ClinVar Miner

List of variants reported as benign for Bethlem myopathy

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 770
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HGVS dbSNP gnomAD frequency
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=)

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