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


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

rs794727121 
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.1056+5G>A

rs886044511 
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.1182+5G>C

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

rs746386684 
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn)

rs575394639 
NM_001848.2(COL6A1):c.1234G>A (p.Glu412Lys)

rs751779784 
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.1294C>A (p.Pro432Thr)

rs1436272876 
NM_001848.2(COL6A1):c.1315C>T (p.Arg439Trp)

rs368239109 
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr)

rs886057153 
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.13993C>T

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

rs762625409 
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.14G>A (p.Arg5His)

rs1556423460 
NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu)

rs1556428597 
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.1575C>T (p.Pro525=)

rs781031251 
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg)

rs764556767 
NM_001848.2(COL6A1):c.1619A>G (p.Lys540Arg)

rs1603593300 
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.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.1742G>C (p.Gly581Ala)

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

rs766478019 
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.1825T>C (p.Cys609Arg)

rs763495943 
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr)

rs768906709 
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.1945G>A (p.Glu649Lys)

rs764129993 
NM_001848.2(COL6A1):c.1959C>G (p.Phe653Leu)

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

rs748997622 
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.202C>T (p.Arg68Cys)

rs137964147 
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.2050G>A (p.Val684Met)

rs138312247 
NM_001848.2(COL6A1):c.2129C>T (p.Thr710Met)

rs765641686 
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.2191C>T (p.Arg731Cys)

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

rs562898957 
NM_001848.2(COL6A1):c.2343G>A (p.Gln781=)

rs755487987 
NM_001848.2(COL6A1):c.2434+4C>T

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

rs936641232 
NM_001848.2(COL6A1):c.2464+1G>A

rs113290209 
NM_001848.2(COL6A1):c.2481G>A (p.Pro827=)

rs772673965 
NM_001848.2(COL6A1):c.2518G>A (p.Val840Met)

rs751124572 
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.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.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.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.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.2768T>G (p.Val923Gly)

rs755340450 
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.2821C>T (p.Leu941Phe)

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

rs371111712 
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.286G>A (p.Glu96Lys)

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

rs763228065 
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met)

rs200959957 
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.2996G>A (p.Gly999Asp)

rs1603595132 
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.3056A>G (p.Gln1019Arg)

rs751518356 
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.355G>A (p.Ala119Thr)

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

rs571641824 
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.509G>C (p.Gly170Ala)

rs1309872535 
NM_001848.2(COL6A1):c.554A>G (p.Lys185Arg)

rs754667407 
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.665G>A (p.Arg222His)

rs780638665 
NM_001848.2(COL6A1):c.667G>A (p.Asp223Asn)

rs199842980 
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.717+4A>G

rs762867111 
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.789C>T (p.Gly263=)

rs148364156 
NM_001848.2(COL6A1):c.85G>A (p.Val29Met)

rs766057159 
NM_001848.2(COL6A1):c.880C>G (p.Pro294Ala)

rs141572895 
NM_001848.2(COL6A1):c.903+4C>T

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

rs759468291 
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.986G>A

rs886042599 
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA


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


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.1489G>A (p.Gly497Arg)


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.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.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.195710G>A


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


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


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


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.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.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.378C>T (p.Gly126=)


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.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.7396C>G


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


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.973C>T (p.Arg325Cys)


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

