+153C>G
|
rs838820
|
0.62240
|
NM_003640.5(ELP1):c.740+226A>G
|
rs1417713
|
0.57004
|
NM_003640.5(ELP1):c.958+56A>T
|
rs1772046
|
0.56907
|
NM_003640.5(ELP1):c.1855-160A>G
|
rs2275633
|
0.50329
|
NM_003640.5(ELP1):c.1854+283G>T
|
rs10759327
|
0.48270
|
NM_003640.5(ELP1):c.*1351C>A
|
rs4978371
|
0.41826
|
NM_003640.5(ELP1):c.3931+189G>A
|
rs2027434
|
0.41741
|
NM_003640.5(ELP1):c.3856-54C>A
|
rs2027433
|
0.41736
|
NM_003640.5(ELP1):c.2958+202T>C
|
rs10816762
|
0.41008
|
NM_003640.5(ELP1):c.3701-202G>A
|
rs10435834
|
0.40661
|
NM_003640.5(ELP1):c.3160+23T>C
|
rs3737309
|
0.40638
|
NM_003640.5(ELP1):c.-301C>G
|
rs2275641
|
0.35638
|
NM_003640.5(ELP1):c.3572+99G>A
|
rs2275496
|
0.34623
|
NM_003640.5(ELP1):c.2737-179C>T
|
rs11793522
|
0.34372
|
NM_003640.5(ELP1):c.2015-72C>T
|
rs1341217
|
0.27211
|
NM_003640.5(ELP1):c.2736+308A>G
|
rs4978758
|
0.27151
|
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu)
|
rs2230793
|
0.27106
|
NM_003640.5(ELP1):c.2736+304T>C
|
rs4978759
|
0.27049
|
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)
|
rs2230792
|
0.26279
|
NM_003640.5(ELP1):c.3701-166T>C
|
rs10435833
|
0.22096
|
NM_003640.5(ELP1):c.3701-124A>C
|
rs10435855
|
0.21962
|
NM_003640.5(ELP1):c.3346+110C>T
|
rs7873793
|
0.21922
|
NM_003640.5(ELP1):c.3856-221C>A
|
rs4978753
|
0.21898
|
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser)
|
rs3204145
|
0.21876
|
NM_003640.5(ELP1):c.3701-95C>G
|
rs3818875
|
0.21860
|
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu)
|
rs1538660
|
0.21853
|
NM_003640.5(ELP1):c.1855-217A>G
|
rs3818932
|
0.21752
|
NM_003640.5(ELP1):c.1460+72A>G
|
rs2304779
|
0.21723
|
NM_003640.5(ELP1):c.304-220C>T
|
rs113624314
|
0.21615
|
NM_003640.5(ELP1):c.-56+101G>C
|
rs2275637
|
0.21571
|
NM_003640.5(ELP1):c.2131-175C>T
|
rs1341215
|
0.20229
|
NM_003640.5(ELP1):c.1643+145G>A
|
rs4369056
|
0.19539
|
NM_003640.5(ELP1):c.3285+9C>T
|
rs2275495
|
0.18606
|
NM_003640.5(ELP1):c.3222+113A>G
|
rs3780509
|
0.18545
|
NM_003640.5(ELP1):c.3222+115A>G
|
rs3780508
|
0.18538
|
NM_003640.5(ELP1):c.2015-71G>A
|
rs1341216
|
0.17210
|
NM_003640.5(ELP1):c.553-235A>G
|
rs55905125
|
0.14860
|
NM_003640.5(ELP1):c.3347-90A>G
|
rs7874280
|
0.14534
|
NM_003640.5(ELP1):c.3285+162T>C
|
rs7046977
|
0.14522
|
NM_003640.5(ELP1):c.552+133A>G
|
rs3750457
|
0.13766
|
NM_003640.5(ELP1):c.552+42_552+43dup
|
rs3833703
|
0.13456
|
NM_003640.5(ELP1):c.1460+162T>G
|
rs838825
|
0.13426
|
NM_003640.5(ELP1):c.1750+124C>T
|
rs17792422
|
0.12773
|
NM_003640.5(ELP1):c.466+36G>A
|
rs2275635
|
0.12702
|
NM_003640.5(ELP1):c.741-15dup
|
rs398102543
|
0.11790
|
NM_003640.5(ELP1):c.1461-121T>C
|
rs3750461
|
0.11772
|
NM_003640.5(ELP1):c.1190-249C>T
|
rs2297580
|
0.11601
|
NM_003640.5(ELP1):c.959-118C>T
|
rs10979608
|
0.11499
|
NM_003640.5(ELP1):c.1855-139G>A
|
rs2275632
|
0.11396
|
NM_003640.5(ELP1):c.*1071G>A
|
rs41305457
|
0.11134
|
NM_003640.5(ELP1):c.2131-113T>G
|
rs55969525
|
0.10200
|
NM_003640.5(ELP1):c.1926G>A (p.Thr642=)
|
rs10979605
|
0.09707
|
NM_003640.5(ELP1):c.1965C>T (p.Thr655=)
|
rs2230791
|
0.09637
|
NM_003640.5(ELP1):c.2205-197C>T
|
rs76493188
|
0.08631
|
NM_003640.5(ELP1):c.2205-98C>G
|
rs12237534
|
0.08436
|
NM_003640.5(ELP1):c.2204+74A>G
|
rs56170160
|
0.08419
|
NM_003640.5(ELP1):c.1461-213T>C
|
rs3750460
|
0.08356
|
NM_003640.5(ELP1):c.441G>A (p.Gln147=)
|
rs2230788
|
0.07986
|
NM_003640.5(ELP1):c.1190-120A>G
|
rs11791215
|
0.07878
|
NM_003640.5(ELP1):c.-126T>G
|
rs2275640
|
0.07797
|
NM_003640.5(ELP1):c.2205-155A>G
|
rs12238625
|
0.07656
|
NM_003640.5(ELP1):c.1854+309G>A
|
rs55912317
|
0.07560
|
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln)
|
rs838827
|
0.07294
|
NM_003640.5(ELP1):c.*1260C>T
|
rs13299651
|
0.07241
|
NM_003640.5(ELP1):c.1750+115C>G
|
rs16913675
|
0.07241
|
NM_003640.5(ELP1):c.*1259C>G
|
rs13299652
|
0.07240
|
NM_003640.5(ELP1):c.2588-39A>C
|
rs10816764
|
0.07166
|
NM_003640.5(ELP1):c.1750+233C>G
|
rs147854908
|
0.06915
|
NM_003640.5(ELP1):c.545T>A (p.Met182Lys)
|
rs10521092
|
0.06528
|
NM_003640.5(ELP1):c.1360+130A>G
|
rs62575182
|
0.05237
|
NM_003640.5(ELP1):c.-71G>C
|
rs2275639
|
0.05104
|
NM_003640.5(ELP1):c.1360+293C>T
|
rs4978761
|
0.05103
|
NM_003640.5(ELP1):c.865-72A>G
|
rs3750458
|
0.05075
|
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met)
|
rs2230794
|
0.05069
|
NM_003640.5(ELP1):c.2588-120A>G
|
rs2275627
|
0.05068
|
NM_003640.5(ELP1):c.3347-181A>G
|
rs56255674
|
0.05022
|
NM_003640.5(ELP1):c.2015-231G>C
|
rs59112775
|
0.04991
|
NM_003640.5(ELP1):c.819C>T (p.Leu273=)
|
rs12340246
|
0.04943
|
NM_003640.5(ELP1):c.3347-257A>G
|
rs12342757
|
0.04703
|
NM_003640.5(ELP1):c.2015-328G>A
|
rs117660102
|
0.04270
|
NM_003640.5(ELP1):c.2283+26C>G
|
rs16913665
|
0.03332
|
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser)
|
rs2230795
|
0.03328
|
NM_003640.5(ELP1):c.*861T>G
|
rs74671462
|
0.03303
|
NM_003640.5(ELP1):c.3573-51G>A
|
rs115472775
|
0.03298
|
NM_003640.5(ELP1):c.385+170A>G
|
rs76264949
|
0.02963
|
NM_003640.5(ELP1):c.3223-72G>A
|
rs16913636
|
0.02772
|
NM_003640.5(ELP1):c.2130+133T>C
|
rs2275630
|
0.02307
|
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)
|
rs1140064
|
0.02197
|
NM_003640.5(ELP1):c.2130+141G>A
|
rs55780406
|
0.02141
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
NM_003640.5(ELP1):c.189C>T (p.Leu63=)
|
rs2230786
|
0.01873
|
NM_003640.5(ELP1):c.304-301C>T
|
rs151102621
|
0.01849
|
NM_003640.5(ELP1):c.2364-33G>A
|
rs77747745
|
0.01764
|
NM_003640.5(ELP1):c.*392A>G
|
rs10979577
|
0.01747
|
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)
|
rs17853166
|
0.01640
|
NM_003640.5(ELP1):c.1854+297A>G
|
rs117286243
|
0.01625
|
NM_003640.5(ELP1):c.3932-281C>G
|
rs118146489
|
0.01615
|
NM_003640.5(ELP1):c.2587+14C>T
|
rs141670242
|
0.01614
|
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)
|
rs2230798
|
0.01592
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=)
|
rs79596285
|
0.01448
|
NM_003640.5(ELP1):c.2861-295A>G
|
rs56143112
|
0.01318
|
NM_003640.5(ELP1):c.1644-203G>A
|
rs74699859
|
0.01037
|
NM_003640.5(ELP1):c.150+287T>G
|
rs1001374513
|
0.00950
|
NM_003640.5(ELP1):c.2363+70A>G
|
rs41313339
|
0.00891
|
NM_003640.5(ELP1):c.740+189A>T
|
rs73526118
|
0.00857
|
NM_003640.5(ELP1):c.864+251G>A
|
rs113508452
|
0.00851
|
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)
|
rs35054425
|
0.00792
|
NM_003640.5(ELP1):c.2631C>T (p.Ala877=)
|
rs138023874
|
0.00791
|
NM_003640.5(ELP1):c.959-44T>G
|
rs74919405
|
0.00789
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359
|
0.00732
|
NM_003640.5(ELP1):c.1854+41C>T
|
rs116141575
|
0.00603
|
NM_003640.5(ELP1):c.*1214C>T
|
rs143906434
|
0.00555
|
NM_003640.5(ELP1):c.1644-155A>G
|
rs565146732
|
0.00530
|
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val)
|
rs35455790
|
0.00524
|
NM_003640.5(ELP1):c.3931+151A>T
|
rs143673059
|
0.00519
|
NM_003640.5(ELP1):c.3461-163G>A
|
rs142241038
|
0.00515
|
NM_003640.5(ELP1):c.1855-38A>G
|
rs114088295
|
0.00508
|
NM_003640.5(ELP1):c.552+215G>A
|
rs142701683
|
0.00477
|
NM_003640.5(ELP1):c.3160+47A>T
|
rs143250122
|
0.00457
|
NM_003640.5(ELP1):c.3931+39A>G
|
rs149721955
|
0.00408
|
NM_003640.5(ELP1):c.2588-143A>T
|
rs73512446
|
0.00374
|
NM_003640.5(ELP1):c.*902C>T
|
rs139728295
|
0.00347
|
NM_003640.5(ELP1):c.1189+211A>G
|
rs530222422
|
0.00337
|
NM_003640.5(ELP1):c.1750+154A>G
|
rs55778443
|
0.00323
|
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)
|
rs35942802
|
0.00277
|
NM_003640.5(ELP1):c.467-38C>A
|
rs147310486
|
0.00239
|
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)
|
rs78135392
|
0.00236
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
NM_003640.5(ELP1):c.1143G>A (p.Val381=)
|
rs35936107
|
0.00210
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_003640.5(ELP1):c.*1247T>C
|
rs76994656
|
0.00100
|
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)
|
rs146440397
|
0.00098
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093
|
0.00084
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_003640.5(ELP1):c.*1494A>G
|
rs543323193
|
0.00073
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_003640.5(ELP1):c.*1489G>A
|
rs78224677
|
0.00061
|
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)
|
rs140024352
|
0.00058
|
NM_003640.5(ELP1):c.-22G>T
|
rs150608921
|
0.00051
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
NM_003640.5(ELP1):c.1460+16T>A
|
rs146162690
|
0.00044
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
NM_003640.5(ELP1):c.*579A>G
|
rs772683091
|
0.00041
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
NM_003640.5(ELP1):c.*502C>T
|
rs56305287
|
0.00039
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037
|
0.00038
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285
|
0.00038
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847
|
0.00036
|
NM_003640.5(ELP1):c.959-10T>C
|
rs144059169
|
0.00035
|
NM_003640.5(ELP1):c.-242T>G
|
rs765585828
|
0.00032
|
NM_003640.5(ELP1):c.2284-18T>C
|
rs768635920
|
0.00032
|
NM_003640.5(ELP1):c.*1412T>A
|
rs117081559
|
0.00029
|
NM_017832.2(ABITRAM):c.-149G>A
|
rs1050167142
|
0.00027
|
NM_003640.5(ELP1):c.3855+19G>A
|
rs113767921
|
0.00026
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504
|
0.00025
|
NM_003640.5(ELP1):c.650-7C>T
|
rs368410371
|
0.00022
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
NM_003640.5(ELP1):c.2958+29C>T
|
rs141550637
|
0.00021
|
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)
|
rs146956297
|
0.00021
|
NM_003640.5(ELP1):c.2025C>T (p.Ala675=)
|
rs200532312
|
0.00020
|
NM_003640.5(ELP1):c.1075C>T (p.Leu359=)
|
rs2230789
|
0.00018
|
NM_003640.5(ELP1):c.2916C>T (p.Asn972=)
|
rs752886385
|
0.00018
|
NM_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
NM_003640.5(ELP1):c.1830C>T (p.Thr610=)
|
rs113048987
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
NM_003640.5(ELP1):c.348T>C (p.Ser116=)
|
rs2230787
|
0.00014
|
NM_003640.5(ELP1):c.-64G>A
|
rs575166769
|
0.00013
|
NM_003640.5(ELP1):c.3222+14C>T
|
rs374787755
|
0.00013
|
NM_003640.5(ELP1):c.*1277T>G
|
rs537888003
|
0.00012
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
NM_003640.5(ELP1):c.*1281T>C
|
rs189897190
|
0.00011
|
NM_003640.5(ELP1):c.*569T>C
|
rs928660237
|
0.00011
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003640.5(ELP1):c.2577C>T (p.His859=)
|
rs768252666
|
0.00011
|
NM_003640.5(ELP1):c.3573-7C>G
|
rs370571926
|
0.00011
|
NM_003640.5(ELP1):c.3460+13G>A
|
rs149897637
|
0.00010
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
NM_003640.5(ELP1):c.3708A>G (p.Val1236=)
|
rs368761085
|
0.00010
|
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=)
|
rs149038322
|
0.00010
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00010
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768
|
0.00010
|
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)
|
rs748458910
|
0.00009
|
NM_003640.5(ELP1):c.1644-13T>C
|
rs557540663
|
0.00009
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
0.00009
|
NM_003640.5(ELP1):c.1093G>T (p.Gly365Cys)
|
rs367921553
|
0.00008
|
NM_003640.5(ELP1):c.304-7G>A
|
rs374063549
|
0.00008
|
NM_003640.5(ELP1):c.3346+7G>T
|
rs144631706
|
0.00008
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
NM_003640.5(ELP1):c.*1240T>C
|
rs1040975275
|
0.00007
|
NM_003640.5(ELP1):c.150+16A>G
|
rs148164198
|
0.00007
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs137983175
|
0.00007
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
NM_003640.5(ELP1):c.3219C>A (p.Ala1073=)
|
rs371960059
|
0.00007
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
NM_003640.5(ELP1):c.3600G>A (p.Ala1200=)
|
rs769196025
|
0.00007
|
NM_003640.5(ELP1):c.-31G>C
|
rs375962780
|
0.00006
|
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg)
|
rs776167946
|
0.00006
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
NM_003640.5(ELP1):c.1665G>A (p.Gly555=)
|
rs558485897
|
0.00006
|
NM_003640.5(ELP1):c.1854+18A>G
|
rs779969470
|
0.00006
|
NM_003640.5(ELP1):c.1914G>A (p.Ala638=)
|
rs142096497
|
0.00006
|
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
|
rs201596987
|
0.00006
|
NM_003640.5(ELP1):c.2588-6T>G
|
rs1350078150
|
0.00006
|
NM_003640.5(ELP1):c.2982G>A (p.Glu994=)
|
rs147870527
|
0.00006
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met)
|
rs199723919
|
0.00006
|
NM_003640.5(ELP1):c.740+10A>G
|
rs1346624747
|
0.00006
|
NM_003640.5(ELP1):c.1112A>G (p.Tyr371Cys)
|
rs747603780
|
0.00005
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
0.00005
|
NM_003640.5(ELP1):c.3223-16C>G
|
rs372907186
|
0.00005
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
NM_003640.5(ELP1):c.649+12T>C
|
rs375554772
|
0.00005
|
NM_003640.5(ELP1):c.*1291A>G
|
rs971258024
|
0.00004
|
NM_003640.5(ELP1):c.1444T>C (p.Leu482=)
|
rs753849574
|
0.00004
|
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly)
|
rs755282356
|
0.00004
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu)
|
rs143494120
|
0.00004
|
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln)
|
rs749959888
|
0.00004
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
NM_003640.5(ELP1):c.1860T>C (p.Cys620=)
|
rs769936175
|
0.00004
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
NM_003640.5(ELP1):c.1954T>C (p.Leu652=)
|
rs757287712
|
0.00004
|
NM_003640.5(ELP1):c.1973A>G (p.His658Arg)
|
rs372151936
|
0.00004
|
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)
|
rs537930129
|
0.00004
|
NM_003640.5(ELP1):c.2205-9T>G
|
rs762448047
|
0.00004
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
NM_003640.5(ELP1):c.246T>C (p.Ser82=)
|
rs1356191121
|
0.00004
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
NM_003640.5(ELP1):c.304-5C>T
|
rs370384351
|
0.00004
|
NM_003640.5(ELP1):c.3045C>T (p.His1015=)
|
rs772697433
|
0.00004
|
NM_003640.5(ELP1):c.3060A>G (p.Ser1020=)
|
rs1342216283
|
0.00004
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)
|
rs148548795
|
0.00004
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
NM_003640.5(ELP1):c.3461-8T>C
|
rs778083125
|
0.00004
|
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=)
|
rs781284578
|
0.00004
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003640.5(ELP1):c.3639G>A (p.Leu1213=)
|
rs377677858
|
0.00004
|
NM_003640.5(ELP1):c.3932-18T>G
|
rs767184876
|
0.00004
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
NM_003640.5(ELP1):c.483T>C (p.Val161=)
|
rs537635969
|
0.00004
|
NM_003640.5(ELP1):c.606G>T (p.Gly202=)
|
rs768309637
|
0.00004
|
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp)
|
rs374238430
|
0.00004
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
NM_003640.5(ELP1):c.958+20C>T
|
rs370413742
|
0.00004
|
NM_003640.4(ELP1):c.-403C>T
|
rs886063352
|
0.00003
|
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg)
|
rs56053149
|
0.00003
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
NM_003640.5(ELP1):c.1335T>C (p.Ser445=)
|
rs777207577
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
NM_003640.5(ELP1):c.1834T>C (p.Leu612=)
|
rs768084021
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_003640.5(ELP1):c.2082T>A (p.Gly694=)
|
rs760054484
|
0.00003
|
NM_003640.5(ELP1):c.2097T>C (p.Thr699=)
|
rs144352068
|
0.00003
|
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu)
|
rs757701039
|
0.00003
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
NM_003640.5(ELP1):c.2545C>G (p.Pro849Ala)
|
rs34550675
|
0.00003
|
NM_003640.5(ELP1):c.270A>T (p.Gly90=)
|
rs200640674
|
0.00003
|
NM_003640.5(ELP1):c.2748A>G (p.Glu916=)
|
rs200551647
|
0.00003
|
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser)
|
rs1378971881
|
0.00003
|
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00003
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
NM_003640.5(ELP1):c.3285+6A>T
|
rs1465325866
|
0.00003
|
NM_003640.5(ELP1):c.3309T>C (p.Asp1103=)
|
rs1140075
|
0.00003
|
NM_003640.5(ELP1):c.3346+6G>C
|
rs774179813
|
0.00003
|
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys)
|
rs372499865
|
0.00003
|
NM_003640.5(ELP1):c.3460+12C>T
|
rs576315331
|
0.00003
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg)
|
rs201888676
|
0.00003
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
NM_003640.5(ELP1):c.423G>A (p.Glu141=)
|
rs567960748
|
0.00003
|
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg)
|
rs557686367
|
0.00003
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
NM_003640.5(ELP1):c.579C>T (p.Asp193=)
|
rs766231058
|
0.00003
|
NM_003640.5(ELP1):c.741-8G>A
|
rs962023744
|
0.00003
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00003
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00003
|
NM_003640.5(ELP1):c.858G>A (p.Glu286=)
|
rs147517999
|
0.00003
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
NM_003640.4(ELP1):c.-323C>T
|
rs901684930
|
0.00002
|
NM_003640.4(ELP1):c.-343T>G
|
rs568907421
|
0.00002
|
NM_003640.5(ELP1):c.*1062G>T
|
rs559551917
|
0.00002
|
NM_003640.5(ELP1):c.*1352A>G
|
rs886063344
|
0.00002
|
NM_003640.5(ELP1):c.*1566A>G
|
rs1007495788
|
0.00002
|
NM_003640.5(ELP1):c.-115A>T
|
rs932890007
|
0.00002
|
NM_003640.5(ELP1):c.-45T>C
|
rs371791247
|
0.00002
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
NM_003640.5(ELP1):c.1408G>A (p.Gly470Arg)
|
rs765727987
|
0.00002
|
NM_003640.5(ELP1):c.1437T>G (p.Thr479=)
|
rs1341178262
|
0.00002
|
NM_003640.5(ELP1):c.1466A>C (p.Gln489Pro)
|
rs140229715
|
0.00002
|
NM_003640.5(ELP1):c.1470T>C (p.Phe490=)
|
rs768311202
|
0.00002
|
NM_003640.5(ELP1):c.1491T>C (p.Asp497=)
|
rs775020540
|
0.00002
|
NM_003640.5(ELP1):c.150+3A>G
|
rs760208051
|
0.00002
|
NM_003640.5(ELP1):c.1511G>A (p.Gly504Asp)
|
rs778215292
|
0.00002
|
NM_003640.5(ELP1):c.1593G>A (p.Leu531=)
|
rs773965613
|
0.00002
|
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)
|
rs369856286
|
0.00002
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
NM_003640.5(ELP1):c.1839C>T (p.Ala613=)
|
rs774365133
|
0.00002
|
NM_003640.5(ELP1):c.1854+13G>A
|
rs138183089
|
0.00002
|
NM_003640.5(ELP1):c.195G>A (p.Glu65=)
|
rs751267638
|
0.00002
|
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp)
|
rs771647322
|
0.00002
|
NM_003640.5(ELP1):c.20T>G (p.Phe7Cys)
|
rs1379847365
|
0.00002
|
NM_003640.5(ELP1):c.2172G>C (p.Leu724=)
|
rs202166505
|
0.00002
|
NM_003640.5(ELP1):c.2210T>C (p.Met737Thr)
|
rs747028759
|
0.00002
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
NM_003640.5(ELP1):c.231G>C (p.Leu77Phe)
|
rs1241114854
|
0.00002
|
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys)
|
rs1181862976
|
0.00002
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
NM_003640.5(ELP1):c.2585A>G (p.Gln862Arg)
|
rs563636288
|
0.00002
|
NM_003640.5(ELP1):c.2587+10C>T
|
rs771045250
|
0.00002
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
NM_003640.5(ELP1):c.2807T>C (p.Ile936Thr)
|
rs199617267
|
0.00002
|
NM_003640.5(ELP1):c.2880A>G (p.Glu960=)
|
rs779444024
|
0.00002
|
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)
|
rs749200669
|
0.00002
|
NM_003640.5(ELP1):c.2958+10A>T
|
rs768709875
|
0.00002
|
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=)
|
rs781623768
|
0.00002
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
NM_003640.5(ELP1):c.3036C>T (p.Cys1012=)
|
rs528740327
|
0.00002
|
NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys)
|
rs868601119
|
0.00002
|
NM_003640.5(ELP1):c.3072A>G (p.Thr1024=)
|
rs758372070
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003640.5(ELP1):c.3160+27A>G
|
rs1341213
|
0.00002
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
NM_003640.5(ELP1):c.3222+4A>T
|
rs367771963
|
0.00002
|
NM_003640.5(ELP1):c.3270A>G (p.Glu1090=)
|
rs1487288025
|
0.00002
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
NM_003640.5(ELP1):c.3816A>G (p.Glu1272=)
|
rs145380688
|
0.00002
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala)
|
rs774585995
|
0.00002
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
NM_003640.5(ELP1):c.553-8C>G
|
rs530487391
|
0.00002
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
NM_003640.5(ELP1):c.*1054T>C
|
rs577931217
|
0.00001
|
NM_003640.5(ELP1):c.*1194C>T
|
rs1827297908
|
0.00001
|
NM_003640.5(ELP1):c.*1511T>C
|
rs758269307
|
0.00001
|
NM_003640.5(ELP1):c.-156G>A
|
rs886063350
|
0.00001
|
NM_003640.5(ELP1):c.-183C>T
|
rs1437319593
|
0.00001
|
NM_003640.5(ELP1):c.102C>T (p.Leu34=)
|
rs1381472784
|
0.00001
|
NM_003640.5(ELP1):c.1031G>A (p.Ser344Asn)
|
rs374294411
|
0.00001
|
NM_003640.5(ELP1):c.1047G>C (p.Leu349=)
|
rs781560088
|
0.00001
|
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile)
|
rs918763626
|
0.00001
|
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
|
rs187183483
|
0.00001
|
NM_003640.5(ELP1):c.1065C>T (p.Thr355=)
|
rs1230924720
|
0.00001
|
NM_003640.5(ELP1):c.1072C>T (p.Arg358Trp)
|
rs750718439
|
0.00001
|
NM_003640.5(ELP1):c.1080T>C (p.His360=)
|
rs1214789434
|
0.00001
|
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)
|
rs774132326
|
0.00001
|
NM_003640.5(ELP1):c.1107C>T (p.Leu369=)
|
rs1259460083
|
0.00001
|
NM_003640.5(ELP1):c.1116T>C (p.Asp372=)
|
rs144878787
|
0.00001
|
NM_003640.5(ELP1):c.111A>G (p.Ser37=)
|
rs750185740
|
0.00001
|
NM_003640.5(ELP1):c.1128G>A (p.Thr376=)
|
rs781087704
|
0.00001
|
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser)
|
rs1273486554
|
0.00001
|
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser)
|
rs771123534
|
0.00001
|
NM_003640.5(ELP1):c.1176T>C (p.Ala392=)
|
rs753979416
|
0.00001
|
NM_003640.5(ELP1):c.1180A>G (p.Ile394Val)
|
rs1372225878
|
0.00001
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
0.00001
|
NM_003640.5(ELP1):c.1190-5T>A
|
rs1348750667
|
0.00001
|
NM_003640.5(ELP1):c.1190-6C>G
|
rs1340978905
|
0.00001
|
NM_003640.5(ELP1):c.1191C>G (p.Asn397Lys)
|
rs749277039
|
0.00001
|
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln)
|
rs369242781
|
0.00001
|
NM_003640.5(ELP1):c.1224G>A (p.Val408=)
|
rs151157900
|
0.00001
|
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu)
|
rs375957332
|
0.00001
|
NM_003640.5(ELP1):c.1244C>T (p.Thr415Ile)
|
rs756192004
|
0.00001
|
NM_003640.5(ELP1):c.1251A>G (p.Gln417=)
|
rs763812233
|
0.00001
|
NM_003640.5(ELP1):c.1255C>T (p.Leu419=)
|
rs755790483
|
0.00001
|
NM_003640.5(ELP1):c.1260C>T (p.Phe420=)
|
rs752386597
|
0.00001
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
NM_003640.5(ELP1):c.1284A>T (p.Thr428=)
|
rs946387194
|
0.00001
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
NM_003640.5(ELP1):c.1305G>A (p.Lys435=)
|
rs769900761
|
0.00001
|
NM_003640.5(ELP1):c.1320T>A (p.Ala440=)
|
rs745616203
|
0.00001
|
NM_003640.5(ELP1):c.1321G>A (p.Val441Ile)
|
rs778927429
|
0.00001
|
NM_003640.5(ELP1):c.1323T>C (p.Val441=)
|
rs200925118
|
0.00001
|
NM_003640.5(ELP1):c.1346C>T (p.Ser449Phe)
|
rs755630402
|
0.00001
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
NM_003640.5(ELP1):c.1385C>G (p.Thr462Arg)
|
rs754743691
|
0.00001
|
NM_003640.5(ELP1):c.1386A>G (p.Thr462=)
|
rs1829093869
|
0.00001
|
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys)
|
rs764155403
|
0.00001
|
NM_003640.5(ELP1):c.1461-1G>A
|
rs539544212
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003640.5(ELP1):c.1497C>T (p.Asn499=)
|
rs1410534323
|
0.00001
|
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu)
|
rs779307491
|
0.00001
|
NM_003640.5(ELP1):c.150+8dup
|
rs771847077
|
0.00001
|
NM_003640.5(ELP1):c.151-10T>C
|
rs768610434
|
0.00001
|
NM_003640.5(ELP1):c.151-16T>A
|
rs374246294
|
0.00001
|
NM_003640.5(ELP1):c.1542C>T (p.Phe514=)
|
rs267602078
|
0.00001
|
NM_003640.5(ELP1):c.1543C>T (p.Leu515=)
|
rs1193566565
|
0.00001
|
NM_003640.5(ELP1):c.1549G>A (p.Val517Ile)
|
rs1451126639
|
0.00001
|
NM_003640.5(ELP1):c.1555C>T (p.His519Tyr)
|
rs776729454
|
0.00001
|
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
|
rs766737737
|
0.00001
|
NM_003640.5(ELP1):c.1584T>G (p.Ile528Met)
|
rs745586570
|
0.00001
|
NM_003640.5(ELP1):c.1647A>T (p.Ser549=)
|
rs758761513
|
0.00001
|
NM_003640.5(ELP1):c.1656G>A (p.Ala552=)
|
rs200535861
|
0.00001
|
NM_003640.5(ELP1):c.177A>G (p.Ala59=)
|
rs1298186722
|
0.00001
|
NM_003640.5(ELP1):c.1786T>C (p.Ser596Pro)
|
rs749510215
|
0.00001
|
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)
|
rs886063347
|
0.00001
|
NM_003640.5(ELP1):c.180A>G (p.Glu60=)
|
rs1326806855
|
0.00001
|
NM_003640.5(ELP1):c.1819T>C (p.Cys607Arg)
|
rs1428249476
|
0.00001
|
NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys)
|
rs1198964450
|
0.00001
|
NM_003640.5(ELP1):c.1833A>G (p.Glu611=)
|
rs1587898434
|
0.00001
|
NM_003640.5(ELP1):c.1854+3A>G
|
rs773379221
|
0.00001
|
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser)
|
rs370377909
|
0.00001
|
NM_003640.5(ELP1):c.186T>C (p.Phe62=)
|
rs752573144
|
0.00001
|
NM_003640.5(ELP1):c.1876G>A (p.Asp626Asn)
|
rs202085601
|
0.00001
|
NM_003640.5(ELP1):c.1909-12C>T
|
rs963492786
|
0.00001
|
NM_003640.5(ELP1):c.1909-17C>G
|
rs373498962
|
0.00001
|
NM_003640.5(ELP1):c.1938A>G (p.Val646=)
|
rs750906847
|
0.00001
|
NM_003640.5(ELP1):c.1947G>A (p.Glu649=)
|
rs1564088262
|
0.00001
|
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
|
rs764320309
|
0.00001
|
NM_003640.5(ELP1):c.1974T>C (p.His658=)
|
rs1308350085
|
0.00001
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
NM_003640.5(ELP1):c.2014+18A>G
|
rs1828800296
|
0.00001
|
NM_003640.5(ELP1):c.2015-20T>C
|
rs760415006
|
0.00001
|
NM_003640.5(ELP1):c.2031G>C (p.Leu677=)
|
rs1315300646
|
0.00001
|
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
|
rs756120509
|
0.00001
|
NM_003640.5(ELP1):c.2043T>C (p.His681=)
|
rs147944437
|
0.00001
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
NM_003640.5(ELP1):c.2131-8T>G
|
rs1220473264
|
0.00001
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
NM_003640.5(ELP1):c.2135C>T (p.Pro712Leu)
|
rs752272003
|
0.00001
|
NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe)
|
rs1828702034
|
0.00001
|
NM_003640.5(ELP1):c.2169C>T (p.Ala723=)
|
rs1221473738
|
0.00001
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
NM_003640.5(ELP1):c.2193G>A (p.Lys731=)
|
rs1828700001
|
0.00001
|
NM_003640.5(ELP1):c.2205-5C>T
|
rs990520942
|
0.00001
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
NM_003640.5(ELP1):c.2274T>C (p.His758=)
|
rs751132422
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
NM_003640.5(ELP1):c.2346G>T (p.Leu782Phe)
|
rs1182966138
|
0.00001
|
NM_003640.5(ELP1):c.2364-12A>C
|
rs1828595619
|
0.00001
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554
|
0.00001
|
NM_003640.5(ELP1):c.2373T>C (p.Asp791=)
|
rs1477728054
|
0.00001
|
NM_003640.5(ELP1):c.2394T>C (p.Pro798=)
|
rs138819925
|
0.00001
|
NM_003640.5(ELP1):c.2439G>T (p.Gly813=)
|
rs1828590245
|
0.00001
|
NM_003640.5(ELP1):c.2454T>C (p.Leu818=)
|
rs893395625
|
0.00001
|
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)
|
rs181121832
|
0.00001
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu)
|
rs1307998361
|
0.00001
|
NM_003640.5(ELP1):c.2501+8T>C
|
rs189797561
|
0.00001
|
NM_003640.5(ELP1):c.2501A>G (p.Lys834Arg)
|
rs764026138
|
0.00001
|
NM_003640.5(ELP1):c.2502-13C>T
|
rs138510668
|
0.00001
|
NM_003640.5(ELP1):c.2502-18C>T
|
rs776675315
|
0.00001
|
NM_003640.5(ELP1):c.2502-7A>G
|
rs372939186
|
0.00001
|
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val)
|
rs779097269
|
0.00001
|
NM_003640.5(ELP1):c.2529T>C (p.His843=)
|
rs757233952
|
0.00001
|
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)
|
rs764837607
|
0.00001
|
NM_003640.5(ELP1):c.2588-13T>C
|
rs771396300
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)
|
rs146958186
|
0.00001
|
NM_003640.5(ELP1):c.2675A>G (p.Asp892Gly)
|
rs1423041055
|
0.00001
|
NM_003640.5(ELP1):c.2686G>A (p.Gly896Ser)
|
rs200590656
|
0.00001
|
NM_003640.5(ELP1):c.2693A>G (p.Tyr898Cys)
|
rs199679232
|
0.00001
|
NM_003640.5(ELP1):c.2707G>A (p.Val903Ile)
|
rs1828552741
|
0.00001
|
NM_003640.5(ELP1):c.2730A>G (p.Ser910=)
|
rs1183324668
|
0.00001
|
NM_003640.5(ELP1):c.2736+16A>T
|
rs200522819
|
0.00001
|
NM_003640.5(ELP1):c.273C>T (p.Asp91=)
|
rs772231917
|
0.00001
|
NM_003640.5(ELP1):c.2742C>T (p.Pro914=)
|
rs1241171896
|
0.00001
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
NM_003640.5(ELP1):c.2757A>G (p.Pro919=)
|
rs752259389
|
0.00001
|
NM_003640.5(ELP1):c.2772T>G (p.Leu924=)
|
rs754622407
|
0.00001
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003640.5(ELP1):c.2847C>T (p.His949=)
|
rs529456133
|
0.00001
|
NM_003640.5(ELP1):c.2860+2T>C
|
rs754348901
|
0.00001
|
NM_003640.5(ELP1):c.2861-6C>T
|
rs779426934
|
0.00001
|
NM_003640.5(ELP1):c.2871C>T (p.Tyr957=)
|
rs745494653
|
0.00001
|
NM_003640.5(ELP1):c.2910G>T (p.Leu970Phe)
|
rs146198104
|
0.00001
|
NM_003640.5(ELP1):c.291C>A (p.Leu97=)
|
rs1829937643
|
0.00001
|
NM_003640.5(ELP1):c.2922T>A (p.Ala974=)
|
rs1828403034
|
0.00001
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg)
|
rs371186754
|
0.00001
|
NM_003640.5(ELP1):c.2958+1G>A
|
rs1239081703
|
0.00001
|
NM_003640.5(ELP1):c.2959-8T>C
|
rs763776119
|
0.00001
|
NM_003640.5(ELP1):c.2959-9T>C
|
rs1395219994
|
0.00001
|
NM_003640.5(ELP1):c.3012A>G (p.Pro1004=)
|
rs770000077
|
0.00001
|
NM_003640.5(ELP1):c.303+11G>A
|
rs549703822
|
0.00001
|
NM_003640.5(ELP1):c.303+3A>G
|
rs766433871
|
0.00001
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
NM_003640.5(ELP1):c.304-10T>A
|
rs1417685633
|
0.00001
|
NM_003640.5(ELP1):c.304-18C>T
|
rs147293637
|
0.00001
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
NM_003640.5(ELP1):c.3043C>T (p.His1015Tyr)
|
rs762687399
|
0.00001
|
NM_003640.5(ELP1):c.3063C>T (p.Ala1021=)
|
rs1267849190
|
0.00001
|
NM_003640.5(ELP1):c.3066T>A (p.Phe1022Leu)
|
rs372822046
|
0.00001
|
NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp)
|
rs778943416
|
0.00001
|
NM_003640.5(ELP1):c.3094C>T (p.Leu1032Phe)
|
rs774427341
|
0.00001
|
NM_003640.5(ELP1):c.3129C>T (p.Asp1043=)
|
rs772768117
|
0.00001
|
NM_003640.5(ELP1):c.3132G>A (p.Gln1044=)
|
rs1174806746
|
0.00001
|
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)
|
rs764867856
|
0.00001
|
NM_003640.5(ELP1):c.3152C>T (p.Thr1051Ile)
|
rs747546817
|
0.00001
|
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=)
|
rs1315617472
|
0.00001
|
NM_003640.5(ELP1):c.3161-2A>G
|
rs749548287
|
0.00001
|
NM_003640.5(ELP1):c.3169G>A (p.Val1057Ile)
|
rs1370476500
|
0.00001
|
NM_003640.5(ELP1):c.3183G>A (p.Lys1061=)
|
rs544766218
|
0.00001
|
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
NM_003640.5(ELP1):c.3208G>A (p.Glu1070Lys)
|
rs778318147
|
0.00001
|
NM_003640.5(ELP1):c.3222+10A>G
|
rs770916141
|
0.00001
|
NM_003640.5(ELP1):c.3222+8C>G
|
rs1159708225
|
0.00001
|
NM_003640.5(ELP1):c.3223-10C>G
|
rs753410907
|
0.00001
|
NM_003640.5(ELP1):c.3223-9C>T
|
rs777231662
|
0.00001
|
NM_003640.5(ELP1):c.322G>A (p.Val108Ile)
|
rs192047457
|
0.00001
|
NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val)
|
rs752344797
|
0.00001
|
NM_003640.5(ELP1):c.3249G>C (p.Leu1083=)
|
rs759873552
|
0.00001
|
NM_003640.5(ELP1):c.3321C>T (p.Thr1107=)
|
rs1440207150
|
0.00001
|
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
|
rs761896714
|
0.00001
|
NM_003640.5(ELP1):c.334A>G (p.Ile112Val)
|
rs1451932418
|
0.00001
|
NM_003640.5(ELP1):c.3354A>G (p.Lys1118=)
|
rs1210871913
|
0.00001
|
NM_003640.5(ELP1):c.3378T>C (p.Ser1126=)
|
rs764056417
|
0.00001
|
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His)
|
rs143580972
|
0.00001
|
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys)
|
rs377679012
|
0.00001
|
NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter)
|
rs768015419
|
0.00001
|
NM_003640.5(ELP1):c.3425G>A (p.Arg1142Gln)
|
rs746668947
|
0.00001
|
NM_003640.5(ELP1):c.3461-9C>G
|
rs995554626
|
0.00001
|
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
|
rs1032686725
|
0.00001
|
NM_003640.5(ELP1):c.3489A>C (p.Ser1163=)
|
rs765087809
|
0.00001
|
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)
|
rs199617076
|
0.00001
|
NM_003640.5(ELP1):c.3516C>T (p.Val1172=)
|
rs371811911
|
0.00001
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995
|
0.00001
|
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His)
|
rs886063345
|
0.00001
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=)
|
rs780520998
|
0.00001
|
NM_003640.5(ELP1):c.3680A>G (p.Gln1227Arg)
|
rs1272852371
|
0.00001
|
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln)
|
rs764936574
|
0.00001
|
NM_003640.5(ELP1):c.3700+6T>G
|
rs761423880
|
0.00001
|
NM_003640.5(ELP1):c.3701-10T>G
|
rs1827773831
|
0.00001
|
NM_003640.5(ELP1):c.3714T>C (p.His1238=)
|
rs749975442
|
0.00001
|
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val)
|
rs756928248
|
0.00001
|
NM_003640.5(ELP1):c.3783T>C (p.Asp1261=)
|
rs1473679154
|
0.00001
|
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)
|
rs200634033
|
0.00001
|
NM_003640.5(ELP1):c.3786G>A (p.Thr1262=)
|
rs775118324
|
0.00001
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
NM_003640.5(ELP1):c.3829A>T (p.Thr1277Ser)
|
rs753141812
|
0.00001
|
NM_003640.5(ELP1):c.385+7T>C
|
rs747004579
|
0.00001
|
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
|
rs199813856
|
0.00001
|
NM_003640.5(ELP1):c.3855+18C>T
|
rs557015443
|
0.00001
|
NM_003640.5(ELP1):c.3855G>A (p.Pro1285=)
|
rs901285079
|
0.00001
|
NM_003640.5(ELP1):c.3856-6C>T
|
rs1159420429
|
0.00001
|
NM_003640.5(ELP1):c.3859C>T (p.Leu1287=)
|
rs1191442185
|
0.00001
|
NM_003640.5(ELP1):c.3883A>G (p.Ser1295Gly)
|
rs989681376
|
0.00001
|
NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val)
|
rs762773957
|
0.00001
|
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=)
|
rs772800681
|
0.00001
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
NM_003640.5(ELP1):c.3918G>A (p.Ser1306=)
|
rs146862778
|
0.00001
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875
|
0.00001
|
NM_003640.5(ELP1):c.3931+8T>C
|
rs1419758592
|
0.00001
|
NM_003640.5(ELP1):c.3952C>A (p.Pro1318Thr)
|
rs757781758
|
0.00001
|
NM_003640.5(ELP1):c.3961A>T (p.Asn1321Tyr)
|
rs367795801
|
0.00001
|
NM_003640.5(ELP1):c.3987C>T (p.Ser1329=)
|
rs144816863
|
0.00001
|
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser)
|
rs370034421
|
0.00001
|
NM_003640.5(ELP1):c.427A>G (p.Ile143Val)
|
rs571422569
|
0.00001
|
NM_003640.5(ELP1):c.43A>G (p.Ile15Val)
|
rs1250977761
|
0.00001
|
NM_003640.5(ELP1):c.466+7A>G
|
rs1242699541
|
0.00001
|
NM_003640.5(ELP1):c.49G>A (p.Gly17Ser)
|
rs1829991757
|
0.00001
|
NM_003640.5(ELP1):c.552+12T>C
|
rs762061745
|
0.00001
|
NM_003640.5(ELP1):c.552+1G>T
|
rs765572951
|
0.00001
|
NM_003640.5(ELP1):c.593T>C (p.Val198Ala)
|
rs948923581
|
0.00001
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
NM_003640.5(ELP1):c.624T>C (p.Ala208=)
|
rs772320418
|
0.00001
|
NM_003640.5(ELP1):c.656G>A (p.Arg219Gln)
|
rs749382362
|
0.00001
|
NM_003640.5(ELP1):c.663C>T (p.Val221=)
|
rs1453507748
|
0.00001
|
NM_003640.5(ELP1):c.667G>T (p.Val223Leu)
|
rs769746039
|
0.00001
|
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
|
rs1274927283
|
0.00001
|
NM_003640.5(ELP1):c.706C>A (p.Pro236Thr)
|
rs1231418805
|
0.00001
|
NM_003640.5(ELP1):c.707_711dup (p.Ala238fs)
|
rs1390547777
|
0.00001
|
NM_003640.5(ELP1):c.717A>C (p.Gly239=)
|
rs1333495798
|
0.00001
|
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)
|
rs1317221906
|
0.00001
|
NM_003640.5(ELP1):c.740+5G>C
|
rs200291810
|
0.00001
|
NM_003640.5(ELP1):c.743C>T (p.Pro248Leu)
|
rs1394468770
|
0.00001
|
NM_003640.5(ELP1):c.744C>G (p.Pro248=)
|
rs777540385
|
0.00001
|
NM_003640.5(ELP1):c.768A>G (p.Thr256=)
|
rs985459923
|
0.00001
|
NM_003640.5(ELP1):c.773A>G (p.Asp258Gly)
|
rs1206581781
|
0.00001
|
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
|
rs371587578
|
0.00001
|
NM_003640.5(ELP1):c.813T>C (p.Asn271=)
|
rs1829489780
|
0.00001
|
NM_003640.5(ELP1):c.843C>T (p.Pro281=)
|
rs1377438174
|
0.00001
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
NM_003640.5(ELP1):c.924T>C (p.Leu308=)
|
rs776506989
|
0.00001
|
NM_003640.5(ELP1):c.93G>T (p.Gly31=)
|
rs778404648
|
0.00001
|
NM_003640.5(ELP1):c.958+11T>G
|
rs201309418
|
0.00001
|
NM_003640.5(ELP1):c.958+7C>T
|
rs771601576
|
0.00001
|
NM_003640.5(ELP1):c.958+8A>T
|
rs745559487
|
0.00001
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
NM_003640.5(ELP1):c.969G>A (p.Trp323Ter)
|
rs1829266738
|
0.00001
|
NM_003640.5(ELP1):c.96G>A (p.Thr32=)
|
rs748202041
|
0.00001
|
GRCh37/hg19 9q31.3(chr9:111654395-111670100)x1
|
|
|
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
|
|
|
NC_000009.11:g.(?_111631385)_(111663971_?)del
|
|
|
NC_000009.11:g.(?_111642322)_(111644477_?)del
|
|
|
NC_000009.11:g.(?_111658756)_(111670704_?)del
|
|
|
NC_000009.11:g.(?_111662092)_(111663971_?)dup
|
|
|
NC_000009.11:g.(?_111665109)_(111665959_?)del
|
|
|
NC_000009.11:g.(?_111673280)_(111679960_?)del
|
|
|
NC_000009.11:g.(?_111679817)_(111679960_?)del
|
|
|
NC_000009.11:g.(?_111681081)_(111681639_?)del
|
|
|
NC_000009.11:g.(?_111692039)_(111693436_?)del
|
|
|
NC_000009.11:g.(?_111693257)_(111693446_?)dup
|
|
|
NC_000009.12:g.(?_108869105)_(108903679_?)del
|
|
|
NC_000009.12:g.(?_108869115)_(108901681_?)del
|
|
|
NC_000009.12:g.(?_108877985)_(108931156_?)del
|
|
|
NC_000009.12:g.(?_108930987)_(108931156_?)del
|
|
|
NC_000009.12:g.108902941CT[1]
|
|
|
NC_000009.12:g.108929922del
|
|
|
NC_000009.12:g.108934341C>G
|
rs200182947
|
|
NM_003640.4(ELP1):c.-353C>A
|
rs886063351
|
|
NM_003640.4(ELP1):c.-534delC
|
rs544672591
|
|
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del)
|
rs750344128
|
|
NM_003640.5(ELP1):c.*103A>G
|
rs1827336019
|
|
NM_003640.5(ELP1):c.*1124C>T
|
rs746907451
|
|
NM_003640.5(ELP1):c.*1191T>G
|
rs539404183
|
|
NM_003640.5(ELP1):c.*1196G>T
|
rs1827297816
|
|
NM_003640.5(ELP1):c.*1254C>A
|
rs879924643
|
|
NM_003640.5(ELP1):c.*1406A>G
|
rs1827290161
|
|
NM_003640.5(ELP1):c.*1428G>T
|
rs1040481870
|
|
NM_003640.5(ELP1):c.*1429C>T
|
rs199666995
|
|
NM_003640.5(ELP1):c.*344A>G
|
rs555355380
|
|
NM_003640.5(ELP1):c.*636T>C
|
rs1827316671
|
|
NM_003640.5(ELP1):c.*705C>T
|
rs1827314926
|
|
NM_003640.5(ELP1):c.*769T>A
|
rs1827312944
|
|
NM_003640.5(ELP1):c.*806A>C
|
rs549486672
|
|
NM_003640.5(ELP1):c.*82G>A
|
rs1827337150
|
|
NM_003640.5(ELP1):c.*838C>T
|
rs772279169
|
|
NM_003640.5(ELP1):c.-155A>G
|
rs117100816
|
|
NM_003640.5(ELP1):c.-155A>T
|
rs117100816
|
|
NM_003640.5(ELP1):c.-158C>G
|
rs530824179
|
|
NM_003640.5(ELP1):c.-177C>T
|
rs138630440
|
|
NM_003640.5(ELP1):c.-179G>C
|
rs528803158
|
|
NM_003640.5(ELP1):c.-17G>A
|
rs199738099
|
|
NM_003640.5(ELP1):c.-38A>G
|
rs768298252
|
|
NM_003640.5(ELP1):c.-59_-56+15del
|
rs993537831
|
|
NM_003640.5(ELP1):c.1002A>G (p.Gln334=)
|
|
|
NM_003640.5(ELP1):c.1008A>G (p.Leu336=)
|
|
|
NM_003640.5(ELP1):c.100C>G (p.Leu34Val)
|
rs140944971
|
|
NM_003640.5(ELP1):c.1015A>C (p.Ser339Arg)
|
rs1350193684
|
|
NM_003640.5(ELP1):c.1017C>G (p.Ser339Arg)
|
|
|
NM_003640.5(ELP1):c.1017C>T (p.Ser339=)
|
|
|
NM_003640.5(ELP1):c.1020C>T (p.Thr340=)
|
|
|
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)
|
|
|
NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg)
|
rs772819713
|
|
NM_003640.5(ELP1):c.1035G>A (p.Lys345=)
|
|
|
NM_003640.5(ELP1):c.1037T>C (p.Ile346Thr)
|
|
|
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)
|
rs1587908989
|
|
NM_003640.5(ELP1):c.1047G>T (p.Leu349=)
|
|
|
NM_003640.5(ELP1):c.104T>C (p.Ile35Thr)
|
|
|
NM_003640.5(ELP1):c.1052G>A (p.Trp351Ter)
|
rs2132016798
|
|
NM_003640.5(ELP1):c.1052_1055dup (p.Asp352fs)
|
|
|
NM_003640.5(ELP1):c.1053G>A (p.Trp351Ter)
|
rs2132016792
|
|
NM_003640.5(ELP1):c.1057C>G (p.Pro353Ala)
|
|
|
NM_003640.5(ELP1):c.1066C>T (p.Pro356Ser)
|
rs1339454272
|
|
NM_003640.5(ELP1):c.1066_1067dup (p.Tyr357fs)
|
|
|
NM_003640.5(ELP1):c.1072C>A (p.Arg358=)
|
|
|
NM_003640.5(ELP1):c.1077G>A (p.Leu359=)
|
|
|
NM_003640.5(ELP1):c.1083T>C (p.Val361=)
|
|
|
NM_003640.5(ELP1):c.1086C>T (p.Leu362=)
|
rs765911613
|
|
NM_003640.5(ELP1):c.1092G>C (p.Gln364His)
|
rs1829258370
|
|
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val)
|
rs1564096412
|
|
NM_003640.5(ELP1):c.1095C>A (p.Gly365=)
|
|
|
NM_003640.5(ELP1):c.1099C>T (p.His367Tyr)
|
|
|
NM_003640.5(ELP1):c.1107C>G (p.Leu369=)
|
|
|
NM_003640.5(ELP1):c.1108G>A (p.Ala370Thr)
|
|
|
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)
|
|
|
NM_003640.5(ELP1):c.1113T>C (p.Tyr371=)
|
|
|
NM_003640.5(ELP1):c.1114G>C (p.Asp372His)
|
|
|
NM_003640.5(ELP1):c.1118G>T (p.Trp373Leu)
|
|
|
NM_003640.5(ELP1):c.1128G>C (p.Thr376=)
|
rs781087704
|
|
NM_003640.5(ELP1):c.1128G>T (p.Thr376=)
|
rs781087704
|
|
NM_003640.5(ELP1):c.1129A>G (p.Thr377Ala)
|
|
|
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)
|
rs766255360
|
|
NM_003640.5(ELP1):c.1136G>A (p.Arg379Gln)
|
|
|
NM_003640.5(ELP1):c.1137G>A (p.Arg379=)
|
|
|
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr)
|
rs749865081
|
|
NM_003640.5(ELP1):c.1140C>A (p.Ser380Arg)
|
rs771575205
|
|
NM_003640.5(ELP1):c.1140C>T (p.Ser380=)
|
rs771575205
|
|
NM_003640.5(ELP1):c.1147G>T (p.Asp383Tyr)
|
rs1254770684
|
|
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086
|
|
NM_003640.5(ELP1):c.1155A>G (p.Ser385=)
|
|
|
NM_003640.5(ELP1):c.1161C>T (p.Asp387=)
|
|
|
NM_003640.5(ELP1):c.1164G>C (p.Leu388Phe)
|
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
NM_003640.5(ELP1):c.1170T>C (p.Asn390=)
|
|
|
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val)
|
rs1554699340
|
|
NM_003640.5(ELP1):c.117T>C (p.His39=)
|
rs2132052817
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
NM_003640.5(ELP1):c.1187G>C (p.Gly396Ala)
|
rs1414061926
|
|
NM_003640.5(ELP1):c.1189+16G>A
|
|
|
NM_003640.5(ELP1):c.1189+16G>C
|
|
|
NM_003640.5(ELP1):c.1189+1G>A
|
rs1554699327
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
NM_003640.5(ELP1):c.1189+6C>G
|
|
|
NM_003640.5(ELP1):c.1189+7T>C
|
rs2132016301
|
|
NM_003640.5(ELP1):c.1190-12T>C
|
|
|
NM_003640.5(ELP1):c.1190-14_1190-11del
|
|
|
NM_003640.5(ELP1):c.1190-1G>C
|
rs2132014128
|
|
NM_003640.5(ELP1):c.1190-2A>G
|
rs2132014132
|
|
NM_003640.5(ELP1):c.1190-6C>T
|
rs1340978905
|
|
NM_003640.5(ELP1):c.1190-8C>T
|
|
|
NM_003640.5(ELP1):c.1190-9T>A
|
|
|
NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs)
|
|
|
NM_003640.5(ELP1):c.1193G>A (p.Arg398Lys)
|
|
|
NM_003640.5(ELP1):c.1197G>A (p.Val399=)
|
|
|
NM_003640.5(ELP1):c.119G>T (p.Gly40Val)
|
rs1829988830
|
|
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs)
|
|
|
NM_003640.5(ELP1):c.1206A>G (p.Thr402=)
|
rs2132014080
|
|
NM_003640.5(ELP1):c.1211T>C (p.Phe404Ser)
|
|
|
NM_003640.5(ELP1):c.1213del (p.Arg405fs)
|
|
|
NM_003640.5(ELP1):c.1215G>T (p.Arg405=)
|
|
|
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
|
|
|
NM_003640.5(ELP1):c.1224G>C (p.Val408=)
|
|
|
NM_003640.5(ELP1):c.1236C>T (p.Pro412=)
|
|
|
NM_003640.5(ELP1):c.1237A>C (p.Met413Leu)
|
|
|
NM_003640.5(ELP1):c.1242C>A (p.Cys414Ter)
|
|
|
NM_003640.5(ELP1):c.1242C>T (p.Cys414=)
|
rs1233980811
|
|
NM_003640.5(ELP1):c.1247dup (p.Tyr416Ter)
|
|
|
NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)
|
|
|
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro)
|
rs1554699019
|
|
NM_003640.5(ELP1):c.125T>C (p.Ile42Thr)
|
|
|
NM_003640.5(ELP1):c.1264C>T (p.His422Tyr)
|
|
|
NM_003640.5(ELP1):c.1269dup (p.Val424fs)
|
rs2132013817
|
|
NM_003640.5(ELP1):c.1271T>A (p.Val424Glu)
|
|
|
NM_003640.5(ELP1):c.1272G>T (p.Val424=)
|
|
|
NM_003640.5(ELP1):c.1278A>G (p.Gln426=)
|
rs372511606
|
|
NM_003640.5(ELP1):c.1281C>T (p.Val427=)
|
rs2132013769
|
|
NM_003640.5(ELP1):c.1289T>A (p.Leu430Ter)
|
rs2132013740
|
|
NM_003640.5(ELP1):c.1293A>G (p.Ala431=)
|
|
|
NM_003640.5(ELP1):c.1296C>T (p.His432=)
|
|
|
NM_003640.5(ELP1):c.12G>C (p.Leu4=)
|
|
|
NM_003640.5(ELP1):c.1309A>G (p.Asn437Asp)
|
|
|
NM_003640.5(ELP1):c.131T>C (p.Val44Ala)
|
rs1829988347
|
|
NM_003640.5(ELP1):c.1326A>G (p.Leu442=)
|
|
|
NM_003640.5(ELP1):c.1331C>T (p.Ala444Val)
|
rs2132013549
|
|
NM_003640.5(ELP1):c.1332C>T (p.Ala444=)
|
|
|
NM_003640.5(ELP1):c.1333del (p.Ser445fs)
|
rs2132013543
|
|
NM_003640.5(ELP1):c.1336A>G (p.Asn446Asp)
|
rs1829197624
|
|
NM_003640.5(ELP1):c.1339C>T (p.Gln447Ter)
|
rs1271784136
|
|
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr)
|
rs147575152
|
|
NM_003640.5(ELP1):c.1344T>C (p.Ile448=)
|
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
NM_003640.5(ELP1):c.1353T>C (p.Tyr451=)
|
|
|
NM_003640.5(ELP1):c.1355A>C (p.Lys452Thr)
|
rs1829195961
|
|
NM_003640.5(ELP1):c.1358G>A (p.Cys453Tyr)
|
|
|
NM_003640.5(ELP1):c.135C>T (p.Asp45=)
|
|
|
NM_003640.5(ELP1):c.1360+10A>G
|
rs1587907182
|
|
NM_003640.5(ELP1):c.1360+15T>C
|
|
|
NM_003640.5(ELP1):c.1360+15T>G
|
|
|
NM_003640.5(ELP1):c.1360+166dup
|
rs11431875
|
|
NM_003640.5(ELP1):c.1360+1G>T
|
rs1201626345
|
|
NM_003640.5(ELP1):c.1360+20C>T
|
|
|
NM_003640.5(ELP1):c.1360+8A>G
|
|
|
NM_003640.5(ELP1):c.1360+9dup
|
rs2132013416
|
|
NM_003640.5(ELP1):c.1361-10T>C
|
rs2132007961
|
|
NM_003640.5(ELP1):c.1361-15A>G
|
|
|
NM_003640.5(ELP1):c.1361-17G>A
|
|
|
NM_003640.5(ELP1):c.1361-3C>A
|
rs1829095177
|
|
NM_003640.5(ELP1):c.1371A>G (p.Pro457=)
|
rs1390004137
|
|
NM_003640.5(ELP1):c.1371A>T (p.Pro457=)
|
rs1390004137
|
|
NM_003640.5(ELP1):c.1377T>C (p.Ala459=)
|
|
|
NM_003640.5(ELP1):c.1380C>T (p.Asp460=)
|
|
|
NM_003640.5(ELP1):c.1383T>C (p.Pro461=)
|
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln)
|
rs1829093766
|
|
NM_003640.5(ELP1):c.1399G>C (p.Ala467Pro)
|
|
|
NM_003640.5(ELP1):c.139G>A (p.Val47Ile)
|
rs151209640
|
|
NM_003640.5(ELP1):c.1405G>A (p.Gly469Ser)
|
|
|
NM_003640.5(ELP1):c.1406del (p.Gly469fs)
|
|
|
NM_003640.5(ELP1):c.1416A>G (p.Gly472=)
|
rs1587904647
|
|
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs)
|
|
|
NM_003640.5(ELP1):c.1433del (p.Arg478fs)
|
rs2132007757
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
NM_003640.5(ELP1):c.144A>G (p.Ser48=)
|
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
NM_003640.5(ELP1):c.1460+11A>T
|
|
|
NM_003640.5(ELP1):c.1460+13T>G
|
|
|
NM_003640.5(ELP1):c.1460+17C>A
|
|
|
NM_003640.5(ELP1):c.1460+17C>G
|
|
|
NM_003640.5(ELP1):c.1460+17C>T
|
|
|
NM_003640.5(ELP1):c.1460+19T>C
|
|
|
NM_003640.5(ELP1):c.1460+1G>A
|
rs1564093439
|
|
NM_003640.5(ELP1):c.1460+3A>G
|
rs1564093432
|
|
NM_003640.5(ELP1):c.1460+8C>G
|
|
|
NM_003640.5(ELP1):c.1460+9T>A
|
rs760949924
|
|
NM_003640.5(ELP1):c.1461-11A>G
|
|
|
NM_003640.5(ELP1):c.1461-13A>G
|
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
NM_003640.5(ELP1):c.1461-6C>T
|
rs2132003743
|
|
NM_003640.5(ELP1):c.1461-7A>G
|
rs762657303
|
|
NM_003640.5(ELP1):c.1464C>T (p.Ile488=)
|
|
|
NM_003640.5(ELP1):c.1465C>T (p.Gln489Ter)
|
|
|
NM_003640.5(ELP1):c.1467G>A (p.Gln489=)
|
|
|
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer)
|
rs1554698037
|
|
NM_003640.5(ELP1):c.1477A>G (p.Asn493Asp)
|
|
|
NM_003640.5(ELP1):c.147_150+1dup
|
rs1319053366
|
|
NM_003640.5(ELP1):c.1482A>C (p.Glu494Asp)
|
rs1829023404
|
|
NM_003640.5(ELP1):c.1483_1505del (p.Asp495fs)
|
|
|
NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter)
|
rs749704610
|
|
NM_003640.5(ELP1):c.1499del (p.Pro500fs)
|
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
NM_003640.5(ELP1):c.150+10T>C
|
|
|
NM_003640.5(ELP1):c.150+13T>C
|
|
|
NM_003640.5(ELP1):c.150+145A>G
|
rs838818
|
|
NM_003640.5(ELP1):c.150+14G>A
|
|
|
NM_003640.5(ELP1):c.150+1G>A
|
rs1554703831
|
|
NM_003640.5(ELP1):c.150+8A>C
|
rs1306503405
|
|
NM_003640.5(ELP1):c.1500G>A (p.Pro500=)
|
rs749837963
|
|
NM_003640.5(ELP1):c.1506A>G (p.Lys502=)
|
|
|
NM_003640.5(ELP1):c.151-14T>C
|
|
|
NM_003640.5(ELP1):c.151-1G>A
|
rs1554703613
|
|
NM_003640.5(ELP1):c.151-1G>T
|
rs1554703613
|
|
NM_003640.5(ELP1):c.151-2A>C
|
|
|
NM_003640.5(ELP1):c.151-2del
|
rs1439727159
|
|
NM_003640.5(ELP1):c.151-9T>C
|
rs747310144
|
|
NM_003640.5(ELP1):c.151-9T>G
|
rs747310144
|
|
NM_003640.5(ELP1):c.1515T>G (p.Leu505=)
|
|
|
NM_003640.5(ELP1):c.1524G>A (p.Trp508Ter)
|
|
|
NM_003640.5(ELP1):c.1527T>C (p.Ile509=)
|
|
|
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)
|
rs201706900
|
|
NM_003640.5(ELP1):c.1539C>G (p.Val513=)
|
|
|
NM_003640.5(ELP1):c.1539C>T (p.Val513=)
|
rs765163631
|
|
NM_003640.5(ELP1):c.1540T>C (p.Phe514Leu)
|
rs2132003509
|
|
NM_003640.5(ELP1):c.1548T>C (p.Ala516=)
|
|
|
NM_003640.5(ELP1):c.1550T>C (p.Val517Ala)
|
|
|
NM_003640.5(ELP1):c.1551A>C (p.Val517=)
|
|
|
NM_003640.5(ELP1):c.1557C>T (p.His519=)
|
rs764067957
|
|
NM_003640.5(ELP1):c.1563G>A (p.Glu521=)
|
rs969266362
|
|
NM_003640.5(ELP1):c.1566C>T (p.Phe522=)
|
|
|
NM_003640.5(ELP1):c.1569C>T (p.Ser523=)
|
rs768796350
|
|
NM_003640.5(ELP1):c.1570C>T (p.Pro524Ser)
|
|
|
NM_003640.5(ELP1):c.1576T>A (p.Ser526Thr)
|
rs2132003336
|
|
NM_003640.5(ELP1):c.1581C>G (p.Val527=)
|
|
|
NM_003640.5(ELP1):c.1586A>G (p.His529Arg)
|
rs1829018937
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
NM_003640.5(ELP1):c.1587C>T (p.His529=)
|
|
|
NM_003640.5(ELP1):c.15A>G (p.Lys5=)
|
|
|
NM_003640.5(ELP1):c.1603TCT[1] (p.Ser536del)
|
|
|
NM_003640.5(ELP1):c.1612A>G (p.Met538Val)
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
NM_003640.5(ELP1):c.1615_1618del (p.Asp539fs)
|
rs2132003172
|
|
NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs)
|
|
|
NM_003640.5(ELP1):c.1623G>A (p.Glu541=)
|
rs1670127805
|
|
NM_003640.5(ELP1):c.1626T>C (p.His542=)
|
|
|
NM_003640.5(ELP1):c.1629A>G (p.Gly543=)
|
rs954539305
|
|
NM_003640.5(ELP1):c.1632G>A (p.Gln544=)
|
|
|
NM_003640.5(ELP1):c.1637A>G (p.Asn546Ser)
|
|
|
NM_003640.5(ELP1):c.1642A>G (p.Ser548Gly)
|
rs1829015512
|
|
NM_003640.5(ELP1):c.1643+10T>A
|
|
|
NM_003640.5(ELP1):c.1643+14T>C
|
|
|
NM_003640.5(ELP1):c.1643+14dup
|
|
|
NM_003640.5(ELP1):c.1643+16C>T
|
|
|
NM_003640.5(ELP1):c.1643+18del
|
rs2132003038
|
|
NM_003640.5(ELP1):c.1643+1G>A
|
|
|
NM_003640.5(ELP1):c.1643+233T>A
|
rs73654150
|
|
NM_003640.5(ELP1):c.1643+2T>C
|
|
|
NM_003640.5(ELP1):c.1643+7C>T
|
rs1231114175
|
|
NM_003640.5(ELP1):c.1643+9G>A
|
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
NM_003640.5(ELP1):c.1644-15C>G
|
|
|
NM_003640.5(ELP1):c.1644-15_1644-13del
|
rs753571092
|
|
NM_003640.5(ELP1):c.1644-16T>C
|
|
|
NM_003640.5(ELP1):c.1644-16del
|
|
|
NM_003640.5(ELP1):c.1644-183GT[10]
|
rs3835305
|
|
NM_003640.5(ELP1):c.1644-183GT[11]
|
rs3835305
|
|
NM_003640.5(ELP1):c.1644-183GT[12]
|
rs3835305
|
|
NM_003640.5(ELP1):c.1644-183GT[13]
|
rs3835305
|
|
NM_003640.5(ELP1):c.1644-183GT[15]
|
rs3835305
|
|
NM_003640.5(ELP1):c.1644-1G>T
|
rs1451406050
|
|
NM_003640.5(ELP1):c.1644-20C>T
|
|
|
NM_003640.5(ELP1):c.1644-20_1644-17del
|
|
|
NM_003640.5(ELP1):c.1644-2A>C
|
rs1413906605
|
|
NM_003640.5(ELP1):c.1644-5G>A
|
rs747025041
|
|
NM_003640.5(ELP1):c.1644-5G>T
|
rs747025041
|
|
NM_003640.5(ELP1):c.1644-9T>C
|
|
|
NM_003640.5(ELP1):c.1645T>C (p.Ser549Pro)
|
|
|
NM_003640.5(ELP1):c.1647A>G (p.Ser549=)
|
|
|
NM_003640.5(ELP1):c.1649C>T (p.Ser550Phe)
|
|
|
NM_003640.5(ELP1):c.1650T>C (p.Ser550=)
|
|
|
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly)
|
rs139891858
|
|
NM_003640.5(ELP1):c.1655C>T (p.Ala552Val)
|
|
|
NM_003640.5(ELP1):c.1656G>T (p.Ala552=)
|
rs200535861
|
|
NM_003640.5(ELP1):c.1657G>T (p.Val553Leu)
|
rs376515761
|
|
NM_003640.5(ELP1):c.165T>C (p.Val55=)
|
rs2132050199
|
|
NM_003640.5(ELP1):c.165T>G (p.Val55=)
|
|
|
NM_003640.5(ELP1):c.1666G>C (p.Val556Leu)
|
|
|
NM_003640.5(ELP1):c.1675A>T (p.Ser559Cys)
|
|
|
NM_003640.5(ELP1):c.1680A>G (p.Leu560=)
|
|
|
NM_003640.5(ELP1):c.1683T>C (p.Cys561=)
|
rs2131996867
|
|
NM_003640.5(ELP1):c.1686C>G (p.Cys562Trp)
|
|
|
NM_003640.5(ELP1):c.1693A>G (p.Lys565Glu)
|
|
|
NM_003640.5(ELP1):c.1696_1697del (p.Thr566fs)
|
rs2131996846
|
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349
|
|
NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del)
|
rs1554697136
|
|
NM_003640.5(ELP1):c.1707A>G (p.Val569=)
|
|
|
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly)
|
rs886063348
|
|
NM_003640.5(ELP1):c.1718T>A (p.Leu573Gln)
|
|
|
NM_003640.5(ELP1):c.1722T>C (p.Ala574=)
|
rs2131996768
|
|
NM_003640.5(ELP1):c.1727G>A (p.Gly576Asp)
|
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
NM_003640.5(ELP1):c.1731_1735del (p.Gln577fs)
|
|
|
NM_003640.5(ELP1):c.1735T>A (p.Phe579Ile)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1737T>C (p.Phe579=)
|
rs2131996743
|
|
NM_003640.5(ELP1):c.1740G>A (p.Lys580=)
|
|
|
NM_003640.5(ELP1):c.1742A>G (p.Tyr581Cys)
|
|
|
NM_003640.5(ELP1):c.1744C>A (p.Leu582Ile)
|
|
|
NM_003640.5(ELP1):c.1749G>C (p.Trp583Cys)
|
rs1828896752
|
|
NM_003640.5(ELP1):c.1750+16T>G
|
|
|
NM_003640.5(ELP1):c.1750+19G>A
|
|
|
NM_003640.5(ELP1):c.1750+1G>A
|
rs770668926
|
|
NM_003640.5(ELP1):c.1750+1G>T
|
rs770668926
|
|
NM_003640.5(ELP1):c.1750+9C>A
|
|
|
NM_003640.5(ELP1):c.1750+9C>G
|
rs1828896199
|
|
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys)
|
rs1828896602
|
|
NM_003640.5(ELP1):c.1751-10A>C
|
|
|
NM_003640.5(ELP1):c.1751-15C>T
|
|
|
NM_003640.5(ELP1):c.1751-16T>C
|
|
|
NM_003640.5(ELP1):c.1751-2A>T
|
rs1554697001
|
|
NM_003640.5(ELP1):c.1754C>A (p.Ser585Ter)
|
rs1828866977
|
|
NM_003640.5(ELP1):c.1770T>G (p.Ile590Met)
|
|
|
NM_003640.5(ELP1):c.1773A>G (p.Lys591=)
|
|
|
NM_003640.5(ELP1):c.1774C>T (p.Pro592Ser)
|
|
|
NM_003640.5(ELP1):c.1776A>G (p.Pro592=)
|
|
|
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)
|
|
|
NM_003640.5(ELP1):c.1787C>G (p.Ser596Cys)
|
|
|
NM_003640.5(ELP1):c.1788T>C (p.Ser596=)
|
|
|
NM_003640.5(ELP1):c.178G>A (p.Glu60Lys)
|
|
|
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln)
|
rs755988042
|
|
NM_003640.5(ELP1):c.1791T>C (p.Gly597=)
|
|
|
NM_003640.5(ELP1):c.1800T>C (p.Pro600=)
|
|
|
NM_003640.5(ELP1):c.1821C>T (p.Cys607=)
|
|
|
NM_003640.5(ELP1):c.1829C>T (p.Thr610Ile)
|
rs1034282177
|
|
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)
|
|
|
NM_003640.5(ELP1):c.1836G>A (p.Leu612=)
|
|
|
NM_003640.5(ELP1):c.1837G>A (p.Ala613Thr)
|
|
|
NM_003640.5(ELP1):c.1840A>G (p.Met614Val)
|
rs568478937
|
|
NM_003640.5(ELP1):c.1846G>A (p.Gly616Arg)
|
|
|
NM_003640.5(ELP1):c.1854+11A>G
|
|
|
NM_003640.5(ELP1):c.1854+12C>T
|
|
|
NM_003640.5(ELP1):c.1854+19G>A
|
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
NM_003640.5(ELP1):c.1854+7G>A
|
|
|
NM_003640.5(ELP1):c.1854+7G>C
|
rs2131994977
|
|
NM_003640.5(ELP1):c.1855-18A>C
|
|
|
NM_003640.5(ELP1):c.1855-18A>T
|
|
|
NM_003640.5(ELP1):c.1855-4G>C
|
rs1262458155
|
|
NM_003640.5(ELP1):c.1867G>T (p.Gly623Cys)
|
|
|
NM_003640.5(ELP1):c.1870C>T (p.Leu624=)
|
|
|
NM_003640.5(ELP1):c.1872G>A (p.Leu624=)
|
|
|
NM_003640.5(ELP1):c.1877A>G (p.Asp626Gly)
|
rs2131992524
|
|
NM_003640.5(ELP1):c.1881G>A (p.Arg627=)
|
|
|
NM_003640.5(ELP1):c.1881G>T (p.Arg627Ser)
|
|
|
NM_003640.5(ELP1):c.1884T>A (p.Cys628Ter)
|
rs2131992501
|
|
NM_003640.5(ELP1):c.1885C>T (p.Arg629Cys)
|
|
|
NM_003640.5(ELP1):c.1886del (p.Arg629fs)
|
|
|
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu)
|
rs1828814518
|
|
NM_003640.5(ELP1):c.1893C>T (p.Phe631=)
|
rs1038922476
|
|
NM_003640.5(ELP1):c.1897A>G (p.Asn633Asp)
|
|
|
NM_003640.5(ELP1):c.189C>G (p.Leu63=)
|
rs2230786
|
|
NM_003640.5(ELP1):c.18A>T (p.Leu6Phe)
|
rs1829992932
|
|
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer)
|
rs1554696650
|
|
NM_003640.5(ELP1):c.1908+19G>T
|
|
|
NM_003640.5(ELP1):c.1908+1G>A
|
|
|
NM_003640.5(ELP1):c.1908+2T>A
|
rs1554696648
|
|
NM_003640.5(ELP1):c.1908+9G>T
|
|
|
NM_003640.5(ELP1):c.1909-10T>C
|
rs2131992149
|
|
NM_003640.5(ELP1):c.1909-14G>A
|
rs2131992163
|
|
NM_003640.5(ELP1):c.1909-14G>T
|
|
|
NM_003640.5(ELP1):c.1909-17C>T
|
|
|
NM_003640.5(ELP1):c.1909-2A>C
|
rs2131992124
|
|
NM_003640.5(ELP1):c.1909-7C>T
|
rs2131992129
|
|
NM_003640.5(ELP1):c.1909-8T>C
|
rs2131992137
|
|
NM_003640.5(ELP1):c.1909-9C>T
|
rs2131992144
|
|
NM_003640.5(ELP1):c.1909G>A (p.Val637Ile)
|
|
|
NM_003640.5(ELP1):c.190C>G (p.Pro64Ala)
|
|
|
NM_003640.5(ELP1):c.1921A>G (p.Ile641Val)
|
|
|
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys)
|
rs377020122
|
|
NM_003640.5(ELP1):c.1929A>G (p.Ser643=)
|
|
|
NM_003640.5(ELP1):c.1934del (p.Ala645fs)
|
|
|
NM_003640.5(ELP1):c.1935A>G (p.Ala645=)
|
rs2131992030
|
|
NM_003640.5(ELP1):c.1938A>T (p.Val646=)
|
rs750906847
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
NM_003640.5(ELP1):c.1941TGA[1] (p.Asp648del)
|
rs1554696595
|
|
NM_003640.5(ELP1):c.1942G>A (p.Asp648Asn)
|
|
|
NM_003640.5(ELP1):c.1953A>G (p.Leu651=)
|
|
|
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)
|
|
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs542412132
|
|
NM_003640.5(ELP1):c.195G>T (p.Glu65Asp)
|
|
|
NM_003640.5(ELP1):c.1961del (p.Thr654fs)
|
|
|
NM_003640.5(ELP1):c.1962A>G (p.Thr654=)
|
rs2131991951
|
|
NM_003640.5(ELP1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_003640.5(ELP1):c.1971C>T (p.Ser657=)
|
rs1000043423
|
|
NM_003640.5(ELP1):c.1974T>A (p.His658Gln)
|
|
|
NM_003640.5(ELP1):c.1975A>G (p.Thr659Ala)
|
rs200117008
|
|
NM_003640.5(ELP1):c.1975A>T (p.Thr659Ser)
|
rs200117008
|
|
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del)
|
rs1554696580
|
|
NM_003640.5(ELP1):c.1989T>C (p.Phe663=)
|
|
|
NM_003640.5(ELP1):c.1990del (p.Cys664fs)
|
|
|
NM_003640.5(ELP1):c.1995G>A (p.Leu665=)
|
|
|
NM_003640.5(ELP1):c.1A>T (p.Met1Leu)
|
rs1554703907
|
|
NM_003640.5(ELP1):c.2002G>A (p.Ala668Thr)
|
|
|
NM_003640.5(ELP1):c.2004T>C (p.Ala668=)
|
|
|
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro)
|
rs1587896793
|
|
NM_003640.5(ELP1):c.2005T>G (p.Ser669Ala)
|
|
|
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)
|
rs1587896788
|
|
NM_003640.5(ELP1):c.2007A>G (p.Ser669=)
|
rs1828801329
|
|
NM_003640.5(ELP1):c.2014+10C>A
|
rs1271477038
|
|
NM_003640.5(ELP1):c.2014+10C>T
|
|
|
NM_003640.5(ELP1):c.2014+11A>G
|
|
|
NM_003640.5(ELP1):c.2014+12A>G
|
|
|
NM_003640.5(ELP1):c.2014+12A>T
|
|
|
NM_003640.5(ELP1):c.2014+13T>C
|
|
|
NM_003640.5(ELP1):c.2014+14G>C
|
|
|
NM_003640.5(ELP1):c.2014+19A>G
|
|
|
NM_003640.5(ELP1):c.2014+1G>A
|
rs1554696574
|
|
NM_003640.5(ELP1):c.2014+6T>G
|
|
|
NM_003640.5(ELP1):c.2014+75C>A
|
rs2275631
|
|
NM_003640.5(ELP1):c.2014+8T>G
|
rs2131991758
|
|
NM_003640.5(ELP1):c.2014+9T>C
|
rs2131991753
|
|
NM_003640.5(ELP1):c.2015-10GT[2]
|
|
|
NM_003640.5(ELP1):c.2015-11G>C
|
|
|
NM_003640.5(ELP1):c.2015-2A>G
|
rs1828729991
|
|
NM_003640.5(ELP1):c.2017T>C (p.Leu673=)
|
rs1182348530
|
|
NM_003640.5(ELP1):c.2019A>G (p.Leu673=)
|
rs2131988824
|
|
NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter)
|
rs2131988821
|
|
NM_003640.5(ELP1):c.2025C>A (p.Ala675=)
|
rs200532312
|
|
NM_003640.5(ELP1):c.2025C>G (p.Ala675=)
|
|
|
NM_003640.5(ELP1):c.202del (p.Ser68fs)
|
|
|
NM_003640.5(ELP1):c.2031G>A (p.Leu677=)
|
rs1315300646
|
|
NM_003640.5(ELP1):c.2034C>T (p.Ser678=)
|
rs2131988767
|
|
NM_003640.5(ELP1):c.2035del (p.Ser679fs)
|
rs1587895234
|
|
NM_003640.5(ELP1):c.2036G>A (p.Ser679Asn)
|
rs1828727895
|
|
NM_003640.5(ELP1):c.2039A>G (p.Asn680Ser)
|
|
|
NM_003640.5(ELP1):c.2044G>A (p.Val682Met)
|
|
|
NM_003640.5(ELP1):c.2051A>G (p.His684Arg)
|
|
|
NM_003640.5(ELP1):c.2052T>A (p.His684Gln)
|
rs1321906641
|
|
NM_003640.5(ELP1):c.2052T>C (p.His684=)
|
|
|
NM_003640.5(ELP1):c.2054G>A (p.Gly685Glu)
|
rs2131988688
|
|
NM_003640.5(ELP1):c.2055G>A (p.Gly685=)
|
|
|
NM_003640.5(ELP1):c.2058A>G (p.Glu686=)
|
|
|
NM_003640.5(ELP1):c.2065C>A (p.Arg689=)
|
rs201390288
|
|
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
|
|
|
NM_003640.5(ELP1):c.2068A>C (p.Lys690Gln)
|
rs761858315
|
|
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu)
|
rs761858315
|
|
NM_003640.5(ELP1):c.2070A>G (p.Lys690=)
|
rs2131988616
|
|
NM_003640.5(ELP1):c.2076dup (p.Arg693fs)
|
rs763445509
|
|
NM_003640.5(ELP1):c.2079G>A (p.Arg693=)
|
|
|
NM_003640.5(ELP1):c.2080G>T (p.Gly694Cys)
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003640.5(ELP1):c.2088G>A (p.Arg696=)
|
|
|
NM_003640.5(ELP1):c.2088del (p.Ile697fs)
|
rs2131988498
|
|
NM_003640.5(ELP1):c.208C>G (p.Arg70Gly)
|
|
|
NM_003640.5(ELP1):c.2091T>G (p.Ile697Met)
|
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
NM_003640.5(ELP1):c.209G>A (p.Arg70His)
|
rs111936933
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2107C>G (p.Gln703Glu)
|
rs2131988430
|
|
NM_003640.5(ELP1):c.2108A>G (p.Gln703Arg)
|
|
|
NM_003640.5(ELP1):c.210C>A (p.Arg70=)
|
|
|
NM_003640.5(ELP1):c.210C>T (p.Arg70=)
|
rs768826752
|
|
NM_003640.5(ELP1):c.2115A>C (p.Thr705=)
|
rs2131988404
|
|
NM_003640.5(ELP1):c.2119C>G (p.Leu707Val)
|
rs769927115
|
|
NM_003640.5(ELP1):c.2124A>G (p.Val708=)
|
|
|
NM_003640.5(ELP1):c.2126T>G (p.Leu709Ter)
|
|
|
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
|
|
|
NM_003640.5(ELP1):c.2130+10T>G
|
|
|
NM_003640.5(ELP1):c.2130+16A>G
|
|
|
NM_003640.5(ELP1):c.2130+18A>T
|
|
|
NM_003640.5(ELP1):c.2130+20A>C
|
|
|
NM_003640.5(ELP1):c.2130+9G>T
|
rs2131988347
|
|
NM_003640.5(ELP1):c.2131-19C>T
|
|
|
NM_003640.5(ELP1):c.2131-20A>G
|
|
|
NM_003640.5(ELP1):c.2131-6T>C
|
|
|
NM_003640.5(ELP1):c.2131-8T>C
|
|
|
NM_003640.5(ELP1):c.2131A>G (p.Met711Val)
|
|
|
NM_003640.5(ELP1):c.2151A>G (p.Glu717=)
|
|
|
NM_003640.5(ELP1):c.2158del (p.His720fs)
|
rs1057516865
|
|
NM_003640.5(ELP1):c.2161C>G (p.His721Asp)
|
rs1300413546
|
|
NM_003640.5(ELP1):c.2164C>T (p.Arg722Ter)
|
|
|
NM_003640.5(ELP1):c.2170C>G (p.Leu724Val)
|
|
|
NM_003640.5(ELP1):c.2176T>C (p.Leu726=)
|
rs2131987533
|
|
NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp)
|
|
|
NM_003640.5(ELP1):c.2197T>C (p.Leu733=)
|
|
|
NM_003640.5(ELP1):c.2199G>A (p.Leu733=)
|
|
|
NM_003640.5(ELP1):c.219T>C (p.Gly73=)
|
rs1482293693
|
|
NM_003640.5(ELP1):c.219T>G (p.Gly73=)
|
rs1482293693
|
|
NM_003640.5(ELP1):c.2204+10A>G
|
rs960701293
|
|
NM_003640.5(ELP1):c.2204+13G>A
|
|
|
NM_003640.5(ELP1):c.2204+141dup
|
rs369301164
|
|
NM_003640.5(ELP1):c.2204+14T>C
|
|
|
NM_003640.5(ELP1):c.2204+18G>A
|
|
|
NM_003640.5(ELP1):c.2204+1G>A
|
rs1057517169
|
|
NM_003640.5(ELP1):c.2204+3_2204+6del
|
|
|
NM_003640.5(ELP1):c.2204+7G>A
|
rs1480239099
|
|
NM_003640.5(ELP1):c.2204+8C>G
|
|
|
NM_003640.5(ELP1):c.2205-12G>A
|
|
|
NM_003640.5(ELP1):c.2205-1G>C
|
rs1554695846
|
|
NM_003640.5(ELP1):c.2205-4A>G
|
|
|
NM_003640.5(ELP1):c.2205-9T>C
|
|
|
NM_003640.5(ELP1):c.221T>C (p.Val74Ala)
|
|
|
NM_003640.5(ELP1):c.2220G>A (p.Glu740=)
|
rs2131985204
|
|
NM_003640.5(ELP1):c.2223A>G (p.Ala741=)
|
|
|
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu)
|
rs1564085701
|
|
NM_003640.5(ELP1):c.2232C>T (p.Cys744=)
|
|
|
NM_003640.5(ELP1):c.2252A>G (p.Asn751Ser)
|
|
|
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)
|
rs182287137
|
|
NM_003640.5(ELP1):c.2256C>G (p.Leu752=)
|
rs748119170
|
|
NM_003640.5(ELP1):c.2262G>A (p.Leu754=)
|
|
|
NM_003640.5(ELP1):c.2268T>A (p.Tyr756Ter)
|
rs1828651198
|
|
NM_003640.5(ELP1):c.2277C>T (p.Asn759=)
|
|
|
NM_003640.5(ELP1):c.2281A>G (p.Lys761Glu)
|
rs1003255472
|
|
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)
|
|
|
NM_003640.5(ELP1):c.2283+10T>C
|
rs966574953
|
|
NM_003640.5(ELP1):c.2283+11_2283+15del
|
rs778115996
|
|
NM_003640.5(ELP1):c.2283+17T>A
|
|
|
NM_003640.5(ELP1):c.2284-11T>C
|
|
|
NM_003640.5(ELP1):c.2284-12T>C
|
|
|
NM_003640.5(ELP1):c.2284-14C>T
|
|
|
NM_003640.5(ELP1):c.2284-17T>C
|
|
|
NM_003640.5(ELP1):c.2284-19T>G
|
|
|
NM_003640.5(ELP1):c.2284-4G>A
|
|
|
NM_003640.5(ELP1):c.2284-4G>C
|
rs1240982391
|
|
NM_003640.5(ELP1):c.2284-5G>T
|
|
|
NM_003640.5(ELP1):c.2284-9T>C
|
rs746925432
|
|
NM_003640.5(ELP1):c.2286G>A (p.Val762=)
|
|
|
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del)
|
rs1554695751
|
|
NM_003640.5(ELP1):c.2320A>G (p.Ile774Val)
|
|
|
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
|
rs1587893028
|
|
NM_003640.5(ELP1):c.2322A>T (p.Ile774=)
|
rs1427912191
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
NM_003640.5(ELP1):c.2326T>A (p.Ser776Thr)
|
|
|
NM_003640.5(ELP1):c.2328T>C (p.Ser776=)
|
rs754322219
|
|
NM_003640.5(ELP1):c.2335C>T (p.His779Tyr)
|
rs2131984597
|
|
NM_003640.5(ELP1):c.2336A>G (p.His779Arg)
|
rs1431007165
|
|
NM_003640.5(ELP1):c.2340T>C (p.Ile780=)
|
rs2131984565
|
|
NM_003640.5(ELP1):c.2359T>C (p.Leu787=)
|
rs931451775
|
|
NM_003640.5(ELP1):c.235G>C (p.Asp79His)
|
rs1554703582
|
|
NM_003640.5(ELP1):c.235G>T (p.Asp79Tyr)
|
|
|
NM_003640.5(ELP1):c.2363+14A>G
|
rs2131984488
|
|
NM_003640.5(ELP1):c.2363+159G>T
|
rs2275628
|
|
NM_003640.5(ELP1):c.2363+18T>G
|
|
|
NM_003640.5(ELP1):c.2363+20del
|
|
|
NM_003640.5(ELP1):c.2363A>G (p.Lys788Arg)
|
|
|
NM_003640.5(ELP1):c.2364-10C>G
|
|
|
NM_003640.5(ELP1):c.2364-17T>C
|
|
|
NM_003640.5(ELP1):c.2364-18A>G
|
|
|
NM_003640.5(ELP1):c.2364-4T>C
|
rs2131982261
|
|
NM_003640.5(ELP1):c.236A>G (p.Asp79Gly)
|
|
|
NM_003640.5(ELP1):c.2370A>T (p.Glu790Asp)
|
|
|
NM_003640.5(ELP1):c.2372A>C (p.Asp791Ala)
|
rs532550445
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
NM_003640.5(ELP1):c.2376C>T (p.Val792=)
|
|
|
NM_003640.5(ELP1):c.2378C>G (p.Thr793Arg)
|
rs201596987
|
|
NM_003640.5(ELP1):c.2379G>A (p.Thr793=)
|
rs1158825223
|
|
NM_003640.5(ELP1):c.2385C>T (p.Thr795=)
|
rs1587891555
|
|
NM_003640.5(ELP1):c.2387T>C (p.Met796Thr)
|
|
|
NM_003640.5(ELP1):c.2391C>T (p.Tyr797=)
|
|
|
NM_003640.5(ELP1):c.2394T>G (p.Pro798=)
|
rs138819925
|
|
NM_003640.5(ELP1):c.2397A>C (p.Ala799=)
|
|
|
NM_003640.5(ELP1):c.2397A>G (p.Ala799=)
|
rs2131982046
|
|
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup)
|
rs1358881100
|
|
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
|
rs370041985
|
|
NM_003640.5(ELP1):c.2404A>G (p.Thr802Ala)
|
|
|
NM_003640.5(ELP1):c.2405C>G (p.Thr802Ser)
|
rs1828592002
|
|
NM_003640.5(ELP1):c.2406C>G (p.Thr802=)
|
|
|
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn)
|
rs1445493033
|
|
NM_003640.5(ELP1):c.2412T>C (p.Ser804=)
|
|
|
NM_003640.5(ELP1):c.2414T>C (p.Val805Ala)
|
rs1564084435
|
|
NM_003640.5(ELP1):c.2415C>T (p.Val805=)
|
rs2131981981
|
|
NM_003640.5(ELP1):c.2420T>A (p.Leu807Gln)
|
rs2131981963
|
|
NM_003640.5(ELP1):c.2424C>T (p.Ser808=)
|
rs1227586609
|
|
NM_003640.5(ELP1):c.2427G>A (p.Arg809=)
|
|
|
NM_003640.5(ELP1):c.2431C>T (p.Pro811Ser)
|
rs765376716
|
|
NM_003640.5(ELP1):c.2433T>C (p.Pro811=)
|
rs1361966261
|
|
NM_003640.5(ELP1):c.2437G>A (p.Gly813Arg)
|
|
|
NM_003640.5(ELP1):c.243G>T (p.Glu81Asp)
|
rs1587926883
|
|
NM_003640.5(ELP1):c.2445A>G (p.Lys815=)
|
|
|
NM_003640.5(ELP1):c.2450del (p.Asp817fs)
|
|
|
NM_003640.5(ELP1):c.2457C>G (p.Val819=)
|
|
|
NM_003640.5(ELP1):c.2457C>T (p.Val819=)
|
rs2131981786
|
|
NM_003640.5(ELP1):c.2466T>G (p.Ala822=)
|
rs1299382058
|
|
NM_003640.5(ELP1):c.2467A>G (p.Met823Val)
|
|
|
NM_003640.5(ELP1):c.2468_2469del (p.Met823fs)
|
|
|
NM_003640.5(ELP1):c.2474C>T (p.Ala825Val)
|
|
|
NM_003640.5(ELP1):c.2474dup (p.Val826fs)
|
|
|
NM_003640.5(ELP1):c.2475A>G (p.Ala825=)
|
|
|
NM_003640.5(ELP1):c.249G>C (p.Val83=)
|
|
|
NM_003640.5(ELP1):c.249G>T (p.Val83=)
|
|
|
NM_003640.5(ELP1):c.249del (p.Cys84fs)
|
|
|
NM_003640.5(ELP1):c.24G>A (p.Arg8=)
|
|
|
NM_003640.5(ELP1):c.2501+1G>A
|
rs2131981589
|
|
NM_003640.5(ELP1):c.2501+2T>C
|
|
|
NM_003640.5(ELP1):c.2501+3A>G
|
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
NM_003640.5(ELP1):c.2501+7A>G
|
|
|
NM_003640.5(ELP1):c.2502-5C>T
|
|
|
NM_003640.5(ELP1):c.2502-6C>T
|
rs2131981328
|
|
NM_003640.5(ELP1):c.2502-9T>C
|
rs2131981338
|
|
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)
|
rs1564084140
|
|
NM_003640.5(ELP1):c.2505C>T (p.Tyr835=)
|
rs1564084140
|
|
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser)
|
rs879253977
|
|
NM_003640.5(ELP1):c.2508C>T (p.Cys836=)
|
|
|
NM_003640.5(ELP1):c.2511A>G (p.Leu837=)
|
|
|
NM_003640.5(ELP1):c.2521dup (p.Thr841fs)
|
|
|
NM_003640.5(ELP1):c.2523A>G (p.Thr841=)
|
rs1587891082
|
|
NM_003640.5(ELP1):c.2528A>G (p.His843Arg)
|
rs1828577961
|
|
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
|
|
|
NM_003640.5(ELP1):c.2530G>T (p.Val844Leu)
|
rs754119022
|
|
NM_003640.5(ELP1):c.2532A>G (p.Val844=)
|
|
|
NM_003640.5(ELP1):c.2544C>G (p.Thr848=)
|
rs568514698
|
|
NM_003640.5(ELP1):c.2544C>T (p.Thr848=)
|
rs568514698
|
|
NM_003640.5(ELP1):c.254_255dup (p.Ala86fs)
|
rs1306800890
|
|
NM_003640.5(ELP1):c.254del (p.Val85fs)
|
|
|
NM_003640.5(ELP1):c.2552T>A (p.Leu851Gln)
|
|
|
NM_003640.5(ELP1):c.2562del (p.Leu855fs)
|
|
|
NM_003640.5(ELP1):c.2567A>C (p.Gln856Pro)
|
|
|
NM_003640.5(ELP1):c.2568A>G (p.Gln856=)
|
|
|
NM_003640.5(ELP1):c.2573T>C (p.Val858Ala)
|
rs2131981161
|
|
NM_003640.5(ELP1):c.2574A>T (p.Val858=)
|
|
|
NM_003640.5(ELP1):c.2576A>G (p.His859Arg)
|
|
|
NM_003640.5(ELP1):c.2576del (p.His859fs)
|
|
|
NM_003640.5(ELP1):c.2579A>G (p.Glu860Gly)
|
rs199796698
|
|
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)
|
|
|
NM_003640.5(ELP1):c.2587+11G>A
|
|
|
NM_003640.5(ELP1):c.2587+11G>T
|
|
|
NM_003640.5(ELP1):c.2587+16C>T
|
|
|
NM_003640.5(ELP1):c.2587+17A>G
|
|
|
NM_003640.5(ELP1):c.2587+18G>A
|
|
|
NM_003640.5(ELP1):c.2587+20G>A
|
|
|
NM_003640.5(ELP1):c.2587+2T>G
|
rs1554695299
|
|
NM_003640.5(ELP1):c.2587+8T>C
|
|
|
NM_003640.5(ELP1):c.2588-11_2588-10insAC
|
rs1587890642
|
|
NM_003640.5(ELP1):c.2588-17T>A
|
|
|
NM_003640.5(ELP1):c.2588-2A>G
|
|
|
NM_003640.5(ELP1):c.2588-5G>A
|
rs749793495
|
|
NM_003640.5(ELP1):c.2588-6T>C
|
rs1350078150
|
|
NM_003640.5(ELP1):c.2588-8A>G
|
rs2131980380
|
|
NM_003640.5(ELP1):c.2588-8A>T
|
rs2131980380
|
|
NM_003640.5(ELP1):c.2588-97A>G
|
rs2275626
|
|
NM_003640.5(ELP1):c.2588-9C>T
|
|
|
NM_003640.5(ELP1):c.2595T>G (p.Ala865=)
|
rs1302575693
|
|
NM_003640.5(ELP1):c.2596C>T (p.Pro866Ser)
|
|
|
NM_003640.5(ELP1):c.2610T>C (p.Asp870=)
|
rs2131980289
|
|
NM_003640.5(ELP1):c.2617A>G (p.Ser873Gly)
|
|
|
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs)
|
|
|
NM_003640.5(ELP1):c.2624_2625del (p.Glu875fs)
|
|
|
NM_003640.5(ELP1):c.2628G>A (p.Glu876=)
|
rs1222355789
|
|
NM_003640.5(ELP1):c.2640T>C (p.Tyr880=)
|
rs180790273
|
|
NM_003640.5(ELP1):c.2642T>A (p.Leu881Ter)
|
rs2131980225
|
|
NM_003640.5(ELP1):c.2649T>C (p.His883=)
|
rs2131980207
|
|
NM_003640.5(ELP1):c.2652G>A (p.Leu884=)
|
|
|
NM_003640.5(ELP1):c.2653G>T (p.Val885Leu)
|
|
|
NM_003640.5(ELP1):c.2657dup (p.Asp886fs)
|
|
|
NM_003640.5(ELP1):c.2658T>C (p.Asp886=)
|
|
|
NM_003640.5(ELP1):c.2664T>C (p.Asn888=)
|
rs2131980150
|
|
NM_003640.5(ELP1):c.2670A>G (p.Leu890=)
|
|
|
NM_003640.5(ELP1):c.2677del (p.His893fs)
|
|
|
NM_003640.5(ELP1):c.2682T>A (p.Ser894=)
|
rs1450438662
|
|
NM_003640.5(ELP1):c.2686G>T (p.Gly896Cys)
|
rs200590656
|
|
NM_003640.5(ELP1):c.2688C>G (p.Gly896=)
|
rs2131980110
|
|
NM_003640.5(ELP1):c.2688C>T (p.Gly896=)
|
|
|
NM_003640.5(ELP1):c.2691C>T (p.Thr897=)
|
|
|
NM_003640.5(ELP1):c.2697C>T (p.Asp899=)
|
|
|
NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs)
|
|
|
NM_003640.5(ELP1):c.26C>T (p.Thr9Ile)
|
|
|
NM_003640.5(ELP1):c.2700T>C (p.Phe900=)
|
rs2131980100
|
|
NM_003640.5(ELP1):c.2709C>T (p.Val903=)
|
|
|
NM_003640.5(ELP1):c.2714T>C (p.Met905Thr)
|
|
|
NM_003640.5(ELP1):c.2727G>A (p.Lys909=)
|
rs2131980049
|
|
NM_003640.5(ELP1):c.2729C>A (p.Ser910Ter)
|
|
|
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs)
|
|
|
NM_003640.5(ELP1):c.2736+12T>C
|
|
|
NM_003640.5(ELP1):c.2736+1G>A
|
|
|
NM_003640.5(ELP1):c.2736+1G>C
|
|
|
NM_003640.5(ELP1):c.2736+213A>G
|
rs10979598
|
|
NM_003640.5(ELP1):c.2736+3A>G
|
|
|
NM_003640.5(ELP1):c.2736+8G>C
|
|
|
NM_003640.5(ELP1):c.2737-10A>C
|
rs2131975523
|
|
NM_003640.5(ELP1):c.2737-15T>G
|
|
|
NM_003640.5(ELP1):c.2737-16_2737-14del
|
|
|
NM_003640.5(ELP1):c.2737-17A>G
|
|
|
NM_003640.5(ELP1):c.2737-18C>T
|
|
|
NM_003640.5(ELP1):c.2737-20C>G
|
|
|
NM_003640.5(ELP1):c.2737-8T>A
|
rs2131975517
|
|
NM_003640.5(ELP1):c.2737-9T>A
|
rs778622576
|
|
NM_003640.5(ELP1):c.2737-9dup
|
rs2131975511
|
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
NM_003640.5(ELP1):c.2743A>G (p.Lys915Glu)
|
rs749213608
|
|
NM_003640.5(ELP1):c.2759_2772del (p.Pro919_Phe920insTer)
|
|
|
NM_003640.5(ELP1):c.2761C>A (p.Leu921Ile)
|
|
|
NM_003640.5(ELP1):c.2761C>T (p.Leu921Phe)
|
rs540615950
|
|
NM_003640.5(ELP1):c.2765A>T (p.Asn922Ile)
|
|
|
NM_003640.5(ELP1):c.2768C>T (p.Thr923Ile)
|
|
|
NM_003640.5(ELP1):c.276C>T (p.Val92=)
|
rs2132049929
|
|
NM_003640.5(ELP1):c.2772T>A (p.Leu924=)
|
rs754622407
|
|
NM_003640.5(ELP1):c.2779del (p.Met927fs)
|
|
|
NM_003640.5(ELP1):c.2787T>C (p.Thr929=)
|
rs1564081993
|
|
NM_003640.5(ELP1):c.2793T>C (p.Tyr931=)
|
|
|
NM_003640.5(ELP1):c.2795del (p.Gln932fs)
|
|
|
NM_003640.5(ELP1):c.27C>G (p.Thr9=)
|
rs963698427
|
|
NM_003640.5(ELP1):c.2803A>G (p.Thr935Ala)
|
rs145484092
|
|
NM_003640.5(ELP1):c.2811C>T (p.Asp937=)
|
rs1439801646
|
|
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)
|
rs749052963
|
|
NM_003640.5(ELP1):c.2817C>T (p.Tyr939=)
|
|
|
NM_003640.5(ELP1):c.2818T>C (p.Leu940=)
|
rs1587887904
|
|
NM_003640.5(ELP1):c.2824C>A (p.Arg942=)
|
rs761911009
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.2825G>C (p.Arg942Pro)
|
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
NM_003640.5(ELP1):c.2828A>G (p.Tyr943Cys)
|
rs924119518
|
|
NM_003640.5(ELP1):c.2829T>C (p.Tyr943=)
|
rs2131975190
|
|
NM_003640.5(ELP1):c.282C>G (p.Leu94=)
|
|
|
NM_003640.5(ELP1):c.282C>T (p.Leu94=)
|
|
|
NM_003640.5(ELP1):c.2832A>G (p.Glu944=)
|
rs2131975176
|
|
NM_003640.5(ELP1):c.2835A>G (p.Lys945=)
|
|
|
NM_003640.5(ELP1):c.2844C>A (p.Gly948=)
|
|
|
NM_003640.5(ELP1):c.2844C>T (p.Gly948=)
|
|
|
NM_003640.5(ELP1):c.2850C>T (p.Leu950=)
|
|
|
NM_003640.5(ELP1):c.2852G>C (p.Ser951Thr)
|
|
|
NM_003640.5(ELP1):c.2854A>C (p.Lys952Gln)
|
|
|
NM_003640.5(ELP1):c.2855A>C (p.Lys952Thr)
|
|
|
NM_003640.5(ELP1):c.2859T>A (p.Cys953Ter)
|
rs762459906
|
|
NM_003640.5(ELP1):c.2860+16A>C
|
|
|
NM_003640.5(ELP1):c.2860+1G>A
|
|
|
NM_003640.5(ELP1):c.2860+1G>C
|
|
|
NM_003640.5(ELP1):c.2860+1_2860+7del
|
rs2131975101
|
|
NM_003640.5(ELP1):c.2860+242A>G
|
rs141502202
|
|
NM_003640.5(ELP1):c.2860+7G>A
|
rs1247714394
|
|
NM_003640.5(ELP1):c.2860+7G>C
|
rs1247714394
|
|
NM_003640.5(ELP1):c.2860+7G>T
|
|
|
NM_003640.5(ELP1):c.2860+8T>A
|
|
|
NM_003640.5(ELP1):c.2860+8T>C
|
|
|
NM_003640.5(ELP1):c.2860+8dup
|
rs2131975087
|
|
NM_003640.5(ELP1):c.2860_2860+1delinsTA
|
|
|
NM_003640.5(ELP1):c.2861-15A>G
|
|
|
NM_003640.5(ELP1):c.2861-16A>G
|
|
|
NM_003640.5(ELP1):c.2861-8del
|
|
|
NM_003640.5(ELP1):c.2864C>G (p.Pro955Arg)
|
rs758112773
|
|
NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs)
|
|
|
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe)
|
rs1828405751
|
|
NM_003640.5(ELP1):c.2891del (p.Asn963_Leu964insTer)
|
|
|
NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs)
|
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_003640.5(ELP1):c.28C>T (p.Leu10=)
|
rs2132053050
|
|
NM_003640.5(ELP1):c.2901T>C (p.Asp967=)
|
rs2131973415
|
|
NM_003640.5(ELP1):c.2904A>G (p.Lys968=)
|
rs2131973405
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2910G>A (p.Leu970=)
|
|
|
NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs)
|
|
|
NM_003640.5(ELP1):c.2913T>C (p.Tyr971=)
|
rs1312848493
|
|
NM_003640.5(ELP1):c.2917G>A (p.Glu973Lys)
|
|
|
NM_003640.5(ELP1):c.2922T>C (p.Ala974=)
|
rs1828403034
|
|
NM_003640.5(ELP1):c.2925G>A (p.Leu975=)
|
rs1828402699
|
|
NM_003640.5(ELP1):c.2925G>C (p.Leu975=)
|
|
|
NM_003640.5(ELP1):c.2928G>A (p.Lys976=)
|
|
|
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)
|
|
|
NM_003640.5(ELP1):c.2931A>G (p.Leu977=)
|
rs1587886832
|
|
NM_003640.5(ELP1):c.2936C>T (p.Ser979Leu)
|
rs2131973288
|
|
NM_003640.5(ELP1):c.2943C>T (p.Ser981=)
|
rs1013466379
|
|
NM_003640.5(ELP1):c.2949A>G (p.Gln983=)
|
rs2131973252
|
|
NM_003640.5(ELP1):c.294C>T (p.Ser98=)
|
|
|
NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)
|
|
|
NM_003640.5(ELP1):c.2958+14G>T
|
|
|
NM_003640.5(ELP1):c.2958+18A>G
|
|
|
NM_003640.5(ELP1):c.2958+19T>A
|
rs775117814
|
|
NM_003640.5(ELP1):c.2958+1G>C
|
rs1239081703
|
|
NM_003640.5(ELP1):c.2958+3A>G
|
rs1828401309
|
|
NM_003640.5(ELP1):c.2958+5G>A
|
|
|
NM_003640.5(ELP1):c.2958+7G>A
|
rs2131973199
|
|
NM_003640.5(ELP1):c.2959-10C>T
|
|
|
NM_003640.5(ELP1):c.2959-20T>C
|
|
|
NM_003640.5(ELP1):c.2960A>T (p.Asp987Val)
|
|
|
NM_003640.5(ELP1):c.2969T>C (p.Ile990Thr)
|
|
|
NM_003640.5(ELP1):c.2970T>C (p.Ile990=)
|
|
|
NM_003640.5(ELP1):c.2976T>C (p.Tyr992=)
|
rs1587885173
|
|
NM_003640.5(ELP1):c.297A>G (p.Thr99=)
|
rs1829937351
|
|
NM_003640.5(ELP1):c.297A>T (p.Thr99=)
|
|
|
NM_003640.5(ELP1):c.2985C>T (p.His995=)
|
|
|
NM_003640.5(ELP1):c.2988G>A (p.Leu996=)
|
rs1254678537
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del)
|
rs1376166738
|
|
NM_003640.5(ELP1):c.2995G>A (p.Glu999Lys)
|
|
|
NM_003640.5(ELP1):c.2997G>A (p.Glu999=)
|
rs1288718353
|
|
NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr)
|
rs144959233
|
|
NM_003640.5(ELP1):c.3005A>G (p.Tyr1002Cys)
|
|
|
NM_003640.5(ELP1):c.300A>T (p.Gln100His)
|
|
|
NM_003640.5(ELP1):c.3011C>T (p.Pro1004Leu)
|
|
|
NM_003640.5(ELP1):c.3015G>T (p.Ala1005=)
|
|
|
NM_003640.5(ELP1):c.3018G>A (p.Gly1006=)
|
rs2131970094
|
|
NM_003640.5(ELP1):c.3021C>T (p.Leu1007=)
|
rs755469058
|
|
NM_003640.5(ELP1):c.303+10A>C
|
rs1587926781
|
|
NM_003640.5(ELP1):c.303+11G>T
|
|
|
NM_003640.5(ELP1):c.303+12A>G
|
|
|
NM_003640.5(ELP1):c.303+15C>G
|
|
|
NM_003640.5(ELP1):c.303+16C>T
|
|
|
NM_003640.5(ELP1):c.303+17A>C
|
|
|
NM_003640.5(ELP1):c.303+1G>A
|
|
|
NM_003640.5(ELP1):c.303+5G>C
|
|
|
NM_003640.5(ELP1):c.303+7G>A
|
|
|
NM_003640.5(ELP1):c.3030C>G (p.Ala1010=)
|
|
|
NM_003640.5(ELP1):c.3035G>A (p.Cys1012Tyr)
|
|
|
NM_003640.5(ELP1):c.304-11C>G
|
|
|
NM_003640.5(ELP1):c.304-11del
|
|
|
NM_003640.5(ELP1):c.304-2A>C
|
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.304-9C>T
|
rs538870297
|
|
NM_003640.5(ELP1):c.304-9_304-8del
|
rs769049998
|
|
NM_003640.5(ELP1):c.3051A>G (p.Lys1017=)
|
|
|
NM_003640.5(ELP1):c.3054T>A (p.Ala1018=)
|
|
|
NM_003640.5(ELP1):c.3056T>C (p.Leu1019Pro)
|
|
|
NM_003640.5(ELP1):c.3057C>G (p.Leu1019=)
|
|
|
NM_003640.5(ELP1):c.3057C>T (p.Leu1019=)
|
rs781537201
|
|
NM_003640.5(ELP1):c.3059C>A (p.Ser1020Ter)
|
|
|
NM_003640.5(ELP1):c.3060dup (p.Ala1021fs)
|
rs151101843
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
NM_003640.5(ELP1):c.3062C>T (p.Ala1021Val)
|
rs1226103389
|
|
NM_003640.5(ELP1):c.3067C>T (p.Leu1023=)
|
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3069G>T (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs)
|
|
|
NM_003640.5(ELP1):c.3071C>G (p.Thr1024Arg)
|
|
|
NM_003640.5(ELP1):c.3072A>C (p.Thr1024=)
|
|
|
NM_003640.5(ELP1):c.3075T>C (p.Cys1025=)
|
|
|
NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)
|
rs2132045613
|
|
NM_003640.5(ELP1):c.3087G>A (p.Lys1029=)
|
rs757486866
|
|
NM_003640.5(ELP1):c.3093C>G (p.Ala1031=)
|
rs1587884867
|
|
NM_003640.5(ELP1):c.3101T>A (p.Val1034Glu)
|
|
|
NM_003640.5(ELP1):c.3104C>T (p.Ala1035Val)
|
|
|
NM_003640.5(ELP1):c.3105A>G (p.Ala1035=)
|
|
|
NM_003640.5(ELP1):c.3107C>G (p.Ala1036Gly)
|
rs766016072
|
|
NM_003640.5(ELP1):c.3108C>A (p.Ala1036=)
|
|
|
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs)
|
|
|
NM_003640.5(ELP1):c.3120T>C (p.Phe1040=)
|
rs762300112
|
|
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn)
|
rs1554694121
|
|
NM_003640.5(ELP1):c.3128A>G (p.Asp1043Gly)
|
rs1388335304
|
|
NM_003640.5(ELP1):c.312T>C (p.Cys104=)
|
rs1291760879
|
|
NM_003640.5(ELP1):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_003640.5(ELP1):c.3133C>T (p.Leu1045=)
|
|
|
NM_003640.5(ELP1):c.3136G>T (p.Val1046Leu)
|
|
|
NM_003640.5(ELP1):c.313G>T (p.Val105Phe)
|
rs764767995
|
|
NM_003640.5(ELP1):c.3141C>T (p.Gly1047=)
|
|
|
NM_003640.5(ELP1):c.3145G>C (p.Gly1049Arg)
|
rs761500263
|
|
NM_003640.5(ELP1):c.3160+12C>A
|
|
|
NM_003640.5(ELP1):c.3160+1G>T
|
rs2131969608
|
|
NM_003640.5(ELP1):c.3161-4A>G
|
|
|
NM_003640.5(ELP1):c.3163A>C (p.Lys1055Gln)
|
|
|
NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter)
|
rs1828239449
|
|
NM_003640.5(ELP1):c.3191A>T (p.Asp1064Val)
|
|
|
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
|
rs972475636
|
|
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=)
|
rs758321016
|
|
NM_003640.5(ELP1):c.3195G>C (p.Ala1065=)
|
|
|
NM_003640.5(ELP1):c.3195G>T (p.Ala1065=)
|
rs758321016
|
|
NM_003640.5(ELP1):c.31G>T (p.Glu11Ter)
|
|
|
NM_003640.5(ELP1):c.3200dup (p.Met1067fs)
|
|
|
NM_003640.5(ELP1):c.3209A>G (p.Glu1070Gly)
|
rs376878918
|
|
NM_003640.5(ELP1):c.3214_3215delinsAT (p.Cys1072Ile)
|
rs2131966122
|
|
NM_003640.5(ELP1):c.3215G>A (p.Cys1072Tyr)
|
|
|
NM_003640.5(ELP1):c.3215G>T (p.Cys1072Phe)
|
|
|
NM_003640.5(ELP1):c.3216_3217del (p.Ala1073fs)
|
|
|
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs)
|
|
|
NM_003640.5(ELP1):c.3222+16C>T
|
|
|
NM_003640.5(ELP1):c.3222+17C>A
|
|
|
NM_003640.5(ELP1):c.3222+17C>T
|
|
|
NM_003640.5(ELP1):c.3222+205T>G
|
rs3780507
|
|
NM_003640.5(ELP1):c.3222+8C>T
|
rs1159708225
|
|
NM_003640.5(ELP1):c.3223-15C>G
|
|
|
NM_003640.5(ELP1):c.3223-18T>G
|
|
|
NM_003640.5(ELP1):c.3223-5G>A
|
rs2118947473
|
|
NM_003640.5(ELP1):c.3223-5G>T
|
|
|
NM_003640.5(ELP1):c.3224A>G (p.Asp1075Gly)
|
rs1827955472
|
|
NM_003640.5(ELP1):c.3228T>C (p.Tyr1076=)
|
|
|
NM_003640.5(ELP1):c.3235G>A (p.Ala1079Thr)
|
|
|
NM_003640.5(ELP1):c.3237T>G (p.Ala1079=)
|
rs2118947424
|
|
NM_003640.5(ELP1):c.3240G>T (p.Val1080=)
|
|
|
NM_003640.5(ELP1):c.3246G>A (p.Leu1082=)
|
|
|
NM_003640.5(ELP1):c.3247C>T (p.Leu1083=)
|
rs1416245963
|
|
NM_003640.5(ELP1):c.3252A>G (p.Leu1084=)
|
rs1474997133
|
|
NM_003640.5(ELP1):c.3252del (p.Glu1085fs)
|
|
|
NM_003640.5(ELP1):c.3255A>G (p.Glu1085=)
|
rs2118947292
|
|
NM_003640.5(ELP1):c.3258A>T (p.Gly1086=)
|
rs2118947272
|
|
NM_003640.5(ELP1):c.3277T>C (p.Leu1093=)
|
rs2118947177
|
|
NM_003640.5(ELP1):c.3280A>C (p.Arg1094=)
|
|
|
NM_003640.5(ELP1):c.3283C>G (p.Leu1095Val)
|
|
|
NM_003640.5(ELP1):c.3284T>C (p.Leu1095Pro)
|
|
|
NM_003640.5(ELP1):c.3285+11T>G
|
|
|
NM_003640.5(ELP1):c.3285+15A>G
|
|
|
NM_003640.5(ELP1):c.3285+19C>T
|
|
|
NM_003640.5(ELP1):c.3285+1G>C
|
rs1287123881
|
|
NM_003640.5(ELP1):c.3285+2T>C
|
rs1554692181
|
|
NM_003640.5(ELP1):c.3286-14G>T
|
|
|
NM_003640.5(ELP1):c.3286-16G>A
|
|
|
NM_003640.5(ELP1):c.3286-17del
|
|
|
NM_003640.5(ELP1):c.3286-1G>A
|
|
|
NM_003640.5(ELP1):c.3286-1G>C
|
|
|
NM_003640.5(ELP1):c.3286-1G>T
|
rs1159691474
|
|
NM_003640.5(ELP1):c.3286-20T>C
|
|
|
NM_003640.5(ELP1):c.3291C>G (p.Tyr1097Ter)
|
rs924743948
|
|
NM_003640.5(ELP1):c.3294A>C (p.Lys1098Asn)
|
|
|
NM_003640.5(ELP1):c.3296A>T (p.Tyr1099Phe)
|
rs1455391652
|
|
NM_003640.5(ELP1):c.3304C>G (p.Leu1102Val)
|
|
|
NM_003640.5(ELP1):c.3304C>T (p.Leu1102=)
|
rs2118946145
|
|
NM_003640.5(ELP1):c.3313A>G (p.Ile1105Val)
|
rs2118946082
|
|
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs)
|
|
|
NM_003640.5(ELP1):c.3321C>A (p.Thr1107=)
|
|
|
NM_003640.5(ELP1):c.3321C>G (p.Thr1107=)
|
|
|
NM_003640.5(ELP1):c.3322A>G (p.Asn1108Asp)
|
rs2118946035
|
|
NM_003640.5(ELP1):c.3326T>C (p.Val1109Ala)
|
rs1827936975
|
|
NM_003640.5(ELP1):c.3330G>A (p.Lys1110=)
|
rs1353763056
|
|
NM_003640.5(ELP1):c.3336C>T (p.Ser1112=)
|
rs776561246
|
|
NM_003640.5(ELP1):c.3337A>C (p.Ile1113Leu)
|
rs763262745
|
|
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)
|
rs906880093
|
|
NM_003640.5(ELP1):c.3346+19A>G
|
|
|
NM_003640.5(ELP1):c.3346+1G>A
|
rs760774999
|
|
NM_003640.5(ELP1):c.3346+3G>A
|
|
|
NM_003640.5(ELP1):c.3347-10G>T
|
rs2118941197
|
|
NM_003640.5(ELP1):c.3347-6C>T
|
rs1587873316
|
|
NM_003640.5(ELP1):c.3348C>A (p.Ala1116=)
|
rs2118941184
|
|
NM_003640.5(ELP1):c.3357T>G (p.Asn1119Lys)
|
|
|
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup)
|
rs1554691848
|
|
NM_003640.5(ELP1):c.3359A>G (p.Tyr1120Cys)
|
|
|
NM_003640.5(ELP1):c.335T>A (p.Ile112Asn)
|
|
|
NM_003640.5(ELP1):c.3363G>C (p.Met1121Ile)
|
rs910335280
|
|
NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs)
|
|
|
NM_003640.5(ELP1):c.3366A>G (p.Ala1122=)
|
|
|
NM_003640.5(ELP1):c.3368T>C (p.Phe1123Ser)
|
rs1587873285
|
|
NM_003640.5(ELP1):c.3375C>G (p.Asp1125Glu)
|
rs753992200
|
|
NM_003640.5(ELP1):c.3378dup (p.Gln1127fs)
|
rs1302114356
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
NM_003640.5(ELP1):c.3395G>T (p.Ser1132Ile)
|
|
|
NM_003640.5(ELP1):c.3397C>A (p.Arg1133Ser)
|
|
|
NM_003640.5(ELP1):c.33G>A (p.Glu11=)
|
rs2132053041
|
|
NM_003640.5(ELP1):c.3408del (p.Lys1136fs)
|
rs1564072540
|
|
NM_003640.5(ELP1):c.3417G>A (p.Leu1139=)
|
rs202080366
|
|
NM_003640.5(ELP1):c.3432C>A (p.Leu1144=)
|
rs2118940780
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
NM_003640.5(ELP1):c.3438G>A (p.Glu1146=)
|
rs931836170
|
|
NM_003640.5(ELP1):c.343_344del (p.Met115fs)
|
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
NM_003640.5(ELP1):c.3457C>T (p.Leu1153=)
|
rs1587873138
|
|
NM_003640.5(ELP1):c.3460+10_3460+24del
|
rs1564072432
|
|
NM_003640.5(ELP1):c.3460+13G>C
|
|
|
NM_003640.5(ELP1):c.3460+13G>T
|
rs149897637
|
|
NM_003640.5(ELP1):c.3460+14T>C
|
|
|
NM_003640.5(ELP1):c.3460+15G>A
|
|
|
NM_003640.5(ELP1):c.3460+1G>A
|
rs1478450302
|
|
NM_003640.5(ELP1):c.3460+20C>A
|
|
|
NM_003640.5(ELP1):c.3460+4_3460+11dup
|
|
|
NM_003640.5(ELP1):c.3460+9C>T
|
|
|
NM_003640.5(ELP1):c.3461-13T>C
|
|
|
NM_003640.5(ELP1):c.3461-14T>C
|
|
|
NM_003640.5(ELP1):c.3461-16G>C
|
|
|
NM_003640.5(ELP1):c.3461-2A>G
|
|
|
NM_003640.5(ELP1):c.3461-6T>C
|
|
|
NM_003640.5(ELP1):c.3461-78_3461-75del
|
rs10550153
|
|
NM_003640.5(ELP1):c.3461-7T>G
|
|
|
NM_003640.5(ELP1):c.3461-9C>T
|
rs995554626
|
|
NM_003640.5(ELP1):c.3461-9_3461-7del
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
NM_003640.5(ELP1):c.3468G>A (p.Glu1156=)
|
rs1236050758
|
|
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile)
|
rs886063346
|
|
NM_003640.5(ELP1):c.3474C>A (p.Pro1158=)
|
|
|
NM_003640.5(ELP1):c.3475dup (p.His1159fs)
|
rs2118938912
|
|
NM_003640.5(ELP1):c.3482A>G (p.Gln1161Arg)
|
|
|
NM_003640.5(ELP1):c.3486G>A (p.Glu1162=)
|
rs1179560945
|
|
NM_003640.5(ELP1):c.3489A>G (p.Ser1163=)
|
|
|
NM_003640.5(ELP1):c.348_351dup (p.Ser118fs)
|
rs1587924452
|
|
NM_003640.5(ELP1):c.3490G>A (p.Asp1164Asn)
|
rs1198624688
|
|
NM_003640.5(ELP1):c.3490G>C (p.Asp1164His)
|
|
|
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe)
|
rs144301886
|
|
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=)
|
rs1827834154
|
|
NM_003640.5(ELP1):c.3498C>G (p.Phe1166Leu)
|
|
|
NM_003640.5(ELP1):c.3498C>T (p.Phe1166=)
|
rs764005359
|
|
NM_003640.5(ELP1):c.349del (p.Trp117fs)
|
rs1587924458
|
|
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)
|
|
|
NM_003640.5(ELP1):c.3510del (p.Ser1170fs)
|
|
|
NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs)
|
|
|
NM_003640.5(ELP1):c.3517G>A (p.Val1173Met)
|
|
|
NM_003640.5(ELP1):c.3521G>A (p.Ser1174Asn)
|
rs143008686
|
|
NM_003640.5(ELP1):c.3525C>T (p.Gly1175=)
|
rs886288391
|
|
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs)
|
|
|
NM_003640.5(ELP1):c.3537T>C (p.Ser1179=)
|
rs773617899
|
|
NM_003640.5(ELP1):c.3540C>A (p.Gly1180=)
|
|
|
NM_003640.5(ELP1):c.3561C>G (p.Ser1187=)
|
rs781284578
|
|
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=)
|
rs747272918
|
|
NM_003640.5(ELP1):c.3572+10A>G
|
|
|
NM_003640.5(ELP1):c.3572+11C>G
|
|
|
NM_003640.5(ELP1):c.3572+12A>G
|
|
|
NM_003640.5(ELP1):c.3572+12A>T
|
rs1055164302
|
|
NM_003640.5(ELP1):c.3572+14dup
|
|
|
NM_003640.5(ELP1):c.3572+15G>A
|
|
|
NM_003640.5(ELP1):c.3572+19C>G
|
|
|
NM_003640.5(ELP1):c.3572+20A>G
|
|
|
NM_003640.5(ELP1):c.3572+4C>T
|
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.3572+5G>C
|
rs773132143
|
|
NM_003640.5(ELP1):c.3572+5G>T
|
rs773132143
|
|
NM_003640.5(ELP1):c.3572C>T (p.Ala1191Val)
|
|
|
NM_003640.5(ELP1):c.3573-10T>C
|
|
|
NM_003640.5(ELP1):c.3573-14_3573-13del
|
|
|
NM_003640.5(ELP1):c.3573-16G>A
|
|
|
NM_003640.5(ELP1):c.3573-1G>A
|
rs2118936334
|
|
NM_003640.5(ELP1):c.3573-20A>G
|
|
|
NM_003640.5(ELP1):c.3573-6T>C
|
|
|
NM_003640.5(ELP1):c.3573-9T>C
|
|
|
NM_003640.5(ELP1):c.3578del (p.Ser1193fs)
|
|
|
NM_003640.5(ELP1):c.357T>C (p.Pro119=)
|
rs761020794
|
|
NM_003640.5(ELP1):c.3580T>C (p.Ser1194Pro)
|
rs2118936313
|
|
NM_003640.5(ELP1):c.3586A>G (p.Asn1196Asp)
|
rs1564071274
|
|
NM_003640.5(ELP1):c.3589C>T (p.Arg1197Cys)
|
rs370450007
|
|
NM_003640.5(ELP1):c.3590_3591delinsTA (p.Arg1197Leu)
|
|
|
NM_003640.5(ELP1):c.3592C>A (p.Arg1198=)
|
|
|
NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro)
|
rs200322331
|
|
NM_003640.5(ELP1):c.3597A>T (p.Lys1199Asn)
|
rs1827797013
|
|
NM_003640.5(ELP1):c.3599C>T (p.Ala1200Val)
|
|
|
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly)
|
rs879254229
|
|
NM_003640.5(ELP1):c.3600G>C (p.Ala1200=)
|
|
|
NM_003640.5(ELP1):c.3604C>A (p.Arg1202=)
|
|
|
NM_003640.5(ELP1):c.3605G>A (p.Arg1202Gln)
|
|
|
NM_003640.5(ELP1):c.3606G>A (p.Arg1202=)
|
|
|
NM_003640.5(ELP1):c.3606G>C (p.Arg1202=)
|
|
|
NM_003640.5(ELP1):c.3608del (p.Lys1203fs)
|
|
|
NM_003640.5(ELP1):c.3609G>T (p.Lys1203Asn)
|
rs2118936145
|
|
NM_003640.5(ELP1):c.3611A>G (p.Lys1204Arg)
|
|
|
NM_003640.5(ELP1):c.361C>T (p.Gln121Ter)
|
|
|
NM_003640.5(ELP1):c.3622A>T (p.Lys1208Ter)
|
|
|
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del)
|
rs1453695293
|
|
NM_003640.5(ELP1):c.3624del (p.Glu1209fs)
|
|
|
NM_003640.5(ELP1):c.3631_3634dup (p.Pro1212fs)
|
|
|
NM_003640.5(ELP1):c.3635C>T (p.Pro1212Leu)
|
|
|
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=)
|
rs780520998
|
|
NM_003640.5(ELP1):c.3643G>A (p.Asp1215Asn)
|
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
NM_003640.5(ELP1):c.3648G>C (p.Leu1216=)
|
|
|
NM_003640.5(ELP1):c.3649G>A (p.Ala1217Thr)
|
rs1827793180
|
|
NM_003640.5(ELP1):c.3650C>G (p.Ala1217Gly)
|
rs1827793018
|
|
NM_003640.5(ELP1):c.3651C>T (p.Ala1217=)
|
|
|
NM_003640.5(ELP1):c.3661G>A (p.Ala1221Thr)
|
|
|
NM_003640.5(ELP1):c.3666G>T (p.Leu1222=)
|
rs2118935925
|
|
NM_003640.5(ELP1):c.3669T>C (p.Ser1223=)
|
|
|
NM_003640.5(ELP1):c.3672A>G (p.Glu1224=)
|
rs2118935891
|
|
NM_003640.5(ELP1):c.3673GTG[1] (p.Val1226del)
|
rs1306291143
|
|
NM_003640.5(ELP1):c.3675G>A (p.Val1225=)
|
|
|
NM_003640.5(ELP1):c.3678G>A (p.Val1226=)
|
rs1207014363
|
|
NM_003640.5(ELP1):c.367C>T (p.Leu123=)
|
rs2132045470
|
|
NM_003640.5(ELP1):c.3687T>G (p.Thr1229=)
|
rs1301314034
|
|
NM_003640.5(ELP1):c.3688G>T (p.Glu1230Ter)
|
rs764936574
|
|
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs)
|
|
|
NM_003640.5(ELP1):c.369G>T (p.Leu123=)
|
|
|
NM_003640.5(ELP1):c.3700+13T>G
|
|
|
NM_003640.5(ELP1):c.3700+18A>G
|
|
|
NM_003640.5(ELP1):c.3700+3A>G
|
|
|
NM_003640.5(ELP1):c.3701-17A>C
|
|
|
NM_003640.5(ELP1):c.3701-18C>G
|
|
|
NM_003640.5(ELP1):c.3701-19T>G
|
|
|
NM_003640.5(ELP1):c.3701-1G>A
|
rs1554691572
|
|
NM_003640.5(ELP1):c.3701-2A>G
|
|
|
NM_003640.5(ELP1):c.3701-4C>G
|
rs2118934562
|
|
NM_003640.5(ELP1):c.3701-4C>T
|
rs2118934562
|
|
NM_003640.5(ELP1):c.3701-6C>T
|
rs148535504
|
|
NM_003640.5(ELP1):c.3705A>G (p.Glu1235=)
|
rs574431100
|
|
NM_003640.5(ELP1):c.3707T>C (p.Val1236Ala)
|
|
|
NM_003640.5(ELP1):c.3708A>C (p.Val1236=)
|
rs368761085
|
|
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=)
|
rs1564070677
|
|
NM_003640.5(ELP1):c.3714dup (p.Ile1239fs)
|
rs1827772289
|
|
NM_003640.5(ELP1):c.3715A>G (p.Ile1239Val)
|
|
|
NM_003640.5(ELP1):c.3717T>C (p.Ile1239=)
|
|
|
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)
|
|
|
NM_003640.5(ELP1):c.3726A>G (p.Val1242=)
|
|
|
NM_003640.5(ELP1):c.3732T>C (p.Phe1244=)
|
rs2118934404
|
|
NM_003640.5(ELP1):c.3737T>C (p.Phe1246Ser)
|
|
|
NM_003640.5(ELP1):c.3739G>A (p.Glu1247Lys)
|
|
|
NM_003640.5(ELP1):c.374T>C (p.Leu125Pro)
|
|
|
NM_003640.5(ELP1):c.3756A>G (p.Gly1252=)
|
|
|
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly)
|
rs760084617
|
|
NM_003640.5(ELP1):c.3762A>G (p.Glu1254=)
|
rs2118934304
|
|
NM_003640.5(ELP1):c.3765dup (p.Gln1256fs)
|
rs2118934288
|
|
NM_003640.5(ELP1):c.3768G>A (p.Gln1256=)
|
rs2118934270
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
NM_003640.5(ELP1):c.3771G>A (p.Lys1257=)
|
rs2118934242
|
|
NM_003640.5(ELP1):c.3774C>T (p.Ala1258=)
|
rs2118934221
|
|
NM_003640.5(ELP1):c.3779A>T (p.Glu1260Val)
|
rs1827768156
|
|
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs)
|
rs1554691544
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
NM_003640.5(ELP1):c.3792G>A (p.Gln1264=)
|
|
|
NM_003640.5(ELP1):c.3807A>G (p.Ser1269=)
|
rs2118934095
|
|
NM_003640.5(ELP1):c.3808C>G (p.Leu1270Val)
|
|
|
NM_003640.5(ELP1):c.3822G>A (p.Trp1274Ter)
|
rs543759021
|
|
NM_003640.5(ELP1):c.3825T>A (p.Thr1275=)
|
rs1234173300
|
|
NM_003640.5(ELP1):c.3828T>C (p.Leu1276=)
|
|
|
NM_003640.5(ELP1):c.3829dup (p.Thr1277fs)
|
|
|
NM_003640.5(ELP1):c.3831T>C (p.Thr1277=)
|
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
NM_003640.5(ELP1):c.3834C>G (p.Tyr1278Ter)
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
NM_003640.5(ELP1):c.3846A>T (p.Ser1282=)
|
|
|
NM_003640.5(ELP1):c.3849T>C (p.Ala1283=)
|
rs2118933916
|
|
NM_003640.5(ELP1):c.385+10T>A
|
rs990666217
|
|
NM_003640.5(ELP1):c.385+13C>A
|
|
|
NM_003640.5(ELP1):c.385+14T>C
|
|
|
NM_003640.5(ELP1):c.385+15G>C
|
|
|
NM_003640.5(ELP1):c.385+1G>A
|
rs1554703061
|
|
NM_003640.5(ELP1):c.385+6C>G
|
|
|
NM_003640.5(ELP1):c.385+8del
|
rs2132045394
|
|
NM_003640.5(ELP1):c.3852C>A (p.Thr1284=)
|
|
|
NM_003640.5(ELP1):c.3852C>T (p.Thr1284=)
|
|
|
NM_003640.5(ELP1):c.3855+12C>T
|
|
|
NM_003640.5(ELP1):c.3855+13del
|
|
|
NM_003640.5(ELP1):c.3855+16G>A
|
|
|
NM_003640.5(ELP1):c.3855+17A>T
|
|
|
NM_003640.5(ELP1):c.3855+19G>T
|
rs113767921
|
|
NM_003640.5(ELP1):c.3855+1G>T
|
rs1827764134
|
|
NM_003640.5(ELP1):c.3855+2T>G
|
rs2118933859
|
|
NM_003640.5(ELP1):c.3855+8_3855+9del
|
|
|
NM_003640.5(ELP1):c.3855+9T>G
|
rs533673443
|
|
NM_003640.5(ELP1):c.3856-13A>G
|
|
|
NM_003640.5(ELP1):c.3856-14dup
|
rs1554737879
|
|
NM_003640.5(ELP1):c.3856-18A>G
|
|
|
NM_003640.5(ELP1):c.3856-1G>A
|
|
|
NM_003640.5(ELP1):c.3856-20A>G
|
|
|
NM_003640.5(ELP1):c.386-12T>C
|
|
|
NM_003640.5(ELP1):c.386-15_386-12del
|
|
|
NM_003640.5(ELP1):c.386-17G>A
|
|
|
NM_003640.5(ELP1):c.386-2A>C
|
rs1554702880
|
|
NM_003640.5(ELP1):c.386-5C>G
|
|
|
NM_003640.5(ELP1):c.3865C>T (p.Pro1289Ser)
|
|
|
NM_003640.5(ELP1):c.3866_3870del (p.Pro1289fs)
|
rs2118925108
|
|
NM_003640.5(ELP1):c.3867C>T (p.Pro1289=)
|
|
|
NM_003640.5(ELP1):c.3870T>C (p.Asn1290=)
|
|
|
NM_003640.5(ELP1):c.3872C>G (p.Ser1291Cys)
|
rs1827646757
|
|
NM_003640.5(ELP1):c.3874A>C (p.Thr1292Pro)
|
|
|
NM_003640.5(ELP1):c.3876T>A (p.Thr1292=)
|
|
|
NM_003640.5(ELP1):c.3880A>G (p.Asn1294Asp)
|
|
|
NM_003640.5(ELP1):c.3894A>G (p.Ala1298=)
|
rs1827644596
|
|
NM_003640.5(ELP1):c.3897T>G (p.Ser1299=)
|
|
|
NM_003640.5(ELP1):c.3900T>C (p.Tyr1300=)
|
rs1425768979
|
|
NM_003640.5(ELP1):c.3901C>G (p.Gln1301Glu)
|
|
|
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg)
|
rs1554737851
|
|
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter)
|
rs780649768
|
|
NM_003640.5(ELP1):c.3925G>T (p.Val1309Phe)
|
|
|
NM_003640.5(ELP1):c.3928C>G (p.Leu1310Val)
|
|
|
NM_003640.5(ELP1):c.3931+16C>T
|
|
|
NM_003640.5(ELP1):c.3931+17A>C
|
|
|
NM_003640.5(ELP1):c.3931+17A>G
|
|
|
NM_003640.5(ELP1):c.3931+1G>A
|
rs143674809
|
|
NM_003640.5(ELP1):c.3931+20del
|
rs758104586
|
|
NM_003640.5(ELP1):c.3931+3_3931+6del
|
rs1827641020
|
|
NM_003640.5(ELP1):c.3932-14T>C
|
|
|
NM_003640.5(ELP1):c.3932-4T>C
|
rs2118907255
|
|
NM_003640.5(ELP1):c.3932-5T>A
|
|
|
NM_003640.5(ELP1):c.3932-7C>G
|
|
|
NM_003640.5(ELP1):c.3932-7C>T
|
rs1474178691
|
|
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)
|
rs1554735745
|
|
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter)
|
rs1554735745
|
|
NM_003640.5(ELP1):c.3943T>C (p.Phe1315Leu)
|
|
|
NM_003640.5(ELP1):c.3945T>C (p.Phe1315=)
|
|
|
NM_003640.5(ELP1):c.3951A>T (p.Pro1317=)
|
rs1212162839
|
|
NM_003640.5(ELP1):c.3955A>G (p.Lys1319Glu)
|
|
|
NM_003640.5(ELP1):c.3956del (p.Lys1319fs)
|
rs2118907171
|
|
NM_003640.5(ELP1):c.3960C>T (p.Ile1320=)
|
rs1827342714
|
|
NM_003640.5(ELP1):c.396C>T (p.Thr132=)
|
|
|
NM_003640.5(ELP1):c.3972C>G (p.Thr1324=)
|
rs1296938074
|
|
NM_003640.5(ELP1):c.3975G>A (p.Gln1325=)
|
rs1235352918
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.3979A>T (p.Lys1327Ter)
|
|
|
NM_003640.5(ELP1):c.3984G>A (p.Leu1328=)
|
rs2118907092
|
|
NM_003640.5(ELP1):c.3988C>T (p.Leu1330=)
|
rs2118907072
|
|
NM_003640.5(ELP1):c.3996C>T (p.Asp1332=)
|
rs2118907045
|
|
NM_003640.5(ELP1):c.432G>A (p.Leu144=)
|
rs1456280404
|
|
NM_003640.5(ELP1):c.432G>C (p.Leu144=)
|
rs1456280404
|
|
NM_003640.5(ELP1):c.432G>T (p.Leu144=)
|
|
|
NM_003640.5(ELP1):c.438G>A (p.Gln146=)
|
rs2132043832
|
|
NM_003640.5(ELP1):c.452A>T (p.Asp151Val)
|
rs1829829317
|
|
NM_003640.5(ELP1):c.461G>C (p.Gly154Ala)
|
rs2132043743
|
|
NM_003640.5(ELP1):c.466+10G>A
|
rs2132043675
|
|
NM_003640.5(ELP1):c.466+10G>C
|
|
|
NM_003640.5(ELP1):c.466+11C>G
|
|
|
NM_003640.5(ELP1):c.466+13T>C
|
|
|
NM_003640.5(ELP1):c.466+20A>G
|
|
|
NM_003640.5(ELP1):c.466+2T>G
|
|
|
NM_003640.5(ELP1):c.466+5G>C
|
rs745386940
|
|
NM_003640.5(ELP1):c.466+8T>A
|
|
|
NM_003640.5(ELP1):c.466+8T>C
|
|
|
NM_003640.5(ELP1):c.467-10del
|
rs750475941
|
|
NM_003640.5(ELP1):c.467-12A>T
|
rs1300230302
|
|
NM_003640.5(ELP1):c.467-4G>A
|
|
|
NM_003640.5(ELP1):c.474dup (p.Ile159fs)
|
rs1829700782
|
|
NM_003640.5(ELP1):c.477C>T (p.Ile159=)
|
rs2132037572
|
|
NM_003640.5(ELP1):c.480T>C (p.Thr160=)
|
|
|
NM_003640.5(ELP1):c.482T>C (p.Val161Ala)
|
|
|
NM_003640.5(ELP1):c.486A>C (p.Gly162=)
|
rs2132037525
|
|
NM_003640.5(ELP1):c.486A>T (p.Gly162=)
|
|
|
NM_003640.5(ELP1):c.48A>G (p.Gln16=)
|
|
|
NM_003640.5(ELP1):c.490G>C (p.Gly164Arg)
|
rs765765951
|
|
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)
|
|
|
NM_003640.5(ELP1):c.4C>A (p.Arg2=)
|
rs926177767
|
|
NM_003640.5(ELP1):c.504A>G (p.Thr168=)
|
rs1485371118
|
|
NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)
|
|
|
NM_003640.5(ELP1):c.505_506del (p.Gln169fs)
|
rs1829698275
|
|
NM_003640.5(ELP1):c.505_506dup (p.Gln169fs)
|
|
|
NM_003640.5(ELP1):c.508T>G (p.Phe170Val)
|
|
|
NM_003640.5(ELP1):c.509T>C (p.Phe170Ser)
|
|
|
NM_003640.5(ELP1):c.512A>G (p.His171Arg)
|
|
|
NM_003640.5(ELP1):c.515G>A (p.Gly172Glu)
|
rs1829697305
|
|
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)
|
|
|
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly)
|
rs758442235
|
|
NM_003640.5(ELP1):c.546G>A (p.Met182Ile)
|
|
|
NM_003640.5(ELP1):c.548A>C (p.Gln183Pro)
|
|
|
NM_003640.5(ELP1):c.54del (p.Asn20fs)
|
rs1554703874
|
|
NM_003640.5(ELP1):c.552+10G>A
|
rs2132037326
|
|
NM_003640.5(ELP1):c.552+14G>A
|
|
|
NM_003640.5(ELP1):c.552+19A>T
|
|
|
NM_003640.5(ELP1):c.552+20T>C
|
|
|
NM_003640.5(ELP1):c.552+2T>A
|
rs1554702142
|
|
NM_003640.5(ELP1):c.552+2dup
|
rs1554702145
|
|
NM_003640.5(ELP1):c.552+9G>A
|
rs2132037328
|
|
NM_003640.5(ELP1):c.553-14_553-5del
|
|
|
NM_003640.5(ELP1):c.553-18G>A
|
|
|
NM_003640.5(ELP1):c.553-1G>A
|
|
|
NM_003640.5(ELP1):c.553-214G>C
|
rs7029072
|
|
NM_003640.5(ELP1):c.553-221del
|
rs879836091
|
|
NM_003640.5(ELP1):c.553-4_553-3del
|
rs757409808
|
|
NM_003640.5(ELP1):c.553-6T>C
|
|
|
NM_003640.5(ELP1):c.553-8C>T
|
|
|
NM_003640.5(ELP1):c.553-9C>G
|
rs371793321
|
|
NM_003640.5(ELP1):c.553-9C>T
|
rs371793321
|
|
NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer)
|
|
|
NM_003640.5(ELP1):c.561T>C (p.Ser187=)
|
rs2132031543
|
|
NM_003640.5(ELP1):c.561T>G (p.Ser187=)
|
|
|
NM_003640.5(ELP1):c.564T>A (p.Ala188=)
|
|
|
NM_003640.5(ELP1):c.564T>C (p.Ala188=)
|
|
|
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu)
|
rs771715592
|
|
NM_003640.5(ELP1):c.570C>A (p.Pro190=)
|
|
|
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)
|
rs1829561209
|
|
NM_003640.5(ELP1):c.574G>A (p.Asp192Asn)
|
rs775011794
|
|
NM_003640.5(ELP1):c.574del (p.Asp192fs)
|
|
|
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)
|
|
|
NM_003640.5(ELP1):c.57G>A (p.Gly19=)
|
|
|
NM_003640.5(ELP1):c.581A>G (p.His194Arg)
|
rs1682473914
|
|
NM_003640.5(ELP1):c.582T>C (p.His194=)
|
|
|
NM_003640.5(ELP1):c.585A>G (p.Arg195=)
|
rs2132031451
|
|
NM_003640.5(ELP1):c.588A>G (p.Pro196=)
|
rs146875913
|
|
NM_003640.5(ELP1):c.591A>G (p.Gln197=)
|
rs1377727570
|
|
NM_003640.5(ELP1):c.594T>A (p.Val198=)
|
rs916026192
|
|
NM_003640.5(ELP1):c.597C>G (p.Thr199=)
|
|
|
NM_003640.5(ELP1):c.597C>T (p.Thr199=)
|
|
|
NM_003640.5(ELP1):c.597del (p.Trp200fs)
|
|
|
NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)
|
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro)
|
rs367552387
|
|
NM_003640.5(ELP1):c.605G>A (p.Gly202Glu)
|
|
|
NM_003640.5(ELP1):c.608A>T (p.Asp203Val)
|
rs1829558657
|
|
NM_003640.5(ELP1):c.609_610dup (p.Gly204fs)
|
|
|
NM_003640.5(ELP1):c.61C>T (p.Pro21Ser)
|
|
|
NM_003640.5(ELP1):c.621T>C (p.Phe207=)
|
rs2132031316
|
|
NM_003640.5(ELP1):c.626T>C (p.Val209Ala)
|
rs1039834492
|
|
NM_003640.5(ELP1):c.626_627del (p.Val209fs)
|
|
|
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly)
|
rs541666513
|
|
NM_003640.5(ELP1):c.628_631dup (p.Val211fs)
|
|
|
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)
|
|
|
NM_003640.5(ELP1):c.63T>C (p.Pro21=)
|
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_003640.5(ELP1):c.649+11A>G
|
rs2132031229
|
|
NM_003640.5(ELP1):c.649+13A>T
|
|
|
NM_003640.5(ELP1):c.649+15T>A
|
|
|
NM_003640.5(ELP1):c.649+16G>A
|
|
|
NM_003640.5(ELP1):c.649+16G>T
|
rs142961763
|
|
NM_003640.5(ELP1):c.649+1G>A
|
rs1564102412
|
|
NM_003640.5(ELP1):c.649+3A>G
|
rs1554701323
|
|
NM_003640.5(ELP1):c.64C>T (p.Gln22Ter)
|
rs2132052954
|
|
NM_003640.5(ELP1):c.650-10T>G
|
rs2132030666
|
|
NM_003640.5(ELP1):c.650-11C>T
|
|
|
NM_003640.5(ELP1):c.650-12A>G
|
|
|
NM_003640.5(ELP1):c.650-18G>T
|
|
|
NM_003640.5(ELP1):c.650-5CA[3]
|
rs1394478274
|
|
NM_003640.5(ELP1):c.650-6G>A
|
rs571466270
|
|
NM_003640.5(ELP1):c.650-7C>G
|
|
|
NM_003640.5(ELP1):c.650-9C>G
|
|
|
NM_003640.5(ELP1):c.653C>T (p.Ala218Val)
|
rs1564102159
|
|
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly)
|
rs777975034
|
|
NM_003640.5(ELP1):c.666_667del (p.Arg222fs)
|
|
|
NM_003640.5(ELP1):c.66G>A (p.Gln22=)
|
rs2132052950
|
|
NM_003640.5(ELP1):c.671G>A (p.Trp224Ter)
|
rs1829544561
|
|
NM_003640.5(ELP1):c.674_678del (p.Asn225fs)
|
rs1449016398
|
|
NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)
|
|
|
NM_003640.5(ELP1):c.677G>C (p.Arg226Pro)
|
rs758239907
|
|
NM_003640.5(ELP1):c.677G>T (p.Arg226Leu)
|
rs758239907
|
|
NM_003640.5(ELP1):c.67T>C (p.Cys23Arg)
|
|
|
NM_003640.5(ELP1):c.683T>A (p.Phe228Tyr)
|
|
|
NM_003640.5(ELP1):c.687T>G (p.Ala229=)
|
rs2132030477
|
|
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala)
|
rs1356812138
|
|
NM_003640.5(ELP1):c.697A>T (p.Thr233Ser)
|
|
|
NM_003640.5(ELP1):c.697dup (p.Thr233fs)
|
|
|
NM_003640.5(ELP1):c.699C>G (p.Thr233=)
|
|
|
NM_003640.5(ELP1):c.69C>T (p.Cys23=)
|
rs1587928500
|
|
NM_003640.5(ELP1):c.705G>A (p.Glu235=)
|
|
|
NM_003640.5(ELP1):c.714A>G (p.Ala238=)
|
rs2132030418
|
|
NM_003640.5(ELP1):c.730C>T (p.Leu244=)
|
rs200836328
|
|
NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)
|
|
|
NM_003640.5(ELP1):c.740+11G>T
|
|
|
NM_003640.5(ELP1):c.740+12A>T
|
|
|
NM_003640.5(ELP1):c.740+153dup
|
rs35212638
|
|
NM_003640.5(ELP1):c.740+1G>T
|
|
|
NM_003640.5(ELP1):c.741-104TCAT[5]
|
rs57787716
|
|
NM_003640.5(ELP1):c.741-19A>G
|
|
|
NM_003640.5(ELP1):c.741-2A>C
|
|
|
NM_003640.5(ELP1):c.741-4T>G
|
rs1829498906
|
|
NM_003640.5(ELP1):c.741-5_741-4dup
|
rs2132028216
|
|
NM_003640.5(ELP1):c.741-9T>C
|
|
|
NM_003640.5(ELP1):c.744C>T (p.Pro248=)
|
rs777540385
|
|
NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)
|
|
|
NM_003640.5(ELP1):c.74C>T (p.Ser25Phe)
|
rs1829990677
|
|
NM_003640.5(ELP1):c.750C>A (p.Gly250=)
|
rs2132028153
|
|
NM_003640.5(ELP1):c.755T>G (p.Leu252Trp)
|
rs1829498017
|
|
NM_003640.5(ELP1):c.75T>C (p.Ser25=)
|
rs2132052925
|
|
NM_003640.5(ELP1):c.768A>C (p.Thr256=)
|
|
|
NM_003640.5(ELP1):c.768A>T (p.Thr256=)
|
rs985459923
|
|
NM_003640.5(ELP1):c.772G>C (p.Asp258His)
|
|
|
NM_003640.5(ELP1):c.777A>G (p.Lys259=)
|
|
|
NM_003640.5(ELP1):c.779C>A (p.Pro260His)
|
|
|
NM_003640.5(ELP1):c.779C>G (p.Pro260Arg)
|
rs2132028041
|
|
NM_003640.5(ELP1):c.782A>G (p.Asn261Ser)
|
|
|
NM_003640.5(ELP1):c.786G>A (p.Gln262=)
|
|
|
NM_003640.5(ELP1):c.789G>A (p.Gln263=)
|
|
|
NM_003640.5(ELP1):c.78C>T (p.Leu26=)
|
rs1164162179
|
|
NM_003640.5(ELP1):c.791A>G (p.Asp264Gly)
|
|
|
NM_003640.5(ELP1):c.792T>C (p.Asp264=)
|
rs2132027995
|
|
NM_003640.5(ELP1):c.79C>A (p.Arg27=)
|
rs868073099
|
|
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099
|
|
NM_003640.5(ELP1):c.812del (p.Asn271fs)
|
|
|
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)
|
|
|
NM_003640.5(ELP1):c.816A>C (p.Gly272=)
|
rs201336920
|
|
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del)
|
rs1554700891
|
|
NM_003640.5(ELP1):c.819C>G (p.Leu273=)
|
|
|
NM_003640.5(ELP1):c.822T>C (p.Leu274=)
|
rs1207966755
|
|
NM_003640.5(ELP1):c.822T>G (p.Leu274=)
|
rs1207966755
|
|
NM_003640.5(ELP1):c.824A>G (p.His275Arg)
|
rs1564100993
|
|
NM_003640.5(ELP1):c.825T>C (p.His275=)
|
rs2132027893
|
|
NM_003640.5(ELP1):c.836del (p.Thr279fs)
|
|
|
NM_003640.5(ELP1):c.837A>G (p.Thr279=)
|
|
|
NM_003640.5(ELP1):c.838C>T (p.Leu280Phe)
|
|
|
NM_003640.5(ELP1):c.840T>C (p.Leu280=)
|
|
|
NM_003640.5(ELP1):c.841C>G (p.Pro281Ala)
|
rs2132027839
|
|
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu)
|
rs770755917
|
|
NM_003640.5(ELP1):c.854A>T (p.Asp285Val)
|
rs1829487738
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
NM_003640.5(ELP1):c.860T>C (p.Val287Ala)
|
rs1031067109
|
|
NM_003640.5(ELP1):c.864+17G>A
|
|
|
NM_003640.5(ELP1):c.864+62dup
|
rs34189987
|
|
NM_003640.5(ELP1):c.864+6T>C
|
rs1829486746
|
|
NM_003640.5(ELP1):c.864+78_864+79del
|
rs34189987
|
|
NM_003640.5(ELP1):c.864+79del
|
rs34189987
|
|
NM_003640.5(ELP1):c.865-11T>A
|
|
|
NM_003640.5(ELP1):c.865-15T>A
|
|
|
NM_003640.5(ELP1):c.865-17T>C
|
|
|
NM_003640.5(ELP1):c.865-19G>C
|
|
|
NM_003640.5(ELP1):c.865-7dup
|
|
|
NM_003640.5(ELP1):c.865-8C>A
|
rs2132025319
|
|
NM_003640.5(ELP1):c.865-8C>T
|
|
|
NM_003640.5(ELP1):c.867A>C (p.Val289=)
|
|
|
NM_003640.5(ELP1):c.881G>A (p.Trp294Ter)
|
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
|
|
NM_003640.5(ELP1):c.88C>T (p.Gln30Ter)
|
|
|
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe)
|
rs1288706972
|
|
NM_003640.5(ELP1):c.894C>A (p.Ser298=)
|
rs1428327725
|
|
NM_003640.5(ELP1):c.900G>T (p.Val300=)
|
|
|
NM_003640.5(ELP1):c.906A>G (p.Ala302=)
|
|
|
NM_003640.5(ELP1):c.909_919del (p.Trp304fs)
|
rs2132025166
|
|
NM_003640.5(ELP1):c.915G>A (p.Leu305=)
|
|
|
NM_003640.5(ELP1):c.916G>A (p.Glu306Lys)
|
|
|
NM_003640.5(ELP1):c.921C>T (p.Asp307=)
|
rs2132025155
|
|
NM_003640.5(ELP1):c.942C>T (p.Ser314=)
|
rs761625150
|
|
NM_003640.5(ELP1):c.943A>G (p.Ile315Val)
|
|
|
NM_003640.5(ELP1):c.94del (p.Thr32fs)
|
|
|
NM_003640.5(ELP1):c.954_958+7del
|
rs2132025021
|
|
NM_003640.5(ELP1):c.955del (p.Cys319fs)
|
|
|
NM_003640.5(ELP1):c.958+10C>T
|
rs2132025006
|
|
NM_003640.5(ELP1):c.958+12G>A
|
|
|
NM_003640.5(ELP1):c.958+15G>A
|
|
|
NM_003640.5(ELP1):c.958+16T>C
|
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
NM_003640.5(ELP1):c.958+1G>A
|
|
|
NM_003640.5(ELP1):c.958G>A (p.Val320Ile)
|
|
|
NM_003640.5(ELP1):c.959-11T>A
|
|
|
NM_003640.5(ELP1):c.959-16T>A
|
|
|
NM_003640.5(ELP1):c.959-1G>A
|
rs2132017099
|
|
NM_003640.5(ELP1):c.959-20C>T
|
|
|
NM_003640.5(ELP1):c.959-225dup
|
rs199537662
|
|
NM_003640.5(ELP1):c.959-259C>A
|
rs12340653
|
|
NM_003640.5(ELP1):c.959-260del
|
rs554750757
|
|
NM_003640.5(ELP1):c.959-275dup
|
rs554750757
|
|
NM_003640.5(ELP1):c.959-2A>C
|
|
|
NM_003640.5(ELP1):c.959-5T>C
|
rs2132017118
|
|
NM_003640.5(ELP1):c.959-9C>T
|
|
|
NM_003640.5(ELP1):c.963G>A (p.Gln321=)
|
rs2132017094
|
|
NM_003640.5(ELP1):c.96G>C (p.Thr32=)
|
rs748202041
|
|
NM_003640.5(ELP1):c.972T>C (p.Thr324=)
|
rs2132017066
|
|
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851
|
|
NM_003640.5(ELP1):c.982dup (p.Tyr328fs)
|
rs2132017050
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)
|
|
|
NM_003640.5(ELP1):c.984T>C (p.Tyr328=)
|
|
|
NM_003640.5(ELP1):c.987C>G (p.His329Gln)
|
rs764033545
|
|
NM_003640.5(ELP1):c.990G>A (p.Trp330Ter)
|
rs1829265811
|
|
NM_003640.5(ELP1):c.993T>C (p.Tyr331=)
|
|
|
NM_003640.5(ELP1):c.996C>T (p.Leu332=)
|
rs2132017008
|
|
NM_017832.2(ABITRAM):c.-147G>C
|
rs1251331564
|
|