ClinVar Miner

List of variants in gene COL6A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 412
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1003-61T>G rs1980981 0.99242
NM_001848.3(COL6A1):c.1776+188T>C rs8126900 0.92707
NM_001848.3(COL6A1):c.1776+164G>A rs73908116 0.91155
NM_001848.3(COL6A1):c.1776+141A>G rs8131632 0.90689
NM_001848.3(COL6A1):c.1525-60A>G rs3737437 0.89123
NM_001848.3(COL6A1):c.1611+217T>C rs4818811 0.88601
NM_001848.3(COL6A1):c.*260A>G rs1053331 0.88428
NM_001848.3(COL6A1):c.1822+88A>G rs7276782 0.88358
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
NM_001848.3(COL6A1):c.1822+185C>T rs7276374 0.87696
NM_001848.3(COL6A1):c.1823-196A>G rs7277078 0.87692
NM_001848.3(COL6A1):c.2434+15A>G rs2236485 0.87616
NM_001848.3(COL6A1):c.1777-229G>A rs35900642 0.87548
NM_001848.3(COL6A1):c.1776+91C>T rs8131101 0.87067
NM_001848.3(COL6A1):c.428+14A>G rs3746993 0.87022
NM_001848.3(COL6A1):c.859-19A>G rs2277814 0.86865
NM_001848.3(COL6A1):c.98-320dup rs72562356 0.85440
NM_001848.3(COL6A1):c.1336-152G>T rs2850174 0.78788
NM_001848.3(COL6A1):c.1776+174G>A rs8130255 0.76171
NM_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_001848.3(COL6A1):c.858+188G>C rs2277813 0.68598
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.59527
NM_001848.3(COL6A1):c.1461+18C>A rs2276254 0.58488
NM_001848.3(COL6A1):c.1399-129A>G rs11701583 0.54266
NM_001848.3(COL6A1):c.2434+88C>T rs2236488 0.51956
NM_001848.3(COL6A1):c.858+62C>T rs8129814 0.51873
NM_001848.3(COL6A1):c.1822+80G>A rs7283989 0.51414
NM_001848.3(COL6A1):c.2251-29C>T rs35796750 0.50435
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49819
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
NM_001848.3(COL6A1):c.-5C>G rs7671 0.47510
NM_001848.3(COL6A1):c.1462-36A>G rs2276255 0.35129
NM_001848.3(COL6A1):c.1675-55C>T rs4819179 0.34598
NM_001848.3(COL6A1):c.739-51C>T rs62215498 0.32957
NM_001848.3(COL6A1):c.2465-72C>T rs59769541 0.32398
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32217
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32026
NM_001848.3(COL6A1):c.1957-82C>T rs8132377 0.31888
NM_001848.3(COL6A1):c.1957-78G>A rs8131313 0.31839
NM_001848.3(COL6A1):c.2434+20G>A rs2236486 0.31361
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.31295
NM_001848.3(COL6A1):c.1822+42G>C rs13053065 0.31288
NM_001848.3(COL6A1):c.1740+145G>T rs13048481 0.31167
NM_001848.3(COL6A1):c.2434+55G>A rs2236487 0.30751
NM_001848.3(COL6A1):c.1813+137C>T rs4818812 0.30229
NM_001848.3(COL6A1):c.1822+231G>A rs11700421 0.30100
NM_001848.3(COL6A1):c.1335+116C>T rs2075893 0.29808
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_001848.3(COL6A1):c.1776+182_1776+183insA rs796136319 0.26238
NM_001848.3(COL6A1):c.1273-151G>A rs760438 0.23365
NM_001848.3(COL6A1):c.228-140G>C rs3746992 0.19381
NM_001848.3(COL6A1):c.1002+55T>C rs867427345 0.18016
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_001848.3(COL6A1):c.805-208G>C rs2839076 0.16329
NM_001848.3(COL6A1):c.1273-138G>A rs760439 0.15757
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15356
NM_001848.3(COL6A1):c.1576-78G>C rs11700844 0.14347
NM_001848.3(COL6A1):c.98-214C>T rs62215496 0.13850
NM_001848.3(COL6A1):c.1741-51G>A rs75434097 0.13563
NM_001848.3(COL6A1):c.1399-111A>G rs9979532 0.13398
NM_001848.3(COL6A1):c.1119+261G>A rs55726338 0.11959
NM_001848.3(COL6A1):c.1002+43_1002+50del rs774756547 0.09367
NM_001848.3(COL6A1):c.1002+50C>A rs11702079 0.09228
NM_001848.3(COL6A1):c.1119+209A>G rs111557860 0.09143
NM_001848.3(COL6A1):c.1119+189T>C rs10154031 0.08142
NM_001848.3(COL6A1):c.1002+77C>T rs536918340 0.06849
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.428+40G>A rs71324475 0.05102
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.04893
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001848.3(COL6A1):c.1398+120T>C rs116524164 0.03111
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
NM_001848.3(COL6A1):c.589-57G>A rs138916267 0.02687
NM_001848.3(COL6A1):c.804+163del rs66912886 0.02472
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02362
NM_001848.3(COL6A1):c.2435-78G>A rs76087328 0.02317
NM_001848.3(COL6A1):c.1398+28G>A rs114600249 0.02222
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.01999
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.1399-246C>T rs115807593 0.01747
NM_001848.3(COL6A1):c.1776+249_1776+250insAA rs1569518898 0.01745
NM_001848.3(COL6A1):c.1335+185T>C rs116133651 0.01710
NM_001848.3(COL6A1):c.1524+15G>A rs116000285 0.01582
NM_001848.3(COL6A1):c.1814-67_1814-66insG rs145985004 0.01509
NM_001848.3(COL6A1):c.1524+112G>A rs139252296 0.01492
NM_001848.3(COL6A1):c.859-213G>T rs149709694 0.01452
NM_001848.3(COL6A1):c.428+131C>T rs111272310 0.01367
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01279
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01202
NM_001848.3(COL6A1):c.717+32C>T rs114454809 0.01179
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01135
NM_001848.3(COL6A1):c.1003-149C>T rs146559275 0.01133
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.01116
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01100
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01084
NM_001848.3(COL6A1):c.*87C>T rs115289817 0.01071
NM_001848.3(COL6A1):c.1335+164G>A rs143550568 0.01034
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01028
NM_001848.3(COL6A1):c.*294G>A rs112057581 0.01013
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_001848.3(COL6A1):c.1524+176C>A rs9976436 0.00946
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_001848.3(COL6A1):c.429-321G>A rs73374779 0.00915
NM_001848.3(COL6A1):c.227+239C>T rs116551259 0.00880
NM_001848.3(COL6A1):c.1336-184C>T rs139314681 0.00851
NM_001848.3(COL6A1):c.805-36G>A rs202231424 0.00830
NM_001848.3(COL6A1):c.1822+70C>T rs137917255 0.00783
NM_001848.3(COL6A1):c.228-57G>A rs79487056 0.00782
NM_001848.2(COL6A1):c.-368C>T rs188909662 0.00757
NM_001848.3(COL6A1):c.1823-183C>T rs551989316 0.00736
NM_001848.3(COL6A1):c.1612-10G>A rs141892165 0.00714
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00709
NM_001848.3(COL6A1):c.1182+20C>T rs7275706 0.00705
NM_001848.3(COL6A1):c.428+253A>G rs28373239 0.00705
NM_001848.3(COL6A1):c.958-38C>T rs114745673 0.00700
NM_001848.3(COL6A1):c.1398+171G>A rs114591899 0.00684
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_001848.3(COL6A1):c.429-184A>C rs9983909 0.00663
NM_001848.3(COL6A1):c.429-30C>T rs190029634 0.00568
NM_001848.3(COL6A1):c.2434+117G>A rs148827769 0.00560
NM_001848.3(COL6A1):c.429-95G>A rs138191621 0.00556
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00538
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001848.3(COL6A1):c.589-53C>A rs149391064 0.00525
NM_001848.3(COL6A1):c.2435-132C>T rs117583870 0.00523
NM_001848.3(COL6A1):c.1741-137C>T rs8130726 0.00511
NM_001848.3(COL6A1):c.1399-210C>T rs146034711 0.00503
NM_001848.3(COL6A1):c.228-151C>G rs184515573 0.00500
NM_001848.3(COL6A1):c.777G>A (p.Pro259=) rs61735854 0.00491
NM_001848.3(COL6A1):c.1776+224_1776+225insA rs1569518881 0.00490
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_001848.3(COL6A1):c.1272+98T>C rs150780004 0.00426
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_001848.3(COL6A1):c.930+30T>C rs148909683 0.00399
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00394
NM_001848.3(COL6A1):c.1813+25T>G rs191946565 0.00394
NM_001848.3(COL6A1):c.1957-199G>A rs184597057 0.00379
NM_001848.3(COL6A1):c.1957-284A>G rs142763700 0.00369
NM_001848.3(COL6A1):c.1814-53G>T rs370649253 0.00365
NM_001848.3(COL6A1):c.1525-74C>A rs147683603 0.00364
NM_001848.3(COL6A1):c.1740+156C>T rs578072539 0.00357
NM_001848.3(COL6A1):c.2465-78C>T rs372700572 0.00357
NM_001848.3(COL6A1):c.429-276G>A rs113990069 0.00354
NM_001848.3(COL6A1):c.1398+236C>T rs182762238 0.00351
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_001848.3(COL6A1):c.2435-129C>T rs376896931 0.00338
NM_001848.3(COL6A1):c.1335+139G>A rs536513841 0.00332
NM_001848.3(COL6A1):c.1675-40G>A rs185926965 0.00329
NM_001848.3(COL6A1):c.1956+286T>G rs148511101 0.00324
NM_001848.3(COL6A1):c.2435-165G>A rs373480489 0.00321
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00305
NM_001848.3(COL6A1):c.2465-61C>T rs367659906 0.00302
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00295
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00290
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00287
NC_000021.9:g.45981727G>A rs538198495 0.00219
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_001848.3(COL6A1):c.1336-15C>T rs201003020 0.00174
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_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
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.2866G>A (p.Glu956Lys) rs149534094 0.00143
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=) rs182425338 0.00133
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=) rs143695871 0.00132
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=) rs148439285 0.00130
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) rs146662894 0.00112
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=) rs141620374 0.00110
NM_001848.3(COL6A1):c.1336-17G>A rs185337381 0.00106
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00075
NM_001848.3(COL6A1):c.1461+34C>G rs571928860 0.00074
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00074
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858 0.00070
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00067
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00064
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.997G>A (p.Val333Met) rs201525908 0.00052
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=) rs144887329 0.00051
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=) rs369502543 0.00034
NM_001848.3(COL6A1):c.1675-16C>T rs200659458 0.00033
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00032
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.666C>T (p.Arg222=) rs372581026 0.00030
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=) rs143755280 0.00026
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=) rs200124802 0.00020
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957 0.00017
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890 0.00017
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185 0.00017
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val) rs777671647 0.00017
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=) rs150509473 0.00017
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647 0.00015
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=) rs190043330 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639 0.00013
NM_001848.3(COL6A1):c.227+15C>T rs199730779 0.00013
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met) rs371111712 0.00013
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608 0.00012
NM_001848.3(COL6A1):c.1462-19G>A rs191393017 0.00011
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His) rs376567898 0.00010
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00009
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met) rs374685631 0.00009
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00009
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu) rs199867193 0.00009
NM_001848.3(COL6A1):c.1462-8C>T rs199849694 0.00008
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001848.3(COL6A1):c.2192G>A (p.Arg731His) rs777293815 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp) rs368239109 0.00006
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658 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.717+4A>G rs762867111 0.00006
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp) rs755375448 0.00005
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00005
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580 0.00005
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys) rs780139552 0.00005
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00005
NM_001848.3(COL6A1):c.1119+13C>T rs199655304 0.00004
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963 0.00004
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=) rs377213930 0.00004
NM_001848.3(COL6A1):c.1957-17C>T rs370007363 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228 0.00004
NM_001848.3(COL6A1):c.329G>A (p.Arg110His) rs773139115 0.00004
NM_001848.3(COL6A1):c.510G>A (p.Gly170=) rs373970248 0.00004
NM_001848.3(COL6A1):c.588+9C>T rs776935888 0.00004
NM_001848.3(COL6A1):c.1272+11C>T rs371785147 0.00003
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=) rs867187980 0.00003
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1611+9G>A rs186975997 0.00003
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=) rs780032842 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00003
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser) rs763470078 0.00003
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met) rs781396484 0.00003
NM_001848.3(COL6A1):c.665G>A (p.Arg222His) rs780638665 0.00003
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737 0.00002
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00002
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=) rs139914666 0.00002
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=) rs569497612 0.00002
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn) rs149331149 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.589-6C>A rs1243211161 0.00002
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu) rs767905829 0.00002
NM_001848.3(COL6A1):c.859-18T>A rs398123641 0.00002
NM_001848.3(COL6A1):c.-1C>T rs377142360 0.00001
NM_001848.3(COL6A1):c.1236+14C>T rs372483312 0.00001
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336 0.00001
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp) rs753297152 0.00001
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln) rs776914710 0.00001
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00001
NM_001848.3(COL6A1):c.1630G>A (p.Gly544Ser) rs1064794846 0.00001
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln) rs2077854188 0.00001
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe) rs536370523 0.00001
NM_001848.3(COL6A1):c.2660A>G (p.Glu887Gly) rs794727581 0.00001
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val) rs760236780 0.00001
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val) rs766517983 0.00001
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile) rs375831680 0.00001
NM_001848.3(COL6A1):c.2789C>T (p.Ala930Val) rs1226087945 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.641C>T (p.Thr214Met) rs369123247 0.00001
NM_001848.3(COL6A1):c.911A>G (p.Lys304Arg) rs1064794736 0.00001
NC_000021.9:g.45981584G>C rs933667986
NC_000021.9:g.45981589G>C rs982382690
NC_000021.9:g.45981594T>C rs1203435796
NC_000021.9:g.45981599T>C rs1295578181
NC_000021.9:g.45981609C>A rs186342882
NM_001848.3(COL6A1):c.1002+145C>T rs78836670
NM_001848.3(COL6A1):c.1002+90del rs145398932
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1003-2del rs1556425835
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.3(COL6A1):c.1048G>A (p.Gly350Arg) rs1362441737
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1119+19del rs750949530
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1132G>C (p.Ala378Pro) rs1057518005
NM_001848.3(COL6A1):c.1267G>A (p.Glu423Lys) rs1064796958
NM_001848.3(COL6A1):c.1336-288G>A rs142493024
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.1399-175_1399-163del rs58559163
NM_001848.3(COL6A1):c.1399-272_1399-210del rs1569518630
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1461+41dup rs3216137
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1524+19G>A rs2276256
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1612-80dup rs141212516
NM_001848.3(COL6A1):c.1715G>A (p.Gly572Glu)
NM_001848.3(COL6A1):c.1720C>G (p.Arg574Gly) rs761678568
NM_001848.3(COL6A1):c.1761_1764dup (p.Pro589fs) rs1603593491
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln) rs759442615
NM_001848.3(COL6A1):c.1776+107dup rs11464071
NM_001848.3(COL6A1):c.1776+173_1776+174insAGATCATAGGGGGAACGTGTGA rs1189768702
NM_001848.3(COL6A1):c.1776+173_1776+174insAGATCATAGGGGGACGTGTGA rs1189768702
NM_001848.3(COL6A1):c.1776+198C>T rs8131227
NM_001848.3(COL6A1):c.1776+223_1776+224insA rs879057227
NM_001848.3(COL6A1):c.1777-282del rs1466813683
NM_001848.3(COL6A1):c.1777-282dup rs1466813683
NM_001848.3(COL6A1):c.1814-106_1814-90del rs58200969
NM_001848.3(COL6A1):c.1814-108_1814-92del rs200069109
NM_001848.3(COL6A1):c.1814-147_1814-140del rs139447078
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1822+45C>G rs7276098
NM_001848.3(COL6A1):c.1822+45C>T rs7276098
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1823-199G>T rs146010507
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=) rs1447613750
NM_001848.3(COL6A1):c.189G>T (p.Lys63Asn)
NM_001848.3(COL6A1):c.1931G>C (p.Arg644Pro) rs398123634
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del) rs2526349263
NM_001848.3(COL6A1):c.197_199del (p.Thr66del) rs2123460277
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala) rs771702139
NM_001848.3(COL6A1):c.2066+15C>A rs201407082
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.2213C>T (p.Thr738Ile) rs1064796728
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2250+19G>C rs1057521436
NM_001848.3(COL6A1):c.227+157_227+225dup rs2123460524
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=) rs761665024
NM_001848.3(COL6A1):c.2365G>C (p.Val789Leu) rs2077853945
NM_001848.3(COL6A1):c.2434+116_2434+156del rs1390650817
NM_001848.3(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.2464+70C>G rs2236489
NM_001848.3(COL6A1):c.2464+70C>T rs2236489
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr) rs1427066240
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser) rs544927344
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr) rs149331149
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser) rs150378645
NM_001848.3(COL6A1):c.2915T>C (p.Val972Ala) rs1131691418
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser) rs138652066
NM_001848.3(COL6A1):c.328C>G (p.Arg110Gly) rs757632221
NM_001848.3(COL6A1):c.406G>C (p.Gly136Arg)
NM_001848.3(COL6A1):c.423C>A (p.Leu141=) rs373486149
NM_001848.3(COL6A1):c.428+213AGAGAC[3] rs199643566
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.43T>C (p.Cys15Arg) rs2526305434
NM_001848.3(COL6A1):c.485del (p.Leu162fs)
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.590A>G (p.Glu197Gly) rs2123466535
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn) rs147612667
NM_001848.3(COL6A1):c.739-11del rs573196191
NM_001848.3(COL6A1):c.741C>A (p.Cys247Ter) rs1057522053
NM_001848.3(COL6A1):c.760-11C>T rs1556425140
NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg) rs762299598
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.804+139_804+162del rs1187271844
NM_001848.3(COL6A1):c.804+140del rs66929103
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp) rs1064793840
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.904-39A>T rs1569518138
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001848.3(COL6A1):c.930+20G>C rs765683206
NM_001848.3(COL6A1):c.931-103G>A rs73374789
NM_001848.3(COL6A1):c.931-198_931-165del rs771549110
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.3(COL6A1):c.957G>T (p.Lys319Asn) rs1057520625
NM_001848.3(COL6A1):c.97+167C>G rs529329294
NM_001848.3(COL6A1):c.97+222_97+226dup rs138847222
NM_001848.3(COL6A1):c.98-239C>G rs149338636

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