NM_001848.3(COL6A1):c.1335+27A>C
|
rs2850173
|
0.88231
|
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)
|
rs594012
|
0.87913
|
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_001849.4(COL6A2):c.1332+26A>G
|
rs3737362
|
0.82158
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_001849.4(COL6A2):c.1771-25A>G
|
rs2839113
|
0.81072
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
|
rs970547
|
0.72620
|
NM_004370.6(COL12A1):c.5525-132A>G
|
rs1332778
|
0.71264
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_004370.6(COL12A1):c.7086+44C>G
|
rs499018
|
0.64589
|
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_001849.4(COL6A2):c.2462-35C>T
|
rs7279622
|
0.54180
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_001849.4(COL6A2):c.1116+32G>A
|
rs7279347
|
0.49217
|
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_004370.6(COL12A1):c.5395-29G>A
|
rs1332020
|
0.42606
|
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.1462-36A>G
|
rs2276255
|
0.35129
|
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_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)
|
rs240736
|
0.29412
|
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_004369.4(COL6A3):c.7092+26G>A
|
rs2270656
|
0.19247
|
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_004370.6(COL12A1):c.8265+19A>T
|
rs9447445
|
0.11270
|
NM_004370.6(COL12A1):c.1892-8_1892-6del
|
rs199713791
|
0.10881
|
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_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)
|
rs35710072
|
0.05341
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)
|
rs35523808
|
0.03556
|
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_004370.6(COL12A1):c.4001-10G>A
|
rs73749974
|
0.02617
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)
|
rs35429515
|
0.02487
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
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_004370.6(COL12A1):c.5225G>A (p.Arg1742His)
|
rs79830915
|
0.02025
|
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_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)
|
rs34846477
|
0.01603
|
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=)
|
rs36002196
|
0.01590
|
NM_001848.3(COL6A1):c.1524+15G>A
|
rs116000285
|
0.01582
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_004370.6(COL12A1):c.834T>G (p.Ala278=)
|
rs16886258
|
0.01455
|
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)
|
rs34767467
|
0.01428
|
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)
|
rs77790445
|
0.01425
|
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=)
|
rs116691242
|
0.01422
|
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_004370.6(COL12A1):c.8650-19T>A
|
rs79461746
|
0.01255
|
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_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu)
|
rs77094372
|
0.01163
|
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_004370.6(COL12A1):c.6198A>C (p.Pro2066=)
|
rs34619869
|
0.01132
|
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_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
|
rs34369939
|
0.00867
|
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_004370.6(COL12A1):c.5508G>A (p.Thr1836=)
|
rs77425231
|
0.00776
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln)
|
rs35059000
|
0.00775
|
NM_004370.6(COL12A1):c.6210+13C>T
|
rs139520272
|
0.00723
|
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_004370.6(COL12A1):c.2481G>A (p.Thr827=)
|
rs35170847
|
0.00506
|
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_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)
|
rs35292916
|
0.00501
|
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=)
|
rs80102965
|
0.00499
|
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_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
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_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)
|
rs34830422
|
0.00420
|
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)
|
rs77654847
|
0.00419
|
NM_001127898.4(CLCN5):c.316-17T>G
|
rs56117808
|
0.00404
|
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_004370.6(COL12A1):c.3651C>T (p.Thr1217=)
|
rs140319205
|
0.00348
|
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=)
|
rs114554195
|
0.00347
|
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)
|
rs113549828
|
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_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_004370.6(COL12A1):c.5874A>G (p.Pro1958=)
|
rs186035636
|
0.00283
|
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)
|
rs115511838
|
0.00278
|
NM_004370.6(COL12A1):c.6068-14T>A
|
rs189714891
|
0.00278
|
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_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)
|
rs139332405
|
0.00262
|
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn)
|
rs148065232
|
0.00261
|
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_004370.6(COL12A1):c.4691-12G>A
|
rs146472530
|
0.00243
|
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_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)
|
rs141517088
|
0.00224
|
NM_001849.4(COL6A2):c.1671+9C>T
|
rs186428044
|
0.00210
|
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_004370.6(COL12A1):c.5727C>T (p.Tyr1909=)
|
rs146146364
|
0.00173
|
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)
|
rs190501064
|
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_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.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
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.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
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_001848.3(COL6A1):c.1336-17G>A
|
rs185337381
|
0.00103
|
NM_004370.6(COL12A1):c.7355-9A>G
|
rs145346828
|
0.00103
|
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=)
|
rs371949188
|
0.00103
|
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_004370.6(COL12A1):c.8179-10A>G
|
rs142509363
|
0.00101
|
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=)
|
rs147199350
|
0.00096
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
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.2796G>A (p.Pro932=)
|
rs373274913
|
0.00086
|
NM_004370.6(COL12A1):c.8753-19G>A
|
rs185465645
|
0.00086
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
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_004370.6(COL12A1):c.2711-15T>C
|
rs74331327
|
0.00071
|
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=)
|
rs200230227
|
0.00071
|
NM_004370.6(COL12A1):c.997+14G>A
|
rs201998466
|
0.00071
|
NM_004370.6(COL12A1):c.8941+18C>T
|
rs368092763
|
0.00070
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00068
|
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln)
|
rs34438461
|
0.00067
|
NM_004370.6(COL12A1):c.190+14C>G
|
rs536848485
|
0.00065
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
NM_004369.4(COL6A3):c.6310-18C>T
|
rs112905665
|
0.00062
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser)
|
rs76646066
|
0.00057
|
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu)
|
rs74425496
|
0.00054
|
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
NM_001849.4(COL6A2):c.1969+17C>T
|
rs539735984
|
0.00048
|
NM_001849.4(COL6A2):c.928-9C>T
|
rs200571090
|
0.00048
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
|
rs147044263
|
0.00047
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
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_001849.4(COL6A2):c.2658C>T (p.Gly886=)
|
rs143168888
|
0.00034
|
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=)
|
rs202153313
|
0.00034
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn)
|
rs201567848
|
0.00034
|
NM_004370.6(COL12A1):c.8320-19T>C
|
rs369006332
|
0.00034
|
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)
|
rs190664941
|
0.00033
|
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=)
|
rs151234107
|
0.00033
|
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)
|
rs114596320
|
0.00032
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)
|
rs370397767
|
0.00029
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)
|
rs375966817
|
0.00027
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=)
|
rs190820180
|
0.00027
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
NM_004369.4(COL6A3):c.6592-16A>T
|
rs181698279
|
0.00026
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)
|
rs368321891
|
0.00026
|
NM_001848.3(COL6A1):c.1776+13C>T
|
rs201734661
|
0.00025
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
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_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)
|
rs373739940
|
0.00024
|
NM_004370.6(COL12A1):c.6068-17G>T
|
rs200347973
|
0.00024
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
NM_001849.4(COL6A2):c.2422+16C>T
|
rs372990656
|
0.00021
|
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)
|
rs374134397
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
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_004369.4(COL6A3):c.1065C>T (p.Ala355=)
|
rs115155458
|
0.00019
|
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)
|
rs368307185
|
0.00018
|
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)
|
rs777671647
|
0.00017
|
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)
|
rs115757876
|
0.00017
|
NM_004370.6(COL12A1):c.7354+10T>A
|
rs199945254
|
0.00017
|
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val)
|
rs117340427
|
0.00016
|
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)
|
rs200443479
|
0.00016
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)
|
rs768052470
|
0.00015
|
NM_004370.6(COL12A1):c.66G>A (p.Glu22=)
|
rs369544130
|
0.00015
|
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)
|
rs200901687
|
0.00015
|
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.3078G>A (p.Ala1026=)
|
rs190043330
|
0.00014
|
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val)
|
rs376665722
|
0.00014
|
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)
|
rs61729841
|
0.00014
|
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met)
|
rs758758266
|
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.6064-6C>T
|
rs202091342
|
0.00013
|
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln)
|
rs369317566
|
0.00013
|
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)
|
rs370246962
|
0.00013
|
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=)
|
rs180961776
|
0.00013
|
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.4066G>A (p.Ala1356Thr)
|
rs143459232
|
0.00012
|
NM_001848.3(COL6A1):c.2435-18G>A
|
rs550691133
|
0.00011
|
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)
|
rs371763977
|
0.00011
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=)
|
rs151295731
|
0.00011
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)
|
rs376780810
|
0.00011
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)
|
rs370632963
|
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.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
NM_004370.6(COL12A1):c.732G>A (p.Val244=)
|
rs200141559
|
0.00010
|
NM_001848.3(COL6A1):c.227+15C>T
|
rs199730779
|
0.00009
|
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)
|
rs377586358
|
0.00009
|
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)
|
rs199867193
|
0.00009
|
NM_001848.3(COL6A1):c.894G>A (p.Gln298=)
|
rs371989252
|
0.00009
|
NM_001849.4(COL6A2):c.138C>T (p.His46=)
|
rs201753549
|
0.00009
|
NM_001849.4(COL6A2):c.2671G>A (p.Ala891Thr)
|
rs754110764
|
0.00009
|
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)
|
rs780115806
|
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.5020G>A (p.Asp1674Asn)
|
rs778940391
|
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.9059A>G (p.Tyr3020Cys)
|
rs371006546
|
0.00009
|
NM_004369.4(COL6A3):c.91+15C>T
|
rs117521066
|
0.00009
|
NM_004370.6(COL12A1):c.8416-14A>G
|
rs202033555
|
0.00009
|
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)
|
rs373846012
|
0.00008
|
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)
|
rs375022162
|
0.00008
|
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile)
|
rs137910388
|
0.00008
|
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
|
rs372247515
|
0.00008
|
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.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=)
|
rs375430758
|
0.00007
|
NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn)
|
rs770387211
|
0.00007
|
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
|
rs531282669
|
0.00007
|
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val)
|
rs115839474
|
0.00007
|
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln)
|
rs370549168
|
0.00007
|
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp)
|
rs755375448
|
0.00006
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)
|
rs189623561
|
0.00006
|
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)
|
rs758242849
|
0.00006
|
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met)
|
rs373383488
|
0.00006
|
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)
|
rs537763400
|
0.00006
|
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)
|
rs746298580
|
0.00006
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00006
|
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val)
|
rs571641824
|
0.00006
|
NM_001848.3(COL6A1):c.789C>T (p.Gly263=)
|
rs148364156
|
0.00006
|
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)
|
rs188184732
|
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.2245G>A (p.Asp749Asn)
|
rs372913372
|
0.00006
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
0.00006
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
NM_001849.4(COL6A2):c.464A>G (p.His155Arg)
|
rs148187245
|
0.00006
|
NM_001849.4(COL6A2):c.698G>A (p.Arg233His)
|
rs146742517
|
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.2302C>T (p.Arg768Cys)
|
rs200722892
|
0.00006
|
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr)
|
rs754847515
|
0.00006
|
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp)
|
rs113755498
|
0.00006
|
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr)
|
rs767499336
|
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.5975T>C (p.Met1992Thr)
|
rs375613015
|
0.00006
|
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val)
|
rs114806654
|
0.00006
|
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)
|
rs367635298
|
0.00006
|
NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg)
|
rs568632361
|
0.00006
|
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.2799C>T (p.Gly933=)
|
rs773470822
|
0.00005
|
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)
|
rs751688085
|
0.00005
|
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile)
|
rs541785316
|
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.5128G>A (p.Val1710Ile)
|
rs773631759
|
0.00005
|
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln)
|
rs760717002
|
0.00005
|
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)
|
rs777454204
|
0.00005
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)
|
rs376807461
|
0.00004
|
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)
|
rs760815168
|
0.00004
|
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)
|
rs754384963
|
0.00004
|
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys)
|
rs552634753
|
0.00004
|
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)
|
rs759442615
|
0.00004
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)
|
rs753759904
|
0.00004
|
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)
|
rs771987341
|
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.3013C>T (p.Arg1005Cys)
|
rs780139552
|
0.00004
|
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys)
|
rs376764211
|
0.00004
|
NM_001848.3(COL6A1):c.510G>A (p.Gly170=)
|
rs373970248
|
0.00004
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
|
rs757791812
|
0.00004
|
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=)
|
rs189341312
|
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.2524G>A (p.Glu842Lys)
|
rs571051982
|
0.00004
|
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=)
|
rs766367190
|
0.00004
|
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His)
|
rs764614021
|
0.00004
|
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu)
|
rs138281601
|
0.00004
|
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala)
|
rs766458324
|
0.00004
|
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=)
|
rs200562443
|
0.00004
|
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=)
|
rs201942049
|
0.00004
|
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg)
|
rs141754714
|
0.00004
|
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=)
|
rs747802067
|
0.00004
|
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)
|
rs1156524068
|
0.00004
|
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)
|
rs781624176
|
0.00004
|
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)
|
rs200478135
|
0.00004
|
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln)
|
rs376715966
|
0.00004
|
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)
|
rs373680762
|
0.00004
|
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met)
|
rs770436761
|
0.00004
|
NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys)
|
rs138694883
|
0.00004
|
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=)
|
rs572531941
|
0.00004
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)
|
rs775456285
|
0.00004
|
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)
|
rs371112796
|
0.00004
|
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)
|
rs553575841
|
0.00004
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)
|
rs398123634
|
0.00003
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val)
|
rs748997622
|
0.00003
|
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
|
rs142881632
|
0.00003
|
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser)
|
rs566453317
|
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.2951G>A (p.Arg984His)
|
rs746877994
|
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.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_001849.4(COL6A2):c.1410G>A (p.Leu470=)
|
rs145012001
|
0.00003
|
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)
|
rs747184649
|
0.00003
|
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile)
|
rs755822013
|
0.00003
|
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His)
|
rs753651742
|
0.00003
|
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn)
|
rs544229002
|
0.00003
|
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala)
|
rs747449879
|
0.00003
|
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu)
|
rs752785838
|
0.00003
|
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)
|
rs778288464
|
0.00003
|
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)
|
rs375640580
|
0.00003
|
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu)
|
rs754480145
|
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.8744C>T (p.Ala2915Val)
|
rs751532649
|
0.00003
|
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg)
|
rs774159573
|
0.00003
|
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile)
|
rs564072783
|
0.00002
|
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
|
rs774361880
|
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.2569G>A (p.Glu857Lys)
|
rs570688674
|
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.2890C>T (p.Arg964Trp)
|
rs375007666
|
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.2953G>A (p.Val985Ile)
|
rs781394145
|
0.00002
|
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
|
rs369764291
|
0.00002
|
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)
|
rs368580280
|
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.623C>T (p.Thr208Met)
|
rs372199631
|
0.00002
|
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)
|
rs950115468
|
0.00002
|
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)
|
rs767205402
|
0.00002
|
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met)
|
rs145381639
|
0.00002
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys)
|
rs147546808
|
0.00002
|
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)
|
rs751952844
|
0.00002
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile)
|
rs202122047
|
0.00002
|
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)
|
rs576798969
|
0.00002
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val)
|
rs376501805
|
0.00002
|
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)
|
rs772077690
|
0.00002
|
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)
|
rs536607503
|
0.00002
|
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu)
|
rs758774990
|
0.00002
|
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=)
|
rs761187970
|
0.00002
|
NM_004370.6(COL12A1):c.2437+13T>C
|
rs545025813
|
0.00002
|
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu)
|
rs746386684
|
0.00001
|
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)
|
rs765826390
|
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.1402G>A (p.Glu468Lys)
|
rs1467389704
|
0.00001
|
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln)
|
rs776914710
|
0.00001
|
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)
|
rs140517685
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
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.1912G>A (p.Val638Ile)
|
rs749790625
|
0.00001
|
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met)
|
rs765641686
|
0.00001
|
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)
|
rs774657642
|
0.00001
|
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser)
|
rs370546340
|
0.00001
|
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)
|
rs762499313
|
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.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.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)
|
rs767414809
|
0.00001
|
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
|
rs759880017
|
0.00001
|
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
|
rs749929221
|
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.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.776C>T (p.Pro259Leu)
|
rs767905829
|
0.00001
|
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)
|
rs752259110
|
0.00001
|
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
|
rs1482699064
|
0.00001
|
NM_001848.3(COL6A1):c.920G>A (p.Arg307His)
|
rs145838277
|
0.00001
|
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr)
|
rs756242788
|
0.00001
|
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp)
|
rs200720222
|
0.00001
|
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=)
|
rs574912582
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
0.00001
|
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)
|
rs373915980
|
0.00001
|
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val)
|
rs570869775
|
0.00001
|
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met)
|
rs201147199
|
0.00001
|
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His)
|
rs201313985
|
0.00001
|
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg)
|
rs532433812
|
0.00001
|
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp)
|
rs751115326
|
0.00001
|
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr)
|
rs749100905
|
0.00001
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu)
|
rs112178393
|
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.9180C>G (p.Cys3060Trp)
|
rs376939353
|
0.00001
|
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=)
|
rs578252411
|
0.00001
|
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala)
|
rs200828190
|
0.00001
|
NM_004370.6(COL12A1):c.2164+18C>A
|
rs183023584
|
0.00001
|
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)
|
rs778415707
|
0.00001
|
NM_004370.6(COL12A1):c.5795-5C>T
|
rs768037406
|
0.00001
|
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=)
|
rs534462036
|
0.00001
|
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)
|
rs374671225
|
0.00001
|
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=)
|
rs202239067
|
0.00001
|
NM_001848.3(COL6A1):c.1002+21_1002+40dup
|
|
|
NM_001848.3(COL6A1):c.1003-15del
|
rs769487412
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1120-13del
|
rs766658998
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
|
|
|
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.1506G>C (p.Pro502=)
|
rs139987124
|
|
NM_001848.3(COL6A1):c.1524+19G>C
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
|
|
|
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
|
|
|
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
|
|
|
NM_001848.3(COL6A1):c.1740+17G>A
|
rs200299050
|
|
NM_001848.3(COL6A1):c.1740+18G>T
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1823-13C>T
|
rs571173076
|
|
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
|
|
|
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=)
|
rs375448277
|
|
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
|
rs771702139
|
|
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)
|
rs138312247
|
|
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
|
|
|
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
|
|
|
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
|
|
|
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
|
|
|
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
|
|
|
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
|
|
|
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC
|
rs1569519143
|
|
NM_001848.3(COL6A1):c.2434+15_2434+54del
|
rs1064795349
|
|
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
|
|
|
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
|
|
|
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
|
|
|
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
|
|
|
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
|
|
|
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
|
|
|
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)
|
rs544927344
|
|
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.267C>T (p.Gly89=)
|
|
|
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
|
|
|
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn)
|
rs757422397
|
|
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
|
|
|
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.27C>G (p.Pro9=)
|
|
|
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
|
|
|
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>T (p.Ala958Val)
|
|
|
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
|
rs138652066
|
|
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)
|
rs376999117
|
|
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
|
|
|
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.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.429-19G>A
|
rs741956
|
|
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
|
|
|
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
|
|
|
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
|
|
|
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.629G>A (p.Arg210Gln)
|
|
|
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
|
|
|
NM_001848.3(COL6A1):c.738+24del
|
|
|
NM_001848.3(COL6A1):c.739-11del
|
rs573196191
|
|
NM_001848.3(COL6A1):c.759+15del
|
|
|
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro)
|
rs145473829
|
|
NM_001848.3(COL6A1):c.903+13C>A
|
rs199632006
|
|
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
|
|
|
NM_001849.4(COL6A2):c.115+17del
|
|
|
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=)
|
rs558981930
|
|
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1375G>A (p.Val459Ile)
|
|
|
NM_001849.4(COL6A2):c.1395+7del
|
|
|
NM_001849.4(COL6A2):c.1459-8G>A
|
rs546206539
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
|
|
|
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=)
|
|
|
NM_001849.4(COL6A2):c.1672-12G>C
|
|
|
NM_001849.4(COL6A2):c.1672-24C>G
|
rs3746995
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
NM_001849.4(COL6A2):c.1817-3del
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1817-4_1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1837G>A (p.Ala613Thr)
|
rs146949791
|
|
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=)
|
|
|
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His)
|
rs376527297
|
|
NM_001849.4(COL6A2):c.2461+11G>C
|
|
|
NM_001849.4(COL6A2):c.2631G>A (p.Val877=)
|
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.901-20CT[2]
|
rs563354608
|
|
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys)
|
|
|
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn)
|
rs35914491
|
|
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=)
|
|
|
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=)
|
|
|
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu)
|
|
|
NM_004369.4(COL6A3):c.1898-17dup
|
rs750049890
|
|
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln)
|
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
|
|
|
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
|
rs543253703
|
|
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=)
|
rs769667715
|
|
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=)
|
|
|
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=)
|
|
|
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp)
|
rs140330124
|
|
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=)
|
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)
|
|
|
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)
|
rs371631320
|
|
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser)
|
|
|
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys)
|
rs143389941
|
|
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
|
|
|
NM_004369.4(COL6A3):c.6063+12_6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.6931-10dup
|
rs2106328779
|
|
NM_004369.4(COL6A3):c.7093-5dup
|
rs751423264
|
|
NM_004369.4(COL6A3):c.710-20dup
|
rs759721812
|
|
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=)
|
|
|
NM_004369.4(COL6A3):c.7163-5del
|
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
|
|
|
NM_004369.4(COL6A3):c.8465-7del
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8465-7dup
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)
|
rs36104025
|
|
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2])
|
rs746284792
|
|
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8966-19G>T
|
rs182520636
|
|
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)
|
|
|
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly)
|
rs565996170
|
|
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr)
|
rs767249760
|
|
NM_004369.4(COL6A3):c.92-5dup
|
rs1476890625
|
|
NM_004369.4(COL6A3):c.92-6_92-5del
|
rs1476890625
|
|
NM_004369.4(COL6A3):c.927G>A (p.Val309=)
|
|
|
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
|
|
|
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
|
|
|
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
|
|
|
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
|
|
|
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
|
|
|
NM_004370.6(COL12A1):c.1892-19_1892-18dup
|
rs11347601
|
|
NM_004370.6(COL12A1):c.1892-19dup
|
rs11347601
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insT
|
rs752652515
|
|
NM_004370.6(COL12A1):c.1892-7del
|
rs11347601
|
|
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)
|
rs200315815
|
|
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
|
|
|
NM_004370.6(COL12A1):c.2438-8dup
|
rs1032205753
|
|
NM_004370.6(COL12A1):c.2711-15dup
|
|
|
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
|
|
|
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
|
|
|
NM_004370.6(COL12A1):c.334+18del
|
rs2149478980
|
|
NM_004370.6(COL12A1):c.335-8del
|
rs2149478420
|
|
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
|
|
|
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
|
|
|
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
|
|
|
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)
|
rs558383133
|
|
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
|
|
|
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
|
|
|
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val)
|
rs769221057
|
|
NM_004370.6(COL12A1):c.5394+10dup
|
|
|
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
|
|
|
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=)
|
rs35551395
|
|
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
|
|
|
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
|
|
|
NM_004370.6(COL12A1):c.7698-19_7698-15del
|
rs141102808
|
|
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
|
|
|
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
|
|
|
NM_004370.6(COL12A1):c.824-10dup
|
|
|
NM_004370.6(COL12A1):c.8319+13del
|
|
|
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
|
|
|
NM_004370.6(COL12A1):c.8469+9G>T
|
|
|
NM_004370.6(COL12A1):c.8685+18dup
|
rs763196298
|
|
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
|
|
|
NM_004370.6(COL12A1):c.9010+15A>G
|
|
|
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
|
|
|
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
|
|
|
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)
|
|
|