NC_000021.9:g.46125328del


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


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

rs1057522012 
NM_001849.3(COL6A2):c.1053+193G>A


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

rs1381119779 
NM_001849.3(COL6A2):c.1116+123G>A


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


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.1194C>T (p.Asn398=)


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

rs558981930 
NM_001849.3(COL6A2):c.1332+120A>C


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


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

rs199513044 
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.1476C>T (p.Pro492=)

rs772436808 
NM_001849.3(COL6A2):c.1521+10C>T


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

rs112197239 
NM_001849.3(COL6A2):c.1572+3G>A

rs372414400 
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=)

rs377476546 
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+17C>T

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

rs186428044 
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.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.18178C>G

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.2043C>T (p.Ile681=)

rs373514837 
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=)

rs114554195 
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.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+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_242317insCGGCCCGGCCCGGCCCGGCC

rs138363207 
NM_001849.3(COL6A2):c.2461+11G>A

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

rs1057002808 
NM_001849.3(COL6A2):c.246212G>A

rs369839157 
NM_001849.3(COL6A2):c.24625dupC

rs797044699 
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.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.2607C>T (p.Asp869=)

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

rs116817879 
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.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.2841C>T (p.Leu947=)

rs532522222 
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.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.3017C>T (p.Ala1006Val)

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

rs61735832 
NM_001849.3(COL6A2):c.333G>A (p.Pro111=)

rs370531466 
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.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.528G>A (p.Gln176=)

rs377585812 
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.726C>T (p.Ala242=)

rs767184248 
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


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

rs111639540 
NM_001849.3(COL6A2):c.84G>A (p.Pro28=)

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

rs373366455 
NM_001849.3(COL6A2):c.85614G>A

rs759917394 
NM_001849.3(COL6A2):c.999+14C>T

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


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

rs751366581 