ClinVar Miner

List of variants reported as benign for collagen 6-related myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 398
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.*260A>G rs1053331 0.88428
NM_001848.3(COL6A1):c.*419A>G rs9254 0.88359
NM_001848.3(COL6A1):c.2434+15A>G rs2236485 0.87616
NM_001848.3(COL6A1):c.428+14A>G rs3746993 0.87078
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_004369.4(COL6A3):c.*665G>T rs1050785 0.65670
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
NM_001848.3(COL6A1):c.-5C>G rs7671 0.46506
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_004369.4(COL6A3):c.*7G>C rs4663722 0.14594
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.*606A>T rs7436 0.10041
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_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
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_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) rs34904623 0.03265
NM_001848.3(COL6A1):c.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_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_001848.3(COL6A1):c.*379C>A rs138073264 0.02542
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.02172
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
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_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.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_001848.3(COL6A1):c.*87C>T rs115289817 0.01156
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
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_001848.3(COL6A1):c.*294G>A rs112057581 0.01013
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_001849.4(COL6A2):c.1672-12G>A rs113857622 0.00860
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00775
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_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_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_004369.4(COL6A3):c.*663T>G rs184900191 0.00488
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_004369.4(COL6A3):c.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_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) rs112382351 0.00388
NM_004369.4(COL6A3):c.6211-3C>T rs139622600 0.00387
NM_001849.4(COL6A2):c.2886C>T (p.His962=) rs115970356 0.00365
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=) rs113961575 0.00363
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=) rs112040282 0.00360
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
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_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_001848.3(COL6A1):c.*575A>G rs183666840 0.00247
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) rs140027285 0.00229
NM_001848.3(COL6A1):c.*441G>A rs149531381 0.00228
NM_001848.3(COL6A1):c.*797C>T rs576240028 0.00224
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_001848.3(COL6A1):c.*887C>T rs142905348 0.00211
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00199
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=) rs113781746 0.00178
NM_001848.3(COL6A1):c.1336-15C>T rs201003020 0.00174
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) rs138312213 0.00163
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) rs112197239 0.00156
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) rs34978064 0.00147
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=) rs148439285 0.00135
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) rs146662894 0.00112
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_004369.4(COL6A3):c.-147G>A rs113567254 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_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_001849.4(COL6A2):c.2423-11C>T rs199952790 0.00096
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_001848.3(COL6A1):c.*302G>T rs538359005 0.00093
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_004369.4(COL6A3):c.91+11G>C rs372744024 0.00089
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_004369.4(COL6A3):c.-164T>G rs78466992 0.00078
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00068
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00065
NM_001848.3(COL6A1):c.-40C>T rs371842589 0.00064
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977 0.00064
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346 0.00058
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser) rs76646066 0.00057
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496 0.00054
NM_001848.3(COL6A1):c.997G>A (p.Val333Met) rs201525908 0.00052
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met) rs370446082 0.00051
NM_004369.4(COL6A3):c.9494-10C>T rs184617787 0.00050
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=) rs144249704 0.00044
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 0.00043
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=) rs148713779 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_001848.3(COL6A1):c.-65C>G rs535807983 0.00037
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr) rs183994910 0.00036
NM_001849.4(COL6A2):c.*106G>A rs185393384 0.00036
NM_004369.4(COL6A3):c.8007C>T (p.His2669=) rs528369978 0.00035
NM_001849.3(COL6A2):c.*303G>A rs143059384 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00033
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr) rs114596320 0.00032
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) rs147537071 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) rs140441798 0.00030
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) rs114144694 0.00028
NM_001848.3(COL6A1):c.*145C>T rs183023506 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001849.4(COL6A2):c.2423-9C>G rs368725753 0.00026
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln) rs765276422 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00026
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) rs148821986 0.00026
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556 0.00024
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=) rs148630223 0.00021
NM_001848.3(COL6A1):c.958-10C>T rs200508160 0.00021
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174 0.00021
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=) rs200023632 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_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00018
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208 0.00017
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=) rs115757876 0.00017
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186 0.00016
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669 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.5652C>T (p.Thr1884=) rs200285455 0.00015
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) rs370719148 0.00014
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.542G>A (p.Arg181His) rs371640468 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu) rs370246962 0.00013
NM_001848.3(COL6A1):c.*729C>T rs201623355 0.00012
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=) rs148561616 0.00012
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198 0.00012
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017 0.00012
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00011
NM_001849.4(COL6A2):c.*45G>A rs552240091 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) rs183247300 0.00011
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His) rs376567898 0.00010
NM_001848.3(COL6A1):c.931-5C>T rs371841573 0.00010
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502 0.00010
NM_001849.4(COL6A2):c.446G>A (p.Arg149His) rs143891262 0.00010
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121 0.00010
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.5838+12C>A rs117734465 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu) rs113896755 0.00010
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00009
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013 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.466G>T (p.Asp156Tyr) rs199632952 0.00009
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590 0.00009
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn) rs115729513 0.00009
NM_004369.4(COL6A3):c.91+15C>T rs117521066 0.00009
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr) rs375022162 0.00008
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu) rs572969883 0.00008
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162 0.00007
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr) rs568865339 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00007
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=) rs375430758 0.00007
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658 0.00006
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890 0.00006
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=) rs149910296 0.00006
NM_001848.3(COL6A1):c.261C>T (p.Asn87=) rs770671793 0.00006
NM_001849.4(COL6A2):c.*105C>T rs538537601 0.00006
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050 0.00006
NM_001849.4(COL6A2):c.2436G>A (p.Val812=) rs372745282 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=) rs139116075 0.00006
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met) rs145959270 0.00006
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu) rs547651808 0.00006
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys) rs114852262 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315 0.00006
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=) rs182068143 0.00005
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly) rs199680718 0.00005
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_001848.3(COL6A1):c.1741-13G>A rs201063714 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00004
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259 0.00004
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His) rs371441617 0.00004
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=) rs374952003 0.00004
NM_004369.4(COL6A3):c.6879+15C>T rs368631950 0.00004
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met) rs755178814 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028 0.00003
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu) rs757230924 0.00002
NM_001849.4(COL6A2):c.1117-14G>A rs768473305 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val) rs115327470 0.00002
NM_001848.3(COL6A1):c.1167A>C (p.Gly389=) rs779909820 0.00001
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=) rs540554122 0.00001
NM_001849.4(COL6A2):c.537G>A (p.Arg179=) rs762450920 0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) rs140510298 0.00001
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=) rs565366400 0.00001
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199 0.00001
NM_004369.4(COL6A3):c.6818G>C (p.Gly2273Ala) rs759832450 0.00001
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=) rs750552221 0.00001
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=) rs201460305 0.00001
NM_004369.4(COL6A3):c.9329-4A>T rs199800564 0.00001
NM_001848.3(COL6A1):c.*923G>A rs115463773
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.2886C>T (p.Ala962=) rs754524630
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His) rs376999117
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.903+13C>A rs199632006
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.*66C>G rs568256520
NM_001849.4(COL6A2):c.*88G>C rs369124688
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_004369.4(COL6A3):c.-115G>A rs539393683
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.4(COL6A3):c.5123A>G (p.Lys1708Arg) rs770936644
NM_004369.4(COL6A3):c.6063+13dup rs11385011
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) rs35879189
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly) rs565996170

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