NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
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_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_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.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=)
|
rs34904623
|
0.03265
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
NM_004369.4(COL6A3):c.1313-17A>G
|
rs7579816
|
0.02624
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.02035
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=)
|
rs34367758
|
0.01387
|
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)
|
rs35489467
|
0.01378
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_004369.4(COL6A3):c.768C>T (p.Val256=)
|
rs79606264
|
0.01148
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)
|
rs76576170
|
0.00714
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)
|
rs73998894
|
0.00603
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=)
|
rs35556524
|
0.00550
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)
|
rs79313758
|
0.00483
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=)
|
rs112815265
|
0.00444
|
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.9069C>T (p.Thr3023=)
|
rs111234422
|
0.00431
|
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu)
|
rs112928650
|
0.00421
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_004369.4(COL6A3):c.709+11C>T
|
rs111660070
|
0.00395
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=)
|
rs113074898
|
0.00392
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile)
|
rs111859552
|
0.00388
|
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=)
|
rs112382351
|
0.00388
|
NM_004369.4(COL6A3):c.6211-3C>T
|
rs139622600
|
0.00387
|
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=)
|
rs113961575
|
0.00363
|
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=)
|
rs112040282
|
0.00360
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)
|
rs113542401
|
0.00272
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)
|
rs113781746
|
0.00178
|
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=)
|
rs34978064
|
0.00147
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
NM_004369.4(COL6A3):c.91+11G>C
|
rs372744024
|
0.00089
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser)
|
rs76646066
|
0.00057
|
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu)
|
rs74425496
|
0.00054
|
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=)
|
rs150219857
|
0.00039
|
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg)
|
rs2270668
|
0.00039
|
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=)
|
rs151234107
|
0.00033
|
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)
|
rs114596320
|
0.00032
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)
|
rs370397767
|
0.00029
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
NM_004369.4(COL6A3):c.6592-16A>T
|
rs181698279
|
0.00026
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_004369.4(COL6A3):c.3680-4G>A
|
rs376123972
|
0.00024
|
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)
|
rs142002241
|
0.00024
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)
|
rs374134397
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=)
|
rs115155458
|
0.00019
|
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)
|
rs115757876
|
0.00017
|
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)
|
rs61729841
|
0.00014
|
NM_004369.4(COL6A3):c.289C>T (p.Arg97Cys)
|
rs144651558
|
0.00013
|
NM_004369.4(COL6A3):c.6064-6C>T
|
rs202091342
|
0.00013
|
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln)
|
rs369317566
|
0.00013
|
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)
|
rs370246962
|
0.00013
|
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)
|
rs144501019
|
0.00012
|
NM_004369.4(COL6A3):c.2497+19C>T
|
rs141966456
|
0.00012
|
NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr)
|
rs143459232
|
0.00012
|
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)
|
rs376780810
|
0.00011
|
NM_004369.4(COL6A3):c.5838+12C>A
|
rs117734465
|
0.00010
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)
|
rs780115806
|
0.00009
|
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=)
|
rs145048734
|
0.00009
|
NM_004369.4(COL6A3):c.414C>T (p.Ala138=)
|
rs148996231
|
0.00009
|
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn)
|
rs778940391
|
0.00009
|
NM_004369.4(COL6A3):c.7611G>T (p.Gly2537=)
|
rs145868338
|
0.00009
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
0.00009
|
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys)
|
rs371006546
|
0.00009
|
NM_004369.4(COL6A3):c.91+15C>T
|
rs117521066
|
0.00009
|
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)
|
rs375022162
|
0.00008
|
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile)
|
rs137910388
|
0.00008
|
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
|
rs372247515
|
0.00008
|
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
|
rs531282669
|
0.00007
|
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val)
|
rs115839474
|
0.00007
|
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu)
|
rs547651808
|
0.00006
|
NM_004369.4(COL6A3):c.1313-7C>T
|
rs764201905
|
0.00006
|
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly)
|
rs928706699
|
0.00006
|
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys)
|
rs200722892
|
0.00006
|
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr)
|
rs754847515
|
0.00006
|
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp)
|
rs113755498
|
0.00006
|
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr)
|
rs767499336
|
0.00006
|
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala)
|
rs774606469
|
0.00006
|
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His)
|
rs148613877
|
0.00006
|
NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr)
|
rs375613015
|
0.00006
|
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val)
|
rs114806654
|
0.00006
|
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)
|
rs367635298
|
0.00006
|
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser)
|
rs200592625
|
0.00005
|
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met)
|
rs144878757
|
0.00005
|
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile)
|
rs773631759
|
0.00005
|
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln)
|
rs760717002
|
0.00005
|
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)
|
rs777454204
|
0.00005
|
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=)
|
rs766367190
|
0.00004
|
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His)
|
rs764614021
|
0.00004
|
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu)
|
rs138281601
|
0.00004
|
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala)
|
rs766458324
|
0.00004
|
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=)
|
rs200562443
|
0.00004
|
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=)
|
rs201942049
|
0.00004
|
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg)
|
rs141754714
|
0.00004
|
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=)
|
rs747802067
|
0.00004
|
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)
|
rs1156524068
|
0.00004
|
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)
|
rs781624176
|
0.00004
|
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)
|
rs200478135
|
0.00004
|
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln)
|
rs376715966
|
0.00004
|
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)
|
rs373680762
|
0.00004
|
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met)
|
rs770436761
|
0.00004
|
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His)
|
rs753651742
|
0.00003
|
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn)
|
rs544229002
|
0.00003
|
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala)
|
rs747449879
|
0.00003
|
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu)
|
rs752785838
|
0.00003
|
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)
|
rs778288464
|
0.00003
|
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)
|
rs375640580
|
0.00003
|
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu)
|
rs754480145
|
0.00003
|
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)
|
rs763395740
|
0.00003
|
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile)
|
rs569907876
|
0.00003
|
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val)
|
rs751532649
|
0.00003
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys)
|
rs147546808
|
0.00002
|
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)
|
rs751952844
|
0.00002
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile)
|
rs202122047
|
0.00002
|
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)
|
rs576798969
|
0.00002
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val)
|
rs376501805
|
0.00002
|
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)
|
rs772077690
|
0.00002
|
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)
|
rs536607503
|
0.00002
|
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu)
|
rs758774990
|
0.00002
|
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp)
|
rs200720222
|
0.00001
|
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=)
|
rs574912582
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
0.00001
|
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)
|
rs373915980
|
0.00001
|
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val)
|
rs570869775
|
0.00001
|
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met)
|
rs201147199
|
0.00001
|
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His)
|
rs201313985
|
0.00001
|
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg)
|
rs532433812
|
0.00001
|
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp)
|
rs751115326
|
0.00001
|
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr)
|
rs749100905
|
0.00001
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu)
|
rs112178393
|
0.00001
|
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=)
|
rs199519571
|
0.00001
|
NM_004369.4(COL6A3):c.9032G>T (p.Arg3011Met)
|
rs757374995
|
0.00001
|
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser)
|
rs529079748
|
0.00001
|
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)
|
rs376939353
|
0.00001
|
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys)
|
|
|
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn)
|
rs35914491
|
|
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=)
|
|
|
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=)
|
|
|
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu)
|
|
|
NM_004369.4(COL6A3):c.1898-17dup
|
rs750049890
|
|
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln)
|
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
|
|
|
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
|
rs543253703
|
|
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=)
|
rs769667715
|
|
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=)
|
|
|
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=)
|
|
|
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp)
|
rs140330124
|
|
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=)
|
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)
|
|
|
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)
|
rs371631320
|
|
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser)
|
|
|
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys)
|
rs143389941
|
|
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
|
|
|
NM_004369.4(COL6A3):c.6063+12_6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.6063+13dup
|
rs11385011
|
|
NM_004369.4(COL6A3):c.6931-10dup
|
rs2106328779
|
|
NM_004369.4(COL6A3):c.7093-5dup
|
rs751423264
|
|
NM_004369.4(COL6A3):c.710-20dup
|
rs759721812
|
|
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=)
|
|
|
NM_004369.4(COL6A3):c.7163-5del
|
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
|
|
|
NM_004369.4(COL6A3):c.8465-7del
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8465-7dup
|
rs111494366
|
|
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)
|
rs36104025
|
|
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2])
|
rs746284792
|
|
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8966-19G>T
|
rs182520636
|
|
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)
|
|
|
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly)
|
rs565996170
|
|
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr)
|
rs767249760
|
|
NM_004369.4(COL6A3):c.92-5dup
|
rs1476890625
|
|
NM_004369.4(COL6A3):c.92-6_92-5del
|
rs1476890625
|
|
NM_004369.4(COL6A3):c.927G>A (p.Val309=)
|
|
|