NC_000021.9:g.(?_46111477)_(46121123_?)del


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

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

rs377195134 
NM_001849.3(COL6A2):c.100013_1030delCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT

rs1555873353 
NM_001849.3(COL6A2):c.10002A>C

rs1555873356 
NM_001849.3(COL6A2):c.10002A>G


NM_001849.3(COL6A2):c.10006C>T

rs761428568 
NM_001849.3(COL6A2):c.1037_1038delGAinsTT (p.Gly346Val)


NM_001849.3(COL6A2):c.1053+1G>C

rs886043187 
NM_001849.3(COL6A2):c.1053+2delT

rs886044140 
NM_001849.3(COL6A2):c.1053+3A>T

rs1555873388 
NM_001849.3(COL6A2):c.1053+6G>A

rs373181368 
NM_001849.3(COL6A2):c.10542A>G

rs886044023 
NM_001849.3(COL6A2):c.1055del (p.Gly352Alafs)

rs1555873507 
NM_001849.3(COL6A2):c.1059delC (p.Asp354Thrfs)

rs1555873508 
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg)

rs199929757 
NM_001849.3(COL6A2):c.1078G>T (p.Ala360Ser)

rs1555873523 
NM_001849.3(COL6A2):c.1095G>T (p.Glu365Asp)

rs374673302 
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter)

rs387906609 
NM_001849.3(COL6A2):c.1111G>A (p.Gly371Ser)


NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys)

rs144801620 
NM_001849.3(COL6A2):c.1130G>A (p.Arg377His)

rs148552966 
NM_001849.3(COL6A2):c.1138C>T (p.Arg380Cys)

rs142880107 
NM_001849.3(COL6A2):c.1140C>T (p.Arg380=)

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

rs770842374 
NM_001849.3(COL6A2):c.1166C>T

rs761805565 
NM_001849.3(COL6A2):c.1161C>T (p.Ile387=)

rs140027285 
NM_001849.3(COL6A2):c.1181G>C (p.Gly394Ala)


NM_001849.3(COL6A2):c.1199G>T (p.Gly400Val)

rs1555873827 
NM_001849.3(COL6A2):c.1215T>C (p.Pro405=)

rs558981930 
NM_001849.3(COL6A2):c.1225G>A (p.Gly409Arg)


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

rs61735827 
NM_001849.3(COL6A2):c.1277_1291delGGGGAGACCCCGGCA (p.Arg426_Gly430del)

rs1555873962 
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser)

rs765430501 
NM_001849.3(COL6A2):c.1294A>T (p.Lys432Ter)


NM_001849.3(COL6A2):c.129C>T (p.Cys43=)

rs755324001 
NM_001849.3(COL6A2):c.133310C>G

rs199513044 
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn)

rs535007570 
NM_001849.3(COL6A2):c.1336G>C (p.Asp446His)

rs535007570 
NM_001849.3(COL6A2):c.1348G>C (p.Glu450Gln)

rs757846451 
NM_001849.3(COL6A2):c.1356C>T (p.Pro452=)

rs886044428 
NM_001849.3(COL6A2):c.1357C>T (p.Arg453Cys)


NM_001849.3(COL6A2):c.1358G>A (p.Arg453His)

rs878854386 
NM_001849.3(COL6A2):c.138C>T (p.His46=)

rs201753549 
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter)


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

rs149077114 
NM_001849.3(COL6A2):c.1458+1G>A

rs886044526 
NM_001849.3(COL6A2):c.1458+9_1458+14delCAGTGC

rs762583937 
NM_001849.3(COL6A2):c.14592A>G

rs749974929 
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln)

rs61735828 
NM_001849.3(COL6A2):c.1466G>C (p.Arg489Pro)

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.1496G>A (p.Gly499Glu)

rs886042332 
NM_001849.3(COL6A2):c.1518C>T (p.Pro506=)

rs767192013 
NM_001849.3(COL6A2):c.15221G>A

rs398123646 
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser)

rs141166141 
NM_001849.3(COL6A2):c.1572+3G>A

rs372414400 
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=)

rs377476546 
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys)

rs143338050 
NM_001849.3(COL6A2):c.1614C>T (p.Gly538=)

rs147194375 
NM_001849.3(COL6A2):c.1641_1667delACCTGGGAGGAAAGGAGAGAAAGGAGA (p.Gly549_Pro557del)

rs1555874762 
NM_001849.3(COL6A2):c.1666G>A (p.Glu556Lys)

rs368878639 
NM_001849.3(COL6A2):c.1671+9_1671+10invCA


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

rs144334894 
NM_001849.3(COL6A2):c.167G>A (p.Ser56Asn)

rs1555871311 
NM_001849.3(COL6A2):c.1685C>T (p.Pro562Leu)

rs370775804 
NM_001849.3(COL6A2):c.169G>A (p.Val57Ile)

rs768434256 
NM_001849.3(COL6A2):c.1751delC (p.Pro584Leufs)

rs886044398 
NM_001849.3(COL6A2):c.1762G>A (p.Gly588Ser)

rs139488626 
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met)

rs142709940 
NM_001849.3(COL6A2):c.1770+1delG

rs886044215 
NM_001849.3(COL6A2):c.1770G>A (p.Thr590=)

rs150999832 
NM_001849.3(COL6A2):c.1792G>A (p.Val598Met)

rs149731632 
NM_001849.3(COL6A2):c.1806C>A (p.Cys602Ter)


NM_001849.3(COL6A2):c.1816+9C>T

rs1456625954 
NM_001849.3(COL6A2):c.18174_18173dupCC

rs149954350 
NM_001849.3(COL6A2):c.181T>C (p.Ser61Pro)

rs990733473 
NM_001849.3(COL6A2):c.1836C>T (p.Gly612=)

rs141257132 
NM_001849.3(COL6A2):c.1845C>T (p.Asp615=)

rs908989305 
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn)

rs267606750 
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys)

rs387906607 
NM_001849.3(COL6A2):c.1899G>A (p.Leu633=)

rs189341312 
NM_001849.3(COL6A2):c.1913T>G (p.Val638Gly)

rs141919484 
NM_001849.3(COL6A2):c.1921G>A (p.Val641Met)

rs1032420539 
NM_001849.3(COL6A2):c.1925T>C (p.Val642Ala)

rs760227367 
NM_001849.3(COL6A2):c.1937G>A (p.Gly646Asp)


NM_001849.3(COL6A2):c.1944C>T (p.Ile648=)

rs148178994 
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=)

rs150253422 
NM_001849.3(COL6A2):c.1969+10G>C

rs201259184 
NM_001849.3(COL6A2):c.197010C>T

rs373369963 
NM_001849.3(COL6A2):c.19703C>A

rs201879417 
NM_001849.3(COL6A2):c.19709G>A

rs747900252 
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter)

rs138948335 
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys)

rs377376395 
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp)

rs863224861 
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=)

rs114554195 
NM_001849.3(COL6A2):c.2153G>A (p.Ser718Asn)


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.2171G>T (p.Arg724Leu)

rs145450812 
NM_001849.3(COL6A2):c.2173G>T (p.Val725Leu)

rs1555875749 
NM_001849.3(COL6A2):c.2181G>A (p.Ala727=)


NM_001849.3(COL6A2):c.2189T>G (p.Ile730Ser)

rs1555875759 
NM_001849.3(COL6A2):c.2197G>A (p.Gly733Arg)

rs886042922 
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=)

rs61735830 
NM_001849.3(COL6A2):c.2235G>T (p.Arg745=)

rs773668391 
NM_001849.3(COL6A2):c.2237C>T (p.Ala746Val)

rs761863452 
NM_001849.3(COL6A2):c.2238G>A (p.Ala746=)

rs535581551 
NM_001849.3(COL6A2):c.2243G>A (p.Cys748Tyr)

rs200072495 
NM_001849.3(COL6A2):c.2244C>T (p.Cys748=)

rs201426778 
NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn)

rs375884809 
NM_001849.3(COL6A2):c.2278G>A (p.Gly760Arg)


NM_001849.3(COL6A2):c.2284_2285delAT (p.Met762Valfs)

rs778129335 
NM_001849.3(COL6A2):c.229T>C (p.Phe77Leu)

rs199736749 
NM_001849.3(COL6A2):c.22G>A (p.Val8Met)

rs192476178 
NM_001849.3(COL6A2):c.2301C>T (p.His767=)

rs138371054 
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)

rs886043164 
NM_001849.3(COL6A2):c.2319C>T (p.Tyr773=)

rs377458657 
NM_001849.3(COL6A2):c.2326G>A (p.Ala776Thr)

rs759293889 
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg)

rs267606747 
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn)

rs28562813 
NM_001849.3(COL6A2):c.2334C>A (p.Asp778Glu)

rs764165623 
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His)

rs75120695 
NM_001849.3(COL6A2):c.2371G>A (p.Asp791Asn)

rs1273249543 
NM_001849.3(COL6A2):c.2375T>C (p.Leu792Pro)


NM_001849.3(COL6A2):c.2386_2388delAAG (p.Lys796del)

rs747378168 
NM_001849.3(COL6A2):c.2407G>A (p.Asp803Asn)

rs761913437 
NM_001849.3(COL6A2):c.2410G>A (p.Val804Ile)

rs199896699 
NM_001849.3(COL6A2):c.2422+6C>T

rs371950486 
NM_001849.3(COL6A2):c.2435T>C (p.Val812Ala)

rs886044025 
NM_001849.3(COL6A2):c.2454C>T (p.Cys818=)

rs199499499 
NM_001849.3(COL6A2):c.24625C>T

rs760890154 
NM_001849.3(COL6A2):c.24625dupC

rs797044699 
NM_001849.3(COL6A2):c.2470G>A (p.Val824Met)

rs758758266 
NM_001849.3(COL6A2):c.2471T>C (p.Val824Ala)

rs1259128571 
NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met)

rs755782924 
NM_001849.3(COL6A2):c.2484G>A (p.Thr828=)

rs147199350 
NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile)

rs117668143 
NM_001849.3(COL6A2):c.2508C>A (p.Phe836Leu)

rs727502835 
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=)

rs113002150 
NM_001849.3(COL6A2):c.2524G>A (p.Glu842Lys)

rs571051982 
NM_001849.3(COL6A2):c.2528G>A (p.Arg843Gln)

rs201736323 
NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln)

rs144830948 
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=)

rs774805224 
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter)

rs1555877252 
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=)

rs146420786 
NM_001849.3(COL6A2):c.2584C>T (p.Arg862Trp)

rs777822883 
NM_001849.3(COL6A2):c.2599C>A (p.Arg867=)

rs144484744 
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp)

rs144484744 
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.2610C>T (p.Asp870=)

rs116817879 
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn)

rs387906610 
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr)

rs199606147 
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His)

rs1012567148 
NM_001849.3(COL6A2):c.2628C>T (p.Arg876=)


NM_001849.3(COL6A2):c.2629G>A (p.Val877Met)

rs369396198 
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val)

rs774521989 
NM_001849.3(COL6A2):c.2634G>A (p.Ala878=)

rs143749884 
NM_001849.3(COL6A2):c.2656G>A (p.Gly886Ser)

rs571488000 
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=)

rs148249892 
NM_001849.3(COL6A2):c.267G>C (p.Gln89His)


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.2711C>T (p.Ala904Val)

rs376665722 
NM_001849.3(COL6A2):c.2713C>T (p.Leu905=)

rs753611948 
NM_001849.3(COL6A2):c.2738_2740delCCT (p.Ser913del)

rs777696289 
NM_001849.3(COL6A2):c.2749G>A (p.Val917Met)

rs145381639 
NM_001849.3(COL6A2):c.2751G>T (p.Val917=)

rs111341650 
NM_001849.3(COL6A2):c.2766G>A (p.Val922=)

rs557446829 
NM_001849.3(COL6A2):c.2769C>T (p.His923=)

rs140419176 
NM_001849.3(COL6A2):c.2770G>A (p.Ala924Thr)

rs771749652 
NM_001849.3(COL6A2):c.2773A>C (p.Ile925Leu)

rs772894756 
NM_001849.3(COL6A2):c.2784C>T (p.Ile928=)

rs199501232 
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.2795C>T (p.Pro932Leu)

rs117725825 
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=)

rs373274913 
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His)

rs374384263 
NM_001849.3(COL6A2):c.2802C>T (p.Gly934=)

rs151295731 
NM_001849.3(COL6A2):c.2804G>A (p.Gly935Glu)


NM_001849.3(COL6A2):c.2809C>T (p.Arg937Trp)

rs755352246 
NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln)

rs777354703 
NM_001849.3(COL6A2):c.2843C>G (p.Thr948Arg)

rs367980010 
NM_001849.3(COL6A2):c.2850C>T (p.Gly950=)

rs751192681 
NM_001849.3(COL6A2):c.2856G>A (p.Thr952=)

rs138074469 
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=)

rs548194162 
NM_001849.3(COL6A2):c.2877G>T (p.Glu959Asp)


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.288C>T (p.Tyr96=)

rs61735833 
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys)

rs201188174 
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro)

rs201854898 
NM_001849.3(COL6A2):c.289G>A (p.Gly97Ser)

rs750027302 
NM_001849.3(COL6A2):c.2902_2934dup (p.Ser978_Asp979insAsnValValProThrValLeuAlaLeuGlySer)


NM_001849.3(COL6A2):c.2905G>A (p.Val969Met)

rs763443381 
NM_001849.3(COL6A2):c.2917G>A (p.Val973Met)

rs145959270 
NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser)

rs200200671 
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn)

rs141579198 
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=)

rs150716220 
NM_001849.3(COL6A2):c.2944A>G (p.Met982Val)

rs190664941 
NM_001849.3(COL6A2):c.2960C>T (p.Thr987Met)

rs199955442 
NM_001849.3(COL6A2):c.2982C>T (p.Ala994=)

rs145460820 
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr)

rs35139588 
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met)

rs142432514 
NM_001849.3(COL6A2):c.2988dup (p.Phe997Valfs)

rs1555877364 
NM_001849.3(COL6A2):c.2994C>T (p.His998=)

rs376362856 
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=)

rs751494076 
NM_001849.3(COL6A2):c.3004T>C (p.Tyr1002His)

rs527236952 
NM_001849.3(COL6A2):c.3026G>T (p.Gly1009Val)


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

rs1051148162 
NM_001849.3(COL6A2):c.3047G>A (p.Arg1016His)

rs376368468 
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys)

rs141703710 
NM_001849.3(COL6A2):c.333G>A (p.Pro111=)

rs370531466 
NM_001849.3(COL6A2):c.340G>A (p.Asp114Asn)

rs969934621 
NM_001849.3(COL6A2):c.344G>A (p.Arg115Gln)

rs145352569 
NM_001849.3(COL6A2):c.422T>C (p.Met141Thr)


NM_001849.3(COL6A2):c.426G>A (p.Thr142=)

rs149480738 
NM_001849.3(COL6A2):c.483C>T (p.Thr161=)

rs138312213 
NM_001849.3(COL6A2):c.487G>A (p.Gly163Ser)

rs769456044 
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.544G>A (p.Glu182Lys)


NM_001849.3(COL6A2):c.557G>A (p.Arg186Gln)


NM_001849.3(COL6A2):c.581A>G (p.Gln194Arg)

rs113509166 
NM_001849.3(COL6A2):c.623C>T (p.Pro208Leu)


NM_001849.3(COL6A2):c.624G>A (p.Pro208=)

rs146333253 
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys)

rs113017484 
NM_001849.3(COL6A2):c.638G>A (p.Arg213His)

rs368064647 
NM_001849.3(COL6A2):c.641_645delACGAC (p.Asn214Ilefs)

rs1375040481 
NM_001849.3(COL6A2):c.643G>A (p.Asp215Asn)

rs563449281 
NM_001849.3(COL6A2):c.672C>T (p.Thr224=)

rs759388890 
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn)

rs35881321 
NM_001849.3(COL6A2):c.679G>C (p.Asp227His)

rs35881321 
NM_001849.3(COL6A2):c.697C>T (p.Arg233Cys)

rs1379543505 
NM_001849.3(COL6A2):c.698G>A (p.Arg233His)

rs146742517 
NM_001849.3(COL6A2):c.714+10G>A

rs777394169 
NM_001849.3(COL6A2):c.714+9C>T

rs78822624 
NM_001849.3(COL6A2):c.735+7G>A

rs575365107 
NM_001849.3(COL6A2):c.7367_739delGTTTCAGTGCT

rs1555872143 
NM_001849.3(COL6A2):c.759A>G (p.Glu253=)

rs140404854 
NM_001849.3(COL6A2):c.785G>A (p.Gly262Asp)

rs886042943 
NM_001849.3(COL6A2):c.790C>T (p.Arg264Cys)

rs760263812 
NM_001849.3(COL6A2):c.791G>A (p.Arg264His)

rs148029276 
NM_001849.3(COL6A2):c.801+1G>A

rs794727715 
NM_001849.3(COL6A2):c.8022A>G

rs886044399 
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp)

rs397515333 
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser)

rs121912940 
NM_001849.3(COL6A2):c.812G>A (p.Gly271Asp)

rs794727788 
NM_001849.3(COL6A2):c.812G>T (p.Gly271Val)

rs794727788 
NM_001849.3(COL6A2):c.81G>A (p.Ser27=)

rs111639540 
NM_001849.3(COL6A2):c.827C>T (p.Pro276Leu)

rs757488307 
NM_001849.3(COL6A2):c.828G>A (p.Pro276=)

rs140790797 
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys)

rs61735835 
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg)

rs886043323 
NM_001849.3(COL6A2):c.839G>A (p.Gly280Asp)


NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu)

rs886044088 
NM_001849.3(COL6A2):c.8562A>C

rs886044466 
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu)

rs727502827 
NM_001849.3(COL6A2):c.863C>T (p.Pro288Leu)

rs745566911 
NM_001849.3(COL6A2):c.865G>T (p.Gly289Cys)

rs886043270 
NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg)

rs727502828 
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val)

rs794727855 
NM_001849.3(COL6A2):c.881T>C (p.Ile294Thr)


NM_001849.3(COL6A2):c.900+1G>C

rs886044261 
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val)

rs727502832 
NM_001849.3(COL6A2):c.942C>T (p.Ala314=)

rs531713008 
NM_001849.3(COL6A2):c.954G>T (p.Lys318Asn)

rs878854362 
NM_001849.3(COL6A2):c.9551G>A

rs886044265 
NM_001849.3(COL6A2):c.9553_9551delinsAA


NM_001849.3(COL6A2):c.978G>A (p.Lys326=)

rs1480541163 
NM_001849.3(COL6A2):c.981C>T (p.Asn327=)

rs768836349 
NM_001849.3(COL6A2):c.987C>T (p.Thr329=)

rs748215430 
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn)

rs139399166 
NM_001849.3(COL6A2):c.999+7G>A

rs199783099 
NM_058175.2(COL6A2):c.148G>A (p.Val50Met)

rs727502826 