NM_000093.5(COL5A1):c.-247T>G
|
rs71483234
|
0.99656
|
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.315C>A (p.Thr105=)
|
rs4128539
|
0.93266
|
NM_000393.5(COL5A2):c.322+157C>T
|
rs4128538
|
0.86911
|
NM_000089.4(COL1A2):c.936+14C>T
|
rs42518
|
0.81710
|
NM_000089.4(COL1A2):c.937-3C>T
|
rs42519
|
0.81243
|
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
|
rs42524
|
0.80779
|
NM_000093.5(COL5A1):c.*83C>T
|
rs13946
|
0.76018
|
NM_000093.5(COL5A1):c.4955-28T>C
|
rs7868111
|
0.71059
|
NM_000093.5(COL5A1):c.4608+31T>C
|
rs9697186
|
0.65324
|
NM_000093.5(COL5A1):c.2701-22C>T
|
rs4072883
|
0.65253
|
NM_000093.5(COL5A1):c.1332+92C>G
|
rs3124310
|
0.64521
|
NM_000093.5(COL5A1):c.4230+103T>C
|
rs11792894
|
0.61932
|
NM_000093.5(COL5A1):c.1432-5T>C
|
rs3128612
|
0.57159
|
NM_000093.5(COL5A1):c.1432-24C>T
|
rs3109677
|
0.57123
|
NM_000093.5(COL5A1):c.2952+11A>T
|
rs4240707
|
0.51337
|
NM_000093.5(COL5A1):c.2845-37A>G
|
rs3811159
|
0.48658
|
NM_000093.5(COL5A1):c.4176+48A>G
|
rs10858283
|
0.47462
|
NM_000093.5(COL5A1):c.4176+35A>C
|
rs10776910
|
0.47443
|
NM_000093.5(COL5A1):c.*267C>T
|
rs12722
|
0.43648
|
NM_000093.5(COL5A1):c.1332+46T>C
|
rs3109675
|
0.41683
|
NM_000093.5(COL5A1):c.787-42C>T
|
rs3124302
|
0.39339
|
NM_000093.5(COL5A1):c.925-49A>G
|
rs3124308
|
0.39183
|
NM_000093.5(COL5A1):c.925-43G>A
|
rs3128598
|
0.39167
|
NM_000093.5(COL5A1):c.2430+20C>T
|
rs3124932
|
0.36473
|
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)
|
rs412777
|
0.35874
|
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)
|
rs3124299
|
0.34823
|
NM_000093.5(COL5A1):c.4230+118C>T
|
rs7847840
|
0.32683
|
NM_000093.5(COL5A1):c.4176+9T>G
|
rs10858282
|
0.31743
|
NM_000093.5(COL5A1):c.1569+16A>G
|
rs12685946
|
0.29746
|
NM_000089.4(COL1A2):c.1665+15A>G
|
rs421587
|
0.28734
|
NM_000093.5(COL5A1):c.1720-48T>C
|
rs10123014
|
0.27505
|
NM_000089.4(COL1A2):c.246T>C (p.Asp82=)
|
rs1800222
|
0.25224
|
NM_000093.5(COL5A1):c.3475-42G>C
|
rs3811152
|
0.22492
|
NM_000093.5(COL5A1):c.1570-59T>C
|
rs12686426
|
0.22376
|
NM_000093.5(COL5A1):c.1720-34C>T
|
rs73558067
|
0.20873
|
NM_000093.5(COL5A1):c.1332+25C>T
|
rs56385965
|
0.19286
|
NM_000093.5(COL5A1):c.4177-107T>C
|
rs7854010
|
0.19207
|
NM_000093.5(COL5A1):c.2431-25G>A
|
rs41310213
|
0.16712
|
NM_000093.5(COL5A1):c.1720-47C>T
|
rs79679217
|
0.15948
|
NM_000093.5(COL5A1):c.1827+45G>A
|
rs11103502
|
0.15221
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
NM_000393.5(COL5A2):c.852+14C>T
|
rs56310996
|
0.14063
|
NM_000093.5(COL5A1):c.1936-35C>A
|
rs10858278
|
0.13121
|
NM_000393.5(COL5A2):c.568-10G>A
|
rs58106884
|
0.13056
|
NM_000393.5(COL5A2):c.337-26T>C
|
rs56380683
|
0.13043
|
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
|
rs1801182
|
0.12315
|
NM_000093.5(COL5A1):c.3745-37G>A
|
rs45629034
|
0.10800
|
NM_000093.5(COL5A1):c.3745-18G>A
|
rs45556931
|
0.10766
|
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)
|
rs10197596
|
0.09320
|
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)
|
rs10208525
|
0.09281
|
NM_000393.5(COL5A2):c.*1402T>G
|
rs11186
|
0.09269
|
NM_000093.5(COL5A1):c.2593-45G>A
|
rs45497895
|
0.08250
|
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)
|
rs41306391
|
0.08110
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
NM_000393.5(COL5A2):c.*392T>C
|
rs1131518
|
0.07495
|
NM_000093.5(COL5A1):c.2646+27C>T
|
rs13301426
|
0.07414
|
NM_000393.5(COL5A2):c.*298G>A
|
rs7586
|
0.07221
|
NM_000093.5(COL5A1):c.110-34C>T
|
rs72772548
|
0.07019
|
NM_000093.5(COL5A1):c.*311C>T
|
rs1134114
|
0.06809
|
NM_000393.5(COL5A2):c.315= (p.Thr105=)
|
rs4128539
|
0.06734
|
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)
|
rs61729545
|
0.06122
|
NM_000393.5(COL5A2):c.*639G>A
|
rs73981487
|
0.05878
|
NM_000393.5(COL5A2):c.*1165G>A
|
rs13914
|
0.04890
|
NM_000093.5(COL5A1):c.4447-45G>A
|
rs3811147
|
0.04567
|
NM_000093.5(COL5A1):c.2745+15A>T
|
rs79481146
|
0.04340
|
NM_000393.5(COL5A2):c.1311= (p.Pro437=)
|
rs2229495
|
0.04238
|
NM_000093.5(COL5A1):c.3475-36A>C
|
rs13297647
|
0.03921
|
NM_000093.5(COL5A1):c.3528+43G>A
|
rs41306395
|
0.03911
|
NM_000393.5(COL5A2):c.3411= (p.Gly1137=)
|
rs6434312
|
0.03908
|
NM_000093.5(COL5A1):c.2700+46C>T
|
rs34636935
|
0.03889
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=)
|
rs78511105
|
0.03168
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_000089.4(COL1A2):c.3712-13C>T
|
rs74335369
|
0.03051
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
NM_000089.4(COL1A2):c.1878G>T (p.Val626=)
|
rs1800238
|
0.02599
|
NM_000093.5(COL5A1):c.4393-9C>T
|
rs11792181
|
0.02555
|
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=)
|
rs41310207
|
0.02534
|
NM_000093.5(COL5A1):c.2232+36C>T
|
rs45622539
|
0.02468
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
NM_000093.5(COL5A1):c.*1642G>A
|
rs116053626
|
0.02360
|
NM_000093.5(COL5A1):c.*1922G>A
|
rs74979726
|
0.02332
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_000393.5(COL5A2):c.*2131T>A
|
rs113513554
|
0.02206
|
NM_000093.5(COL5A1):c.2034+24C>T
|
rs41298367
|
0.02041
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_000089.4(COL1A2):c.82-12A>G
|
rs143689469
|
0.01736
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000093.5(COL5A1):c.4955-16C>T
|
rs112712705
|
0.01710
|
NM_000093.5(COL5A1):c.5067+20C>G
|
rs112600748
|
0.01689
|
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.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000093.5(COL5A1):c.5068-7T>C
|
rs113256540
|
0.01472
|
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.*1960A>G
|
rs76482660
|
0.01355
|
NM_000393.5(COL5A2):c.*1379A>G
|
rs114330868
|
0.01303
|
NM_000093.5(COL5A1):c.2799+4T>C
|
rs75815945
|
0.01279
|
NM_000393.5(COL5A2):c.*515C>T
|
rs113311693
|
0.01221
|
NM_000393.5(COL5A2):c.*46C>A
|
rs112739705
|
0.01217
|
NM_000093.5(COL5A1):c.925-44C>T
|
rs41302966
|
0.01210
|
NM_000393.5(COL5A2):c.403-16T>A
|
rs117085226
|
0.01199
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)
|
rs61729481
|
0.01170
|
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)
|
rs115570272
|
0.01007
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_000093.5(COL5A1):c.4699-6C>T
|
rs113090154
|
0.00923
|
NM_000393.5(COL5A2):c.2661+20G>A
|
rs79623676
|
0.00876
|
NM_000093.5(COL5A1):c.-110A>G
|
rs180741151
|
0.00852
|
NM_000093.5(COL5A1):c.5136+152C>T
|
rs113504942
|
0.00827
|
NM_000393.5(COL5A2):c.-34C>T
|
rs114102476
|
0.00807
|
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
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.370-16C>T
|
rs148220961
|
0.00748
|
NM_000093.5(COL5A1):c.787-15G>A
|
rs150200872
|
0.00704
|
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.249C>T (p.Ala83=)
|
rs142388534
|
0.00687
|
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=)
|
rs61737941
|
0.00682
|
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=)
|
rs62001059
|
0.00679
|
NM_000093.5(COL5A1):c.5136+40A>G
|
rs183298179
|
0.00678
|
NM_000093.5(COL5A1):c.*283G>A
|
rs114171895
|
0.00635
|
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)
|
rs61737708
|
0.00634
|
NM_000089.4(COL1A2):c.1036-12A>G
|
rs41316929
|
0.00613
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_000093.5(COL5A1):c.*14C>T
|
rs12553247
|
0.00580
|
NM_000393.5(COL5A2):c.*798A>G
|
rs116775405
|
0.00567
|
NM_000089.4(COL1A2):c.948C>T (p.Gly316=)
|
rs34511999
|
0.00566
|
NM_000093.5(COL5A1):c.4231-12G>A
|
rs188473199
|
0.00543
|
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)
|
rs62184175
|
0.00525
|
NM_000093.5(COL5A1):c.4393-17C>T
|
rs141152269
|
0.00515
|
NM_000093.5(COL5A1):c.5137-11T>C
|
rs183495554
|
0.00512
|
NM_000093.5(COL5A1):c.-37G>A
|
rs374979485
|
0.00508
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_000393.5(COL5A2):c.*391A>G
|
rs143552248
|
0.00486
|
NM_000393.5(COL5A2):c.2769+19A>T
|
rs111609220
|
0.00481
|
NM_000093.5(COL5A1):c.4955-48G>A
|
rs60879388
|
0.00480
|
NM_000393.5(COL5A2):c.*1852T>C
|
rs116255986
|
0.00479
|
NM_000393.5(COL5A2):c.2716-4C>T
|
rs111644889
|
0.00479
|
NM_000093.5(COL5A1):c.-382C>G
|
rs555826102
|
0.00465
|
NM_000093.5(COL5A1):c.2799+13C>A
|
rs75668257
|
0.00443
|
NM_000393.5(COL5A2):c.*525A>G
|
rs10195176
|
0.00418
|
NM_000089.4(COL1A2):c.2349+16G>C
|
rs112603291
|
0.00405
|
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=)
|
rs34691365
|
0.00404
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
NM_000393.5(COL5A2):c.*1076G>A
|
rs114123906
|
0.00382
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=)
|
rs34038163
|
0.00352
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
NM_000089.4(COL1A2):c.975A>T (p.Gly325=)
|
rs148063325
|
0.00340
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000093.5(COL5A1):c.573C>T (p.Leu191=)
|
rs116715381
|
0.00312
|
NM_000089.4(COL1A2):c.122G>A (p.Arg41His)
|
rs139528613
|
0.00310
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000093.5(COL5A1):c.240C>T (p.Asp80=)
|
rs79724538
|
0.00288
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000089.4(COL1A2):c.595-20C>T
|
rs192022673
|
0.00242
|
NM_000089.4(COL1A2):c.96+10C>T
|
rs185341110
|
0.00242
|
NM_000093.5(COL5A1):c.110-19T>C
|
rs148294644
|
0.00239
|
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=)
|
rs141688356
|
0.00235
|
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_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_000093.5(COL5A1):c.*58C>T
|
rs56259444
|
0.00207
|
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)
|
rs145281966
|
0.00199
|
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)
|
rs61729497
|
0.00194
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_000393.5(COL5A2):c.-50C>T
|
rs183260194
|
0.00192
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
NM_000093.5(COL5A1):c.277+6T>G
|
rs201910803
|
0.00174
|
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln)
|
rs73428220
|
0.00167
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_000093.5(COL5A1):c.-199C>T
|
rs183791719
|
0.00162
|
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln)
|
rs116003670
|
0.00162
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
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_000093.5(COL5A1):c.1539C>T (p.Pro513=)
|
rs151173863
|
0.00129
|
NM_000393.5(COL5A2):c.3039+15C>T
|
rs114619770
|
0.00125
|
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=)
|
rs201166370
|
0.00124
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
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_000093.5(COL5A1):c.4788G>C (p.Gly1596=)
|
rs138436047
|
0.00116
|
NM_000089.4(COL1A2):c.582T>G (p.Ala194=)
|
rs144540908
|
0.00113
|
NM_000093.5(COL5A1):c.3204+3G>A
|
rs202054108
|
0.00112
|
NM_000393.5(COL5A2):c.*436A>G
|
rs149313073
|
0.00110
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000093.5(COL5A1):c.924+13C>T
|
rs199836060
|
0.00106
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=)
|
rs78215347
|
0.00101
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000093.5(COL5A1):c.*1343A>G
|
rs77145856
|
0.00088
|
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val)
|
rs139788610
|
0.00087
|
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)
|
rs148590409
|
0.00087
|
NM_000093.5(COL5A1):c.3528+14C>T
|
rs371865645
|
0.00086
|
NM_000093.5(COL5A1):c.*187C>T
|
rs565085023
|
0.00085
|
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)
|
rs149212775
|
0.00083
|
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=)
|
rs35860166
|
0.00081
|
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)
|
rs75542756
|
0.00076
|
NM_000093.5(COL5A1):c.*865T>A
|
rs910306671
|
0.00073
|
NM_000393.5(COL5A2):c.2931+11C>T
|
rs184002749
|
0.00073
|
NM_000089.4(COL1A2):c.1971+18T>C
|
rs41317174
|
0.00072
|
NM_000089.4(COL1A2):c.1405-16A>G
|
rs73428205
|
0.00071
|
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=)
|
rs143858735
|
0.00071
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)
|
rs151027388
|
0.00069
|
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=)
|
rs1800253
|
0.00067
|
NM_000093.5(COL5A1):c.252C>T (p.Ser84=)
|
rs151293601
|
0.00066
|
NM_000393.5(COL5A2):c.186T>C (p.Cys62=)
|
rs142832916
|
0.00066
|
NM_000093.5(COL5A1):c.3115-14G>A
|
rs368945793
|
0.00065
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000393.5(COL5A2):c.2770-5A>G
|
rs370313198
|
0.00060
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=)
|
rs143318792
|
0.00058
|
NM_000093.5(COL5A1):c.2700+16C>T
|
rs371771646
|
0.00056
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
0.00047
|
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_000093.5(COL5A1):c.2751G>A (p.Pro917=)
|
rs200319017
|
0.00044
|
NM_000093.5(COL5A1):c.2089-9C>T
|
rs181246690
|
0.00041
|
NM_000093.5(COL5A1):c.924+14G>A
|
rs200595318
|
0.00041
|
NM_000093.5(COL5A1):c.126C>T (p.Leu42=)
|
rs149369116
|
0.00040
|
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=)
|
rs147292897
|
0.00038
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
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_000093.5(COL5A1):c.*424A>G
|
rs574355137
|
0.00037
|
NM_000093.5(COL5A1):c.*479G>A
|
rs184272423
|
0.00034
|
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)
|
rs149959668
|
0.00034
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
NM_000093.5(COL5A1):c.5370+11C>T
|
rs764644830
|
0.00032
|
NM_000393.5(COL5A2):c.*446G>A
|
rs570467727
|
0.00032
|
NM_000093.5(COL5A1):c.3006+17C>T
|
rs140528268
|
0.00031
|
NM_000393.5(COL5A2):c.2230-16T>A
|
rs375334470
|
0.00031
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_000093.5(COL5A1):c.2331+16G>A
|
rs199654385
|
0.00028
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_000093.5(COL5A1):c.5371-17G>A
|
rs376639668
|
0.00025
|
NM_000089.4(COL1A2):c.892-13C>G
|
rs200532328
|
0.00024
|
NM_000093.5(COL5A1):c.4393-19C>T
|
rs186732287
|
0.00024
|
NM_000093.5(COL5A1):c.*145G>A
|
rs181323324
|
0.00023
|
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val)
|
rs138068984
|
0.00022
|
NM_000089.4(COL1A2):c.981C>T (p.Arg327=)
|
rs141762645
|
0.00021
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
NM_000093.5(COL5A1):c.1774-7C>A
|
rs371941850
|
0.00021
|
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=)
|
rs375631252
|
0.00021
|
NM_000093.5(COL5A1):c.2844+20G>A
|
rs200916696
|
0.00019
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_000093.5(COL5A1):c.2799+11G>A
|
rs377322092
|
0.00018
|
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_000089.4(COL1A2):c.1353T>A (p.Gly451=)
|
rs545459178
|
0.00017
|
NM_000093.5(COL5A1):c.279G>A (p.Ala93=)
|
rs145090868
|
0.00017
|
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val)
|
rs145552797
|
0.00017
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=)
|
rs368551709
|
0.00016
|
NM_000093.5(COL5A1):c.5370+14G>A
|
rs201082330
|
0.00016
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
NM_000089.4(COL1A2):c.226-6C>A
|
rs199616511
|
0.00014
|
NM_000093.5(COL5A1):c.3114+12G>C
|
rs528913410
|
0.00014
|
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=)
|
rs371821655
|
0.00014
|
NM_000093.5(COL5A1):c.3906+19C>T
|
rs571788196
|
0.00014
|
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=)
|
rs200073020
|
0.00014
|
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=)
|
rs763068575
|
0.00014
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)
|
rs748345448
|
0.00013
|
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile)
|
rs145757313
|
0.00013
|
NM_000093.5(COL5A1):c.*1287C>T
|
rs189437752
|
0.00012
|
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)
|
rs201871481
|
0.00012
|
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys)
|
rs75648697
|
0.00012
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=)
|
rs199630108
|
0.00011
|
NM_000093.5(COL5A1):c.3528+19G>T
|
rs200672136
|
0.00011
|
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=)
|
rs146176718
|
0.00011
|
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)
|
rs747549921
|
0.00011
|
NM_000393.5(COL5A2):c.*561T>C
|
rs564981830
|
0.00011
|
NM_000393.5(COL5A2):c.1977+12T>G
|
rs202204374
|
0.00011
|
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=)
|
rs541912705
|
0.00010
|
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr)
|
rs370499963
|
0.00010
|
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu)
|
rs530442560
|
0.00010
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
NM_000093.5(COL5A1):c.2386-7C>T
|
rs746845504
|
0.00010
|
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)
|
rs368782334
|
0.00010
|
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)
|
rs148006741
|
0.00010
|
NM_000093.5(COL5A1):c.*608G>A
|
rs537858864
|
0.00009
|
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)
|
rs770793962
|
0.00009
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000093.5(COL5A1):c.1935+12C>T
|
rs368245632
|
0.00009
|
NM_000093.5(COL5A1):c.2134-11G>C
|
rs369317619
|
0.00009
|
NM_000093.5(COL5A1):c.2331+15C>T
|
rs369093559
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000093.5(COL5A1):c.3744+19C>T
|
rs200498760
|
0.00009
|
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg)
|
rs201801000
|
0.00009
|
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
|
rs761837954
|
0.00009
|
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)
|
rs138396959
|
0.00009
|
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln)
|
rs560106611
|
0.00009
|
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=)
|
rs367657505
|
0.00009
|
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=)
|
rs372869641
|
0.00009
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
NM_000093.5(COL5A1):c.1495-11C>A
|
rs199501759
|
0.00008
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)
|
rs200348547
|
0.00008
|
NM_000093.5(COL5A1):c.684G>A (p.Ser228=)
|
rs139705205
|
0.00008
|
NM_000093.5(COL5A1):c.-4C>G
|
rs769694875
|
0.00007
|
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=)
|
rs771885855
|
0.00007
|
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=)
|
rs564398230
|
0.00007
|
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu)
|
rs141605663
|
0.00007
|
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=)
|
rs145363211
|
0.00007
|
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln)
|
rs770896795
|
0.00007
|
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)
|
rs373448943
|
0.00007
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)
|
rs147434147
|
0.00007
|
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg)
|
rs863223467
|
0.00007
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala)
|
rs140105243
|
0.00007
|
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=)
|
rs765398195
|
0.00006
|
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=)
|
rs199580542
|
0.00006
|
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=)
|
rs201760437
|
0.00006
|
NM_000093.5(COL5A1):c.*2090C>T
|
rs578207933
|
0.00006
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=)
|
rs767002656
|
0.00006
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.4231-9G>A
|
rs570545638
|
0.00006
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)
|
rs777045810
|
0.00006
|
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu)
|
rs144844792
|
0.00006
|
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)
|
rs148548209
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000093.5(COL5A1):c.936G>A (p.Pro312=)
|
rs150364815
|
0.00006
|
NM_000393.5(COL5A2):c.1716+9A>G
|
rs201934598
|
0.00006
|
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)
|
rs772448543
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.4114-11T>C
|
rs587780908
|
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_000093.5(COL5A1):c.*302C>G
|
rs376087882
|
0.00005
|
NM_000093.5(COL5A1):c.*489A>G
|
rs142194317
|
0.00005
|
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=)
|
rs200245996
|
0.00005
|
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp)
|
rs745360062
|
0.00005
|
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=)
|
rs981088114
|
0.00005
|
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=)
|
rs377123592
|
0.00005
|
NM_000093.5(COL5A1):c.2593-15T>C
|
rs747677530
|
0.00005
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys)
|
rs1457110544
|
0.00005
|
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)
|
rs759580799
|
0.00005
|
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)
|
rs542783734
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln)
|
rs863223467
|
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_000089.4(COL1A2):c.2400C>T (p.Pro800=)
|
rs139913150
|
0.00004
|
NM_000089.4(COL1A2):c.48C>T (p.Thr16=)
|
rs780687409
|
0.00004
|
NM_000089.4(COL1A2):c.783T>C (p.Pro261=)
|
rs200436925
|
0.00004
|
NM_000093.5(COL5A1):c.12T>C (p.His4=)
|
rs368818087
|
0.00004
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln)
|
rs778297413
|
0.00004
|
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr)
|
rs372168541
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
NM_000093.5(COL5A1):c.1569+19C>T
|
rs373086315
|
0.00004
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=)
|
rs772257562
|
0.00004
|
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=)
|
rs367755808
|
0.00004
|
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu)
|
rs760539229
|
0.00004
|
NM_000093.5(COL5A1):c.2997C>T (p.Val999=)
|
rs201897490
|
0.00004
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)
|
rs201335857
|
0.00004
|
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu)
|
rs369971694
|
0.00004
|
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)
|
rs537768945
|
0.00004
|
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)
|
rs148687561
|
0.00004
|
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln)
|
rs369501428
|
0.00004
|
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=)
|
rs199637893
|
0.00004
|
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)
|
rs771354369
|
0.00004
|
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)
|
rs1005244744
|
0.00004
|
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu)
|
rs770737485
|
0.00004
|
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile)
|
rs762624092
|
0.00004
|
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu)
|
rs755909523
|
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.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000089.4(COL1A2):c.694-15T>C
|
rs779799840
|
0.00003
|
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys)
|
rs769752636
|
0.00003
|
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr)
|
rs755289850
|
0.00003
|
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His)
|
rs767752804
|
0.00003
|
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala)
|
rs535363331
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His)
|
rs371580094
|
0.00003
|
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=)
|
rs769239532
|
0.00003
|
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
|
rs747046727
|
0.00003
|
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala)
|
rs759627305
|
0.00003
|
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=)
|
rs766208976
|
0.00003
|
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu)
|
rs768531108
|
0.00003
|
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=)
|
rs760754491
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln)
|
rs141768094
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=)
|
rs551695730
|
0.00003
|
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu)
|
rs771130127
|
0.00003
|
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala)
|
rs749162303
|
0.00003
|
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)
|
rs759464073
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu)
|
rs375540141
|
0.00003
|
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln)
|
rs761802703
|
0.00003
|
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys)
|
rs753433375
|
0.00003
|
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile)
|
rs764763703
|
0.00003
|
NM_000093.5(COL5A1):c.5371-15C>T
|
rs369764872
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)
|
rs757434449
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)
|
rs149305351
|
0.00003
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn)
|
rs148288567
|
0.00002
|
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala)
|
rs747758069
|
0.00002
|
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val)
|
rs537424110
|
0.00002
|
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys)
|
rs763456705
|
0.00002
|
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)
|
rs962170388
|
0.00002
|
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=)
|
rs373460629
|
0.00002
|
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys)
|
rs755546104
|
0.00002
|
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn)
|
rs779170635
|
0.00002
|
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr)
|
rs749697867
|
0.00002
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys)
|
rs146348246
|
0.00002
|
NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu)
|
rs781363147
|
0.00002
|
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=)
|
rs779638584
|
0.00002
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=)
|
rs745918663
|
0.00002
|
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu)
|
rs863223459
|
0.00002
|
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp)
|
rs546865410
|
0.00002
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)
|
rs772523567
|
0.00002
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His)
|
rs193275092
|
0.00002
|
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln)
|
rs767300218
|
0.00002
|
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His)
|
rs150608071
|
0.00002
|
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser)
|
rs781230603
|
0.00002
|
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=)
|
rs200515325
|
0.00002
|
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)
|
rs781248560
|
0.00002
|
NM_000393.5(COL5A2):c.2661+13G>T
|
rs534626192
|
0.00002
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=)
|
rs529257786
|
0.00002
|
NM_000393.5(COL5A2):c.750G>A (p.Pro250=)
|
rs751819198
|
0.00002
|
NM_000393.5(COL5A2):c.906+10A>T
|
rs776578452
|
0.00002
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
NM_000093.5(COL5A1):c.*1260G>A
|
rs557696379
|
0.00001
|
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser)
|
rs751277764
|
0.00001
|
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)
|
rs777789161
|
0.00001
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu)
|
rs373102877
|
0.00001
|
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His)
|
rs760798318
|
0.00001
|
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu)
|
rs751337133
|
0.00001
|
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu)
|
rs778866843
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys)
|
rs764609002
|
0.00001
|
NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg)
|
rs143211526
|
0.00001
|
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn)
|
rs990265730
|
0.00001
|
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln)
|
rs146074704
|
0.00001
|
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu)
|
rs775102627
|
0.00001
|
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu)
|
rs1389473144
|
0.00001
|
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu)
|
rs1422097890
|
0.00001
|
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg)
|
rs769653444
|
0.00001
|
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys)
|
rs1032017865
|
0.00001
|
NM_000093.5(COL5A1):c.243G>A (p.Ala81=)
|
rs540291731
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr)
|
rs756903629
|
0.00001
|
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val)
|
rs781756159
|
0.00001
|
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser)
|
rs542939338
|
0.00001
|
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=)
|
rs749844592
|
0.00001
|
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu)
|
rs772211736
|
0.00001
|
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp)
|
rs1257715072
|
0.00001
|
NM_000093.5(COL5A1):c.277+9C>T
|
rs748589808
|
0.00001
|
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln)
|
rs768711320
|
0.00001
|
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg)
|
rs751950836
|
0.00001
|
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=)
|
rs750716466
|
0.00001
|
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr)
|
rs774095835
|
0.00001
|
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser)
|
rs536758248
|
0.00001
|
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=)
|
rs140590510
|
0.00001
|
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg)
|
rs771075651
|
0.00001
|
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.4015-19C>T
|
rs527971001
|
0.00001
|
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly)
|
rs765920886
|
0.00001
|
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu)
|
rs201875250
|
0.00001
|
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)
|
rs201582108
|
0.00001
|
NM_000093.5(COL5A1):c.458C>A (p.Pro153His)
|
rs771925785
|
0.00001
|
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)
|
rs775335297
|
0.00001
|
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser)
|
rs770278589
|
0.00001
|
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp)
|
rs758378927
|
0.00001
|
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr)
|
rs1024649360
|
0.00001
|
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=)
|
rs755728242
|
0.00001
|
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=)
|
rs778483767
|
0.00001
|
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)
|
rs730880064
|
0.00001
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val)
|
rs188120737
|
0.00001
|
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys)
|
rs375586129
|
0.00001
|
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr)
|
rs760992656
|
0.00001
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile)
|
rs946316218
|
0.00001
|
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg)
|
rs370607849
|
0.00001
|
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)
|
rs776748227
|
0.00001
|
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=)
|
rs754379329
|
0.00001
|
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met)
|
rs761036527
|
0.00001
|
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser)
|
rs863223482
|
0.00001
|
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys)
|
rs765170704
|
0.00001
|
NM_000093.5(COL5A1):c.595A>G (p.Ile199Val)
|
rs1041369357
|
0.00001
|
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp)
|
rs775853003
|
0.00001
|
NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln)
|
rs373597685
|
0.00001
|
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)
|
rs1312200383
|
0.00001
|
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu)
|
rs1445863121
|
0.00001
|
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)
|
rs746454126
|
0.00001
|
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)
|
rs1200990468
|
0.00001
|
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)
|
rs201299226
|
0.00001
|
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=)
|
rs574148843
|
0.00001
|
NM_000393.5(COL5A2):c.383G>A (p.Arg128His)
|
rs757439328
|
0.00001
|
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys)
|
rs758136981
|
0.00001
|
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)
|
rs531204336
|
0.00001
|
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu)
|
rs1335028282
|
0.00001
|
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly)
|
rs780865605
|
0.00001
|
NM_000089.4(COL1A2):c.1863+6dup
|
|
|
NM_000089.4(COL1A2):c.2079+15dup
|
|
|
NM_000089.4(COL1A2):c.2133+12C>A
|
rs554520173
|
|
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr)
|
rs541473356
|
|
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)
|
rs1800248
|
|
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly)
|
rs200278401
|
|
NM_000089.4(COL1A2):c.71-7del
|
rs144776919
|
|
NM_000089.4(COL1A2):c.71-7dup
|
rs144776919
|
|
NM_000089.4(COL1A2):c.71-8_71-7dup
|
rs144776919
|
|
NM_000089.4(COL1A2):c.81+11del
|
rs193922174
|
|
NM_000089.4(COL1A2):c.81+17_81+18del
|
rs1791612191
|
|
NM_000093.5(COL5A1):c.*1807G>C
|
rs374715103
|
|
NM_000093.5(COL5A1):c.*733C>A
|
rs3196378
|
|
NM_000093.5(COL5A1):c.*948C>G
|
rs142032213
|
|
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
|
|
|
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
|
|
|
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro)
|
rs766771487
|
|
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
|
|
|
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
|
|
|
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
|
|
|
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
|
|
|
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=)
|
rs199755089
|
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn)
|
|
|
NM_000093.5(COL5A1):c.1333-3dup
|
rs773903401
|
|
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met)
|
rs61736827
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
|
|
|
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
|
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
|
|
|
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
|
|
|
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=)
|
rs769010469
|
|
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
|
|
|
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
|
|
|
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys)
|
rs1258095362
|
|
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
|
|
|
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
|
|
|
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
|
|
|
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
|
|
|
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
|
|
|
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
|
|
|
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp)
|
rs780322561
|
|
NM_000093.5(COL5A1):c.1936-21G>A
|
rs77716946
|
|
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
|
|
|
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)
|
rs370766020
|
|
NM_000093.5(COL5A1):c.1990-12del
|
|
|
NM_000093.5(COL5A1):c.1990-12dup
|
rs1445580029
|
|
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
|
|
|
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
|
|
|
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
|
|
|
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
|
|
|
NM_000093.5(COL5A1):c.2133+14del
|
|
|
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
|
|
|
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
|
|
|
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=)
|
|
|
NM_000093.5(COL5A1):c.2332-3del
|
rs2132747868
|
|
NM_000093.5(COL5A1):c.2430+16C>T
|
rs530385215
|
|
NM_000093.5(COL5A1):c.2484+14G>A
|
rs371753763
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)
|
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser)
|
rs1254955559
|
|
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
|
|
|
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
|
|
|
NM_000093.5(COL5A1):c.2592+16C>G
|
rs145429817
|
|
NM_000093.5(COL5A1):c.2592+16C>T
|
rs145429817
|
|
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)
|
rs900216804
|
|
NM_000093.5(COL5A1):c.2700+19dup
|
|
|
NM_000093.5(COL5A1):c.2701-15dup
|
|
|
NM_000093.5(COL5A1):c.2746-11C>G
|
|
|
NM_000093.5(COL5A1):c.2800-18C>A
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
|
|
|
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu)
|
rs756440511
|
|
NM_000093.5(COL5A1):c.2899-7dup
|
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
|
|
|
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=)
|
|
|
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser)
|
rs187022757
|
|
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser)
|
rs774351619
|
|
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
|
|
|
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala)
|
rs751792216
|
|
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
|
|
|
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
|
|
|
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
|
|
|
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser)
|
rs1424921275
|
|
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
|
|
|
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr)
|
rs1160540030
|
|
NM_000093.5(COL5A1):c.3528+46G>C
|
rs3827850
|
|
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
|
|
|
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
|
|
|
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr)
|
rs1211791316
|
|
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr)
|
|
|
NM_000093.5(COL5A1):c.3906+15G>A
|
rs370937109
|
|
NM_000093.5(COL5A1):c.3906+15G>C
|
rs370937109
|
|
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
|
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala)
|
rs762699995
|
|
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg)
|
|
|
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
|
|
|
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met)
|
rs561761305
|
|
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu)
|
rs201335857
|
|
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser)
|
rs773125713
|
|
NM_000093.5(COL5A1):c.4393-13C>A
|
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)
|
|
|
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
|
|
|
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu)
|
rs373089071
|
|
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
|
|
|
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
|
|
|
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=)
|
rs61735501
|
|
NM_000093.5(COL5A1):c.4699-3del
|
rs1554808051
|
|
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
|
|
|
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile)
|
rs543014323
|
|
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln)
|
rs531431738
|
|
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)
|
rs149212775
|
|
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly)
|
rs145175057
|
|
NM_000093.5(COL5A1):c.4954+17dup
|
rs757067716
|
|
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
|
|
|
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
|
|
|
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
|
|
|
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
|
|
|
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
|
|
|
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
|
|
|
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
|
|
|
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=)
|
rs772597610
|
|
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)
|
rs201379514
|
|
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
|
|
|
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
|
|
|
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr)
|
rs769947722
|
|
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
|
|
|
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
|
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro)
|
|
|
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg)
|
rs377563294
|
|
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
|
|
|
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)
|
rs747656987
|
|
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
|
|
|
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
|
|
|
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu)
|
rs371351417
|
|
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
|
|
|
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
|
|
|
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
|
|
|
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr)
|
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
|
|
|
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
|
|
|
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
|
|
|
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
|
|
|
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
|
|
|
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu)
|
rs367726185
|
|
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
|
|
|
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu)
|
rs576742644
|
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val)
|
rs76148000
|
|
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
|
|
|
NM_000393.5(COL5A2):c.1455+6G>A
|
rs113512079
|
|
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=)
|
rs570269920
|
|
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
|
|
|
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
|
|
|
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
|
|
|
NM_000393.5(COL5A2):c.1717-9dup
|
|
|
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
|
|
|
NM_000393.5(COL5A2):c.1869+12G>A
|
|
|
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
|
|
|
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.2291C>T (p.Pro764Leu)
|
rs150260969
|
|
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
|
|
|
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro)
|
rs751683516
|
|
NM_000393.5(COL5A2):c.2661+20G>T
|
rs79623676
|
|
NM_000393.5(COL5A2):c.2770-15del
|
rs577038385
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro)
|
rs6434313
|
|
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3310-19dup
|
rs767565265
|
|
NM_000393.5(COL5A2):c.3363+17del
|
|
|
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
|
|
|
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
|
|
|
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
|
|
|
NM_000393.5(COL5A2):c.552C>T (p.Pro184=)
|
rs548352939
|
|
NM_000393.5(COL5A2):c.799-15dup
|
rs1169314276
|
|
NM_000393.5(COL5A2):c.961-11dup
|
rs542134887
|
|
NM_000393.5(COL5A2):c.961-3del
|
rs542134887
|
|