NM_001849.4(COL6A2):c.1521+212A>G
|
rs915785
|
0.99997
|
NM_001849.4(COL6A2):c.1609-134dup
|
rs5844253
|
0.99970
|
NM_001849.4(COL6A2):c.1333-198A>C
|
rs13051907
|
0.87582
|
NM_001849.4(COL6A2):c.1332+26A>G
|
rs3737362
|
0.82158
|
NM_001849.4(COL6A2):c.1117-218A>T
|
rs2070577
|
0.81646
|
NM_001849.4(COL6A2):c.1672-257T>C
|
rs2839111
|
0.81112
|
NM_001849.4(COL6A2):c.1771-25A>G
|
rs2839113
|
0.81072
|
NM_001849.4(COL6A2):c.1116+200G>A
|
rs7279535
|
0.72676
|
NM_001849.4(COL6A2):c.802-250T>G
|
rs8133910
|
0.70308
|
NM_001849.4(COL6A2):c.1116+221G>A
|
rs12483267
|
0.64517
|
NM_001849.4(COL6A2):c.2422+93T>C
|
rs13050660
|
0.59886
|
NM_001849.4(COL6A2):c.1333-229C>T
|
rs4458293
|
0.56432
|
NM_001849.4(COL6A2):c.2462-35C>T
|
rs7279622
|
0.54180
|
NM_001849.4(COL6A2):c.1116+32G>A
|
rs7279347
|
0.49217
|
NM_001849.4(COL6A2):c.1395+234G>A
|
rs743504
|
0.45766
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001849.4(COL6A2):c.1333-243C>T
|
rs2330397
|
0.45093
|
NM_001849.4(COL6A2):c.1333-169C>T
|
rs13051514
|
0.44761
|
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)
|
rs13046639
|
0.44460
|
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)
|
rs13052956
|
0.44458
|
NM_001849.4(COL6A2):c.2462-2239T>A
|
rs1044598
|
0.44226
|
NM_001849.4(COL6A2):c.-27-149C>T
|
rs13050828
|
0.43985
|
NM_001849.4(COL6A2):c.714+53C>T
|
rs1010688
|
0.43341
|
NM_001849.4(COL6A2):c.1572+148C>T
|
rs2070578
|
0.42712
|
NM_001849.4(COL6A2):c.2461+2100A>C
|
rs2839116
|
0.33720
|
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
NM_001849.4(COL6A2):c.1395+82G>A
|
rs743503
|
0.28903
|
NM_001849.4(COL6A2):c.1270-169T>C
|
rs9980483
|
0.27115
|
NM_001849.4(COL6A2):c.1179+101G>T
|
rs9917540
|
0.26285
|
NM_001849.4(COL6A2):c.1522-199_1522-198insT
|
rs113533729
|
0.19806
|
NM_001849.4(COL6A2):c.1609-155T>C
|
rs17272671
|
0.17125
|
NM_001849.4(COL6A2):c.1672-177T>C
|
rs2839112
|
0.15113
|
NM_001849.4(COL6A2):c.1734+35A>G
|
rs55933135
|
0.15106
|
NM_001849.4(COL6A2):c.1817-69T>C
|
rs16978870
|
0.15050
|
NM_001849.4(COL6A2):c.1332+286C>T
|
rs6147541
|
0.13705
|
NM_001849.4(COL6A2):c.2462-2358G>C
|
rs7717
|
0.12590
|
NM_001849.4(COL6A2):c.2462-2299T>C
|
rs559
|
0.12552
|
NM_001849.4(COL6A2):c.1522-36T>C
|
rs9976026
|
0.12352
|
NM_001849.4(COL6A2):c.1459-168A>G
|
rs1076850
|
0.11962
|
NM_001849.4(COL6A2):c.1521+21A>G
|
rs1077182
|
0.11912
|
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)
|
rs59531343
|
0.09859
|
NM_001849.4(COL6A2):c.1333-264G>A
|
rs73908533
|
0.09396
|
NM_001849.4(COL6A2):c.1332+293T>C
|
rs13047567
|
0.09327
|
NM_001849.4(COL6A2):c.714+45C>T
|
rs2070957
|
0.09326
|
NM_001849.4(COL6A2):c.1735-30A>G
|
rs73382466
|
0.09173
|
NM_001849.4(COL6A2):c.1332+290T>G
|
rs113862910
|
0.08743
|
NM_001849.4(COL6A2):c.2462-2255C>T
|
rs3088026
|
0.08440
|
NM_001849.4(COL6A2):c.2423-35C>A
|
rs16978878
|
0.07566
|
NM_001849.4(COL6A2):c.2422+112C>A
|
rs79666692
|
0.07152
|
NM_001849.4(COL6A2):c.1671+180C>T
|
rs78767263
|
0.07103
|
NM_001849.4(COL6A2):c.901-111C>T
|
rs2839109
|
0.06181
|
NM_001849.4(COL6A2):c.1735-72G>A
|
rs9981879
|
0.06148
|
NM_001849.4(COL6A2):c.1817-33C>T
|
rs2276101
|
0.06112
|
NM_001849.4(COL6A2):c.1770+4G>A
|
rs9981981
|
0.06098
|
NM_001849.4(COL6A2):c.1771-159G>A
|
rs73382469
|
0.06084
|
NM_001849.4(COL6A2):c.1000-168C>T
|
rs75988761
|
0.06042
|
NM_001849.4(COL6A2):c.714+62A>G
|
rs112472569
|
0.05824
|
NM_001849.4(COL6A2):c.2423-83T>C
|
rs17272947
|
0.05789
|
NM_001849.4(COL6A2):c.2462-2311A>G
|
rs73161620
|
0.05740
|
NM_001849.4(COL6A2):c.1672-37G>T
|
rs79205686
|
0.05715
|
NM_001849.4(COL6A2):c.1573-32C>T
|
rs17272651
|
0.05679
|
NM_001849.4(COL6A2):c.1970-23G>C
|
rs78764604
|
0.05599
|
NM_001849.4(COL6A2):c.901-125G>A
|
rs41353548
|
0.05411
|
NM_001849.4(COL6A2):c.1609-163G>A
|
rs80117819
|
0.04515
|
NM_001849.4(COL6A2):c.714+29G>A
|
rs11089047
|
0.04085
|
NM_001849.4(COL6A2):c.714+102G>A
|
rs11089048
|
0.04069
|
NM_001849.4(COL6A2):c.1000-92G>A
|
rs143691012
|
0.04049
|
NM_001849.4(COL6A2):c.2462-172C>T
|
rs2839123
|
0.03940
|
NM_001849.4(COL6A2):c.1332+120A>C
|
rs114994097
|
0.03673
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
NM_001849.4(COL6A2):c.1117-279G>A
|
rs12483283
|
0.03426
|
NM_001849.4(COL6A2):c.2462-274G>A
|
rs16978913
|
0.03233
|
NM_001849.4(COL6A2):c.-27-265G>T
|
rs112710668
|
0.02708
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
NM_001849.4(COL6A2):c.801+209G>A
|
rs145937262
|
0.02547
|
NM_001849.4(COL6A2):c.1053+193G>A
|
rs141960812
|
0.02251
|
NM_001849.4(COL6A2):c.1522-215G>A
|
rs115951307
|
0.02111
|
NM_001849.4(COL6A2):c.1333-195G>T
|
rs114984641
|
0.02052
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_001849.4(COL6A2):c.1332+272G>A
|
rs200878857
|
0.01856
|
NM_001849.4(COL6A2):c.2462-2172T>C
|
rs114837591
|
0.01835
|
NM_001849.4(COL6A2):c.-27-108G>C
|
rs77745490
|
0.01707
|
NM_001849.4(COL6A2):c.-27-89G>A
|
rs115342490
|
0.01650
|
NM_001849.4(COL6A2):c.1269+32C>T
|
rs76825716
|
0.01637
|
NM_001849.4(COL6A2):c.1117-56C>G
|
rs79332626
|
0.01634
|
NM_001849.4(COL6A2):c.1054-100A>C
|
rs114067391
|
0.01626
|
NM_001849.4(COL6A2):c.1117-203G>A
|
rs73908532
|
0.01609
|
NM_001849.4(COL6A2):c.999+71A>T
|
rs147649367
|
0.01604
|
NM_001849.4(COL6A2):c.-27-243C>A
|
rs9977654
|
0.01520
|
NM_001849.4(COL6A2):c.1735-70C>T
|
rs73908536
|
0.01312
|
NM_001849.4(COL6A2):c.802-30G>A
|
rs73908531
|
0.01112
|
NM_001849.4(COL6A2):c.736-289G>A
|
rs112052718
|
0.01104
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
NM_001849.4(COL6A2):c.2422+50C>T
|
rs80122874
|
0.00994
|
NM_001849.4(COL6A2):c.1396-103C>T
|
rs114418999
|
0.00987
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_001849.4(COL6A2):c.1053+92G>A
|
rs73382444
|
0.00952
|
NM_001849.4(COL6A2):c.1116+212C>T
|
rs533913213
|
0.00804
|
NM_001849.4(COL6A2):c.2462-117C>T
|
rs75802540
|
0.00804
|
NM_001849.4(COL6A2):c.1459-177C>T
|
rs7281832
|
0.00752
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_001849.4(COL6A2):c.735+194C>T
|
rs150456196
|
0.00647
|
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=)
|
rs138074469
|
0.00644
|
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_001849.4(COL6A2):c.1116+123G>A
|
rs115156393
|
0.00599
|
NM_001849.4(COL6A2):c.2769C>T (p.His923=)
|
rs140419176
|
0.00591
|
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)
|
rs149172490
|
0.00540
|
NM_001849.4(COL6A2):c.1270-190G>A
|
rs147613619
|
0.00520
|
NM_001849.4(COL6A2):c.2423-42G>A
|
rs115841845
|
0.00492
|
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=)
|
rs114554195
|
0.00347
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_001849.4(COL6A2):c.1332+149A>C
|
rs182808615
|
0.00314
|
NM_001849.4(COL6A2):c.1000-165C>T
|
rs185275622
|
0.00308
|
NM_001849.4(COL6A2):c.1116+39C>T
|
rs180796593
|
0.00302
|
NM_001849.4(COL6A2):c.714+23G>A
|
rs139181770
|
0.00286
|
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)
|
rs61735830
|
0.00258
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=)
|
rs140027285
|
0.00229
|
NM_001849.4(COL6A2):c.1771-22C>T
|
rs184405489
|
0.00225
|
NM_001849.4(COL6A2):c.2461+2323C>T
|
rs200968911
|
0.00213
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)
|
rs144482400
|
0.00202
|
NM_001849.4(COL6A2):c.81G>A (p.Ser27=)
|
rs111639540
|
0.00199
|
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)
|
rs147194375
|
0.00185
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_001849.4(COL6A2):c.483C>T (p.Thr161=)
|
rs138312213
|
0.00163
|
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=)
|
rs112197239
|
0.00156
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
NM_001849.4(COL6A2):c.492C>T (p.His164=)
|
rs140929054
|
0.00101
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=)
|
rs147199350
|
0.00096
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=)
|
rs373274913
|
0.00086
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)
|
rs35887009
|
0.00080
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00068
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
0.00063
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
NM_001849.4(COL6A2):c.2462-12G>A
|
rs369839157
|
0.00053
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)
|
rs370446082
|
0.00051
|
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)
|
rs148249892
|
0.00051
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)
|
rs145460820
|
0.00048
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_058174.3(COL6A2):c.2467C>A (p.Pro823Thr)
|
rs78231002
|
0.00046
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
NM_001849.4(COL6A2):c.2461+2399G>A
|
rs148762354
|
0.00042
|
NM_001849.4(COL6A2):c.*19G>A
|
rs376175555
|
0.00037
|
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)
|
rs142296092
|
0.00035
|
NM_001849.4(COL6A2):c.1970-10C>T
|
rs373369963
|
0.00034
|
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=)
|
rs143168888
|
0.00034
|
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)
|
rs190664941
|
0.00033
|
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)
|
rs139399166
|
0.00033
|
NM_001849.4(COL6A2):c.*4C>T
|
rs370155138
|
0.00032
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
NM_001849.4(COL6A2):c.1117-7C>A
|
rs202094835
|
0.00031
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)
|
rs375966817
|
0.00027
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
NM_001849.4(COL6A2):c.2423-9C>G
|
rs368725753
|
0.00026
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)
|
rs139488626
|
0.00022
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)
|
rs201736323
|
0.00021
|
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)
|
rs398123650
|
0.00021
|
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)
|
rs201188174
|
0.00021
|
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)
|
rs148552966
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp)
|
rs370624136
|
0.00020
|
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)
|
rs199896699
|
0.00019
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00019
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00018
|
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)
|
rs144334894
|
0.00018
|
NM_001849.4(COL6A2):c.2907G>A (p.Val969=)
|
rs138004735
|
0.00018
|
NM_001849.4(COL6A2):c.828G>A (p.Pro276=)
|
rs140790797
|
0.00018
|
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile)
|
rs371386355
|
0.00017
|
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=)
|
rs148404291
|
0.00017
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001849.4(COL6A2):c.1521+35G>A
|
rs185036029
|
0.00016
|
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)
|
rs571488000
|
0.00016
|
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)
|
rs145527336
|
0.00016
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
0.00016
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00016
|
NM_001849.4(COL6A2):c.942C>T (p.Ala314=)
|
rs531713008
|
0.00016
|
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)
|
rs142065958
|
0.00015
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val)
|
rs376665722
|
0.00014
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
NM_001849.4(COL6A2):c.624G>A (p.Pro208=)
|
rs146333253
|
0.00014
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met)
|
rs758758266
|
0.00013
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00013
|
NM_001849.4(COL6A2):c.542G>A (p.Arg181His)
|
rs371640468
|
0.00013
|
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn)
|
rs138276378
|
0.00012
|
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys)
|
rs771886065
|
0.00012
|
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp)
|
rs777822883
|
0.00012
|
NM_001849.4(COL6A2):c.2748C>T (p.His916=)
|
rs372206114
|
0.00012
|
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)
|
rs141579198
|
0.00012
|
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)
|
rs199955442
|
0.00012
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys)
|
rs369344885
|
0.00011
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00011
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)
|
rs145352569
|
0.00011
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
NM_001849.4(COL6A2):c.2817C>T (p.His939=)
|
rs368164391
|
0.00010
|
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser)
|
rs147054208
|
0.00010
|
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)
|
rs143891262
|
0.00010
|
NM_001849.4(COL6A2):c.116-6C>T
|
rs761805565
|
0.00009
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
NM_001849.4(COL6A2):c.22G>A (p.Val8Met)
|
rs192476178
|
0.00009
|
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)
|
rs368160013
|
0.00009
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met)
|
rs140020002
|
0.00009
|
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=)
|
rs201635208
|
0.00009
|
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys)
|
rs374504636
|
0.00009
|
NM_001849.4(COL6A2):c.855+8T>C
|
rs370008311
|
0.00009
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)
|
rs373846012
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)
|
rs753298014
|
0.00008
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)
|
rs779242861
|
0.00008
|
NM_001849.4(COL6A2):c.672C>T (p.Thr224=)
|
rs759388890
|
0.00008
|
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=)
|
rs139571947
|
0.00007
|
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=)
|
rs199499499
|
0.00007
|
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=)
|
rs754900547
|
0.00007
|
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser)
|
rs373862445
|
0.00007
|
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)
|
rs373813975
|
0.00007
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
NM_001849.4(COL6A2):c.*2G>A
|
rs201875609
|
0.00006
|
NM_001849.4(COL6A2):c.-6G>A
|
rs757279009
|
0.00006
|
NM_001849.4(COL6A2):c.1053+6G>A
|
rs373181368
|
0.00006
|
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)
|
rs188184732
|
0.00006
|
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=)
|
rs746727003
|
0.00006
|
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln)
|
rs757846451
|
0.00006
|
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys)
|
rs143338050
|
0.00006
|
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser)
|
rs140097446
|
0.00006
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)
|
rs146323303
|
0.00006
|
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)
|
rs377376395
|
0.00006
|
NM_001849.4(COL6A2):c.2422+6C>T
|
rs371950486
|
0.00006
|
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=)
|
rs144475977
|
0.00006
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
0.00006
|
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)
|
rs886043283
|
0.00006
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)
|
rs139116075
|
0.00006
|
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln)
|
rs777354703
|
0.00006
|
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=)
|
rs369756029
|
0.00006
|
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)
|
rs145959270
|
0.00006
|
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His)
|
rs544436881
|
0.00006
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
NM_001849.4(COL6A2):c.402C>T (p.Thr134=)
|
rs201221113
|
0.00006
|
NM_001849.4(COL6A2):c.698G>A (p.Arg233His)
|
rs146742517
|
0.00006
|
NM_001849.4(COL6A2):c.*1C>T
|
rs376976896
|
0.00005
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
0.00005
|
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser)
|
rs1035908319
|
0.00005
|
NM_001849.4(COL6A2):c.139G>A (p.Val47Met)
|
rs370171967
|
0.00005
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)
|
rs754196388
|
0.00005
|
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp)
|
rs747089603
|
0.00005
|
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile)
|
rs541785316
|
0.00005
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)
|
rs145450812
|
0.00005
|
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=)
|
rs188508745
|
0.00005
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=)
|
rs748286207
|
0.00005
|
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr)
|
rs771749652
|
0.00005
|
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=)
|
rs369129061
|
0.00005
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
0.00005
|
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn)
|
rs372431744
|
0.00005
|
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
|
rs369025432
|
0.00005
|
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys)
|
rs374196682
|
0.00005
|
NM_001849.4(COL6A2):c.638G>A (p.Arg213His)
|
rs368064647
|
0.00005
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
NM_001849.4(COL6A2):c.736-7G>A
|
rs375288629
|
0.00005
|
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=)
|
rs766157503
|
0.00004
|
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys)
|
rs142880107
|
0.00004
|
NM_001849.4(COL6A2):c.1194C>T (p.Asn398=)
|
rs1158137469
|
0.00004
|
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg)
|
rs768681228
|
0.00004
|
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)
|
rs765430501
|
0.00004
|
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)
|
rs202039679
|
0.00004
|
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)
|
rs727502829
|
0.00004
|
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln)
|
rs768933697
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001849.4(COL6A2):c.202T>C (p.Phe68Leu)
|
rs766930447
|
0.00004
|
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)
|
rs370558215
|
0.00004
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His)
|
rs145140058
|
0.00004
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00004
|
NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp)
|
rs140643748
|
0.00004
|
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg)
|
rs199913294
|
0.00004
|
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
|
rs139552940
|
0.00004
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met)
|
rs376841327
|
0.00004
|
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)
|
rs772005975
|
0.00004
|
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp)
|
rs759689002
|
0.00004
|
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)
|
rs200488881
|
0.00004
|
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)
|
rs1012567148
|
0.00004
|
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)
|
rs757818559
|
0.00004
|
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=)
|
rs746012569
|
0.00004
|
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His)
|
rs527236952
|
0.00004
|
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys)
|
rs373392391
|
0.00004
|
NM_001849.4(COL6A2):c.411G>A (p.Ala137=)
|
rs528885146
|
0.00004
|
NM_001849.4(COL6A2):c.472G>A (p.Val158Met)
|
rs201792591
|
0.00004
|
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile)
|
rs376564984
|
0.00004
|
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp)
|
rs201470058
|
0.00004
|
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)
|
rs760509198
|
0.00004
|
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)
|
rs754048358
|
0.00004
|
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)
|
rs530625182
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001849.4(COL6A2):c.950G>A (p.Arg317His)
|
rs373782637
|
0.00004
|
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln)
|
rs747093518
|
0.00003
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)
|
rs750842859
|
0.00003
|
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=)
|
rs145012001
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=)
|
rs150999832
|
0.00003
|
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met)
|
rs149731632
|
0.00003
|
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)
|
rs758550765
|
0.00003
|
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile)
|
rs7283272
|
0.00003
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
NM_001849.4(COL6A2):c.1969+4A>C
|
rs775997945
|
0.00003
|
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)
|
rs748592288
|
0.00003
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr)
|
rs200072495
|
0.00003
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp)
|
rs376880198
|
0.00003
|
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=)
|
rs1474756520
|
0.00003
|
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
|
rs372523558
|
0.00003
|
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr)
|
rs376173871
|
0.00003
|
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met)
|
rs367980010
|
0.00003
|
NM_001849.4(COL6A2):c.284G>A (p.Arg95His)
|
rs886042690
|
0.00003
|
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)
|
rs752243349
|
0.00003
|
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)
|
rs747184649
|
0.00003
|
NM_001849.4(COL6A2):c.471C>T (p.Ala157=)
|
rs372298335
|
0.00003
|
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg)
|
rs113509166
|
0.00003
|
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg)
|
rs886044068
|
0.00003
|
NM_001849.4(COL6A2):c.605G>A (p.Arg202Gln)
|
rs573648060
|
0.00003
|
NM_001849.4(COL6A2):c.612C>T (p.Ile204=)
|
rs773143298
|
0.00003
|
NM_001849.4(COL6A2):c.720C>T (p.His240=)
|
rs763803023
|
0.00003
|
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)
|
rs200824569
|
0.00003
|
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile)
|
rs755822013
|
0.00003
|
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=)
|
rs760596115
|
0.00002
|
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp)
|
rs531146637
|
0.00002
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
NM_001849.4(COL6A2):c.123C>T (p.Thr41=)
|
rs766840536
|
0.00002
|
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
|
rs200167715
|
0.00002
|
NM_001849.4(COL6A2):c.1270-3C>T
|
rs1488223613
|
0.00002
|
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)
|
rs773161640
|
0.00002
|
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)
|
rs886042332
|
0.00002
|
NM_001849.4(COL6A2):c.1797G>C (p.Arg599Ser)
|
rs370858447
|
0.00002
|
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro)
|
rs990733473
|
0.00002
|
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys)
|
rs748283415
|
0.00002
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)
|
rs564873527
|
0.00002
|
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=)
|
rs374795477
|
0.00002
|
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys)
|
rs200709432
|
0.00002
|
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=)
|
rs200096552
|
0.00002
|
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=)
|
rs771683876
|
0.00002
|
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu)
|
rs199736749
|
0.00002
|
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)
|
rs759293889
|
0.00002
|
NM_001849.4(COL6A2):c.2349G>A (p.Val783=)
|
rs886044418
|
0.00002
|
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=)
|
rs745800327
|
0.00002
|
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met)
|
rs145381639
|
0.00002
|
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)
|
rs886057168
|
0.00002
|
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys)
|
rs372022187
|
0.00002
|
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp)
|
rs373184224
|
0.00002
|
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met)
|
rs752700701
|
0.00002
|
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)
|
rs532656197
|
0.00002
|
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His)
|
rs376368468
|
0.00002
|
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp)
|
rs762263982
|
0.00002
|
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile)
|
rs751410120
|
0.00002
|
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)
|
rs760263812
|
0.00002
|
NM_001849.4(COL6A2):c.928-10T>A
|
rs747608945
|
0.00002
|
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)
|
rs547648292
|
0.00002
|
NM_001849.4(COL6A2):c.954+5G>C
|
rs750755566
|
0.00002
|
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)
|
rs775751831
|
0.00001
|
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser)
|
rs2078489585
|
0.00001
|
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys)
|
rs1473389233
|
0.00001
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
NM_001849.4(COL6A2):c.1117-3C>T
|
rs772428654
|
0.00001
|
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=)
|
rs148423929
|
0.00001
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001849.4(COL6A2):c.1198G>A (p.Gly400Arg)
|
rs1064796261
|
0.00001
|
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser)
|
rs1328612494
|
0.00001
|
NM_001849.4(COL6A2):c.1332+10C>T
|
rs886042745
|
0.00001
|
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg)
|
rs886044030
|
0.00001
|
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=)
|
rs886044428
|
0.00001
|
NM_001849.4(COL6A2):c.1395+6G>A
|
rs886042454
|
0.00001
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser)
|
rs369945453
|
0.00001
|
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)
|
rs200482836
|
0.00001
|
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=)
|
rs774677437
|
0.00001
|
NM_001849.4(COL6A2):c.1458+3C>T
|
rs794727186
|
0.00001
|
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)
|
rs770222615
|
0.00001
|
NM_001849.4(COL6A2):c.1521+5G>A
|
rs760353646
|
0.00001
|
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)
|
rs199842179
|
0.00001
|
NM_001849.4(COL6A2):c.1531G>A (p.Gly511Ser)
|
rs727502833
|
0.00001
|
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser)
|
rs780177226
|
0.00001
|
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)
|
rs367693258
|
0.00001
|
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=)
|
rs552356380
|
0.00001
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
NM_001849.4(COL6A2):c.1609-5C>T
|
rs1201782306
|
0.00001
|
NM_001849.4(COL6A2):c.1609-7G>A
|
rs555312732
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu)
|
rs370775804
|
0.00001
|
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser)
|
rs750533442
|
0.00001
|
NM_001849.4(COL6A2):c.1771-8C>T
|
rs886042687
|
0.00001
|
NM_001849.4(COL6A2):c.1816G>C (p.Asp606His)
|
rs747602311
|
0.00001
|
NM_001849.4(COL6A2):c.1831T>C (p.Cys611Arg)
|
rs794727399
|
0.00001
|
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
|
rs746193653
|
0.00001
|
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=)
|
rs367857478
|
0.00001
|
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys)
|
rs387906607
|
0.00001
|
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr)
|
rs766374821
|
0.00001
|
NM_001849.4(COL6A2):c.1895C>T (p.Thr632Ile)
|
rs1042338524
|
0.00001
|
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
|
rs554113319
|
0.00001
|
NM_001849.4(COL6A2):c.1947T>C (p.Ala649=)
|
rs751668448
|
0.00001
|
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)
|
rs758788067
|
0.00001
|
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)
|
rs138948335
|
0.00001
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu)
|
rs746159648
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His)
|
rs749451502
|
0.00001
|
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)
|
rs398123649
|
0.00001
|
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu)
|
rs750009012
|
0.00001
|
NM_001849.4(COL6A2):c.2268C>T (p.Ala756=)
|
rs1322159209
|
0.00001
|
NM_001849.4(COL6A2):c.2377G>A (p.Val793Ile)
|
rs774600998
|
0.00001
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg)
|
rs727502834
|
0.00001
|
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)
|
rs776788517
|
0.00001
|
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala)
|
rs886044025
|
0.00001
|
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu)
|
rs775748752
|
0.00001
|
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)
|
rs1243558040
|
0.00001
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=)
|
rs377389081
|
0.00001
|
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs)
|
rs1413628703
|
0.00001
|
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His)
|
rs201035005
|
0.00001
|
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp)
|
rs752291709
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.2687A>C (p.His896Pro)
|
rs886044383
|
0.00001
|
NM_001849.4(COL6A2):c.2691C>T (p.Asn897=)
|
rs1178660708
|
0.00001
|
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met)
|
rs771341779
|
0.00001
|
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=)
|
rs747734639
|
0.00001
|
NM_001849.4(COL6A2):c.2766G>A (p.Val922=)
|
rs557446829
|
0.00001
|
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=)
|
rs776437060
|
0.00001
|
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu)
|
rs780505425
|
0.00001
|
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp)
|
rs755352246
|
0.00001
|
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)
|
rs750097119
|
0.00001
|
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr)
|
rs777494468
|
0.00001
|
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser)
|
rs370593484
|
0.00001
|
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile)
|
rs753423696
|
0.00001
|
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu)
|
rs1555877365
|
0.00001
|
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn)
|
rs750682710
|
0.00001
|
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)
|
rs1051148162
|
0.00001
|
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp)
|
rs776732203
|
0.00001
|
NM_001849.4(COL6A2):c.386G>A (p.Arg129His)
|
rs1267725555
|
0.00001
|
NM_001849.4(COL6A2):c.408C>T (p.Cys136=)
|
rs745970130
|
0.00001
|
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val)
|
rs886044462
|
0.00001
|
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)
|
rs749711324
|
0.00001
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr)
|
rs1454146707
|
0.00001
|
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile)
|
rs886044102
|
0.00001
|
NM_001849.4(COL6A2):c.498C>T (p.Thr166=)
|
rs762436629
|
0.00001
|
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)
|
rs559666084
|
0.00001
|
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn)
|
rs776631856
|
0.00001
|
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu)
|
rs1355259368
|
0.00001
|
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)
|
rs779287707
|
0.00001
|
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu)
|
rs777108595
|
0.00001
|
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)
|
rs199806576
|
0.00001
|
NM_001849.4(COL6A2):c.773C>G (p.Ser258Cys)
|
rs770303583
|
0.00001
|
NM_001849.4(COL6A2):c.901-3C>T
|
rs112317259
|
0.00001
|
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)
|
rs759838639
|
0.00001
|
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser)
|
rs762882543
|
0.00001
|
NM_001849.4(COL6A2):c.955-10C>T
|
rs751105293
|
0.00001
|
NM_001849.4(COL6A2):c.960C>T (p.Ala320=)
|
rs886044473
|
0.00001
|
NM_001849.4(COL6A2):c.987C>T (p.Thr329=)
|
rs748215430
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:47533922-47535967)x1
|
|
|
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
|
|
|
GRCh37/hg19 21q22.3(chr21:47551909-47552350)x1
|
|
|
GRCh37/hg19 21q22.3(chr21:47551909-47552386)x1
|
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.-28+99T>C
|
rs2277817
|
|
NM_001849.4(COL6A2):c.1000-1G>T
|
rs1555873358
|
|
NM_001849.4(COL6A2):c.1000-2A>C
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1000-2_1000-1inv
|
|
|
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
|
|
|
NM_001849.4(COL6A2):c.1015A>G (p.Ile339Val)
|
rs2123631317
|
|
NM_001849.4(COL6A2):c.1017C>G (p.Ile339Met)
|
|
|
NM_001849.4(COL6A2):c.1024C>T (p.Pro342Ser)
|
|
|
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=)
|
rs1568930411
|
|
NM_001849.4(COL6A2):c.1031G>A (p.Cys344Tyr)
|
rs886043223
|
|
NM_001849.4(COL6A2):c.1031G>C (p.Cys344Ser)
|
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
NM_001849.4(COL6A2):c.1042C>T (p.Pro348Ser)
|
|
|
NM_001849.4(COL6A2):c.1043C>T (p.Pro348Leu)
|
rs886043426
|
|
NM_001849.4(COL6A2):c.1053+130_1053+143del
|
rs58873991
|
|
NM_001849.4(COL6A2):c.1053+1G>A
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+1G>C
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+2del
|
rs886044140
|
|
NM_001849.4(COL6A2):c.1053+58C>T
|
rs57870436
|
|
NM_001849.4(COL6A2):c.1054-119dup
|
rs5844252
|
|
NM_001849.4(COL6A2):c.1054-13_1054-10del
|
rs886043730
|
|
NM_001849.4(COL6A2):c.1054-2A>G
|
rs886044023
|
|
NM_001849.4(COL6A2):c.1055G>A (p.Gly352Asp)
|
rs2123632697
|
|
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His)
|
rs188184732
|
|
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)
|
rs794727061
|
|
NM_001849.4(COL6A2):c.1071G>C (p.Pro357=)
|
rs746727003
|
|
NM_001849.4(COL6A2):c.1079C>G (p.Ala360Gly)
|
rs2078500027
|
|
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)
|
rs374673302
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1117-204C>T
|
rs73382451
|
|
NM_001849.4(COL6A2):c.1117-35_1118dup
|
rs1555873698
|
|
NM_001849.4(COL6A2):c.1117-9C>T
|
rs1057523383
|
|
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg)
|
rs753834270
|
|
NM_001849.4(COL6A2):c.1135G>A (p.Gly379Arg)
|
rs2078513383
|
|
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
|
|
|
NM_001849.4(COL6A2):c.1142G>C (p.Arg381Thr)
|
rs1057519185
|
|
NM_001849.4(COL6A2):c.1148C>T (p.Pro383Leu)
|
|
|
NM_001849.4(COL6A2):c.115+2_115+8del
|
rs1407260029
|
|
NM_001849.4(COL6A2):c.115+6A>G
|
rs886042882
|
|
NM_001849.4(COL6A2):c.1151C>T (p.Pro384Leu)
|
rs754947548
|
|
NM_001849.4(COL6A2):c.116-7C>T
|
rs774578429
|
|
NM_001849.4(COL6A2):c.116-8C>T
|
rs1359608410
|
|
NM_001849.4(COL6A2):c.1165G>T (p.Ala389Ser)
|
|
|
NM_001849.4(COL6A2):c.1180-1G>C
|
rs751409618
|
|
NM_001849.4(COL6A2):c.119A>C (p.Lys40Thr)
|
|
|
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=)
|
rs558981930
|
|
NM_001849.4(COL6A2):c.1249C>T (p.Arg417Cys)
|
rs1248584370
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1269+7C>T
|
rs751071208
|
|
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=)
|
rs144136807
|
|
NM_001849.4(COL6A2):c.1277_1291del (p.Arg426_Gly430del)
|
rs1555873962
|
|
NM_001849.4(COL6A2):c.1315G>A (p.Gly439Ser)
|
|
|
NM_001849.4(COL6A2):c.1332+271del
|
rs3831407
|
|
NM_001849.4(COL6A2):c.1332+277_1332+278del
|
rs3831408
|
|
NM_001849.4(COL6A2):c.1332+285_1332+286insTACCGCTCACCCCCCGGCCCCCACTGAGG
|
rs1342528281
|
|
NM_001849.4(COL6A2):c.1332+299dup
|
rs56335207
|
|
NM_001849.4(COL6A2):c.1332+303_1332+304dup
|
rs56053057
|
|
NM_001849.4(COL6A2):c.1333-80C>T
|
rs79433633
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1396-11_1396-2del
|
rs886044484
|
|
NM_001849.4(COL6A2):c.1396-133G>C
|
rs55964853
|
|
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu)
|
rs746541506
|
|
NM_001849.4(COL6A2):c.143A>T (p.Tyr48Phe)
|
rs780803351
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
NM_001849.4(COL6A2):c.1458+3_1458+6del
|
rs765084926
|
|
NM_001849.4(COL6A2):c.1459-63G>A
|
rs914794771
|
|
NM_001849.4(COL6A2):c.1459-76C>T
|
rs115344658
|
|
NM_001849.4(COL6A2):c.1459-82_1459-63del
|
rs1331564391
|
|
NM_001849.4(COL6A2):c.1459-8G>A
|
rs546206539
|
|
NM_001849.4(COL6A2):c.1472A>G (p.Asp491Gly)
|
rs754954890
|
|
NM_001849.4(COL6A2):c.1479dup (p.Asp494Ter)
|
rs2123646701
|
|
NM_001849.4(COL6A2):c.14C>T (p.Thr5Ile)
|
rs886043160
|
|
NM_001849.4(COL6A2):c.1521+10C>T
|
rs753385303
|
|
NM_001849.4(COL6A2):c.1521+1G>A
|
rs2123646873
|
|
NM_001849.4(COL6A2):c.1521+4C>T
|
rs886043036
|
|
NM_001849.4(COL6A2):c.1522-1G>A
|
rs398123646
|
|
NM_001849.4(COL6A2):c.1533C>T (p.Gly511=)
|
rs750694212
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser)
|
rs2078577021
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1572+2dup
|
rs1568935182
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
NM_001849.4(COL6A2):c.1573G>C (p.Gly525Arg)
|
rs1555874709
|
|
NM_001849.4(COL6A2):c.1612G>C (p.Gly538Arg)
|
rs886044032
|
|
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
|
|
|
NM_001849.4(COL6A2):c.1645G>A (p.Gly549Arg)
|
rs773629714
|
|
NM_001849.4(COL6A2):c.1649G>A (p.Arg550Lys)
|
rs373609986
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
|
|
|
NM_001849.4(COL6A2):c.1671+254_1671+332del
|
rs1568936278
|
|
NM_001849.4(COL6A2):c.1672-103del
|
rs36033678
|
|
NM_001849.4(COL6A2):c.1672-104_1672-103del
|
rs36033678
|
|
NM_001849.4(COL6A2):c.1672-111C>T
|
rs369935000
|
|
NM_001849.4(COL6A2):c.1672-24C>G
|
rs3746995
|
|
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)
|
rs1555871311
|
|
NM_001849.4(COL6A2):c.1687C>T (p.Pro563Ser)
|
rs753877868
|
|
NM_001849.4(COL6A2):c.1688dup (p.Gly564fs)
|
rs1568938325
|
|
NM_001849.4(COL6A2):c.1706G>T (p.Arg569Leu)
|
|
|
NM_001849.4(COL6A2):c.1734+10_1734+12del
|
rs1197848901
|
|
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser)
|
rs779979272
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
NM_001849.4(COL6A2):c.175A>C (p.Met59Leu)
|
rs914450923
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)
|
rs886043225
|
|
NM_001849.4(COL6A2):c.1770+1G>A
|
rs752803039
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1771-9G>T
|
rs886042686
|
|
NM_001849.4(COL6A2):c.1772A>T (p.Glu591Val)
|
rs1568939145
|
|
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
|
|
|
NM_001849.4(COL6A2):c.1795A>G (p.Arg599Gly)
|
|
|
NM_001849.4(COL6A2):c.1815C>G (p.Cys605Trp)
|
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
NM_001849.4(COL6A2):c.1817-2A>G
|
rs111697581
|
|
NM_001849.4(COL6A2):c.1817-3C>G
|
rs112645828
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-9C>T
|
rs766915366
|
|
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
|
|
|
NM_001849.4(COL6A2):c.1858_1860del (p.Ile620del)
|
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1868C>G (p.Ser623Cys)
|
rs2123661865
|
|
NM_001849.4(COL6A2):c.186dup (p.Thr63fs)
|
rs886041439
|
|
NM_001849.4(COL6A2):c.1874G>A (p.Ser625Asn)
|
|
|
NM_001849.4(COL6A2):c.1875C>T (p.Ser625=)
|
rs1221080628
|
|
NM_001849.4(COL6A2):c.1931G>A (p.Arg644Lys)
|
|
|
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)
|
rs776676512
|
|
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)
|
rs547589437
|
|
NM_001849.4(COL6A2):c.1961C>A (p.Ser654Tyr)
|
|
|
NM_001849.4(COL6A2):c.1975C>G (p.Arg659Gly)
|
|
|
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys)
|
rs727502830
|
|
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met)
|
rs2123663062
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001849.4(COL6A2):c.1998C>G (p.Ser666Arg)
|
rs398123647
|
|
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg)
|
rs1245904841
|
|
NM_001849.4(COL6A2):c.2001C>T (p.His667=)
|
rs886042174
|
|
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn)
|
rs886042884
|
|
NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs)
|
rs1064795685
|
|
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His)
|
rs376527297
|
|
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe)
|
rs1258904789
|
|
NM_001849.4(COL6A2):c.2082_2083dup (p.Glu695fs)
|
rs2123663539
|
|
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln)
|
rs377376395
|
|
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)
|
rs1085307668
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)
|
rs794727418
|
|
NM_001849.4(COL6A2):c.2113T>C (p.Ser705Pro)
|
rs398123648
|
|
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro)
|
rs794727417
|
|
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
|
|
|
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp)
|
rs1555875708
|
|
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val)
|
rs1555875708
|
|
NM_001849.4(COL6A2):c.2133C>G (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
|
|
|
NM_001849.4(COL6A2):c.2145C>T (p.Ile715=)
|
rs1384437929
|
|
NM_001849.4(COL6A2):c.2182_2184delinsATA (p.Val728Ile)
|
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)
|
rs886038496
|
|
NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)
|
|
|
NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)
|
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
NM_001849.4(COL6A2):c.2254G>T (p.Val752Phe)
|
|
|
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile)
|
rs886042625
|
|
NM_001849.4(COL6A2):c.2258_2259del (p.Thr753fs)
|
rs2078661471
|
|
NM_001849.4(COL6A2):c.2269A>G (p.Ile757Val)
|
|
|
NM_001849.4(COL6A2):c.2284_2285del (p.Met762fs)
|
rs778129335
|
|
NM_001849.4(COL6A2):c.2302G>A (p.Glu768Lys)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
|
|
|
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro)
|
rs75120695
|
|
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser)
|
rs746466184
|
|
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn)
|
rs1273249543
|
|
NM_001849.4(COL6A2):c.2380G>A (p.Ala794Thr)
|
|
|
NM_001849.4(COL6A2):c.2392_2394del (p.Ile798del)
|
rs886043731
|
|
NM_001849.4(COL6A2):c.2394C>G (p.Ile798Met)
|
rs756575729
|
|
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr)
|
rs749043206
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2422+7G>T
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2423-11CT[2]
|
rs756221937
|
|
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC
|
rs138363207
|
|
NM_001849.4(COL6A2):c.2423-22_2423-18dup
|
rs138363207
|
|
NM_001849.4(COL6A2):c.2423-2_2426del
|
|
|
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001849.4(COL6A2):c.244C>T (p.Gln82Ter)
|
rs886041447
|
|
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)
|
rs121912942
|
|
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
|
|
|
NM_001849.4(COL6A2):c.2461+2035G>A
|
rs6518273
|
|
NM_001849.4(COL6A2):c.2461+2355G>A
|
|
|
NM_001849.4(COL6A2):c.2461+2370G>A
|
rs9977766
|
|
NM_001849.4(COL6A2):c.2461+299G>T
|
rs77102533
|
|
NM_001849.4(COL6A2):c.2462-204T>C
|
rs2839122
|
|
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala)
|
rs1259128571
|
|
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro)
|
rs1568947214
|
|
NM_001849.4(COL6A2):c.2515_2516del (p.Asp839fs)
|
rs1064793394
|
|
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly)
|
rs759689002
|
|
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala)
|
rs886044689
|
|
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla)
|
rs753952104
|
|
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)
|
rs1555877258
|
|
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln)
|
rs61735831
|
|
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys)
|
rs865872231
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2626C>T (p.Arg876Cys)
|
rs387906608
|
|
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)
|
rs369396198
|
|
NM_001849.4(COL6A2):c.2634G>C (p.Ala878=)
|
|
|
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
|
|
|
NM_001849.4(COL6A2):c.2646del (p.Phe882fs)
|
rs1555877282
|
|
NM_001849.4(COL6A2):c.2658C>A (p.Gly886=)
|
rs143168888
|
|
NM_001849.4(COL6A2):c.265C>T (p.Gln89Ter)
|
rs1555871390
|
|
NM_001849.4(COL6A2):c.267G>C (p.Gln89His)
|
rs1452398707
|
|
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn)
|
rs112139050
|
|
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
|
|
|
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2702_2722del (p.Ile901_Thr907del)
|
rs886044097
|
|
NM_001849.4(COL6A2):c.2702_2724delinsCG (p.Ile901_Thr907del)
|
|
|
NM_001849.4(COL6A2):c.2712G>T (p.Ala904=)
|
rs139116075
|
|
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
|
|
|
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del)
|
rs777696289
|
|
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)
|
rs746930351
|
|
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)
|
rs372206114
|
|
NM_001849.4(COL6A2):c.2751G>A (p.Val917=)
|
rs111341650
|
|
NM_001849.4(COL6A2):c.2758G>A (p.Gly920Ser)
|
|
|
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)
|
rs398123650
|
|
NM_001849.4(COL6A2):c.2764G>A (p.Val922Met)
|
|
|
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
|
|
|
NM_001849.4(COL6A2):c.2830_2832del (p.Phe944del)
|
rs769426922
|
|
NM_001849.4(COL6A2):c.2833G>T (p.Val945Leu)
|
rs762041959
|
|
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg)
|
rs147670858
|
|
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
|
|
|
NM_001849.4(COL6A2):c.2858G>C (p.Gly953Ala)
|
rs895235616
|
|
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
|
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu)
|
rs763443381
|
|
NM_001849.4(COL6A2):c.2924C>T (p.Ala975Val)
|
|
|
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=)
|
rs2078774154
|
|
NM_001849.4(COL6A2):c.2940G>A (p.Val980=)
|
rs886044694
|
|
NM_001849.4(COL6A2):c.2940G>C (p.Val980=)
|
|
|
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup)
|
rs762259160
|
|
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val)
|
rs781544781
|
|
NM_001849.4(COL6A2):c.2968C>G (p.Leu990Val)
|
rs746012569
|
|
NM_001849.4(COL6A2):c.2981CCG[1] (p.Ala995del)
|
rs768109283
|
|
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=)
|
rs751494076
|
|
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del)
|
rs750794022
|
|
NM_001849.4(COL6A2):c.3005_3006del (p.Asp1001_Tyr1002insTer)
|
|
|
NM_001849.4(COL6A2):c.3016G>A (p.Ala1006Thr)
|
|
|
NM_001849.4(COL6A2):c.3019C>G (p.Gln1007Glu)
|
rs1555877377
|
|
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)
|
rs762516507
|
|
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)
|
rs886044576
|
|
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
|
|
|
NM_001849.4(COL6A2):c.339C>T (p.Ser113=)
|
|
|
NM_001849.4(COL6A2):c.345G>A (p.Arg115=)
|
rs138007666
|
|
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser)
|
rs561771249
|
|
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr)
|
rs982087527
|
|
NM_001849.4(COL6A2):c.431A>G (p.Gln144Arg)
|
rs1555871542
|
|
NM_001849.4(COL6A2):c.531dup (p.Glu178fs)
|
rs2078415221
|
|
NM_001849.4(COL6A2):c.565G>A (p.Ala189Thr)
|
|
|
NM_001849.4(COL6A2):c.582G>C (p.Gln194His)
|
rs1601218622
|
|
NM_001849.4(COL6A2):c.599G>T (p.Gly200Val)
|
|
|
NM_001849.4(COL6A2):c.619A>G (p.Thr207Ala)
|
rs1568926292
|
|
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)
|
rs760395633
|
|
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)
|
rs760395633
|
|
NM_001849.4(COL6A2):c.627C>T (p.His209=)
|
rs545218705
|
|
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)
|
rs563449281
|
|
NM_001849.4(COL6A2):c.643G>T (p.Asp215Tyr)
|
|
|
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
|
|
|
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro)
|
rs1208218678
|
|
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
|
|
|
NM_001849.4(COL6A2):c.706A>G (p.Lys236Glu)
|
|
|
NM_001849.4(COL6A2):c.714G>A (p.Met238Ile)
|
|
|
NM_001849.4(COL6A2):c.736-160del
|
rs149477463
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001849.4(COL6A2):c.736-7_739del
|
rs1555872143
|
|
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.796_801+6del
|
rs1555872200
|
|
NM_001849.4(COL6A2):c.801+1G>A
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+1G>T
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+2dup
|
rs2123620848
|
|
NM_001849.4(COL6A2):c.801+57T>C
|
rs114008288
|
|
NM_001849.4(COL6A2):c.802-2A>G
|
rs886044399
|
|
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)
|
rs121912940
|
|
NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp)
|
rs794727788
|
|
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
|
rs2078462673
|
|
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
|
|
|
NM_001849.4(COL6A2):c.830del (p.Gly277fs)
|
rs1555872819
|
|
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.839G>T (p.Gly280Val)
|
|
|
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)
|
rs267606748
|
|
NM_001849.4(COL6A2):c.847G>C (p.Gly283Arg)
|
rs267606748
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.855+1G>A
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+2T>G
|
rs113525292
|
|
NM_001849.4(COL6A2):c.856-2A>C
|
rs886044466
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.865G>T (p.Gly289Cys)
|
rs886043270
|
|
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.869_899del (p.Ile290fs)
|
rs2123626073
|
|
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)
|
rs794727855
|
|
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)
|
rs1555872873
|
|
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala)
|
rs1487638242
|
|
NM_001849.4(COL6A2):c.893G>T (p.Gly298Val)
|
rs1487638242
|
|
NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)
|
|
|
NM_001849.4(COL6A2):c.900+1G>A
|
rs886044261
|
|
NM_001849.4(COL6A2):c.900+1G>C
|
rs886044261
|
|
NM_001849.4(COL6A2):c.901-3C>G
|
rs112317259
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val)
|
rs886042541
|
|
NM_001849.4(COL6A2):c.948T>C (p.Gly316=)
|
rs764665426
|
|
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)
|
rs547648292
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-3C>T
|
|
|
NM_001849.4(COL6A2):c.955-8C>T
|
rs398123651
|
|
NM_001849.4(COL6A2):c.957G>C (p.Gly319=)
|
|
|
NM_001849.4(COL6A2):c.971C>G (p.Ala324Gly)
|
rs886043229
|
|
NM_001849.4(COL6A2):c.989A>T (p.Asp330Val)
|
|
|
NM_001849.4(COL6A2):c.999+113AC[14]
|
rs59060956
|
|
NM_001849.4(COL6A2):c.999+113AC[16]
|
rs59060956
|
|
NM_001849.4(COL6A2):c.999+113AC[17]
|
rs59060956
|
|
NM_001849.4(COL6A2):c.999+113AC[18]
|
rs59060956
|
|
NM_001849.4(COL6A2):c.999+113AC[19]
|
rs59060956
|
|
NM_001849.4(COL6A2):c.999+113AC[20]
|
rs59060956
|
|
NM_001849.4(COL6A2):c.999G>A (p.Lys333=)
|
rs886042908
|
|
NM_058174.3(COL6A2):c.2469G>A (p.Pro823=)
|
|
|
NM_058174.3(COL6A2):c.2520G>T (p.Pro840=)
|
|
|
NM_058174.3(COL6A2):c.2550G>C (p.Leu850=)
|
|
|
NM_058174.3(COL6A2):c.2616C>T (p.Ala872=)
|
|
|
NM_058174.3(COL6A2):c.2631C>T (p.Thr877=)
|
|
|
NM_058174.3(COL6A2):c.2659del (p.Gly886_Val887insTer)
|
|
|
Single allele
|
|
|