NM_001848.3(COL6A1):c.2434+15A>G
|
rs2236485
|
0.87616
|
NM_001848.3(COL6A1):c.428+14A>G
|
rs3746993
|
0.87078
|
NM_001848.3(COL6A1):c.859-19A>G
|
rs2277814
|
0.86865
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
NM_001848.3(COL6A1):c.1461+18C>A
|
rs2276254
|
0.58488
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
NM_001848.3(COL6A1):c.1956+15C>T
|
rs11701124
|
0.48762
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001849.4(COL6A2):c.928-19C>T
|
rs762438
|
0.45414
|
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_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
|
rs1053312
|
0.32867
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
NM_001848.3(COL6A1):c.2434+20G>A
|
rs2236486
|
0.31361
|
NM_001848.3(COL6A1):c.1957-11C>T
|
rs8132521
|
0.28523
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)
|
rs2645774
|
0.23421
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
NM_001849.4(COL6A2):c.1333-8T>C
|
rs73159701
|
0.17496
|
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)
|
rs13051496
|
0.15479
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)
|
rs9977394
|
0.13855
|
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)
|
rs2291795
|
0.12954
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10531
|
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)
|
rs59531343
|
0.09859
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
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_001849.4(COL6A2):c.1770+4G>A
|
rs9981981
|
0.06098
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=)
|
rs34904623
|
0.03265
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
NM_004369.4(COL6A3):c.1313-17A>G
|
rs7579816
|
0.02624
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=)
|
rs7279254
|
0.02172
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02152
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.02035
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
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_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_001848.3(COL6A1):c.1524+15G>A
|
rs116000285
|
0.01582
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=)
|
rs34367758
|
0.01387
|
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)
|
rs112290343
|
0.01385
|
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=)
|
rs80244281
|
0.01378
|
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)
|
rs35489467
|
0.01378
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)
|
rs1042930
|
0.01149
|
NM_004369.4(COL6A3):c.768C>T (p.Val256=)
|
rs79606264
|
0.01148
|
NM_001848.3(COL6A1):c.645G>A (p.Ala215=)
|
rs115292913
|
0.01120
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_001849.4(COL6A2):c.1672-12G>A
|
rs113857622
|
0.00860
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln)
|
rs35059000
|
0.00775
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_001848.3(COL6A1):c.1612-10G>A
|
rs141892165
|
0.00714
|
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)
|
rs76576170
|
0.00714
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_001848.3(COL6A1):c.1182+20C>T
|
rs7275706
|
0.00705
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
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_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
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_001849.4(COL6A2):c.2769C>T (p.His923=)
|
rs140419176
|
0.00591
|
NM_001848.3(COL6A1):c.739-18C>T
|
rs144843800
|
0.00561
|
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=)
|
rs35556524
|
0.00550
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
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_001848.3(COL6A1):c.777G>A (p.Pro259=)
|
rs61735854
|
0.00491
|
NM_001848.3(COL6A1):c.579C>T (p.Pro193=)
|
rs61751027
|
0.00488
|
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)
|
rs79313758
|
0.00483
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=)
|
rs112815265
|
0.00444
|
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.9069C>T (p.Thr3023=)
|
rs111234422
|
0.00431
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu)
|
rs112928650
|
0.00421
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_004369.4(COL6A3):c.709+11C>T
|
rs111660070
|
0.00395
|
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.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile)
|
rs111859552
|
0.00388
|
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=)
|
rs112382351
|
0.00388
|
NM_004369.4(COL6A3):c.6211-3C>T
|
rs139622600
|
0.00387
|
NM_001849.4(COL6A2):c.2886C>T (p.His962=)
|
rs115970356
|
0.00365
|
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=)
|
rs113961575
|
0.00363
|
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=)
|
rs112040282
|
0.00360
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
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_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)
|
rs115957676
|
0.00299
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
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.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)
|
rs61735830
|
0.00258
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
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_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
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_001849.4(COL6A2):c.1671+9C>T
|
rs186428044
|
0.00210
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)
|
rs144482400
|
0.00202
|
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)
|
rs151158105
|
0.00200
|
NM_001849.4(COL6A2):c.81G>A (p.Ser27=)
|
rs111639540
|
0.00199
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)
|
rs147194375
|
0.00185
|
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)
|
rs113781746
|
0.00178
|
NM_001848.3(COL6A1):c.1336-15C>T
|
rs201003020
|
0.00174
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
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_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=)
|
rs34978064
|
0.00147
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
|
rs143695871
|
0.00132
|
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
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_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met)
|
rs35524572
|
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_001848.3(COL6A1):c.2469G>A (p.Thr823=)
|
rs146662894
|
0.00112
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)
|
rs141620374
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_001848.3(COL6A1):c.1336-17G>A
|
rs185337381
|
0.00103
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile)
|
rs117668143
|
0.00101
|
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.2423-11C>T
|
rs199952790
|
0.00096
|
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=)
|
rs147199350
|
0.00096
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
NM_004369.4(COL6A3):c.91+11G>C
|
rs372744024
|
0.00089
|
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_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)
|
rs35887009
|
0.00080
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00076
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
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_001848.3(COL6A1):c.984C>T (p.Asp328=)
|
rs781038607
|
0.00072
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser)
|
rs114549120
|
0.00071
|
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)
|
rs144358858
|
0.00070
|
NM_001848.3(COL6A1):c.981C>T (p.Ile327=)
|
rs138401567
|
0.00068
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00068
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)
|
rs142882745
|
0.00065
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
0.00063
|
NM_004369.4(COL6A3):c.6310-18C>T
|
rs112905665
|
0.00062
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)
|
rs143631346
|
0.00058
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser)
|
rs76646066
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_001848.3(COL6A1):c.1525-18G>A
|
rs112502822
|
0.00054
|
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu)
|
rs74425496
|
0.00054
|
NM_001848.3(COL6A1):c.1273-4T>C
|
rs373909354
|
0.00053
|
NM_001849.4(COL6A2):c.2462-12G>A
|
rs369839157
|
0.00053
|
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
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_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_001849.4(COL6A2):c.1969+17C>T
|
rs539735984
|
0.00048
|
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)
|
rs145460820
|
0.00048
|
NM_001849.4(COL6A2):c.928-9C>T
|
rs200571090
|
0.00048
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
NM_004369.4(COL6A3):c.5500+19A>G
|
rs187794916
|
0.00045
|
NM_001848.3(COL6A1):c.3002G>A (p.Ser1001Asn)
|
rs756372387
|
0.00044
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=)
|
rs144249704
|
0.00044
|
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=)
|
rs111938213
|
0.00043
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=)
|
rs148713779
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)
|
rs145560772
|
0.00041
|
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)
|
rs186775751
|
0.00040
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=)
|
rs150219857
|
0.00039
|
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg)
|
rs2270668
|
0.00039
|
NM_001848.3(COL6A1):c.1776+11C>T
|
rs376317834
|
0.00038
|
NM_001848.3(COL6A1):c.2464+11C>T
|
rs202074876
|
0.00038
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
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_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)
|
rs183994910
|
0.00036
|
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)
|
rs201314411
|
0.00036
|
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)
|
rs142296092
|
0.00035
|
NM_004369.4(COL6A3):c.8007C>T (p.His2669=)
|
rs528369978
|
0.00035
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
NM_001849.4(COL6A2):c.1970-10C>T
|
rs373369963
|
0.00034
|
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=)
|
rs143168888
|
0.00034
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
NM_001848.3(COL6A1):c.1675-16C>T
|
rs200659458
|
0.00033
|
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_004369.4(COL6A3):c.5712C>T (p.Asp1904=)
|
rs151234107
|
0.00033
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)
|
rs114596320
|
0.00032
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_001848.3(COL6A1):c.2067-6A>G
|
rs113876477
|
0.00031
|
NM_001848.3(COL6A1):c.531C>T (p.Asn177=)
|
rs767176038
|
0.00031
|
NM_001849.4(COL6A2):c.1117-7C>A
|
rs202094835
|
0.00031
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
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.8243C>T (p.Pro2748Leu)
|
rs115595706
|
0.00031
|
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=)
|
rs114684687
|
0.00031
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=)
|
rs116760648
|
0.00029
|
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)
|
rs113332380
|
0.00029
|
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)
|
rs370397767
|
0.00029
|
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=)
|
rs34390834
|
0.00029
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)
|
rs144054353
|
0.00029
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)
|
rs374267444
|
0.00028
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)
|
rs375452881
|
0.00027
|
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)
|
rs375966817
|
0.00027
|
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)
|
rs113360085
|
0.00027
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=)
|
rs375729592
|
0.00027
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
NM_001848.3(COL6A1):c.1003-10C>T
|
rs182440627
|
0.00026
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
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_004369.4(COL6A3):c.14G>A (p.Arg5Gln)
|
rs765276422
|
0.00026
|
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=)
|
rs115973206
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=)
|
rs143705718
|
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.5337G>A (p.Arg1779=)
|
rs756243022
|
0.00026
|
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=)
|
rs115130936
|
0.00026
|
NM_004369.4(COL6A3):c.6592-16A>T
|
rs181698279
|
0.00026
|
NM_004369.4(COL6A3):c.7092+20T>C
|
rs115681406
|
0.00026
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)
|
rs148821986
|
0.00026
|
NM_004369.4(COL6A3):c.9494-2A>G
|
rs142546062
|
0.00026
|
NM_001848.3(COL6A1):c.1776+13C>T
|
rs201734661
|
0.00025
|
NM_001848.3(COL6A1):c.2694G>A (p.Thr898=)
|
rs372931456
|
0.00025
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
NM_001848.3(COL6A1):c.957+6C>T
|
rs374926748
|
0.00025
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
0.00025
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
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_004369.4(COL6A3):c.1538G>A (p.Arg513Gln)
|
rs139498556
|
0.00024
|
NM_004369.4(COL6A3):c.3680-4G>A
|
rs376123972
|
0.00024
|
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)
|
rs142002241
|
0.00024
|
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg)
|
rs545819982
|
0.00024
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
0.00024
|
NM_001848.3(COL6A1):c.2464+19G>A
|
rs200297915
|
0.00023
|
NM_001848.3(COL6A1):c.1233C>T (p.Asp411=)
|
rs140478280
|
0.00022
|
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)
|
rs139488626
|
0.00022
|
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_001848.3(COL6A1):c.1254C>T (p.Asp418=)
|
rs148630223
|
0.00021
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
NM_001848.3(COL6A1):c.958-10C>T
|
rs200508160
|
0.00021
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=)
|
rs528635866
|
0.00021
|
NM_001849.4(COL6A2):c.2422+16C>T
|
rs372990656
|
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_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)
|
rs374134397
|
0.00021
|
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu)
|
rs199504304
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
0.00021
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
NM_001848.3(COL6A1):c.2733C>T (p.Asn911=)
|
rs144585693
|
0.00020
|
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)
|
rs148552966
|
0.00020
|
NM_001849.4(COL6A2):c.1522-20G>A
|
rs368072665
|
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_001848.3(COL6A1):c.1379T>C (p.Val460Ala)
|
rs140735590
|
0.00019
|
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=)
|
rs200023632
|
0.00019
|
NM_001848.3(COL6A1):c.759+16G>A
|
rs373366336
|
0.00019
|
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_004369.4(COL6A3):c.1065C>T (p.Ala355=)
|
rs115155458
|
0.00019
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=)
|
rs149890179
|
0.00019
|
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)
|
rs144291325
|
0.00019
|
NM_004369.4(COL6A3):c.9494-7C>T
|
rs374024399
|
0.00019
|
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)
|
rs368307185
|
0.00018
|
NM_001848.3(COL6A1):c.696C>T (p.Ile232=)
|
rs139148709
|
0.00018
|
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_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu)
|
rs138109666
|
0.00018
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)
|
rs777671647
|
0.00017
|
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=)
|
rs150509473
|
0.00017
|
NM_001848.3(COL6A1):c.409C>G (p.Leu137Val)
|
rs139648899
|
0.00017
|
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_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu)
|
rs557448772
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)
|
rs115757876
|
0.00017
|
NM_004369.4(COL6A3):c.8464+11C>T
|
rs770508359
|
0.00017
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)
|
rs200626456
|
0.00017
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00016
|
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val)
|
rs117340427
|
0.00016
|
NM_001848.3(COL6A1):c.1680C>T (p.Asn560=)
|
rs147210734
|
0.00016
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
NM_001848.3(COL6A1):c.1957-4A>G
|
rs184484842
|
0.00016
|
NM_001848.3(COL6A1):c.424G>C (p.Val142Leu)
|
rs144282452
|
0.00016
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
NM_001848.3(COL6A1):c.717+9C>T
|
rs183868804
|
0.00016
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
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.2986G>A (p.Val996Met)
|
rs142432514
|
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_004369.4(COL6A3):c.1867C>T (p.Pro623Ser)
|
rs372022185
|
0.00016
|
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)
|
rs146291186
|
0.00016
|
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)
|
rs369810455
|
0.00016
|
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)
|
rs151021451
|
0.00016
|
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=)
|
rs1460616364
|
0.00016
|
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
|
rs36020669
|
0.00016
|
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr)
|
rs751040647
|
0.00015
|
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met)
|
rs371111712
|
0.00015
|
NM_001849.4(COL6A2):c.1816+16C>T
|
rs545974833
|
0.00015
|
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_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp)
|
rs146622557
|
0.00014
|
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)
|
rs562898957
|
0.00014
|
NM_001848.3(COL6A1):c.2349G>T (p.Arg783=)
|
rs373511343
|
0.00014
|
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)
|
rs200959957
|
0.00014
|
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)
|
rs190043330
|
0.00014
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
NM_001849.4(COL6A2):c.186C>A (p.Pro62=)
|
rs762050166
|
0.00014
|
NM_001849.4(COL6A2):c.1970-13G>A
|
rs369943351
|
0.00014
|
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_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)
|
rs61729841
|
0.00014
|
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)
|
rs370719148
|
0.00014
|
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His)
|
rs115065877
|
0.00014
|
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)
|
rs372154635
|
0.00014
|
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu)
|
rs145572916
|
0.00014
|
NM_004369.4(COL6A3):c.6966+4A>C
|
rs373940717
|
0.00014
|
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=)
|
rs144834964
|
0.00014
|
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn)
|
rs575394639
|
0.00013
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
NM_001848.3(COL6A1):c.594G>A (p.Pro198=)
|
rs376592866
|
0.00013
|
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_004369.4(COL6A3):c.289C>T (p.Arg97Cys)
|
rs144651558
|
0.00013
|
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.6868C>T (p.Arg2290Cys)
|
rs116608946
|
0.00013
|
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln)
|
rs369317566
|
0.00013
|
NM_004369.4(COL6A3):c.7175-11A>G
|
rs373913396
|
0.00013
|
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn)
|
rs146872525
|
0.00013
|
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)
|
rs370246962
|
0.00013
|
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)
|
rs377455608
|
0.00012
|
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=)
|
rs148561616
|
0.00012
|
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_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)
|
rs144501019
|
0.00012
|
NM_004369.4(COL6A3):c.2497+19C>T
|
rs141966456
|
0.00012
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr)
|
rs143459232
|
0.00012
|
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)
|
rs369449472
|
0.00012
|
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp)
|
rs143074017
|
0.00012
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00012
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
NM_001848.3(COL6A1):c.1462-19G>A
|
rs191393017
|
0.00011
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
NM_001848.3(COL6A1):c.2435-18G>A
|
rs550691133
|
0.00011
|
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)
|
rs371763977
|
0.00011
|
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr)
|
rs149392243
|
0.00011
|
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)
|
rs756141940
|
0.00011
|
NM_001848.3(COL6A1):c.624G>A (p.Thr208=)
|
rs573282005
|
0.00011
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00011
|
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.2628C>T (p.Arg876=)
|
rs372413216
|
0.00011
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=)
|
rs151295731
|
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_004369.4(COL6A3):c.3205G>A (p.Val1069Met)
|
rs115297652
|
0.00011
|
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=)
|
rs144612879
|
0.00011
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)
|
rs773673162
|
0.00011
|
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile)
|
rs369537287
|
0.00011
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=)
|
rs143006225
|
0.00011
|
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)
|
rs376780810
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)
|
rs376567898
|
0.00010
|
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)
|
rs370632963
|
0.00010
|
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)
|
rs374685631
|
0.00010
|
NM_001848.3(COL6A1):c.2994C>T (p.Tyr998=)
|
rs148405880
|
0.00010
|
NM_001848.3(COL6A1):c.705C>T (p.Ile235=)
|
rs536786554
|
0.00010
|
NM_001848.3(COL6A1):c.931-5C>T
|
rs371841573
|
0.00010
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
NM_001849.4(COL6A2):c.1332+3G>A
|
rs201007156
|
0.00010
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=)
|
rs746339542
|
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.3003C>A (p.Asp1001Glu)
|
rs756253502
|
0.00010
|
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)
|
rs143891262
|
0.00010
|
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)
|
rs780353083
|
0.00010
|
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu)
|
rs115881121
|
0.00010
|
NM_004369.4(COL6A3):c.186A>G (p.Leu62=)
|
rs773733833
|
0.00010
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His)
|
rs751772951
|
0.00010
|
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val)
|
rs778808432
|
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.5838+12C>A
|
rs117734465
|
0.00010
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu)
|
rs113896755
|
0.00010
|
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)
|
rs376021820
|
0.00010
|
NM_001848.3(COL6A1):c.1092C>T (p.Pro364=)
|
rs368088970
|
0.00009
|
NM_001848.3(COL6A1):c.1399-14C>G
|
rs374784450
|
0.00009
|
NM_001848.3(COL6A1):c.227+11C>T
|
rs371425947
|
0.00009
|
NM_001848.3(COL6A1):c.227+15C>T
|
rs199730779
|
0.00009
|
NM_001848.3(COL6A1):c.2352C>T (p.Pro784=)
|
rs377558756
|
0.00009
|
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=)
|
rs771446601
|
0.00009
|
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)
|
rs377586358
|
0.00009
|
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)
|
rs370889024
|
0.00009
|
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)
|
rs199867193
|
0.00009
|
NM_001848.3(COL6A1):c.609C>T (p.Ile203=)
|
rs369590506
|
0.00009
|
NM_001848.3(COL6A1):c.894G>A (p.Gln298=)
|
rs371989252
|
0.00009
|
NM_001849.4(COL6A2):c.116-6C>T
|
rs761805565
|
0.00009
|
NM_001849.4(COL6A2):c.120G>A (p.Lys40=)
|
rs200025682
|
0.00009
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
NM_001849.4(COL6A2):c.138C>T (p.His46=)
|
rs201753549
|
0.00009
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)
|
rs557865000
|
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.2671G>A (p.Ala891Thr)
|
rs754110764
|
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+19C>T
|
rs373366455
|
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_004369.4(COL6A3):c.1557C>T (p.Asp519=)
|
rs145586177
|
0.00009
|
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)
|
rs780115806
|
0.00009
|
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His)
|
rs199601240
|
0.00009
|
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg)
|
rs755587601
|
0.00009
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)
|
rs563530370
|
0.00009
|
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=)
|
rs145048734
|
0.00009
|
NM_004369.4(COL6A3):c.414C>T (p.Ala138=)
|
rs148996231
|
0.00009
|
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)
|
rs763162762
|
0.00009
|
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)
|
rs199632952
|
0.00009
|
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn)
|
rs778940391
|
0.00009
|
NM_004369.4(COL6A3):c.5501-17G>A
|
rs200723656
|
0.00009
|
NM_004369.4(COL6A3):c.552G>A (p.Ala184=)
|
rs542204130
|
0.00009
|
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His)
|
rs368379003
|
0.00009
|
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met)
|
rs143389941
|
0.00009
|
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=)
|
rs149151423
|
0.00009
|
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp)
|
rs201938007
|
0.00009
|
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)
|
rs200239695
|
0.00009
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
NM_004369.4(COL6A3):c.6211-13T>C
|
rs751001881
|
0.00009
|
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)
|
rs114248590
|
0.00009
|
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=)
|
rs768794876
|
0.00009
|
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)
|
rs371066956
|
0.00009
|
NM_004369.4(COL6A3):c.7611G>T (p.Gly2537=)
|
rs145868338
|
0.00009
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
0.00009
|
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=)
|
rs149403952
|
0.00009
|
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=)
|
rs138683303
|
0.00009
|
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)
|
rs115729513
|
0.00009
|
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys)
|
rs371006546
|
0.00009
|
NM_004369.4(COL6A3):c.91+15C>T
|
rs117521066
|
0.00009
|
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)
|
rs147533489
|
0.00009
|
NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn)
|
rs756884829
|
0.00008
|
NM_001848.3(COL6A1):c.1777-3C>T
|
rs111263341
|
0.00008
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001848.3(COL6A1):c.474C>T (p.Asp158=)
|
rs773280332
|
0.00008
|
NM_001848.3(COL6A1):c.589-13A>G
|
rs201695574
|
0.00008
|
NM_001848.3(COL6A1):c.69G>A (p.Pro23=)
|
rs149741299
|
0.00008
|
NM_001848.3(COL6A1):c.822G>A (p.Pro274=)
|
rs886044503
|
0.00008
|
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)
|
rs373846012
|
0.00008
|
NM_001849.4(COL6A2):c.1459-13C>T
|
rs370542209
|
0.00008
|
NM_001849.4(COL6A2):c.1671+12C>T
|
rs369570961
|
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.2370C>T (p.Ser790=)
|
rs530866573
|
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.735+9C>T
|
rs377121540
|
0.00008
|
NM_001849.4(COL6A2):c.945C>T (p.Asp315=)
|
rs549800720
|
0.00008
|
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)
|
rs375022162
|
0.00008
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)
|
rs572969883
|
0.00008
|
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile)
|
rs751459281
|
0.00008
|
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile)
|
rs137910388
|
0.00008
|
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=)
|
rs369620378
|
0.00008
|
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
|
rs372247515
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=)
|
rs148877230
|
0.00008
|
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=)
|
rs368711215
|
0.00008
|
NM_004369.4(COL6A3):c.6627+18C>A
|
rs778048349
|
0.00008
|
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=)
|
rs778691629
|
0.00008
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn)
|
rs747588645
|
0.00008
|
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=)
|
rs571287679
|
0.00008
|
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)
|
rs141050617
|
0.00008
|
NM_001848.3(COL6A1):c.1612-5T>C
|
rs371587579
|
0.00007
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
NM_001848.3(COL6A1):c.1777-16G>A
|
rs199838622
|
0.00007
|
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)
|
rs764762208
|
0.00007
|
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp)
|
rs777378283
|
0.00007
|
NM_001848.3(COL6A1):c.2465-7C>T
|
rs376196793
|
0.00007
|
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn)
|
rs750512162
|
0.00007
|
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)
|
rs568865339
|
0.00007
|
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
NM_001848.3(COL6A1):c.759+20C>T
|
rs555848716
|
0.00007
|
NM_001848.3(COL6A1):c.780G>A (p.Gly260=)
|
rs143396975
|
0.00007
|
NM_001849.4(COL6A2):c.1333-15C>T
|
rs759266010
|
0.00007
|
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=)
|
rs139571947
|
0.00007
|
NM_001849.4(COL6A2):c.1969+10G>C
|
rs201259184
|
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.2462-20G>A
|
rs559932204
|
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.2880G>A (p.Ser960=)
|
rs375430758
|
0.00007
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn)
|
rs770387211
|
0.00007
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His)
|
rs776329513
|
0.00007
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile)
|
rs111584250
|
0.00007
|
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)
|
rs112172548
|
0.00007
|
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe)
|
rs779028054
|
0.00007
|
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)
|
rs140863092
|
0.00007
|
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)
|
rs149838946
|
0.00007
|
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=)
|
rs374885393
|
0.00007
|
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=)
|
rs748590690
|
0.00007
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
|
rs531282669
|
0.00007
|
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)
|
rs550085228
|
0.00007
|
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile)
|
rs886044270
|
0.00007
|
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)
|
rs777496872
|
0.00007
|
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val)
|
rs115839474
|
0.00007
|
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys)
|
rs751779784
|
0.00006
|
NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp)
|
rs368239109
|
0.00006
|
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=)
|
rs750717663
|
0.00006
|
NM_001848.3(COL6A1):c.1462-8C>T
|
rs199849694
|
0.00006
|
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn)
|
rs201935658
|
0.00006
|
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp)
|
rs755375448
|
0.00006
|
NM_001848.3(COL6A1):c.1611+20C>T
|
rs369940697
|
0.00006
|
NM_001848.3(COL6A1):c.1740+13G>T
|
rs758377899
|
0.00006
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
NM_001848.3(COL6A1):c.1854C>T (p.Phe618=)
|
rs372069776
|
0.00006
|
NM_001848.3(COL6A1):c.1855G>A (p.Val619Met)
|
rs150938324
|
0.00006
|
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)
|
rs189623561
|
0.00006
|
NM_001848.3(COL6A1):c.2157G>A (p.Pro719=)
|
rs377152990
|
0.00006
|
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)
|
rs758242849
|
0.00006
|
NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys)
|
rs398123635
|
0.00006
|
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met)
|
rs373383488
|
0.00006
|
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln)
|
rs200261890
|
0.00006
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
NM_001848.3(COL6A1):c.2434+19G>A
|
rs571644858
|
0.00006
|
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)
|
rs537763400
|
0.00006
|
NM_001848.3(COL6A1):c.261C>T (p.Asn87=)
|
rs770671793
|
0.00006
|
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)
|
rs746298580
|
0.00006
|
NM_001848.3(COL6A1):c.2745C>T (p.Asp915=)
|
rs751865624
|
0.00006
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00006
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_001848.3(COL6A1):c.2919C>T (p.Val973=)
|
rs764490258
|
0.00006
|
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val)
|
rs571641824
|
0.00006
|
NM_001848.3(COL6A1):c.357G>A (p.Ala119=)
|
rs747037863
|
0.00006
|
NM_001848.3(COL6A1):c.588+19C>T
|
rs775893001
|
0.00006
|
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)
|
rs749628937
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001848.3(COL6A1):c.739-5C>G
|
rs369946755
|
0.00006
|
NM_001848.3(COL6A1):c.789C>T (p.Gly263=)
|
rs148364156
|
0.00006
|
NM_001848.3(COL6A1):c.795C>T (p.Pro265=)
|
rs370641081
|
0.00006
|
NM_001848.3(COL6A1):c.924G>C (p.Gly308=)
|
rs374654116
|
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.1097G>A (p.Arg366Gln)
|
rs368588676
|
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.1671+17C>T
|
rs372188653
|
0.00006
|
NM_001849.4(COL6A2):c.1671+18G>A
|
rs202115968
|
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.1926C>G (p.Val642=)
|
rs770537140
|
0.00006
|
NM_001849.4(COL6A2):c.196C>T (p.Leu66=)
|
rs201055113
|
0.00006
|
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)
|
rs146323303
|
0.00006
|
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=)
|
rs373514837
|
0.00006
|
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)
|
rs377376395
|
0.00006
|
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=)
|
rs535581551
|
0.00006
|
NM_001849.4(COL6A2):c.2245G>A (p.Asp749Asn)
|
rs372913372
|
0.00006
|
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=)
|
rs373731822
|
0.00006
|
NM_001849.4(COL6A2):c.2422+6C>T
|
rs371950486
|
0.00006
|
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=)
|
rs771772739
|
0.00006
|
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=)
|
rs149697707
|
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.2754C>T (p.Gly918=)
|
rs765055618
|
0.00006
|
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln)
|
rs777354703
|
0.00006
|
NM_001849.4(COL6A2):c.2874C>T (p.His958=)
|
rs765550338
|
0.00006
|
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=)
|
rs369756029
|
0.00006
|
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser)
|
rs750027302
|
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.2994C>T (p.His998=)
|
rs376362856
|
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.464A>G (p.His155Arg)
|
rs148187245
|
0.00006
|
NM_001849.4(COL6A2):c.525G>A (p.Leu175=)
|
rs754034094
|
0.00006
|
NM_001849.4(COL6A2):c.698G>A (p.Arg233His)
|
rs146742517
|
0.00006
|
NM_001849.4(COL6A2):c.856-14G>A
|
rs759917394
|
0.00006
|
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu)
|
rs547651808
|
0.00006
|
NM_004369.4(COL6A3):c.1313-7C>T
|
rs764201905
|
0.00006
|
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly)
|
rs928706699
|
0.00006
|
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)
|
rs149330325
|
0.00006
|
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys)
|
rs200722892
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=)
|
rs142876356
|
0.00006
|
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)
|
rs147897225
|
0.00006
|
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=)
|
rs550122375
|
0.00006
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys)
|
rs114852262
|
0.00006
|
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=)
|
rs111328076
|
0.00006
|
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr)
|
rs754847515
|
0.00006
|
NM_004369.4(COL6A3):c.3679+17T>G
|
rs553819631
|
0.00006
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val)
|
rs778458923
|
0.00006
|
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn)
|
rs752977410
|
0.00006
|
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)
|
rs147701785
|
0.00006
|
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)
|
rs764225803
|
0.00006
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp)
|
rs113755498
|
0.00006
|
NM_004369.4(COL6A3):c.4900+10G>A
|
rs189411873
|
0.00006
|
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)
|
rs114131542
|
0.00006
|
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr)
|
rs767499336
|
0.00006
|
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)
|
rs760603443
|
0.00006
|
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala)
|
rs774606469
|
0.00006
|
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His)
|
rs148613877
|
0.00006
|
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln)
|
rs374825188
|
0.00006
|
NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr)
|
rs375613015
|
0.00006
|
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp)
|
rs148252611
|
0.00006
|
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu)
|
rs372281922
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln)
|
rs895701604
|
0.00006
|
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe)
|
rs768564642
|
0.00006
|
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser)
|
rs144152285
|
0.00006
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val)
|
rs114806654
|
0.00006
|
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)
|
rs748491825
|
0.00006
|
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)
|
rs367635298
|
0.00006
|
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=)
|
rs751580746
|
0.00006
|
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)
|
rs116655315
|
0.00006
|
NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg)
|
rs568632361
|
0.00006
|
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=)
|
rs182068143
|
0.00005
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser)
|
rs756467809
|
0.00005
|
NM_001848.3(COL6A1):c.2343G>A (p.Gln781=)
|
rs755487987
|
0.00005
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=)
|
rs773470822
|
0.00005
|
NM_001848.3(COL6A1):c.429-20C>T
|
rs779947824
|
0.00005
|
NM_001848.3(COL6A1):c.669C>T (p.Asp223=)
|
rs552000247
|
0.00005
|
NM_001848.3(COL6A1):c.985G>A (p.Gly329Arg)
|
rs200835287
|
0.00005
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
0.00005
|
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)
|
rs751688085
|
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.1608+15T>A
|
rs759865245
|
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.1771-13G>A
|
rs376708282
|
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.2277C>T (p.Ile759=)
|
rs201571249
|
0.00005
|
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=)
|
rs200386811
|
0.00005
|
NM_001849.4(COL6A2):c.2462-13C>T
|
rs533454494
|
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.2757A>G (p.Ala919=)
|
rs758646770
|
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.536G>A (p.Arg179Gln)
|
rs376139670
|
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.999+15G>A
|
rs372055794
|
0.00005
|
NM_004369.4(COL6A3):c.1312+7A>G
|
rs949869773
|
0.00005
|
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)
|
rs111295967
|
0.00005
|
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val)
|
rs372114508
|
0.00005
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu)
|
rs754323567
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser)
|
rs200592625
|
0.00005
|
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met)
|
rs144878757
|
0.00005
|
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr)
|
rs201722265
|
0.00005
|
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys)
|
rs144451523
|
0.00005
|
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile)
|
rs773631759
|
0.00005
|
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln)
|
rs760717002
|
0.00005
|
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)
|
rs112540218
|
0.00005
|
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly)
|
rs768711436
|
0.00005
|
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)
|
rs113251155
|
0.00005
|
NM_004369.4(COL6A3):c.6355-4G>T
|
rs755204422
|
0.00005
|
NM_004369.4(COL6A3):c.6408+16C>T
|
rs531635518
|
0.00005
|
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=)
|
rs149697986
|
0.00005
|
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)
|
rs777454204
|
0.00005
|
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala)
|
rs111927395
|
0.00005
|
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=)
|
rs369335838
|
0.00005
|
NM_004369.4(COL6A3):c.7668+16G>A
|
rs746169209
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=)
|
rs770214487
|
0.00005
|
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)
|
rs761653490
|
0.00005
|
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly)
|
rs537189097
|
0.00005
|
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)
|
rs199680718
|
0.00005
|
NM_004369.4(COL6A3):c.966C>T (p.Ile322=)
|
rs369160080
|
0.00005
|
NM_001848.3(COL6A1):c.1119+13C>T
|
rs199655304
|
0.00004
|
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=)
|
rs148492687
|
0.00004
|
NM_001848.3(COL6A1):c.1236+5G>A
|
rs376327142
|
0.00004
|
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln)
|
rs761729281
|
0.00004
|
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)
|
rs376807461
|
0.00004
|
NM_001848.3(COL6A1):c.1336-12G>A
|
rs746917431
|
0.00004
|
NM_001848.3(COL6A1):c.1336-18C>T
|
rs201516559
|
0.00004
|
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu)
|
rs746962124
|
0.00004
|
NM_001848.3(COL6A1):c.1458C>T (p.Ser486=)
|
rs377137616
|
0.00004
|
NM_001848.3(COL6A1):c.1461+4A>G
|
rs201372759
|
0.00004
|
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)
|
rs760815168
|
0.00004
|
NM_001848.3(COL6A1):c.1554C>T (p.Thr518=)
|
rs9637170
|
0.00004
|
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)
|
rs754384963
|
0.00004
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
NM_001848.3(COL6A1):c.1611+8C>T
|
rs376055208
|
0.00004
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn)
|
rs1372696070
|
0.00004
|
NM_001848.3(COL6A1):c.1675-15G>A
|
rs763344899
|
0.00004
|
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
|
rs201227573
|
0.00004
|
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys)
|
rs552634753
|
0.00004
|
NM_001848.3(COL6A1):c.1741-13G>A
|
rs201063714
|
0.00004
|
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)
|
rs759442615
|
0.00004
|
NM_001848.3(COL6A1):c.1814-8C>T
|
rs777017599
|
0.00004
|
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg)
|
rs763495943
|
0.00004
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_001848.3(COL6A1):c.1957-17C>T
|
rs370007363
|
0.00004
|
NM_001848.3(COL6A1):c.2080C>T (p.Leu694=)
|
rs1336464401
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)
|
rs753759904
|
0.00004
|
NM_001848.3(COL6A1):c.228-17G>A
|
rs528620355
|
0.00004
|
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=)
|
rs772673965
|
0.00004
|
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)
|
rs771987341
|
0.00004
|
NM_001848.3(COL6A1):c.2561G>A (p.Arg854His)
|
rs200732314
|
0.00004
|
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=)
|
rs759989949
|
0.00004
|
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys)
|
rs145846228
|
0.00004
|
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)
|
rs147716407
|
0.00004
|
NM_001848.3(COL6A1):c.2853G>A (p.Thr951=)
|
rs890068806
|
0.00004
|
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=)
|
rs369948305
|
0.00004
|
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys)
|
rs780139552
|
0.00004
|
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys)
|
rs376764211
|
0.00004
|
NM_001848.3(COL6A1):c.329G>A (p.Arg110His)
|
rs773139115
|
0.00004
|
NM_001848.3(COL6A1):c.510G>A (p.Gly170=)
|
rs373970248
|
0.00004
|
NM_001848.3(COL6A1):c.519G>A (p.Glu173=)
|
rs146071423
|
0.00004
|
NM_001848.3(COL6A1):c.588+9C>T
|
rs776935888
|
0.00004
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)
|
rs145473829
|
0.00004
|
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
|
rs757791812
|
0.00004
|
NM_001848.3(COL6A1):c.903+4C>T
|
rs200380846
|
0.00004
|
NM_001848.3(COL6A1):c.931-18C>T
|
rs755738565
|
0.00004
|
NM_001848.3(COL6A1):c.96G>A (p.Gln32=)
|
rs754988212
|
0.00004
|
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His)
|
rs760872485
|
0.00004
|
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.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.1492C>T (p.Arg498Cys)
|
rs776748046
|
0.00004
|
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln)
|
rs768933697
|
0.00004
|
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=)
|
rs377210303
|
0.00004
|
NM_001849.4(COL6A2):c.1771-14C>T
|
rs200727166
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=)
|
rs189341312
|
0.00004
|
NM_001849.4(COL6A2):c.1970-15G>A
|
rs372285273
|
0.00004
|
NM_001849.4(COL6A2):c.1970-20C>T
|
rs568102534
|
0.00004
|
NM_001849.4(COL6A2):c.1970-8G>C
|
rs771873003
|
0.00004
|
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=)
|
rs776187095
|
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.2395G>A (p.Asp799Asn)
|
rs372936386
|
0.00004
|
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)
|
rs761913437
|
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.249C>T (p.Asn83=)
|
rs151032529
|
0.00004
|
NM_001849.4(COL6A2):c.2524G>A (p.Glu842Lys)
|
rs571051982
|
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.2598C>G (p.Ala866=)
|
rs376791811
|
0.00004
|
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)
|
rs1012567148
|
0.00004
|
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=)
|
rs374163190
|
0.00004
|
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His)
|
rs554257211
|
0.00004
|
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)
|
rs757818559
|
0.00004
|
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn)
|
rs773407652
|
0.00004
|
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=)
|
rs139814466
|
0.00004
|
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=)
|
rs764590595
|
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.572C>T (p.Ala191Val)
|
rs747347320
|
0.00004
|
NM_001849.4(COL6A2):c.642C>T (p.Asn214=)
|
rs781584161
|
0.00004
|
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)
|
rs530625182
|
0.00004
|
NM_001849.4(COL6A2):c.714+10G>A
|
rs777394169
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu)
|
rs150057026
|
0.00004
|
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu)
|
rs778546141
|
0.00004
|
NM_001849.4(COL6A2):c.950G>A (p.Arg317His)
|
rs373782637
|
0.00004
|
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser)
|
rs745678446
|
0.00004
|
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=)
|
rs766367190
|
0.00004
|
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=)
|
rs775821966
|
0.00004
|
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser)
|
rs200250810
|
0.00004
|
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His)
|
rs764614021
|
0.00004
|
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=)
|
rs756709812
|
0.00004
|
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr)
|
rs372255458
|
0.00004
|
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys)
|
rs137923508
|
0.00004
|
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)
|
rs762162177
|
0.00004
|
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)
|
rs144514259
|
0.00004
|
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
|
rs377632042
|
0.00004
|
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser)
|
rs150008830
|
0.00004
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu)
|
rs138281601
|
0.00004
|
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=)
|
rs556079869
|
0.00004
|
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)
|
rs369814614
|
0.00004
|
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=)
|
rs760857131
|
0.00004
|
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=)
|
rs749992393
|
0.00004
|
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=)
|
rs1347948544
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=)
|
rs774059985
|
0.00004
|
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala)
|
rs766458324
|
0.00004
|
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)
|
rs775536678
|
0.00004
|
NM_004369.4(COL6A3):c.3070+6G>A
|
rs761124398
|
0.00004
|
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys)
|
rs774406266
|
0.00004
|
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=)
|
rs200562443
|
0.00004
|
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=)
|
rs777242754
|
0.00004
|
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)
|
rs200860322
|
0.00004
|
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=)
|
rs368285658
|
0.00004
|
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met)
|
rs774764179
|
0.00004
|
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu)
|
rs768064422
|
0.00004
|
NM_004369.4(COL6A3):c.354T>G (p.Thr118=)
|
rs751592191
|
0.00004
|
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=)
|
rs201942049
|
0.00004
|
NM_004369.4(COL6A3):c.3679+5G>T
|
rs138878144
|
0.00004
|
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)
|
rs150548221
|
0.00004
|
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp)
|
rs577927810
|
0.00004
|
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=)
|
rs763648429
|
0.00004
|
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=)
|
rs776983763
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=)
|
rs761804539
|
0.00004
|
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met)
|
rs368928992
|
0.00004
|
NM_004369.4(COL6A3):c.4285+13C>T
|
rs368338594
|
0.00004
|
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg)
|
rs141754714
|
0.00004
|
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg)
|
rs150321587
|
0.00004
|
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=)
|
rs151289203
|
0.00004
|
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met)
|
rs374493032
|
0.00004
|
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=)
|
rs747802067
|
0.00004
|
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys)
|
rs752225290
|
0.00004
|
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)
|
rs199759398
|
0.00004
|
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His)
|
rs368151192
|
0.00004
|
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)
|
rs1156524068
|
0.00004
|
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=)
|
rs766930229
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser)
|
rs192930227
|
0.00004
|
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=)
|
rs140699766
|
0.00004
|
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=)
|
rs567112070
|
0.00004
|
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn)
|
rs762035107
|
0.00004
|
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=)
|
rs760201640
|
0.00004
|
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val)
|
rs772890888
|
0.00004
|
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=)
|
rs116565519
|
0.00004
|
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His)
|
rs371441617
|
0.00004
|
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=)
|
rs114357878
|
0.00004
|
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)
|
rs781624176
|
0.00004
|
NM_004369.4(COL6A3):c.5500+15G>A
|
rs372876170
|
0.00004
|
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=)
|
rs751159969
|
0.00004
|
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu)
|
rs376002858
|
0.00004
|
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)
|
rs370806359
|
0.00004
|
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser)
|
rs771489087
|
0.00004
|
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg)
|
rs554219567
|
0.00004
|
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)
|
rs200478135
|
0.00004
|
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=)
|
rs375668409
|
0.00004
|
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln)
|
rs376715966
|
0.00004
|
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His)
|
rs185047948
|
0.00004
|
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val)
|
rs751370730
|
0.00004
|
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)
|
rs377074792
|
0.00004
|
NM_004369.4(COL6A3):c.6354+18A>C
|
rs774579188
|
0.00004
|
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala)
|
rs540633944
|
0.00004
|
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
|
rs145561490
|
0.00004
|
NM_004369.4(COL6A3):c.6471+20C>T
|
rs370407313
|
0.00004
|
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=)
|
rs374952003
|
0.00004
|
NM_004369.4(COL6A3):c.6879+15C>T
|
rs368631950
|
0.00004
|
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=)
|
rs746697715
|
0.00004
|
NM_004369.4(COL6A3):c.6931-6T>C
|
rs376338674
|
0.00004
|
NM_004369.4(COL6A3):c.6967-15C>T
|
rs112451272
|
0.00004
|
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)
|
rs201467603
|
0.00004
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)
|
rs769072338
|
0.00004
|
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln)
|
rs115863049
|
0.00004
|
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=)
|
rs751294512
|
0.00004
|
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)
|
rs140021275
|
0.00004
|
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr)
|
rs776220123
|
0.00004
|
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala)
|
rs767471920
|
0.00004
|
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly)
|
rs772602377
|
0.00004
|
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)
|
rs373680762
|
0.00004
|
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=)
|
rs113754336
|
0.00004
|
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)
|
rs746608405
|
0.00004
|
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser)
|
rs756294311
|
0.00004
|
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=)
|
rs754977455
|
0.00004
|
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)
|
rs375442243
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met)
|
rs770436761
|
0.00004
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)
|
rs374628435
|
0.00004
|
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=)
|
rs765101399
|
0.00004
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys)
|
rs138694883
|
0.00004
|
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)
|
rs537511128
|
0.00004
|
NM_001848.3(COL6A1):c.1059C>T (p.Gly353=)
|
rs371231107
|
0.00003
|
NM_001848.3(COL6A1):c.1093G>A (p.Gly365Ser)
|
rs558291025
|
0.00003
|
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)
|
rs765631918
|
0.00003
|
NM_001848.3(COL6A1):c.1272+11C>T
|
rs371785147
|
0.00003
|
NM_001848.3(COL6A1):c.1362G>A (p.Gln454=)
|
rs762392600
|
0.00003
|
NM_001848.3(COL6A1):c.1399-8C>G
|
rs749529856
|
0.00003
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
NM_001848.3(COL6A1):c.1521A>G (p.Glu507=)
|
rs781233511
|
0.00003
|
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)
|
rs201153092
|
0.00003
|
NM_001848.3(COL6A1):c.1539C>T (p.Pro513=)
|
rs150834054
|
0.00003
|
NM_001848.3(COL6A1):c.1566C>T (p.Pro522=)
|
rs753063150
|
0.00003
|
NM_001848.3(COL6A1):c.1647G>A (p.Glu549=)
|
rs532756899
|
0.00003
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)
|
rs398123634
|
0.00003
|
NM_001848.3(COL6A1):c.1957-10G>A
|
rs761863286
|
0.00003
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe)
|
rs752045107
|
0.00003
|
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val)
|
rs748997622
|
0.00003
|
NM_001848.3(COL6A1):c.2019C>T (p.His673=)
|
rs141424786
|
0.00003
|
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
|
rs142881632
|
0.00003
|
NM_001848.3(COL6A1):c.2251-20G>A
|
rs369894106
|
0.00003
|
NM_001848.3(COL6A1):c.2289C>A (p.Ile763=)
|
rs751446262
|
0.00003
|
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)
|
rs529770550
|
0.00003
|
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser)
|
rs566453317
|
0.00003
|
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val)
|
rs565089447
|
0.00003
|
NM_001848.3(COL6A1):c.262G>A (p.Ala88Thr)
|
rs540429266
|
0.00003
|
NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn)
|
rs763910773
|
0.00003
|
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys)
|
rs886043011
|
0.00003
|
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr)
|
rs771844518
|
0.00003
|
NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val)
|
rs373070436
|
0.00003
|
NM_001848.3(COL6A1):c.2910C>T (p.Phe970=)
|
rs759623301
|
0.00003
|
NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys)
|
rs568039462
|
0.00003
|
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)
|
rs746877994
|
0.00003
|
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)
|
rs763470078
|
0.00003
|
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)
|
rs781396484
|
0.00003
|
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu)
|
rs763049658
|
0.00003
|
NM_001848.3(COL6A1):c.378C>T (p.Gly126=)
|
rs776619127
|
0.00003
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
NM_001848.3(COL6A1):c.471C>T (p.Thr157=)
|
rs376650683
|
0.00003
|
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)
|
rs780638665
|
0.00003
|
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)
|
rs775946362
|
0.00003
|
NM_001848.3(COL6A1):c.706G>A (p.Val236Met)
|
rs145269003
|
0.00003
|
NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu)
|
rs748153811
|
0.00003
|
NM_001848.3(COL6A1):c.759+13C>T
|
rs1250324207
|
0.00003
|
NM_001848.3(COL6A1):c.919C>T (p.Arg307Cys)
|
rs780703597
|
0.00003
|
NM_001848.3(COL6A1):c.930+13C>T
|
rs370271954
|
0.00003
|
NM_001848.3(COL6A1):c.951C>T (p.Gly317=)
|
rs770350586
|
0.00003
|
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.1180-12C>T
|
rs1189408610
|
0.00003
|
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)
|
rs762490709
|
0.00003
|
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=)
|
rs755258603
|
0.00003
|
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)
|
rs750842859
|
0.00003
|
NM_001849.4(COL6A2):c.1395+9G>C
|
rs747883263
|
0.00003
|
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=)
|
rs145012001
|
0.00003
|
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser)
|
rs375694341
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_001849.4(COL6A2):c.1522-7C>T
|
rs200501842
|
0.00003
|
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His)
|
rs781676156
|
0.00003
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
NM_001849.4(COL6A2):c.1671+13G>A
|
rs756078022
|
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.1809G>A (p.Gly603=)
|
rs767902639
|
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.1872G>A (p.Glu624=)
|
rs147566231
|
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.1969+6C>T
|
rs374669895
|
0.00003
|
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala)
|
rs774611719
|
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.2235G>T (p.Arg745=)
|
rs773668391
|
0.00003
|
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr)
|
rs200072495
|
0.00003
|
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=)
|
rs377458657
|
0.00003
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
NM_001849.4(COL6A2):c.2461+10G>A
|
rs777710817
|
0.00003
|
NM_001849.4(COL6A2):c.2461+16C>T
|
rs769731536
|
0.00003
|
NM_001849.4(COL6A2):c.2462-17C>T
|
rs1368389922
|
0.00003
|
NM_001849.4(COL6A2):c.2462-5C>T
|
rs760890154
|
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.2548C>T (p.His850Tyr)
|
rs374166613
|
0.00003
|
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=)
|
rs1474756520
|
0.00003
|
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=)
|
rs139798208
|
0.00003
|
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
|
rs372523558
|
0.00003
|
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu)
|
rs772894756
|
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.333G>A (p.Pro111=)
|
rs370531466
|
0.00003
|
NM_001849.4(COL6A2):c.471C>T (p.Ala157=)
|
rs372298335
|
0.00003
|
NM_001849.4(COL6A2):c.522G>A (p.Lys174=)
|
rs554016354
|
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.673G>A (p.Glu225Lys)
|
rs770150581
|
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.863C>T (p.Pro288Leu)
|
rs745566911
|
0.00003
|
NM_001849.4(COL6A2):c.879C>T (p.Pro293=)
|
rs138389174
|
0.00003
|
NM_001849.4(COL6A2):c.903C>T (p.Gly301=)
|
rs541325013
|
0.00003
|
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile)
|
rs755822013
|
0.00003
|
NM_001849.4(COL6A2):c.999+14C>T
|
rs761013382
|
0.00003
|
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)
|
rs759280111
|
0.00003
|
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His)
|
rs753651742
|
0.00003
|
NM_004369.4(COL6A3):c.1506T>C (p.His502=)
|
rs770990749
|
0.00003
|
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=)
|
rs771948237
|
0.00003
|
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met)
|
rs755178814
|
0.00003
|
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=)
|
rs535142787
|
0.00003
|
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr)
|
rs150377792
|
0.00003
|
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser)
|
rs375285237
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
NM_004369.4(COL6A3):c.1898-5T>C
|
rs373563217
|
0.00003
|
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys)
|
rs368161217
|
0.00003
|
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)
|
rs748641277
|
0.00003
|
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)
|
rs529827991
|
0.00003
|
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn)
|
rs544229002
|
0.00003
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
NM_004369.4(COL6A3):c.249C>T (p.Phe83=)
|
rs758434537
|
0.00003
|
NM_004369.4(COL6A3):c.252C>T (p.Asn84=)
|
rs765786832
|
0.00003
|
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala)
|
rs747449879
|
0.00003
|
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=)
|
rs367991818
|
0.00003
|
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu)
|
rs774161895
|
0.00003
|
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)
|
rs762584015
|
0.00003
|
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu)
|
rs371991808
|
0.00003
|
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
|
rs374447921
|
0.00003
|
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser)
|
rs753056634
|
0.00003
|
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu)
|
rs75071027
|
0.00003
|
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=)
|
rs778039312
|
0.00003
|
NM_004369.4(COL6A3):c.3679+4C>T
|
rs774411894
|
0.00003
|
NM_004369.4(COL6A3):c.3680-18C>G
|
rs528379574
|
0.00003
|
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=)
|
rs113247852
|
0.00003
|
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr)
|
rs761799119
|
0.00003
|
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=)
|
rs777277026
|
0.00003
|
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=)
|
rs763164666
|
0.00003
|
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala)
|
rs760059705
|
0.00003
|
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg)
|
rs755091615
|
0.00003
|
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)
|
rs142938239
|
0.00003
|
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=)
|
rs528204718
|
0.00003
|
NM_004369.4(COL6A3):c.4285+14G>A
|
rs373893821
|
0.00003
|
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=)
|
rs751433682
|
0.00003
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile)
|
rs536452909
|
0.00003
|
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val)
|
rs759366102
|
0.00003
|
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu)
|
rs752785838
|
0.00003
|
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val)
|
rs111389165
|
0.00003
|
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=)
|
rs773082911
|
0.00003
|
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser)
|
rs747965230
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln)
|
rs1311406995
|
0.00003
|
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=)
|
rs759756382
|
0.00003
|
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His)
|
rs774808500
|
0.00003
|
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe)
|
rs754788931
|
0.00003
|
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=)
|
rs752102793
|
0.00003
|
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)
|
rs886043180
|
0.00003
|
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=)
|
rs751915461
|
0.00003
|
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)
|
rs778288464
|
0.00003
|
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=)
|
rs752905591
|
0.00003
|
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln)
|
rs780489910
|
0.00003
|
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val)
|
rs201539582
|
0.00003
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
NM_004369.4(COL6A3):c.6157-17C>T
|
rs199764618
|
0.00003
|
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
NM_004369.4(COL6A3):c.624C>T (p.Asp208=)
|
rs757316338
|
0.00003
|
NM_004369.4(COL6A3):c.6282+7C>T
|
rs779630783
|
0.00003
|
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)
|
rs768565928
|
0.00003
|
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=)
|
rs199869924
|
0.00003
|
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=)
|
rs765837100
|
0.00003
|
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=)
|
rs538533719
|
0.00003
|
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu)
|
rs398124131
|
0.00003
|
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)
|
rs141586922
|
0.00003
|
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=)
|
rs762210213
|
0.00003
|
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)
|
rs375640580
|
0.00003
|
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=)
|
rs569662223
|
0.00003
|
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile)
|
rs527516269
|
0.00003
|
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu)
|
rs754480145
|
0.00003
|
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=)
|
rs749750613
|
0.00003
|
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn)
|
rs755138368
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg)
|
rs780964113
|
0.00003
|
NM_004369.4(COL6A3):c.774C>T (p.Phe258=)
|
rs766589204
|
0.00003
|
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val)
|
rs372278071
|
0.00003
|
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val)
|
rs777305410
|
0.00003
|
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn)
|
rs765014790
|
0.00003
|
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)
|
rs398124135
|
0.00003
|
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)
|
rs373108028
|
0.00003
|
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)
|
rs115116398
|
0.00003
|
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)
|
rs763395740
|
0.00003
|
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile)
|
rs569907876
|
0.00003
|
NM_004369.4(COL6A3):c.8464+20G>C
|
rs398124136
|
0.00003
|
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)
|
rs779335085
|
0.00003
|
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=)
|
rs1417532835
|
0.00003
|
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile)
|
rs765812583
|
0.00003
|
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val)
|
rs751532649
|
0.00003
|
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser)
|
rs992204564
|
0.00003
|
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=)
|
rs199936838
|
0.00003
|
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=)
|
rs113721676
|
0.00003
|
NM_004369.4(COL6A3):c.91+16G>A
|
rs747662761
|
0.00003
|
NM_004369.4(COL6A3):c.936C>T (p.Leu312=)
|
rs377629176
|
0.00003
|
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=)
|
rs757091142
|
0.00003
|
NM_001848.3(COL6A1):c.1002+15A>T
|
rs762495019
|
0.00002
|
NM_001848.3(COL6A1):c.1005G>T (p.Gly335=)
|
rs765321809
|
0.00002
|
NM_001848.3(COL6A1):c.102C>T (p.Cys34=)
|
rs373972331
|
0.00002
|
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe)
|
rs1179596064
|
0.00002
|
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met)
|
rs1404246917
|
0.00002
|
NM_001848.3(COL6A1):c.1227G>A (p.Ala409=)
|
rs557250335
|
0.00002
|
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys)
|
rs779320527
|
0.00002
|
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)
|
rs202109302
|
0.00002
|
NM_001848.3(COL6A1):c.1611+9G>A
|
rs186975997
|
0.00002
|
NM_001848.3(COL6A1):c.1617G>A (p.Thr539=)
|
rs753448235
|
0.00002
|
NM_001848.3(COL6A1):c.1668A>G (p.Gly556=)
|
rs746081979
|
0.00002
|
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu)
|
rs766478019
|
0.00002
|
NM_001848.3(COL6A1):c.1814-18T>C
|
rs530360168
|
0.00002
|
NM_001848.3(COL6A1):c.1823-9C>T
|
rs398123633
|
0.00002
|
NM_001848.3(COL6A1):c.1911C>T (p.Phe637=)
|
rs552239546
|
0.00002
|
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile)
|
rs564072783
|
0.00002
|
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=)
|
rs139914666
|
0.00002
|
NM_001848.3(COL6A1):c.1944C>T (p.Asp648=)
|
rs567731019
|
0.00002
|
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=)
|
rs568596125
|
0.00002
|
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp)
|
rs771702139
|
0.00002
|
NM_001848.3(COL6A1):c.2034C>T (p.Ser678=)
|
rs750801808
|
0.00002
|
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
|
rs774361880
|
0.00002
|
NM_001848.3(COL6A1):c.2259C>T (p.Ser753=)
|
rs769069690
|
0.00002
|
NM_001848.3(COL6A1):c.2274C>T (p.Asp758=)
|
rs150780079
|
0.00002
|
NM_001848.3(COL6A1):c.228-18C>T
|
rs200537886
|
0.00002
|
NM_001848.3(COL6A1):c.2347C>T (p.Arg783Trp)
|
rs779362329
|
0.00002
|
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp)
|
rs767361934
|
0.00002
|
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)
|
rs143925936
|
0.00002
|
NM_001848.3(COL6A1):c.2464+12G>A
|
rs757572847
|
0.00002
|
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser)
|
rs780264446
|
0.00002
|
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)
|
rs794727582
|
0.00002
|
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)
|
rs570688674
|
0.00002
|
NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val)
|
rs766944483
|
0.00002
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn)
|
rs149331149
|
0.00002
|
NM_001848.3(COL6A1):c.2751C>T (p.Asn917=)
|
rs767760988
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr)
|
rs766416007
|
0.00002
|
NM_001848.3(COL6A1):c.2832T>C (p.Asp944=)
|
rs779665693
|
0.00002
|
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)
|
rs375007666
|
0.00002
|
NM_001848.3(COL6A1):c.2901C>T (p.Ile967=)
|
rs746750216
|
0.00002
|
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met)
|
rs751999785
|
0.00002
|
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys)
|
rs376061269
|
0.00002
|
NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val)
|
rs758399765
|
0.00002
|
NM_001848.3(COL6A1):c.2952C>T (p.Arg984=)
|
rs770653887
|
0.00002
|
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile)
|
rs781394145
|
0.00002
|
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser)
|
rs746046225
|
0.00002
|
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=)
|
rs769881364
|
0.00002
|
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met)
|
rs764765574
|
0.00002
|
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
|
rs369764291
|
0.00002
|
NM_001848.3(COL6A1):c.312G>A (p.Thr104=)
|
rs1364102125
|
0.00002
|
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)
|
rs368580280
|
0.00002
|
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)
|
rs1309822720
|
0.00002
|
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)
|
rs747665716
|
0.00002
|
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg)
|
rs754667407
|
0.00002
|
NM_001848.3(COL6A1):c.556G>C (p.Val186Leu)
|
rs886042409
|
0.00002
|
NM_001848.3(COL6A1):c.57G>A (p.Ala19=)
|
rs1172820789
|
0.00002
|
NM_001848.3(COL6A1):c.588+14C>A
|
rs983091594
|
0.00002
|
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val)
|
rs886044481
|
0.00002
|
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)
|
rs372199631
|
0.00002
|
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)
|
rs950115468
|
0.00002
|
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)
|
rs767205402
|
0.00002
|
NM_001848.3(COL6A1):c.759+11C>T
|
rs746763159
|
0.00002
|
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)
|
rs757230924
|
0.00002
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
NM_001848.3(COL6A1):c.931-4G>A
|
rs758332867
|
0.00002
|
NM_001848.3(COL6A1):c.958-9G>A
|
rs375638855
|
0.00002
|
NM_001849.4(COL6A2):c.1000-6C>T
|
rs761428568
|
0.00002
|
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.1053+10G>A
|
rs377311004
|
0.00002
|
NM_001849.4(COL6A2):c.1117-14G>A
|
rs768473305
|
0.00002
|
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala)
|
rs773528946
|
0.00002
|
NM_001849.4(COL6A2):c.115+20G>A
|
rs767925731
|
0.00002
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=)
|
rs752255976
|
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.1270-16C>T
|
rs548690364
|
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.1518C>T (p.Pro506=)
|
rs767192013
|
0.00002
|
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu)
|
rs1252515693
|
0.00002
|
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys)
|
rs368878639
|
0.00002
|
NM_001849.4(COL6A2):c.168C>T (p.Ser56=)
|
rs749106470
|
0.00002
|
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)
|
rs771658013
|
0.00002
|
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=)
|
rs748153892
|
0.00002
|
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg)
|
rs757603350
|
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.1920C>T (p.Asn640=)
|
rs143819480
|
0.00002
|
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp)
|
rs752366811
|
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.2055G>A (p.Ser685=)
|
rs752648726
|
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.2253C>T (p.Asp751=)
|
rs747494120
|
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.2420C>T (p.Pro807Leu)
|
rs768417049
|
0.00002
|
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr)
|
rs768339045
|
0.00002
|
NM_001849.4(COL6A2):c.273G>A (p.Ala91=)
|
rs753168760
|
0.00002
|
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met)
|
rs145381639
|
0.00002
|
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly)
|
rs11554668
|
0.00002
|
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)
|
rs886057168
|
0.00002
|
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His)
|
rs762812372
|
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.2892G>A (p.Met964Ile)
|
rs747174626
|
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.487G>A (p.Gly163Ser)
|
rs769456044
|
0.00002
|
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln)
|
rs376291264
|
0.00002
|
NM_001849.4(COL6A2):c.735+10G>A
|
rs748325597
|
0.00002
|
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)
|
rs760263812
|
0.00002
|
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)
|
rs763922121
|
0.00002
|
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu)
|
rs757488307
|
0.00002
|
NM_001849.4(COL6A2):c.900+13G>A
|
rs767295307
|
0.00002
|
NM_001849.4(COL6A2):c.928-10T>A
|
rs747608945
|
0.00002
|
NM_001849.4(COL6A2):c.93C>T (p.Thr31=)
|
rs953778915
|
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_004369.4(COL6A3):c.1069C>A (p.Pro357Thr)
|
rs1174559820
|
0.00002
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln)
|
rs781231935
|
0.00002
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys)
|
rs147546808
|
0.00002
|
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=)
|
rs749452623
|
0.00002
|
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile)
|
rs757748748
|
0.00002
|
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)
|
rs751952844
|
0.00002
|
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=)
|
rs763426415
|
0.00002
|
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=)
|
rs776665419
|
0.00002
|
NM_004369.4(COL6A3):c.1897+11G>A
|
rs780688368
|
0.00002
|
NM_004369.4(COL6A3):c.1897+3A>G
|
rs369549597
|
0.00002
|
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=)
|
rs988504831
|
0.00002
|
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser)
|
rs750291186
|
0.00002
|
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)
|
rs760976593
|
0.00002
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00002
|
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr)
|
rs765006452
|
0.00002
|
NM_004369.4(COL6A3):c.237T>C (p.Ala79=)
|
rs747312241
|
0.00002
|
NM_004369.4(COL6A3):c.267C>T (p.Thr89=)
|
rs757243408
|
0.00002
|
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val)
|
rs115327470
|
0.00002
|
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)
|
rs115874872
|
0.00002
|
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln)
|
rs762016120
|
0.00002
|
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile)
|
rs202122047
|
0.00002
|
NM_004369.4(COL6A3):c.2907G>A (p.Val969=)
|
rs772894785
|
0.00002
|
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=)
|
rs145203676
|
0.00002
|
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)
|
rs758482171
|
0.00002
|
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu)
|
rs977976932
|
0.00002
|
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn)
|
rs760543147
|
0.00002
|
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=)
|
rs747436841
|
0.00002
|
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)
|
rs886042997
|
0.00002
|
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)
|
rs576798969
|
0.00002
|
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=)
|
rs1434102843
|
0.00002
|
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=)
|
rs1230310524
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)
|
rs541703064
|
0.00002
|
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=)
|
rs114110705
|
0.00002
|
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=)
|
rs200722316
|
0.00002
|
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)
|
rs774461787
|
0.00002
|
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe)
|
rs750951694
|
0.00002
|
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=)
|
rs770489225
|
0.00002
|
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu)
|
rs746868834
|
0.00002
|
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile)
|
rs749556880
|
0.00002
|
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)
|
rs371075249
|
0.00002
|
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu)
|
rs759004319
|
0.00002
|
NM_004369.4(COL6A3):c.462G>A (p.Ser154=)
|
rs773051161
|
0.00002
|
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala)
|
rs150972216
|
0.00002
|
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn)
|
rs904372024
|
0.00002
|
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His)
|
rs982703428
|
0.00002
|
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr)
|
rs1034783532
|
0.00002
|
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)
|
rs766291321
|
0.00002
|
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val)
|
rs376501805
|
0.00002
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)
|
rs768420468
|
0.00002
|
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=)
|
rs398124123
|
0.00002
|
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)
|
rs770876436
|
0.00002
|
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)
|
rs770825082
|
0.00002
|
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=)
|
rs777508994
|
0.00002
|
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His)
|
rs368635334
|
0.00002
|
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val)
|
rs754618002
|
0.00002
|
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=)
|
rs771602562
|
0.00002
|
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=)
|
rs748005373
|
0.00002
|
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys)
|
rs768330671
|
0.00002
|
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)
|
rs115320113
|
0.00002
|
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)
|
rs750063736
|
0.00002
|
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His)
|
rs142090771
|
0.00002
|
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=)
|
rs774374140
|
0.00002
|
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)
|
rs886043269
|
0.00002
|
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr)
|
rs374476448
|
0.00002
|
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
|
rs750889657
|
0.00002
|
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)
|
rs781675126
|
0.00002
|
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln)
|
rs766968738
|
0.00002
|
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=)
|
rs560225578
|
0.00002
|
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys)
|
rs753307921
|
0.00002
|
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=)
|
rs375134458
|
0.00002
|
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=)
|
rs777752945
|
0.00002
|
NM_004369.4(COL6A3):c.6966+19G>T
|
rs369486630
|
0.00002
|
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
|
rs557578629
|
0.00002
|
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu)
|
rs377168716
|
0.00002
|
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp)
|
rs746420745
|
0.00002
|
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=)
|
rs747377101
|
0.00002
|
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser)
|
rs778720252
|
0.00002
|
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu)
|
rs776496050
|
0.00002
|
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)
|
rs772077690
|
0.00002
|
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=)
|
rs1255913973
|
0.00002
|
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=)
|
rs1439207088
|
0.00002
|
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=)
|
rs150815991
|
0.00002
|
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=)
|
rs751097250
|
0.00002
|
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg)
|
rs571172347
|
0.00002
|
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe)
|
rs755107410
|
0.00002
|
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=)
|
rs113423040
|
0.00002
|
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)
|
rs749169391
|
0.00002
|
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His)
|
rs769656291
|
0.00002
|
NM_004369.4(COL6A3):c.8464+12G>A
|
rs199707923
|
0.00002
|
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=)
|
rs936115881
|
0.00002
|
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=)
|
rs375994186
|
0.00002
|
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=)
|
rs751922269
|
0.00002
|
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)
|
rs757146083
|
0.00002
|
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)
|
rs536607503
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile)
|
rs776043658
|
0.00002
|
NM_004369.4(COL6A3):c.8966-20C>T
|
rs557787842
|
0.00002
|
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu)
|
rs758774990
|
0.00002
|
NM_004369.4(COL6A3):c.92-12C>G
|
rs759990390
|
0.00002
|
NM_004369.4(COL6A3):c.9329-8T>C
|
rs770436782
|
0.00002
|
NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg)
|
rs751270381
|
0.00002
|
NM_004369.4(COL6A3):c.972C>T (p.Leu324=)
|
rs761334907
|
0.00002
|
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr)
|
rs905662421
|
0.00002
|
NM_001848.3(COL6A1):c.1002+6T>C
|
rs13052179
|
0.00001
|
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe)
|
rs756091850
|
0.00001
|
NM_001848.3(COL6A1):c.1044G>A (p.Ser348=)
|
rs749001111
|
0.00001
|
NM_001848.3(COL6A1):c.1057-14C>T
|
rs572427436
|
0.00001
|
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr)
|
rs2077773578
|
0.00001
|
NM_001848.3(COL6A1):c.108G>T (p.Val36=)
|
rs1259912974
|
0.00001
|
NM_001848.3(COL6A1):c.1107G>A (p.Leu369=)
|
rs746451311
|
0.00001
|
NM_001848.3(COL6A1):c.1182+12C>T
|
rs374319468
|
0.00001
|
NM_001848.3(COL6A1):c.1182+5G>C
|
rs1473206283
|
0.00001
|
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu)
|
rs746386684
|
0.00001
|
NM_001848.3(COL6A1):c.1191G>A (p.Pro397=)
|
rs531640667
|
0.00001
|
NM_001848.3(COL6A1):c.1209C>T (p.Pro403=)
|
rs763249073
|
0.00001
|
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)
|
rs765826390
|
0.00001
|
NM_001848.3(COL6A1):c.1236+14C>T
|
rs372483312
|
0.00001
|
NM_001848.3(COL6A1):c.1236+3G>A
|
rs968780030
|
0.00001
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg)
|
rs774032338
|
0.00001
|
NM_001848.3(COL6A1):c.1273-7C>T
|
rs1478209508
|
0.00001
|
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=)
|
rs1326051791
|
0.00001
|
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr)
|
rs1436272876
|
0.00001
|
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)
|
rs753297152
|
0.00001
|
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser)
|
rs2077714741
|
0.00001
|
NM_001848.3(COL6A1):c.1330G>A (p.Asp444Asn)
|
rs778234022
|
0.00001
|
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)
|
rs764235653
|
0.00001
|
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser)
|
rs1235742792
|
0.00001
|
NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys)
|
rs1467389704
|
0.00001
|
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln)
|
rs776914710
|
0.00001
|
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu)
|
rs779748438
|
0.00001
|
NM_001848.3(COL6A1):c.1462-15C>A
|
rs1369365476
|
0.00001
|
NM_001848.3(COL6A1):c.1462-16T>G
|
rs746367774
|
0.00001
|
NM_001848.3(COL6A1):c.1462-20C>T
|
rs774637944
|
0.00001
|
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly)
|
rs2077813854
|
0.00001
|
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=)
|
rs776768334
|
0.00001
|
NM_001848.3(COL6A1):c.1525-9C>T
|
rs768508076
|
0.00001
|
NM_001848.3(COL6A1):c.1575+4A>G
|
rs1306019240
|
0.00001
|
NM_001848.3(COL6A1):c.1575+6T>C
|
rs745511169
|
0.00001
|
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
|
rs2077819024
|
0.00001
|
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)
|
rs771012175
|
0.00001
|
NM_001848.3(COL6A1):c.1597G>A (p.Ala533Thr)
|
rs546480880
|
0.00001
|
NM_001848.3(COL6A1):c.1611+12C>T
|
rs543297828
|
0.00001
|
NM_001848.3(COL6A1):c.162C>T (p.Pro54=)
|
rs775062782
|
0.00001
|
NM_001848.3(COL6A1):c.1659G>A (p.Gly553=)
|
rs746962599
|
0.00001
|
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)
|
rs886043521
|
0.00001
|
NM_001848.3(COL6A1):c.1675-10T>A
|
rs570045560
|
0.00001
|
NM_001848.3(COL6A1):c.1675-19C>T
|
rs372430900
|
0.00001
|
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)
|
rs140517685
|
0.00001
|
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)
|
rs763515261
|
0.00001
|
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
|
rs887316220
|
0.00001
|
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=)
|
rs371878987
|
0.00001
|
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser)
|
rs778884385
|
0.00001
|
NM_001848.3(COL6A1):c.1740+3G>C
|
rs1314703448
|
0.00001
|
NM_001848.3(COL6A1):c.1741-7C>T
|
rs771621923
|
0.00001
|
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala)
|
rs1462355816
|
0.00001
|
NM_001848.3(COL6A1):c.1772C>T (p.Pro591Leu)
|
rs1020480977
|
0.00001
|
NM_001848.3(COL6A1):c.1776+16T>G
|
rs780222583
|
0.00001
|
NM_001848.3(COL6A1):c.1777-17C>T
|
rs750950364
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)
|
rs201365474
|
0.00001
|
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe)
|
rs368925441
|
0.00001
|
NM_001848.3(COL6A1):c.1822+18G>A
|
rs1187486319
|
0.00001
|
NM_001848.3(COL6A1):c.1823-15C>T
|
rs747230596
|
0.00001
|
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser)
|
rs760265069
|
0.00001
|
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr)
|
rs200770631
|
0.00001
|
NM_001848.3(COL6A1):c.1839C>T (p.Pro613=)
|
rs753486364
|
0.00001
|
NM_001848.3(COL6A1):c.186C>G (p.Val62=)
|
rs1484725853
|
0.00001
|
NM_001848.3(COL6A1):c.1893C>T (p.Phe631=)
|
rs374031718
|
0.00001
|
NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr)
|
rs1237092252
|
0.00001
|
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)
|
rs886042572
|
0.00001
|
NM_001848.3(COL6A1):c.1912G>A (p.Val638Ile)
|
rs749790625
|
0.00001
|
NM_001848.3(COL6A1):c.1956+16G>A
|
rs755009917
|
0.00001
|
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=)
|
rs750677675
|
0.00001
|
NM_001848.3(COL6A1):c.1957-16G>C
|
rs373143020
|
0.00001
|
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=)
|
rs121912937
|
0.00001
|
NM_001848.3(COL6A1):c.1978G>A (p.Ala660Thr)
|
rs781341547
|
0.00001
|
NM_001848.3(COL6A1):c.2009T>C (p.Met670Thr)
|
rs776241591
|
0.00001
|
NM_001848.3(COL6A1):c.2014G>A (p.Glu672Lys)
|
rs765421411
|
0.00001
|
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly)
|
rs1255698056
|
0.00001
|
NM_001848.3(COL6A1):c.2067-18C>T
|
rs201620721
|
0.00001
|
NM_001848.3(COL6A1):c.2070C>T (p.Ala690=)
|
rs1421386259
|
0.00001
|
NM_001848.3(COL6A1):c.2097C>T (p.Gly699=)
|
rs537366421
|
0.00001
|
NM_001848.3(COL6A1):c.2127C>T (p.Tyr709=)
|
rs760039653
|
0.00001
|
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met)
|
rs765641686
|
0.00001
|
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln)
|
rs766956281
|
0.00001
|
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)
|
rs755589190
|
0.00001
|
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg)
|
rs1297620940
|
0.00001
|
NM_001848.3(COL6A1):c.2190G>A (p.Gly730=)
|
rs777828224
|
0.00001
|
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala)
|
rs765815035
|
0.00001
|
NM_001848.3(COL6A1):c.2241C>T (p.Pro747=)
|
rs753778247
|
0.00001
|
NM_001848.3(COL6A1):c.2256C>A (p.Val752=)
|
rs749698686
|
0.00001
|
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)
|
rs774657642
|
0.00001
|
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=)
|
rs761665024
|
0.00001
|
NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro)
|
rs754399146
|
0.00001
|
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser)
|
rs370546340
|
0.00001
|
NM_001848.3(COL6A1):c.2361G>A (p.Ser787=)
|
rs774817933
|
0.00001
|
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)
|
rs762499313
|
0.00001
|
NM_001848.3(COL6A1):c.2385G>A (p.Glu795=)
|
rs774423958
|
0.00001
|
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser)
|
rs750677189
|
0.00001
|
NM_001848.3(COL6A1):c.2421C>T (p.Ala807=)
|
rs1472258951
|
0.00001
|
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu)
|
rs936641232
|
0.00001
|
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe)
|
rs536370523
|
0.00001
|
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)
|
rs1422385556
|
0.00001
|
NM_001848.3(COL6A1):c.2464+18C>T
|
rs754626987
|
0.00001
|
NM_001848.3(COL6A1):c.2465-10C>T
|
rs373158112
|
0.00001
|
NM_001848.3(COL6A1):c.2465-4G>A
|
rs769559126
|
0.00001
|
NM_001848.3(COL6A1):c.2465-9G>A
|
rs757270528
|
0.00001
|
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=)
|
rs569497612
|
0.00001
|
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)
|
rs751124572
|
0.00001
|
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=)
|
rs1462765947
|
0.00001
|
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=)
|
rs151306374
|
0.00001
|
NM_001848.3(COL6A1):c.2592G>A (p.Arg864=)
|
rs766279884
|
0.00001
|
NM_001848.3(COL6A1):c.2602G>A (p.Ala868Thr)
|
rs574295337
|
0.00001
|
NM_001848.3(COL6A1):c.2608G>A (p.Asp870Asn)
|
rs746305862
|
0.00001
|
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met)
|
rs573185206
|
0.00001
|
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=)
|
rs540554122
|
0.00001
|
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)
|
rs372725624
|
0.00001
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00001
|
NM_001848.3(COL6A1):c.2693C>T (p.Thr898Met)
|
rs752473048
|
0.00001
|
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val)
|
rs766517983
|
0.00001
|
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile)
|
rs375831680
|
0.00001
|
NM_001848.3(COL6A1):c.273G>A (p.Leu91=)
|
rs759821375
|
0.00001
|
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys)
|
rs779199061
|
0.00001
|
NM_001848.3(COL6A1):c.2784C>T (p.Arg928=)
|
rs775569169
|
0.00001
|
NM_001848.3(COL6A1):c.2792C>T (p.Ser931Leu)
|
rs768598525
|
0.00001
|
NM_001848.3(COL6A1):c.2841G>A (p.Ser947=)
|
rs768757964
|
0.00001
|
NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys)
|
rs759023976
|
0.00001
|
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)
|
rs370391371
|
0.00001
|
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)
|
rs1224432118
|
0.00001
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)
|
rs751518356
|
0.00001
|
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)
|
rs767414809
|
0.00001
|
NM_001848.3(COL6A1):c.330C>T (p.Arg110=)
|
rs564528164
|
0.00001
|
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
|
rs759880017
|
0.00001
|
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro)
|
rs2077725343
|
0.00001
|
NM_001848.3(COL6A1):c.366C>T (p.Tyr122=)
|
rs770744511
|
0.00001
|
NM_001848.3(COL6A1):c.393C>T (p.Cys131=)
|
rs1020779562
|
0.00001
|
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr)
|
rs1258934082
|
0.00001
|
NM_001848.3(COL6A1):c.454T>C (p.Tyr152His)
|
rs1286529045
|
0.00001
|
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
|
rs749929221
|
0.00001
|
NM_001848.3(COL6A1):c.588+10G>A
|
rs890926408
|
0.00001
|
NM_001848.3(COL6A1):c.588+12_588+13insA
|
rs398123637
|
0.00001
|
NM_001848.3(COL6A1):c.589-20A>T
|
rs954477080
|
0.00001
|
NM_001848.3(COL6A1):c.596G>A (p.Arg199His)
|
rs201213605
|
0.00001
|
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys)
|
rs1305504243
|
0.00001
|
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)
|
rs1343618467
|
0.00001
|
NM_001848.3(COL6A1):c.615G>A (p.Thr205=)
|
rs192125814
|
0.00001
|
NM_001848.3(COL6A1):c.621C>A (p.His207Gln)
|
rs866987981
|
0.00001
|
NM_001848.3(COL6A1):c.641C>T (p.Thr214Met)
|
rs369123247
|
0.00001
|
NM_001848.3(COL6A1):c.642G>A (p.Thr214=)
|
rs529325521
|
0.00001
|
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val)
|
rs1177728735
|
0.00001
|
NM_001848.3(COL6A1):c.664C>T (p.Arg222Cys)
|
rs560001473
|
0.00001
|
NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr)
|
rs569642530
|
0.00001
|
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val)
|
rs770597799
|
0.00001
|
NM_001848.3(COL6A1):c.697G>A (p.Asp233Asn)
|
rs1259945808
|
0.00001
|
NM_001848.3(COL6A1):c.739-9C>T
|
rs886057149
|
0.00001
|
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu)
|
rs767905829
|
0.00001
|
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)
|
rs752259110
|
0.00001
|
NM_001848.3(COL6A1):c.813A>G (p.Arg271=)
|
rs748184568
|
0.00001
|
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
|
rs1482699064
|
0.00001
|
NM_001848.3(COL6A1):c.858+15G>A
|
rs763432919
|
0.00001
|
NM_001848.3(COL6A1):c.859-16_859-15insG
|
rs764606641
|
0.00001
|
NM_001848.3(COL6A1):c.876C>T (p.Leu292=)
|
rs746362485
|
0.00001
|
NM_001848.3(COL6A1):c.880C>G (p.Pro294Ala)
|
rs141572895
|
0.00001
|
NM_001848.3(COL6A1):c.903+5G>A
|
rs759468291
|
0.00001
|
NM_001848.3(COL6A1):c.903+9C>A
|
rs765060192
|
0.00001
|
NM_001848.3(COL6A1):c.904-11T>G
|
rs766924874
|
0.00001
|
NM_001848.3(COL6A1):c.904-13G>A
|
rs756720407
|
0.00001
|
NM_001848.3(COL6A1):c.920G>A (p.Arg307His)
|
rs145838277
|
0.00001
|
NM_001848.3(COL6A1):c.930+14G>A
|
rs766551754
|
0.00001
|
NM_001848.3(COL6A1):c.931-6C>A
|
rs778657187
|
0.00001
|
NM_001848.3(COL6A1):c.957+7G>A
|
rs764488809
|
0.00001
|
NM_001848.3(COL6A1):c.958-18C>T
|
rs774698729
|
0.00001
|
NM_001848.3(COL6A1):c.97+19T>C
|
rs559717823
|
0.00001
|
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.1053+9C>T
|
rs781673478
|
0.00001
|
NM_001849.4(COL6A2):c.1054-10C>T
|
rs1456017785
|
0.00001
|
NM_001849.4(COL6A2):c.1054-7C>T
|
rs762738666
|
0.00001
|
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu)
|
rs767744331
|
0.00001
|
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=)
|
rs1381119779
|
0.00001
|
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser)
|
rs1218992420
|
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.1116G>A (p.Lys372=)
|
rs762160379
|
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.1180-10C>T
|
rs777782503
|
0.00001
|
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser)
|
rs1328612494
|
0.00001
|
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=)
|
rs778836612
|
0.00001
|
NM_001849.4(COL6A2):c.1269+20_1269+21dup
|
rs762054025
|
0.00001
|
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr)
|
rs760573983
|
0.00001
|
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile)
|
rs1381049424
|
0.00001
|
NM_001849.4(COL6A2):c.12C>T (p.Gly4=)
|
rs568730672
|
0.00001
|
NM_001849.4(COL6A2):c.1332+10C>T
|
rs886042745
|
0.00001
|
NM_001849.4(COL6A2):c.1332+11G>A
|
rs915604664
|
0.00001
|
NM_001849.4(COL6A2):c.1332+11G>C
|
rs915604664
|
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.1357C>T (p.Arg453Cys)
|
rs781742477
|
0.00001
|
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr)
|
rs144735844
|
0.00001
|
NM_001849.4(COL6A2):c.1395+20C>T
|
rs374032380
|
0.00001
|
NM_001849.4(COL6A2):c.1395+6G>A
|
rs886042454
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln)
|
rs746541506
|
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.1463C>T (p.Ser488Phe)
|
rs755539822
|
0.00001
|
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=)
|
rs772436808
|
0.00001
|
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser)
|
rs553174831
|
0.00001
|
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)
|
rs770222615
|
0.00001
|
NM_001849.4(COL6A2):c.1521+10C>G
|
rs753385303
|
0.00001
|
NM_001849.4(COL6A2):c.1521+5G>A
|
rs760353646
|
0.00001
|
NM_001849.4(COL6A2):c.1522-12G>A
|
rs770511180
|
0.00001
|
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)
|
rs199842179
|
0.00001
|
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser)
|
rs780177226
|
0.00001
|
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=)
|
rs779424467
|
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.1596A>G (p.Pro532=)
|
rs1337532842
|
0.00001
|
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser)
|
rs1307667500
|
0.00001
|
NM_001849.4(COL6A2):c.1608+17G>A
|
rs748591526
|
0.00001
|
NM_001849.4(COL6A2):c.1609-17T>C
|
rs1188602280
|
0.00001
|
NM_001849.4(COL6A2):c.1609-20A>G
|
rs1291554758
|
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.1620C>T (p.Gly540=)
|
rs774587547
|
0.00001
|
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)
|
rs376303610
|
0.00001
|
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=)
|
rs564536740
|
0.00001
|
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu)
|
rs370775804
|
0.00001
|
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=)
|
rs189470660
|
0.00001
|
NM_001849.4(COL6A2):c.1734+14C>T
|
rs886057167
|
0.00001
|
NM_001849.4(COL6A2):c.1735-14C>T
|
rs762776002
|
0.00001
|
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser)
|
rs750533442
|
0.00001
|
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=)
|
rs1158803111
|
0.00001
|
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg)
|
rs917875281
|
0.00001
|
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=)
|
rs1422175519
|
0.00001
|
NM_001849.4(COL6A2):c.1770+11C>T
|
rs755518889
|
0.00001
|
NM_001849.4(COL6A2):c.1770+18C>T
|
rs1040827784
|
0.00001
|
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala)
|
rs1487977724
|
0.00001
|
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=)
|
rs751987553
|
0.00001
|
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr)
|
rs1420375071
|
0.00001
|
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=)
|
rs778401356
|
0.00001
|
NM_001849.4(COL6A2):c.1816+9C>T
|
rs1456625954
|
0.00001
|
NM_001849.4(COL6A2):c.1817-7_1817-6insA
|
rs759572010
|
0.00001
|
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
|
rs746193653
|
0.00001
|
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=)
|
rs770024474
|
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.1887C>T (p.Thr629=)
|
rs758542107
|
0.00001
|
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
|
rs554113319
|
0.00001
|
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met)
|
rs1032420539
|
0.00001
|
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala)
|
rs760227367
|
0.00001
|
NM_001849.4(COL6A2):c.1970-16C>T
|
rs370331777
|
0.00001
|
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)
|
rs758788067
|
0.00001
|
NM_001849.4(COL6A2):c.1989G>A (p.Val663=)
|
rs944558259
|
0.00001
|
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)
|
rs138948335
|
0.00001
|
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=)
|
rs771823896
|
0.00001
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys)
|
rs763502626
|
0.00001
|
NM_001849.4(COL6A2):c.207C>T (p.His69=)
|
rs754275746
|
0.00001
|
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=)
|
rs763384399
|
0.00001
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=)
|
rs759188267
|
0.00001
|
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=)
|
rs764727296
|
0.00001
|
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=)
|
rs531816975
|
0.00001
|
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys)
|
rs139627965
|
0.00001
|
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu)
|
rs746159648
|
0.00001
|
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=)
|
rs1345626063
|
0.00001
|
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=)
|
rs930056910
|
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.2221G>A (p.Asp741Asn)
|
rs1348937334
|
0.00001
|
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val)
|
rs761863452
|
0.00001
|
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu)
|
rs750009012
|
0.00001
|
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=)
|
rs367994212
|
0.00001
|
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser)
|
rs773338647
|
0.00001
|
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=)
|
rs1487961328
|
0.00001
|
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro)
|
rs982360912
|
0.00001
|
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=)
|
rs756575729
|
0.00001
|
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val)
|
rs202155540
|
0.00001
|
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg)
|
rs727502834
|
0.00001
|
NM_001849.4(COL6A2):c.2412C>T (p.Val804=)
|
rs909940106
|
0.00001
|
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=)
|
rs774494973
|
0.00001
|
NM_001849.4(COL6A2):c.2423-18C>T
|
rs866625140
|
0.00001
|
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser)
|
rs1044778936
|
0.00001
|
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)
|
rs776788517
|
0.00001
|
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)
|
rs746393019
|
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.2457A>G (p.Gln819=)
|
rs201518654
|
0.00001
|
NM_001849.4(COL6A2):c.2461+11G>A
|
rs200484565
|
0.00001
|
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)
|
rs1243558040
|
0.00001
|
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr)
|
rs11554667
|
0.00001
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
NM_001849.4(COL6A2):c.2496G>A (p.Val832=)
|
rs567775494
|
0.00001
|
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu)
|
rs727502835
|
0.00001
|
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys)
|
rs932129947
|
0.00001
|
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=)
|
rs377389081
|
0.00001
|
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys)
|
rs775590810
|
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.2590A>T (p.Thr864Ser)
|
rs780908409
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser)
|
rs1228163562
|
0.00001
|
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=)
|
rs546825359
|
0.00001
|
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg)
|
rs750318665
|
0.00001
|
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met)
|
rs771341779
|
0.00001
|
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)
|
rs773974101
|
0.00001
|
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=)
|
rs753611948
|
0.00001
|
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val)
|
rs201842315
|
0.00001
|
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser)
|
rs1337272208
|
0.00001
|
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=)
|
rs747734639
|
0.00001
|
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)
|
rs751630559
|
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.2832C>T (p.Phe944=)
|
rs912421199
|
0.00001
|
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs)
|
rs762385362
|
0.00001
|
NM_001849.4(COL6A2):c.2853C>A (p.Val951=)
|
rs745419873
|
0.00001
|
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=)
|
rs761975390
|
0.00001
|
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)
|
rs750097119
|
0.00001
|
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)
|
rs2078408746
|
0.00001
|
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)
|
rs1427750922
|
0.00001
|
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=)
|
rs759502409
|
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.2948A>T (p.Asp983Val)
|
rs754518986
|
0.00001
|
NM_001849.4(COL6A2):c.2988G>A (p.Val996=)
|
rs1221541120
|
0.00001
|
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu)
|
rs1555877365
|
0.00001
|
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=)
|
rs780794521
|
0.00001
|
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn)
|
rs750682710
|
0.00001
|
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val)
|
rs1157175258
|
0.00001
|
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)
|
rs1051148162
|
0.00001
|
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His)
|
rs751512548
|
0.00001
|
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=)
|
rs751470018
|
0.00001
|
NM_001849.4(COL6A2):c.315G>A (p.Val105=)
|
rs1467107121
|
0.00001
|
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp)
|
rs776732203
|
0.00001
|
NM_001849.4(COL6A2):c.33C>G (p.Leu11=)
|
rs765568801
|
0.00001
|
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn)
|
rs969934621
|
0.00001
|
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys)
|
rs557545831
|
0.00001
|
NM_001849.4(COL6A2):c.389G>A (p.Arg130His)
|
rs200387819
|
0.00001
|
NM_001849.4(COL6A2):c.390C>T (p.Arg130=)
|
rs544610322
|
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.468C>T (p.Phe156=)
|
rs144117982
|
0.00001
|
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr)
|
rs756242788
|
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.550G>T (p.Gly184Cys)
|
rs766523982
|
0.00001
|
NM_001849.4(COL6A2):c.576C>T (p.Pro192=)
|
rs757571306
|
0.00001
|
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)
|
rs559666084
|
0.00001
|
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg)
|
rs751632108
|
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.697C>T (p.Arg233Cys)
|
rs1379543505
|
0.00001
|
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile)
|
rs752359061
|
0.00001
|
NM_001849.4(COL6A2):c.714+14G>A
|
rs781213927
|
0.00001
|
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu)
|
rs777108595
|
0.00001
|
NM_001849.4(COL6A2):c.726C>T (p.Ala242=)
|
rs767184248
|
0.00001
|
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys)
|
rs1159588931
|
0.00001
|
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)
|
rs199806576
|
0.00001
|
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr)
|
rs1354826916
|
0.00001
|
NM_001849.4(COL6A2):c.864G>A (p.Pro288=)
|
rs375307603
|
0.00001
|
NM_001849.4(COL6A2):c.901-3C>T
|
rs112317259
|
0.00001
|
NM_001849.4(COL6A2):c.924G>A (p.Glu308=)
|
rs142674726
|
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.951C>T (p.Arg317=)
|
rs369190399
|
0.00001
|
NM_001849.4(COL6A2):c.955-10C>T
|
rs751105293
|
0.00001
|
NM_001849.4(COL6A2):c.955-17C>T
|
rs372393202
|
0.00001
|
NM_001849.4(COL6A2):c.955-6C>T
|
rs781214021
|
0.00001
|
NM_001849.4(COL6A2):c.978G>A (p.Lys326=)
|
rs1480541163
|
0.00001
|
NM_001849.4(COL6A2):c.987C>T (p.Thr329=)
|
rs748215430
|
0.00001
|
NM_001849.4(COL6A2):c.999+7G>A
|
rs199783099
|
0.00001
|
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp)
|
rs200720222
|
0.00001
|
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)
|
rs745667305
|
0.00001
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=)
|
rs779564611
|
0.00001
|
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met)
|
rs1464663206
|
0.00001
|
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)
|
rs1416475329
|
0.00001
|
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg)
|
rs200795795
|
0.00001
|
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly)
|
rs114235473
|
0.00001
|
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)
|
rs572020866
|
0.00001
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg)
|
rs778069171
|
0.00001
|
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr)
|
rs146429448
|
0.00001
|
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=)
|
rs139016980
|
0.00001
|
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=)
|
rs1207676038
|
0.00001
|
NM_004369.4(COL6A3):c.117T>C (p.Asp39=)
|
rs1574757082
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=)
|
rs761005162
|
0.00001
|
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)
|
rs377757978
|
0.00001
|
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys)
|
rs779588195
|
0.00001
|
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp)
|
rs752738273
|
0.00001
|
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr)
|
rs757316442
|
0.00001
|
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)
|
rs777693832
|
0.00001
|
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)
|
rs776324215
|
0.00001
|
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met)
|
rs1386395959
|
0.00001
|
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys)
|
rs188510971
|
0.00001
|
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala)
|
rs770496206
|
0.00001
|
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=)
|
rs773149146
|
0.00001
|
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His)
|
rs993649247
|
0.00001
|
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser)
|
rs780262157
|
0.00001
|
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val)
|
rs756181209
|
0.00001
|
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=)
|
rs574912582
|
0.00001
|
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=)
|
rs200205650
|
0.00001
|
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser)
|
rs756045079
|
0.00001
|
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His)
|
rs539057609
|
0.00001
|
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys)
|
rs1278327904
|
0.00001
|
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val)
|
rs753189030
|
0.00001
|
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala)
|
rs1362702190
|
0.00001
|
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn)
|
rs1291470412
|
0.00001
|
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser)
|
rs2077990679
|
0.00001
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=)
|
rs774234847
|
0.00001
|
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=)
|
rs138036318
|
0.00001
|
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
|
rs755382829
|
0.00001
|
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=)
|
rs368242683
|
0.00001
|
NM_004369.4(COL6A3):c.1897+1G>T
|
rs1230578718
|
0.00001
|
NM_004369.4(COL6A3):c.1897+6G>A
|
rs1189511183
|
0.00001
|
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp)
|
rs111379417
|
0.00001
|
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)
|
rs777409908
|
0.00001
|
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn)
|
rs753557181
|
0.00001
|
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=)
|
rs970623100
|
0.00001
|
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu)
|
rs1347014329
|
0.00001
|
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=)
|
rs1166349776
|
0.00001
|
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=)
|
rs1204913393
|
0.00001
|
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=)
|
rs368826874
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys)
|
rs763798987
|
0.00001
|
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)
|
rs762752112
|
0.00001
|
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr)
|
rs759150949
|
0.00001
|
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=)
|
rs780578768
|
0.00001
|
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr)
|
rs756337970
|
0.00001
|
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)
|
rs116753562
|
0.00001
|
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=)
|
rs759099641
|
0.00001
|
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly)
|
rs773202559
|
0.00001
|
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)
|
rs948586287
|
0.00001
|
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=)
|
rs1038000360
|
0.00001
|
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu)
|
rs747957874
|
0.00001
|
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile)
|
rs768905903
|
0.00001
|
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu)
|
rs374774989
|
0.00001
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
0.00001
|
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=)
|
rs892390706
|
0.00001
|
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe)
|
rs1455744375
|
0.00001
|
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=)
|
rs376409920
|
0.00001
|
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=)
|
rs764115723
|
0.00001
|
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg)
|
rs200887514
|
0.00001
|
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val)
|
rs771091001
|
0.00001
|
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=)
|
rs919417658
|
0.00001
|
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr)
|
rs773999183
|
0.00001
|
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly)
|
rs1326943912
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe)
|
rs1370199768
|
0.00001
|
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp)
|
rs149310819
|
0.00001
|
NM_004369.4(COL6A3):c.2796T>C (p.Ala932=)
|
rs1158876557
|
0.00001
|
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=)
|
rs116256579
|
0.00001
|
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe)
|
rs1441141878
|
0.00001
|
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro)
|
rs1339733240
|
0.00001
|
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=)
|
rs886470638
|
0.00001
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
0.00001
|
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=)
|
rs746610835
|
0.00001
|
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met)
|
rs769697782
|
0.00001
|
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His)
|
rs775993027
|
0.00001
|
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser)
|
rs1226873582
|
0.00001
|
NM_004369.4(COL6A3):c.290G>A (p.Arg97His)
|
rs201249839
|
0.00001
|
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr)
|
rs768292803
|
0.00001
|
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)
|
rs140437593
|
0.00001
|
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=)
|
rs541545591
|
0.00001
|
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=)
|
rs745661734
|
0.00001
|
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser)
|
rs375167315
|
0.00001
|
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser)
|
rs556864605
|
0.00001
|
NM_004369.4(COL6A3):c.3070+4T>C
|
rs201456189
|
0.00001
|
NM_004369.4(COL6A3):c.3071-21_3071-18dup
|
rs1321741683
|
0.00001
|
NM_004369.4(COL6A3):c.3071-7C>G
|
rs370229367
|
0.00001
|
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser)
|
rs1465296993
|
0.00001
|
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=)
|
rs922629653
|
0.00001
|
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=)
|
rs372619164
|
0.00001
|
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser)
|
rs748313591
|
0.00001
|
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His)
|
rs768971873
|
0.00001
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp)
|
rs2078395425
|
0.00001
|
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=)
|
rs777909478
|
0.00001
|
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile)
|
rs761490778
|
0.00001
|
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys)
|
rs1425555208
|
0.00001
|
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)
|
rs373915980
|
0.00001
|
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp)
|
rs745854120
|
0.00001
|
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr)
|
rs369460632
|
0.00001
|
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp)
|
rs1574710031
|
0.00001
|
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp)
|
rs769494656
|
0.00001
|
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe)
|
rs2077785777
|
0.00001
|
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=)
|
rs1022815311
|
0.00001
|
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn)
|
rs777599612
|
0.00001
|
NM_004369.4(COL6A3):c.345C>A (p.Thr115=)
|
rs371958092
|
0.00001
|
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)
|
rs762152367
|
0.00001
|
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met)
|
rs727502838
|
0.00001
|
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=)
|
rs199998363
|
0.00001
|
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)
|
rs762240306
|
0.00001
|
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn)
|
rs369994205
|
0.00001
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys)
|
rs886042393
|
0.00001
|
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=)
|
rs757349824
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)
|
rs1321693848
|
0.00001
|
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=)
|
rs150911180
|
0.00001
|
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn)
|
rs563617159
|
0.00001
|
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=)
|
rs927612906
|
0.00001
|
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)
|
rs781735632
|
0.00001
|
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln)
|
rs1057518127
|
0.00001
|
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=)
|
rs886042792
|
0.00001
|
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu)
|
rs372089952
|
0.00001
|
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu)
|
rs886043888
|
0.00001
|
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr)
|
rs35799634
|
0.00001
|
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val)
|
rs570869775
|
0.00001
|
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr)
|
rs779967310
|
0.00001
|
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile)
|
rs1220087503
|
0.00001
|
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu)
|
rs777759049
|
0.00001
|
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=)
|
rs765355858
|
0.00001
|
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)
|
rs766856187
|
0.00001
|
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=)
|
rs772443916
|
0.00001
|
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala)
|
rs1480888719
|
0.00001
|
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)
|
rs762544728
|
0.00001
|
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr)
|
rs745420792
|
0.00001
|
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp)
|
rs143819673
|
0.00001
|
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=)
|
rs777649526
|
0.00001
|
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)
|
rs779126378
|
0.00001
|
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val)
|
rs1167973119
|
0.00001
|
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu)
|
rs767829363
|
0.00001
|
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val)
|
rs780669785
|
0.00001
|
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln)
|
rs1210132500
|
0.00001
|
NM_004369.4(COL6A3):c.420C>T (p.Asp140=)
|
rs909857244
|
0.00001
|
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg)
|
rs398124120
|
0.00001
|
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=)
|
rs565366400
|
0.00001
|
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)
|
rs539986030
|
0.00001
|
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=)
|
rs748103971
|
0.00001
|
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys)
|
rs768522226
|
0.00001
|
NM_004369.4(COL6A3):c.4285+7T>C
|
rs781660921
|
0.00001
|
NM_004369.4(COL6A3):c.4286-4G>A
|
rs779028717
|
0.00001
|
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His)
|
rs1168273415
|
0.00001
|
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val)
|
rs1335664006
|
0.00001
|
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=)
|
rs747160916
|
0.00001
|
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)
|
rs781043870
|
0.00001
|
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=)
|
rs779603740
|
0.00001
|
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)
|
rs114736729
|
0.00001
|
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=)
|
rs558665283
|
0.00001
|
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=)
|
rs749820906
|
0.00001
|
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys)
|
rs778816180
|
0.00001
|
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His)
|
rs754840728
|
0.00001
|
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=)
|
rs755902927
|
0.00001
|
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys)
|
rs113538665
|
0.00001
|
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=)
|
rs778335651
|
0.00001
|
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His)
|
rs115765346
|
0.00001
|
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=)
|
rs1420997887
|
0.00001
|
NM_004369.4(COL6A3):c.465G>A (p.Lys155=)
|
rs771817420
|
0.00001
|
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys)
|
rs200825417
|
0.00001
|
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)
|
rs773979979
|
0.00001
|
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=)
|
rs774809714
|
0.00001
|
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met)
|
rs1211026126
|
0.00001
|
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu)
|
rs911848582
|
0.00001
|
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys)
|
rs1386145634
|
0.00001
|
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys)
|
rs931661932
|
0.00001
|
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu)
|
rs1190967394
|
0.00001
|
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu)
|
rs201532239
|
0.00001
|
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=)
|
rs199531763
|
0.00001
|
NM_004369.4(COL6A3):c.486A>G (p.Ser162=)
|
rs1477252497
|
0.00001
|
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)
|
rs149261556
|
0.00001
|
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=)
|
rs750374768
|
0.00001
|
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=)
|
rs767560639
|
0.00001
|
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile)
|
rs1341078916
|
0.00001
|
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val)
|
rs757496683
|
0.00001
|
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg)
|
rs1026210962
|
0.00001
|
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr)
|
rs886042488
|
0.00001
|
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=)
|
rs747509514
|
0.00001
|
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)
|
rs779425587
|
0.00001
|
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly)
|
rs1365983591
|
0.00001
|
NM_004369.4(COL6A3):c.514G>A (p.Val172Met)
|
rs1270503233
|
0.00001
|
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala)
|
rs752418797
|
0.00001
|
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=)
|
rs759703082
|
0.00001
|
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile)
|
rs772640905
|
0.00001
|
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu)
|
rs769177221
|
0.00001
|
NM_004369.4(COL6A3):c.522A>G (p.Ala174=)
|
rs1477904627
|
0.00001
|
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)
|
rs756781502
|
0.00001
|
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu)
|
rs777266074
|
0.00001
|
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met)
|
rs201147199
|
0.00001
|
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=)
|
rs886043174
|
0.00001
|
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu)
|
rs764975992
|
0.00001
|
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val)
|
rs1477823319
|
0.00001
|
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser)
|
rs750040219
|
0.00001
|
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu)
|
rs1271500443
|
0.00001
|
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys)
|
rs886044508
|
0.00001
|
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg)
|
rs751626953
|
0.00001
|
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg)
|
rs1375661246
|
0.00001
|
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=)
|
rs377249790
|
0.00001
|
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr)
|
rs2077562058
|
0.00001
|
NM_004369.4(COL6A3):c.5501-9C>A
|
rs1426149492
|
0.00001
|
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val)
|
rs747200439
|
0.00001
|
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn)
|
rs78904746
|
0.00001
|
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His)
|
rs201313985
|
0.00001
|
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)
|
rs148488423
|
0.00001
|
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=)
|
rs114259747
|
0.00001
|
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys)
|
rs772269570
|
0.00001
|
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His)
|
rs748330667
|
0.00001
|
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=)
|
rs886055807
|
0.00001
|
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=)
|
rs886055807
|
0.00001
|
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=)
|
rs886044430
|
0.00001
|
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu)
|
rs1423516861
|
0.00001
|
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu)
|
rs760532694
|
0.00001
|
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=)
|
rs200999503
|
0.00001
|
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys)
|
rs1159000538
|
0.00001
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile)
|
rs778162038
|
0.00001
|
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=)
|
rs764231408
|
0.00001
|
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
|
rs763172498
|
0.00001
|
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=)
|
rs555406717
|
0.00001
|
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=)
|
rs771317034
|
0.00001
|
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala)
|
rs1293700251
|
0.00001
|
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=)
|
rs113283088
|
0.00001
|
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=)
|
rs2077534219
|
0.00001
|
NM_004369.4(COL6A3):c.5838+7G>C
|
rs369931091
|
0.00001
|
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)
|
rs727503884
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln)
|
rs767725940
|
0.00001
|
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe)
|
rs763429012
|
0.00001
|
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)
|
rs376548186
|
0.00001
|
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=)
|
rs367696163
|
0.00001
|
NM_004369.4(COL6A3):c.6064-4G>A
|
rs762819140
|
0.00001
|
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys)
|
rs1001689383
|
0.00001
|
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=)
|
rs576524993
|
0.00001
|
NM_004369.4(COL6A3):c.6156+16C>T
|
rs779455691
|
0.00001
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=)
|
rs1172901266
|
0.00001
|
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=)
|
rs777351827
|
0.00001
|
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp)
|
rs765647487
|
0.00001
|
NM_004369.4(COL6A3):c.6211-9del
|
rs1280994015
|
0.00001
|
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser)
|
rs1364892747
|
0.00001
|
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=)
|
rs777097924
|
0.00001
|
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=)
|
rs1156803322
|
0.00001
|
NM_004369.4(COL6A3):c.6282+9T>C
|
rs1038994935
|
0.00001
|
NM_004369.4(COL6A3):c.6283-15C>T
|
rs757187481
|
0.00001
|
NM_004369.4(COL6A3):c.6291G>T (p.Arg2097=)
|
rs761280470
|
0.00001
|
NM_004369.4(COL6A3):c.6309+4T>G
|
rs1421626951
|
0.00001
|
NM_004369.4(COL6A3):c.630A>G (p.Val210=)
|
rs914512334
|
0.00001
|
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp)
|
rs1235042491
|
0.00001
|
NM_004369.4(COL6A3):c.6354+16C>T
|
rs1314468175
|
0.00001
|
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)
|
rs894679602
|
0.00001
|
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala)
|
rs746104217
|
0.00001
|
NM_004369.4(COL6A3):c.6471+8T>C
|
rs747540355
|
0.00001
|
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=)
|
rs1349524156
|
0.00001
|
NM_004369.4(COL6A3):c.6472-13A>G
|
rs1156922421
|
0.00001
|
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala)
|
rs774784273
|
0.00001
|
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg)
|
rs532433812
|
0.00001
|
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)
|
rs776493521
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu)
|
rs761812649
|
0.00001
|
NM_004369.4(COL6A3):c.6592-3C>T
|
rs760143724
|
0.00001
|
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser)
|
rs1257553370
|
0.00001
|
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)
|
rs774115247
|
0.00001
|
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile)
|
rs376621780
|
0.00001
|
NM_004369.4(COL6A3):c.6691-3C>T
|
rs757686067
|
0.00001
|
NM_004369.4(COL6A3):c.6691-8T>G
|
rs1308697483
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser)
|
rs1330724943
|
0.00001
|
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr)
|
rs745877985
|
0.00001
|
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)
|
rs749855513
|
0.00001
|
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu)
|
rs773775745
|
0.00001
|
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr)
|
rs779359869
|
0.00001
|
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg)
|
rs1268762655
|
0.00001
|
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp)
|
rs751115326
|
0.00001
|
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln)
|
rs777794580
|
0.00001
|
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=)
|
rs551512561
|
0.00001
|
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met)
|
rs759657526
|
0.00001
|
NM_004369.4(COL6A3):c.6879+16G>A
|
rs915585400
|
0.00001
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=)
|
rs764508785
|
0.00001
|
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr)
|
rs778845754
|
0.00001
|
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys)
|
rs1282952198
|
0.00001
|
NM_004369.4(COL6A3):c.6966+10C>G
|
rs995436631
|
0.00001
|
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser)
|
rs886044392
|
0.00001
|
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=)
|
rs755565292
|
0.00001
|
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys)
|
rs1435064229
|
0.00001
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=)
|
rs773164702
|
0.00001
|
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr)
|
rs886043065
|
0.00001
|
NM_004369.4(COL6A3):c.709+4A>G
|
rs1458579992
|
0.00001
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn)
|
rs778371231
|
0.00001
|
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=)
|
rs376714139
|
0.00001
|
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=)
|
rs1383762763
|
0.00001
|
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr)
|
rs1559271365
|
0.00001
|
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu)
|
rs377084627
|
0.00001
|
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)
|
rs749446863
|
0.00001
|
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln)
|
rs748029252
|
0.00001
|
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=)
|
rs749075993
|
0.00001
|
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val)
|
rs1462967965
|
0.00001
|
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys)
|
rs900113844
|
0.00001
|
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=)
|
rs750552221
|
0.00001
|
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg)
|
rs781087176
|
0.00001
|
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln)
|
rs753090057
|
0.00001
|
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn)
|
rs1269973980
|
0.00001
|
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met)
|
rs747074064
|
0.00001
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
0.00001
|
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg)
|
rs1445471566
|
0.00001
|
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu)
|
rs756868798
|
0.00001
|
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)
|
rs541928674
|
0.00001
|
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val)
|
rs794727591
|
0.00001
|
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=)
|
rs752232293
|
0.00001
|
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val)
|
rs770214397
|
0.00001
|
NM_004369.4(COL6A3):c.7668+18G>A
|
rs1234167823
|
0.00001
|
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser)
|
rs1009561726
|
0.00001
|
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu)
|
rs886055804
|
0.00001
|
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)
|
rs763187844
|
0.00001
|
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=)
|
rs756140209
|
0.00001
|
NM_004369.4(COL6A3):c.7766-14A>C
|
rs745793481
|
0.00001
|
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala)
|
rs767993846
|
0.00001
|
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=)
|
rs535306425
|
0.00001
|
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn)
|
rs756654349
|
0.00001
|
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=)
|
rs145136426
|
0.00001
|
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg)
|
rs886044041
|
0.00001
|
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr)
|
rs749100905
|
0.00001
|
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe)
|
rs572430889
|
0.00001
|
NM_004369.4(COL6A3):c.807T>C (p.Leu269=)
|
rs776357610
|
0.00001
|
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp)
|
rs964222724
|
0.00001
|
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu)
|
rs778195223
|
0.00001
|
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val)
|
rs1311630536
|
0.00001
|
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val)
|
rs762902561
|
0.00001
|
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys)
|
rs368129741
|
0.00001
|
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln)
|
rs111764507
|
0.00001
|
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe)
|
rs141344389
|
0.00001
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr)
|
rs775790310
|
0.00001
|
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly)
|
rs779036168
|
0.00001
|
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)
|
rs766217603
|
0.00001
|
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=)
|
rs1338421880
|
0.00001
|
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly)
|
rs886044347
|
0.00001
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
0.00001
|
NM_004369.4(COL6A3):c.837C>T (p.Ile279=)
|
rs772888162
|
0.00001
|
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=)
|
rs201460305
|
0.00001
|
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=)
|
rs572018781
|
0.00001
|
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)
|
rs775200499
|
0.00001
|
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser)
|
rs1335582737
|
0.00001
|
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys)
|
rs371361651
|
0.00001
|
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg)
|
rs146131332
|
0.00001
|
NM_004369.4(COL6A3):c.8465-20T>C
|
rs746788651
|
0.00001
|
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=)
|
rs748250269
|
0.00001
|
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys)
|
rs755510736
|
0.00001
|
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu)
|
rs1296360526
|
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.8615C>T (p.Thr2872Met)
|
rs759009226
|
0.00001
|
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=)
|
rs766330730
|
0.00001
|
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=)
|
rs768887961
|
0.00001
|
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu)
|
rs112178393
|
0.00001
|
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr)
|
rs377528704
|
0.00001
|
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala)
|
rs1218467207
|
0.00001
|
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu)
|
rs766551222
|
0.00001
|
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=)
|
rs114008087
|
0.00001
|
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala)
|
rs758363294
|
0.00001
|
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=)
|
rs201605617
|
0.00001
|
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)
|
rs557120711
|
0.00001
|
NM_004369.4(COL6A3):c.8966-6T>C
|
rs756239147
|
0.00001
|
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys)
|
rs148318789
|
0.00001
|
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)
|
rs747642083
|
0.00001
|
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=)
|
rs199519571
|
0.00001
|
NM_004369.4(COL6A3):c.9032G>T (p.Arg3011Met)
|
rs757374995
|
0.00001
|
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser)
|
rs529079748
|
0.00001
|
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile)
|
rs769756403
|
0.00001
|
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser)
|
rs1162064854
|
0.00001
|
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)
|
rs745651769
|
0.00001
|
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)
|
rs1370564126
|
0.00001
|
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met)
|
rs754218170
|
0.00001
|
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)
|
rs376939353
|
0.00001
|
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)
|
rs368568929
|
0.00001
|
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp)
|
rs149412478
|
0.00001
|
NM_004369.4(COL6A3):c.9229+4A>C
|
rs749872311
|
0.00001
|
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr)
|
rs779867515
|
0.00001
|
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His)
|
rs760496428
|
0.00001
|
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser)
|
rs1468004640
|
0.00001
|
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)
|
rs886042363
|
0.00001
|
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe)
|
rs112455407
|
0.00001
|
NM_004369.4(COL6A3):c.9328+8G>T
|
rs770383420
|
0.00001
|
NM_004369.4(COL6A3):c.9329-4A>T
|
rs199800564
|
0.00001
|
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys)
|
rs755613566
|
0.00001
|
NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr)
|
rs1385929254
|
0.00001
|
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser)
|
rs1699901008
|
0.00001
|
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)
|
rs1215789317
|
0.00001
|
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu)
|
rs371468515
|
0.00001
|
NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)
|
rs769392747
|
0.00001
|
NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)
|
rs886044034
|
0.00001
|
NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=)
|
rs367728719
|
0.00001
|
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val)
|
rs773786663
|
0.00001
|
NM_004369.4(COL6A3):c.984C>T (p.Phe328=)
|
rs768609958
|
0.00001
|
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg)
|
rs781141962
|
0.00001
|
NC_000002.11:g.(?_236403331)_(242801596_?)del
|
|
|
NC_000002.11:g.(?_237481970)_(238305470_?)del
|
|
|
NC_000002.11:g.(?_237481970)_(238305480_?)dup
|
|
|
NC_000002.11:g.(?_238233407)_(238305470_?)dup
|
|
|
NC_000002.11:g.(?_238233417)_(238428692_?)dup
|
|
|
NC_000002.11:g.(?_238242073)_(238243552_?)del
|
|
|
NC_000002.11:g.(?_238272973)_(238281000_?)del
|
|
|
NC_000002.11:g.(?_238289548)_(238296837_?)del
|
|
|
NC_000002.12:g.(?_236573327)_(237388194_?)dup
|
|
|
NC_000002.12:g.(?_237333450)_(237334889_?)del
|
|
|
NC_000002.12:g.(?_237358501)_(237361194_?)del
|
|
|
NC_000002.12:g.(?_237362747)_(237372158_?)del
|
|
|
NC_000002.12:g.237345214del
|
|
|
NC_000021.8:g.(?_47400663)_(47425963_?)dup
|
|
|
NC_000021.8:g.(?_47401745)_(47532511_?)dup
|
|
|
NC_000021.8:g.(?_47401755)_(47546465_?)dup
|
|
|
NC_000021.8:g.(?_47407403)_(47407578_?)del
|
|
|
NC_000021.8:g.(?_47407419)_(47408291_?)del
|
|
|
NC_000021.8:g.(?_47408988)_(47410346_?)del
|
|
|
NC_000021.8:g.(?_47410282)_(47410965_?)dup
|
|
|
NC_000021.8:g.(?_47410677)_(47410965_?)dup
|
|
|
NC_000021.8:g.(?_47417315)_(47423927_?)dup
|
|
|
NC_000021.8:g.(?_47422287)_(47423978_?)del
|
|
|
NC_000021.8:g.(?_47423046)_(47429562_?)del
|
|
|
NC_000021.8:g.(?_47517033)_(47553763_?)dup
|
|
|
NC_000021.8:g.(?_47518024)_47552476dup
|
|
|
NC_000021.8:g.(?_47529674)_(47540994_?)del
|
|
|
NC_000021.8:g.(?_47529674)_47540994del
|
|
|
NC_000021.8:g.(?_47533070)_47584395del
|
|
|
NC_000021.8:g.(?_47536545)_(47536748_?)dup
|
|
|
NC_000021.8:g.(?_47536737)_(47537399_?)del
|
|
|
NC_000021.8:g.(?_47542769)_(47546475_?)dup
|
|
|
NC_000021.8:g.(?_47545206)_(47546374_?)del
|
|
|
NC_000021.8:g.(?_47551858)_(47552476_?)dup
|
|
|
NC_000021.9:g.(?_45981831)_(46004033_?)dup
|
|
|
NC_000021.9:g.(?_45981831)_(46132572_?)del
|
|
|
NC_000021.9:g.(?_45986526)_(45987654_?)del
|
|
|
NC_000021.9:g.(?_45989064)_(45989157_?)del
|
|
|
NC_000021.9:g.(?_46111467)_(46112834_?)dup
|
|
|
NC_000021.9:g.(?_46111467)_(46121133_?)del
|
|
|
NC_000021.9:g.(?_46111477)_(46121123_?)del
|
|
|
NC_000021.9:g.(?_46113998)_(46116063_?)dup
|
|
|
NC_000021.9:g.46116773dup
|
|
|
NC_000021.9:g.46119791_46119798dup
|
|
|
NM_001848.2(COL6A1):c.1568_1575+1dup
|
rs2077817384
|
|
NM_001848.3(COL6A1):c.1002+11G>A
|
|
|
NM_001848.3(COL6A1):c.1002+13A>G
|
|
|
NM_001848.3(COL6A1):c.1002+13A>T
|
rs1340467004
|
|
NM_001848.3(COL6A1):c.1002+14G>T
|
rs775143867
|
|
NM_001848.3(COL6A1):c.1002+15A>C
|
|
|
NM_001848.3(COL6A1):c.1002+16T>C
|
rs1569518214
|
|
NM_001848.3(COL6A1):c.1002+16T>G
|
|
|
NM_001848.3(COL6A1):c.1002+17A>C
|
rs1343644341
|
|
NM_001848.3(COL6A1):c.1002+17A>G
|
|
|
NM_001848.3(COL6A1):c.1002+17A>T
|
rs1343644341
|
|
NM_001848.3(COL6A1):c.1002+20A>C
|
|
|
NM_001848.3(COL6A1):c.1002+20A>G
|
|
|
NM_001848.3(COL6A1):c.1002+21_1002+40dup
|
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG
|
rs1569518218
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
|
|
|
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA
|
rs2077768137
|
|
NM_001848.3(COL6A1):c.1002+6_1002+88del
|
rs1556425727
|
|
NM_001848.3(COL6A1):c.1002+6_1002+89del
|
|
|
NM_001848.3(COL6A1):c.1002+6_1003-135del
|
rs2123472135
|
|
NM_001848.3(COL6A1):c.1002+8G>A
|
rs759134133
|
|
NM_001848.3(COL6A1):c.1002+9G>A
|
|
|
NM_001848.3(COL6A1):c.1003-10C>G
|
rs182440627
|
|
NM_001848.3(COL6A1):c.1003-11C>T
|
|
|
NM_001848.3(COL6A1):c.1003-15del
|
rs769487412
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-1G>T
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-2A>C
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
NM_001848.3(COL6A1):c.1003-3C>G
|
rs1171069767
|
|
NM_001848.3(COL6A1):c.1003-4C>A
|
|
|
NM_001848.3(COL6A1):c.1003-8C>G
|
|
|
NM_001848.3(COL6A1):c.1005G>A (p.Gly335=)
|
|
|
NM_001848.3(COL6A1):c.1011G>C (p.Met337Ile)
|
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1023C>T (p.Gly341=)
|
|
|
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del)
|
rs398123630
|
|
NM_001848.3(COL6A1):c.1027_1056+76del
|
rs2123473096
|
|
NM_001848.3(COL6A1):c.1029A>C (p.Pro343=)
|
rs1556425843
|
|
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg)
|
rs1569518250
|
|
NM_001848.3(COL6A1):c.1037A>G (p.Lys346Arg)
|
|
|
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp)
|
rs142882745
|
|
NM_001848.3(COL6A1):c.1044G>C (p.Ser348=)
|
|
|
NM_001848.3(COL6A1):c.1047C>A (p.Pro349=)
|
rs202227298
|
|
NM_001848.3(COL6A1):c.1047C>T (p.Pro349=)
|
rs202227298
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>C
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>T
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.1056+2dup
|
|
|
NM_001848.3(COL6A1):c.1056+3A>C
|
rs2077772542
|
|
NM_001848.3(COL6A1):c.1056+4A>C
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1056+4A>G
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.1056+5G>T
|
rs886044511
|
|
NM_001848.3(COL6A1):c.1056+9C>G
|
|
|
NM_001848.3(COL6A1):c.1068A>T (p.Gly356=)
|
rs1481098445
|
|
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr)
|
rs762443936
|
|
NM_001848.3(COL6A1):c.106G>A (p.Val36Met)
|
|
|
NM_001848.3(COL6A1):c.1074T>C (p.Pro358=)
|
rs2123473427
|
|
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)
|
rs886042646
|
|
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
|
|
|
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
|
|
|
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr)
|
rs1603589147
|
|
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
|
|
|
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)
|
rs2077774072
|
|
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln)
|
rs144677931
|
|
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
|
|
|
NM_001848.3(COL6A1):c.1119+14G>A
|
|
|
NM_001848.3(COL6A1):c.1119+16C>T
|
rs1370050036
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1120-12G>T
|
|
|
NM_001848.3(COL6A1):c.1120-13C>T
|
|
|
NM_001848.3(COL6A1):c.1120-13del
|
rs766658998
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
|
|
|
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr)
|
rs2123474648
|
|
NM_001848.3(COL6A1):c.1155A>G (p.Pro385=)
|
|
|
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)
|
rs2123474665
|
|
NM_001848.3(COL6A1):c.1167A>G (p.Gly389=)
|
|
|
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
|
|
|
NM_001848.3(COL6A1):c.1182+16G>T
|
rs2123474728
|
|
NM_001848.3(COL6A1):c.1182+17C>T
|
|
|
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=)
|
rs1423443362
|
|
NM_001848.3(COL6A1):c.1183-15C>T
|
|
|
NM_001848.3(COL6A1):c.1183-18A>C
|
|
|
NM_001848.3(COL6A1):c.1191G>C (p.Pro397=)
|
rs531640667
|
|
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr)
|
rs983326119
|
|
NM_001848.3(COL6A1):c.1206C>T (p.Pro402=)
|
|
|
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=)
|
rs763249073
|
|
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
|
|
|
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp)
|
rs772775334
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
NM_001848.3(COL6A1):c.1230C>A (p.Gly410=)
|
rs147622862
|
|
NM_001848.3(COL6A1):c.1236+5G>C
|
rs376327142
|
|
NM_001848.3(COL6A1):c.1237-5C>T
|
|
|
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=)
|
rs1245856941
|
|
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
|
|
|
NM_001848.3(COL6A1):c.1266G>A (p.Gly422=)
|
|
|
NM_001848.3(COL6A1):c.126G>A (p.Leu42=)
|
|
|
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp)
|
rs1034465336
|
|
NM_001848.3(COL6A1):c.1272+12A>G
|
|
|
NM_001848.3(COL6A1):c.1272+13G>A
|
rs2123475135
|
|
NM_001848.3(COL6A1):c.1272+3G>A
|
rs2123475120
|
|
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
|
|
|
NM_001848.3(COL6A1):c.1273-12C>G
|
|
|
NM_001848.3(COL6A1):c.1273-18C>G
|
|
|
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)
|
rs2077783907
|
|
NM_001848.3(COL6A1):c.1281T>C (p.Pro427=)
|
rs2123475470
|
|
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
|
|
|
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
|
rs2077714727
|
|
NM_001848.3(COL6A1):c.1317G>A (p.Arg439=)
|
rs1569518379
|
|
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)
|
rs2123475539
|
|
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)
|
rs778234022
|
|
NM_001848.3(COL6A1):c.1335+2_1335+3del
|
|
|
NM_001848.3(COL6A1):c.1335+3G>A
|
|
|
NM_001848.3(COL6A1):c.1335+7C>T
|
rs2123475569
|
|
NM_001848.3(COL6A1):c.1335+9C>T
|
|
|
NM_001848.3(COL6A1):c.1336-16G>T
|
|
|
NM_001848.3(COL6A1):c.1336-19dup
|
|
|
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
|
|
|
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr)
|
rs886057153
|
|
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys)
|
rs762989478
|
|
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
|
|
|
NM_001848.3(COL6A1):c.135T>C (p.Ser45=)
|
|
|
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
|
|
|
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe)
|
rs375452881
|
|
NM_001848.3(COL6A1):c.1398+18G>A
|
|
|
NM_001848.3(COL6A1):c.1398+2T>G
|
rs1569518481
|
|
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=)
|
rs886042955
|
|
NM_001848.3(COL6A1):c.1399-10C>G
|
|
|
NM_001848.3(COL6A1):c.1399-17T>C
|
|
|
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys)
|
rs1235513102
|
|
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
|
|
|
NM_001848.3(COL6A1):c.1401C>T (p.Gly467=)
|
|
|
NM_001848.3(COL6A1):c.1414A>C (p.Ile472Leu)
|
rs773660427
|
|
NM_001848.3(COL6A1):c.1416C>T (p.Ile472=)
|
|
|
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg)
|
rs766667205
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.1431C>T (p.Tyr477=)
|
|
|
NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)
|
|
|
NM_001848.3(COL6A1):c.1446T>C (p.Gly482=)
|
|
|
NM_001848.3(COL6A1):c.1447C>T (p.Pro483Ser)
|
rs756017426
|
|
NM_001848.3(COL6A1):c.1461+10A>T
|
|
|
NM_001848.3(COL6A1):c.1461+7C>T
|
rs994516309
|
|
NM_001848.3(COL6A1):c.1462-12C>T
|
|
|
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp)
|
rs117340427
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
|
NM_001848.3(COL6A1):c.1485T>C (p.Pro495=)
|
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
NM_001848.3(COL6A1):c.1494C>A (p.Pro498=)
|
|
|
NM_001848.3(COL6A1):c.14G>A (p.Arg5His)
|
rs1556423460
|
|
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=)
|
rs139987124
|
|
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=)
|
rs139987124
|
|
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu)
|
rs1556428597
|
|
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser)
|
rs2123482543
|
|
NM_001848.3(COL6A1):c.1524+13C>T
|
|
|
NM_001848.3(COL6A1):c.1524+18C>T
|
|
|
NM_001848.3(COL6A1):c.1524+19G>A
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1524+19G>C
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1524+1G>A
|
|
|
NM_001848.3(COL6A1):c.1525-18G>T
|
|
|
NM_001848.3(COL6A1):c.1525-20C>T
|
|
|
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
|
|
|
NM_001848.3(COL6A1):c.1537C>T (p.Pro513Ser)
|
rs1202320827
|
|
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
|
|
|
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser)
|
rs2123483067
|
|
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)
|
rs2077817452
|
|
NM_001848.3(COL6A1):c.1575+11G>A
|
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT
|
rs758434455
|
|
NM_001848.3(COL6A1):c.1575+2dup
|
rs758434455
|
|
NM_001848.3(COL6A1):c.1576-1G>A
|
rs112814811
|
|
NM_001848.3(COL6A1):c.1576-2A>G
|
|
|
NM_001848.3(COL6A1):c.1576-2_1576-1del
|
rs1569518725
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
NM_001848.3(COL6A1):c.159G>A (p.Lys53=)
|
|
|
NM_001848.3(COL6A1):c.15T>A (p.Arg5=)
|
rs2123459083
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1611+10C>T
|
|
|
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys)
|
rs200023632
|
|
NM_001848.3(COL6A1):c.1612-11C>T
|
rs370801259
|
|
NM_001848.3(COL6A1):c.1612-13C>T
|
|
|
NM_001848.3(COL6A1):c.1612-3C>T
|
rs767913216
|
|
NM_001848.3(COL6A1):c.1612-4G>A
|
|
|
NM_001848.3(COL6A1):c.1614C>T (p.Gly538=)
|
|
|
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg)
|
rs1603593300
|
|
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
|
|
|
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
|
|
|
NM_001848.3(COL6A1):c.1645G>A (p.Glu549Lys)
|
|
|
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr)
|
rs1397088680
|
|
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
|
|
|
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)
|
rs2077822326
|
|
NM_001848.3(COL6A1):c.1662C>T (p.Asp554=)
|
|
|
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
|
|
|
NM_001848.3(COL6A1):c.1674+15G>C
|
rs749423625
|
|
NM_001848.3(COL6A1):c.1674+1G>A
|
rs2123484131
|
|
NM_001848.3(COL6A1):c.1674+3_1674+6del
|
|
|
NM_001848.3(COL6A1):c.1674+7G>A
|
|
|
NM_001848.3(COL6A1):c.1675-5T>G
|
|
|
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=)
|
rs1603593356
|
|
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)
|
rs775182845
|
|
NM_001848.3(COL6A1):c.1719C>T (p.Tyr573=)
|
rs1013945029
|
|
NM_001848.3(COL6A1):c.1721G>C (p.Arg574Pro)
|
|
|
NM_001848.3(COL6A1):c.1722G>A (p.Arg574=)
|
rs1004303947
|
|
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
|
rs2077824006
|
|
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
|
|
|
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp)
|
rs755214430
|
|
NM_001848.3(COL6A1):c.1738del (p.Gln580fs)
|
rs2123484530
|
|
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)
|
rs1359915404
|
|
NM_001848.3(COL6A1):c.1740+14G>T
|
|
|
NM_001848.3(COL6A1):c.1740+17G>A
|
rs200299050
|
|
NM_001848.3(COL6A1):c.1740+18G>A
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1740+18G>T
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1740+19G>A
|
|
|
NM_001848.3(COL6A1):c.1740+3G>A
|
|
|
NM_001848.3(COL6A1):c.1741-14C>T
|
rs201088377
|
|
NM_001848.3(COL6A1):c.1755C>T (p.His585=)
|
|
|
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)
|
rs1188795991
|
|
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
|
|
|
NM_001848.3(COL6A1):c.1776+7G>A
|
|
|
NM_001848.3(COL6A1):c.1777-20C>G
|
|
|
NM_001848.3(COL6A1):c.1777-8C>T
|
|
|
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys)
|
rs367650141
|
|
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
|
|
|
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
|
|
|
NM_001848.3(COL6A1):c.1813+12T>C
|
|
|
NM_001848.3(COL6A1):c.1813+13G>C
|
|
|
NM_001848.3(COL6A1):c.1813+20C>T
|
|
|
NM_001848.3(COL6A1):c.1813+3_1813+6del
|
|
|
NM_001848.3(COL6A1):c.1814-15_1814-12del
|
rs1399956018
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1814-6C>T
|
|
|
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA
|
rs2077839436
|
|
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
|
|
|
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
|
|
|
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)
|
rs1439633596
|
|
NM_001848.3(COL6A1):c.1822+10A>G
|
|
|
NM_001848.3(COL6A1):c.1822+11G>A
|
rs566601241
|
|
NM_001848.3(COL6A1):c.1822+11G>T
|
rs566601241
|
|
NM_001848.3(COL6A1):c.1822+14del
|
|
|
NM_001848.3(COL6A1):c.1822+9C>G
|
rs373566530
|
|
NM_001848.3(COL6A1):c.1822+9C>T
|
|
|
NM_001848.3(COL6A1):c.1823-12C>T
|
|
|
NM_001848.3(COL6A1):c.1823-13C>T
|
rs571173076
|
|
NM_001848.3(COL6A1):c.1823-14G>A
|
|
|
NM_001848.3(COL6A1):c.1823-1G>T
|
rs1569519030
|
|
NM_001848.3(COL6A1):c.1827C>T (p.Cys609=)
|
|
|
NM_001848.3(COL6A1):c.1830G>A (p.Lys610=)
|
|
|
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val)
|
rs1222901174
|
|
NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001848.3(COL6A1):c.1840A>G (p.Ile614Val)
|
|
|
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
|
|
|
NM_001848.3(COL6A1):c.1843G>A (p.Asp615Asn)
|
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe)
|
rs1423091612
|
|
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu)
|
rs150938324
|
|
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly)
|
rs1603589342
|
|
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)
|
rs2123488904
|
|
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
|
|
|
NM_001848.3(COL6A1):c.1877T>C (p.Ile626Thr)
|
rs781626943
|
|
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=)
|
rs1447613750
|
|
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu)
|
rs552239546
|
|
NM_001848.3(COL6A1):c.1914C>T (p.Val638=)
|
rs867670442
|
|
NM_001848.3(COL6A1):c.1939C>T (p.Arg647Trp)
|
|
|
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=)
|
rs375448277
|
|
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
|
|
|
NM_001848.3(COL6A1):c.1956+11G>A
|
|
|
NM_001848.3(COL6A1):c.1956+16G>T
|
|
|
NM_001848.3(COL6A1):c.1956+19C>T
|
|
|
NM_001848.3(COL6A1):c.1956+20G>A
|
|
|
NM_001848.3(COL6A1):c.1957-8T>A
|
|
|
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln)
|
rs375318905
|
|
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
|
|
|
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu)
|
rs1260709010
|
|
NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)
|
|
|
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=)
|
rs370780432
|
|
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
|
rs771702139
|
|
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
|
|
|
NM_001848.3(COL6A1):c.1989G>A (p.Val663=)
|
rs760624194
|
|
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
|
|
|
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
|
|
|
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu)
|
rs2123459059
|
|
NM_001848.3(COL6A1):c.2019C>G (p.His673Gln)
|
rs141424786
|
|
NM_001848.3(COL6A1):c.2022G>A (p.Val674=)
|
rs764099825
|
|
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)
|
rs373731596
|
|
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
|
|
|
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)
|
rs138312247
|
|
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu)
|
rs138312247
|
|
NM_001848.3(COL6A1):c.2052G>A (p.Val684=)
|
|
|
NM_001848.3(COL6A1):c.2052G>T (p.Val684=)
|
rs1219591102
|
|
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
|
|
|
NM_001848.3(COL6A1):c.2066+12A>C
|
|
|
NM_001848.3(COL6A1):c.2066+13C>T
|
|
|
NM_001848.3(COL6A1):c.2066+15C>A
|
rs201407082
|
|
NM_001848.3(COL6A1):c.2066+15C>T
|
rs201407082
|
|
NM_001848.3(COL6A1):c.2066+16G>A
|
|
|
NM_001848.3(COL6A1):c.2066+16G>T
|
|
|
NM_001848.3(COL6A1):c.2066+2T>C
|
rs2077849329
|
|
NM_001848.3(COL6A1):c.2067-15C>T
|
|
|
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg)
|
rs2123490353
|
|
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
|
|
|
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val)
|
rs2123490392
|
|
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
|
|
|
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
|
|
|
NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)
|
|
|
NM_001848.3(COL6A1):c.2118C>T (p.Ala706=)
|
rs2077850957
|
|
NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)
|
|
|
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
|
|
|
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
|
|
|
NM_001848.3(COL6A1):c.2148G>C (p.Pro716=)
|
rs780032842
|
|
NM_001848.3(COL6A1):c.2157G>C (p.Pro719=)
|
rs377152990
|
|
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
|
|
|
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
|
|
|
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
|
|
|
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
|
|
|
NM_001848.3(COL6A1):c.2190G>T (p.Gly730=)
|
|
|
NM_001848.3(COL6A1):c.2193C>T (p.Arg731=)
|
rs1025417641
|
|
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup)
|
rs2123490613
|
|
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
|
|
|
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
|
|
|
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
|
|
|
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
|
|
|
NM_001848.3(COL6A1):c.2250+11C>T
|
|
|
NM_001848.3(COL6A1):c.2250+9G>A
|
rs1342014969
|
|
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
|
|
|
NM_001848.3(COL6A1):c.2251-11_2251-8del
|
|
|
NM_001848.3(COL6A1):c.2251-16C>T
|
rs1243894570
|
|
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
|
|
|
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
|
|
|
NM_001848.3(COL6A1):c.227+16C>T
|
|
|
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)
|
rs886042688
|
|
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
|
|
|
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=)
|
rs1434098396
|
|
NM_001848.3(COL6A1):c.2329C>T (p.Leu777=)
|
|
|
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs)
|
rs2123490954
|
|
NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)
|
|
|
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr)
|
rs2077853664
|
|
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
|
|
|
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)
|
rs886042391
|
|
NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)
|
|
|
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu)
|
rs1203093809
|
|
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=)
|
rs1603594564
|
|
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
|
|
|
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)
|
rs2077854422
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC
|
rs2123491106
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC
|
rs1569519143
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT
|
rs1569519146
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15inv
|
|
|
NM_001848.3(COL6A1):c.2434+15_2434+54del
|
rs1064795349
|
|
NM_001848.3(COL6A1):c.2434+15_2434+94del
|
rs1603594606
|
|
NM_001848.3(COL6A1):c.2434+16C>G
|
rs2123491221
|
|
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC
|
rs2123491242
|
|
NM_001848.3(COL6A1):c.2434+45_2434+124del
|
rs2123491228
|
|
NM_001848.3(COL6A1):c.2434+45_2434+84del
|
|
|
NM_001848.3(COL6A1):c.2434+4C>T
|
rs202147670
|
|
NM_001848.3(COL6A1):c.2434+5G>T
|
rs1360722232
|
|
NM_001848.3(COL6A1):c.2434+7A>C
|
rs769385161
|
|
NM_001848.3(COL6A1):c.2434+8T>A
|
rs1227258893
|
|
NM_001848.3(COL6A1):c.2434+8T>C
|
|
|
NM_001848.3(COL6A1):c.2434+8T>G
|
|
|
NM_001848.3(COL6A1):c.2434+9G>T
|
|
|
NM_001848.3(COL6A1):c.2435-13T>C
|
rs746838395
|
|
NM_001848.3(COL6A1):c.2435-13T>G
|
rs746838395
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
|
|
|
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln)
|
rs2123491909
|
|
NM_001848.3(COL6A1):c.2450A>G (p.Asp817Gly)
|
|
|
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=)
|
rs1182297662
|
|
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
|
|
|
NM_001848.3(COL6A1):c.2464+14C>T
|
|
|
NM_001848.3(COL6A1):c.2464+15G>A
|
rs753573923
|
|
NM_001848.3(COL6A1):c.2464+1G>A
|
rs113290209
|
|
NM_001848.3(COL6A1):c.2475C>T (p.Ser825=)
|
rs1009381380
|
|
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr)
|
rs1427066240
|
|
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
|
|
|
NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)
|
|
|
NM_001848.3(COL6A1):c.2511C>T (p.Ser837=)
|
|
|
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val)
|
rs1486288129
|
|
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
|
|
|
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
|
|
|
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro)
|
rs748327110
|
|
NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)
|
|
|
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
|
|
|
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
|
|
|
NM_001848.3(COL6A1):c.2580C>T (p.Leu860=)
|
rs2123492588
|
|
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
|
|
|
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=)
|
rs367832752
|
|
NM_001848.3(COL6A1):c.2595G>C (p.Thr865=)
|
rs367832752
|
|
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
|
|
|
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
|
|
|
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)
|
|
|
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
|
|
|
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)
|
rs544927344
|
|
NM_001848.3(COL6A1):c.2638G>C (p.Gly880Arg)
|
|
|
NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)
|
|
|
NM_001848.3(COL6A1):c.2654G>A (p.Arg885His)
|
|
|
NM_001848.3(COL6A1):c.2659G>A (p.Glu887Lys)
|
|
|
NM_001848.3(COL6A1):c.2663G>A (p.Arg888Gln)
|
rs138351067
|
|
NM_001848.3(COL6A1):c.2663G>C (p.Arg888Pro)
|
rs138351067
|
|
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
|
|
|
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro)
|
rs2077862405
|
|
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
|
|
|
NM_001848.3(COL6A1):c.2680C>T (p.Leu894=)
|
rs1409263435
|
|
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
|
|
|
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)
|
rs1226903258
|
|
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly)
|
rs766517983
|
|
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
|
|
|
NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)
|
|
|
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn)
|
rs757422397
|
|
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
|
|
|
NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)
|
|
|
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
|
|
|
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del)
|
rs2123492948
|
|
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
|
|
|
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
|
|
|
NM_001848.3(COL6A1):c.2766T>C (p.Tyr922=)
|
rs889975432
|
|
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly)
|
rs755340450
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
|
|
|
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
|
|
|
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
|
|
|
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del)
|
rs886043457
|
|
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
|
|
|
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
|
|
|
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)
|
rs147882179
|
|
NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)
|
|
|
NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)
|
|
|
NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)
|
|
|
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser)
|
rs150378645
|
|
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)
|
rs145811554
|
|
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)
|
rs763228065
|
|
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
|
|
|
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=)
|
rs769441014
|
|
NM_001848.3(COL6A1):c.288G>A (p.Glu96=)
|
|
|
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu)
|
rs769795690
|
|
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)
|
rs769795690
|
|
NM_001848.3(COL6A1):c.2927G>A (p.Arg976His)
|
rs753485651
|
|
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
|
|
|
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr)
|
rs1569519253
|
|
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
|
|
|
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
|
rs138652066
|
|
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
|
|
|
NM_001848.3(COL6A1):c.2973G>A (p.Thr991=)
|
|
|
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val)
|
rs1316734507
|
|
NM_001848.3(COL6A1):c.2976C>G (p.Ala992=)
|
|
|
NM_001848.3(COL6A1):c.2977G>A (p.Glu993Lys)
|
|
|
NM_001848.3(COL6A1):c.2985C>T (p.Asp995=)
|
rs759217203
|
|
NM_001848.3(COL6A1):c.2989G>T (p.Ala997Ser)
|
|
|
NM_001848.3(COL6A1):c.2995G>A (p.Gly999Ser)
|
|
|
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp)
|
rs1603595132
|
|
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys)
|
rs201456885
|
|
NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)
|
|
|
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln)
|
rs1180948133
|
|
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)
|
rs2077865473
|
|
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)
|
rs376999117
|
|
NM_001848.3(COL6A1):c.3014G>C (p.Arg1005Pro)
|
|
|
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
|
|
|
NM_001848.3(COL6A1):c.3042C>A (p.Arg1014=)
|
|
|
NM_001848.3(COL6A1):c.3042C>T (p.Arg1014=)
|
|
|
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs)
|
rs766289958
|
|
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
|
|
|
NM_001848.3(COL6A1):c.3060A>G (p.Thr1020=)
|
rs953326229
|
|
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
|
|
|
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.314G>A (p.Arg105His)
|
|
|
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu)
|
rs754591267
|
|
NM_001848.3(COL6A1):c.316A>G (p.Met106Val)
|
rs1365404018
|
|
NM_001848.3(COL6A1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
|
|
|
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn)
|
rs372627181
|
|
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
|
|
|
NM_001848.3(COL6A1):c.354C>T (p.Asp118=)
|
rs1569517713
|
|
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
|
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
NM_001848.3(COL6A1):c.36G>C (p.Leu12=)
|
rs2123459117
|
|
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn)
|
rs1603589594
|
|
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val)
|
rs1300015385
|
|
NM_001848.3(COL6A1):c.387C>A (p.Thr129=)
|
rs377140588
|
|
NM_001848.3(COL6A1):c.387C>T (p.Thr129=)
|
|
|
NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn)
|
rs1235398371
|
|
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
|
|
|
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr)
|
rs1454397058
|
|
NM_001848.3(COL6A1):c.411G>A (p.Leu137=)
|
|
|
NM_001848.3(COL6A1):c.417G>A (p.Gln139=)
|
|
|
NM_001848.3(COL6A1):c.424G>A (p.Val142Met)
|
rs144282452
|
|
NM_001848.3(COL6A1):c.428+10C>T
|
rs1437662111
|
|
NM_001848.3(COL6A1):c.428+11C>T
|
|
|
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
|
|
|
NM_001848.3(COL6A1):c.428+1G>A
|
rs1569517717
|
|
NM_001848.3(COL6A1):c.428+5G>A
|
rs1603589628
|
|
NM_001848.3(COL6A1):c.429-11C>T
|
|
|
NM_001848.3(COL6A1):c.429-13C>A
|
|
|
NM_001848.3(COL6A1):c.429-15C>T
|
|
|
NM_001848.3(COL6A1):c.429-17del
|
rs2123465809
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
NM_001848.3(COL6A1):c.429-19G>T
|
|
|
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
|
|
|
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val)
|
rs2077739763
|
|
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
|
|
|
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
|
|
|
NM_001848.3(COL6A1):c.472G>A (p.Asp158Asn)
|
|
|
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
|
rs1471465037
|
|
NM_001848.3(COL6A1):c.477G>T (p.Gly159=)
|
|
|
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
|
|
|
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)
|
rs980266782
|
|
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
|
|
|
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala)
|
rs1309872535
|
|
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)
|
rs747419878
|
|
NM_001848.3(COL6A1):c.513G>C (p.Gly171=)
|
rs1276849352
|
|
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
|
|
|
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val)
|
rs1385535913
|
|
NM_001848.3(COL6A1):c.525T>A (p.Ala175=)
|
rs761552446
|
|
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)
|
rs2077740453
|
|
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr)
|
rs1556424938
|
|
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
|
|
|
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala)
|
rs766184155
|
|
NM_001848.3(COL6A1):c.549C>A (p.Gly183=)
|
rs398123636
|
|
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
|
|
|
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
|
rs1377090546
|
|
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
|
|
|
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
|
|
|
NM_001848.3(COL6A1):c.564G>A (p.Ser188=)
|
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val)
|
rs1273238821
|
|
NM_001848.3(COL6A1):c.57G>T (p.Ala19=)
|
|
|
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
|
|
|
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr)
|
rs2077740811
|
|
NM_001848.3(COL6A1):c.588+12_588+13delinsTA
|
rs2123466169
|
|
NM_001848.3(COL6A1):c.588+12_588+13insAC
|
rs1556424960
|
|
NM_001848.3(COL6A1):c.588+16C>G
|
|
|
NM_001848.3(COL6A1):c.588+17_588+18insA
|
|
|
NM_001848.3(COL6A1):c.588+18C>T
|
|
|
NM_001848.3(COL6A1):c.588+18_588+19dup
|
rs111710378
|
|
NM_001848.3(COL6A1):c.588+19del
|
rs111710378
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
NM_001848.3(COL6A1):c.589-20A>C
|
|
|
NM_001848.3(COL6A1):c.589-3C>T
|
rs1288681930
|
|
NM_001848.3(COL6A1):c.589-8G>A
|
|
|
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
|
|
|
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)
|
rs1603589167
|
|
NM_001848.3(COL6A1):c.594G>C (p.Pro198=)
|
rs376592866
|
|
NM_001848.3(COL6A1):c.603C>T (p.Ser201=)
|
|
|
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
|
|
|
NM_001848.3(COL6A1):c.606C>T (p.Ile202=)
|
|
|
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
|
|
|
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
|
|
|
NM_001848.3(COL6A1):c.631C>G (p.Arg211Gly)
|
rs375217284
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
NM_001848.3(COL6A1):c.632G>A (p.Arg211His)
|
|
|
NM_001848.3(COL6A1):c.644C>T (p.Ala215Val)
|
|
|
NM_001848.3(COL6A1):c.64G>A (p.Glu22Lys)
|
rs1461577118
|
|
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)
|
rs780638665
|
|
NM_001848.3(COL6A1):c.678G>A (p.Glu226=)
|
rs1370178953
|
|
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
|
|
|
NM_001848.3(COL6A1):c.699C>T (p.Asp233=)
|
rs2123466761
|
|
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)
|
rs2077743440
|
|
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn)
|
rs2123466789
|
|
NM_001848.3(COL6A1):c.717+10C>T
|
|
|
NM_001848.3(COL6A1):c.717+9C>G
|
|
|
NM_001848.3(COL6A1):c.718-11dup
|
rs778494336
|
|
NM_001848.3(COL6A1):c.718-20G>A
|
|
|
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
|
|
|
NM_001848.3(COL6A1):c.720A>G (p.Lys240=)
|
rs147612667
|
|
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
|
|
|
NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)
|
|
|
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
|
|
|
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
|
|
|
NM_001848.3(COL6A1):c.732G>A (p.Glu244=)
|
|
|
NM_001848.3(COL6A1):c.738+1G>T
|
rs2077744287
|
|
NM_001848.3(COL6A1):c.738+24del
|
|
|
NM_001848.3(COL6A1):c.739-11del
|
rs573196191
|
|
NM_001848.3(COL6A1):c.739-13T>C
|
rs2123467487
|
|
NM_001848.3(COL6A1):c.739-2A>G
|
rs2123467538
|
|
NM_001848.3(COL6A1):c.739-5C>T
|
rs369946755
|
|
NM_001848.3(COL6A1):c.739-6C>G
|
rs755793406
|
|
NM_001848.3(COL6A1):c.739-7C>T
|
rs1603590124
|
|
NM_001848.3(COL6A1):c.741C>T (p.Cys247=)
|
|
|
NM_001848.3(COL6A1):c.748_805-704del
|
|
|
NM_001848.3(COL6A1):c.750C>T (p.Phe250=)
|
rs748153811
|
|
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
|
|
|
NM_001848.3(COL6A1):c.756C>T (p.Cys252=)
|
|
|
NM_001848.3(COL6A1):c.759+12C>G
|
|
|
NM_001848.3(COL6A1):c.759+15C>T
|
|
|
NM_001848.3(COL6A1):c.759+15del
|
|
|
NM_001848.3(COL6A1):c.760-18G>A
|
|
|
NM_001848.3(COL6A1):c.760-19C>T
|
|
|
NM_001848.3(COL6A1):c.760-3C>T
|
|
|
NM_001848.3(COL6A1):c.760-5T>G
|
rs1322851367
|
|
NM_001848.3(COL6A1):c.760-7C>T
|
rs2123467721
|
|
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
|
|
|
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro)
|
rs145473829
|
|
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr)
|
rs2077747487
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
|
|
|
NM_001848.3(COL6A1):c.804+14C>T
|
|
|
NM_001848.3(COL6A1):c.804+1G>A
|
rs1385646650
|
|
NM_001848.3(COL6A1):c.804+20C>T
|
|
|
NM_001848.3(COL6A1):c.804+8G>A
|
|
|
NM_001848.3(COL6A1):c.804+9T>C
|
rs2123467834
|
|
NM_001848.3(COL6A1):c.805-11T>C
|
|
|
NM_001848.3(COL6A1):c.805-2A>C
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>T
|
rs398123639
|
|
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)
|
rs2077759104
|
|
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)
|
rs1391624796
|
|
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)
|
rs1064793840
|
|
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg)
|
rs201093313
|
|
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)
|
rs1556425468
|
|
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
|
|
|
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
|
|
|
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)
|
rs267606746
|
|
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)
|
rs886041383
|
|
NM_001848.3(COL6A1):c.842_858+7del
|
rs2077759485
|
|
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del)
|
rs1556425474
|
|
NM_001848.3(COL6A1):c.849C>T (p.Ala283=)
|
rs1186770930
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.858+10T>C
|
rs2123470427
|
|
NM_001848.3(COL6A1):c.858+13C>G
|
|
|
NM_001848.3(COL6A1):c.858+13C>T
|
|
|
NM_001848.3(COL6A1):c.858+5G>A
|
rs2123470416
|
|
NM_001848.3(COL6A1):c.858+5G>T
|
|
|
NM_001848.3(COL6A1):c.858+7G>C
|
rs2123470420
|
|
NM_001848.3(COL6A1):c.858+8C>T
|
|
|
NM_001848.3(COL6A1):c.859-15C>A
|
rs759271765
|
|
NM_001848.3(COL6A1):c.859-15C>T
|
|
|
NM_001848.3(COL6A1):c.859-1G>C
|
rs1556425531
|
|
NM_001848.3(COL6A1):c.859-20_859-17del
|
rs766293322
|
|
NM_001848.3(COL6A1):c.859-20_859-18delinsTGA
|
rs386819390
|
|
NM_001848.3(COL6A1):c.859-20_859-19inv
|
|
|
NM_001848.3(COL6A1):c.859-2A>G
|
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
NM_001848.3(COL6A1):c.85G>A (p.Val29Met)
|
rs766057159
|
|
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
|
rs2077761954
|
|
NM_001848.3(COL6A1):c.861A>G (p.Gly287=)
|
|
|
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala)
|
rs777764932
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
|
|
|
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
|
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.888G>A (p.Gly296=)
|
rs2123470925
|
|
NM_001848.3(COL6A1):c.894G>C (p.Gln298His)
|
rs371989252
|
|
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)
|
rs2077762322
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
NM_001848.3(COL6A1):c.903+10_903+25del
|
|
|
NM_001848.3(COL6A1):c.903+12C>A
|
|
|
NM_001848.3(COL6A1):c.903+12C>G
|
|
|
NM_001848.3(COL6A1):c.903+12C>T
|
|
|
NM_001848.3(COL6A1):c.903+13C>A
|
rs199632006
|
|
NM_001848.3(COL6A1):c.903+13C>G
|
rs199632006
|
|
NM_001848.3(COL6A1):c.903+13_903+14delinsTA
|
rs2123470988
|
|
NM_001848.3(COL6A1):c.903+14del
|
rs757968177
|
|
NM_001848.3(COL6A1):c.903+18C>A
|
|
|
NM_001848.3(COL6A1):c.903+1G>T
|
rs1569518119
|
|
NM_001848.3(COL6A1):c.903+20T>C
|
rs2123470996
|
|
NM_001848.3(COL6A1):c.903+20T>G
|
|
|
NM_001848.3(COL6A1):c.903+2_903+10del
|
|
|
NM_001848.3(COL6A1):c.904-10G>A
|
rs794727027
|
|
NM_001848.3(COL6A1):c.904-14C>T
|
|
|
NM_001848.3(COL6A1):c.904-18C>T
|
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.904-39A>T
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.904-3T>G
|
|
|
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)
|
rs1556425566
|
|
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg)
|
rs1469287281
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
|
|
|
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val)
|
rs2077763346
|
|
NM_001848.3(COL6A1):c.924G>A (p.Gly308=)
|
rs374654116
|
|
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
|
|
|
NM_001848.3(COL6A1):c.928_930+23del
|
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+10G>A
|
rs772379034
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001848.3(COL6A1):c.930+19C>T
|
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.930+20G>A
|
|
|
NM_001848.3(COL6A1):c.930+20G>C
|
rs765683206
|
|
NM_001848.3(COL6A1):c.931-10G>A
|
|
|
NM_001848.3(COL6A1):c.931-17G>A
|
rs568147495
|
|
NM_001848.3(COL6A1):c.931-17G>T
|
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-4G>T
|
rs758332867
|
|
NM_001848.3(COL6A1):c.931-8C>G
|
|
|
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)
|
rs2123471915
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.934T>G (p.Ser312Ala)
|
rs771229905
|
|
NM_001848.3(COL6A1):c.93C>T (p.Phe31=)
|
rs753371577
|
|
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001848.3(COL6A1):c.957+10G>A
|
|
|
NM_001848.3(COL6A1):c.957+1G>A
|
rs886044535
|
|
NM_001848.3(COL6A1):c.957+1G>C
|
|
|
NM_001848.3(COL6A1):c.957+4A>T
|
|
|
NM_001848.3(COL6A1):c.957+6C>G
|
rs374926748
|
|
NM_001848.3(COL6A1):c.957G>A (p.Lys319=)
|
rs1057520625
|
|
NM_001848.3(COL6A1):c.957_957+7del
|
rs1556425687
|
|
NM_001848.3(COL6A1):c.958-11C>T
|
|
|
NM_001848.3(COL6A1):c.958-13T>G
|
rs1490319824
|
|
NM_001848.3(COL6A1):c.958-2A>G
|
rs1556425717
|
|
NM_001848.3(COL6A1):c.958-2_958-1del
|
rs2123472064
|
|
NM_001848.3(COL6A1):c.958-3_958-2del
|
|
|
NM_001848.3(COL6A1):c.958-5C>T
|
|
|
NM_001848.3(COL6A1):c.97+12C>G
|
rs2077709554
|
|
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del)
|
rs2123472068
|
|
NM_001848.3(COL6A1):c.973C>G (p.Arg325Gly)
|
rs764704372
|
|
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)
|
rs764704372
|
|
NM_001848.3(COL6A1):c.98-2_103del
|
rs1556423703
|
|
NM_001848.3(COL6A1):c.98-6G>A
|
rs886042599
|
|
NM_001848.3(COL6A1):c.987G>A (p.Gly329=)
|
|
|
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
|
|
|
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
|
|
|
NM_001848.3(COL6A1):c.9G>A (p.Ala3=)
|
rs369561233
|
|
NM_001849.3(COL6A2):c.-91_3071dup
|
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1000-10T>C
|
rs1036136617
|
|
NM_001849.4(COL6A2):c.1000-13C>T
|
|
|
NM_001849.4(COL6A2):c.1000-13_1030del
|
rs1555873353
|
|
NM_001849.4(COL6A2):c.1000-14C>T
|
|
|
NM_001849.4(COL6A2):c.1000-15C>T
|
rs902044548
|
|
NM_001849.4(COL6A2):c.1000-1G>T
|
rs1555873358
|
|
NM_001849.4(COL6A2):c.1000-2A>C
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1000-2A>G
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg)
|
rs2123631275
|
|
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
|
|
|
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
|
|
|
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=)
|
rs1568930411
|
|
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
|
|
|
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
|
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
|
|
|
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg)
|
rs2078490056
|
|
NM_001849.4(COL6A2):c.1046_1053+1del
|
|
|
NM_001849.4(COL6A2):c.1053+1G>A
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+2T>A
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1053+2T>G
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1053+3A>T
|
rs1555873388
|
|
NM_001849.4(COL6A2):c.1053+4dup
|
|
|
NM_001849.4(COL6A2):c.1054-12C>T
|
|
|
NM_001849.4(COL6A2):c.1054-2A>G
|
rs886044023
|
|
NM_001849.4(COL6A2):c.1054-7C>G
|
rs762738666
|
|
NM_001849.4(COL6A2):c.1059del (p.Asp354fs)
|
rs1555873508
|
|
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His)
|
rs188184732
|
|
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
|
|
|
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
|
|
|
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)
|
rs199929757
|
|
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs)
|
rs2078499771
|
|
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser)
|
rs1555873523
|
|
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val)
|
rs2078500027
|
|
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)
|
rs374673302
|
|
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp)
|
rs374673302
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
|
|
|
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
|
|
|
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val)
|
rs1601229481
|
|
NM_001849.4(COL6A2):c.1116+6T>G
|
|
|
NM_001849.4(COL6A2):c.1117-4C>T
|
rs2123635658
|
|
NM_001849.4(COL6A2):c.1117-8C>T
|
rs1601231143
|
|
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=)
|
rs760861317
|
|
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
|
|
|
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg)
|
rs753834270
|
|
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1])
|
rs2123635719
|
|
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser)
|
rs2078399168
|
|
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
|
|
|
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
|
|
|
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
|
|
|
NM_001849.4(COL6A2):c.115+12C>T
|
|
|
NM_001849.4(COL6A2):c.115+13G>A
|
|
|
NM_001849.4(COL6A2):c.115+16G>A
|
|
|
NM_001849.4(COL6A2):c.115+17G>A
|
|
|
NM_001849.4(COL6A2):c.115+17del
|
|
|
NM_001849.4(COL6A2):c.115+19C>T
|
|
|
NM_001849.4(COL6A2):c.115+19_115+25del
|
rs757969178
|
|
NM_001849.4(COL6A2):c.115+6A>G
|
rs886042882
|
|
NM_001849.4(COL6A2):c.116-14C>G
|
|
|
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
|
|
|
NM_001849.4(COL6A2):c.1179+1G>A
|
rs2078514224
|
|
NM_001849.4(COL6A2):c.1179+20C>T
|
|
|
NM_001849.4(COL6A2):c.1180-10C>G
|
rs777782503
|
|
NM_001849.4(COL6A2):c.1180-15C>T
|
|
|
NM_001849.4(COL6A2):c.1180-16T>C
|
rs1355356965
|
|
NM_001849.4(COL6A2):c.1180-1G>A
|
|
|
NM_001849.4(COL6A2):c.1180-2A>G
|
rs1601232289
|
|
NM_001849.4(COL6A2):c.1180-5_1180-3del
|
rs774369631
|
|
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala)
|
rs756966358
|
|
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
|
|
|
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
|
|
|
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val)
|
rs1555873827
|
|
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
|
|
|
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
|
|
|
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=)
|
rs558981930
|
|
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
|
|
|
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg)
|
rs1568931875
|
|
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
|
|
|
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
|
|
|
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly)
|
rs1248584370
|
|
NM_001849.4(COL6A2):c.1249del (p.Arg417fs)
|
rs2078521344
|
|
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
|
|
|
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
|
|
|
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu)
|
rs371383704
|
|
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg)
|
rs2123637568
|
|
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu)
|
rs761030439
|
|
NM_001849.4(COL6A2):c.1269+14G>A
|
|
|
NM_001849.4(COL6A2):c.1269+17C>A
|
|
|
NM_001849.4(COL6A2):c.1269+7C>T
|
rs751071208
|
|
NM_001849.4(COL6A2):c.1269+9C>T
|
|
|
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=)
|
rs144136807
|
|
NM_001849.4(COL6A2):c.1270-8C>A
|
rs1601233823
|
|
NM_001849.4(COL6A2):c.1270-8C>T
|
|
|
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys)
|
rs761330909
|
|
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
|
|
|
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=)
|
rs1601233959
|
|
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)
|
rs752730608
|
|
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
|
|
|
NM_001849.4(COL6A2):c.129C>T (p.Cys43=)
|
rs755324001
|
|
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
|
|
|
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=)
|
rs1230708321
|
|
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
|
|
|
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
|
|
|
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_001849.4(COL6A2):c.132C>T (p.Pro44=)
|
rs2123614144
|
|
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del)
|
rs2078532600
|
|
NM_001849.4(COL6A2):c.1332+11G>T
|
|
|
NM_001849.4(COL6A2):c.1332+20C>T
|
rs1222615509
|
|
NM_001849.4(COL6A2):c.1332+2T>C
|
rs2078532687
|
|
NM_001849.4(COL6A2):c.1333-12C>T
|
|
|
NM_001849.4(COL6A2):c.1333-5C>T
|
rs2078547153
|
|
NM_001849.4(COL6A2):c.1333-9_1333-5del
|
rs1193152104
|
|
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.1336G>T (p.Asp446Tyr)
|
|
|
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
|
|
|
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
|
|
|
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser)
|
rs1269914621
|
|
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
|
|
|
NM_001849.4(COL6A2):c.1375G>A (p.Val459Ile)
|
|
|
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
|
|
|
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
|
|
|
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=)
|
rs1601235960
|
|
NM_001849.4(COL6A2):c.1395+20_1395+59dup
|
rs1363017776
|
|
NM_001849.4(COL6A2):c.1395+5G>C
|
rs1373123496
|
|
NM_001849.4(COL6A2):c.1395+7G>A
|
|
|
NM_001849.4(COL6A2):c.1395+7del
|
|
|
NM_001849.4(COL6A2):c.1395+9_1395+38del
|
|
|
NM_001849.4(COL6A2):c.1396-20A>C
|
rs1398193069
|
|
NM_001849.4(COL6A2):c.1396-26_1396-10del
|
rs1601237036
|
|
NM_001849.4(COL6A2):c.1396-4C>A
|
|
|
NM_001849.4(COL6A2):c.1396-8T>C
|
|
|
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=)
|
rs758072176
|
|
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn)
|
rs1464567484
|
|
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
|
|
|
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu)
|
rs746541506
|
|
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala)
|
rs2123614177
|
|
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His)
|
rs1472257957
|
|
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp)
|
rs2123645059
|
|
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
|
|
|
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=)
|
rs745867374
|
|
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
|
|
|
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
|
|
|
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
|
|
|
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=)
|
rs528087300
|
|
NM_001849.4(COL6A2):c.1458+3_1458+6del
|
rs765084926
|
|
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His)
|
rs2078559618
|
|
NM_001849.4(COL6A2):c.1459-11C>T
|
|
|
NM_001849.4(COL6A2):c.1459-13C>G
|
|
|
NM_001849.4(COL6A2):c.1459-17T>C
|
rs2123646541
|
|
NM_001849.4(COL6A2):c.1459-2A>G
|
rs749974929
|
|
NM_001849.4(COL6A2):c.1459-2_1459-1del
|
|
|
NM_001849.4(COL6A2):c.1459-5C>G
|
rs1362389378
|
|
NM_001849.4(COL6A2):c.1459-5del
|
|
|
NM_001849.4(COL6A2):c.1459-6C>T
|
rs2078566233
|
|
NM_001849.4(COL6A2):c.1459-7C>G
|
|
|
NM_001849.4(COL6A2):c.1459-8G>A
|
rs546206539
|
|
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly)
|
rs727502829
|
|
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro)
|
rs61735828
|
|
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser)
|
rs778917725
|
|
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)
|
rs727502826
|
|
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
|
|
|
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
|
|
|
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=)
|
rs2123646795
|
|
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
|
|
|
NM_001849.4(COL6A2):c.150G>T (p.Val50=)
|
rs2123614200
|
|
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
|
|
|
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
|
|
|
NM_001849.4(COL6A2):c.1521+10C>T
|
rs753385303
|
|
NM_001849.4(COL6A2):c.1521+19G>A
|
|
|
NM_001849.4(COL6A2):c.1521+4C>T
|
rs886043036
|
|
NM_001849.4(COL6A2):c.1521+9C>T
|
|
|
NM_001849.4(COL6A2):c.1522-12G>C
|
rs770511180
|
|
NM_001849.4(COL6A2):c.1522-13C>T
|
|
|
NM_001849.4(COL6A2):c.1522-17T>C
|
|
|
NM_001849.4(COL6A2):c.1522-1G>C
|
|
|
NM_001849.4(COL6A2):c.1522-20G>C
|
|
|
NM_001849.4(COL6A2):c.1522-3C>T
|
|
|
NM_001849.4(COL6A2):c.1522-8T>C
|
|
|
NM_001849.4(COL6A2):c.1522-9C>A
|
rs371576207
|
|
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=)
|
rs199842179
|
|
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
|
|
|
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
|
|
|
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala)
|
rs756315481
|
|
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
|
|
|
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs)
|
rs2078576503
|
|
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His)
|
rs2078576778
|
|
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
|
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly)
|
rs769563817
|
|
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser)
|
rs2078577021
|
|
NM_001849.4(COL6A2):c.1572+13C>G
|
rs2078577323
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
NM_001849.4(COL6A2):c.1572+5G>A
|
|
|
NM_001849.4(COL6A2):c.1573-13G>A
|
rs771931533
|
|
NM_001849.4(COL6A2):c.1573-14T>C
|
rs2078581898
|
|
NM_001849.4(COL6A2):c.1573-20G>A
|
|
|
NM_001849.4(COL6A2):c.1573-8C>T
|
|
|
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
|
|
|
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
|
|
|
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=)
|
rs758975198
|
|
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=)
|
rs1394972929
|
|
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
|
|
|
NM_001849.4(COL6A2):c.159C>G (p.Thr53=)
|
rs2123614218
|
|
NM_001849.4(COL6A2):c.1608+13C>G
|
|
|
NM_001849.4(COL6A2):c.1608+17G>C
|
|
|
NM_001849.4(COL6A2):c.1609-19C>T
|
|
|
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
|
|
|
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
|
|
|
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
|
|
|
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val)
|
rs2123650884
|
|
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys)
|
rs2123650926
|
|
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del)
|
rs1555874762
|
|
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
|
|
|
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
|
|
|
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
|
|
|
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.1657G>A (p.Glu553Lys)
|
|
|
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
|
|
|
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=)
|
|
|
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser)
|
rs2078589816
|
|
NM_001849.4(COL6A2):c.1671+10A>C
|
rs915786
|
|
NM_001849.4(COL6A2):c.1671+12C>G
|
|
|
NM_001849.4(COL6A2):c.1671+1G>T
|
|
|
NM_001849.4(COL6A2):c.1671+4_1671+7del
|
rs2078589929
|
|
NM_001849.4(COL6A2):c.1671+7G>A
|
|
|
NM_001849.4(COL6A2):c.1671+9_1671+10inv
|
|
|
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=)
|
rs2078589880
|
|
NM_001849.4(COL6A2):c.1672-12G>C
|
|
|
NM_001849.4(COL6A2):c.1672-15_1672-13del
|
|
|
NM_001849.4(COL6A2):c.1672-20C>T
|
|
|
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)
|
rs1555871311
|
|
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
|
|
|
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr)
|
rs1035008109
|
|
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
|
|
|
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
|
|
|
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser)
|
rs1172190604
|
|
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
|
|
|
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
|
|
|
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg)
|
rs2078631679
|
|
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
|
|
|
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser)
|
rs2078397289
|
|
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu)
|
rs2123658612
|
|
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=)
|
rs2123658659
|
|
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
|
|
|
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
|
|
|
NM_001849.4(COL6A2):c.1734+16G>A
|
|
|
NM_001849.4(COL6A2):c.1734+9G>A
|
|
|
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT
|
rs2123659310
|
|
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)
|
rs764878153
|
|
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
|
|
|
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
|
|
|
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr)
|
rs779979272
|
|
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
|
|
|
NM_001849.4(COL6A2):c.1751_1770+24dup
|
rs2078635959
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu)
|
rs1568938716
|
|
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
|
|
|
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys)
|
rs142709940
|
|
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+12A>G
|
|
|
NM_001849.4(COL6A2):c.1770+13T>C
|
|
|
NM_001849.4(COL6A2):c.1770+15G>C
|
|
|
NM_001849.4(COL6A2):c.1770+1G>A
|
rs752803039
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1770+2T>C
|
|
|
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
|
|
|
NM_001849.4(COL6A2):c.1771-12T>C
|
|
|
NM_001849.4(COL6A2):c.1771-16G>A
|
|
|
NM_001849.4(COL6A2):c.1771-19C>T
|
|
|
NM_001849.4(COL6A2):c.1771-20G>C
|
|
|
NM_001849.4(COL6A2):c.1771-9G>A
|
|
|
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
|
|
|
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
|
|
|
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=)
|
rs370858447
|
|
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro)
|
rs147892526
|
|
NM_001849.4(COL6A2):c.1816+11G>A
|
|
|
NM_001849.4(COL6A2):c.1816+12C>T
|
|
|
NM_001849.4(COL6A2):c.1816+17G>A
|
|
|
NM_001849.4(COL6A2):c.1816+18_1816+30del
|
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
NM_001849.4(COL6A2):c.1816+19_1816+28del
|
|
|
NM_001849.4(COL6A2):c.1816+20A>C
|
|
|
NM_001849.4(COL6A2):c.1816+3G>A
|
|
|
NM_001849.4(COL6A2):c.1816+6G>A
|
|
|
NM_001849.4(COL6A2):c.1816+9C>A
|
rs1456625954
|
|
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn)
|
rs747602311
|
|
NM_001849.4(COL6A2):c.1817-16C>G
|
|
|
NM_001849.4(COL6A2):c.1817-18A>C
|
|
|
NM_001849.4(COL6A2):c.1817-19G>A
|
rs2123661488
|
|
NM_001849.4(COL6A2):c.1817-2A>G
|
rs111697581
|
|
NM_001849.4(COL6A2):c.1817-2dup
|
|
|
NM_001849.4(COL6A2):c.1817-3C>A
|
rs112645828
|
|
NM_001849.4(COL6A2):c.1817-3C>T
|
rs112645828
|
|
NM_001849.4(COL6A2):c.1817-3_1817-2del
|
rs1491048605
|
|
NM_001849.4(COL6A2):c.1817-3del
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-4C>A
|
|
|
NM_001849.4(COL6A2):c.1817-4C>T
|
rs373659176
|
|
NM_001849.4(COL6A2):c.1817-4_1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-9C>T
|
rs766915366
|
|
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=)
|
rs1451931496
|
|
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
|
|
|
NM_001849.4(COL6A2):c.1837G>A (p.Ala613Thr)
|
rs146949791
|
|
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
|
|
|
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
|
|
|
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=)
|
rs908989305
|
|
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu)
|
rs746193653
|
|
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu)
|
rs746193653
|
|
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
|
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn)
|
rs2078648587
|
|
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
|
|
|
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
|
|
|
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
|
|
|
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=)
|
|
|
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr)
|
rs2123662036
|
|
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
|
|
|
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del)
|
rs1568939674
|
|
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala)
|
rs141919484
|
|
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly)
|
rs141919484
|
|
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
|
|
|
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=)
|
rs1472678084
|
|
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)
|
rs776676512
|
|
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=)
|
rs1458485829
|
|
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
|
|
|
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
|
|
|
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
|
|
|
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)
|
rs547589437
|
|
NM_001849.4(COL6A2):c.1969+10G>T
|
rs201259184
|
|
NM_001849.4(COL6A2):c.1969+11C>T
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+17dup
|
rs760398644
|
|
NM_001849.4(COL6A2):c.1969+12_1969+38dup
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+48del
|
rs2123662331
|
|
NM_001849.4(COL6A2):c.1969+12del
|
|
|
NM_001849.4(COL6A2):c.1969+17C>G
|
rs539735984
|
|
NM_001849.4(COL6A2):c.1969+19G>A
|
|
|
NM_001849.4(COL6A2):c.1969+1G>T
|
|
|
NM_001849.4(COL6A2):c.1969+20G>C
|
|
|
NM_001849.4(COL6A2):c.1969+20G>T
|
|
|
NM_001849.4(COL6A2):c.1969+4A>G
|
rs775997945
|
|
NM_001849.4(COL6A2):c.1969+7G>A
|
|
|
NM_001849.4(COL6A2):c.1970-12_1970-9dup
|
|
|
NM_001849.4(COL6A2):c.1970-14C>G
|
|
|
NM_001849.4(COL6A2):c.1970-14C>T
|
rs749228434
|
|
NM_001849.4(COL6A2):c.1970-3C>T
|
rs201879417
|
|
NM_001849.4(COL6A2):c.1970-4G>T
|
|
|
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
|
|
|
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys)
|
rs727502830
|
|
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
|
|
|
NM_001849.4(COL6A2):c.1980G>T (p.Val660=)
|
rs201427728
|
|
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
|
|
|
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
|
|
|
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
|
|
|
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met)
|
rs2123663062
|
|
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
|
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe)
|
rs2078406730
|
|
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg)
|
rs1245904841
|
|
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)
|
rs138948335
|
|
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=)
|
rs369568238
|
|
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn)
|
rs886042884
|
|
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
|
|
|
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
|
|
|
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
|
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
|
|
|
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)
|
rs1293736497
|
|
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
|
|
|
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)
|
rs1601249990
|
|
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
|
|
|
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
|
|
|
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His)
|
rs376527297
|
|
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
|
|
|
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe)
|
rs1258904789
|
|
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp)
|
rs564873527
|
|
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
|
|
|
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
|
|
|
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
|
|
|
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del)
|
rs2078657129
|
|
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
|
|
|
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln)
|
rs377376395
|
|
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
|
|
|
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)
|
rs1085307668
|
|
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
|
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser)
|
rs2123663616
|
|
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)
|
rs794727418
|
|
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
|
|
|
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro)
|
rs794727417
|
|
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro)
|
rs2123663738
|
|
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
|
|
|
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
|
|
|
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
|
|
|
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.2132A>T (p.Tyr711Phe)
|
|
|
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr)
|
rs375608173
|
|
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
|
|
|
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
|
|
|
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
|
|
|
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
|
|
|
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met)
|
rs2123663867
|
|
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
|
|
|
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
|
|
|
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
|
|
|
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His)
|
rs145450812
|
|
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=)
|
rs2123663974
|
|
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu)
|
rs1555875749
|
|
NM_001849.4(COL6A2):c.2175G>A (p.Val725=)
|
rs2123663986
|
|
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=)
|
rs1334569870
|
|
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser)
|
rs1555875759
|
|
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
|
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.21C>T (p.Ser7=)
|
rs760481395
|
|
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly)
|
rs2078660025
|
|
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
|
|
|
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr)
|
rs2123664136
|
|
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp)
|
rs2123664140
|
|
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
|
|
|
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
|
|
|
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
|
|
|
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
|
|
|
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
|
|
|
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=)
|
rs775259194
|
|
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=)
|
rs962884368
|
|
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=)
|
rs140643748
|
|
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
|
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
|
|
|
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile)
|
rs886042625
|
|
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
|
|
|
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
|
|
|
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
|
|
|
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
|
|
|
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
|
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
|
|
|
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
|
|
|
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
|
|
|
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His)
|
rs2078662932
|
|
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser)
|
rs1601251344
|
|
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
|
|
|
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu)
|
rs764165623
|
|
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
|
|
|
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=)
|
rs757806161
|
|
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)
|
rs2123664803
|
|
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
|
|
|
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met)
|
rs1194893303
|
|
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.2360C>T (p.Thr787Met)
|
|
|
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
|
|
|
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
|
|
|
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=)
|
rs775201159
|
|
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
|
|
|
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn)
|
rs1273249543
|
|
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro)
|
rs1568940864
|
|
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del)
|
rs747378168
|
|
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn)
|
rs1312736604
|
|
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
|
|
|
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr)
|
rs749043206
|
|
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
|
|
|
NM_001849.4(COL6A2):c.2422+17G>A
|
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2422+8T>C
|
rs1220569382
|
|
NM_001849.4(COL6A2):c.2423-11CT[2]
|
rs756221937
|
|
NM_001849.4(COL6A2):c.2423-12C>T
|
|
|
NM_001849.4(COL6A2):c.2423-17T>C
|
|
|
NM_001849.4(COL6A2):c.2423-18CT[2]
|
rs2123666734
|
|
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
|
|
|
NM_001849.4(COL6A2):c.2423-19C>T
|
|
|
NM_001849.4(COL6A2):c.2423-3C>T
|
|
|
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=)
|
rs2078672055
|
|
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=)
|
rs2123667105
|
|
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
|
|
|
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
|
|
|
NM_001849.4(COL6A2):c.2461+11G>C
|
|
|
NM_001849.4(COL6A2):c.2461+15C>T
|
rs1057002808
|
|
NM_001849.4(COL6A2):c.2461+9G>A
|
rs2078672583
|
|
NM_001849.4(COL6A2):c.2462-20G>C
|
|
|
NM_001849.4(COL6A2):c.2462-20G>T
|
|
|
NM_001849.4(COL6A2):c.2462-3C>T
|
rs766469768
|
|
NM_001849.4(COL6A2):c.2462-5dup
|
rs797044699
|
|
NM_001849.4(COL6A2):c.2462-8C>T
|
rs1419954494
|
|
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
|
|
|
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala)
|
rs1259128571
|
|
NM_001849.4(COL6A2):c.2472G>A (p.Val824=)
|
rs1484313723
|
|
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr)
|
rs778134390
|
|
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter)
|
rs2123454401
|
|
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro)
|
rs2078765932
|
|
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg)
|
rs2078765932
|
|
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
|
|
|
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
|
|
|
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs)
|
rs2123454477
|
|
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=)
|
rs369040271
|
|
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=)
|
rs369040271
|
|
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
|
|
|
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
|
|
|
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro)
|
rs1568947214
|
|
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
|
|
|
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=)
|
rs748054346
|
|
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val)
|
rs2078767000
|
|
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
|
|
|
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly)
|
rs759689002
|
|
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs)
|
rs2123454645
|
|
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala)
|
rs886044689
|
|
NM_001849.4(COL6A2):c.2568G>A (p.Val856=)
|
rs2123454687
|
|
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla)
|
rs753952104
|
|
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
|
|
|
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)
|
rs1555877252
|
|
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
|
|
|
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
|
|
|
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
|
|
|
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
|
|
|
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs)
|
rs2123454751
|
|
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys)
|
rs200488881
|
|
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=)
|
rs144484744
|
|
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.2609A>G (p.Asp870Gly)
|
|
|
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=)
|
rs147044688
|
|
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)
|
rs369396198
|
|
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
|
|
|
NM_001849.4(COL6A2):c.2631G>A (p.Val877=)
|
|
|
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=)
|
rs1339393899
|
|
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
|
|
|
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
|
|
|
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
|
|
|
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=)
|
rs908318849
|
|
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
|
|
|
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs)
|
rs2123455043
|
|
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
|
|
|
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg)
|
rs770956606
|
|
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
|
|
|
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
|
|
|
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
|
|
|
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.2689_2691del (p.Asn897del)
|
|
|
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
|
|
|
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
|
|
|
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
|
|
|
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
|
|
|
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
|
|
|
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.2743T>C (p.Ser915Pro)
|
rs1290912034
|
|
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
|
|
|
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr)
|
rs2123455277
|
|
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
|
|
|
NM_001849.4(COL6A2):c.2751G>A (p.Val917=)
|
rs111341650
|
|
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)
|
rs398123650
|
|
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
|
|
|
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg)
|
rs2123455354
|
|
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln)
|
rs140419176
|
|
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln)
|
rs140419176
|
|
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu)
|
rs1426096612
|
|
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs)
|
rs745716104
|
|
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
|
|
|
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys)
|
rs1321329142
|
|
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu)
|
rs374384263
|
|
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
|
|
|
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=)
|
rs200652329
|
|
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
|
|
|
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=)
|
rs769894173
|
|
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=)
|
rs768497480
|
|
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=)
|
rs768497480
|
|
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
|
|
|
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del)
|
rs2123455541
|
|
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu)
|
rs2123455553
|
|
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg)
|
rs367980010
|
|
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup)
|
rs775193167
|
|
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg)
|
rs147670858
|
|
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met)
|
rs147670858
|
|
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=)
|
rs138074469
|
|
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
|
|
|
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
|
|
|
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
|
|
|
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
|
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp)
|
rs1274304291
|
|
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro)
|
rs2123455695
|
|
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
|
|
|
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn)
|
rs373184224
|
|
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala)
|
rs771847588
|
|
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)
|
rs61735833
|
|
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser)
|
rs201188174
|
|
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
|
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup)
|
rs1568948073
|
|
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met)
|
rs763443381
|
|
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu)
|
rs763443381
|
|
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
|
|
|
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro)
|
rs754429992
|
|
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
|
|
|
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu)
|
rs145959270
|
|
NM_001849.4(COL6A2):c.291C>T (p.Gly97=)
|
rs1007921670
|
|
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=)
|
rs2078774154
|
|
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
|
|
|
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
|
|
|
NM_001849.4(COL6A2):c.2940G>A (p.Val980=)
|
rs886044694
|
|
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
|
|
|
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup)
|
rs762259160
|
|
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=)
|
rs149845431
|
|
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val)
|
rs781544781
|
|
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
|
|
|
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
|
|
|
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
|
|
|
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
|
|
|
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His)
|
rs2123456038
|
|
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=)
|
rs6652
|
|
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
|
|
|
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs)
|
rs1555877364
|
|
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
|
|
|
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu)
|
rs1555877365
|
|
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=)
|
rs1555877365
|
|
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)
|
rs142296092
|
|
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.29T>G (p.Leu10Arg)
|
|
|
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
|
|
|
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn)
|
rs1601270126
|
|
NM_001849.4(COL6A2):c.300C>G (p.His100Gln)
|
rs765941470
|
|
NM_001849.4(COL6A2):c.300C>T (p.His100=)
|
rs765941470
|
|
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=)
|
rs2123456173
|
|
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
|
|
|
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
|
|
|
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del)
|
rs2078776370
|
|
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
|
|
|
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)
|
rs762516507
|
|
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
|
|
|
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys)
|
rs2078776827
|
|
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
|
|
|
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
|
|
|
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
|
|
|
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
|
|
|
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
|
|
|
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg)
|
rs1365013453
|
|
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.393C>T (p.Gly131=)
|
|
|
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
|
|
|
NM_001849.4(COL6A2):c.399C>T (p.Phe133=)
|
rs547695695
|
|
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile)
|
rs2078397134
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr)
|
rs982087527
|
|
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly)
|
rs749711324
|
|
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr)
|
rs1568925911
|
|
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
|
|
|
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met)
|
rs866311790
|
|
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
|
|
|
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
|
|
|
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
|
|
|
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
|
|
|
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn)
|
rs1216448596
|
|
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del)
|
rs2078413886
|
|
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
|
|
|
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
|
|
|
NM_001849.4(COL6A2):c.513G>A (p.Gly171=)
|
rs1291272464
|
|
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
|
|
|
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
|
|
|
NM_001849.4(COL6A2):c.543_735+396del
|
rs2078415602
|
|
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu)
|
rs376291264
|
|
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
|
|
|
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)
|
rs765361834
|
|
NM_001849.4(COL6A2):c.582G>C (p.Gln194His)
|
rs1601218622
|
|
NM_001849.4(COL6A2):c.586C>T (p.Leu196=)
|
rs1222208626
|
|
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
|
|
|
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr)
|
rs2078398153
|
|
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
|
|
|
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
|
|
|
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
|
|
|
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.626A>T (p.His209Leu)
|
rs1413478268
|
|
NM_001849.4(COL6A2):c.627C>G (p.His209Gln)
|
rs545218705
|
|
NM_001849.4(COL6A2):c.627C>T (p.His209=)
|
rs545218705
|
|
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs)
|
rs1375040481
|
|
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)
|
rs563449281
|
|
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
|
|
|
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met)
|
rs773058625
|
|
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro)
|
rs1208218678
|
|
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
|
|
|
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe)
|
rs2078418524
|
|
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
|
|
|
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del)
|
rs775693562
|
|
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
|
|
|
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
|
|
|
NM_001849.4(COL6A2):c.679G>C (p.Asp227His)
|
rs35881321
|
|
NM_001849.4(COL6A2):c.702C>T (p.Ile234=)
|
rs1369161493
|
|
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
|
|
|
NM_001849.4(COL6A2):c.714+18G>A
|
|
|
NM_001849.4(COL6A2):c.714+1G>C
|
rs2078419667
|
|
NM_001849.4(COL6A2):c.714+8G>A
|
rs1489436620
|
|
NM_001849.4(COL6A2):c.714+8G>T
|
|
|
NM_001849.4(COL6A2):c.715-14T>C
|
|
|
NM_001849.4(COL6A2):c.715-18T>C
|
|
|
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
|
|
|
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
|
|
|
NM_001849.4(COL6A2):c.735+6T>C
|
rs2078423797
|
|
NM_001849.4(COL6A2):c.735+9_784del
|
|
|
NM_001849.4(COL6A2):c.736-1G>A
|
rs1601221868
|
|
NM_001849.4(COL6A2):c.736-1G>C
|
rs1601221868
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001849.4(COL6A2):c.736-8C>T
|
|
|
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile)
|
rs2123612816
|
|
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
|
|
|
NM_001849.4(COL6A2):c.745G>A (p.Val249Met)
|
rs1454103225
|
|
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
|
|
|
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
|
|
|
NM_001849.4(COL6A2):c.75C>T (p.Val25=)
|
rs2078398447
|
|
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
|
|
|
NM_001849.4(COL6A2):c.780C>T (p.Pro260=)
|
rs1021304559
|
|
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys)
|
rs2123620765
|
|
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)
|
rs2078438903
|
|
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln)
|
rs753370790
|
|
NM_001849.4(COL6A2):c.801+1G>A
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+1G>T
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+2T>G
|
|
|
NM_001849.4(COL6A2):c.801+2dup
|
rs2123620848
|
|
NM_001849.4(COL6A2):c.801G>A (p.Lys267=)
|
rs2078439012
|
|
NM_001849.4(COL6A2):c.802-2A>G
|
rs886044399
|
|
NM_001849.4(COL6A2):c.802-9T>C
|
|
|
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)
|
rs2123625485
|
|
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg)
|
rs2123625485
|
|
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)
|
rs121912940
|
|
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val)
|
rs794727788
|
|
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
|
rs2078462673
|
|
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp)
|
rs2123625569
|
|
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
|
|
|
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
|
|
|
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
|
|
|
NM_001849.4(COL6A2):c.830del (p.Gly277fs)
|
rs1555872819
|
|
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
|
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)
|
rs1568928804
|
|
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg)
|
rs778546141
|
|
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)
|
rs267606748
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
|
|
|
NM_001849.4(COL6A2):c.855+16C>T
|
|
|
NM_001849.4(COL6A2):c.855+1G>A
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+4_855+7del
|
rs2123625716
|
|
NM_001849.4(COL6A2):c.856-15C>T
|
|
|
NM_001849.4(COL6A2):c.856-1G>T
|
|
|
NM_001849.4(COL6A2):c.856-24_856-10del
|
|
|
NM_001849.4(COL6A2):c.856-2A>G
|
rs886044466
|
|
NM_001849.4(COL6A2):c.856-9C>T
|
|
|
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg)
|
rs2123626018
|
|
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
|
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
|
|
|
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
|
|
|
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)
|
rs727502828
|
|
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg)
|
rs727502828
|
|
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
|
|
|
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)
|
rs794727855
|
|
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr)
|
rs1568928972
|
|
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)
|
rs1555872873
|
|
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)
|
rs2123626138
|
|
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val)
|
rs2123626138
|
|
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg)
|
rs797045478
|
|
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
|
|
|
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu)
|
rs2123626180
|
|
NM_001849.4(COL6A2):c.900+1G>A
|
rs886044261
|
|
NM_001849.4(COL6A2):c.900+1G>T
|
|
|
NM_001849.4(COL6A2):c.900+5G>A
|
|
|
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
|
|
|
NM_001849.4(COL6A2):c.901-10C>T
|
rs754039292
|
|
NM_001849.4(COL6A2):c.901-11_901-9del
|
|
|
NM_001849.4(COL6A2):c.901-20C>T
|
|
|
NM_001849.4(COL6A2):c.901-20CT[2]
|
rs563354608
|
|
NM_001849.4(COL6A2):c.901-6_903del
|
rs2123627113
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)
|
rs727502832
|
|
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu)
|
rs1472672400
|
|
NM_001849.4(COL6A2):c.927+12G>T
|
|
|
NM_001849.4(COL6A2):c.927+14C>T
|
|
|
NM_001849.4(COL6A2):c.927+16T>C
|
rs2123627287
|
|
NM_001849.4(COL6A2):c.927+5G>A
|
|
|
NM_001849.4(COL6A2):c.927+5G>C
|
|
|
NM_001849.4(COL6A2):c.927+9_927+21del
|
rs2123627262
|
|
NM_001849.4(COL6A2):c.928-11C>T
|
|
|
NM_001849.4(COL6A2):c.928-11del
|
rs2123628057
|
|
NM_001849.4(COL6A2):c.928-18G>A
|
|
|
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
|
|
|
NM_001849.4(COL6A2):c.948T>C (p.Gly316=)
|
rs764665426
|
|
NM_001849.4(COL6A2):c.954+14G>A
|
rs2123628304
|
|
NM_001849.4(COL6A2):c.954+1G>C
|
rs2123628251
|
|
NM_001849.4(COL6A2):c.954+3A>G
|
rs2123628260
|
|
NM_001849.4(COL6A2):c.954+8G>A
|
rs1377719373
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.955-15T>G
|
|
|
NM_001849.4(COL6A2):c.955-19C>T
|
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-1G>C
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-2del
|
rs2078477419
|
|
NM_001849.4(COL6A2):c.955-3_955-1delinsAA
|
rs1568929639
|
|
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val)
|
rs1444127463
|
|
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
|
|
|
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
|
|
|
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
|
|
|
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
|
|
|
NM_001849.4(COL6A2):c.998del (p.Lys333fs)
|
rs2123628814
|
|
NM_001849.4(COL6A2):c.999+12C>T
|
|
|
NM_001849.4(COL6A2):c.999+15G>C
|
|
|
NM_001849.4(COL6A2):c.999+18C>T
|
|
|
NM_001849.4(COL6A2):c.999+6G>A
|
|
|
NM_001849.4(COL6A2):c.999+9_1053+32del
|
rs2078478648
|
|
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA
|
rs2123628848
|
|
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
|
|
|
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn)
|
rs2106378691
|
|
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys)
|
|
|
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)
|
rs140510298
|
|
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
|
|
|
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=)
|
rs886044426
|
|
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
|
|
|
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu)
|
rs2106378611
|
|
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)
|
rs886044010
|
|
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
|
|
|
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
|
|
|
NM_004369.4(COL6A3):c.108G>A (p.Ala36=)
|
rs374055173
|
|
NM_004369.4(COL6A3):c.108G>T (p.Ala36=)
|
rs374055173
|
|
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=)
|
rs535498742
|
|
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile)
|
rs2106378544
|
|
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val)
|
|
|
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=)
|
|
|
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=)
|
rs2106378535
|
|
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=)
|
|
|
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu)
|
rs189772397
|
|
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
|
|
|
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly)
|
rs2106388893
|
|
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
|
|
|
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
|
|
|
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=)
|
|
|
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn)
|
rs372071064
|
|
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly)
|
rs1051157564
|
|
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val)
|
|
|
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del)
|
rs886042334
|
|
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe)
|
rs2078180823
|
|
NM_004369.4(COL6A3):c.1197G>A (p.Val399=)
|
|
|
NM_004369.4(COL6A3):c.11A>G (p.His4Arg)
|
|
|
NM_004369.4(COL6A3):c.11A>T (p.His4Leu)
|
rs777465480
|
|
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu)
|
rs746277006
|
|
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=)
|
|
|
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=)
|
|
|
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
|
|
|
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=)
|
|
|
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn)
|
rs35914491
|
|
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
|
|
|
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=)
|
|
|
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val)
|
rs1559280207
|
|
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)
|
|
|
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=)
|
rs1162933726
|
|
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val)
|
|
|
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser)
|
rs2078177097
|
|
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe)
|
rs2078177026
|
|
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
|
|
|
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=)
|
|
|
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile)
|
rs2106378142
|
|
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe)
|
rs2078176426
|
|
NM_004369.4(COL6A3):c.1312+12C>A
|
rs915562937
|
|
NM_004369.4(COL6A3):c.1312+12C>G
|
|
|
NM_004369.4(COL6A3):c.1312+19C>G
|
|
|
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
|
|
|
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr)
|
rs2106370456
|
|
NM_004369.4(COL6A3):c.1323C>T (p.Val441=)
|
|
|
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=)
|
|
|
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=)
|
rs2106370423
|
|
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=)
|
|
|
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)
|
rs886043010
|
|
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp)
|
rs777078456
|
|
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
|
|
|
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=)
|
|
|
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val)
|
rs2106370357
|
|
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
|
|
|
NM_004369.4(COL6A3):c.141T>C (p.Ser47=)
|
rs2078403487
|
|
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
|
|
|
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly)
|
rs2078001580
|
|
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
|
|
|
NM_004369.4(COL6A3):c.1452G>T (p.Val484=)
|
rs1574726196
|
|
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=)
|
|
|
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val)
|
rs2106370266
|
|
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
|
|
|
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
|
|
|
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His)
|
rs2077999753
|
|
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=)
|
|
|
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
|
|
|
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=)
|
rs1259919285
|
|
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr)
|
rs2077998366
|
|
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr)
|
|
|
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser)
|
rs775165275
|
|
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=)
|
rs2106370154
|
|
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp)
|
rs369379463
|
|
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
|
|
|
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=)
|
|
|
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=)
|
rs764955459
|
|
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=)
|
rs2106370096
|
|
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
|
|
|
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
|
|
|
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
|
|
|
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
|
|
|
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=)
|
rs574912582
|
|
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=)
|
|
|
NM_004369.4(COL6A3):c.159A>G (p.Glu53=)
|
rs1259558140
|
|
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
|
|
|
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr)
|
|
|
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
|
|
|
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg)
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu)
|
|
|
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe)
|
|
|
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=)
|
rs141939225
|
|
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=)
|
|
|
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
|
|
|
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=)
|
rs1256532267
|
|
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)
|
rs1559261557
|
|
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
|
|
|
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val)
|
rs765665120
|
|
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
|
|
|
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)
|
rs1574725167
|
|
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu)
|
rs1553562483
|
|
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
|
|
|
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
|
|
|
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
|
|
|
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
|
|
|
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met)
|
rs114278376
|
|
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu)
|
rs76576170
|
|
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile)
|
rs886043319
|
|
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
|
|
|
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu)
|
rs2106369723
|
|
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
|
|
|
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
|
|
|
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)
|
|
|
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser)
|
rs375649083
|
|
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=)
|
rs756709812
|
|
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=)
|
|
|
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=)
|
|
|
NM_004369.4(COL6A3):c.183del (p.Leu62fs)
|
rs764524653
|
|
NM_004369.4(COL6A3):c.184C>T (p.Leu62=)
|
|
|
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
|
|
|
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys)
|
rs886043105
|
|
NM_004369.4(COL6A3):c.1897+16C>G
|
|
|
NM_004369.4(COL6A3):c.1898-10T>C
|
rs573663410
|
|
NM_004369.4(COL6A3):c.1898-17dup
|
rs750049890
|
|
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr)
|
rs769257731
|
|
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
|
|
|
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
|
|
|
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn)
|
rs1181696188
|
|
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala)
|
rs768274647
|
|
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
|
|
|
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)
|
rs2106367443
|
|
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
|
|
|
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)
|
rs149187225
|
|
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
|
|
|
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=)
|
rs1574721263
|
|
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
|
|
|
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
|
|
|
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser)
|
rs746265516
|
|
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
|
|
|
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
|
|
|
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
|
|
|
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
|
|
|
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu)
|
rs35227432
|
|
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp)
|
rs1325552568
|
|
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly)
|
rs753741086
|
|
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu)
|
|
|
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu)
|
rs2106367262
|
|
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=)
|
rs767818130
|
|
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
|
|
|
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=)
|
rs1372723004
|
|
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly)
|
rs2106367237
|
|
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
|
|
|
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
|
|
|
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
|
|
|
NM_004369.4(COL6A3):c.211G>A (p.Val71Met)
|
|
|
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys)
|
rs2106367135
|
|
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val)
|
rs2106367128
|
|
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)
|
|
|
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
|
|
|
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
|
|
|
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=)
|
|
|
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
|
|
|
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly)
|
rs138570455
|
|
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=)
|
|
|
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys)
|
rs370719148
|
|
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser)
|
rs1410013839
|
|
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)
|
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln)
|
|
|
NM_004369.4(COL6A3):c.2226C>T (p.His742=)
|
rs376627571
|
|
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)
|
|
|
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=)
|
rs766815447
|
|
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
|
|
|
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=)
|
|
|
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys)
|
|
|
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
|
|
|
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=)
|
|
|
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
|
|
|
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr)
|
|
|
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)
|
|
|
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)
|
rs200722892
|
|
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
|
|
|
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=)
|
|
|
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=)
|
rs2077920362
|
|
NM_004369.4(COL6A3):c.231T>C (p.His77=)
|
|
|
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln)
|
rs776048975
|
|
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
|
|
|
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
|
|
|
NM_004369.4(COL6A3):c.2367del (p.Ile789fs)
|
rs2106366689
|
|
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp)
|
rs1574719707
|
|
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val)
|
rs777869450
|
|
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro)
|
rs939675343
|
|
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val)
|
rs1559257612
|
|
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
|
|
|
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=)
|
|
|
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser)
|
rs1574719546
|
|
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
|
|
|
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)
|
rs1574719512
|
|
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala)
|
rs2106366553
|
|
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=)
|
rs2106366549
|
|
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
|
|
|
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
|
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=)
|
rs988131438
|
|
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
|
|
|
NM_004369.4(COL6A3):c.2497+17G>T
|
|
|
NM_004369.4(COL6A3):c.2497+20G>A
|
|
|
NM_004369.4(COL6A3):c.2497+3A>T
|
|
|
NM_004369.4(COL6A3):c.2497+4_2497+9del
|
|
|
NM_004369.4(COL6A3):c.2497+7C>A
|
rs2077913887
|
|
NM_004369.4(COL6A3):c.2497+8T>C
|
rs2106366476
|
|
NM_004369.4(COL6A3):c.2497+9C>T
|
rs774198344
|
|
NM_004369.4(COL6A3):c.2498-15del
|
|
|
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
|
|
|
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg)
|
rs767437328
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=)
|
rs187237497
|
|
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=)
|
|
|
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
|
|
|
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
|
|
|
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu)
|
rs1574716769
|
|
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly)
|
rs2077873907
|
|
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val)
|
rs570233756
|
|
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
|
|
|
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys)
|
rs2106364778
|
|
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=)
|
|
|
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
|
|
|
NM_004369.4(COL6A3):c.2604G>A (p.Val868=)
|
|
|
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
|
|
|
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
|
|
|
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly)
|
|
|
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=)
|
rs1559255553
|
|
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)
|
rs1553561409
|
|
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
|
|
|
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
|
|
|
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
|
|
|
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
|
rs780855121
|
|
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
|
|
|
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
|
|
|
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=)
|
rs2106364617
|
|
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val)
|
rs2077868769
|
|
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met)
|
rs890279367
|
|
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met)
|
|
|
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=)
|
|
|
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=)
|
|
|
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp)
|
rs2106364518
|
|
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)
|
|
|
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
|
|
|
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=)
|
|
|
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
|
|
|
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
|
|
|
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=)
|
|
|
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro)
|
|
|
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=)
|
rs116256579
|
|
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys)
|
rs774872934
|
|
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)
|
|
|
NM_004369.4(COL6A3):c.2835G>A (p.Val945=)
|
|
|
NM_004369.4(COL6A3):c.2844C>T (p.Val948=)
|
|
|
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=)
|
|
|
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys)
|
rs886043736
|
|
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
|
rs543253703
|
|
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
|
|
|
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
|
|
|
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala)
|
rs1226873582
|
|
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
|
|
|
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
|
|
|
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser)
|
rs768292803
|
|
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)
|
rs763515820
|
|
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala)
|
rs2077857997
|
|
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
|
|
|
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met)
|
rs145203676
|
|
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)
|
|
|
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr)
|
rs2077856364
|
|
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=)
|
|
|
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
|
|
|
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=)
|
rs769667715
|
|
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn)
|
rs2106364042
|
|
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val)
|
rs1194314017
|
|
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=)
|
|
|
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
|
|
|
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln)
|
rs114284669
|
|
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=)
|
rs915245460
|
|
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu)
|
rs2077853056
|
|
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)
|
rs886042836
|
|
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
|
|
|
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser)
|
rs2077852366
|
|
NM_004369.4(COL6A3):c.3071-11C>T
|
|
|
NM_004369.4(COL6A3):c.3071-13G>C
|
|
|
NM_004369.4(COL6A3):c.3071-1G>A
|
|
|
NM_004369.4(COL6A3):c.3071-6T>C
|
|
|
NM_004369.4(COL6A3):c.3071-7C>T
|
rs370229367
|
|
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
|
|
|
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
|
|
|
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)
|
rs2077798088
|
|
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
|
|
|
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=)
|
|
|
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
|
|
|
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys)
|
rs2106361725
|
|
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
|
|
|
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=)
|
|
|
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=)
|
rs2106361675
|
|
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)
|
rs780402445
|
|
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
|
|
|
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=)
|
|
|
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu)
|
rs532449385
|
|
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=)
|
|
|
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys)
|
rs1553560705
|
|
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
|
|
|
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala)
|
rs1238550268
|
|
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=)
|
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=)
|
rs201962257
|
|
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=)
|
|
|
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys)
|
rs762778512
|
|
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=)
|
|
|
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=)
|
|
|
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=)
|
rs200562443
|
|
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
|
|
|
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
|
|
|
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser)
|
rs369460632
|
|
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
|
|
|
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
|
|
|
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
|
|
|
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg)
|
rs2106361380
|
|
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=)
|
|
|
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
|
|
|
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile)
|
|
|
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg)
|
rs752924311
|
|
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
|
|
|
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=)
|
rs1553560545
|
|
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
|
|
|
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=)
|
|
|
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met)
|
rs1574709919
|
|
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
|
|
|
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
|
|
|
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=)
|
rs772443564
|
|
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg)
|
rs2106361269
|
|
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val)
|
rs372844024
|
|
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=)
|
|
|
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser)
|
rs2077786156
|
|
NM_004369.4(COL6A3):c.33C>T (p.Ala11=)
|
rs761011715
|
|
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)
|
rs2106361236
|
|
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val)
|
rs2077785980
|
|
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
|
|
|
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile)
|
rs199964760
|
|
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
|
|
|
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala)
|
rs2106388440
|
|
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)
|
|
|
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr)
|
rs2106361118
|
|
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
|
|
|
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
|
|
|
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
|
|
|
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=)
|
|
|
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys)
|
rs2106388428
|
|
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=)
|
|
|
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=)
|
rs1553560457
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
|
|
|
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
|
|
|
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
|
|
|
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile)
|
rs2077780771
|
|
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser)
|
rs920105033
|
|
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=)
|
|
|
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
|
|
|
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
|
|
|
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=)
|
|
|
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=)
|
rs768543487
|
|
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr)
|
rs2106360836
|
|
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
|
|
|
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
|
|
|
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys)
|
rs2077777129
|
|
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=)
|
|
|
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=)
|
rs115065877
|
|
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser)
|
rs1553560314
|
|
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=)
|
|
|
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=)
|
rs547052866
|
|
NM_004369.4(COL6A3):c.3679+10G>A
|
|
|
NM_004369.4(COL6A3):c.3679+13C>T
|
|
|
NM_004369.4(COL6A3):c.3679+14T>G
|
|
|
NM_004369.4(COL6A3):c.3679+17_3679+18del
|
rs759774701
|
|
NM_004369.4(COL6A3):c.3679+5G>A
|
|
|
NM_004369.4(COL6A3):c.3679+9G>A
|
|
|
NM_004369.4(COL6A3):c.3680-14C>G
|
|
|
NM_004369.4(COL6A3):c.3680-18C>T
|
|
|
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
|
|
|
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
|
|
|
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
|
|
|
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly)
|
rs1190794379
|
|
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=)
|
|
|
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro)
|
rs1553559646
|
|
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu)
|
rs368077444
|
|
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=)
|
rs577927810
|
|
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
|
|
|
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His)
|
|
|
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe)
|
rs199646208
|
|
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
|
|
|
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe)
|
rs886044373
|
|
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
|
|
|
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
|
|
|
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
|
|
|
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly)
|
rs773456951
|
|
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
|
|
|
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=)
|
rs886055808
|
|
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu)
|
rs2077710026
|
|
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn)
|
rs752309834
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
NM_004369.4(COL6A3):c.384C>T (p.Ser128=)
|
|
|
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile)
|
rs2077709263
|
|
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
|
|
|
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
|
|
|
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
|
|
|
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
|
|
|
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=)
|
rs2077708134
|
|
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
|
|
|
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met)
|
rs899539198
|
|
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=)
|
|
|
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
|
|
|
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
|
|
|
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp)
|
rs140330124
|
|
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=)
|
rs2106357314
|
|
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
|
|
|
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=)
|
|
|
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=)
|
rs2106357258
|
|
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile)
|
rs779967310
|
|
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.399del (p.Ala134fs)
|
rs2106388332
|
|
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
|
|
|
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
|
|
|
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
|
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)
|
|
|
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn)
|
rs781033908
|
|
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
|
|
|
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
|
|
|
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=)
|
|
|
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn)
|
|
|
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
|
|
|
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
|
|
|
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile)
|
rs2077700902
|
|
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His)
|
rs2106357056
|
|
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=)
|
|
|
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr)
|
rs1460462771
|
|
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
|
|
|
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=)
|
rs2106357035
|
|
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr)
|
rs372234605
|
|
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser)
|
rs372234605
|
|
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=)
|
rs1553559241
|
|
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=)
|
|
|
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
|
|
|
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=)
|
rs2106356973
|
|
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)
|
rs886042447
|
|
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=)
|
|
|
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
|
|
|
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=)
|
rs2077697254
|
|
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
|
|
|
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=)
|
|
|
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp)
|
rs780669785
|
|
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=)
|
rs2077695533
|
|
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=)
|
|
|
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser)
|
rs764522621
|
|
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)
|
rs759052298
|
|
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu)
|
rs1367588379
|
|
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del)
|
rs886043395
|
|
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
|
|
|
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe)
|
|
|
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
|
|
|
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
|
|
|
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
|
|
|
NM_004369.4(COL6A3):c.4285+12G>T
|
rs1295105927
|
|
NM_004369.4(COL6A3):c.4285+16C>T
|
|
|
NM_004369.4(COL6A3):c.4285+3G>A
|
|
|
NM_004369.4(COL6A3):c.4286-2A>C
|
|
|
NM_004369.4(COL6A3):c.4286-2A>G
|
rs761453030
|
|
NM_004369.4(COL6A3):c.4286-7T>G
|
|
|
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=)
|
rs2077626622
|
|
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg)
|
rs2077626425
|
|
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu)
|
rs775286217
|
|
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu)
|
rs144314743
|
|
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr)
|
rs2106353352
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
|
|
|
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
|
|
|
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
|
|
|
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=)
|
|
|
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn)
|
rs772700553
|
|
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)
|
|
|
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val)
|
rs2077624929
|
|
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln)
|
rs2077624807
|
|
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys)
|
rs2077624444
|
|
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=)
|
rs2106353277
|
|
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
|
|
|
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)
|
rs912671116
|
|
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln)
|
|
|
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
|
|
|
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser)
|
rs771199614
|
|
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=)
|
|
|
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His)
|
rs2077623565
|
|
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
|
|
|
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys)
|
rs2106353213
|
|
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)
|
rs1216842831
|
|
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
|
|
|
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
|
|
|
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg)
|
rs2106353172
|
|
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser)
|
rs2077622262
|
|
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile)
|
rs2077622262
|
|
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
|
|
|
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
|
|
|
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=)
|
|
|
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=)
|
|
|
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=)
|
rs369543806
|
|
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)
|
|
|
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu)
|
rs115551245
|
|
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp)
|
rs2106353091
|
|
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
|
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)
|
rs754840728
|
|
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys)
|
rs766158387
|
|
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met)
|
rs766158387
|
|
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=)
|
|
|
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg)
|
rs1293450770
|
|
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
|
|
|
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
|
|
|
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr)
|
rs1553557796
|
|
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe)
|
rs1370846981
|
|
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=)
|
rs1574695218
|
|
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=)
|
rs2106352992
|
|
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
|
|
|
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr)
|
rs2077618678
|
|
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
|
|
|
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
|
|
|
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
|
|
|
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
|
|
|
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=)
|
rs1223820832
|
|
NM_004369.4(COL6A3):c.45C>G (p.Leu15=)
|
|
|
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
|
|
|
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr)
|
rs1559279425
|
|
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
|
|
|
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
|
|
|
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
|
|
|
NM_004369.4(COL6A3):c.462G>T (p.Ser154=)
|
|
|
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=)
|
|
|
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=)
|
rs1017491163
|
|
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=)
|
|
|
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu)
|
rs375207869
|
|
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=)
|
|
|
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)
|
rs371631320
|
|
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser)
|
|
|
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu)
|
rs1553557605
|
|
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
|
|
|
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met)
|
rs201178064
|
|
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly)
|
rs200825417
|
|
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=)
|
|
|
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn)
|
rs1473351823
|
|
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg)
|
rs1340303980
|
|
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp)
|
rs1559239453
|
|
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
|
|
|
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
|
|
|
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
|
|
|
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=)
|
|
|
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala)
|
rs745755603
|
|
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His)
|
rs904372024
|
|
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=)
|
|
|
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=)
|
rs2077611451
|
|
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu)
|
rs886042267
|
|
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala)
|
rs1559239279
|
|
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val)
|
rs1064796167
|
|
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
|
|
|
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
|
|
|
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser)
|
rs2106352582
|
|
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
|
|
|
NM_004369.4(COL6A3):c.483C>T (p.Pro161=)
|
rs2106388145
|
|
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser)
|
rs200433282
|
|
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val)
|
rs1168631702
|
|
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=)
|
|
|
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
|
rs2077607833
|
|
NM_004369.4(COL6A3):c.4900+3A>G
|
rs894493736
|
|
NM_004369.4(COL6A3):c.4900+9C>A
|
rs117345850
|
|
NM_004369.4(COL6A3):c.4901-9C>G
|
|
|
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu)
|
rs1553556773
|
|
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
|
|
|
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu)
|
rs1559237565
|
|
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
|
|
|
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=)
|
|
|
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val)
|
rs941055048
|
|
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=)
|
|
|
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu)
|
rs1574991145
|
|
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr)
|
rs1574991130
|
|
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
|
|
|
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys)
|
rs1194443961
|
|
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
|
|
|
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=)
|
|
|
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
|
|
|
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys)
|
rs1553556695
|
|
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
|
|
|
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu)
|
rs886043879
|
|
NM_004369.4(COL6A3):c.498G>A (p.Lys166=)
|
rs2106388118
|
|
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
|
|
|
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=)
|
|
|
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe)
|
rs1028347478
|
|
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=)
|
|
|
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg)
|
rs2106350905
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
|
|
|
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
|
|
|
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val)
|
rs147231661
|
|
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
|
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
|
|
|
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg)
|
rs2077571169
|
|
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=)
|
|
|
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp)
|
rs1553556546
|
|
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
|
|
|
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
|
|
|
NM_004369.4(COL6A3):c.516G>A (p.Val172=)
|
rs2106388091
|
|
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=)
|
|
|
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
|
|
|
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=)
|
|
|
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met)
|
rs2077569879
|
|
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
|
|
|
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=)
|
rs578249894
|
|
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp)
|
rs578249894
|
|
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln)
|
rs886042855
|
|
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
|
|
|
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
|
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn)
|
rs536364005
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
|
|
|
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp)
|
rs2106350563
|
|
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
|
|
|
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
|
rs755698278
|
|
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg)
|
rs763289509
|
|
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
|
|
|
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala)
|
rs771598463
|
|
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
|
|
|
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp)
|
rs1375292407
|
|
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly)
|
rs2077565368
|
|
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile)
|
rs2106350461
|
|
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
|
|
|
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=)
|
|
|
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
|
|
|
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
|
|
|
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
|
|
|
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys)
|
rs114357878
|
|
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=)
|
|
|
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=)
|
|
|
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val)
|
rs2077563075
|
|
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn)
|
rs1553556280
|
|
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
|
|
|
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln)
|
rs1463075616
|
|
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=)
|
rs2106350355
|
|
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
|
|
|
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val)
|
rs764242694
|
|
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
|
|
|
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser)
|
rs1440752292
|
|
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)
|
rs777304794
|
|
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
|
|
|
NM_004369.4(COL6A3):c.5500+14T>A
|
|
|
NM_004369.4(COL6A3):c.5500+17G>T
|
|
|
NM_004369.4(COL6A3):c.5500+20T>C
|
rs2077560317
|
|
NM_004369.4(COL6A3):c.5500+3A>C
|
rs1345603228
|
|
NM_004369.4(COL6A3):c.5500+8C>G
|
rs2077560922
|
|
NM_004369.4(COL6A3):c.5501-16C>A
|
|
|
NM_004369.4(COL6A3):c.5501-17G>T
|
rs200723656
|
|
NM_004369.4(COL6A3):c.5501-7T>G
|
|
|
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
|
|
|
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser)
|
rs1559235332
|
|
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
|
|
|
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
|
|
|
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala)
|
rs747200439
|
|
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=)
|
|
|
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala)
|
rs1559235183
|
|
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=)
|
rs2106349387
|
|
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
|
|
|
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
|
|
|
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn)
|
rs906293407
|
|
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
|
|
|
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser)
|
rs1465215888
|
|
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
|
|
|
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro)
|
rs1559234936
|
|
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
|
|
|
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)
|
rs368943871
|
|
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=)
|
rs886044430
|
|
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
|
|
|
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met)
|
|
|
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
|
|
|
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr)
|
|
|
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
|
|
|
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys)
|
rs143389941
|
|
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=)
|
rs1026411798
|
|
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=)
|
|
|
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
|
|
|
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=)
|
|
|
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp)
|
|
|
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
|
|
|
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
|
|
|
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)
|
rs2106349155
|
|
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=)
|
|
|
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser)
|
rs750367811
|
|
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
|
|
|
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
|
|
|
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
|
rs139230842
|
|
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg)
|
|
|
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg)
|
rs1351246573
|
|
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys)
|
rs1574987599
|
|
NM_004369.4(COL6A3):c.576G>A (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
|
|
|
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)
|
|
|
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile)
|
rs113817270
|
|
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser)
|
rs1574987505
|
|
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
|
|
|
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp)
|
rs2078384466
|
|
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)
|
rs113332380
|
|
NM_004369.4(COL6A3):c.5838+1G>T
|
rs1559234260
|
|
NM_004369.4(COL6A3):c.5838+5G>A
|
rs1553555753
|
|
NM_004369.4(COL6A3):c.5838+9G>C
|
|
|
NM_004369.4(COL6A3):c.5839-9T>C
|
rs745307761
|
|
NM_004369.4(COL6A3):c.5839-9T>G
|
|
|
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe)
|
rs1454153037
|
|
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=)
|
rs2106347308
|
|
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr)
|
rs2078384209
|
|
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
|
|
|
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
|
|
|
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
|
|
|
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
|
|
|
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr)
|
rs1364239110
|
|
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=)
|
|
|
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala)
|
rs200110562
|
|
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr)
|
rs2077502544
|
|
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala)
|
rs773896666
|
|
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys)
|
rs886042371
|
|
NM_004369.4(COL6A3):c.5918-11T>C
|
|
|
NM_004369.4(COL6A3):c.5918-17T>C
|
rs2106346191
|
|
NM_004369.4(COL6A3):c.5918-7T>G
|
rs1004578583
|
|
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
|
|
|
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
|
|
|
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
|
|
|
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
|
|
|
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
|
|
|
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
|
|
|
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln)
|
rs1362987398
|
|
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly)
|
rs558534346
|
|
NM_004369.4(COL6A3):c.595A>C (p.Asn199His)
|
|
|
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=)
|
|
|
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr)
|
rs1559231403
|
|
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)
|
|
|
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg)
|
rs1326219992
|
|
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
|
|
|
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=)
|
rs372028656
|
|
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val)
|
rs1211265308
|
|
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
|
|
|
NM_004369.4(COL6A3):c.6063+12_6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.6063+13T>A
|
|
|
NM_004369.4(COL6A3):c.6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.6063+14A>T
|
rs1242577749
|
|
NM_004369.4(COL6A3):c.6063+14_6063+15insG
|
rs2106345949
|
|
NM_004369.4(COL6A3):c.6063+5dup
|
rs2077478134
|
|
NM_004369.4(COL6A3):c.6064-11C>T
|
|
|
NM_004369.4(COL6A3):c.6064-16C>A
|
|
|
NM_004369.4(COL6A3):c.6064-6C>G
|
rs202091342
|
|
NM_004369.4(COL6A3):c.6064-7T>G
|
|
|
NM_004369.4(COL6A3):c.6064-8T>G
|
rs2106344303
|
|
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=)
|
rs886044237
|
|
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
|
|
|
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
|
|
|
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly)
|
rs2106344266
|
|
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr)
|
rs758893173
|
|
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe)
|
rs1316305394
|
|
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser)
|
|
|
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs)
|
rs2106344225
|
|
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
|
|
|
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
|
|
|
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn)
|
rs1574755113
|
|
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser)
|
rs767129751
|
|
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)
|
rs1559229322
|
|
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
|
|
|
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=)
|
|
|
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
|
|
|
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
|
|
|
NM_004369.4(COL6A3):c.6156+1G>A
|
rs1553554298
|
|
NM_004369.4(COL6A3):c.6156+1G>T
|
rs1553554298
|
|
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6157-16G>C
|
|
|
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)
|
rs886041329
|
|
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)
|
rs1064795558
|
|
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=)
|
rs1574978545
|
|
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp)
|
rs2106343480
|
|
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys)
|
rs2106343479
|
|
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.619C>A (p.His207Asn)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
|
|
|
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp)
|
rs963783516
|
|
NM_004369.4(COL6A3):c.6210+13T>C
|
|
|
NM_004369.4(COL6A3):c.6210+15T>C
|
rs2106343420
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6210+4dup
|
|
|
NM_004369.4(COL6A3):c.6210+9_6210+19del
|
|
|
NM_004369.4(COL6A3):c.6211-11T>A
|
|
|
NM_004369.4(COL6A3):c.6211-17T>G
|
|
|
NM_004369.4(COL6A3):c.6211-4A>G
|
rs398124127
|
|
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys)
|
rs2106342311
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
NM_004369.4(COL6A3):c.6212_6309+28del
|
rs1553553313
|
|
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=)
|
|
|
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys)
|
rs1306849935
|
|
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)
|
rs886044252
|
|
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
|
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
|
|
|
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu)
|
rs2106342286
|
|
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr)
|
rs2106342283
|
|
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
|
|
|
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)
|
rs1553553625
|
|
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
|
|
|
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
|
|
|
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
|
|
|
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr)
|
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
NM_004369.4(COL6A3):c.6282+20G>A
|
|
|
NM_004369.4(COL6A3):c.6282+8G>A
|
|
|
NM_004369.4(COL6A3):c.6283-14G>A
|
|
|
NM_004369.4(COL6A3):c.6283-15C>A
|
|
|
NM_004369.4(COL6A3):c.6283-1G>A
|
rs2106341460
|
|
NM_004369.4(COL6A3):c.6283-326_6296del
|
rs2106341434
|
|
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe)
|
rs765213888
|
|
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln)
|
rs79375816
|
|
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val)
|
rs794727206
|
|
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)
|
rs1574975203
|
|
NM_004369.4(COL6A3):c.6309+10C>G
|
rs2077385627
|
|
NM_004369.4(COL6A3):c.6309+1G>A
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+1G>C
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+3A>T
|
rs1553553327
|
|
NM_004369.4(COL6A3):c.6309+8A>G
|
rs2077385691
|
|
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6309_6309+1del
|
rs2077385886
|
|
NM_004369.4(COL6A3):c.6310-17G>A
|
|
|
NM_004369.4(COL6A3):c.6310-28_6325del
|
rs1553553267
|
|
NM_004369.4(COL6A3):c.6310-2A>G
|
rs1559225993
|
|
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
|
|
|
NM_004369.4(COL6A3):c.6318A>G (p.Val2106=)
|
rs1574974939
|
|
NM_004369.4(COL6A3):c.6354+12T>A
|
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6354+1G>T
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6354+5G>A
|
|
|
NM_004369.4(COL6A3):c.6355-10T>C
|
|
|
NM_004369.4(COL6A3):c.6355-2dup
|
rs2077379376
|
|
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu)
|
rs1574974640
|
|
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
|
|
|
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
|
|
|
NM_004369.4(COL6A3):c.6408+17G>A
|
|
|
NM_004369.4(COL6A3):c.6409-13G>A
|
|
|
NM_004369.4(COL6A3):c.6409-19A>G
|
|
|
NM_004369.4(COL6A3):c.6409-1G>C
|
|
|
NM_004369.4(COL6A3):c.6409-8T>C
|
rs2106340546
|
|
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
|
|
|
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly)
|
rs530866854
|
|
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
|
|
|
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp)
|
rs2106340479
|
|
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg)
|
rs2106340509
|
|
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=)
|
|
|
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys)
|
rs1574973805
|
|
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn)
|
rs2077367323
|
|
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=)
|
|
|
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
|
|
|
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro)
|
rs145561490
|
|
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His)
|
rs1483242059
|
|
NM_004369.4(COL6A3):c.6471+17T>C
|
|
|
NM_004369.4(COL6A3):c.6472-15C>T
|
|
|
NM_004369.4(COL6A3):c.6472-7C>G
|
|
|
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
|
|
|
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)
|
rs758376967
|
|
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu)
|
rs745761792
|
|
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
|
|
|
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
|
|
|
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=)
|
|
|
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg)
|
rs762287373
|
|
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
|
|
|
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
|
|
|
NM_004369.4(COL6A3):c.6537+15A>G
|
|
|
NM_004369.4(COL6A3):c.6538-12T>C
|
|
|
NM_004369.4(COL6A3):c.6538-13T>C
|
rs754557027
|
|
NM_004369.4(COL6A3):c.6538-20G>C
|
|
|
NM_004369.4(COL6A3):c.6538-5A>C
|
rs1574971750
|
|
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu)
|
rs2106339211
|
|
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=)
|
rs1172324866
|
|
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=)
|
|
|
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
|
|
|
NM_004369.4(COL6A3):c.6591+15G>T
|
|
|
NM_004369.4(COL6A3):c.6591+5G>A
|
rs1574971639
|
|
NM_004369.4(COL6A3):c.6591+7G>A
|
|
|
NM_004369.4(COL6A3):c.6592-11T>C
|
|
|
NM_004369.4(COL6A3):c.6592-19_6592-10del
|
rs2077285974
|
|
NM_004369.4(COL6A3):c.6592-8T>C
|
rs994267675
|
|
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser)
|
rs761353795
|
|
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp)
|
rs1319341064
|
|
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=)
|
|
|
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)
|
|
|
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
|
|
|
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr)
|
rs748768672
|
|
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
|
|
|
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
|
|
|
NM_004369.4(COL6A3):c.661G>A (p.Val221Met)
|
rs765527121
|
|
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
|
|
|
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6627+15G>A
|
|
|
NM_004369.4(COL6A3):c.6627+19C>A
|
|
|
NM_004369.4(COL6A3):c.6627+3G>A
|
|
|
NM_004369.4(COL6A3):c.6627+9C>T
|
|
|
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=)
|
rs765837100
|
|
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=)
|
rs147537071
|
|
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val)
|
rs2106334478
|
|
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=)
|
|
|
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=)
|
rs538533719
|
|
NM_004369.4(COL6A3):c.6690+11C>T
|
|
|
NM_004369.4(COL6A3):c.6690+12C>T
|
|
|
NM_004369.4(COL6A3):c.6690+13G>A
|
|
|
NM_004369.4(COL6A3):c.6691-10C>T
|
|
|
NM_004369.4(COL6A3):c.6691-16T>G
|
rs1211086568
|
|
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
|
|
|
NM_004369.4(COL6A3):c.669A>C (p.Pro223=)
|
|
|
NM_004369.4(COL6A3):c.669A>G (p.Pro223=)
|
rs1246288754
|
|
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala)
|
rs1574963550
|
|
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=)
|
|
|
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
|
|
|
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln)
|
rs753307921
|
|
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val)
|
rs1473692842
|
|
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
|
|
|
NM_004369.4(COL6A3):c.6753+15A>G
|
|
|
NM_004369.4(COL6A3):c.6754-12C>T
|
rs2077199421
|
|
NM_004369.4(COL6A3):c.6754-15C>T
|
|
|
NM_004369.4(COL6A3):c.6754-18C>G
|
|
|
NM_004369.4(COL6A3):c.6754-18C>T
|
|
|
NM_004369.4(COL6A3):c.6754-20T>C
|
|
|
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
|
|
|
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr)
|
rs2077198497
|
|
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
|
|
|
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
|
|
|
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
|
|
|
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
|
|
|
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=)
|
rs116541926
|
|
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
|
|
|
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=)
|
|
|
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=)
|
|
|
NM_004369.4(COL6A3):c.6816+8T>G
|
|
|
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn)
|
rs2077197570
|
|
NM_004369.4(COL6A3):c.6817-5T>C
|
rs794727464
|
|
NM_004369.4(COL6A3):c.6817-6G>A
|
rs886042773
|
|
NM_004369.4(COL6A3):c.6817-9C>G
|
|
|
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)
|
rs761156771
|
|
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
|
|
|
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr)
|
rs1574958818
|
|
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val)
|
rs1186288111
|
|
NM_004369.4(COL6A3):c.684C>T (p.Asp228=)
|
rs771393722
|
|
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=)
|
rs3790993
|
|
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His)
|
rs398124131
|
|
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys)
|
rs759657526
|
|
NM_004369.4(COL6A3):c.6879+13C>T
|
rs754120322
|
|
NM_004369.4(COL6A3):c.6879+14G>T
|
|
|
NM_004369.4(COL6A3):c.6879+16G>T
|
|
|
NM_004369.4(COL6A3):c.6879+18T>C
|
|
|
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=)
|
rs886044656
|
|
NM_004369.4(COL6A3):c.687G>A (p.Thr229=)
|
|
|
NM_004369.4(COL6A3):c.6880-20C>A
|
|
|
NM_004369.4(COL6A3):c.6880-6T>C
|
rs1023123323
|
|
NM_004369.4(COL6A3):c.6880-7C>A
|
|
|
NM_004369.4(COL6A3):c.6880-8A>G
|
rs377004585
|
|
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=)
|
|
|
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg)
|
rs1224613890
|
|
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
|
|
|
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe)
|
rs1559212695
|
|
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=)
|
|
|
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr)
|
rs2106329002
|
|
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
|
|
|
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=)
|
|
|
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser)
|
rs370862741
|
|
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
|
|
|
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His)
|
rs1177122610
|
|
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
NM_004369.4(COL6A3):c.6930+6dup
|
|
|
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
|
|
|
NM_004369.4(COL6A3):c.6931-10dup
|
rs2106328779
|
|
NM_004369.4(COL6A3):c.6931-19A>G
|
|
|
NM_004369.4(COL6A3):c.6931-19A>T
|
rs771629624
|
|
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser)
|
rs1243164167
|
|
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
|
|
|
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu)
|
rs751617505
|
|
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln)
|
rs1207239805
|
|
NM_004369.4(COL6A3):c.6966+11C>T
|
|
|
NM_004369.4(COL6A3):c.6966+18G>A
|
|
|
NM_004369.4(COL6A3):c.6966+9T>A
|
|
|
NM_004369.4(COL6A3):c.6967-10T>C
|
rs777986767
|
|
NM_004369.4(COL6A3):c.6967-18T>A
|
|
|
NM_004369.4(COL6A3):c.6967-2A>G
|
|
|
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys)
|
rs113961575
|
|
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr)
|
rs886044392
|
|
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala)
|
rs886044392
|
|
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr)
|
rs371637449
|
|
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser)
|
rs2077126598
|
|
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
|
|
|
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
|
|
|
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=)
|
|
|
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
|
|
|
NM_004369.4(COL6A3):c.7029+11G>A
|
|
|
NM_004369.4(COL6A3):c.7029+13_7029+44del
|
|
|
NM_004369.4(COL6A3):c.7029+19T>C
|
|
|
NM_004369.4(COL6A3):c.7030-20G>A
|
|
|
NM_004369.4(COL6A3):c.7030-4C>G
|
rs886042395
|
|
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg)
|
rs2106326911
|
|
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
|
|
|
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=)
|
rs1574951790
|
|
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly)
|
rs1482724586
|
|
NM_004369.4(COL6A3):c.705C>A (p.Ile235=)
|
|
|
NM_004369.4(COL6A3):c.705C>T (p.Ile235=)
|
rs993297723
|
|
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
|
|
|
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser)
|
rs934983963
|
|
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
|
|
|
NM_004369.4(COL6A3):c.709+11C>G
|
|
|
NM_004369.4(COL6A3):c.709+12G>A
|
|
|
NM_004369.4(COL6A3):c.709+13C>T
|
|
|
NM_004369.4(COL6A3):c.709+16C>T
|
|
|
NM_004369.4(COL6A3):c.709+18A>C
|
|
|
NM_004369.4(COL6A3):c.709+18A>G
|
|
|
NM_004369.4(COL6A3):c.709+9A>C
|
|
|
NM_004369.4(COL6A3):c.7092+16G>C
|
|
|
NM_004369.4(COL6A3):c.7092+5G>A
|
|
|
NM_004369.4(COL6A3):c.7093-15T>C
|
|
|
NM_004369.4(COL6A3):c.7093-17G>A
|
|
|
NM_004369.4(COL6A3):c.7093-18C>T
|
|
|
NM_004369.4(COL6A3):c.7093-5dup
|
rs751423264
|
|
NM_004369.4(COL6A3):c.7093-9G>T
|
rs2106325624
|
|
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr)
|
rs1553564820
|
|
NM_004369.4(COL6A3):c.710-20dup
|
rs759721812
|
|
NM_004369.4(COL6A3):c.710-6_710-5dup
|
|
|
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
|
|
|
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=)
|
rs775666497
|
|
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=)
|
rs1410340783
|
|
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
|
|
|
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs)
|
rs1323862623
|
|
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
|
|
|
NM_004369.4(COL6A3):c.7125+11T>C
|
|
|
NM_004369.4(COL6A3):c.7125+12G>A
|
|
|
NM_004369.4(COL6A3):c.7125+15T>C
|
|
|
NM_004369.4(COL6A3):c.7125+19G>C
|
|
|
NM_004369.4(COL6A3):c.7126-12T>C
|
|
|
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=)
|
|
|
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
|
|
|
NM_004369.4(COL6A3):c.7162+11G>A
|
rs540897134
|
|
NM_004369.4(COL6A3):c.7162+1G>A
|
|
|
NM_004369.4(COL6A3):c.7162+2dup
|
|
|
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
|
|
|
NM_004369.4(COL6A3):c.7163-5del
|
|
|
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly)
|
rs2078202028
|
|
NM_004369.4(COL6A3):c.7174+1del
|
rs2106325341
|
|
NM_004369.4(COL6A3):c.7174+5G>A
|
rs777424537
|
|
NM_004369.4(COL6A3):c.7174+5G>T
|
|
|
NM_004369.4(COL6A3):c.7175-3C>T
|
|
|
NM_004369.4(COL6A3):c.7175-6C>G
|
rs199723531
|
|
NM_004369.4(COL6A3):c.7175-6C>T
|
|
|
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
|
|
|
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu)
|
rs2078201961
|
|
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=)
|
|
|
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=)
|
|
|
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro)
|
rs2077065222
|
|
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=)
|
rs1162382032
|
|
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val)
|
rs2077064946
|
|
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
|
|
|
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
|
|
|
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu)
|
rs768794876
|
|
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)
|
rs1339553173
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
|
|
|
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
|
|
|
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
|
|
|
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
|
|
|
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
|
|
|
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys)
|
|
|
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
|
|
|
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=)
|
rs2106325082
|
|
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
|
|
|
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val)
|
rs555176397
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro)
|
rs895701604
|
|
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
|
|
|
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met)
|
rs1400293403
|
|
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile)
|
rs2106379268
|
|
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala)
|
rs2077061420
|
|
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys)
|
rs569662223
|
|
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys)
|
rs886044364
|
|
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp)
|
rs114199044
|
|
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala)
|
rs757349865
|
|
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu)
|
rs2077060526
|
|
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
|
|
|
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=)
|
rs2106324946
|
|
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=)
|
|
|
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=)
|
|
|
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro)
|
rs1574948119
|
|
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys)
|
rs2106324901
|
|
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
|
|
|
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile)
|
rs2106324896
|
|
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
|
|
|
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
|
|
|
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp)
|
rs398124134
|
|
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met)
|
rs1446344528
|
|
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=)
|
|
|
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
|
|
|
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
|
|
|
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
|
|
|
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
|
rs749651818
|
|
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=)
|
|
|
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu)
|
rs2077056501
|
|
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=)
|
rs765129895
|
|
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
|
|
|
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
|
|
|
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn)
|
rs201283466
|
|
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
|
|
|
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
|
|
|
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
|
|
|
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr)
|
rs2106324714
|
|
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=)
|
rs749750613
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)
|
rs2106324666
|
|
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=)
|
|
|
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)
|
rs2077054122
|
|
NM_004369.4(COL6A3):c.7668+5G>C
|
|
|
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His)
|
rs1553547891
|
|
NM_004369.4(COL6A3):c.7669-15T>C
|
|
|
NM_004369.4(COL6A3):c.7669-16C>T
|
|
|
NM_004369.4(COL6A3):c.7669-3C>T
|
rs763071900
|
|
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser)
|
|
|
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
|
|
|
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg)
|
rs780964113
|
|
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=)
|
rs1033018695
|
|
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile)
|
rs1559203170
|
|
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln)
|
rs2077000191
|
|
NM_004369.4(COL6A3):c.771T>C (p.Asn257=)
|
|
|
NM_004369.4(COL6A3):c.7765+15T>C
|
rs777263519
|
|
NM_004369.4(COL6A3):c.7765+17A>G
|
rs761150742
|
|
NM_004369.4(COL6A3):c.7766-13T>C
|
rs2076980060
|
|
NM_004369.4(COL6A3):c.7766-14A>G
|
|
|
NM_004369.4(COL6A3):c.7766-20G>A
|
|
|
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
|
|
|
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu)
|
rs1553546746
|
|
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
|
|
|
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=)
|
rs1574940988
|
|
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn)
|
|
|
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
|
|
|
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)
|
rs886042623
|
|
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg)
|
rs1381568881
|
|
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
|
|
|
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
|
|
|
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
|
|
|
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly)
|
rs984056484
|
|
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=)
|
|
|
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu)
|
rs114806654
|
|
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=)
|
rs535306425
|
|
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn)
|
rs145884404
|
|
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
|
|
|
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=)
|
|
|
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
|
|
|
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
|
|
|
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=)
|
rs1235022762
|
|
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=)
|
|
|
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
|
|
|
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=)
|
rs1378457056
|
|
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
|
|
|
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
|
|
|
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=)
|
|
|
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr)
|
rs2106320038
|
|
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=)
|
|
|
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=)
|
rs2076975766
|
|
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=)
|
|
|
NM_004369.4(COL6A3):c.792C>T (p.Phe264=)
|
rs2106379168
|
|
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
|
|
|
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu)
|
rs1419214464
|
|
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn)
|
rs890268146
|
|
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro)
|
rs1192265506
|
|
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
|
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr)
|
rs1559201034
|
|
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=)
|
rs80193928
|
|
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
|
|
|
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
|
|
|
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
|
|
|
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=)
|
|
|
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg)
|
rs761740861
|
|
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu)
|
rs761740861
|
|
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln)
|
rs886055803
|
|
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=)
|
|
|
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
|
|
|
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
|
|
|
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=)
|
|
|
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=)
|
|
|
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=)
|
rs775318733
|
|
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
|
|
|
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)
|
|
|
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val)
|
rs957705259
|
|
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe)
|
rs1031349800
|
|
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=)
|
|
|
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn)
|
rs763974888
|
|
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr)
|
rs763974888
|
|
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
|
|
|
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=)
|
|
|
NM_004369.4(COL6A3):c.816C>T (p.Leu272=)
|
|
|
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
|
|
|
NM_004369.4(COL6A3):c.819A>G (p.Pro273=)
|
rs2106379131
|
|
NM_004369.4(COL6A3):c.81G>A (p.Gln27=)
|
|
|
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp)
|
rs756868781
|
|
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=)
|
rs2106319581
|
|
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr)
|
|
|
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=)
|
|
|
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
|
|
|
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=)
|
|
|
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=)
|
rs534728020
|
|
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys)
|
rs144130137
|
|
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
|
|
|
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val)
|
rs770586429
|
|
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro)
|
rs2076967534
|
|
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)
|
rs2076967147
|
|
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met)
|
rs886044644
|
|
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=)
|
rs766217603
|
|
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=)
|
rs1453228535
|
|
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=)
|
|
|
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe)
|
rs2106319405
|
|
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser)
|
rs763395740
|
|
NM_004369.4(COL6A3):c.837C>A (p.Ile279=)
|
|
|
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu)
|
rs2106319353
|
|
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
|
|
|
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=)
|
rs780134165
|
|
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln)
|
rs370246962
|
|
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
|
|
|
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=)
|
rs753264980
|
|
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
|
|
|
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp)
|
rs1553546042
|
|
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
|
|
|
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
|
|
|
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=)
|
|
|
NM_004369.4(COL6A3):c.8464+7C>T
|
|
|
NM_004369.4(COL6A3):c.8465-18T>C
|
rs1318549888
|
|
NM_004369.4(COL6A3):c.8465-7T>A
|
rs1574936670
|
|
NM_004369.4(COL6A3):c.8465-7del
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8465-7dup
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8465-9T>C
|
|
|
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
|
|
|
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
|
|
|
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=)
|
|
|
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)
|
rs36104025
|
|
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
|
|
|
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
|
|
|
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
|
|
|
NM_004369.4(COL6A3):c.8567+20G>A
|
|
|
NM_004369.4(COL6A3):c.8568-10G>T
|
|
|
NM_004369.4(COL6A3):c.8568-12T>A
|
|
|
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=)
|
|
|
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
|
|
|
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
|
|
|
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=)
|
|
|
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=)
|
|
|
NM_004369.4(COL6A3):c.861C>T (p.Ser287=)
|
rs756380512
|
|
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
|
|
|
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
|
|
|
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=)
|
rs768887961
|
|
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])
|
rs780678900
|
|
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3])
|
rs1167608831
|
|
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=)
|
|
|
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=)
|
rs746309230
|
|
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser)
|
rs1553544899
|
|
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)
|
rs767654047
|
|
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=)
|
|
|
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=)
|
rs551264358
|
|
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2])
|
rs746284792
|
|
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
|
|
|
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=)
|
|
|
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu)
|
rs1553544853
|
|
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=)
|
rs770062985
|
|
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
|
|
|
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)
|
|
|
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
|
|
|
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
|
|
|
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His)
|
rs1559194476
|
|
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=)
|
rs1332418093
|
|
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
|
|
|
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp)
|
rs1455583519
|
|
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
|
|
|
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
|
|
|
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser)
|
rs2106314453
|
|
NM_004369.4(COL6A3):c.877A>G (p.Met293Val)
|
|
|
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr)
|
rs2106314441
|
|
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr)
|
|
|
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=)
|
|
|
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala)
|
rs1700542767
|
|
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr)
|
rs1361910233
|
|
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
|
|
|
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=)
|
rs139811166
|
|
NM_004369.4(COL6A3):c.87A>T (p.Gln29His)
|
rs775946239
|
|
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly)
|
rs1440572476
|
|
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu)
|
rs36020669
|
|
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg)
|
rs1700539745
|
|
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=)
|
|
|
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
|
|
|
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
|
|
|
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=)
|
rs2106314283
|
|
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser)
|
rs1700538106
|
|
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del)
|
rs757584445
|
|
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)
|
rs773820329
|
|
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val)
|
rs1287394484
|
|
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
|
|
|
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=)
|
rs147324162
|
|
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=)
|
rs147324162
|
|
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=)
|
rs114008087
|
|
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser)
|
rs1256198664
|
|
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr)
|
rs727502837
|
|
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
|
|
|
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)
|
rs1553544667
|
|
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=)
|
|
|
NM_004369.4(COL6A3):c.8966-11C>A
|
|
|
NM_004369.4(COL6A3):c.8966-13A>G
|
|
|
NM_004369.4(COL6A3):c.8966-19G>A
|
|
|
NM_004369.4(COL6A3):c.8966-19G>T
|
rs182520636
|
|
NM_004369.4(COL6A3):c.8966-3C>T
|
|
|
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)
|
|
|
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly)
|
|
|
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=)
|
rs2106312595
|
|
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
|
|
|
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr)
|
rs1559270845
|
|
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
|
|
|
NM_004369.4(COL6A3):c.898_900del (p.Ser300del)
|
rs554176183
|
|
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser)
|
rs1187707448
|
|
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=)
|
rs2106312577
|
|
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)
|
|
|
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
|
|
|
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
|
|
|
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly)
|
rs565996170
|
|
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=)
|
|
|
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)
|
|
|
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr)
|
rs767249760
|
|
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
|
|
|
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=)
|
rs1574928802
|
|
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del)
|
rs756150789
|
|
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro)
|
rs1700446197
|
|
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)
|
rs1299012840
|
|
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
|
|
|
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
|
|
|
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu)
|
rs1553544136
|
|
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
|
|
|
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=)
|
rs147327623
|
|
NM_004369.4(COL6A3):c.909C>T (p.Ala303=)
|
|
|
NM_004369.4(COL6A3):c.91+15C>A
|
rs117521066
|
|
NM_004369.4(COL6A3):c.91+4A>G
|
|
|
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)
|
|
|
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
|
|
|
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
|
|
|
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)
|
|
|
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile)
|
rs564041158
|
|
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
|
|
|
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)
|
rs2106312317
|
|
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
|
|
|
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
|
|
|
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)
|
|
|
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)
|
rs1253951128
|
|
NM_004369.4(COL6A3):c.92-19C>A
|
|
|
NM_004369.4(COL6A3):c.92-19C>G
|
|
|
NM_004369.4(COL6A3):c.92-5dup
|
rs1476890625
|
|
NM_004369.4(COL6A3):c.92-6_92-5del
|
rs1476890625
|
|
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
|
|
|
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=)
|
rs1363089686
|
|
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)
|
|
|
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
|
|
|
NM_004369.4(COL6A3):c.9229+4_9229+7del
|
|
|
NM_004369.4(COL6A3):c.9230-19A>G
|
|
|
NM_004369.4(COL6A3):c.9230-1G>A
|
|
|
NM_004369.4(COL6A3):c.9230-20del
|
|
|
NM_004369.4(COL6A3):c.9230-4A>G
|
rs1559190144
|
|
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
|
|
|
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)
|
rs1700374826
|
|
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu)
|
rs182976977
|
|
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
|
|
|
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
|
|
|
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=)
|
rs77368269
|
|
NM_004369.4(COL6A3):c.927G>A (p.Val309=)
|
|
|
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile)
|
rs1700373011
|
|
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=)
|
rs957608376
|
|
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln)
|
rs1288932366
|
|
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)
|
|
|
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
|
|
|
NM_004369.4(COL6A3):c.9328+3G>A
|
|
|
NM_004369.4(COL6A3):c.9328+8G>A
|
|
|
NM_004369.4(COL6A3):c.9329-14T>A
|
|
|
NM_004369.4(COL6A3):c.9329-18C>A
|
|
|
NM_004369.4(COL6A3):c.9329-4A>G
|
|
|
NM_004369.4(COL6A3):c.9329-7A>T
|
|
|
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
|
|
|
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val)
|
rs781284019
|
|
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
|
|
|
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
|
|
|
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg)
|
|
|
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)
|
rs1405374416
|
|
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
|
|
|
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
|
|
|
NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn)
|
rs759514583
|
|
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys)
|
rs1699900051
|
|
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val)
|
rs886042448
|
|
NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=)
|
rs1446752971
|
|
NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)
|
|
|
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
|
|
|
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
|
|
|
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val)
|
rs1553541451
|
|
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
|
|
|
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
|
|
|
NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)
|
|
|
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
|
|
|
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)
|
rs553486570
|
|
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)
|
rs553486570
|
|
NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=)
|
rs367728719
|
|
NM_004369.4(COL6A3):c.9493+14C>T
|
|
|
NM_004369.4(COL6A3):c.9493+16T>C
|
|
|
NM_004369.4(COL6A3):c.9494-12C>G
|
rs957142857
|
|
NM_004369.4(COL6A3):c.9494-15TC[2]
|
|
|
NM_004369.4(COL6A3):c.9494-16C>G
|
|
|
NM_004369.4(COL6A3):c.9494-17C>A
|
|
|
NM_004369.4(COL6A3):c.9494-5C>T
|
rs886043555
|
|
NM_004369.4(COL6A3):c.9494-6G>A
|
|
|
NM_004369.4(COL6A3):c.9494-6G>T
|
rs367899223
|
|
NM_004369.4(COL6A3):c.9494-9G>A
|
|
|
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
|
|
|
NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=)
|
rs1008454322
|
|
NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)
|
|
|
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro)
|
rs2106297671
|
|
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
|
|
|
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn)
|
rs2078191004
|
|
NM_004369.4(COL6A3):c.966C>A (p.Ile322=)
|
rs369160080
|
|
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr)
|
rs2078190150
|
|
NM_004369.4(COL6A3):c.985G>A (p.Val329Met)
|
rs542283928
|
|
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
|
|
|
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
|
|
|