ClinVar Miner

List of variants in gene COL6A2 studied for collagen 6-related myopathy

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1739
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_001849.4(COL6A2):c.2462-35C>T rs7279622 0.54180
NM_001849.4(COL6A2):c.1116+32G>A rs7279347 0.49217
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.928-19C>T rs762438 0.45414
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.*56T>G rs148337125 0.01837
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001849.4(COL6A2):c.1672-12G>A rs113857622 0.00860
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NC_000021.9:g.46136261G>A rs77991819 0.00534
NM_001849.4(COL6A2):c.2886C>T (p.His962=) rs115970356 0.00365
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) rs140027285 0.00229
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00199
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) rs138312213 0.00163
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) rs112197239 0.00156
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00112
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_001849.4(COL6A2):c.115+6del rs578127995 0.00102
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) rs117668143 0.00101
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_001849.4(COL6A2):c.2423-11C>T rs199952790 0.00096
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=) rs147199350 0.00096
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) rs61735833 0.00091
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_001849.3(COL6A2):c.*307G>A rs532914531 0.00083
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser) rs35887009 0.00080
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00077
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00068
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu) rs151244310 0.00063
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_001849.4(COL6A2):c.2462-12G>A rs369839157 0.00053
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) rs148029276 0.00052
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met) rs370446082 0.00051
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=) rs148249892 0.00051
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=) rs148178994 0.00048
NM_001849.4(COL6A2):c.1969+17C>T rs539735984 0.00048
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=) rs145460820 0.00048
NM_001849.4(COL6A2):c.928-9C>T rs200571090 0.00048
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=) rs111938213 0.00043
NM_001849.4(COL6A2):c.*106G>A rs185393384 0.00036
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092 0.00035
NM_001849.3(COL6A2):c.*303G>A rs143059384 0.00034
NM_001849.4(COL6A2):c.1970-10C>T rs373369963 0.00034
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=) rs143168888 0.00034
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00033
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_001849.4(COL6A2):c.1117-7C>A rs202094835 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_001849.4(COL6A2):c.1522-9C>T rs371576207 0.00029
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230 0.00029
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe) rs375966817 0.00027
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_001849.4(COL6A2):c.2423-9C>G rs368725753 0.00026
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=) rs377476546 0.00024
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser) rs139488626 0.00022
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230 0.00021
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=) rs528635866 0.00021
NM_001849.4(COL6A2):c.2422+16C>T rs372990656 0.00021
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln) rs201736323 0.00021
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met) rs398123650 0.00021
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174 0.00021
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His) rs148552966 0.00020
NM_001849.4(COL6A2):c.1522-20G>A rs368072665 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) rs370624136 0.00020
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile) rs199896699 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00018
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=) rs144334894 0.00018
NM_001849.4(COL6A2):c.2907G>A (p.Val969=) rs138004735 0.00018
NM_001849.4(COL6A2):c.828G>A (p.Pro276=) rs140790797 0.00018
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355 0.00017
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=) rs148404291 0.00017
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser) rs571488000 0.00016
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) rs145527336 0.00016
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met) rs142432514 0.00016
NM_001849.4(COL6A2):c.786C>G (p.Gly262=) rs145500808 0.00016
NM_001849.4(COL6A2):c.942C>T (p.Ala314=) rs531713008 0.00016
NM_001849.4(COL6A2):c.1816+16C>T rs545974833 0.00015
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=) rs142065958 0.00015
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) rs751192681 0.00015
NM_001849.4(COL6A2):c.*139G>A rs774514501 0.00014
NM_001849.4(COL6A2):c.186C>A (p.Pro62=) rs762050166 0.00014
NM_001849.4(COL6A2):c.1970-13G>A rs369943351 0.00014
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val) rs376665722 0.00014
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_001849.4(COL6A2):c.624G>A (p.Pro208=) rs146333253 0.00014
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=) rs141257132 0.00013
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=) rs201426778 0.00013
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met) rs758758266 0.00013
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) rs146420786 0.00013
NM_001849.4(COL6A2):c.542G>A (p.Arg181His) rs371640468 0.00013
NM_001849.4(COL6A2):c.*148G>A rs780376533 0.00012
NM_001849.4(COL6A2):c.*203G>A rs561873926 0.00012
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn) rs138276378 0.00012
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys) rs771886065 0.00012
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp) rs777822883 0.00012
NM_001849.4(COL6A2):c.2748C>T (p.His916=) rs372206114 0.00012
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198 0.00012
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met) rs199955442 0.00012
NM_001849.4(COL6A2):c.*103G>A rs764185977 0.00011
NM_001849.4(COL6A2):c.*45G>A rs552240091 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys) rs369344885 0.00011
NM_001849.4(COL6A2):c.2628C>T (p.Arg876=) rs372413216 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 0.00011
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=) rs151295731 0.00011
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln) rs145352569 0.00011
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.1332+3G>A rs201007156 0.00010
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=) rs746339542 0.00010
NM_001849.4(COL6A2):c.2817C>T (p.His939=) rs368164391 0.00010
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208 0.00010
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502 0.00010
NM_001849.4(COL6A2):c.446G>A (p.Arg149His) rs143891262 0.00010
NM_001849.4(COL6A2):c.116-6C>T rs761805565 0.00009
NM_001849.4(COL6A2):c.120G>A (p.Lys40=) rs200025682 0.00009
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) rs878854386 0.00009
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00009
NM_001849.4(COL6A2):c.1458+9_1458+14del rs762583937 0.00009
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile) rs557865000 0.00009
NM_001849.4(COL6A2):c.22G>A (p.Val8Met) rs192476178 0.00009
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013 0.00009
NM_001849.4(COL6A2):c.2671G>A (p.Ala891Thr) rs754110764 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=) rs199501232 0.00009
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met) rs140020002 0.00009
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=) rs201635208 0.00009
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys) rs374504636 0.00009
NM_001849.4(COL6A2):c.855+19C>T rs373366455 0.00009
NM_001849.4(COL6A2):c.855+8T>C rs370008311 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_001849.4(COL6A2):c.*202C>T rs886057171 0.00008
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val) rs373846012 0.00008
NM_001849.4(COL6A2):c.1459-13C>T rs370542209 0.00008
NM_001849.4(COL6A2):c.1671+12C>T rs369570961 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=) rs530866573 0.00008
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu) rs779242861 0.00008
NM_001849.4(COL6A2):c.672C>T (p.Thr224=) rs759388890 0.00008
NM_001849.4(COL6A2):c.735+9C>T rs377121540 0.00008
NM_001849.4(COL6A2):c.945C>T (p.Asp315=) rs549800720 0.00008
NM_001849.4(COL6A2):c.1333-15C>T rs759266010 0.00007
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=) rs139571947 0.00007
NM_001849.4(COL6A2):c.1969+10G>C rs201259184 0.00007
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=) rs199499499 0.00007
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=) rs754900547 0.00007
NM_001849.4(COL6A2):c.2462-20G>A rs559932204 0.00007
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser) rs373862445 0.00007
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00007
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=) rs375430758 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn) rs770387211 0.00007
NM_001849.4(COL6A2):c.981C>T (p.Asn327=) rs768836349 0.00007
NM_001849.4(COL6A2):c.*105C>T rs538537601 0.00006
NM_001849.4(COL6A2):c.1053+6G>A rs373181368 0.00006
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn) rs188184732 0.00006
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=) rs746727003 0.00006
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln) rs368588676 0.00006
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln) rs757846451 0.00006
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050 0.00006
NM_001849.4(COL6A2):c.1671+17C>T rs372188653 0.00006
NM_001849.4(COL6A2):c.1671+18G>A rs202115968 0.00006
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser) rs140097446 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.1926C>G (p.Val642=) rs770537140 0.00006
NM_001849.4(COL6A2):c.196C>T (p.Leu66=) rs201055113 0.00006
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=) rs146323303 0.00006
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) rs373514837 0.00006
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395 0.00006
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=) rs535581551 0.00006
NM_001849.4(COL6A2):c.2245G>A (p.Asp749Asn) rs372913372 0.00006
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=) rs373731822 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 0.00006
NM_001849.4(COL6A2):c.2436G>A (p.Val812=) rs372745282 0.00006
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=) rs771772739 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=) rs144475977 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys) rs886043283 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=) rs139116075 0.00006
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=) rs765055618 0.00006
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.2874C>T (p.His958=) rs765550338 0.00006
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=) rs369756029 0.00006
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser) rs750027302 0.00006
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met) rs145959270 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_001849.4(COL6A2):c.2994C>T (p.His998=) rs376362856 0.00006
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr) rs374011338 0.00006
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00006
NM_001849.4(COL6A2):c.464A>G (p.His155Arg) rs148187245 0.00006
NM_001849.4(COL6A2):c.525G>A (p.Leu175=) rs754034094 0.00006
NM_001849.4(COL6A2):c.698G>A (p.Arg233His) rs146742517 0.00006
NM_001849.4(COL6A2):c.856-14G>A rs759917394 0.00006
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=) rs751688085 0.00005
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.139G>A (p.Val47Met) rs370171967 0.00005
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001849.4(COL6A2):c.1608+15T>A rs759865245 0.00005
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg) rs754196388 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 0.00005
NM_001849.4(COL6A2):c.1771-13G>A rs376708282 0.00005
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile) rs541785316 0.00005
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=) rs760704425 0.00005
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu) rs145450812 0.00005
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=) rs188508745 0.00005
NM_001849.4(COL6A2):c.2205C>T (p.His735=) rs755147431 0.00005
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=) rs201571249 0.00005
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=) rs200386811 0.00005
NM_001849.4(COL6A2):c.2462-13C>T rs533454494 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=) rs748286207 0.00005
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=) rs758646770 0.00005
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652 0.00005
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=) rs369129061 0.00005
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=) rs143569686 0.00005
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744 0.00005
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys) rs369025432 0.00005
NM_001849.4(COL6A2):c.536G>A (p.Arg179Gln) rs376139670 0.00005
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys) rs374196682 0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His) rs368064647 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001849.4(COL6A2):c.736-7G>A rs375288629 0.00005
NM_001849.4(COL6A2):c.999+15G>A rs372055794 0.00005
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His) rs760872485 0.00004
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=) rs766157503 0.00004
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys) rs142880107 0.00004
NM_001849.4(COL6A2):c.1194C>T (p.Asn398=) rs1158137469 0.00004
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg) rs768681228 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys) rs776748046 0.00004
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=) rs377210303 0.00004
NM_001849.4(COL6A2):c.1771-14C>T rs200727166 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=) rs189341312 0.00004
NM_001849.4(COL6A2):c.1970-15G>A rs372285273 0.00004
NM_001849.4(COL6A2):c.1970-20C>T rs568102534 0.00004
NM_001849.4(COL6A2):c.1970-8G>C rs771873003 0.00004
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=) rs776187095 0.00004
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=) rs370558215 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His) rs145140058 0.00004
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00004
NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp) rs140643748 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn) rs372936386 0.00004
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn) rs761913437 0.00004
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940 0.00004
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=) rs748047522 0.00004
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met) rs376841327 0.00004
NM_001849.4(COL6A2):c.249C>T (p.Asn83=) rs151032529 0.00004
NM_001849.4(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982 0.00004
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys) rs772005975 0.00004
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp) rs759689002 0.00004
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met) rs200488881 0.00004
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=) rs376791811 0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=) rs374163190 0.00004
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His) rs554257211 0.00004
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=) rs757818559 0.00004
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn) rs773407652 0.00004
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=) rs139814466 0.00004
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=) rs764590595 0.00004
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=) rs746012569 0.00004
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952 0.00004
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys) rs373392391 0.00004
NM_001849.4(COL6A2):c.411G>A (p.Ala137=) rs528885146 0.00004
NM_001849.4(COL6A2):c.472G>A (p.Val158Met) rs201792591 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp) rs201470058 0.00004
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly) rs760509198 0.00004
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp) rs754048358 0.00004
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val) rs747347320 0.00004
NM_001849.4(COL6A2):c.642C>T (p.Asn214=) rs781584161 0.00004
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr) rs530625182 0.00004
NM_001849.4(COL6A2):c.714+10G>A rs777394169 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu) rs150057026 0.00004
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu) rs778546141 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser) rs745678446 0.00004
NM_001849.4(COL6A2):c.*121C>A rs886057170 0.00003
NM_001849.4(COL6A2):c.*31C>T rs886057169 0.00003
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln) rs747093518 0.00003
NM_001849.4(COL6A2):c.115+10G>T rs200797233 0.00003
NM_001849.4(COL6A2):c.1180-12C>T rs1189408610 0.00003
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg) rs762490709 0.00003
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=) rs755258603 0.00003
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=) rs750842859 0.00003
NM_001849.4(COL6A2):c.1395+9G>C rs747883263 0.00003
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=) rs145012001 0.00003
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_001849.4(COL6A2):c.1522-7C>T rs200501842 0.00003
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His) rs781676156 0.00003
NM_001849.4(COL6A2):c.162G>A (p.Ser54=) rs780123839 0.00003
NM_001849.4(COL6A2):c.1671+13G>A rs756078022 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=) rs150999832 0.00003
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met) rs149731632 0.00003
NM_001849.4(COL6A2):c.1809G>A (p.Gly603=) rs767902639 0.00003
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His) rs758550765 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 0.00003
NM_001849.4(COL6A2):c.1872G>A (p.Glu624=) rs147566231 0.00003
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=) rs150253422 0.00003
NM_001849.4(COL6A2):c.1969+4A>C rs775997945 0.00003
NM_001849.4(COL6A2):c.1969+6C>T rs374669895 0.00003
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala) rs774611719 0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001849.4(COL6A2):c.2235G>T (p.Arg745=) rs773668391 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=) rs377458657 0.00003
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.2461+10G>A rs777710817 0.00003
NM_001849.4(COL6A2):c.2461+16C>T rs769731536 0.00003
NM_001849.4(COL6A2):c.2462-17C>T rs1368389922 0.00003
NM_001849.4(COL6A2):c.2462-5C>T rs760890154 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198 0.00003
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr) rs374166613 0.00003
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=) rs1474756520 0.00003
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=) rs139798208 0.00003
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr) rs372523558 0.00003
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756 0.00003
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871 0.00003
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) rs367980010 0.00003
NM_001849.4(COL6A2):c.284G>A (p.Arg95His) rs886042690 0.00003
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=) rs752243349 0.00003
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu) rs747184649 0.00003
NM_001849.4(COL6A2):c.333G>A (p.Pro111=) rs370531466 0.00003
NM_001849.4(COL6A2):c.471C>T (p.Ala157=) rs372298335 0.00003
NM_001849.4(COL6A2):c.522G>A (p.Lys174=) rs554016354 0.00003
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) rs113509166 0.00003
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg) rs886044068 0.00003
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys) rs770150581 0.00003
NM_001849.4(COL6A2):c.720C>T (p.His240=) rs763803023 0.00003
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=) rs200824569 0.00003
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) rs745566911 0.00003
NM_001849.4(COL6A2):c.879C>T (p.Pro293=) rs138389174 0.00003
NM_001849.4(COL6A2):c.903C>T (p.Gly301=) rs541325013 0.00003
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile) rs755822013 0.00003
NM_001849.4(COL6A2):c.999+14C>T rs761013382 0.00003
NM_001849.4(COL6A2):c.1000-6C>T rs761428568 0.00002
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=) rs760596115 0.00002
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637 0.00002
NM_001849.4(COL6A2):c.1053+10G>A rs377311004 0.00002
NM_001849.4(COL6A2):c.1117-14G>A rs768473305 0.00002
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946 0.00002
NM_001849.4(COL6A2):c.115+20G>A rs767925731 0.00002
NM_001849.4(COL6A2):c.115+2T>C rs770842374 0.00002
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=) rs752255976 0.00002
NM_001849.4(COL6A2):c.123C>T (p.Thr41=) rs766840536 0.00002
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys) rs200167715 0.00002
NM_001849.4(COL6A2):c.1270-16C>T rs548690364 0.00002
NM_001849.4(COL6A2):c.1270-3C>T rs1488223613 0.00002
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His) rs773161640 0.00002
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332 0.00002
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=) rs767192013 0.00002
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu) rs1252515693 0.00002
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639 0.00002
NM_001849.4(COL6A2):c.168C>T (p.Ser56=) rs749106470 0.00002
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) rs771658013 0.00002
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=) rs748153892 0.00002
NM_001849.4(COL6A2):c.1797G>C (p.Arg599Ser) rs370858447 0.00002
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg) rs757603350 0.00002
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro) rs990733473 0.00002
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys) rs748283415 0.00002
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=) rs143819480 0.00002
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp) rs752366811 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 0.00002
NM_001849.4(COL6A2):c.2055G>A (p.Ser685=) rs752648726 0.00002
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=) rs374795477 0.00002
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys) rs200709432 0.00002
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=) rs200096552 0.00002
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=) rs747494120 0.00002
NM_001849.4(COL6A2):c.2264C>T (p.Thr755Met) rs369954815 0.00002
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=) rs771683876 0.00002
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) rs199736749 0.00002
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr) rs759293889 0.00002
NM_001849.4(COL6A2):c.2349G>A (p.Val783=) rs886044418 0.00002
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=) rs745800327 0.00002
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu) rs768417049 0.00002
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr) rs768339045 0.00002
NM_001849.4(COL6A2):c.273G>A (p.Ala91=) rs753168760 0.00002
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met) rs145381639 0.00002
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly) rs11554668 0.00002
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168 0.00002
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His) rs762812372 0.00002
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys) rs372022187 0.00002
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp) rs373184224 0.00002
NM_001849.4(COL6A2):c.2892G>A (p.Met964Ile) rs747174626 0.00002
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met) rs752700701 0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197 0.00002
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His) rs376368468 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile) rs751410120 0.00002
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) rs769456044 0.00002
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln) rs376291264 0.00002
NM_001849.4(COL6A2):c.714+13C>T rs989554566 0.00002
NM_001849.4(COL6A2):c.735+10G>A rs748325597 0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu) rs763922121 0.00002
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) rs757488307 0.00002
NM_001849.4(COL6A2):c.900+13G>A rs767295307 0.00002
NM_001849.4(COL6A2):c.928-10T>A rs747608945 0.00002
NM_001849.4(COL6A2):c.93C>T (p.Thr31=) rs953778915 0.00002
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys) rs547648292 0.00002
NM_001849.4(COL6A2):c.954+5G>C rs750755566 0.00002
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys) rs775751831 0.00001
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser) rs2078489585 0.00001
NM_001849.4(COL6A2):c.1053+9C>T rs781673478 0.00001
NM_001849.4(COL6A2):c.1054-10C>T rs1456017785 0.00001
NM_001849.4(COL6A2):c.1054-7C>T rs762738666 0.00001
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu) rs767744331 0.00001
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=) rs1381119779 0.00001
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser) rs1218992420 0.00001
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=) rs762160379 0.00001
NM_001849.4(COL6A2):c.1117-3C>T rs772428654 0.00001
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=) rs148423929 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1180-10C>T rs777782503 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=) rs778836612 0.00001
NM_001849.4(COL6A2):c.1269+20_1269+21dup rs762054025 0.00001
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983 0.00001
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile) rs1381049424 0.00001
NM_001849.4(COL6A2):c.12C>T (p.Gly4=) rs568730672 0.00001
NM_001849.4(COL6A2):c.1332+10C>T rs886042745 0.00001
NM_001849.4(COL6A2):c.1332+11G>A rs915604664 0.00001
NM_001849.4(COL6A2):c.1332+11G>C rs915604664 0.00001
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg) rs886044030 0.00001
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=) rs886044428 0.00001
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys) rs781742477 0.00001
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr) rs144735844 0.00001
NM_001849.4(COL6A2):c.1395+20C>T rs374032380 0.00001
NM_001849.4(COL6A2):c.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=) rs374669775 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln) rs746541506 0.00001
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453 0.00001
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His) rs200482836 0.00001
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=) rs774677437 0.00001
NM_001849.4(COL6A2):c.1458+3C>T rs794727186 0.00001
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe) rs755539822 0.00001
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=) rs772436808 0.00001
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser) rs553174831 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+10C>G rs753385303 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1522-12G>A rs770511180 0.00001
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=) rs199842179 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 0.00001
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=) rs779424467 0.00001
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258 0.00001
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=) rs552356380 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.1596A>G (p.Pro532=) rs1337532842 0.00001
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500 0.00001
NM_001849.4(COL6A2):c.1608+17G>A rs748591526 0.00001
NM_001849.4(COL6A2):c.1609-17T>C rs1188602280 0.00001
NM_001849.4(COL6A2):c.1609-20A>G rs1291554758 0.00001
NM_001849.4(COL6A2):c.1609-7G>A rs555312732 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=) rs774587547 0.00001
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val) rs376303610 0.00001
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=) rs564536740 0.00001
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=) rs189470660 0.00001
NM_001849.4(COL6A2):c.1734+14C>T rs886057167 0.00001
NM_001849.4(COL6A2):c.1735-14C>T rs762776002 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=) rs1158803111 0.00001
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg) rs917875281 0.00001
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=) rs1422175519 0.00001
NM_001849.4(COL6A2):c.1770+11C>T rs755518889 0.00001
NM_001849.4(COL6A2):c.1770+18C>T rs1040827784 0.00001
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala) rs1487977724 0.00001
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=) rs751987553 0.00001
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr) rs1420375071 0.00001
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=) rs778401356 0.00001
NM_001849.4(COL6A2):c.1816+9C>T rs1456625954 0.00001
NM_001849.4(COL6A2):c.1817-7_1817-6insA rs759572010 0.00001
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met) rs746193653 0.00001
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=) rs770024474 0.00001
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=) rs367857478 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr) rs766374821 0.00001
NM_001849.4(COL6A2):c.1887C>T (p.Thr629=) rs758542107 0.00001
NM_001849.4(COL6A2):c.1895C>T (p.Thr632Ile) rs1042338524 0.00001
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile) rs554113319 0.00001
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met) rs1032420539 0.00001
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala) rs760227367 0.00001
NM_001849.4(COL6A2):c.1970-16C>T rs370331777 0.00001
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met) rs758788067 0.00001
NM_001849.4(COL6A2):c.1989G>A (p.Val663=) rs944558259 0.00001
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335 0.00001
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=) rs771823896 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys) rs763502626 0.00001
NM_001849.4(COL6A2):c.207C>T (p.His69=) rs754275746 0.00001
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=) rs763384399 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=) rs759188267 0.00001
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=) rs764727296 0.00001
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=) rs531816975 0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys) rs139627965 0.00001
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu) rs746159648 0.00001
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=) rs1345626063 0.00001
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=) rs930056910 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His) rs749451502 0.00001
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn) rs1348937334 0.00001
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val) rs761863452 0.00001
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=) rs398123649 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=) rs367994212 0.00001
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser) rs773338647 0.00001
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=) rs1487961328 0.00001
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro) rs982360912 0.00001
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=) rs756575729 0.00001
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=) rs754203636 0.00001
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val) rs202155540 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2412C>T (p.Val804=) rs909940106 0.00001
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=) rs774494973 0.00001
NM_001849.4(COL6A2):c.2423-18C>T rs866625140 0.00001
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936 0.00001
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=) rs776788517 0.00001
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met) rs746393019 0.00001
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala) rs886044025 0.00001
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu) rs775748752 0.00001
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=) rs201518654 0.00001
NM_001849.4(COL6A2):c.2461+11G>A rs200484565 0.00001
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro) rs1243558040 0.00001
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr) rs11554667 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2496G>A (p.Val832=) rs567775494 0.00001
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835 0.00001
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys) rs932129947 0.00001
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=) rs377389081 0.00001
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys) rs775590810 0.00001
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His) rs201035005 0.00001
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp) rs752291709 0.00001
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser) rs780908409 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser) rs1228163562 0.00001
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=) rs546825359 0.00001
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg) rs750318665 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn) rs773974101 0.00001
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=) rs753611948 0.00001
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val) rs201842315 0.00001
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser) rs1337272208 0.00001
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=) rs747734639 0.00001
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=) rs751630559 0.00001
NM_001849.4(COL6A2):c.2766G>A (p.Val922=) rs557446829 0.00001
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=) rs776437060 0.00001
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu) rs780505425 0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246 0.00001
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=) rs912421199 0.00001
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs) rs762385362 0.00001
NM_001849.4(COL6A2):c.2853C>A (p.Val951=) rs745419873 0.00001
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=) rs761975390 0.00001
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu) rs750097119 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=) rs759502409 0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr) rs777494468 0.00001
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484 0.00001
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile) rs753423696 0.00001
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val) rs754518986 0.00001
NM_001849.4(COL6A2):c.2988G>A (p.Val996=) rs1221541120 0.00001
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=) rs780794521 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val) rs1157175258 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His) rs751512548 0.00001
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=) rs751470018 0.00001
NM_001849.4(COL6A2):c.315G>A (p.Val105=) rs1467107121 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.33C>G (p.Leu11=) rs765568801 0.00001
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn) rs969934621 0.00001
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys) rs557545831 0.00001
NM_001849.4(COL6A2):c.389G>A (p.Arg130His) rs200387819 0.00001
NM_001849.4(COL6A2):c.390C>T (p.Arg130=) rs544610322 0.00001
NM_001849.4(COL6A2):c.408C>T (p.Cys136=) rs745970130 0.00001
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val) rs886044462 0.00001
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp) rs749711324 0.00001
NM_001849.4(COL6A2):c.459C>T (p.Thr153=) rs764014106 0.00001
NM_001849.4(COL6A2):c.468C>T (p.Phe156=) rs144117982 0.00001
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr) rs756242788 0.00001
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr) rs1454146707 0.00001
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile) rs886044102 0.00001
NM_001849.4(COL6A2):c.498C>T (p.Thr166=) rs762436629 0.00001
NM_001849.4(COL6A2):c.537G>A (p.Arg179=) rs762450920 0.00001
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys) rs766523982 0.00001
NM_001849.4(COL6A2):c.576C>T (p.Pro192=) rs757571306 0.00001
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu) rs559666084 0.00001
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg) rs751632108 0.00001
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn) rs776631856 0.00001
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu) rs1355259368 0.00001
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp) rs779287707 0.00001
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505 0.00001
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile) rs752359061 0.00001
NM_001849.4(COL6A2):c.714+14G>A rs781213927 0.00001
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.726C>T (p.Ala242=) rs767184248 0.00001
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys) rs1159588931 0.00001
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg) rs199806576 0.00001
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr) rs1354826916 0.00001
NM_001849.4(COL6A2):c.864G>A (p.Pro288=) rs375307603 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 0.00001
NM_001849.4(COL6A2):c.924G>A (p.Glu308=) rs142674726 0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) rs759838639 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NM_001849.4(COL6A2):c.951C>T (p.Arg317=) rs369190399 0.00001
NM_001849.4(COL6A2):c.955-10C>T rs751105293 0.00001
NM_001849.4(COL6A2):c.955-17C>T rs372393202 0.00001
NM_001849.4(COL6A2):c.955-6C>T rs781214021 0.00001
NM_001849.4(COL6A2):c.978G>A (p.Lys326=) rs1480541163 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NM_001849.4(COL6A2):c.987C>T (p.Thr329=) rs748215430 0.00001
NM_001849.4(COL6A2):c.999+7G>A rs199783099 0.00001
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
NC_000021.8:g.(?_47517033)_(47553763_?)dup
NC_000021.8:g.(?_47518024)_47552476dup
NC_000021.8:g.(?_47529674)_(47540994_?)del
NC_000021.8:g.(?_47529674)_47540994del
NC_000021.8:g.(?_47531391)_(47537387_?)dup
NC_000021.8:g.(?_47531391)_(47541057_?)del
NC_000021.8:g.(?_47532319)_(47533133_?)del
NC_000021.8:g.(?_47532747)_(47533970_?)del
NC_000021.8:g.(?_47533070)_47584395del
NC_000021.8:g.(?_47536545)_(47536748_?)dup
NC_000021.8:g.(?_47536737)_(47537399_?)del
NC_000021.8:g.(?_47542769)_(47546475_?)dup
NC_000021.8:g.(?_47543718)_(47545225_?)del
NC_000021.8:g.(?_47545204)_(47546372_?)del
NC_000021.8:g.(?_47545206)_(47546374_?)del
NC_000021.8:g.(?_47551858)_(47552476_?)dup
NC_000021.8:g.(?_47552285)_(47554633_?)del
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46111467)_(46121133_?)del
NC_000021.9:g.(?_46111477)_(46121123_?)del
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NC_000021.9:g.46116773dup
NC_000021.9:g.46119791_46119798dup
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.*105C>G rs538537601
NM_001849.4(COL6A2):c.*147C>T rs560095085
NM_001849.4(COL6A2):c.*219C>T rs1369422401
NM_001849.4(COL6A2):c.*296A>G rs112736574
NM_001849.4(COL6A2):c.*66C>G rs568256520
NM_001849.4(COL6A2):c.*88G>C rs369124688
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001849.4(COL6A2):c.1000-10T>C rs1036136617
NM_001849.4(COL6A2):c.1000-13C>T
NM_001849.4(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.4(COL6A2):c.1000-14C>T
NM_001849.4(COL6A2):c.1000-15C>T rs902044548
NM_001849.4(COL6A2):c.1000-1G>T rs1555873358
NM_001849.4(COL6A2):c.1000-2A>C rs1555873356
NM_001849.4(COL6A2):c.1000-2A>G rs1555873356
NM_001849.4(COL6A2):c.1004A>G (p.Lys335Arg)
NM_001849.4(COL6A2):c.1007T>C (p.Leu336Pro)
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg) rs2123631275
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1015A>G (p.Ile339Val) rs2123631317
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=) rs1568930411
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
NM_001849.4(COL6A2):c.1041C>T (p.Asp347=)
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg) rs2078490056
NM_001849.4(COL6A2):c.1046_1053+1del
NM_001849.4(COL6A2):c.1053+1G>A rs886043187
NM_001849.4(COL6A2):c.1053+1G>C rs886043187
NM_001849.4(COL6A2):c.1053+2T>A rs2123631474
NM_001849.4(COL6A2):c.1053+2T>C rs2123631474
NM_001849.4(COL6A2):c.1053+2T>G rs2123631474
NM_001849.4(COL6A2):c.1053+3A>T rs1555873388
NM_001849.4(COL6A2):c.1053+4dup
NM_001849.4(COL6A2):c.1054-12C>T
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1054-7C>G rs762738666
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.1059del (p.Asp354fs) rs1555873508
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His) rs188184732
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp) rs2078499825
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs) rs2078499771
NM_001849.4(COL6A2):c.1077A>G (p.Glu359=)
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.4(COL6A2):c.1079C>G (p.Ala360Gly) rs2078500027
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val) rs2078500027
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
NM_001849.4(COL6A2):c.1105C>T (p.Gln369Ter) rs1568930865
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.4(COL6A2):c.1116+6T>G
NM_001849.4(COL6A2):c.1117-4C>T rs2123635658
NM_001849.4(COL6A2):c.1117-8C>T rs1601231143
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=) rs760861317
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1]) rs2123635719
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser) rs2078399168
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1141A>C (p.Arg381=)
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
NM_001849.4(COL6A2):c.115+11_115+17del
NM_001849.4(COL6A2):c.115+12C>T
NM_001849.4(COL6A2):c.115+13G>A
NM_001849.4(COL6A2):c.115+16G>A
NM_001849.4(COL6A2):c.115+17G>A
NM_001849.4(COL6A2):c.115+17del
NM_001849.4(COL6A2):c.115+19C>T
NM_001849.4(COL6A2):c.115+19_115+25del rs757969178
NM_001849.4(COL6A2):c.115+5C>T
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.116-11G>A rs886057166
NM_001849.4(COL6A2):c.116-12T>C
NM_001849.4(COL6A2):c.116-14C>G
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
NM_001849.4(COL6A2):c.1165G>A (p.Ala389Thr)
NM_001849.4(COL6A2):c.1179+15_1179+17dup
NM_001849.4(COL6A2):c.1179+1G>A rs2078514224
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1179+20C>T
NM_001849.4(COL6A2):c.1179+2T>C
NM_001849.4(COL6A2):c.1180-10C>G rs777782503
NM_001849.4(COL6A2):c.1180-15C>T
NM_001849.4(COL6A2):c.1180-16T>C rs1355356965
NM_001849.4(COL6A2):c.1180-1G>A
NM_001849.4(COL6A2):c.1180-2A>G rs1601232289
NM_001849.4(COL6A2):c.1180-5_1180-3del rs774369631
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly) rs1248584370
NM_001849.4(COL6A2):c.1249del (p.Arg417fs) rs2078521344
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu) rs371383704
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg) rs2123637568
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu) rs761030439
NM_001849.4(COL6A2):c.1269+14G>A
NM_001849.4(COL6A2):c.1269+17C>A
NM_001849.4(COL6A2):c.1269+7C>T rs751071208
NM_001849.4(COL6A2):c.1269+9C>T
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
NM_001849.4(COL6A2):c.1270-15G>A
NM_001849.4(COL6A2):c.1270-8C>A rs1601233823
NM_001849.4(COL6A2):c.1270-8C>T
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys) rs761330909
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=) rs1601233959
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter) rs752730608
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
NM_001849.4(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=) rs1230708321
NM_001849.4(COL6A2):c.1308C>T (p.Gly436=)
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
NM_001849.4(COL6A2):c.132C>T (p.Pro44=) rs2123614144
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del) rs2078532600
NM_001849.4(COL6A2):c.1332+11G>T
NM_001849.4(COL6A2):c.1332+20C>T rs1222615509
NM_001849.4(COL6A2):c.1332+2T>C rs2078532687
NM_001849.4(COL6A2):c.1332+7C>T
NM_001849.4(COL6A2):c.1333-12C>T
NM_001849.4(COL6A2):c.1333-5C>T rs2078547153
NM_001849.4(COL6A2):c.1333-9_1333-5del rs1193152104
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser) rs1269914621
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
NM_001849.4(COL6A2):c.1375G>A (p.Val459Ile)
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=) rs1601235960
NM_001849.4(COL6A2):c.1395+20_1395+59dup rs1363017776
NM_001849.4(COL6A2):c.1395+5G>C rs1373123496
NM_001849.4(COL6A2):c.1395+7G>A
NM_001849.4(COL6A2):c.1395+7del
NM_001849.4(COL6A2):c.1395+9_1395+38del
NM_001849.4(COL6A2):c.1396-11C>T rs756557942
NM_001849.4(COL6A2):c.1396-20A>C rs1398193069
NM_001849.4(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.4(COL6A2):c.1396-4C>A
NM_001849.4(COL6A2):c.1396-8T>C
NM_001849.4(COL6A2):c.1396-8_1396-5del
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=) rs758072176
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn) rs1464567484
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala) rs2123614177
NM_001849.4(COL6A2):c.1415G>C (p.Gly472Ala)
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His) rs1472257957
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp) rs2123645059
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=) rs745867374
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=) rs528087300
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His) rs2078559618
NM_001849.4(COL6A2):c.1459-11C>T
NM_001849.4(COL6A2):c.1459-13C>G
NM_001849.4(COL6A2):c.1459-17T>C rs2123646541
NM_001849.4(COL6A2):c.1459-2A>G rs749974929
NM_001849.4(COL6A2):c.1459-2_1459-1del
NM_001849.4(COL6A2):c.1459-5C>G rs1362389378
NM_001849.4(COL6A2):c.1459-5del
NM_001849.4(COL6A2):c.1459-6C>T rs2078566233
NM_001849.4(COL6A2):c.1459-7C>G
NM_001849.4(COL6A2):c.1459-8G>A rs546206539
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly) rs727502829
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser) rs778917725
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del) rs2123646706
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=) rs2123646795
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
NM_001849.4(COL6A2):c.150G>T (p.Val50=) rs2123614200
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
NM_001849.4(COL6A2):c.1521+10C>T rs753385303
NM_001849.4(COL6A2):c.1521+16C>A
NM_001849.4(COL6A2):c.1521+16C>G
NM_001849.4(COL6A2):c.1521+17C>T
NM_001849.4(COL6A2):c.1521+19G>A
NM_001849.4(COL6A2):c.1521+2_1521+8dup
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1521+9C>T
NM_001849.4(COL6A2):c.1522-12G>C rs770511180
NM_001849.4(COL6A2):c.1522-13C>T
NM_001849.4(COL6A2):c.1522-17T>C
NM_001849.4(COL6A2):c.1522-18C>T
NM_001849.4(COL6A2):c.1522-1G>C
NM_001849.4(COL6A2):c.1522-20G>C
NM_001849.4(COL6A2):c.1522-3C>T
NM_001849.4(COL6A2):c.1522-8T>C
NM_001849.4(COL6A2):c.1522-9C>A rs371576207
NM_001849.4(COL6A2):c.1527C>T (p.Asp509=)
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=) rs199842179
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala) rs756315481
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs) rs2078576503
NM_001849.4(COL6A2):c.1553C>G (p.Pro518Arg) rs755451399
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His) rs2078576778
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+13C>G rs2078577323
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1572+5G>A
NM_001849.4(COL6A2):c.1573-13G>A rs771931533
NM_001849.4(COL6A2):c.1573-14T>C rs2078581898
NM_001849.4(COL6A2):c.1573-20G>A
NM_001849.4(COL6A2):c.1573-8C>T
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=) rs758975198
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=) rs1394972929
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
NM_001849.4(COL6A2):c.159C>G (p.Thr53=) rs2123614218
NM_001849.4(COL6A2):c.1601G>A (p.Gly534Asp)
NM_001849.4(COL6A2):c.1608+13C>G
NM_001849.4(COL6A2):c.1608+17G>C
NM_001849.4(COL6A2):c.1609-19C>T
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val) rs2123650884
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys) rs2123650926
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) rs773493556
NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)
NM_001849.4(COL6A2):c.1659G>A (p.Glu553=)
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=)
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser) rs2078589816
NM_001849.4(COL6A2):c.1671+10A>C rs915786
NM_001849.4(COL6A2):c.1671+12C>G
NM_001849.4(COL6A2):c.1671+13del
NM_001849.4(COL6A2):c.1671+1G>T
NM_001849.4(COL6A2):c.1671+4_1671+7del rs2078589929
NM_001849.4(COL6A2):c.1671+7G>A
NM_001849.4(COL6A2):c.1671+9_1671+10inv
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=) rs2078589880
NM_001849.4(COL6A2):c.1672-12G>C
NM_001849.4(COL6A2):c.1672-15_1672-13del
NM_001849.4(COL6A2):c.1672-20C>T
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr) rs1035008109
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser) rs1172190604
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg) rs2078631679
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser) rs2078397289
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu) rs2123658612
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=) rs2123658659
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
NM_001849.4(COL6A2):c.1718_1719inv (p.Gly573Val)
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
NM_001849.4(COL6A2):c.1734+12G>A
NM_001849.4(COL6A2):c.1734+16G>A
NM_001849.4(COL6A2):c.1734+9G>A
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT rs2123659310
NM_001849.4(COL6A2):c.1735G>C (p.Gly579Arg)
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=) rs764878153
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr) rs779979272
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
NM_001849.4(COL6A2):c.1751_1770+24dup rs2078635959
NM_001849.4(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu) rs1568938716
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys) rs142709940
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770+12A>G
NM_001849.4(COL6A2):c.1770+13T>C
NM_001849.4(COL6A2):c.1770+15G>C
NM_001849.4(COL6A2):c.1770+1G>A rs752803039
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1770+2T>C
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
NM_001849.4(COL6A2):c.1771-12T>C
NM_001849.4(COL6A2):c.1771-16G>A
NM_001849.4(COL6A2):c.1771-19C>T
NM_001849.4(COL6A2):c.1771-20G>C
NM_001849.4(COL6A2):c.1771-9G>A
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.1787C>T (p.Thr596Ile)
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
NM_001849.4(COL6A2):c.1793T>C (p.Val598Ala) rs2078643208
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=) rs370858447
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro) rs147892526
NM_001849.4(COL6A2):c.179A>G (p.Gln60Arg)
NM_001849.4(COL6A2):c.1802C>T (p.Thr601Ile)
NM_001849.4(COL6A2):c.1805G>A (p.Cys602Tyr)
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.4(COL6A2):c.1814G>A (p.Cys605Tyr)
NM_001849.4(COL6A2):c.1816+11G>A
NM_001849.4(COL6A2):c.1816+12C>G
NM_001849.4(COL6A2):c.1816+12C>T
NM_001849.4(COL6A2):c.1816+17G>A
NM_001849.4(COL6A2):c.1816+18_1816+30del
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1816+19_1816+28del
NM_001849.4(COL6A2):c.1816+20A>C
NM_001849.4(COL6A2):c.1816+3G>A
NM_001849.4(COL6A2):c.1816+6G>A
NM_001849.4(COL6A2):c.1816+9C>A rs1456625954
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn) rs747602311
NM_001849.4(COL6A2):c.1817-16C>G
NM_001849.4(COL6A2):c.1817-17C>T
NM_001849.4(COL6A2):c.1817-18A>C
NM_001849.4(COL6A2):c.1817-19G>A rs2123661488
NM_001849.4(COL6A2):c.1817-2A>C
NM_001849.4(COL6A2):c.1817-2A>G rs111697581
NM_001849.4(COL6A2):c.1817-2dup
NM_001849.4(COL6A2):c.1817-3C>A rs112645828
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_001849.4(COL6A2):c.1817-3C>T rs112645828
NM_001849.4(COL6A2):c.1817-3_1817-2del rs1491048605
NM_001849.4(COL6A2):c.1817-3del rs149954350
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-4C>A
NM_001849.4(COL6A2):c.1817-4C>T rs373659176
NM_001849.4(COL6A2):c.1817-4_1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-9C>T rs766915366
NM_001849.4(COL6A2):c.1821_1822del (p.Cys607_Glu608delinsTer)
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=) rs1451931496
NM_001849.4(COL6A2):c.1832G>A (p.Cys611Tyr)
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
NM_001849.4(COL6A2):c.1837G>A (p.Ala613Thr) rs146949791
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=) rs908989305
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His) rs267606750
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn) rs2078648587
NM_001849.4(COL6A2):c.1865G>T (p.Ser622Ile)
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe) rs2123661865
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
NM_001849.4(COL6A2):c.1884C>T (p.Tyr628=)
NM_001849.4(COL6A2):c.1886C>A (p.Thr629Asn) rs753019339
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=)
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr) rs2123662036
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala) rs141919484
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.4(COL6A2):c.1915A>G (p.Ile639Val)
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=) rs1472678084
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=) rs776676512
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=) rs1458485829
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=) rs547589437
NM_001849.4(COL6A2):c.1969+10G>T rs201259184
NM_001849.4(COL6A2):c.1969+11C>T
NM_001849.4(COL6A2):c.1969+12_1969+17dup rs760398644
NM_001849.4(COL6A2):c.1969+12_1969+38dup
NM_001849.4(COL6A2):c.1969+12_1969+48del rs2123662331
NM_001849.4(COL6A2):c.1969+12del
NM_001849.4(COL6A2):c.1969+17C>G rs539735984
NM_001849.4(COL6A2):c.1969+19G>A
NM_001849.4(COL6A2):c.1969+1G>T
NM_001849.4(COL6A2):c.1969+20G>C
NM_001849.4(COL6A2):c.1969+20G>T
NM_001849.4(COL6A2):c.1969+4A>G rs775997945
NM_001849.4(COL6A2):c.1969+7G>A
NM_001849.4(COL6A2):c.1970-12_1970-9dup
NM_001849.4(COL6A2):c.1970-14C>G
NM_001849.4(COL6A2):c.1970-14C>T rs749228434
NM_001849.4(COL6A2):c.1970-3C>T rs201879417
NM_001849.4(COL6A2):c.1970-4G>T
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.1980G>T (p.Val660=) rs201427728
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe) rs2078406730
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.4(COL6A2):c.2004G>A (p.Glu668=)
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=) rs369568238
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
NM_001849.4(COL6A2):c.2010C>T (p.Thr670=)
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter) rs1293736497
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=) rs1601249990
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.4(COL6A2):c.2043C>G (p.Ile681Met)
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His) rs376527297
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2051T>C (p.Leu684Pro)
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp) rs564873527
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del) rs2078657129
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser) rs2123663616
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser) rs794727418
NM_001849.4(COL6A2):c.20C>T (p.Ser7Phe)
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro) rs2123663738
NM_001849.4(COL6A2):c.2121C>T (p.Leu707=)
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val) rs1555875708
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter) rs531816975
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2142_2143insCTTG (p.Ile715fs)
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met) rs2123663867
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His) rs145450812
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=) rs2123663974
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.4(COL6A2):c.2175G>A (p.Val725=) rs2123663986
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=) rs1334569870
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.219C>G (p.Phe73Leu)
NM_001849.4(COL6A2):c.21C>T (p.Ser7=) rs760481395
NM_001849.4(COL6A2):c.2206dup (p.Asp736fs)
NM_001849.4(COL6A2):c.2207A>C (p.Asp736Ala)
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly) rs2078660025
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr) rs2123664136
NM_001849.4(COL6A2):c.220_231dup (p.Phe77_Ile78insValProGlnPhe)
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp) rs2123664140
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=) rs775259194
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=) rs962884368
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=) rs140643748
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2253C>A (p.Asp751Glu)
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
NM_001849.4(COL6A2):c.2267_2272del (p.Ala756_Ile757del)
NM_001849.4(COL6A2):c.2284A>G (p.Met762Val)
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
NM_001849.4(COL6A2):c.2292C>T (p.His764=)
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
NM_001849.4(COL6A2):c.2297A>G (p.Lys766Arg)
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) rs2078662535
NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His) rs2078662932
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser) rs1601251344
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
NM_001849.4(COL6A2):c.2325C>G (p.Ile775Met)
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=) rs757806161
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter) rs2123664803
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met) rs1194893303
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser) rs746466184
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=) rs775201159
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn) rs1312736604
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
NM_001849.4(COL6A2):c.2422+14C>T
NM_001849.4(COL6A2):c.2422+15G>A
NM_001849.4(COL6A2):c.2422+17G>A
NM_001849.4(COL6A2):c.2422+18G>A
NM_001849.4(COL6A2):c.2422+18G>T
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001849.4(COL6A2):c.2422+7G>A rs773282809
NM_001849.4(COL6A2):c.2422+7G>T rs773282809
NM_001849.4(COL6A2):c.2422+8T>C rs1220569382
NM_001849.4(COL6A2):c.2423-11CT[2] rs756221937
NM_001849.4(COL6A2):c.2423-11_2423-9del
NM_001849.4(COL6A2):c.2423-12C>T
NM_001849.4(COL6A2):c.2423-12_2423-6del
NM_001849.4(COL6A2):c.2423-17T>C
NM_001849.4(COL6A2):c.2423-18CT[2] rs2123666734
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
NM_001849.4(COL6A2):c.2423-19C>T
NM_001849.4(COL6A2):c.2423-3C>T
NM_001849.4(COL6A2):c.2424C>T (p.Asp808=) rs771205165
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.2433C>G (p.Ile811Met)
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=) rs2078672055
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=) rs2123667105
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
NM_001849.4(COL6A2):c.2461+11G>C
NM_001849.4(COL6A2):c.2461+15C>T rs1057002808
NM_001849.4(COL6A2):c.2461+9G>A rs2078672583
NM_001849.4(COL6A2):c.2462-20G>C
NM_001849.4(COL6A2):c.2462-20G>T
NM_001849.4(COL6A2):c.2462-3C>T rs766469768
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2462-8C>T rs1419954494
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
NM_001849.4(COL6A2):c.246G>A (p.Gln82=)
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2472G>A (p.Val824=) rs1484313723
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr) rs778134390
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter) rs2123454401
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro) rs2078765932
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg) rs2078765932
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
NM_001849.4(COL6A2):c.2495dup (p.Asp833fs)
NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs) rs2123454477
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val)
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp) rs2123454544
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=) rs748054346
NM_001849.4(COL6A2):c.2537A>T (p.Glu846Val)
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val) rs2078767000
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2559G>T (p.Arg853=)
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs) rs2123454645
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2568G>A (p.Val856=) rs2123454687
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
NM_001849.4(COL6A2):c.257A>C (p.Tyr86Ser)
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs) rs2123454751
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys) rs200488881
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=) rs144484744
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys) rs865872231
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.4(COL6A2):c.2605GAC[2] (p.Asp871del)
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=) rs147044688
NM_001849.4(COL6A2):c.2628C>A (p.Arg876=)
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met) rs369396198
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
NM_001849.4(COL6A2):c.2631G>A (p.Val877=)
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=) rs1339393899
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=) rs908318849
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs) rs2123455043
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg) rs770956606
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
NM_001849.4(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn) rs112139050
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
NM_001849.4(COL6A2):c.2716G>A (p.Glu906Lys)
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
NM_001849.4(COL6A2):c.2731C>G (p.Leu911Val)
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro) rs1290912034
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr) rs2123455277
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
NM_001849.4(COL6A2):c.2751G>A (p.Val917=) rs111341650
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg) rs2123455354
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2776_2784dup (p.Ile928_Val929insAsnAlaIle)
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu) rs1426096612
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs) rs745716104
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys) rs1321329142
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu) rs374384263
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=) rs200652329
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=) rs769894173
NM_001849.4(COL6A2):c.2825T>C (p.Leu942Pro)
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=) rs768497480
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=) rs768497480
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del) rs2123455541
NM_001849.4(COL6A2):c.2833G>A (p.Val945Met)
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu) rs2123455553
NM_001849.4(COL6A2):c.2835G>A (p.Val945=)
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile) rs111630733
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met) rs147670858
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=) rs138074469
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2865C>T (p.Asp955=)
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs)
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln) rs150168522
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro) rs2123455695
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn) rs373184224
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter) rs61735833
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser) rs201188174
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro) rs754429992
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.291C>T (p.Gly97=) rs1007921670
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=) rs2078774154
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
NM_001849.4(COL6A2):c.292G>A (p.Gly98Ser)
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
NM_001849.4(COL6A2):c.2940G>A (p.Val980=) rs886044694
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=) rs149845431
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His) rs2123456038
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=) rs6652
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs) rs1555877364
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu) rs1555877365
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=) rs1555877365
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter) rs142296092
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del) rs750794022
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
NM_001849.4(COL6A2):c.3000G>C (p.Lys1000Asn)
NM_001849.4(COL6A2):c.3005A>C (p.Tyr1002Ser)
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.4(COL6A2):c.3008A>G (p.Asp1003Gly)
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.300C>T (p.His100=) rs765941470
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=) rs2123456173
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del) rs2078776370
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
NM_001849.4(COL6A2):c.3034G>T (p.Asp1012Tyr)
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys) rs762516507
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys) rs2078776827
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
NM_001849.4(COL6A2):c.3058T>G (p.Ter1020Glu)
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
NM_001849.4(COL6A2):c.3059_*1dup (p.Ter1020=)
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg) rs1365013453
NM_001849.4(COL6A2):c.345G>A (p.Arg115=) rs138007666
NM_001849.4(COL6A2):c.345G>C (p.Arg115=)
NM_001849.4(COL6A2):c.363C>T (p.Asn121=)
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.393C>T (p.Gly131=)
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
NM_001849.4(COL6A2):c.399C>T (p.Phe133=) rs547695695
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile) rs2078397134
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.415G>T (p.Ala139Ser)
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly) rs749711324
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met) rs866311790
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter) rs2123615453
NM_001849.4(COL6A2):c.445C>T (p.Arg149Cys)
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
NM_001849.4(COL6A2):c.454G>A (p.Gly152Ser)
NM_001849.4(COL6A2):c.454_455insCA (p.Gly152fs)
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del) rs2078413886
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
NM_001849.4(COL6A2):c.513G>A (p.Gly171=) rs1291272464
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
NM_001849.4(COL6A2):c.531C>T (p.Ala177=)
NM_001849.4(COL6A2):c.543C>T (p.Arg181=)
NM_001849.4(COL6A2):c.543_735+396del rs2078415602
NM_001849.4(COL6A2):c.54C>G (p.Ile18Met) rs199902438
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu) rs376291264
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
NM_001849.4(COL6A2):c.565G>A (p.Ala189Thr)
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_001849.4(COL6A2):c.566C>T (p.Ala189Val)
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.586C>T (p.Leu196=) rs1222208626
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr) rs2078398153
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met) rs760395633
NM_001849.4(COL6A2):c.626A>T (p.His209Leu) rs1413478268
NM_001849.4(COL6A2):c.627C>G (p.His209Gln) rs545218705
NM_001849.4(COL6A2):c.627C>T (p.His209=) rs545218705
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs) rs1375040481
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.655A>G (p.Met219Val)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met) rs773058625
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe) rs2078418524
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del) rs775693562
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
NM_001849.4(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.4(COL6A2):c.702C>T (p.Ile234=) rs1369161493
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
NM_001849.4(COL6A2):c.714+18G>A
NM_001849.4(COL6A2):c.714+1G>C rs2078419667
NM_001849.4(COL6A2):c.714+7C>T
NM_001849.4(COL6A2):c.714+8G>A rs1489436620
NM_001849.4(COL6A2):c.714+8G>T
NM_001849.4(COL6A2):c.715-14T>C
NM_001849.4(COL6A2):c.715-18T>C
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
NM_001849.4(COL6A2):c.735+6T>C rs2078423797
NM_001849.4(COL6A2):c.735+9_784del
NM_001849.4(COL6A2):c.736-1G>A rs1601221868
NM_001849.4(COL6A2):c.736-1G>C rs1601221868
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.736-8C>T
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile) rs2123612816
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
NM_001849.4(COL6A2):c.745G>A (p.Val249Met) rs1454103225
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
NM_001849.4(COL6A2):c.75C>T (p.Val25=) rs2078398447
NM_001849.4(COL6A2):c.767G>T (p.Gly256Val)
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
NM_001849.4(COL6A2):c.780C>T (p.Pro260=) rs1021304559
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys) rs2123620765
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val) rs886042943
NM_001849.4(COL6A2):c.789C>T (p.Tyr263=)
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu) rs2078438903
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) rs753370790
NM_001849.4(COL6A2):c.801+1G>A rs794727715
NM_001849.4(COL6A2):c.801+1G>T rs794727715
NM_001849.4(COL6A2):c.801+20T>A
NM_001849.4(COL6A2):c.801+2T>G
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.801G>A (p.Lys267=) rs2078439012
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.802-9T>C
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser) rs2123625485
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg) rs2123625485
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val) rs397515333
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser) rs2078462673
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp) rs2123625569
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.830del (p.Gly277fs) rs1555872819
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp) rs1568928804
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val) rs886044088
NM_001849.4(COL6A2):c.851G>A (p.Arg284Lys)
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
NM_001849.4(COL6A2):c.854A>G (p.Gln285Arg)
NM_001849.4(COL6A2):c.855+16C>T
NM_001849.4(COL6A2):c.855+1G>A rs1057517988
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_001849.4(COL6A2):c.855+38_856-32del
NM_001849.4(COL6A2):c.855+4_855+7del rs2123625716
NM_001849.4(COL6A2):c.855G>A (p.Gln285=)
NM_001849.4(COL6A2):c.856-15C>T
NM_001849.4(COL6A2):c.856-1G>T
NM_001849.4(COL6A2):c.856-24_856-10del
NM_001849.4(COL6A2):c.856-2A>G rs886044466
NM_001849.4(COL6A2):c.856-9C>T
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg) rs2123626018
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser) rs727502828
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu) rs2123626138
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val) rs2123626138
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg) rs797045478
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu) rs2123626180
NM_001849.4(COL6A2):c.900+12C>T
NM_001849.4(COL6A2):c.900+1G>A rs886044261
NM_001849.4(COL6A2):c.900+1G>T
NM_001849.4(COL6A2):c.900+2T>G
NM_001849.4(COL6A2):c.900+5G>A
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
NM_001849.4(COL6A2):c.901-10C>T rs754039292
NM_001849.4(COL6A2):c.901-11_901-9del
NM_001849.4(COL6A2):c.901-20C>T
NM_001849.4(COL6A2):c.901-20CT[2] rs563354608
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001849.4(COL6A2):c.901-6_903del rs2123627113
NM_001849.4(COL6A2):c.901-9_909del
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser) rs886042705
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp) rs1555872965
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu) rs1472672400
NM_001849.4(COL6A2):c.927+12G>T
NM_001849.4(COL6A2):c.927+14C>T
NM_001849.4(COL6A2):c.927+16T>C rs2123627287
NM_001849.4(COL6A2):c.927+5G>A
NM_001849.4(COL6A2):c.927+5G>C
NM_001849.4(COL6A2):c.927+6G>A
NM_001849.4(COL6A2):c.927+9_927+21del rs2123627262
NM_001849.4(COL6A2):c.928-11C>T
NM_001849.4(COL6A2):c.928-11del rs2123628057
NM_001849.4(COL6A2):c.928-16C>T
NM_001849.4(COL6A2):c.928-18G>A
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
NM_001849.4(COL6A2):c.948T>C (p.Gly316=) rs764665426
NM_001849.4(COL6A2):c.949C>T (p.Arg317Cys)
NM_001849.4(COL6A2):c.954+14G>A rs2123628304
NM_001849.4(COL6A2):c.954+16A>C
NM_001849.4(COL6A2):c.954+1G>A
NM_001849.4(COL6A2):c.954+1G>C rs2123628251
NM_001849.4(COL6A2):c.954+3A>G rs2123628260
NM_001849.4(COL6A2):c.954+8G>A rs1377719373
NM_001849.4(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.955-15T>G
NM_001849.4(COL6A2):c.955-19C>T
NM_001849.4(COL6A2):c.955-1G>A rs886044265
NM_001849.4(COL6A2):c.955-1G>C rs886044265
NM_001849.4(COL6A2):c.955-2A>C rs1555873084
NM_001849.4(COL6A2):c.955-2del rs2078477419
NM_001849.4(COL6A2):c.955-3C>G rs1208931749
NM_001849.4(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val) rs1444127463
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
NM_001849.4(COL6A2):c.998del (p.Lys333fs) rs2123628814
NM_001849.4(COL6A2):c.999+12C>T
NM_001849.4(COL6A2):c.999+15G>C
NM_001849.4(COL6A2):c.999+18C>T
NM_001849.4(COL6A2):c.999+20C>T
NM_001849.4(COL6A2):c.999+6G>A
NM_001849.4(COL6A2):c.999+9_1053+32del rs2078478648
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA rs2123628848
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)

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