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.1182+3G>A
|
rs62215499
|
0.00310
|
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.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
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.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=)
|
rs146662894
|
0.00112
|
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.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
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.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.984C>T (p.Asp328=)
|
rs781038607
|
0.00072
|
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)
|
rs144358858
|
0.00070
|
NM_001848.3(COL6A1):c.981C>T (p.Ile327=)
|
rs138401567
|
0.00068
|
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.1525-18G>A
|
rs112502822
|
0.00054
|
NM_001848.3(COL6A1):c.1273-4T>C
|
rs373909354
|
0.00053
|
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
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.3002G>A (p.Ser1001Asn)
|
rs756372387
|
0.00044
|
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)
|
rs186775751
|
0.00040
|
NM_001848.3(COL6A1):c.1776+11C>T
|
rs376317834
|
0.00038
|
NM_001848.3(COL6A1):c.2464+11C>T
|
rs202074876
|
0.00038
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
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.1675-16C>T
|
rs200659458
|
0.00033
|
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.2067-6A>G
|
rs113876477
|
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.1378G>A (p.Val460Ile)
|
rs375452881
|
0.00027
|
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.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
NM_001848.3(COL6A1):c.1776+13C>T
|
rs201734661
|
0.00025
|
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.2464+19G>A
|
rs200297915
|
0.00023
|
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.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.1611C>T (p.Asn537=)
|
rs200023632
|
0.00019
|
NM_001848.3(COL6A1):c.759+16G>A
|
rs373366336
|
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.3034C>T (p.Leu1012=)
|
rs150509473
|
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.1475C>T (p.Ala492Val)
|
rs117340427
|
0.00016
|
NM_001848.3(COL6A1):c.1680C>T (p.Asn560=)
|
rs147210734
|
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.717+9C>T
|
rs183868804
|
0.00016
|
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr)
|
rs751040647
|
0.00015
|
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met)
|
rs371111712
|
0.00015
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
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.2349G>T (p.Arg783=)
|
rs373511343
|
0.00014
|
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)
|
rs200959957
|
0.00014
|
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)
|
rs190043330
|
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.594G>A (p.Pro198=)
|
rs376592866
|
0.00013
|
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)
|
rs377455608
|
0.00012
|
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=)
|
rs148561616
|
0.00012
|
NM_001848.3(COL6A1):c.1462-19G>A
|
rs191393017
|
0.00011
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
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.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.2994C>T (p.Tyr998=)
|
rs148405880
|
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.1399-14C>G
|
rs374784450
|
0.00009
|
NM_001848.3(COL6A1):c.227+11C>T
|
rs371425947
|
0.00009
|
NM_001848.3(COL6A1):c.227+15C>T
|
rs199730779
|
0.00009
|
NM_001848.3(COL6A1):c.2352C>T (p.Pro784=)
|
rs377558756
|
0.00009
|
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=)
|
rs771446601
|
0.00009
|
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)
|
rs377586358
|
0.00009
|
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)
|
rs370889024
|
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.894G>A (p.Gln298=)
|
rs371989252
|
0.00009
|
NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn)
|
rs756884829
|
0.00008
|
NM_001848.3(COL6A1):c.1777-3C>T
|
rs111263341
|
0.00008
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001848.3(COL6A1):c.474C>T (p.Asp158=)
|
rs773280332
|
0.00008
|
NM_001848.3(COL6A1):c.589-13A>G
|
rs201695574
|
0.00008
|
NM_001848.3(COL6A1):c.69G>A (p.Pro23=)
|
rs149741299
|
0.00008
|
NM_001848.3(COL6A1):c.822G>A (p.Pro274=)
|
rs886044503
|
0.00008
|
NM_001848.3(COL6A1):c.1612-5T>C
|
rs371587579
|
0.00007
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
NM_001848.3(COL6A1):c.1777-16G>A
|
rs199838622
|
0.00007
|
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.2465-7C>T
|
rs376196793
|
0.00007
|
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn)
|
rs750512162
|
0.00007
|
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)
|
rs568865339
|
0.00007
|
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
NM_001848.3(COL6A1):c.759+20C>T
|
rs555848716
|
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.1315C>T (p.Arg439Trp)
|
rs368239109
|
0.00006
|
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=)
|
rs750717663
|
0.00006
|
NM_001848.3(COL6A1):c.1462-8C>T
|
rs199849694
|
0.00006
|
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn)
|
rs201935658
|
0.00006
|
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp)
|
rs755375448
|
0.00006
|
NM_001848.3(COL6A1):c.1611+20C>T
|
rs369940697
|
0.00006
|
NM_001848.3(COL6A1):c.1740+13G>T
|
rs758377899
|
0.00006
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
NM_001848.3(COL6A1):c.1854C>T (p.Phe618=)
|
rs372069776
|
0.00006
|
NM_001848.3(COL6A1):c.1855G>A (p.Val619Met)
|
rs150938324
|
0.00006
|
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)
|
rs189623561
|
0.00006
|
NM_001848.3(COL6A1):c.2157G>A (p.Pro719=)
|
rs377152990
|
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.2275G>A (p.Val759Met)
|
rs373383488
|
0.00006
|
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln)
|
rs200261890
|
0.00006
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
NM_001848.3(COL6A1):c.2434+19G>A
|
rs571644858
|
0.00006
|
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)
|
rs537763400
|
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.2745C>T (p.Asp915=)
|
rs751865624
|
0.00006
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00006
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_001848.3(COL6A1):c.2919C>T (p.Val973=)
|
rs764490258
|
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.588+19C>T
|
rs775893001
|
0.00006
|
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)
|
rs749628937
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001848.3(COL6A1):c.739-5C>G
|
rs369946755
|
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.924G>C (p.Gly308=)
|
rs374654116
|
0.00006
|
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=)
|
rs182068143
|
0.00005
|
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.2343G>A (p.Gln781=)
|
rs755487987
|
0.00005
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=)
|
rs773470822
|
0.00005
|
NM_001848.3(COL6A1):c.429-20C>T
|
rs779947824
|
0.00005
|
NM_001848.3(COL6A1):c.669C>T (p.Asp223=)
|
rs552000247
|
0.00005
|
NM_001848.3(COL6A1):c.985G>A (p.Gly329Arg)
|
rs200835287
|
0.00005
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
NM_001848.3(COL6A1):c.1119+13C>T
|
rs199655304
|
0.00004
|
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=)
|
rs148492687
|
0.00004
|
NM_001848.3(COL6A1):c.1236+5G>A
|
rs376327142
|
0.00004
|
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln)
|
rs761729281
|
0.00004
|
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)
|
rs376807461
|
0.00004
|
NM_001848.3(COL6A1):c.1336-12G>A
|
rs746917431
|
0.00004
|
NM_001848.3(COL6A1):c.1336-18C>T
|
rs201516559
|
0.00004
|
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu)
|
rs746962124
|
0.00004
|
NM_001848.3(COL6A1):c.1458C>T (p.Ser486=)
|
rs377137616
|
0.00004
|
NM_001848.3(COL6A1):c.1461+4A>G
|
rs201372759
|
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.1672G>A (p.Asp558Asn)
|
rs1372696070
|
0.00004
|
NM_001848.3(COL6A1):c.1675-15G>A
|
rs763344899
|
0.00004
|
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
|
rs201227573
|
0.00004
|
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys)
|
rs552634753
|
0.00004
|
NM_001848.3(COL6A1):c.1741-13G>A
|
rs201063714
|
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.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_001848.3(COL6A1):c.1957-17C>T
|
rs370007363
|
0.00004
|
NM_001848.3(COL6A1):c.2080C>T (p.Leu694=)
|
rs1336464401
|
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.228-17G>A
|
rs528620355
|
0.00004
|
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=)
|
rs772673965
|
0.00004
|
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)
|
rs771987341
|
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.2982C>T (p.Tyr994=)
|
rs369948305
|
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.329G>A (p.Arg110His)
|
rs773139115
|
0.00004
|
NM_001848.3(COL6A1):c.510G>A (p.Gly170=)
|
rs373970248
|
0.00004
|
NM_001848.3(COL6A1):c.519G>A (p.Glu173=)
|
rs146071423
|
0.00004
|
NM_001848.3(COL6A1):c.588+9C>T
|
rs776935888
|
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.785G>A (p.Arg262Gln)
|
rs757791812
|
0.00004
|
NM_001848.3(COL6A1):c.903+4C>T
|
rs200380846
|
0.00004
|
NM_001848.3(COL6A1):c.931-18C>T
|
rs755738565
|
0.00004
|
NM_001848.3(COL6A1):c.96G>A (p.Gln32=)
|
rs754988212
|
0.00004
|
NM_001848.3(COL6A1):c.1059C>T (p.Gly353=)
|
rs371231107
|
0.00003
|
NM_001848.3(COL6A1):c.1093G>A (p.Gly365Ser)
|
rs558291025
|
0.00003
|
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)
|
rs765631918
|
0.00003
|
NM_001848.3(COL6A1):c.1272+11C>T
|
rs371785147
|
0.00003
|
NM_001848.3(COL6A1):c.1362G>A (p.Gln454=)
|
rs762392600
|
0.00003
|
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.1521A>G (p.Glu507=)
|
rs781233511
|
0.00003
|
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)
|
rs201153092
|
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.1647G>A (p.Glu549=)
|
rs532756899
|
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.1957-10G>A
|
rs761863286
|
0.00003
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe)
|
rs752045107
|
0.00003
|
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val)
|
rs748997622
|
0.00003
|
NM_001848.3(COL6A1):c.2019C>T (p.His673=)
|
rs141424786
|
0.00003
|
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
|
rs142881632
|
0.00003
|
NM_001848.3(COL6A1):c.2251-20G>A
|
rs369894106
|
0.00003
|
NM_001848.3(COL6A1):c.2289C>A (p.Ile763=)
|
rs751446262
|
0.00003
|
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)
|
rs529770550
|
0.00003
|
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser)
|
rs566453317
|
0.00003
|
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val)
|
rs565089447
|
0.00003
|
NM_001848.3(COL6A1):c.262G>A (p.Ala88Thr)
|
rs540429266
|
0.00003
|
NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn)
|
rs763910773
|
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.2950C>T (p.Arg984Cys)
|
rs568039462
|
0.00003
|
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)
|
rs746877994
|
0.00003
|
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)
|
rs763470078
|
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.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
NM_001848.3(COL6A1):c.471C>T (p.Thr157=)
|
rs376650683
|
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.750C>A (p.Phe250Leu)
|
rs748153811
|
0.00003
|
NM_001848.3(COL6A1):c.759+13C>T
|
rs1250324207
|
0.00003
|
NM_001848.3(COL6A1):c.919C>T (p.Arg307Cys)
|
rs780703597
|
0.00003
|
NM_001848.3(COL6A1):c.930+13C>T
|
rs370271954
|
0.00003
|
NM_001848.3(COL6A1):c.951C>T (p.Gly317=)
|
rs770350586
|
0.00003
|
NM_001848.3(COL6A1):c.1002+15A>T
|
rs762495019
|
0.00002
|
NM_001848.3(COL6A1):c.1005G>T (p.Gly335=)
|
rs765321809
|
0.00002
|
NM_001848.3(COL6A1):c.102C>T (p.Cys34=)
|
rs373972331
|
0.00002
|
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe)
|
rs1179596064
|
0.00002
|
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met)
|
rs1404246917
|
0.00002
|
NM_001848.3(COL6A1):c.1227G>A (p.Ala409=)
|
rs557250335
|
0.00002
|
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys)
|
rs779320527
|
0.00002
|
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)
|
rs202109302
|
0.00002
|
NM_001848.3(COL6A1):c.1611+9G>A
|
rs186975997
|
0.00002
|
NM_001848.3(COL6A1):c.1617G>A (p.Thr539=)
|
rs753448235
|
0.00002
|
NM_001848.3(COL6A1):c.1668A>G (p.Gly556=)
|
rs746081979
|
0.00002
|
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu)
|
rs766478019
|
0.00002
|
NM_001848.3(COL6A1):c.1814-18T>C
|
rs530360168
|
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.1915G>A (p.Val639Ile)
|
rs564072783
|
0.00002
|
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=)
|
rs139914666
|
0.00002
|
NM_001848.3(COL6A1):c.1944C>T (p.Asp648=)
|
rs567731019
|
0.00002
|
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=)
|
rs568596125
|
0.00002
|
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp)
|
rs771702139
|
0.00002
|
NM_001848.3(COL6A1):c.2034C>T (p.Ser678=)
|
rs750801808
|
0.00002
|
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
|
rs774361880
|
0.00002
|
NM_001848.3(COL6A1):c.2259C>T (p.Ser753=)
|
rs769069690
|
0.00002
|
NM_001848.3(COL6A1):c.2274C>T (p.Asp758=)
|
rs150780079
|
0.00002
|
NM_001848.3(COL6A1):c.228-18C>T
|
rs200537886
|
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.2464+12G>A
|
rs757572847
|
0.00002
|
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser)
|
rs780264446
|
0.00002
|
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)
|
rs794727582
|
0.00002
|
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)
|
rs570688674
|
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.2751C>T (p.Asn917=)
|
rs767760988
|
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.2832T>C (p.Asp944=)
|
rs779665693
|
0.00002
|
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)
|
rs375007666
|
0.00002
|
NM_001848.3(COL6A1):c.2901C>T (p.Ile967=)
|
rs746750216
|
0.00002
|
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met)
|
rs751999785
|
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.2952C>T (p.Arg984=)
|
rs770653887
|
0.00002
|
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile)
|
rs781394145
|
0.00002
|
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser)
|
rs746046225
|
0.00002
|
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=)
|
rs769881364
|
0.00002
|
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met)
|
rs764765574
|
0.00002
|
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
|
rs369764291
|
0.00002
|
NM_001848.3(COL6A1):c.312G>A (p.Thr104=)
|
rs1364102125
|
0.00002
|
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)
|
rs368580280
|
0.00002
|
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)
|
rs1309822720
|
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.556G>C (p.Val186Leu)
|
rs886042409
|
0.00002
|
NM_001848.3(COL6A1):c.57G>A (p.Ala19=)
|
rs1172820789
|
0.00002
|
NM_001848.3(COL6A1):c.588+14C>A
|
rs983091594
|
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.759+11C>T
|
rs746763159
|
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.931-4G>A
|
rs758332867
|
0.00002
|
NM_001848.3(COL6A1):c.958-9G>A
|
rs375638855
|
0.00002
|
NM_001848.3(COL6A1):c.1002+6T>C
|
rs13052179
|
0.00001
|
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe)
|
rs756091850
|
0.00001
|
NM_001848.3(COL6A1):c.1044G>A (p.Ser348=)
|
rs749001111
|
0.00001
|
NM_001848.3(COL6A1):c.1057-14C>T
|
rs572427436
|
0.00001
|
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr)
|
rs2077773578
|
0.00001
|
NM_001848.3(COL6A1):c.108G>T (p.Val36=)
|
rs1259912974
|
0.00001
|
NM_001848.3(COL6A1):c.1107G>A (p.Leu369=)
|
rs746451311
|
0.00001
|
NM_001848.3(COL6A1):c.1182+12C>T
|
rs374319468
|
0.00001
|
NM_001848.3(COL6A1):c.1182+5G>C
|
rs1473206283
|
0.00001
|
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu)
|
rs746386684
|
0.00001
|
NM_001848.3(COL6A1):c.1191G>A (p.Pro397=)
|
rs531640667
|
0.00001
|
NM_001848.3(COL6A1):c.1209C>T (p.Pro403=)
|
rs763249073
|
0.00001
|
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)
|
rs765826390
|
0.00001
|
NM_001848.3(COL6A1):c.1236+14C>T
|
rs372483312
|
0.00001
|
NM_001848.3(COL6A1):c.1236+3G>A
|
rs968780030
|
0.00001
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg)
|
rs774032338
|
0.00001
|
NM_001848.3(COL6A1):c.1273-7C>T
|
rs1478209508
|
0.00001
|
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=)
|
rs1326051791
|
0.00001
|
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr)
|
rs1436272876
|
0.00001
|
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)
|
rs753297152
|
0.00001
|
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser)
|
rs2077714741
|
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.1375C>T (p.Pro459Ser)
|
rs1235742792
|
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.1451C>T (p.Pro484Leu)
|
rs779748438
|
0.00001
|
NM_001848.3(COL6A1):c.1462-15C>A
|
rs1369365476
|
0.00001
|
NM_001848.3(COL6A1):c.1462-16T>G
|
rs746367774
|
0.00001
|
NM_001848.3(COL6A1):c.1462-20C>T
|
rs774637944
|
0.00001
|
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly)
|
rs2077813854
|
0.00001
|
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=)
|
rs776768334
|
0.00001
|
NM_001848.3(COL6A1):c.1525-9C>T
|
rs768508076
|
0.00001
|
NM_001848.3(COL6A1):c.1575+4A>G
|
rs1306019240
|
0.00001
|
NM_001848.3(COL6A1):c.1575+6T>C
|
rs745511169
|
0.00001
|
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
|
rs2077819024
|
0.00001
|
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)
|
rs771012175
|
0.00001
|
NM_001848.3(COL6A1):c.1597G>A (p.Ala533Thr)
|
rs546480880
|
0.00001
|
NM_001848.3(COL6A1):c.1611+12C>T
|
rs543297828
|
0.00001
|
NM_001848.3(COL6A1):c.162C>T (p.Pro54=)
|
rs775062782
|
0.00001
|
NM_001848.3(COL6A1):c.1659G>A (p.Gly553=)
|
rs746962599
|
0.00001
|
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)
|
rs886043521
|
0.00001
|
NM_001848.3(COL6A1):c.1675-10T>A
|
rs570045560
|
0.00001
|
NM_001848.3(COL6A1):c.1675-19C>T
|
rs372430900
|
0.00001
|
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)
|
rs140517685
|
0.00001
|
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)
|
rs763515261
|
0.00001
|
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
|
rs887316220
|
0.00001
|
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=)
|
rs371878987
|
0.00001
|
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser)
|
rs778884385
|
0.00001
|
NM_001848.3(COL6A1):c.1740+3G>C
|
rs1314703448
|
0.00001
|
NM_001848.3(COL6A1):c.1741-7C>T
|
rs771621923
|
0.00001
|
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala)
|
rs1462355816
|
0.00001
|
NM_001848.3(COL6A1):c.1772C>T (p.Pro591Leu)
|
rs1020480977
|
0.00001
|
NM_001848.3(COL6A1):c.1776+16T>G
|
rs780222583
|
0.00001
|
NM_001848.3(COL6A1):c.1777-17C>T
|
rs750950364
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)
|
rs201365474
|
0.00001
|
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe)
|
rs368925441
|
0.00001
|
NM_001848.3(COL6A1):c.1822+18G>A
|
rs1187486319
|
0.00001
|
NM_001848.3(COL6A1):c.1823-15C>T
|
rs747230596
|
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.1839C>T (p.Pro613=)
|
rs753486364
|
0.00001
|
NM_001848.3(COL6A1):c.186C>G (p.Val62=)
|
rs1484725853
|
0.00001
|
NM_001848.3(COL6A1):c.1893C>T (p.Phe631=)
|
rs374031718
|
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.1912G>A (p.Val638Ile)
|
rs749790625
|
0.00001
|
NM_001848.3(COL6A1):c.1956+16G>A
|
rs755009917
|
0.00001
|
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=)
|
rs750677675
|
0.00001
|
NM_001848.3(COL6A1):c.1957-16G>C
|
rs373143020
|
0.00001
|
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=)
|
rs121912937
|
0.00001
|
NM_001848.3(COL6A1):c.1978G>A (p.Ala660Thr)
|
rs781341547
|
0.00001
|
NM_001848.3(COL6A1):c.2009T>C (p.Met670Thr)
|
rs776241591
|
0.00001
|
NM_001848.3(COL6A1):c.2014G>A (p.Glu672Lys)
|
rs765421411
|
0.00001
|
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly)
|
rs1255698056
|
0.00001
|
NM_001848.3(COL6A1):c.2067-18C>T
|
rs201620721
|
0.00001
|
NM_001848.3(COL6A1):c.2070C>T (p.Ala690=)
|
rs1421386259
|
0.00001
|
NM_001848.3(COL6A1):c.2097C>T (p.Gly699=)
|
rs537366421
|
0.00001
|
NM_001848.3(COL6A1):c.2127C>T (p.Tyr709=)
|
rs760039653
|
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.2188G>A (p.Gly730Arg)
|
rs1297620940
|
0.00001
|
NM_001848.3(COL6A1):c.2190G>A (p.Gly730=)
|
rs777828224
|
0.00001
|
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala)
|
rs765815035
|
0.00001
|
NM_001848.3(COL6A1):c.2241C>T (p.Pro747=)
|
rs753778247
|
0.00001
|
NM_001848.3(COL6A1):c.2256C>A (p.Val752=)
|
rs749698686
|
0.00001
|
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)
|
rs774657642
|
0.00001
|
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=)
|
rs761665024
|
0.00001
|
NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro)
|
rs754399146
|
0.00001
|
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser)
|
rs370546340
|
0.00001
|
NM_001848.3(COL6A1):c.2361G>A (p.Ser787=)
|
rs774817933
|
0.00001
|
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)
|
rs762499313
|
0.00001
|
NM_001848.3(COL6A1):c.2385G>A (p.Glu795=)
|
rs774423958
|
0.00001
|
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser)
|
rs750677189
|
0.00001
|
NM_001848.3(COL6A1):c.2421C>T (p.Ala807=)
|
rs1472258951
|
0.00001
|
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu)
|
rs936641232
|
0.00001
|
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe)
|
rs536370523
|
0.00001
|
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)
|
rs1422385556
|
0.00001
|
NM_001848.3(COL6A1):c.2464+18C>T
|
rs754626987
|
0.00001
|
NM_001848.3(COL6A1):c.2465-10C>T
|
rs373158112
|
0.00001
|
NM_001848.3(COL6A1):c.2465-4G>A
|
rs769559126
|
0.00001
|
NM_001848.3(COL6A1):c.2465-9G>A
|
rs757270528
|
0.00001
|
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=)
|
rs569497612
|
0.00001
|
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)
|
rs751124572
|
0.00001
|
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=)
|
rs1462765947
|
0.00001
|
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=)
|
rs151306374
|
0.00001
|
NM_001848.3(COL6A1):c.2592G>A (p.Arg864=)
|
rs766279884
|
0.00001
|
NM_001848.3(COL6A1):c.2602G>A (p.Ala868Thr)
|
rs574295337
|
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.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.2693C>T (p.Thr898Met)
|
rs752473048
|
0.00001
|
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val)
|
rs766517983
|
0.00001
|
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile)
|
rs375831680
|
0.00001
|
NM_001848.3(COL6A1):c.273G>A (p.Leu91=)
|
rs759821375
|
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.2841G>A (p.Ser947=)
|
rs768757964
|
0.00001
|
NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys)
|
rs759023976
|
0.00001
|
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)
|
rs370391371
|
0.00001
|
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)
|
rs1224432118
|
0.00001
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)
|
rs751518356
|
0.00001
|
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)
|
rs767414809
|
0.00001
|
NM_001848.3(COL6A1):c.330C>T (p.Arg110=)
|
rs564528164
|
0.00001
|
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
|
rs759880017
|
0.00001
|
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro)
|
rs2077725343
|
0.00001
|
NM_001848.3(COL6A1):c.366C>T (p.Tyr122=)
|
rs770744511
|
0.00001
|
NM_001848.3(COL6A1):c.393C>T (p.Cys131=)
|
rs1020779562
|
0.00001
|
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr)
|
rs1258934082
|
0.00001
|
NM_001848.3(COL6A1):c.454T>C (p.Tyr152His)
|
rs1286529045
|
0.00001
|
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
|
rs749929221
|
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.589-20A>T
|
rs954477080
|
0.00001
|
NM_001848.3(COL6A1):c.596G>A (p.Arg199His)
|
rs201213605
|
0.00001
|
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys)
|
rs1305504243
|
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.641C>T (p.Thr214Met)
|
rs369123247
|
0.00001
|
NM_001848.3(COL6A1):c.642G>A (p.Thr214=)
|
rs529325521
|
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.697G>A (p.Asp233Asn)
|
rs1259945808
|
0.00001
|
NM_001848.3(COL6A1):c.739-9C>T
|
rs886057149
|
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.813A>G (p.Arg271=)
|
rs748184568
|
0.00001
|
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
|
rs1482699064
|
0.00001
|
NM_001848.3(COL6A1):c.858+15G>A
|
rs763432919
|
0.00001
|
NM_001848.3(COL6A1):c.859-16_859-15insG
|
rs764606641
|
0.00001
|
NM_001848.3(COL6A1):c.876C>T (p.Leu292=)
|
rs746362485
|
0.00001
|
NM_001848.3(COL6A1):c.880C>G (p.Pro294Ala)
|
rs141572895
|
0.00001
|
NM_001848.3(COL6A1):c.903+5G>A
|
rs759468291
|
0.00001
|
NM_001848.3(COL6A1):c.903+9C>A
|
rs765060192
|
0.00001
|
NM_001848.3(COL6A1):c.904-11T>G
|
rs766924874
|
0.00001
|
NM_001848.3(COL6A1):c.904-13G>A
|
rs756720407
|
0.00001
|
NM_001848.3(COL6A1):c.920G>A (p.Arg307His)
|
rs145838277
|
0.00001
|
NM_001848.3(COL6A1):c.930+14G>A
|
rs766551754
|
0.00001
|
NM_001848.3(COL6A1):c.931-6C>A
|
rs778657187
|
0.00001
|
NM_001848.3(COL6A1):c.957+7G>A
|
rs764488809
|
0.00001
|
NM_001848.3(COL6A1):c.958-18C>T
|
rs774698729
|
0.00001
|
NM_001848.3(COL6A1):c.97+19T>C
|
rs559717823
|
0.00001
|
NC_000021.8:g.(?_47400663)_(47425963_?)dup
|
|
|
NC_000021.8:g.(?_47407403)_(47407578_?)del
|
|
|
NC_000021.8:g.(?_47407419)_(47408291_?)del
|
|
|
NC_000021.8:g.(?_47408988)_(47410346_?)del
|
|
|
NC_000021.8:g.(?_47410282)_(47410965_?)dup
|
|
|
NC_000021.8:g.(?_47410677)_(47410965_?)dup
|
|
|
NC_000021.8:g.(?_47417315)_(47423927_?)dup
|
|
|
NC_000021.8:g.(?_47422287)_(47423978_?)del
|
|
|
NC_000021.8:g.(?_47423046)_(47429562_?)del
|
|
|
NC_000021.9:g.(?_45981831)_(46004033_?)dup
|
|
|
NC_000021.9:g.(?_45986526)_(45987654_?)del
|
|
|
NC_000021.9:g.(?_45989064)_(45989157_?)del
|
|
|
NM_001848.2(COL6A1):c.1568_1575+1dup
|
rs2077817384
|
|
NM_001848.3(COL6A1):c.1002+11G>A
|
|
|
NM_001848.3(COL6A1):c.1002+13A>G
|
|
|
NM_001848.3(COL6A1):c.1002+13A>T
|
rs1340467004
|
|
NM_001848.3(COL6A1):c.1002+14G>T
|
rs775143867
|
|
NM_001848.3(COL6A1):c.1002+15A>C
|
|
|
NM_001848.3(COL6A1):c.1002+16T>C
|
rs1569518214
|
|
NM_001848.3(COL6A1):c.1002+16T>G
|
|
|
NM_001848.3(COL6A1):c.1002+17A>C
|
rs1343644341
|
|
NM_001848.3(COL6A1):c.1002+17A>G
|
|
|
NM_001848.3(COL6A1):c.1002+17A>T
|
rs1343644341
|
|
NM_001848.3(COL6A1):c.1002+20A>C
|
|
|
NM_001848.3(COL6A1):c.1002+20A>G
|
|
|
NM_001848.3(COL6A1):c.1002+21_1002+40dup
|
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG
|
rs1569518218
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
|
|
|
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA
|
rs2077768137
|
|
NM_001848.3(COL6A1):c.1002+6_1002+88del
|
rs1556425727
|
|
NM_001848.3(COL6A1):c.1002+6_1002+89del
|
|
|
NM_001848.3(COL6A1):c.1002+6_1003-135del
|
rs2123472135
|
|
NM_001848.3(COL6A1):c.1002+8G>A
|
rs759134133
|
|
NM_001848.3(COL6A1):c.1002+9G>A
|
|
|
NM_001848.3(COL6A1):c.1003-10C>G
|
rs182440627
|
|
NM_001848.3(COL6A1):c.1003-11C>T
|
|
|
NM_001848.3(COL6A1):c.1003-15del
|
rs769487412
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-1G>T
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-2A>C
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
NM_001848.3(COL6A1):c.1003-3C>G
|
rs1171069767
|
|
NM_001848.3(COL6A1):c.1003-4C>A
|
|
|
NM_001848.3(COL6A1):c.1003-8C>G
|
|
|
NM_001848.3(COL6A1):c.1005G>A (p.Gly335=)
|
|
|
NM_001848.3(COL6A1):c.1011G>C (p.Met337Ile)
|
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1023C>T (p.Gly341=)
|
|
|
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del)
|
rs398123630
|
|
NM_001848.3(COL6A1):c.1027_1056+76del
|
rs2123473096
|
|
NM_001848.3(COL6A1):c.1029A>C (p.Pro343=)
|
rs1556425843
|
|
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg)
|
rs1569518250
|
|
NM_001848.3(COL6A1):c.1037A>G (p.Lys346Arg)
|
|
|
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp)
|
rs142882745
|
|
NM_001848.3(COL6A1):c.1044G>C (p.Ser348=)
|
|
|
NM_001848.3(COL6A1):c.1047C>A (p.Pro349=)
|
rs202227298
|
|
NM_001848.3(COL6A1):c.1047C>T (p.Pro349=)
|
rs202227298
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>C
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>T
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.1056+2T>C
|
rs797044456
|
|
NM_001848.3(COL6A1):c.1056+2dup
|
|
|
NM_001848.3(COL6A1):c.1056+3A>C
|
rs2077772542
|
|
NM_001848.3(COL6A1):c.1056+4A>C
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1056+4A>G
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.1056+5G>T
|
rs886044511
|
|
NM_001848.3(COL6A1):c.1056+9C>G
|
|
|
NM_001848.3(COL6A1):c.1068A>T (p.Gly356=)
|
rs1481098445
|
|
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr)
|
rs762443936
|
|
NM_001848.3(COL6A1):c.106G>A (p.Val36Met)
|
|
|
NM_001848.3(COL6A1):c.1074T>C (p.Pro358=)
|
rs2123473427
|
|
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)
|
rs886042646
|
|
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
|
|
|
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
|
|
|
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr)
|
rs1603589147
|
|
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
|
|
|
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
|
|
|
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)
|
rs2077774072
|
|
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln)
|
rs144677931
|
|
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
|
|
|
NM_001848.3(COL6A1):c.1119+14G>A
|
|
|
NM_001848.3(COL6A1):c.1119+16C>T
|
rs1370050036
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
NM_001848.3(COL6A1):c.1120-12G>T
|
|
|
NM_001848.3(COL6A1):c.1120-13C>T
|
|
|
NM_001848.3(COL6A1):c.1120-13del
|
rs766658998
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
|
|
|
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr)
|
rs2123474648
|
|
NM_001848.3(COL6A1):c.1155A>G (p.Pro385=)
|
|
|
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)
|
rs2123474665
|
|
NM_001848.3(COL6A1):c.1167A>G (p.Gly389=)
|
|
|
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
|
|
|
NM_001848.3(COL6A1):c.1182+16G>T
|
rs2123474728
|
|
NM_001848.3(COL6A1):c.1182+17C>T
|
|
|
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=)
|
rs1423443362
|
|
NM_001848.3(COL6A1):c.1183-15C>T
|
|
|
NM_001848.3(COL6A1):c.1183-18A>C
|
|
|
NM_001848.3(COL6A1):c.1191G>C (p.Pro397=)
|
rs531640667
|
|
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr)
|
rs983326119
|
|
NM_001848.3(COL6A1):c.1206C>T (p.Pro402=)
|
|
|
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=)
|
rs763249073
|
|
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
|
|
|
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp)
|
rs772775334
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
NM_001848.3(COL6A1):c.1230C>A (p.Gly410=)
|
rs147622862
|
|
NM_001848.3(COL6A1):c.1236+5G>C
|
rs376327142
|
|
NM_001848.3(COL6A1):c.1237-5C>T
|
|
|
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=)
|
rs1245856941
|
|
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
|
|
|
NM_001848.3(COL6A1):c.1266G>A (p.Gly422=)
|
|
|
NM_001848.3(COL6A1):c.126G>A (p.Leu42=)
|
|
|
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp)
|
rs1034465336
|
|
NM_001848.3(COL6A1):c.1272+12A>G
|
|
|
NM_001848.3(COL6A1):c.1272+13G>A
|
rs2123475135
|
|
NM_001848.3(COL6A1):c.1272+3G>A
|
rs2123475120
|
|
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
|
|
|
NM_001848.3(COL6A1):c.1273-12C>G
|
|
|
NM_001848.3(COL6A1):c.1273-18C>G
|
|
|
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)
|
rs2077783907
|
|
NM_001848.3(COL6A1):c.1281T>C (p.Pro427=)
|
rs2123475470
|
|
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
|
|
|
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
|
rs2077714727
|
|
NM_001848.3(COL6A1):c.1317G>A (p.Arg439=)
|
rs1569518379
|
|
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)
|
rs2123475539
|
|
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)
|
rs778234022
|
|
NM_001848.3(COL6A1):c.1335+2_1335+3del
|
|
|
NM_001848.3(COL6A1):c.1335+3G>A
|
|
|
NM_001848.3(COL6A1):c.1335+7C>T
|
rs2123475569
|
|
NM_001848.3(COL6A1):c.1335+9C>T
|
|
|
NM_001848.3(COL6A1):c.1336-16G>T
|
|
|
NM_001848.3(COL6A1):c.1336-19dup
|
|
|
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
|
|
|
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr)
|
rs886057153
|
|
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys)
|
rs762989478
|
|
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
|
|
|
NM_001848.3(COL6A1):c.135T>C (p.Ser45=)
|
|
|
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
|
|
|
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe)
|
rs375452881
|
|
NM_001848.3(COL6A1):c.1398+18G>A
|
|
|
NM_001848.3(COL6A1):c.1398+2T>G
|
rs1569518481
|
|
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=)
|
rs886042955
|
|
NM_001848.3(COL6A1):c.1399-10C>G
|
|
|
NM_001848.3(COL6A1):c.1399-17T>C
|
|
|
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys)
|
rs1235513102
|
|
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
|
|
|
NM_001848.3(COL6A1):c.1401C>T (p.Gly467=)
|
|
|
NM_001848.3(COL6A1):c.1414A>C (p.Ile472Leu)
|
rs773660427
|
|
NM_001848.3(COL6A1):c.1416C>T (p.Ile472=)
|
|
|
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg)
|
rs766667205
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.1431C>T (p.Tyr477=)
|
|
|
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.1461+10A>T
|
|
|
NM_001848.3(COL6A1):c.1461+7C>T
|
rs994516309
|
|
NM_001848.3(COL6A1):c.1462-12C>T
|
|
|
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp)
|
rs117340427
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
|
NM_001848.3(COL6A1):c.1485T>C (p.Pro495=)
|
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
NM_001848.3(COL6A1):c.1494C>A (p.Pro498=)
|
|
|
NM_001848.3(COL6A1):c.14G>A (p.Arg5His)
|
rs1556423460
|
|
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=)
|
rs139987124
|
|
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=)
|
rs139987124
|
|
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu)
|
rs1556428597
|
|
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser)
|
rs2123482543
|
|
NM_001848.3(COL6A1):c.1524+13C>T
|
|
|
NM_001848.3(COL6A1):c.1524+18C>T
|
|
|
NM_001848.3(COL6A1):c.1524+19G>A
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1524+19G>C
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1524+1G>A
|
|
|
NM_001848.3(COL6A1):c.1525-18G>T
|
|
|
NM_001848.3(COL6A1):c.1525-20C>T
|
|
|
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
|
|
|
NM_001848.3(COL6A1):c.1537C>T (p.Pro513Ser)
|
rs1202320827
|
|
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
|
|
|
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser)
|
rs2123483067
|
|
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)
|
rs2077817452
|
|
NM_001848.3(COL6A1):c.1575+11G>A
|
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT
|
rs758434455
|
|
NM_001848.3(COL6A1):c.1575+2dup
|
rs758434455
|
|
NM_001848.3(COL6A1):c.1576-1G>A
|
rs112814811
|
|
NM_001848.3(COL6A1):c.1576-2A>G
|
|
|
NM_001848.3(COL6A1):c.1576-2_1576-1del
|
rs1569518725
|
|
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)
|
rs121912934
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
NM_001848.3(COL6A1):c.159G>A (p.Lys53=)
|
|
|
NM_001848.3(COL6A1):c.15T>A (p.Arg5=)
|
rs2123459083
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1611+10C>T
|
|
|
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys)
|
rs200023632
|
|
NM_001848.3(COL6A1):c.1612-11C>T
|
rs370801259
|
|
NM_001848.3(COL6A1):c.1612-13C>T
|
|
|
NM_001848.3(COL6A1):c.1612-3C>T
|
rs767913216
|
|
NM_001848.3(COL6A1):c.1612-4G>A
|
|
|
NM_001848.3(COL6A1):c.1614C>T (p.Gly538=)
|
|
|
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg)
|
rs1603593300
|
|
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
|
|
|
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
|
|
|
NM_001848.3(COL6A1):c.1645G>A (p.Glu549Lys)
|
|
|
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr)
|
rs1397088680
|
|
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
|
|
|
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)
|
rs2077822326
|
|
NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup)
|
rs2123484082
|
|
NM_001848.3(COL6A1):c.1662C>T (p.Asp554=)
|
|
|
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
|
|
|
NM_001848.3(COL6A1):c.1674+15G>C
|
rs749423625
|
|
NM_001848.3(COL6A1):c.1674+1G>A
|
rs2123484131
|
|
NM_001848.3(COL6A1):c.1674+3_1674+6del
|
|
|
NM_001848.3(COL6A1):c.1674+7G>A
|
|
|
NM_001848.3(COL6A1):c.1675-5T>G
|
|
|
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=)
|
rs1603593356
|
|
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)
|
rs775182845
|
|
NM_001848.3(COL6A1):c.1719C>T (p.Tyr573=)
|
rs1013945029
|
|
NM_001848.3(COL6A1):c.1721G>C (p.Arg574Pro)
|
|
|
NM_001848.3(COL6A1):c.1722G>A (p.Arg574=)
|
rs1004303947
|
|
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
|
rs2077824006
|
|
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
|
|
|
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp)
|
rs755214430
|
|
NM_001848.3(COL6A1):c.1738del (p.Gln580fs)
|
rs2123484530
|
|
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)
|
rs1359915404
|
|
NM_001848.3(COL6A1):c.1740+14G>T
|
|
|
NM_001848.3(COL6A1):c.1740+17G>A
|
rs200299050
|
|
NM_001848.3(COL6A1):c.1740+18G>A
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1740+18G>T
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1740+19G>A
|
|
|
NM_001848.3(COL6A1):c.1740+3G>A
|
|
|
NM_001848.3(COL6A1):c.1741-14C>T
|
rs201088377
|
|
NM_001848.3(COL6A1):c.1755C>T (p.His585=)
|
|
|
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)
|
rs1188795991
|
|
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
|
|
|
NM_001848.3(COL6A1):c.1776+7G>A
|
|
|
NM_001848.3(COL6A1):c.1777-20C>G
|
|
|
NM_001848.3(COL6A1):c.1777-8C>T
|
|
|
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys)
|
rs367650141
|
|
NM_001848.3(COL6A1):c.178G>T (p.Asp60Tyr)
|
rs2123460260
|
|
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
|
|
|
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
|
|
|
NM_001848.3(COL6A1):c.1813+12T>C
|
|
|
NM_001848.3(COL6A1):c.1813+13G>C
|
|
|
NM_001848.3(COL6A1):c.1813+20C>T
|
|
|
NM_001848.3(COL6A1):c.1813+3_1813+6del
|
|
|
NM_001848.3(COL6A1):c.1814-15_1814-12del
|
rs1399956018
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1814-6C>T
|
|
|
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA
|
rs2077839436
|
|
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
|
|
|
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
|
|
|
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)
|
rs1439633596
|
|
NM_001848.3(COL6A1):c.1822+10A>G
|
|
|
NM_001848.3(COL6A1):c.1822+11G>A
|
rs566601241
|
|
NM_001848.3(COL6A1):c.1822+11G>T
|
rs566601241
|
|
NM_001848.3(COL6A1):c.1822+14del
|
|
|
NM_001848.3(COL6A1):c.1822+9C>G
|
rs373566530
|
|
NM_001848.3(COL6A1):c.1822+9C>T
|
|
|
NM_001848.3(COL6A1):c.1823-12C>T
|
|
|
NM_001848.3(COL6A1):c.1823-13C>T
|
rs571173076
|
|
NM_001848.3(COL6A1):c.1823-14G>A
|
|
|
NM_001848.3(COL6A1):c.1823-1G>T
|
rs1569519030
|
|
NM_001848.3(COL6A1):c.1827C>T (p.Cys609=)
|
|
|
NM_001848.3(COL6A1):c.1830G>A (p.Lys610=)
|
|
|
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val)
|
rs1222901174
|
|
NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001848.3(COL6A1):c.1840A>G (p.Ile614Val)
|
|
|
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
|
|
|
NM_001848.3(COL6A1):c.1843G>A (p.Asp615Asn)
|
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe)
|
rs1423091612
|
|
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu)
|
rs150938324
|
|
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly)
|
rs1603589342
|
|
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)
|
rs2123488904
|
|
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
|
|
|
NM_001848.3(COL6A1):c.1877T>C (p.Ile626Thr)
|
rs781626943
|
|
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=)
|
rs1447613750
|
|
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu)
|
rs552239546
|
|
NM_001848.3(COL6A1):c.1914C>T (p.Val638=)
|
rs867670442
|
|
NM_001848.3(COL6A1):c.1939C>T (p.Arg647Trp)
|
|
|
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=)
|
rs375448277
|
|
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
|
|
|
NM_001848.3(COL6A1):c.1956+11G>A
|
|
|
NM_001848.3(COL6A1):c.1956+16G>T
|
|
|
NM_001848.3(COL6A1):c.1956+19C>T
|
|
|
NM_001848.3(COL6A1):c.1956+20G>A
|
|
|
NM_001848.3(COL6A1):c.1957-8T>A
|
|
|
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln)
|
rs375318905
|
|
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
|
|
|
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu)
|
rs1260709010
|
|
NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)
|
|
|
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=)
|
rs370780432
|
|
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
|
rs771702139
|
|
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
|
|
|
NM_001848.3(COL6A1):c.1989G>A (p.Val663=)
|
rs760624194
|
|
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
|
|
|
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
|
|
|
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu)
|
rs2123459059
|
|
NM_001848.3(COL6A1):c.2019C>G (p.His673Gln)
|
rs141424786
|
|
NM_001848.3(COL6A1):c.2022G>A (p.Val674=)
|
rs764099825
|
|
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)
|
rs373731596
|
|
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
|
|
|
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.2052G>A (p.Val684=)
|
|
|
NM_001848.3(COL6A1):c.2052G>T (p.Val684=)
|
rs1219591102
|
|
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
|
|
|
NM_001848.3(COL6A1):c.2066+12A>C
|
|
|
NM_001848.3(COL6A1):c.2066+13C>T
|
|
|
NM_001848.3(COL6A1):c.2066+15C>A
|
rs201407082
|
|
NM_001848.3(COL6A1):c.2066+15C>T
|
rs201407082
|
|
NM_001848.3(COL6A1):c.2066+16G>A
|
|
|
NM_001848.3(COL6A1):c.2066+16G>T
|
|
|
NM_001848.3(COL6A1):c.2066+2T>C
|
rs2077849329
|
|
NM_001848.3(COL6A1):c.2067-15C>T
|
|
|
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg)
|
rs2123490353
|
|
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
|
|
|
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val)
|
rs2123490392
|
|
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
|
|
|
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
|
|
|
NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)
|
|
|
NM_001848.3(COL6A1):c.2118C>T (p.Ala706=)
|
rs2077850957
|
|
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
|
|
|
NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)
|
|
|
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
|
|
|
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
|
|
|
NM_001848.3(COL6A1):c.2148G>C (p.Pro716=)
|
rs780032842
|
|
NM_001848.3(COL6A1):c.2157G>C (p.Pro719=)
|
rs377152990
|
|
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
|
|
|
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
|
|
|
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
|
|
|
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
|
|
|
NM_001848.3(COL6A1):c.2190G>T (p.Gly730=)
|
|
|
NM_001848.3(COL6A1):c.2193C>T (p.Arg731=)
|
rs1025417641
|
|
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup)
|
rs2123490613
|
|
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
|
|
|
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
|
|
|
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
|
|
|
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
|
|
|
NM_001848.3(COL6A1):c.2250+11C>T
|
|
|
NM_001848.3(COL6A1):c.2250+9G>A
|
rs1342014969
|
|
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
|
|
|
NM_001848.3(COL6A1):c.2251-11_2251-8del
|
|
|
NM_001848.3(COL6A1):c.2251-16C>T
|
rs1243894570
|
|
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
|
|
|
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
|
|
|
NM_001848.3(COL6A1):c.227+16C>T
|
|
|
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)
|
rs886042688
|
|
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
|
|
|
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=)
|
rs1434098396
|
|
NM_001848.3(COL6A1):c.2329C>T (p.Leu777=)
|
|
|
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs)
|
rs2123490954
|
|
NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)
|
|
|
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr)
|
rs2077853664
|
|
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
|
|
|
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)
|
rs886042391
|
|
NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)
|
|
|
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu)
|
rs1203093809
|
|
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=)
|
rs1603594564
|
|
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
|
|
|
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)
|
rs2077854422
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC
|
rs2123491106
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC
|
rs1569519143
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT
|
rs1569519146
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15inv
|
|
|
NM_001848.3(COL6A1):c.2434+15_2434+54del
|
rs1064795349
|
|
NM_001848.3(COL6A1):c.2434+15_2434+94del
|
rs1603594606
|
|
NM_001848.3(COL6A1):c.2434+16C>G
|
rs2123491221
|
|
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC
|
rs2123491242
|
|
NM_001848.3(COL6A1):c.2434+45_2434+124del
|
rs2123491228
|
|
NM_001848.3(COL6A1):c.2434+45_2434+84del
|
|
|
NM_001848.3(COL6A1):c.2434+4C>T
|
rs202147670
|
|
NM_001848.3(COL6A1):c.2434+5G>T
|
rs1360722232
|
|
NM_001848.3(COL6A1):c.2434+7A>C
|
rs769385161
|
|
NM_001848.3(COL6A1):c.2434+8T>A
|
rs1227258893
|
|
NM_001848.3(COL6A1):c.2434+8T>C
|
|
|
NM_001848.3(COL6A1):c.2434+8T>G
|
|
|
NM_001848.3(COL6A1):c.2434+9G>T
|
|
|
NM_001848.3(COL6A1):c.2435-13T>C
|
rs746838395
|
|
NM_001848.3(COL6A1):c.2435-13T>G
|
rs746838395
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
|
|
|
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln)
|
rs2123491909
|
|
NM_001848.3(COL6A1):c.2450A>G (p.Asp817Gly)
|
|
|
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=)
|
rs1182297662
|
|
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
|
|
|
NM_001848.3(COL6A1):c.2464+14C>T
|
|
|
NM_001848.3(COL6A1):c.2464+15G>A
|
rs753573923
|
|
NM_001848.3(COL6A1):c.2464+1G>A
|
rs113290209
|
|
NM_001848.3(COL6A1):c.2475C>T (p.Ser825=)
|
rs1009381380
|
|
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr)
|
rs1427066240
|
|
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
|
|
|
NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)
|
|
|
NM_001848.3(COL6A1):c.2511C>T (p.Ser837=)
|
|
|
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val)
|
rs1486288129
|
|
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
|
|
|
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
|
|
|
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
|
|
|
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro)
|
rs748327110
|
|
NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)
|
|
|
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
|
|
|
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
|
|
|
NM_001848.3(COL6A1):c.2580C>T (p.Leu860=)
|
rs2123492588
|
|
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
|
|
|
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>T (p.His869=)
|
|
|
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
|
|
|
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)
|
|
|
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
|
|
|
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)
|
rs544927344
|
|
NM_001848.3(COL6A1):c.2638G>C (p.Gly880Arg)
|
|
|
NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)
|
|
|
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.2666C>T (p.Ala889Val)
|
|
|
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro)
|
rs2077862405
|
|
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
|
|
|
NM_001848.3(COL6A1):c.2680C>T (p.Leu894=)
|
rs1409263435
|
|
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
|
|
|
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)
|
rs1226903258
|
|
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly)
|
rs766517983
|
|
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
|
|
|
NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)
|
|
|
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn)
|
rs757422397
|
|
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
|
|
|
NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)
|
|
|
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
|
|
|
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del)
|
rs2123492948
|
|
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
|
|
|
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
|
|
|
NM_001848.3(COL6A1):c.2766T>C (p.Tyr922=)
|
rs889975432
|
|
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.2783G>T (p.Arg928Leu)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
|
|
|
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
|
|
|
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
|
|
|
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del)
|
rs886043457
|
|
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
|
|
|
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
|
|
|
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)
|
rs147882179
|
|
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>A (p.Ala958Asp)
|
rs763228065
|
|
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
|
|
|
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=)
|
rs769441014
|
|
NM_001848.3(COL6A1):c.288G>A (p.Glu96=)
|
|
|
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu)
|
rs769795690
|
|
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)
|
rs769795690
|
|
NM_001848.3(COL6A1):c.2927G>A (p.Arg976His)
|
rs753485651
|
|
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
|
|
|
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr)
|
rs1569519253
|
|
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
|
|
|
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
|
rs138652066
|
|
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
|
|
|
NM_001848.3(COL6A1):c.2973G>A (p.Thr991=)
|
|
|
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val)
|
rs1316734507
|
|
NM_001848.3(COL6A1):c.2976C>G (p.Ala992=)
|
|
|
NM_001848.3(COL6A1):c.2977G>A (p.Glu993Lys)
|
|
|
NM_001848.3(COL6A1):c.2985C>T (p.Asp995=)
|
rs759217203
|
|
NM_001848.3(COL6A1):c.2989G>T (p.Ala997Ser)
|
|
|
NM_001848.3(COL6A1):c.2995G>A (p.Gly999Ser)
|
|
|
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp)
|
rs1603595132
|
|
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys)
|
rs201456885
|
|
NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)
|
|
|
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln)
|
rs1180948133
|
|
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)
|
rs2077865473
|
|
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)
|
rs376999117
|
|
NM_001848.3(COL6A1):c.3014G>C (p.Arg1005Pro)
|
|
|
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
|
|
|
NM_001848.3(COL6A1):c.3042C>A (p.Arg1014=)
|
|
|
NM_001848.3(COL6A1):c.3042C>T (p.Arg1014=)
|
|
|
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs)
|
rs766289958
|
|
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
|
|
|
NM_001848.3(COL6A1):c.3060A>G (p.Thr1020=)
|
rs953326229
|
|
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
|
|
|
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.314G>A (p.Arg105His)
|
|
|
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.320C>T (p.Pro107Leu)
|
|
|
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
|
|
|
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
|
|
|
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn)
|
rs372627181
|
|
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
|
|
|
NM_001848.3(COL6A1):c.354C>T (p.Asp118=)
|
rs1569517713
|
|
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
|
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
NM_001848.3(COL6A1):c.36G>C (p.Leu12=)
|
rs2123459117
|
|
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn)
|
rs1603589594
|
|
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val)
|
rs1300015385
|
|
NM_001848.3(COL6A1):c.387C>A (p.Thr129=)
|
rs377140588
|
|
NM_001848.3(COL6A1):c.387C>T (p.Thr129=)
|
|
|
NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn)
|
rs1235398371
|
|
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
|
|
|
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr)
|
rs1454397058
|
|
NM_001848.3(COL6A1):c.411G>A (p.Leu137=)
|
|
|
NM_001848.3(COL6A1):c.417G>A (p.Gln139=)
|
|
|
NM_001848.3(COL6A1):c.424G>A (p.Val142Met)
|
rs144282452
|
|
NM_001848.3(COL6A1):c.428+10C>T
|
rs1437662111
|
|
NM_001848.3(COL6A1):c.428+11C>T
|
|
|
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
|
|
|
NM_001848.3(COL6A1):c.428+1G>A
|
rs1569517717
|
|
NM_001848.3(COL6A1):c.428+5G>A
|
rs1603589628
|
|
NM_001848.3(COL6A1):c.429-11C>T
|
|
|
NM_001848.3(COL6A1):c.429-13C>A
|
|
|
NM_001848.3(COL6A1):c.429-15C>T
|
|
|
NM_001848.3(COL6A1):c.429-17del
|
rs2123465809
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
NM_001848.3(COL6A1):c.429-19G>T
|
|
|
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
|
|
|
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val)
|
rs2077739763
|
|
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
|
|
|
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
|
|
|
NM_001848.3(COL6A1):c.472G>A (p.Asp158Asn)
|
|
|
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
|
rs1471465037
|
|
NM_001848.3(COL6A1):c.477G>T (p.Gly159=)
|
|
|
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
|
|
|
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)
|
rs980266782
|
|
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
|
|
|
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala)
|
rs1309872535
|
|
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)
|
rs747419878
|
|
NM_001848.3(COL6A1):c.513G>C (p.Gly171=)
|
rs1276849352
|
|
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
|
|
|
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val)
|
rs1385535913
|
|
NM_001848.3(COL6A1):c.525T>A (p.Ala175=)
|
rs761552446
|
|
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)
|
rs2077740453
|
|
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr)
|
rs1556424938
|
|
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
|
|
|
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala)
|
rs766184155
|
|
NM_001848.3(COL6A1):c.549C>A (p.Gly183=)
|
rs398123636
|
|
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
|
|
|
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
|
rs1377090546
|
|
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
|
|
|
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
|
|
|
NM_001848.3(COL6A1):c.564G>A (p.Ser188=)
|
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val)
|
rs1273238821
|
|
NM_001848.3(COL6A1):c.57G>T (p.Ala19=)
|
|
|
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
|
|
|
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr)
|
rs2077740811
|
|
NM_001848.3(COL6A1):c.588+12_588+13delinsTA
|
rs2123466169
|
|
NM_001848.3(COL6A1):c.588+12_588+13insAC
|
rs1556424960
|
|
NM_001848.3(COL6A1):c.588+16C>G
|
|
|
NM_001848.3(COL6A1):c.588+17_588+18insA
|
|
|
NM_001848.3(COL6A1):c.588+18C>T
|
|
|
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.589-20A>C
|
|
|
NM_001848.3(COL6A1):c.589-3C>T
|
rs1288681930
|
|
NM_001848.3(COL6A1):c.589-8G>A
|
|
|
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
|
|
|
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)
|
rs1603589167
|
|
NM_001848.3(COL6A1):c.594G>C (p.Pro198=)
|
rs376592866
|
|
NM_001848.3(COL6A1):c.603C>T (p.Ser201=)
|
|
|
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
|
|
|
NM_001848.3(COL6A1):c.606C>T (p.Ile202=)
|
|
|
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
|
|
|
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
|
|
|
NM_001848.3(COL6A1):c.631C>G (p.Arg211Gly)
|
rs375217284
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
NM_001848.3(COL6A1):c.632G>A (p.Arg211His)
|
|
|
NM_001848.3(COL6A1):c.644C>T (p.Ala215Val)
|
|
|
NM_001848.3(COL6A1):c.64G>A (p.Glu22Lys)
|
rs1461577118
|
|
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)
|
rs780638665
|
|
NM_001848.3(COL6A1):c.678G>A (p.Glu226=)
|
rs1370178953
|
|
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
|
|
|
NM_001848.3(COL6A1):c.699C>T (p.Asp233=)
|
rs2123466761
|
|
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)
|
rs2077743440
|
|
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn)
|
rs2123466789
|
|
NM_001848.3(COL6A1):c.717+10C>T
|
|
|
NM_001848.3(COL6A1):c.717+9C>G
|
|
|
NM_001848.3(COL6A1):c.718-11dup
|
rs778494336
|
|
NM_001848.3(COL6A1):c.718-20G>A
|
|
|
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
|
|
|
NM_001848.3(COL6A1):c.720A>G (p.Lys240=)
|
rs147612667
|
|
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
|
|
|
NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)
|
|
|
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
|
|
|
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
|
|
|
NM_001848.3(COL6A1):c.732G>A (p.Glu244=)
|
|
|
NM_001848.3(COL6A1):c.738+1G>T
|
rs2077744287
|
|
NM_001848.3(COL6A1):c.738+24del
|
|
|
NM_001848.3(COL6A1):c.739-11del
|
rs573196191
|
|
NM_001848.3(COL6A1):c.739-13T>C
|
rs2123467487
|
|
NM_001848.3(COL6A1):c.739-2A>G
|
rs2123467538
|
|
NM_001848.3(COL6A1):c.739-5C>T
|
rs369946755
|
|
NM_001848.3(COL6A1):c.739-6C>G
|
rs755793406
|
|
NM_001848.3(COL6A1):c.739-7C>T
|
rs1603590124
|
|
NM_001848.3(COL6A1):c.741C>T (p.Cys247=)
|
|
|
NM_001848.3(COL6A1):c.748_805-704del
|
|
|
NM_001848.3(COL6A1):c.750C>T (p.Phe250=)
|
rs748153811
|
|
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
|
|
|
NM_001848.3(COL6A1):c.756C>T (p.Cys252=)
|
|
|
NM_001848.3(COL6A1):c.759+12C>G
|
|
|
NM_001848.3(COL6A1):c.759+15C>T
|
|
|
NM_001848.3(COL6A1):c.759+15del
|
|
|
NM_001848.3(COL6A1):c.760-18G>A
|
|
|
NM_001848.3(COL6A1):c.760-19C>T
|
|
|
NM_001848.3(COL6A1):c.760-3C>T
|
|
|
NM_001848.3(COL6A1):c.760-5T>G
|
rs1322851367
|
|
NM_001848.3(COL6A1):c.760-7C>T
|
rs2123467721
|
|
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
|
|
|
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro)
|
rs145473829
|
|
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr)
|
rs2077747487
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
|
|
|
NM_001848.3(COL6A1):c.804+14C>T
|
|
|
NM_001848.3(COL6A1):c.804+1G>A
|
rs1385646650
|
|
NM_001848.3(COL6A1):c.804+20C>T
|
|
|
NM_001848.3(COL6A1):c.804+8G>A
|
|
|
NM_001848.3(COL6A1):c.804+9T>C
|
rs2123467834
|
|
NM_001848.3(COL6A1):c.805-11T>C
|
|
|
NM_001848.3(COL6A1):c.805-2A>C
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>T
|
rs398123639
|
|
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)
|
rs2077759104
|
|
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)
|
rs1569518070
|
|
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)
|
rs1391624796
|
|
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)
|
rs1064793840
|
|
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg)
|
rs201093313
|
|
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)
|
rs1556425468
|
|
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
|
|
|
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
|
|
|
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)
|
rs267606746
|
|
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)
|
rs886041383
|
|
NM_001848.3(COL6A1):c.842_858+7del
|
rs2077759485
|
|
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del)
|
rs1556425474
|
|
NM_001848.3(COL6A1):c.849C>T (p.Ala283=)
|
rs1186770930
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.858+10T>C
|
rs2123470427
|
|
NM_001848.3(COL6A1):c.858+13C>G
|
|
|
NM_001848.3(COL6A1):c.858+13C>T
|
|
|
NM_001848.3(COL6A1):c.858+5G>A
|
rs2123470416
|
|
NM_001848.3(COL6A1):c.858+5G>T
|
|
|
NM_001848.3(COL6A1):c.858+7G>C
|
rs2123470420
|
|
NM_001848.3(COL6A1):c.858+8C>T
|
|
|
NM_001848.3(COL6A1):c.859-15C>A
|
rs759271765
|
|
NM_001848.3(COL6A1):c.859-15C>T
|
|
|
NM_001848.3(COL6A1):c.859-1G>C
|
rs1556425531
|
|
NM_001848.3(COL6A1):c.859-20_859-17del
|
rs766293322
|
|
NM_001848.3(COL6A1):c.859-20_859-18delinsTGA
|
rs386819390
|
|
NM_001848.3(COL6A1):c.859-20_859-19inv
|
|
|
NM_001848.3(COL6A1):c.859-2A>G
|
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
NM_001848.3(COL6A1):c.85G>A (p.Val29Met)
|
rs766057159
|
|
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
|
rs2077761954
|
|
NM_001848.3(COL6A1):c.861A>G (p.Gly287=)
|
|
|
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala)
|
rs777764932
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
|
|
|
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
|
|
|
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.888G>A (p.Gly296=)
|
rs2123470925
|
|
NM_001848.3(COL6A1):c.894G>C (p.Gln298His)
|
rs371989252
|
|
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)
|
rs2077762322
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
NM_001848.3(COL6A1):c.903+10_903+25del
|
|
|
NM_001848.3(COL6A1):c.903+12C>A
|
|
|
NM_001848.3(COL6A1):c.903+12C>G
|
|
|
NM_001848.3(COL6A1):c.903+12C>T
|
|
|
NM_001848.3(COL6A1):c.903+13C>A
|
rs199632006
|
|
NM_001848.3(COL6A1):c.903+13C>G
|
rs199632006
|
|
NM_001848.3(COL6A1):c.903+13_903+14delinsTA
|
rs2123470988
|
|
NM_001848.3(COL6A1):c.903+14del
|
rs757968177
|
|
NM_001848.3(COL6A1):c.903+18C>A
|
|
|
NM_001848.3(COL6A1):c.903+1G>T
|
rs1569518119
|
|
NM_001848.3(COL6A1):c.903+20T>C
|
rs2123470996
|
|
NM_001848.3(COL6A1):c.903+20T>G
|
|
|
NM_001848.3(COL6A1):c.903+2_903+10del
|
|
|
NM_001848.3(COL6A1):c.904-10G>A
|
rs794727027
|
|
NM_001848.3(COL6A1):c.904-14C>T
|
|
|
NM_001848.3(COL6A1):c.904-18C>T
|
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.904-39A>T
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.904-3T>G
|
|
|
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)
|
rs1556425566
|
|
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg)
|
rs1469287281
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
|
|
|
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val)
|
rs2077763346
|
|
NM_001848.3(COL6A1):c.924G>A (p.Gly308=)
|
rs374654116
|
|
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
|
|
|
NM_001848.3(COL6A1):c.928_930+23del
|
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+10G>A
|
rs772379034
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001848.3(COL6A1):c.930+19C>T
|
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.930+1G>T
|
rs886042902
|
|
NM_001848.3(COL6A1):c.930+20G>A
|
|
|
NM_001848.3(COL6A1):c.930+20G>C
|
rs765683206
|
|
NM_001848.3(COL6A1):c.931-10G>A
|
|
|
NM_001848.3(COL6A1):c.931-17G>A
|
rs568147495
|
|
NM_001848.3(COL6A1):c.931-17G>T
|
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-4G>T
|
rs758332867
|
|
NM_001848.3(COL6A1):c.931-8C>G
|
|
|
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)
|
rs2123471915
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.934T>G (p.Ser312Ala)
|
rs771229905
|
|
NM_001848.3(COL6A1):c.93C>T (p.Phe31=)
|
rs753371577
|
|
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001848.3(COL6A1):c.957+10G>A
|
|
|
NM_001848.3(COL6A1):c.957+1G>A
|
rs886044535
|
|
NM_001848.3(COL6A1):c.957+1G>C
|
|
|
NM_001848.3(COL6A1):c.957+2T>C
|
rs794727060
|
|
NM_001848.3(COL6A1):c.957+4A>T
|
|
|
NM_001848.3(COL6A1):c.957+6C>G
|
rs374926748
|
|
NM_001848.3(COL6A1):c.957G>A (p.Lys319=)
|
rs1057520625
|
|
NM_001848.3(COL6A1):c.957_957+7del
|
rs1556425687
|
|
NM_001848.3(COL6A1):c.958-11C>T
|
|
|
NM_001848.3(COL6A1):c.958-13T>G
|
rs1490319824
|
|
NM_001848.3(COL6A1):c.958-2A>G
|
rs1556425717
|
|
NM_001848.3(COL6A1):c.958-2_958-1del
|
rs2123472064
|
|
NM_001848.3(COL6A1):c.958-3_958-2del
|
|
|
NM_001848.3(COL6A1):c.958-5C>T
|
|
|
NM_001848.3(COL6A1):c.97+12C>G
|
rs2077709554
|
|
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del)
|
rs2123472068
|
|
NM_001848.3(COL6A1):c.973C>G (p.Arg325Gly)
|
rs764704372
|
|
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)
|
rs764704372
|
|
NM_001848.3(COL6A1):c.98-2_103del
|
rs1556423703
|
|
NM_001848.3(COL6A1):c.98-6G>A
|
rs886042599
|
|
NM_001848.3(COL6A1):c.987G>A (p.Gly329=)
|
|
|
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
|
|
|
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
|
|
|
NM_001848.3(COL6A1):c.9G>A (p.Ala3=)
|
rs369561233
|
|
NM_001848.3:c.19dup
|
|
|