NM_001848.3(COL6A1):c.1335+27A>C
|
rs2850173
|
0.88231
|
NM_001848.3(COL6A1):c.2434+15A>G
|
rs2236485
|
0.87616
|
NM_001848.3(COL6A1):c.428+14A>G
|
rs3746993
|
0.87078
|
NM_001848.3(COL6A1):c.859-19A>G
|
rs2277814
|
0.86865
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
NM_001848.3(COL6A1):c.1461+18C>A
|
rs2276254
|
0.58488
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_001848.3(COL6A1):c.1956+15C>T
|
rs11701124
|
0.48762
|
NM_001848.3(COL6A1):c.1462-36A>G
|
rs2276255
|
0.35129
|
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
|
rs1053312
|
0.32867
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
NM_001848.3(COL6A1):c.2434+20G>A
|
rs2236486
|
0.31361
|
NM_001848.3(COL6A1):c.1957-11C>T
|
rs8132521
|
0.28523
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)
|
rs13051496
|
0.15479
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=)
|
rs7279254
|
0.02172
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_001848.3(COL6A1):c.1524+15G>A
|
rs116000285
|
0.01582
|
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=)
|
rs80244281
|
0.01378
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
NM_001848.3(COL6A1):c.645G>A (p.Ala215=)
|
rs115292913
|
0.01120
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln)
|
rs35059000
|
0.00775
|
NM_001848.3(COL6A1):c.1612-10G>A
|
rs141892165
|
0.00714
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_001848.3(COL6A1):c.1182+20C>T
|
rs7275706
|
0.00705
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
NM_001848.3(COL6A1):c.739-18C>T
|
rs144843800
|
0.00561
|
NM_001848.3(COL6A1):c.777G>A (p.Pro259=)
|
rs61735854
|
0.00491
|
NM_001848.3(COL6A1):c.579C>T (p.Pro193=)
|
rs61751027
|
0.00488
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)
|
rs151158105
|
0.00200
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
NM_001848.3(COL6A1):c.1336-15C>T
|
rs201003020
|
0.00174
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
|
rs143695871
|
0.00132
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)
|
rs141620374
|
0.00110
|
NM_001848.3(COL6A1):c.1336-17G>A
|
rs185337381
|
0.00103
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00076
|
NM_001848.3(COL6A1):c.1776+13C>T
|
rs201734661
|
0.00025
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala)
|
rs140735590
|
0.00019
|
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)
|
rs368307185
|
0.00018
|
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)
|
rs777671647
|
0.00017
|
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val)
|
rs117340427
|
0.00016
|
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp)
|
rs146622557
|
0.00014
|
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)
|
rs562898957
|
0.00014
|
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)
|
rs190043330
|
0.00014
|
NM_001848.3(COL6A1):c.2435-18G>A
|
rs550691133
|
0.00011
|
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)
|
rs371763977
|
0.00011
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)
|
rs370632963
|
0.00010
|
NM_001848.3(COL6A1):c.227+15C>T
|
rs199730779
|
0.00009
|
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)
|
rs377586358
|
0.00009
|
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)
|
rs199867193
|
0.00009
|
NM_001848.3(COL6A1):c.894G>A (p.Gln298=)
|
rs371989252
|
0.00009
|
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)
|
rs764762208
|
0.00007
|
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp)
|
rs777378283
|
0.00007
|
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp)
|
rs755375448
|
0.00006
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)
|
rs189623561
|
0.00006
|
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)
|
rs758242849
|
0.00006
|
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met)
|
rs373383488
|
0.00006
|
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)
|
rs537763400
|
0.00006
|
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)
|
rs746298580
|
0.00006
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00006
|
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val)
|
rs571641824
|
0.00006
|
NM_001848.3(COL6A1):c.789C>T (p.Gly263=)
|
rs148364156
|
0.00006
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser)
|
rs756467809
|
0.00005
|
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=)
|
rs773470822
|
0.00005
|
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)
|
rs376807461
|
0.00004
|
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)
|
rs760815168
|
0.00004
|
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)
|
rs754384963
|
0.00004
|
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys)
|
rs552634753
|
0.00004
|
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)
|
rs759442615
|
0.00004
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)
|
rs753759904
|
0.00004
|
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)
|
rs771987341
|
0.00004
|
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys)
|
rs145846228
|
0.00004
|
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)
|
rs147716407
|
0.00004
|
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys)
|
rs780139552
|
0.00004
|
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys)
|
rs376764211
|
0.00004
|
NM_001848.3(COL6A1):c.510G>A (p.Gly170=)
|
rs373970248
|
0.00004
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
|
rs757791812
|
0.00004
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)
|
rs398123634
|
0.00003
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val)
|
rs748997622
|
0.00003
|
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
|
rs142881632
|
0.00003
|
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser)
|
rs566453317
|
0.00003
|
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys)
|
rs886043011
|
0.00003
|
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr)
|
rs771844518
|
0.00003
|
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)
|
rs746877994
|
0.00003
|
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)
|
rs781396484
|
0.00003
|
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu)
|
rs763049658
|
0.00003
|
NM_001848.3(COL6A1):c.378C>T (p.Gly126=)
|
rs776619127
|
0.00003
|
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)
|
rs780638665
|
0.00003
|
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)
|
rs775946362
|
0.00003
|
NM_001848.3(COL6A1):c.706G>A (p.Val236Met)
|
rs145269003
|
0.00003
|
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile)
|
rs564072783
|
0.00002
|
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
|
rs774361880
|
0.00002
|
NM_001848.3(COL6A1):c.2347C>T (p.Arg783Trp)
|
rs779362329
|
0.00002
|
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp)
|
rs767361934
|
0.00002
|
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)
|
rs143925936
|
0.00002
|
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)
|
rs570688674
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr)
|
rs766416007
|
0.00002
|
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)
|
rs375007666
|
0.00002
|
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys)
|
rs376061269
|
0.00002
|
NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val)
|
rs758399765
|
0.00002
|
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile)
|
rs781394145
|
0.00002
|
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
|
rs369764291
|
0.00002
|
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)
|
rs368580280
|
0.00002
|
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)
|
rs747665716
|
0.00002
|
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg)
|
rs754667407
|
0.00002
|
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)
|
rs372199631
|
0.00002
|
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)
|
rs950115468
|
0.00002
|
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)
|
rs767205402
|
0.00002
|
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu)
|
rs746386684
|
0.00001
|
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)
|
rs765826390
|
0.00001
|
NM_001848.3(COL6A1):c.1330G>A (p.Asp444Asn)
|
rs778234022
|
0.00001
|
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)
|
rs764235653
|
0.00001
|
NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys)
|
rs1467389704
|
0.00001
|
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln)
|
rs776914710
|
0.00001
|
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)
|
rs140517685
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser)
|
rs760265069
|
0.00001
|
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr)
|
rs200770631
|
0.00001
|
NM_001848.3(COL6A1):c.1912G>A (p.Val638Ile)
|
rs749790625
|
0.00001
|
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met)
|
rs765641686
|
0.00001
|
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)
|
rs774657642
|
0.00001
|
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser)
|
rs370546340
|
0.00001
|
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)
|
rs762499313
|
0.00001
|
NM_001848.3(COL6A1):c.2608G>A (p.Asp870Asn)
|
rs746305862
|
0.00001
|
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met)
|
rs573185206
|
0.00001
|
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys)
|
rs779199061
|
0.00001
|
NM_001848.3(COL6A1):c.2784C>T (p.Arg928=)
|
rs775569169
|
0.00001
|
NM_001848.3(COL6A1):c.2792C>T (p.Ser931Leu)
|
rs768598525
|
0.00001
|
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)
|
rs767414809
|
0.00001
|
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
|
rs759880017
|
0.00001
|
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
|
rs749929221
|
0.00001
|
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)
|
rs1343618467
|
0.00001
|
NM_001848.3(COL6A1):c.615G>A (p.Thr205=)
|
rs192125814
|
0.00001
|
NM_001848.3(COL6A1):c.621C>A (p.His207Gln)
|
rs866987981
|
0.00001
|
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val)
|
rs1177728735
|
0.00001
|
NM_001848.3(COL6A1):c.664C>T (p.Arg222Cys)
|
rs560001473
|
0.00001
|
NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr)
|
rs569642530
|
0.00001
|
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val)
|
rs770597799
|
0.00001
|
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu)
|
rs767905829
|
0.00001
|
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)
|
rs752259110
|
0.00001
|
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
|
rs1482699064
|
0.00001
|
NM_001848.3(COL6A1):c.920G>A (p.Arg307His)
|
rs145838277
|
0.00001
|
NM_001848.3(COL6A1):c.1002+21_1002+40dup
|
|
|
NM_001848.3(COL6A1):c.1003-15del
|
rs769487412
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1120-13del
|
rs766658998
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
|
|
|
NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)
|
|
|
NM_001848.3(COL6A1):c.1446T>C (p.Gly482=)
|
|
|
NM_001848.3(COL6A1):c.1447C>T (p.Pro483Ser)
|
rs756017426
|
|
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=)
|
rs139987124
|
|
NM_001848.3(COL6A1):c.1524+19G>C
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
|
|
|
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
|
|
|
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
|
|
|
NM_001848.3(COL6A1):c.1740+17G>A
|
rs200299050
|
|
NM_001848.3(COL6A1):c.1740+18G>T
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1823-13C>T
|
rs571173076
|
|
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
|
|
|
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=)
|
rs375448277
|
|
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
|
rs771702139
|
|
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)
|
rs138312247
|
|
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
|
|
|
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
|
|
|
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
|
|
|
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
|
|
|
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
|
|
|
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
|
|
|
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC
|
rs1569519143
|
|
NM_001848.3(COL6A1):c.2434+15_2434+54del
|
rs1064795349
|
|
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
|
|
|
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
|
|
|
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
|
|
|
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
|
|
|
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
|
|
|
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
|
|
|
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)
|
rs544927344
|
|
NM_001848.3(COL6A1):c.2654G>A (p.Arg885His)
|
|
|
NM_001848.3(COL6A1):c.2659G>A (p.Glu887Lys)
|
|
|
NM_001848.3(COL6A1):c.2663G>A (p.Arg888Gln)
|
rs138351067
|
|
NM_001848.3(COL6A1):c.2663G>C (p.Arg888Pro)
|
rs138351067
|
|
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
|
|
|
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
|
|
|
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn)
|
rs757422397
|
|
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
|
|
|
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly)
|
rs755340450
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
|
|
|
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
|
|
|
NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)
|
|
|
NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)
|
|
|
NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)
|
|
|
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser)
|
rs150378645
|
|
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)
|
rs145811554
|
|
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
|
|
|
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
|
rs138652066
|
|
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)
|
rs376999117
|
|
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
|
|
|
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu)
|
rs754591267
|
|
NM_001848.3(COL6A1):c.316A>G (p.Met106Val)
|
rs1365404018
|
|
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
|
|
|
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn)
|
rs372627181
|
|
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
|
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
|
|
|
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
|
|
|
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
|
|
|
NM_001848.3(COL6A1):c.588+18_588+19dup
|
rs111710378
|
|
NM_001848.3(COL6A1):c.588+19del
|
rs111710378
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
|
|
|
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
|
|
|
NM_001848.3(COL6A1):c.738+24del
|
|
|
NM_001848.3(COL6A1):c.739-11del
|
rs573196191
|
|
NM_001848.3(COL6A1):c.759+15del
|
|
|
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro)
|
rs145473829
|
|
NM_001848.3(COL6A1):c.903+13C>A
|
rs199632006
|
|
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
|
|
|