NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=)
|
rs6434312
|
0.96092
|
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)
|
rs2229495
|
0.95762
|
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.315C>A (p.Thr105=)
|
rs4128539
|
0.93266
|
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.*1402T>G
|
rs11186
|
0.09269
|
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.*392T>C
|
rs1131518
|
0.07495
|
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.*639G>A
|
rs73981487
|
0.05878
|
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.*1165G>A
|
rs13914
|
0.04890
|
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.1311= (p.Pro437=)
|
rs2229495
|
0.04238
|
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.4354-137T>C
|
rs56339059
|
0.02624
|
NM_000393.5(COL5A2):c.3925+37G>T
|
rs55749146
|
0.02544
|
NM_000393.5(COL5A2):c.2031+60A>T
|
rs560894960
|
0.02531
|
NM_000393.5(COL5A2):c.*2131T>A
|
rs113513554
|
0.02206
|
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.2338-24A>G
|
rs73978812
|
0.01812
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_000393.5(COL5A2):c.1770+287G>A
|
rs73978820
|
0.01786
|
NM_000393.5(COL5A2):c.2446-84A>G
|
rs73978810
|
0.01786
|
NM_000393.5(COL5A2):c.2715+42C>A
|
rs73978809
|
0.01784
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)
|
rs78905646
|
0.01586
|
NM_000393.5(COL5A2):c.*1400A>G
|
rs12886
|
0.01556
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
NM_000393.5(COL5A2):c.2932-162G>A
|
rs115735575
|
0.01548
|
NM_000393.5(COL5A2):c.2392-41C>T
|
rs114959831
|
0.01546
|
NM_000393.5(COL5A2):c.2715+213T>C
|
rs144317055
|
0.01544
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000393.5(COL5A2):c.2337+27T>C
|
rs796525607
|
0.01406
|
NM_000393.5(COL5A2):c.*1669G>A
|
rs76151083
|
0.01378
|
NM_000393.5(COL5A2):c.*2062G>A
|
rs77821675
|
0.01359
|
NM_000393.5(COL5A2):c.*1904C>T
|
rs75096234
|
0.01358
|
NM_000393.5(COL5A2):c.*423C>T
|
rs77413180
|
0.01358
|
NM_000393.5(COL5A2):c.3633+107C>T
|
rs111645248
|
0.01357
|
NM_000393.5(COL5A2):c.4354-175G>C
|
rs79420523
|
0.01357
|
NM_000393.5(COL5A2):c.*1960A>G
|
rs76482660
|
0.01355
|
NM_000393.5(COL5A2):c.4354-300A>T
|
rs77944362
|
0.01353
|
NM_000393.5(COL5A2):c.4353+304C>T
|
rs76648666
|
0.01351
|
NM_000393.5(COL5A2):c.*1379A>G
|
rs114330868
|
0.01303
|
NM_000393.5(COL5A2):c.3310-108T>C
|
rs188576882
|
0.01297
|
NM_000393.5(COL5A2):c.3926-25G>C
|
rs72902319
|
0.01277
|
NM_000393.5(COL5A2):c.3926-139T>C
|
rs149056709
|
0.01276
|
NM_000393.5(COL5A2):c.799-202G>A
|
rs115671241
|
0.01234
|
NM_000393.5(COL5A2):c.1159-227A>C
|
rs116853584
|
0.01232
|
NM_000393.5(COL5A2):c.2770-190G>A
|
rs117025177
|
0.01232
|
NM_000393.5(COL5A2):c.457-59G>A
|
rs79251854
|
0.01231
|
NM_000393.5(COL5A2):c.*515C>T
|
rs113311693
|
0.01221
|
NM_000393.5(COL5A2):c.*46C>A
|
rs112739705
|
0.01217
|
NM_000393.5(COL5A2):c.3309+107G>T
|
rs117588489
|
0.01202
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
NM_000393.5(COL5A2):c.906+28A>G
|
rs146340989
|
0.01144
|
NM_000393.5(COL5A2):c.1977+61G>A
|
rs79568088
|
0.01049
|
NM_000393.5(COL5A2):c.798+43C>T
|
rs58624621
|
0.01038
|
NM_000393.5(COL5A2):c.2337+143A>G
|
rs73978813
|
0.01036
|
NM_000393.5(COL5A2):c.3148-216A>G
|
rs115536167
|
0.01031
|
NM_000393.5(COL5A2):c.798+184C>T
|
rs57484527
|
0.01021
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_000393.5(COL5A2):c.2230-197G>A
|
rs73978814
|
0.01007
|
NM_000393.5(COL5A2):c.3040-40A>G
|
rs114502556
|
0.01007
|
NM_000393.5(COL5A2):c.1159-246T>C
|
rs73978826
|
0.01006
|
NM_000393.5(COL5A2):c.1104+116T>C
|
rs73978829
|
0.01005
|
NM_000393.5(COL5A2):c.2230-255T>C
|
rs115760110
|
0.01004
|
NM_000393.5(COL5A2):c.2770-34G>T
|
rs73978807
|
0.01000
|
NM_000393.5(COL5A2):c.2337+62G>T
|
rs116016659
|
0.00952
|
NM_000393.5(COL5A2):c.1104+115T>C
|
rs145791814
|
0.00948
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
NM_000393.5(COL5A2):c.3040-190G>A
|
rs115398478
|
0.00876
|
NM_000393.5(COL5A2):c.2553+88G>A
|
rs75042806
|
0.00875
|
NM_000393.5(COL5A2):c.3147+331T>A
|
rs143993989
|
0.00827
|
NM_000393.5(COL5A2):c.-34C>T
|
rs114102476
|
0.00807
|
NM_000393.5(COL5A2):c.1563+217C>G
|
rs115184225
|
0.00790
|
NM_000393.5(COL5A2):c.853-89T>C
|
rs114280344
|
0.00786
|
NM_000393.5(COL5A2):c.645+108C>T
|
rs115949351
|
0.00783
|
NM_000393.5(COL5A2):c.403-292C>A
|
rs77535435
|
0.00782
|
NM_000393.5(COL5A2):c.369+80T>A
|
rs111674411
|
0.00780
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_000393.5(COL5A2):c.1005+200C>T
|
rs116351142
|
0.00769
|
NM_000393.5(COL5A2):c.1401+281T>G
|
rs147392450
|
0.00769
|
NM_000393.5(COL5A2):c.2130+125T>A
|
rs186186367
|
0.00769
|
NM_000393.5(COL5A2):c.1006-69G>C
|
rs151293077
|
0.00768
|
NM_000393.5(COL5A2):c.2131-29G>C
|
rs79938750
|
0.00768
|
NM_000393.5(COL5A2):c.370-16C>T
|
rs148220961
|
0.00748
|
NM_000393.5(COL5A2):c.1402-207T>A
|
rs149453147
|
0.00717
|
NM_000393.5(COL5A2):c.2554-14A>G
|
rs142429770
|
0.00703
|
NM_000393.5(COL5A2):c.*476T>C
|
rs138670180
|
0.00689
|
NM_000393.5(COL5A2):c.3202-62A>G
|
rs146347888
|
0.00689
|
NM_000393.5(COL5A2):c.1564-37C>T
|
rs116376785
|
0.00687
|
NM_000393.5(COL5A2):c.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_000393.5(COL5A2):c.3309+100C>T
|
rs79111113
|
0.00687
|
NM_000393.5(COL5A2):c.1717-86A>G
|
rs189980880
|
0.00684
|
NM_000393.5(COL5A2):c.1564-235C>A
|
rs138594699
|
0.00604
|
NM_000393.5(COL5A2):c.2229+59G>A
|
rs143651488
|
0.00574
|
NM_000393.5(COL5A2):c.*798A>G
|
rs116775405
|
0.00567
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000393.5(COL5A2):c.3147+46A>G
|
rs13383588
|
0.00500
|
NM_000393.5(COL5A2):c.*391A>G
|
rs143552248
|
0.00486
|
NM_000393.5(COL5A2):c.3926-149C>T
|
rs73049467
|
0.00483
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
NM_000393.5(COL5A2):c.2769+287T>C
|
rs13405822
|
0.00481
|
NM_000393.5(COL5A2):c.*1852T>C
|
rs116255986
|
0.00479
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_000393.5(COL5A2):c.2499+37T>C
|
rs13413060
|
0.00478
|
NM_000393.5(COL5A2):c.2445+42T>A
|
rs13413296
|
0.00476
|
NM_000393.5(COL5A2):c.690+40C>T
|
rs114482825
|
0.00465
|
NM_000393.5(COL5A2):c.370-279G>A
|
rs141185549
|
0.00429
|
NM_000393.5(COL5A2):c.*525A>G
|
rs10195176
|
0.00418
|
NM_000393.5(COL5A2):c.3201+263G>A
|
rs10196855
|
0.00414
|
NM_000393.5(COL5A2):c.369+167A>T
|
rs73051216
|
0.00410
|
NM_000393.5(COL5A2):c.2230-54A>G
|
rs577663975
|
0.00408
|
NM_000393.5(COL5A2):c.403-304G>A
|
rs13396958
|
0.00393
|
NM_000393.5(COL5A2):c.906+90T>C
|
rs10182959
|
0.00390
|
NM_000393.5(COL5A2):c.1257+75A>G
|
rs186264260
|
0.00388
|
NM_000393.5(COL5A2):c.*1076G>A
|
rs114123906
|
0.00382
|
NM_000393.5(COL5A2):c.568-130C>A
|
rs73051207
|
0.00354
|
NM_000393.5(COL5A2):c.403-250C>G
|
rs140475457
|
0.00337
|
NM_000393.5(COL5A2):c.1257+55C>T
|
rs190737733
|
0.00322
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000393.5(COL5A2):c.2553+52A>G
|
rs75502372
|
0.00280
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)
|
rs78870279
|
0.00221
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_000393.5(COL5A2):c.-50C>T
|
rs183260194
|
0.00192
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
NM_000393.5(COL5A2):c.33C>T (p.Leu11=)
|
rs140108893
|
0.00130
|
NM_000393.5(COL5A2):c.3039+15C>T
|
rs114619770
|
0.00125
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)
|
rs148786600
|
0.00118
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_000393.5(COL5A2):c.*436A>G
|
rs149313073
|
0.00110
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_000393.5(COL5A2):c.960+35T>C
|
rs75310549
|
0.00108
|
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
|
rs148590409
|
0.00087
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_000393.5(COL5A2):c.*848T>C
|
rs72902303
|
0.00076
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000393.5(COL5A2):c.2770-5A>G
|
rs370313198
|
0.00060
|
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
|
rs143318792
|
0.00058
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
NM_000393.5(COL5A2):c.798+10C>T
|
rs368165817
|
0.00047
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
NM_000393.5(COL5A2):c.322+18C>G
|
rs201708256
|
0.00045
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000393.5(COL5A2):c.-96G>T
|
rs28384400
|
0.00040
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_000393.5(COL5A2):c.*904A>C
|
rs778818824
|
0.00038
|
NM_000393.5(COL5A2):c.3310-17T>A
|
rs201791446
|
0.00038
|
NM_000393.5(COL5A2):c.745-13G>A
|
rs145442880
|
0.00038
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
NM_000393.5(COL5A2):c.*446G>A
|
rs570467727
|
0.00032
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
NM_000393.5(COL5A2):c.852G>A (p.Pro284=)
|
rs150092345
|
0.00031
|
NM_000393.5(COL5A2):c.98-13T>A
|
rs376487446
|
0.00031
|
NM_000393.5(COL5A2):c.1923+8T>C
|
rs191193125
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000393.5(COL5A2):c.3526-45A>T
|
rs529927639
|
0.00029
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)
|
rs142544320
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000393.5(COL5A2):c.1433A>T (p.Glu478Val)
|
rs559110283
|
0.00024
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
NM_000393.4(COL5A2):c.-176T>A
|
rs570350400
|
0.00021
|
NM_000393.5(COL5A2):c.*939G>T
|
rs539647365
|
0.00021
|
NM_000393.5(COL5A2):c.2338-6T>C
|
rs375291199
|
0.00020
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=)
|
rs375110673
|
0.00019
|
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)
|
rs372170366
|
0.00019
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro)
|
rs34395097
|
0.00018
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr)
|
rs754018138
|
0.00017
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_000393.5(COL5A2):c.288T>C (p.Cys96=)
|
rs577308799
|
0.00016
|
NM_000393.5(COL5A2):c.961-14T>C
|
rs199880428
|
0.00016
|
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn)
|
rs140851866
|
0.00015
|
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=)
|
rs763068575
|
0.00014
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser)
|
rs376971803
|
0.00014
|
NM_000393.5(COL5A2):c.3925+34G>A
|
rs372307420
|
0.00014
|
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala)
|
rs542643688
|
0.00013
|
NM_000393.5(COL5A2):c.228C>T (p.Cys76=)
|
rs564136480
|
0.00013
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)
|
rs149064715
|
0.00013
|
NM_000393.5(COL5A2):c.*561T>C
|
rs564981830
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.1977+12T>G
|
rs202204374
|
0.00011
|
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=)
|
rs370304175
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His)
|
rs139264859
|
0.00011
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
NM_000393.5(COL5A2):c.906+9A>G
|
rs761662868
|
0.00011
|
NM_000393.5(COL5A2):c.3039+7A>G
|
rs369227715
|
0.00010
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)
|
rs142895373
|
0.00010
|
NM_000393.5(COL5A2):c.*126A>G
|
rs755412373
|
0.00009
|
NM_000393.5(COL5A2):c.*19G>A
|
rs199758990
|
0.00009
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
NM_000393.5(COL5A2):c.2715+11T>C
|
rs371363636
|
0.00009
|
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)
|
rs930378570
|
0.00009
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
NM_000393.5(COL5A2):c.570G>A (p.Pro190=)
|
rs139666335
|
0.00009
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
NM_000393.5(COL5A2):c.*1961T>C
|
rs886055346
|
0.00007
|
NM_000393.5(COL5A2):c.*401A>C
|
rs886055352
|
0.00007
|
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His)
|
rs529317104
|
0.00007
|
NM_000393.5(COL5A2):c.2770-6T>C
|
rs770409954
|
0.00007
|
NM_000393.5(COL5A2):c.2931+18G>A
|
rs369992922
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
NM_000393.5(COL5A2):c.4354-20A>G
|
rs568113641
|
0.00007
|
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)
|
rs368234550
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_000393.5(COL5A2):c.1617+9G>T
|
rs186490845
|
0.00006
|
NM_000393.5(COL5A2):c.1716+9A>G
|
rs201934598
|
0.00006
|
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=)
|
rs773332771
|
0.00006
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys)
|
rs199530997
|
0.00006
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
NM_000393.5(COL5A2):c.3431A>G (p.His1144Arg)
|
rs1418496907
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=)
|
rs1131429
|
0.00006
|
NM_000393.5(COL5A2):c.4114-11T>C
|
rs587780908
|
0.00006
|
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=)
|
rs138837670
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
NM_000393.5(COL5A2):c.567+17G>T
|
rs780672109
|
0.00006
|
NM_000393.5(COL5A2):c.735T>G (p.Pro245=)
|
rs148851552
|
0.00006
|
NM_000393.5(COL5A2):c.906+14A>G
|
rs768645507
|
0.00006
|
NM_000393.5(COL5A2):c.985A>G (p.Met329Val)
|
rs140785678
|
0.00006
|
NM_000393.5(COL5A2):c.1005+10C>T
|
rs767297800
|
0.00005
|
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)
|
rs370774253
|
0.00005
|
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys)
|
rs754429372
|
0.00005
|
NM_000393.5(COL5A2):c.3309+16A>G
|
rs369424272
|
0.00005
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
NM_000393.5(COL5A2):c.*211T>A
|
rs776264833
|
0.00004
|
NM_000393.5(COL5A2):c.1005+11G>A
|
rs371296580
|
0.00004
|
NM_000393.5(COL5A2):c.1105-18T>C
|
rs930742709
|
0.00004
|
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
|
rs755909523
|
0.00004
|
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=)
|
rs751503520
|
0.00004
|
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val)
|
rs201022138
|
0.00004
|
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=)
|
rs762976916
|
0.00004
|
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser)
|
rs1388564782
|
0.00004
|
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=)
|
rs149574060
|
0.00004
|
NM_000393.5(COL5A2):c.3310-3T>A
|
rs752705717
|
0.00004
|
NM_000393.5(COL5A2):c.3525+9del
|
rs1279747855
|
0.00004
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=)
|
rs201460445
|
0.00004
|
NM_000393.5(COL5A2):c.3613G>A (p.Val1205Ile)
|
rs377660244
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=)
|
rs760353505
|
0.00004
|
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=)
|
rs199904322
|
0.00004
|
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=)
|
rs754605516
|
0.00004
|
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu)
|
rs374225489
|
0.00004
|
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)
|
rs150931608
|
0.00004
|
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)
|
rs142857608
|
0.00004
|
NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro)
|
rs11553463
|
0.00004
|
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)
|
rs371225266
|
0.00004
|
NM_000393.5(COL5A2):c.567+7T>C
|
rs755666206
|
0.00004
|
NM_000393.5(COL5A2):c.744+18A>G
|
rs373820975
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_000393.5(COL5A2):c.907-5C>A
|
rs756538217
|
0.00004
|
NM_000393.5(COL5A2):c.-37T>G
|
rs780293852
|
0.00003
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
NM_000393.5(COL5A2):c.1006-8G>A
|
rs200405052
|
0.00003
|
NM_000393.5(COL5A2):c.1059+8T>C
|
rs200968159
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.1159-7C>A
|
rs377321742
|
0.00003
|
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val)
|
rs370121305
|
0.00003
|
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
|
rs149305351
|
0.00003
|
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu)
|
rs1051400743
|
0.00003
|
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr)
|
rs746339285
|
0.00003
|
NM_000393.5(COL5A2):c.1869+17A>G
|
rs776780834
|
0.00003
|
NM_000393.5(COL5A2):c.1923+11A>G
|
rs368776400
|
0.00003
|
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser)
|
rs773726323
|
0.00003
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys)
|
rs201961021
|
0.00003
|
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser)
|
rs267599127
|
0.00003
|
NM_000393.5(COL5A2):c.3040-9C>A
|
rs377334807
|
0.00003
|
NM_000393.5(COL5A2):c.3148-15C>T
|
rs901541312
|
0.00003
|
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His)
|
rs1039715132
|
0.00003
|
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)
|
rs151187317
|
0.00003
|
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys)
|
rs747946828
|
0.00003
|
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn)
|
rs750574093
|
0.00003
|
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)
|
rs753383064
|
0.00003
|
NM_000393.5(COL5A2):c.3717C>T (p.His1239=)
|
rs769790821
|
0.00003
|
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=)
|
rs767144730
|
0.00003
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
NM_000393.5(COL5A2):c.399G>A (p.Pro133=)
|
rs369867930
|
0.00003
|
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His)
|
rs143163673
|
0.00003
|
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser)
|
rs145755198
|
0.00003
|
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)
|
rs1436390158
|
0.00003
|
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)
|
rs762653511
|
0.00003
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr)
|
rs753194366
|
0.00003
|
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)
|
rs761481937
|
0.00003
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_000393.5(COL5A2):c.537G>A (p.Pro179=)
|
rs762891893
|
0.00003
|
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr)
|
rs758156613
|
0.00003
|
NM_000393.5(COL5A2):c.691-4G>A
|
rs767803370
|
0.00003
|
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr)
|
rs148005959
|
0.00003
|
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr)
|
rs200839338
|
0.00002
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.1564-8A>T
|
rs776187028
|
0.00002
|
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser)
|
rs200205564
|
0.00002
|
NM_000393.5(COL5A2):c.1618-7G>A
|
rs77456219
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.1716+13C>G
|
rs779517028
|
0.00002
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
0.00002
|
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=)
|
rs765364009
|
0.00002
|
NM_000393.5(COL5A2):c.2031+3A>G
|
rs201947903
|
0.00002
|
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser)
|
rs372270389
|
0.00002
|
NM_000393.5(COL5A2):c.2337+27_2337+28insC
|
rs1262131748
|
0.00002
|
NM_000393.5(COL5A2):c.2446-17T>G
|
rs774566945
|
0.00002
|
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser)
|
rs372904150
|
0.00002
|
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=)
|
rs375877757
|
0.00002
|
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg)
|
rs1286805423
|
0.00002
|
NM_000393.5(COL5A2):c.2661+13G>T
|
rs534626192
|
0.00002
|
NM_000393.5(COL5A2):c.2662-13T>G
|
rs764874823
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=)
|
rs1060504380
|
0.00002
|
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser)
|
rs909634945
|
0.00002
|
NM_000393.5(COL5A2):c.3040-8T>C
|
rs886055355
|
0.00002
|
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser)
|
rs773168254
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.323G>A (p.Gly108Asp)
|
rs954753747
|
0.00002
|
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val)
|
rs766499543
|
0.00002
|
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)
|
rs377049803
|
0.00002
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
NM_000393.5(COL5A2):c.3363+18G>T
|
rs1465568437
|
0.00002
|
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)
|
rs144890303
|
0.00002
|
NM_000393.5(COL5A2):c.3471+3A>G
|
rs929722223
|
0.00002
|
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser)
|
rs780899667
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
|
rs1243023432
|
0.00002
|
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=)
|
rs773058827
|
0.00002
|
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly)
|
rs555111281
|
0.00002
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
0.00002
|
NM_000393.5(COL5A2):c.4114-14C>G
|
rs777751790
|
0.00002
|
NM_000393.5(COL5A2):c.4163C>G (p.Thr1388Ser)
|
rs771415085
|
0.00002
|
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=)
|
rs529257786
|
0.00002
|
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=)
|
rs965891508
|
0.00002
|
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn)
|
rs550723518
|
0.00002
|
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)
|
rs760569641
|
0.00002
|
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr)
|
rs369394572
|
0.00002
|
NM_000393.5(COL5A2):c.568-11C>T
|
rs375129913
|
0.00002
|
NM_000393.5(COL5A2):c.750G>A (p.Pro250=)
|
rs751819198
|
0.00002
|
NM_000393.5(COL5A2):c.799-6A>G
|
rs111586240
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_000393.5(COL5A2):c.*1460A>T
|
rs886055349
|
0.00001
|
NM_000393.5(COL5A2):c.*1970T>G
|
rs548360577
|
0.00001
|
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu)
|
rs766349082
|
0.00001
|
NM_000393.5(COL5A2):c.1011G>A (p.Pro337=)
|
rs762983955
|
0.00001
|
NM_000393.5(COL5A2):c.1040T>A (p.Leu347His)
|
rs1356274894
|
0.00001
|
NM_000393.5(COL5A2):c.1059+13G>C
|
rs1559093269
|
0.00001
|
NM_000393.5(COL5A2):c.1059+15T>C
|
rs772728428
|
0.00001
|
NM_000393.5(COL5A2):c.1059+9A>G
|
rs776100559
|
0.00001
|
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln)
|
rs761072017
|
0.00001
|
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg)
|
rs760117362
|
0.00001
|
NM_000393.5(COL5A2):c.1158+14G>A
|
rs1057523022
|
0.00001
|
NM_000393.5(COL5A2):c.1159-10A>G
|
rs767892138
|
0.00001
|
NM_000393.5(COL5A2):c.1159-13T>C
|
rs756321922
|
0.00001
|
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=)
|
rs863223485
|
0.00001
|
NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala)
|
rs1412825331
|
0.00001
|
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val)
|
rs1391129049
|
0.00001
|
NM_000393.5(COL5A2):c.1302+9T>C
|
rs1199559237
|
0.00001
|
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
|
rs376170776
|
0.00001
|
NM_000393.5(COL5A2):c.1303-16T>A
|
rs1057524650
|
0.00001
|
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu)
|
rs757674141
|
0.00001
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=)
|
rs1200615943
|
0.00001
|
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln)
|
rs1553515798
|
0.00001
|
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His)
|
rs750126490
|
0.00001
|
NM_000393.5(COL5A2):c.1456-10T>C
|
rs918840882
|
0.00001
|
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
|
rs144540534
|
0.00001
|
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser)
|
rs780495441
|
0.00001
|
NM_000393.5(COL5A2):c.1527A>C (p.Pro509=)
|
rs202234821
|
0.00001
|
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=)
|
rs770622592
|
0.00001
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
0.00001
|
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys)
|
rs863223490
|
0.00001
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
NM_000393.5(COL5A2):c.1611G>A (p.Gly537=)
|
rs1686117535
|
0.00001
|
NM_000393.5(COL5A2):c.1618-17G>A
|
rs1272843185
|
0.00001
|
NM_000393.5(COL5A2):c.1618-8C>T
|
rs746841809
|
0.00001
|
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
|
rs369506320
|
0.00001
|
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg)
|
rs1184276149
|
0.00001
|
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His)
|
rs1199481029
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=)
|
rs1483483512
|
0.00001
|
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg)
|
rs863223503
|
0.00001
|
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=)
|
rs776228988
|
0.00001
|
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp)
|
rs768322852
|
0.00001
|
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)
|
rs760408439
|
0.00001
|
NM_000393.5(COL5A2):c.1716+12G>A
|
rs745767713
|
0.00001
|
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile)
|
rs771004951
|
0.00001
|
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser)
|
rs544303636
|
0.00001
|
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu)
|
rs863223505
|
0.00001
|
NM_000393.5(COL5A2):c.1892A>G (p.Glu631Gly)
|
rs918877773
|
0.00001
|
NM_000393.5(COL5A2):c.1928C>T (p.Ala643Val)
|
rs767643591
|
0.00001
|
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu)
|
rs746458284
|
0.00001
|
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=)
|
rs140541824
|
0.00001
|
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)
|
rs563606558
|
0.00001
|
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys)
|
rs144652675
|
0.00001
|
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr)
|
rs904166744
|
0.00001
|
NM_000393.5(COL5A2):c.2020A>G (p.Thr674Ala)
|
rs1686034098
|
0.00001
|
NM_000393.5(COL5A2):c.2031+14C>T
|
rs749030256
|
0.00001
|
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr)
|
rs765785677
|
0.00001
|
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)
|
rs772811492
|
0.00001
|
NM_000393.5(COL5A2):c.2121A>G (p.Leu707=)
|
rs1247190308
|
0.00001
|
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=)
|
rs1451386429
|
0.00001
|
NM_000393.5(COL5A2):c.2131-16C>T
|
rs1187598016
|
0.00001
|
NM_000393.5(COL5A2):c.2131-5G>T
|
rs1219841781
|
0.00001
|
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln)
|
rs776302656
|
0.00001
|
NM_000393.5(COL5A2):c.2156G>A (p.Arg719Lys)
|
rs760537680
|
0.00001
|
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr)
|
rs372812220
|
0.00001
|
NM_000393.5(COL5A2):c.2229+10A>G
|
rs1269243284
|
0.00001
|
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala)
|
rs753363765
|
0.00001
|
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser)
|
rs1244308550
|
0.00001
|
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=)
|
rs549187703
|
0.00001
|
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=)
|
rs138457003
|
0.00001
|
NM_000393.5(COL5A2):c.2338-10G>A
|
rs1017894646
|
0.00001
|
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val)
|
rs1270917752
|
0.00001
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
NM_000393.5(COL5A2):c.2392-18T>C
|
rs746722538
|
0.00001
|
NM_000393.5(COL5A2):c.2392-4A>G
|
rs758314268
|
0.00001
|
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
NM_000393.5(COL5A2):c.2400A>G (p.Pro800=)
|
rs1335810893
|
0.00001
|
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)
|
rs575864379
|
0.00001
|
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)
|
rs200019093
|
0.00001
|
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe)
|
rs771633594
|
0.00001
|
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp)
|
rs778544623
|
0.00001
|
NM_000393.5(COL5A2):c.2499+18G>T
|
rs1275018864
|
0.00001
|
NM_000393.5(COL5A2):c.2500-12G>T
|
rs749087232
|
0.00001
|
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)
|
rs745528957
|
0.00001
|
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=)
|
rs1192759045
|
0.00001
|
NM_000393.5(COL5A2):c.2553+30A>G
|
rs1350030532
|
0.00001
|
NM_000393.5(COL5A2):c.2554-5T>C
|
rs373495598
|
0.00001
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)
|
rs746155819
|
0.00001
|
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met)
|
rs778591411
|
0.00001
|
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser)
|
rs754389345
|
0.00001
|
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)
|
rs760858324
|
0.00001
|
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)
|
rs773515722
|
0.00001
|
NM_000393.5(COL5A2):c.270G>A (p.Gly90=)
|
rs756103588
|
0.00001
|
NM_000393.5(COL5A2):c.2715+12T>G
|
rs369677461
|
0.00001
|
NM_000393.5(COL5A2):c.2715+16G>A
|
rs774654781
|
0.00001
|
NM_000393.5(COL5A2):c.2715+18T>G
|
rs781686307
|
0.00001
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=)
|
rs778360315
|
0.00001
|
NM_000393.5(COL5A2):c.2756C>T (p.Pro919Leu)
|
rs1388047059
|
0.00001
|
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser)
|
rs1189019903
|
0.00001
|
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)
|
rs747843876
|
0.00001
|
NM_000393.5(COL5A2):c.2791C>T (p.Pro931Ser)
|
rs1182035468
|
0.00001
|
NM_000393.5(COL5A2):c.2800G>C (p.Glu934Gln)
|
rs751499848
|
0.00001
|
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=)
|
rs141089340
|
0.00001
|
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)
|
rs761988412
|
0.00001
|
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr)
|
rs1027615025
|
0.00001
|
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)
|
rs1200990468
|
0.00001
|
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=)
|
rs372780282
|
0.00001
|
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp)
|
rs759604513
|
0.00001
|
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=)
|
rs1685766903
|
0.00001
|
NM_000393.5(COL5A2):c.2943C>T (p.Gly981=)
|
rs771950850
|
0.00001
|
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=)
|
rs757271535
|
0.00001
|
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)
|
rs1040238147
|
0.00001
|
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)
|
rs1354785209
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=)
|
rs777896102
|
0.00001
|
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=)
|
rs756259584
|
0.00001
|
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)
|
rs777070552
|
0.00001
|
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=)
|
rs769755441
|
0.00001
|
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala)
|
rs768663426
|
0.00001
|
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp)
|
rs1449512324
|
0.00001
|
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=)
|
rs746246121
|
0.00001
|
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys)
|
rs779213867
|
0.00001
|
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
|
rs539362640
|
0.00001
|
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His)
|
rs780705330
|
0.00001
|
NM_000393.5(COL5A2):c.3201+8C>A
|
rs751150447
|
0.00001
|
NM_000393.5(COL5A2):c.323-15C>G
|
rs766670107
|
0.00001
|
NM_000393.5(COL5A2):c.324T>C (p.Gly108=)
|
rs201881801
|
0.00001
|
NM_000393.5(COL5A2):c.3250G>A (p.Ala1084Thr)
|
rs1432653441
|
0.00001
|
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=)
|
rs1576490715
|
0.00001
|
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser)
|
rs761543775
|
0.00001
|
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp)
|
rs770974455
|
0.00001
|
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val)
|
rs1162768110
|
0.00001
|
NM_000393.5(COL5A2):c.3299G>C (p.Arg1100Thr)
|
rs942673350
|
0.00001
|
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln)
|
rs369725456
|
0.00001
|
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=)
|
rs928228342
|
0.00001
|
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=)
|
rs773532298
|
0.00001
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000393.5(COL5A2):c.3363+2T>C
|
rs1559076442
|
0.00001
|
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)
|
rs886055354
|
0.00001
|
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=)
|
rs754843093
|
0.00001
|
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=)
|
rs574148843
|
0.00001
|
NM_000393.5(COL5A2):c.3472-16T>C
|
rs1057522404
|
0.00001
|
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=)
|
rs754108091
|
0.00001
|
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser)
|
rs367939836
|
0.00001
|
NM_000393.5(COL5A2):c.353C>G (p.Pro118Arg)
|
rs1224192066
|
0.00001
|
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=)
|
rs140022057
|
0.00001
|
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala)
|
rs863223496
|
0.00001
|
NM_000393.5(COL5A2):c.3586A>G (p.Ile1196Val)
|
rs1271802995
|
0.00001
|
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn)
|
rs1060501907
|
0.00001
|
NM_000393.5(COL5A2):c.3633+12A>G
|
rs886055353
|
0.00001
|
NM_000393.5(COL5A2):c.3633+14G>T
|
rs776087725
|
0.00001
|
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)
|
rs1056466895
|
0.00001
|
NM_000393.5(COL5A2):c.3650C>G (p.Pro1217Arg)
|
rs863223509
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg)
|
rs773321546
|
0.00001
|
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)
|
rs762902468
|
0.00001
|
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val)
|
rs1064795177
|
0.00001
|
NM_000393.5(COL5A2):c.3823C>T (p.Leu1275Phe)
|
rs570175207
|
0.00001
|
NM_000393.5(COL5A2):c.3832C>A (p.Gln1278Lys)
|
rs147767226
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
|
rs757439328
|
0.00001
|
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn)
|
rs1194645204
|
0.00001
|
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser)
|
rs766162092
|
0.00001
|
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys)
|
rs758136981
|
0.00001
|
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His)
|
rs150063612
|
0.00001
|
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala)
|
rs765068787
|
0.00001
|
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn)
|
rs1553512886
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg)
|
rs138900123
|
0.00001
|
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)
|
rs372897632
|
0.00001
|
NM_000393.5(COL5A2):c.3925+17C>T
|
rs1685506449
|
0.00001
|
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu)
|
rs745580343
|
0.00001
|
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
|
rs141206016
|
0.00001
|
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=)
|
rs753760854
|
0.00001
|
NM_000393.5(COL5A2):c.4090C>A (p.Leu1364Ile)
|
rs777866283
|
0.00001
|
NM_000393.5(COL5A2):c.4114-17A>G
|
rs778711548
|
0.00001
|
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=)
|
rs755092575
|
0.00001
|
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala)
|
rs370026245
|
0.00001
|
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala)
|
rs1169417653
|
0.00001
|
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
|
rs754932150
|
0.00001
|
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly)
|
rs1685415466
|
0.00001
|
NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe)
|
rs1409867440
|
0.00001
|
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly)
|
rs371259794
|
0.00001
|
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)
|
rs754240060
|
0.00001
|
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)
|
rs146982082
|
0.00001
|
NM_000393.5(COL5A2):c.4353+9T>C
|
rs776352996
|
0.00001
|
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)
|
rs745935107
|
0.00001
|
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)
|
rs1430667498
|
0.00001
|
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)
|
rs781760462
|
0.00001
|
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=)
|
rs1193385199
|
0.00001
|
NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val)
|
rs1163031439
|
0.00001
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
NM_000393.5(COL5A2):c.464G>A (p.Arg155His)
|
rs754702218
|
0.00001
|
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala)
|
rs1218677057
|
0.00001
|
NM_000393.5(COL5A2):c.491C>A (p.Pro164Gln)
|
rs1288294024
|
0.00001
|
NM_000393.5(COL5A2):c.528T>A (p.Pro176=)
|
rs751404827
|
0.00001
|
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu)
|
rs766179958
|
0.00001
|
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala)
|
rs1686805632
|
0.00001
|
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp)
|
rs746671710
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000393.5(COL5A2):c.615G>A (p.Gly205=)
|
rs757199738
|
0.00001
|
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile)
|
rs746289356
|
0.00001
|
NM_000393.5(COL5A2):c.687G>A (p.Gln229=)
|
rs1010903537
|
0.00001
|
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu)
|
rs1335028282
|
0.00001
|
NM_000393.5(COL5A2):c.690+17T>C
|
rs1171215082
|
0.00001
|
NM_000393.5(COL5A2):c.690+9C>G
|
rs745863682
|
0.00001
|
NM_000393.5(COL5A2):c.691-15T>G
|
rs756189756
|
0.00001
|
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser)
|
rs763287143
|
0.00001
|
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly)
|
rs773748617
|
0.00001
|
NM_000393.5(COL5A2):c.798+15C>T
|
rs1476791697
|
0.00001
|
NM_000393.5(COL5A2):c.798+5G>A
|
rs1296613540
|
0.00001
|
NM_000393.5(COL5A2):c.799-7C>A
|
rs879227018
|
0.00001
|
NM_000393.5(COL5A2):c.852+4A>T
|
rs376981154
|
0.00001
|
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr)
|
rs146648810
|
0.00001
|
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys)
|
rs779241228
|
0.00001
|
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly)
|
rs780865605
|
0.00001
|
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu)
|
rs754230712
|
0.00001
|
NM_000393.5(COL5A2):c.911A>G (p.His304Arg)
|
rs1576513195
|
0.00001
|
NM_000393.5(COL5A2):c.961-10T>G
|
rs770126461
|
0.00001
|
NM_000393.5(COL5A2):c.969T>C (p.Ala323=)
|
rs781515066
|
0.00001
|
GRCh37/hg19 2q32.2(chr2:189895110-189961917)
|
|
|
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
|
|
|
NC_000002.11:g.(?_189898796)_(189953518_?)dup
|
|
|
NC_000002.11:g.(?_189913190)_(189918176_?)del
|
|
|
NC_000002.12:g.(?_189078506)_(189081053_?)del
|
|
|
NC_000002.12:g.(?_189100087)_(189100159_?)del
|
|
|
NM_000393.5(COL5A2):c.*1331C>G
|
rs146947961
|
|
NM_000393.5(COL5A2):c.*1465G>T
|
rs886055348
|
|
NM_000393.5(COL5A2):c.*1668C>G
|
rs772852972
|
|
NM_000393.5(COL5A2):c.*1764G>T
|
rs554165132
|
|
NM_000393.5(COL5A2):c.*1894C>A
|
rs886055347
|
|
NM_000393.5(COL5A2):c.*589_*590del
|
rs200554257
|
|
NM_000393.5(COL5A2):c.*590dup
|
rs200554257
|
|
NM_000393.5(COL5A2):c.*694TA[1]
|
rs886055351
|
|
NM_000393.5(COL5A2):c.*716A>G
|
rs886055350
|
|
NM_000393.5(COL5A2):c.-16_-15insCTAACCCACATCAT
|
rs765138557
|
|
NM_000393.5(COL5A2):c.-37del
|
rs922043222
|
|
NM_000393.5(COL5A2):c.1005+4T>C
|
|
|
NM_000393.5(COL5A2):c.1005+5G>T
|
rs752557532
|
|
NM_000393.5(COL5A2):c.1005+7G>A
|
rs1402008959
|
|
NM_000393.5(COL5A2):c.1006-11A>G
|
|
|
NM_000393.5(COL5A2):c.1006-19del
|
|
|
NM_000393.5(COL5A2):c.1006-20T>C
|
|
|
NM_000393.5(COL5A2):c.1006-9C>G
|
rs73978832
|
|
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln)
|
rs766349082
|
|
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
|
|
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
|
|
|
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser)
|
|
|
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=)
|
rs863223488
|
|
NM_000393.5(COL5A2):c.1059+11_1059+12del
|
|
|
NM_000393.5(COL5A2):c.1059+120del
|
rs5837122
|
|
NM_000393.5(COL5A2):c.1059+6T>C
|
|
|
NM_000393.5(COL5A2):c.1059+8T>G
|
|
|
NM_000393.5(COL5A2):c.1060-7T>C
|
rs754055737
|
|
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
|
|
|
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
|
|
|
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
|
|
|
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
|
|
|
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)
|
rs76148000
|
|
NM_000393.5(COL5A2):c.10A>C (p.Asn4His)
|
rs1426460695
|
|
NM_000393.5(COL5A2):c.10A>G (p.Asn4Asp)
|
|
|
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu)
|
rs776312058
|
|
NM_000393.5(COL5A2):c.1102A>G (p.Met368Val)
|
|
|
NM_000393.5(COL5A2):c.1105-11T>G
|
rs1057523251
|
|
NM_000393.5(COL5A2):c.1105-13T>A
|
|
|
NM_000393.5(COL5A2):c.1105-3T>C
|
rs886038289
|
|
NM_000393.5(COL5A2):c.1105G>A (p.Gly369Ser)
|
|
|
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
|
|
|
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
|
|
|
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
|
|
|
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp)
|
rs886042913
|
|
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro)
|
|
|
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu)
|
rs1576507871
|
|
NM_000393.5(COL5A2):c.1158+20A>G
|
|
|
NM_000393.5(COL5A2):c.1158+3A>G
|
|
|
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=)
|
rs2105613322
|
|
NM_000393.5(COL5A2):c.1159-11C>T
|
|
|
NM_000393.5(COL5A2):c.1159-12G>C
|
|
|
NM_000393.5(COL5A2):c.1159-16C>T
|
|
|
NM_000393.5(COL5A2):c.1159-18C>T
|
|
|
NM_000393.5(COL5A2):c.1159-1G>A
|
|
|
NM_000393.5(COL5A2):c.1159-60_2031+62dup
|
|
|
NM_000393.5(COL5A2):c.1159-8C>T
|
rs1273116792
|
|
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
|
|
|
NM_000393.5(COL5A2):c.1167_1181del (p.Gly390_Ala394del)
|
|
|
NM_000393.5(COL5A2):c.1171C>T (p.Pro391Ser)
|
rs2105605678
|
|
NM_000393.5(COL5A2):c.1171_1172delinsGT (p.Pro391Val)
|
|
|
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile)
|
rs1553515880
|
|
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=)
|
rs1553515878
|
|
NM_000393.5(COL5A2):c.117A>T (p.Ile39=)
|
rs1060504379
|
|
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln)
|
rs766119748
|
|
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
|
rs1686209873
|
|
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr)
|
rs1559108874
|
|
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu)
|
rs1189039397
|
|
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
|
|
|
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val)
|
rs758092388
|
|
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
|
|
|
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly)
|
rs1686209467
|
|
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
|
|
|
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
|
|
|
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser)
|
rs1042644306
|
|
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu)
|
|
|
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala)
|
rs1430271322
|
|
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
|
|
|
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe)
|
|
|
NM_000393.5(COL5A2):c.1246C>T (p.Pro416Ser)
|
rs1412825331
|
|
NM_000393.5(COL5A2):c.1255C>T (p.Pro419Ser)
|
rs1245178744
|
|
NM_000393.5(COL5A2):c.1257+11A>G
|
|
|
NM_000393.5(COL5A2):c.1257+12G>A
|
rs759316090
|
|
NM_000393.5(COL5A2):c.1257+13C>A
|
|
|
NM_000393.5(COL5A2):c.1257+5G>C
|
rs1553515867
|
|
NM_000393.5(COL5A2):c.1258-91T>G
|
rs184264860
|
|
NM_000393.5(COL5A2):c.1261G>T (p.Ala421Ser)
|
|
|
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
|
|
|
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys)
|
rs145850743
|
|
NM_000393.5(COL5A2):c.1302+17T>C
|
|
|
NM_000393.5(COL5A2):c.1302+20C>T
|
|
|
NM_000393.5(COL5A2):c.1303-8T>C
|
|
|
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
|
|
|
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
|
|
|
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
|
|
|
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr)
|
|
|
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser)
|
rs1008978987
|
|
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
|
rs1686191596
|
|
NM_000393.5(COL5A2):c.1339G>C (p.Gly447Arg)
|
|
|
NM_000393.5(COL5A2):c.1340G>A (p.Gly447Glu)
|
rs2105603621
|
|
NM_000393.5(COL5A2):c.134G>A (p.Gly45Asp)
|
|
|
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=)
|
rs886055357
|
|
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
|
|
|
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro)
|
rs548441536
|
|
NM_000393.5(COL5A2):c.1354C>T (p.Pro452Ser)
|
|
|
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser)
|
rs1686191057
|
|
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu)
|
|
|
NM_000393.5(COL5A2):c.1366G>T (p.Gly456Cys)
|
rs2105603501
|
|
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly)
|
rs1686190878
|
|
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu)
|
|
|
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser)
|
|
|
NM_000393.5(COL5A2):c.1373C>G (p.Thr458Ser)
|
rs863223489
|
|
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu)
|
rs2105603424
|
|
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val)
|
rs886039081
|
|
NM_000393.5(COL5A2):c.1397A>C (p.Gln466Pro)
|
rs1021216183
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
NM_000393.5(COL5A2):c.1402-10T>A
|
|
|
NM_000393.5(COL5A2):c.1402-13A>G
|
|
|
NM_000393.5(COL5A2):c.1402-17C>T
|
|
|
NM_000393.5(COL5A2):c.1402-2A>G
|
|
|
NM_000393.5(COL5A2):c.1402-3C>T
|
|
|
NM_000393.5(COL5A2):c.1402-5T>C
|
|
|
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=)
|
rs1686161677
|
|
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly)
|
rs1553515681
|
|
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)
|
|
|
NM_000393.5(COL5A2):c.141G>A (p.Met47Ile)
|
rs1553519048
|
|
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=)
|
rs368133226
|
|
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu)
|
|
|
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=)
|
rs1686160458
|
|
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala)
|
|
|
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr)
|
|
|
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala)
|
|
|
NM_000393.5(COL5A2):c.1455+20A>T
|
rs2105600190
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1455+6G>T
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1455+6del
|
rs763475800
|
|
NM_000393.5(COL5A2):c.1456-11G>A
|
|
|
NM_000393.5(COL5A2):c.1456-16C>T
|
|
|
NM_000393.5(COL5A2):c.1456-17C>A
|
|
|
NM_000393.5(COL5A2):c.1456-3C>G
|
|
|
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
|
|
|
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
|
|
|
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
|
|
|
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro)
|
rs149305351
|
|
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
|
|
|
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
|
|
|
NM_000393.5(COL5A2):c.1475G>A (p.Gly492Asp)
|
rs2105599619
|
|
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
|
|
|
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
|
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1494T>C (p.Gly498=)
|
|
|
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
|
|
|
NM_000393.5(COL5A2):c.150C>T (p.Asn50=)
|
rs1559108847
|
|
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu)
|
rs1234716349
|
|
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
|
|
|
NM_000393.5(COL5A2):c.1518A>T (p.Arg506Ser)
|
rs1553515645
|
|
NM_000393.5(COL5A2):c.151A>C (p.Arg51=)
|
|
|
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
|
|
|
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
|
|
|
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
|
|
|
NM_000393.5(COL5A2):c.1534G>A (p.Val512Ile)
|
rs1022068246
|
|
NM_000393.5(COL5A2):c.1539T>C (p.Gly513=)
|
|
|
NM_000393.5(COL5A2):c.153G>A (p.Arg51=)
|
rs1057523986
|
|
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu)
|
|
|
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu)
|
rs371125581
|
|
NM_000393.5(COL5A2):c.1555G>A (p.Gly519Arg)
|
|
|
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly)
|
|
|
NM_000393.5(COL5A2):c.1563+11A>G
|
|
|
NM_000393.5(COL5A2):c.1563+2T>G
|
|
|
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
|
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His)
|
rs1260469713
|
|
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp)
|
rs2105595796
|
|
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala)
|
rs772872008
|
|
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
|
|
|
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg)
|
rs1576503605
|
|
NM_000393.5(COL5A2):c.1617+12del
|
|
|
NM_000393.5(COL5A2):c.1617+17A>G
|
|
|
NM_000393.5(COL5A2):c.1617+4A>G
|
rs1553515517
|
|
NM_000393.5(COL5A2):c.1617+8T>G
|
|
|
NM_000393.5(COL5A2):c.1617+9G>A
|
|
|
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn)
|
|
|
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
|
|
|
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
|
|
|
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=)
|
rs745880832
|
|
NM_000393.5(COL5A2):c.1627G>A (p.Gly543Arg)
|
|
|
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys)
|
rs863223500
|
|
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln)
|
|
|
NM_000393.5(COL5A2):c.1642G>A (p.Val548Ile)
|
|
|
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg)
|
rs778171609
|
|
NM_000393.5(COL5A2):c.1651T>C (p.Ser551Pro)
|
rs2105594391
|
|
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
|
|
|
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
|
|
|
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu)
|
|
|
NM_000393.5(COL5A2):c.167C>T (p.Pro56Leu)
|
|
|
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
|
|
|
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_000393.5(COL5A2):c.1691G>A (p.Gly564Glu)
|
rs2105594273
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
|
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=)
|
rs1576503230
|
|
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro)
|
rs760408439
|
|
NM_000393.5(COL5A2):c.1716+13C>T
|
|
|
NM_000393.5(COL5A2):c.1716+5G>A
|
rs863223504
|
|
NM_000393.5(COL5A2):c.1716+7A>G
|
rs1057520896
|
|
NM_000393.5(COL5A2):c.1717-10T>G
|
|
|
NM_000393.5(COL5A2):c.1717-15G>T
|
|
|
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT
|
rs150346155
|
|
NM_000393.5(COL5A2):c.1717-9dup
|
|
|
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val)
|
|
|
NM_000393.5(COL5A2):c.1728A>C (p.Gly576=)
|
|
|
NM_000393.5(COL5A2):c.1737T>C (p.Gly579=)
|
|
|
NM_000393.5(COL5A2):c.173C>A (p.Pro58His)
|
rs766925699
|
|
NM_000393.5(COL5A2):c.1753G>A (p.Gly585Arg)
|
rs1686090076
|
|
NM_000393.5(COL5A2):c.1770+12A>T
|
rs915090349
|
|
NM_000393.5(COL5A2):c.1770+14A>G
|
|
|
NM_000393.5(COL5A2):c.1770+4A>G
|
|
|
NM_000393.5(COL5A2):c.1770+6T>C
|
rs1686089547
|
|
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=)
|
|
|
NM_000393.5(COL5A2):c.1771-7T>A
|
|
|
NM_000393.5(COL5A2):c.1771-7_1771-6insTA
|
rs777484785
|
|
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=)
|
rs2105591117
|
|
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
|
|
|
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)
|
rs145169816
|
|
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val)
|
rs768939237
|
|
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys)
|
rs1060501906
|
|
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly)
|
|
|
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val)
|
rs2105590990
|
|
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu)
|
|
|
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr)
|
|
|
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
|
|
|
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala)
|
rs1553515338
|
|
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
|
|
|
NM_000393.5(COL5A2):c.180G>A (p.Gln60=)
|
rs759303686
|
|
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=)
|
rs1576502365
|
|
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val)
|
rs2105590952
|
|
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
|
|
|
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val)
|
|
|
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del)
|
rs1687236750
|
|
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
|
|
|
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His)
|
|
|
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala)
|
rs1438423994
|
|
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
|
|
|
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
|
|
|
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
|
|
|
NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)
|
rs1559085751
|
|
NM_000393.5(COL5A2):c.1853G>A (p.Gly618Asp)
|
rs751229175
|
|
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
|
|
|
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn)
|
|
|
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn)
|
rs2105590768
|
|
NM_000393.5(COL5A2):c.1869+12G>A
|
|
|
NM_000393.5(COL5A2):c.1869+14A>G
|
|
|
NM_000393.5(COL5A2):c.1869+16A>G
|
|
|
NM_000393.5(COL5A2):c.1869+3G>A
|
|
|
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
|
|
|
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
|
|
|
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
|
|
|
NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)
|
|
|
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
|
|
|
NM_000393.5(COL5A2):c.191G>C (p.Cys64Ser)
|
|
|
NM_000393.5(COL5A2):c.1923+3dup
|
rs1553515318
|
|
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
|
|
|
NM_000393.5(COL5A2):c.1924-11T>C
|
|
|
NM_000393.5(COL5A2):c.1924-17T>C
|
|
|
NM_000393.5(COL5A2):c.1924-2_1928del
|
rs786205103
|
|
NM_000393.5(COL5A2):c.1924-3T>A
|
rs794727471
|
|
NM_000393.5(COL5A2):c.1924-4C>G
|
rs1559085578
|
|
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)
|
rs1559085564
|
|
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
|
|
|
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu)
|
rs766743234
|
|
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
|
|
|
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=)
|
rs1686065633
|
|
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser)
|
rs1686065578
|
|
NM_000393.5(COL5A2):c.1973C>A (p.Pro658Gln)
|
rs746458284
|
|
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
|
|
|
NM_000393.5(COL5A2):c.1977+10T>C
|
|
|
NM_000393.5(COL5A2):c.1977+12T>C
|
rs202204374
|
|
NM_000393.5(COL5A2):c.1977+13dup
|
|
|
NM_000393.5(COL5A2):c.1977+1G>A
|
rs1576502045
|
|
NM_000393.5(COL5A2):c.1977+4T>C
|
rs1686064895
|
|
NM_000393.5(COL5A2):c.1977+6T>A
|
rs863223486
|
|
NM_000393.5(COL5A2):c.1977+8A>G
|
|
|
NM_000393.5(COL5A2):c.1977+9T>C
|
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000393.5(COL5A2):c.1978-6A>G
|
|
|
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
|
|
|
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
|
|
|
NM_000393.5(COL5A2):c.2009C>A (p.Pro670His)
|
|
|
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=)
|
rs2105586702
|
|
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=)
|
rs2105586689
|
|
NM_000393.5(COL5A2):c.2031+1G>A
|
|
|
NM_000393.5(COL5A2):c.2031+1G>T
|
rs786205104
|
|
NM_000393.5(COL5A2):c.2031+49dup
|
rs369656754
|
|
NM_000393.5(COL5A2):c.2031+58T>A
|
|
|
NM_000393.5(COL5A2):c.2031+59del
|
rs369656754
|
|
NM_000393.5(COL5A2):c.2031+68del
|
rs111688859
|
|
NM_000393.5(COL5A2):c.2031+6C>T
|
rs1686033754
|
|
NM_000393.5(COL5A2):c.2032-13A>T
|
|
|
NM_000393.5(COL5A2):c.2032-3T>C
|
|
|
NM_000393.5(COL5A2):c.2032-3T>G
|
|
|
NM_000393.5(COL5A2):c.2032-57T>C
|
rs13416565
|
|
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=)
|
rs1553515128
|
|
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu)
|
rs1019506931
|
|
NM_000393.5(COL5A2):c.204C>A (p.Ala68=)
|
rs1553519038
|
|
NM_000393.5(COL5A2):c.2055_2057delinsAGG (p.Pro686Gly)
|
rs1064795111
|
|
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=)
|
rs2105584664
|
|
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys)
|
|
|
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala)
|
rs541711311
|
|
NM_000393.5(COL5A2):c.2072A>C (p.Lys691Thr)
|
rs142224646
|
|
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg)
|
rs142224646
|
|
NM_000393.5(COL5A2):c.2075C>G (p.Pro692Arg)
|
rs863223492
|
|
NM_000393.5(COL5A2):c.2085+10T>C
|
|
|
NM_000393.5(COL5A2):c.2085+19A>G
|
rs2105584543
|
|
NM_000393.5(COL5A2):c.2086-12del
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12del
|
rs5837121
|
|
NM_000393.5(COL5A2):c.2086-13_2086-12dup
|
|
|
NM_000393.5(COL5A2):c.2086-23dup
|
rs5837121
|
|
NM_000393.5(COL5A2):c.208C>T (p.Leu70Phe)
|
|
|
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr)
|
rs146005731
|
|
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)
|
|
|
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
|
|
|
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
|
|
|
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
|
|
|
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
|
|
|
NM_000393.5(COL5A2):c.2130+13A>G
|
|
|
NM_000393.5(COL5A2):c.2130+16T>G
|
|
|
NM_000393.5(COL5A2):c.2130+1G>A
|
rs2105579086
|
|
NM_000393.5(COL5A2):c.2131-15C>A
|
|
|
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
|
|
|
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
|
|
|
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
|
|
|
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu)
|
rs1553514920
|
|
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=)
|
rs1272808206
|
|
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=)
|
rs1307423893
|
|
NM_000393.5(COL5A2):c.217A>G (p.Lys73Glu)
|
|
|
NM_000393.5(COL5A2):c.2181C>T (p.Leu727=)
|
|
|
NM_000393.5(COL5A2):c.2189A>T (p.Glu730Val)
|
|
|
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
|
|
|
NM_000393.5(COL5A2):c.2194G>A (p.Gly732Arg)
|
rs1553514917
|
|
NM_000393.5(COL5A2):c.2200G>A (p.Ala734Thr)
|
|
|
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro)
|
rs1559083259
|
|
NM_000393.5(COL5A2):c.2223C>G (p.Gly741=)
|
|
|
NM_000393.5(COL5A2):c.2229+14T>G
|
|
|
NM_000393.5(COL5A2):c.2229+15G>A
|
|
|
NM_000393.5(COL5A2):c.2229+8T>C
|
|
|
NM_000393.5(COL5A2):c.2232C>A (p.Gly744=)
|
|
|
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile)
|
rs2105575470
|
|
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=)
|
rs928855762
|
|
NM_000393.5(COL5A2):c.2261A>G (p.Asp754Gly)
|
|
|
NM_000393.5(COL5A2):c.2264C>G (p.Thr755Arg)
|
rs2105575372
|
|
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)
|
|
|
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu)
|
|
|
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
|
|
|
NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)
|
|
|
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu)
|
rs150260969
|
|
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=)
|
|
|
NM_000393.5(COL5A2):c.2297A>G (p.Glu766Gly)
|
rs2105575251
|
|
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=)
|
rs369130743
|
|
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
|
|
|
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg)
|
rs1357408674
|
|
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
|
|
|
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
|
|
|
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly)
|
rs1032000194
|
|
NM_000393.5(COL5A2):c.2337+11T>C
|
|
|
NM_000393.5(COL5A2):c.2337+18_2337+29del
|
|
|
NM_000393.5(COL5A2):c.2337+29del
|
rs34715449
|
|
NM_000393.5(COL5A2):c.2337+8C>T
|
rs999144463
|
|
NM_000393.5(COL5A2):c.2337+8_2337+10del
|
|
|
NM_000393.5(COL5A2):c.2337+8_2337+11del
|
rs2105574989
|
|
NM_000393.5(COL5A2):c.2337+9dup
|
rs34715449
|
|
NM_000393.5(COL5A2):c.2338-12G>T
|
|
|
NM_000393.5(COL5A2):c.2338-15T>G
|
|
|
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
|
|
|
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
|
|
|
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser)
|
rs781215270
|
|
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys)
|
rs1198104925
|
|
NM_000393.5(COL5A2):c.2355A>G (p.Lys785=)
|
|
|
NM_000393.5(COL5A2):c.235G>A (p.Val79Met)
|
|
|
NM_000393.5(COL5A2):c.2381A>T (p.Asp794Val)
|
rs2105574022
|
|
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
|
|
|
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly)
|
rs2105573986
|
|
NM_000393.5(COL5A2):c.2391+5G>A
|
rs1553514799
|
|
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
|
|
|
NM_000393.5(COL5A2):c.2392-228A>C
|
rs114497915
|
|
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val)
|
|
|
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
|
|
|
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr)
|
|
|
NM_000393.5(COL5A2):c.2412C>T (p.Gly804=)
|
|
|
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn)
|
|
|
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val)
|
|
|
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)
|
|
|
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro)
|
|
|
NM_000393.5(COL5A2):c.2445+15G>A
|
rs767821578
|
|
NM_000393.5(COL5A2):c.2445+19A>C
|
|
|
NM_000393.5(COL5A2):c.2445+8A>G
|
|
|
NM_000393.5(COL5A2):c.2446-11C>T
|
|
|
NM_000393.5(COL5A2):c.2446-13A>G
|
|
|
NM_000393.5(COL5A2):c.2446-35_2446-9del
|
rs2105566377
|
|
NM_000393.5(COL5A2):c.2446-5T>C
|
rs1685846142
|
|
NM_000393.5(COL5A2):c.2446-7T>C
|
rs1685846268
|
|
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
|
|
|
NM_000393.5(COL5A2):c.2471T>A (p.Val824Asp)
|
|
|
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser)
|
rs1553519033
|
|
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=)
|
rs749675749
|
|
NM_000393.5(COL5A2):c.2489G>C (p.Arg830Pro)
|
|
|
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
|
|
|
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His)
|
rs1576496167
|
|
NM_000393.5(COL5A2):c.2499+10A>G
|
rs886055356
|
|
NM_000393.5(COL5A2):c.2499+16_2499+17dup
|
|
|
NM_000393.5(COL5A2):c.2499+19G>C
|
|
|
NM_000393.5(COL5A2):c.2499+6T>G
|
|
|
NM_000393.5(COL5A2):c.2499+8A>G
|
|
|
NM_000393.5(COL5A2):c.2499+9C>G
|
|
|
NM_000393.5(COL5A2):c.2500-14_2500-13del
|
rs2105565157
|
|
NM_000393.5(COL5A2):c.2500-16C>G
|
|
|
NM_000393.5(COL5A2):c.2500-17T>C
|
rs530643338
|
|
NM_000393.5(COL5A2):c.2500-5C>T
|
rs1306555149
|
|
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly)
|
rs367718811
|
|
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.250G>C (p.Asp84His)
|
rs745528957
|
|
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys)
|
|
|
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
|
|
|
NM_000393.5(COL5A2):c.2522C>T (p.Pro841Leu)
|
rs2105565020
|
|
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
|
|
|
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
|
|
|
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg)
|
rs368239207
|
|
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)
|
|
|
NM_000393.5(COL5A2):c.2549C>T (p.Pro850Leu)
|
rs863223493
|
|
NM_000393.5(COL5A2):c.2553+11C>T
|
|
|
NM_000393.5(COL5A2):c.2553+1G>T
|
|
|
NM_000393.5(COL5A2):c.2553+20C>T
|
|
|
NM_000393.5(COL5A2):c.2553+2del
|
rs1553514506
|
|
NM_000393.5(COL5A2):c.2553+5A>T
|
rs371072906
|
|
NM_000393.5(COL5A2):c.2554-10T>A
|
|
|
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr)
|
rs863223506
|
|
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu)
|
rs148430780
|
|
NM_000393.5(COL5A2):c.256G>A (p.Val86Ile)
|
rs1387694873
|
|
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu)
|
rs938162476
|
|
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
|
|
|
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys)
|
rs1685823479
|
|
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr)
|
|
|
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu)
|
rs143261719
|
|
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=)
|
rs757721541
|
|
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro)
|
rs1687234505
|
|
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys)
|
rs1553514451
|
|
NM_000393.5(COL5A2):c.2614G>A (p.Ala872Thr)
|
|
|
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
|
|
|
NM_000393.5(COL5A2):c.261G>T (p.Thr87=)
|
|
|
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu)
|
rs886039694
|
|
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
|
|
|
NM_000393.5(COL5A2):c.2634A>T (p.Gln878His)
|
|
|
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser)
|
rs760858324
|
|
NM_000393.5(COL5A2):c.2642C>T (p.Ala881Val)
|
rs1685821871
|
|
NM_000393.5(COL5A2):c.2647T>A (p.Ser883Thr)
|
|
|
NM_000393.5(COL5A2):c.2650C>A (p.Pro884Thr)
|
|
|
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser)
|
|
|
NM_000393.5(COL5A2):c.2661+10C>A
|
|
|
NM_000393.5(COL5A2):c.2661+10C>T
|
|
|
NM_000393.5(COL5A2):c.2661+11A>G
|
|
|
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
|
|
|
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA
|
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
|
|
|
NM_000393.5(COL5A2):c.2662-16G>C
|
|
|
NM_000393.5(COL5A2):c.2662-2A>G
|
|
|
NM_000393.5(COL5A2):c.2662-6A>G
|
|
|
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
|
|
|
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg)
|
rs2105563064
|
|
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
|
|
|
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
|
|
|
NM_000393.5(COL5A2):c.2715+14A>G
|
|
|
NM_000393.5(COL5A2):c.2715+15T>C
|
|
|
NM_000393.5(COL5A2):c.2715+4A>G
|
rs1553514423
|
|
NM_000393.5(COL5A2):c.2716-20A>G
|
|
|
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln)
|
rs730880065
|
|
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
|
|
|
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala)
|
rs150206569
|
|
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala)
|
rs1349278394
|
|
NM_000393.5(COL5A2):c.2769+10C>T
|
rs777299355
|
|
NM_000393.5(COL5A2):c.2769+13A>C
|
|
|
NM_000393.5(COL5A2):c.2769+14G>C
|
|
|
NM_000393.5(COL5A2):c.2769+20C>T
|
|
|
NM_000393.5(COL5A2):c.2769+2dup
|
|
|
NM_000393.5(COL5A2):c.2770-14_2770-11del
|
|
|
NM_000393.5(COL5A2):c.2770-14del
|
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
NM_000393.5(COL5A2):c.2770-166_2770-162del
|
rs144410979
|
|
NM_000393.5(COL5A2):c.2770-18C>T
|
|
|
NM_000393.5(COL5A2):c.2770-20T>G
|
rs1553514295
|
|
NM_000393.5(COL5A2):c.2770-4C>T
|
rs1576494559
|
|
NM_000393.5(COL5A2):c.2770-6T>A
|
|
|
NM_000393.5(COL5A2):c.2780G>C (p.Gly927Ala)
|
|
|
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu)
|
rs747843876
|
|
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu)
|
|
|
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val)
|
|
|
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=)
|
|
|
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro)
|
rs730880067
|
|
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
|
|
|
NM_000393.5(COL5A2):c.2806G>A (p.Gly936Arg)
|
rs1471655044
|
|
NM_000393.5(COL5A2):c.2812G>A (p.Glu938Lys)
|
rs2105559330
|
|
NM_000393.5(COL5A2):c.2816G>A (p.Gly939Glu)
|
|
|
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu)
|
|
|
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=)
|
rs1576494477
|
|
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
|
|
|
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro)
|
rs761988412
|
|
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg)
|
rs1685785467
|
|
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu)
|
rs868695034
|
|
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
|
|
|
NM_000393.5(COL5A2):c.2838C>T (p.Asp946=)
|
|
|
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala)
|
rs1027615025
|
|
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg)
|
rs761035694
|
|
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000393.5(COL5A2):c.2854C>A (p.Arg952Ser)
|
rs199530997
|
|
NM_000393.5(COL5A2):c.2859G>A (p.Val953=)
|
rs1685784025
|
|
NM_000393.5(COL5A2):c.2862A>G (p.Gly954=)
|
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.2871A>G (p.Gly957=)
|
|
|
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser)
|
rs957007431
|
|
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
|
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
|
|
|
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
|
|
|
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=)
|
rs2105558761
|
|
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
|
|
|
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr)
|
rs1457897938
|
|
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
|
|
|
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=)
|
rs2105558694
|
|
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
|
|
|
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=)
|
rs2105558672
|
|
NM_000393.5(COL5A2):c.2908G>A (p.Asp970Asn)
|
rs2105558665
|
|
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
|
rs1685782021
|
|
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
|
|
|
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
|
|
|
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser)
|
rs1576494351
|
|
NM_000393.5(COL5A2):c.292C>T (p.Gln98Ter)
|
rs2105711947
|
|
NM_000393.5(COL5A2):c.2931+10G>A
|
|
|
NM_000393.5(COL5A2):c.2931+12G>A
|
|
|
NM_000393.5(COL5A2):c.2931+17C>T
|
|
|
NM_000393.5(COL5A2):c.2931+5G>T
|
|
|
NM_000393.5(COL5A2):c.2932-11C>T
|
rs1158417509
|
|
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg)
|
rs2153508067
|
|
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser)
|
rs2153508066
|
|
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His)
|
|
|
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)
|
rs1576493931
|
|
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)
|
rs1685766586
|
|
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
|
|
|
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=)
|
rs933589600
|
|
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=)
|
rs933589600
|
|
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe)
|
|
|
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu)
|
|
|
NM_000393.5(COL5A2):c.2993C>T (p.Pro998Leu)
|
rs863223494
|
|
NM_000393.5(COL5A2):c.2997G>C (p.Gly999=)
|
|
|
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly)
|
|
|
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys)
|
rs863223507
|
|
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
|
|
|
NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro)
|
|
|
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
|
|
|
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
|
|
|
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln)
|
|
|
NM_000393.5(COL5A2):c.3039+13A>G
|
|
|
NM_000393.5(COL5A2):c.3039+15C>A
|
rs114619770
|
|
NM_000393.5(COL5A2):c.3039+16G>A
|
|
|
NM_000393.5(COL5A2):c.3039+282_3039+288del
|
rs11277110
|
|
NM_000393.5(COL5A2):c.3039+8G>A
|
|
|
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=)
|
rs751945982
|
|
NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
|
|
|
NM_000393.5(COL5A2):c.3040-19A>G
|
|
|
NM_000393.5(COL5A2):c.3040-7A>G
|
rs1236877990
|
|
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
|
|
|
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
|
|
|
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
|
|
|
NM_000393.5(COL5A2):c.3049G>C (p.Gly1017Arg)
|
|
|
NM_000393.5(COL5A2):c.3056T>C (p.Val1019Ala)
|
|
|
NM_000393.5(COL5A2):c.305G>A (p.Gly102Asp)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
|
|
|
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val)
|
rs1685736900
|
|
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
|
|
|
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
|
|
|
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=)
|
rs774936724
|
|
NM_000393.5(COL5A2):c.3093T>C (p.Pro1031=)
|
|
|
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
|
rs1685735868
|
|
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=)
|
rs2153507896
|
|
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser)
|
rs1576493048
|
|
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
|
|
|
NM_000393.5(COL5A2):c.3116C>G (p.Ser1039Cys)
|
rs1367927256
|
|
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp)
|
|
|
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile)
|
rs1186405696
|
|
NM_000393.5(COL5A2):c.3128T>G (p.Val1043Gly)
|
rs2153507890
|
|
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr)
|
|
|
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln)
|
rs1685734191
|
|
NM_000393.5(COL5A2):c.3147+12A>G
|
|
|
NM_000393.5(COL5A2):c.3147+1G>A
|
rs1685734160
|
|
NM_000393.5(COL5A2):c.3147+243A>C
|
rs13383366
|
|
NM_000393.5(COL5A2):c.3147+295dup
|
rs397811419
|
|
NM_000393.5(COL5A2):c.3147+298dup
|
rs5837119
|
|
NM_000393.5(COL5A2):c.3147+5_3147+16del
|
|
|
NM_000393.5(COL5A2):c.3148-2A>G
|
rs1553513971
|
|
NM_000393.5(COL5A2):c.3148-6T>G
|
|
|
NM_000393.5(COL5A2):c.3148-9T>A
|
|
|
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser)
|
rs2153507740
|
|
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
|
|
|
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
|
|
|
NM_000393.5(COL5A2):c.3171C>A (p.Thr1057=)
|
|
|
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
|
|
|
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=)
|
rs374549843
|
|
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro)
|
|
|
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
|
rs778501601
|
|
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile)
|
rs1576577162
|
|
NM_000393.5(COL5A2):c.3200G>C (p.Arg1067Pro)
|
|
|
NM_000393.5(COL5A2):c.3201+15A>C
|
|
|
NM_000393.5(COL5A2):c.3201+17T>A
|
|
|
NM_000393.5(COL5A2):c.3201+1G>T
|
|
|
NM_000393.5(COL5A2):c.3202-17A>G
|
|
|
NM_000393.5(COL5A2):c.3202G>A (p.Gly1068Ser)
|
rs1332988061
|
|
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
|
|
|
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)
|
|
|
NM_000393.5(COL5A2):c.322+10T>A
|
rs2105711790
|
|
NM_000393.5(COL5A2):c.322+7A>G
|
|
|
NM_000393.5(COL5A2):c.3226G>C (p.Ala1076Pro)
|
rs2153507378
|
|
NM_000393.5(COL5A2):c.323-9T>A
|
rs1553518634
|
|
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
|
|
|
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
|
|
|
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
|
|
|
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp)
|
rs1559076883
|
|
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
|
|
|
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
|
|
|
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
|
|
|
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp)
|
|
|
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg)
|
rs1576490680
|
|
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu)
|
|
|
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
|
|
|
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu)
|
rs863223501
|
|
NM_000393.5(COL5A2):c.3307C>A (p.Pro1103Thr)
|
rs1685654238
|
|
NM_000393.5(COL5A2):c.3309+1G>A
|
rs1553513657
|
|
NM_000393.5(COL5A2):c.3309+20C>T
|
rs2153507358
|
|
NM_000393.5(COL5A2):c.3309+5G>A
|
rs2153507363
|
|
NM_000393.5(COL5A2):c.3309+6G>A
|
rs775681859
|
|
NM_000393.5(COL5A2):c.3309+6G>T
|
rs775681859
|
|
NM_000393.5(COL5A2):c.3309+7A>G
|
rs1553513652
|
|
NM_000393.5(COL5A2):c.3309+9G>A
|
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000393.5(COL5A2):c.3310-132CA[11]
|
rs111268949
|
|
NM_000393.5(COL5A2):c.3310-132CA[13]
|
rs111268949
|
|
NM_000393.5(COL5A2):c.3310-19dup
|
rs767565265
|
|
NM_000393.5(COL5A2):c.3310-4T>G
|
rs2153507285
|
|
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val)
|
rs1167178682
|
|
NM_000393.5(COL5A2):c.3322C>A (p.Pro1108Thr)
|
|
|
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser)
|
rs1685640502
|
|
NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr)
|
|
|
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser)
|
|
|
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val)
|
rs981465775
|
|
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
|
|
|
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu)
|
|
|
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)
|
rs1553513577
|
|
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
|
|
|
NM_000393.5(COL5A2):c.336+181del
|
rs147860045
|
|
NM_000393.5(COL5A2):c.336+3A>T
|
rs762140704
|
|
NM_000393.5(COL5A2):c.3363+17del
|
|
|
NM_000393.5(COL5A2):c.3363+18_3363+21del
|
|
|
NM_000393.5(COL5A2):c.3364-10C>G
|
|
|
NM_000393.5(COL5A2):c.3364-18C>T
|
|
|
NM_000393.5(COL5A2):c.3364-5T>A
|
|
|
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
|
|
|
NM_000393.5(COL5A2):c.337-152C>G
|
rs55905390
|
|
NM_000393.5(COL5A2):c.337-15T>C
|
|
|
NM_000393.5(COL5A2):c.337-17T>C
|
|
|
NM_000393.5(COL5A2):c.337-212dup
|
rs143135434
|
|
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg)
|
|
|
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His)
|
|
|
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
|
|
|
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)
|
rs747946828
|
|
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn)
|
|
|
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly)
|
|
|
NM_000393.5(COL5A2):c.3399T>C (p.His1133=)
|
|
|
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
|
|
|
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln)
|
rs562950263
|
|
NM_000393.5(COL5A2):c.3426G>A (p.Lys1142=)
|
|
|
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp)
|
rs1685595072
|
|
NM_000393.5(COL5A2):c.3432C>T (p.His1144=)
|
rs1685594948
|
|
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
|
|
|
NM_000393.5(COL5A2):c.3443C>T (p.Thr1148Ile)
|
rs762080305
|
|
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=)
|
rs2153507006
|
|
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
|
rs121912930
|
|
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=)
|
rs1576488965
|
|
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn)
|
rs2105690115
|
|
NM_000393.5(COL5A2):c.3465C>A (p.Gly1155=)
|
|
|
NM_000393.5(COL5A2):c.3465C>G (p.Gly1155=)
|
|
|
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
|
|
|
NM_000393.5(COL5A2):c.3471+11C>T
|
|
|
NM_000393.5(COL5A2):c.3471+17_3471+20del
|
|
|
NM_000393.5(COL5A2):c.3472-11T>G
|
|
|
NM_000393.5(COL5A2):c.3472-3T>A
|
|
|
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
|
rs1685586746
|
|
NM_000393.5(COL5A2):c.3490G>T (p.Gly1164Ter)
|
|
|
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu)
|
rs863223508
|
|
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
|
|
|
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
|
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His)
|
rs2153506953
|
|
NM_000393.5(COL5A2):c.3521C>T (p.Pro1174Leu)
|
|
|
NM_000393.5(COL5A2):c.3524G>A (p.Arg1175Lys)
|
|
|
NM_000393.5(COL5A2):c.3525+15G>A
|
|
|
NM_000393.5(COL5A2):c.3525+15G>T
|
rs2153506949
|
|
NM_000393.5(COL5A2):c.3525+207G>A
|
rs10195023
|
|
NM_000393.5(COL5A2):c.3525+20A>C
|
|
|
NM_000393.5(COL5A2):c.3526-17G>C
|
|
|
NM_000393.5(COL5A2):c.3526-5T>G
|
|
|
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln)
|
rs1060501905
|
|
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser)
|
|
|
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys)
|
rs1057524163
|
|
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=)
|
rs1553513205
|
|
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=)
|
rs2153506821
|
|
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
|
|
|
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
|
|
|
NM_000393.5(COL5A2):c.3592C>T (p.Pro1198Ser)
|
|
|
NM_000393.5(COL5A2):c.3598G>A (p.Gly1200Ser)
|
rs1057518566
|
|
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val)
|
rs1685564185
|
|
NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile)
|
rs1685564109
|
|
NM_000393.5(COL5A2):c.3605G>A (p.Arg1202Gln)
|
|
|
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp)
|
rs1576488066
|
|
NM_000393.5(COL5A2):c.3613G>T (p.Val1205Leu)
|
rs377660244
|
|
NM_000393.5(COL5A2):c.3625G>C (p.Gly1209Arg)
|
|
|
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys)
|
|
|
NM_000393.5(COL5A2):c.3633+14G>A
|
|
|
NM_000393.5(COL5A2):c.3633+17T>C
|
|
|
NM_000393.5(COL5A2):c.3633+9A>T
|
|
|
NM_000393.5(COL5A2):c.3634-3T>C
|
|
|
NM_000393.5(COL5A2):c.3634-4T>C
|
|
|
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg)
|
|
|
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp)
|
|
|
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His)
|
|
|
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
|
|
|
NM_000393.5(COL5A2):c.3645_3662del (p.Glu1216_Gly1221del)
|
rs1553512960
|
|
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
|
|
|
NM_000393.5(COL5A2):c.3656C>A (p.Pro1219Gln)
|
|
|
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)
|
rs1685515304
|
|
NM_000393.5(COL5A2):c.3662G>A (p.Gly1221Asp)
|
rs1064796676
|
|
NM_000393.5(COL5A2):c.3675C>T (p.Pro1225=)
|
rs1576486602
|
|
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
|
|
|
NM_000393.5(COL5A2):c.3689C>T (p.Thr1230Ile)
|
|
|
NM_000393.5(COL5A2):c.369+1G>T
|
rs1559104199
|
|
NM_000393.5(COL5A2):c.369+20T>A
|
rs1057523292
|
|
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
|
|
|
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
|
|
|
NM_000393.5(COL5A2):c.3691G>A (p.Ala1231Thr)
|
|
|
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro)
|
rs1263127952
|
|
NM_000393.5(COL5A2):c.370-9A>T
|
rs2105686943
|
|
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=)
|
rs1057524370
|
|
NM_000393.5(COL5A2):c.3707T>A (p.Ile1236Asn)
|
|
|
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val)
|
rs1685513453
|
|
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
|
|
|
NM_000393.5(COL5A2):c.3713G>A (p.Gly1238Glu)
|
rs2153506528
|
|
NM_000393.5(COL5A2):c.3721G>A (p.Asp1241Asn)
|
rs1576486531
|
|
NM_000393.5(COL5A2):c.3731T>A (p.Met1244Lys)
|
rs145100971
|
|
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)
|
rs145100971
|
|
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile)
|
rs780628821
|
|
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn)
|
|
|
NM_000393.5(COL5A2):c.3737A>G (p.Asp1246Gly)
|
|
|
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro)
|
rs2153506518
|
|
NM_000393.5(COL5A2):c.3747T>C (p.Pro1249=)
|
|
|
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys)
|
|
|
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
|
|
|
NM_000393.5(COL5A2):c.3755C>T (p.Thr1252Ile)
|
|
|
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=)
|
rs1576486483
|
|
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr)
|
|
|
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
|
|
|
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
|
|
|
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu)
|
rs1064795177
|
|
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val)
|
|
|
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe)
|
|
|
NM_000393.5(COL5A2):c.3823C>G (p.Leu1275Val)
|
|
|
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
|
|
|
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=)
|
rs2153506504
|
|
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
|
rs772344964
|
|
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys)
|
|
|
NM_000393.5(COL5A2):c.3852C>T (p.Ser1284=)
|
|
|
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu)
|
rs867460091
|
|
NM_000393.5(COL5A2):c.386del (p.Gly129fs)
|
rs2105686874
|
|
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val)
|
rs1251846979
|
|
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=)
|
rs1685508284
|
|
NM_000393.5(COL5A2):c.387del (p.Arg130fs)
|
rs2105686869
|
|
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
|
|
|
NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=)
|
rs886038290
|
|
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
|
|
|
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
|
|
|
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=)
|
rs532409377
|
|
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
|
|
|
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
|
|
|
NM_000393.5(COL5A2):c.3925+17C>G
|
rs1685506449
|
|
NM_000393.5(COL5A2):c.3926-14A>G
|
rs1377852358
|
|
NM_000393.5(COL5A2):c.3926-3T>C
|
rs1685452266
|
|
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp)
|
rs863223497
|
|
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
|
|
|
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
|
|
|
NM_000393.5(COL5A2):c.3948C>T (p.Asn1316=)
|
|
|
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys)
|
rs2153506166
|
|
NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg)
|
rs2153506165
|
|
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu)
|
rs1685452114
|
|
NM_000393.5(COL5A2):c.3967G>A (p.Ala1323Thr)
|
|
|
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=)
|
rs1131429
|
|
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=)
|
rs775697182
|
|
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
|
|
|
NM_000393.5(COL5A2):c.402+15C>T
|
|
|
NM_000393.5(COL5A2):c.402+17A>G
|
|
|
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys)
|
rs771310130
|
|
NM_000393.5(COL5A2):c.403-143T>C
|
rs72906358
|
|
NM_000393.5(COL5A2):c.403-15C>G
|
|
|
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=)
|
rs2153506152
|
|
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=)
|
rs1430568106
|
|
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)
|
rs1685449943
|
|
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu)
|
rs771590535
|
|
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
|
rs1157866285
|
|
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His)
|
rs745580343
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg)
|
rs761506002
|
|
NM_000393.5(COL5A2):c.4087G>A (p.Gly1363Ser)
|
rs2153506139
|
|
NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn)
|
|
|
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)
|
rs372226064
|
|
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg)
|
rs767685753
|
|
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
|
rs759631023
|
|
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
|
|
|
NM_000393.5(COL5A2):c.4113+16del
|
rs779762130
|
|
NM_000393.5(COL5A2):c.4113+17A>C
|
|
|
NM_000393.5(COL5A2):c.4113+18C>G
|
|
|
NM_000393.5(COL5A2):c.4113+3A>G
|
rs1685448298
|
|
NM_000393.5(COL5A2):c.4113+90del
|
rs142224900
|
|
NM_000393.5(COL5A2):c.4114-18_4114-17del
|
rs1440458273
|
|
NM_000393.5(COL5A2):c.4114-20A>G
|
rs1057523545
|
|
NM_000393.5(COL5A2):c.4114-20_4114-19del
|
|
|
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr)
|
rs1685418656
|
|
NM_000393.5(COL5A2):c.4122T>C (p.Tyr1374=)
|
|
|
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
|
|
|
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg)
|
rs863223498
|
|
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=)
|
rs2153505989
|
|
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
|
|
|
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
|
|
|
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=)
|
rs1685417610
|
|
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile)
|
|
|
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile)
|
rs1424971937
|
|
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn)
|
rs771415085
|
|
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile)
|
rs771415085
|
|
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
|
|
|
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
|
|
|
NM_000393.5(COL5A2):c.4174C>A (p.Leu1392Ile)
|
rs748999143
|
|
NM_000393.5(COL5A2):c.4176T>A (p.Leu1392=)
|
|
|
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
|
|
|
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=)
|
rs200888890
|
|
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
|
|
|
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=)
|
|
|
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly)
|
|
|
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr)
|
|
|
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
|
|
|
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)
|
rs979486002
|
|
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn)
|
|
|
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly)
|
rs1685415940
|
|
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
|
|
|
NM_000393.5(COL5A2):c.4235T>C (p.Met1412Thr)
|
rs1037904709
|
|
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
|
|
|
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
|
|
|
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
|
|
|
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
|
|
|
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
|
|
|
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)
|
rs141777954
|
|
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs)
|
rs1553512393
|
|
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
|
|
|
NM_000393.5(COL5A2):c.429A>G (p.Arg143=)
|
rs1488001302
|
|
NM_000393.5(COL5A2):c.4303G>A (p.Ala1435Thr)
|
rs2153505971
|
|
NM_000393.5(COL5A2):c.4308G>A (p.Glu1436=)
|
|
|
NM_000393.5(COL5A2):c.430G>A (p.Gly144Arg)
|
rs869025375
|
|
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
|
|
|
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
|
|
|
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=)
|
rs1685413573
|
|
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met)
|
rs138837670
|
|
NM_000393.5(COL5A2):c.4343A>G (p.Asp1448Gly)
|
rs1275257471
|
|
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)
|
|
|
NM_000393.5(COL5A2):c.4350C>T (p.Cys1450=)
|
|
|
NM_000393.5(COL5A2):c.4353+13T>A
|
|
|
NM_000393.5(COL5A2):c.4353+14G>C
|
|
|
NM_000393.5(COL5A2):c.4353+15A>T
|
rs375110145
|
|
NM_000393.5(COL5A2):c.4353+16T>C
|
|
|
NM_000393.5(COL5A2):c.4353+20C>T
|
|
|
NM_000393.5(COL5A2):c.4353+8C>G
|
rs1057523735
|
|
NM_000393.5(COL5A2):c.4354-6T>A
|
rs1576482939
|
|
NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)
|
|
|
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=)
|
rs1576482924
|
|
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=)
|
rs1553512315
|
|
NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)
|
|
|
NM_000393.5(COL5A2):c.437G>C (p.Arg146Pro)
|
rs144430633
|
|
NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly)
|
rs1685396293
|
|
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
|
|
|
NM_000393.5(COL5A2):c.439G>A (p.Gly147Arg)
|
|
|
NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)
|
|
|
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)
|
rs140109751
|
|
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
|
|
|
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
|
|
|
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
|
|
|
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val)
|
rs886039069
|
|
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
|
|
|
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly)
|
rs2153505892
|
|
NM_000393.5(COL5A2):c.4428T>C (p.Asp1476=)
|
|
|
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
|
|
|
NM_000393.5(COL5A2):c.4438G>C (p.Val1480Leu)
|
rs863223499
|
|
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=)
|
rs78905646
|
|
NM_000393.5(COL5A2):c.4464A>G (p.Glu1488=)
|
|
|
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)
|
rs775322653
|
|
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)
|
|
|
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)
|
|
|
NM_000393.5(COL5A2):c.4485A>T (p.Pro1495=)
|
|
|
NM_000393.5(COL5A2):c.4491T>C (p.Cys1497=)
|
|
|
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=)
|
rs1249280287
|
|
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
|
|
|
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr)
|
rs1553518198
|
|
NM_000393.5(COL5A2):c.456+10C>T
|
|
|
NM_000393.5(COL5A2):c.456+18C>T
|
rs887004952
|
|
NM_000393.5(COL5A2):c.456+3A>C
|
|
|
NM_000393.5(COL5A2):c.457-12C>T
|
rs1387666560
|
|
NM_000393.5(COL5A2):c.457-18A>G
|
|
|
NM_000393.5(COL5A2):c.457-6T>A
|
rs756707881
|
|
NM_000393.5(COL5A2):c.459C>T (p.Gly153=)
|
rs2105668392
|
|
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu)
|
|
|
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala)
|
rs1686807213
|
|
NM_000393.5(COL5A2):c.479T>C (p.Ile160Thr)
|
rs1177082898
|
|
NM_000393.5(COL5A2):c.500C>A (p.Pro167His)
|
|
|
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
|
|
|
NM_000393.5(COL5A2):c.519A>C (p.Pro173=)
|
rs1553517803
|
|
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr)
|
rs886055358
|
|
NM_000393.5(COL5A2):c.534T>A (p.His178Gln)
|
|
|
NM_000393.5(COL5A2):c.534T>C (p.His178=)
|
|
|
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
|
|
|
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
|
|
|
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
|
|
|
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe)
|
rs2105831569
|
|
NM_000393.5(COL5A2):c.54A>G (p.Leu18=)
|
rs2105831569
|
|
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
|
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
|
rs775933907
|
|
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
|
|
|
NM_000393.5(COL5A2):c.567+15T>C
|
|
|
NM_000393.5(COL5A2):c.567+16T>G
|
|
|
NM_000393.5(COL5A2):c.567+3G>A
|
|
|
NM_000393.5(COL5A2):c.568-15A>G
|
rs1057522247
|
|
NM_000393.5(COL5A2):c.568-166_568-163del
|
rs75422763
|
|
NM_000393.5(COL5A2):c.568-276_568-272dup
|
rs141172366
|
|
NM_000393.5(COL5A2):c.568-316_3525+41del
|
|
|
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu)
|
rs774969990
|
|
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro)
|
rs142855115
|
|
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
|
|
|
NM_000393.5(COL5A2):c.615G>C (p.Gly205=)
|
rs757199738
|
|
NM_000393.5(COL5A2):c.622G>A (p.Val208Ile)
|
rs2105658300
|
|
NM_000393.5(COL5A2):c.624_644del (p.Leu210_Gly216del)
|
|
|
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu)
|
rs1686718032
|
|
NM_000393.5(COL5A2):c.638G>C (p.Gly213Ala)
|
rs753789459
|
|
NM_000393.5(COL5A2):c.645+116CATT[6]
|
rs5837124
|
|
NM_000393.5(COL5A2):c.645+12T>G
|
rs2105658220
|
|
NM_000393.5(COL5A2):c.645+5G>A
|
|
|
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
|
|
|
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
|
|
|
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
|
rs201941612
|
|
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg)
|
rs1553517410
|
|
NM_000393.5(COL5A2):c.682G>A (p.Gly228Arg)
|
rs2105652981
|
|
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg)
|
rs1686671999
|
|
NM_000393.5(COL5A2):c.690+12T>G
|
|
|
NM_000393.5(COL5A2):c.690+13A>G
|
|
|
NM_000393.5(COL5A2):c.690+14T>C
|
|
|
NM_000393.5(COL5A2):c.690+5G>T
|
rs1576517517
|
|
NM_000393.5(COL5A2):c.690A>G (p.Gln230=)
|
|
|
NM_000393.5(COL5A2):c.691-18C>A
|
rs1440268271
|
|
NM_000393.5(COL5A2):c.691-20T>C
|
|
|
NM_000393.5(COL5A2):c.691G>A (p.Gly231Ser)
|
rs1396123186
|
|
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
|
|
|
NM_000393.5(COL5A2):c.698C>T (p.Ala233Val)
|
rs863223487
|
|
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser)
|
rs2105650411
|
|
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg)
|
|
|
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala)
|
|
|
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln)
|
rs1688743702
|
|
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr)
|
rs1686643340
|
|
NM_000393.5(COL5A2):c.744+13_744+16del
|
|
|
NM_000393.5(COL5A2):c.744+17C>G
|
|
|
NM_000393.5(COL5A2):c.744+19T>C
|
|
|
NM_000393.5(COL5A2):c.744+7G>A
|
rs774993105
|
|
NM_000393.5(COL5A2):c.744+8T>A
|
rs2105650306
|
|
NM_000393.5(COL5A2):c.744+9C>T
|
rs1576516888
|
|
NM_000393.5(COL5A2):c.745-19T>C
|
|
|
NM_000393.5(COL5A2):c.745-4T>C
|
rs781426004
|
|
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)
|
rs556805686
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
|
|
|
NM_000393.5(COL5A2):c.785A>C (p.Lys262Thr)
|
rs1064795517
|
|
NM_000393.5(COL5A2):c.797A>T (p.Asp266Val)
|
|
|
NM_000393.5(COL5A2):c.798+10C>A
|
|
|
NM_000393.5(COL5A2):c.798+10del
|
|
|
NM_000393.5(COL5A2):c.798+6C>T
|
|
|
NM_000393.5(COL5A2):c.799-13T>A
|
rs2105645853
|
|
NM_000393.5(COL5A2):c.799-15dup
|
rs1169314276
|
|
NM_000393.5(COL5A2):c.799-18A>G
|
|
|
NM_000393.5(COL5A2):c.799-7C>T
|
rs879227018
|
|
NM_000393.5(COL5A2):c.799-8C>T
|
|
|
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
|
|
|
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser)
|
rs1553517181
|
|
NM_000393.5(COL5A2):c.834G>A (p.Val278=)
|
|
|
NM_000393.5(COL5A2):c.852+13T>G
|
rs2105645578
|
|
NM_000393.5(COL5A2):c.852+250G>A
|
rs10166867
|
|
NM_000393.5(COL5A2):c.852+309del
|
rs376308674
|
|
NM_000393.5(COL5A2):c.852+8T>C
|
rs2105645627
|
|
NM_000393.5(COL5A2):c.853-13G>A
|
rs1553516867
|
|
NM_000393.5(COL5A2):c.853-17_853-14del
|
|
|
NM_000393.5(COL5A2):c.853-3C>G
|
|
|
NM_000393.5(COL5A2):c.853-8C>T
|
|
|
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
|
|
|
NM_000393.5(COL5A2):c.861T>G (p.Arg287=)
|
rs1559094497
|
|
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
|
|
|
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)
|
rs1211991688
|
|
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser)
|
rs1686522348
|
|
NM_000393.5(COL5A2):c.894G>C (p.Leu298=)
|
rs186775192
|
|
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
|
|
|
NM_000393.5(COL5A2):c.897G>C (p.Lys299Asn)
|
|
|
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
|
|
|
NM_000393.5(COL5A2):c.905G>A (p.Arg302Gln)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.906+12C>G
|
rs1057521955
|
|
NM_000393.5(COL5A2):c.906+20A>G
|
|
|
NM_000393.5(COL5A2):c.907-12T>G
|
|
|
NM_000393.5(COL5A2):c.907-18T>C
|
|
|
NM_000393.5(COL5A2):c.907-19T>C
|
|
|
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
|
|
|
NM_000393.5(COL5A2):c.917G>C (p.Gly306Ala)
|
|
|
NM_000393.5(COL5A2):c.918T>A (p.Gly306=)
|
|
|
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp)
|
|
|
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr)
|
|
|
NM_000393.5(COL5A2):c.929C>T (p.Pro310Leu)
|
|
|
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
|
|
|
NM_000393.5(COL5A2):c.93G>A (p.Glu31=)
|
|
|
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
|
|
|
NM_000393.5(COL5A2):c.948A>C (p.Ala316=)
|
|
|
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro)
|
rs1060501908
|
|
NM_000393.5(COL5A2):c.960+11A>G
|
|
|
NM_000393.5(COL5A2):c.961-11dup
|
rs542134887
|
|
NM_000393.5(COL5A2):c.961-15C>T
|
|
|
NM_000393.5(COL5A2):c.961-18A>G
|
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|
NM_000393.5(COL5A2):c.964G>A (p.Glu322Lys)
|
|
|
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro)
|
rs2105632778
|
|
NM_000393.5(COL5A2):c.97+10C>T
|
|
|
NM_000393.5(COL5A2):c.97+15T>C
|
|
|
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp)
|
rs2105632746
|
|
NM_000393.5(COL5A2):c.978T>C (p.Thr326=)
|
rs1053327487
|
|
NM_000393.5(COL5A2):c.98-10C>T
|
rs2105712624
|
|
NM_000393.5(COL5A2):c.98-1G>T
|
rs2105712615
|
|
NM_000393.5(COL5A2):c.98-22_98-18del
|
|
|
NM_000393.5(COL5A2):c.982C>T (p.Pro328Ser)
|
|
|
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
|
|
|
NM_000393.5(COL5A2):c.986T>C (p.Met329Thr)
|
|
|
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp)
|
rs753514566
|
|
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)
|
|
|
Single allele
|
|
|