NC_000021.9:g.(?_45981831)_(46004033_?)dup


NC_000021.9:g.(?_45986526)_(45987654_?)del


NC_000021.9:g.(?_45989064)_(45989157_?)del


NM_001848.2(COL6A1):c.1002+6_1002+88del

rs1556425727 
NM_001848.2(COL6A1):c.100310C>T

rs182440627 
NM_001848.2(COL6A1):c.10031G>A

rs886043330 
NM_001848.2(COL6A1):c.10031G>T

rs886043330 
NM_001848.2(COL6A1):c.10032A>C

rs797045477 
NM_001848.2(COL6A1):c.10032A>G

rs797045477 
NM_001848.2(COL6A1):c.10032del

rs1556425835 
NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu)

rs794727121 
NM_001848.2(COL6A1):c.1015T>C (p.Tyr339His)

rs186775751 
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys)

rs886043321 
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp)

rs121912935 
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val)

rs121912935 
NM_001848.2(COL6A1):c.1030G>C (p.Gly344Arg)

rs1569518250 
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu)

rs142882745 
NM_001848.2(COL6A1):c.1047C>T (p.Pro349=)

rs202227298 
NM_001848.2(COL6A1):c.1056+5G>A

rs886044511 
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.1115A>G (p.Glu372Gly)

rs149338158 
NM_001848.2(COL6A1):c.1122C>T (p.Gly374=)

rs373535692 
NM_001848.2(COL6A1):c.1160G>A (p.Ser387Asn)

rs756884829 
NM_001848.2(COL6A1):c.1179C>T (p.Asp393=)

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

rs62215499 
NM_001848.2(COL6A1):c.1182+5G>C

rs1473206283 
NM_001848.2(COL6A1):c.1190C>T (p.Pro397Leu)

rs746386684 
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=)

rs557250335 
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn)

rs575394639 
NM_001848.2(COL6A1):c.1233C>T (p.Asp411=)

rs140478280 
NM_001848.2(COL6A1):c.1234G>A (p.Glu412Lys)

rs751779784 
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.1271G>A (p.Arg424Gln)

rs761729281 
NM_001848.2(COL6A1):c.12738C>T

rs7280215 
NM_001848.2(COL6A1):c.1294C>A (p.Pro432Thr)

rs1436272876 
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.1315C>T (p.Arg439Trp)

rs368239109 
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln)

rs35059000 
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr)

rs886057153 
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=)

rs144887329 
NM_001848.2(COL6A1):c.1378G>A (p.Val460Ile)

rs375452881 
NM_001848.2(COL6A1):c.1378G>T (p.Val460Phe)

rs375452881 
NM_001848.2(COL6A1):c.1379T>C (p.Val460Ala)

rs140735590 
NM_001848.2(COL6A1):c.1397C>T (p.Pro466Leu)

rs746962124 
NM_001848.2(COL6A1):c.1398+10G>A

rs143438559 
NM_001848.2(COL6A1):c.1398+2T>G

rs1569518481 
NM_001848.2(COL6A1):c.13993C>T

rs200095847 
NM_001848.2(COL6A1):c.1437C>T (p.Gly479=)

rs762625409 
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=)

rs80244281 
NM_001848.2(COL6A1):c.1447C>T (p.Pro483Ser)

rs756017426 
NM_001848.2(COL6A1):c.1459G>A (p.Glu487Lys)

rs779320527 
NM_001848.2(COL6A1):c.14628C>T

rs199849694 
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val)

rs117340427 
NM_001848.2(COL6A1):c.148del (p.Ala49_Leu50insTer)

rs1556423728 
NM_001848.2(COL6A1):c.14G>A (p.Arg5His)

rs1556423460 
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=)

rs139987124 
NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu)

rs1556428597 
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=)

rs35134265 
NM_001848.2(COL6A1):c.1540G>A (p.Ala514Thr)

rs760815168 
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.1566C>T (p.Pro522=)

rs753063150 
NM_001848.2(COL6A1):c.1575+1G>A

rs1002726737 
NM_001848.2(COL6A1):c.1575C>T (p.Pro525=)

rs781031251 
NM_001848.2(COL6A1):c.15761G>A

rs112814811 
NM_001848.2(COL6A1):c.15762_15761del

rs1569518725 
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val)

rs121912934 
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.1611+8C>T

rs376055208 
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.1619A>G (p.Lys540Arg)

rs1603593300 
NM_001848.2(COL6A1):c.162C>T (p.Pro54=)

rs775062782 
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=)

rs182425338 
NM_001848.2(COL6A1):c.1656C>T (p.Ala552=)

rs377213930 
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.1681G>A (p.Asp561Asn)

rs140517685 
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val)

rs374315921 
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.1712A>C (p.Lys571Thr)

rs751040647 
NM_001848.2(COL6A1):c.1729G>A (p.Glu577Lys)

rs552634753 
NM_001848.2(COL6A1):c.1732G>A (p.Gly578Ser)

rs778884385 
NM_001848.2(COL6A1):c.17416G>A

rs200334019 
NM_001848.2(COL6A1):c.1742G>C (p.Gly581Ala)

rs1462355816 
NM_001848.2(COL6A1):c.1745C>T (p.Pro582Leu)

rs766478019 
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=)

rs74852641 
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.1783G>A (p.Glu595Lys)

rs367650141 
NM_001848.2(COL6A1):c.18146C>G

rs182804464 
NM_001848.2(COL6A1):c.18231G>T

rs1569519030 
NM_001848.2(COL6A1):c.18238G>A

rs184666690 
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg)

rs763495943 
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.1837C>A (p.Pro613Thr)

rs200770631 
NM_001848.2(COL6A1):c.1848_1850delCCT

rs1085307560 
NM_001848.2(COL6A1):c.1855G>A (p.Val619Met)

rs150938324 
NM_001848.2(COL6A1):c.185T>G (p.Val62Gly)

rs1603589342 
NM_001848.2(COL6A1):c.1877T>C (p.Ile626Thr)

rs781626943 
NM_001848.2(COL6A1):c.1908C>G (p.Asp636Glu)

rs886042572 
NM_001848.2(COL6A1):c.1930C>T (p.Arg644Trp)

rs146622557 
NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln)

rs398123634 
NM_001848.2(COL6A1):c.1941G>A (p.Arg647=)

rs139914666 
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys)

rs764129993 
NM_001848.2(COL6A1):c.19574A>G

rs184484842 
NM_001848.2(COL6A1):c.19575C>T

rs78224483 
NM_001848.2(COL6A1):c.1959C>G (p.Phe653Leu)

rs112104768 
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=)

rs112104768 
NM_001848.2(COL6A1):c.1979C>T (p.Ala660Val)

rs748997622 
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=)

rs370780432 
NM_001848.2(COL6A1):c.1982G>A (p.Gly661Asp)

rs771702139 
NM_001848.2(COL6A1):c.2009T>C (p.Met670Thr)

rs776241591 
NM_001848.2(COL6A1):c.2021T>G (p.Val674Gly)

rs1255698056 
NM_001848.2(COL6A1):c.2022G>A (p.Val674=)

rs764099825 
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.2044C>T (p.Arg682Trp)

rs777378283 
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.2050G>A (p.Val684Met)

rs138312247 
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=)

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

rs200727020 
NM_001848.2(COL6A1):c.20676A>G

rs113876477 
NM_001848.2(COL6A1):c.2129C>T (p.Thr710Met)

rs765641686 
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=)

rs147219060 
NM_001848.2(COL6A1):c.2132G>A (p.Arg711Gln)

rs766956281 
NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu)

rs755589190 
NM_001848.2(COL6A1):c.2157G>C (p.Pro719=)

rs377152990 
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=)

rs369502543 
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys)

rs398123635 
NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala)

rs562898957 
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.2343G>A (p.Gln781=)

rs755487987 
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln)

rs200261890 
NM_001848.2(COL6A1):c.2352C>T (p.Pro784=)

rs377558756 
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=)

rs149910296 
NM_001848.2(COL6A1):c.2358C>T (p.Leu786=)

rs886042391 
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.2431_2434+36del

rs759918870 
NM_001848.2(COL6A1):c.2434+15_2434+54del

rs1064795349 
NM_001848.2(COL6A1):c.2434+4C>T

rs202147670 
NM_001848.2(COL6A1):c.2437A>G (p.Lys813Glu)

rs936641232 
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg)

rs11553518 
NM_001848.2(COL6A1):c.2464+1G>A

rs113290209 
NM_001848.2(COL6A1):c.2464+9C>T

rs368651226 
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=)

rs146662894 
NM_001848.2(COL6A1):c.2481G>A (p.Pro827=)

rs772673965 
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=)

rs141463437 
NM_001848.2(COL6A1):c.2518G>A (p.Val840Met)

rs751124572 
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His)

rs1053312 
NM_001848.2(COL6A1):c.2553C>T (p.Phe851=)

rs370632963 
NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro)

rs748327110 
NM_001848.2(COL6A1):c.2561G>A (p.Arg854His)

rs200732314 
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.2595G>A (p.Thr865=)

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

rs200124802 
NM_001848.2(COL6A1):c.2603C>T (p.Ala868Val)

rs565089447 
NM_001848.2(COL6A1):c.2611G>A (p.Val871Met)

rs374685631 
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp)

rs368561027 
NM_001848.2(COL6A1):c.2615G>A (p.Arg872Gln)

rs377586358 
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.2653C>T (p.Arg885Cys)

rs746298580 
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp)

rs368307185 
NM_001848.2(COL6A1):c.2663G>A (p.Arg888Gln)

rs138351067 
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.2694G>A (p.Thr898=)

rs372931456 
NM_001848.2(COL6A1):c.269C>T (p.Ala90Val)

rs766517983 
NM_001848.2(COL6A1):c.2705G>A (p.Ser902Asn)

rs757422397 
NM_001848.2(COL6A1):c.2713G>A (p.Asp905Asn)

rs149331149 
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.2743G>A (p.Asp915Asn)

rs763910773 
NM_001848.2(COL6A1):c.2746G>A (p.Val916Ile)

rs563043611 
NM_001848.2(COL6A1):c.2752G>A (p.Asp918Asn)

rs750512162 
NM_001848.2(COL6A1):c.2758C>T (p.Leu920=)

rs141620374 
NM_001848.2(COL6A1):c.2768T>G (p.Val923Gly)

rs755340450 
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.2783G>T (p.Arg928Leu)

rs144671871 
NM_001848.2(COL6A1):c.2784C>T (p.Arg928=)

rs775569169 
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys)

rs145846228 
NM_001848.2(COL6A1):c.2800G>A (p.Ala934Thr)

rs147716407 
NM_001848.2(COL6A1):c.2803G>A (p.Ala935Thr)

rs766416007 
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.2821C>T (p.Leu941Phe)

rs147882179 
NM_001848.2(COL6A1):c.2852C>T (p.Thr951Met)

rs371111712 
NM_001848.2(COL6A1):c.2853G>A (p.Thr951=)

rs890068806 
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.2857G>T (p.Ala953Ser)

rs150378645 
NM_001848.2(COL6A1):c.285C>G (p.Asp95Glu)

rs145811554 
NM_001848.2(COL6A1):c.2863A>G (p.Ile955Val)

rs373070436 
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.286G>A (p.Glu96Lys)

rs759023976 
NM_001848.2(COL6A1):c.2873C>A (p.Ala958Asp)

rs763228065 
NM_001848.2(COL6A1):c.2874C>T (p.Ala958=)

rs769441014 
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met)

rs200959957 
NM_001848.2(COL6A1):c.2876T>C (p.Val959Ala)

rs144814689 
NM_001848.2(COL6A1):c.2890C>T (p.Arg964Trp)

rs375007666 
NM_001848.2(COL6A1):c.2899A>G (p.Ile967Val)

rs777671647 
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met)

rs769795690 
NM_001848.2(COL6A1):c.2920G>A (p.Val974Met)

rs751999785 
NM_001848.2(COL6A1):c.2941C>A (p.Pro981Thr)

rs1569519253 
NM_001848.2(COL6A1):c.2950C>T (p.Arg984Cys)

rs568039462 
NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile)

rs781394145 
NM_001848.2(COL6A1):c.2963C>G (p.Thr988Ser)

rs746046225 
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln)

rs141663473 
NM_001848.2(COL6A1):c.2996G>A (p.Gly999Asp)

rs1603595132 
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg)

rs141605607 
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=)

rs150509473 
NM_001848.2(COL6A1):c.3040C>T (p.Arg1014Cys)

rs376764211 
NM_001848.2(COL6A1):c.3041G>A (p.Arg1014His)

rs369764291 
NM_001848.2(COL6A1):c.3054C>T (p.His1018=)

rs141237809 
NM_001848.2(COL6A1):c.3056A>G (p.Gln1019Arg)

rs751518356 
NM_001848.2(COL6A1):c.3078G>A (p.Ala1026=)

rs190043330 
NM_001848.2(COL6A1):c.324C>T (p.Gly108=)

rs138646508 
NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser)

rs368580280 
NM_001848.2(COL6A1):c.331G>A (p.Asp111Asn)

rs1309822720 
NM_001848.2(COL6A1):c.334G>A (p.Ala112Thr)

rs568865339 
NM_001848.2(COL6A1):c.344G>A (p.Ser115Asn)

rs372627181 
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.355G>A (p.Ala119Thr)

rs149392243 
NM_001848.2(COL6A1):c.356C>T (p.Ala119Val)

rs571641824 
NM_001848.2(COL6A1):c.357G>A (p.Ala119=)

rs747037863 
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg)

rs121912936 
NM_001848.2(COL6A1):c.375G>C (p.Lys125Asn)

rs1603589594 
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val)

rs1300015385 
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+1G>A

rs1569517717 
NM_001848.2(COL6A1):c.509G>C (p.Gly170Ala)

rs1309872535 
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg)

rs756141940 
NM_001848.2(COL6A1):c.554A>G (p.Lys185Arg)

rs754667407 
NM_001848.2(COL6A1):c.579C>T (p.Pro193=)

rs61751027 
NM_001848.2(COL6A1):c.588+8C>G

rs398123638 
NM_001848.2(COL6A1):c.58C>T (p.Gln20Ter)

rs1603589167 
NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys)

rs749628937 
NM_001848.2(COL6A1):c.596G>A (p.Arg199His)

rs201213605 
NM_001848.2(COL6A1):c.5G>A (p.Arg2Lys)

rs1305504243 
NM_001848.2(COL6A1):c.621C>A (p.His207Gln)

rs866987981 
NM_001848.2(COL6A1):c.623C>T (p.Thr208Met)

rs372199631 
NM_001848.2(COL6A1):c.631C>G (p.Arg211Gly)

rs375217284 
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys)

rs375217284 
NM_001848.2(COL6A1):c.641C>T (p.Thr214Met)

rs369123247 
NM_001848.2(COL6A1):c.645G>A (p.Ala215=)

rs115292913 
NM_001848.2(COL6A1):c.665G>A (p.Arg222His)

rs780638665 
NM_001848.2(COL6A1):c.666C>T (p.Arg222=)

rs372581026 
NM_001848.2(COL6A1):c.667G>A (p.Asp223Asn)

rs199842980 
NM_001848.2(COL6A1):c.669C>T (p.Asp223=)

rs552000247 
NM_001848.2(COL6A1):c.678G>A (p.Glu226=)

rs1370178953 
NM_001848.2(COL6A1):c.680C>T (p.Ala227Val)

rs770597799 
NM_001848.2(COL6A1):c.697G>A (p.Asp233Asn)

rs1259945808 
NM_001848.2(COL6A1):c.705C>T (p.Ile235=)

rs536786554 
NM_001848.2(COL6A1):c.717+4A>G

rs762867111 
NM_001848.2(COL6A1):c.717+9C>T

rs183868804 
NM_001848.2(COL6A1):c.726C>T (p.Asn242=)

rs142102852 
NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu)

rs748153811 
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys)

rs145849970 
NM_001848.2(COL6A1):c.763G>A (p.Ala255Thr)

rs145473829 
NM_001848.2(COL6A1):c.777G>A (p.Pro259=)

rs61735854 
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val)

rs886043351 
NM_001848.2(COL6A1):c.789C>T (p.Gly263=)

rs148364156 
NM_001848.2(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)

rs1569518070 
NM_001848.2(COL6A1):c.811C>T (p.Arg271Ter)

rs1391624796 
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg)

rs398123640 
NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp)

rs1556425467 
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val)

rs1556425468 
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg)

rs267606746 
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del)

rs1556425474 
NM_001848.2(COL6A1):c.8591G>C

rs1556425531 
NM_001848.2(COL6A1):c.859G>A (p.Gly287Arg)

rs1057521152 
NM_001848.2(COL6A1):c.85G>A (p.Val29Met)

rs766057159 
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg)

rs121912939 
NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp)

rs121912939 
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg)

rs398123643 
NM_001848.2(COL6A1):c.878G>A (p.Gly293Glu)

rs1603590641 
NM_001848.2(COL6A1):c.880C>G (p.Pro294Ala)

rs141572895 
NM_001848.2(COL6A1):c.887G>T (p.Gly296Val)

rs1603590649 
NM_001848.2(COL6A1):c.903+1G>T

rs1569518119 
NM_001848.2(COL6A1):c.903+4C>T

rs200380846 
NM_001848.2(COL6A1):c.903+5G>A

rs759468291 
NM_001848.2(COL6A1):c.905G>A (p.Gly302Glu)

rs1556425566 
NM_001848.2(COL6A1):c.930+189C>T

rs1556425596 
NM_001848.2(COL6A1):c.9311G>A

rs886042354 
NM_001848.2(COL6A1):c.9311G>C

rs886042354 
NM_001848.2(COL6A1):c.9315C>T

rs371841573 
NM_001848.2(COL6A1):c.9316C>A

rs778657187 
NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg)

rs794727059 
NM_001848.2(COL6A1):c.957+6C>G

rs374926748 
NM_001848.2(COL6A1):c.957G>A (p.Lys319=)

rs1057520625 
NM_001848.2(COL6A1):c.957_957+7del

rs1556425687 
NM_001848.2(COL6A1):c.9582A>G

rs1556425717 
NM_001848.2(COL6A1):c.986G>A

rs886042599 
NM_001848.2(COL6A1):c.981C>T (p.Ile327=)

rs138401567 
NM_001848.2(COL6A1):c.984C>T (p.Asp328=)

rs781038607 
NM_001848.2(COL6A1):c.993C>T (p.Asp331=)

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

rs11702055 
NM_001848.2(COL6A1):c.997G>A (p.Val333Met)

rs201525908 
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA


NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe)


NM_001848.3(COL6A1):c.1056+1G>A

rs398123631 
NM_001848.3(COL6A1):c.1056+1G>T


NM_001848.3(COL6A1):c.1056+2T>C

rs797044456 
NM_001848.3(COL6A1):c.1056+3A>C


NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)


NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)


NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)


NM_001848.3(COL6A1):c.1236+3G>A


NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)


NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)


NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)


NM_001848.3(COL6A1):c.1488C>T (p.Ala496=)

rs776768334 
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)


NM_001848.3(COL6A1):c.1521A>G (p.Glu507=)

rs781233511 
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)


NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)


NM_001848.3(COL6A1):c.1575+2dup


NM_001848.3(COL6A1):c.1575+6T>C


NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)


NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)


NM_001848.3(COL6A1):c.1591del (p.Arg531fs)


NM_001848.3(COL6A1):c.16123C>T


NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)


NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn)


NM_001848.3(COL6A1):c.167510T>A


NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)


NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)


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


NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)


NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)


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


NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)


NM_001848.3(COL6A1):c.17773C>T


NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)


NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)


NM_001848.3(COL6A1):c.1950G>A (p.Leu650=)

rs375448277 
NM_001848.3(COL6A1):c.195710G>A


NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=)

rs121912937 
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)


NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)


NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)

rs377455608 
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)


NM_001848.3(COL6A1):c.2066+2T>C


NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)


NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp)


NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)


NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)


NM_001848.3(COL6A1):c.2434+7A>C

rs769385161 
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)


NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys)


NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)


NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)


NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)


NM_001848.3(COL6A1):c.2919C>T (p.Val973=)

rs764490258 
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)


NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)


NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)


NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu)


NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)


NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu)


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

rs11553519 
NM_001848.3(COL6A1):c.378C>T (p.Gly126=)


NM_001848.3(COL6A1):c.393C>T (p.Cys131=)

rs1020779562 
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)


NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)


NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)


NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)


NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)


NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)


NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)

rs1603589162 
NM_001848.3(COL6A1):c.5893C>T


NM_001848.3(COL6A1):c.650A>T (p.Asp217Val)


NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)


NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)


NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)


NM_001848.3(COL6A1):c.706G>A (p.Val236Met)


NM_001848.3(COL6A1):c.738+1G>T


NM_001848.3(COL6A1):c.7396C>G


NM_001848.3(COL6A1):c.7397C>T

rs1603590124 
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)


NM_001848.3(COL6A1):c.804+1G>A


NM_001848.3(COL6A1):c.8052A>C


NM_001848.3(COL6A1):c.8052A>T


NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg)


NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)

rs201093313 
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)


NM_001848.3(COL6A1):c.842_858+7del


NM_001848.3(COL6A1):c.850G>A

rs121912938 
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)


NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)

rs1603590637 
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)


NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)


NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)


NM_001848.3(COL6A1):c.982_103del

rs1556423703 
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)

