NM_001848.2(COL6A1):c.*13G>A

rs376729246 
NM_001848.2(COL6A1):c.*145C>T

rs183023506 
NM_001848.2(COL6A1):c.*182A>G

rs886057159 
NM_001848.2(COL6A1):c.*199A>G

rs117826437 
NM_001848.2(COL6A1):c.*260A>G

rs1053331 
NM_001848.2(COL6A1):c.*294G>A

rs112057581 
NM_001848.2(COL6A1):c.*302G>T

rs538359005 
NM_001848.2(COL6A1):c.*343G>A

rs554489309 
NM_001848.2(COL6A1):c.*367C>A

rs546403892 
NM_001848.2(COL6A1):c.*379C>A

rs138073264 
NM_001848.2(COL6A1):c.*419A>G

rs9254 
NM_001848.2(COL6A1):c.*441G>A

rs149531381 
NM_001848.2(COL6A1):c.*526C>T

rs866939049 
NM_001848.2(COL6A1):c.*558_*560delCTC

rs886057160 
NM_001848.2(COL6A1):c.*575A>G

rs183666840 
NM_001848.2(COL6A1):c.*633T>C

rs886057161 
NM_001848.2(COL6A1):c.*635G>A

rs886057162 
NM_001848.2(COL6A1):c.*63_*64delAG

rs886057158 
NM_001848.2(COL6A1):c.*648C>T

rs755204063 
NM_001848.2(COL6A1):c.*729C>T

rs201623355 
NM_001848.2(COL6A1):c.*754C>T

rs886057163 
NM_001848.2(COL6A1):c.*785C>T

rs557900713 
NM_001848.2(COL6A1):c.*797C>T

rs576240028 
NM_001848.2(COL6A1):c.*814C>T

rs886057164 
NM_001848.2(COL6A1):c.*851T>C

rs886057165 
NM_001848.2(COL6A1):c.*87C>T

rs115289817 
NM_001848.2(COL6A1):c.*887C>T

rs142905348 
NM_001848.2(COL6A1):c.*940C>T

rs545323453 
NM_001848.2(COL6A1):c.*985C>T

rs778917156 
NM_001848.2(COL6A1):c.103C>A

rs568728524 
NM_001848.2(COL6A1):c.5C>G

rs7671 
NM_001848.2(COL6A1):c.65C>G

rs535807983 
NM_001848.2(COL6A1):c.76G>A

rs886057148 
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu)

rs142882745 
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=)

rs116343553 
NM_001848.2(COL6A1):c.105C>G (p.Pro35=)

rs145579577 
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=)

rs1980982 
NM_001848.2(COL6A1):c.1096G>A (p.Ala366Thr)

rs183994910 
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly)

rs149338158 
NM_001848.2(COL6A1):c.1119+13C>T

rs199655304 
NM_001848.2(COL6A1):c.112012G>A

rs115107397 
NM_001848.2(COL6A1):c.1179C>T (p.Asp393=)

rs182068143 
NM_001848.2(COL6A1):c.1182+3G>A

rs62215499 
NM_001848.2(COL6A1):c.1208C>G (p.Pro403Arg)

rs886057151 
NM_001848.2(COL6A1):c.1209C>G (p.Pro403=)

rs763249073 
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=)

rs148630223 
NM_001848.2(COL6A1):c.1255G>A (p.Gly419Ser)

rs745485695 
NM_001848.2(COL6A1):c.12738C>T

rs7280215 
NM_001848.2(COL6A1):c.1277G>A (p.Gly426Asp)

rs886057152 
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln)

rs151158105 
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=)

rs7279254 
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln)

rs35059000 
NM_001848.2(COL6A1):c.133615C>T

rs201003020 
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr)

rs886057153 
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu)

rs759834554 
NM_001848.2(COL6A1):c.1398+10G>A

rs143438559 
NM_001848.2(COL6A1):c.13993C>T

rs200095847 
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=)

rs80244281 
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val)

rs117340427 
NM_001848.2(COL6A1):c.1477C>A (p.Pro493Thr)

rs760275915 
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=)

rs139987124 
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=)

rs35134265 
NM_001848.2(COL6A1):c.1524+15G>A

rs116000285 
NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn)

rs201935658 
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys)

rs754384963 
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=)

rs139243418 
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=)

rs200023632 
NM_001848.2(COL6A1):c.161210G>A

rs141892165 
NM_001848.2(COL6A1):c.161215C>G

rs886057154 
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=)

rs369802454 
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=)

rs770099663 
NM_001848.2(COL6A1):c.1694G>A (p.Arg565Gln)

rs886057155 
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp)

rs143502850 
NM_001848.2(COL6A1):c.1710A>C (p.Ala570=)

rs763515261 
NM_001848.2(COL6A1):c.174113G>A

rs201063714 
NM_001848.2(COL6A1):c.1770G>A (p.Gly590=)

rs752980359 
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=)

rs74852641 
NM_001848.2(COL6A1):c.1776+13C>T

rs201734661 
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=)

rs148439285 
NM_001848.2(COL6A1):c.18146C>G

rs182804464 
NM_001848.2(COL6A1):c.182313C>T

rs571173076 
NM_001848.2(COL6A1):c.18238G>A

rs184666690 
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=)

rs142554239 
NM_001848.2(COL6A1):c.1890C>T (p.Asn630=)

rs886057156 
NM_001848.2(COL6A1):c.1956+15C>T

rs11701124 
NM_001848.2(COL6A1):c.195711C>T

rs8132521 
NM_001848.2(COL6A1):c.19575C>T

rs78224483 
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=)

rs370780432 
NM_001848.2(COL6A1):c.2019C>G (p.His673Gln)

rs141424786 
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys)

rs137964147 
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr)

rs138884734 
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln)

rs148962954 
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=)

rs8132678 
NM_001848.2(COL6A1):c.206710T>C

rs200727020 
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=)

rs147219060 
NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu)

rs753759904 
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys)

rs398123635 
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=)

rs138976133 
NM_001848.2(COL6A1):c.2250+6G>C

rs202212586 
NM_001848.2(COL6A1):c.2304G>C (p.Gln768His)

rs376567898 
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln)

rs200261890 
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=)

rs149910296 
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His)

rs140547835 
NM_001848.2(COL6A1):c.2434+15A>G

rs2236485 
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg)

rs11553518 
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=)

rs146662894 
NM_001848.2(COL6A1):c.2548C>A (p.Arg850Ser)

rs566453317 
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His)

rs1053312 
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=)

rs367832752 
NM_001848.2(COL6A1):c.261C>T (p.Asn87=)

rs770671793 
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=)

rs371763977 
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly)

rs140534207 
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=)

rs540554122 
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met)

rs150432347 
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp)

rs368307185 
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=)

rs1053315 
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu)

rs13051496 
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=)

rs13879 
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=)

rs115163637 
NM_001848.2(COL6A1):c.2752G>A (p.Asp918Asn)

rs750512162 
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=)

rs61735853 
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His)

rs144671871 
NM_001848.2(COL6A1):c.2793G>A (p.Ser931=)

rs148561616 
NM_001848.2(COL6A1):c.2796C>T (p.Ser932=)

rs1053320 
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu)

rs117583120 
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe)

rs147882179 
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=)

rs140427635 
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr)

rs150378645 
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=)

rs138062080 
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys)

rs149534094 
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met)

rs200959957 
NM_001848.2(COL6A1):c.2958G>C (p.Leu986=)

rs886057157 
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg)

rs141605607 
NM_001848.2(COL6A1):c.3054C>T (p.His1018=)

rs141237809 
NM_001848.2(COL6A1):c.324C>T (p.Gly108=)

rs138646508 
NM_001848.2(COL6A1):c.334G>A (p.Ala112Thr)

rs568865339 
NM_001848.2(COL6A1):c.349G>A (p.Val117Met)

rs150686304 
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala)

rs138899581 
NM_001848.2(COL6A1):c.428+14A>G

rs3746993 
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg)

rs756141940 
NM_001848.2(COL6A1):c.549C>T (p.Gly183=)

rs398123636 
NM_001848.2(COL6A1):c.579C>T (p.Pro193=)

rs61751027 
NM_001848.2(COL6A1):c.588+13C>A

rs754507 
NM_001848.2(COL6A1):c.588+19dup

rs111710378 
NM_001848.2(COL6A1):c.588+8C>G

rs398123638 
NM_001848.2(COL6A1):c.623C>T (p.Thr208Met)

rs372199631 
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys)

rs375217284 
NM_001848.2(COL6A1):c.645G>A (p.Ala215=)

rs115292913 
NM_001848.2(COL6A1):c.7399C>T

rs886057149 
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys)

rs145849970 
NM_001848.2(COL6A1):c.764dup (p.Arg256fs)

rs886057150 
NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu)

rs757230924 
NM_001848.2(COL6A1):c.903+14C>A

rs34495634 
NM_001848.2(COL6A1):c.930+13C>T

rs370271954 
NM_001848.2(COL6A1):c.9315C>T

rs371841573 
NM_001848.2(COL6A1):c.957+6C>T

rs374926748 
NM_001848.2(COL6A1):c.95810C>T

rs200508160 
NM_001848.2(COL6A1):c.981C>T (p.Ile327=)

rs138401567 
NM_001848.2(COL6A1):c.985G>A (p.Gly329Arg)

rs200835287 
NM_001848.2(COL6A1):c.997G>A (p.Val333Met)

rs201525908 
NM_001848.3(COL6A1):c.*138G>A


NM_001848.3(COL6A1):c.*146G>A


NM_001848.3(COL6A1):c.*171C>T


NM_001848.3(COL6A1):c.*236G>A


NM_001848.3(COL6A1):c.*343G>C


NM_001848.3(COL6A1):c.*369C>T


NM_001848.3(COL6A1):c.*447T>C


NM_001848.3(COL6A1):c.*675G>A


NM_001848.3(COL6A1):c.*78G>A


NM_001848.3(COL6A1):c.*923G>A


NM_001848.3(COL6A1):c.40C>T


NM_001848.3(COL6A1):c.1002+6T>C


NM_001848.3(COL6A1):c.105714C>T


NM_001848.3(COL6A1):c.1167A>C (p.Gly389=)


NM_001848.3(COL6A1):c.1366A>G (p.Arg456Gly)


NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)


NM_001848.3(COL6A1):c.1740+13G>T


NM_001848.3(COL6A1):c.17779C>T


NM_001848.3(COL6A1):c.1785G>A (p.Glu595=)


NM_001848.3(COL6A1):c.1822+11G>A


NM_001848.3(COL6A1):c.2030G>A (p.Arg677His)


NM_001848.3(COL6A1):c.227+11C>T


NM_001848.3(COL6A1):c.2287C>T


NM_001848.3(COL6A1):c.246513C>T


NM_001848.3(COL6A1):c.2524A>G (p.Ser842Gly)


NM_001848.3(COL6A1):c.2745C>T (p.Asp915=)


NM_001848.3(COL6A1):c.2798G>A (p.Gly933Asp)


NM_001848.3(COL6A1):c.2886C>T (p.Ala962=)


NM_001848.3(COL6A1):c.2917G>T (p.Val973Phe)


NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)


NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)


NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)

rs11553519 
NM_001848.3(COL6A1):c.583C>G (p.His195Asp)


NM_001848.3(COL6A1):c.594G>A (p.Pro198=)

rs376592866 
NM_001848.3(COL6A1):c.759+13C>T


NM_001848.3(COL6A1):c.826C>T (p.Leu276Phe)


NM_001848.3(COL6A1):c.884T>A (p.Val295Asp)


NM_001848.3(COL6A1):c.903+13C>A

