NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)
|
rs114061998
|
0.00214
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met)
|
rs35524572
|
0.00122
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=)
|
rs146662894
|
0.00112
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_001849.4(COL6A2):c.2423-11C>T
|
rs199952790
|
0.00096
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
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_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)
|
rs35887009
|
0.00080
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_001848.3(COL6A1):c.984C>T (p.Asp328=)
|
rs781038607
|
0.00072
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser)
|
rs114549120
|
0.00071
|
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_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)
|
rs142882745
|
0.00065
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
0.00063
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)
|
rs143631346
|
0.00058
|
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_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
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_001849.4(COL6A2):c.2462-12G>A
|
rs369839157
|
0.00053
|
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)
|
rs370446082
|
0.00051
|
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)
|
rs148249892
|
0.00051
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)
|
rs145460820
|
0.00048
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
NM_004369.4(COL6A3):c.5500+19A>G
|
rs187794916
|
0.00045
|
NM_001848.3(COL6A1):c.3002G>A (p.Ser1001Asn)
|
rs756372387
|
0.00044
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=)
|
rs144249704
|
0.00044
|
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=)
|
rs111938213
|
0.00043
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=)
|
rs148713779
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)
|
rs145560772
|
0.00041
|
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)
|
rs186775751
|
0.00040
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
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_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn)
|
rs114804083
|
0.00037
|
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)
|
rs183994910
|
0.00036
|
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)
|
rs201314411
|
0.00036
|
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)
|
rs142296092
|
0.00035
|
NM_004369.4(COL6A3):c.8007C>T (p.His2669=)
|
rs528369978
|
0.00035
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
NM_001849.4(COL6A2):c.1970-10C>T
|
rs373369963
|
0.00034
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
NM_001848.3(COL6A1):c.1675-16C>T
|
rs200659458
|
0.00033
|
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)
|
rs139399166
|
0.00033
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
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_001849.4(COL6A2):c.1117-7C>A
|
rs202094835
|
0.00031
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)
|
rs138049094
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)
|
rs115595706
|
0.00031
|
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=)
|
rs114684687
|
0.00031
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=)
|
rs116760648
|
0.00029
|
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)
|
rs113332380
|
0.00029
|
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=)
|
rs34390834
|
0.00029
|
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)
|
rs144054353
|
0.00029
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)
|
rs374267444
|
0.00028
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)
|
rs375452881
|
0.00027
|
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)
|
rs113360085
|
0.00027
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=)
|
rs375729592
|
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_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
NM_001849.4(COL6A2):c.2423-9C>G
|
rs368725753
|
0.00026
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln)
|
rs765276422
|
0.00026
|
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=)
|
rs115973206
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=)
|
rs143705718
|
0.00026
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=)
|
rs756243022
|
0.00026
|
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=)
|
rs115130936
|
0.00026
|
NM_004369.4(COL6A3):c.7092+20T>C
|
rs115681406
|
0.00026
|
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)
|
rs148821986
|
0.00026
|
NM_001848.3(COL6A1):c.2694G>A (p.Thr898=)
|
rs372931456
|
0.00025
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
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_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln)
|
rs139498556
|
0.00024
|
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg)
|
rs545819982
|
0.00024
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
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_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)
|
rs139488626
|
0.00022
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=)
|
rs148630223
|
0.00021
|
NM_001848.3(COL6A1):c.958-10C>T
|
rs200508160
|
0.00021
|
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=)
|
rs528635866
|
0.00021
|
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)
|
rs201736323
|
0.00021
|
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)
|
rs398123650
|
0.00021
|
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)
|
rs201188174
|
0.00021
|
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu)
|
rs199504304
|
0.00021
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
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_001849.4(COL6A2):c.1130G>A (p.Arg377His)
|
rs148552966
|
0.00020
|
NM_001849.4(COL6A2):c.1522-20G>A
|
rs368072665
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=)
|
rs200023632
|
0.00019
|
NM_001848.3(COL6A1):c.759+16G>A
|
rs373366336
|
0.00019
|
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)
|
rs199896699
|
0.00019
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00019
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=)
|
rs149890179
|
0.00019
|
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)
|
rs144291325
|
0.00019
|
NM_004369.4(COL6A3):c.9494-7C>T
|
rs374024399
|
0.00019
|
NM_001848.3(COL6A1):c.696C>T (p.Ile232=)
|
rs139148709
|
0.00018
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00018
|
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)
|
rs144334894
|
0.00018
|
NM_001849.4(COL6A2):c.2907G>A (p.Val969=)
|
rs138004735
|
0.00018
|
NM_001849.4(COL6A2):c.828G>A (p.Pro276=)
|
rs140790797
|
0.00018
|
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu)
|
rs138109666
|
0.00018
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
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_001849.4(COL6A2):c.2556C>T (p.Ala852=)
|
rs148404291
|
0.00017
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu)
|
rs557448772
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
NM_004369.4(COL6A3):c.8464+11C>T
|
rs770508359
|
0.00017
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)
|
rs200626456
|
0.00017
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
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_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)
|
rs571488000
|
0.00016
|
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)
|
rs145527336
|
0.00016
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
0.00016
|
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met)
|
rs142432514
|
0.00016
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00016
|
NM_001849.4(COL6A2):c.942C>T (p.Ala314=)
|
rs531713008
|
0.00016
|
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser)
|
rs372022185
|
0.00016
|
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)
|
rs146291186
|
0.00016
|
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)
|
rs369810455
|
0.00016
|
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)
|
rs151021451
|
0.00016
|
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=)
|
rs1460616364
|
0.00016
|
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
|
rs36020669
|
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_001849.4(COL6A2):c.1816+16C>T
|
rs545974833
|
0.00015
|
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)
|
rs142065958
|
0.00015
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.2349G>T (p.Arg783=)
|
rs373511343
|
0.00014
|
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)
|
rs200959957
|
0.00014
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
NM_001849.4(COL6A2):c.186C>A (p.Pro62=)
|
rs762050166
|
0.00014
|
NM_001849.4(COL6A2):c.1970-13G>A
|
rs369943351
|
0.00014
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
NM_001849.4(COL6A2):c.624G>A (p.Pro208=)
|
rs146333253
|
0.00014
|
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)
|
rs370719148
|
0.00014
|
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His)
|
rs115065877
|
0.00014
|
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)
|
rs372154635
|
0.00014
|
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=)
|
rs144834964
|
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_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00013
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
NM_004369.4(COL6A3):c.7175-11A>G
|
rs373913396
|
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_001849.4(COL6A2):c.1621G>A (p.Asp541Asn)
|
rs138276378
|
0.00012
|
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys)
|
rs771886065
|
0.00012
|
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp)
|
rs777822883
|
0.00012
|
NM_001849.4(COL6A2):c.2748C>T (p.His916=)
|
rs372206114
|
0.00012
|
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)
|
rs141579198
|
0.00012
|
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)
|
rs199955442
|
0.00012
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)
|
rs369449472
|
0.00012
|
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp)
|
rs143074017
|
0.00012
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00012
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
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.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_001849.4(COL6A2):c.2293G>A (p.Glu765Lys)
|
rs369344885
|
0.00011
|
NM_001849.4(COL6A2):c.2628C>T (p.Arg876=)
|
rs372413216
|
0.00011
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00011
|
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)
|
rs145352569
|
0.00011
|
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)
|
rs115297652
|
0.00011
|
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=)
|
rs144612879
|
0.00011
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)
|
rs773673162
|
0.00011
|
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile)
|
rs369537287
|
0.00011
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=)
|
rs143006225
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)
|
rs376567898
|
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_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=)
|
rs746339542
|
0.00010
|
NM_001849.4(COL6A2):c.2817C>T (p.His939=)
|
rs368164391
|
0.00010
|
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu)
|
rs756253502
|
0.00010
|
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)
|
rs143891262
|
0.00010
|
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)
|
rs780353083
|
0.00010
|
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu)
|
rs115881121
|
0.00010
|
NM_004369.4(COL6A3):c.186A>G (p.Leu62=)
|
rs773733833
|
0.00010
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His)
|
rs751772951
|
0.00010
|
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val)
|
rs778808432
|
0.00010
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu)
|
rs113896755
|
0.00010
|
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)
|
rs376021820
|
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.2352C>T (p.Pro784=)
|
rs377558756
|
0.00009
|
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=)
|
rs771446601
|
0.00009
|
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)
|
rs370889024
|
0.00009
|
NM_001848.3(COL6A1):c.609C>T (p.Ile203=)
|
rs369590506
|
0.00009
|
NM_001849.4(COL6A2):c.116-6C>T
|
rs761805565
|
0.00009
|
NM_001849.4(COL6A2):c.120G>A (p.Lys40=)
|
rs200025682
|
0.00009
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)
|
rs557865000
|
0.00009
|
NM_001849.4(COL6A2):c.22G>A (p.Val8Met)
|
rs192476178
|
0.00009
|
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)
|
rs368160013
|
0.00009
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met)
|
rs140020002
|
0.00009
|
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=)
|
rs201635208
|
0.00009
|
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys)
|
rs374504636
|
0.00009
|
NM_001849.4(COL6A2):c.855+19C>T
|
rs373366455
|
0.00009
|
NM_001849.4(COL6A2):c.855+8T>C
|
rs370008311
|
0.00009
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=)
|
rs145586177
|
0.00009
|
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His)
|
rs199601240
|
0.00009
|
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg)
|
rs755587601
|
0.00009
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)
|
rs563530370
|
0.00009
|
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)
|
rs763162762
|
0.00009
|
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)
|
rs199632952
|
0.00009
|
NM_004369.4(COL6A3):c.5501-17G>A
|
rs200723656
|
0.00009
|
NM_004369.4(COL6A3):c.552G>A (p.Ala184=)
|
rs542204130
|
0.00009
|
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His)
|
rs368379003
|
0.00009
|
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met)
|
rs143389941
|
0.00009
|
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=)
|
rs149151423
|
0.00009
|
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp)
|
rs201938007
|
0.00009
|
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)
|
rs200239695
|
0.00009
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
NM_004369.4(COL6A3):c.6211-13T>C
|
rs751001881
|
0.00009
|
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)
|
rs114248590
|
0.00009
|
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=)
|
rs768794876
|
0.00009
|
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=)
|
rs149403952
|
0.00009
|
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=)
|
rs138683303
|
0.00009
|
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)
|
rs115729513
|
0.00009
|
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)
|
rs147533489
|
0.00009
|
NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn)
|
rs756884829
|
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_001849.4(COL6A2):c.1459-13C>T
|
rs370542209
|
0.00008
|
NM_001849.4(COL6A2):c.1671+12C>T
|
rs369570961
|
0.00008
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=)
|
rs530866573
|
0.00008
|
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)
|
rs779242861
|
0.00008
|
NM_001849.4(COL6A2):c.672C>T (p.Thr224=)
|
rs759388890
|
0.00008
|
NM_001849.4(COL6A2):c.735+9C>T
|
rs377121540
|
0.00008
|
NM_001849.4(COL6A2):c.945C>T (p.Asp315=)
|
rs549800720
|
0.00008
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)
|
rs572969883
|
0.00008
|
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile)
|
rs751459281
|
0.00008
|
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=)
|
rs369620378
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=)
|
rs148877230
|
0.00008
|
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=)
|
rs368711215
|
0.00008
|
NM_004369.4(COL6A3):c.6627+18C>A
|
rs778048349
|
0.00008
|
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=)
|
rs778691629
|
0.00008
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn)
|
rs747588645
|
0.00008
|
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=)
|
rs571287679
|
0.00008
|
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)
|
rs141050617
|
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.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.759+20C>T
|
rs555848716
|
0.00007
|
NM_001848.3(COL6A1):c.780G>A (p.Gly260=)
|
rs143396975
|
0.00007
|
NM_001849.4(COL6A2):c.1333-15C>T
|
rs759266010
|
0.00007
|
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=)
|
rs139571947
|
0.00007
|
NM_001849.4(COL6A2):c.1969+10G>C
|
rs201259184
|
0.00007
|
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=)
|
rs199499499
|
0.00007
|
NM_001849.4(COL6A2):c.2462-20G>A
|
rs559932204
|
0.00007
|
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser)
|
rs373862445
|
0.00007
|
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)
|
rs373813975
|
0.00007
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His)
|
rs776329513
|
0.00007
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile)
|
rs111584250
|
0.00007
|
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)
|
rs112172548
|
0.00007
|
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe)
|
rs779028054
|
0.00007
|
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)
|
rs140863092
|
0.00007
|
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)
|
rs149838946
|
0.00007
|
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=)
|
rs374885393
|
0.00007
|
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=)
|
rs748590690
|
0.00007
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)
|
rs550085228
|
0.00007
|
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)
|
rs777496872
|
0.00007
|
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.1611+20C>T
|
rs369940697
|
0.00006
|
NM_001848.3(COL6A1):c.1740+13G>T
|
rs758377899
|
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.2157G>A (p.Pro719=)
|
rs377152990
|
0.00006
|
NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys)
|
rs398123635
|
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.261C>T (p.Asn87=)
|
rs770671793
|
0.00006
|
NM_001848.3(COL6A1):c.2745C>T (p.Asp915=)
|
rs751865624
|
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.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.739-5C>G
|
rs369946755
|
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_001849.4(COL6A2):c.1348G>C (p.Glu450Gln)
|
rs757846451
|
0.00006
|
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys)
|
rs143338050
|
0.00006
|
NM_001849.4(COL6A2):c.1671+17C>T
|
rs372188653
|
0.00006
|
NM_001849.4(COL6A2):c.1671+18G>A
|
rs202115968
|
0.00006
|
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser)
|
rs140097446
|
0.00006
|
NM_001849.4(COL6A2):c.196C>T (p.Leu66=)
|
rs201055113
|
0.00006
|
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)
|
rs146323303
|
0.00006
|
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=)
|
rs373514837
|
0.00006
|
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)
|
rs377376395
|
0.00006
|
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=)
|
rs535581551
|
0.00006
|
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=)
|
rs373731822
|
0.00006
|
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=)
|
rs771772739
|
0.00006
|
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=)
|
rs149697707
|
0.00006
|
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=)
|
rs144475977
|
0.00006
|
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)
|
rs886043283
|
0.00006
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)
|
rs139116075
|
0.00006
|
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=)
|
rs765055618
|
0.00006
|
NM_001849.4(COL6A2):c.2874C>T (p.His958=)
|
rs765550338
|
0.00006
|
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=)
|
rs369756029
|
0.00006
|
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)
|
rs145959270
|
0.00006
|
NM_001849.4(COL6A2):c.2994C>T (p.His998=)
|
rs376362856
|
0.00006
|
NM_001849.4(COL6A2):c.402C>T (p.Thr134=)
|
rs201221113
|
0.00006
|
NM_001849.4(COL6A2):c.525G>A (p.Leu175=)
|
rs754034094
|
0.00006
|
NM_001849.4(COL6A2):c.856-14G>A
|
rs759917394
|
0.00006
|
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)
|
rs149330325
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=)
|
rs142876356
|
0.00006
|
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)
|
rs147897225
|
0.00006
|
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=)
|
rs550122375
|
0.00006
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys)
|
rs114852262
|
0.00006
|
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=)
|
rs111328076
|
0.00006
|
NM_004369.4(COL6A3):c.3679+17T>G
|
rs553819631
|
0.00006
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn)
|
rs752977410
|
0.00006
|
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)
|
rs147701785
|
0.00006
|
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)
|
rs764225803
|
0.00006
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
NM_004369.4(COL6A3):c.4900+10G>A
|
rs189411873
|
0.00006
|
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)
|
rs114131542
|
0.00006
|
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)
|
rs760603443
|
0.00006
|
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln)
|
rs374825188
|
0.00006
|
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp)
|
rs148252611
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe)
|
rs768564642
|
0.00006
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)
|
rs748491825
|
0.00006
|
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=)
|
rs751580746
|
0.00006
|
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)
|
rs116655315
|
0.00006
|
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=)
|
rs182068143
|
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.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_001849.4(COL6A2):c.139G>A (p.Val47Met)
|
rs370171967
|
0.00005
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
NM_001849.4(COL6A2):c.1608+15T>A
|
rs759865245
|
0.00005
|
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)
|
rs754196388
|
0.00005
|
NM_001849.4(COL6A2):c.1771-13G>A
|
rs376708282
|
0.00005
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)
|
rs145450812
|
0.00005
|
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=)
|
rs188508745
|
0.00005
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=)
|
rs201571249
|
0.00005
|
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=)
|
rs200386811
|
0.00005
|
NM_001849.4(COL6A2):c.2462-13C>T
|
rs533454494
|
0.00005
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=)
|
rs748286207
|
0.00005
|
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=)
|
rs758646770
|
0.00005
|
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=)
|
rs369129061
|
0.00005
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
0.00005
|
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn)
|
rs372431744
|
0.00005
|
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
|
rs369025432
|
0.00005
|
NM_001849.4(COL6A2):c.536G>A (p.Arg179Gln)
|
rs376139670
|
0.00005
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
NM_001849.4(COL6A2):c.736-7G>A
|
rs375288629
|
0.00005
|
NM_001849.4(COL6A2):c.999+15G>A
|
rs372055794
|
0.00005
|
NM_004369.4(COL6A3):c.1312+7A>G
|
rs949869773
|
0.00005
|
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)
|
rs111295967
|
0.00005
|
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val)
|
rs372114508
|
0.00005
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr)
|
rs201722265
|
0.00005
|
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)
|
rs112540218
|
0.00005
|
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly)
|
rs768711436
|
0.00005
|
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)
|
rs113251155
|
0.00005
|
NM_004369.4(COL6A3):c.6355-4G>T
|
rs755204422
|
0.00005
|
NM_004369.4(COL6A3):c.6408+16C>T
|
rs531635518
|
0.00005
|
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=)
|
rs149697986
|
0.00005
|
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala)
|
rs111927395
|
0.00005
|
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=)
|
rs369335838
|
0.00005
|
NM_004369.4(COL6A3):c.7668+16G>A
|
rs746169209
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=)
|
rs770214487
|
0.00005
|
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)
|
rs761653490
|
0.00005
|
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly)
|
rs537189097
|
0.00005
|
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)
|
rs199680718
|
0.00005
|
NM_004369.4(COL6A3):c.966C>T (p.Ile322=)
|
rs369160080
|
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.1336-12G>A
|
rs746917431
|
0.00004
|
NM_001848.3(COL6A1):c.1336-18C>T
|
rs201516559
|
0.00004
|
NM_001848.3(COL6A1):c.1458C>T (p.Ser486=)
|
rs377137616
|
0.00004
|
NM_001848.3(COL6A1):c.1554C>T (p.Thr518=)
|
rs9637170
|
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.1675-15G>A
|
rs763344899
|
0.00004
|
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
|
rs201227573
|
0.00004
|
NM_001848.3(COL6A1):c.1741-13G>A
|
rs201063714
|
0.00004
|
NM_001848.3(COL6A1):c.1814-8C>T
|
rs777017599
|
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.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
NM_001848.3(COL6A1):c.228-17G>A
|
rs528620355
|
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.2853G>A (p.Thr951=)
|
rs890068806
|
0.00004
|
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=)
|
rs369948305
|
0.00004
|
NM_001848.3(COL6A1):c.329G>A (p.Arg110His)
|
rs773139115
|
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.763G>A (p.Ala255Thr)
|
rs145473829
|
0.00004
|
NM_001848.3(COL6A1):c.931-18C>T
|
rs755738565
|
0.00004
|
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His)
|
rs760872485
|
0.00004
|
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=)
|
rs766157503
|
0.00004
|
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys)
|
rs142880107
|
0.00004
|
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=)
|
rs377210303
|
0.00004
|
NM_001849.4(COL6A2):c.1771-14C>T
|
rs200727166
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001849.4(COL6A2):c.1970-15G>A
|
rs372285273
|
0.00004
|
NM_001849.4(COL6A2):c.1970-20C>T
|
rs568102534
|
0.00004
|
NM_001849.4(COL6A2):c.1970-8G>C
|
rs771873003
|
0.00004
|
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=)
|
rs776187095
|
0.00004
|
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)
|
rs370558215
|
0.00004
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn)
|
rs372936386
|
0.00004
|
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)
|
rs761913437
|
0.00004
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met)
|
rs376841327
|
0.00004
|
NM_001849.4(COL6A2):c.249C>T (p.Asn83=)
|
rs151032529
|
0.00004
|
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)
|
rs772005975
|
0.00004
|
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp)
|
rs759689002
|
0.00004
|
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)
|
rs200488881
|
0.00004
|
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=)
|
rs376791811
|
0.00004
|
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=)
|
rs374163190
|
0.00004
|
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)
|
rs757818559
|
0.00004
|
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn)
|
rs773407652
|
0.00004
|
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=)
|
rs139814466
|
0.00004
|
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=)
|
rs764590595
|
0.00004
|
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=)
|
rs746012569
|
0.00004
|
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys)
|
rs373392391
|
0.00004
|
NM_001849.4(COL6A2):c.411G>A (p.Ala137=)
|
rs528885146
|
0.00004
|
NM_001849.4(COL6A2):c.472G>A (p.Val158Met)
|
rs201792591
|
0.00004
|
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)
|
rs760509198
|
0.00004
|
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)
|
rs754048358
|
0.00004
|
NM_001849.4(COL6A2):c.642C>T (p.Asn214=)
|
rs781584161
|
0.00004
|
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)
|
rs530625182
|
0.00004
|
NM_001849.4(COL6A2):c.714+10G>A
|
rs777394169
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu)
|
rs150057026
|
0.00004
|
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu)
|
rs778546141
|
0.00004
|
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=)
|
rs775821966
|
0.00004
|
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser)
|
rs200250810
|
0.00004
|
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=)
|
rs756709812
|
0.00004
|
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr)
|
rs372255458
|
0.00004
|
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys)
|
rs137923508
|
0.00004
|
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)
|
rs762162177
|
0.00004
|
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)
|
rs144514259
|
0.00004
|
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser)
|
rs150008830
|
0.00004
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=)
|
rs556079869
|
0.00004
|
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)
|
rs369814614
|
0.00004
|
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=)
|
rs760857131
|
0.00004
|
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=)
|
rs749992393
|
0.00004
|
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=)
|
rs1347948544
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=)
|
rs774059985
|
0.00004
|
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)
|
rs775536678
|
0.00004
|
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys)
|
rs774406266
|
0.00004
|
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=)
|
rs777242754
|
0.00004
|
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)
|
rs200860322
|
0.00004
|
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=)
|
rs368285658
|
0.00004
|
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met)
|
rs774764179
|
0.00004
|
NM_004369.4(COL6A3):c.354T>G (p.Thr118=)
|
rs751592191
|
0.00004
|
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)
|
rs150548221
|
0.00004
|
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=)
|
rs763648429
|
0.00004
|
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=)
|
rs776983763
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=)
|
rs761804539
|
0.00004
|
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met)
|
rs368928992
|
0.00004
|
NM_004369.4(COL6A3):c.4285+13C>T
|
rs368338594
|
0.00004
|
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=)
|
rs151289203
|
0.00004
|
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met)
|
rs374493032
|
0.00004
|
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys)
|
rs752225290
|
0.00004
|
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)
|
rs199759398
|
0.00004
|
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His)
|
rs368151192
|
0.00004
|
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=)
|
rs766930229
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser)
|
rs192930227
|
0.00004
|
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=)
|
rs140699766
|
0.00004
|
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=)
|
rs567112070
|
0.00004
|
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=)
|
rs760201640
|
0.00004
|
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val)
|
rs772890888
|
0.00004
|
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=)
|
rs116565519
|
0.00004
|
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His)
|
rs371441617
|
0.00004
|
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=)
|
rs114357878
|
0.00004
|
NM_004369.4(COL6A3):c.5500+15G>A
|
rs372876170
|
0.00004
|
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=)
|
rs751159969
|
0.00004
|
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu)
|
rs376002858
|
0.00004
|
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)
|
rs370806359
|
0.00004
|
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg)
|
rs554219567
|
0.00004
|
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=)
|
rs375668409
|
0.00004
|
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His)
|
rs185047948
|
0.00004
|
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val)
|
rs751370730
|
0.00004
|
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)
|
rs377074792
|
0.00004
|
NM_004369.4(COL6A3):c.6354+18A>C
|
rs774579188
|
0.00004
|
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala)
|
rs540633944
|
0.00004
|
NM_004369.4(COL6A3):c.6471+20C>T
|
rs370407313
|
0.00004
|
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=)
|
rs374952003
|
0.00004
|
NM_004369.4(COL6A3):c.6879+15C>T
|
rs368631950
|
0.00004
|
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=)
|
rs746697715
|
0.00004
|
NM_004369.4(COL6A3):c.6931-6T>C
|
rs376338674
|
0.00004
|
NM_004369.4(COL6A3):c.6967-15C>T
|
rs112451272
|
0.00004
|
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)
|
rs201467603
|
0.00004
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)
|
rs769072338
|
0.00004
|
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln)
|
rs115863049
|
0.00004
|
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=)
|
rs751294512
|
0.00004
|
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)
|
rs140021275
|
0.00004
|
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr)
|
rs776220123
|
0.00004
|
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala)
|
rs767471920
|
0.00004
|
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly)
|
rs772602377
|
0.00004
|
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=)
|
rs113754336
|
0.00004
|
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)
|
rs746608405
|
0.00004
|
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser)
|
rs756294311
|
0.00004
|
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=)
|
rs754977455
|
0.00004
|
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)
|
rs375442243
|
0.00004
|
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)
|
rs374628435
|
0.00004
|
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=)
|
rs765101399
|
0.00004
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)
|
rs537511128
|
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.1521A>G (p.Glu507=)
|
rs781233511
|
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.2019C>T (p.His673=)
|
rs141424786
|
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.262G>A (p.Ala88Thr)
|
rs540429266
|
0.00003
|
NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn)
|
rs763910773
|
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.3043G>A (p.Gly1015Ser)
|
rs763470078
|
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.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_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
NM_001849.4(COL6A2):c.1180-12C>T
|
rs1189408610
|
0.00003
|
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)
|
rs762490709
|
0.00003
|
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=)
|
rs755258603
|
0.00003
|
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)
|
rs750842859
|
0.00003
|
NM_001849.4(COL6A2):c.1395+9G>C
|
rs747883263
|
0.00003
|
NM_001849.4(COL6A2):c.1522-7C>T
|
rs200501842
|
0.00003
|
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His)
|
rs781676156
|
0.00003
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
NM_001849.4(COL6A2):c.1671+13G>A
|
rs756078022
|
0.00003
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met)
|
rs149731632
|
0.00003
|
NM_001849.4(COL6A2):c.1809G>A (p.Gly603=)
|
rs767902639
|
0.00003
|
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)
|
rs758550765
|
0.00003
|
NM_001849.4(COL6A2):c.1872G>A (p.Glu624=)
|
rs147566231
|
0.00003
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
NM_001849.4(COL6A2):c.2235G>T (p.Arg745=)
|
rs773668391
|
0.00003
|
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=)
|
rs377458657
|
0.00003
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
NM_001849.4(COL6A2):c.2461+10G>A
|
rs777710817
|
0.00003
|
NM_001849.4(COL6A2):c.2461+16C>T
|
rs769731536
|
0.00003
|
NM_001849.4(COL6A2):c.2462-17C>T
|
rs1368389922
|
0.00003
|
NM_001849.4(COL6A2):c.2462-5C>T
|
rs760890154
|
0.00003
|
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)
|
rs374166613
|
0.00003
|
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=)
|
rs1474756520
|
0.00003
|
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=)
|
rs139798208
|
0.00003
|
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
|
rs372523558
|
0.00003
|
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)
|
rs752243349
|
0.00003
|
NM_001849.4(COL6A2):c.333G>A (p.Pro111=)
|
rs370531466
|
0.00003
|
NM_001849.4(COL6A2):c.471C>T (p.Ala157=)
|
rs372298335
|
0.00003
|
NM_001849.4(COL6A2):c.522G>A (p.Lys174=)
|
rs554016354
|
0.00003
|
NM_001849.4(COL6A2):c.720C>T (p.His240=)
|
rs763803023
|
0.00003
|
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)
|
rs200824569
|
0.00003
|
NM_001849.4(COL6A2):c.879C>T (p.Pro293=)
|
rs138389174
|
0.00003
|
NM_001849.4(COL6A2):c.903C>T (p.Gly301=)
|
rs541325013
|
0.00003
|
NM_001849.4(COL6A2):c.999+14C>T
|
rs761013382
|
0.00003
|
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)
|
rs759280111
|
0.00003
|
NM_004369.4(COL6A3):c.1506T>C (p.His502=)
|
rs770990749
|
0.00003
|
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=)
|
rs771948237
|
0.00003
|
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=)
|
rs535142787
|
0.00003
|
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr)
|
rs150377792
|
0.00003
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
NM_004369.4(COL6A3):c.1898-5T>C
|
rs373563217
|
0.00003
|
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys)
|
rs368161217
|
0.00003
|
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)
|
rs748641277
|
0.00003
|
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)
|
rs529827991
|
0.00003
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
NM_004369.4(COL6A3):c.249C>T (p.Phe83=)
|
rs758434537
|
0.00003
|
NM_004369.4(COL6A3):c.252C>T (p.Asn84=)
|
rs765786832
|
0.00003
|
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=)
|
rs367991818
|
0.00003
|
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)
|
rs762584015
|
0.00003
|
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
|
rs374447921
|
0.00003
|
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu)
|
rs75071027
|
0.00003
|
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=)
|
rs778039312
|
0.00003
|
NM_004369.4(COL6A3):c.3680-18C>G
|
rs528379574
|
0.00003
|
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=)
|
rs113247852
|
0.00003
|
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr)
|
rs761799119
|
0.00003
|
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=)
|
rs777277026
|
0.00003
|
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=)
|
rs763164666
|
0.00003
|
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala)
|
rs760059705
|
0.00003
|
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg)
|
rs755091615
|
0.00003
|
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)
|
rs142938239
|
0.00003
|
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=)
|
rs528204718
|
0.00003
|
NM_004369.4(COL6A3):c.4285+14G>A
|
rs373893821
|
0.00003
|
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=)
|
rs751433682
|
0.00003
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile)
|
rs536452909
|
0.00003
|
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val)
|
rs759366102
|
0.00003
|
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val)
|
rs111389165
|
0.00003
|
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=)
|
rs773082911
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=)
|
rs759756382
|
0.00003
|
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=)
|
rs752102793
|
0.00003
|
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)
|
rs886043180
|
0.00003
|
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=)
|
rs751915461
|
0.00003
|
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=)
|
rs752905591
|
0.00003
|
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln)
|
rs780489910
|
0.00003
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
NM_004369.4(COL6A3):c.6157-17C>T
|
rs199764618
|
0.00003
|
NM_004369.4(COL6A3):c.624C>T (p.Asp208=)
|
rs757316338
|
0.00003
|
NM_004369.4(COL6A3):c.6282+7C>T
|
rs779630783
|
0.00003
|
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)
|
rs768565928
|
0.00003
|
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=)
|
rs199869924
|
0.00003
|
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=)
|
rs765837100
|
0.00003
|
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=)
|
rs538533719
|
0.00003
|
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)
|
rs141586922
|
0.00003
|
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=)
|
rs762210213
|
0.00003
|
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=)
|
rs569662223
|
0.00003
|
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile)
|
rs527516269
|
0.00003
|
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=)
|
rs749750613
|
0.00003
|
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn)
|
rs755138368
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004369.4(COL6A3):c.774C>T (p.Phe258=)
|
rs766589204
|
0.00003
|
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val)
|
rs777305410
|
0.00003
|
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn)
|
rs765014790
|
0.00003
|
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)
|
rs398124135
|
0.00003
|
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)
|
rs373108028
|
0.00003
|
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)
|
rs115116398
|
0.00003
|
NM_004369.4(COL6A3):c.8464+20G>C
|
rs398124136
|
0.00003
|
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)
|
rs779335085
|
0.00003
|
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=)
|
rs1417532835
|
0.00003
|
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile)
|
rs765812583
|
0.00003
|
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser)
|
rs992204564
|
0.00003
|
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=)
|
rs199936838
|
0.00003
|
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=)
|
rs113721676
|
0.00003
|
NM_004369.4(COL6A3):c.91+16G>A
|
rs747662761
|
0.00003
|
NM_004369.4(COL6A3):c.936C>T (p.Leu312=)
|
rs377629176
|
0.00003
|
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=)
|
rs757091142
|
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.1227G>A (p.Ala409=)
|
rs557250335
|
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.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.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.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.2464+12G>A
|
rs757572847
|
0.00002
|
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)
|
rs794727582
|
0.00002
|
NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val)
|
rs766944483
|
0.00002
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn)
|
rs149331149
|
0.00002
|
NM_001848.3(COL6A1):c.2751C>T (p.Asn917=)
|
rs767760988
|
0.00002
|
NM_001848.3(COL6A1):c.2832T>C (p.Asp944=)
|
rs779665693
|
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.2952C>T (p.Arg984=)
|
rs770653887
|
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.312G>A (p.Thr104=)
|
rs1364102125
|
0.00002
|
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)
|
rs1309822720
|
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.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_001849.4(COL6A2):c.1000-6C>T
|
rs761428568
|
0.00002
|
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=)
|
rs760596115
|
0.00002
|
NM_001849.4(COL6A2):c.1053+10G>A
|
rs377311004
|
0.00002
|
NM_001849.4(COL6A2):c.1117-14G>A
|
rs768473305
|
0.00002
|
NM_001849.4(COL6A2):c.115+20G>A
|
rs767925731
|
0.00002
|
NM_001849.4(COL6A2):c.123C>T (p.Thr41=)
|
rs766840536
|
0.00002
|
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
|
rs200167715
|
0.00002
|
NM_001849.4(COL6A2):c.1270-16C>T
|
rs548690364
|
0.00002
|
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)
|
rs773161640
|
0.00002
|
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=)
|
rs767192013
|
0.00002
|
NM_001849.4(COL6A2):c.168C>T (p.Ser56=)
|
rs749106470
|
0.00002
|
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=)
|
rs748153892
|
0.00002
|
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys)
|
rs748283415
|
0.00002
|
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=)
|
rs143819480
|
0.00002
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
NM_001849.4(COL6A2):c.2055G>A (p.Ser685=)
|
rs752648726
|
0.00002
|
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=)
|
rs374795477
|
0.00002
|
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=)
|
rs200096552
|
0.00002
|
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=)
|
rs747494120
|
0.00002
|
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=)
|
rs771683876
|
0.00002
|
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)
|
rs759293889
|
0.00002
|
NM_001849.4(COL6A2):c.2349G>A (p.Val783=)
|
rs886044418
|
0.00002
|
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=)
|
rs745800327
|
0.00002
|
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr)
|
rs768339045
|
0.00002
|
NM_001849.4(COL6A2):c.273G>A (p.Ala91=)
|
rs753168760
|
0.00002
|
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)
|
rs886057168
|
0.00002
|
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His)
|
rs762812372
|
0.00002
|
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys)
|
rs372022187
|
0.00002
|
NM_001849.4(COL6A2):c.2892G>A (p.Met964Ile)
|
rs747174626
|
0.00002
|
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)
|
rs532656197
|
0.00002
|
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His)
|
rs376368468
|
0.00002
|
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile)
|
rs751410120
|
0.00002
|
NM_001849.4(COL6A2):c.735+10G>A
|
rs748325597
|
0.00002
|
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)
|
rs763922121
|
0.00002
|
NM_001849.4(COL6A2):c.900+13G>A
|
rs767295307
|
0.00002
|
NM_001849.4(COL6A2):c.928-10T>A
|
rs747608945
|
0.00002
|
NM_001849.4(COL6A2):c.93C>T (p.Thr31=)
|
rs953778915
|
0.00002
|
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)
|
rs547648292
|
0.00002
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln)
|
rs781231935
|
0.00002
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=)
|
rs749452623
|
0.00002
|
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile)
|
rs757748748
|
0.00002
|
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=)
|
rs763426415
|
0.00002
|
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=)
|
rs776665419
|
0.00002
|
NM_004369.4(COL6A3):c.1897+11G>A
|
rs780688368
|
0.00002
|
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=)
|
rs988504831
|
0.00002
|
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser)
|
rs750291186
|
0.00002
|
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)
|
rs760976593
|
0.00002
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00002
|
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr)
|
rs765006452
|
0.00002
|
NM_004369.4(COL6A3):c.237T>C (p.Ala79=)
|
rs747312241
|
0.00002
|
NM_004369.4(COL6A3):c.267C>T (p.Thr89=)
|
rs757243408
|
0.00002
|
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val)
|
rs115327470
|
0.00002
|
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)
|
rs115874872
|
0.00002
|
NM_004369.4(COL6A3):c.2907G>A (p.Val969=)
|
rs772894785
|
0.00002
|
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=)
|
rs145203676
|
0.00002
|
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)
|
rs758482171
|
0.00002
|
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu)
|
rs977976932
|
0.00002
|
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn)
|
rs760543147
|
0.00002
|
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=)
|
rs747436841
|
0.00002
|
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)
|
rs886042997
|
0.00002
|
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=)
|
rs1434102843
|
0.00002
|
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=)
|
rs1230310524
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)
|
rs541703064
|
0.00002
|
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=)
|
rs114110705
|
0.00002
|
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=)
|
rs200722316
|
0.00002
|
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)
|
rs774461787
|
0.00002
|
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)
|
rs371075249
|
0.00002
|
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu)
|
rs759004319
|
0.00002
|
NM_004369.4(COL6A3):c.462G>A (p.Ser154=)
|
rs773051161
|
0.00002
|
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala)
|
rs150972216
|
0.00002
|
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn)
|
rs904372024
|
0.00002
|
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)
|
rs766291321
|
0.00002
|
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)
|
rs768420468
|
0.00002
|
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=)
|
rs398124123
|
0.00002
|
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)
|
rs770825082
|
0.00002
|
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=)
|
rs777508994
|
0.00002
|
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His)
|
rs368635334
|
0.00002
|
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=)
|
rs771602562
|
0.00002
|
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=)
|
rs748005373
|
0.00002
|
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)
|
rs115320113
|
0.00002
|
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)
|
rs750063736
|
0.00002
|
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His)
|
rs142090771
|
0.00002
|
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)
|
rs886043269
|
0.00002
|
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
|
rs750889657
|
0.00002
|
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=)
|
rs560225578
|
0.00002
|
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys)
|
rs753307921
|
0.00002
|
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=)
|
rs375134458
|
0.00002
|
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=)
|
rs777752945
|
0.00002
|
NM_004369.4(COL6A3):c.6966+19G>T
|
rs369486630
|
0.00002
|
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
|
rs557578629
|
0.00002
|
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu)
|
rs377168716
|
0.00002
|
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=)
|
rs747377101
|
0.00002
|
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=)
|
rs1255913973
|
0.00002
|
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=)
|
rs1439207088
|
0.00002
|
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=)
|
rs150815991
|
0.00002
|
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=)
|
rs751097250
|
0.00002
|
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg)
|
rs571172347
|
0.00002
|
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe)
|
rs755107410
|
0.00002
|
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=)
|
rs113423040
|
0.00002
|
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)
|
rs749169391
|
0.00002
|
NM_004369.4(COL6A3):c.8464+12G>A
|
rs199707923
|
0.00002
|
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=)
|
rs936115881
|
0.00002
|
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=)
|
rs375994186
|
0.00002
|
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=)
|
rs751922269
|
0.00002
|
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)
|
rs757146083
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile)
|
rs776043658
|
0.00002
|
NM_004369.4(COL6A3):c.8966-20C>T
|
rs557787842
|
0.00002
|
NM_004369.4(COL6A3):c.92-12C>G
|
rs759990390
|
0.00002
|
NM_004369.4(COL6A3):c.9329-8T>C
|
rs770436782
|
0.00002
|
NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg)
|
rs751270381
|
0.00002
|
NM_004369.4(COL6A3):c.972C>T (p.Leu324=)
|
rs761334907
|
0.00002
|
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.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.1191G>A (p.Pro397=)
|
rs531640667
|
0.00001
|
NM_001848.3(COL6A1):c.1209C>T (p.Pro403=)
|
rs763249073
|
0.00001
|
NM_001848.3(COL6A1):c.1236+14C>T
|
rs372483312
|
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.1297C>T (p.Arg433Trp)
|
rs753297152
|
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.1488C>T (p.Ala496=)
|
rs776768334
|
0.00001
|
NM_001848.3(COL6A1):c.1525-9C>T
|
rs768508076
|
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.1675-10T>A
|
rs570045560
|
0.00001
|
NM_001848.3(COL6A1):c.1675-19C>T
|
rs372430900
|
0.00001
|
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)
|
rs763515261
|
0.00001
|
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=)
|
rs371878987
|
0.00001
|
NM_001848.3(COL6A1):c.1741-7C>T
|
rs771621923
|
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.1790T>G (p.Leu597Trp)
|
rs201365474
|
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.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.1956+16G>A
|
rs755009917
|
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.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.2147C>T (p.Pro716Leu)
|
rs755589190
|
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.2298A>G (p.Ser766=)
|
rs761665024
|
0.00001
|
NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro)
|
rs754399146
|
0.00001
|
NM_001848.3(COL6A1):c.2361G>A (p.Ser787=)
|
rs774817933
|
0.00001
|
NM_001848.3(COL6A1):c.2385G>A (p.Glu795=)
|
rs774423958
|
0.00001
|
NM_001848.3(COL6A1):c.2421C>T (p.Ala807=)
|
rs1472258951
|
0.00001
|
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe)
|
rs536370523
|
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.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.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.2896G>A (p.Gly966Ser)
|
rs1224432118
|
0.00001
|
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)
|
rs751518356
|
0.00001
|
NM_001848.3(COL6A1):c.330C>T (p.Arg110=)
|
rs564528164
|
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.454T>C (p.Tyr152His)
|
rs1286529045
|
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.641C>T (p.Thr214Met)
|
rs369123247
|
0.00001
|
NM_001848.3(COL6A1):c.642G>A (p.Thr214=)
|
rs529325521
|
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.813A>G (p.Arg271=)
|
rs748184568
|
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+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.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
|
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)
|
rs775751831
|
0.00001
|
NM_001849.4(COL6A2):c.1053+9C>T
|
rs781673478
|
0.00001
|
NM_001849.4(COL6A2):c.1054-10C>T
|
rs1456017785
|
0.00001
|
NM_001849.4(COL6A2):c.1054-7C>T
|
rs762738666
|
0.00001
|
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu)
|
rs767744331
|
0.00001
|
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=)
|
rs1381119779
|
0.00001
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=)
|
rs148423929
|
0.00001
|
NM_001849.4(COL6A2):c.1180-10C>T
|
rs777782503
|
0.00001
|
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=)
|
rs778836612
|
0.00001
|
NM_001849.4(COL6A2):c.1269+20_1269+21dup
|
rs762054025
|
0.00001
|
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile)
|
rs1381049424
|
0.00001
|
NM_001849.4(COL6A2):c.1332+10C>T
|
rs886042745
|
0.00001
|
NM_001849.4(COL6A2):c.1332+11G>A
|
rs915604664
|
0.00001
|
NM_001849.4(COL6A2):c.1332+11G>C
|
rs915604664
|
0.00001
|
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg)
|
rs886044030
|
0.00001
|
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=)
|
rs886044428
|
0.00001
|
NM_001849.4(COL6A2):c.1395+20C>T
|
rs374032380
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)
|
rs200482836
|
0.00001
|
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=)
|
rs774677437
|
0.00001
|
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=)
|
rs772436808
|
0.00001
|
NM_001849.4(COL6A2):c.1521+10C>G
|
rs753385303
|
0.00001
|
NM_001849.4(COL6A2):c.1522-12G>A
|
rs770511180
|
0.00001
|
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)
|
rs199842179
|
0.00001
|
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=)
|
rs779424467
|
0.00001
|
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)
|
rs367693258
|
0.00001
|
NM_001849.4(COL6A2):c.1596A>G (p.Pro532=)
|
rs1337532842
|
0.00001
|
NM_001849.4(COL6A2):c.1608+17G>A
|
rs748591526
|
0.00001
|
NM_001849.4(COL6A2):c.1609-17T>C
|
rs1188602280
|
0.00001
|
NM_001849.4(COL6A2):c.1609-20A>G
|
rs1291554758
|
0.00001
|
NM_001849.4(COL6A2):c.1609-7G>A
|
rs555312732
|
0.00001
|
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=)
|
rs774587547
|
0.00001
|
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=)
|
rs564536740
|
0.00001
|
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=)
|
rs189470660
|
0.00001
|
NM_001849.4(COL6A2):c.1734+14C>T
|
rs886057167
|
0.00001
|
NM_001849.4(COL6A2):c.1735-14C>T
|
rs762776002
|
0.00001
|
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=)
|
rs1158803111
|
0.00001
|
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=)
|
rs1422175519
|
0.00001
|
NM_001849.4(COL6A2):c.1770+11C>T
|
rs755518889
|
0.00001
|
NM_001849.4(COL6A2):c.1770+18C>T
|
rs1040827784
|
0.00001
|
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=)
|
rs751987553
|
0.00001
|
NM_001849.4(COL6A2):c.1816+9C>T
|
rs1456625954
|
0.00001
|
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
|
rs746193653
|
0.00001
|
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=)
|
rs770024474
|
0.00001
|
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=)
|
rs367857478
|
0.00001
|
NM_001849.4(COL6A2):c.1887C>T (p.Thr629=)
|
rs758542107
|
0.00001
|
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
|
rs554113319
|
0.00001
|
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met)
|
rs1032420539
|
0.00001
|
NM_001849.4(COL6A2):c.1970-16C>T
|
rs370331777
|
0.00001
|
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)
|
rs758788067
|
0.00001
|
NM_001849.4(COL6A2):c.1989G>A (p.Val663=)
|
rs944558259
|
0.00001
|
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)
|
rs138948335
|
0.00001
|
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=)
|
rs771823896
|
0.00001
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys)
|
rs763502626
|
0.00001
|
NM_001849.4(COL6A2):c.207C>T (p.His69=)
|
rs754275746
|
0.00001
|
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=)
|
rs763384399
|
0.00001
|
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=)
|
rs759188267
|
0.00001
|
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=)
|
rs764727296
|
0.00001
|
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=)
|
rs531816975
|
0.00001
|
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu)
|
rs746159648
|
0.00001
|
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=)
|
rs1345626063
|
0.00001
|
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=)
|
rs930056910
|
0.00001
|
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=)
|
rs367994212
|
0.00001
|
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=)
|
rs1487961328
|
0.00001
|
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=)
|
rs756575729
|
0.00001
|
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val)
|
rs202155540
|
0.00001
|
NM_001849.4(COL6A2):c.2412C>T (p.Val804=)
|
rs909940106
|
0.00001
|
NM_001849.4(COL6A2):c.2423-18C>T
|
rs866625140
|
0.00001
|
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)
|
rs776788517
|
0.00001
|
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)
|
rs746393019
|
0.00001
|
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=)
|
rs201518654
|
0.00001
|
NM_001849.4(COL6A2):c.2461+11G>A
|
rs200484565
|
0.00001
|
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)
|
rs1243558040
|
0.00001
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
NM_001849.4(COL6A2):c.2496G>A (p.Val832=)
|
rs567775494
|
0.00001
|
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His)
|
rs201035005
|
0.00001
|
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=)
|
rs546825359
|
0.00001
|
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg)
|
rs750318665
|
0.00001
|
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=)
|
rs753611948
|
0.00001
|
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=)
|
rs747734639
|
0.00001
|
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)
|
rs751630559
|
0.00001
|
NM_001849.4(COL6A2):c.2766G>A (p.Val922=)
|
rs557446829
|
0.00001
|
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=)
|
rs776437060
|
0.00001
|
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu)
|
rs780505425
|
0.00001
|
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=)
|
rs912421199
|
0.00001
|
NM_001849.4(COL6A2):c.2853C>A (p.Val951=)
|
rs745419873
|
0.00001
|
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=)
|
rs761975390
|
0.00001
|
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)
|
rs750097119
|
0.00001
|
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=)
|
rs759502409
|
0.00001
|
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile)
|
rs753423696
|
0.00001
|
NM_001849.4(COL6A2):c.2988G>A (p.Val996=)
|
rs1221541120
|
0.00001
|
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=)
|
rs780794521
|
0.00001
|
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val)
|
rs1157175258
|
0.00001
|
NM_001849.4(COL6A2):c.315G>A (p.Val105=)
|
rs1467107121
|
0.00001
|
NM_001849.4(COL6A2):c.33C>G (p.Leu11=)
|
rs765568801
|
0.00001
|
NM_001849.4(COL6A2):c.390C>T (p.Arg130=)
|
rs544610322
|
0.00001
|
NM_001849.4(COL6A2):c.408C>T (p.Cys136=)
|
rs745970130
|
0.00001
|
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)
|
rs749711324
|
0.00001
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
NM_001849.4(COL6A2):c.468C>T (p.Phe156=)
|
rs144117982
|
0.00001
|
NM_001849.4(COL6A2):c.498C>T (p.Thr166=)
|
rs762436629
|
0.00001
|
NM_001849.4(COL6A2):c.576C>T (p.Pro192=)
|
rs757571306
|
0.00001
|
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)
|
rs559666084
|
0.00001
|
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu)
|
rs1355259368
|
0.00001
|
NM_001849.4(COL6A2):c.714+14G>A
|
rs781213927
|
0.00001
|
NM_001849.4(COL6A2):c.726C>T (p.Ala242=)
|
rs767184248
|
0.00001
|
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)
|
rs199806576
|
0.00001
|
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr)
|
rs1354826916
|
0.00001
|
NM_001849.4(COL6A2):c.864G>A (p.Pro288=)
|
rs375307603
|
0.00001
|
NM_001849.4(COL6A2):c.924G>A (p.Glu308=)
|
rs142674726
|
0.00001
|
NM_001849.4(COL6A2):c.951C>T (p.Arg317=)
|
rs369190399
|
0.00001
|
NM_001849.4(COL6A2):c.955-10C>T
|
rs751105293
|
0.00001
|
NM_001849.4(COL6A2):c.955-17C>T
|
rs372393202
|
0.00001
|
NM_001849.4(COL6A2):c.955-6C>T
|
rs781214021
|
0.00001
|
NM_001849.4(COL6A2):c.978G>A (p.Lys326=)
|
rs1480541163
|
0.00001
|
NM_001849.4(COL6A2):c.987C>T (p.Thr329=)
|
rs748215430
|
0.00001
|
NM_001849.4(COL6A2):c.999+7G>A
|
rs199783099
|
0.00001
|
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)
|
rs745667305
|
0.00001
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=)
|
rs779564611
|
0.00001
|
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)
|
rs1416475329
|
0.00001
|
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg)
|
rs200795795
|
0.00001
|
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)
|
rs572020866
|
0.00001
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg)
|
rs778069171
|
0.00001
|
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=)
|
rs139016980
|
0.00001
|
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=)
|
rs1207676038
|
0.00001
|
NM_004369.4(COL6A3):c.117T>C (p.Asp39=)
|
rs1574757082
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=)
|
rs761005162
|
0.00001
|
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)
|
rs377757978
|
0.00001
|
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp)
|
rs752738273
|
0.00001
|
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr)
|
rs757316442
|
0.00001
|
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)
|
rs777693832
|
0.00001
|
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=)
|
rs773149146
|
0.00001
|
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=)
|
rs200205650
|
0.00001
|
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser)
|
rs756045079
|
0.00001
|
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn)
|
rs1291470412
|
0.00001
|
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=)
|
rs774234847
|
0.00001
|
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=)
|
rs138036318
|
0.00001
|
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=)
|
rs368242683
|
0.00001
|
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp)
|
rs111379417
|
0.00001
|
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)
|
rs777409908
|
0.00001
|
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn)
|
rs753557181
|
0.00001
|
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=)
|
rs970623100
|
0.00001
|
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=)
|
rs1166349776
|
0.00001
|
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=)
|
rs1204913393
|
0.00001
|
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=)
|
rs368826874
|
0.00001
|
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)
|
rs762752112
|
0.00001
|
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=)
|
rs780578768
|
0.00001
|
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr)
|
rs756337970
|
0.00001
|
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)
|
rs116753562
|
0.00001
|
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=)
|
rs759099641
|
0.00001
|
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=)
|
rs1038000360
|
0.00001
|
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu)
|
rs374774989
|
0.00001
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
0.00001
|
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=)
|
rs892390706
|
0.00001
|
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe)
|
rs1455744375
|
0.00001
|
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=)
|
rs376409920
|
0.00001
|
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=)
|
rs764115723
|
0.00001
|
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=)
|
rs919417658
|
0.00001
|
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr)
|
rs773999183
|
0.00001
|
NM_004369.4(COL6A3):c.2796T>C (p.Ala932=)
|
rs1158876557
|
0.00001
|
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=)
|
rs116256579
|
0.00001
|
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=)
|
rs886470638
|
0.00001
|
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=)
|
rs746610835
|
0.00001
|
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met)
|
rs769697782
|
0.00001
|
NM_004369.4(COL6A3):c.290G>A (p.Arg97His)
|
rs201249839
|
0.00001
|
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr)
|
rs768292803
|
0.00001
|
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)
|
rs140437593
|
0.00001
|
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=)
|
rs541545591
|
0.00001
|
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=)
|
rs745661734
|
0.00001
|
NM_004369.4(COL6A3):c.3070+4T>C
|
rs201456189
|
0.00001
|
NM_004369.4(COL6A3):c.3071-21_3071-18dup
|
rs1321741683
|
0.00001
|
NM_004369.4(COL6A3):c.3071-7C>G
|
rs370229367
|
0.00001
|
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=)
|
rs922629653
|
0.00001
|
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=)
|
rs372619164
|
0.00001
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=)
|
rs777909478
|
0.00001
|
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr)
|
rs369460632
|
0.00001
|
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=)
|
rs1022815311
|
0.00001
|
NM_004369.4(COL6A3):c.345C>A (p.Thr115=)
|
rs371958092
|
0.00001
|
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)
|
rs762152367
|
0.00001
|
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met)
|
rs727502838
|
0.00001
|
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=)
|
rs199998363
|
0.00001
|
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)
|
rs762240306
|
0.00001
|
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=)
|
rs757349824
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=)
|
rs150911180
|
0.00001
|
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=)
|
rs927612906
|
0.00001
|
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)
|
rs781735632
|
0.00001
|
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=)
|
rs886042792
|
0.00001
|
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu)
|
rs886043888
|
0.00001
|
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr)
|
rs779967310
|
0.00001
|
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile)
|
rs1220087503
|
0.00001
|
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu)
|
rs777759049
|
0.00001
|
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=)
|
rs765355858
|
0.00001
|
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)
|
rs766856187
|
0.00001
|
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=)
|
rs772443916
|
0.00001
|
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)
|
rs762544728
|
0.00001
|
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr)
|
rs745420792
|
0.00001
|
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp)
|
rs143819673
|
0.00001
|
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=)
|
rs777649526
|
0.00001
|
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)
|
rs779126378
|
0.00001
|
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val)
|
rs1167973119
|
0.00001
|
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu)
|
rs767829363
|
0.00001
|
NM_004369.4(COL6A3):c.420C>T (p.Asp140=)
|
rs909857244
|
0.00001
|
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg)
|
rs398124120
|
0.00001
|
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=)
|
rs565366400
|
0.00001
|
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)
|
rs539986030
|
0.00001
|
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=)
|
rs748103971
|
0.00001
|
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys)
|
rs768522226
|
0.00001
|
NM_004369.4(COL6A3):c.4285+7T>C
|
rs781660921
|
0.00001
|
NM_004369.4(COL6A3):c.4286-4G>A
|
rs779028717
|
0.00001
|
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val)
|
rs1335664006
|
0.00001
|
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=)
|
rs747160916
|
0.00001
|
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=)
|
rs779603740
|
0.00001
|
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)
|
rs114736729
|
0.00001
|
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=)
|
rs558665283
|
0.00001
|
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=)
|
rs749820906
|
0.00001
|
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys)
|
rs778816180
|
0.00001
|
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His)
|
rs754840728
|
0.00001
|
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=)
|
rs755902927
|
0.00001
|
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys)
|
rs113538665
|
0.00001
|
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=)
|
rs778335651
|
0.00001
|
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=)
|
rs1420997887
|
0.00001
|
NM_004369.4(COL6A3):c.465G>A (p.Lys155=)
|
rs771817420
|
0.00001
|
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys)
|
rs200825417
|
0.00001
|
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)
|
rs773979979
|
0.00001
|
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=)
|
rs774809714
|
0.00001
|
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met)
|
rs1211026126
|
0.00001
|
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu)
|
rs1190967394
|
0.00001
|
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu)
|
rs201532239
|
0.00001
|
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=)
|
rs199531763
|
0.00001
|
NM_004369.4(COL6A3):c.486A>G (p.Ser162=)
|
rs1477252497
|
0.00001
|
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)
|
rs149261556
|
0.00001
|
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=)
|
rs750374768
|
0.00001
|
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=)
|
rs767560639
|
0.00001
|
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=)
|
rs747509514
|
0.00001
|
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala)
|
rs752418797
|
0.00001
|
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=)
|
rs759703082
|
0.00001
|
NM_004369.4(COL6A3):c.522A>G (p.Ala174=)
|
rs1477904627
|
0.00001
|
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)
|
rs756781502
|
0.00001
|
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu)
|
rs777266074
|
0.00001
|
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu)
|
rs1271500443
|
0.00001
|
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg)
|
rs1375661246
|
0.00001
|
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=)
|
rs377249790
|
0.00001
|
NM_004369.4(COL6A3):c.5501-9C>A
|
rs1426149492
|
0.00001
|
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)
|
rs148488423
|
0.00001
|
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=)
|
rs114259747
|
0.00001
|
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys)
|
rs772269570
|
0.00001
|
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=)
|
rs886055807
|
0.00001
|
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=)
|
rs886055807
|
0.00001
|
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=)
|
rs886044430
|
0.00001
|
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=)
|
rs200999503
|
0.00001
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile)
|
rs778162038
|
0.00001
|
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=)
|
rs764231408
|
0.00001
|
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=)
|
rs555406717
|
0.00001
|
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=)
|
rs771317034
|
0.00001
|
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=)
|
rs113283088
|
0.00001
|
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=)
|
rs2077534219
|
0.00001
|
NM_004369.4(COL6A3):c.5838+7G>C
|
rs369931091
|
0.00001
|
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)
|
rs727503884
|
0.00001
|
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)
|
rs376548186
|
0.00001
|
NM_004369.4(COL6A3):c.6064-4G>A
|
rs762819140
|
0.00001
|
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=)
|
rs576524993
|
0.00001
|
NM_004369.4(COL6A3):c.6156+16C>T
|
rs779455691
|
0.00001
|
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=)
|
rs1172901266
|
0.00001
|
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=)
|
rs777351827
|
0.00001
|
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=)
|
rs777097924
|
0.00001
|
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=)
|
rs1156803322
|
0.00001
|
NM_004369.4(COL6A3):c.6282+9T>C
|
rs1038994935
|
0.00001
|
NM_004369.4(COL6A3):c.6283-15C>T
|
rs757187481
|
0.00001
|
NM_004369.4(COL6A3):c.6291G>T (p.Arg2097=)
|
rs761280470
|
0.00001
|
NM_004369.4(COL6A3):c.630A>G (p.Val210=)
|
rs914512334
|
0.00001
|
NM_004369.4(COL6A3):c.6354+16C>T
|
rs1314468175
|
0.00001
|
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)
|
rs894679602
|
0.00001
|
NM_004369.4(COL6A3):c.6471+8T>C
|
rs747540355
|
0.00001
|
NM_004369.4(COL6A3):c.6472-13A>G
|
rs1156922421
|
0.00001
|
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala)
|
rs774784273
|
0.00001
|
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)
|
rs776493521
|
0.00001
|
NM_004369.4(COL6A3):c.6691-8T>G
|
rs1308697483
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr)
|
rs745877985
|
0.00001
|
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=)
|
rs551512561
|
0.00001
|
NM_004369.4(COL6A3):c.6879+16G>A
|
rs915585400
|
0.00001
|
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=)
|
rs764508785
|
0.00001
|
NM_004369.4(COL6A3):c.6966+10C>G
|
rs995436631
|
0.00001
|
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=)
|
rs755565292
|
0.00001
|
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=)
|
rs773164702
|
0.00001
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=)
|
rs376714139
|
0.00001
|
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=)
|
rs1383762763
|
0.00001
|
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr)
|
rs1559271365
|
0.00001
|
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)
|
rs749446863
|
0.00001
|
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=)
|
rs749075993
|
0.00001
|
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=)
|
rs750552221
|
0.00001
|
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln)
|
rs753090057
|
0.00001
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
0.00001
|
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=)
|
rs752232293
|
0.00001
|
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val)
|
rs770214397
|
0.00001
|
NM_004369.4(COL6A3):c.7668+18G>A
|
rs1234167823
|
0.00001
|
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=)
|
rs756140209
|
0.00001
|
NM_004369.4(COL6A3):c.7766-14A>C
|
rs745793481
|
0.00001
|
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=)
|
rs535306425
|
0.00001
|
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=)
|
rs145136426
|
0.00001
|
NM_004369.4(COL6A3):c.807T>C (p.Leu269=)
|
rs776357610
|
0.00001
|
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp)
|
rs964222724
|
0.00001
|
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val)
|
rs1311630536
|
0.00001
|
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys)
|
rs368129741
|
0.00001
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=)
|
rs1338421880
|
0.00001
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
0.00001
|
NM_004369.4(COL6A3):c.837C>T (p.Ile279=)
|
rs772888162
|
0.00001
|
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=)
|
rs201460305
|
0.00001
|
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=)
|
rs572018781
|
0.00001
|
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)
|
rs775200499
|
0.00001
|
NM_004369.4(COL6A3):c.8465-20T>C
|
rs746788651
|
0.00001
|
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=)
|
rs748250269
|
0.00001
|
NM_004369.4(COL6A3):c.8568-9T>C
|
rs1369507012
|
0.00001
|
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)
|
rs759009226
|
0.00001
|
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=)
|
rs766330730
|
0.00001
|
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=)
|
rs768887961
|
0.00001
|
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr)
|
rs377528704
|
0.00001
|
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=)
|
rs114008087
|
0.00001
|
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala)
|
rs758363294
|
0.00001
|
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=)
|
rs201605617
|
0.00001
|
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)
|
rs557120711
|
0.00001
|
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys)
|
rs148318789
|
0.00001
|
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)
|
rs747642083
|
0.00001
|
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile)
|
rs769756403
|
0.00001
|
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser)
|
rs1162064854
|
0.00001
|
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met)
|
rs754218170
|
0.00001
|
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)
|
rs368568929
|
0.00001
|
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp)
|
rs149412478
|
0.00001
|
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr)
|
rs779867515
|
0.00001
|
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe)
|
rs112455407
|
0.00001
|
NM_004369.4(COL6A3):c.9328+8G>T
|
rs770383420
|
0.00001
|
NM_004369.4(COL6A3):c.9329-4A>T
|
rs199800564
|
0.00001
|
NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr)
|
rs1385929254
|
0.00001
|
NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)
|
rs769392747
|
0.00001
|
NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)
|
rs886044034
|
0.00001
|
NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=)
|
rs367728719
|
0.00001
|
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val)
|
rs773786663
|
0.00001
|
NM_004369.4(COL6A3):c.984C>T (p.Phe328=)
|
rs768609958
|
0.00001
|
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+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG
|
rs1569518218
|
|
NM_001848.3(COL6A1):c.1002+6_1002+88del
|
rs1556425727
|
|
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.1003-4C>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.1023C>T (p.Gly341=)
|
|
|
NM_001848.3(COL6A1):c.1029A>C (p.Pro343=)
|
rs1556425843
|
|
NM_001848.3(COL6A1):c.1037A>G (p.Lys346Arg)
|
|
|
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+9C>G
|
|
|
NM_001848.3(COL6A1):c.1068A>T (p.Gly356=)
|
rs1481098445
|
|
NM_001848.3(COL6A1):c.106G>A (p.Val36Met)
|
|
|
NM_001848.3(COL6A1):c.1074T>C (p.Pro358=)
|
rs2123473427
|
|
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
|
|
|
NM_001848.3(COL6A1):c.1119+14G>A
|
|
|
NM_001848.3(COL6A1):c.1119+16C>T
|
rs1370050036
|
|
NM_001848.3(COL6A1):c.1120-12G>T
|
|
|
NM_001848.3(COL6A1):c.1120-13C>T
|
|
|
NM_001848.3(COL6A1):c.1155A>G (p.Pro385=)
|
|
|
NM_001848.3(COL6A1):c.1167A>G (p.Gly389=)
|
|
|
NM_001848.3(COL6A1):c.1182+16G>T
|
rs2123474728
|
|
NM_001848.3(COL6A1):c.1182+17C>T
|
|
|
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.1206C>T (p.Pro402=)
|
|
|
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=)
|
rs763249073
|
|
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.1237-5C>T
|
|
|
NM_001848.3(COL6A1):c.1266G>A (p.Gly422=)
|
|
|
NM_001848.3(COL6A1):c.126G>A (p.Leu42=)
|
|
|
NM_001848.3(COL6A1):c.1272+12A>G
|
|
|
NM_001848.3(COL6A1):c.1272+13G>A
|
rs2123475135
|
|
NM_001848.3(COL6A1):c.1273-12C>G
|
|
|
NM_001848.3(COL6A1):c.1273-18C>G
|
|
|
NM_001848.3(COL6A1):c.1281T>C (p.Pro427=)
|
rs2123475470
|
|
NM_001848.3(COL6A1):c.1317G>A (p.Arg439=)
|
rs1569518379
|
|
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)
|
rs778234022
|
|
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.135T>C (p.Ser45=)
|
|
|
NM_001848.3(COL6A1):c.1398+18G>A
|
|
|
NM_001848.3(COL6A1):c.1399-10C>G
|
|
|
NM_001848.3(COL6A1):c.1399-17T>C
|
|
|
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.1431C>T (p.Tyr477=)
|
|
|
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.1485T>C (p.Pro495=)
|
|
|
NM_001848.3(COL6A1):c.1494C>A (p.Pro498=)
|
|
|
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=)
|
rs139987124
|
|
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.1525-18G>T
|
|
|
NM_001848.3(COL6A1):c.1525-20C>T
|
|
|
NM_001848.3(COL6A1):c.1537C>T (p.Pro513Ser)
|
rs1202320827
|
|
NM_001848.3(COL6A1):c.1575+11G>A
|
|
|
NM_001848.3(COL6A1):c.159G>A (p.Lys53=)
|
|
|
NM_001848.3(COL6A1):c.15T>A (p.Arg5=)
|
rs2123459083
|
|
NM_001848.3(COL6A1):c.1611+10C>T
|
|
|
NM_001848.3(COL6A1):c.1612-11C>T
|
rs370801259
|
|
NM_001848.3(COL6A1):c.1612-13C>T
|
|
|
NM_001848.3(COL6A1):c.1612-4G>A
|
|
|
NM_001848.3(COL6A1):c.1614C>T (p.Gly538=)
|
|
|
NM_001848.3(COL6A1):c.1645G>A (p.Glu549Lys)
|
|
|
NM_001848.3(COL6A1):c.1662C>T (p.Asp554=)
|
|
|
NM_001848.3(COL6A1):c.1674+15G>C
|
rs749423625
|
|
NM_001848.3(COL6A1):c.1674+7G>A
|
|
|
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=)
|
rs1603593356
|
|
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.1740+14G>T
|
|
|
NM_001848.3(COL6A1):c.1740+18G>A
|
rs376726434
|
|
NM_001848.3(COL6A1):c.1740+19G>A
|
|
|
NM_001848.3(COL6A1):c.1741-14C>T
|
rs201088377
|
|
NM_001848.3(COL6A1):c.1755C>T (p.His585=)
|
|
|
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.1813+12T>C
|
|
|
NM_001848.3(COL6A1):c.1813+13G>C
|
|
|
NM_001848.3(COL6A1):c.1813+20C>T
|
|
|
NM_001848.3(COL6A1):c.1814-15_1814-12del
|
rs1399956018
|
|
NM_001848.3(COL6A1):c.1814-6C>T
|
|
|
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.1823-14G>A
|
|
|
NM_001848.3(COL6A1):c.1827C>T (p.Cys609=)
|
|
|
NM_001848.3(COL6A1):c.1830G>A (p.Lys610=)
|
|
|
NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)
|
|
|
NM_001848.3(COL6A1):c.1840A>G (p.Ile614Val)
|
|
|
NM_001848.3(COL6A1):c.1843G>A (p.Asp615Asn)
|
|
|
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.1914C>T (p.Val638=)
|
rs867670442
|
|
NM_001848.3(COL6A1):c.1939C>T (p.Arg647Trp)
|
|
|
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>T (p.Phe653=)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln)
|
rs375318905
|
|
NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)
|
|
|
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=)
|
rs370780432
|
|
NM_001848.3(COL6A1):c.1989G>A (p.Val663=)
|
rs760624194
|
|
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.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.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.2067-15C>T
|
|
|
NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)
|
|
|
NM_001848.3(COL6A1):c.2118C>T (p.Ala706=)
|
rs2077850957
|
|
NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)
|
|
|
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.2190G>T (p.Gly730=)
|
|
|
NM_001848.3(COL6A1):c.2193C>T (p.Arg731=)
|
rs1025417641
|
|
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.2250+11C>T
|
|
|
NM_001848.3(COL6A1):c.2250+9G>A
|
rs1342014969
|
|
NM_001848.3(COL6A1):c.2251-16C>T
|
rs1243894570
|
|
NM_001848.3(COL6A1):c.227+16C>T
|
|
|
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)
|
rs886042688
|
|
NM_001848.3(COL6A1):c.2329C>T (p.Leu777=)
|
|
|
NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)
|
|
|
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)
|
rs886042391
|
|
NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)
|
|
|
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=)
|
rs1603594564
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC
|
|
|
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+45_2434+124del
|
rs2123491228
|
|
NM_001848.3(COL6A1):c.2434+45_2434+84del
|
|
|
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.2450A>G (p.Asp817Gly)
|
|
|
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=)
|
rs1182297662
|
|
NM_001848.3(COL6A1):c.2464+14C>T
|
|
|
NM_001848.3(COL6A1):c.2464+15G>A
|
rs753573923
|
|
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.2487C>T (p.Asp829=)
|
|
|
NM_001848.3(COL6A1):c.2511C>T (p.Ser837=)
|
|
|
NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)
|
|
|
NM_001848.3(COL6A1):c.2580C>T (p.Leu860=)
|
rs2123492588
|
|
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.2621C>T (p.Ala874Val)
|
|
|
NM_001848.3(COL6A1):c.2638G>C (p.Gly880Arg)
|
|
|
NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)
|
|
|
NM_001848.3(COL6A1):c.2680C>T (p.Leu894=)
|
rs1409263435
|
|
NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)
|
|
|
NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)
|
|
|
NM_001848.3(COL6A1):c.2766T>C (p.Tyr922=)
|
rs889975432
|
|
NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu)
|
rs144671871
|
|
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)
|
rs147882179
|
|
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)
|
rs763228065
|
|
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=)
|
rs769441014
|
|
NM_001848.3(COL6A1):c.288G>A (p.Glu96=)
|
|
|
NM_001848.3(COL6A1):c.2927G>A (p.Arg976His)
|
rs753485651
|
|
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
|
|
|
NM_001848.3(COL6A1):c.2973G>A (p.Thr991=)
|
|
|
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.3000G>A (p.Glu1000=)
|
|
|
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)
|
rs2077865473
|
|
NM_001848.3(COL6A1):c.3014G>C (p.Arg1005Pro)
|
|
|
NM_001848.3(COL6A1):c.3042C>A (p.Arg1014=)
|
|
|
NM_001848.3(COL6A1):c.3042C>T (p.Arg1014=)
|
|
|
NM_001848.3(COL6A1):c.3060A>G (p.Thr1020=)
|
rs953326229
|
|
NM_001848.3(COL6A1):c.314G>A (p.Arg105His)
|
|
|
NM_001848.3(COL6A1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001848.3(COL6A1):c.354C>T (p.Asp118=)
|
rs1569517713
|
|
NM_001848.3(COL6A1):c.36G>C (p.Leu12=)
|
rs2123459117
|
|
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.411G>A (p.Leu137=)
|
|
|
NM_001848.3(COL6A1):c.417G>A (p.Gln139=)
|
|
|
NM_001848.3(COL6A1):c.428+10C>T
|
rs1437662111
|
|
NM_001848.3(COL6A1):c.428+11C>T
|
|
|
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>T
|
|
|
NM_001848.3(COL6A1):c.472G>A (p.Asp158Asn)
|
|
|
NM_001848.3(COL6A1):c.477G>T (p.Gly159=)
|
|
|
NM_001848.3(COL6A1):c.513G>C (p.Gly171=)
|
rs1276849352
|
|
NM_001848.3(COL6A1):c.525T>A (p.Ala175=)
|
rs761552446
|
|
NM_001848.3(COL6A1):c.549C>A (p.Gly183=)
|
rs398123636
|
|
NM_001848.3(COL6A1):c.564G>A (p.Ser188=)
|
|
|
NM_001848.3(COL6A1):c.57G>T (p.Ala19=)
|
|
|
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.589-20A>C
|
|
|
NM_001848.3(COL6A1):c.589-8G>A
|
|
|
NM_001848.3(COL6A1):c.594G>C (p.Pro198=)
|
rs376592866
|
|
NM_001848.3(COL6A1):c.603C>T (p.Ser201=)
|
|
|
NM_001848.3(COL6A1):c.606C>T (p.Ile202=)
|
|
|
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.678G>A (p.Glu226=)
|
rs1370178953
|
|
NM_001848.3(COL6A1):c.699C>T (p.Asp233=)
|
rs2123466761
|
|
NM_001848.3(COL6A1):c.717+10C>T
|
|
|
NM_001848.3(COL6A1):c.718-11dup
|
rs778494336
|
|
NM_001848.3(COL6A1):c.718-20G>A
|
|
|
NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)
|
|
|
NM_001848.3(COL6A1):c.732G>A (p.Glu244=)
|
|
|
NM_001848.3(COL6A1):c.739-13T>C
|
rs2123467487
|
|
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.750C>T (p.Phe250=)
|
rs748153811
|
|
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.760-18G>A
|
|
|
NM_001848.3(COL6A1):c.760-19C>T
|
|
|
NM_001848.3(COL6A1):c.760-5T>G
|
rs1322851367
|
|
NM_001848.3(COL6A1):c.760-7C>T
|
rs2123467721
|
|
NM_001848.3(COL6A1):c.804+14C>T
|
|
|
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.821C>G (p.Pro274Arg)
|
rs201093313
|
|
NM_001848.3(COL6A1):c.849C>T (p.Ala283=)
|
rs1186770930
|
|
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+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.859-20_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.861A>G (p.Gly287=)
|
|
|
NM_001848.3(COL6A1):c.888G>A (p.Gly296=)
|
rs2123470925
|
|
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>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+20T>C
|
rs2123470996
|
|
NM_001848.3(COL6A1):c.903+20T>G
|
|
|
NM_001848.3(COL6A1):c.904-14C>T
|
|
|
NM_001848.3(COL6A1):c.904-18C>T
|
|
|
NM_001848.3(COL6A1):c.924G>A (p.Gly308=)
|
rs374654116
|
|
NM_001848.3(COL6A1):c.930+10G>A
|
rs772379034
|
|
NM_001848.3(COL6A1):c.930+19C>T
|
|
|
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.931-4G>T
|
rs758332867
|
|
NM_001848.3(COL6A1):c.931-8C>G
|
|
|
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.957+10G>A
|
|
|
NM_001848.3(COL6A1):c.958-11C>T
|
|
|
NM_001848.3(COL6A1):c.958-13T>G
|
rs1490319824
|
|
NM_001848.3(COL6A1):c.958-5C>T
|
|
|
NM_001848.3(COL6A1):c.97+12C>G
|
rs2077709554
|
|
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.987G>A (p.Gly329=)
|
|
|
NM_001848.3(COL6A1):c.9G>A (p.Ala3=)
|
rs369561233
|
|
NM_001849.4(COL6A2):c.1000-10T>C
|
rs1036136617
|
|
NM_001849.4(COL6A2):c.1000-13C>T
|
|
|
NM_001849.4(COL6A2):c.1000-14C>T
|
|
|
NM_001849.4(COL6A2):c.1000-15C>T
|
rs902044548
|
|
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=)
|
rs1568930411
|
|
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
|
|
|
NM_001849.4(COL6A2):c.1054-12C>T
|
|
|
NM_001849.4(COL6A2):c.1054-7C>G
|
rs762738666
|
|
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His)
|
rs188184732
|
|
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)
|
rs374673302
|
|
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
|
|
|
NM_001849.4(COL6A2):c.1117-4C>T
|
rs2123635658
|
|
NM_001849.4(COL6A2):c.1117-8C>T
|
rs1601231143
|
|
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=)
|
rs760861317
|
|
NM_001849.4(COL6A2):c.115+12C>T
|
|
|
NM_001849.4(COL6A2):c.115+13G>A
|
|
|
NM_001849.4(COL6A2):c.115+16G>A
|
|
|
NM_001849.4(COL6A2):c.115+17G>A
|
|
|
NM_001849.4(COL6A2):c.115+19C>T
|
|
|
NM_001849.4(COL6A2):c.115+19_115+25del
|
rs757969178
|
|
NM_001849.4(COL6A2):c.116-14C>G
|
|
|
NM_001849.4(COL6A2):c.1179+20C>T
|
|
|
NM_001849.4(COL6A2):c.1180-10C>G
|
rs777782503
|
|
NM_001849.4(COL6A2):c.1180-15C>T
|
|
|
NM_001849.4(COL6A2):c.1180-16T>C
|
rs1355356965
|
|
NM_001849.4(COL6A2):c.1180-5_1180-3del
|
rs774369631
|
|
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
|
|
|
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
|
|
|
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
|
|
|
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
NM_001849.4(COL6A2):c.1269+14G>A
|
|
|
NM_001849.4(COL6A2):c.1269+17C>A
|
|
|
NM_001849.4(COL6A2):c.1269+7C>T
|
rs751071208
|
|
NM_001849.4(COL6A2):c.1269+9C>T
|
|
|
NM_001849.4(COL6A2):c.1270-8C>A
|
rs1601233823
|
|
NM_001849.4(COL6A2):c.1270-8C>T
|
|
|
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=)
|
rs1601233959
|
|
NM_001849.4(COL6A2):c.129C>T (p.Cys43=)
|
rs755324001
|
|
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
|
|
|
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=)
|
rs1230708321
|
|
NM_001849.4(COL6A2):c.132C>T (p.Pro44=)
|
rs2123614144
|
|
NM_001849.4(COL6A2):c.1332+11G>T
|
|
|
NM_001849.4(COL6A2):c.1333-12C>T
|
|
|
NM_001849.4(COL6A2):c.1333-5C>T
|
rs2078547153
|
|
NM_001849.4(COL6A2):c.1333-9_1333-5del
|
rs1193152104
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
|
|
|
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
|
|
|
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=)
|
rs1601235960
|
|
NM_001849.4(COL6A2):c.1395+20_1395+59dup
|
rs1363017776
|
|
NM_001849.4(COL6A2):c.1395+7G>A
|
|
|
NM_001849.4(COL6A2):c.1395+9_1395+38del
|
|
|
NM_001849.4(COL6A2):c.1396-20A>C
|
rs1398193069
|
|
NM_001849.4(COL6A2):c.1396-4C>A
|
|
|
NM_001849.4(COL6A2):c.1396-8T>C
|
|
|
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=)
|
rs758072176
|
|
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
|
|
|
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=)
|
rs745867374
|
|
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=)
|
rs528087300
|
|
NM_001849.4(COL6A2):c.1459-11C>T
|
|
|
NM_001849.4(COL6A2):c.1459-13C>G
|
|
|
NM_001849.4(COL6A2):c.1459-17T>C
|
rs2123646541
|
|
NM_001849.4(COL6A2):c.1459-5del
|
|
|
NM_001849.4(COL6A2):c.1459-6C>T
|
rs2078566233
|
|
NM_001849.4(COL6A2):c.1459-7C>G
|
|
|
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
|
|
|
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=)
|
rs2123646795
|
|
NM_001849.4(COL6A2):c.150G>T (p.Val50=)
|
rs2123614200
|
|
NM_001849.4(COL6A2):c.1521+10C>T
|
rs753385303
|
|
NM_001849.4(COL6A2):c.1521+19G>A
|
|
|
NM_001849.4(COL6A2):c.1521+9C>T
|
|
|
NM_001849.4(COL6A2):c.1522-12G>C
|
rs770511180
|
|
NM_001849.4(COL6A2):c.1522-13C>T
|
|
|
NM_001849.4(COL6A2):c.1522-17T>C
|
|
|
NM_001849.4(COL6A2):c.1522-20G>C
|
|
|
NM_001849.4(COL6A2):c.1522-8T>C
|
|
|
NM_001849.4(COL6A2):c.1522-9C>A
|
rs371576207
|
|
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=)
|
rs199842179
|
|
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
|
|
|
NM_001849.4(COL6A2):c.1572+13C>G
|
rs2078577323
|
|
NM_001849.4(COL6A2):c.1573-13G>A
|
rs771931533
|
|
NM_001849.4(COL6A2):c.1573-14T>C
|
rs2078581898
|
|
NM_001849.4(COL6A2):c.1573-20G>A
|
|
|
NM_001849.4(COL6A2):c.1573-8C>T
|
|
|
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=)
|
rs758975198
|
|
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=)
|
rs1394972929
|
|
NM_001849.4(COL6A2):c.159C>G (p.Thr53=)
|
rs2123614218
|
|
NM_001849.4(COL6A2):c.1608+13C>G
|
|
|
NM_001849.4(COL6A2):c.1608+17G>C
|
|
|
NM_001849.4(COL6A2):c.1609-19C>T
|
|
|
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
|
|
|
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
|
|
|
NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)
|
|
|
NM_001849.4(COL6A2):c.1671+10A>C
|
rs915786
|
|
NM_001849.4(COL6A2):c.1671+12C>G
|
|
|
NM_001849.4(COL6A2):c.1671+7G>A
|
|
|
NM_001849.4(COL6A2):c.1671+9_1671+10inv
|
|
|
NM_001849.4(COL6A2):c.1672-15_1672-13del
|
|
|
NM_001849.4(COL6A2):c.1672-20C>T
|
|
|
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
|
|
|
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
|
|
|
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=)
|
rs2123658659
|
|
NM_001849.4(COL6A2):c.1734+16G>A
|
|
|
NM_001849.4(COL6A2):c.1734+9G>A
|
|
|
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT
|
rs2123659310
|
|
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)
|
rs764878153
|
|
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
|
|
|
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
|
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
NM_001849.4(COL6A2):c.1770+12A>G
|
|
|
NM_001849.4(COL6A2):c.1770+13T>C
|
|
|
NM_001849.4(COL6A2):c.1770+15G>C
|
|
|
NM_001849.4(COL6A2):c.1771-12T>C
|
|
|
NM_001849.4(COL6A2):c.1771-16G>A
|
|
|
NM_001849.4(COL6A2):c.1771-19C>T
|
|
|
NM_001849.4(COL6A2):c.1771-20G>C
|
|
|
NM_001849.4(COL6A2):c.1771-9G>A
|
|
|
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
|
|
|
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=)
|
rs370858447
|
|
NM_001849.4(COL6A2):c.1816+11G>A
|
|
|
NM_001849.4(COL6A2):c.1816+12C>T
|
|
|
NM_001849.4(COL6A2):c.1816+17G>A
|
|
|
NM_001849.4(COL6A2):c.1816+18_1816+30del
|
|
|
NM_001849.4(COL6A2):c.1816+19_1816+28del
|
|
|
NM_001849.4(COL6A2):c.1816+20A>C
|
|
|
NM_001849.4(COL6A2):c.1816+9C>A
|
rs1456625954
|
|
NM_001849.4(COL6A2):c.1817-18A>C
|
|
|
NM_001849.4(COL6A2):c.1817-19G>A
|
rs2123661488
|
|
NM_001849.4(COL6A2):c.1817-4C>A
|
|
|
NM_001849.4(COL6A2):c.1817-4C>T
|
rs373659176
|
|
NM_001849.4(COL6A2):c.1817-9C>T
|
rs766915366
|
|
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=)
|
rs1451931496
|
|
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
|
|
|
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=)
|
rs908989305
|
|
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
|
|
|
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=)
|
rs1472678084
|
|
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)
|
rs776676512
|
|
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=)
|
rs1458485829
|
|
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
|
|
|
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)
|
rs547589437
|
|
NM_001849.4(COL6A2):c.1969+10G>T
|
rs201259184
|
|
NM_001849.4(COL6A2):c.1969+11C>T
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+17dup
|
rs760398644
|
|
NM_001849.4(COL6A2):c.1969+12_1969+38dup
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+48del
|
rs2123662331
|
|
NM_001849.4(COL6A2):c.1969+12del
|
|
|
NM_001849.4(COL6A2):c.1969+17C>G
|
rs539735984
|
|
NM_001849.4(COL6A2):c.1969+19G>A
|
|
|
NM_001849.4(COL6A2):c.1969+20G>C
|
|
|
NM_001849.4(COL6A2):c.1969+20G>T
|
|
|
NM_001849.4(COL6A2):c.1969+7G>A
|
|
|
NM_001849.4(COL6A2):c.1970-12_1970-9dup
|
|
|
NM_001849.4(COL6A2):c.1970-14C>G
|
|
|
NM_001849.4(COL6A2):c.1970-4G>T
|
|
|
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
|
|
|
NM_001849.4(COL6A2):c.1980G>T (p.Val660=)
|
rs201427728
|
|
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
|
|
|
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=)
|
rs369568238
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
|
|
|
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)
|
rs1601249990
|
|
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
|
|
|
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
|
|
|
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
|
|
|
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr)
|
rs375608173
|
|
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
|
|
|
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
|
|
|
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
|
|
|
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
|
|
|
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His)
|
rs145450812
|
|
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=)
|
rs2123663974
|
|
NM_001849.4(COL6A2):c.2175G>A (p.Val725=)
|
rs2123663986
|
|
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=)
|
rs1334569870
|
|
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
|
|
|
NM_001849.4(COL6A2):c.21C>T (p.Ser7=)
|
rs760481395
|
|
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
|
|
|
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
|
|
|
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
|
|
|
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=)
|
rs775259194
|
|
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=)
|
rs962884368
|
|
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=)
|
rs140643748
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
|
|
|
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
|
|
|
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
|
|
|
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
|
|
|
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=)
|
rs757806161
|
|
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
|
|
|
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=)
|
rs775201159
|
|
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
|
|
|
NM_001849.4(COL6A2):c.2422+17G>A
|
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2422+8T>C
|
rs1220569382
|
|
NM_001849.4(COL6A2):c.2423-11CT[2]
|
rs756221937
|
|
NM_001849.4(COL6A2):c.2423-12C>T
|
|
|
NM_001849.4(COL6A2):c.2423-17T>C
|
|
|
NM_001849.4(COL6A2):c.2423-18CT[2]
|
rs2123666734
|
|
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
|
|
|
NM_001849.4(COL6A2):c.2423-19C>T
|
|
|
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=)
|
rs2078672055
|
|
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=)
|
rs2123667105
|
|
NM_001849.4(COL6A2):c.2461+15C>T
|
rs1057002808
|
|
NM_001849.4(COL6A2):c.2461+9G>A
|
rs2078672583
|
|
NM_001849.4(COL6A2):c.2462-20G>C
|
|
|
NM_001849.4(COL6A2):c.2462-20G>T
|
|
|
NM_001849.4(COL6A2):c.2462-5dup
|
rs797044699
|
|
NM_001849.4(COL6A2):c.2462-8C>T
|
rs1419954494
|
|
NM_001849.4(COL6A2):c.2472G>A (p.Val824=)
|
rs1484313723
|
|
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
|
|
|
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=)
|
rs369040271
|
|
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=)
|
rs369040271
|
|
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
|
|
|
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
|
|
|
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=)
|
rs748054346
|
|
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
|
|
|
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
|
|
|
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
|
|
|
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
|
|
|
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
|
|
|
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=)
|
rs144484744
|
|
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln)
|
rs61735831
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr)
|
rs141021828
|
|
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=)
|
rs147044688
|
|
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)
|
rs369396198
|
|
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=)
|
rs1339393899
|
|
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
|
|
|
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
|
|
|
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=)
|
rs908318849
|
|
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
|
|
|
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
|
|
|
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
|
|
|
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
|
|
|
NM_001849.4(COL6A2):c.2751G>A (p.Val917=)
|
rs111341650
|
|
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
|
|
|
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=)
|
rs200652329
|
|
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=)
|
rs769894173
|
|
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=)
|
rs768497480
|
|
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=)
|
rs768497480
|
|
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
|
|
|
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=)
|
rs138074469
|
|
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=)
|
rs548194162
|
|
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
|
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
|
|
|
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
|
|
|
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
|
|
|
NM_001849.4(COL6A2):c.291C>T (p.Gly97=)
|
rs1007921670
|
|
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=)
|
rs2078774154
|
|
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
|
|
|
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
|
|
|
NM_001849.4(COL6A2):c.2940G>A (p.Val980=)
|
rs886044694
|
|
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
|
|
|
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=)
|
rs149845431
|
|
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
|
|
|
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=)
|
rs1555877365
|
|
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=)
|
rs751494076
|
|
NM_001849.4(COL6A2):c.300C>T (p.His100=)
|
rs765941470
|
|
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=)
|
rs2123456173
|
|
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
|
|
|
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)
|
rs762516507
|
|
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
|
|
|
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
|
|
|
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
|
|
|
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
|
|
|
NM_001849.4(COL6A2):c.345G>A (p.Arg115=)
|
rs138007666
|
|
NM_001849.4(COL6A2):c.393C>T (p.Gly131=)
|
|
|
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
|
|
|
NM_001849.4(COL6A2):c.399C>T (p.Phe133=)
|
rs547695695
|
|
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met)
|
rs866311790
|
|
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
|
|
|
NM_001849.4(COL6A2):c.513G>A (p.Gly171=)
|
rs1291272464
|
|
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
|
|
|
NM_001849.4(COL6A2):c.586C>T (p.Leu196=)
|
rs1222208626
|
|
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
|
|
|
NM_001849.4(COL6A2):c.627C>T (p.His209=)
|
rs545218705
|
|
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)
|
rs563449281
|
|
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
|
|
|
NM_001849.4(COL6A2):c.702C>T (p.Ile234=)
|
rs1369161493
|
|
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
|
|
|
NM_001849.4(COL6A2):c.714+18G>A
|
|
|
NM_001849.4(COL6A2):c.714+8G>A
|
rs1489436620
|
|
NM_001849.4(COL6A2):c.714+8G>T
|
|
|
NM_001849.4(COL6A2):c.715-14T>C
|
|
|
NM_001849.4(COL6A2):c.715-18T>C
|
|
|
NM_001849.4(COL6A2):c.736-8C>T
|
|
|
NM_001849.4(COL6A2):c.75C>T (p.Val25=)
|
rs2078398447
|
|
NM_001849.4(COL6A2):c.780C>T (p.Pro260=)
|
rs1021304559
|
|
NM_001849.4(COL6A2):c.802-9T>C
|
|
|
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
|
|
|
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
|
|
|
NM_001849.4(COL6A2):c.855+16C>T
|
|
|
NM_001849.4(COL6A2):c.856-15C>T
|
|
|
NM_001849.4(COL6A2):c.856-9C>T
|
|
|
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
|
|
|
NM_001849.4(COL6A2):c.901-10C>T
|
rs754039292
|
|
NM_001849.4(COL6A2):c.901-11_901-9del
|
|
|
NM_001849.4(COL6A2):c.901-20C>T
|
|
|
NM_001849.4(COL6A2):c.927+12G>T
|
|
|
NM_001849.4(COL6A2):c.927+14C>T
|
|
|
NM_001849.4(COL6A2):c.927+16T>C
|
rs2123627287
|
|
NM_001849.4(COL6A2):c.927+9_927+21del
|
rs2123627262
|
|
NM_001849.4(COL6A2):c.928-11C>T
|
|
|
NM_001849.4(COL6A2):c.928-11del
|
rs2123628057
|
|
NM_001849.4(COL6A2):c.928-18G>A
|
|
|
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
|
|
|
NM_001849.4(COL6A2):c.948T>C (p.Gly316=)
|
rs764665426
|
|
NM_001849.4(COL6A2):c.954+14G>A
|
rs2123628304
|
|
NM_001849.4(COL6A2):c.954+8G>A
|
rs1377719373
|
|
NM_001849.4(COL6A2):c.955-15T>G
|
|
|
NM_001849.4(COL6A2):c.955-19C>T
|
|
|
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
|
|
|
NM_001849.4(COL6A2):c.999+12C>T
|
|
|
NM_001849.4(COL6A2):c.999+15G>C
|
|
|
NM_001849.4(COL6A2):c.999+18C>T
|
|
|
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)
|
rs140510298
|
|
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)
|
rs886044010
|
|
NM_004369.4(COL6A3):c.108G>A (p.Ala36=)
|
rs374055173
|
|
NM_004369.4(COL6A3):c.108G>T (p.Ala36=)
|
rs374055173
|
|
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=)
|
rs535498742
|
|
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val)
|
|
|
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=)
|
|
|
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=)
|
rs2106378535
|
|
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=)
|
|
|
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=)
|
|
|
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val)
|
|
|
NM_004369.4(COL6A3):c.1197G>A (p.Val399=)
|
|
|
NM_004369.4(COL6A3):c.11A>G (p.His4Arg)
|
|
|
NM_004369.4(COL6A3):c.11A>T (p.His4Leu)
|
rs777465480
|
|
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=)
|
|
|
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=)
|
|
|
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=)
|
|
|
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=)
|
|
|
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)
|
|
|
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=)
|
rs1162933726
|
|
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val)
|
|
|
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=)
|
|
|
NM_004369.4(COL6A3):c.1312+12C>A
|
rs915562937
|
|
NM_004369.4(COL6A3):c.1312+12C>G
|
|
|
NM_004369.4(COL6A3):c.1312+19C>G
|
|
|
NM_004369.4(COL6A3):c.1323C>T (p.Val441=)
|
|
|
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=)
|
|
|
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=)
|
rs2106370423
|
|
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=)
|
|
|
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)
|
rs886043010
|
|
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=)
|
|
|
NM_004369.4(COL6A3):c.141T>C (p.Ser47=)
|
rs2078403487
|
|
NM_004369.4(COL6A3):c.1452G>T (p.Val484=)
|
rs1574726196
|
|
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=)
|
|
|
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=)
|
|
|
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=)
|
rs199969722
|
|
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=)
|
rs1259919285
|
|
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr)
|
|
|
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=)
|
rs2106370154
|
|
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp)
|
rs369379463
|
|
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=)
|
rs764955459
|
|
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=)
|
rs2106370096
|
|
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=)
|
rs574912582
|
|
NM_004369.4(COL6A3):c.159A>G (p.Glu53=)
|
rs1259558140
|
|
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr)
|
|
|
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg)
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe)
|
|
|
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=)
|
rs141939225
|
|
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=)
|
|
|
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=)
|
rs1256532267
|
|
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met)
|
rs114278376
|
|
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu)
|
rs76576170
|
|
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)
|
|
|
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser)
|
rs375649083
|
|
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=)
|
rs756709812
|
|
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=)
|
|
|
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=)
|
|
|
NM_004369.4(COL6A3):c.184C>T (p.Leu62=)
|
|
|
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
|
|
|
NM_004369.4(COL6A3):c.1897+16C>G
|
|
|
NM_004369.4(COL6A3):c.1898-10T>C
|
rs573663410
|
|
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)
|
rs149187225
|
|
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=)
|
rs1574721263
|
|
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu)
|
|
|
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=)
|
rs767818130
|
|
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=)
|
rs1372723004
|
|
NM_004369.4(COL6A3):c.211G>A (p.Val71Met)
|
|
|
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)
|
|
|
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)
|
rs375924639
|
|
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)
|
rs113393241
|
|
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=)
|
|
|
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=)
|
|
|
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)
|
|
|
NM_004369.4(COL6A3):c.2226C>T (p.His742=)
|
rs376627571
|
|
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)
|
|
|
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=)
|
rs766815447
|
|
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=)
|
|
|
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys)
|
|
|
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=)
|
|
|
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr)
|
|
|
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)
|
|
|
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=)
|
|
|
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=)
|
rs2077920362
|
|
NM_004369.4(COL6A3):c.231T>C (p.His77=)
|
|
|
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val)
|
rs1559257612
|
|
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=)
|
|
|
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=)
|
rs2106366549
|
|
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=)
|
rs988131438
|
|
NM_004369.4(COL6A3):c.2497+17G>T
|
|
|
NM_004369.4(COL6A3):c.2497+7C>A
|
rs2077913887
|
|
NM_004369.4(COL6A3):c.2497+8T>C
|
rs2106366476
|
|
NM_004369.4(COL6A3):c.2497+9C>T
|
rs774198344
|
|
NM_004369.4(COL6A3):c.2498-15del
|
|
|
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=)
|
rs187237497
|
|
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=)
|
|
|
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=)
|
|
|
NM_004369.4(COL6A3):c.2604G>A (p.Val868=)
|
|
|
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly)
|
|
|
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=)
|
rs1559255553
|
|
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=)
|
rs2106364617
|
|
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met)
|
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=)
|
|
|
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=)
|
|
|
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)
|
|
|
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=)
|
|
|
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=)
|
|
|
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro)
|
|
|
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=)
|
rs116256579
|
|
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys)
|
rs774872934
|
|
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)
|
|
|
NM_004369.4(COL6A3):c.2835G>A (p.Val945=)
|
|
|
NM_004369.4(COL6A3):c.2844C>T (p.Val948=)
|
|
|
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=)
|
|
|
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)
|
rs763515820
|
|
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)
|
|
|
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=)
|
|
|
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=)
|
|
|
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=)
|
rs915245460
|
|
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)
|
rs886042836
|
|
NM_004369.4(COL6A3):c.3071-11C>T
|
|
|
NM_004369.4(COL6A3):c.3071-13G>C
|
|
|
NM_004369.4(COL6A3):c.3071-6T>C
|
|
|
NM_004369.4(COL6A3):c.3071-7C>T
|
rs370229367
|
|
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)
|
rs2077798088
|
|
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=)
|
|
|
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=)
|
rs2106361675
|
|
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)
|
rs780402445
|
|
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=)
|
|
|
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=)
|
|
|
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
|
|
|
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=)
|
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=)
|
rs201962257
|
|
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=)
|
|
|
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys)
|
rs762778512
|
|
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=)
|
|
|
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=)
|
|
|
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=)
|
rs200562443
|
|
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=)
|
|
|
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile)
|
|
|
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=)
|
|
|
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
|
|
|
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=)
|
rs772443564
|
|
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val)
|
rs372844024
|
|
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=)
|
|
|
NM_004369.4(COL6A3):c.33C>T (p.Ala11=)
|
rs761011715
|
|
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)
|
|
|
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=)
|
|
|
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=)
|
|
|
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=)
|
rs1553560457
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser)
|
rs920105033
|
|
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=)
|
|
|
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=)
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=)
|
rs768543487
|
|
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr)
|
rs2106360836
|
|
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=)
|
rs115065877
|
|
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=)
|
|
|
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=)
|
rs547052866
|
|
NM_004369.4(COL6A3):c.3679+10G>A
|
|
|
NM_004369.4(COL6A3):c.3679+13C>T
|
|
|
NM_004369.4(COL6A3):c.3679+14T>G
|
|
|
NM_004369.4(COL6A3):c.3679+17_3679+18del
|
rs759774701
|
|
NM_004369.4(COL6A3):c.3679+9G>A
|
|
|
NM_004369.4(COL6A3):c.3680-18C>T
|
|
|
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=)
|
|
|
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=)
|
rs577927810
|
|
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His)
|
|
|
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe)
|
rs199646208
|
|
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=)
|
rs886055808
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
NM_004369.4(COL6A3):c.384C>T (p.Ser128=)
|
|
|
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=)
|
rs2077708134
|
|
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=)
|
|
|
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=)
|
rs2106357314
|
|
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=)
|
rs2106357258
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)
|
|
|
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=)
|
|
|
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn)
|
|
|
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=)
|
|
|
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=)
|
rs2106357035
|
|
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=)
|
rs1553559241
|
|
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=)
|
|
|
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=)
|
rs2106356973
|
|
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=)
|
|
|
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=)
|
rs2077697254
|
|
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=)
|
|
|
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=)
|
rs2077695533
|
|
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=)
|
|
|
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)
|
rs759052298
|
|
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe)
|
|
|
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
|
|
|
NM_004369.4(COL6A3):c.4285+12G>T
|
rs1295105927
|
|
NM_004369.4(COL6A3):c.4285+16C>T
|
|
|
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=)
|
rs2077626622
|
|
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met)
|
rs2646260
|
|
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=)
|
|
|
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)
|
|
|
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=)
|
rs2106353277
|
|
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln)
|
|
|
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=)
|
|
|
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)
|
rs1216842831
|
|
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=)
|
|
|
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=)
|
|
|
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=)
|
rs369543806
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=)
|
|
|
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr)
|
rs1553557796
|
|
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=)
|
rs1574695218
|
|
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=)
|
rs2106352992
|
|
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=)
|
rs1223820832
|
|
NM_004369.4(COL6A3):c.45C>G (p.Leu15=)
|
|
|
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
|
|
|
NM_004369.4(COL6A3):c.462G>T (p.Ser154=)
|
|
|
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=)
|
|
|
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=)
|
rs1017491163
|
|
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=)
|
|
|
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=)
|
|
|
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=)
|
|
|
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=)
|
|
|
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=)
|
|
|
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=)
|
rs2077611451
|
|
NM_004369.4(COL6A3):c.483C>T (p.Pro161=)
|
rs2106388145
|
|
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=)
|
|
|
NM_004369.4(COL6A3):c.4900+9C>A
|
rs117345850
|
|
NM_004369.4(COL6A3):c.4901-9C>G
|
|
|
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=)
|
|
|
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=)
|
|
|
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=)
|
|
|
NM_004369.4(COL6A3):c.498G>A (p.Lys166=)
|
rs2106388118
|
|
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=)
|
|
|
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=)
|
|
|
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val)
|
rs147231661
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=)
|
|
|
NM_004369.4(COL6A3):c.516G>A (p.Val172=)
|
rs2106388091
|
|
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=)
|
|
|
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=)
|
|
|
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=)
|
rs578249894
|
|
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp)
|
rs578249894
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp)
|
rs1375292407
|
|
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=)
|
|
|
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=)
|
|
|
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=)
|
|
|
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=)
|
rs2106350355
|
|
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val)
|
rs764242694
|
|
NM_004369.4(COL6A3):c.5500+14T>A
|
|
|
NM_004369.4(COL6A3):c.5500+17G>T
|
|
|
NM_004369.4(COL6A3):c.5500+20T>C
|
rs2077560317
|
|
NM_004369.4(COL6A3):c.5500+8C>G
|
rs2077560922
|
|
NM_004369.4(COL6A3):c.5501-16C>A
|
|
|
NM_004369.4(COL6A3):c.5501-17G>T
|
rs200723656
|
|
NM_004369.4(COL6A3):c.5501-7T>G
|
|
|
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=)
|
|
|
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=)
|
rs2106349387
|
|
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
|
|
|
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)
|
rs368943871
|
|
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=)
|
rs886044430
|
|
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met)
|
|
|
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr)
|
|
|
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=)
|
|
|
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=)
|
|
|
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp)
|
|
|
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=)
|
|
|
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
|
rs139230842
|
|
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg)
|
|
|
NM_004369.4(COL6A3):c.576G>A (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)
|
|
|
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)
|
rs113332380
|
|
NM_004369.4(COL6A3):c.5839-9T>C
|
rs745307761
|
|
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=)
|
rs2106347308
|
|
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
|
|
|
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=)
|
|
|
NM_004369.4(COL6A3):c.5918-11T>C
|
|
|
NM_004369.4(COL6A3):c.5918-17T>C
|
rs2106346191
|
|
NM_004369.4(COL6A3):c.5918-7T>G
|
rs1004578583
|
|
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
|
|
|
NM_004369.4(COL6A3):c.595A>C (p.Asn199His)
|
|
|
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=)
|
|
|
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)
|
|
|
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=)
|
rs372028656
|
|
NM_004369.4(COL6A3):c.6063+13T>A
|
|
|
NM_004369.4(COL6A3):c.6063+14A>T
|
rs1242577749
|
|
NM_004369.4(COL6A3):c.6063+14_6063+15insG
|
rs2106345949
|
|
NM_004369.4(COL6A3):c.6064-11C>T
|
|
|
NM_004369.4(COL6A3):c.6064-16C>A
|
|
|
NM_004369.4(COL6A3):c.6064-6C>G
|
rs202091342
|
|
NM_004369.4(COL6A3):c.6064-7T>G
|
|
|
NM_004369.4(COL6A3):c.6064-8T>G
|
rs2106344303
|
|
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=)
|
rs886044237
|
|
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser)
|
|
|
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=)
|
|
|
NM_004369.4(COL6A3):c.6157-16G>C
|
|
|
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=)
|
rs1574978545
|
|
NM_004369.4(COL6A3):c.6210+13T>C
|
|
|
NM_004369.4(COL6A3):c.6210+15T>C
|
rs2106343420
|
|
NM_004369.4(COL6A3):c.6211-17T>G
|
|
|
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=)
|
|
|
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr)
|
|
|
NM_004369.4(COL6A3):c.6282+20G>A
|
|
|
NM_004369.4(COL6A3):c.6282+8G>A
|
|
|
NM_004369.4(COL6A3):c.6283-14G>A
|
|
|
NM_004369.4(COL6A3):c.6309+8A>G
|
rs2077385691
|
|
NM_004369.4(COL6A3):c.6310-17G>A
|
|
|
NM_004369.4(COL6A3):c.6318A>G (p.Val2106=)
|
rs1574974939
|
|
NM_004369.4(COL6A3):c.6354+12T>A
|
|
|
NM_004369.4(COL6A3):c.6355-10T>C
|
|
|
NM_004369.4(COL6A3):c.6408+17G>A
|
|
|
NM_004369.4(COL6A3):c.6409-13G>A
|
|
|
NM_004369.4(COL6A3):c.6409-19A>G
|
|
|
NM_004369.4(COL6A3):c.6409-8T>C
|
rs2106340546
|
|
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=)
|
|
|
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=)
|
|
|
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His)
|
rs1483242059
|
|
NM_004369.4(COL6A3):c.6471+17T>C
|
|
|
NM_004369.4(COL6A3):c.6472-15C>T
|
|
|
NM_004369.4(COL6A3):c.6472-7C>G
|
|
|
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=)
|
|
|
NM_004369.4(COL6A3):c.6537+15A>G
|
|
|
NM_004369.4(COL6A3):c.6538-12T>C
|
|
|
NM_004369.4(COL6A3):c.6538-13T>C
|
rs754557027
|
|
NM_004369.4(COL6A3):c.6538-20G>C
|
|
|
NM_004369.4(COL6A3):c.6538-5A>C
|
rs1574971750
|
|
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=)
|
rs1172324866
|
|
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=)
|
|
|
NM_004369.4(COL6A3):c.6591+15G>T
|
|
|
NM_004369.4(COL6A3):c.6591+7G>A
|
|
|
NM_004369.4(COL6A3):c.6592-11T>C
|
|
|
NM_004369.4(COL6A3):c.6592-19_6592-10del
|
rs2077285974
|
|
NM_004369.4(COL6A3):c.6592-8T>C
|
rs994267675
|
|
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=)
|
|
|
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)
|
|
|
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
|
|
|
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr)
|
rs748768672
|
|
NM_004369.4(COL6A3):c.661G>A (p.Val221Met)
|
rs765527121
|
|
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
|
|
|
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6627+15G>A
|
|
|
NM_004369.4(COL6A3):c.6627+19C>A
|
|
|
NM_004369.4(COL6A3):c.6627+9C>T
|
|
|
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=)
|
rs765837100
|
|
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=)
|
rs147537071
|
|
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=)
|
|
|
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=)
|
rs538533719
|
|
NM_004369.4(COL6A3):c.6690+11C>T
|
|
|
NM_004369.4(COL6A3):c.6690+12C>T
|
|
|
NM_004369.4(COL6A3):c.6690+13G>A
|
|
|
NM_004369.4(COL6A3):c.6691-10C>T
|
|
|
NM_004369.4(COL6A3):c.6691-16T>G
|
rs1211086568
|
|
NM_004369.4(COL6A3):c.669A>C (p.Pro223=)
|
|
|
NM_004369.4(COL6A3):c.669A>G (p.Pro223=)
|
rs1246288754
|
|
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=)
|
|
|
NM_004369.4(COL6A3):c.6753+15A>G
|
|
|
NM_004369.4(COL6A3):c.6754-12C>T
|
rs2077199421
|
|
NM_004369.4(COL6A3):c.6754-15C>T
|
|
|
NM_004369.4(COL6A3):c.6754-18C>G
|
|
|
NM_004369.4(COL6A3):c.6754-18C>T
|
|
|
NM_004369.4(COL6A3):c.6754-20T>C
|
|
|
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=)
|
rs116541926
|
|
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=)
|
|
|
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=)
|
|
|
NM_004369.4(COL6A3):c.6816+8T>G
|
|
|
NM_004369.4(COL6A3):c.6817-5T>C
|
rs794727464
|
|
NM_004369.4(COL6A3):c.6817-6G>A
|
rs886042773
|
|
NM_004369.4(COL6A3):c.6817-9C>G
|
|
|
NM_004369.4(COL6A3):c.684C>T (p.Asp228=)
|
rs771393722
|
|
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=)
|
rs3790993
|
|
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His)
|
rs398124131
|
|
NM_004369.4(COL6A3):c.6879+13C>T
|
rs754120322
|
|
NM_004369.4(COL6A3):c.6879+14G>T
|
|
|
NM_004369.4(COL6A3):c.6879+16G>T
|
|
|
NM_004369.4(COL6A3):c.6879+18T>C
|
|
|
NM_004369.4(COL6A3):c.687G>A (p.Thr229=)
|
|
|
NM_004369.4(COL6A3):c.6880-20C>A
|
|
|
NM_004369.4(COL6A3):c.6880-6T>C
|
rs1023123323
|
|
NM_004369.4(COL6A3):c.6880-7C>A
|
|
|
NM_004369.4(COL6A3):c.6880-8A>G
|
rs377004585
|
|
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=)
|
|
|
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=)
|
|
|
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=)
|
|
|
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
|
|
|
NM_004369.4(COL6A3):c.6930+6dup
|
|
|
NM_004369.4(COL6A3):c.6931-19A>G
|
|
|
NM_004369.4(COL6A3):c.6931-19A>T
|
rs771629624
|
|
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln)
|
rs1207239805
|
|
NM_004369.4(COL6A3):c.6966+11C>T
|
|
|
NM_004369.4(COL6A3):c.6966+18G>A
|
|
|
NM_004369.4(COL6A3):c.6966+9T>A
|
|
|
NM_004369.4(COL6A3):c.6967-10T>C
|
rs777986767
|
|
NM_004369.4(COL6A3):c.6967-18T>A
|
|
|
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=)
|
|
|
NM_004369.4(COL6A3):c.7029+11G>A
|
|
|
NM_004369.4(COL6A3):c.7029+13_7029+44del
|
|
|
NM_004369.4(COL6A3):c.7029+19T>C
|
|
|
NM_004369.4(COL6A3):c.7030-20G>A
|
|
|
NM_004369.4(COL6A3):c.7030-4C>G
|
rs886042395
|
|
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=)
|
rs1574951790
|
|
NM_004369.4(COL6A3):c.705C>A (p.Ile235=)
|
|
|
NM_004369.4(COL6A3):c.705C>T (p.Ile235=)
|
rs993297723
|
|
NM_004369.4(COL6A3):c.709+11C>G
|
|
|
NM_004369.4(COL6A3):c.709+12G>A
|
|
|
NM_004369.4(COL6A3):c.709+13C>T
|
|
|
NM_004369.4(COL6A3):c.709+16C>T
|
|
|
NM_004369.4(COL6A3):c.709+18A>C
|
|
|
NM_004369.4(COL6A3):c.709+18A>G
|
|
|
NM_004369.4(COL6A3):c.709+9A>C
|
|
|
NM_004369.4(COL6A3):c.7092+16G>C
|
|
|
NM_004369.4(COL6A3):c.7093-15T>C
|
|
|
NM_004369.4(COL6A3):c.7093-17G>A
|
|
|
NM_004369.4(COL6A3):c.7093-18C>T
|
|
|
NM_004369.4(COL6A3):c.7093-9G>T
|
rs2106325624
|
|
NM_004369.4(COL6A3):c.710-6_710-5dup
|
|
|
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=)
|
rs775666497
|
|
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=)
|
rs1410340783
|
|
NM_004369.4(COL6A3):c.7125+11T>C
|
|
|
NM_004369.4(COL6A3):c.7125+12G>A
|
|
|
NM_004369.4(COL6A3):c.7125+15T>C
|
|
|
NM_004369.4(COL6A3):c.7125+19G>C
|
|
|
NM_004369.4(COL6A3):c.7126-12T>C
|
|
|
NM_004369.4(COL6A3):c.7162+11G>A
|
rs540897134
|
|
NM_004369.4(COL6A3):c.7175-6C>G
|
rs199723531
|
|
NM_004369.4(COL6A3):c.7175-6C>T
|
|
|
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=)
|
|
|
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=)
|
|
|
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=)
|
rs1162382032
|
|
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)
|
rs1339553173
|
|
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys)
|
|
|
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=)
|
rs2106325082
|
|
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val)
|
rs555176397
|
|
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys)
|
rs569662223
|
|
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala)
|
rs757349865
|
|
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=)
|
rs2106324946
|
|
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=)
|
|
|
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=)
|
|
|
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=)
|
|
|
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=)
|
|
|
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=)
|
rs765129895
|
|
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
|
|
|
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=)
|
rs749750613
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=)
|
|
|
NM_004369.4(COL6A3):c.7669-15T>C
|
|
|
NM_004369.4(COL6A3):c.7669-16C>T
|
|
|
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser)
|
|
|
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=)
|
rs1033018695
|
|
NM_004369.4(COL6A3):c.771T>C (p.Asn257=)
|
|
|
NM_004369.4(COL6A3):c.7765+15T>C
|
rs777263519
|
|
NM_004369.4(COL6A3):c.7766-13T>C
|
rs2076980060
|
|
NM_004369.4(COL6A3):c.7766-14A>G
|
|
|
NM_004369.4(COL6A3):c.7766-20G>A
|
|
|
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=)
|
rs1574940988
|
|
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn)
|
|
|
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly)
|
rs984056484
|
|
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=)
|
|
|
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=)
|
rs535306425
|
|
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn)
|
rs145884404
|
|
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
|
|
|
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=)
|
|
|
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=)
|
rs1235022762
|
|
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=)
|
|
|
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=)
|
rs1378457056
|
|
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=)
|
|
|
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=)
|
|
|
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=)
|
rs2076975766
|
|
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=)
|
|
|
NM_004369.4(COL6A3):c.792C>T (p.Phe264=)
|
rs2106379168
|
|
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=)
|
rs80193928
|
|
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=)
|
|
|
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu)
|
rs761740861
|
|
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln)
|
rs886055803
|
|
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=)
|
|
|
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=)
|
|
|
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=)
|
|
|
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=)
|
rs775318733
|
|
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)
|
|
|
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=)
|
|
|
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=)
|
|
|
NM_004369.4(COL6A3):c.816C>T (p.Leu272=)
|
|
|
NM_004369.4(COL6A3):c.819A>G (p.Pro273=)
|
rs2106379131
|
|
NM_004369.4(COL6A3):c.81G>A (p.Gln27=)
|
|
|
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=)
|
rs2106319581
|
|
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr)
|
|
|
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=)
|
|
|
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=)
|
|
|
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=)
|
rs534728020
|
|
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=)
|
rs766217603
|
|
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=)
|
rs1453228535
|
|
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=)
|
|
|
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser)
|
rs763395740
|
|
NM_004369.4(COL6A3):c.837C>A (p.Ile279=)
|
|
|
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=)
|
rs780134165
|
|
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln)
|
rs370246962
|
|
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
|
|
|
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=)
|
rs753264980
|
|
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=)
|
|
|
NM_004369.4(COL6A3):c.8464+7C>T
|
|
|
NM_004369.4(COL6A3):c.8465-18T>C
|
rs1318549888
|
|
NM_004369.4(COL6A3):c.8465-7T>A
|
rs1574936670
|
|
NM_004369.4(COL6A3):c.8465-9T>C
|
|
|
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=)
|
|
|
NM_004369.4(COL6A3):c.8567+20G>A
|
|
|
NM_004369.4(COL6A3):c.8568-10G>T
|
|
|
NM_004369.4(COL6A3):c.8568-12T>A
|
|
|
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=)
|
|
|
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
|
|
|
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=)
|
|
|
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=)
|
|
|
NM_004369.4(COL6A3):c.861C>T (p.Ser287=)
|
rs756380512
|
|
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
|
|
|
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=)
|
rs768887961
|
|
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=)
|
|
|
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=)
|
rs746309230
|
|
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=)
|
|
|
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=)
|
rs551264358
|
|
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=)
|
|
|
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=)
|
rs770062985
|
|
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)
|
|
|
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
|
|
|
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=)
|
rs1332418093
|
|
NM_004369.4(COL6A3):c.877A>G (p.Met293Val)
|
|
|
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr)
|
rs2106314441
|
|
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr)
|
|
|
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=)
|
|
|
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=)
|
rs139811166
|
|
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=)
|
|
|
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=)
|
rs2106314283
|
|
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del)
|
rs757584445
|
|
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)
|
rs773820329
|
|
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=)
|
rs147324162
|
|
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=)
|
rs147324162
|
|
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=)
|
rs114008087
|
|
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr)
|
rs727502837
|
|
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=)
|
|
|
NM_004369.4(COL6A3):c.8966-11C>A
|
|
|
NM_004369.4(COL6A3):c.8966-13A>G
|
|
|
NM_004369.4(COL6A3):c.8966-19G>A
|
|
|
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)
|
|
|
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly)
|
|
|
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=)
|
rs2106312595
|
|
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=)
|
rs2106312577
|
|
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=)
|
|
|
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)
|
|
|
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=)
|
rs1574928802
|
|
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
|
|
|
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=)
|
rs147327623
|
|
NM_004369.4(COL6A3):c.909C>T (p.Ala303=)
|
|
|
NM_004369.4(COL6A3):c.91+15C>A
|
rs117521066
|
|
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)
|
|
|
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)
|
|
|
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile)
|
rs564041158
|
|
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)
|
|
|
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)
|
rs1253951128
|
|
NM_004369.4(COL6A3):c.92-19C>A
|
|
|
NM_004369.4(COL6A3):c.92-19C>G
|
|
|
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=)
|
rs1363089686
|
|
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)
|
|
|
NM_004369.4(COL6A3):c.9230-19A>G
|
|
|
NM_004369.4(COL6A3):c.9230-20del
|
|
|
NM_004369.4(COL6A3):c.9230-4A>G
|
rs1559190144
|
|
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=)
|
rs77368269
|
|
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=)
|
rs957608376
|
|
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)
|
|
|
NM_004369.4(COL6A3):c.9328+8G>A
|
|
|
NM_004369.4(COL6A3):c.9329-18C>A
|
|
|
NM_004369.4(COL6A3):c.9329-4A>G
|
|
|
NM_004369.4(COL6A3):c.9329-7A>T
|
|
|
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg)
|
|
|
NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn)
|
rs759514583
|
|
NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=)
|
rs1446752971
|
|
NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)
|
|
|
NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)
|
|
|
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)
|
rs553486570
|
|
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)
|
rs553486570
|
|
NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=)
|
rs367728719
|
|
NM_004369.4(COL6A3):c.9493+14C>T
|
|
|
NM_004369.4(COL6A3):c.9493+16T>C
|
|
|
NM_004369.4(COL6A3):c.9494-12C>G
|
rs957142857
|
|
NM_004369.4(COL6A3):c.9494-15TC[2]
|
|
|
NM_004369.4(COL6A3):c.9494-16C>G
|
|
|
NM_004369.4(COL6A3):c.9494-17C>A
|
|
|
NM_004369.4(COL6A3):c.9494-5C>T
|
rs886043555
|
|
NM_004369.4(COL6A3):c.9494-6G>A
|
|
|
NM_004369.4(COL6A3):c.9494-6G>T
|
rs367899223
|
|
NM_004369.4(COL6A3):c.9494-9G>A
|
|
|
NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=)
|
rs1008454322
|
|
NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)
|
|
|
NM_004369.4(COL6A3):c.966C>A (p.Ile322=)
|
rs369160080
|
|