NM_001849.3(COL6A2):c.*5G>A

rs377195134 
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg)

rs199929757 
NM_001849.3(COL6A2):c.1071G>A (p.Pro357=)

rs746727003 
NM_001849.3(COL6A2):c.1095G>A (p.Glu365=)

rs374673302 
NM_001849.3(COL6A2):c.1116+22C>T

rs111592472 
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.11634G>A

rs117154313 
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=)

rs140027285 
NM_001849.3(COL6A2):c.123C>T (p.Thr41=)

rs766840536 
NM_001849.3(COL6A2):c.1269G>C (p.Pro423=)

rs144136807 
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser)

rs765430501 
NM_001849.3(COL6A2):c.133310C>G

rs199513044 
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn)

rs535007570 
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=)

rs750842859 
NM_001849.3(COL6A2):c.138C>T (p.His46=)

rs201753549 
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=)

rs149077114 
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.1489C>A (p.Pro497Thr)

rs75581470 
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser)

rs141166141 
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+3G>A

rs372414400 
NM_001849.3(COL6A2):c.1599C>T (p.Arg533=)

rs373635709 
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=)

rs377476546 
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys)

rs143338050 
NM_001849.3(COL6A2):c.160910C>T

rs17357592 
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=)

rs147194375 
NM_001849.3(COL6A2):c.1671+10A>G

rs915786 
NM_001849.3(COL6A2):c.1671+9C>T

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

rs113857622 
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.173530A>G

rs73382466 
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.1779C>T (p.Asp593=)

rs139571947 
NM_001849.3(COL6A2):c.18178C>A

rs750444649 
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.197010C>T

rs373369963 
NM_001849.3(COL6A2):c.197023G>C

rs78764604 
NM_001849.3(COL6A2):c.2031C>T (p.Asp677=)

rs759646708 
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys)

rs377376395 
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.2182G>A (p.Val728Met)

rs200585528 
NM_001849.3(COL6A2):c.219C>T (p.Phe73=)

rs374336669 
NM_001849.3(COL6A2):c.2205C>T (p.His735=)

rs755147431 
NM_001849.3(COL6A2):c.2217C>T (p.Asp739=)

rs374795477 
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.2250C>T (p.Arg750=)

rs200096552 
NM_001849.3(COL6A2):c.225G>T (p.Pro75=)

rs143678454 
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.2361G>A (p.Thr787=)

rs566966690 
NM_001849.3(COL6A2):c.2422+7G>A

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

rs773282809 
NM_001849.3(COL6A2):c.242311C>T

rs199952790 
NM_001849.3(COL6A2):c.24239C>G

rs368725753 
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp)

rs373072443 
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile)

rs117668143 
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.2565C>T (p.Phe855=)

rs774805224 
NM_001849.3(COL6A2):c.2575G>A (p.Val859Met)

rs370446082 
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln)

rs373813975 
NM_001849.3(COL6A2):c.2585G>A (p.Arg862Gln)

rs367658663 
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs)

rs1555877258 
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.2608G>A (p.Asp870Asn)

rs145785230 
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=)

rs116817879 
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn)

rs387906610 
NM_001849.3(COL6A2):c.2634G>A (p.Ala878=)

rs143749884 
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=)

rs148249892 
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg)

rs141233891 
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=)

rs11554669 
NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys)

rs373611722 
NM_001849.3(COL6A2):c.2712G>A (p.Ala904=)

rs139116075 
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=)

rs747734639 
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.2769C>T (p.His923=)

rs140419176 
NM_001849.3(COL6A2):c.2785G>A (p.Val929Met)

rs145527336 
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=)

rs373274913 
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His)

rs374384263 
NM_001849.3(COL6A2):c.2841C>T (p.Leu947=)

rs532522222 
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=)

rs548194162 
NM_001849.3(COL6A2):c.2879C>T (p.Ser960Leu)

rs750097119 
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=)

rs375430758 
NM_001849.3(COL6A2):c.2883G>A (p.Ala961=)

rs369756029 
NM_001849.3(COL6A2):c.288C>T (p.Tyr96=)

rs61735833 
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys)

rs201188174 
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro)

rs201854898 
NM_001849.3(COL6A2):c.2904C>T (p.Asn968=)

rs143569686 
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn)

rs141579198 
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.2968C>T (p.Leu990=)

rs746012569 
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr)

rs35139588 
NM_001849.3(COL6A2):c.2985C>T (p.Ala995=)

rs752243349 
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.3024C>T (p.Pro1008=)

rs201635208 
NM_001849.3(COL6A2):c.3034G>A (p.Asp1012Asn)

rs372431744 
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys)

rs141703710 
NM_001849.3(COL6A2):c.426G>A (p.Thr142=)

rs149480738 
NM_001849.3(COL6A2):c.446G>A (p.Arg149His)

rs143891262 
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.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.567C>T (p.Ala189=)

rs563505047 
NM_001849.3(COL6A2):c.568G>A (p.Val190Met)

rs150877061 
NM_001849.3(COL6A2):c.612C>T (p.Ile204=)

rs773143298 
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys)

rs113017484 
NM_001849.3(COL6A2):c.648C>T (p.Tyr216=)

rs150004111 
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr)

rs530625182 
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn)

rs35881321 
NM_001849.3(COL6A2):c.714+9C>T

rs78822624 
NM_001849.3(COL6A2):c.759A>G (p.Glu253=)

rs140404854 
NM_001849.3(COL6A2):c.786C>G (p.Gly262=)

rs145500808 
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.847G>A (p.Gly283Arg)

rs267606748 
NM_001849.3(COL6A2):c.84G>A (p.Pro28=)

rs140890046 
NM_001849.3(COL6A2):c.855+1G>C

rs1057517988 
NM_001849.3(COL6A2):c.94G>A (p.Glu32Lys)

rs547648292 
NM_001849.3(COL6A2):c.987C>T (p.Thr329=)

rs748215430 
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn)

rs139399166 
NM_001849.4(COL6A2):c.1770+1del

rs886044215 
NM_001849.4(COL6A2):c.1816+18del

rs150275851 
NM_001849.4(COL6A2):c.18173del

rs149954350 
NM_001849.4(COL6A2):c.19703C>A

rs201879417 
NM_001849.4(COL6A2):c.19709G>A

rs747900252 
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)

rs75120695 
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)

rs144830948 
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)

rs368160013 
NM_001849.4(COL6A2):c.2795C>T

rs117725825 
Single allele

