ClinVar Miner

List of variants in gene COL6A2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 856
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1521+212A>G rs915785 0.99997
NM_001849.4(COL6A2):c.1609-134dup rs5844253 0.99970
NM_001849.4(COL6A2):c.1333-198A>C rs13051907 0.87582
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_001849.4(COL6A2):c.1117-218A>T rs2070577 0.81646
NM_001849.4(COL6A2):c.1672-257T>C rs2839111 0.81112
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_001849.4(COL6A2):c.1116+200G>A rs7279535 0.72676
NM_001849.4(COL6A2):c.802-250T>G rs8133910 0.70308
NM_001849.4(COL6A2):c.1116+221G>A rs12483267 0.64517
NM_001849.4(COL6A2):c.2422+93T>C rs13050660 0.59886
NM_001849.4(COL6A2):c.1333-229C>T rs4458293 0.56432
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.1395+234G>A rs743504 0.45766
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.1333-243C>T rs2330397 0.45093
NM_001849.4(COL6A2):c.1333-169C>T rs13051514 0.44761
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.2462-2239T>A rs1044598 0.44226
NM_001849.4(COL6A2):c.-27-149C>T rs13050828 0.43985
NM_001849.4(COL6A2):c.714+53C>T rs1010688 0.43341
NM_001849.4(COL6A2):c.1572+148C>T rs2070578 0.42712
NM_001849.4(COL6A2):c.2461+2100A>C rs2839116 0.33720
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001849.4(COL6A2):c.1395+82G>A rs743503 0.28903
NM_001849.4(COL6A2):c.1270-169T>C rs9980483 0.27115
NM_001849.4(COL6A2):c.1179+101G>T rs9917540 0.26285
NM_001849.4(COL6A2):c.1522-199_1522-198insT rs113533729 0.19806
NM_001849.4(COL6A2):c.1609-155T>C rs17272671 0.17125
NM_001849.4(COL6A2):c.1672-177T>C rs2839112 0.15113
NM_001849.4(COL6A2):c.1734+35A>G rs55933135 0.15106
NM_001849.4(COL6A2):c.1817-69T>C rs16978870 0.15050
NM_001849.4(COL6A2):c.1332+286C>T rs6147541 0.13705
NM_001849.4(COL6A2):c.2462-2358G>C rs7717 0.12590
NM_001849.4(COL6A2):c.2462-2299T>C rs559 0.12552
NM_001849.4(COL6A2):c.1522-36T>C rs9976026 0.12352
NM_001849.4(COL6A2):c.1459-168A>G rs1076850 0.11962
NM_001849.4(COL6A2):c.1521+21A>G rs1077182 0.11912
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_001849.4(COL6A2):c.1333-264G>A rs73908533 0.09396
NM_001849.4(COL6A2):c.1332+293T>C rs13047567 0.09327
NM_001849.4(COL6A2):c.714+45C>T rs2070957 0.09326
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_001849.4(COL6A2):c.1332+290T>G rs113862910 0.08743
NM_001849.4(COL6A2):c.2462-2255C>T rs3088026 0.08440
NM_001849.4(COL6A2):c.2423-35C>A rs16978878 0.07566
NM_001849.4(COL6A2):c.2422+112C>A rs79666692 0.07152
NM_001849.4(COL6A2):c.1671+180C>T rs78767263 0.07103
NM_001849.4(COL6A2):c.901-111C>T rs2839109 0.06181
NM_001849.4(COL6A2):c.1735-72G>A rs9981879 0.06148
NM_001849.4(COL6A2):c.1817-33C>T rs2276101 0.06112
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001849.4(COL6A2):c.1771-159G>A rs73382469 0.06084
NM_001849.4(COL6A2):c.1000-168C>T rs75988761 0.06042
NM_001849.4(COL6A2):c.714+62A>G rs112472569 0.05824
NM_001849.4(COL6A2):c.2423-83T>C rs17272947 0.05789
NM_001849.4(COL6A2):c.2462-2311A>G rs73161620 0.05740
NM_001849.4(COL6A2):c.1672-37G>T rs79205686 0.05715
NM_001849.4(COL6A2):c.1573-32C>T rs17272651 0.05679
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_001849.4(COL6A2):c.901-125G>A rs41353548 0.05411
NM_001849.4(COL6A2):c.1609-163G>A rs80117819 0.04515
NM_001849.4(COL6A2):c.714+29G>A rs11089047 0.04085
NM_001849.4(COL6A2):c.714+102G>A rs11089048 0.04069
NM_001849.4(COL6A2):c.1000-92G>A rs143691012 0.04049
NM_001849.4(COL6A2):c.2462-172C>T rs2839123 0.03940
NM_001849.4(COL6A2):c.1332+120A>C rs114994097 0.03673
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.1117-279G>A rs12483283 0.03426
NM_001849.4(COL6A2):c.2462-274G>A rs16978913 0.03233
NM_001849.4(COL6A2):c.-27-265G>T rs112710668 0.02708
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001849.4(COL6A2):c.801+209G>A rs145937262 0.02547
NM_001849.4(COL6A2):c.1053+193G>A rs141960812 0.02251
NM_001849.4(COL6A2):c.1522-215G>A rs115951307 0.02111
NM_001849.4(COL6A2):c.1333-195G>T rs114984641 0.02052
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001849.4(COL6A2):c.1332+272G>A rs200878857 0.01856
NM_001849.4(COL6A2):c.2462-2172T>C rs114837591 0.01835
NM_001849.4(COL6A2):c.-27-108G>C rs77745490 0.01707
NM_001849.4(COL6A2):c.-27-89G>A rs115342490 0.01650
NM_001849.4(COL6A2):c.1269+32C>T rs76825716 0.01637
NM_001849.4(COL6A2):c.1117-56C>G rs79332626 0.01634
NM_001849.4(COL6A2):c.1054-100A>C rs114067391 0.01626
NM_001849.4(COL6A2):c.1117-203G>A rs73908532 0.01609
NM_001849.4(COL6A2):c.999+71A>T rs147649367 0.01604
NM_001849.4(COL6A2):c.-27-243C>A rs9977654 0.01520
NM_001849.4(COL6A2):c.1735-70C>T rs73908536 0.01312
NM_001849.4(COL6A2):c.802-30G>A rs73908531 0.01112
NM_001849.4(COL6A2):c.736-289G>A rs112052718 0.01104
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.2422+50C>T rs80122874 0.00994
NM_001849.4(COL6A2):c.1396-103C>T rs114418999 0.00987
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001849.4(COL6A2):c.1053+92G>A rs73382444 0.00952
NM_001849.4(COL6A2):c.1116+212C>T rs533913213 0.00804
NM_001849.4(COL6A2):c.2462-117C>T rs75802540 0.00804
NM_001849.4(COL6A2):c.1459-177C>T rs7281832 0.00752
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001849.4(COL6A2):c.735+194C>T rs150456196 0.00647
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.1116+123G>A rs115156393 0.00599
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_001849.4(COL6A2):c.1270-190G>A rs147613619 0.00520
NM_001849.4(COL6A2):c.2423-42G>A rs115841845 0.00492
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.1332+149A>C rs182808615 0.00314
NM_001849.4(COL6A2):c.1000-165C>T rs185275622 0.00308
NM_001849.4(COL6A2):c.1116+39C>T rs180796593 0.00302
NM_001849.4(COL6A2):c.714+23G>A rs139181770 0.00286
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.1771-22C>T rs184405489 0.00225
NM_001849.4(COL6A2):c.2461+2323C>T rs200968911 0.00213
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.492C>T (p.His164=) rs140929054 0.00101
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
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_001849.4(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.2982C>T (p.Ala994=) rs145460820 0.00048
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_058174.3(COL6A2):c.2467C>A (p.Pro823Thr) rs78231002 0.00046
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_001849.4(COL6A2):c.2461+2399G>A rs148762354 0.00042
NM_001849.4(COL6A2):c.*19G>A rs376175555 0.00037
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092 0.00035
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.*4C>T rs370155138 0.00032
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.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.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.1521+35G>A rs185036029 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.786C>G (p.Gly262=) rs145500808 0.00016
NM_001849.4(COL6A2):c.942C>T (p.Ala314=) rs531713008 0.00016
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.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.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.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys) rs369344885 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 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.189G>A (p.Thr63=) rs143583433 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.446G>A (p.Arg149His) rs143891262 0.00010
NM_001849.4(COL6A2):c.116-6C>T rs761805565 0.00009
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) rs878854386 0.00009
NM_001849.4(COL6A2):c.1458+9_1458+14del rs762583937 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.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+8T>C rs370008311 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val) rs373846012 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.2678C>T (p.Pro893Leu) rs779242861 0.00008
NM_001849.4(COL6A2):c.672C>T (p.Thr224=) rs759388890 0.00008
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=) rs139571947 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.2518G>A (p.Gly840Ser) rs373862445 0.00007
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.981C>T (p.Asn327=) rs768836349 0.00007
NM_001849.4(COL6A2):c.*2G>A rs201875609 0.00006
NM_001849.4(COL6A2):c.-6G>A rs757279009 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.1348G>C (p.Glu450Gln) rs757846451 0.00006
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050 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.2016G>A (p.Glu672=) rs146323303 0.00006
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 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.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=) rs369756029 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.356T>C (p.Ile119Thr) rs374011338 0.00006
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00006
NM_001849.4(COL6A2):c.698G>A (p.Arg233His) rs146742517 0.00006
NM_001849.4(COL6A2):c.*1C>T rs376976896 0.00005
NM_001849.4(COL6A2):c.116-3C>T rs767597831 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.1661A>G (p.Lys554Arg) rs754196388 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 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.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.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.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.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.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.202T>C (p.Phe68Leu) rs766930447 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.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.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.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=) rs757818559 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.649G>A (p.Ala217Thr) rs530625182 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
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.1359C>T (p.Arg453=) rs750842859 0.00003
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=) rs145012001 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_001849.4(COL6A2):c.162G>A (p.Ser54=) rs780123839 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.1829G>A (p.Arg610His) rs758550765 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 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.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 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.2595G>A (p.Leu865=) rs1474756520 0.00003
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr) rs372523558 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.471C>T (p.Ala157=) rs372298335 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.605G>A (p.Arg202Gln) rs573648060 0.00003
NM_001849.4(COL6A2):c.612C>T (p.Ile204=) rs773143298 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.904G>A (p.Val302Ile) rs755822013 0.00003
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.115+2T>C rs770842374 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.1270-3C>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.1797G>C (p.Arg599Ser) rs370858447 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.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 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.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.2749G>A (p.Val917Met) rs145381639 0.00002
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168 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.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.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.928-10T>A rs747608945 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.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 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.1198G>A (p.Gly400Arg) rs1064796261 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1332+10C>T rs886042745 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.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 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.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=) rs199842179 0.00001
NM_001849.4(COL6A2):c.1531G>A (p.Gly511Ser) rs727502833 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 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.1609-5C>T rs1201782306 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.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1771-8C>T rs886042687 0.00001
NM_001849.4(COL6A2):c.1816G>C (p.Asp606His) rs747602311 0.00001
NM_001849.4(COL6A2):c.1831T>C (p.Cys611Arg) rs794727399 0.00001
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met) rs746193653 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.1895C>T (p.Thr632Ile) rs1042338524 0.00001
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile) rs554113319 0.00001
NM_001849.4(COL6A2):c.1947T>C (p.Ala649=) rs751668448 0.00001
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met) rs758788067 0.00001
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu) rs746159648 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.2241G>A (p.Leu747=) rs398123649 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2268C>T (p.Ala756=) rs1322159209 0.00001
NM_001849.4(COL6A2):c.2377G>A (p.Val793Ile) rs774600998 0.00001
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=) rs754203636 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=) rs776788517 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.2465T>C (p.Leu822Pro) rs1243558040 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=) rs377389081 0.00001
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs) rs1413628703 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.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2687A>C (p.His896Pro) rs886044383 0.00001
NM_001849.4(COL6A2):c.2691C>T (p.Asn897=) rs1178660708 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=) rs747734639 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.2879C>T (p.Ser960Leu) rs750097119 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.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.386G>A (p.Arg129His) rs1267725555 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.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.623C>T (p.Pro208Leu) rs559666084 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.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg) rs199806576 0.00001
NM_001849.4(COL6A2):c.773C>G (p.Ser258Cys) rs770303583 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 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.955-10C>T rs751105293 0.00001
NM_001849.4(COL6A2):c.960C>T (p.Ala320=) rs886044473 0.00001
NM_001849.4(COL6A2):c.987C>T (p.Thr329=) rs748215430 0.00001
GRCh37/hg19 21q22.3(chr21:47533922-47535967)x1
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
GRCh37/hg19 21q22.3(chr21:47551909-47552350)x1
GRCh37/hg19 21q22.3(chr21:47551909-47552386)x1
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.-28+99T>C rs2277817
NM_001849.4(COL6A2):c.1000-1G>T rs1555873358
NM_001849.4(COL6A2):c.1000-2A>C rs1555873356
NM_001849.4(COL6A2):c.1000-2_1000-1inv
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1015A>G (p.Ile339Val) rs2123631317
NM_001849.4(COL6A2):c.1017C>G (p.Ile339Met)
NM_001849.4(COL6A2):c.1024C>T (p.Pro342Ser)
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=) rs1568930411
NM_001849.4(COL6A2):c.1031G>A (p.Cys344Tyr) rs886043223
NM_001849.4(COL6A2):c.1031G>C (p.Cys344Ser)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1042C>T (p.Pro348Ser)
NM_001849.4(COL6A2):c.1043C>T (p.Pro348Leu) rs886043426
NM_001849.4(COL6A2):c.1053+130_1053+143del rs58873991
NM_001849.4(COL6A2):c.1053+1G>A rs886043187
NM_001849.4(COL6A2):c.1053+1G>C rs886043187
NM_001849.4(COL6A2):c.1053+2del rs886044140
NM_001849.4(COL6A2):c.1053+58C>T rs57870436
NM_001849.4(COL6A2):c.1054-119dup rs5844252
NM_001849.4(COL6A2):c.1054-13_1054-10del rs886043730
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1055G>A (p.Gly352Asp) rs2123632697
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His) rs188184732
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.4(COL6A2):c.1071G>C (p.Pro357=) rs746727003
NM_001849.4(COL6A2):c.1079C>G (p.Ala360Gly) rs2078500027
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1117-204C>T rs73382451
NM_001849.4(COL6A2):c.1117-35_1118dup rs1555873698
NM_001849.4(COL6A2):c.1117-9C>T rs1057523383
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1135G>A (p.Gly379Arg) rs2078513383
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1142G>C (p.Arg381Thr) rs1057519185
NM_001849.4(COL6A2):c.1148C>T (p.Pro383Leu)
NM_001849.4(COL6A2):c.115+2_115+8del rs1407260029
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.1151C>T (p.Pro384Leu) rs754947548
NM_001849.4(COL6A2):c.116-7C>T rs774578429
NM_001849.4(COL6A2):c.116-8C>T rs1359608410
NM_001849.4(COL6A2):c.1165G>T (p.Ala389Ser)
NM_001849.4(COL6A2):c.1180-1G>C rs751409618
NM_001849.4(COL6A2):c.119A>C (p.Lys40Thr)
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.4(COL6A2):c.1249C>T (p.Arg417Cys) rs1248584370
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1269+7C>T rs751071208
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1277_1291del (p.Arg426_Gly430del) rs1555873962
NM_001849.4(COL6A2):c.1315G>A (p.Gly439Ser)
NM_001849.4(COL6A2):c.1332+271del rs3831407
NM_001849.4(COL6A2):c.1332+277_1332+278del rs3831408
NM_001849.4(COL6A2):c.1332+285_1332+286insTACCGCTCACCCCCCGGCCCCCACTGAGG rs1342528281
NM_001849.4(COL6A2):c.1332+299dup rs56335207
NM_001849.4(COL6A2):c.1332+303_1332+304dup rs56053057
NM_001849.4(COL6A2):c.1333-80C>T rs79433633
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.1396-11_1396-2del rs886044484
NM_001849.4(COL6A2):c.1396-133G>C rs55964853
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.143A>T (p.Tyr48Phe) rs780803351
NM_001849.4(COL6A2):c.1458+1G>A rs886044526
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1459-63G>A rs914794771
NM_001849.4(COL6A2):c.1459-76C>T rs115344658
NM_001849.4(COL6A2):c.1459-82_1459-63del rs1331564391
NM_001849.4(COL6A2):c.1459-8G>A rs546206539
NM_001849.4(COL6A2):c.1472A>G (p.Asp491Gly) rs754954890
NM_001849.4(COL6A2):c.1479dup (p.Asp494Ter) rs2123646701
NM_001849.4(COL6A2):c.14C>T (p.Thr5Ile) rs886043160
NM_001849.4(COL6A2):c.1521+10C>T rs753385303
NM_001849.4(COL6A2):c.1521+1G>A rs2123646873
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1522-1G>A rs398123646
NM_001849.4(COL6A2):c.1533C>T (p.Gly511=) rs750694212
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1572+2dup rs1568935182
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1573G>C (p.Gly525Arg) rs1555874709
NM_001849.4(COL6A2):c.1612G>C (p.Gly538Arg) rs886044032
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
NM_001849.4(COL6A2):c.1645G>A (p.Gly549Arg) rs773629714
NM_001849.4(COL6A2):c.1649G>A (p.Arg550Lys) rs373609986
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.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1671+254_1671+332del rs1568936278
NM_001849.4(COL6A2):c.1672-103del rs36033678
NM_001849.4(COL6A2):c.1672-104_1672-103del rs36033678
NM_001849.4(COL6A2):c.1672-111C>T rs369935000
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1687C>T (p.Pro563Ser) rs753877868
NM_001849.4(COL6A2):c.1688dup (p.Gly564fs) rs1568938325
NM_001849.4(COL6A2):c.1706G>T (p.Arg569Leu)
NM_001849.4(COL6A2):c.1734+10_1734+12del rs1197848901
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
NM_001849.4(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.4(COL6A2):c.175A>C (p.Met59Leu) rs914450923
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+1G>A rs752803039
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1771-9G>T rs886042686
NM_001849.4(COL6A2):c.1772A>T (p.Glu591Val) rs1568939145
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.1795A>G (p.Arg599Gly)
NM_001849.4(COL6A2):c.1815C>G (p.Cys605Trp)
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1817-2A>G rs111697581
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-9C>T rs766915366
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1858_1860del (p.Ile620del)
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1868C>G (p.Ser623Cys) rs2123661865
NM_001849.4(COL6A2):c.186dup (p.Thr63fs) rs886041439
NM_001849.4(COL6A2):c.1874G>A (p.Ser625Asn)
NM_001849.4(COL6A2):c.1875C>T (p.Ser625=) rs1221080628
NM_001849.4(COL6A2):c.1931G>A (p.Arg644Lys)
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=) rs776676512
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=) rs547589437
NM_001849.4(COL6A2):c.1961C>A (p.Ser654Tyr)
NM_001849.4(COL6A2):c.1975C>G (p.Arg659Gly)
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.1998C>G (p.Ser666Arg) rs398123647
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2001C>T (p.His667=) rs886042174
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs) rs1064795685
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His) rs376527297
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2082_2083dup (p.Glu695fs) rs2123663539
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser) rs794727418
NM_001849.4(COL6A2):c.2113T>C (p.Ser705Pro) rs398123648
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
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.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2145C>T (p.Ile715=) rs1384437929
NM_001849.4(COL6A2):c.2182_2184delinsATA (p.Val728Ile)
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys) rs886038496
NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)
NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2254G>T (p.Val752Phe)
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.2258_2259del (p.Thr753fs) rs2078661471
NM_001849.4(COL6A2):c.2269A>G (p.Ile757Val)
NM_001849.4(COL6A2):c.2284_2285del (p.Met762fs) rs778129335
NM_001849.4(COL6A2):c.2302G>A (p.Glu768Lys)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
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.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2380G>A (p.Ala794Thr)
NM_001849.4(COL6A2):c.2392_2394del (p.Ile798del) rs886043731
NM_001849.4(COL6A2):c.2394C>G (p.Ile798Met) rs756575729
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
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.2423-11CT[2] rs756221937
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC rs138363207
NM_001849.4(COL6A2):c.2423-22_2423-18dup rs138363207
NM_001849.4(COL6A2):c.2423-2_2426del
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.244C>T (p.Gln82Ter) rs886041447
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+2035G>A rs6518273
NM_001849.4(COL6A2):c.2461+2355G>A
NM_001849.4(COL6A2):c.2461+2370G>A rs9977766
NM_001849.4(COL6A2):c.2461+299G>T rs77102533
NM_001849.4(COL6A2):c.2462-204T>C rs2839122
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2515_2516del (p.Asp839fs) rs1064793394
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
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.2626C>T (p.Arg876Cys) rs387906608
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met) rs369396198
NM_001849.4(COL6A2):c.2634G>C (p.Ala878=)
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
NM_001849.4(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001849.4(COL6A2):c.2658C>A (p.Gly886=) rs143168888
NM_001849.4(COL6A2):c.265C>T (p.Gln89Ter) rs1555871390
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.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2702_2722del (p.Ile901_Thr907del) rs886044097
NM_001849.4(COL6A2):c.2702_2724delinsCG (p.Ile901_Thr907del)
NM_001849.4(COL6A2):c.2712G>T (p.Ala904=) rs139116075
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
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.2748C>A (p.His916Gln) rs372206114
NM_001849.4(COL6A2):c.2751G>A (p.Val917=) rs111341650
NM_001849.4(COL6A2):c.2758G>A (p.Gly920Ser)
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>A (p.Val922Met)
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2830_2832del (p.Phe944del) rs769426922
NM_001849.4(COL6A2):c.2833G>T (p.Val945Leu) rs762041959
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2858G>C (p.Gly953Ala) rs895235616
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln) rs150168522
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2924C>T (p.Ala975Val)
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=) rs2078774154
NM_001849.4(COL6A2):c.2940G>A (p.Val980=) rs886044694
NM_001849.4(COL6A2):c.2940G>C (p.Val980=)
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2968C>G (p.Leu990Val) rs746012569
NM_001849.4(COL6A2):c.2981CCG[1] (p.Ala995del) rs768109283
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.3005_3006del (p.Asp1001_Tyr1002insTer)
NM_001849.4(COL6A2):c.3016G>A (p.Ala1006Thr)
NM_001849.4(COL6A2):c.3019C>G (p.Gln1007Glu) rs1555877377
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys) rs762516507
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln) rs886044576
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
NM_001849.4(COL6A2):c.339C>T (p.Ser113=)
NM_001849.4(COL6A2):c.345G>A (p.Arg115=) rs138007666
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.431A>G (p.Gln144Arg) rs1555871542
NM_001849.4(COL6A2):c.531dup (p.Glu178fs) rs2078415221
NM_001849.4(COL6A2):c.565G>A (p.Ala189Thr)
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.599G>T (p.Gly200Val)
NM_001849.4(COL6A2):c.619A>G (p.Thr207Ala) rs1568926292
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.627C>T (p.His209=) rs545218705
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.4(COL6A2):c.643G>T (p.Asp215Tyr)
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.706A>G (p.Lys236Glu)
NM_001849.4(COL6A2):c.714G>A (p.Met238Ile)
NM_001849.4(COL6A2):c.736-160del rs149477463
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.736-7_739del rs1555872143
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.4(COL6A2):c.796_801+6del rs1555872200
NM_001849.4(COL6A2):c.801+1G>A rs794727715
NM_001849.4(COL6A2):c.801+1G>T rs794727715
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.801+57T>C rs114008288
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp) rs794727788
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser) rs2078462673
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.830del (p.Gly277fs) rs1555872819
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.839G>T (p.Gly280Val)
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.847G>C (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.855+1G>A rs1057517988
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.855+2T>G rs113525292
NM_001849.4(COL6A2):c.856-2A>C rs886044466
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.4(COL6A2):c.865G>T (p.Gly289Cys) rs886043270
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.869_899del (p.Ile290fs) rs2123626073
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala) rs1487638242
NM_001849.4(COL6A2):c.893G>T (p.Gly298Val) rs1487638242
NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)
NM_001849.4(COL6A2):c.900+1G>A rs886044261
NM_001849.4(COL6A2):c.900+1G>C rs886044261
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser) rs886042705
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.4(COL6A2):c.948T>C (p.Gly316=) rs764665426
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter) rs547648292
NM_001849.4(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.4(COL6A2):c.955-1G>A rs886044265
NM_001849.4(COL6A2):c.955-3C>T
NM_001849.4(COL6A2):c.955-8C>T rs398123651
NM_001849.4(COL6A2):c.957G>C (p.Gly319=)
NM_001849.4(COL6A2):c.971C>G (p.Ala324Gly) rs886043229
NM_001849.4(COL6A2):c.989A>T (p.Asp330Val)
NM_001849.4(COL6A2):c.999+113AC[14] rs59060956
NM_001849.4(COL6A2):c.999+113AC[16] rs59060956
NM_001849.4(COL6A2):c.999+113AC[17] rs59060956
NM_001849.4(COL6A2):c.999+113AC[18] rs59060956
NM_001849.4(COL6A2):c.999+113AC[19] rs59060956
NM_001849.4(COL6A2):c.999+113AC[20] rs59060956
NM_001849.4(COL6A2):c.999G>A (p.Lys333=) rs886042908
NM_058174.3(COL6A2):c.2469G>A (p.Pro823=)
NM_058174.3(COL6A2):c.2520G>T (p.Pro840=)
NM_058174.3(COL6A2):c.2550G>C (p.Leu850=)
NM_058174.3(COL6A2):c.2616C>T (p.Ala872=)
NM_058174.3(COL6A2):c.2631C>T (p.Thr877=)
NM_058174.3(COL6A2):c.2659del (p.Gly886_Val887insTer)
Single allele

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