ClinVar Miner

List of variants reported as likely benign for Bethlem myopathy

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3915
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
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_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
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_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
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_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
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_004370.6(COL12A1):c.1892-7T>A rs779185109 0.00210
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825 0.00159
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_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246 0.00147
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239 0.00141
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_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 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_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248 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_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
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_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
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_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 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_004370.6(COL12A1):c.4958-7A>C rs1332779 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_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 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_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
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_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 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_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552 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_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00051
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_004370.6(COL12A1):c.7950+18T>G rs141529820 0.00049
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_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 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_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192 0.00043
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
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_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285 0.00041
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His) rs186775751 0.00040
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) rs78365682 0.00039
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785 0.00039
NM_004370.6(COL12A1):c.1892-7_1892-6del rs1491398037 0.00039
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580 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_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 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_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 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_004370.6(COL12A1):c.3954A>T (p.Ala1318=) rs200346099 0.00033
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277 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_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 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_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792 0.00026
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys) rs562076616 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_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 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_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811 0.00024
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_001848.3(COL6A1):c.2464+19G>A rs200297915 0.00023
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 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_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=) rs567079114 0.00022
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983 0.00022
NM_004370.6(COL12A1):c.823+20T>C rs534530101 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_004370.6(COL12A1):c.4452T>C (p.Asp1484=) rs202092920 0.00021
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 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_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006 0.00019
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn) rs185615367 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_004370.6(COL12A1):c.5251+14T>C rs188210409 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 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_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 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_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576 0.00016
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051 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_004370.6(COL12A1):c.3443+16G>A rs371060233 0.00015
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr) rs199654252 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_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149 0.00014
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=) rs369770672 0.00014
NM_004370.6(COL12A1):c.8469+14T>C rs370535727 0.00014
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His) rs57396313 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_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474 0.00013
NM_004370.6(COL12A1):c.4001-11C>T rs374279219 0.00013
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=) rs376582053 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_004370.6(COL12A1):c.1891+4A>G rs148292262 0.00012
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala) rs777544552 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_004370.6(COL12A1):c.1883A>G (p.Lys628Arg) rs752689011 0.00011
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700 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_004370.6(COL12A1):c.1050T>C (p.Val350=) rs372113789 0.00010
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=) rs373522815 0.00010
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614 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_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518 0.00009
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887 0.00009
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val) rs763883662 0.00009
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=) rs373978519 0.00009
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=) rs372068116 0.00009
NM_004370.6(COL12A1):c.8100+16T>A rs201476445 0.00009
NM_004370.6(COL12A1):c.8523+18G>C rs202002189 0.00009
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser) rs200375837 0.00009
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=) rs375760724 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_004370.6(COL12A1):c.1163C>T (p.Thr388Met) rs201657256 0.00008
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641 0.00008
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=) rs746395625 0.00008
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=) rs755878864 0.00008
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp) rs754228661 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_004370.6(COL12A1):c.1134C>T (p.His378=) rs376523503 0.00007
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu) rs376514006 0.00007
NM_004370.6(COL12A1):c.4288-12T>A rs377491153 0.00007
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=) rs747738369 0.00007
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu) rs373011926 0.00007
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 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_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe) rs756100330 0.00006
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147 0.00006
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668 0.00006
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile) rs368113790 0.00006
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=) rs376957850 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val) rs200819563 0.00006
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183 0.00006
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=) rs536622585 0.00006
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=) rs752068052 0.00006
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr) rs41269309 0.00006
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=) rs201039857 0.00006
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00006
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=) rs201965731 0.00006
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625 0.00006
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578 0.00006
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile) rs372482618 0.00006
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys) rs777948762 0.00006
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys) rs534778154 0.00006
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755 0.00006
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932 0.00006
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006 0.00006
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala) rs758182752 0.00006
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=) rs568748031 0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp) rs769219928 0.00006
NM_004370.6(COL12A1):c.7520-17A>G rs770500462 0.00006
NM_004370.6(COL12A1):c.7558+16T>C rs754091668 0.00006
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624 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_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163 0.00005
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914 0.00005
NM_004370.6(COL12A1):c.1892-6A>T rs60109744 0.00005
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130 0.00005
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=) rs377030726 0.00005
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525 0.00005
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851 0.00005
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys) rs575168916 0.00005
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His) rs191996302 0.00005
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys) rs200870100 0.00005
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=) rs554342070 0.00005
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val) rs367980407 0.00005
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=) rs572512247 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_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00004
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=) rs371148798 0.00004
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His) rs756803766 0.00004
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val) rs369924790 0.00004
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly) rs774882851 0.00004
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=) rs746946822 0.00004
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292 0.00004
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196 0.00004
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=) rs1013417237 0.00004
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983 0.00004
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met) rs572007088 0.00004
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=) rs191863996 0.00004
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly) rs1180402350 0.00004
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=) rs372499120 0.00004
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr) rs746982506 0.00004
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=) rs368940290 0.00004
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His) rs79863717 0.00004
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala) rs375221786 0.00004
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637 0.00004
NM_004370.6(COL12A1):c.456A>G (p.Gly152=) rs761930862 0.00004
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673 0.00004
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met) rs749368197 0.00004
NM_004370.6(COL12A1):c.5098-13C>T rs186255379 0.00004
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535 0.00004
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081 0.00004
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val) rs753254039 0.00004
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672 0.00004
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=) rs1479706901 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile) rs757737726 0.00004
NM_004370.6(COL12A1):c.546T>C (p.Val182=) rs764254293 0.00004
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=) rs747217911 0.00004
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309 0.00004
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys) rs775862147 0.00004
NM_004370.6(COL12A1):c.588G>A (p.Gln196=) rs748928908 0.00004
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836 0.00004
NM_004370.6(COL12A1):c.633A>G (p.Pro211=) rs541648868 0.00004
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841 0.00004
NM_004370.6(COL12A1):c.6607+8A>G rs781751102 0.00004
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00004
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg) rs1053454286 0.00004
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val) rs752850582 0.00004
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp) rs368686970 0.00004
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=) rs760111437 0.00004
NM_004370.6(COL12A1):c.7086+14C>T rs778933089 0.00004
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=) rs754178898 0.00004
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met) rs183898615 0.00004
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00004
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr) rs757556640 0.00004
NM_004370.6(COL12A1):c.794G>A (p.Arg265His) rs778155362 0.00004
NM_004370.6(COL12A1):c.7950+20T>G rs752468536 0.00004
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=) rs187901672 0.00004
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=) rs761216954 0.00004
NM_004370.6(COL12A1):c.8469+10T>C rs375332527 0.00004
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559 0.00004
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu) rs751638930 0.00004
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262 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_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr) rs201085951 0.00003
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His) rs775010013 0.00003
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=) rs1318149393 0.00003
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827 0.00003
NM_004370.6(COL12A1):c.2165-8T>C rs909913796 0.00003
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln) rs377480187 0.00003
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile) rs375704787 0.00003
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg) rs1357325121 0.00003
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385 0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483 0.00003
NM_004370.6(COL12A1):c.3566-8C>A rs201709757 0.00003
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn) rs767422633 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys) rs978290681 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 0.00003
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu) rs773936793 0.00003
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly) rs201651899 0.00003
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His) rs751419788 0.00003
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met) rs373216375 0.00003
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile) rs373826197 0.00003
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His) rs373006852 0.00003
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys) rs780206104 0.00003
NM_004370.6(COL12A1):c.492T>C (p.Ala164=) rs748734386 0.00003
NM_004370.6(COL12A1):c.5394+10T>A rs890398079 0.00003
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=) rs372356221 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile) rs778672810 0.00003
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His) rs751986784 0.00003
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=) rs199632288 0.00003
NM_004370.6(COL12A1):c.6141T>C (p.His2047=) rs773648194 0.00003
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr) rs755180015 0.00003
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu) rs771019349 0.00003
NM_004370.6(COL12A1):c.6947-6T>C rs200538799 0.00003
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=) rs373585140 0.00003
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=) rs368616942 0.00003
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser) rs766046177 0.00003
NM_004370.6(COL12A1):c.8578-4G>A rs780000164 0.00003
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=) rs751804493 0.00003
NM_004370.6(COL12A1):c.8686-5A>T rs749754621 0.00003
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=) rs768543325 0.00003
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=) rs375094592 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_004370.6(COL12A1):c.1023T>C (p.Ile341=) rs747827698 0.00002
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe) rs565496900 0.00002
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile) rs759237307 0.00002
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=) rs560103397 0.00002
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=) rs781239880 0.00002
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys) rs764727126 0.00002
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621 0.00002
NM_004370.6(COL12A1):c.191-11T>C rs765124645 0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362 0.00002
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala) rs755046298 0.00002
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=) rs1039108581 0.00002
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser) rs752941721 0.00002
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile) rs746079159 0.00002
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=) rs776558080 0.00002
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=) rs201021998 0.00002
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala) rs770324764 0.00002
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg) rs761818931 0.00002
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr) rs373583477 0.00002
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=) rs747852589 0.00002
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=) rs765497889 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=) rs1424598359 0.00002
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275 0.00002
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=) rs765327402 0.00002
NM_004370.6(COL12A1):c.3836-19C>G rs762897672 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val) rs749722543 0.00002
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys) rs780568012 0.00002
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr) rs778970645 0.00002
NM_004370.6(COL12A1):c.4148-4G>A rs146899194 0.00002
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln) rs769711983 0.00002
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His) rs1033545876 0.00002
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=) rs765983584 0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139 0.00002
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg) rs771110521 0.00002
NM_004370.6(COL12A1):c.465T>C (p.Asn155=) rs777308349 0.00002
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr) rs772069524 0.00002
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=) rs369793258 0.00002
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser) rs757815790 0.00002
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=) rs1262898971 0.00002
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973 0.00002
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys) rs368481619 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser) rs752550335 0.00002
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287 0.00002
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=) rs570972516 0.00002
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=) rs1249793538 0.00002
NM_004370.6(COL12A1):c.5524+16G>C rs755749812 0.00002
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=) rs768333048 0.00002
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=) rs774390819 0.00002
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met) rs750550229 0.00002
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg) rs764600940 0.00002
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=) rs779833436 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.5937+13G>T rs769986889 0.00002
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154 0.00002
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val) rs376192452 0.00002
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu) rs769755656 0.00002
NM_004370.6(COL12A1):c.6460+20A>G rs751297089 0.00002
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=) rs1442019750 0.00002
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=) rs1384590633 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7087-14A>G rs779399089 0.00002
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=) rs1344927209 0.00002
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=) rs777334909 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=) rs755597191 0.00002
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=) rs1768550709 0.00002
NM_004370.6(COL12A1):c.823+10G>A rs1233608917 0.00002
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=) rs555905349 0.00002
NM_004370.6(COL12A1):c.8523+11T>C rs370728186 0.00002
NM_004370.6(COL12A1):c.8523+16C>T rs751486526 0.00002
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser) rs1226171594 0.00002
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355 0.00002
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln) rs759065663 0.00002
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=) rs749317169 0.00002
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala) rs778365596 0.00002
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128 0.00002
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=) rs372365979 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=) rs374037516 0.00002
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln) rs749005420 0.00002
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg) rs762612450 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_004370.6(COL12A1):c.1006C>T (p.Pro336Ser) rs375542964 0.00001
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=) rs371748094 0.00001
NM_004370.6(COL12A1):c.1083G>A (p.Val361=) rs373691118 0.00001
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser) rs370952607 0.00001
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=) rs1769468260 0.00001
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp) rs759184281 0.00001
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn) rs563331592 0.00001
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=) rs1004269418 0.00001
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528 0.00001
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=) rs1242358815 0.00001
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=) rs769824937 0.00001
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln) rs768545712 0.00001
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=) rs748722008 0.00001
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn) rs1169546055 0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr) rs775466928 0.00001
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=) rs1769411353 0.00001
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg) rs752633980 0.00001
NM_004370.6(COL12A1):c.177G>A (p.Val59=) rs772158281 0.00001
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=) rs552726593 0.00001
NM_004370.6(COL12A1):c.18C>T (p.Pro6=) rs1427431369 0.00001
NM_004370.6(COL12A1):c.191-12T>C rs772991479 0.00001
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys) rs760872362 0.00001
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser) rs1436987187 0.00001
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=) rs779972390 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=) rs759595683 0.00001
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310 0.00001
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=) rs770644269 0.00001
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu) rs770965835 0.00001
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=) rs1582185053 0.00001
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=) rs752359605 0.00001
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu) rs772979149 0.00001
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val) rs769631929 0.00001
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=) rs781557444 0.00001
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val) rs770970810 0.00001
NM_004370.6(COL12A1):c.2577C>T (p.Val859=) rs902436577 0.00001
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter) rs765303183 0.00001
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=) rs756052823 0.00001
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=) rs1420771479 0.00001
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=) rs780559642 0.00001
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=) rs760141819 0.00001
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=) rs777357134 0.00001
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=) rs910433493 0.00001
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His) rs752304678 0.00001
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn) rs778135297 0.00001
NM_004370.6(COL12A1):c.334+8C>T rs1359112911 0.00001
NM_004370.6(COL12A1):c.335-16T>C rs1286151975 0.00001
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu) rs1029379585 0.00001
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=) rs1420617553 0.00001
NM_004370.6(COL12A1):c.3443+10A>T rs1217280037 0.00001
NM_004370.6(COL12A1):c.3443+15C>T rs762336310 0.00001
NM_004370.6(COL12A1):c.3444-8C>T rs765303217 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn) rs370641424 0.00001
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp) rs746929943 0.00001
NM_004370.6(COL12A1):c.363G>A (p.Val121=) rs559388395 0.00001
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540 0.00001
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=) rs374534617 0.00001
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893 0.00001
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=) rs770806561 0.00001
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782 0.00001
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys) rs764448554 0.00001
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys) rs1194355123 0.00001
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=) rs531318332 0.00001
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906 0.00001
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=) rs751690563 0.00001
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247 0.00001
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=) rs771642899 0.00001
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=) rs1171598389 0.00001
NM_004370.6(COL12A1):c.417T>A (p.Thr139=) rs777652114 0.00001
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile) rs772461470 0.00001
NM_004370.6(COL12A1):c.4288-6C>T rs768371908 0.00001
NM_004370.6(COL12A1):c.42G>A (p.Ala14=) rs758961396 0.00001
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=) rs749367997 0.00001
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927 0.00001
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=) rs749957138 0.00001
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355 0.00001
NM_004370.6(COL12A1):c.4417+15_4417+19del rs768514093 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=) rs372904002 0.00001
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178 0.00001
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=) rs1267756642 0.00001
NM_004370.6(COL12A1):c.4560+10G>C rs372490462 0.00001
NM_004370.6(COL12A1):c.4561-15C>T rs777154641 0.00001
NM_004370.6(COL12A1):c.4561-4G>A rs148650016 0.00001
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn) rs76453279 0.00001
NM_004370.6(COL12A1):c.4690+7T>C rs1364868781 0.00001
NM_004370.6(COL12A1):c.4690+8A>T rs760044445 0.00001
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=) rs1429126907 0.00001
NM_004370.6(COL12A1):c.4737C>T (p.His1579=) rs765450196 0.00001
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=) rs1464793469 0.00001
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=) rs749072028 0.00001
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln) rs781463654 0.00001
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228 0.00001
NM_004370.6(COL12A1):c.4827+16T>C rs535965773 0.00001
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446 0.00001
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=) rs767188736 0.00001
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=) rs1219807352 0.00001
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=) rs762832336 0.00001
NM_004370.6(COL12A1):c.4957+10G>C rs1172874533 0.00001
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593 0.00001
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=) rs1301829570 0.00001
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=) rs757968333 0.00001
NM_004370.6(COL12A1):c.5098-14C>T rs370402417 0.00001
NM_004370.6(COL12A1):c.5098-5C>T rs766762283 0.00001
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr) rs780886772 0.00001
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975 0.00001
NM_004370.6(COL12A1):c.5252-12A>C rs747721408 0.00001
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467 0.00001
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=) rs1422128161 0.00001
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=) rs750914354 0.00001
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr) rs1464239210 0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu) rs757825778 0.00001
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys) rs773807635 0.00001
NM_004370.6(COL12A1):c.5664+14G>T rs371510068 0.00001
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428 0.00001
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn) rs759905934 0.00001
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=) rs369481796 0.00001
NM_004370.6(COL12A1):c.5795-14C>T rs1178311224 0.00001
NM_004370.6(COL12A1):c.5938-7C>T rs1343757913 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp) rs199501842 0.00001
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896 0.00001
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=) rs762626921 0.00001
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=) rs764896298 0.00001
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913 0.00001
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser) rs202186932 0.00001
NM_004370.6(COL12A1):c.6211-4A>G rs762268779 0.00001
NM_004370.6(COL12A1):c.6340+12G>A rs749187959 0.00001
NM_004370.6(COL12A1):c.6340+19C>T rs1244591730 0.00001
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe) rs772205982 0.00001
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu) rs186836845 0.00001
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375 0.00001
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys) rs776701367 0.00001
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=) rs763927693 0.00001
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=) rs1458129254 0.00001
NM_004370.6(COL12A1):c.6724+13A>G rs757071502 0.00001
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=) rs1420789055 0.00001
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=) rs781120781 0.00001
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=) rs754181144 0.00001
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=) rs1189256592 0.00001
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln) rs374405599 0.00001
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=) rs1227090004 0.00001
NM_004370.6(COL12A1):c.7210+9A>G rs369099620 0.00001
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=) rs368333381 0.00001
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586 0.00001
NM_004370.6(COL12A1):c.74-19T>C rs564822630 0.00001
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln) rs747410893 0.00001
NM_004370.6(COL12A1):c.7437C>T (p.His2479=) rs775670738 0.00001
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=) rs745549241 0.00001
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=) rs778626937 0.00001
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met) rs572216195 0.00001
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=) rs895079123 0.00001
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511 0.00001
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys) rs777688811 0.00001
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=) rs1157317368 0.00001
NM_004370.6(COL12A1):c.75T>C (p.Val25=) rs749054316 0.00001
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=) rs748445921 0.00001
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=) rs747657598 0.00001
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val) rs199660424 0.00001
NM_004370.6(COL12A1):c.801T>C (p.Val267=) rs781375448 0.00001
NM_004370.6(COL12A1):c.804A>G (p.Gly268=) rs754993343 0.00001
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=) rs367966608 0.00001
NM_004370.6(COL12A1):c.8100+14T>A rs750417570 0.00001
NM_004370.6(COL12A1):c.8101-16T>C rs757858823 0.00001
NM_004370.6(COL12A1):c.810A>G (p.Glu270=) rs1326391180 0.00001
NM_004370.6(COL12A1):c.8266-10T>C rs377345950 0.00001
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=) rs780813814 0.00001
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=) rs767957084 0.00001
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=) rs553998601 0.00001
NM_004370.6(COL12A1):c.8470-5T>G rs776830409 0.00001
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954 0.00001
NM_004370.6(COL12A1):c.8523+8T>C rs752217139 0.00001
NM_004370.6(COL12A1):c.8577+14G>A rs775776703 0.00001
NM_004370.6(COL12A1):c.8649+7G>A rs1274498192 0.00001
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys) rs1381259753 0.00001
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=) rs376238729 0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390 0.00001
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser) rs201760746 0.00001
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu) rs751306147 0.00001
NM_004370.6(COL12A1):c.912A>G (p.Ala304=) rs767135101 0.00001
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr) rs774136306 0.00001
NM_004370.6(COL12A1):c.979T>C (p.Leu327=) rs768698427 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
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=)
NM_004370.6(COL12A1):c.108A>C (p.Ile36=)
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=) rs2149467427
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln)
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=)
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=) rs2149467274
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=)
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=) rs2149467222
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys) rs201657256
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=) rs763051678
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu) rs775157077
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser)
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=) rs2149467023
NM_004370.6(COL12A1):c.1288+12T>G
NM_004370.6(COL12A1):c.1288+15G>A
NM_004370.6(COL12A1):c.1288+18T>C
NM_004370.6(COL12A1):c.1289-13T>G
NM_004370.6(COL12A1):c.1289-15T>C rs2149466614
NM_004370.6(COL12A1):c.1289-17T>A
NM_004370.6(COL12A1):c.1289-19A>G
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=) rs372285460
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=)
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=) rs2149466384
NM_004370.6(COL12A1):c.141A>G (p.Lys47=) rs2149482731
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=) rs762385473
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=) rs533536940
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=)
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=)
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=) rs1003898953
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=) rs761187970
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=) rs2149465844
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=)
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=) rs2149465802
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
NM_004370.6(COL12A1):c.1707T>C (p.Val569=)
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)
NM_004370.6(COL12A1):c.1785T>C (p.His595=) rs2149465524
NM_004370.6(COL12A1):c.1788G>A (p.Val596=)
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=)
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=) rs1484924756
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=)
NM_004370.6(COL12A1):c.1891+13T>C
NM_004370.6(COL12A1):c.1891+14G>A
NM_004370.6(COL12A1):c.1891+17A>G
NM_004370.6(COL12A1):c.1892-14_1892-13insA
NM_004370.6(COL12A1):c.1892-6dup rs753233369
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT rs560088357
NM_004370.6(COL12A1):c.190+11A>G
NM_004370.6(COL12A1):c.190+18G>A
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)
NM_004370.6(COL12A1):c.191-16C>A rs2149479283
NM_004370.6(COL12A1):c.191-8A>G
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=) rs2149462302
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=) rs1039108581
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)
NM_004370.6(COL12A1):c.207A>G (p.Glu69=) rs2149479234
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=) rs2149461949
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=) rs2149461922
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=)
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
NM_004370.6(COL12A1):c.2164+8G>C
NM_004370.6(COL12A1):c.2165-4T>C
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr) rs984509796
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser) rs984509796
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=)
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser)
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=) rs2149456961
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=)
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=) rs982309132
NM_004370.6(COL12A1):c.228C>T (p.Thr76=) rs1432448789
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=) rs2149456858
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=) rs750671040
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
NM_004370.6(COL12A1):c.2437+18A>G
NM_004370.6(COL12A1):c.2438-11T>C
NM_004370.6(COL12A1):c.2438-14A>C
NM_004370.6(COL12A1):c.2438-20G>A
NM_004370.6(COL12A1):c.2438-5T>C rs1768879542
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg)
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=) rs374489011
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=) rs372378385
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=) rs775341470
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met) rs764066205
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=) rs2149451975
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=) rs2149451941
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala) rs1277353575
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.2710+17_2710+18insTA
NM_004370.6(COL12A1):c.2710+7A>G rs969629618
NM_004370.6(COL12A1):c.2710+8C>A
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA rs2149451710
NM_004370.6(COL12A1):c.2711-9C>A rs2149439017
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=) rs1768261405
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=)
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=)
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His) rs779848906
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=)
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=) rs375540397
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=)
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=) rs930413173
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala)
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=)
NM_004370.6(COL12A1):c.2983+11T>C
NM_004370.6(COL12A1):c.2983+12_2983+14del
NM_004370.6(COL12A1):c.2983+17G>A
NM_004370.6(COL12A1):c.2984-18C>A
NM_004370.6(COL12A1):c.2984-18C>G
NM_004370.6(COL12A1):c.2984-7C>T
NM_004370.6(COL12A1):c.2984-8T>C
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=) rs753423916
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile) rs200985706
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=) rs1582146956
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln) rs577784031
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile)
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=)
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
NM_004370.6(COL12A1):c.3250+16T>G rs1554183547
NM_004370.6(COL12A1):c.3250+7AAT[2] rs778868677
NM_004370.6(COL12A1):c.3251-8C>T rs754632351
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=)
NM_004370.6(COL12A1):c.330A>G (p.Leu110=) rs2149479020
NM_004370.6(COL12A1):c.334+13A>T rs991483498
NM_004370.6(COL12A1):c.335-15A>G
NM_004370.6(COL12A1):c.335-22TAA[2]
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=) rs776878636
NM_004370.6(COL12A1):c.3366C>T (p.His1122=) rs2149423139
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=) rs749287034
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=)
NM_004370.6(COL12A1):c.33C>G (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.33C>T (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=) rs752420015
NM_004370.6(COL12A1):c.342A>G (p.Thr114=) rs2149478404
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)
NM_004370.6(COL12A1):c.3443+20G>A
NM_004370.6(COL12A1):c.3444-15A>G
NM_004370.6(COL12A1):c.3444-17A>G
NM_004370.6(COL12A1):c.3444-19A>G
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=)
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His) rs764153192
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=) rs1582143439
NM_004370.6(COL12A1):c.3565+11G>A
NM_004370.6(COL12A1):c.3566-15T>C
NM_004370.6(COL12A1):c.3566-19C>G
NM_004370.6(COL12A1):c.3566-5G>A rs2149417897
NM_004370.6(COL12A1):c.3566-6T>C
NM_004370.6(COL12A1):c.3566-7A>G
NM_004370.6(COL12A1):c.3566-8C>T
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=)
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)
NM_004370.6(COL12A1):c.3715+17T>C
NM_004370.6(COL12A1):c.3715+18T>C
NM_004370.6(COL12A1):c.3716-10G>T
NM_004370.6(COL12A1):c.3716-20T>C rs1176638204
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3835+18G>A
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=)
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)
NM_004370.6(COL12A1):c.394+11C>T
NM_004370.6(COL12A1):c.394+16A>G
NM_004370.6(COL12A1):c.394+16A>T
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=) rs570245614
NM_004370.6(COL12A1):c.395-19G>C
NM_004370.6(COL12A1):c.395-19G>T
NM_004370.6(COL12A1):c.395-9G>A
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)
NM_004370.6(COL12A1):c.4000+14A>G
NM_004370.6(COL12A1):c.4000+15G>T
NM_004370.6(COL12A1):c.4000+18C>T
NM_004370.6(COL12A1):c.4001-6T>C
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=) rs1425739513
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile)
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=) rs1582137847
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=) rs2149415478
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=)
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=) rs992754948
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=)
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)
NM_004370.6(COL12A1):c.4147+17G>A
NM_004370.6(COL12A1):c.4148-15dup rs1227725033
NM_004370.6(COL12A1):c.4148-20C>A rs1767317341
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=) rs754233830
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=) rs2149410580
NM_004370.6(COL12A1):c.423G>A (p.Leu141=) rs755912419
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=) rs2149410457
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=) rs1767306131
NM_004370.6(COL12A1):c.4287+11A>G
NM_004370.6(COL12A1):c.4287+14C>A
NM_004370.6(COL12A1):c.4287+15C>G
NM_004370.6(COL12A1):c.4288-10T>C rs776440408
NM_004370.6(COL12A1):c.4288-15A>G rs2149409487
NM_004370.6(COL12A1):c.4288-19G>C rs1554182346
NM_004370.6(COL12A1):c.4288-6C>G
NM_004370.6(COL12A1):c.4288-9T>C rs1582131968
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=) rs2149409419
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=) rs975876036
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=) rs2149409308
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=) rs2149409171
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=)
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=)
NM_004370.6(COL12A1):c.4417+9G>A
NM_004370.6(COL12A1):c.4418-18G>C
NM_004370.6(COL12A1):c.4418-20C>G rs2149407223
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn) rs771864984
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=) rs763276220
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=)
NM_004370.6(COL12A1):c.4473T>C (p.His1491=)
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=) rs2149407078
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=)
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
NM_004370.6(COL12A1):c.4560+14G>A
NM_004370.6(COL12A1):c.4561-18C>T
NM_004370.6(COL12A1):c.4561-6G>A rs560550352
NM_004370.6(COL12A1):c.4561-7T>C
NM_004370.6(COL12A1):c.4561-7_4561-2del rs1582127639
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly) rs574863380
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=) rs1767129736
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=)
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.459A>G (p.Arg153=)
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys) rs373216375
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln) rs754993978
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=) rs2149405550
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=) rs1767121915
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
NM_004370.6(COL12A1):c.4690+17T>C
NM_004370.6(COL12A1):c.4690+19T>C
NM_004370.6(COL12A1):c.4690+9C>T
NM_004370.6(COL12A1):c.4691-13C>G
NM_004370.6(COL12A1):c.4691-13C>T
NM_004370.6(COL12A1):c.4691-16T>G rs750281471
NM_004370.6(COL12A1):c.4691-20A>C
NM_004370.6(COL12A1):c.46C>T (p.Leu16=)
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=) rs1361287372
NM_004370.6(COL12A1):c.4827+12A>G
NM_004370.6(COL12A1):c.4827+16T>G
NM_004370.6(COL12A1):c.4828-19T>C
NM_004370.6(COL12A1):c.4828-4A>G
NM_004370.6(COL12A1):c.4828-8T>C
NM_004370.6(COL12A1):c.483C>T (p.Asp161=) rs1769829163
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn)
NM_004370.6(COL12A1):c.489T>C (p.Ile163=)
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)
NM_004370.6(COL12A1):c.4958-16C>T
NM_004370.6(COL12A1):c.4958-4A>T
NM_004370.6(COL12A1):c.4958-7A>G rs1332779
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=)
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=)
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=)
NM_004370.6(COL12A1):c.504T>G (p.Ser168=) rs371436873
NM_004370.6(COL12A1):c.5097+11C>A
NM_004370.6(COL12A1):c.5097+20T>G
NM_004370.6(COL12A1):c.5098-10T>C rs968352189
NM_004370.6(COL12A1):c.5098-17T>C
NM_004370.6(COL12A1):c.5098-19T>C
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu)
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=) rs1766737359
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)
NM_004370.6(COL12A1):c.5230+12G>A
NM_004370.6(COL12A1):c.5230+17C>T
NM_004370.6(COL12A1):c.5230+20A>C
NM_004370.6(COL12A1):c.5231-8T>C rs1766724577
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=) rs979503995
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=)
NM_004370.6(COL12A1):c.5252-11T>C
NM_004370.6(COL12A1):c.5252-14C>T
NM_004370.6(COL12A1):c.5252-7C>A
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=)
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=) rs2149394288
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=) rs2149394158
NM_004370.6(COL12A1):c.5394+14A>G
NM_004370.6(COL12A1):c.5394+15A>C
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=) rs1470703983
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=) rs373978519
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.546T>G (p.Val182=) rs764254293
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=) rs1582107388
NM_004370.6(COL12A1):c.549A>G (p.Gln183=)
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)
NM_004370.6(COL12A1):c.5524+10A>G
NM_004370.6(COL12A1):c.5524+13T>G
NM_004370.6(COL12A1):c.5525-11G>A
NM_004370.6(COL12A1):c.5525-18G>T
NM_004370.6(COL12A1):c.5525-20G>A
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=) rs2149388082
NM_004370.6(COL12A1):c.561T>C (p.Asp187=)
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=)
NM_004370.6(COL12A1):c.5664+16_5664+35del rs1333051927
NM_004370.6(COL12A1):c.5665-19G>A rs903881382
NM_004370.6(COL12A1):c.5665-4T>C
NM_004370.6(COL12A1):c.5665-6C>A
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=)
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=) rs1582103755
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=) rs780813171
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=)
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=)
NM_004370.6(COL12A1):c.5794+13G>A
NM_004370.6(COL12A1):c.5794+17A>G
NM_004370.6(COL12A1):c.5795-16G>A
NM_004370.6(COL12A1):c.580T>C (p.Leu194=) rs2149475695
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=)
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=)
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser) rs191233787
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn) rs771175230
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=) rs594012
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)
NM_004370.6(COL12A1):c.5937+14T>A rs2149385207
NM_004370.6(COL12A1):c.5937+17T>C rs1023564287
NM_004370.6(COL12A1):c.5938-9C>G
NM_004370.6(COL12A1):c.5938-9C>T rs1166562974
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=) rs770005423
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser) rs373170333
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=)
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=)
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=)
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=) rs111547439
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln) rs1265886692
NM_004370.6(COL12A1):c.600G>A (p.Arg200=) rs2149475654
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=)
NM_004370.6(COL12A1):c.6067+12A>G
NM_004370.6(COL12A1):c.6067+19C>A
NM_004370.6(COL12A1):c.6068-15A>G
NM_004370.6(COL12A1):c.6068-16T>C
NM_004370.6(COL12A1):c.6068-20A>G
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=) rs909100621
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=)
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=)
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg)
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=)
NM_004370.6(COL12A1):c.6210+10A>T
NM_004370.6(COL12A1):c.6210+16A>G
NM_004370.6(COL12A1):c.6210+17T>C
NM_004370.6(COL12A1):c.6210+20A>T rs377223538
NM_004370.6(COL12A1):c.6211-10T>A
NM_004370.6(COL12A1):c.6211-19A>C
NM_004370.6(COL12A1):c.6211-6C>G
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=) rs2149379927
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=)
NM_004370.6(COL12A1):c.6318T>C (p.His2106=)
NM_004370.6(COL12A1):c.6340+12G>C
NM_004370.6(COL12A1):c.6340+14A>G
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His) rs1424010902
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=) rs371734128
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg)
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=) rs757397618
NM_004370.6(COL12A1):c.6460+10_6460+11dup rs2149377067
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=)
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=) rs1486712607
NM_004370.6(COL12A1):c.658+10A>G rs2149475491
NM_004370.6(COL12A1):c.658+13G>A
NM_004370.6(COL12A1):c.658+13G>T
NM_004370.6(COL12A1):c.659-8C>T
NM_004370.6(COL12A1):c.6607+14A>T
NM_004370.6(COL12A1):c.6607+16T>A
NM_004370.6(COL12A1):c.6607+7C>T
NM_004370.6(COL12A1):c.6608-19T>C rs2149374329
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=) rs2149374132
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)
NM_004370.6(COL12A1):c.6724+11A>G rs1398653047
NM_004370.6(COL12A1):c.6725-14G>A
NM_004370.6(COL12A1):c.6725-16T>C
NM_004370.6(COL12A1):c.6725-18C>A
NM_004370.6(COL12A1):c.6725-6_6725-4del rs2149373848
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=) rs1765889227
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=) rs2149373749
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=) rs1765886657
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)
NM_004370.6(COL12A1):c.6871+14G>A
NM_004370.6(COL12A1):c.6871+20G>T
NM_004370.6(COL12A1):c.6872-14T>C
NM_004370.6(COL12A1):c.6872-15A>G
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=) rs1194108575
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA rs2149372484
NM_004370.6(COL12A1):c.6947-12C>T
NM_004370.6(COL12A1):c.6947-5T>C
NM_004370.6(COL12A1):c.6947-6T>G rs200538799
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=) rs1364212431
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=) rs2149369622
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=)
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile)
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=) rs2149369561
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=) rs1055080261
NM_004370.6(COL12A1):c.7086+10del
NM_004370.6(COL12A1):c.7086+15G>A
NM_004370.6(COL12A1):c.7086+20T>A
NM_004370.6(COL12A1):c.7087-11T>A rs2149366872
NM_004370.6(COL12A1):c.7087-16del
NM_004370.6(COL12A1):c.7087-20C>T
NM_004370.6(COL12A1):c.7087-6C>T
NM_004370.6(COL12A1):c.7087-8T>C
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=) rs2149366781
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=) rs2149366759
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=) rs2149366746
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=) rs2149366727
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
NM_004370.6(COL12A1):c.7210+19C>G rs747884107
NM_004370.6(COL12A1):c.7210+7G>A
NM_004370.6(COL12A1):c.7211-11A>G
NM_004370.6(COL12A1):c.7211-16A>G
NM_004370.6(COL12A1):c.7211-19T>C
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=) rs2149366384
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.73+16C>T
NM_004370.6(COL12A1):c.73+19C>T
NM_004370.6(COL12A1):c.73+8G>A
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=) rs2149366203
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
NM_004370.6(COL12A1):c.7355-11C>T
NM_004370.6(COL12A1):c.7355-17T>C
NM_004370.6(COL12A1):c.7355-18A>C
NM_004370.6(COL12A1):c.7355-19T>G
NM_004370.6(COL12A1):c.7355-4G>T rs2149363736
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=)
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)
NM_004370.6(COL12A1):c.74-15CT[3] rs756206757
NM_004370.6(COL12A1):c.74-18A>G rs2149482912
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=)
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=) rs2149363505
NM_004370.6(COL12A1):c.7519+17A>G rs2149363447
NM_004370.6(COL12A1):c.7519+18T>A
NM_004370.6(COL12A1):c.7520-11G>A
NM_004370.6(COL12A1):c.7520-4G>A
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
NM_004370.6(COL12A1):c.7558+17T>C rs1323169221
NM_004370.6(COL12A1):c.7559-6G>A
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=) rs2149361484
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=) rs778124838
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=) rs2149361397
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)
NM_004370.6(COL12A1):c.765T>C (p.Asp255=) rs2149475018
NM_004370.6(COL12A1):c.7697+18_7697+20del
NM_004370.6(COL12A1):c.7697+19G>A
NM_004370.6(COL12A1):c.7698-10T>C
NM_004370.6(COL12A1):c.7698-14G>T
NM_004370.6(COL12A1):c.7698-18_7698-15del
NM_004370.6(COL12A1):c.7698-6C>T rs1582070030
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=) rs772064054
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=) rs745685013
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=)
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=) rs1768943747
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
NM_004370.6(COL12A1):c.7840+9T>G rs774128333
NM_004370.6(COL12A1):c.7841-18C>T
NM_004370.6(COL12A1):c.7841-4A>G
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=) rs201337277
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.789G>A (p.Glu263=) rs2149474985
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)
NM_004370.6(COL12A1):c.7950+10_7950+11del rs762026995
NM_004370.6(COL12A1):c.7951-14_7951-13del rs745783404
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu)
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=)
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=) rs2149353076
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=) rs2149352990
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=)
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
NM_004370.6(COL12A1):c.8178+16T>C
NM_004370.6(COL12A1):c.8179-12T>C
NM_004370.6(COL12A1):c.8179-15T>C
NM_004370.6(COL12A1):c.8179-16C>A
NM_004370.6(COL12A1):c.8179-20T>C
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)
NM_004370.6(COL12A1):c.823+15G>C
NM_004370.6(COL12A1):c.823+15G>T
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA
NM_004370.6(COL12A1):c.823+19A>G
NM_004370.6(COL12A1):c.823+8A>C rs1769795222
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=) rs1582055336
NM_004370.6(COL12A1):c.824-20C>G
NM_004370.6(COL12A1):c.824-20C>T rs369499035
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)
NM_004370.6(COL12A1):c.8265+11T>C rs775543292
NM_004370.6(COL12A1):c.8265+20T>A
NM_004370.6(COL12A1):c.8266-14T>A
NM_004370.6(COL12A1):c.8266-8T>C
NM_004370.6(COL12A1):c.8319+16_8319+17del
NM_004370.6(COL12A1):c.8319+17G>A
NM_004370.6(COL12A1):c.8320-12del rs1436326715
NM_004370.6(COL12A1):c.8320-16C>G
NM_004370.6(COL12A1):c.8320-9G>A
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)
NM_004370.6(COL12A1):c.8415+12G>A rs2149344185
NM_004370.6(COL12A1):c.8415+13C>T rs2149344182
NM_004370.6(COL12A1):c.8415+17T>C rs2149344172
NM_004370.6(COL12A1):c.8415+18C>T
NM_004370.6(COL12A1):c.8416-17C>T
NM_004370.6(COL12A1):c.8416-8C>A rs775559307
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)
NM_004370.6(COL12A1):c.8469+20G>T rs1768324536
NM_004370.6(COL12A1):c.8470-12C>T
NM_004370.6(COL12A1):c.8470-4G>T
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=)
NM_004370.6(COL12A1):c.8523+17del
NM_004370.6(COL12A1):c.8524-10T>G
NM_004370.6(COL12A1):c.8524-12dup rs1261200705
NM_004370.6(COL12A1):c.8524-15dup rs2149337428
NM_004370.6(COL12A1):c.8524-6C>A rs777596531
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=)
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu)
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)
NM_004370.6(COL12A1):c.8577+20C>T
NM_004370.6(COL12A1):c.8578-19C>G
NM_004370.6(COL12A1):c.8578-8T>C rs2149333586
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=) rs189999387
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=)
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=)
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His)
NM_004370.6(COL12A1):c.8649+10C>G
NM_004370.6(COL12A1):c.8649+13C>A
NM_004370.6(COL12A1):c.8649+13C>G
NM_004370.6(COL12A1):c.8649+16G>C
NM_004370.6(COL12A1):c.8650-14T>A
NM_004370.6(COL12A1):c.8650-19T>C
NM_004370.6(COL12A1):c.8650-20A>C rs1281657456
NM_004370.6(COL12A1):c.867C>T (p.Ser289=)
NM_004370.6(COL12A1):c.8685+13A>T
NM_004370.6(COL12A1):c.8685+17A>G
NM_004370.6(COL12A1):c.8685+18A>G rs2149328733
NM_004370.6(COL12A1):c.8685+8T>C rs763115734
NM_004370.6(COL12A1):c.8686-6A>G
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)
NM_004370.6(COL12A1):c.8752+14T>C
NM_004370.6(COL12A1):c.8752+15C>G
NM_004370.6(COL12A1):c.8752+18T>C
NM_004370.6(COL12A1):c.8752+9del
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His)
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=) rs2149327016
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=) rs2149327011
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu)
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=) rs2149326931
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=) rs942666795
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=) rs774577979
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=) rs760317754
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=) rs2149326803
NM_004370.6(COL12A1):c.892A>C (p.Asn298His) rs1404705545
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=) rs2149326774
NM_004370.6(COL12A1):c.8941+14G>C
NM_004370.6(COL12A1):c.8941+16T>C
NM_004370.6(COL12A1):c.8942-14T>G
NM_004370.6(COL12A1):c.8942-5C>A
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=) rs1281725784
NM_004370.6(COL12A1):c.9011-20T>A rs1336319358
NM_004370.6(COL12A1):c.9011-20_9011-19del
NM_004370.6(COL12A1):c.9011-8C>T
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=) rs572512247
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=) rs1448973629
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)
NM_004370.6(COL12A1):c.9181+11G>A
NM_004370.6(COL12A1):c.9181+16T>C
NM_004370.6(COL12A1):c.9181+18T>C
NM_004370.6(COL12A1):c.9181+20G>A
NM_004370.6(COL12A1):c.9182-11A>G
NM_004370.6(COL12A1):c.9182-19C>A rs1767498861
NM_004370.6(COL12A1):c.939C>T (p.Ile313=)
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)
NM_004370.6(COL12A1):c.997+15T>G rs2149473736
NM_004370.6(COL12A1):c.997+7A>G
NM_004370.6(COL12A1):c.997+9A>G rs560228996
NM_004370.6(COL12A1):c.998-15C>T
NM_004370.6(COL12A1):c.998-17T>C

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