|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.85505
|
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11767
|
|
NM_001849.4(COL6A2):c.1735-30A>G
|
rs73382466
|
0.09173
|
|
NM_001849.4(COL6A2):c.*116T>C
|
rs3087667
|
0.08255
|
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
|
NM_001849.4(COL6A2):c.1970-23G>C
|
rs78764604
|
0.05599
|
|
NM_001849.4(COL6A2):c.*61G>A
|
rs1043801
|
0.05523
|
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03502
|
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03177
|
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
|
NM_001849.4(COL6A2):c.116-34G>A
|
rs117154313
|
0.02024
|
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02006
|
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
|
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)
|
rs1042930
|
0.01149
|
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00931
|
|
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.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00652
|
|
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
|
0.00515
|
|
NM_001849.4(COL6A2):c.1116+22C>T
|
rs111592472
|
0.00341
|
|
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=)
|
rs114554195
|
0.00324
|
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00318
|
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
|
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)
|
rs115957676
|
0.00280
|
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00228
|
|
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.1614C>T (p.Gly538=)
|
rs147194375
|
0.00185
|
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
|
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile)
|
rs117668143
|
0.00127
|
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00115
|
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00113
|
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
|
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.115+6del
|
rs578127995
|
0.00098
|
|
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.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00078
|
|
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=)
|
rs373274913
|
0.00078
|
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00070
|
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00064
|
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00049
|
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
|
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)
|
rs190664941
|
0.00045
|
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
|
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.2658C>T (p.Gly886=)
|
rs143168888
|
0.00031
|
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
|
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)
|
rs139399166
|
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.2517C>T (p.Asp839=)
|
rs113002150
|
0.00027
|
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00026
|
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00025
|
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00025
|
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00024
|
|
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.84G>A (p.Pro28=)
|
rs140890046
|
0.00024
|
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
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.942C>T (p.Ala314=)
|
rs531713008
|
0.00016
|
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00015
|
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00013
|
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
|
NM_001849.4(COL6A2):c.2748C>T (p.His916=)
|
rs372206114
|
0.00012
|
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00011
|
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
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.116-6C>T
|
rs761805565
|
0.00009
|
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
|
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)
|
rs373813975
|
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.999+10G>T
|
rs376378709
|
0.00009
|
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00007
|
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
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.1097G>A (p.Arg366Gln)
|
rs368588676
|
0.00006
|
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
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.2917G>A (p.Val973Met)
|
rs145959270
|
0.00006
|
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
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.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00004
|
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
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.612C>T (p.Ile204=)
|
rs773143298
|
0.00003
|
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00002
|
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
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.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
|
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)
|
rs886038496
|
0.00001
|
|
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)
|
rs398123649
|
0.00001
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
0.00001
|
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00001
|
|
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)
|
rs2078408746
|
0.00001
|
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
|
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser)
|
rs762882543
|
0.00001
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
|
NM_001849.4(COL6A2):c.*119A>G
|
rs1043962
|
|
|
NM_001849.4(COL6A2):c.1117-9C>T
|
rs1057523383
|
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
|
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)
|
rs886043225
|
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
|
NM_001849.4(COL6A2):c.1817-2A>C
|
rs111697581
|
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
|
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.2192C>T (p.Thr731Met)
|
rs794727419
|
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
|
NM_001849.4(COL6A2):c.2422+7G>T
|
rs773282809
|
|
|
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC
|
rs138363207
|
|
|
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)
|
rs1555877258
|
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
|
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.2871G>A (p.Leu957=)
|
rs548194162
|
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
|
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)
|
rs886044576
|
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
|
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)
|
rs397515333
|
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
|
NM_001849.4(COL6A2):c.901-3C>G
|
rs112317259
|
|
|
Single allele
|
|
|