NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
NM_001848.3(COL6A1):c.2435-36A>C
|
rs201427546
|
0.00078
|
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.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)
|
rs144358858
|
0.00070
|
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)
|
rs142882745
|
0.00065
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
NM_001848.3(COL6A1):c.1273-4T>C
|
rs373909354
|
0.00053
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)
|
rs186775751
|
0.00040
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)
|
rs183994910
|
0.00036
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_001848.3(COL6A1):c.531C>T (p.Asn177=)
|
rs767176038
|
0.00031
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001848.3(COL6A1):c.1003-10C>T
|
rs182440627
|
0.00026
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
NM_001848.3(COL6A1):c.2694G>A (p.Thr898=)
|
rs372931456
|
0.00025
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
NM_001848.3(COL6A1):c.957+6C>T
|
rs374926748
|
0.00025
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_001848.3(COL6A1):c.1233C>T (p.Asp411=)
|
rs140478280
|
0.00022
|
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=)
|
rs148630223
|
0.00021
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
NM_001848.3(COL6A1):c.548G>A (p.Gly183Asp)
|
rs766184155
|
0.00021
|
NM_001848.3(COL6A1):c.958-10C>T
|
rs200508160
|
0.00021
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
NM_001848.3(COL6A1):c.2733C>T (p.Asn911=)
|
rs144585693
|
0.00020
|
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.696C>T (p.Ile232=)
|
rs139148709
|
0.00018
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)
|
rs777671647
|
0.00017
|
NM_001848.3(COL6A1):c.409C>G (p.Leu137Val)
|
rs139648899
|
0.00017
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00016
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
NM_001848.3(COL6A1):c.1957-4A>G
|
rs184484842
|
0.00016
|
NM_001848.3(COL6A1):c.424G>C (p.Val142Leu)
|
rs144282452
|
0.00016
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr)
|
rs751040647
|
0.00015
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)
|
rs562898957
|
0.00014
|
NM_001848.3(COL6A1):c.2349G>T (p.Arg783=)
|
rs373511343
|
0.00014
|
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)
|
rs200959957
|
0.00014
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn)
|
rs575394639
|
0.00013
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=)
|
rs148561616
|
0.00012
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr)
|
rs149392243
|
0.00011
|
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)
|
rs756141940
|
0.00011
|
NM_001848.3(COL6A1):c.624G>A (p.Thr208=)
|
rs573282005
|
0.00011
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00011
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)
|
rs376567898
|
0.00010
|
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)
|
rs370632963
|
0.00010
|
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)
|
rs374685631
|
0.00010
|
NM_001848.3(COL6A1):c.705C>T (p.Ile235=)
|
rs536786554
|
0.00010
|
NM_001848.3(COL6A1):c.931-5C>T
|
rs371841573
|
0.00010
|
NM_001848.3(COL6A1):c.1092C>T (p.Pro364=)
|
rs368088970
|
0.00009
|
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)
|
rs199867193
|
0.00009
|
NM_001848.3(COL6A1):c.609C>T (p.Ile203=)
|
rs369590506
|
0.00009
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001848.3(COL6A1):c.822G>A (p.Pro274=)
|
rs886044503
|
0.00008
|
NM_001848.3(COL6A1):c.974G>A (p.Arg325His)
|
rs1471278793
|
0.00008
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp)
|
rs777378283
|
0.00007
|
NM_001848.3(COL6A1):c.2465-7C>T
|
rs376196793
|
0.00007
|
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn)
|
rs750512162
|
0.00007
|
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
NM_001848.3(COL6A1):c.780G>A (p.Gly260=)
|
rs143396975
|
0.00007
|
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys)
|
rs751779784
|
0.00006
|
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn)
|
rs201935658
|
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.2191C>T (p.Arg731Cys)
|
rs398123635
|
0.00006
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
NM_001848.3(COL6A1):c.261C>T (p.Asn87=)
|
rs770671793
|
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.357G>A (p.Ala119=)
|
rs747037863
|
0.00006
|
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)
|
rs749628937
|
0.00006
|
NM_001848.3(COL6A1):c.789C>T (p.Gly263=)
|
rs148364156
|
0.00006
|
NM_001848.3(COL6A1):c.795C>T (p.Pro265=)
|
rs370641081
|
0.00006
|
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser)
|
rs756467809
|
0.00005
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
NM_001848.3(COL6A1):c.1236+5G>A
|
rs376327142
|
0.00004
|
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)
|
rs760815168
|
0.00004
|
NM_001848.3(COL6A1):c.1554C>T (p.Thr518=)
|
rs9637170
|
0.00004
|
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)
|
rs754384963
|
0.00004
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
NM_001848.3(COL6A1):c.1611+8C>T
|
rs376055208
|
0.00004
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)
|
rs759442615
|
0.00004
|
NM_001848.3(COL6A1):c.1814-8C>T
|
rs777017599
|
0.00004
|
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg)
|
rs763495943
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)
|
rs753759904
|
0.00004
|
NM_001848.3(COL6A1):c.2251-6C>T
|
rs756140988
|
0.00004
|
NM_001848.3(COL6A1):c.2561G>A (p.Arg854His)
|
rs200732314
|
0.00004
|
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=)
|
rs759989949
|
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.2853G>A (p.Thr951=)
|
rs890068806
|
0.00004
|
NM_001848.3(COL6A1):c.2983G>A (p.Asp995Asn)
|
rs138673993
|
0.00004
|
NM_001848.3(COL6A1):c.519G>A (p.Glu173=)
|
rs146071423
|
0.00004
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)
|
rs145473829
|
0.00004
|
NM_001848.3(COL6A1):c.1399-8C>G
|
rs749529856
|
0.00003
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
NM_001848.3(COL6A1):c.1539C>T (p.Pro513=)
|
rs150834054
|
0.00003
|
NM_001848.3(COL6A1):c.1566C>T (p.Pro522=)
|
rs753063150
|
0.00003
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)
|
rs398123634
|
0.00003
|
NM_001848.3(COL6A1):c.2263G>A (p.Gly755Ser)
|
rs770610890
|
0.00003
|
NM_001848.3(COL6A1):c.2468C>T (p.Thr823Met)
|
rs749442445
|
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.2863A>G (p.Ile955Val)
|
rs373070436
|
0.00003
|
NM_001848.3(COL6A1):c.2910C>T (p.Phe970=)
|
rs759623301
|
0.00003
|
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)
|
rs781396484
|
0.00003
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
NM_001848.3(COL6A1):c.434C>G (p.Ser145Cys)
|
rs781164042
|
0.00003
|
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)
|
rs780638665
|
0.00003
|
NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu)
|
rs748153811
|
0.00003
|
NM_001848.3(COL6A1):c.-1C>T
|
rs377142360
|
0.00002
|
NM_001848.3(COL6A1):c.1823-9C>T
|
rs398123633
|
0.00002
|
NM_001848.3(COL6A1):c.1911C>T (p.Phe637=)
|
rs552239546
|
0.00002
|
NM_001848.3(COL6A1):c.2034C>T (p.Ser678=)
|
rs750801808
|
0.00002
|
NM_001848.3(COL6A1):c.226A>C (p.Arg76=)
|
rs886043954
|
0.00002
|
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)
|
rs794727582
|
0.00002
|
NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val)
|
rs766944483
|
0.00002
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn)
|
rs149331149
|
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.2920G>A (p.Val974Met)
|
rs751999785
|
0.00002
|
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile)
|
rs781394145
|
0.00002
|
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met)
|
rs764765574
|
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.556G>C (p.Val186Leu)
|
rs886042409
|
0.00002
|
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val)
|
rs886044481
|
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.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)
|
rs767205402
|
0.00002
|
NM_001848.3(COL6A1):c.790G>A (p.Asp264Asn)
|
rs530969007
|
0.00002
|
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)
|
rs757230924
|
0.00002
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
NM_001848.3(COL6A1):c.859-18T>A
|
rs398123641
|
0.00002
|
NM_001848.3(COL6A1):c.958-9G>A
|
rs375638855
|
0.00002
|
NM_001848.3(COL6A1):c.*8T>G
|
rs886042400
|
0.00001
|
NM_001848.3(COL6A1):c.1164G>A (p.Ser388=)
|
rs756085848
|
0.00001
|
NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg)
|
rs774032338
|
0.00001
|
NM_001848.3(COL6A1):c.1349C>T (p.Pro450Leu)
|
rs759834554
|
0.00001
|
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)
|
rs764235653
|
0.00001
|
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu)
|
rs779748438
|
0.00001
|
NM_001848.3(COL6A1):c.1525-9C>T
|
rs768508076
|
0.00001
|
NM_001848.3(COL6A1):c.1659G>A (p.Gly553=)
|
rs746962599
|
0.00001
|
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)
|
rs763515261
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe)
|
rs368925441
|
0.00001
|
NM_001848.3(COL6A1):c.1830G>T (p.Lys610Asn)
|
rs1355588311
|
0.00001
|
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr)
|
rs200770631
|
0.00001
|
NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr)
|
rs1237092252
|
0.00001
|
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)
|
rs886042572
|
0.00001
|
NM_001848.3(COL6A1):c.2097C>T (p.Gly699=)
|
rs537366421
|
0.00001
|
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met)
|
rs765641686
|
0.00001
|
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln)
|
rs766956281
|
0.00001
|
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)
|
rs755589190
|
0.00001
|
NM_001848.3(COL6A1):c.2190G>A (p.Gly730=)
|
rs777828224
|
0.00001
|
NM_001848.3(COL6A1):c.2309A>G (p.Asn770Ser)
|
rs886042972
|
0.00001
|
NM_001848.3(COL6A1):c.2592G>A (p.Arg864=)
|
rs766279884
|
0.00001
|
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met)
|
rs573185206
|
0.00001
|
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=)
|
rs540554122
|
0.00001
|
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)
|
rs372725624
|
0.00001
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00001
|
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)
|
rs751518356
|
0.00001
|
NM_001848.3(COL6A1):c.366C>T (p.Tyr122=)
|
rs770744511
|
0.00001
|
NM_001848.3(COL6A1):c.434C>T (p.Ser145Phe)
|
rs781164042
|
0.00001
|
NM_001848.3(COL6A1):c.549C>T (p.Gly183=)
|
rs398123636
|
0.00001
|
NM_001848.3(COL6A1):c.588+10G>A
|
rs890926408
|
0.00001
|
NM_001848.3(COL6A1):c.588+12_588+13insA
|
rs398123637
|
0.00001
|
NM_001848.3(COL6A1):c.641C>T (p.Thr214Met)
|
rs369123247
|
0.00001
|
NM_001848.3(COL6A1):c.739-10C>G
|
rs886044087
|
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.957+7G>A
|
rs764488809
|
0.00001
|
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del)
|
rs398123630
|
|
NM_001848.3(COL6A1):c.1056+4A>G
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1056+5G>T
|
rs886044511
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
NM_001848.3(COL6A1):c.1236+2T>G
|
rs1037202843
|
|
NM_001848.3(COL6A1):c.1285G>A (p.Glu429Lys)
|
rs755151758
|
|
NM_001848.3(COL6A1):c.138G>C (p.Glu46Asp)
|
rs886043183
|
|
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=)
|
rs886042955
|
|
NM_001848.3(COL6A1):c.1412C>T (p.Pro471Leu)
|
rs1569518656
|
|
NM_001848.3(COL6A1):c.1461+7C>T
|
rs994516309
|
|
NM_001848.3(COL6A1):c.1461G>C (p.Glu487Asp)
|
rs1474176856
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
|
NM_001848.3(COL6A1):c.1509G>A (p.Gly503=)
|
rs1368309193
|
|
NM_001848.3(COL6A1):c.1532A>G (p.Asp511Gly)
|
rs886044367
|
|
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys)
|
rs200023632
|
|
NM_001848.3(COL6A1):c.1612-5T>A
|
rs371587579
|
|
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys)
|
rs367650141
|
|
NM_001848.3(COL6A1):c.1820G>A (p.Cys607Tyr)
|
rs886042538
|
|
NM_001848.3(COL6A1):c.1823-8G>T
|
rs184666690
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.1906G>A (p.Asp636Asn)
|
rs770002676
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu)
|
rs1260709010
|
|
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=)
|
rs370780432
|
|
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)
|
rs138312247
|
|
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu)
|
rs138312247
|
|
NM_001848.3(COL6A1):c.2151C>T (p.Pro717=)
|
rs886042949
|
|
NM_001848.3(COL6A1):c.2195C>T (p.Ser732Leu)
|
rs1556432119
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)
|
rs886042688
|
|
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)
|
rs886042391
|
|
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu)
|
rs1203093809
|
|
NM_001848.3(COL6A1):c.2413G>A (p.Val805Ile)
|
rs886043403
|
|
NM_001848.3(COL6A1):c.2442G>A (p.Lys814=)
|
rs1569519181
|
|
NM_001848.3(COL6A1):c.247A>G (p.Asn83Asp)
|
rs1556424177
|
|
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro)
|
rs748327110
|
|
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=)
|
rs367832752
|
|
NM_001848.3(COL6A1):c.2595G>C (p.Thr865=)
|
rs367832752
|
|
NM_001848.3(COL6A1):c.2607C>G (p.His869Gln)
|
rs777003143
|
|
NM_001848.3(COL6A1):c.2660A>G (p.Glu887Gly)
|
rs794727581
|
|
NM_001848.3(COL6A1):c.2697C>A (p.Ala899=)
|
rs1569519211
|
|
NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.278A>T (p.Tyr93Phe)
|
rs1569517702
|
|
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del)
|
rs886043457
|
|
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)
|
rs147882179
|
|
NM_001848.3(COL6A1):c.2855C>T (p.Pro952Leu)
|
rs1225019573
|
|
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)
|
rs145811554
|
|
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)
|
rs763228065
|
|
NM_001848.3(COL6A1):c.2914G>A (p.Val972Met)
|
rs1223179643
|
|
NM_001848.3(COL6A1):c.2998G>T (p.Glu1000Ter)
|
rs201456885
|
|
NM_001848.3(COL6A1):c.3009G>A (p.Leu1003=)
|
rs886042992
|
|
NM_001848.3(COL6A1):c.376G>A (p.Gly126Ser)
|
rs886043738
|
|
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val)
|
rs1300015385
|
|
NM_001848.3(COL6A1):c.379A>G (p.Thr127Ala)
|
rs886043850
|
|
NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn)
|
rs1235398371
|
|
NM_001848.3(COL6A1):c.414G>A (p.Glu138=)
|
rs1556424277
|
|
NM_001848.3(COL6A1):c.525T>A (p.Ala175=)
|
rs761552446
|
|
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr)
|
rs1556424938
|
|
NM_001848.3(COL6A1):c.602G>C (p.Ser201Thr)
|
rs868198274
|
|
NM_001848.3(COL6A1):c.646G>T (p.Ala216Ser)
|
rs750465594
|
|
NM_001848.3(COL6A1):c.674A>T (p.Glu225Val)
|
rs886043858
|
|
NM_001848.3(COL6A1):c.738+8C>G
|
rs1556425058
|
|
NM_001848.3(COL6A1):c.739-5C>T
|
rs369946755
|
|
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.829C>T (p.Pro277Ser)
|
rs747542234
|
|
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del)
|
rs1556425474
|
|
NM_001848.3(COL6A1):c.859-22A>G
|
rs398123642
|
|
NM_001848.3(COL6A1):c.903+3_903+7delinsCCTTC
|
rs886044204
|
|
NM_001848.3(COL6A1):c.904-10G>A
|
rs794727027
|
|
NM_001848.3(COL6A1):c.930+10G>A
|
rs772379034
|
|
NM_001848.3(COL6A1):c.931-3C>A
|
rs747284546
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001848.3(COL6A1):c.957+6C>G
|
rs374926748
|
|
NM_001848.3(COL6A1):c.957+7G>C
|
rs764488809
|
|
NM_001848.3(COL6A1):c.957G>A (p.Lys319=)
|
rs1057520625
|
|
NM_001848.3(COL6A1):c.98-3C>G
|
rs1353609979
|
|
NM_001848.3(COL6A1):c.98-6G>A
|
rs886042599
|
|
NM_001848.3(COL6A1):c.9G>T (p.Ala3=)
|
rs369561233
|
|