ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6273
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_001367624.2(ZNF469):c.*634C>A rs74032868 0.03588
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_018699.4(PRDM5):c.*120T>C rs77157999 0.01181
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
NM_001367624.2(ZNF469):c.*665G>A rs75706884 0.00863
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982 0.00854
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) rs139066376 0.00852
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) rs116213189 0.00697
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_001367624.2(ZNF469):c.*264A>G rs193210256 0.00591
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=) rs113227277 0.00590
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_001367624.2(ZNF469):c.*599C>G rs146233624 0.00440
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) rs186652137 0.00374
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr) rs376054177 0.00353
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409 0.00349
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927 0.00344
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr) rs144986357 0.00330
NM_014244.5(ADAMTS2):c.*1639C>T rs138971097 0.00330
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00287
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404 0.00271
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser) rs184894059 0.00268
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser) rs573884006 0.00266
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_014244.5(ADAMTS2):c.*2854T>C rs11740156 0.00252
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001367624.2(ZNF469):c.*420G>A rs45532839 0.00219
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_001367624.2(ZNF469):c.*421G>T rs148260049 0.00207
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) rs201943633 0.00196
NM_001367624.2(ZNF469):c.*518G>A rs563015267 0.00189
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser) rs138954293 0.00180
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_001365276.2(TNXB):c.5136C>T (p.Asp1712=) rs140160519 0.00169
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn) rs758419331 0.00169
NM_001365276.2(TNXB):c.2811C>A (p.Thr937=) rs140665128 0.00166
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628 0.00148
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr) rs142409885 0.00139
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591 0.00135
NM_001367624.2(ZNF469):c.726C>T (p.Ser242=) rs555256402 0.00135
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_014244.5(ADAMTS2):c.*2853G>A rs565652629 0.00121
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) rs536725615 0.00115
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_001367624.2(ZNF469):c.10710G>A (p.Ala3570=) rs548910839 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) rs373162171 0.00101
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961 0.00100
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys) rs201690494 0.00096
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00093
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00093
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg) rs200519530 0.00088
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965 0.00087
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_014244.5(ADAMTS2):c.*2598A>G rs371733200 0.00083
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn) rs1254121532 0.00082
NM_001365276.2(TNXB):c.1952T>C (p.Met651Thr) rs200369087 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) rs533944505 0.00078
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_018699.3(PRDM5):c.-234C>T rs111704622 0.00077
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp) rs201647307 0.00076
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_014244.5(ADAMTS2):c.*183T>C rs184732586 0.00073
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_018699.3(PRDM5):c.-172C>T rs558723351 0.00072
NM_001365276.2(TNXB):c.9946G>A (p.Ala3316Thr) rs201452909 0.00070
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) rs146228268 0.00070
NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr) rs201121030 0.00068
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384 0.00068
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu) rs185207099 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_014244.5(ADAMTS2):c.*1919T>G rs574968586 0.00066
NM_014244.5(ADAMTS2):c.*707A>G rs149592164 0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_001367624.2(ZNF469):c.*1071A>T rs536887736 0.00065
NM_000093.5(COL5A1):c.-364G>C rs780212970 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722 0.00062
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777 0.00061
NM_001365276.2(TNXB):c.10111G>A (p.Val3371Met) rs201155046 0.00061
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575 0.00061
NM_014244.5(ADAMTS2):c.*524G>A rs565021011 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000093.5(COL5A1):c.*2485G>A rs146334187 0.00057
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_001365276.2(TNXB):c.10151C>G (p.Ser3384Cys) rs200580526 0.00057
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168 0.00056
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn) rs201764050 0.00054
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg) rs149649831 0.00052
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) rs202227084 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001365276.2(TNXB):c.9421T>A (p.Ser3141Thr) rs200416489 0.00050
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) rs756778483 0.00049
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=) rs764487066 0.00049
NM_001365276.2(TNXB):c.9333C>T (p.Asp3111=) rs201708930 0.00048
NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu) rs766874405 0.00047
NM_001365276.2(TNXB):c.8484A>C (p.Ala2828=) rs367949241 0.00047
NM_014244.5(ADAMTS2):c.*813G>C rs577299266 0.00046
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) rs144629123 0.00046
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr) rs557997233 0.00045
NM_001367624.2(ZNF469):c.8695G>A (p.Gly2899Ser) rs202129382 0.00045
NM_001733.7(C1R):c.277G>T (p.Gly93Cys) rs200185988 0.00045
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762 0.00044
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) rs369143302 0.00043
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val) rs201037895 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His) rs41270454 0.00041
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_014244.5(ADAMTS2):c.-13C>A rs886060499 0.00040
NM_000088.4(COL1A1):c.-66G>A rs565562045 0.00039
NM_000093.5(COL5A1):c.*55G>A rs533831376 0.00039
NM_001365276.2(TNXB):c.8468-1G>A rs200718357 0.00039
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) rs199626372 0.00038
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_001367624.2(ZNF469):c.6696C>T (p.Ser2232=) rs377506846 0.00037
NM_000088.4(COL1A1):c.*1087C>T rs557843360 0.00036
NM_000090.4(COL3A1):c.*467T>A rs886055341 0.00036
NM_001365276.2(TNXB):c.9255C>G (p.Gly3085=) rs368339464 0.00036
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn) rs373777402 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_018699.4(PRDM5):c.1189-14T>C rs375296023 0.00036
NM_001365276.2(TNXB):c.8300C>T (p.Thr2767Ile) rs201649053 0.00035
NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser) rs200708257 0.00035
NM_014244.5(ADAMTS2):c.*2595C>T rs188054405 0.00035
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271 0.00034
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_000088.4(COL1A1):c.*631G>A rs569577942 0.00033
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn) rs138399615 0.00033
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00032
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00031
NM_001367624.2(ZNF469):c.1689C>T (p.Phe563=) rs751136702 0.00031
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val) rs139043003 0.00031
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp) rs41284943 0.00031
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_001365276.2(TNXB):c.5084C>T (p.Thr1695Met) rs201973085 0.00029
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962 0.00029
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu) rs757999676 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His) rs201998372 0.00029
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe) rs61995938 0.00028
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117 0.00028
NM_018699.4(PRDM5):c.1031-15T>C rs201474353 0.00028
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg) rs183149417 0.00026
NM_001367624.2(ZNF469):c.4855G>A (p.Glu1619Lys) rs759327672 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_007255.3(B4GALT7):c.49A>G (p.Arg17Gly) rs774824237 0.00025
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg) rs200319996 0.00024
NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met) rs367661800 0.00024
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln) rs200522966 0.00024
NM_001365276.2(TNXB):c.9897G>A (p.Ala3299=) rs373655652 0.00024
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) rs142885560 0.00024
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_001365276.2(TNXB):c.6358G>A (p.Gly2120Ser) rs777574450 0.00023
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=) rs145016043 0.00023
NM_018699.4(PRDM5):c.-61G>C rs556802821 0.00023
NM_000093.5(COL5A1):c.-139G>T rs886063672 0.00022
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_001365276.2(TNXB):c.2325C>T (p.Pro775=) rs943305771 0.00022
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_001367624.2(ZNF469):c.760G>A (p.Glu254Lys) rs755977911 0.00022
NM_014244.5(ADAMTS2):c.*2302C>T rs564480935 0.00022
NM_014244.5(ADAMTS2):c.*2440G>A rs546192004 0.00022
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr) rs145336133 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_014244.5(ADAMTS2):c.759G>A (p.Ser253=) rs374180760 0.00022
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) rs201325904 0.00022
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280 0.00021
NM_000393.4(COL5A2):c.-176T>A rs570350400 0.00021
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe) rs568197988 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_013352.4(DSE):c.2129C>T (p.Ala710Val) rs533772643 0.00021
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766 0.00021
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser) rs546990509 0.00021
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn) rs200022037 0.00021
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu) rs562206142 0.00020
NM_001367624.2(ZNF469):c.*617C>T rs886052422 0.00020
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_007255.3(B4GALT7):c.700C>T (p.Arg234Cys) rs139730903 0.00020
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000093.5(COL5A1):c.*2294A>T rs571153134 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) rs145093766 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375 0.00019
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu) rs376639281 0.00019
NM_001365276.2(TNXB):c.9439+8A>G rs200282568 0.00019
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_013352.4(DSE):c.450G>A (p.Pro150=) rs773416085 0.00019
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met) rs148717330 0.00019
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) rs766643057 0.00019
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_001367624.2(ZNF469):c.4948G>A (p.Val1650Ile) rs776625365 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_000088.4(COL1A1):c.*120T>C rs773014749 0.00017
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn) rs200036158 0.00017
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln) rs200019229 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000089.3(COL1A2):c.-428G>A rs753974789 0.00016
NM_000093.5(COL5A1):c.*1734G>A rs886063688 0.00016
NM_000093.5(COL5A1):c.*1845A>G rs553877631 0.00016
NM_000093.5(COL5A1):c.*1848C>G rs886063692 0.00016
NM_000093.5(COL5A1):c.*2175G>A rs781775180 0.00016
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515 0.00016
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) rs184813324 0.00016
NM_001365276.2(TNXB):c.5965C>T (p.Arg1989Cys) rs371681556 0.00016
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092 0.00016
NM_001367624.2(ZNF469):c.4571T>G (p.Leu1524Arg) rs111916311 0.00016
NM_001367624.2(ZNF469):c.4920G>A (p.Ala1640=) rs777779701 0.00016
NM_001367624.2(ZNF469):c.963C>T (p.Gly321=) rs758193918 0.00016
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly) rs757791330 0.00016
NM_014244.5(ADAMTS2):c.1629+6G>A rs377268307 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_018699.4(PRDM5):c.1113C>A (p.Ser371Arg) rs148079992 0.00016
NM_000090.4(COL3A1):c.2229+6G>A rs10186160 0.00015
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) rs147924545 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) rs199581373 0.00015
NM_001365276.2(TNXB):c.5155G>A (p.Val1719Met) rs200125936 0.00015
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966 0.00015
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_014244.5(ADAMTS2):c.*2064A>G rs759155545 0.00015
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser) rs368690576 0.00015
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748 0.00014
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_001365276.2(TNXB):c.11387-10A>G rs549209308 0.00014
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 0.00014
NM_001733.7(C1R):c.445C>T (p.Arg149Trp) rs373462345 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_017946.4(FKBP14):c.525G>T (p.Val175=) rs747381671 0.00014
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys) rs369580755 0.00014
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp) rs148802548 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val) rs766602645 0.00013
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) rs529485424 0.00013
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00013
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His) rs758123475 0.00013
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) rs151127652 0.00013
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu) rs755244502 0.00013
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=) rs768288160 0.00013
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707 0.00013
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln) rs375644526 0.00013
NM_014244.5(ADAMTS2):c.*222C>T rs886060488 0.00013
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395 0.00013
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857 0.00013
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) rs866817984 0.00013
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00013
NM_000089.4(COL1A2):c.*545A>G rs761806166 0.00012
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr) rs143604754 0.00012
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=) rs761030884 0.00012
NM_001367624.2(ZNF469):c.*218G>A rs137889724 0.00012
NM_001367624.2(ZNF469):c.*285C>T rs35994806 0.00012
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser) rs548646578 0.00012
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr) rs746733236 0.00012
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740 0.00012
NM_001367624.2(ZNF469):c.4675G>A (p.Glu1559Lys) rs376951144 0.00012
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) rs558035857 0.00012
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256 0.00012
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=) rs369654932 0.00012
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895 0.00012
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857 0.00012
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met) rs765448220 0.00011
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp) rs1014550811 0.00011
NM_000090.4(COL3A1):c.1347+6T>C rs373343032 0.00011
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) rs144260440 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr) rs142042452 0.00011
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067 0.00011
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.2700+191C>T rs183885286 0.00011
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_001367624.2(ZNF469):c.*216G>A rs146964491 0.00011
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=) rs527707590 0.00011
NM_001367624.2(ZNF469):c.14G>A (p.Arg5His) rs762382027 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013 0.00011
NM_001367624.2(ZNF469):c.6177G>A (p.Pro2059=) rs771042751 0.00011
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=) rs561239255 0.00011
NM_001367624.2(ZNF469):c.9583C>T (p.Arg3195Cys) rs774273165 0.00011
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) rs371043332 0.00011
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) rs146336077 0.00011
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308 0.00011
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser) rs201864255 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln) rs146064587 0.00011
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) rs141850025 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) rs759357299 0.00011
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) rs374645024 0.00011
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000088.4(COL1A1):c.*502C>T rs1004356084 0.00010
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) rs138533702 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927 0.00010
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys) rs750301725 0.00010
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu) rs199623625 0.00010
NM_001365276.2(TNXB):c.10812C>T (p.Gly3604=) rs769797413 0.00010
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590 0.00010
NM_001365276.2(TNXB):c.8112C>T (p.Arg2704=) rs753413229 0.00010
NM_001367624.2(ZNF469):c.10185G>C (p.Glu3395Asp) rs149732077 0.00010
NM_001367624.2(ZNF469):c.10462G>A (p.Glu3488Lys) rs781244140 0.00010
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A rs199825726 0.00010
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185 0.00010
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493 0.00010
NM_018699.4(PRDM5):c.*154A>T rs181244989 0.00010
NM_018699.4(PRDM5):c.1031-6T>A rs753768741 0.00010
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) rs1057522880 0.00010
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val) rs766519442 0.00010
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00010
NM_000088.4(COL1A1):c.*342C>A rs1253268385 0.00009
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000089.4(COL1A2):c.2275G>A (p.Val759Ile) rs200501072 0.00009
NM_000089.4(COL1A2):c.2500G>A (p.Val834Ile) rs150993338 0.00009
NM_000089.4(COL1A2):c.2645G>A (p.Arg882His) rs140368271 0.00009
NM_000089.4(COL1A2):c.3077A>G (p.Asn1026Ser) rs369457688 0.00009
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000090.4(COL3A1):c.-101G>A rs41265577 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769 0.00009
NM_000090.4(COL3A1):c.528+4C>T rs528758308 0.00009
NM_000093.5(COL5A1):c.*1887G>A rs886063693 0.00009
NM_000093.5(COL5A1):c.*2410C>G rs886063694 0.00009
NM_000093.5(COL5A1):c.*68C>T rs886063679 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000302.4(PLOD1):c.*721T>G rs142707437 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met) rs752708558 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000393.5(COL5A2):c.*126A>G rs755412373 0.00009
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) rs771249673 0.00009
NM_001365276.2(TNXB):c.8726A>G (p.Lys2909Arg) rs372398179 0.00009
NM_001367624.2(ZNF469):c.*492G>A rs190108769 0.00009
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=) rs577775261 0.00009
NM_001367624.2(ZNF469):c.5643C>T (p.Pro1881=) rs539613654 0.00009
NM_001367624.2(ZNF469):c.7005C>T (p.Ala2335=) rs576401425 0.00009
NM_001367624.2(ZNF469):c.7953C>G (p.Val2651=) rs1319188011 0.00009
NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu) rs1009769670 0.00009
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=) rs533072680 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978 0.00009
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) rs535021192 0.00009
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser) rs376771433 0.00009
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) rs147451395 0.00009
NM_017946.4(FKBP14):c.179G>A (p.Gly60Asp) rs781073404 0.00009
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) rs202182643 0.00009
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) rs147796327 0.00009
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu) rs756566189 0.00009
NM_130468.4(CHST14):c.32C>T (p.Ala11Val) rs1030815676 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000089.4(COL1A2):c.2968G>T (p.Ala990Ser) rs367848162 0.00008
NM_000089.4(COL1A2):c.3676G>A (p.Val1226Ile) rs777501717 0.00008
NM_000090.4(COL3A1):c.1050+6C>T rs528634384 0.00008
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) rs146757272 0.00008
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609 0.00008
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796 0.00008
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_001128225.3(SLC39A13):c.621C>T (p.Leu207=) rs775396957 0.00008
NM_001365276.2(TNXB):c.2584C>T (p.Arg862Cys) rs570806090 0.00008
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) rs549874193 0.00008
NM_001367624.2(ZNF469):c.11503G>A (p.Gly3835Arg) rs574550673 0.00008
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001367624.2(ZNF469):c.4226C>T (p.Pro1409Leu) rs776065579 0.00008
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=) rs886052390 0.00008
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412 0.00008
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239 0.00008
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=) rs767588443 0.00008
NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg) rs374211371 0.00008
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr) rs768334305 0.00008
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403 0.00008
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331 0.00007
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000089.4(COL1A2):c.*131G>T rs777448399 0.00007
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 0.00007
NM_000090.4(COL3A1):c.*72A>G rs928894236 0.00007
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser) rs769622439 0.00007
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943 0.00007
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) rs369781295 0.00007
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
NM_000393.5(COL5A2):c.*1961T>C rs886055346 0.00007
NM_000393.5(COL5A2):c.*401A>C rs886055352 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001367624.2(ZNF469):c.1507C>T (p.Arg503Trp) rs767072775 0.00007
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=) rs373300146 0.00007
NM_001367624.2(ZNF469):c.7006C>T (p.Arg2336Cys) rs1364703200 0.00007
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=) rs551298094 0.00007
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg) rs540867293 0.00007
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met) rs368363548 0.00007
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633 0.00007
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00006
NM_000088.4(COL1A1):c.1155+12C>T rs774034198 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) rs763409550 0.00006
NM_000089.4(COL1A2):c.1566A>G (p.Pro522=) rs749869789 0.00006
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000089.4(COL1A2):c.2465G>A (p.Arg822His) rs1800240 0.00006
NM_000089.4(COL1A2):c.2527G>A (p.Ala843Thr) rs112697991 0.00006
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala) rs751201659 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile) rs142803502 0.00006
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile) rs140257722 0.00006
NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala) rs201980471 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) rs139610730 0.00006
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983 0.00006
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg) rs374537884 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=) rs372844807 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000302.4(PLOD1):c.*128A>G rs927504122 0.00006
NM_000302.4(PLOD1):c.*528G>A rs886045215 0.00006
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val) rs142916043 0.00006
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu) rs375416784 0.00006
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val) rs756600025 0.00006
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser) rs538763801 0.00006
NM_000302.4(PLOD1):c.77-7T>C rs371488160 0.00006
NM_000302.4(PLOD1):c.874G>A (p.Val292Met) rs143114026 0.00006
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp) rs11553674 0.00006
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His) rs770908923 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001365276.2(TNXB):c.11421C>T (p.Ala3807=) rs761117807 0.00006
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met) rs749925578 0.00006
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544 0.00006
NM_001367624.2(ZNF469):c.10806G>A (p.Pro3602=) rs753881778 0.00006
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) rs745385522 0.00006
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255 0.00006
NM_001367624.2(ZNF469):c.11616G>A (p.Pro3872=) rs1033054565 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys) rs188954563 0.00006
NM_001367624.2(ZNF469):c.4320G>A (p.Glu1440=) rs374090900 0.00006
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898 0.00006
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser) rs755066385 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=) rs866760637 0.00006
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=) rs762487170 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala) rs751901105 0.00006
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873 0.00006
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.2115C>G (p.Thr705=) rs763844538 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys) rs753526426 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7698-3C>T rs760246080 0.00006
NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) rs370658610 0.00006
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=) rs150487733 0.00006
NM_007255.3(B4GALT7):c.553G>A (p.Val185Met) rs137913131 0.00006
NM_007255.3(B4GALT7):c.737C>T (p.Ser246Leu) rs145692398 0.00006
NM_007255.3(B4GALT7):c.809G>A (p.Arg270His) rs369752734 0.00006
NM_007255.3(B4GALT7):c.872A>G (p.Lys291Arg) rs751742436 0.00006
NM_013352.4(DSE):c.208C>T (p.Arg70Cys) rs375337613 0.00006
NM_013352.4(DSE):c.2752A>G (p.Met918Val) rs780791978 0.00006
NM_014244.5(ADAMTS2):c.*550G>A rs753995152 0.00006
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met) rs765595538 0.00006
NM_014244.5(ADAMTS2):c.2036G>A (p.Arg679His) rs144554943 0.00006
NM_014244.5(ADAMTS2):c.2146G>A (p.Gly716Arg) rs370013405 0.00006
NM_014244.5(ADAMTS2):c.2492C>T (p.Thr831Met) rs7705437 0.00006
NM_014244.5(ADAMTS2):c.2557T>G (p.Ser853Ala) rs762463826 0.00006
NM_014244.5(ADAMTS2):c.2689G>A (p.Ala897Thr) rs748245637 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln) rs140845527 0.00006
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His) rs369215593 0.00006
NM_014244.5(ADAMTS2):c.640C>T (p.Arg214Trp) rs144732073 0.00006
NM_018699.4(PRDM5):c.*176T>C rs558671397 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_000088.4(COL1A1):c.*1151C>T rs536196631 0.00005
NM_000088.4(COL1A1):c.*1205C>G rs551536386 0.00005
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720 0.00005
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala) rs760732696 0.00005
NM_000089.4(COL1A2):c.3691A>G (p.Thr1231Ala) rs201560619 0.00005
NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser) rs774774401 0.00005
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) rs926855674 0.00005
NM_000089.4(COL1A2):c.3938T>C (p.Leu1313Pro) rs780400987 0.00005
NM_000089.4(COL1A2):c.701G>A (p.Arg234His) rs376341785 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.1235C>A (p.Ala412Asp) rs1057519250 0.00005
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln) rs200446048 0.00005
NM_000093.5(COL5A1):c.2034C>T (p.Pro678=) rs373100663 0.00005
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln) rs370305686 0.00005
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys) rs763672034 0.00005
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124 0.00005
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231 0.00005
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr) rs141881216 0.00005
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp) rs959635301 0.00005
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr) rs374739509 0.00005
NM_001365276.2(TNXB):c.4916G>A (p.Arg1639His) rs756221645 0.00005
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys) rs747880757 0.00005
NM_001365276.2(TNXB):c.8141C>T (p.Thr2714Met) rs1192872355 0.00005
NM_001365276.2(TNXB):c.8393G>A (p.Arg2798His) rs372230994 0.00005
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) rs753102887 0.00005
NM_001365276.2(TNXB):c.9488C>G (p.Ala3163Gly) rs561810058 0.00005
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=) rs780722176 0.00005
NM_001367624.2(ZNF469):c.2074C>A (p.His692Asn) rs529827333 0.00005
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys) rs387907063 0.00005
NM_001367624.2(ZNF469):c.7130C>T (p.Pro2377Leu) rs768036751 0.00005
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu) rs752770883 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln) rs367959320 0.00005
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His) rs752634323 0.00005
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val) rs370614125 0.00005
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro) rs371013989 0.00005
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773 0.00005
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444 0.00005
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val) rs749842975 0.00005
NM_014244.5(ADAMTS2):c.721C>T (p.Arg241Cys) rs140045997 0.00005
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) rs374583073 0.00005
NM_018699.4(PRDM5):c.1623+8T>C rs201965676 0.00005
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val) rs142133113 0.00005
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr) rs558669120 0.00005
NM_000088.4(COL1A1):c.*285C>A rs990020766 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) rs745320719 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740 0.00004
NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg) rs368447157 0.00004
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.1448C>A (p.Ala483Asp) rs414408 0.00004
NM_000089.4(COL1A2):c.220G>A (p.Gly74Ser) rs776365460 0.00004
NM_000089.4(COL1A2):c.2813G>A (p.Arg938His) rs746504964 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val) rs746794922 0.00004
NM_000089.4(COL1A2):c.3473A>C (p.Asn1158Thr) rs1034555044 0.00004
NM_000089.4(COL1A2):c.3647G>T (p.Trp1216Leu) rs1023594853 0.00004
NM_000089.4(COL1A2):c.378+6T>C rs752336890 0.00004
NM_000089.4(COL1A2):c.3835A>G (p.Met1279Val) rs775850964 0.00004
NM_000089.4(COL1A2):c.4048G>A (p.Gly1350Ser) rs193922170 0.00004
NM_000089.4(COL1A2):c.644C>T (p.Ala215Val) rs753438416 0.00004
NM_000089.4(COL1A2):c.727G>A (p.Val243Met) rs764373659 0.00004
NM_000089.4(COL1A2):c.980G>A (p.Arg327His) rs764174111 0.00004
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr) rs372329498 0.00004
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) rs770168441 0.00004
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849 0.00004
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu) rs534898281 0.00004
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) rs367754862 0.00004
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062 0.00004
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000090.4(COL3A1):c.4075C>A (p.Leu1359Ile) rs1400489265 0.00004
NM_000090.4(COL3A1):c.4159A>G (p.Lys1387Glu) rs145138575 0.00004
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp) rs760482912 0.00004
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp) rs757062073 0.00004
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln) rs778497667 0.00004
NM_000093.5(COL5A1):c.*1788G>A rs886063690 0.00004
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465 0.00004
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=) rs138803413 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992 0.00004
NM_000093.5(COL5A1):c.2286G>A (p.Pro762=) rs766817444 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser) rs183114696 0.00004
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561 0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000302.3(PLOD1):c.-64C>G rs886045195 0.00004
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511 0.00004
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met) rs770120389 0.00004
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937 0.00004
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767 0.00004
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315 0.00004
NM_000393.5(COL5A2):c.*211T>A rs776264833 0.00004
NM_000393.5(COL5A2):c.3310-3T>A rs752705717 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_001128225.3(SLC39A13):c.1046C>T (p.Ser349Phe) rs376076637 0.00004
NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn) rs775918761 0.00004
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) rs368796707 0.00004
NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val) rs779570378 0.00004
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His) rs762900525 0.00004
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val) rs914512778 0.00004
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189 0.00004
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr) rs370516835 0.00004
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val) rs754558033 0.00004
NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=) rs767740137 0.00004
NM_001365276.2(TNXB):c.1273T>C (p.Tyr425His) rs765203258 0.00004
NM_001365276.2(TNXB):c.1530C>T (p.Gly510=) rs377075950 0.00004
NM_001365276.2(TNXB):c.2312C>G (p.Pro771Arg) rs199705832 0.00004
NM_001365276.2(TNXB):c.3968G>A (p.Arg1323Gln) rs766503904 0.00004
NM_001365276.2(TNXB):c.6100C>G (p.Pro2034Ala) rs1437182181 0.00004
NM_001365276.2(TNXB):c.788G>A (p.Arg263His) rs371229076 0.00004
NM_001365276.2(TNXB):c.8290G>A (p.Asp2764Asn) rs1202460287 0.00004
NM_001365276.2(TNXB):c.9474T>G (p.Thr3158=) rs528915277 0.00004
NM_001367624.2(ZNF469):c.10985G>A (p.Arg3662Gln) rs562527410 0.00004
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872 0.00004
NM_001367624.2(ZNF469):c.1719C>T (p.His573=) rs552893295 0.00004
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664 0.00004
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_001367624.2(ZNF469):c.5825G>T (p.Gly1942Val) rs977906765 0.00004
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=) rs748097865 0.00004
NM_001367624.2(ZNF469):c.7837C>T (p.Arg2613Trp) rs754715853 0.00004
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys) rs540443650 0.00004
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=) rs534464702 0.00004
NM_001734.5(C1S):c.991C>T (p.Arg331Cys) rs140488585 0.00004
NM_001999.4(FBN2):c.4222+10C>A rs376700480 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.6293-8T>A rs375682913 0.00004
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.2164+6A>T rs746467248 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val) rs944222774 0.00004
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428 0.00004
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 0.00004
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219 0.00004
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=) rs751540913 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser) rs747966606 0.00004
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00004
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser) rs772870762 0.00004
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr) rs773855825 0.00004
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val) rs1199162597 0.00004
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_005902.4(SMAD3):c.879C>T (p.Gly293=) rs769683236 0.00004
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser) rs771088509 0.00004
NM_007255.3(B4GALT7):c.698G>A (p.Arg233Gln) rs780268052 0.00004
NM_007255.3(B4GALT7):c.890G>A (p.Arg297His) rs374994284 0.00004
NM_013352.4(DSE):c.215C>T (p.Thr72Met) rs201564300 0.00004
NM_013352.4(DSE):c.2242C>T (p.His748Tyr) rs770096528 0.00004
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr) rs140764351 0.00004
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly) rs377694163 0.00004
NM_013352.4(DSE):c.95T>C (p.Met32Thr) rs140765634 0.00004
NM_014244.5(ADAMTS2):c.*2035G>A rs1022911243 0.00004
NM_014244.5(ADAMTS2):c.*2511C>A rs1265598763 0.00004
NM_014244.5(ADAMTS2):c.*985C>T rs187198149 0.00004
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390 0.00004
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His) rs201162234 0.00004
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401 0.00004
NM_014244.5(ADAMTS2):c.1519C>T (p.Arg507Trp) rs201393333 0.00004
NM_014244.5(ADAMTS2):c.1520G>A (p.Arg507Gln) rs148263300 0.00004
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val) rs768252348 0.00004
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052 0.00004
NM_014244.5(ADAMTS2):c.2171T>A (p.Val724Glu) rs761256475 0.00004
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val) rs201241062 0.00004
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile) rs777314559 0.00004
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983 0.00004
NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr) rs557070498 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341 0.00004
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005 0.00004
NM_014244.5(ADAMTS2):c.976-10C>A rs973000351 0.00004
NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg) rs483352736 0.00004
NM_018699.4(PRDM5):c.1043A>G (p.Tyr348Cys) rs750825490 0.00004
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) rs183142477 0.00004
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) rs1352733612 0.00004
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe) rs755535418 0.00004
NM_130468.4(CHST14):c.315G>A (p.Arg105=) rs903042632 0.00004
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) rs368203130 0.00004
NM_130468.4(CHST14):c.869C>T (p.Ala290Val) rs763074027 0.00004
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) rs927457735 0.00004
NM_000088.4(COL1A1):c.*682C>T rs77720683 0.00003
NM_000088.4(COL1A1):c.*733G>A rs886053148 0.00003
NM_000088.4(COL1A1):c.*795C>T rs886053147 0.00003
NM_000088.4(COL1A1):c.1663C>T (p.Pro555Ser) rs778463556 0.00003
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436 0.00003
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) rs374853330 0.00003
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) rs756297543 0.00003
NM_000089.4(COL1A2):c.*584A>T rs1469558350 0.00003
NM_000089.4(COL1A2):c.*601A>G rs1031022615 0.00003
NM_000089.4(COL1A2):c.1402G>A (p.Val468Ile) rs770497661 0.00003
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln) rs200231086 0.00003
NM_000089.4(COL1A2):c.1556G>A (p.Arg519Gln) rs201768205 0.00003
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr) rs41317153 0.00003
NM_000089.4(COL1A2):c.1804C>T (p.Pro602Ser) rs906800567 0.00003
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517 0.00003
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000089.4(COL1A2):c.2489G>A (p.Arg830Gln) rs768513176 0.00003
NM_000089.4(COL1A2):c.2644C>T (p.Arg882Cys) rs1204085246 0.00003
NM_000089.4(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.3239G>A (p.Arg1080Gln) rs751898427 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000090.4(COL3A1):c.*406A>G rs770571552 0.00003
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=) rs373963384 0.00003
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln) rs774632188 0.00003
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 0.00003
NM_000090.4(COL3A1):c.2022+6A>T rs368117488 0.00003
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser) rs201468881 0.00003
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr) rs776814693 0.00003
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser) rs759565407 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) rs778419091 0.00003
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val) rs754503346 0.00003
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.2484+6C>T rs576976549 0.00003
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=) rs1060502253 0.00003
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=) rs1233949819 0.00003
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 0.00003
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg) rs368448060 0.00003
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) rs757434449 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000302.4(PLOD1):c.*148C>G rs886045211 0.00003
NM_000302.4(PLOD1):c.-39G>T rs769995450 0.00003
NM_000302.4(PLOD1):c.1098-3C>T rs541901674 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 0.00003
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys) rs370790682 0.00003
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys) rs138698098 0.00003
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828 0.00003
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val) rs369696269 0.00003
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp) rs748646169 0.00003
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290 0.00003
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648 0.00003
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile) rs370498584 0.00003
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys) rs754650948 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973 0.00003
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys) rs780519821 0.00003
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577 0.00003
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079 0.00003
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1181C>T (p.Ala394Val) rs370121305 0.00003
NM_000393.5(COL5A2):c.1697C>T (p.Pro566Leu) rs1051400743 0.00003
NM_000393.5(COL5A2):c.1960G>A (p.Gly654Ser) rs773726323 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132 0.00003
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00003
NM_000393.5(COL5A2):c.3391G>T (p.Gly1131Cys) rs747946828 0.00003
NM_000393.5(COL5A2):c.3412G>A (p.Asp1138Asn) rs750574093 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593 0.00003
NM_000393.5(COL5A2):c.4037G>A (p.Arg1346His) rs143163673 0.00003
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511 0.00003
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937 0.00003
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 0.00003
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr) rs148005959 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277 0.00003
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253 0.00003
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001128225.3(SLC39A13):c.919+4C>T rs368667805 0.00003
NM_001129.5(AEBP1):c.1141G>C (p.Glu381Gln) rs202186949 0.00003
NM_001365276.2(TNXB):c.10803C>T (p.Leu3601=) rs759124319 0.00003
NM_001365276.2(TNXB):c.1808G>A (p.Gly603Asp) rs753344187 0.00003
NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp) rs1232589427 0.00003
NM_001365276.2(TNXB):c.3033C>T (p.Asp1011=) rs756743577 0.00003
NM_001365276.2(TNXB):c.3075G>A (p.Pro1025=) rs760709480 0.00003
NM_001365276.2(TNXB):c.7449C>T (p.His2483=) rs769682713 0.00003
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr) rs1478498254 0.00003
NM_001365276.2(TNXB):c.9579C>T (p.Phe3193=) rs773892921 0.00003
NM_001365276.2(TNXB):c.9899A>G (p.Gln3300Arg) rs776725505 0.00003
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) rs1394199246 0.00003
NM_001367624.2(ZNF469):c.10611G>A (p.Pro3537=) rs774846173 0.00003
NM_001367624.2(ZNF469):c.11022G>A (p.Ala3674=) rs1002770054 0.00003
NM_001367624.2(ZNF469):c.11278G>A (p.Glu3760Lys) rs547014159 0.00003
NM_001367624.2(ZNF469):c.11444C>T (p.Thr3815Met) rs1057518368 0.00003
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421 0.00003
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=) rs886052392 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.2395T>C (p.Leu799=) rs1010145375 0.00003
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu) rs768864900 0.00003
NM_001367624.2(ZNF469):c.6474C>T (p.Asp2158=) rs1350203416 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_001367624.2(ZNF469):c.9124C>T (p.Arg3042Cys) rs546845105 0.00003
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser) rs886052418 0.00003
NM_001367624.2(ZNF469):c.9846A>T (p.Pro3282=) rs1229855515 0.00003
NM_001734.5(C1S):c.347A>G (p.Asn116Ser) rs782390414 0.00003
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_003242.6(TGFBR2):c.1473G>A (p.Val491=) rs752287982 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966 0.00003
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu) rs199503279 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=) rs775579405 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=) rs900917198 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 0.00003
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=) rs373068387 0.00003
NM_007255.3(B4GALT7):c.850G>A (p.Glu284Lys) rs765821414 0.00003
NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys) rs749683894 0.00003
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483 0.00003
NM_014244.5(ADAMTS2):c.*2589T>G rs886060482 0.00003
NM_014244.5(ADAMTS2):c.*2724A>G rs886060481 0.00003
NM_014244.5(ADAMTS2):c.*843G>A rs778909760 0.00003
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys) rs751283120 0.00003
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu) rs1019548575 0.00003
NM_014244.5(ADAMTS2):c.1641A>G (p.Lys547=) rs776592829 0.00003
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu) rs778186590 0.00003
NM_014244.5(ADAMTS2):c.2086-3C>T rs756427989 0.00003
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978 0.00003
NM_014244.5(ADAMTS2):c.2451C>T (p.Thr817=) rs138564815 0.00003
NM_014244.5(ADAMTS2):c.2530G>A (p.Asp844Asn) rs764687535 0.00003
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val) rs141654276 0.00003
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=) rs768390657 0.00003
NM_014244.5(ADAMTS2):c.2958+5G>A rs370239549 0.00003
NM_014244.5(ADAMTS2):c.3059C>T (p.Ala1020Val) rs1309222711 0.00003
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu) rs778184902 0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=) rs766731589 0.00003
NM_014244.5(ADAMTS2):c.3326C>T (p.Pro1109Leu) rs777170469 0.00003
NM_014244.5(ADAMTS2):c.3397C>T (p.Arg1133Trp) rs545409845 0.00003
NM_014244.5(ADAMTS2):c.3398G>A (p.Arg1133Gln) rs761111411 0.00003
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg) rs141541318 0.00003
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter) rs781618824 0.00003
NM_014244.5(ADAMTS2):c.40C>T (p.Pro14Ser) rs918053466 0.00003
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile) rs777436451 0.00003
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln) rs763524702 0.00003
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716 0.00003
NM_014244.5(ADAMTS2):c.773G>A (p.Arg258His) rs1057524562 0.00003
NM_014244.5(ADAMTS2):c.891+9G>A rs749508251 0.00003
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu) rs1407363425 0.00003
NM_017946.4(FKBP14):c.518C>T (p.Ala173Val) rs757164371 0.00003
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala) rs372805238 0.00003
NM_018699.4(PRDM5):c.182G>A (p.Arg61His) rs777432357 0.00003
NM_018699.4(PRDM5):c.650+5G>A rs754469516 0.00003
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) rs778444849 0.00003
NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn) rs548246291 0.00003
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) rs775252357 0.00003
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) rs371189136 0.00003
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) rs778069410 0.00003
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu) rs1321331803 0.00003
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138 0.00002
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451 0.00002
NM_000089.4(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779 0.00002
NM_000089.4(COL1A2):c.1331C>T (p.Pro444Leu) rs772238510 0.00002
NM_000089.4(COL1A2):c.1404+4A>C rs369907691 0.00002
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808 0.00002
NM_000089.4(COL1A2):c.2024G>A (p.Arg675His) rs754443174 0.00002
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile) rs752207083 0.00002
NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn) rs779934676 0.00002
NM_000089.4(COL1A2):c.3491G>A (p.Arg1164His) rs764327381 0.00002
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys) rs781721538 0.00002
NM_000089.4(COL1A2):c.4013G>A (p.Arg1338His) rs748714040 0.00002
NM_000089.4(COL1A2):c.430G>A (p.Asp144Asn) rs981008420 0.00002
NM_000089.4(COL1A2):c.670C>A (p.Arg224Ser) rs763047559 0.00002
NM_000089.4(COL1A2):c.781C>A (p.Pro261Thr) rs141075408 0.00002
NM_000090.4(COL3A1):c.*89G>A rs886055335 0.00002
NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser) rs768314657 0.00002
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln) rs1021622002 0.00002
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys) rs1485092842 0.00002
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser) rs747419192 0.00002
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530 0.00002
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976 0.00002
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362 0.00002
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala) rs777180110 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr) rs147054108 0.00002
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln) rs369494336 0.00002
NM_000090.4(COL3A1):c.3574G>A (p.Ala1192Thr) rs141587182 0.00002
NM_000090.4(COL3A1):c.3629G>A (p.Gly1210Asp) rs749543804 0.00002
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831 0.00002
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His) rs368119434 0.00002
NM_000090.4(COL3A1):c.4011+3A>G rs112254545 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090 0.00002
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile) rs561556753 0.00002
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro) rs780921226 0.00002
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys) rs138818489 0.00002
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln) rs753589858 0.00002
NM_000093.5(COL5A1):c.*1787G>A rs886063689 0.00002
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465 0.00002
NM_000093.5(COL5A1):c.1495-3C>T rs943808454 0.00002
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910 0.00002
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=) rs373285312 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246 0.00002
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu) rs1198718473 0.00002
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3852+3G>A rs1220391738 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu) rs1297565068 0.00002
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser) rs753525012 0.00002
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys) rs747427505 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser) rs747231282 0.00002
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260 0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) rs746104317 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val) rs763906693 0.00002
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.128G>A (p.Arg43His) rs141704997 0.00002
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln) rs150184664 0.00002
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu) rs1485759254 0.00002
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser) rs761352524 0.00002
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln) rs1282397747 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897 0.00002
NM_000302.4(PLOD1):c.302+5G>A rs749607584 0.00002
NM_000302.4(PLOD1):c.310G>A (p.Val104Met) rs141809154 0.00002
NM_000302.4(PLOD1):c.354G>A (p.Arg118=) rs746072884 0.00002
NM_000302.4(PLOD1):c.355C>A (p.Gln119Lys) rs769620321 0.00002
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr) rs1156606108 0.00002
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp) rs746416126 0.00002
NM_000302.4(PLOD1):c.70C>T (p.Pro24Ser) rs1395571164 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln) rs776949094 0.00002
NM_000302.4(PLOD1):c.844-6G>T rs767068264 0.00002
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu) rs760230526 0.00002
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp) rs370736543 0.00002
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser) rs200524993 0.00002
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.1564-8A>T rs776187028 0.00002
NM_000393.5(COL5A2):c.1618-7G>A rs77456219 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1717-3C>T rs760304144 0.00002
NM_000393.5(COL5A2):c.2031+3A>G rs201947903 0.00002
NM_000393.5(COL5A2):c.2254C>T (p.Pro752Ser) rs372270389 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.2552A>G (p.Gln851Arg) rs1286805423 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.3040-8T>C rs886055355 0.00002
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 0.00002
NM_000393.5(COL5A2):c.3471+3A>G rs929722223 0.00002
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr) rs1243023432 0.00002
NM_000393.5(COL5A2):c.4163C>G (p.Thr1388Ser) rs771415085 0.00002
NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp) rs760569641 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) rs1191721014 0.00002
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp) rs149930229 0.00002
NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln) rs368519440 0.00002
NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val) rs895559794 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val) rs148165667 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_001365276.2(TNXB):c.2135C>T (p.Pro712Leu) rs766469380 0.00002
NM_001365276.2(TNXB):c.2562A>G (p.Thr854=) rs1179322894 0.00002
NM_001365276.2(TNXB):c.2703C>T (p.Gly901=) rs759556629 0.00002
NM_001365276.2(TNXB):c.4360G>A (p.Ala1454Thr) rs374243353 0.00002
NM_001365276.2(TNXB):c.5269G>A (p.Gly1757Ser) rs747658329 0.00002
NM_001365276.2(TNXB):c.5757C>T (p.Asp1919=) rs371329474 0.00002
NM_001365276.2(TNXB):c.6544+10C>T rs1457948099 0.00002
NM_001365276.2(TNXB):c.7812C>T (p.Ala2604=) rs375141980 0.00002
NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly) rs749055881 0.00002
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His) rs773612193 0.00002
NM_001365276.2(TNXB):c.8966G>A (p.Arg2989Lys) rs775312280 0.00002
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg) rs763407660 0.00002
NM_001367624.2(ZNF469):c.*499A>G rs537339757 0.00002
NM_001367624.2(ZNF469):c.*792A>G rs886052424 0.00002
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.1475G>A (p.Arg492Gln) rs919081661 0.00002
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=) rs768501538 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_001367624.2(ZNF469):c.4944A>G (p.Glu1648=) rs1184248952 0.00002
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=) rs766852564 0.00002
NM_001367624.2(ZNF469):c.6417T>C (p.Pro2139=) rs369067040 0.00002
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn) rs886881362 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=) rs757816736 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys) rs759117573 0.00002
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr) rs1223531902 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn) rs759182254 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121 0.00002
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser) rs932009209 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.2984-2A>G rs760316411 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly) rs1385334403 0.00002
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr) rs780457606 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 0.00002
NM_004612.4(TGFBR1):c.-5G>A rs1220994912 0.00002
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) rs780295872 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_007255.3(B4GALT7):c.128T>G (p.Phe43Cys) rs370483831 0.00002
NM_007255.3(B4GALT7):c.362G>C (p.Arg121Thr) rs781467817 0.00002
NM_007255.3(B4GALT7):c.514G>A (p.Glu172Lys) rs749164672 0.00002
NM_007255.3(B4GALT7):c.79C>T (p.Arg27Trp) rs947051343 0.00002
NM_007255.3(B4GALT7):c.94T>A (p.Phe32Ile) rs1043221348 0.00002
NM_013352.4(DSE):c.121G>A (p.Asp41Asn) rs754763310 0.00002
NM_013352.4(DSE):c.189G>A (p.Ser63=) rs953029145 0.00002
NM_013352.4(DSE):c.2184G>A (p.Lys728=) rs150939596 0.00002
NM_014244.5(ADAMTS2):c.*1411G>A rs1222087934 0.00002
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu) rs762460815 0.00002
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val) rs756455382 0.00002
NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser) rs757782312 0.00002
NM_014244.5(ADAMTS2):c.1793G>A (p.Arg598His) rs1304320729 0.00002
NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln) rs766541864 0.00002
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776 0.00002
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val) rs780473688 0.00002
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His) rs76488852 0.00002
NM_014244.5(ADAMTS2):c.2675G>A (p.Arg892His) rs377397368 0.00002
NM_014244.5(ADAMTS2):c.269C>T (p.Ala90Val) rs1044141398 0.00002
NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys) rs1302357894 0.00002
NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr) rs773669935 0.00002
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln) rs777490675 0.00002
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys) rs755578308 0.00002
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr) rs372096858 0.00002
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490 0.00002
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe) rs781630569 0.00002
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp) rs769174562 0.00002
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly) rs935382945 0.00002
NM_017946.4(FKBP14):c.18G>C (p.Trp6Cys) rs1481251822 0.00002
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr) rs765841495 0.00002
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln) rs747727076 0.00002
NM_017946.4(FKBP14):c.74C>G (p.Pro25Arg) rs142423230 0.00002
NM_017946.4(FKBP14):c.79G>C (p.Val27Leu) rs148775136 0.00002
NM_018699.4(PRDM5):c.921A>G (p.Ala307=) rs190061397 0.00002
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 0.00002
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906 0.00002
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) rs762606889 0.00002
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) rs750182732 0.00002
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) rs886138913 0.00002
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys) rs771306094 0.00002
NM_130468.4(CHST14):c.138G>C (p.Met46Ile) rs1466102278 0.00002
NM_130468.4(CHST14):c.143C>T (p.Ala48Val) rs780919131 0.00002
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) rs749135787 0.00002
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) rs1394541294 0.00002
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) rs561964206 0.00002
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) rs770839880 0.00002
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn) rs763410236 0.00002
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) rs781430388 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 0.00001
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val) rs1557234537 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000088.4(COL1A1):c.*194G>A rs886053158 0.00001
NM_000088.4(COL1A1):c.*837G>A rs564977858 0.00001
NM_000088.4(COL1A1):c.-115G>A rs886053164 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1669-10C>A rs886053162 0.00001
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp) rs769791947 0.00001
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451 0.00001
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=) rs750493684 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) rs746453576 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp) rs372159426 0.00001
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile) rs375823086 0.00001
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.935G>A (p.Arg312His) rs930476771 0.00001
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) rs780242725 0.00001
NM_000089.3(COL1A2):c.-188C>T rs886062512 0.00001
NM_000089.4(COL1A2):c.*193C>T rs1025438678 0.00001
NM_000089.4(COL1A2):c.*465G>T rs937283468 0.00001
NM_000089.4(COL1A2):c.*814A>G rs1584334060 0.00001
NM_000089.4(COL1A2):c.1006G>T (p.Ala336Ser) rs757569298 0.00001
NM_000089.4(COL1A2):c.1015A>G (p.Thr339Ala) rs374718116 0.00001
NM_000089.4(COL1A2):c.105C>T (p.Ala35=) rs533917998 0.00001
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) rs755584404 0.00001
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) rs748961276 0.00001
NM_000089.4(COL1A2):c.1113T>C (p.Pro371=) rs547506739 0.00001
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro) rs972825197 0.00001
NM_000089.4(COL1A2):c.1168G>C (p.Ala390Pro) rs763560185 0.00001
NM_000089.4(COL1A2):c.118C>A (p.Pro40Thr) rs1363689462 0.00001
NM_000089.4(COL1A2):c.1195A>G (p.Arg399Gly) rs1213766484 0.00001
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His) rs368702549 0.00001
NM_000089.4(COL1A2):c.121C>T (p.Arg41Cys) rs769457034 0.00001
NM_000089.4(COL1A2):c.1267C>T (p.Arg423Cys) rs1270445631 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000089.4(COL1A2):c.1319G>A (p.Arg440His) rs141677005 0.00001
NM_000089.4(COL1A2):c.132+3G>A rs1262984429 0.00001
NM_000089.4(COL1A2):c.133-15C>G rs992330364 0.00001
NM_000089.4(COL1A2):c.1354C>T (p.Leu452Phe) rs780096548 0.00001
NM_000089.4(COL1A2):c.1404C>T (p.Val468=) rs773852385 0.00001
NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu) rs760503549 0.00001
NM_000089.4(COL1A2):c.1439T>C (p.Ile480Thr) rs568201784 0.00001
NM_000089.4(COL1A2):c.1516A>C (p.Lys506Gln) rs1037367793 0.00001
NM_000089.4(COL1A2):c.1573G>T (p.Asp525Tyr) rs147074348 0.00001
NM_000089.4(COL1A2):c.1607C>T (p.Pro536Leu) rs1456907715 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362 0.00001
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) rs1394933873 0.00001
NM_000089.4(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908 0.00001
NM_000089.4(COL1A2):c.1817T>C (p.Ile606Thr) rs757262502 0.00001
NM_000089.4(COL1A2):c.1844C>T (p.Pro615Leu) rs780264582 0.00001
NM_000089.4(COL1A2):c.1915A>G (p.Ser639Gly) rs766541995 0.00001
NM_000089.4(COL1A2):c.1930G>A (p.Glu644Lys) rs143178652 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.1971+6T>C rs1345215762 0.00001
NM_000089.4(COL1A2):c.2023C>T (p.Arg675Cys) rs778295967 0.00001
NM_000089.4(COL1A2):c.2050C>T (p.Pro684Ser) rs747954056 0.00001
NM_000089.4(COL1A2):c.2077C>T (p.Arg693Trp) rs1342960126 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2140C>T (p.Arg714Cys) rs770271259 0.00001
NM_000089.4(COL1A2):c.2141G>A (p.Arg714His) rs773392397 0.00001
NM_000089.4(COL1A2):c.2200C>G (p.Gln734Glu) rs774919512 0.00001
NM_000089.4(COL1A2):c.2255T>G (p.Val752Gly) rs1205884799 0.00001
NM_000089.4(COL1A2):c.2312C>T (p.Pro771Leu) rs569241110 0.00001
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro) rs774233882 0.00001
NM_000089.4(COL1A2):c.2372C>T (p.Ala791Val) rs1208084157 0.00001
NM_000089.4(COL1A2):c.2506G>A (p.Ala836Thr) rs759738995 0.00001
NM_000089.4(COL1A2):c.256G>C (p.Val86Leu) rs777971816 0.00001
NM_000089.4(COL1A2):c.2663C>G (p.Ala888Gly) rs752453618 0.00001
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr) rs1245765830 0.00001
NM_000089.4(COL1A2):c.2732C>G (p.Ala911Gly) rs374901613 0.00001
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His) rs200331961 0.00001
NM_000089.4(COL1A2):c.279+12T>C rs751199493 0.00001
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn) rs779358259 0.00001
NM_000089.4(COL1A2):c.2806C>G (p.Pro936Ala) rs1020235088 0.00001
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.287T>A (p.Met96Lys) rs1026230498 0.00001
NM_000089.4(COL1A2):c.2887C>T (p.Pro963Ser) rs760780128 0.00001
NM_000089.4(COL1A2):c.292C>T (p.Pro98Ser) rs765868569 0.00001
NM_000089.4(COL1A2):c.2932C>T (p.Arg978Cys) rs145633247 0.00001
NM_000089.4(COL1A2):c.2944-3C>T rs1408725826 0.00001
NM_000089.4(COL1A2):c.2993C>T (p.Pro998Leu) rs1204582322 0.00001
NM_000089.4(COL1A2):c.300C>T (p.Gly100=) rs751107938 0.00001
NM_000089.4(COL1A2):c.3140T>G (p.Val1047Gly) rs1033662953 0.00001
NM_000089.4(COL1A2):c.323C>G (p.Pro108Arg) rs1791756508 0.00001
NM_000089.4(COL1A2):c.329C>T (p.Pro110Leu) rs770180852 0.00001
NM_000089.4(COL1A2):c.3311G>A (p.Ser1104Asn) rs771438684 0.00001
NM_000089.4(COL1A2):c.3346T>C (p.Phe1116Leu) rs1368149627 0.00001
NM_000089.4(COL1A2):c.3404T>C (p.Val1135Ala) rs779411376 0.00001
NM_000089.4(COL1A2):c.3526+4G>A rs1284156162 0.00001
NM_000089.4(COL1A2):c.3532T>C (p.Tyr1178His) rs750815565 0.00001
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490 0.00001
NM_000089.4(COL1A2):c.3706A>G (p.Ser1236Gly) rs781184808 0.00001
NM_000089.4(COL1A2):c.3708C>A (p.Ser1236Arg) rs1214052566 0.00001
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=) rs1792349319 0.00001
NM_000089.4(COL1A2):c.3773G>A (p.Arg1258His) rs200663095 0.00001
NM_000089.4(COL1A2):c.384T>A (p.Pro128=) rs767043956 0.00001
NM_000089.4(COL1A2):c.3879G>T (p.Gln1293His) rs1214506904 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000089.4(COL1A2):c.3941T>C (p.Val1314Ala) rs1421507234 0.00001
NM_000089.4(COL1A2):c.3995A>T (p.Lys1332Ile) rs1484368913 0.00001
NM_000089.4(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932 0.00001
NM_000089.4(COL1A2):c.4052G>A (p.Gly1351Asp) rs372535479 0.00001
NM_000089.4(COL1A2):c.4078A>G (p.Ile1360Val) rs1281006993 0.00001
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln) rs765116624 0.00001
NM_000089.4(COL1A2):c.548A>G (p.Asn183Ser) rs1283526350 0.00001
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg) rs772672797 0.00001
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala) rs1210318478 0.00001
NM_000089.4(COL1A2):c.69A>G (p.Gln23=) rs770754442 0.00001
NM_000089.4(COL1A2):c.77A>G (p.Gln26Arg) rs1313865970 0.00001
NM_000089.4(COL1A2):c.835G>A (p.Ala279Thr) rs374616916 0.00001
NM_000089.4(COL1A2):c.845G>A (p.Arg282His) rs542393716 0.00001
NM_000089.4(COL1A2):c.877C>T (p.Pro293Ser) rs1365024484 0.00001
NM_000090.4(COL3A1):c.*643G>A rs1688748242 0.00001
NM_000090.4(COL3A1):c.*740A>T rs1005052846 0.00001
NM_000090.4(COL3A1):c.*818T>C rs886055344 0.00001
NM_000090.4(COL3A1):c.1004C>A (p.Pro335His) rs1688217356 0.00001
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) rs752110396 0.00001
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala) rs574831241 0.00001
NM_000090.4(COL3A1):c.1103G>A (p.Arg368Lys) rs781216305 0.00001
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly) rs748323501 0.00001
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr) rs1248348633 0.00001
NM_000090.4(COL3A1):c.113C>A (p.Ser38Tyr) rs755509578 0.00001
NM_000090.4(COL3A1):c.1149+3A>G rs1466133249 0.00001
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys) rs187907868 0.00001
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr) rs763720540 0.00001
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr) rs373858715 0.00001
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val) rs1372036761 0.00001
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035 0.00001
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser) rs1688253514 0.00001
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg) rs751471411 0.00001
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser) rs1688260053 0.00001
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His) rs888082655 0.00001
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr) rs745315358 0.00001
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) rs1461198652 0.00001
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro) rs374532173 0.00001
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr) rs200866608 0.00001
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912 0.00001
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu) rs751315184 0.00001
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser) rs138166497 0.00001
NM_000090.4(COL3A1):c.1609-17T>G rs1468376126 0.00001
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn) rs1293397335 0.00001
NM_000090.4(COL3A1):c.1761+6T>C rs189483688 0.00001
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp) rs1435010100 0.00001
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) rs762028131 0.00001
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu) rs764299277 0.00001
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala) rs376525602 0.00001
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.1869+6T>G rs730880063 0.00001
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu) rs902780774 0.00001
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048 0.00001
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410 0.00001
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu) rs756822808 0.00001
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) rs372269408 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys) rs1254414798 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn) rs112714742 0.00001
NM_000090.4(COL3A1):c.2074C>A (p.Pro692Thr) rs1160258883 0.00001
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) rs886038228 0.00001
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=) rs541557925 0.00001
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711 0.00001
NM_000090.4(COL3A1):c.2290A>G (p.Thr764Ala) rs775003113 0.00001
NM_000090.4(COL3A1):c.2317G>T (p.Ala773Ser) rs1170068141 0.00001
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val) rs370292679 0.00001
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr) rs1296092212 0.00001
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser) rs755676319 0.00001
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu) rs943287668 0.00001
NM_000090.4(COL3A1):c.2539G>A (p.Gly847Ser) rs1688502787 0.00001
NM_000090.4(COL3A1):c.2554-4A>G rs543263157 0.00001
NM_000090.4(COL3A1):c.2567C>T (p.Pro856Leu) rs1688514900 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859 0.00001
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu) rs1455100373 0.00001
NM_000090.4(COL3A1):c.267A>G (p.Pro89=) rs998965783 0.00001
NM_000090.4(COL3A1):c.275C>T (p.Pro92Leu) rs368889070 0.00001
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn) rs929526823 0.00001
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser) rs761447734 0.00001
NM_000090.4(COL3A1):c.2848G>A (p.Ala950Thr) rs1170896025 0.00001
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) rs780260944 0.00001
NM_000090.4(COL3A1):c.2962C>T (p.Leu988Phe) rs978290107 0.00001
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) rs1431359737 0.00001
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala) rs142457159 0.00001
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480 0.00001
NM_000090.4(COL3A1):c.3092A>G (p.Lys1031Arg) rs749725146 0.00001
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val) rs1060500206 0.00001
NM_000090.4(COL3A1):c.3100C>T (p.Arg1034Cys) rs1178112512 0.00001
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) rs780788248 0.00001
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu) rs762567565 0.00001
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile) rs747197616 0.00001
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser) rs180938313 0.00001
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516 0.00001
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val) rs952989325 0.00001
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu) rs1328301317 0.00001
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser) rs1464447467 0.00001
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys) rs755321924 0.00001
NM_000090.4(COL3A1):c.3417+6T>C rs1201578152 0.00001
NM_000090.4(COL3A1):c.3418-5C>A rs377392671 0.00001
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062 0.00001
NM_000090.4(COL3A1):c.3583C>T (p.Pro1195Ser) rs137912293 0.00001
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp) rs756858564 0.00001
NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=) rs755573602 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3637G>T (p.Ala1213Ser) rs1427744978 0.00001
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser) rs767577382 0.00001
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys) rs1190691997 0.00001
NM_000090.4(COL3A1):c.3712C>T (p.Leu1238Phe) rs1688662674 0.00001
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val) rs779018915 0.00001
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met) rs200052168 0.00001
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr) rs756724842 0.00001
NM_000090.4(COL3A1):c.3847C>G (p.Gln1283Glu) rs587779467 0.00001
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile) rs1688692242 0.00001
NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp) rs794728056 0.00001
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524 0.00001
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys) rs149522780 0.00001
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser) rs751807135 0.00001
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser) rs752777683 0.00001
NM_000090.4(COL3A1):c.4049T>C (p.Leu1350Pro) rs1294762739 0.00001
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr) rs547373542 0.00001
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser) rs746580509 0.00001
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg) rs775951025 0.00001
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser) rs202022204 0.00001
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr) rs747651283 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.4340A>G (p.Tyr1447Cys) rs1407784923 0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met) rs751427069 0.00001
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys) rs1160176510 0.00001
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu) rs1016172772 0.00001
NM_000090.4(COL3A1):c.50A>T (p.His17Leu) rs1311785540 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) rs751350498 0.00001
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) rs1325737333 0.00001
NM_000090.4(COL3A1):c.690+3A>G rs1447080385 0.00001
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) rs771858477 0.00001
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln) rs760324242 0.00001
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln) rs372025063 0.00001
NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg) rs151148197 0.00001
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser) rs1688161034 0.00001
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr) rs772713162 0.00001
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser) rs1318892403 0.00001
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val) rs1016767830 0.00001
NM_000090.4(COL3A1):c.897+4A>G rs886039191 0.00001
NM_000090.4(COL3A1):c.898-14A>G rs763316592 0.00001
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg) rs1273313377 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
NM_000093.5(COL5A1):c.*589G>A rs886063682 0.00001
NM_000093.5(COL5A1):c.*596A>G rs775044518 0.00001
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn) rs1420950002 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro) rs757379111 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1332+4dup rs886063674 0.00001
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=) rs1057518771 0.00001
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val) rs763650548 0.00001
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732 0.00001
NM_000093.5(COL5A1):c.1678C>G (p.Pro560Ala) rs1321926947 0.00001
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly) rs1460929040 0.00001
NM_000093.5(COL5A1):c.1717G>A (p.Val573Met) rs1304946894 0.00001
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp) rs772579783 0.00001
NM_000093.5(COL5A1):c.1828-3C>G rs369608154 0.00001
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser) rs183627101 0.00001
NM_000093.5(COL5A1):c.1989+4G>A rs1307138217 0.00001
NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn) rs376115028 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 0.00001
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247 0.00001
NM_000093.5(COL5A1):c.2331+4G>A rs1588532335 0.00001
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) rs745370910 0.00001
NM_000093.5(COL5A1):c.2430+230C>G rs1837207655 0.00001
NM_000093.5(COL5A1):c.2430+4A>C rs772211603 0.00001
NM_000093.5(COL5A1):c.2464A>G (p.Met822Val) rs1060502262 0.00001
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu) rs558752105 0.00001
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln) rs1837405294 0.00001
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) rs767925708 0.00001
NM_000093.5(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val) rs759338898 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met) rs771090557 0.00001
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln) rs574551567 0.00001
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser) rs1189111524 0.00001
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser) rs1205167823 0.00001
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013 0.00001
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val) rs761639579 0.00001
NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181 0.00001
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu) rs766852875 0.00001
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys) rs367905915 0.00001
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser) rs1838252619 0.00001
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala) rs1315080321 0.00001
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His) rs1482501113 0.00001
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117 0.00001
NM_000093.5(COL5A1):c.3346G>T (p.Ala1116Ser) rs1838294621 0.00001
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449 0.00001
NM_000093.5(COL5A1):c.3528+12C>T rs927953209 0.00001
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys) rs1588448757 0.00001
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser) rs761962890 0.00001
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys) rs1370262542 0.00001
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441 0.00001
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser) rs370151534 0.00001
NM_000093.5(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484 0.00001
NM_000093.5(COL5A1):c.427C>A (p.His143Asn) rs863223465 0.00001
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser) rs757989702 0.00001
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys) rs1838876394 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) rs756096066 0.00001
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser) rs750864661 0.00001
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn) rs1422012959 0.00001
NM_000093.5(COL5A1):c.4554+5G>A rs375489070 0.00001
NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala) rs1839028918 0.00001
NM_000093.5(COL5A1):c.4608+3G>T rs1164584886 0.00001
NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521 0.00001
NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro) rs376821494 0.00001
NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn) rs863223480 0.00001
NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg) rs918778766 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu) rs754447923 0.00001
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp) rs763091062 0.00001
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg) rs1273195387 0.00001
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg) rs1339470102 0.00001
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp) rs1243519195 0.00001
NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu) rs370607849 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys) rs759042440 0.00001
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His) rs778249693 0.00001
NM_000093.5(COL5A1):c.5372C>A (p.Thr1791Asn) rs1258210858 0.00001
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro) rs1830127790 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226 0.00001
NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg) rs1833662587 0.00001
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp) rs1490728700 0.00001
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly) rs1433120962 0.00001
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys) rs199857770 0.00001
NM_000093.5(COL5A1):c.987G>A (p.Lys329=) rs769516996 0.00001
NM_000302.4(PLOD1):c.-58G>A rs552712043 0.00001
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) rs1195535094 0.00001
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr) rs367592901 0.00001
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys) rs538407894 0.00001
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys) rs373520363 0.00001
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys) rs764179880 0.00001
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp) rs1428519006 0.00001
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln) rs767839550 0.00001
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro) rs1434675020 0.00001
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile) rs773517731 0.00001
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp) rs1204551467 0.00001
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser) rs758780380 0.00001
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138 0.00001
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048 0.00001
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe) rs1374717198 0.00001
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His) rs773170096 0.00001
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val) rs376017234 0.00001
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp) rs769499769 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 0.00001
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885 0.00001
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) rs1487304416 0.00001
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln) rs755654001 0.00001
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys) rs748841458 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter) rs373094220 0.00001
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val) rs1415378080 0.00001
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln) rs781455578 0.00001
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser) rs768422539 0.00001
NM_000302.4(PLOD1):c.466+3G>A rs779840832 0.00001
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser) rs750416079 0.00001
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys) rs534314930 0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000302.4(PLOD1):c.741+4G>C rs763641520 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp) rs558752942 0.00001
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645 0.00001
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile) rs776894307 0.00001
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser) rs748920493 0.00001
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met) rs777957649 0.00001
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692 0.00001
NM_000302.4(PLOD1):c.873C>T (p.Gly291=) rs1391173198 0.00001
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu) rs532145123 0.00001
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000393.5(COL5A2):c.*1460A>T rs886055349 0.00001
NM_000393.5(COL5A2):c.*1970T>G rs548360577 0.00001
NM_000393.5(COL5A2):c.1010C>T (p.Pro337Leu) rs766349082 0.00001
NM_000393.5(COL5A2):c.1040T>A (p.Leu347His) rs1356274894 0.00001
NM_000393.5(COL5A2):c.1246C>G (p.Pro416Ala) rs1412825331 0.00001
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049 0.00001
NM_000393.5(COL5A2):c.1343C>T (p.Pro448Leu) rs757674141 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1391G>A (p.Arg464Gln) rs1553515798 0.00001
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=) rs144540534 0.00001
NM_000393.5(COL5A2):c.1492G>A (p.Gly498Ser) rs780495441 0.00001
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 0.00001
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490 0.00001
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser) rs369506320 0.00001
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149 0.00001
NM_000393.5(COL5A2):c.1685G>A (p.Arg562His) rs1199481029 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1699G>A (p.Gly567Arg) rs863223503 0.00001
NM_000393.5(COL5A2):c.1714C>T (p.Arg572Trp) rs768322852 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951 0.00001
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser) rs544303636 0.00001
NM_000393.5(COL5A2):c.1766C>T (p.Pro589Leu) rs863223505 0.00001
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=) rs140541824 0.00001
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558 0.00001
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys) rs144652675 0.00001
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744 0.00001
NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000393.5(COL5A2):c.2130A>G (p.Arg710=) rs1451386429 0.00001
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220 0.00001
NM_000393.5(COL5A2):c.2272C>G (p.Pro758Ala) rs753363765 0.00001
NM_000393.5(COL5A2):c.2338-10G>A rs1017894646 0.00001
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val) rs1270917752 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln) rs1458760818 0.00001
NM_000393.5(COL5A2):c.2486C>T (p.Ser829Phe) rs771633594 0.00001
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616 0.00001
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp) rs746155819 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.2756C>T (p.Pro919Leu) rs1388047059 0.00001
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val) rs747843876 0.00001
NM_000393.5(COL5A2):c.2791C>T (p.Pro931Ser) rs1182035468 0.00001
NM_000393.5(COL5A2):c.2800G>C (p.Glu934Gln) rs751499848 0.00001
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412 0.00001
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025 0.00001
NM_000393.5(COL5A2):c.284T>A (p.Val95Asp) rs759604513 0.00001
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147 0.00001
NM_000393.5(COL5A2):c.3169A>G (p.Thr1057Ala) rs768663426 0.00001
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys) rs539362640 0.00001
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His) rs780705330 0.00001
NM_000393.5(COL5A2):c.3250G>A (p.Ala1084Thr) rs1432653441 0.00001
NM_000393.5(COL5A2):c.3268C>T (p.Pro1090Ser) rs761543775 0.00001
NM_000393.5(COL5A2):c.3299G>C (p.Arg1100Thr) rs942673350 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 0.00001
NM_000393.5(COL5A2):c.3529C>T (p.Pro1177Ser) rs367939836 0.00001
NM_000393.5(COL5A2):c.3586A>G (p.Ile1196Val) rs1271802995 0.00001
NM_000393.5(COL5A2):c.3611G>A (p.Ser1204Asn) rs1060501907 0.00001
NM_000393.5(COL5A2):c.3633+12A>G rs886055353 0.00001
NM_000393.5(COL5A2):c.3633+14G>T rs776087725 0.00001
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 0.00001
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177 0.00001
NM_000393.5(COL5A2):c.3832C>A (p.Gln1278Lys) rs147767226 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.3856G>A (p.Asp1286Asn) rs1194645204 0.00001
NM_000393.5(COL5A2):c.3889G>A (p.Asp1297Asn) rs1553512886 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3908A>G (p.His1303Arg) rs138900123 0.00001
NM_000393.5(COL5A2):c.4076C>T (p.Pro1359Leu) rs745580343 0.00001
NM_000393.5(COL5A2):c.4153A>G (p.Thr1385Ala) rs1169417653 0.00001
NM_000393.5(COL5A2):c.4238A>G (p.Asp1413Gly) rs1685415466 0.00001
NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe) rs1409867440 0.00001
NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly) rs371259794 0.00001
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060 0.00001
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp) rs146982082 0.00001
NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val) rs1163031439 0.00001
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057 0.00001
NM_000393.5(COL5A2):c.491C>A (p.Pro164Gln) rs1288294024 0.00001
NM_000393.5(COL5A2):c.64G>A (p.Val22Ile) rs746289356 0.00001
NM_000393.5(COL5A2):c.722A>G (p.Glu241Gly) rs773748617 0.00001
NM_000393.5(COL5A2):c.798+5G>A rs1296613540 0.00001
NM_000393.5(COL5A2):c.799-7C>A rs879227018 0.00001
NM_000393.5(COL5A2):c.852+4A>T rs376981154 0.00001
NM_000393.5(COL5A2):c.856G>A (p.Ala286Thr) rs146648810 0.00001
NM_000393.5(COL5A2):c.859C>T (p.Arg287Cys) rs779241228 0.00001
NM_000393.5(COL5A2):c.911A>G (p.His304Arg) rs1576513195 0.00001
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) rs1360400826 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) rs781816229 0.00001
NM_001110556.2(FLNA):c.4474+3G>T rs1286863443 0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001128225.3(SLC39A13):c.-9+3G>A rs920033870 0.00001
NM_001128225.3(SLC39A13):c.1108G>A (p.Val370Met) rs772789507 0.00001
NM_001128225.3(SLC39A13):c.1116A>G (p.Ter372=) rs762617893 0.00001
NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln) rs770839268 0.00001
NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val) rs762413647 0.00001
NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His) rs754538699 0.00001
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser) rs563652715 0.00001
NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg) rs200726045 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001128225.3(SLC39A13):c.234G>A (p.Val78=) rs140298838 0.00001
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile) rs1317018795 0.00001
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys) rs369854018 0.00001
NM_001128225.3(SLC39A13):c.313C>T (p.Arg105Cys) rs374468349 0.00001
NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val) rs768592866 0.00001
NM_001128225.3(SLC39A13):c.355G>T (p.Gly119Cys) rs892859231 0.00001
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val) rs370161381 0.00001
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter) rs752159748 0.00001
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val) rs2096004287 0.00001
NM_001128225.3(SLC39A13):c.572C>T (p.Ala191Val) rs200688736 0.00001
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser) rs746264976 0.00001
NM_001128225.3(SLC39A13):c.589T>C (p.Cys197Arg) rs779407804 0.00001
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704 0.00001
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969 0.00001
NM_001128225.3(SLC39A13):c.817G>A (p.Gly273Ser) rs199989846 0.00001
NM_001128225.3(SLC39A13):c.823G>C (p.Asp275His) rs1484874346 0.00001
NM_001128225.3(SLC39A13):c.850C>G (p.Leu284Val) rs1300393650 0.00001
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val) rs1407619087 0.00001
NM_001365276.2(TNXB):c.10499G>A (p.Arg3500His) rs767560143 0.00001
NM_001365276.2(TNXB):c.10537T>A (p.Tyr3513Asn) rs771230373 0.00001
NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg) rs1186193202 0.00001
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) rs1379154957 0.00001
NM_001365276.2(TNXB):c.10789C>T (p.Pro3597Ser) rs764559504 0.00001
NM_001365276.2(TNXB):c.1336G>C (p.Glu446Gln) rs536601819 0.00001
NM_001365276.2(TNXB):c.1424G>T (p.Arg475Leu) rs1401291892 0.00001
NM_001365276.2(TNXB):c.144G>C (p.Val48=) rs541266148 0.00001
NM_001365276.2(TNXB):c.1468C>A (p.Arg490=) rs763709773 0.00001
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys) rs761561411 0.00001
NM_001365276.2(TNXB):c.180C>T (p.Tyr60=) rs943965548 0.00001
NM_001365276.2(TNXB):c.2076C>T (p.Cys692=) rs1340605654 0.00001
NM_001365276.2(TNXB):c.2106G>A (p.Gln702=) rs758861786 0.00001
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) rs768607753 0.00001
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) rs751045102 0.00001
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) rs573740606 0.00001
NM_001365276.2(TNXB):c.3826T>C (p.Ser1276Pro) rs879263799 0.00001
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter) rs746016355 0.00001
NM_001365276.2(TNXB):c.5072G>A (p.Arg1691His) rs1442622305 0.00001
NM_001365276.2(TNXB):c.5098C>G (p.Gln1700Glu) rs200248536 0.00001
NM_001365276.2(TNXB):c.5619G>A (p.Thr1873=) rs758183918 0.00001
NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser) rs371794070 0.00001
NM_001365276.2(TNXB):c.6694G>A (p.Asp2232Asn) rs571291130 0.00001
NM_001365276.2(TNXB):c.6749C>T (p.Ser2250Leu) rs1778241867 0.00001
NM_001365276.2(TNXB):c.7045G>T (p.Val2349Leu) rs774516957 0.00001
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys) rs374803743 0.00001
NM_001365276.2(TNXB):c.7819G>A (p.Val2607Ile) rs757463918 0.00001
NM_001365276.2(TNXB):c.8101G>A (p.Gly2701Ser) rs367754667 0.00001
NM_001365276.2(TNXB):c.8200C>G (p.Pro2734Ala) rs200810612 0.00001
NM_001365276.2(TNXB):c.8389G>T (p.Gly2797Trp) rs747680383 0.00001
NM_001365276.2(TNXB):c.9188T>G (p.Leu3063Arg) rs554075676 0.00001
NM_001365276.2(TNXB):c.9271C>G (p.Leu3091Val) rs748558173 0.00001
NM_001367624.2(ZNF469):c.*649C>G rs561472955 0.00001
NM_001367624.2(ZNF469):c.*664C>T rs886052423 0.00001
NM_001367624.2(ZNF469):c.1015C>G (p.Gln339Glu) rs1415972199 0.00001
NM_001367624.2(ZNF469):c.10333C>T (p.Arg3445Trp) rs766994242 0.00001
NM_001367624.2(ZNF469):c.10459G>A (p.Gly3487Ser) rs1337695234 0.00001
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656 0.00001
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) rs957402222 0.00001
NM_001367624.2(ZNF469):c.11526C>T (p.Asp3842=) rs1213102834 0.00001
NM_001367624.2(ZNF469):c.11586C>G (p.Pro3862=) rs750184195 0.00001
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761 0.00001
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met) rs749374208 0.00001
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln) rs886052395 0.00001
NM_001367624.2(ZNF469):c.2394G>A (p.Leu798=) rs1172169587 0.00001
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=) rs767431034 0.00001
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=) rs886052398 0.00001
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399 0.00001
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) rs756703220 0.00001
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr) rs903409672 0.00001
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu) rs886052402 0.00001
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly) rs886052389 0.00001
NM_001367624.2(ZNF469):c.4885C>T (p.Arg1629Cys) rs887420180 0.00001
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile) rs768667107 0.00001
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) rs571207087 0.00001
NM_001367624.2(ZNF469):c.608C>T (p.Pro203Leu) rs1189536062 0.00001
NM_001367624.2(ZNF469):c.6413C>T (p.Ser2138Leu) rs530318278 0.00001
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=) rs370190101 0.00001
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929 0.00001
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg) rs886052408 0.00001
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409 0.00001
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met) rs553909579 0.00001
NM_001367624.2(ZNF469):c.7627C>T (p.Arg2543Trp) rs747677679 0.00001
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr) rs886052410 0.00001
NM_001367624.2(ZNF469):c.7900A>G (p.Lys2634Glu) rs998144294 0.00001
NM_001367624.2(ZNF469):c.796G>A (p.Gly266Ser) rs1874240607 0.00001
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=) rs766581620 0.00001
NM_001367624.2(ZNF469):c.8938G>A (p.Glu2980Lys) rs746790100 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=) rs886052416 0.00001
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp) rs886052417 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) rs887755283 0.00001
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe) rs782329906 0.00001
NM_001734.5(C1S):c.514G>A (p.Gly172Arg) rs375308014 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu) rs1295335940 0.00001
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile) rs780955667 0.00001
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val) rs780247302 0.00001
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys) rs1769480073 0.00001
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile) rs922525519 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala) rs1310849098 0.00001
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys) rs970722197 0.00001
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004370.6(COL12A1):c.1289-3C>T rs375570066 0.00001
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser) rs771816024 0.00001
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile) rs368199250 0.00001
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu) rs770461984 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly) rs1445434863 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086 0.00001
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr) rs1292052246 0.00001
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys) rs1440470491 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln) rs1478514196 0.00001
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413 0.00001
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe) rs1031869609 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala) rs758201181 0.00001
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe) rs756368336 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile) rs1318884120 0.00001
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn) rs1198986280 0.00001
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=) rs370677855 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp) rs931765391 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu) rs539562135 0.00001
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319 0.00001
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly) rs371518967 0.00001
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085 0.00001
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val) rs774904567 0.00001
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His) rs1768261055 0.00001
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His) rs370188326 0.00001
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His) rs1477957297 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys) rs760621245 0.00001
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883 0.00001
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile) rs1376226675 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala) rs1767720355 0.00001
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys) rs1337121359 0.00001
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp) rs749832842 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn) rs1003693918 0.00001
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu) rs990441297 0.00001
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748 0.00001
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met) rs1305647848 0.00001
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile) rs751811370 0.00001
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270 0.00001
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp) rs1183950908 0.00001
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val) rs1056626609 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val) rs1353013260 0.00001
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser) rs1220345277 0.00001
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val) rs1267769116 0.00001
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu) rs763614780 0.00001
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile) rs767232468 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu) rs74383804 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn) rs780006734 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln) rs775117257 0.00001
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val) rs1172593477 0.00001
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu) rs751657895 0.00001
NM_004370.6(COL12A1):c.511G>C (p.Asp171His) rs748076280 0.00001
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile) rs370108747 0.00001
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser) rs1329724602 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.5251+4A>G rs781348212 0.00001
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys) rs374747725 0.00001
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile) rs201205563 0.00001
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784 0.00001
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865 0.00001
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser) rs749681990 0.00001
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr) rs1479368774 0.00001
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg) rs371970739 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362 0.00001
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr) rs1162295476 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu) rs1179773170 0.00001
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His) rs1769820873 0.00001
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met) rs376487916 0.00001
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu) rs373325814 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930 0.00001
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln) rs1769819268 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu) rs1366573056 0.00001
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val) rs1339963289 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461 0.00001
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro) rs1298620930 0.00001
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile) rs1158867383 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met) rs1434449708 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys) rs1233096096 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.747G>A (p.Thr249=) rs553802363 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.7950+9A>G rs778327157 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly) rs1011310040 0.00001
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser) rs376931672 0.00001
NM_004370.6(COL12A1):c.8524-3T>C rs755782718 0.00001
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155 0.00001
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr) rs1427337137 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile) rs1273649550 0.00001
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492 0.00001
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser) rs1216270127 0.00001
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu) rs771010070 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln) rs778638053 0.00001
NM_004370.6(COL12A1):c.997+6T>C rs377225744 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
NM_005902.4(SMAD3):c.-10C>T rs777303695 0.00001
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn) rs1555405116 0.00001
NM_005902.4(SMAD3):c.303C>T (p.His101=) rs762889441 0.00001
NM_005902.4(SMAD3):c.567A>C (p.Gly189=) rs1313114326 0.00001
NM_007255.3(B4GALT7):c.20A>G (p.Lys7Arg) rs1370799068 0.00001
NM_007255.3(B4GALT7):c.311G>T (p.Arg104Leu) rs140590638 0.00001
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) rs568792091 0.00001
NM_007255.3(B4GALT7):c.413+4G>C rs761866281 0.00001
NM_007255.3(B4GALT7):c.413+6G>A rs566517243 0.00001
NM_007255.3(B4GALT7):c.487G>A (p.Asp163Asn) rs542850594 0.00001
NM_007255.3(B4GALT7):c.601G>A (p.Gly201Ser) rs935389752 0.00001
NM_007255.3(B4GALT7):c.614T>C (p.Leu205Pro) rs771458628 0.00001
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe) rs774917613 0.00001
NM_007255.3(B4GALT7):c.639+5G>A rs1421361359 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) rs1468472910 0.00001
NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn) rs753374573 0.00001
NM_007255.3(B4GALT7):c.733C>T (p.Pro245Ser) rs1429482924 0.00001
NM_007255.3(B4GALT7):c.757A>G (p.Lys253Glu) rs767799114 0.00001
NM_007255.3(B4GALT7):c.767G>A (p.Arg256His) rs764639019 0.00001
NM_007255.3(B4GALT7):c.811A>C (p.Ile271Leu) rs143680535 0.00001
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=) rs570926723 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_007255.3(B4GALT7):c.875A>G (p.Tyr292Cys) rs780922438 0.00001
NM_007255.3(B4GALT7):c.895G>A (p.Ala299Thr) rs771646034 0.00001
NM_007255.3(B4GALT7):c.914C>A (p.Ala305Asp) rs774322603 0.00001
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser) rs775032838 0.00001
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) rs767730463 0.00001
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys) rs746187739 0.00001
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe) rs1213902929 0.00001
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu) rs762084403 0.00001
NM_013352.4(DSE):c.17G>A (p.Arg6Gln) rs758271302 0.00001
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp) rs763787753 0.00001
NM_013352.4(DSE):c.2054T>C (p.Val685Ala) rs749911499 0.00001
NM_013352.4(DSE):c.2147G>A (p.Arg716His) rs549153887 0.00001
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) rs779169990 0.00001
NM_013352.4(DSE):c.2221A>G (p.Ile741Val) rs780336360 0.00001
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys) rs752624508 0.00001
NM_013352.4(DSE):c.2386A>G (p.Ile796Val) rs774012350 0.00001
NM_013352.4(DSE):c.404C>T (p.Ala135Val) rs370430595 0.00001
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) rs1057524129 0.00001
NM_014244.5(ADAMTS2):c.*174G>A rs1057408727 0.00001
NM_014244.5(ADAMTS2):c.*1777T>C rs1351159498 0.00001
NM_014244.5(ADAMTS2):c.*1941C>T rs886060485 0.00001
NM_014244.5(ADAMTS2):c.*518G>T rs1762600191 0.00001
NM_014244.5(ADAMTS2):c.*615T>C rs1762599095 0.00001
NM_014244.5(ADAMTS2):c.-2C>A rs1757919556 0.00001
NM_014244.5(ADAMTS2):c.1043T>A (p.Leu348His) rs746625854 0.00001
NM_014244.5(ADAMTS2):c.1057G>A (p.Asp353Asn) rs1264410712 0.00001
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617 0.00001
NM_014244.5(ADAMTS2):c.109G>A (p.Ala37Thr) rs1001487005 0.00001
NM_014244.5(ADAMTS2):c.1132+5G>A rs771663705 0.00001
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe) rs1064796637 0.00001
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser) rs200813745 0.00001
NM_014244.5(ADAMTS2):c.1270C>T (p.Arg424Cys) rs370919224 0.00001
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783 0.00001
NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp) rs761498949 0.00001
NM_014244.5(ADAMTS2):c.1309C>A (p.Pro437Thr) rs1763419968 0.00001
NM_014244.5(ADAMTS2):c.1375T>C (p.Tyr459His) rs1330093880 0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=) rs751565994 0.00001
NM_014244.5(ADAMTS2):c.1420G>A (p.Asp474Asn) rs750225306 0.00001
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu) rs762123346 0.00001
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.142G>C (p.Gly48Arg) rs769371687 0.00001
NM_014244.5(ADAMTS2):c.1478G>A (p.Arg493His) rs758348587 0.00001
NM_014244.5(ADAMTS2):c.1523C>A (p.Thr508Asn) rs1174952034 0.00001
NM_014244.5(ADAMTS2):c.1565A>G (p.Asn522Ser) rs1243941175 0.00001
NM_014244.5(ADAMTS2):c.1567C>T (p.Pro523Ser) rs1198309600 0.00001
NM_014244.5(ADAMTS2):c.157G>C (p.Gly53Arg) rs1392499776 0.00001
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys) rs1212597027 0.00001
NM_014244.5(ADAMTS2):c.1741G>A (p.Val581Met) rs778993977 0.00001
NM_014244.5(ADAMTS2):c.1819T>C (p.Phe607Leu) rs1238183487 0.00001
NM_014244.5(ADAMTS2):c.1834C>T (p.Arg612Cys) rs756757077 0.00001
NM_014244.5(ADAMTS2):c.1847C>T (p.Pro616Leu) rs1218050137 0.00001
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys) rs752401488 0.00001
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn) rs376707472 0.00001
NM_014244.5(ADAMTS2):c.2101G>A (p.Gly701Ser) rs755490840 0.00001
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp) rs997669873 0.00001
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu) rs768906337 0.00001
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg) rs779256197 0.00001
NM_014244.5(ADAMTS2):c.2266G>A (p.Val756Ile) rs780757881 0.00001
NM_014244.5(ADAMTS2):c.2279G>C (p.Ser760Thr) rs781493524 0.00001
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203 0.00001
NM_014244.5(ADAMTS2):c.2305G>C (p.Glu769Gln) rs867147371 0.00001
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile) rs749754452 0.00001
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp) rs376995938 0.00001
NM_014244.5(ADAMTS2):c.2558C>G (p.Ser853Cys) rs1057521585 0.00001
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu) rs372549560 0.00001
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555 0.00001
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=) rs370747086 0.00001
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu) rs751948505 0.00001
NM_014244.5(ADAMTS2):c.2713C>T (p.Arg905Cys) rs760156480 0.00001
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr) rs199617528 0.00001
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888 0.00001
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=) rs768036305 0.00001
NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp) rs776975672 0.00001
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144 0.00001
NM_014244.5(ADAMTS2):c.2902C>T (p.Arg968Trp) rs1473580610 0.00001
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785 0.00001
NM_014244.5(ADAMTS2):c.2939G>A (p.Arg980Gln) rs1441303816 0.00001
NM_014244.5(ADAMTS2):c.2958+14C>T rs755961602 0.00001
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg) rs553818378 0.00001
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109 0.00001
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys) rs373406403 0.00001
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser) rs1434954526 0.00001
NM_014244.5(ADAMTS2):c.3089-7C>A rs760424301 0.00001
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn) rs771197106 0.00001
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn) rs1252240288 0.00001
NM_014244.5(ADAMTS2):c.3258C>G (p.Asn1086Lys) rs1762622678 0.00001
NM_014244.5(ADAMTS2):c.3318A>G (p.Ile1106Met) rs773167287 0.00001
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065 0.00001
NM_014244.5(ADAMTS2):c.3508C>A (p.Leu1170Met) rs769503304 0.00001
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801 0.00001
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile) rs1278681689 0.00001
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln) rs772059202 0.00001
NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg) rs769813298 0.00001
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr) rs774483457 0.00001
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met) rs780603629 0.00001
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup) rs540605802 0.00001
NM_014244.5(ADAMTS2):c.563A>G (p.Glu188Gly) rs772175576 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495 0.00001
NM_014244.5(ADAMTS2):c.745C>T (p.His249Tyr) rs1764735032 0.00001
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=) rs751895494 0.00001
NM_014244.5(ADAMTS2):c.848G>A (p.Gly283Glu) rs760325496 0.00001
NM_014244.5(ADAMTS2):c.926C>T (p.Ala309Val) rs1253197089 0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=) rs767485549 0.00001
NM_017946.4(FKBP14):c.103C>A (p.Pro35Thr) rs143937777 0.00001
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr) rs750062960 0.00001
NM_017946.4(FKBP14):c.147G>C (p.Leu49Phe) rs761481531 0.00001
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr) rs769609634 0.00001
NM_017946.4(FKBP14):c.198-3T>C rs772253719 0.00001
NM_017946.4(FKBP14):c.218A>T (p.Gln73Leu) rs780382667 0.00001
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile) rs758100842 0.00001
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile) rs1198123802 0.00001
NM_017946.4(FKBP14):c.30G>C (p.Leu10Phe) rs1473185753 0.00001
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) rs1192635116 0.00001
NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr) rs201579172 0.00001
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr) rs751708321 0.00001
NM_017946.4(FKBP14):c.477+1G>A rs763168158 0.00001
NM_017946.4(FKBP14):c.478G>A (p.Val160Ile) rs768353747 0.00001
NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys) rs537455755 0.00001
NM_017946.4(FKBP14):c.512A>C (p.His171Pro) rs147665999 0.00001
NM_017946.4(FKBP14):c.543T>A (p.Asp181Glu) rs776599954 0.00001
NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly) rs761086215 0.00001
NM_017946.4(FKBP14):c.595A>G (p.Ile199Val) rs780572118 0.00001
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln) rs1281054139 0.00001
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1108C>T (p.His370Tyr) rs778780459 0.00001
NM_018699.4(PRDM5):c.1240C>T (p.Arg414Trp) rs371659094 0.00001
NM_018699.4(PRDM5):c.125A>C (p.Lys42Thr) rs1269597260 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_018699.4(PRDM5):c.1609C>A (p.Arg537Ser) rs1463793614 0.00001
NM_018699.4(PRDM5):c.465G>A (p.Ala155=) rs1405110509 0.00001
NM_018699.4(PRDM5):c.650+7A>G rs751182540 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018699.4(PRDM5):c.93+10_93+12del rs773523380 0.00001
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) rs1156566104 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly) rs766519442 0.00001
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys) rs765337103 0.00001
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) rs748952705 0.00001
NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) rs1260565985 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter) rs760986725 0.00001
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val) rs1422897152 0.00001
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser) rs760685441 0.00001
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653 0.00001
NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) rs777233616 0.00001
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe) rs1381077083 0.00001
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) rs374677519 0.00001
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) rs1638568014 0.00001
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu) rs1216124589 0.00001
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) rs1434211258 0.00001
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) rs1284101388 0.00001
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys) rs1250638849 0.00001
NM_130468.4(CHST14):c.1010A>G (p.His337Arg) rs772159874 0.00001
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr) rs896003662 0.00001
NM_130468.4(CHST14):c.318G>A (p.Gln106=) rs1351996669 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln) rs1484119071 0.00001
NM_130468.4(CHST14):c.439T>C (p.Tyr147His) rs775350610 0.00001
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg) rs1017593366 0.00001
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly) rs1595869476 0.00001
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) rs370299419 0.00001
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) rs766320306 0.00001
NM_130468.4(CHST14):c.871G>A (p.Val291Met) rs369563820 0.00001
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu) rs1389417786 0.00001
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) rs767533841 0.00001
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) rs373443856 0.00001
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) rs1555410784 0.00001
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_1167659)_(1168648_?)dup
NC_000001.10:g.(?_11847760)_(12066770_?)dup
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_11994837)_(12034865_?)dup
NC_000001.10:g.(?_12008013)_(12010597_?)del
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.10:g.(?_948954)_(1284445_?)dup
NC_000001.11:g.(?_1013554)_(1313808_?)del
NC_000001.11:g.(?_11934770)_(11934865_?)dup
NC_000002.11:g.(?_189849903)_(189957166_?)dup
NC_000002.11:g.(?_189860831)_(189861242_?)dup
NC_000002.11:g.(?_189898796)_(189953518_?)dup
NC_000002.12:g.(?_189078506)_(189081053_?)del
NC_000002.12:g.(?_189100087)_(189100159_?)del
NC_000005.10:g.(?_179113857)_(179345338_?)dup
NC_000005.10:g.(?_179121651)_(179122783_?)del
NC_000005.10:g.(?_179343757)_(179345338_?)dup
NC_000005.9:g.(?_175158654)_(179263593_?)dup
NC_000005.9:g.(?_176047812)_(177422934_?)del
NC_000005.9:g.(?_177027212)_(177027281_?)del
NC_000005.9:g.(?_177031160)_(178414004_?)dup
NC_000005.9:g.(?_178408658)_(178541345_?)dup
NC_000005.9:g.(?_178408658)_(178585900_?)del
NC_000005.9:g.(?_178540868)_(178700085_?)dup
NC_000005.9:g.(?_178562901)_(178700075_?)dup
NC_000005.9:g.(?_178699902)_(179263603_?)dup
NC_000005.9:g.(?_178770748)_(178772329_?)dup
NC_000005.9:g.(?_178770748)_(178772349_?)dup
NC_000006.11:g.(?_75796253)_(75855181_?)del
NC_000006.11:g.(?_75796263)_(75813546_?)dup
NC_000006.11:g.(?_75806949)_(75807042_?)del
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NC_000007.13:g.(?_30049199)_(30067417_?)dup
NC_000007.13:g.(?_30054351)_(31018859_?)dup
NC_000007.13:g.(?_94024344)_(94059705_?)dup
NC_000007.13:g.(?_94027674)_(94027728_?)del
NC_000007.13:g.(?_94040181)_(94059705_?)dup
NC_000007.14:g.(?_30010573)_(30014903_?)del
NC_000007.14:g.(?_94395022)_(94585525_?)dup
NC_000009.11:g.(?_134379574)_(138678377_?)dup
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137534028)_(137534148_?)dup
NC_000009.11:g.(?_137534034)_(137630674_?)dup
NC_000009.11:g.(?_137534034)_(139440238_?)dup
NC_000009.11:g.(?_137619102)_(137619253_?)del
NC_000009.11:g.(?_137623322)_(137623993_?)del
NC_000009.11:g.(?_137703323)_(137734200_?)del
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134727246)_(134728827_?)del
NC_000009.12:g.(?_134789143)_(134789218_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NC_000009.12:g.(?_134842147)_(134842313_?)del
NC_000015.9:g.(?_40763403)_(40764553_?)dup
NC_000015.9:g.(?_40763413)_(40764543_?)dup
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.3584T>A (p.Ile1195Asn) rs2149109593
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027G>T rs200882287
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*1316C>G rs967567610
NM_000088.4(COL1A1):c.*1324A>G rs886053140
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*356T>A rs1906365029
NM_000088.4(COL1A1):c.*437A>C rs886053150
NM_000088.4(COL1A1):c.*623G>A rs886053149
NM_000088.4(COL1A1):c.*73C>A rs1906402899
NM_000088.4(COL1A1):c.*815A>G rs886053146
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000088.4(COL1A1):c.-98G>C rs574683904
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=) rs774708577
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1296C>G (p.Asn432Lys) rs2144575369
NM_000088.4(COL1A1):c.1354-8del rs765450816
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1461+5G>A
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) rs762086114
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.4(COL1A1):c.1984-6C>T rs373873548
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu) rs138749826
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) rs1423591325
NM_000088.4(COL1A1):c.2560-5T>C rs2144552369
NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser) rs771918127
NM_000088.4(COL1A1):c.2668-10C>G rs1262974236
NM_000088.4(COL1A1):c.2760T>A (p.Gly920=) rs2144550223
NM_000088.4(COL1A1):c.3099+7T>G rs201682029
NM_000088.4(COL1A1):c.3755G>C (p.Arg1252Pro) rs371904584
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.4(COL1A1):c.522A>C (p.Gly174=) rs770454346
NM_000088.4(COL1A1):c.696+10C>G rs1214116636
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.839C>A (p.Ala280Asp) rs1189053829
NM_000088.4(COL1A1):c.858+7G>A rs1250228424
NM_000088.4(COL1A1):c.864G>T (p.Glu288Asp) rs2144581372
NM_000088.4(COL1A1):c.957+15C>T rs779096006
NM_000089.3(COL1A2):c.-150G>C rs1584310114
NM_000089.3(COL1A2):c.-152G>A rs769123288
NM_000089.3(COL1A2):c.-194C>T rs1180929889
NM_000089.3(COL1A2):c.-204T>G rs908653050
NM_000089.3(COL1A2):c.-264C>A rs182924222
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-397A>T rs1791544304
NM_000089.3(COL1A2):c.-418G>A rs939882798
NM_000089.4(COL1A2):c.*329A>G rs1235561698
NM_000089.4(COL1A2):c.*469A>G rs1792387263
NM_000089.4(COL1A2):c.*561T>C rs1792389230
NM_000089.4(COL1A2):c.*618T>C rs557107553
NM_000089.4(COL1A2):c.*638C>T rs1792391514
NM_000089.4(COL1A2):c.-87C>T rs886062513
NM_000089.4(COL1A2):c.1022_1033del (p.Ala341_Leu344del) rs1584319451
NM_000089.4(COL1A2):c.1035+4A>T
NM_000089.4(COL1A2):c.1041G>T (p.Glu347Asp)
NM_000089.4(COL1A2):c.1058C>T (p.Ser353Phe)
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp) rs1057518430
NM_000089.4(COL1A2):c.1080G>A (p.Lys360=)
NM_000089.4(COL1A2):c.1089C>G (p.Pro363=) rs748961276
NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)
NM_000089.4(COL1A2):c.1124G>T (p.Ser375Ile)
NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)
NM_000089.4(COL1A2):c.114A>G (p.Arg38=) rs1462108134
NM_000089.4(COL1A2):c.1178C>A (p.Pro393Gln)
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.4(COL1A2):c.1213C>T (p.Arg405Cys)
NM_000089.4(COL1A2):c.1228G>T (p.Ala410Ser) rs1235071648
NM_000089.4(COL1A2):c.1240G>A (p.Ala414Thr)
NM_000089.4(COL1A2):c.1251+5G>C
NM_000089.4(COL1A2):c.1252-6del rs886062516
NM_000089.4(COL1A2):c.1264A>T (p.Ser422Cys)
NM_000089.4(COL1A2):c.1273G>A (p.Ala425Thr)
NM_000089.4(COL1A2):c.1277G>C (p.Ser426Thr)
NM_000089.4(COL1A2):c.1277G>T (p.Ser426Ile) rs376629202
NM_000089.4(COL1A2):c.1326G>T (p.Gly442=) rs779173151
NM_000089.4(COL1A2):c.133-3C>A rs1562897561
NM_000089.4(COL1A2):c.1340T>A (p.Met447Lys) rs1446399667
NM_000089.4(COL1A2):c.1376T>C (p.Ile459Thr) rs2115902728
NM_000089.4(COL1A2):c.1384G>A (p.Ala462Thr) rs562290953
NM_000089.4(COL1A2):c.1393G>C (p.Glu465Gln) rs1562902082
NM_000089.4(COL1A2):c.1399C>T (p.Pro467Ser)
NM_000089.4(COL1A2):c.1408C>T (p.Leu470Phe)
NM_000089.4(COL1A2):c.1418T>C (p.Ile473Thr)
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
NM_000089.4(COL1A2):c.1422C>G (p.Asp474Glu)
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
NM_000089.4(COL1A2):c.1438A>C (p.Ile480Leu) rs778238943
NM_000089.4(COL1A2):c.1438A>G (p.Ile480Val)
NM_000089.4(COL1A2):c.1444C>A (p.Pro482Thr)
NM_000089.4(COL1A2):c.1446_1447delinsCA (p.Ala483Thr) rs2115904550
NM_000089.4(COL1A2):c.145C>A (p.Pro49Thr)
NM_000089.4(COL1A2):c.146C>A (p.Pro49His)
NM_000089.4(COL1A2):c.1474A>T (p.Ile492Phe) rs776551401
NM_000089.4(COL1A2):c.1498C>G (p.Pro500Ala) rs2115904764
NM_000089.4(COL1A2):c.149C>T (p.Pro50Leu) rs377637698
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
NM_000089.4(COL1A2):c.1503+5G>A
NM_000089.4(COL1A2):c.150A>G (p.Pro50=) rs369695645
NM_000089.4(COL1A2):c.1510C>A (p.Pro504Thr)
NM_000089.4(COL1A2):c.1535_1543dup (p.His512_Gly514dup) rs1791961847
NM_000089.4(COL1A2):c.1546G>T (p.Ala516Ser) rs1185283931
NM_000089.4(COL1A2):c.1557+6T>C
NM_000089.4(COL1A2):c.1562C>T (p.Ala521Val)
NM_000089.4(COL1A2):c.1570C>T (p.Pro524Ser) rs1791979962
NM_000089.4(COL1A2):c.157G>A (p.Asp53Asn)
NM_000089.4(COL1A2):c.159T>A (p.Asp53Glu)
NM_000089.4(COL1A2):c.1601C>T (p.Pro534Leu)
NM_000089.4(COL1A2):c.1645C>T (p.Pro549Ser) rs42524
NM_000089.4(COL1A2):c.1652C>T (p.Pro551Leu)
NM_000089.4(COL1A2):c.1665+14_1665+15delinsCG
NM_000089.4(COL1A2):c.1678C>A (p.Pro560Thr) rs2115910291
NM_000089.4(COL1A2):c.1700T>C (p.Val567Ala)
NM_000089.4(COL1A2):c.1705A>G (p.Lys569Glu) rs2115910396
NM_000089.4(COL1A2):c.1719+19A>G
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
NM_000089.4(COL1A2):c.1750C>A (p.Pro584Thr)
NM_000089.4(COL1A2):c.1765-5T>C rs2115916781
NM_000089.4(COL1A2):c.1772G>A (p.Arg591His)
NM_000089.4(COL1A2):c.1772G>C (p.Arg591Pro)
NM_000089.4(COL1A2):c.1789A>G (p.Ser597Gly)
NM_000089.4(COL1A2):c.179G>A (p.Gly60Asp)
NM_000089.4(COL1A2):c.1816A>G (p.Ile606Val)
NM_000089.4(COL1A2):c.1826G>A (p.Arg609Gln)
NM_000089.4(COL1A2):c.1840C>T (p.Pro614Ser)
NM_000089.4(COL1A2):c.1888G>A (p.Val630Met)
NM_000089.4(COL1A2):c.1890G>A (p.Val630=)
NM_000089.4(COL1A2):c.1895C>G (p.Thr632Ser)
NM_000089.4(COL1A2):c.1898C>G (p.Ala633Gly) rs2115921517
NM_000089.4(COL1A2):c.1908T>A (p.Ser636=) rs1584324517
NM_000089.4(COL1A2):c.1912C>T (p.Pro638Ser)
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu) rs1064797338
NM_000089.4(COL1A2):c.1943C>T (p.Ala648Val)
NM_000089.4(COL1A2):c.1948A>G (p.Ile650Val) rs781672171
NM_000089.4(COL1A2):c.1952C>T (p.Pro651Leu)
NM_000089.4(COL1A2):c.1971+3A>G rs756587993
NM_000089.4(COL1A2):c.1971+3A>T rs756587993
NM_000089.4(COL1A2):c.1971+4C>T
NM_000089.4(COL1A2):c.1987A>G (p.Arg663Gly)
NM_000089.4(COL1A2):c.199C>T (p.Pro67Ser)
NM_000089.4(COL1A2):c.1A>T (p.Met1Leu)
NM_000089.4(COL1A2):c.2025+4A>G
NM_000089.4(COL1A2):c.2074G>A (p.Asp692Asn)
NM_000089.4(COL1A2):c.2083G>A (p.Glu695Lys)
NM_000089.4(COL1A2):c.208C>T (p.Pro70Ser)
NM_000089.4(COL1A2):c.2095G>C (p.Ala699Pro)
NM_000089.4(COL1A2):c.2095GCTGGTCCT[4] (p.Pro707_Arg708insAlaGlyPro)
NM_000089.4(COL1A2):c.2101C>G (p.Pro701Ala)
NM_000089.4(COL1A2):c.2113G>T (p.Ala705Ser)
NM_000089.4(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.4(COL1A2):c.2140C>G (p.Arg714Gly)
NM_000089.4(COL1A2):c.2141G>T (p.Arg714Leu) rs773392397
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.4(COL1A2):c.2187+14A>G rs1792135004
NM_000089.4(COL1A2):c.2187+6T>A rs794727585
NM_000089.4(COL1A2):c.2188-6_2188-1dup
NM_000089.4(COL1A2):c.2194G>A (p.Ala732Thr)
NM_000089.4(COL1A2):c.2245G>C (p.Glu749Gln)
NM_000089.4(COL1A2):c.2276T>C (p.Val759Ala)
NM_000089.4(COL1A2):c.2282C>G (p.Ala761Gly)
NM_000089.4(COL1A2):c.2295+3A>C rs757560633
NM_000089.4(COL1A2):c.2295+5G>C rs2115932392
NM_000089.4(COL1A2):c.2295T>C (p.Ala765=)
NM_000089.4(COL1A2):c.2296-3T>G
NM_000089.4(COL1A2):c.22C>T (p.Arg8Trp)
NM_000089.4(COL1A2):c.2329C>G (p.Arg777Gly)
NM_000089.4(COL1A2):c.2329C>T (p.Arg777Cys) rs779108678
NM_000089.4(COL1A2):c.2329_2331del (p.Arg777del)
NM_000089.4(COL1A2):c.2345C>T (p.Pro782Leu)
NM_000089.4(COL1A2):c.2349+3G>A
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
NM_000089.4(COL1A2):c.2398C>G (p.Pro800Ala)
NM_000089.4(COL1A2):c.2403+3A>G
NM_000089.4(COL1A2):c.2404-15T>C
NM_000089.4(COL1A2):c.2404-17del
NM_000089.4(COL1A2):c.2429C>G (p.Pro810Arg)
NM_000089.4(COL1A2):c.2455C>T (p.Arg819Cys) rs2115941044
NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)
NM_000089.4(COL1A2):c.2464C>T (p.Arg822Cys)
NM_000089.4(COL1A2):c.2474A>C (p.Gln825Pro) rs556922843
NM_000089.4(COL1A2):c.2474A>G (p.Gln825Arg)
NM_000089.4(COL1A2):c.2482G>T (p.Val828Phe)
NM_000089.4(COL1A2):c.2488C>G (p.Arg830Gly)
NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)
NM_000089.4(COL1A2):c.2515C>T (p.Pro839Ser)
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
NM_000089.4(COL1A2):c.2550A>G (p.Gly850=)
NM_000089.4(COL1A2):c.2550A>T (p.Gly850=)
NM_000089.4(COL1A2):c.2553G>A (p.Glu851=) rs1288784071
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
NM_000089.4(COL1A2):c.2554G>T (p.Ala852Ser)
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2596C>G (p.Leu866Val) rs538945650
NM_000089.4(COL1A2):c.2596CTT[1] (p.Leu867del)
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
NM_000089.4(COL1A2):c.266G>T (p.Gly89Val)
NM_000089.4(COL1A2):c.2673+6T>A
NM_000089.4(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.2674-9C>A rs2115949204
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
NM_000089.4(COL1A2):c.2717G>C (p.Arg906Pro) rs147063981
NM_000089.4(COL1A2):c.2740A>G (p.Ser914Gly)
NM_000089.4(COL1A2):c.2758G>T (p.Ala920Ser)
NM_000089.4(COL1A2):c.2771C>G (p.Ala924Gly)
NM_000089.4(COL1A2):c.2776C>T (p.Arg926Cys)
NM_000089.4(COL1A2):c.2781+16G>A
NM_000089.4(COL1A2):c.2782-13G>A
NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)
NM_000089.4(COL1A2):c.279+3A>G
NM_000089.4(COL1A2):c.280-7_280-3del rs2115874855
NM_000089.4(COL1A2):c.2830C>T (p.His944Tyr) rs1476399806
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys) rs779303344
NM_000089.4(COL1A2):c.2858A>G (p.Asn953Ser)
NM_000089.4(COL1A2):c.2879C>T (p.Ala960Val) rs1482901474
NM_000089.4(COL1A2):c.2880A>T (p.Ala960=)
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg) rs1437648908
NM_000089.4(COL1A2):c.2904C>G (p.Pro968=) rs142352627
NM_000089.4(COL1A2):c.2939A>G (p.Glu980Gly) rs2115952651
NM_000089.4(COL1A2):c.2947C>T (p.Pro983Ser)
NM_000089.4(COL1A2):c.2960T>C (p.Val987Ala) rs1584330105
NM_000089.4(COL1A2):c.2977G>C (p.Val993Leu) rs1792270576
NM_000089.4(COL1A2):c.2997+6T>A rs1584330154
NM_000089.4(COL1A2):c.29T>G (p.Leu10Trp)
NM_000089.4(COL1A2):c.3013C>T (p.Arg1005Cys)
NM_000089.4(COL1A2):c.302C>T (p.Pro101Leu)
NM_000089.4(COL1A2):c.3049A>G (p.Arg1017Gly)
NM_000089.4(COL1A2):c.304C>A (p.Pro102Thr) rs189557655
NM_000089.4(COL1A2):c.305C>G (p.Pro102Arg) rs780850548
NM_000089.4(COL1A2):c.3074A>G (p.His1025Arg)
NM_000089.4(COL1A2):c.3090T>A (p.Gly1030=)
NM_000089.4(COL1A2):c.3106-11T>C rs1792292305
NM_000089.4(COL1A2):c.3118G>T (p.Asp1040Tyr)
NM_000089.4(COL1A2):c.3130C>T (p.Pro1044Ser)
NM_000089.4(COL1A2):c.3159+3A>C rs2115957293
NM_000089.4(COL1A2):c.3159+6T>A rs2115957317
NM_000089.4(COL1A2):c.3163C>T (p.Pro1055Ser)
NM_000089.4(COL1A2):c.3176C>T (p.Ser1059Phe)
NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)
NM_000089.4(COL1A2):c.3208C>T (p.His1070Tyr)
NM_000089.4(COL1A2):c.3210T>A (p.His1070Gln) rs2115957891
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) rs763974489
NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)
NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)
NM_000089.4(COL1A2):c.3267+5G>C rs2115958193
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=) rs548761767
NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5]) rs74315103
NM_000089.4(COL1A2):c.3289C>T (p.Pro1097Ser)
NM_000089.4(COL1A2):c.32T>C (p.Leu11Ser)
NM_000089.4(COL1A2):c.3319G>T (p.Gly1107Cys) rs745396382
NM_000089.4(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro) rs193922168
NM_000089.4(COL1A2):c.3360C>A (p.Asp1120Glu)
NM_000089.4(COL1A2):c.3367C>T (p.Arg1123Cys) rs765271962
NM_000089.4(COL1A2):c.3368G>A (p.Arg1123His) rs145541630
NM_000089.4(COL1A2):c.3368G>C (p.Arg1123Pro)
NM_000089.4(COL1A2):c.3382C>T (p.Leu1128Phe)
NM_000089.4(COL1A2):c.3403G>T (p.Val1135Phe)
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly) rs745366015
NM_000089.4(COL1A2):c.3407A>T (p.Asp1136Val) rs745366015
NM_000089.4(COL1A2):c.341A>G (p.Gln114Arg) rs2115875606
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His) rs374282276
NM_000089.4(COL1A2):c.3430A>T (p.Asn1144Tyr) rs374282276
NM_000089.4(COL1A2):c.3439G>C (p.Glu1147Gln) rs746701185
NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)
NM_000089.4(COL1A2):c.3463T>A (p.Ser1155Thr)
NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)
NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)
NM_000089.4(COL1A2):c.3481C>T (p.Arg1161Cys)
NM_000089.4(COL1A2):c.3482G>T (p.Arg1161Leu) rs542912072
NM_000089.4(COL1A2):c.3488G>A (p.Cys1163Tyr) rs1792314999
NM_000089.4(COL1A2):c.3502C>A (p.Leu1168Ile)
NM_000089.4(COL1A2):c.350C>T (p.Ala117Val)
NM_000089.4(COL1A2):c.3526+3A>G
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del) rs1554398685
NM_000089.4(COL1A2):c.3556T>C (p.Cys1186Arg) rs1421198378
NM_000089.4(COL1A2):c.3559A>G (p.Thr1187Ala)
NM_000089.4(COL1A2):c.3562A>G (p.Met1188Val)
NM_000089.4(COL1A2):c.3565G>A (p.Asp1189Asn)
NM_000089.4(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.4(COL1A2):c.3571A>G (p.Ile1191Val) rs1792328980
NM_000089.4(COL1A2):c.3575A>G (p.Lys1192Arg)
NM_000089.4(COL1A2):c.3586G>T (p.Asp1196Tyr) rs1792329797
NM_000089.4(COL1A2):c.3601G>A (p.Glu1201Lys)
NM_000089.4(COL1A2):c.3616G>C (p.Ala1206Pro) rs200492800
NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)
NM_000089.4(COL1A2):c.3625G>A (p.Glu1209Lys) rs267601644
NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)
NM_000089.4(COL1A2):c.3635C>T (p.Pro1212Leu)
NM_000089.4(COL1A2):c.3656G>A (p.Ser1219Asn) rs1554398702
NM_000089.4(COL1A2):c.367C>A (p.Pro123Thr) rs774383359
NM_000089.4(COL1A2):c.368C>A (p.Pro123His) rs1791759808
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=) rs1792333529
NM_000089.4(COL1A2):c.3711+3G>A
NM_000089.4(COL1A2):c.3711+6G>A
NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)
NM_000089.4(COL1A2):c.3748A>G (p.Met1250Val) rs1792349508
NM_000089.4(COL1A2):c.3760C>T (p.Leu1254Phe)
NM_000089.4(COL1A2):c.3769A>G (p.Met1257Val) rs1792350190
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.379-3T>C
NM_000089.4(COL1A2):c.3797A>C (p.Gln1266Pro)
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)
NM_000089.4(COL1A2):c.3832T>C (p.Tyr1278His)
NM_000089.4(COL1A2):c.3835A>T (p.Met1279Leu)
NM_000089.4(COL1A2):c.3836T>C (p.Met1279Thr)
NM_000089.4(COL1A2):c.3838G>A (p.Asp1280Asn)
NM_000089.4(COL1A2):c.3852C>T (p.Gly1284=) rs663
NM_000089.4(COL1A2):c.3866C>G (p.Ala1289Gly)
NM_000089.4(COL1A2):c.3880G>C (p.Gly1294Arg) rs2115966913
NM_000089.4(COL1A2):c.3889G>A (p.Asp1297Asn)
NM_000089.4(COL1A2):c.3897A>C (p.Glu1299Asp)
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe) rs1725653924
NM_000089.4(COL1A2):c.3902T>C (p.Val1301Ala)
NM_000089.4(COL1A2):c.392C>T (p.Ala131Val)
NM_000089.4(COL1A2):c.3936dup (p.Leu1313fs) rs2115967082
NM_000089.4(COL1A2):c.3949T>C (p.Cys1317Arg) rs1792355097
NM_000089.4(COL1A2):c.394C>T (p.Arg132Cys)
NM_000089.4(COL1A2):c.3950G>A (p.Cys1317Tyr) rs2115967180
NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)
NM_000089.4(COL1A2):c.3977A>T (p.Lys1326Met) rs943353660
NM_000089.4(COL1A2):c.4028A>G (p.Asp1343Gly)
NM_000089.4(COL1A2):c.4047C>G (p.Ile1349Met)
NM_000089.4(COL1A2):c.4063G>T (p.Glu1355Ter) rs760626067
NM_000089.4(COL1A2):c.4069T>C (p.Phe1357Leu)
NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)
NM_000089.4(COL1A2):c.417C>T (p.Gly139=)
NM_000089.4(COL1A2):c.439C>T (p.Pro147Ser) rs1791770915
NM_000089.4(COL1A2):c.440C>G (p.Pro147Arg)
NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys) rs1791771795
NM_000089.4(COL1A2):c.472G>A (p.Val158Ile) rs750224681
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.490G>A (p.Ala164Thr)
NM_000089.4(COL1A2):c.500T>C (p.Phe167Ser)
NM_000089.4(COL1A2):c.511C>T (p.Pro171Ser) rs2115879087
NM_000089.4(COL1A2):c.517C>T (p.Leu173Phe)
NM_000089.4(COL1A2):c.520C>T (p.Pro174Ser)
NM_000089.4(COL1A2):c.529A>C (p.Lys177Gln) rs1222909339
NM_000089.4(COL1A2):c.531A>C (p.Lys177Asn)
NM_000089.4(COL1A2):c.581C>T (p.Ala194Val)
NM_000089.4(COL1A2):c.58G>A (p.Ala20Thr)
NM_000089.4(COL1A2):c.594+15A>G rs1791795919
NM_000089.4(COL1A2):c.595-5T>G
NM_000089.4(COL1A2):c.635A>C (p.Gln212Pro)
NM_000089.4(COL1A2):c.639+3A>G rs2115886901
NM_000089.4(COL1A2):c.639+4A>T
NM_000089.4(COL1A2):c.639+4_639+7del
NM_000089.4(COL1A2):c.639A>G (p.Thr213=) rs1015392105
NM_000089.4(COL1A2):c.653T>G (p.Leu218Arg)
NM_000089.4(COL1A2):c.665G>C (p.Arg222Thr)
NM_000089.4(COL1A2):c.693+2dup rs2115888133
NM_000089.4(COL1A2):c.693+5G>A
NM_000089.4(COL1A2):c.693+6T>G rs2115888140
NM_000089.4(COL1A2):c.709G>A (p.Asp237Asn)
NM_000089.4(COL1A2):c.718G>A (p.Val240Met)
NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)
NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.4(COL1A2):c.739-3C>T
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648
NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000089.4(COL1A2):c.781C>G (p.Pro261Ala) rs141075408
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
NM_000089.4(COL1A2):c.792+6A>C
NM_000089.4(COL1A2):c.798A>C (p.Glu266Asp)
NM_000089.4(COL1A2):c.79G>A (p.Glu27Lys)
NM_000089.4(COL1A2):c.817G>T (p.Ala273Ser)
NM_000089.4(COL1A2):c.81G>C (p.Glu27Asp) rs2115851777
NM_000089.4(COL1A2):c.82-6T>C
NM_000089.4(COL1A2):c.824C>T (p.Pro275Leu)
NM_000089.4(COL1A2):c.82G>A (p.Glu28Lys) rs1479695906
NM_000089.4(COL1A2):c.832C>G (p.Pro278Ala)
NM_000089.4(COL1A2):c.833C>T (p.Pro278Leu) rs2115892207
NM_000089.4(COL1A2):c.835G>C (p.Ala279Pro) rs374616916
NM_000089.4(COL1A2):c.836C>G (p.Ala279Gly)
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
NM_000089.4(COL1A2):c.854T>C (p.Val285Ala)
NM_000089.4(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe) rs145693444
NM_000089.4(COL1A2):c.887C>A (p.Pro296His)
NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)
NM_000089.4(COL1A2):c.891+4A>G
NM_000089.4(COL1A2):c.891T>G (p.Pro297=)
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr) rs2115893108
NM_000089.4(COL1A2):c.896A>G (p.Asn299Ser)
NM_000089.4(COL1A2):c.970C>T (p.Pro324Ser) rs2115894024
NM_000089.4(COL1A2):c.976C>A (p.Pro326Thr) rs1791879479
NM_000089.4(COL1A2):c.979C>T (p.Arg327Cys)
NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)
NM_000090.4(COL3A1):c.*113C>T rs886055336
NM_000090.4(COL3A1):c.*317C>A rs886055337
NM_000090.4(COL3A1):c.*325C>A rs886055338
NM_000090.4(COL3A1):c.*370A>G rs886055339
NM_000090.4(COL3A1):c.*371G>T rs886055340
NM_000090.4(COL3A1):c.*413T>A rs1027214857
NM_000090.4(COL3A1):c.*508T>C rs1688745206
NM_000090.4(COL3A1):c.*600G>T rs1688747004
NM_000090.4(COL3A1):c.*625C>T rs886055342
NM_000090.4(COL3A1):c.*692G>A rs886055343
NM_000090.4(COL3A1):c.*906C>G rs1306575962
NM_000090.4(COL3A1):c.*947C>T rs886055345
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
NM_000090.4(COL3A1):c.1013C>T (p.Pro338Leu) rs2153502229
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp) rs1688217809
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu) rs1688218053
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile) rs368703012
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala) rs1688218490
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His)
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro)
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser)
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg) rs1464219199
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr)
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu) rs1060500205
NM_000090.4(COL3A1):c.111G>C (p.Gln37His) rs2153501346
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln)
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg) rs1688231206
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu)
NM_000090.4(COL3A1):c.1195-13G>A
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser) rs1229093142
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly) rs201380807
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro) rs373858715
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn) rs794728035
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val) rs1026603456
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp)
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His) rs1408351089
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser)
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val)
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=) rs527291598
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu) rs1243746897
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys) rs1238066761
NM_000090.4(COL3A1):c.1342G>A (p.Glu448Lys) rs1553507955
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=)
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.1348-4dup rs758567906
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser)
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) rs2153502439
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp)
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser) rs1425504057
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys)
NM_000090.4(COL3A1):c.1455+4C>T rs1422454033
NM_000090.4(COL3A1):c.1455+5G>A rs774425143
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser)
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser)
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr) rs926106259
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro)
NM_000090.4(COL3A1):c.1541C>A (p.Pro514His)
NM_000090.4(COL3A1):c.1550C>A (p.Pro517His) rs142085247
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg) rs142085247
NM_000090.4(COL3A1):c.156A>G (p.Ile52Met)
NM_000090.4(COL3A1):c.1608+6G>C rs1688293957
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg) rs868705044
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu) rs1330285574
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu) rs1688305869
NM_000090.4(COL3A1):c.1662+14T>A rs910613076
NM_000090.4(COL3A1):c.1662+4T>C rs1319321003
NM_000090.4(COL3A1):c.1662+4T>G rs1319321003
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=) rs373963384
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) rs1688319466
NM_000090.4(COL3A1):c.1667G>T (p.Ser556Ile)
NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn)
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
NM_000090.4(COL3A1):c.1706C>G (p.Ser569Cys)
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.1762-3T>C
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) rs1327158014
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile)
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala) rs35795890
NM_000090.4(COL3A1):c.1815+6T>C rs1688347657
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala)
NM_000090.4(COL3A1):c.1857C>T (p.Pro619=)
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu)
NM_000090.4(COL3A1):c.1869+3A>C rs1576467168
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala)
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn) rs1688031625
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn) rs1688361531
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) rs769039976
NM_000090.4(COL3A1):c.18A>C (p.Gln6His)
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) rs762129273
NM_000090.4(COL3A1):c.1924-13_1924-2del
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val) rs1440480352
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg)
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.4(COL3A1):c.1977+5G>C rs1553508544
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser) rs1688385247
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu) rs1687765120
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2021A>G (p.Lys674Arg)
NM_000090.4(COL3A1):c.2022+4G>A rs886038865
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly) rs2153502991
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser)
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val) rs199851835
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=)
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys)
NM_000090.4(COL3A1):c.2098C>A (p.Pro700Thr)
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser) rs1261828944
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala) rs762687549
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser) rs780123051
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu) rs1688401669
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu) rs1688402397
NM_000090.4(COL3A1):c.2121+4del rs1688402573
NM_000090.4(COL3A1):c.2122-11C>G
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp)
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu) rs780028064
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe) rs2153503026
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val)
NM_000090.4(COL3A1):c.2156C>G (p.Ala719Gly) rs1559058681
NM_000090.4(COL3A1):c.2224G>T (p.Asp742Tyr)
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu)
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser)
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly)
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp) rs200390941
NM_000090.4(COL3A1):c.2269A>G (p.Lys757Glu)
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly) rs2153503070
NM_000090.4(COL3A1):c.2283+5G>A
NM_000090.4(COL3A1):c.2299A>G (p.Ile767Val)
NM_000090.4(COL3A1):c.2299A>T (p.Ile767Phe)
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser) rs1688032952
NM_000090.4(COL3A1):c.22G>A (p.Gly8Arg) rs1687765852
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr)
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp) rs370292679
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile)
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser) rs749803388
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr) rs1179918994
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His) rs1332613006
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro)
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg)
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser)
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val)
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu) rs2153500011
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser)
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser) rs1576460785
NM_000090.4(COL3A1):c.2445+5G>A rs587779636
NM_000090.4(COL3A1):c.2446-15T>A
NM_000090.4(COL3A1):c.2458G>A (p.Glu820Lys)
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe) rs1688502124
NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala) rs1466306398
NM_000090.4(COL3A1):c.2525C>T (p.Ala842Val)
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala) rs780490668
NM_000090.4(COL3A1):c.253T>C (p.Cys85Arg)
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val) rs1336654706
NM_000090.4(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile)
NM_000090.4(COL3A1):c.257C>T (p.Ala86Val)
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.2593A>G (p.Ser865Gly)
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro) rs1475390693
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser) rs761222859
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu) rs1419949637
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly)
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=) rs1306865410
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala) rs794728053
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu) rs1447793042
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu)
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser) rs991559993
NM_000090.4(COL3A1):c.2784A>C (p.Gln928His) rs2153503501
NM_000090.4(COL3A1):c.278C>A (p.Thr93Asn) rs2153501376
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr) rs1688533171
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) rs1221479337
NM_000090.4(COL3A1):c.282+13A>T rs754113375
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe) rs1060500198
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu)
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val) rs2153503530
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly) rs768671254
NM_000090.4(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu) rs1197947308
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.4(COL3A1):c.2931+3G>C
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg)
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro) rs770525372
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.2981C>A (p.Pro994His) rs1688563132
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu) rs1688563132
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser) rs1421131137
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser) rs1060500202
NM_000090.4(COL3A1):c.2993A>G (p.Gln998Arg) rs139859476
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu) rs139859476
NM_000090.4(COL3A1):c.301G>T (p.Gly101Cys)
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln)
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser)
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
NM_000090.4(COL3A1):c.3040-3C>G rs2153503706
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu)
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
NM_000090.4(COL3A1):c.3082C>T (p.Pro1028Ser) rs2153503710
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
NM_000090.4(COL3A1):c.3093+3A>C rs771429937
NM_000090.4(COL3A1):c.3093+5A>G rs1688583785
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=) rs1688583589
NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser)
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=) rs1399453028
NM_000090.4(COL3A1):c.3119C>T (p.Pro1040Leu)
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) rs2153503729
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser) rs1576471847
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg) rs1576471860
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn) rs886039067
NM_000090.4(COL3A1):c.3201+10C>G rs372405344
NM_000090.4(COL3A1):c.3202-5C>T rs1417576506
NM_000090.4(COL3A1):c.3204CCCTGCTGG[3] (p.1069PAG[3]) rs771791598
NM_000090.4(COL3A1):c.3209C>G (p.Ala1070Gly)
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser) rs1688598580
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
NM_000090.4(COL3A1):c.3256-43T>G rs587779667
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser) rs1688619897
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu) rs576166457
NM_000090.4(COL3A1):c.3277G>A (p.Asp1093Asn) rs2153503891
NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser)
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr)
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg) rs1688621770
NM_000090.4(COL3A1):c.333+4A>G rs1688041454
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu) rs1376067428
NM_000090.4(COL3A1):c.334-3T>C rs2153501467
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu)
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp)
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser) rs1688630479
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His)
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val) rs1688631496
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser)
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys) rs964468427
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser) rs1287518692
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn) rs1688635701
NM_000090.4(COL3A1):c.3458C>G (p.Thr1153Ser) rs2153503972
NM_000090.4(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup) rs1576472935
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu) rs1378423439
NM_000090.4(COL3A1):c.347T>C (p.Ile116Thr)
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro)
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr) rs1559052973
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=) rs546664098
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu)
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr) rs1553509668
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys) rs1688638293
NM_000090.4(COL3A1):c.3524A>C (p.Glu1175Ala) rs2153503986
NM_000090.4(COL3A1):c.3525+3A>C rs1553509674
NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr) rs1006132401
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala)
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln) rs2153504073
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr)
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser) rs2153504076
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His)
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) rs1324996402
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val)
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser) rs1275851079
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser) rs2153504081
NM_000090.4(COL3A1):c.3592G>A (p.Gly1198Ser)
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr) rs1270244946
NM_000090.4(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946
NM_000090.4(COL3A1):c.3616G>T (p.Ala1206Ser) rs2153504088
NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg)
NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser)
NM_000090.4(COL3A1):c.3656A>G (p.Tyr1219Cys)
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His)
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly)
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys)
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu)
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn)
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu)
NM_000090.4(COL3A1):c.3756T>G (p.Asp1252Glu)
NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser) rs1447586307
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu) rs368119434
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln) rs946156674
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser) rs1194692141
NM_000090.4(COL3A1):c.3806A>G (p.His1269Arg) rs751092650
NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu) rs2153501474
NM_000090.4(COL3A1):c.3823+4T>C
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)
NM_000090.4(COL3A1):c.3839A>C (p.Asp1280Ala) rs2153504230
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala) rs759132286
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg)
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu) rs757734757
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr) rs1688690716
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys)
NM_000090.4(COL3A1):c.3885T>G (p.Asn1295Lys)
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr)
NM_000090.4(COL3A1):c.3890A>C (p.Glu1297Ala)
NM_000090.4(COL3A1):c.3907A>T (p.Ile1303Leu)
NM_000090.4(COL3A1):c.3911G>C (p.Ser1304Thr)
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser) rs1688691968
NM_000090.4(COL3A1):c.3914C>G (p.Ala1305Gly) rs1060500197
NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser) rs1060500201
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) rs886038983
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn) rs2153504249
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg) rs2153504251
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg)
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr) rs1688694132
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.4(COL3A1):c.4001G>T (p.Gly1334Val)
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys)
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His)
NM_000090.4(COL3A1):c.4015A>G (p.Ser1339Gly)
NM_000090.4(COL3A1):c.4017C>G (p.Ser1339Arg)
NM_000090.4(COL3A1):c.401C>T (p.Ser134Phe)
NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=)
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly) rs1688703417
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly)
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val) rs945183835
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile)
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln) rs1227282800
NM_000090.4(COL3A1):c.4097A>G (p.Gln1366Arg)
NM_000090.4(COL3A1):c.409C>A (p.Pro137Thr) rs1553506950
NM_000090.4(COL3A1):c.409C>T (p.Pro137Ser)
NM_000090.4(COL3A1):c.4102A>G (p.Ile1368Val) rs2153504325
NM_000090.4(COL3A1):c.4108T>C (p.Tyr1370His) rs2153504327
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val) rs1060500196
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His) rs1029608155
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn)
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu)
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys) rs768168922
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp) rs1688708521
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu) rs549672243
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.4255-1G>T rs1688728266
NM_000090.4(COL3A1):c.4255-8T>A rs2153504438
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn) rs754723643
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg) rs1688728943
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg) rs1688728943
NM_000090.4(COL3A1):c.4283T>C (p.Val1428Ala)
NM_000090.4(COL3A1):c.4290A>C (p.Glu1430Asp)
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) rs772428340
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile)
NM_000090.4(COL3A1):c.4303A>G (p.Lys1435Glu) rs2153504447
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) rs148015311
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu) rs1553510005
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn) rs1553510008
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu)
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg) rs1688731786
NM_000090.4(COL3A1):c.436A>G (p.Thr146Ala)
NM_000090.4(COL3A1):c.4370G>A (p.Gly1457Asp) rs1688732362
NM_000090.4(COL3A1):c.4373T>G (p.Val1458Gly)
NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val) rs1576474944
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser) rs1553510018
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu)
NM_000090.4(COL3A1):c.447+14G>A
NM_000090.4(COL3A1):c.447G>A (p.Gln149=)
NM_000090.4(COL3A1):c.469T>A (p.Ser157Thr) rs1576461726
NM_000090.4(COL3A1):c.473A>G (p.Tyr158Cys) rs2153501637
NM_000090.4(COL3A1):c.488G>T (p.Gly163Val)
NM_000090.4(COL3A1):c.494C>A (p.Ala165Glu)
NM_000090.4(COL3A1):c.495A>G (p.Ala165=) rs2153501641
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del) rs1688079577
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys)
NM_000090.4(COL3A1):c.529-10C>A rs2153501731
NM_000090.4(COL3A1):c.529-5T>G rs886055329
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser)
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu) rs746628029
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala) rs1688100904
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr)
NM_000090.4(COL3A1):c.582+6dup
NM_000090.4(COL3A1):c.583-4C>G
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val) rs1342128671
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser) rs1688112134
NM_000090.4(COL3A1):c.624A>G (p.Gln208=) rs527415370
NM_000090.4(COL3A1):c.625G>A (p.Ala209Thr) rs1688112510
NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn)
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu)
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr)
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr)
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala) rs1325737333
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser)
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu)
NM_000090.4(COL3A1):c.691-27_691-8del
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg) rs1688155159
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu)
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly) rs1333421028
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu)
NM_000090.4(COL3A1):c.745-3T>C
NM_000090.4(COL3A1):c.745-3T>G
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg) rs748787122
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu)
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu)
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.79+2_79+3dup rs1687768135
NM_000090.4(COL3A1):c.79+4A>G
NM_000090.4(COL3A1):c.798+4A>C
NM_000090.4(COL3A1):c.798+6T>C
NM_000090.4(COL3A1):c.799-6del rs767927599
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser)
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn)
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
NM_000090.4(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.4(COL3A1):c.852+3A>G
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu)
NM_000090.4(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.4(COL3A1):c.895A>G (p.Met299Val)
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser)
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser) rs1204385773
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000090.4(COL3A1):c.948T>A (p.Ala316=) rs1688194214
NM_000090.4(COL3A1):c.951+7A>G
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln) rs778179067
NM_000090.4(COL3A1):c.962_963insAAATGACGGTGCTCGAGG (p.Gly327_Ser328insAsnAspGlyAlaArgGly)
NM_000090.4(COL3A1):c.977G>A (p.Arg326Gln)
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
NM_000093.5(COL5A1):c.*1047_*1049dup rs886063686
NM_000093.5(COL5A1):c.*173C>T rs886063680
NM_000093.5(COL5A1):c.*1849ACAA[3] rs886063691
NM_000093.5(COL5A1):c.*2252T>C rs529530286
NM_000093.5(COL5A1):c.*235C>T rs886063681
NM_000093.5(COL5A1):c.*700G>C rs750272409
NM_000093.5(COL5A1):c.*727dup rs1554727609
NM_000093.5(COL5A1):c.*865dup rs57599653
NM_000093.5(COL5A1):c.*866_*867insTAG rs886063684
NM_000093.5(COL5A1):c.*867_*868insATAGG rs1554727637
NM_000093.5(COL5A1):c.-276AGG[7] rs886063671
NM_000093.5(COL5A1):c.-287G>C rs886063670
NM_000093.5(COL5A1):c.-357G>T rs886063669
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu) rs1834832160
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn) rs1834835178
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
NM_000093.5(COL5A1):c.1077G>C (p.Glu359Asp)
NM_000093.5(COL5A1):c.1078G>A (p.Gly360Arg)
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg) rs761227399
NM_000093.5(COL5A1):c.110-3C>G rs1554780148
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu) rs1834838212
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser) rs1834838821
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His) rs868555520
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
NM_000093.5(COL5A1):c.1165-2_1169dup rs2132641901
NM_000093.5(COL5A1):c.1165-4G>T rs1834877909
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
NM_000093.5(COL5A1):c.1197C>G (p.Asp399Glu)
NM_000093.5(COL5A1):c.1201G>C (p.Glu401Gln)
NM_000093.5(COL5A1):c.1204G>T (p.Gly402Trp)
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly)
NM_000093.5(COL5A1):c.122A>G (p.Asp41Gly)
NM_000093.5(COL5A1):c.1239C>G (p.Asp413Glu) rs775974461
NM_000093.5(COL5A1):c.1239_1241del (p.Asp413del) rs2132642108
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1]) rs745934765
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3]) rs745934765
NM_000093.5(COL5A1):c.1266C>G (p.Asp422Glu)
NM_000093.5(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
NM_000093.5(COL5A1):c.1287G>T (p.Glu429Asp) rs2132642256
NM_000093.5(COL5A1):c.128T>G (p.Leu43Arg) rs2132550843
NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala) rs2132642300
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
NM_000093.5(COL5A1):c.1332+3G>A
NM_000093.5(COL5A1):c.1332+5G>A rs1564417882
NM_000093.5(COL5A1):c.1333-19T>A rs2132643213
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC rs1588481731
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
NM_000093.5(COL5A1):c.1384G>C (p.Glu462Gln) rs761770226
NM_000093.5(COL5A1):c.1387C>G (p.Pro463Ala)
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser) rs368168386
NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu)
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.5(COL5A1):c.1429G>T (p.Ala477Ser) rs774936702
NM_000093.5(COL5A1):c.1431+5G>C rs1835185397
NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser)
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.1435C>T (p.Leu479Phe)
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg) rs1835194865
NM_000093.5(COL5A1):c.1442G>T (p.Gly481Val) rs1588488587
NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile)
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg) rs2132655977
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
NM_000093.5(COL5A1):c.1495-7T>A rs1835738568
NM_000093.5(COL5A1):c.1522G>A (p.Gly508Arg)
NM_000093.5(COL5A1):c.1537C>T (p.Pro513Ser)
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu) rs1449896543
NM_000093.5(COL5A1):c.1553C>T (p.Thr518Ile)
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr) rs202069285
NM_000093.5(COL5A1):c.1569+15_1569+16inv
NM_000093.5(COL5A1):c.1569+6T>C rs1588502477
NM_000093.5(COL5A1):c.162A>T (p.Gly54=) rs764431997
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val) rs767143136
NM_000093.5(COL5A1):c.1662+6T>C
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
NM_000093.5(COL5A1):c.1703G>T (p.Gly568Val)
NM_000093.5(COL5A1):c.1720-3T>C rs960627780
NM_000093.5(COL5A1):c.1724C>T (p.Pro575Leu) rs1192447986
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly) rs1554792869
NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln)
NM_000093.5(COL5A1):c.1810G>A (p.Gly604Arg)
NM_000093.5(COL5A1):c.1816C>T (p.Pro606Ser) rs1588506358
NM_000093.5(COL5A1):c.1819G>A (p.Gly607Arg)
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
NM_000093.5(COL5A1):c.1830T>C (p.Gly610=) rs886063675
NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val) rs1588508705
NM_000093.5(COL5A1):c.1881+3A>G
NM_000093.5(COL5A1):c.1881+4G>A
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly) rs2132698898
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr) rs1836060732
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu) rs150890005
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro) rs146074704
NM_000093.5(COL5A1):c.1989+5G>C
NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser) rs774093862
NM_000093.5(COL5A1):c.198A>G (p.Arg66=) rs1463204835
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln) rs764603796
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys) rs1564445192
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
NM_000093.5(COL5A1):c.2088+4dup rs1836638328
NM_000093.5(COL5A1):c.2088+5G>T
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu)
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
NM_000093.5(COL5A1):c.2187+4A>G rs919497204
NM_000093.5(COL5A1):c.2187+6T>C rs1836698236
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr) rs2132729311
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
NM_000093.5(COL5A1):c.2232+4G>C rs1060502257
NM_000093.5(COL5A1):c.2262A>T (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2266C>T (p.Pro756Ser)
NM_000093.5(COL5A1):c.2275G>C (p.Asp759His)
NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr)
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.5(COL5A1):c.2318A>T (p.Glu773Val) rs759963647
NM_000093.5(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.5(COL5A1):c.2331+3G>C
NM_000093.5(COL5A1):c.2331+4G>C rs1588532335
NM_000093.5(COL5A1):c.2331+4_2331+5dup
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=) rs1588532322
NM_000093.5(COL5A1):c.2332-5T>G rs2132747878
NM_000093.5(COL5A1):c.2332-9T>A
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
NM_000093.5(COL5A1):c.2375G>A (p.Arg792Gln)
NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu) rs2132748056
NM_000093.5(COL5A1):c.2385+3G>A
NM_000093.5(COL5A1):c.2386-8C>A rs1588539610
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
NM_000093.5(COL5A1):c.2430+5G>T
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.5(COL5A1):c.2437G>T (p.Asp813Tyr) rs1837306111
NM_000093.5(COL5A1):c.246G>T (p.Gln82His) rs777607116
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp)
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del) rs2132551178
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
NM_000093.5(COL5A1):c.2646+16del rs1837447151
NM_000093.5(COL5A1):c.2647-3C>G rs746511717
NM_000093.5(COL5A1):c.2647-3C>T
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
NM_000093.5(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.5(COL5A1):c.2670T>G (p.Phe890Leu)
NM_000093.5(COL5A1):c.2674_2675delinsCT (p.Gly892Leu) rs2132784450
NM_000093.5(COL5A1):c.2693G>T (p.Gly898Val) rs910417046
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2705C>T (p.Thr902Ile) rs1239938844
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn) rs533217850
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln) rs1437668038
NM_000093.5(COL5A1):c.277+6T>C
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly) rs41306397
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp) rs1030105888
NM_000093.5(COL5A1):c.2844+3A>G rs2132806641
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=) rs1421835224
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His) rs1588560410
NM_000093.5(COL5A1):c.2857C>T (p.Pro953Ser) rs773946732
NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile)
NM_000093.5(COL5A1):c.2891G>T (p.Gly964Val)
NM_000093.5(COL5A1):c.2893C>T (p.Pro965Ser) rs755051823
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
NM_000093.5(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_000093.5(COL5A1):c.2950A>T (p.Thr984Ser) rs1837995693
NM_000093.5(COL5A1):c.2952T>C (p.Thr984=)
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly) rs2132569560
NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu)
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) rs774351619
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.2992G>C (p.Val998Leu) rs776676564
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser) rs765082093
NM_000093.5(COL5A1):c.3006+5G>A
NM_000093.5(COL5A1):c.3007-14G>A rs1838163235
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro) rs1554781476
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr) rs1838166559
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
NM_000093.5(COL5A1):c.3086C>A (p.Pro1029Gln) rs768531108
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del) rs863223476
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val) rs2132827065
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_000093.5(COL5A1):c.3185G>C (p.Arg1062Pro) rs771807198
NM_000093.5(COL5A1):c.3185G>T (p.Arg1062Leu) rs771807198
NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu) rs2132827329
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser) rs1838247641
NM_000093.5(COL5A1):c.3205-20A>G rs1198283460
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val) rs2132827686
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu)
NM_000093.5(COL5A1):c.3290C>T (p.Ala1097Val)
NM_000093.5(COL5A1):c.3292G>T (p.Ala1098Ser)
NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser) rs1838292124
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys) rs1838292501
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser) rs1204892518
NM_000093.5(COL5A1):c.3337C>T (p.Pro1113Ser) rs1342258419
NM_000093.5(COL5A1):c.3344C>A (p.Pro1115Gln) rs139039658
NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)
NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu)
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys) rs1838417062
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_000093.5(COL5A1):c.3412G>T (p.Gly1138Trp) rs2132838695
NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
NM_000093.5(COL5A1):c.3474+5G>A
NM_000093.5(COL5A1):c.3474+6G>A
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu) rs1838466921
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3509A>G (p.Lys1170Arg) rs2132841141
NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg) rs2132841157
NM_000093.5(COL5A1):c.3528+4_3528+7dup
NM_000093.5(COL5A1):c.3528+5G>A
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
NM_000093.5(COL5A1):c.3577C>A (p.Pro1193Thr) rs531886361
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu) rs2132844501
NM_000093.5(COL5A1):c.3583-33_3583-15del
NM_000093.5(COL5A1):c.3583-7C>G rs1330304599
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu) rs995895784
NM_000093.5(COL5A1):c.3607C>T (p.Arg1203Trp)
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln) rs1838524385
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=) rs369518896
NM_000093.5(COL5A1):c.3617A>G (p.Gln1206Arg) rs1838524740
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu) rs748000980
NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser)
NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys) rs2132845104
NM_000093.5(COL5A1):c.364G>C (p.Glu122Gln) rs1588448757
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.5(COL5A1):c.3662C>T (p.Pro1221Leu)
NM_000093.5(COL5A1):c.3667C>T (p.Pro1223Ser) rs1411675246
NM_000093.5(COL5A1):c.3690+2dup rs2132845264
NM_000093.5(COL5A1):c.3691-3C>A
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val) rs767843442
NM_000093.5(COL5A1):c.3744+6T>A
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala) rs533597740
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser) rs1833612402
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser) rs1554805125
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_000093.5(COL5A1):c.3827G>T (p.Gly1276Val) rs2132848301
NM_000093.5(COL5A1):c.384del (p.Ile128fs) rs1833612720
NM_000093.5(COL5A1):c.3852+4A>T
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg) rs2132569874
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
NM_000093.5(COL5A1):c.386G>A (p.Gly129Glu) rs1833612785
NM_000093.5(COL5A1):c.3873T>C (p.Gly1291=)
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) rs1319735007
NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu)
NM_000093.5(COL5A1):c.388C>G (p.Leu130Val)
NM_000093.5(COL5A1):c.3899G>C (p.Gly1300Ala)
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg) rs201920777
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.5(COL5A1):c.3906+8A>G
NM_000093.5(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.5(COL5A1):c.3916G>A (p.Gly1306Arg) rs1588581652
NM_000093.5(COL5A1):c.3928G>A (p.Glu1310Lys)
NM_000093.5(COL5A1):c.3941C>T (p.Ser1314Leu) rs2132853691
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3953G>T (p.Gly1318Val)
NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser)
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser) rs1462221629
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser) rs759198874
NM_000093.5(COL5A1):c.4014+4del rs2132854046
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4039C>G (p.Pro1347Ala)
NM_000093.5(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.5(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu) rs1255890421
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu) rs2132855475
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser) rs2132856128
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe) rs145757313
NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys)
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=) rs1588583076
NM_000093.5(COL5A1):c.4122+1_4122+42dup rs2132856269
NM_000093.5(COL5A1):c.4122+4A>C
NM_000093.5(COL5A1):c.4122+4A>G
NM_000093.5(COL5A1):c.4132G>T (p.Gly1378Cys)
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.5(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.5(COL5A1):c.4150G>C (p.Gly1384Arg) rs2132858757
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup) rs2132861348
NM_000093.5(COL5A1):c.4189C>T (p.Pro1397Ser) rs1838819571
NM_000093.5(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.5(COL5A1):c.4230+5C>A
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
NM_000093.5(COL5A1):c.4231-3C>T
NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_000093.5(COL5A1):c.423G>A (p.Glu141=) rs2132569993
NM_000093.5(COL5A1):c.4245G>C (p.Leu1415Phe)
NM_000093.5(COL5A1):c.4255C>T (p.Pro1419Ser)
NM_000093.5(COL5A1):c.4256C>T (p.Pro1419Leu) rs2132864006
NM_000093.5(COL5A1):c.4259G>A (p.Gly1420Glu)
NM_000093.5(COL5A1):c.4262A>T (p.Lys1421Met) rs1838864887
NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_000093.5(COL5A1):c.4338+5G>A rs1352729728
NM_000093.5(COL5A1):c.4339-3C>G rs545993723
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=) rs1300586902
NM_000093.5(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.5(COL5A1):c.4351C>T (p.Leu1451Phe)
NM_000093.5(COL5A1):c.4358G>T (p.Gly1453Val) rs1588587440
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=) rs1213186421
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
NM_000093.5(COL5A1):c.4392+6_4392+24dup
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
NM_000093.5(COL5A1):c.441T>C (p.Pro147=) rs1833615155
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser) rs1462918582
NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly) rs1588589560
NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser) rs1489565447
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
NM_000093.5(COL5A1):c.4554+6T>C
NM_000093.5(COL5A1):c.4555-6T>G rs1588592849
NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del)
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His) rs1378626783
NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=) rs770238710
NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser) rs1839028504
NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg) rs2132877751
NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)
NM_000093.5(COL5A1):c.4644+4A>G rs1478447420
NM_000093.5(COL5A1):c.4645-10_4645-7del rs2132879221
NM_000093.5(COL5A1):c.4645-4C>G rs747264682
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser) rs863223460
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser) rs1172057382
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
NM_000093.5(COL5A1):c.4698+6T>G
NM_000093.5(COL5A1):c.4699-3C>G rs746861627
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) rs1318402758
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) rs149212775
NM_000093.5(COL5A1):c.4805_4813del (p.Val1602_Tyr1604del) rs752240390
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
NM_000093.5(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)
NM_000093.5(COL5A1):c.4897C>G (p.Gln1633Glu) rs1588598244
NM_000093.5(COL5A1):c.491+3A>C rs1554781526
NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr) rs2132884669
NM_000093.5(COL5A1):c.4954+4A>G rs1564487377
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp) rs1206652736
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu) rs1839242243
NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala)
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly)
NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr)
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe) rs1554808357
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg) rs368448060
NM_000093.5(COL5A1):c.5026G>T (p.Gly1676Trp) rs368448060
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys) rs1554808365
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe) rs1588599870
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg) rs1839245619
NM_000093.5(COL5A1):c.5066G>T (p.Gly1689Val)
NM_000093.5(COL5A1):c.5067+4A>G rs2132887922
NM_000093.5(COL5A1):c.5067+5G>A
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe) rs1564183635
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup) rs1444295577
NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe)
NM_000093.5(COL5A1):c.5110T>C (p.Phe1704Leu)
NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=)
NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=) rs147434147
NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr) rs1839797107
NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met) rs972629744
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser)
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly) rs1839802608
NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val)
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His) rs2132925845
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp) rs1588615582
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)
NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp) rs2132926010
NM_000093.5(COL5A1):c.5310C>G (p.Asn1770Lys) rs764817290
NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly)
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.5(COL5A1):c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn) rs2132926191
NM_000093.5(COL5A1):c.5345T>A (p.Ile1782Asn) rs1403819684
NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro)
NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly)
NM_000093.5(COL5A1):c.5371-12C>T rs769740900
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser) rs755260686
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser) rs554332661
NM_000093.5(COL5A1):c.5414C>A (p.Pro1805His) rs377563294
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu) rs1830127605
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu) rs1588621758
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr)
NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys)
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln)
NM_000093.5(COL5A1):c.547_576dup (p.Asp192_Arg193insCysLysLysLysThrThrLysPheLeuAsp)
NM_000093.5(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.5(COL5A1):c.5491G>A (p.Val1831Met)
NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg)
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala)
NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu) rs1365787866
NM_000093.5(COL5A1):c.592A>G (p.Met198Val) rs1833664488
NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp)
NM_000093.5(COL5A1):c.613A>G (p.Ile205Val) rs1833666024
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys) rs763107415
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del)
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.707A>G (p.Tyr236Cys) rs2132632715
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr) rs1588475947
NM_000093.5(COL5A1):c.716A>G (p.His239Arg)
NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln)
NM_000093.5(COL5A1):c.722G>A (p.Ser241Asn)
NM_000093.5(COL5A1):c.729C>G (p.Asp243Glu) rs1834700553
NM_000093.5(COL5A1):c.730T>C (p.Cys244Arg)
NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser)
NM_000093.5(COL5A1):c.741A>G (p.Ala247=) rs1300981240
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg) rs1831316736
NM_000093.5(COL5A1):c.786+135A>G rs2132633168
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe) rs1383699147
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser) rs1834748686
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys) rs1834748686
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp) rs1834749472
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu) rs1588477287
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala) rs754640324
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser) rs754640324
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.5(COL5A1):c.924+8C>G rs2132635461
NM_000093.5(COL5A1):c.925-11T>G
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln) rs1410664123
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*461G>T rs1271843257
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr) rs2100756894
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe) rs749210400
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly) rs998178222
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser) rs760764359
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu) rs2100757756
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro) rs1569721294
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala) rs1645800221
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe) rs1445338657
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys) rs1264798278
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val) rs1645803161
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro) rs2100758364
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val) rs2100758386
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser) rs1490187110
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg) rs1156431423
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-14C>T rs2100759144
NM_000302.4(PLOD1):c.1471-9C>A rs376476977
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn) rs1283020139
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly) rs2100759169
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile) rs750942824
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys) rs1645810603
NM_000302.4(PLOD1):c.1511_1513del (p.His504del) rs2100759209
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu) rs1429074293
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys) rs758701213
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser) rs1324129456
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe) rs377325169
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys) rs761949919
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val) rs753862253
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr) rs1645823972
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp) rs1331435501
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
NM_000302.4(PLOD1):c.1756-13C>A
NM_000302.4(PLOD1):c.1756-20T>G rs1310114003
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro) rs2100764621
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala) rs138106022
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln) rs768638113
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met) rs760314787
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala) rs920188548
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp) rs1645857603
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys) rs752084194
NM_000302.4(PLOD1):c.1902+3G>A rs1645857795
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp) rs1281801241
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys) rs1010336383
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser) rs2100768765
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val) rs1553137685
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn) rs1645891475
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His) rs1645892067
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu) rs2100743367
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val) rs2100743381
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser) rs781689639
NM_000302.4(PLOD1):c.2164del (p.Val722fs) rs1645892679
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu) rs151247380
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val) rs1034357016
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val) rs1348207190
NM_000302.4(PLOD1):c.262C>G (p.His88Asp) rs1645686634
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
NM_000302.4(PLOD1):c.302+3_302+6del rs2100743549
NM_000302.4(PLOD1):c.302+5G>C rs749607584
NM_000302.4(PLOD1):c.303-5C>T rs1645690340
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315_317del (p.Phe106del) rs770511543
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu) rs549517196
NM_000302.4(PLOD1):c.331C>A (p.Arg111=) rs772221158
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys) rs1645691095
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
NM_000302.4(PLOD1):c.369G>C (p.Gln123His) rs1645691361
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile) rs984869224
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu) rs144702307
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
NM_000302.4(PLOD1):c.466+65C>A
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly) rs1569694008
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn) rs188165334
NM_000302.4(PLOD1):c.535G>C (p.Asp179His) rs188165334
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg) rs2100746537
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp) rs1645711960
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg) rs375416784
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+3A>C rs1645712158
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu) rs1645566854
NM_000302.4(PLOD1):c.644-19T>C
NM_000302.4(PLOD1):c.652G>A (p.Val218Met) rs372534520
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro) rs1392799816
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn) rs1645742510
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu) rs1438879558
NM_000302.4(PLOD1):c.723T>G (p.His241Gln) rs2100750549
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala) rs774044489
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val) rs2100751390
NM_000302.4(PLOD1):c.77-3403T>C rs1645637106
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn) rs2100751465
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser) rs2100741705
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys) rs1267512667
NM_000302.4(PLOD1):c.844-3C>G rs2100752095
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp) rs1394486748
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu) rs143114026
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) rs1645756307
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
NM_000302.4(PLOD1):c.951C>G (p.His317Gln) rs770032875
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.976-3C>T rs1198690797
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.976-7_976-2dup
NM_000393.5(COL5A2):c.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*694TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.1005+5G>T rs752557532
NM_000393.5(COL5A2):c.1006-9C>G rs73978832
NM_000393.5(COL5A2):c.1010C>A (p.Pro337Gln) rs766349082
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
NM_000393.5(COL5A2):c.1045C>T (p.Pro349Ser)
NM_000393.5(COL5A2):c.1059+6T>C
NM_000393.5(COL5A2):c.1065A>C (p.Gln355His)
NM_000393.5(COL5A2):c.1070G>A (p.Gly357Asp)
NM_000393.5(COL5A2):c.1102A>C (p.Met368Leu) rs776312058
NM_000393.5(COL5A2):c.1106G>C (p.Gly369Ala)
NM_000393.5(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.5(COL5A2):c.1126T>C (p.Ser376Pro)
NM_000393.5(COL5A2):c.1139C>T (p.Pro380Leu) rs1576507871
NM_000393.5(COL5A2):c.1158+3A>G
NM_000393.5(COL5A2):c.1158G>A (p.Lys386=) rs2105613322
NM_000393.5(COL5A2):c.1171C>T (p.Pro391Ser) rs2105605678
NM_000393.5(COL5A2):c.1171_1172delinsGT (p.Pro391Val)
NM_000393.5(COL5A2):c.1175C>T (p.Thr392Ile) rs1553515880
NM_000393.5(COL5A2):c.118G>A (p.Ala40Thr) rs1559108874
NM_000393.5(COL5A2):c.1198C>G (p.Pro400Ala)
NM_000393.5(COL5A2):c.119C>T (p.Ala40Val) rs758092388
NM_000393.5(COL5A2):c.1205G>A (p.Gly402Glu)
NM_000393.5(COL5A2):c.1210A>G (p.Arg404Gly) rs1686209467
NM_000393.5(COL5A2):c.1217A>T (p.Glu406Val)
NM_000393.5(COL5A2):c.1229C>T (p.Pro410Leu)
NM_000393.5(COL5A2):c.1238T>C (p.Val413Ala) rs1430271322
NM_000393.5(COL5A2):c.1244C>T (p.Ser415Phe)
NM_000393.5(COL5A2):c.1246C>T (p.Pro416Ser) rs1412825331
NM_000393.5(COL5A2):c.1255C>T (p.Pro419Ser) rs1245178744
NM_000393.5(COL5A2):c.1261G>T (p.Ala421Ser)
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
NM_000393.5(COL5A2):c.1301C>A (p.Thr434Lys) rs145850743
NM_000393.5(COL5A2):c.1303G>A (p.Gly435Ser)
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
NM_000393.5(COL5A2):c.1310_1311inv (p.Pro437Leu)
NM_000393.5(COL5A2):c.131A>C (p.Asn44Thr)
NM_000393.5(COL5A2):c.1324C>T (p.Pro442Ser) rs1008978987
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del) rs1686191596
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.1360C>T (p.Pro454Ser) rs1686191057
NM_000393.5(COL5A2):c.1361C>T (p.Pro454Leu)
NM_000393.5(COL5A2):c.1369A>G (p.Ser457Gly) rs1686190878
NM_000393.5(COL5A2):c.136C>G (p.Gln46Glu)
NM_000393.5(COL5A2):c.1372A>T (p.Thr458Ser)
NM_000393.5(COL5A2):c.1379C>T (p.Pro460Leu) rs2105603424
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1402-3C>T
NM_000393.5(COL5A2):c.1406A>G (p.Asp469Gly) rs1553515681
NM_000393.5(COL5A2):c.1414G>A (p.Val472Ile)
NM_000393.5(COL5A2):c.1442C>T (p.Pro481Leu)
NM_000393.5(COL5A2):c.1451A>C (p.Glu484Ala)
NM_000393.5(COL5A2):c.1453C>A (p.Pro485Thr)
NM_000393.5(COL5A2):c.1453C>G (p.Pro485Ala)
NM_000393.5(COL5A2):c.1455+6del rs763475800
NM_000393.5(COL5A2):c.1456-3C>G
NM_000393.5(COL5A2):c.1456G>A (p.Gly486Arg)
NM_000393.5(COL5A2):c.1463A>C (p.His488Pro) rs149305351
NM_000393.5(COL5A2):c.1466G>A (p.Gly489Asp)
NM_000393.5(COL5A2):c.1487C>A (p.Pro496Gln)
NM_000393.5(COL5A2):c.1529G>A (p.Gly510Glu)
NM_000393.5(COL5A2):c.1541C>T (p.Pro514Leu)
NM_000393.5(COL5A2):c.1550C>T (p.Pro517Leu) rs371125581
NM_000393.5(COL5A2):c.1561A>G (p.Arg521Gly)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1580G>A (p.Arg527His) rs1260469713
NM_000393.5(COL5A2):c.1583G>A (p.Gly528Asp) rs2105595796
NM_000393.5(COL5A2):c.1613C>G (p.Pro538Arg) rs1576503605
NM_000393.5(COL5A2):c.1617G>T (p.Lys539Asn)
NM_000393.5(COL5A2):c.1621G>A (p.Ala541Thr)
NM_000393.5(COL5A2):c.162G>T (p.Trp54Cys) rs863223500
NM_000393.5(COL5A2):c.1645G>C (p.Gly549Arg) rs778171609
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His) rs149203102
NM_000393.5(COL5A2):c.1677T>A (p.Asp559Glu)
NM_000393.5(COL5A2):c.1684C>G (p.Arg562Gly)
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.1715G>C (p.Arg572Pro) rs760408439
NM_000393.5(COL5A2):c.1716+13C>T
NM_000393.5(COL5A2):c.1718G>T (p.Gly573Val)
NM_000393.5(COL5A2):c.173C>A (p.Pro58His) rs766925699
NM_000393.5(COL5A2):c.1753G>A (p.Gly585Arg) rs1686090076
NM_000393.5(COL5A2):c.1770+4A>G
NM_000393.5(COL5A2):c.1770+6T>C rs1686089547
NM_000393.5(COL5A2):c.1770G>A (p.Leu590=)
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val) rs145169816
NM_000393.5(COL5A2):c.1787A>T (p.Asp596Val) rs768939237
NM_000393.5(COL5A2):c.1792C>T (p.Arg598Cys) rs1060501906
NM_000393.5(COL5A2):c.1798_1800dup (p.Gly600_Pro601insGly)
NM_000393.5(COL5A2):c.1799G>T (p.Gly600Val) rs2105590990
NM_000393.5(COL5A2):c.17C>A (p.Ala6Glu)
NM_000393.5(COL5A2):c.1801C>A (p.Pro601Thr)
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val) rs2105590952
NM_000393.5(COL5A2):c.181A>G (p.Ile61Val)
NM_000393.5(COL5A2):c.182TCTGTG[1] (p.Val63_Cys64del) rs1687236750
NM_000393.5(COL5A2):c.1830G>T (p.Gln610His)
NM_000393.5(COL5A2):c.1831C>G (p.Pro611Ala) rs1438423994
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)
NM_000393.5(COL5A2):c.1865G>A (p.Ser622Asn)
NM_000393.5(COL5A2):c.1868G>A (p.Ser623Asn) rs2105590768
NM_000393.5(COL5A2):c.1869+3G>A
NM_000393.5(COL5A2):c.1898G>A (p.Gly633Glu)
NM_000393.5(COL5A2):c.1900A>T (p.Asn634Tyr)
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.1923G>T (p.Arg641Ser)
NM_000393.5(COL5A2):c.1924-17T>C
NM_000393.5(COL5A2):c.1945G>A (p.Glu649Lys)
NM_000393.5(COL5A2):c.1972C>T (p.Pro658Ser) rs1686065578
NM_000393.5(COL5A2):c.1973C>A (p.Pro658Gln) rs746458284
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.1978-6A>G
NM_000393.5(COL5A2):c.1979G>T (p.Gly660Val)
NM_000393.5(COL5A2):c.2031+6C>T rs1686033754
NM_000393.5(COL5A2):c.2032-3T>C
NM_000393.5(COL5A2):c.2032-3T>G
NM_000393.5(COL5A2):c.2048C>T (p.Pro683Leu) rs1019506931
NM_000393.5(COL5A2):c.2062G>A (p.Glu688Lys)
NM_000393.5(COL5A2):c.2066G>C (p.Gly689Ala) rs541711311
NM_000393.5(COL5A2):c.2072A>G (p.Lys691Arg) rs142224646
NM_000393.5(COL5A2):c.2092C>A (p.Pro698Thr) rs146005731
NM_000393.5(COL5A2):c.2107G>A (p.Ala703Thr)
NM_000393.5(COL5A2):c.2129G>C (p.Arg710Thr)
NM_000393.5(COL5A2):c.212G>C (p.Cys71Ser)
NM_000393.5(COL5A2):c.2140G>A (p.Gly714Arg)
NM_000393.5(COL5A2):c.2168G>A (p.Gly723Glu) rs1553514920
NM_000393.5(COL5A2):c.2210delinsGTCC (p.His737delinsArgPro) rs1559083259
NM_000393.5(COL5A2):c.2234G>T (p.Ser745Ile) rs2105575470
NM_000393.5(COL5A2):c.2261A>G (p.Asp754Gly)
NM_000393.5(COL5A2):c.227G>A (p.Cys76Tyr)
NM_000393.5(COL5A2):c.2281C>G (p.Gln761Glu)
NM_000393.5(COL5A2):c.2295A>G (p.Gly765=)
NM_000393.5(COL5A2):c.2311G>A (p.Gly771Arg) rs1357408674
NM_000393.5(COL5A2):c.2335A>G (p.Arg779Gly) rs1032000194
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2345T>A (p.Ile782Lys) rs1198104925
NM_000393.5(COL5A2):c.235G>A (p.Val79Met)
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
NM_000393.5(COL5A2):c.2389A>G (p.Arg797Gly) rs2105573986
NM_000393.5(COL5A2):c.2393G>T (p.Gly798Val)
NM_000393.5(COL5A2):c.2404C>A (p.Pro802Thr)
NM_000393.5(COL5A2):c.241G>A (p.Asp81Asn)
NM_000393.5(COL5A2):c.2429G>T (p.Gly810Val)
NM_000393.5(COL5A2):c.2431C>A (p.Pro811Thr)
NM_000393.5(COL5A2):c.2434A>C (p.Thr812Pro)
NM_000393.5(COL5A2):c.2446-13A>G
NM_000393.5(COL5A2):c.2446-35_2446-9del rs2105566377
NM_000393.5(COL5A2):c.2462G>A (p.Arg821Gln)
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2499+6T>G
NM_000393.5(COL5A2):c.2507G>A (p.Arg836Gln) rs751683516
NM_000393.5(COL5A2):c.2512G>A (p.Glu838Lys)
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)
NM_000393.5(COL5A2):c.2545G>A (p.Gly849Arg) rs368239207
NM_000393.5(COL5A2):c.2549C>G (p.Pro850Arg)
NM_000393.5(COL5A2):c.2553+5A>T rs371072906
NM_000393.5(COL5A2):c.2562C>A (p.Asp854Glu) rs148430780
NM_000393.5(COL5A2):c.256G>A (p.Val86Ile) rs1387694873
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu) rs938162476
NM_000393.5(COL5A2):c.2584G>A (p.Glu862Lys) rs1685823479
NM_000393.5(COL5A2):c.2587C>A (p.Pro863Thr)
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719
NM_000393.5(COL5A2):c.259A>C (p.Thr87Pro) rs1687234505
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000393.5(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.5(COL5A2):c.2641G>T (p.Ala881Ser) rs760858324
NM_000393.5(COL5A2):c.2642C>T (p.Ala881Val) rs1685821871
NM_000393.5(COL5A2):c.2650C>A (p.Pro884Thr)
NM_000393.5(COL5A2):c.2653G>A (p.Gly885Ser)
NM_000393.5(COL5A2):c.2661+17_2661+20delinsCTTGAGTCAAGTTAA
NM_000393.5(COL5A2):c.2661T>C (p.His887=)
NM_000393.5(COL5A2):c.2668A>G (p.Asn890Asp)
NM_000393.5(COL5A2):c.2680G>C (p.Gly894Arg) rs2105563064
NM_000393.5(COL5A2):c.2711C>A (p.Pro904Gln)
NM_000393.5(COL5A2):c.2762G>C (p.Gly921Ala) rs150206569
NM_000393.5(COL5A2):c.2764C>G (p.Pro922Ala) rs1349278394
NM_000393.5(COL5A2):c.2780G>C (p.Gly927Ala)
NM_000393.5(COL5A2):c.2786C>A (p.Ala929Glu) rs747843876
NM_000393.5(COL5A2):c.2789G>A (p.Gly930Glu)
NM_000393.5(COL5A2):c.2789G>T (p.Gly930Val)
NM_000393.5(COL5A2):c.2806G>A (p.Gly936Arg) rs1471655044
NM_000393.5(COL5A2):c.2812G>A (p.Glu938Lys) rs2105559330
NM_000393.5(COL5A2):c.2816G>A (p.Gly939Glu)
NM_000393.5(COL5A2):c.281C>T (p.Pro94Leu)
NM_000393.5(COL5A2):c.2834G>A (p.Gly945Glu) rs868695034
NM_000393.5(COL5A2):c.2839C>G (p.Pro947Ala) rs1027615025
NM_000393.5(COL5A2):c.2851G>A (p.Gly951Arg)
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.2872C>T (p.Pro958Ser) rs957007431
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
NM_000393.5(COL5A2):c.2885C>T (p.Pro962Leu)
NM_000393.5(COL5A2):c.289T>A (p.Ser97Thr)
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr) rs1457897938
NM_000393.5(COL5A2):c.2900A>T (p.Asp967Val)
NM_000393.5(COL5A2):c.2903A>G (p.Lys968Arg)
NM_000393.5(COL5A2):c.2929C>T (p.Pro977Ser) rs1576494351
NM_000393.5(COL5A2):c.2931+5G>T
NM_000393.5(COL5A2):c.2932G>C (p.Gly978Arg) rs2153508067
NM_000393.5(COL5A2):c.2941G>A (p.Gly981Ser) rs2153508066
NM_000393.5(COL5A2):c.2945C>A (p.Pro982His)
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=) rs1685766586
NM_000393.5(COL5A2):c.2970G>T (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.2980A>T (p.Ile994Phe)
NM_000393.5(COL5A2):c.2983G>C (p.Val995Leu)
NM_000393.5(COL5A2):c.3001C>G (p.Arg1001Gly)
NM_000393.5(COL5A2):c.3001C>T (p.Arg1001Cys) rs863223507
NM_000393.5(COL5A2):c.3035C>A (p.Pro1012Gln)
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.3041G>T (p.Gly1014Val)
NM_000393.5(COL5A2):c.3044C>T (p.Thr1015Ile)
NM_000393.5(COL5A2):c.3068G>T (p.Gly1023Val) rs1685736900
NM_000393.5(COL5A2):c.3084A>C (p.Lys1028Asn) rs774936724
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg) rs1685735868
NM_000393.5(COL5A2):c.3122G>A (p.Gly1041Asp)
NM_000393.5(COL5A2):c.3127G>A (p.Val1043Ile) rs1186405696
NM_000393.5(COL5A2):c.3136C>A (p.Pro1046Thr)
NM_000393.5(COL5A2):c.3143C>A (p.Pro1048Gln) rs1685734191
NM_000393.5(COL5A2):c.3147+5_3147+16del
NM_000393.5(COL5A2):c.3151C>T (p.Pro1051Ser) rs2153507740
NM_000393.5(COL5A2):c.3154G>T (p.Ala1052Ser)
NM_000393.5(COL5A2):c.3179G>C (p.Arg1060Pro)
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.31C>A (p.Leu11Ile) rs1576577162
NM_000393.5(COL5A2):c.3214G>A (p.Asp1072Asn)
NM_000393.5(COL5A2):c.3230G>A (p.Gly1077Asp)
NM_000393.5(COL5A2):c.3232C>G (p.Leu1078Val)
NM_000393.5(COL5A2):c.3248G>A (p.Gly1083Asp) rs1559076883
NM_000393.5(COL5A2):c.3260C>G (p.Thr1087Ser)
NM_000393.5(COL5A2):c.3268C>A (p.Pro1090Thr)
NM_000393.5(COL5A2):c.3278C>A (p.Ala1093Asp)
NM_000393.5(COL5A2):c.3283G>A (p.Gly1095Arg) rs1576490680
NM_000393.5(COL5A2):c.3295C>G (p.Gln1099Glu)
NM_000393.5(COL5A2):c.3309+6G>A rs775681859
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3311G>T (p.Gly1104Val) rs1167178682
NM_000393.5(COL5A2):c.3331C>T (p.Pro1111Ser) rs1685640502
NM_000393.5(COL5A2):c.3334C>A (p.Pro1112Thr)
NM_000393.5(COL5A2):c.3334C>T (p.Pro1112Ser)
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
NM_000393.5(COL5A2):c.3347G>A (p.Gly1116Glu)
NM_000393.5(COL5A2):c.336+3A>T rs762140704
NM_000393.5(COL5A2):c.3364G>A (p.Gly1122Arg)
NM_000393.5(COL5A2):c.3373G>C (p.Gly1125Arg)
NM_000393.5(COL5A2):c.3380G>A (p.Arg1127His)
NM_000393.5(COL5A2):c.3382G>T (p.Gly1128Cys)
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3394G>A (p.Asp1132Asn)
NM_000393.5(COL5A2):c.3395A>G (p.Asp1132Gly)
NM_000393.5(COL5A2):c.3399T>C (p.His1133=)
NM_000393.5(COL5A2):c.3428G>A (p.Gly1143Asp) rs1685595072
NM_000393.5(COL5A2):c.345G>C (p.Lys115Asn) rs2105690115
NM_000393.5(COL5A2):c.3466C>G (p.Pro1156Ala)
NM_000393.5(COL5A2):c.3491G>A (p.Gly1164Glu) rs863223508
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
NM_000393.5(COL5A2):c.3506C>A (p.Pro1169His) rs2153506953
NM_000393.5(COL5A2):c.3533C>A (p.Pro1178Gln) rs1060501905
NM_000393.5(COL5A2):c.3538C>T (p.Pro1180Ser)
NM_000393.5(COL5A2):c.3589G>A (p.Gly1197Arg)
NM_000393.5(COL5A2):c.3599G>T (p.Gly1200Val) rs1685564185
NM_000393.5(COL5A2):c.3601G>A (p.Val1201Ile) rs1685564109
NM_000393.5(COL5A2):c.3605G>A (p.Arg1202Gln)
NM_000393.5(COL5A2):c.3608G>A (p.Gly1203Asp) rs1576488066
NM_000393.5(COL5A2):c.3613G>T (p.Val1205Leu) rs377660244
NM_000393.5(COL5A2):c.3625G>C (p.Gly1209Arg)
NM_000393.5(COL5A2):c.3631G>A (p.Glu1211Lys)
NM_000393.5(COL5A2):c.3634-3T>C
NM_000393.5(COL5A2):c.3634G>C (p.Gly1212Arg)
NM_000393.5(COL5A2):c.3635G>A (p.Gly1212Asp)
NM_000393.5(COL5A2):c.3641C>A (p.Pro1214His)
NM_000393.5(COL5A2):c.3656C>A (p.Pro1219Gln)
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu) rs1685515304
NM_000393.5(COL5A2):c.3688A>G (p.Thr1230Ala)
NM_000393.5(COL5A2):c.3690_3691delinsCA (p.Ala1231Thr)
NM_000393.5(COL5A2):c.3694G>C (p.Ala1232Pro) rs1263127952
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.3712G>A (p.Gly1238Arg)
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr) rs145100971
NM_000393.5(COL5A2):c.3736G>A (p.Asp1246Asn)
NM_000393.5(COL5A2):c.3743T>C (p.Leu1248Pro) rs2153506518
NM_000393.5(COL5A2):c.3748G>A (p.Glu1250Lys)
NM_000393.5(COL5A2):c.3766G>A (p.Ala1256Thr)
NM_000393.5(COL5A2):c.3787A>G (p.Lys1263Glu)
NM_000393.5(COL5A2):c.379A>C (p.Ile127Leu) rs1064795177
NM_000393.5(COL5A2):c.3800G>T (p.Gly1267Val)
NM_000393.5(COL5A2):c.3802G>T (p.Val1268Phe)
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
NM_000393.5(COL5A2):c.3847C>T (p.Arg1283Cys)
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091
NM_000393.5(COL5A2):c.3878C>T (p.Ala1293Val) rs1251846979
NM_000393.5(COL5A2):c.3890A>T (p.Asp1297Val)
NM_000393.5(COL5A2):c.3926-3T>C rs1685452266
NM_000393.5(COL5A2):c.3926G>A (p.Gly1309Asp) rs863223497
NM_000393.5(COL5A2):c.3944C>T (p.Pro1315Leu)
NM_000393.5(COL5A2):c.3949C>A (p.Gln1317Lys) rs2153506166
NM_000393.5(COL5A2):c.3950A>G (p.Gln1317Arg) rs2153506165
NM_000393.5(COL5A2):c.3953G>A (p.Gly1318Glu) rs1685452114
NM_000393.5(COL5A2):c.400G>C (p.Ala134Pro)
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu) rs1685449943
NM_000393.5(COL5A2):c.4068C>A (p.Asp1356Glu) rs771590535
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr) rs1157866285
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4081T>C (p.Trp1361Arg) rs761506002
NM_000393.5(COL5A2):c.4093G>A (p.Asp1365Asn)
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000393.5(COL5A2):c.4105G>C (p.Gly1369Arg) rs767685753
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu) rs759631023
NM_000393.5(COL5A2):c.4113+3A>G rs1685448298
NM_000393.5(COL5A2):c.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr) rs1685418656
NM_000393.5(COL5A2):c.412G>A (p.Gly138Arg)
NM_000393.5(COL5A2):c.4154C>T (p.Thr1385Ile)
NM_000393.5(COL5A2):c.4161G>A (p.Met1387Ile) rs1424971937
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000393.5(COL5A2):c.4163C>T (p.Thr1388Ile) rs771415085
NM_000393.5(COL5A2):c.4172G>T (p.Arg1391Leu)
NM_000393.5(COL5A2):c.4179A>C (p.Leu1393Phe)
NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)
NM_000393.5(COL5A2):c.4185A>G (p.Lys1395=)
NM_000393.5(COL5A2):c.4187A>G (p.Glu1396Gly)
NM_000393.5(COL5A2):c.4189G>A (p.Ala1397Thr)
NM_000393.5(COL5A2):c.4207T>A (p.Tyr1403Asn)
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly) rs1685415940
NM_000393.5(COL5A2):c.4223G>T (p.Ser1408Ile)
NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)
NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)
NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly) rs141777954
NM_000393.5(COL5A2):c.429A>G (p.Arg143=) rs1488001302
NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)
NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)
NM_000393.5(COL5A2):c.437G>C (p.Arg146Pro) rs144430633
NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly) rs1685396293
NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)
NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly) rs2153505892
NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) rs775322653
NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)
NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)
NM_000393.5(COL5A2):c.456+3A>C
NM_000393.5(COL5A2):c.457-12C>T rs1387666560
NM_000393.5(COL5A2):c.470C>T (p.Pro157Leu)
NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala) rs1686807213
NM_000393.5(COL5A2):c.479T>C (p.Ile160Thr) rs1177082898
NM_000393.5(COL5A2):c.500C>A (p.Pro167His)
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.5(COL5A2):c.534T>A (p.His178Gln)
NM_000393.5(COL5A2):c.54A>C (p.Leu18Phe) rs2105831569
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.567+3G>A
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu) rs774969990
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.622G>A (p.Val208Ile) rs2105658300
NM_000393.5(COL5A2):c.635C>T (p.Pro212Leu) rs1686718032
NM_000393.5(COL5A2):c.645+5G>A
NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu) rs201941612
NM_000393.5(COL5A2):c.686A>G (p.Gln229Arg) rs1686671999
NM_000393.5(COL5A2):c.690A>G (p.Gln230=)
NM_000393.5(COL5A2):c.724C>T (p.Pro242Ser) rs2105650411
NM_000393.5(COL5A2):c.727G>C (p.Gly243Arg)
NM_000393.5(COL5A2):c.731A>C (p.Asp244Ala)
NM_000393.5(COL5A2):c.73A>C (p.Lys25Gln) rs1688743702
NM_000393.5(COL5A2):c.743T>C (p.Met248Thr) rs1686643340
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.798+6C>T
NM_000393.5(COL5A2):c.806C>G (p.Pro269Arg)
NM_000393.5(COL5A2):c.853-3C>G
NM_000393.5(COL5A2):c.860G>A (p.Arg287His)
NM_000393.5(COL5A2):c.868C>T (p.Pro290Ser)
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.889G>A (p.Gly297Ser) rs1686522348
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro) rs545574407
NM_000393.5(COL5A2):c.905G>T (p.Arg302Leu) rs545574407
NM_000393.5(COL5A2):c.917G>C (p.Gly306Ala)
NM_000393.5(COL5A2):c.926G>A (p.Gly309Asp)
NM_000393.5(COL5A2):c.928C>A (p.Pro310Thr)
NM_000393.5(COL5A2):c.955T>C (p.Ser319Pro) rs1060501908
NM_000393.5(COL5A2):c.967G>C (p.Ala323Pro) rs2105632778
NM_000393.5(COL5A2):c.98-22_98-18del
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) rs2067685860
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu) rs2067683771
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile) rs782018054
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala) rs781946233
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
NM_001110556.2(FLNA):c.5861-4C>G
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) rs1569551461
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp) rs2148103926
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001128225.3(SLC39A13):c.-9+256T>C
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met) rs1595887083
NM_001128225.3(SLC39A13):c.1010T>C (p.Leu337Pro) rs2153301868
NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)
NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=) rs1163501092
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro) rs2096021765
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu) rs777112793
NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)
NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val) rs2095991241
NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)
NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.211T>C (p.Ser71Pro) rs983983551
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del) rs2095992049
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala) rs2153291853
NM_001128225.3(SLC39A13):c.301+5G>A rs1351664483
NM_001128225.3(SLC39A13):c.302C>T (p.Ala101Val) rs2153295514
NM_001128225.3(SLC39A13):c.323A>G (p.Gln108Arg) rs1565662802
NM_001128225.3(SLC39A13):c.325C>G (p.Leu109Val) rs146848042
NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala) rs148165667
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile) rs1555136368
NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr) rs765944959
NM_001128225.3(SLC39A13):c.645+3G>A rs2153299338
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
NM_001128225.3(SLC39A13):c.72G>A (p.Leu24=) rs2153290671
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del) rs2153299658
NM_001128225.3(SLC39A13):c.786+5G>A rs1331180727
NM_001128225.3(SLC39A13):c.789G>A (p.Val263=) rs747750601
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro) rs376883075
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His) rs1468079148
NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)
NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys) rs751210151
NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)
NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)
NM_001128225.3(SLC39A13):c.919+5G>A
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)
NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)
NM_001129.5(AEBP1):c.2117A>T (p.Asn706Ile)
NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp) rs913206509
NM_001365276.1:c.(?_8144)_(9109_?)del
NM_001365276.2(TNXB):c.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu) rs1776786308
NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)
NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro) rs2151880909
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) rs200523717
NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs) rs2151879527
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) rs199953230
NM_001365276.2(TNXB):c.1327G>A (p.Gly443Arg) rs1179577875
NM_001365276.2(TNXB):c.1446G>A (p.Met482Ile) rs1378870044
NM_001365276.2(TNXB):c.1606G>T (p.Gly536Cys) rs372158274
NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg)
NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu)
NM_001365276.2(TNXB):c.1834G>T (p.Val612Leu) rs368085612
NM_001365276.2(TNXB):c.210G>A (p.Gln70=) rs2127294286
NM_001365276.2(TNXB):c.2301_2309del (p.Glu768_Thr770del)
NM_001365276.2(TNXB):c.2521G>A (p.Asp841Asn)
NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala) rs2127272436
NM_001365276.2(TNXB):c.285C>T (p.Val95=) rs2127294131
NM_001365276.2(TNXB):c.287T>A (p.Leu96His) rs1780503217
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg) rs762130701
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) rs61735731
NM_001365276.2(TNXB):c.4168C>G (p.Leu1390Val)
NM_001365276.2(TNXB):c.4220A>G (p.Lys1407Arg)
NM_001365276.2(TNXB):c.4290A>G (p.Leu1430=) rs2127248387
NM_001365276.2(TNXB):c.4831T>C (p.Tyr1611His) rs1778812721
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) rs372387718
NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln) rs778225485
NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln) rs772454700
NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu)
NM_001365276.2(TNXB):c.5585C>T (p.Thr1862Ile) rs2151915881
NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr) rs1030656217
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) rs1778570345
NM_001365276.2(TNXB):c.5902+9T>C rs1159883762
NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)
NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys) rs1554321787
NM_001365276.2(TNXB):c.6378C>T (p.Thr2126=) rs536003119
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.706C>T (p.Arg236Trp) rs763079484
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837
NM_001365276.2(TNXB):c.7534C>A (p.Pro2512Thr) rs775958640
NM_001365276.2(TNXB):c.8192C>T (p.Pro2731Leu) rs440160
NM_001365276.2(TNXB):c.8326C>T (p.Arg2776Trp)
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.861G>A (p.Arg287=) rs1406340228
NM_001365276.2(TNXB):c.8865G>A (p.Leu2955=) rs745510765
NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln) rs61729739
NM_001365276.2(TNXB):c.9226C>T (p.Leu3076Phe)
NM_001365276.2(TNXB):c.9664G>C (p.Gly3222Arg)
NM_001365276.2(TNXB):c.9970C>T (p.Arg3324Cys) rs768943895
NM_001367624.2(ZNF469):c.*1323G>A rs780254370
NM_001367624.2(ZNF469):c.*1348G>A rs886052428
NM_001367624.2(ZNF469):c.*491T>C rs557906701
NM_001367624.2(ZNF469):c.*547G>T rs370886541
NM_001367624.2(ZNF469):c.*879T>C rs886052426
NM_001367624.2(ZNF469):c.*932A>G rs886052427
NM_001367624.2(ZNF469):c.10003C>T (p.Pro3335Ser) rs1252058328
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
NM_001367624.2(ZNF469):c.10199C>G (p.Pro3400Arg) rs281165933
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) rs281165933
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10326G>T (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly) rs1429918039
NM_001367624.2(ZNF469):c.10480C>G (p.Arg3494Gly) rs921811959
NM_001367624.2(ZNF469):c.10539G>A (p.Ser3513=) rs759998900
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=) rs763317477
NM_001367624.2(ZNF469):c.1065C>A (p.Leu355=) rs748505843
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
NM_001367624.2(ZNF469):c.10929A>C (p.Leu3643=) rs1906756953
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn) rs967698954
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=) rs886052419
NM_001367624.2(ZNF469):c.11482A>C (p.Ser3828Arg) rs1293536070
NM_001367624.2(ZNF469):c.11529G>C (p.Lys3843Asn) rs1567517914
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly) rs886052420
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg) rs529322092
NM_001367624.2(ZNF469):c.11715C>G (p.Pro3905=) rs969384437
NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro) rs1555520642
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile) rs766057875
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001367624.2(ZNF469):c.1477C>G (p.Pro493Ala) rs2142299586
NM_001367624.2(ZNF469):c.1483C>G (p.Pro495Ala) rs202205643
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.2(ZNF469):c.1708G>C (p.Val570Leu) rs1905933453
NM_001367624.2(ZNF469):c.1808G>A (p.Ser603Asn) rs2142300284
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)
NM_001367624.2(ZNF469):c.2163C>T (p.Ser721=) rs538121526
NM_001367624.2(ZNF469):c.2332G>T (p.Ala778Ser) rs761152033
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del) rs886052397
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp) rs886052401
NM_001367624.2(ZNF469):c.3384G>A (p.Gln1128=) rs2142303932
NM_001367624.2(ZNF469):c.3478G>C (p.Gly1160Arg) rs1011775158
NM_001367624.2(ZNF469):c.3580C>G (p.Arg1194Gly) rs1428087312
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg) rs1597208940
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn) rs886052403
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr) rs886052404
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) rs273585620
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.4661T>C (p.Met1554Thr) rs766157054
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg) rs544832628
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5340C>T (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser) rs778548266
NM_001367624.2(ZNF469):c.567C>T (p.Ser189=) rs1309619067
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg) rs2142308428
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu) rs886052407
NM_001367624.2(ZNF469):c.6053T>C (p.Val2018Ala) rs2142308775
NM_001367624.2(ZNF469):c.6199G>C (p.Ala2067Pro) rs2142308978
NM_001367624.2(ZNF469):c.6436_6441dup (p.Gly2147_Gly2148insLeuGly) rs903153275
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) rs1215843229
NM_001367624.2(ZNF469):c.6984G>C (p.Ser2328=) rs764025593
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr) rs886052411
NM_001367624.2(ZNF469):c.8049A>G (p.Gly2683=) rs1448750061
NM_001367624.2(ZNF469):c.8081G>C (p.Arg2694Pro) rs889719149
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.2(ZNF469):c.834G>A (p.Pro278=) rs544693811
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn) rs985304000
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) rs142753357
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu) rs886052414
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=) rs886052415
NM_001367624.2(ZNF469):c.9122T>C (p.Leu3041Pro) rs1906595696
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro) rs1906626370
NM_001367624.2(ZNF469):c.9817C>T (p.Pro3273Ser) rs1906656468
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn) rs1285839120
NM_001733.7(C1R):c.203C>T (p.Ser68Phe)
NM_001733.7(C1R):c.419C>T (p.Ala140Val)
NM_001733.7(C1R):c.424+2T>C
NM_001733.7(C1R):c.450C>A (p.Ser150Arg)
NM_001733.7(C1R):c.646C>A (p.Pro216Thr) rs367700816
NM_001733.7(C1R):c.646C>G (p.Pro216Ala) rs367700816
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)
NM_001734.5(C1S):c.809T>C (p.Ile270Thr)
NM_001999.4(FBN2):c.1543T>C (p.Ser515Pro) rs528255772
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3272A>G (p.Asn1091Ser) rs2126912169
NM_001999.4(FBN2):c.3456G>C (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg) rs1554123060
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.4122T>G (p.Gly1374=) rs2126892175
NM_001999.4(FBN2):c.5801-5T>G rs571282132
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp) rs755672868
NM_001999.4(FBN2):c.595G>A (p.Val199Ile) rs1561495409
NM_001999.4(FBN2):c.6046+10T>C rs1179452976
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.7012+7G>C rs199735209
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly) rs1765463264
NM_001999.4(FBN2):c.7938C>G (p.His2646Gln) rs886038837
NM_001999.4(FBN2):c.8098T>C (p.Ser2700Pro) rs1160756542
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp) rs776788539
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_003238.6(TGFB2):c.254G>A (p.Arg85Lys) rs2102527749
NM_003238.6(TGFB2):c.988C>G (p.Leu330Val) rs2102630064
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter) rs2125410317
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser) rs1553630181
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr) rs2149467566
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met) rs2149467444
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile) rs1253680957
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln) rs2149467365
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr) rs779083996
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val) rs1032545730
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter) rs2149467117
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr) rs1325717704
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
NM_004370.6(COL12A1):c.125A>G (p.His42Arg) rs760445921
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn) rs2149466995
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val) rs2149466974
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn) rs1769466109
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu) rs1769450841
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met) rs1769449076
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val) rs2149466346
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln) rs779234808
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val) rs1769434215
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys) rs2149466133
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg) rs2149466076
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr) rs1770137078
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=) rs2149466030
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn) rs2149465941
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met) rs1769421436
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp) rs1769421051
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly) rs2149465853
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly) rs1002113974
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu) rs2149465802
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu) rs2149465788
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val) rs1344964508
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn) rs2149465694
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr) rs2149465694
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala) rs1770135564
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly) rs1356178155
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met) rs962496340
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
NM_004370.6(COL12A1):c.1891+4A>C rs148292262
NM_004370.6(COL12A1):c.1891+6T>C
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser) rs952803259
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu) rs200315815
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
NM_004370.6(COL12A1):c.1921del (p.Ser641fs) rs2149462293
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala) rs1769262393
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=) rs2149462277
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu) rs2149479257
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala) rs2149462234
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs) rs1769258754
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val) rs1769258112
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys) rs2149462161
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser) rs1769255982
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn) rs1233438359
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val) rs2149461913
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro) rs1562315490
NM_004370.6(COL12A1):c.2164+6A>G rs746467248
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr) rs1769052023
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala) rs1769051365
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr) rs750973541
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys) rs2149457038
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter) rs1034315777
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val) rs1769044982
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe) rs2149456891
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala) rs2149456824
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp) rs2149456727
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu) rs2149456708
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile) rs1769035606
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr) rs772493333
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp) rs1769033719
NM_004370.6(COL12A1):c.2437+6G>A rs1769033413
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys) rs371428645
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly) rs1768877676
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala) rs1194621615
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val) rs1489423171
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu) rs2149452205
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu) rs2149452194
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu) rs2149452186
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val) rs2149452026
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu) rs777386471
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg) rs2149451801
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp) rs1768851120
NM_004370.6(COL12A1):c.2711-5T>G
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro) rs369193482
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile) rs1768259480
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu) rs370815575
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly) rs1768252416
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del) rs1768250668
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His) rs752812483
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=) rs1768247192
NM_004370.6(COL12A1):c.2983+1G>T
NM_004370.6(COL12A1):c.2983+2T>G
NM_004370.6(COL12A1):c.2983+3A>C
NM_004370.6(COL12A1):c.2983+3del
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe) rs1582147328
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys) rs1767775935
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr) rs1767775644
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala) rs1767774122
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys) rs2149424485
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg) rs2149424441
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile) rs1767764943
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly) rs2149424377
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu) rs772210650
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter) rs868543538
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys) rs2149424189
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu) rs2149423356
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys) rs1767727217
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe) rs2149423302
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn) rs2149423269
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln) rs2149423255
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp) rs1767721141
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala) rs1272550670
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His) rs2149423214
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
NM_004370.6(COL12A1):c.334+4A>T rs1769967046
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met) rs2149423183
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp) rs1420617553
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
NM_004370.6(COL12A1):c.3444-6T>G
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro) rs1190415160
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
NM_004370.6(COL12A1):c.3565+1G>A
NM_004370.6(COL12A1):c.3566-8C>G rs201709757
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln) rs775382202
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr) rs2149417585
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
NM_004370.6(COL12A1):c.3835+3_3835+6del
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys) rs1387157172
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu) rs1489541121
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr) rs1769938135
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His) rs1769937627
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.394+3G>A
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val) rs557573017
NM_004370.6(COL12A1):c.4000+4C>T rs375772555
NM_004370.6(COL12A1):c.4001-11C>A
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val) rs2149415452
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala) rs1335085130
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn) rs913180274
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser) rs913180274
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met) rs745813975
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile) rs2149415231
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val) rs2149415217
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser) rs1268978531
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn) rs1033092764
NM_004370.6(COL12A1):c.4147+3A>G
NM_004370.6(COL12A1):c.4147+4A>T
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr) rs2149410743
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del) rs1767315080
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser) rs1767312990
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp) rs758640189
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser) rs779038394
NM_004370.6(COL12A1):c.4287+4A>T rs1767305838
NM_004370.6(COL12A1):c.4288-14A>G
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu) rs779064060
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu) rs1767273965
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr) rs1394611159
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys) rs897954123
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
NM_004370.6(COL12A1):c.4417+4A>G rs2149409130
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile) rs1767188215
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=) rs199901074
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys) rs1767180643
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
NM_004370.6(COL12A1):c.4560+8A>G
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu) rs556742432
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly) rs2149475927
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu) rs1226808307
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys) rs1767128506
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser) rs1028650601
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=) rs1767120492
NM_004370.6(COL12A1):c.4690+5G>A rs1767120188
NM_004370.6(COL12A1):c.4691-8T>A
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser) rs2149402848
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly) rs1767009455
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro) rs373006852
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
NM_004370.6(COL12A1):c.4827+3A>G
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro) rs750511139
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile) rs368180489
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser) rs773883741
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
NM_004370.6(COL12A1):c.4954_4957+2dup
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
NM_004370.6(COL12A1):c.4957+11_4957+12inv
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp) rs1766760179
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu) rs1766757762
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala) rs2149475862
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys) rs1369964113
NM_004370.6(COL12A1):c.5097+6T>A
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val) rs2149475842
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn) rs1766737229
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser) rs530680231
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
NM_004370.6(COL12A1):c.5231-9_5231-8del
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr) rs2149394273
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro) rs748487098
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu) rs1766675850
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys) rs370767331
NM_004370.6(COL12A1):c.5394+5T>G
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
NM_004370.6(COL12A1):c.5395-10T>C
NM_004370.6(COL12A1):c.5395-14C>G
NM_004370.6(COL12A1):c.5395-17G>A
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu) rs754812998
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile) rs1769824140
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly) rs775456254
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys) rs374927144
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup) rs1766496347
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val) rs2149389596
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
NM_004370.6(COL12A1):c.5525-6T>A
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys) rs1769823295
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn) rs2149475753
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu) rs377417661
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly) rs773807635
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln) rs1242897212
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys) rs1766437313
NM_004370.6(COL12A1):c.5664+3A>G rs2149387981
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser) rs2149387327
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr) rs2149387306
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser) rs1766408982
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala) rs1766405494
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val) rs2149387143
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn) rs1766404958
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser) rs2149387040
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=) rs199632288
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile) rs2149385416
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn) rs2149385355
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr) rs2149385355
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys) rs920578725
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro) rs2149385256
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del) rs1766274789
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys) rs1766270191
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu) rs1013402934
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met) rs1766265495
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg) rs569212577
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr) rs1766227819
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser) rs1253942397
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys) rs769518059
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg) rs2149475605
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met) rs1766123299
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn) rs1403624483
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg) rs1766116749
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=) rs1766115548
NM_004370.6(COL12A1):c.6341-9T>A rs1562169801
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg) rs1766019017
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu) rs1769818108
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr) rs1766015017
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu) rs1277921609
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys) rs1469571574
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
NM_004370.6(COL12A1):c.6460+6G>A
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser) rs1582089703
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr) rs920759306
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys) rs2149375589
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg) rs756215547
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+6T>C
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu) rs773548520
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu) rs761964344
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser) rs2149374223
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile) rs1257364285
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe) rs1765905733
NM_004370.6(COL12A1):c.6724+6T>C
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg) rs2149373796
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr) rs2149373719
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala) rs1765885022
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu) rs1765882595
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys) rs2149372645
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg) rs780038146
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr) rs747966606
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del) rs745810321
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu) rs1765844509
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg) rs1302398240
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu) rs1765839616
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His) rs1765722908
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr) rs1400495680
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala) rs1765717648
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile) rs1231345150
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7086+4A>G
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val) rs2149366807
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val) rs910431488
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
NM_004370.6(COL12A1):c.74-2A>T
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala) rs1769137471
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu) rs1470111741
NM_004370.6(COL12A1):c.7519+6T>C rs2149363457
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser) rs1468041100
NM_004370.6(COL12A1):c.7558+5G>A
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu) rs1769053374
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser) rs1168175119
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys) rs2149361441
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala) rs942074618
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His) rs1364305836
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His) rs1768945805
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys) rs1312651383
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val) rs375113182
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala) rs1768943469
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu) rs1428757896
NM_004370.6(COL12A1):c.7841-3C>T
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu) rs1194345062
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu) rs2149482865
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
NM_004370.6(COL12A1):c.7950+5A>T rs771300269
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe) rs1347122880
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln) rs1768709126
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His) rs1324430356
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met) rs1167733175
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His) rs2149353031
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
NM_004370.6(COL12A1):c.8100+4A>T rs2149352934
NM_004370.6(COL12A1):c.8100+5G>T
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr) rs1768551206
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004370.6(COL12A1):c.8178+6T>C
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=) rs1768547356
NM_004370.6(COL12A1):c.8179-17T>G
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg) rs1768494060
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.823+4G>A
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8266-8T>A
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr) rs1768418483
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr) rs1473515166
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val) rs1254845133
NM_004370.6(COL12A1):c.8319+5G>A
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp) rs1768363255
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu) rs1768363108
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys) rs1768362148
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser) rs1582050849
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp) rs1768358751
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp) rs1768356411
NM_004370.6(COL12A1):c.8415+2dup
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys) rs2149343509
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser) rs2149343047
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
NM_004370.6(COL12A1):c.8524-3T>G
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg) rs574147225
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=) rs1768087709
NM_004370.6(COL12A1):c.8578-6T>G
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala) rs2149333527
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=) rs1767942315
NM_004370.6(COL12A1):c.8649+6C>T rs1037107431
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=) rs900917198
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly) rs1767765917
NM_004370.6(COL12A1):c.8685+1G>A
NM_004370.6(COL12A1):c.8685+3A>G
NM_004370.6(COL12A1):c.8685+4T>C
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr) rs1319038184
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8752+5A>C
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile) rs1767695881
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly) rs1769748525
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp) rs760317754
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu) rs369768310
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln) rs1767686939
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr) rs1310755474
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr) rs1404705545
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe) rs1767642437
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys) rs1767642101
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val) rs763589676
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+2T>C
NM_004370.6(COL12A1):c.9010+4G>C rs2149325295
NM_004370.6(COL12A1):c.9010+5G>A
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile) rs1767574420
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile) rs1767573014
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro) rs1307746550
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser) rs560180665
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu) rs1767570608
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu) rs1767566470
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly) rs2149322777
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val) rs1769746949
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
NM_004370.6(COL12A1):c.9181+4C>G
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val) rs1442527803
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe) rs370040853
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn) rs1769743212
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.997+2T>C
NM_004612.4(TGFBR1):c.1071A>C (p.Arg357Ser) rs2118806030
NM_004612.4(TGFBR1):c.1125A>G (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=) rs1407167849
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) rs1360080681
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.463C>G (p.His155Asp) rs751679796
NM_004612.4(TGFBR1):c.50T>A (p.Leu17Gln) rs2118164469
NM_004612.4(TGFBR1):c.52G>T (p.Ala18Ser) rs1243596219
NM_005902.4(SMAD3):c.1065G>T (p.Ser355=) rs756181827
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe) rs2140313919
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_007255.3(B4GALT7):c.106G>A (p.Val36Met)
NM_007255.3(B4GALT7):c.128TCT[1] (p.Phe44del) rs762698149
NM_007255.3(B4GALT7):c.134C>G (p.Ser45Cys) rs747688432
NM_007255.3(B4GALT7):c.134C>T (p.Ser45Phe)
NM_007255.3(B4GALT7):c.13C>T (p.Arg5Trp) rs2127509643
NM_007255.3(B4GALT7):c.161C>G (p.Ser54Cys)
NM_007255.3(B4GALT7):c.168C>G (p.Asp56Glu) rs1309659292
NM_007255.3(B4GALT7):c.170T>C (p.Val57Ala)
NM_007255.3(B4GALT7):c.174C>G (p.Ala58=) rs2127511511
NM_007255.3(B4GALT7):c.179_413+354del
NM_007255.3(B4GALT7):c.186G>C (p.Arg62Ser)
NM_007255.3(B4GALT7):c.188G>A (p.Gly63Glu)
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
NM_007255.3(B4GALT7):c.207G>A (p.Ser69=)
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter) rs780427259
NM_007255.3(B4GALT7):c.239C>T (p.Pro80Leu)
NM_007255.3(B4GALT7):c.242_243del (p.Pro81fs)
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
NM_007255.3(B4GALT7):c.258A>T (p.Glu86Asp) rs759226446
NM_007255.3(B4GALT7):c.272_273delinsTT (p.Gly91Val) rs2127511623
NM_007255.3(B4GALT7):c.274C>T (p.Pro92Ser) rs756885469
NM_007255.3(B4GALT7):c.275C>T (p.Pro92Leu) rs778409854
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)
NM_007255.3(B4GALT7):c.316G>A (p.Glu106Lys) rs2127511686
NM_007255.3(B4GALT7):c.319G>C (p.Glu107Gln) rs1767927068
NM_007255.3(B4GALT7):c.325del (p.Leu109fs) rs2127511689
NM_007255.3(B4GALT7):c.340C>A (p.His114Asn) rs753864389
NM_007255.3(B4GALT7):c.343A>G (p.Met115Val)
NM_007255.3(B4GALT7):c.346C>G (p.Arg116Gly) rs750028904
NM_007255.3(B4GALT7):c.347G>A (p.Arg116His)
NM_007255.3(B4GALT7):c.364A>C (p.Lys122Gln) rs201281389
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007255.3(B4GALT7):c.400G>A (p.Val134Met) rs2127511771
NM_007255.3(B4GALT7):c.407A>T (p.His136Leu)
NM_007255.3(B4GALT7):c.413+3A>G
NM_007255.3(B4GALT7):c.414-2A>G
NM_007255.3(B4GALT7):c.446T>G (p.Phe149Cys) rs2127513189
NM_007255.3(B4GALT7):c.455G>C (p.Ser152Thr)
NM_007255.3(B4GALT7):c.467C>T (p.Thr156Met)
NM_007255.3(B4GALT7):c.46G>C (p.Gly16Arg) rs1391741493
NM_007255.3(B4GALT7):c.484C>T (p.His162Tyr) rs375801425
NM_007255.3(B4GALT7):c.485A>G (p.His162Arg)
NM_007255.3(B4GALT7):c.486C>G (p.His162Gln) rs370142626
NM_007255.3(B4GALT7):c.491T>C (p.Val164Ala) rs1281774679
NM_007255.3(B4GALT7):c.50+1G>A
NM_007255.3(B4GALT7):c.502_517del (p.Pro168fs) rs2127513246
NM_007255.3(B4GALT7):c.509A>G (p.Asn170Ser) rs2127513256
NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)
NM_007255.3(B4GALT7):c.520G>C (p.Asp174His)
NM_007255.3(B4GALT7):c.520G>T (p.Asp174Tyr) rs532945440
NM_007255.3(B4GALT7):c.522C>G (p.Asp174Glu)
NM_007255.3(B4GALT7):c.53C>G (p.Ser18Cys)
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg) rs149484064
NM_007255.3(B4GALT7):c.629A>C (p.His210Pro) rs752722346
NM_007255.3(B4GALT7):c.632A>T (p.Tyr211Phe) rs2127513358
NM_007255.3(B4GALT7):c.639+6G>T
NM_007255.3(B4GALT7):c.640-12T>A
NM_007255.3(B4GALT7):c.658C>A (p.Arg220Ser) rs199905021
NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) rs199905021
NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)
NM_007255.3(B4GALT7):c.688G>A (p.Glu230Lys) rs751946151
NM_007255.3(B4GALT7):c.723+3G>A
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
NM_007255.3(B4GALT7):c.751G>A (p.Gly251Arg)
NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) rs1435784513
NM_007255.3(B4GALT7):c.762_763del (p.Phe255fs)
NM_007255.3(B4GALT7):c.781C>T (p.Pro261Ser) rs1768098034
NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser) rs749515076
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn) rs1768115670
NM_007255.3(B4GALT7):c.869T>C (p.Val290Ala)
NM_007255.3(B4GALT7):c.86G>A (p.Cys29Tyr)
NM_007255.3(B4GALT7):c.881_882insTGAGGTGGATTAAACCAAACCCAGCTACGCAAAATCTTAGT (p.Val294_Ala295insGluValAspTer) rs2127514559
NM_007255.3(B4GALT7):c.889C>T (p.Arg297Cys) rs749289544
NM_007255.3(B4GALT7):c.89C>T (p.Ser30Phe) rs1433445414
NM_007255.3(B4GALT7):c.910G>A (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.910G>C (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.911G>C (p.Gly304Ala)
NM_007255.3(B4GALT7):c.926del (p.Val309fs)
NM_007255.3(B4GALT7):c.937A>G (p.Met313Val) rs1768121721
NM_007255.3(B4GALT7):c.938T>G (p.Met313Arg) rs757174910
NM_007255.3(B4GALT7):c.939G>C (p.Met313Ile) rs778439107
NM_007255.3(B4GALT7):c.941T>G (p.Leu314Trp) rs1024596270
NM_007255.3(B4GALT7):c.952A>G (p.Lys318Glu) rs2127514659
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) rs770222232
NM_007255.3(B4GALT7):c.962C>T (p.Thr321Ile) rs773712777
NM_007255.3(B4GALT7):c.967T>A (p.Trp323Arg) rs774970799
NM_013352.4(DSE):c.101C>G (p.Pro34Arg) rs35548455
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
NM_013352.4(DSE):c.110A>G (p.Asn37Ser) rs371802983
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr) rs2115093579
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser) rs1423707879
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn) rs2115094114
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu) rs757356537
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs) rs2115094515
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn) rs2115094625
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu) rs2115094990
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs) rs2115095071
NM_013352.4(DSE):c.1686T>A (p.His562Gln) rs2115095121
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
NM_013352.4(DSE):c.171G>T (p.Gln57His)
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
NM_013352.4(DSE):c.182C>A (p.Ala61Asp) rs2114995025
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe) rs1784155007
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser) rs762120249
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys) rs762120249
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
NM_013352.4(DSE):c.2215G>T (p.Ala739Ser) rs1784179508
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter) rs1784181791
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521
NM_013352.4(DSE):c.2465T>C (p.Val822Ala) rs778282572
NM_013352.4(DSE):c.2482del (p.Gln828fs) rs2115098611
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
NM_013352.4(DSE):c.2518G>A (p.Ala840Thr) rs776761775
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly) rs2115099078
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) rs113277624
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp) rs113277624
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
NM_013352.4(DSE):c.277G>A (p.Asp93Asn) rs2114995361
NM_013352.4(DSE):c.2799del (p.Arg933fs) rs1339083714
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
NM_013352.4(DSE):c.325T>G (p.Leu109Val) rs1781471216
NM_013352.4(DSE):c.331A>G (p.Met111Val) rs866132678
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
NM_013352.4(DSE):c.355A>C (p.Asn119His) rs1583172956
NM_013352.4(DSE):c.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
NM_013352.4(DSE):c.480del (p.Ala161fs)
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr) rs76186865
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
NM_013352.4(DSE):c.611A>G (p.Asn204Ser) rs2115065124
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
NM_013352.4(DSE):c.718A>G (p.Met240Val)
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
NM_013352.4(DSE):c.8C>A (p.Thr3Asn) rs1164317142
NM_013352.4(DSE):c.95T>A (p.Met32Lys) rs140765634
NM_014244.5(ADAMTS2):c.*1077A>G rs1011844643
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1589T>C rs533044375
NM_014244.5(ADAMTS2):c.*1747A>C rs886060486
NM_014244.5(ADAMTS2):c.*181C>T rs886060489
NM_014244.5(ADAMTS2):c.*1837T>G rs1003207022
NM_014244.5(ADAMTS2):c.*2169G>A rs1762570717
NM_014244.5(ADAMTS2):c.*2180C>A rs961432521
NM_014244.5(ADAMTS2):c.*2820C>A rs1381911253
NM_014244.5(ADAMTS2):c.*2840T>G rs1008909674
NM_014244.5(ADAMTS2):c.*2923AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*353C>T rs886060487
NM_014244.5(ADAMTS2):c.*835C>T rs1762596121
NM_014244.5(ADAMTS2):c.-45T>C rs886060500
NM_014244.5(ADAMTS2):c.1049A>G (p.Gln350Arg) rs2113265082
NM_014244.5(ADAMTS2):c.1087G>A (p.Ala363Thr)
NM_014244.5(ADAMTS2):c.1102C>T (p.Arg368Trp) rs371384169
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.5(ADAMTS2):c.1132+6C>T
NM_014244.5(ADAMTS2):c.1132+9C>A rs1196360635
NM_014244.5(ADAMTS2):c.1136A>T (p.Tyr379Phe)
NM_014244.5(ADAMTS2):c.113G>A (p.Arg38Lys) rs2127463853
NM_014244.5(ADAMTS2):c.1169G>A (p.Arg390His) rs768623482
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.11C>A (p.Pro4Gln) rs2127463944
NM_014244.5(ADAMTS2):c.1202C>T (p.Ser401Phe)
NM_014244.5(ADAMTS2):c.1210T>C (p.Phe404Leu) rs2113254470
NM_014244.5(ADAMTS2):c.121G>C (p.Ala41Pro) rs1757906922
NM_014244.5(ADAMTS2):c.1271G>A (p.Arg424His)
NM_014244.5(ADAMTS2):c.1279G>A (p.Asp427Asn)
NM_014244.5(ADAMTS2):c.1282G>A (p.Glu428Lys)
NM_014244.5(ADAMTS2):c.1289G>A (p.Arg430Gln)
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn) rs1554100033
NM_014244.5(ADAMTS2):c.1319A>G (p.Gln440Arg)
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp) rs1763419619
NM_014244.5(ADAMTS2):c.1334G>A (p.Arg445His)
NM_014244.5(ADAMTS2):c.1340A>G (p.His447Arg)
NM_014244.5(ADAMTS2):c.1343G>C (p.Trp448Ser) rs1763419118
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His) rs1250691659
NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His) rs768230986
NM_014244.5(ADAMTS2):c.1380G>A (p.Leu460=) rs763194834
NM_014244.5(ADAMTS2):c.1383-3C>A rs1554126056
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=) rs1181728258
NM_014244.5(ADAMTS2):c.139+4G>C rs1023653032
NM_014244.5(ADAMTS2):c.139+6T>A
NM_014244.5(ADAMTS2):c.1407C>A (p.Asp469Glu)
NM_014244.5(ADAMTS2):c.1477C>T (p.Arg493Cys) rs779902229
NM_014244.5(ADAMTS2):c.148C>G (p.Leu50Val)
NM_014244.5(ADAMTS2):c.1516-3C>T rs1763376048
NM_014244.5(ADAMTS2):c.1619C>T (p.Ala540Val)
NM_014244.5(ADAMTS2):c.1622C>T (p.Pro541Leu)
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp) rs1581300233
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val) rs1400281876
NM_014244.5(ADAMTS2):c.1679G>A (p.Arg560Gln)
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu) rs368700721
NM_014244.5(ADAMTS2):c.1696G>A (p.Ala566Thr)
NM_014244.5(ADAMTS2):c.1712G>A (p.Gly571Asp)
NM_014244.5(ADAMTS2):c.1761G>C (p.Gln587His)
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln) rs1561773783
NM_014244.5(ADAMTS2):c.1778C>T (p.Pro593Leu) rs373020640
NM_014244.5(ADAMTS2):c.1783A>G (p.Asn595Asp) rs2113218874
NM_014244.5(ADAMTS2):c.1825C>T (p.Leu609Phe) rs757961083
NM_014244.5(ADAMTS2):c.1835G>A (p.Arg612His) rs1763093799
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=) rs569510744
NM_014244.5(ADAMTS2):c.1849G>A (p.Asp617Asn)
NM_014244.5(ADAMTS2):c.1882C>T (p.Arg628Cys) rs984794583
NM_014244.5(ADAMTS2):c.1904A>G (p.Glu635Gly) rs1763091963
NM_014244.5(ADAMTS2):c.1906C>T (p.His636Tyr)
NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr) rs1763091339
NM_014244.5(ADAMTS2):c.1945C>T (p.Arg649Trp)
NM_014244.5(ADAMTS2):c.1951+3G>T rs1181830676
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=) rs758599662
NM_014244.5(ADAMTS2):c.1997A>T (p.Glu666Val) rs2113214603
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg) rs745588970
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2017A>G (p.Met673Val)
NM_014244.5(ADAMTS2):c.2018T>C (p.Met673Thr)
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.5(ADAMTS2):c.2047A>G (p.Lys683Glu)
NM_014244.5(ADAMTS2):c.2052C>G (p.Asp684Glu)
NM_014244.5(ADAMTS2):c.2054C>T (p.Ala685Val)
NM_014244.5(ADAMTS2):c.2071C>A (p.Arg691Ser)
NM_014244.5(ADAMTS2):c.2071C>T (p.Arg691Cys)
NM_014244.5(ADAMTS2):c.2072G>A (p.Arg691His)
NM_014244.5(ADAMTS2):c.2075G>A (p.Gly692Glu)
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg) rs1581145754
NM_014244.5(ADAMTS2):c.2140G>A (p.Val714Met)
NM_014244.5(ADAMTS2):c.2146G>C (p.Gly716Arg)
NM_014244.5(ADAMTS2):c.215C>T (p.Ser72Phe)
NM_014244.5(ADAMTS2):c.2192G>A (p.Arg731Gln)
NM_014244.5(ADAMTS2):c.2198C>G (p.Pro733Arg) rs1581143324
NM_014244.5(ADAMTS2):c.2208T>C (p.His736=) rs2113206149
NM_014244.5(ADAMTS2):c.2210G>T (p.Gly737Val)
NM_014244.5(ADAMTS2):c.2215A>G (p.Ile739Val) rs762128833
NM_014244.5(ADAMTS2):c.2218A>G (p.Lys740Glu) rs946826671
NM_014244.5(ADAMTS2):c.2242G>A (p.Ala748Thr)
NM_014244.5(ADAMTS2):c.2258T>C (p.Ile753Thr)
NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala)
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.5(ADAMTS2):c.22G>A (p.Ala8Thr) rs1267078082
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu) rs979142284
NM_014244.5(ADAMTS2):c.236C>T (p.Thr79Met) rs1054586627
NM_014244.5(ADAMTS2):c.2377G>A (p.Val793Met)
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys) rs747447840
NM_014244.5(ADAMTS2):c.2404G>A (p.Gly802Ser)
NM_014244.5(ADAMTS2):c.2407C>G (p.Arg803Gly)
NM_014244.5(ADAMTS2):c.2407C>T (p.Arg803Trp)
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) rs370350117
NM_014244.5(ADAMTS2):c.2440_2445del (p.Gly814_Thr815del)
NM_014244.5(ADAMTS2):c.2450C>G (p.Thr817Ser)
NM_014244.5(ADAMTS2):c.2452G>A (p.Val818Ile)
NM_014244.5(ADAMTS2):c.2465C>T (p.Pro822Leu) rs777107579
NM_014244.5(ADAMTS2):c.2477C>T (p.Thr826Ile)
NM_014244.5(ADAMTS2):c.2506A>C (p.Ile836Leu)
NM_014244.5(ADAMTS2):c.2530GAC[1] (p.Asp845del) rs779695756
NM_014244.5(ADAMTS2):c.2569G>A (p.Glu857Lys)
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.2591C>T (p.Ser864Phe)
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val) rs1338541722
NM_014244.5(ADAMTS2):c.2626T>C (p.Phe876Leu)
NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn)
NM_014244.5(ADAMTS2):c.2644C>T (p.Arg882Cys)
NM_014244.5(ADAMTS2):c.2666T>C (p.Met889Thr)
NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys) rs1554123906
NM_014244.5(ADAMTS2):c.268G>A (p.Ala90Thr)
NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=) rs567635584
NM_014244.5(ADAMTS2):c.2750+3G>A
NM_014244.5(ADAMTS2):c.2773C>A (p.Pro925Thr)
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn) rs1193602528
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.5(ADAMTS2):c.2821C>A (p.Arg941Ser)
NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=) rs1397278885
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2840A>G (p.His947Arg) rs1762831111
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del) rs765659887
NM_014244.5(ADAMTS2):c.2849C>T (p.Thr950Ile) rs1762830772
NM_014244.5(ADAMTS2):c.284C>T (p.Pro95Leu)
NM_014244.5(ADAMTS2):c.2885C>T (p.Ala962Val)
NM_014244.5(ADAMTS2):c.2888G>A (p.Arg963Gln)
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His) rs775213299
NM_014244.5(ADAMTS2):c.292C>G (p.Pro98Ala) rs2127463418
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp) rs1200659345
NM_014244.5(ADAMTS2):c.293C>G (p.Pro98Arg)
NM_014244.5(ADAMTS2):c.2944G>A (p.Gly982Arg)
NM_014244.5(ADAMTS2):c.2959-6C>T rs2113181904
NM_014244.5(ADAMTS2):c.2959-7C>G rs748783596
NM_014244.5(ADAMTS2):c.2965G>C (p.Val989Leu) rs2113181846
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=) rs571054777
NM_014244.5(ADAMTS2):c.3013G>A (p.Ala1005Thr)
NM_014244.5(ADAMTS2):c.3019G>A (p.Asp1007Asn)
NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)
NM_014244.5(ADAMTS2):c.3047G>T (p.Arg1016Leu) rs746802388
NM_014244.5(ADAMTS2):c.3047_3048delinsTC (p.Arg1016Leu) rs1762785033
NM_014244.5(ADAMTS2):c.3048T>C (p.Arg1016=) rs780184702
NM_014244.5(ADAMTS2):c.3062G>A (p.Arg1021Lys) rs2113181448
NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser) rs1762784582
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu) rs1340671554
NM_014244.5(ADAMTS2):c.3097T>C (p.Ser1033Pro)
NM_014244.5(ADAMTS2):c.310G>A (p.Glu104Lys) rs1757859981
NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His) rs1413406706
NM_014244.5(ADAMTS2):c.3145G>A (p.Asp1049Asn)
NM_014244.5(ADAMTS2):c.314C>G (p.Pro105Arg) rs1757859721
NM_014244.5(ADAMTS2):c.3158C>A (p.Pro1053His)
NM_014244.5(ADAMTS2):c.3161_3163del (p.Ile1054del)
NM_014244.5(ADAMTS2):c.3178+4A>G rs948167718
NM_014244.5(ADAMTS2):c.3178+5C>T
NM_014244.5(ADAMTS2):c.3219G>A (p.Met1073Ile)
NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=) rs1762622649
NM_014244.5(ADAMTS2):c.3304G>A (p.Val1102Met)
NM_014244.5(ADAMTS2):c.3305T>G (p.Val1102Gly)
NM_014244.5(ADAMTS2):c.3319G>C (p.Glu1107Gln) rs775059458
NM_014244.5(ADAMTS2):c.3323C>T (p.Pro1108Leu)
NM_014244.5(ADAMTS2):c.3343G>C (p.Asp1115His)
NM_014244.5(ADAMTS2):c.3352G>C (p.Val1118Leu)
NM_014244.5(ADAMTS2):c.3358A>G (p.Met1120Val) rs2113161569
NM_014244.5(ADAMTS2):c.335A>G (p.Asn112Ser)
NM_014244.5(ADAMTS2):c.3366C>T (p.Thr1122=) rs752223388
NM_014244.5(ADAMTS2):c.337G>A (p.Val113Ile) rs1757858860
NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile) rs368462217
NM_014244.5(ADAMTS2):c.3391G>A (p.Glu1131Lys) rs2113161430
NM_014244.5(ADAMTS2):c.3401C>T (p.Pro1134Leu)
NM_014244.5(ADAMTS2):c.3419del (p.Leu1140fs) rs2113161364
NM_014244.5(ADAMTS2):c.3427C>A (p.Pro1143Thr) rs2113161332
NM_014244.5(ADAMTS2):c.3455C>T (p.Thr1152Ile)
NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val) rs1232899709
NM_014244.5(ADAMTS2):c.3480C>G (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3481G>A (p.Val1161Ile)
NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser) rs776115866
NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro) rs141541318
NM_014244.5(ADAMTS2):c.3529_3530delinsTT (p.Pro1177Phe) rs2113161027
NM_014244.5(ADAMTS2):c.3530C>T (p.Pro1177Leu)
NM_014244.5(ADAMTS2):c.3548G>A (p.Arg1183Gln)
NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser) rs2113160848
NM_014244.5(ADAMTS2):c.3590A>G (p.Glu1197Gly) rs1561761828
NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe)
NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp) rs1762614743
NM_014244.5(ADAMTS2):c.365T>G (p.Leu122Arg) rs1757857775
NM_014244.5(ADAMTS2):c.368G>A (p.Arg123Gln)
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp) rs535594659
NM_014244.5(ADAMTS2):c.377C>A (p.Pro126His) rs1247479642
NM_014244.5(ADAMTS2):c.41C>G (p.Pro14Arg) rs2127463924
NM_014244.5(ADAMTS2):c.41C>T (p.Pro14Leu) rs2127463924
NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly) rs1757854963
NM_014244.5(ADAMTS2):c.440G>T (p.Arg147Leu) rs1003741366
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.449C>G (p.Pro150Arg)
NM_014244.5(ADAMTS2):c.458G>A (p.Gly153Glu) rs2127463330
NM_014244.5(ADAMTS2):c.461G>A (p.Ser154Asn)
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[11] (p.Leu21_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[12] (p.Leu20_Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[13] (p.Leu23_Pro24insLeuLeuLeuLeuLeu) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[6] (p.Leu22_Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.487G>C (p.Gly163Arg)
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup) rs1365580904
NM_014244.5(ADAMTS2):c.526G>A (p.Asp176Asn) rs1207222735
NM_014244.5(ADAMTS2):c.527A>G (p.Asp176Gly)
NM_014244.5(ADAMTS2):c.548G>A (p.Arg183Gln)
NM_014244.5(ADAMTS2):c.581T>C (p.Leu194Ser)
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu) rs76704342
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr) rs543859669
NM_014244.5(ADAMTS2):c.637C>G (p.Arg213Gly)
NM_014244.5(ADAMTS2):c.64_65insCGC (p.Leu21_Leu22insPro)
NM_014244.5(ADAMTS2):c.650C>A (p.Thr217Lys)
NM_014244.5(ADAMTS2):c.650C>T (p.Thr217Met)
NM_014244.5(ADAMTS2):c.656C>G (p.Pro219Arg) rs1766583475
NM_014244.5(ADAMTS2):c.65_66insTCT (p.Leu23_Pro24insLeu)
NM_014244.5(ADAMTS2):c.65_76dup (p.Pro25_Pro26insLeuLeuProPro) rs2127463883
NM_014244.5(ADAMTS2):c.661C>T (p.Leu221Phe)
NM_014244.5(ADAMTS2):c.664G>A (p.Gly222Arg)
NM_014244.5(ADAMTS2):c.670C>T (p.Pro224Ser)
NM_014244.5(ADAMTS2):c.685A>G (p.Thr229Ala)
NM_014244.5(ADAMTS2):c.699GGACAGCCT[1] (p.234DSL[1]) rs778523767
NM_014244.5(ADAMTS2):c.699GGACAGCCT[3] (p.234DSL[3]) rs778523767
NM_014244.5(ADAMTS2):c.700G>A (p.Asp234Asn)
NM_014244.5(ADAMTS2):c.70_71insTGCCGCTGCTGC (p.Leu23_Pro24insLeuProLeuLeu) rs2127463894
NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg)
NM_014244.5(ADAMTS2):c.71CGC[2] (p.Pro26del) rs763392299
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71CGC[5] (p.Pro25_Pro26dup) rs763392299
NM_014244.5(ADAMTS2):c.71_82del (p.Pro24_Leu27del)
NM_014244.5(ADAMTS2):c.722G>T (p.Arg241Leu) rs11750821
NM_014244.5(ADAMTS2):c.725C>G (p.Ala242Gly)
NM_014244.5(ADAMTS2):c.732_733delinsTA (p.Val245Ile)
NM_014244.5(ADAMTS2):c.74C>A (p.Pro25Gln) rs1362955704
NM_014244.5(ADAMTS2):c.758C>T (p.Ser253Leu) rs750197805
NM_014244.5(ADAMTS2):c.767G>A (p.Arg256Lys) rs1764733855
NM_014244.5(ADAMTS2):c.76_77insTCCTGC (p.Pro25_Pro26insLeuLeu)
NM_014244.5(ADAMTS2):c.770C>T (p.Ala257Val) rs370679548
NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu) rs144235544
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup) rs1757908540
NM_014244.5(ADAMTS2):c.79_80insCAC (p.Pro26dup) rs1561778823
NM_014244.5(ADAMTS2):c.79_80insCGCTCCTGCCGC (p.Pro26_Leu27insProLeuLeuPro) rs1554100051
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Pro26_Leu27insArg) rs1561778823
NM_014244.5(ADAMTS2):c.80TCCTGCCGCCGCCGCCGCCGC[3] (p.Pro33_Pro34insLeuLeuProProProProProLeuLeuProProProProPro)
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1]) rs1041304220
NM_014244.5(ADAMTS2):c.821T>C (p.Val274Ala) rs1373325794
NM_014244.5(ADAMTS2):c.82_102dup (p.Pro34_Ala35insLeuProProProProProPro)
NM_014244.5(ADAMTS2):c.832G>A (p.Val278Met) rs1764731152
NM_014244.5(ADAMTS2):c.836T>C (p.Val279Ala)
NM_014244.5(ADAMTS2):c.84GCC[5] (p.Pro34del) rs770212030
NM_014244.5(ADAMTS2):c.84GCC[7] (p.Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.84GCC[8] (p.Pro33_Pro34dup) rs770212030
NM_014244.5(ADAMTS2):c.858_859delinsTA (p.Val287Ile)
NM_014244.5(ADAMTS2):c.863A>C (p.Gln288Pro) rs368893222
NM_014244.5(ADAMTS2):c.896A>C (p.Asn299Thr)
NM_014244.5(ADAMTS2):c.896A>G (p.Asn299Ser)
NM_014244.5(ADAMTS2):c.89C>A (p.Pro30Gln)
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=) rs1764038673
NM_014244.5(ADAMTS2):c.950G>A (p.Arg317Gln)
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.5(ADAMTS2):c.98C>A (p.Pro33Gln)
NM_017946.4(FKBP14):c.116A>G (p.His39Arg) rs778007431
NM_017946.4(FKBP14):c.119G>A (p.Arg40His) rs1554371032
NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly) rs1159422560
NM_017946.4(FKBP14):c.164A>G (p.Tyr55Cys) rs1156382110
NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe) rs1583738133
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe)
NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg)
NM_017946.4(FKBP14):c.206A>G (p.His69Arg) rs564539430
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys)
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys) rs1264425307
NM_017946.4(FKBP14):c.250G>A (p.Ala84Thr) rs935783818
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg) rs543492611
NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln)
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg) rs1376933291
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe)
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile) rs1235130674
NM_017946.4(FKBP14):c.349+6A>C rs1790066082
NM_017946.4(FKBP14):c.349G>A (p.Gly117Ser) rs752455232
NM_017946.4(FKBP14):c.350-8C>G rs368867118
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val) rs771396716
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu)
NM_017946.4(FKBP14):c.445C>G (p.Leu149Val) rs2127948264
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) rs753775062
NM_017946.4(FKBP14):c.467_469del (p.Ser156_Lys157delinsTer) rs2127948247
NM_017946.4(FKBP14):c.471A>C (p.Lys157Asn) rs1789962057
NM_017946.4(FKBP14):c.478-1G>A rs2127946672
NM_017946.4(FKBP14):c.50T>C (p.Leu17Ser) rs1554371125
NM_017946.4(FKBP14):c.511C>T (p.His171Tyr) rs1583725676
NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser) rs2127946652
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val)
NM_017946.4(FKBP14):c.535CAT[1] (p.His180del)
NM_017946.4(FKBP14):c.537T>A (p.His179Gln)
NM_017946.4(FKBP14):c.53T>C (p.Ile18Thr)
NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr) rs766873942
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) rs773564727
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln) rs141843195
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp) rs1283044971
NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn) rs1439447377
NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu) rs1347395907
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)
NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser)
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser) rs2127950957
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met)
NM_017946.4(FKBP14):c.99G>T (p.Gln33His)
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1305T>G (p.His435Gln) rs1177252653
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.4(PRDM5):c.1538-5T>G rs1744464153
NM_018699.4(PRDM5):c.1698G>A (p.Thr566=) rs764095834
NM_018699.4(PRDM5):c.1795C>T (p.Arg599Cys) rs1451159185
NM_018699.4(PRDM5):c.1851C>T (p.Leu617=) rs767571327
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.4(PRDM5):c.374A>G (p.Asp125Gly) rs750374228
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
NM_018699.4(PRDM5):c.475+9T>A rs1561379470
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.4(PRDM5):c.650+7A>T rs751182540
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_018699.4(PRDM5):c.94-10T>G rs886059045
NM_018699.4(PRDM5):c.946-9C>T rs886059042
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp) rs1638529780
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) rs1249919137
NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg) rs1156566104
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs) rs1638536337
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) rs1035452129
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) rs950488335
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val) rs963500907
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) rs1638538307
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) rs2100993440
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs) rs2100993446
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup) rs1638539426
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser) rs1436567011
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met) rs1174370874
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) rs1553151151
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) rs2100993592
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) rs2100993072
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) rs1468255826
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) rs558454078
NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg) rs1638548585
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu) rs767598361
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) rs1478246707
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val) rs2100993852
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)
NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln) rs1557526286
NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) rs1638553187
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) rs2100993929
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp) rs1638554377
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) rs2100993997
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) rs778123798
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) rs2100994072
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) rs1057034356
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp) rs1004549168
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg) rs2100994186
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) rs1405919033
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) rs1170976606
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser) rs1638560291
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) rs866914942
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs) rs2100994328
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly) rs2100994545
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val) rs2100994545
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) rs1553151166
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)
NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) rs2100994661
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) rs2100994726
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu) rs988906237
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs) rs1339079870
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
NM_130468.4(CHST14):c.1033dup (p.Arg345fs)
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val) rs1566969372
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.130A>G (p.Met44Val) rs1043447552
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe) rs1046833753
NM_130468.4(CHST14):c.151G>A (p.Val51Met) rs199749498
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly) rs1475453618
NM_130468.4(CHST14):c.275G>T (p.Gly92Val) rs754720949
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) rs1354036515
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro) rs1235160320
NM_130468.4(CHST14):c.448C>G (p.Leu150Val) rs2141570771
NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys) rs1894349669
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn) rs1555410748
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro) rs756707600
NM_130468.4(CHST14):c.612G>T (p.Gln204His) rs1894353008
NM_130468.4(CHST14):c.61G>A (p.Ala21Thr) rs1894339727
NM_130468.4(CHST14):c.628C>G (p.Leu210Val) rs1894353259
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
NM_130468.4(CHST14):c.637C>T (p.Arg213Trp) rs1894353511
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp) rs146662235
NM_130468.4(CHST14):c.654_655delinsTT (p.Leu219Phe)
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) rs1894354295
NM_130468.4(CHST14):c.670C>T (p.Arg224Cys) rs1894354337
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) rs1043019552
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln) rs751335857
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg) rs532315121
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) rs1894355892
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg) rs2141571079
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
NM_130468.4(CHST14):c.977C>T (p.Ala326Val) rs1234827728
Single allele

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