NC_000021.9:g.46120116del


NC_000021.9:g.46120124_46120125del


NC_000021.9:g.46125328del


NM_001849.3(COL6A2):c.27108G>C


NM_001849.3(COL6A2):c.27149C>T


NM_001849.3(COL6A2):c.2789G>A


NM_001849.3(COL6A2):c.43G>T

rs1057522012 
NM_001849.3(COL6A2):c.10002A>C

rs1555873356 
NM_001849.3(COL6A2):c.1053+193G>A


NM_001849.3(COL6A2):c.1054100A>C


NM_001849.3(COL6A2):c.1059C>T (p.Pro353=)

rs1381119779 
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg)

rs199929757 
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter)

rs387906609 
NM_001849.3(COL6A2):c.1116+123G>A


NM_001849.3(COL6A2):c.1116+200G>A


NM_001849.3(COL6A2):c.1116+221G>A


NM_001849.3(COL6A2):c.1116+32G>A

rs7279347 
NM_001849.3(COL6A2):c.1117218A>T


NM_001849.3(COL6A2):c.1117279G>A


NM_001849.3(COL6A2):c.111756C>G


NM_001849.3(COL6A2):c.11179C>T

rs1057523383 
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=)

rs144482400 
NM_001849.3(COL6A2):c.115+6del

rs578127995 
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=)

rs140027285 
NM_001849.3(COL6A2):c.1179+101G>T


NM_001849.3(COL6A2):c.1194C>T (p.Asn398=)


NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn)

rs2839110 
NM_001849.3(COL6A2):c.1198G>A (p.Gly400Arg)

rs1064796261 
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=)

rs558981930 
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=)

rs61735827 
NM_001849.3(COL6A2):c.1270169T>C


NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser)

rs765430501 
NM_001849.3(COL6A2):c.1332+120A>C


NM_001849.3(COL6A2):c.1332+26A>G

rs3737362 
NM_001849.3(COL6A2):c.1332+272G>A


NM_001849.3(COL6A2):c.1332+286C>T


NM_001849.3(COL6A2):c.1332+290T>G


NM_001849.3(COL6A2):c.1332+293T>C


NM_001849.3(COL6A2):c.1332+299dup


NM_001849.3(COL6A2):c.133310C>G

rs199513044 
NM_001849.3(COL6A2):c.1333169C>T


NM_001849.3(COL6A2):c.1333198A>C


NM_001849.3(COL6A2):c.1333229C>T


NM_001849.3(COL6A2):c.1333243C>T


NM_001849.3(COL6A2):c.133380C>T


NM_001849.3(COL6A2):c.13338T>C

rs73159701 
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn)

rs535007570 
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His)

rs878854386 
NM_001849.3(COL6A2):c.138C>T (p.His46=)

rs201753549 
NM_001849.3(COL6A2):c.1395+234G>A


NM_001849.3(COL6A2):c.1395+82G>A


NM_001849.3(COL6A2):c.1396133G>C


NM_001849.3(COL6A2):c.1437T>C (p.Ala479=)

rs149077114 
NM_001849.3(COL6A2):c.1459168A>G


NM_001849.3(COL6A2):c.1461del (p.Ser488fs)

rs398123645 
NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp)

rs727502829 
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln)

rs61735828 
NM_001849.3(COL6A2):c.1476C>T (p.Pro492=)

rs772436808 
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr)

rs75581470 
NM_001849.3(COL6A2):c.1521+10C>T


NM_001849.3(COL6A2):c.1521+212A>G


NM_001849.3(COL6A2):c.1521+21A>G

rs1077182 
NM_001849.3(COL6A2):c.1522199_1522198insT


NM_001849.3(COL6A2):c.152236T>C

rs9976026 
NM_001849.3(COL6A2):c.1560C>G (p.Pro520=)

rs112197239 
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter)

rs773686174 
NM_001849.3(COL6A2):c.1572+148C>T


NM_001849.3(COL6A2):c.1572+1G>A

rs1057520717 
NM_001849.3(COL6A2):c.1572+3G>A

rs372414400 
NM_001849.3(COL6A2):c.157332C>T

rs17272651 
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=)

rs377476546 
NM_001849.3(COL6A2):c.160910C>T

rs17357592 
NM_001849.3(COL6A2):c.1609155T>C


NM_001849.3(COL6A2):c.1609163G>A


NM_001849.3(COL6A2):c.1614C>T (p.Gly538=)

rs147194375 
NM_001849.3(COL6A2):c.1620C>T (p.Gly540=)

rs774587547 
NM_001849.3(COL6A2):c.1651_1659AAAGGAGAG[3] (p.551_553KGE[3])

rs773493556 
NM_001849.3(COL6A2):c.1671+10A>G

rs915786 
NM_001849.3(COL6A2):c.1671+17C>T

rs372188653 
NM_001849.3(COL6A2):c.1671+9C>T

rs186428044 
NM_001849.3(COL6A2):c.167212G>A

rs113857622 
NM_001849.3(COL6A2):c.1672177T>C


NM_001849.3(COL6A2):c.167224C>G

rs3746995 
NM_001849.3(COL6A2):c.1672257T>C


NM_001849.3(COL6A2):c.167237G>T

rs79205686 
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=)

rs144334894 
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln)

rs147158850 
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu)

rs142021066 
NM_001849.3(COL6A2):c.1734+35A>G

rs55933135 
NM_001849.3(COL6A2):c.173530A>G

rs73382466 
NM_001849.3(COL6A2):c.173572G>A


NM_001849.3(COL6A2):c.1761C>T (p.Pro587=)

rs146311719 
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met)

rs142709940 
NM_001849.3(COL6A2):c.1770+11C>T

rs755518889 
NM_001849.3(COL6A2):c.1770+4G>A

rs9981981 
NM_001849.3(COL6A2):c.1771159G>A


NM_001849.3(COL6A2):c.177125A>G

rs2839113 
NM_001849.3(COL6A2):c.181733C>T

rs2276101 
NM_001849.3(COL6A2):c.181769T>C


NM_001849.3(COL6A2):c.18178C>G

rs750444649 
NM_001849.3(COL6A2):c.186dup (p.Thr63fs)

rs886041439 
NM_001849.3(COL6A2):c.189G>A (p.Thr63=)

rs143583433 
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr)

rs142002945 
NM_001849.3(COL6A2):c.197023G>C

rs78764604 
NM_001849.3(COL6A2):c.19703C>A

rs201879417 
NM_001849.3(COL6A2):c.19709G>A

rs747900252 
NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys)

rs138948335 
NM_001849.3(COL6A2):c.2038_2039delinsA (p.Arg680fs)

rs1064795685 
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=)

rs373514837 
NM_001849.3(COL6A2):c.2048C>T (p.Ser683Phe)

rs1258904789 
NM_001849.3(COL6A2):c.2093C>T (p.Ala698Val)

rs1085307668 
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=)

rs114554195 
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=)

rs61735829 
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=)

rs16978875 
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys)

rs150098077 
NM_001849.3(COL6A2):c.2184G>A (p.Val728=)

rs2839114 
NM_001849.3(COL6A2):c.219C>T (p.Phe73=)

rs374336669 
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=)

rs61735830 
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=)

rs398123649 
NM_001849.3(COL6A2):c.225G>T (p.Pro75=)

rs143678454 
NM_001849.3(COL6A2):c.22G>A (p.Val8Met)

rs192476178 
NM_001849.3(COL6A2):c.2301C>T (p.His767=)

rs138371054 
NM_001849.3(COL6A2):c.2331C>T (p.Cys777=)

rs181711180 
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn)

rs28562813 
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His)

rs75120695 
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=)

rs566966690 
NM_001849.3(COL6A2):c.2367C>T (p.Phe789=)

rs775201159 
NM_001849.3(COL6A2):c.2422+112C>A


NM_001849.3(COL6A2):c.2422+1G>A

rs113828929 
NM_001849.3(COL6A2):c.2422+7G>A

rs773282809 
NM_001849.3(COL6A2):c.2422+7G>T

rs773282809 
NM_001849.3(COL6A2):c.2422+93T>C


NM_001849.3(COL6A2):c.242311C>T

rs199952790 
NM_001849.3(COL6A2):c.242318C>T

rs866625140 
NM_001849.3(COL6A2):c.242318_242317ins30


NM_001849.3(COL6A2):c.242318_242317insCGGCCCGGCC

rs138363207 
NM_001849.3(COL6A2):c.242318_242317insCGGCCCGGCCCGGCCCGGCC

rs138363207 
NM_001849.3(COL6A2):c.242335C>A

rs16978878 
NM_001849.3(COL6A2):c.242383T>C


NM_001849.3(COL6A2):c.244C>T (p.Gln82Ter)

rs886041447 
NM_001849.3(COL6A2):c.2455C>T (p.Gln819Ter)

rs121912942 
NM_001849.3(COL6A2):c.2461+11G>A

rs200484565 
NM_001849.3(COL6A2):c.2461+15C>T

rs1057002808 
NM_001849.3(COL6A2):c.2461+2100A>C


NM_001849.3(COL6A2):c.246212G>A

rs369839157 
NM_001849.3(COL6A2):c.2462204T>C


NM_001849.3(COL6A2):c.24622239T>A


NM_001849.3(COL6A2):c.24622255C>T


NM_001849.3(COL6A2):c.24622299T>C


NM_001849.3(COL6A2):c.24622311A>G


NM_001849.3(COL6A2):c.24622358G>C


NM_001849.3(COL6A2):c.246235C>T

rs7279622 
NM_001849.3(COL6A2):c.24625dupC

rs797044699 
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile)

rs117668143 
NM_001849.3(COL6A2):c.2515_2516del (p.Asp839fs)

rs1064793394 
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=)

rs113002150 
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=)

rs149697707 
NM_001849.3(COL6A2):c.2539_2540dup (p.Gln847fs)

rs1413628703 
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln)

rs144830948 
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=)

rs774805224 
NM_001849.3(COL6A2):c.2566G>A (p.Val856Met)

rs368160013 
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs)

rs863224243 
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp)

rs144484744 
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln)

rs61735831 
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn)

rs141021828 
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr)

rs141021828 
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=)

rs150219725 
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=)

rs116817879 
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr)

rs199606147 
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg)

rs141233891 
NM_001849.3(COL6A2):c.2696C>T (p.Thr899Met)

rs771341779 
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=)

rs11554669 
NM_001849.3(COL6A2):c.2745G>A (p.Ser915=)

rs144516266 
NM_001849.3(COL6A2):c.2751G>T (p.Val917=)

rs111341650 
NM_001849.3(COL6A2):c.2754C>T (p.Gly918=)

rs765055618 
NM_001849.3(COL6A2):c.2769C>T (p.His923=)

rs140419176 
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu)

rs117725825 
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=)

rs373274913 
NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln)

rs777354703 
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=)

rs532522222 
NM_001849.3(COL6A2):c.2843C>T (p.Thr948Met)

rs367980010 
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=)

rs138074469 
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=)

rs548194162 
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=)

rs375430758 
NM_001849.3(COL6A2):c.2884C>G (p.His962Asp)

rs373184224 
NM_001849.3(COL6A2):c.2886C>T (p.His962=)

rs115970356 
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=)

rs61735833 
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro)

rs201854898 
NM_001849.3(COL6A2):c.2898G>A (p.Lys966=)

rs759502409 
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=)

rs150716220 
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=)

rs149845431 
NM_001849.3(COL6A2):c.2982C>T (p.Ala994=)

rs145460820 
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr)

rs35139588 
NM_001849.3(COL6A2):c.2998A>G (p.Lys1000Glu)

rs151244310 
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val)

rs113169531 
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=)

rs61735832 
NM_001849.3(COL6A2):c.3019C>G (p.Gln1007Glu)

rs1555877377 
NM_001849.3(COL6A2):c.3046C>T (p.Arg1016Cys)

rs373392391 
NM_001849.3(COL6A2):c.333G>A (p.Pro111=)

rs370531466 
NM_001849.3(COL6A2):c.335G>A (p.Gly112Asp)

rs776732203 
NM_001849.3(COL6A2):c.390C>T (p.Arg130=)

rs544610322 
NM_001849.3(COL6A2):c.426G>A (p.Thr142=)

rs149480738 
NM_001849.3(COL6A2):c.431A>G (p.Gln144Arg)

rs1555871542 
NM_001849.3(COL6A2):c.459C>T (p.Thr153=)

rs764014106 
NM_001849.3(COL6A2):c.483C>T (p.Thr161=)

rs138312213 
NM_001849.3(COL6A2):c.492C>T (p.His164=)

rs140929054 
NM_001849.3(COL6A2):c.499G>A (p.Gly167Ser)

rs115957676 
NM_001849.3(COL6A2):c.510C>T (p.Cys170=)

rs142328765 
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg)

rs200710788 
NM_001849.3(COL6A2):c.528G>A (p.Gln176=)

rs377585812 
NM_001849.3(COL6A2):c.535C>T (p.Arg179Trp)

rs201470058 
NM_001849.3(COL6A2):c.567C>T (p.Ala189=)

rs563505047 
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=)

rs150004111 
NM_001849.3(COL6A2):c.663C>T (p.Pro221=)

rs59531343 
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn)

rs35881321 
NM_001849.3(COL6A2):c.714+45C>T

rs2070957 
NM_001849.3(COL6A2):c.714+53C>T


NM_001849.3(COL6A2):c.714+62A>G


NM_001849.3(COL6A2):c.714+9C>T

rs78822624 
NM_001849.3(COL6A2):c.726C>T (p.Ala242=)

rs767184248 
NM_001849.3(COL6A2):c.759A>G (p.Glu253=)

rs140404854 
NM_001849.3(COL6A2):c.773C>G (p.Ser258Cys)

rs770303583 
NM_001849.3(COL6A2):c.786C>G (p.Gly262=)

rs145500808 
NM_001849.3(COL6A2):c.801+209G>A


NM_001849.3(COL6A2):c.802250T>G


NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp)

rs397515333 
NM_001849.3(COL6A2):c.81G>A (p.Ser27=)

rs111639540 
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys)

rs61735835 
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu)

rs886044088 
NM_001849.3(COL6A2):c.84G>A (p.Pro28=)

rs140890046 
NM_001849.3(COL6A2):c.855+19C>T

rs373366455 
NM_001849.3(COL6A2):c.855+1G>A

rs1057517988 
NM_001849.3(COL6A2):c.855+1G>C

rs1057517988 
NM_001849.3(COL6A2):c.85614G>A

rs759917394 
NM_001849.3(COL6A2):c.901111C>T


NM_001849.3(COL6A2):c.92819C>T

rs762438 
NM_001849.3(COL6A2):c.94G>T (p.Glu32Ter)

rs547648292 
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn)

rs139399166 
NM_001849.3(COL6A2):c.999+14C>T

rs761013382 
NM_001849.3(COL6A2):c.999+71A>T


NM_058174.3(COL6A2):c.111735_1118dup

rs1555873698 
NM_058174.3(COL6A2):c.1770+17dup

rs751366581 
NM_058174.3(COL6A2):c.1770+1del

rs886044215 
NM_058174.3(COL6A2):c.1816+18del

rs150275851 
NM_058174.3(COL6A2):c.18173dup

rs149954350 
NM_058174.3(COL6A2):c.19707_1981dup

rs754514524 