ClinVar Miner

List of variants in gene COL6A1 studied for Bethlem myopathy 1A

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1347
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
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_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_001848.3(COL6A1):c.1461+18C>A rs2276254 0.58488
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49659
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
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_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_001848.3(COL6A1):c.2434+20G>A rs2236486 0.31361
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 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_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.02172
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.1524+15G>A rs116000285 0.01582
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00775
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.1182+20C>T rs7275706 0.00705
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
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_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
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_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
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.1644C>T (p.Asp548=) rs182425338 0.00140
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=) rs148439285 0.00135
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=) rs143695871 0.00132
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
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 0.00103
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.350T>C (p.Val117Ala) rs138899581 0.00080
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00078
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_001848.3(COL6A1):c.984C>T (p.Asp328=) rs781038607 0.00072
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858 0.00070
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00068
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00065
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.993C>T (p.Asp331=) rs373948031 0.00057
NM_001848.3(COL6A1):c.1525-18G>A rs112502822 0.00054
NM_001848.3(COL6A1):c.1273-4T>C rs373909354 0.00053
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.738+14C>T rs374896651 0.00046
NM_001848.3(COL6A1):c.3002G>A (p.Ser1001Asn) rs756372387 0.00044
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His) rs186775751 0.00040
NM_001848.3(COL6A1):c.1776+11C>T rs376317834 0.00038
NM_001848.3(COL6A1):c.2464+11C>T rs202074876 0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr) rs183994910 0.00036
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.666C>T (p.Arg222=) rs372581026 0.00032
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.2067-6A>G rs113876477 0.00031
NM_001848.3(COL6A1):c.531C>T (p.Asn177=) rs767176038 0.00031
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile) rs375452881 0.00027
NM_001848.3(COL6A1):c.1003-10C>T rs182440627 0.00026
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=) rs143755280 0.00026
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001848.3(COL6A1):c.1776+13C>T rs201734661 0.00025
NM_001848.3(COL6A1):c.2694G>A (p.Thr898=) rs372931456 0.00025
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_001848.3(COL6A1):c.957+6C>T rs374926748 0.00025
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001848.3(COL6A1):c.2464+19G>A rs200297915 0.00023
NM_001848.3(COL6A1):c.1233C>T (p.Asp411=) rs140478280 0.00022
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=) rs148630223 0.00021
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001848.3(COL6A1):c.958-10C>T rs200508160 0.00021
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=) rs200124802 0.00020
NM_001848.3(COL6A1):c.2733C>T (p.Asn911=) rs144585693 0.00020
NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala) rs140735590 0.00019
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=) rs200023632 0.00019
NM_001848.3(COL6A1):c.759+16G>A rs373366336 0.00019
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185 0.00018
NM_001848.3(COL6A1):c.696C>T (p.Ile232=) rs139148709 0.00018
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val) rs777671647 0.00017
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=) rs150509473 0.00017
NM_001848.3(COL6A1):c.409C>G (p.Leu137Val) rs139648899 0.00017
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00016
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_001848.3(COL6A1):c.1680C>T (p.Asn560=) rs147210734 0.00016
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NM_001848.3(COL6A1):c.1957-4A>G rs184484842 0.00016
NM_001848.3(COL6A1):c.424G>C (p.Val142Leu) rs144282452 0.00016
NM_001848.3(COL6A1):c.429-8C>T rs768951384 0.00016
NM_001848.3(COL6A1):c.717+9C>T rs183868804 0.00016
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647 0.00015
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met) rs371111712 0.00015
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp) rs146622557 0.00014
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957 0.00014
NM_001848.3(COL6A1):c.2349G>T (p.Arg783=) rs373511343 0.00014
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met) rs200959957 0.00014
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=) rs190043330 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639 0.00013
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=) rs111451684 0.00013
NM_001848.3(COL6A1):c.594G>A (p.Pro198=) rs376592866 0.00013
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608 0.00012
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=) rs148561616 0.00012
NM_001848.3(COL6A1):c.1462-19G>A rs191393017 0.00011
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=) rs760768642 0.00011
NM_001848.3(COL6A1):c.2435-18G>A rs550691133 0.00011
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00011
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr) rs149392243 0.00011
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg) rs756141940 0.00011
NM_001848.3(COL6A1):c.624G>A (p.Thr208=) rs573282005 0.00011
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00011
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His) rs376567898 0.00010
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=) rs370632963 0.00010
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met) rs374685631 0.00010
NM_001848.3(COL6A1):c.2994C>T (p.Tyr998=) rs148405880 0.00010
NM_001848.3(COL6A1):c.705C>T (p.Ile235=) rs536786554 0.00010
NM_001848.3(COL6A1):c.931-5C>T rs371841573 0.00010
NM_001848.3(COL6A1):c.1092C>T (p.Pro364=) rs368088970 0.00009
NM_001848.3(COL6A1):c.1399-14C>G rs374784450 0.00009
NM_001848.3(COL6A1):c.227+11C>T rs371425947 0.00009
NM_001848.3(COL6A1):c.227+15C>T rs199730779 0.00009
NM_001848.3(COL6A1):c.2352C>T (p.Pro784=) rs377558756 0.00009
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=) rs771446601 0.00009
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln) rs377586358 0.00009
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg) rs370889024 0.00009
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu) rs199867193 0.00009
NM_001848.3(COL6A1):c.609C>T (p.Ile203=) rs369590506 0.00009
NM_001848.3(COL6A1):c.894G>A (p.Gln298=) rs371989252 0.00009
NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn) rs756884829 0.00008
NM_001848.3(COL6A1):c.1777-3C>T rs111263341 0.00008
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001848.3(COL6A1):c.474C>T (p.Asp158=) rs773280332 0.00008
NM_001848.3(COL6A1):c.589-13A>G rs201695574 0.00008
NM_001848.3(COL6A1):c.69G>A (p.Pro23=) rs149741299 0.00008
NM_001848.3(COL6A1):c.822G>A (p.Pro274=) rs886044503 0.00008
NM_001848.3(COL6A1):c.1612-5T>C rs371587579 0.00007
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001848.3(COL6A1):c.1777-16G>A rs199838622 0.00007
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln) rs764762208 0.00007
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp) rs777378283 0.00007
NM_001848.3(COL6A1):c.2465-7C>T rs376196793 0.00007
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162 0.00007
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr) rs568865339 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.759+20C>T rs555848716 0.00007
NM_001848.3(COL6A1):c.780G>A (p.Gly260=) rs143396975 0.00007
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784 0.00006
NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp) rs368239109 0.00006
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=) rs750717663 0.00006
NM_001848.3(COL6A1):c.1462-8C>T rs199849694 0.00006
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658 0.00006
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp) rs755375448 0.00006
NM_001848.3(COL6A1):c.1611+20C>T rs369940697 0.00006
NM_001848.3(COL6A1):c.1740+13G>T rs758377899 0.00006
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709 0.00006
NM_001848.3(COL6A1):c.1854C>T (p.Phe618=) rs372069776 0.00006
NM_001848.3(COL6A1):c.1855G>A (p.Val619Met) rs150938324 0.00006
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys) rs189623561 0.00006
NM_001848.3(COL6A1):c.2157G>A (p.Pro719=) rs377152990 0.00006
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His) rs758242849 0.00006
NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635 0.00006
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met) rs373383488 0.00006
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890 0.00006
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=) rs149910296 0.00006
NM_001848.3(COL6A1):c.2434+19G>A rs571644858 0.00006
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His) rs537763400 0.00006
NM_001848.3(COL6A1):c.261C>T (p.Asn87=) rs770671793 0.00006
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580 0.00006
NM_001848.3(COL6A1):c.2745C>T (p.Asp915=) rs751865624 0.00006
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_001848.3(COL6A1):c.2919C>T (p.Val973=) rs764490258 0.00006
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val) rs571641824 0.00006
NM_001848.3(COL6A1):c.357G>A (p.Ala119=) rs747037863 0.00006
NM_001848.3(COL6A1):c.588+19C>T rs775893001 0.00006
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys) rs749628937 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001848.3(COL6A1):c.739-5C>G rs369946755 0.00006
NM_001848.3(COL6A1):c.789C>T (p.Gly263=) rs148364156 0.00006
NM_001848.3(COL6A1):c.795C>T (p.Pro265=) rs370641081 0.00006
NM_001848.3(COL6A1):c.924G>C (p.Gly308=) rs374654116 0.00006
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=) rs182068143 0.00005
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser) rs756467809 0.00005
NM_001848.3(COL6A1):c.2343G>A (p.Gln781=) rs755487987 0.00005
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=) rs139018148 0.00005
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=) rs773470822 0.00005
NM_001848.3(COL6A1):c.429-20C>T rs779947824 0.00005
NM_001848.3(COL6A1):c.669C>T (p.Asp223=) rs552000247 0.00005
NM_001848.3(COL6A1):c.985G>A (p.Gly329Arg) rs200835287 0.00005
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser) rs11701912 0.00005
NM_001848.3(COL6A1):c.1119+13C>T rs199655304 0.00004
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=) rs148492687 0.00004
NM_001848.3(COL6A1):c.1236+5G>A rs376327142 0.00004
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281 0.00004
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met) rs376807461 0.00004
NM_001848.3(COL6A1):c.1336-12G>A rs746917431 0.00004
NM_001848.3(COL6A1):c.1336-18C>T rs201516559 0.00004
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124 0.00004
NM_001848.3(COL6A1):c.1458C>T (p.Ser486=) rs377137616 0.00004
NM_001848.3(COL6A1):c.1461+4A>G rs201372759 0.00004
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr) rs760815168 0.00004
NM_001848.3(COL6A1):c.1554C>T (p.Thr518=) rs9637170 0.00004
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1611+8C>T rs376055208 0.00004
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=) rs377213930 0.00004
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn) rs1372696070 0.00004
NM_001848.3(COL6A1):c.1675-15G>A rs763344899 0.00004
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys) rs552634753 0.00004
NM_001848.3(COL6A1):c.1741-13G>A rs201063714 0.00004
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu) rs759442615 0.00004
NM_001848.3(COL6A1):c.1814-8C>T rs777017599 0.00004
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001848.3(COL6A1):c.1957-17C>T rs370007363 0.00004
NM_001848.3(COL6A1):c.2080C>T (p.Leu694=) rs1336464401 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=) rs780032842 0.00004
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu) rs753759904 0.00004
NM_001848.3(COL6A1):c.228-17G>A rs528620355 0.00004
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=) rs772673965 0.00004
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys) rs771987341 0.00004
NM_001848.3(COL6A1):c.2561G>A (p.Arg854His) rs200732314 0.00004
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=) rs759989949 0.00004
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228 0.00004
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr) rs147716407 0.00004
NM_001848.3(COL6A1):c.2853G>A (p.Thr951=) rs890068806 0.00004
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=) rs369948305 0.00004
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys) rs780139552 0.00004
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys) rs376764211 0.00004
NM_001848.3(COL6A1):c.329G>A (p.Arg110His) rs773139115 0.00004
NM_001848.3(COL6A1):c.510G>A (p.Gly170=) rs373970248 0.00004
NM_001848.3(COL6A1):c.519G>A (p.Glu173=) rs146071423 0.00004
NM_001848.3(COL6A1):c.588+9C>T rs776935888 0.00004
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00004
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr) rs145473829 0.00004
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln) rs757791812 0.00004
NM_001848.3(COL6A1):c.903+4C>T rs200380846 0.00004
NM_001848.3(COL6A1):c.931-18C>T rs755738565 0.00004
NM_001848.3(COL6A1):c.96G>A (p.Gln32=) rs754988212 0.00004
NM_001848.3(COL6A1):c.1059C>T (p.Gly353=) rs371231107 0.00003
NM_001848.3(COL6A1):c.1093G>A (p.Gly365Ser) rs558291025 0.00003
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val) rs765631918 0.00003
NM_001848.3(COL6A1):c.1272+11C>T rs371785147 0.00003
NM_001848.3(COL6A1):c.1362G>A (p.Gln454=) rs762392600 0.00003
NM_001848.3(COL6A1):c.1399-8C>G rs749529856 0.00003
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu) rs398123632 0.00003
NM_001848.3(COL6A1):c.1521A>G (p.Glu507=) rs781233511 0.00003
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1539C>T (p.Pro513=) rs150834054 0.00003
NM_001848.3(COL6A1):c.1566C>T (p.Pro522=) rs753063150 0.00003
NM_001848.3(COL6A1):c.1647G>A (p.Glu549=) rs532756899 0.00003
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634 0.00003
NM_001848.3(COL6A1):c.1957-10G>A rs761863286 0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys) rs375318905 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val) rs748997622 0.00003
NM_001848.3(COL6A1):c.2019C>T (p.His673=) rs141424786 0.00003
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser) rs142881632 0.00003
NM_001848.3(COL6A1):c.2251-20G>A rs369894106 0.00003
NM_001848.3(COL6A1):c.2289C>A (p.Ile763=) rs751446262 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser) rs566453317 0.00003
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val) rs565089447 0.00003
NM_001848.3(COL6A1):c.262G>A (p.Ala88Thr) rs540429266 0.00003
NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn) rs763910773 0.00003
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys) rs886043011 0.00003
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr) rs771844518 0.00003
NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val) rs373070436 0.00003
NM_001848.3(COL6A1):c.2910C>T (p.Phe970=) rs759623301 0.00003
NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys) rs568039462 0.00003
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His) rs746877994 0.00003
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser) rs763470078 0.00003
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met) rs781396484 0.00003
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu) rs763049658 0.00003
NM_001848.3(COL6A1):c.378C>T (p.Gly126=) rs776619127 0.00003
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001848.3(COL6A1):c.471C>T (p.Thr157=) rs376650683 0.00003
NM_001848.3(COL6A1):c.665G>A (p.Arg222His) rs780638665 0.00003
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu) rs775946362 0.00003
NM_001848.3(COL6A1):c.706G>A (p.Val236Met) rs145269003 0.00003
NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu) rs748153811 0.00003
NM_001848.3(COL6A1):c.759+13C>T rs1250324207 0.00003
NM_001848.3(COL6A1):c.919C>T (p.Arg307Cys) rs780703597 0.00003
NM_001848.3(COL6A1):c.930+13C>T rs370271954 0.00003
NM_001848.3(COL6A1):c.951C>T (p.Gly317=) rs770350586 0.00003
NM_001848.3(COL6A1):c.1002+15A>T rs762495019 0.00002
NM_001848.3(COL6A1):c.1005G>T (p.Gly335=) rs765321809 0.00002
NM_001848.3(COL6A1):c.102C>T (p.Cys34=) rs373972331 0.00002
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe) rs1179596064 0.00002
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met) rs1404246917 0.00002
NM_001848.3(COL6A1):c.1227G>A (p.Ala409=) rs557250335 0.00002
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00002
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg) rs202109302 0.00002
NM_001848.3(COL6A1):c.1611+9G>A rs186975997 0.00002
NM_001848.3(COL6A1):c.1617G>A (p.Thr539=) rs753448235 0.00002
NM_001848.3(COL6A1):c.1668A>G (p.Gly556=) rs746081979 0.00002
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu) rs766478019 0.00002
NM_001848.3(COL6A1):c.1814-18T>C rs530360168 0.00002
NM_001848.3(COL6A1):c.1823-9C>T rs398123633 0.00002
NM_001848.3(COL6A1):c.1911C>T (p.Phe637=) rs552239546 0.00002
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile) rs564072783 0.00002
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=) rs139914666 0.00002
NM_001848.3(COL6A1):c.1944C>T (p.Asp648=) rs567731019 0.00002
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=) rs568596125 0.00002
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139 0.00002
NM_001848.3(COL6A1):c.2034C>T (p.Ser678=) rs750801808 0.00002
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln) rs774361880 0.00002
NM_001848.3(COL6A1):c.2259C>T (p.Ser753=) rs769069690 0.00002
NM_001848.3(COL6A1):c.2274C>T (p.Asp758=) rs150780079 0.00002
NM_001848.3(COL6A1):c.228-18C>T rs200537886 0.00002
NM_001848.3(COL6A1):c.2347C>T (p.Arg783Trp) rs779362329 0.00002
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp) rs767361934 0.00002
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr) rs143925936 0.00002
NM_001848.3(COL6A1):c.2464+12G>A rs757572847 0.00002
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser) rs780264446 0.00002
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp) rs794727582 0.00002
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00002
NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val) rs766944483 0.00002
NM_001848.3(COL6A1):c.2712C>T (p.Val904=) rs780582491 0.00002
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn) rs149331149 0.00002
NM_001848.3(COL6A1):c.2751C>T (p.Asn917=) rs767760988 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr) rs766416007 0.00002
NM_001848.3(COL6A1):c.2832T>C (p.Asp944=) rs779665693 0.00002
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp) rs375007666 0.00002
NM_001848.3(COL6A1):c.2901C>T (p.Ile967=) rs746750216 0.00002
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met) rs751999785 0.00002
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys) rs376061269 0.00002
NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val) rs758399765 0.00002
NM_001848.3(COL6A1):c.2952C>T (p.Arg984=) rs770653887 0.00002
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile) rs781394145 0.00002
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser) rs746046225 0.00002
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=) rs769881364 0.00002
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met) rs764765574 0.00002
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His) rs369764291 0.00002
NM_001848.3(COL6A1):c.312G>A (p.Thr104=) rs1364102125 0.00002
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser) rs368580280 0.00002
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn) rs1309822720 0.00002
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn) rs747665716 0.00002
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg) rs754667407 0.00002
NM_001848.3(COL6A1):c.556G>C (p.Val186Leu) rs886042409 0.00002
NM_001848.3(COL6A1):c.57G>A (p.Ala19=) rs1172820789 0.00002
NM_001848.3(COL6A1):c.588+14C>A rs983091594 0.00002
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val) rs886044481 0.00002
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met) rs372199631 0.00002
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp) rs950115468 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn) rs767205402 0.00002
NM_001848.3(COL6A1):c.759+11C>T rs746763159 0.00002
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu) rs757230924 0.00002
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313 0.00002
NM_001848.3(COL6A1):c.931-4G>A rs758332867 0.00002
NM_001848.3(COL6A1):c.958-9G>A rs375638855 0.00002
NM_001848.3(COL6A1):c.1002+6T>C rs13052179 0.00001
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe) rs756091850 0.00001
NM_001848.3(COL6A1):c.1044G>A (p.Ser348=) rs749001111 0.00001
NM_001848.3(COL6A1):c.1057-14C>T rs572427436 0.00001
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr) rs2077773578 0.00001
NM_001848.3(COL6A1):c.108G>T (p.Val36=) rs1259912974 0.00001
NM_001848.3(COL6A1):c.1107G>A (p.Leu369=) rs746451311 0.00001
NM_001848.3(COL6A1):c.1182+12C>T rs374319468 0.00001
NM_001848.3(COL6A1):c.1182+5G>C rs1473206283 0.00001
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu) rs746386684 0.00001
NM_001848.3(COL6A1):c.1191G>A (p.Pro397=) rs531640667 0.00001
NM_001848.3(COL6A1):c.1209C>T (p.Pro403=) rs763249073 0.00001
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val) rs765826390 0.00001
NM_001848.3(COL6A1):c.1236+14C>T rs372483312 0.00001
NM_001848.3(COL6A1):c.1236+3G>A rs968780030 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg) rs774032338 0.00001
NM_001848.3(COL6A1):c.1273-7C>T rs1478209508 0.00001
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=) rs1326051791 0.00001
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876 0.00001
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp) rs753297152 0.00001
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser) rs2077714741 0.00001
NM_001848.3(COL6A1):c.1330G>A (p.Asp444Asn) rs778234022 0.00001
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg) rs764235653 0.00001
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser) rs1235742792 0.00001
NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys) rs1467389704 0.00001
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln) rs776914710 0.00001
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu) rs779748438 0.00001
NM_001848.3(COL6A1):c.1462-15C>A rs1369365476 0.00001
NM_001848.3(COL6A1):c.1462-16T>G rs746367774 0.00001
NM_001848.3(COL6A1):c.1462-20C>T rs774637944 0.00001
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly) rs2077813854 0.00001
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=) rs776768334 0.00001
NM_001848.3(COL6A1):c.1525-9C>T rs768508076 0.00001
NM_001848.3(COL6A1):c.1575+4A>G rs1306019240 0.00001
NM_001848.3(COL6A1):c.1575+6T>C rs745511169 0.00001
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys) rs2077819024 0.00001
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser) rs771012175 0.00001
NM_001848.3(COL6A1):c.1597G>A (p.Ala533Thr) rs546480880 0.00001
NM_001848.3(COL6A1):c.1611+12C>T rs543297828 0.00001
NM_001848.3(COL6A1):c.162C>T (p.Pro54=) rs775062782 0.00001
NM_001848.3(COL6A1):c.1659G>A (p.Gly553=) rs746962599 0.00001
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001848.3(COL6A1):c.1675-10T>A rs570045560 0.00001
NM_001848.3(COL6A1):c.1675-19C>T rs372430900 0.00001
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn) rs140517685 0.00001
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=) rs763515261 0.00001
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys) rs887316220 0.00001
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=) rs371878987 0.00001
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385 0.00001
NM_001848.3(COL6A1):c.1740+3G>C rs1314703448 0.00001
NM_001848.3(COL6A1):c.1741-7C>T rs771621923 0.00001
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816 0.00001
NM_001848.3(COL6A1):c.1772C>T (p.Pro591Leu) rs1020480977 0.00001
NM_001848.3(COL6A1):c.1776+16T>G rs780222583 0.00001
NM_001848.3(COL6A1):c.1777-17C>T rs750950364 0.00001
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp) rs201365474 0.00001
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe) rs368925441 0.00001
NM_001848.3(COL6A1):c.1822+18G>A rs1187486319 0.00001
NM_001848.3(COL6A1):c.1823-15C>T rs747230596 0.00001
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser) rs760265069 0.00001
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr) rs200770631 0.00001
NM_001848.3(COL6A1):c.1839C>T (p.Pro613=) rs753486364 0.00001
NM_001848.3(COL6A1):c.186C>G (p.Val62=) rs1484725853 0.00001
NM_001848.3(COL6A1):c.1893C>T (p.Phe631=) rs374031718 0.00001
NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr) rs1237092252 0.00001
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu) rs886042572 0.00001
NM_001848.3(COL6A1):c.1912G>A (p.Val638Ile) rs749790625 0.00001
NM_001848.3(COL6A1):c.1956+16G>A rs755009917 0.00001
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=) rs750677675 0.00001
NM_001848.3(COL6A1):c.1957-16G>C rs373143020 0.00001
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=) rs121912937 0.00001
NM_001848.3(COL6A1):c.1978G>A (p.Ala660Thr) rs781341547 0.00001
NM_001848.3(COL6A1):c.2009T>C (p.Met670Thr) rs776241591 0.00001
NM_001848.3(COL6A1):c.2014G>A (p.Glu672Lys) rs765421411 0.00001
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056 0.00001
NM_001848.3(COL6A1):c.2067-18C>T rs201620721 0.00001
NM_001848.3(COL6A1):c.2070C>T (p.Ala690=) rs1421386259 0.00001
NM_001848.3(COL6A1):c.2097C>T (p.Gly699=) rs537366421 0.00001
NM_001848.3(COL6A1):c.2127C>T (p.Tyr709=) rs760039653 0.00001
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met) rs765641686 0.00001
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281 0.00001
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.2190G>A (p.Gly730=) rs777828224 0.00001
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala) rs765815035 0.00001
NM_001848.3(COL6A1):c.2241C>T (p.Pro747=) rs753778247 0.00001
NM_001848.3(COL6A1):c.2256C>A (p.Val752=) rs749698686 0.00001
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met) rs774657642 0.00001
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=) rs761665024 0.00001
NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro) rs754399146 0.00001
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser) rs370546340 0.00001
NM_001848.3(COL6A1):c.2361G>A (p.Ser787=) rs774817933 0.00001
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala) rs762499313 0.00001
NM_001848.3(COL6A1):c.2385G>A (p.Glu795=) rs774423958 0.00001
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser) rs750677189 0.00001
NM_001848.3(COL6A1):c.2421C>T (p.Ala807=) rs1472258951 0.00001
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232 0.00001
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe) rs536370523 0.00001
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter) rs1422385556 0.00001
NM_001848.3(COL6A1):c.2464+18C>T rs754626987 0.00001
NM_001848.3(COL6A1):c.2465-10C>T rs373158112 0.00001
NM_001848.3(COL6A1):c.2465-4G>A rs769559126 0.00001
NM_001848.3(COL6A1):c.2465-9G>A rs757270528 0.00001
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=) rs569497612 0.00001
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) rs751124572 0.00001
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=) rs1462765947 0.00001
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=) rs151306374 0.00001
NM_001848.3(COL6A1):c.2592G>A (p.Arg864=) rs766279884 0.00001
NM_001848.3(COL6A1):c.2602G>A (p.Ala868Thr) rs574295337 0.00001
NM_001848.3(COL6A1):c.2608G>A (p.Asp870Asn) rs746305862 0.00001
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met) rs573185206 0.00001
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=) rs540554122 0.00001
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=) rs372725624 0.00001
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00001
NM_001848.3(COL6A1):c.2693C>T (p.Thr898Met) rs752473048 0.00001
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val) rs766517983 0.00001
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile) rs375831680 0.00001
NM_001848.3(COL6A1):c.273G>A (p.Leu91=) rs759821375 0.00001
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys) rs779199061 0.00001
NM_001848.3(COL6A1):c.2784C>T (p.Arg928=) rs775569169 0.00001
NM_001848.3(COL6A1):c.2792C>T (p.Ser931Leu) rs768598525 0.00001
NM_001848.3(COL6A1):c.2841G>A (p.Ser947=) rs768757964 0.00001
NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys) rs759023976 0.00001
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly) rs370391371 0.00001
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln) rs794727580 0.00001
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser) rs1224432118 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg) rs751518356 0.00001
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val) rs767414809 0.00001
NM_001848.3(COL6A1):c.330C>T (p.Arg110=) rs564528164 0.00001
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val) rs759880017 0.00001
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro) rs2077725343 0.00001
NM_001848.3(COL6A1):c.366C>T (p.Tyr122=) rs770744511 0.00001
NM_001848.3(COL6A1):c.393C>T (p.Cys131=) rs1020779562 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001848.3(COL6A1):c.454T>C (p.Tyr152His) rs1286529045 0.00001
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys) rs749929221 0.00001
NM_001848.3(COL6A1):c.588+10G>A rs890926408 0.00001
NM_001848.3(COL6A1):c.588+12_588+13insA rs398123637 0.00001
NM_001848.3(COL6A1):c.589-20A>T rs954477080 0.00001
NM_001848.3(COL6A1):c.596G>A (p.Arg199His) rs201213605 0.00001
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243 0.00001
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met) rs1343618467 0.00001
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) rs192125814 0.00001
NM_001848.3(COL6A1):c.621C>A (p.His207Gln) rs866987981 0.00001
NM_001848.3(COL6A1):c.641C>T (p.Thr214Met) rs369123247 0.00001
NM_001848.3(COL6A1):c.642G>A (p.Thr214=) rs529325521 0.00001
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val) rs1177728735 0.00001
NM_001848.3(COL6A1):c.664C>T (p.Arg222Cys) rs560001473 0.00001
NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr) rs569642530 0.00001
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val) rs770597799 0.00001
NM_001848.3(COL6A1):c.697G>A (p.Asp233Asn) rs1259945808 0.00001
NM_001848.3(COL6A1):c.739-9C>T rs886057149 0.00001
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu) rs767905829 0.00001
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp) rs752259110 0.00001
NM_001848.3(COL6A1):c.813A>G (p.Arg271=) rs748184568 0.00001
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly) rs1482699064 0.00001
NM_001848.3(COL6A1):c.858+15G>A rs763432919 0.00001
NM_001848.3(COL6A1):c.859-16_859-15insG rs764606641 0.00001
NM_001848.3(COL6A1):c.876C>T (p.Leu292=) rs746362485 0.00001
NM_001848.3(COL6A1):c.880C>G (p.Pro294Ala) rs141572895 0.00001
NM_001848.3(COL6A1):c.903+5G>A rs759468291 0.00001
NM_001848.3(COL6A1):c.903+9C>A rs765060192 0.00001
NM_001848.3(COL6A1):c.904-11T>G rs766924874 0.00001
NM_001848.3(COL6A1):c.904-13G>A rs756720407 0.00001
NM_001848.3(COL6A1):c.920G>A (p.Arg307His) rs145838277 0.00001
NM_001848.3(COL6A1):c.930+14G>A rs766551754 0.00001
NM_001848.3(COL6A1):c.931-6C>A rs778657187 0.00001
NM_001848.3(COL6A1):c.957+7G>A rs764488809 0.00001
NM_001848.3(COL6A1):c.958-18C>T rs774698729 0.00001
NM_001848.3(COL6A1):c.97+19T>C rs559717823 0.00001
NC_000021.8:g.(?_47400663)_(47425963_?)dup
NC_000021.8:g.(?_47407403)_(47407578_?)del
NC_000021.8:g.(?_47407419)_(47408291_?)del
NC_000021.8:g.(?_47408988)_(47410346_?)del
NC_000021.8:g.(?_47410282)_(47410965_?)dup
NC_000021.8:g.(?_47410677)_(47410965_?)dup
NC_000021.8:g.(?_47417315)_(47423927_?)dup
NC_000021.8:g.(?_47422287)_(47423978_?)del
NC_000021.8:g.(?_47423046)_(47429562_?)del
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NC_000021.9:g.(?_45986526)_(45987654_?)del
NC_000021.9:g.(?_45989064)_(45989157_?)del
NM_001848.2(COL6A1):c.1568_1575+1dup rs2077817384
NM_001848.3(COL6A1):c.1002+11G>A
NM_001848.3(COL6A1):c.1002+13A>G
NM_001848.3(COL6A1):c.1002+13A>T rs1340467004
NM_001848.3(COL6A1):c.1002+14G>T rs775143867
NM_001848.3(COL6A1):c.1002+15A>C
NM_001848.3(COL6A1):c.1002+16T>C rs1569518214
NM_001848.3(COL6A1):c.1002+16T>G
NM_001848.3(COL6A1):c.1002+17A>C rs1343644341
NM_001848.3(COL6A1):c.1002+17A>G
NM_001848.3(COL6A1):c.1002+17A>T rs1343644341
NM_001848.3(COL6A1):c.1002+20A>C
NM_001848.3(COL6A1):c.1002+20A>G
NM_001848.3(COL6A1):c.1002+21_1002+40dup
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG rs1569518218
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA rs2077768137
NM_001848.3(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001848.3(COL6A1):c.1002+6_1002+89del
NM_001848.3(COL6A1):c.1002+6_1003-135del rs2123472135
NM_001848.3(COL6A1):c.1002+8G>A rs759134133
NM_001848.3(COL6A1):c.1002+9G>A
NM_001848.3(COL6A1):c.1003-10C>G rs182440627
NM_001848.3(COL6A1):c.1003-11C>T
NM_001848.3(COL6A1):c.1003-15del rs769487412
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1003-1G>T rs886043330
NM_001848.3(COL6A1):c.1003-2A>C rs797045477
NM_001848.3(COL6A1):c.1003-2A>G rs797045477
NM_001848.3(COL6A1):c.1003-2del rs1556425835
NM_001848.3(COL6A1):c.1003-3C>G rs1171069767
NM_001848.3(COL6A1):c.1003-4C>A
NM_001848.3(COL6A1):c.1003-8C>G
NM_001848.3(COL6A1):c.1005G>A (p.Gly335=)
NM_001848.3(COL6A1):c.1011G>C (p.Met337Ile)
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.3(COL6A1):c.1023C>T (p.Gly341=)
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del) rs398123630
NM_001848.3(COL6A1):c.1027_1056+76del rs2123473096
NM_001848.3(COL6A1):c.1029A>C (p.Pro343=) rs1556425843
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.3(COL6A1):c.1037A>G (p.Lys346Arg)
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp) rs142882745
NM_001848.3(COL6A1):c.1044G>C (p.Ser348=)
NM_001848.3(COL6A1):c.1047C>A (p.Pro349=) rs202227298
NM_001848.3(COL6A1):c.1047C>T (p.Pro349=) rs202227298
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1G>C rs398123631
NM_001848.3(COL6A1):c.1056+1G>T rs398123631
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1056+2T>C rs797044456
NM_001848.3(COL6A1):c.1056+2dup
NM_001848.3(COL6A1):c.1056+3A>C rs2077772542
NM_001848.3(COL6A1):c.1056+4A>C rs886043433
NM_001848.3(COL6A1):c.1056+4A>G rs886043433
NM_001848.3(COL6A1):c.1056+5G>A rs886044511
NM_001848.3(COL6A1):c.1056+5G>T rs886044511
NM_001848.3(COL6A1):c.1056+9C>G
NM_001848.3(COL6A1):c.1068A>T (p.Gly356=) rs1481098445
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr) rs762443936
NM_001848.3(COL6A1):c.106G>A (p.Val36Met)
NM_001848.3(COL6A1):c.1074T>C (p.Pro358=) rs2123473427
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr) rs1603589147
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu) rs2077774072
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln) rs144677931
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
NM_001848.3(COL6A1):c.1119+14G>A
NM_001848.3(COL6A1):c.1119+16C>T rs1370050036
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1120-12G>T
NM_001848.3(COL6A1):c.1120-13C>T
NM_001848.3(COL6A1):c.1120-13del rs766658998
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr) rs2123474648
NM_001848.3(COL6A1):c.1155A>G (p.Pro385=)
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1167A>G (p.Gly389=)
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
NM_001848.3(COL6A1):c.1182+16G>T rs2123474728
NM_001848.3(COL6A1):c.1182+17C>T
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=) rs1423443362
NM_001848.3(COL6A1):c.1183-15C>T
NM_001848.3(COL6A1):c.1183-18A>C
NM_001848.3(COL6A1):c.1191G>C (p.Pro397=) rs531640667
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr) rs983326119
NM_001848.3(COL6A1):c.1206C>T (p.Pro402=)
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=) rs763249073
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp) rs772775334
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.3(COL6A1):c.1230C>A (p.Gly410=) rs147622862
NM_001848.3(COL6A1):c.1236+5G>C rs376327142
NM_001848.3(COL6A1):c.1237-5C>T
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=) rs1245856941
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
NM_001848.3(COL6A1):c.1266G>A (p.Gly422=)
NM_001848.3(COL6A1):c.126G>A (p.Leu42=)
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1272+12A>G
NM_001848.3(COL6A1):c.1272+13G>A rs2123475135
NM_001848.3(COL6A1):c.1272+3G>A rs2123475120
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
NM_001848.3(COL6A1):c.1273-12C>G
NM_001848.3(COL6A1):c.1273-18C>G
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser) rs2077783907
NM_001848.3(COL6A1):c.1281T>C (p.Pro427=) rs2123475470
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs) rs2077714727
NM_001848.3(COL6A1):c.1317G>A (p.Arg439=) rs1569518379
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter) rs2123475539
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His) rs778234022
NM_001848.3(COL6A1):c.1335+2_1335+3del
NM_001848.3(COL6A1):c.1335+3G>A
NM_001848.3(COL6A1):c.1335+7C>T rs2123475569
NM_001848.3(COL6A1):c.1335+9C>T
NM_001848.3(COL6A1):c.1336-16G>T
NM_001848.3(COL6A1):c.1336-19dup
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys) rs762989478
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
NM_001848.3(COL6A1):c.135T>C (p.Ser45=)
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.3(COL6A1):c.1398+18G>A
NM_001848.3(COL6A1):c.1398+2T>G rs1569518481
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.1399-10C>G
NM_001848.3(COL6A1):c.1399-17T>C
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys) rs1235513102
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
NM_001848.3(COL6A1):c.1401C>T (p.Gly467=)
NM_001848.3(COL6A1):c.1414A>C (p.Ile472Leu) rs773660427
NM_001848.3(COL6A1):c.1416C>T (p.Ile472=)
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg) rs766667205
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1431C>T (p.Tyr477=)
NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)
NM_001848.3(COL6A1):c.1446T>C (p.Gly482=)
NM_001848.3(COL6A1):c.1447C>T (p.Pro483Ser) rs756017426
NM_001848.3(COL6A1):c.1461+10A>T
NM_001848.3(COL6A1):c.1461+7C>T rs994516309
NM_001848.3(COL6A1):c.1462-12C>T
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp) rs117340427
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.3(COL6A1):c.1485T>C (p.Pro495=)
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer) rs1556423728
NM_001848.3(COL6A1):c.1494C>A (p.Pro498=)
NM_001848.3(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser) rs2123482543
NM_001848.3(COL6A1):c.1524+13C>T
NM_001848.3(COL6A1):c.1524+18C>T
NM_001848.3(COL6A1):c.1524+19G>A rs2276256
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1524+1G>A
NM_001848.3(COL6A1):c.1525-18G>T
NM_001848.3(COL6A1):c.1525-20C>T
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
NM_001848.3(COL6A1):c.1537C>T (p.Pro513Ser) rs1202320827
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser) rs2123483067
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu) rs2077817452
NM_001848.3(COL6A1):c.1575+11G>A
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT rs758434455
NM_001848.3(COL6A1):c.1575+2dup rs758434455
NM_001848.3(COL6A1):c.1576-1G>A rs112814811
NM_001848.3(COL6A1):c.1576-2A>G
NM_001848.3(COL6A1):c.1576-2_1576-1del rs1569518725
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.3(COL6A1):c.1591del (p.Arg531fs) rs2077819120
NM_001848.3(COL6A1):c.159G>A (p.Lys53=)
NM_001848.3(COL6A1):c.15T>A (p.Arg5=) rs2123459083
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1611+10C>T
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys) rs200023632
NM_001848.3(COL6A1):c.1612-11C>T rs370801259
NM_001848.3(COL6A1):c.1612-13C>T
NM_001848.3(COL6A1):c.1612-3C>T rs767913216
NM_001848.3(COL6A1):c.1612-4G>A
NM_001848.3(COL6A1):c.1614C>T (p.Gly538=)
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
NM_001848.3(COL6A1):c.1645G>A (p.Glu549Lys)
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr) rs1397088680
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg) rs2077822326
NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup) rs2123484082
NM_001848.3(COL6A1):c.1662C>T (p.Asp554=)
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
NM_001848.3(COL6A1):c.1674+15G>C rs749423625
NM_001848.3(COL6A1):c.1674+1G>A rs2123484131
NM_001848.3(COL6A1):c.1674+3_1674+6del
NM_001848.3(COL6A1):c.1674+7G>A
NM_001848.3(COL6A1):c.1675-5T>G
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=) rs1603593356
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr) rs775182845
NM_001848.3(COL6A1):c.1719C>T (p.Tyr573=) rs1013945029
NM_001848.3(COL6A1):c.1721G>C (p.Arg574Pro)
NM_001848.3(COL6A1):c.1722G>A (p.Arg574=) rs1004303947
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs) rs2077824006
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp) rs755214430
NM_001848.3(COL6A1):c.1738del (p.Gln580fs) rs2123484530
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg) rs1359915404
NM_001848.3(COL6A1):c.1740+14G>T
NM_001848.3(COL6A1):c.1740+17G>A rs200299050
NM_001848.3(COL6A1):c.1740+18G>A rs376726434
NM_001848.3(COL6A1):c.1740+18G>T rs376726434
NM_001848.3(COL6A1):c.1740+19G>A
NM_001848.3(COL6A1):c.1740+3G>A
NM_001848.3(COL6A1):c.1741-14C>T rs201088377
NM_001848.3(COL6A1):c.1755C>T (p.His585=)
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu) rs1188795991
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
NM_001848.3(COL6A1):c.1776+7G>A
NM_001848.3(COL6A1):c.1777-20C>G
NM_001848.3(COL6A1):c.1777-8C>T
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys) rs367650141
NM_001848.3(COL6A1):c.178G>T (p.Asp60Tyr) rs2123460260
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
NM_001848.3(COL6A1):c.1813+12T>C
NM_001848.3(COL6A1):c.1813+13G>C
NM_001848.3(COL6A1):c.1813+20C>T
NM_001848.3(COL6A1):c.1813+3_1813+6del
NM_001848.3(COL6A1):c.1814-15_1814-12del rs1399956018
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1814-6C>T
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA rs2077839436
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu) rs1439633596
NM_001848.3(COL6A1):c.1822+10A>G
NM_001848.3(COL6A1):c.1822+11G>A rs566601241
NM_001848.3(COL6A1):c.1822+11G>T rs566601241
NM_001848.3(COL6A1):c.1822+14del
NM_001848.3(COL6A1):c.1822+9C>G rs373566530
NM_001848.3(COL6A1):c.1822+9C>T
NM_001848.3(COL6A1):c.1823-12C>T
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1823-14G>A
NM_001848.3(COL6A1):c.1823-1G>T rs1569519030
NM_001848.3(COL6A1):c.1827C>T (p.Cys609=)
NM_001848.3(COL6A1):c.1830G>A (p.Lys610=)
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val) rs1222901174
NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)
NM_001848.3(COL6A1):c.1840A>G (p.Ile614Val)
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
NM_001848.3(COL6A1):c.1843G>A (p.Asp615Asn)
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe) rs1423091612
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu) rs150938324
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs) rs2123488904
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
NM_001848.3(COL6A1):c.1877T>C (p.Ile626Thr) rs781626943
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=) rs1447613750
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu) rs552239546
NM_001848.3(COL6A1):c.1914C>T (p.Val638=) rs867670442
NM_001848.3(COL6A1):c.1939C>T (p.Arg647Trp)
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=) rs375448277
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
NM_001848.3(COL6A1):c.1956+11G>A
NM_001848.3(COL6A1):c.1956+16G>T
NM_001848.3(COL6A1):c.1956+19C>T
NM_001848.3(COL6A1):c.1956+20G>A
NM_001848.3(COL6A1):c.1957-8T>A
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln) rs375318905
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu) rs1260709010
NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala) rs771702139
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
NM_001848.3(COL6A1):c.1989G>A (p.Val663=) rs760624194
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu) rs2123459059
NM_001848.3(COL6A1):c.2019C>G (p.His673Gln) rs141424786
NM_001848.3(COL6A1):c.2022G>A (p.Val674=) rs764099825
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu) rs373731596
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met) rs138312247
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu) rs138312247
NM_001848.3(COL6A1):c.2052G>A (p.Val684=)
NM_001848.3(COL6A1):c.2052G>T (p.Val684=) rs1219591102
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
NM_001848.3(COL6A1):c.2066+12A>C
NM_001848.3(COL6A1):c.2066+13C>T
NM_001848.3(COL6A1):c.2066+15C>A rs201407082
NM_001848.3(COL6A1):c.2066+15C>T rs201407082
NM_001848.3(COL6A1):c.2066+16G>A
NM_001848.3(COL6A1):c.2066+16G>T
NM_001848.3(COL6A1):c.2066+2T>C rs2077849329
NM_001848.3(COL6A1):c.2067-15C>T
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg) rs2123490353
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)
NM_001848.3(COL6A1):c.2118C>T (p.Ala706=) rs2077850957
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
NM_001848.3(COL6A1):c.2148G>C (p.Pro716=) rs780032842
NM_001848.3(COL6A1):c.2157G>C (p.Pro719=) rs377152990
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
NM_001848.3(COL6A1):c.2190G>T (p.Gly730=)
NM_001848.3(COL6A1):c.2193C>T (p.Arg731=) rs1025417641
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup) rs2123490613
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
NM_001848.3(COL6A1):c.2250+11C>T
NM_001848.3(COL6A1):c.2250+9G>A rs1342014969
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
NM_001848.3(COL6A1):c.2251-11_2251-8del
NM_001848.3(COL6A1):c.2251-16C>T rs1243894570
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
NM_001848.3(COL6A1):c.227+16C>T
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser) rs886042688
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=) rs1434098396
NM_001848.3(COL6A1):c.2329C>T (p.Leu777=)
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs) rs2123490954
NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr) rs2077853664
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=) rs886042391
NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=) rs1603594564
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer) rs2077854422
NM_001848.3(COL6A1):c.2431_2434+36del rs759918870
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC rs2123491106
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC rs1569519143
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT rs1569519146
NM_001848.3(COL6A1):c.2434+14_2434+15inv
NM_001848.3(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.3(COL6A1):c.2434+15_2434+94del rs1603594606
NM_001848.3(COL6A1):c.2434+16C>G rs2123491221
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC rs2123491242
NM_001848.3(COL6A1):c.2434+45_2434+124del rs2123491228
NM_001848.3(COL6A1):c.2434+45_2434+84del
NM_001848.3(COL6A1):c.2434+4C>T rs202147670
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2434+7A>C rs769385161
NM_001848.3(COL6A1):c.2434+8T>A rs1227258893
NM_001848.3(COL6A1):c.2434+8T>C
NM_001848.3(COL6A1):c.2434+8T>G
NM_001848.3(COL6A1):c.2434+9G>T
NM_001848.3(COL6A1):c.2435-13T>C rs746838395
NM_001848.3(COL6A1):c.2435-13T>G rs746838395
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln) rs2123491909
NM_001848.3(COL6A1):c.2450A>G (p.Asp817Gly)
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=) rs1182297662
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
NM_001848.3(COL6A1):c.2464+14C>T
NM_001848.3(COL6A1):c.2464+15G>A rs753573923
NM_001848.3(COL6A1):c.2464+1G>A rs113290209
NM_001848.3(COL6A1):c.2475C>T (p.Ser825=) rs1009381380
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr) rs1427066240
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)
NM_001848.3(COL6A1):c.2511C>T (p.Ser837=)
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val) rs1486288129
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
NM_001848.3(COL6A1):c.2580C>T (p.Leu860=) rs2123492588
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.3(COL6A1):c.2595G>C (p.Thr865=) rs367832752
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser) rs544927344
NM_001848.3(COL6A1):c.2638G>C (p.Gly880Arg)
NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)
NM_001848.3(COL6A1):c.2654G>A (p.Arg885His)
NM_001848.3(COL6A1):c.2659G>A (p.Glu887Lys)
NM_001848.3(COL6A1):c.2663G>A (p.Arg888Gln) rs138351067
NM_001848.3(COL6A1):c.2663G>C (p.Arg888Pro) rs138351067
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro) rs2077862405
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
NM_001848.3(COL6A1):c.2680C>T (p.Leu894=) rs1409263435
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met) rs1226903258
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly) rs766517983
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn) rs757422397
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del) rs2123492948
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
NM_001848.3(COL6A1):c.2766T>C (p.Tyr922=) rs889975432
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly) rs755340450
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu) rs144671871
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del) rs886043457
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)
NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)
NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser) rs150378645
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu) rs145811554
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.3(COL6A1):c.288G>A (p.Glu96=)
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2927G>A (p.Arg976His) rs753485651
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser) rs138652066
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
NM_001848.3(COL6A1):c.2973G>A (p.Thr991=)
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val) rs1316734507
NM_001848.3(COL6A1):c.2976C>G (p.Ala992=)
NM_001848.3(COL6A1):c.2977G>A (p.Glu993Lys)
NM_001848.3(COL6A1):c.2985C>T (p.Asp995=) rs759217203
NM_001848.3(COL6A1):c.2989G>T (p.Ala997Ser)
NM_001848.3(COL6A1):c.2995G>A (p.Gly999Ser)
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys) rs201456885
NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln) rs1180948133
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=) rs2077865473
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His) rs376999117
NM_001848.3(COL6A1):c.3014G>C (p.Arg1005Pro)
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
NM_001848.3(COL6A1):c.3042C>A (p.Arg1014=)
NM_001848.3(COL6A1):c.3042C>T (p.Arg1014=)
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs) rs766289958
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
NM_001848.3(COL6A1):c.3060A>G (p.Thr1020=) rs953326229
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
NM_001848.3(COL6A1):c.314G>A (p.Arg105His)
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu) rs754591267
NM_001848.3(COL6A1):c.316A>G (p.Met106Val) rs1365404018
NM_001848.3(COL6A1):c.320C>T (p.Pro107Leu)
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn) rs372627181
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
NM_001848.3(COL6A1):c.354C>T (p.Asp118=) rs1569517713
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.3(COL6A1):c.36G>C (p.Leu12=) rs2123459117
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn) rs1603589594
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.3(COL6A1):c.387C>A (p.Thr129=) rs377140588
NM_001848.3(COL6A1):c.387C>T (p.Thr129=)
NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn) rs1235398371
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr) rs1454397058
NM_001848.3(COL6A1):c.411G>A (p.Leu137=)
NM_001848.3(COL6A1):c.417G>A (p.Gln139=)
NM_001848.3(COL6A1):c.424G>A (p.Val142Met) rs144282452
NM_001848.3(COL6A1):c.428+10C>T rs1437662111
NM_001848.3(COL6A1):c.428+11C>T
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
NM_001848.3(COL6A1):c.428+1G>A rs1569517717
NM_001848.3(COL6A1):c.428+5G>A rs1603589628
NM_001848.3(COL6A1):c.429-11C>T
NM_001848.3(COL6A1):c.429-13C>A
NM_001848.3(COL6A1):c.429-15C>T
NM_001848.3(COL6A1):c.429-17del rs2123465809
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.429-19G>T
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val) rs2077739763
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
NM_001848.3(COL6A1):c.472G>A (p.Asp158Asn)
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.477G>T (p.Gly159=)
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg) rs980266782
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala) rs1309872535
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs) rs747419878
NM_001848.3(COL6A1):c.513G>C (p.Gly171=) rs1276849352
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val) rs1385535913
NM_001848.3(COL6A1):c.525T>A (p.Ala175=) rs761552446
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr) rs2077740453
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr) rs1556424938
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala) rs766184155
NM_001848.3(COL6A1):c.549C>A (p.Gly183=) rs398123636
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs) rs1377090546
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
NM_001848.3(COL6A1):c.564G>A (p.Ser188=)
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs) rs1603589162
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val) rs1273238821
NM_001848.3(COL6A1):c.57G>T (p.Ala19=)
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr) rs2077740811
NM_001848.3(COL6A1):c.588+12_588+13delinsTA rs2123466169
NM_001848.3(COL6A1):c.588+12_588+13insAC rs1556424960
NM_001848.3(COL6A1):c.588+16C>G
NM_001848.3(COL6A1):c.588+17_588+18insA
NM_001848.3(COL6A1):c.588+18C>T
NM_001848.3(COL6A1):c.588+18_588+19dup rs111710378
NM_001848.3(COL6A1):c.588+19del rs111710378
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.589-20A>C
NM_001848.3(COL6A1):c.589-3C>T rs1288681930
NM_001848.3(COL6A1):c.589-8G>A
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter) rs1603589167
NM_001848.3(COL6A1):c.594G>C (p.Pro198=) rs376592866
NM_001848.3(COL6A1):c.603C>T (p.Ser201=)
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
NM_001848.3(COL6A1):c.606C>T (p.Ile202=)
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
NM_001848.3(COL6A1):c.631C>G (p.Arg211Gly) rs375217284
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.632G>A (p.Arg211His)
NM_001848.3(COL6A1):c.644C>T (p.Ala215Val)
NM_001848.3(COL6A1):c.64G>A (p.Glu22Lys) rs1461577118
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu) rs780638665
NM_001848.3(COL6A1):c.678G>A (p.Glu226=) rs1370178953
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
NM_001848.3(COL6A1):c.699C>T (p.Asp233=) rs2123466761
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr) rs2077743440
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn) rs2123466789
NM_001848.3(COL6A1):c.717+10C>T
NM_001848.3(COL6A1):c.717+9C>G
NM_001848.3(COL6A1):c.718-11dup rs778494336
NM_001848.3(COL6A1):c.718-20G>A
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
NM_001848.3(COL6A1):c.720A>G (p.Lys240=) rs147612667
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
NM_001848.3(COL6A1):c.732G>A (p.Glu244=)
NM_001848.3(COL6A1):c.738+1G>T rs2077744287
NM_001848.3(COL6A1):c.738+24del
NM_001848.3(COL6A1):c.739-11del rs573196191
NM_001848.3(COL6A1):c.739-13T>C rs2123467487
NM_001848.3(COL6A1):c.739-2A>G rs2123467538
NM_001848.3(COL6A1):c.739-5C>T rs369946755
NM_001848.3(COL6A1):c.739-6C>G rs755793406
NM_001848.3(COL6A1):c.739-7C>T rs1603590124
NM_001848.3(COL6A1):c.741C>T (p.Cys247=)
NM_001848.3(COL6A1):c.748_805-704del
NM_001848.3(COL6A1):c.750C>T (p.Phe250=) rs748153811
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
NM_001848.3(COL6A1):c.756C>T (p.Cys252=)
NM_001848.3(COL6A1):c.759+12C>G
NM_001848.3(COL6A1):c.759+15C>T
NM_001848.3(COL6A1):c.759+15del
NM_001848.3(COL6A1):c.760-18G>A
NM_001848.3(COL6A1):c.760-19C>T
NM_001848.3(COL6A1):c.760-3C>T
NM_001848.3(COL6A1):c.760-5T>G rs1322851367
NM_001848.3(COL6A1):c.760-7C>T rs2123467721
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro) rs145473829
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val) rs886043351
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
NM_001848.3(COL6A1):c.804+14C>T
NM_001848.3(COL6A1):c.804+1G>A rs1385646650
NM_001848.3(COL6A1):c.804+20C>T
NM_001848.3(COL6A1):c.804+8G>A
NM_001848.3(COL6A1):c.804+9T>C rs2123467834
NM_001848.3(COL6A1):c.805-11T>C
NM_001848.3(COL6A1):c.805-2A>C rs398123639
NM_001848.3(COL6A1):c.805-2A>G rs398123639
NM_001848.3(COL6A1):c.805-2A>T rs398123639
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu) rs2077759104
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg) rs398123640
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp) rs1064793840
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg) rs201093313
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg) rs1556425467
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp) rs1556425467
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001848.3(COL6A1):c.842_858+7del rs2077759485
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.3(COL6A1):c.849C>T (p.Ala283=) rs1186770930
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.858+10T>C rs2123470427
NM_001848.3(COL6A1):c.858+13C>G
NM_001848.3(COL6A1):c.858+13C>T
NM_001848.3(COL6A1):c.858+5G>A rs2123470416
NM_001848.3(COL6A1):c.858+5G>T
NM_001848.3(COL6A1):c.858+7G>C rs2123470420
NM_001848.3(COL6A1):c.858+8C>T
NM_001848.3(COL6A1):c.859-15C>A rs759271765
NM_001848.3(COL6A1):c.859-15C>T
NM_001848.3(COL6A1):c.859-1G>C rs1556425531
NM_001848.3(COL6A1):c.859-20_859-17del rs766293322
NM_001848.3(COL6A1):c.859-20_859-18delinsTGA rs386819390
NM_001848.3(COL6A1):c.859-20_859-19inv
NM_001848.3(COL6A1):c.859-2A>G
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.3(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu) rs2077761954
NM_001848.3(COL6A1):c.861A>G (p.Gly287=)
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala) rs777764932
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp) rs121912939
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu) rs1603590641
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val) rs1603590641
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001848.3(COL6A1):c.888G>A (p.Gly296=) rs2123470925
NM_001848.3(COL6A1):c.894G>C (p.Gln298His) rs371989252
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg) rs2077762322
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.3(COL6A1):c.903+10_903+25del
NM_001848.3(COL6A1):c.903+12C>A
NM_001848.3(COL6A1):c.903+12C>G
NM_001848.3(COL6A1):c.903+12C>T
NM_001848.3(COL6A1):c.903+13C>A rs199632006
NM_001848.3(COL6A1):c.903+13C>G rs199632006
NM_001848.3(COL6A1):c.903+13_903+14delinsTA rs2123470988
NM_001848.3(COL6A1):c.903+14del rs757968177
NM_001848.3(COL6A1):c.903+18C>A
NM_001848.3(COL6A1):c.903+1G>T rs1569518119
NM_001848.3(COL6A1):c.903+20T>C rs2123470996
NM_001848.3(COL6A1):c.903+20T>G
NM_001848.3(COL6A1):c.903+2_903+10del
NM_001848.3(COL6A1):c.904-10G>A rs794727027
NM_001848.3(COL6A1):c.904-14C>T
NM_001848.3(COL6A1):c.904-18C>T
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001848.3(COL6A1):c.904-39A>T rs1569518138
NM_001848.3(COL6A1):c.904-3T>G
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg) rs1469287281
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val) rs2077763346
NM_001848.3(COL6A1):c.924G>A (p.Gly308=) rs374654116
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
NM_001848.3(COL6A1):c.928_930+23del
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.3(COL6A1):c.930+10G>A rs772379034
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001848.3(COL6A1):c.930+19C>T
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001848.3(COL6A1):c.930+1G>T rs886042902
NM_001848.3(COL6A1):c.930+20G>A
NM_001848.3(COL6A1):c.930+20G>C rs765683206
NM_001848.3(COL6A1):c.931-10G>A
NM_001848.3(COL6A1):c.931-17G>A rs568147495
NM_001848.3(COL6A1):c.931-17G>T
NM_001848.3(COL6A1):c.931-1G>A rs886042354
NM_001848.3(COL6A1):c.931-1G>C rs886042354
NM_001848.3(COL6A1):c.931-4G>T rs758332867
NM_001848.3(COL6A1):c.931-8C>G
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys) rs2123471915
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.934T>G (p.Ser312Ala) rs771229905
NM_001848.3(COL6A1):c.93C>T (p.Phe31=) rs753371577
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val) rs1556425679
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.3(COL6A1):c.957+10G>A
NM_001848.3(COL6A1):c.957+1G>A rs886044535
NM_001848.3(COL6A1):c.957+1G>C
NM_001848.3(COL6A1):c.957+2T>C rs794727060
NM_001848.3(COL6A1):c.957+4A>T
NM_001848.3(COL6A1):c.957+6C>G rs374926748
NM_001848.3(COL6A1):c.957G>A (p.Lys319=) rs1057520625
NM_001848.3(COL6A1):c.957_957+7del rs1556425687
NM_001848.3(COL6A1):c.958-11C>T
NM_001848.3(COL6A1):c.958-13T>G rs1490319824
NM_001848.3(COL6A1):c.958-2A>G rs1556425717
NM_001848.3(COL6A1):c.958-2_958-1del rs2123472064
NM_001848.3(COL6A1):c.958-3_958-2del
NM_001848.3(COL6A1):c.958-5C>T
NM_001848.3(COL6A1):c.97+12C>G rs2077709554
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del) rs2123472068
NM_001848.3(COL6A1):c.973C>G (p.Arg325Gly) rs764704372
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys) rs764704372
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001848.3(COL6A1):c.98-6G>A rs886042599
NM_001848.3(COL6A1):c.987G>A (p.Gly329=)
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
NM_001848.3(COL6A1):c.9G>A (p.Ala3=) rs369561233
NM_001848.3:c.19dup

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