NC_000021.9:g.46132855G>A


NM_001849.3(COL6A2):c.*105C>T

rs538537601 
NM_001849.3(COL6A2):c.*106G>A

rs185393384 
NM_001849.3(COL6A2):c.*121C>A

rs886057170 
NM_001849.3(COL6A2):c.*139G>A

rs774514501 
NM_001849.3(COL6A2):c.*147C>T

rs560095085 
NM_001849.3(COL6A2):c.*202C>T

rs886057171 
NM_001849.3(COL6A2):c.*307G>A

rs532914531 
NM_001849.3(COL6A2):c.*31C>T

rs886057169 
NM_001849.3(COL6A2):c.*45G>A

rs552240091 
NM_001849.3(COL6A2):c.*56T>G

rs148337125 
NM_001849.3(COL6A2):c.*5G>A

rs377195134 
NM_001849.3(COL6A2):c.*66C>G

rs568256520 
NM_001849.3(COL6A2):c.*88G>C

rs369124688 
NM_001849.3(COL6A2):c.1013G>A (p.Arg338His)

rs760872485 
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg)

rs199929757 
NM_001849.3(COL6A2):c.1071G>A (p.Pro357=)

rs746727003 
NM_001849.3(COL6A2):c.1105C>T (p.Gln369Ter)

rs1568930865 
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=)

rs144482400 
NM_001849.3(COL6A2):c.115+2T>C

rs770842374 
NM_001849.3(COL6A2):c.11611G>A

rs886057166 
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=)

rs140027285 
NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn)

rs2839110 
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=)

rs61735827 
NM_001849.3(COL6A2):c.1269G>C (p.Pro423=)

rs144136807 
NM_001849.3(COL6A2):c.1312G>A (p.Asp438Asn)

rs202039679 
NM_001849.3(COL6A2):c.133310C>G

rs199513044 
NM_001849.3(COL6A2):c.13338T>C

rs73159701 
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn)

rs535007570 
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=)

rs750842859 
NM_001849.3(COL6A2):c.138C>T (p.His46=)

rs201753549 
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=)

rs149077114 
NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp)

rs727502829 
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln)

rs61735828 
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr)

rs75581470 
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His)

rs267606749 
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser)

rs141166141 
NM_001849.3(COL6A2):c.1560C>G (p.Pro520=)

rs112197239 
NM_001849.3(COL6A2):c.1572+3G>A

rs372414400 
NM_001849.3(COL6A2):c.1599C>T (p.Arg533=)

rs373635709 
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys)

rs143338050 
NM_001849.3(COL6A2):c.160910C>T

rs17357592 
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=)

rs147194375 
NM_001849.3(COL6A2):c.1671+10A>G

rs915786 
NM_001849.3(COL6A2):c.167212G>A

rs113857622 
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=)

rs144334894 
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln)

rs147158850 
NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu)

rs142021066 
NM_001849.3(COL6A2):c.1734+14C>T

rs886057167 
NM_001849.3(COL6A2):c.1750C>T (p.Pro584Ser)

rs779979272 
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met)

rs142709940 
NM_001849.3(COL6A2):c.1770+1G>A

rs752803039 
NM_001849.3(COL6A2):c.1770+4G>A

rs9981981 
NM_001849.3(COL6A2):c.1779C>T (p.Asp593=)

rs139571947 
NM_001849.3(COL6A2):c.18178C>A

rs750444649 
NM_001849.3(COL6A2):c.189G>A (p.Thr63=)

rs143583433 
NM_001849.3(COL6A2):c.1911C>T (p.Phe637=)

rs746339542 
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr)

rs142002945 
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=)

rs150253422 
NM_001849.3(COL6A2):c.197010C>T

rs373369963 
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=)

rs146323303 
NM_001849.3(COL6A2):c.2039G>A (p.Arg680His)

rs1042917 
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys)

rs377376395 
NM_001849.3(COL6A2):c.2094G>A (p.Ala698=)

rs13052956 
NM_001849.3(COL6A2):c.2097C>T (p.Gly699=)

rs13046639 
NM_001849.3(COL6A2):c.2134G>T (p.Asp712Tyr)

rs375608173 
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=)

rs114554195 
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=)

rs61735829 
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=)

rs16978875 
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys)

rs150098077 
NM_001849.3(COL6A2):c.2182G>A (p.Val728Met)

rs200585528 
NM_001849.3(COL6A2):c.2184G>A (p.Val728=)

rs2839114 
NM_001849.3(COL6A2):c.219C>T (p.Phe73=)

rs374336669 
NM_001849.3(COL6A2):c.2205C>T (p.His735=)

rs755147431 
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=)

rs61735830 
NM_001849.3(COL6A2):c.2250C>T (p.Arg750=)

rs200096552 
NM_001849.3(COL6A2):c.2264C>T (p.Thr755Met)

rs369954815 
NM_001849.3(COL6A2):c.2331C>T (p.Cys777=)

rs181711180 
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn)

rs28562813 
NM_001849.3(COL6A2):c.2417G>A (p.Cys806Tyr)

rs749043206 
NM_001849.3(COL6A2):c.242311C>T

rs199952790 
NM_001849.3(COL6A2):c.24239C>G

rs368725753 
NM_001849.3(COL6A2):c.2436G>A (p.Val812=)

rs372745282 
NM_001849.3(COL6A2):c.2470G>A (p.Val824Met)

rs758758266 
NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met)

rs755782924 
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp)

rs373072443 
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile)

rs117668143 
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=)

rs113002150 
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=)

rs149697707 
NM_001849.3(COL6A2):c.2575G>A (p.Val859Met)

rs370446082 
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln)

rs373813975 
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met)

rs200488881 
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln)

rs61735831 
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn)

rs141021828 
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr)

rs141021828 
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=)

rs150219725 
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn)

rs387906610 
NM_001849.3(COL6A2):c.2634G>A (p.Ala878=)

rs143749884 
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=)

rs148249892 
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg)

rs141233891 
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=)

rs11554669 
NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys)

rs373611722 
NM_001849.3(COL6A2):c.2712G>A (p.Ala904=)

rs139116075 
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=)

rs747734639 
NM_001849.3(COL6A2):c.2751G>T (p.Val917=)

rs111341650 
NM_001849.3(COL6A2):c.2769C>T (p.His923=)

rs140419176 
NM_001849.3(COL6A2):c.2785G>A (p.Val929Met)

rs145527336 
NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys)

rs886057168 
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His)

rs374384263 
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=)

rs138074469 
NM_001849.3(COL6A2):c.2879C>T (p.Ser960Leu)

rs750097119 
NM_001849.3(COL6A2):c.2880G>A (p.Ser960=)

rs375430758 
NM_001849.3(COL6A2):c.2886C>T (p.His962=)

rs115970356 
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys)

rs201188174 
NM_001849.3(COL6A2):c.2917G>A (p.Val973Met)

rs145959270 
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn)

rs141579198 
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val)

rs190664941 
NM_001849.3(COL6A2):c.2978G>A (p.Arg993His)

rs544436881 
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr)

rs35139588 
NM_001849.3(COL6A2):c.2985C>T (p.Ala995=)

rs752243349 
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met)

rs142432514 
NM_001849.3(COL6A2):c.3003C>A (p.Asp1001Glu)

rs756253502 
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys)

rs1051148162 
NM_001849.3(COL6A2):c.3034G>A (p.Asp1012Asn)

rs372431744 
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys)

rs141703710 
NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu)

rs747184649 
NM_001849.3(COL6A2):c.411G>A (p.Ala137=)

rs528885146 
NM_001849.3(COL6A2):c.446G>A (p.Arg149His)

rs143891262 
NM_001849.3(COL6A2):c.459C>T (p.Thr153=)

rs764014106 
NM_001849.3(COL6A2):c.483C>T (p.Thr161=)

rs138312213 
NM_001849.3(COL6A2):c.492C>T (p.His164=)

rs140929054 
NM_001849.3(COL6A2):c.499G>A (p.Gly167Ser)

rs115957676 
NM_001849.3(COL6A2):c.510C>T (p.Cys170=)

rs142328765 
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg)

rs200710788 
NM_001849.3(COL6A2):c.528G>A (p.Gln176=)

rs377585812 
NM_001849.3(COL6A2):c.537G>A (p.Arg179=)

rs762450920 
NM_001849.3(COL6A2):c.542G>A (p.Arg181His)

rs371640468 
NM_001849.3(COL6A2):c.568G>A (p.Val190Met)

rs150877061 
NM_001849.3(COL6A2):c.620C>G (p.Thr207Arg)

rs760395633 
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys)

rs113017484 
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr)

rs530625182 
NM_001849.3(COL6A2):c.663C>T (p.Pro221=)

rs59531343 
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn)

rs35881321 
NM_001849.3(COL6A2):c.714+9C>T

rs78822624 
NM_001849.3(COL6A2):c.759A>G (p.Glu253=)

rs140404854 
NM_001849.3(COL6A2):c.791G>A (p.Arg264His)

rs148029276 
NM_001849.3(COL6A2):c.81G>A (p.Ser27=)

rs111639540 
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys)

rs61735835 
NM_001849.3(COL6A2):c.84G>A (p.Pro28=)

rs140890046 
NM_001849.3(COL6A2):c.90110C>T

rs754039292 
NM_001849.3(COL6A2):c.903C>T (p.Gly301=)

rs541325013 
NM_001849.3(COL6A2):c.933A>T (p.Glu311Asp)

rs370624136 
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn)

rs139399166 
NM_001849.4(COL6A2):c.*103G>A


NM_001849.4(COL6A2):c.*105C>G


NM_001849.4(COL6A2):c.*148G>A


NM_001849.4(COL6A2):c.*203G>A


NM_001849.4(COL6A2):c.*219C>T


NM_001849.4(COL6A2):c.*296A>G


NM_001849.4(COL6A2):c.76T>C


NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)


NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)


NM_001849.4(COL6A2):c.111714G>A


NM_001849.4(COL6A2):c.118010C>T

rs777782503 
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)


NM_001849.4(COL6A2):c.139611C>T


NM_001849.4(COL6A2):c.15227C>T


NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)


NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)


NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)


NM_001849.4(COL6A2):c.173514C>T


NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)


NM_001849.4(COL6A2):c.177113G>A


NM_001849.4(COL6A2):c.1793T>C (p.Val598Ala)


NM_001849.4(COL6A2):c.18173del

rs149954350 
NM_001849.4(COL6A2):c.18173dup

rs149954350 
NM_001849.4(COL6A2):c.18174_18173dup

rs149954350 
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)


NM_001849.4(COL6A2):c.1886C>A (p.Thr629Asn)


NM_001849.4(COL6A2):c.19703C>A

rs201879417 
NM_001849.4(COL6A2):c.19709G>A

rs747900252 
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)

rs75120695 
NM_001849.4(COL6A2):c.2424C>T (p.Asp808=)


NM_001849.4(COL6A2):c.24625dup

rs797044699 
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)

rs144830948 
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)

rs368160013 
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=)

rs374163190 
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)


NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)


NM_001849.4(COL6A2):c.2795C>T

rs117725825 
NM_001849.4(COL6A2):c.300C>G (p.His100Gln)


NM_001849.4(COL6A2):c.54C>G (p.Ile18Met)


NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)


NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)


NM_001849.4(COL6A2):c.714+13C>T


NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)

