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.1115A>G (p.Glu372Gly)

rs149338158 
NM_001848.2(COL6A1):c.1119+39C>T

rs74982956 
NM_001848.2(COL6A1):c.112012G>A

rs115107397 
NM_001848.2(COL6A1):c.1182+3G>A

rs62215499 
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=)

rs148630223 
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln)

rs151158105 
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln)

rs35059000 
NM_001848.2(COL6A1):c.1335+20G>C

rs9306146 
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu)

rs759834554 
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=)

rs144887329 
NM_001848.2(COL6A1):c.1398+10G>A

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

rs200095847 
NM_001848.2(COL6A1):c.13998C>G

rs749529856 
NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs)

rs878854398 
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.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.1584G>A (p.Pro528=)

rs139243418 
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=)

rs143755280 
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg)

rs764556767 
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=)

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

rs141892165 
NM_001848.2(COL6A1):c.16126C>T

rs143812383 
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=)

rs182425338 
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=)

rs369802454 
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg)

rs886043521 
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=)

rs770099663 
NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr)

rs144358858 
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp)

rs143502850 
NM_001848.2(COL6A1):c.1740+50C>T

rs148205490 
NM_001848.2(COL6A1):c.17416G>A

rs200334019 
NM_001848.2(COL6A1):c.1782C>T (p.Cys594=)

rs745847824 
NM_001848.2(COL6A1):c.18146C>G

rs182804464 
NM_001848.2(COL6A1):c.18238G>A

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

rs142554239 
NM_001848.2(COL6A1):c.19575C>T

rs78224483 
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=)

rs112104768 
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.2049C>T (p.Asn683=)

rs143695871 
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=)

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

rs200727020 
NM_001848.2(COL6A1):c.2109G>A (p.Thr703=)

rs760649238 
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=)

rs147219060 
NM_001848.2(COL6A1):c.2148G>A (p.Pro716=)

rs780032842 
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=)

rs369502543 
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=)

rs138976133 
NM_001848.2(COL6A1):c.2220G>T (p.Pro740=)

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

rs202212586 
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=)

rs149910296 
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=)

rs760768642 
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His)

rs140547835 
NM_001848.2(COL6A1):c.2434+15_2434+54del40

rs1064795349 
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg)

rs11553518 
NM_001848.2(COL6A1):c.2464+9C>T

rs368651226 
NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr)

rs529770550 
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=)

rs141463437 
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=)

rs367832752 
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=)

rs200124802 
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.2670G>A (p.Ser890=)

rs527265374 
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=)

rs372931456 
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=)

rs139018148 
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.2758C>T (p.Leu920=)

rs141620374 
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.2809A>G (p.Lys937Glu)

rs117583120 
NM_001848.2(COL6A1):c.2820G>A (p.Leu940=)

rs111451684 
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.2911G>A (p.Val971Met)

rs769795690 
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.347G>A (p.Ser116Asn)

rs11553519 
NM_001848.2(COL6A1):c.348C>T (p.Ser116=)

rs189444981 
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.381C>T (p.Thr127=)

rs75180385 
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val)

rs139648899 
NM_001848.2(COL6A1):c.423C>T (p.Leu141=)

rs373486149 
NM_001848.2(COL6A1):c.424G>C (p.Val142Leu)

rs144282452 
NM_001848.2(COL6A1):c.428+39C>G

rs148766287 
NM_001848.2(COL6A1):c.531C>T (p.Asn177=)

rs767176038 
NM_001848.2(COL6A1):c.579C>T (p.Pro193=)

rs61751027 
NM_001848.2(COL6A1):c.588+37A>G

rs117470181 
NM_001848.2(COL6A1):c.588+8C>G

rs398123638 
NM_001848.2(COL6A1):c.609C>T (p.Ile203=)

rs369590506 
NM_001848.2(COL6A1):c.624G>A (p.Thr208=)

rs573282005 
NM_001848.2(COL6A1):c.645G>A (p.Ala215=)

rs115292913 
NM_001848.2(COL6A1):c.666C>T (p.Arg222=)

rs372581026 
NM_001848.2(COL6A1):c.717+4A>G

rs762867111 
NM_001848.2(COL6A1):c.73918C>T

rs144843800 
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys)

rs145849970 
NM_001848.2(COL6A1):c.777G>A (p.Pro259=)

rs61735854 
NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu)

rs757230924 
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser)

rs398123640 
NM_001848.2(COL6A1):c.846_854delAGCCGGAGA (p.Glu282_Gly284del)

rs1556425474 
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg)

rs121912938 
NM_001848.2(COL6A1):c.85918T>A

rs398123641 
NM_001848.2(COL6A1):c.85920C>T

rs78884675 
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg)

rs398123643 
NM_001848.2(COL6A1):c.9042A>G

rs1057519174 
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg)

rs794727028 
NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp)

rs886044231 
NM_001848.2(COL6A1):c.957_957+7del

rs1556425687 
NM_001848.2(COL6A1):c.95810C>T

rs200508160 
NM_001848.2(COL6A1):c.95817G>A

rs79364611 
NM_001848.2(COL6A1):c.993C>T (p.Asp331=)

rs373948031 
NM_001848.2(COL6A1):c.996C>T (p.Gly332=)

rs11702055 