NC_000021.9:g.46125328del

rs150275851 
NM_001849.3(COL6A2):c.*105C>T

rs538537601 
NM_001849.3(COL6A2):c.*106G>A

rs185393384 
NM_001849.3(COL6A2):c.*147C>T

rs560095085 
NM_001849.3(COL6A2):c.*307G>A

rs532914531 
NM_001849.3(COL6A2):c.*45G>A

rs552240091 
NM_001849.3(COL6A2):c.*56T>G

rs148337125 
NM_001849.3(COL6A2):c.*5G>A

rs377195134 
NM_001849.3(COL6A2):c.*66C>G

rs568256520 
NM_001849.3(COL6A2):c.*88G>C

rs369124688 
NM_001849.3(COL6A2):c.27108G>C

rs77745490 
NM_001849.3(COL6A2):c.43G>T

rs1057522012 
NM_001849.3(COL6A2):c.10006C>T

rs761428568 
NM_001849.3(COL6A2):c.1017C>T (p.Ile339=)

rs766157503 
NM_001849.3(COL6A2):c.1053+193G>A

rs141960812 
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.1071G>A (p.Pro357=)

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

rs374673302 
NM_001849.3(COL6A2):c.1116+123G>A

rs115156393 
NM_001849.3(COL6A2):c.1116+22C>T

rs111592472 
NM_001849.3(COL6A2):c.1116+39C>T

rs180796593 
NM_001849.3(COL6A2):c.1117279G>A

rs12483283 
NM_001849.3(COL6A2):c.11177C>A

rs202094835 
NM_001849.3(COL6A2):c.11179C>T

rs1057523383 
NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys)

rs144801620 
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=)

rs144482400 
NM_001849.3(COL6A2):c.115+10G>T

rs200797233 
NM_001849.3(COL6A2):c.115+6del

rs578127995 
NM_001849.3(COL6A2):c.1152G>A (p.Pro384=)

rs148423929 
NM_001849.3(COL6A2):c.11634G>A

rs117154313 
NM_001849.3(COL6A2):c.1166C>T

rs761805565 
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=)

rs140027285 
NM_001849.3(COL6A2):c.1194C>T (p.Asn398=)

rs1158137469 
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=)

rs558981930 
NM_001849.3(COL6A2):c.123C>T (p.Thr41=)

rs766840536 
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=)

rs61735827 
NM_001849.3(COL6A2):c.1269+32C>G

rs76825716 
NM_001849.3(COL6A2):c.1269+32C>T

rs76825716 
NM_001849.3(COL6A2):c.1269G>C (p.Pro423=)

rs144136807 
NM_001849.3(COL6A2):c.129C>T (p.Cys43=)

rs755324001 
NM_001849.3(COL6A2):c.1332+10C>T

rs886042745 
NM_001849.3(COL6A2):c.1332+120A>C

rs114994097 
NM_001849.3(COL6A2):c.1332+272G>A

rs200878857 
NM_001849.3(COL6A2):c.133310C>G

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

rs535007570 
NM_001849.3(COL6A2):c.1356C>T (p.Pro452=)

rs886044428 
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.1458+9_1458+14del

rs762583937 
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.1518C>T (p.Pro506=)

rs767192013 
NM_001849.3(COL6A2):c.1521+10C>T

rs753385303 
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.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.160946A>G

rs182834722 
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.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.167225C>T

rs777715877 
NM_001849.3(COL6A2):c.167245T>A

rs539239812 
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.1770+11C>T

rs755518889 
NM_001849.3(COL6A2):c.1779C>T (p.Asp593=)

rs139571947 
NM_001849.3(COL6A2):c.1816+9C>T

rs1456625954 
NM_001849.3(COL6A2):c.18178C>A

rs750444649 
NM_001849.3(COL6A2):c.18178C>G

rs750444649 
NM_001849.3(COL6A2):c.1836C>T (p.Gly612=)

rs141257132 
NM_001849.3(COL6A2):c.1845C>T (p.Asp615=)

rs908989305 
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=)

rs189341312 
NM_001849.3(COL6A2):c.189G>A (p.Thr63=)

rs143583433 
NM_001849.3(COL6A2):c.1944C>T (p.Ile648=)

rs148178994 
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr)

rs142002945 
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=)

rs150253422 
NM_001849.3(COL6A2):c.1969+10G>C

rs201259184 
NM_001849.3(COL6A2):c.197010C>T

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

rs78764604 
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=)

rs146323303 
NM_001849.3(COL6A2):c.2031C>T (p.Asp677=)

rs759646708 
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=)

rs373514837 
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.2181G>A (p.Ala727=)

rs111938213 
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.2200C>T (p.Arg734Cys)

rs886038496 
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.2235G>T (p.Arg745=)

rs773668391 
NM_001849.3(COL6A2):c.2238G>A (p.Ala746=)

rs535581551 
NM_001849.3(COL6A2):c.2241G>A (p.Leu747=)

rs398123649 
NM_001849.3(COL6A2):c.2244C>T (p.Cys748=)

rs201426778 
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.2264C>T (p.Thr755Met)

rs369954815 
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.2319C>T (p.Tyr773=)

rs377458657 
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.2367C>T (p.Phe789=)

rs775201159 
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.242318C>T

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


NM_001849.3(COL6A2):c.242318_242317insCGGCCCGGCC

rs138363207 
NM_001849.3(COL6A2):c.242318_242317insCGGCCCGGCCCGGCC

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

rs138363207 
NM_001849.3(COL6A2):c.242348C>T

rs201367713 
NM_001849.3(COL6A2):c.24239C>G

rs368725753 
NM_001849.3(COL6A2):c.2454C>T (p.Cys818=)

rs199499499 
NM_001849.3(COL6A2):c.2461+11G>A

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

rs1057002808 
NM_001849.3(COL6A2):c.2461+42G>A

rs202043587 
NM_001849.3(COL6A2):c.246212G>A

rs369839157 
NM_001849.3(COL6A2):c.24625C>T

rs760890154 
NM_001849.3(COL6A2):c.2490G>A (p.Arg830=)

rs748047522 
NM_001849.3(COL6A2):c.2499C>T (p.Asp833=)

rs886038497 
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.2538G>A (p.Glu846=)

rs144475977 
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=)

rs774805224 
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=)

rs146420786 
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln)

rs373813975 
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.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.2713C>T (p.Leu905=)

rs753611948 
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.2754C>T (p.Gly918=)

rs765055618 
NM_001849.3(COL6A2):c.2766G>A (p.Val922=)

rs557446829 
NM_001849.3(COL6A2):c.2769C>T (p.His923=)

rs140419176 
NM_001849.3(COL6A2):c.2784C>T (p.Ile928=)

rs199501232 
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.2850C>T (p.Gly950=)

rs751192681 
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.2879C>T (p.Ser960Leu)

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

rs375430758 
NM_001849.3(COL6A2):c.2882C>T (p.Ala961Val)

rs138674440 
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.2898G>A (p.Lys966=)

rs759502409 
NM_001849.3(COL6A2):c.2904C>T (p.Asn968=)

rs143569686 
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=)

rs150716220 
NM_001849.3(COL6A2):c.2938G>A (p.Val980Met)

rs140020002 
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val)

rs190664941 
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.2978G>A (p.Arg993His)

rs544436881 
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.2985C>T (p.Ala995=)

rs752243349 
NM_001849.3(COL6A2):c.2994C>T (p.His998=)

rs376362856 
NM_001849.3(COL6A2):c.2995G>A (p.Glu999Lys)

rs142296092 
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=)

rs751494076 
NM_001849.3(COL6A2):c.3003C>A (p.Asp1001Glu)

rs756253502 
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.3025G>A (p.Gly1009Ser)

rs35887009 
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.333G>A (p.Pro111=)

rs370531466 
NM_001849.3(COL6A2):c.344G>A (p.Arg115Gln)

rs145352569 
NM_001849.3(COL6A2):c.390C>T (p.Arg130=)

rs544610322 
NM_001849.3(COL6A2):c.402C>T (p.Thr134=)

rs201221113 
NM_001849.3(COL6A2):c.426G>A (p.Thr142=)

rs149480738 
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.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.620C>G (p.Thr207Arg)

rs760395633 
NM_001849.3(COL6A2):c.624G>A (p.Pro208=)

rs146333253 
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.672C>T (p.Thr224=)

rs759388890 
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn)

rs35881321 
NM_001849.3(COL6A2):c.714+10G>A

rs777394169 
NM_001849.3(COL6A2):c.714+9C>T

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

rs767184248 
NM_001849.3(COL6A2):c.735+7G>A

rs575365107 
NM_001849.3(COL6A2):c.7367G>A

rs375288629 
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.801+209G>A

rs145937262 
NM_001849.3(COL6A2):c.80245C>T

rs200902198 
NM_001849.3(COL6A2):c.81G>A (p.Ser27=)

rs111639540 
NM_001849.3(COL6A2):c.828G>A (p.Pro276=)

rs140790797 
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys)

rs61735835 
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+8T>C

rs370008311 
NM_001849.3(COL6A2):c.85614G>A

rs759917394 
NM_001849.3(COL6A2):c.903C>T (p.Gly301=)

rs541325013 
NM_001849.3(COL6A2):c.9289C>T

rs200571090 
NM_001849.3(COL6A2):c.942C>T (p.Ala314=)

rs531713008 
NM_001849.3(COL6A2):c.94G>A (p.Glu32Lys)

rs547648292 
NM_001849.3(COL6A2):c.978G>A (p.Lys326=)

rs1480541163 
NM_001849.3(COL6A2):c.981C>T (p.Asn327=)

rs768836349 
NM_001849.3(COL6A2):c.987C>T (p.Thr329=)

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

rs139399166 
NM_001849.3(COL6A2):c.999+10G>T

rs376378709 
NM_001849.3(COL6A2):c.999+14C>T

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

rs147649367 
NM_001849.3(COL6A2):c.999+7G>A

rs199783099 
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=)

rs760596115 
NM_001849.4(COL6A2):c.1053+10G>A

rs377311004 
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)


NM_001849.4(COL6A2):c.11178C>T

rs1601231143 
NM_001849.4(COL6A2):c.1168C>T

rs1359608410 
NM_001849.4(COL6A2):c.118010C>T

rs777782503 
NM_001849.4(COL6A2):c.120G>A (p.Lys40=)

rs200025682 
NM_001849.4(COL6A2):c.12708C>A

rs1601233823 
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=)

rs1601233959 
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=)

rs1601235960 
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=)

rs374669775 
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=)

rs745867374 
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=)

rs528087300 
NM_001849.4(COL6A2):c.15227C>T


NM_001849.4(COL6A2):c.1593C>T (p.Gly531=)

rs1394972929 
NM_001849.4(COL6A2):c.16095C>T

rs1201782306 
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)


NM_001849.4(COL6A2):c.1671+9_1671+10inv


NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)


NM_001849.4(COL6A2):c.1710G>A (p.Gly570=)

rs377210303 
NM_001849.4(COL6A2):c.173514C>T


NM_001849.4(COL6A2):c.1767C>T (p.Leu589=)

rs528635866 
NM_001849.4(COL6A2):c.1770+17dup

rs751366581 
NM_001849.4(COL6A2):c.177113G>A


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

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

rs149954350 
NM_001849.4(COL6A2):c.18174_18173dup

rs149954350 
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)


NM_001849.4(COL6A2):c.186C>A (p.Pro62=)

rs762050166 
NM_001849.4(COL6A2):c.1875C>T (p.Ser625=)

rs1221080628 
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=)

rs143819480 
NM_001849.4(COL6A2):c.19703C>A

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

rs747900252 
NM_001849.4(COL6A2):c.1980G>T (p.Val660=)

rs201427728 
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=)

rs771823896 
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)

rs1601216910 
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=)

rs776187095 
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)

rs1601249990 
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=)

rs531816975 
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=)

rs1345626063 
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=)

rs747494120 
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)


NM_001849.4(COL6A2):c.2268C>T (p.Ala756=)

rs1322159209 
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=)

rs201571249 
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=)

rs373731822 
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)

rs75120695 
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=)

rs530866573 
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=)

rs201518654 
NM_001849.4(COL6A2):c.2461+10G>A

rs777710817 
NM_001849.4(COL6A2):c.24625dup

rs797044699 
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=)

rs771772739 
NM_001849.4(COL6A2):c.2496G>A (p.Val832=)

rs567775494 
NM_001849.4(COL6A2):c.249C>T (p.Asn83=)

rs151032529 
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=)

rs369040271 
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)

rs144830948 
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=)

rs376791811 
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=)

rs147044688 
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=)

rs908318849 
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=)

rs374163190 
NM_001849.4(COL6A2):c.2658C>A (p.Gly886=)

rs143168888 
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)


NM_001849.4(COL6A2):c.2733G>A (p.Leu911=)

rs139798208 
NM_001849.4(COL6A2):c.273G>A (p.Ala91=)

rs753168760 
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)


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

rs117725825 
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=)

rs912421199 
NM_001849.4(COL6A2):c.2874C>T (p.His958=)

rs765550338 
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=)

rs764590595 
NM_001849.4(COL6A2):c.498C>T (p.Thr166=)

rs762436629 
NM_001849.4(COL6A2):c.522G>A (p.Lys174=)

rs554016354 
NM_001849.4(COL6A2):c.525G>A (p.Leu175=)

rs754034094 
NM_001849.4(COL6A2):c.576C>T (p.Pro192=)

rs757571306 
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)


NM_001849.4(COL6A2):c.720C>T (p.His240=)

rs763803023 
NM_001849.4(COL6A2):c.879C>T (p.Pro293=)

rs138389174 
NM_001849.4(COL6A2):c.92810T>A

rs747608945 
NM_001849.4(COL6A2):c.945C>T (p.Asp315=)

rs549800720 
NM_001849.4(COL6A2):c.954+8G>A

rs1377719373 
NM_058174.3(COL6A2):c.246212G>A

rs748960649 
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)

rs149172490 