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_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_001849.4(COL6A2):c.1332+26A>G
|
rs3737362
|
0.82158
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_001849.4(COL6A2):c.1771-25A>G
|
rs2839113
|
0.81072
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
NM_001849.4(COL6A2):c.2462-35C>T
|
rs7279622
|
0.54180
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_001849.4(COL6A2):c.1116+32G>A
|
rs7279347
|
0.49217
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001849.4(COL6A2):c.928-19C>T
|
rs762438
|
0.45414
|
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)
|
rs13046639
|
0.44460
|
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)
|
rs13052956
|
0.44458
|
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
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_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)
|
rs2645774
|
0.23421
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
NM_004369.4(COL6A3):c.7092+26G>A
|
rs2270656
|
0.19247
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)
|
rs13051496
|
0.15479
|
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)
|
rs2291795
|
0.12954
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10531
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)
|
rs73998894
|
0.00603
|
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)
|
rs149172490
|
0.00540
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.6592-16A>T
|
rs181698279
|
0.00026
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)
|
rs201188174
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00019
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
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_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)
|
rs777172978
|
0.00006
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
|
rs201227573
|
0.00004
|
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)
|
rs727502829
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)
|
rs769072338
|
0.00004
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
|
rs200167715
|
0.00002
|
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)
|
rs532656197
|
0.00002
|
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)
|
rs541703064
|
0.00002
|
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)
|
rs781675126
|
0.00002
|
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)
|
rs755589190
|
0.00001
|
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)
|
rs751124572
|
0.00001
|
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr)
|
rs2077865867
|
0.00001
|
NM_001848.3(COL6A1):c.717+1G>A
|
rs113969925
|
0.00001
|
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp)
|
rs1031520613
|
0.00001
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)
|
rs1051148162
|
0.00001
|
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg)
|
rs779867653
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)
|
rs1321693848
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)
|
rs1370564126
|
0.00001
|
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)
|
rs371505180
|
0.00001
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
|
|
|
NM_001848.3(COL6A1):c.1002+6_1002+88del
|
rs1556425727
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1465del (p.Ala489fs)
|
rs797044458
|
|
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)
|
rs1569518677
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)
|
rs1569518771
|
|
NM_001848.3(COL6A1):c.1769G>A (p.Gly590Glu)
|
|
|
NM_001848.3(COL6A1):c.1813+2_1813+3del
|
rs2077836463
|
|
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)
|
rs1439633596
|
|
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter)
|
rs121912937
|
|
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr)
|
rs2077848878
|
|
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
|
|
|
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)
|
rs2077858751
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)
|
rs2077865473
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
|
rs1471465037
|
|
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys)
|
rs1569517943
|
|
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)
|
rs267606746
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.857del (p.Pro286fs)
|
rs797044457
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001849.4(COL6A2):c.-27-3C>G
|
rs1288520983
|
|
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs)
|
rs2123612919
|
|
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
|
|
|
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)
|
rs199929757
|
|
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)
|
rs986393872
|
|
NM_001849.4(COL6A2):c.1179+1G>T
|
|
|
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.148G>A (p.Val50Met)
|
rs727502826
|
|
NM_001849.4(COL6A2):c.1672-24C>G
|
rs3746995
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)
|
rs886039905
|
|
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)
|
rs1568940242
|
|
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
|
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val)
|
|
|
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp)
|
rs2123454544
|
|
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)
|
rs746930351
|
|
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001849.4(COL6A2):c.928-2A>G
|
rs1440070681
|
|
NM_001849.4(COL6A2):c.955-2A>C
|
rs1555873084
|
|
NM_001849.4(COL6A2):c.955-3C>G
|
rs1208931749
|
|
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser)
|
rs2106370324
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val)
|
rs2078397283
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly)
|
rs1480888719
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)
|
rs754840728
|
|
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
|
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)
|
rs2106349155
|
|
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)
|
rs113332380
|
|
NM_004369.4(COL6A3):c.6157-1G>A
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
|
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
NM_004369.4(COL6A3):c.6283-2A>C
|
rs797044988
|
|
NM_004369.4(COL6A3):c.6283-2A>G
|
rs797044988
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+3A>G
|
rs1553553327
|
|
NM_004369.4(COL6A3):c.6310-2A>G
|
rs1559225993
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
|
|
|
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7669-2del
|
rs764193290
|
|
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)
|
rs2106319784
|
|
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)
|
rs2106317762
|
|
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
|
|
|
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
|
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
NM_004370.6(COL12A1):c.8319+1G>C
|
rs1768416586
|
|