NM_000393.5(COL5A2):c.2229+51T>C
|
rs7556733
|
0.95743
|
NM_000393.5(COL5A2):c.2032-39A>T
|
rs6414122
|
0.95692
|
NM_000393.5(COL5A2):c.4353+101A>G
|
rs4666770
|
0.90278
|
NM_000393.5(COL5A2):c.4353+70A>G
|
rs7420715
|
0.90261
|
NM_000393.5(COL5A2):c.1977+85G>C
|
rs7424947
|
0.89237
|
NM_000393.5(COL5A2):c.2500-134A>G
|
rs6750027
|
0.87431
|
NM_000393.5(COL5A2):c.322+157C>T
|
rs4128538
|
0.86911
|
NM_000393.5(COL5A2):c.906+302C>T
|
rs7426169
|
0.73346
|
NM_000393.5(COL5A2):c.2130+141T>G
|
rs12989558
|
0.72476
|
NM_000393.5(COL5A2):c.2131-148A>G
|
rs10178611
|
0.72472
|
NM_000393.5(COL5A2):c.98-240A>T
|
rs7568732
|
0.71351
|
NM_000393.5(COL5A2):c.3526-324C>T
|
rs10194682
|
0.71303
|
NM_000393.5(COL5A2):c.4113+47C>T
|
rs12693526
|
0.71292
|
NM_000393.5(COL5A2):c.4113+282G>A
|
rs13008197
|
0.71287
|
NM_000393.5(COL5A2):c.4114-212G>A
|
rs4667259
|
0.71286
|
NM_000393.5(COL5A2):c.1158+79A>C
|
rs6434317
|
0.71265
|
NM_000393.5(COL5A2):c.1563+262C>T
|
rs6434316
|
0.71226
|
NM_000393.5(COL5A2):c.2445+98G>A
|
rs6738371
|
0.71058
|
NM_000393.5(COL5A2):c.2770-306A>G
|
rs7423973
|
0.71058
|
NM_000393.5(COL5A2):c.2085+143C>G
|
rs6414121
|
0.71056
|
NM_000393.5(COL5A2):c.2715+238A>T
|
rs62184178
|
0.70707
|
NM_000393.5(COL5A2):c.2715+237A>T
|
rs62184179
|
0.70698
|
NM_000393.5(COL5A2):c.2715+236A>T
|
rs62184180
|
0.70696
|
NM_000393.5(COL5A2):c.3148-285G>A
|
rs12693527
|
0.70389
|
NC_000002.12:g.189180039C>T
|
rs11691604
|
0.57852
|
NM_000393.5(COL5A2):c.3147+325A>G
|
rs13383261
|
0.17010
|
NM_000393.5(COL5A2):c.4113+223G>T
|
rs13393368
|
0.15132
|
NM_000393.5(COL5A2):c.1717-76del
|
rs74497802
|
0.14820
|
NM_000393.5(COL5A2):c.691-261_691-260dup
|
rs5837123
|
0.14110
|
NM_000393.5(COL5A2):c.2716-141G>A
|
rs72902380
|
0.14080
|
NM_000393.5(COL5A2):c.3310-164C>T
|
rs72902361
|
0.14076
|
NM_000393.5(COL5A2):c.852+14C>T
|
rs56310996
|
0.14063
|
NM_000393.5(COL5A2):c.691-58C>T
|
rs60355473
|
0.14058
|
NM_000393.5(COL5A2):c.852+59C>A
|
rs55963648
|
0.14058
|
NM_000393.5(COL5A2):c.906+62A>C
|
rs57206096
|
0.14056
|
NM_000393.5(COL5A2):c.745-130C>T
|
rs60860012
|
0.14055
|
NM_000393.5(COL5A2):c.906+178A>G
|
rs55929725
|
0.14054
|
NM_000393.5(COL5A2):c.798+127G>A
|
rs58532741
|
0.14045
|
NM_000393.5(COL5A2):c.852+161A>G
|
rs55711740
|
0.14043
|
NM_000393.5(COL5A2):c.690+169A>G
|
rs72904489
|
0.14039
|
NM_000393.5(COL5A2):c.1159-76C>T
|
rs72904419
|
0.14029
|
NM_000393.5(COL5A2):c.798+99C>A
|
rs57796506
|
0.14026
|
NM_000393.5(COL5A2):c.798+100A>T
|
rs61311233
|
0.14021
|
NM_000393.5(COL5A2):c.568-181A>C
|
rs60762885
|
0.13246
|
NM_000393.5(COL5A2):c.337-310A>G
|
rs72906375
|
0.13072
|
NM_000393.5(COL5A2):c.457-325C>T
|
rs56667101
|
0.13064
|
NM_000393.5(COL5A2):c.369+86C>A
|
rs55977069
|
0.13062
|
NM_000393.5(COL5A2):c.456+232G>A
|
rs72906354
|
0.13062
|
NM_000393.5(COL5A2):c.370-301G>A
|
rs55850163
|
0.13057
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
NM_000393.5(COL5A2):c.568-53C>T
|
rs58243388
|
0.13056
|
NM_000393.5(COL5A2):c.337-26T>C
|
rs56380683
|
0.13043
|
NM_000393.5(COL5A2):c.337-105A>T
|
rs55765720
|
0.13042
|
NM_000393.5(COL5A2):c.2229+235T>A
|
rs72902385
|
0.13041
|
NM_000393.5(COL5A2):c.567+275A>G
|
rs72906316
|
0.13023
|
NM_000393.5(COL5A2):c.567+182G>T
|
rs72906317
|
0.12959
|
NM_000393.5(COL5A2):c.3040-207T>C
|
rs10931391
|
0.11258
|
NM_000393.5(COL5A2):c.2031+59T>A
|
rs72904404
|
0.09421
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
NM_000393.5(COL5A2):c.3525+174A>G
|
rs10207530
|
0.09308
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
NM_000393.5(COL5A2):c.3926-216T>G
|
rs13421883
|
0.09265
|
NM_000393.5(COL5A2):c.3634-213T>A
|
rs13429993
|
0.09241
|
NM_000393.5(COL5A2):c.2031+279A>G
|
rs72904403
|
0.08306
|
NM_000393.5(COL5A2):c.3472-177T>C
|
rs13392501
|
0.07978
|
NM_000393.5(COL5A2):c.3634-124G>A
|
rs72902330
|
0.07502
|
NM_000393.5(COL5A2):c.3471+62C>T
|
rs59397955
|
0.07291
|
NM_000393.5(COL5A2):c.*298G>A
|
rs7586
|
0.07221
|
NM_000393.5(COL5A2):c.315= (p.Thr105=)
|
rs4128539
|
0.06734
|
NM_000393.5(COL5A2):c.3633+118G>A
|
rs59631824
|
0.05276
|
NM_000393.5(COL5A2):c.3925+279A>G
|
rs77183421
|
0.05046
|
NM_000393.5(COL5A2):c.403-42A>G
|
rs73051214
|
0.04827
|
NM_000393.5(COL5A2):c.798+258T>C
|
rs13416517
|
0.04778
|
NM_000393.5(COL5A2):c.2931+233A>G
|
rs61664338
|
0.04777
|
NM_000393.5(COL5A2):c.960+228G>A
|
rs13421370
|
0.04061
|
NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
|
rs6434312
|
0.03908
|
NC_000002.12:g.189179936A>G
|
rs7576519
|
0.03861
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
NM_000393.5(COL5A2):c.2031+60A>T
|
rs560894960
|
0.02531
|
NM_000393.5(COL5A2):c.3526-97G>A
|
rs115638230
|
0.01984
|
NM_000393.5(COL5A2):c.4353+69C>T
|
rs78854855
|
0.01927
|
NM_000393.5(COL5A2):c.853-297A>G
|
rs116435277
|
0.01867
|
NM_000393.5(COL5A2):c.798+286A>G
|
rs116226024
|
0.01866
|
NM_000393.5(COL5A2):c.3040-165G>A
|
rs116497614
|
0.01845
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_000393.5(COL5A2):c.*848T>C
|
rs72902303
|
0.00076
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_000393.5(COL5A2):c.*904A>C
|
rs778818824
|
0.00038
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)
|
rs200839338
|
0.00002
|
NM_000393.5(COL5A2):c.2337+27_2337+28insC
|
rs1262131748
|
0.00002
|
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
|
|
|
NM_000393.5(COL5A2):c.1059+120del
|
rs5837122
|
|
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT
|
rs150346155
|
|
NM_000393.5(COL5A2):c.2031+58T>A
|
|
|
NM_000393.5(COL5A2):c.2031+59del
|
rs369656754
|
|
NM_000393.5(COL5A2):c.2337+29del
|
rs34715449
|
|
NM_000393.5(COL5A2):c.2337+9dup
|
rs34715449
|
|
NM_000393.5(COL5A2):c.2770-166_2770-162del
|
rs144410979
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.3039+282_3039+288del
|
rs11277110
|
|
NM_000393.5(COL5A2):c.3147+295dup
|
rs397811419
|
|
NM_000393.5(COL5A2):c.3147+298dup
|
rs5837119
|
|
NM_000393.5(COL5A2):c.3310-132CA[11]
|
rs111268949
|
|
NM_000393.5(COL5A2):c.336+181del
|
rs147860045
|
|
NM_000393.5(COL5A2):c.337-152C>G
|
rs55905390
|
|
NM_000393.5(COL5A2):c.3525+207G>A
|
rs10195023
|
|
NM_000393.5(COL5A2):c.403-143T>C
|
rs72906358
|
|
NM_000393.5(COL5A2):c.4113+90del
|
rs142224900
|
|
NM_000393.5(COL5A2):c.568-276_568-272dup
|
rs141172366
|
|
NM_000393.5(COL5A2):c.645+116CATT[6]
|
rs5837124
|
|
NM_000393.5(COL5A2):c.852+309del
|
rs376308674
|
|