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.959-15C>T
|
rs112114410
|
0.01906
|
NM_003640.5(ELP1):c.189C>T (p.Leu63=)
|
rs2230786
|
0.01873
|
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.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.1758T>G (p.Pro586=)
|
rs35054425
|
0.00792
|
NM_003640.5(ELP1):c.2631C>T (p.Ala877=)
|
rs138023874
|
0.00791
|
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)
|
rs41278359
|
0.00732
|
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val)
|
rs35455790
|
0.00524
|
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)
|
rs35942802
|
0.00277
|
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.3280A>G (p.Arg1094Gly)
|
rs146440397
|
0.00098
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_003640.5(ELP1):c.2284-18T>C
|
rs768635920
|
0.00032
|
NM_003640.5(ELP1):c.3222+14C>T
|
rs374787755
|
0.00013
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)
|
rs537930129
|
0.00004
|
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg)
|
rs56053149
|
0.00003
|
NM_003640.5(ELP1):c.3855+18C>T
|
rs557015443
|
0.00001
|
GRCh37/hg19 9q31.3(chr9:111654395-111670100)x1
|
|
|
NC_000009.12:g.108934341C>G
|
rs200182947
|
|
NM_003640.5(ELP1):c.1360+166dup
|
rs11431875
|
|
NM_003640.5(ELP1):c.150+145A>G
|
rs838818
|
|
NM_003640.5(ELP1):c.1643+14dup
|
|
|
NM_003640.5(ELP1):c.1643+233T>A
|
rs73654150
|
|
NM_003640.5(ELP1):c.1644-15_1644-13del
|
rs753571092
|
|
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.1957T>C (p.Leu653=)
|
rs542412132
|
|
NM_003640.5(ELP1):c.209G>A (p.Arg70His)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2204+141dup
|
rs369301164
|
|
NM_003640.5(ELP1):c.2363+159G>T
|
rs2275628
|
|
NM_003640.5(ELP1):c.2588-97A>G
|
rs2275626
|
|
NM_003640.5(ELP1):c.2736+213A>G
|
rs10979598
|
|
NM_003640.5(ELP1):c.2737-16_2737-14del
|
|
|
NM_003640.5(ELP1):c.2737-9dup
|
rs2131975511
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3222+205T>G
|
rs3780507
|
|
NM_003640.5(ELP1):c.3461-78_3461-75del
|
rs10550153
|
|
NM_003640.5(ELP1):c.3855+9T>G
|
rs533673443
|
|
NM_003640.5(ELP1):c.553-214G>C
|
rs7029072
|
|
NM_003640.5(ELP1):c.740+153dup
|
rs35212638
|
|
NM_003640.5(ELP1):c.741-104TCAT[5]
|
rs57787716
|
|
NM_003640.5(ELP1):c.864+62dup
|
rs34189987
|
|
NM_003640.5(ELP1):c.864+78_864+79del
|
rs34189987
|
|
NM_003640.5(ELP1):c.864+79del
|
rs34189987
|
|
NM_003640.5(ELP1):c.959-259C>A
|
rs12340653
|
|
NM_003640.5(ELP1):c.959-275dup
|
rs554750757
|
|