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

rs377195134 
NM_001849.3(COL6A2):c.10002A>C

rs1555873356 
NM_001849.3(COL6A2):c.1037_1038delGAinsTT (p.Gly346Val)


NM_001849.3(COL6A2):c.10542A>G

rs886044023 
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg)

rs199929757 
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+2T>C

rs770842374 
NM_001849.3(COL6A2):c.115+6delA

rs578127995 
NM_001849.3(COL6A2):c.11634G>A

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

rs140027285 
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.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.1356C>T (p.Pro452=)

rs886044428 
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+14delCAGTGC

rs762583937 
NM_001849.3(COL6A2):c.1461delA (p.Ser488Leufs)

rs398123645 
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.1493G>A (p.Arg498His)

rs267606749 
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu)

rs886042332 
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser)

rs141166141 
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter)

rs773686174 
NM_001849.3(COL6A2):c.1572+3G>A

rs372414400 
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.1770+1delG

rs886044215 
NM_001849.3(COL6A2):c.1816+18delG

rs150275851 
NM_001849.3(COL6A2):c.18173delC

rs149954350 
NM_001849.3(COL6A2):c.18174_18173dupCC

rs149954350 
NM_001849.3(COL6A2):c.18178C>A

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

rs141257132 
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys)

rs387906607 
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.197010C>T

rs373369963 
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.2031C>T (p.Asp677=)

rs759646708 
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp)

rs863224861 
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.2220T>C (p.Asp740=)

rs61735830 
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.22G>A (p.Val8Met)

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

rs138371054 
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg)

rs267606747 
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.2422+7G>A

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

rs773282809 
NM_001849.3(COL6A2):c.2454C>T (p.Cys818=)

rs199499499 
NM_001849.3(COL6A2):c.2484G>A (p.Thr828=)

rs147199350 
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp)

rs373072443 
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln)

rs139552940 
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.2558G>A (p.Arg853Gln)

rs144830948 
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.2605G>A (p.Asp869Asn)

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

rs141021828 
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.2627G>A (p.Arg876His)

rs1012567148 
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val)

rs774521989 
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.2707G>A (p.Glu903Lys)

rs373611722 
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.2784C>T (p.Ile928=)

rs199501232 
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu)

rs117725825 
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.2880G>A (p.Ser960=)

rs375430758 
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.2937C>T (p.Asp979=)

rs150716220 
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.2983G>A (p.Ala995Thr)

rs35139588 
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=)

rs751494076 
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.316G>A (p.Glu106Lys)

rs141703710 
NM_001849.3(COL6A2):c.344G>A (p.Arg115Gln)

rs145352569 
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.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+9C>T

rs78822624 
NM_001849.3(COL6A2):c.735+7G>A

rs575365107 
NM_001849.3(COL6A2):c.7362A>G

rs1057518925 
NM_001849.3(COL6A2):c.759A>G (p.Glu253=)

rs140404854 
NM_001849.3(COL6A2):c.801+1G>A

rs794727715 
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.838G>C (p.Gly280Arg)

rs886043323 
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg)

rs267606748 
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+1G>C

rs1057517988 
NM_001849.3(COL6A2):c.942C>T (p.Ala314=)

rs531713008 
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 