NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
NM_004369.4(COL6A3):c.7029+256G>A
|
rs72986103
|
0.02433
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
NM_004369.4(COL6A3):c.7765+206G>A
|
rs55635726
|
0.01765
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_004369.4(COL6A3):c.6690+39T>C
|
rs58342729
|
0.01495
|
NM_004369.4(COL6A3):c.6538-84T>G
|
rs73998888
|
0.01470
|
NM_004369.4(COL6A3):c.3680-230T>C
|
rs76568198
|
0.01443
|
NM_004369.4(COL6A3):c.91+194C>A
|
rs73093801
|
0.01373
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_004369.4(COL6A3):c.8568-297del
|
rs375258747
|
0.01123
|
NM_004369.4(COL6A3):c.8568-295_8568-294insA
|
rs201078854
|
0.01121
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_004369.4(COL6A3):c.6816+137G>A
|
rs150628086
|
0.01083
|
NM_004369.4(COL6A3):c.5918-293G>A
|
rs10206312
|
0.01072
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_004369.4(COL6A3):c.92-71G>A
|
rs111726447
|
0.01060
|
NM_004369.4(COL6A3):c.1897+163C>G
|
rs78219354
|
0.01059
|
NM_004369.4(COL6A3):c.709+96T>C
|
rs3748778
|
0.01056
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_004369.4(COL6A3):c.7668+297G>A
|
rs138722779
|
0.00992
|
NM_004369.4(COL6A3):c.9230-173T>C
|
rs111918424
|
0.00905
|
NM_004369.4(COL6A3):c.6408+44A>G
|
rs78398512
|
0.00900
|
NM_004369.4(COL6A3):c.3070+272T>C
|
rs74935066
|
0.00895
|
NM_004369.4(COL6A3):c.6880-212G>A
|
rs73999308
|
0.00885
|
NM_004369.4(COL6A3):c.6063+160C>T
|
rs73998891
|
0.00860
|
NM_004369.4(COL6A3):c.6471+263T>C
|
rs75838500
|
0.00851
|
NM_004369.4(COL6A3):c.4286-261C>A
|
rs189764195
|
0.00834
|
NM_004369.4(COL6A3):c.4286-262A>G
|
rs180926553
|
0.00833
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_004369.4(COL6A3):c.710-285C>G
|
rs11891780
|
0.00766
|
NM_004369.4(COL6A3):c.1312+218A>G
|
rs77372376
|
0.00758
|
NM_004369.4(COL6A3):c.5917+109G>A
|
rs75087401
|
0.00723
|
NM_004369.4(COL6A3):c.1313-71T>C
|
rs13415963
|
0.00722
|
NM_004369.4(COL6A3):c.1898-109A>C
|
rs10209074
|
0.00720
|
NM_004369.4(COL6A3):c.5839-103G>A
|
rs112012504
|
0.00718
|
NM_004369.4(COL6A3):c.1312+294G>A
|
rs78734078
|
0.00713
|
NM_004369.4(COL6A3):c.5500+71C>T
|
rs74648902
|
0.00702
|
NM_004369.4(COL6A3):c.6472-257A>G
|
rs79439170
|
0.00683
|
NM_004369.4(COL6A3):c.6064-211A>G
|
rs73093733
|
0.00680
|
NM_004369.4(COL6A3):c.5500+231T>G
|
rs75707353
|
0.00661
|
NM_004369.4(COL6A3):c.1898-56G>A
|
rs56882153
|
0.00633
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_004369.4(COL6A3):c.6592-319G>T
|
rs79986217
|
0.00611
|
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)
|
rs73998894
|
0.00603
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_004369.4(COL6A3):c.5917+92C>T
|
rs117702320
|
0.00574
|
NM_004369.4(COL6A3):c.5500+22T>G
|
rs73093738
|
0.00551
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
NM_004369.4(COL6A3):c.709+200G>A
|
rs72986178
|
0.00511
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
NM_004369.4(COL6A3):c.8567+337C>A
|
rs145216890
|
0.00501
|
NM_004369.4(COL6A3):c.-30-83C>T
|
rs116723844
|
0.00487
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
NM_004369.4(COL6A3):c.5917+27A>G
|
rs78387780
|
0.00458
|
NM_004369.4(COL6A3):c.6592-27del
|
rs60436236
|
0.00457
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_004369.4(COL6A3):c.7766-124C>T
|
rs113676306
|
0.00421
|
NM_004369.4(COL6A3):c.6880-59C>T
|
rs113165342
|
0.00409
|
NM_004369.4(COL6A3):c.6880-58G>T
|
rs112554120
|
0.00406
|
NM_004369.4(COL6A3):c.8567+281C>G
|
rs112384249
|
0.00406
|
NM_004369.4(COL6A3):c.8965+62G>A
|
rs111756435
|
0.00406
|
NM_004369.4(COL6A3):c.1897+159G>T
|
rs143755768
|
0.00399
|
NM_004369.4(COL6A3):c.1313-42G>A
|
rs112545923
|
0.00398
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=)
|
rs113074898
|
0.00392
|
NM_004369.4(COL6A3):c.8465-43A>G
|
rs111500723
|
0.00389
|
NM_004369.4(COL6A3):c.6537+93C>T
|
rs138383759
|
0.00384
|
NM_004369.4(COL6A3):c.9229+110A>G
|
rs142705368
|
0.00376
|
NM_004369.4(COL6A3):c.4901-321T>C
|
rs149445612
|
0.00374
|
NM_004369.4(COL6A3):c.6753+102C>G
|
rs140765285
|
0.00363
|
NM_004369.4(COL6A3):c.8966-199A>G
|
rs78399149
|
0.00361
|
NM_004369.4(COL6A3):c.7092+279T>C
|
rs140259811
|
0.00360
|
NM_004369.4(COL6A3):c.6282+143G>A
|
rs150577376
|
0.00359
|
NM_004369.4(COL6A3):c.6690+177T>G
|
rs114874223
|
0.00354
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
NM_004369.4(COL6A3):c.9230-202G>A
|
rs150422369
|
0.00319
|
NM_004369.4(COL6A3):c.7162+48G>A
|
rs112563876
|
0.00316
|
NM_004369.4(COL6A3):c.6754-37G>C
|
rs113304682
|
0.00312
|
NM_004369.4(COL6A3):c.3071-206A>T
|
rs151278133
|
0.00305
|
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)
|
rs113542401
|
0.00272
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)
|
rs114061998
|
0.00214
|
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)
|
rs113781746
|
0.00178
|
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=)
|
rs34978064
|
0.00147
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_004369.4(COL6A3):c.6064-45G>T
|
rs118000431
|
0.00055
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_004369.4(COL6A3):c.4901-24T>A
|
rs78239843
|
0.00043
|
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=)
|
rs148713779
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=)
|
rs150219857
|
0.00039
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn)
|
rs114804083
|
0.00037
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
NM_004369.4(COL6A3):c.8007C>T (p.His2669=)
|
rs528369978
|
0.00035
|
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=)
|
rs151234107
|
0.00033
|
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)
|
rs138049094
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
|
rs36020669
|
0.00016
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
NM_004369.4(COL6A3):c.6064-6C>T
|
rs202091342
|
0.00013
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00012
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=)
|
rs145048734
|
0.00009
|
NM_004369.4(COL6A3):c.6211-13T>C
|
rs751001881
|
0.00009
|
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=)
|
rs369620378
|
0.00008
|
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=)
|
rs368711215
|
0.00008
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.6948T>G (p.Pro2316=)
|
rs1463694261
|
0.00006
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=)
|
rs751580746
|
0.00006
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)
|
rs144514259
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=)
|
rs368285658
|
0.00004
|
NM_004369.4(COL6A3):c.354T>G (p.Thr118=)
|
rs751592191
|
0.00004
|
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=)
|
rs747802067
|
0.00004
|
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)
|
rs199759398
|
0.00004
|
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=)
|
rs375668409
|
0.00004
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
NM_004369.4(COL6A3):c.1776G>A (p.Leu592=)
|
rs768605165
|
0.00003
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=)
|
rs528204718
|
0.00003
|
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=)
|
rs751433682
|
0.00003
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=)
|
rs199869924
|
0.00003
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=)
|
rs776665419
|
0.00002
|
NM_004369.4(COL6A3):c.2907G>A (p.Val969=)
|
rs772894785
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.5670G>A (p.Val1890=)
|
rs781427401
|
0.00002
|
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=)
|
rs560225578
|
0.00002
|
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=)
|
rs113423040
|
0.00002
|
NM_004369.4(COL6A3):c.8464+12G>A
|
rs199707923
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=)
|
rs138036318
|
0.00001
|
NM_004369.4(COL6A3):c.1947C>T (p.Asn649=)
|
rs778681864
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.5343C>T (p.Ile1781=)
|
rs767676914
|
0.00001
|
NM_004369.4(COL6A3):c.6009C>T (p.Asp2003=)
|
rs1396635150
|
0.00001
|
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=)
|
rs777351827
|
0.00001
|
NM_004369.4(COL6A3):c.7030-14T>C
|
rs759502121
|
0.00001
|
NM_004369.4(COL6A3):c.8568-9T>C
|
rs1369507012
|
0.00001
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=)
|
rs768887961
|
0.00001
|
NM_004369.4(COL6A3):c.-30-210TATC[14]
|
rs60589035
|
|
NM_004369.4(COL6A3):c.1431C>T (p.Ile477=)
|
|
|
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.216A>G (p.Gly72=)
|
rs1574756685
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2937C>T (p.Asp979=)
|
rs763515820
|
|
NM_004369.4(COL6A3):c.3070+9G>C
|
rs1016749268
|
|
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=)
|
rs200562443
|
|
NM_004369.4(COL6A3):c.3680-225A>T
|
rs80185031
|
|
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=)
|
rs727503885
|
|
NM_004369.4(COL6A3):c.4285+41C>T
|
rs2077690067
|
|
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=)
|
rs1574695218
|
|
NM_004369.4(COL6A3):c.4901-113_4901-112del
|
rs112061651
|
|
NM_004369.4(COL6A3):c.4901-255G>A
|
rs115360817
|
|
NM_004369.4(COL6A3):c.5250C>T (p.Ile1750=)
|
rs1315026472
|
|
NM_004369.4(COL6A3):c.5343C>A (p.Ile1781=)
|
|
|
NM_004369.4(COL6A3):c.5430G>A (p.Glu1810=)
|
|
|
NM_004369.4(COL6A3):c.576G>A (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.6498G>A (p.Glu2166=)
|
rs1574972574
|
|
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
|
|
|
NM_004369.4(COL6A3):c.6931-51G>C
|
rs111498339
|
|
NM_004369.4(COL6A3):c.6978T>G (p.Gly2326=)
|
rs755565292
|
|
NM_004369.4(COL6A3):c.7093-201C>T
|
rs111940831
|
|
NM_004369.4(COL6A3):c.7163-44G>A
|
rs113448987
|
|
NM_004369.4(COL6A3):c.7284T>C (p.Ile2428=)
|
rs1574948591
|
|
NM_004369.4(COL6A3):c.7332G>A (p.Arg2444=)
|
rs761741342
|
|
NM_004369.4(COL6A3):c.7338T>C (p.Ala2446=)
|
|
|
NM_004369.4(COL6A3):c.7434G>T (p.Val2478=)
|
rs776779589
|
|
NM_004369.4(COL6A3):c.7668+95C>A
|
rs11885964
|
|
NM_004369.4(COL6A3):c.7668+95C>G
|
rs11885964
|
|
NM_004369.4(COL6A3):c.7746C>A (p.Leu2582=)
|
rs751294512
|
|
NM_004369.4(COL6A3):c.7881T>G (p.Ala2627=)
|
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
NM_004369.4(COL6A3):c.8465-18T>C
|
rs1318549888
|
|
NM_004369.4(COL6A3):c.8465-7dup
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8604C>T (p.Ser2868=)
|
|
|
NM_004369.4(COL6A3):c.8652C>T (p.Thr2884=)
|
|
|
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2])
|
rs746284792
|
|
NM_004369.4(COL6A3):c.8673C>A (p.Thr2891=)
|
|
|
NM_004369.4(COL6A3):c.8966-321G>A
|
rs55820303
|
|
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
|
|
|
NM_004369.4(COL6A3):c.9201A>G (p.Arg3067=)
|
rs1336555076
|
|