ClinVar Miner

List of variants reported as likely benign for Bethlem myopathy 1A

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2695
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
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_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
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>A rs115107397
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>A (p.Arg928His) rs144671871
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.7645C>T (p.Arg2549Trp) 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.