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

rs7671 
NM_001848.2(COL6A1):c.8C>A

rs886038491 
NM_001848.2(COL6A1):c.1002+37A>G

rs11702174 
NM_001848.2(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG

rs1556425767 
NM_001848.2(COL6A1):c.1002+43A>G

rs11702175 
NM_001848.2(COL6A1):c.1002+43_1002+52delAATGGGGCGA

rs398123629 
NM_001848.2(COL6A1):c.1002+43_1002+81delAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA

rs72435610 
NM_001848.2(COL6A1):c.1002+45T>C

rs368643049 
NM_001848.2(COL6A1):c.1002+50C>A

rs11702079 
NM_001848.2(COL6A1):c.1002+50C>T

rs11702079 
NM_001848.2(COL6A1):c.100315delT

rs769487412 
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.1119+13C>T

rs199655304 
NM_001848.2(COL6A1):c.1119+19delC

rs750949530 
NM_001848.2(COL6A1):c.1119+39C>T

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

rs115107397 
NM_001848.2(COL6A1):c.1182+20C>T

rs7275706 
NM_001848.2(COL6A1):c.1182+3G>A

rs62215499 
NM_001848.2(COL6A1):c.1186C>G (p.Gln396Glu)

rs886038493 
NM_001848.2(COL6A1):c.1236+14C>T

rs372483312 
NM_001848.2(COL6A1):c.1272+11C>T

rs371785147 
NM_001848.2(COL6A1):c.12738C>T

rs7280215 
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.1335+20G>C

rs9306146 
NM_001848.2(COL6A1):c.1335+27A>C

rs2850173 
NM_001848.2(COL6A1):c.133615C>T

rs201003020 
NM_001848.2(COL6A1):c.133617G>A

rs185337381 
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=)

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

rs143438559 
NM_001848.2(COL6A1):c.139932T>C

rs2839077 
NM_001848.2(COL6A1):c.13993C>T

rs200095847 
NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs)

rs878854398 
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=)

rs80244281 
NM_001848.2(COL6A1):c.1461+18C>A

rs2276254 
NM_001848.2(COL6A1):c.1461+41dupG

rs3216137 
NM_001848.2(COL6A1):c.146219G>A

rs191393017 
NM_001848.2(COL6A1):c.146236A>G

rs2276255 
NM_001848.2(COL6A1):c.14628C>T

rs199849694 
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.1524+19G>A

rs2276256 
NM_001848.2(COL6A1):c.1524+19G>C

rs2276256 
NM_001848.2(COL6A1):c.152560A>G

rs3737437 
NM_001848.2(COL6A1):c.15259C>T

rs768508076 
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=)

rs139243418 
NM_001848.2(COL6A1):c.1611+20C>T

rs369940697 
NM_001848.2(COL6A1):c.1611+48C>T

rs886038494 
NM_001848.2(COL6A1):c.1611+9G>A

rs186975997 
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.1671C>T (p.Asp557=)

rs770099663 
NM_001848.2(COL6A1):c.1674+15G>A

rs749423625 
NM_001848.2(COL6A1):c.1674+46_1674+47dupCA

rs200245740 
NM_001848.2(COL6A1):c.167516C>T

rs200659458 
NM_001848.2(COL6A1):c.167555C>T

rs4819179 
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp)

rs143502850 
NM_001848.2(COL6A1):c.1716del (p.Tyr573Thrfs)

rs878854381 
NM_001848.2(COL6A1):c.1740+50C>T

rs148205490 
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.1782C>T (p.Cys594=)

rs745847824 
NM_001848.2(COL6A1):c.1813+25T>G

rs191946565 
NM_001848.2(COL6A1):c.18146C>G

rs182804464 
NM_001848.2(COL6A1):c.1822+42G>C

rs13053065 
NM_001848.2(COL6A1):c.1822+45C>G

rs7276098 
NM_001848.2(COL6A1):c.1822+45C>T

rs7276098 
NM_001848.2(COL6A1):c.1822+80G>A

rs7283989 
NM_001848.2(COL6A1):c.1822+88A>G

rs7276782 
NM_001848.2(COL6A1):c.182331C>T

rs117330552 
NM_001848.2(COL6A1):c.18238G>A

rs184666690 
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr)

rs768906709 
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=)

rs142554239 
NM_001848.2(COL6A1):c.1887G>A (p.Gln629=)

rs1447613750 
NM_001848.2(COL6A1):c.1941G>A (p.Arg647=)

rs139914666 
NM_001848.2(COL6A1):c.1956+15C>T

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

rs8132521 
NM_001848.2(COL6A1):c.195717C>T

rs370007363 
NM_001848.2(COL6A1):c.19575C>T

rs78224483 
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.2066+15C>A

rs201407082 
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+19G>C

rs1057521436 
NM_001848.2(COL6A1):c.2250+6G>C

rs202212586 
NM_001848.2(COL6A1):c.225129C>T

rs35796750 
NM_001848.2(COL6A1):c.227+15C>T

rs199730779 
NM_001848.2(COL6A1):c.2298A>G (p.Ser766=)

rs761665024 
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln)

rs200261890 
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+15A>G

rs2236485 
NM_001848.2(COL6A1):c.2434+15_2434+54del40

rs1064795349 
NM_001848.2(COL6A1):c.2434+20G>A

rs2236486 
NM_001848.2(COL6A1):c.2434+55G>A

rs2236487 
NM_001848.2(COL6A1):c.243519C>T

rs115181427 
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg)

rs11553518 
NM_001848.2(COL6A1):c.2464+11C>T

rs202074876 
NM_001848.2(COL6A1):c.2464+18C>T

rs754626987 
NM_001848.2(COL6A1):c.2464+9C>T

rs368651226 
NM_001848.2(COL6A1):c.24654G>A

rs769559126 
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=)

rs146662894 
NM_001848.2(COL6A1):c.2480C>T (p.Pro827Leu)

rs761774962 
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.2549G>A (p.Arg850His)

rs1053312 
NM_001848.2(COL6A1):c.2569G>A (p.Glu857Lys)

rs570688674 
NM_001848.2(COL6A1):c.2573G>A (p.Arg858His)

rs537763400 
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.2642C>T (p.Thr881Met)

rs150432347 
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.2670G>A (p.Ser890=)

rs527265374 
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.2796C>T (p.Ser932=)

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

rs117583120 
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=)

rs140427635 
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.2874C>T (p.Ala958=)

rs769441014 
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln)

rs141663473 
NM_001848.2(COL6A1):c.2994C>T (p.Tyr998=)

rs148405880 
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.3078G>A (p.Ala1026=)


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.394G>A (p.Ala132Thr)


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

rs373486149 
NM_001848.2(COL6A1):c.423C>T (p.Leu141=)

rs373486149 
NM_001848.2(COL6A1):c.428+14A>G

rs3746993 
NM_001848.2(COL6A1):c.428+39C>G

rs148766287 
NM_001848.2(COL6A1):c.428+40G>A

rs71324475 
NM_001848.2(COL6A1):c.42919G>A

rs741956 
NM_001848.2(COL6A1):c.42930C>T

rs190029634 
NM_001848.2(COL6A1):c.510G>A (p.Gly170=)

rs373970248 
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+19dupC

rs111710378 
NM_001848.2(COL6A1):c.588+37A>G

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

rs398123638 
NM_001848.2(COL6A1):c.588+9C>T

rs776935888 
NM_001848.2(COL6A1):c.615G>A (p.Thr205=)

rs192125814 
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+32C>T

rs114454809 
NM_001848.2(COL6A1):c.717+33G>A

rs373394656 
NM_001848.2(COL6A1):c.73911delT

rs573196191 
NM_001848.2(COL6A1):c.73918C>T

rs144843800 
NM_001848.2(COL6A1):c.73951C>T

rs62215498 
NM_001848.2(COL6A1):c.759+16G>A

rs373366336 
NM_001848.2(COL6A1):c.76011C>T

rs1556425140 
NM_001848.2(COL6A1):c.777G>A (p.Pro259=)

rs61735854 
NM_001848.2(COL6A1):c.80536G>A

rs202231424 
NM_001848.2(COL6A1):c.85918T>A

rs398123641 
NM_001848.2(COL6A1):c.85919A>G

rs2277814 
NM_001848.2(COL6A1):c.85920C>T

rs78884675 
NM_001848.2(COL6A1):c.903+14C>A

rs34495634 
NM_001848.2(COL6A1):c.930+14G>A

rs766551754 
NM_001848.2(COL6A1):c.930+20G>C

rs765683206 
NM_001848.2(COL6A1):c.930+30T>C

rs148909683 
NM_001848.2(COL6A1):c.9314G>A

rs758332867 
NM_001848.2(COL6A1):c.95817G>A

rs79364611 
NM_001848.2(COL6A1):c.97+20G>A

rs114178849 
NM_001848.2(COL6A1):c.981C>T (p.Ile327=)

rs138401567 
NM_001848.2(COL6A1):c.993C>T (p.Asp331=)

rs373948031 
NM_001848.2(COL6A1):c.997G>A (p.Val333Met)

rs201525908 