ClinVar Miner

List of variants in gene COL9A1

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Gene type:
ClinVar version:
Total variants: 1200
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1230+211T>C rs551470 0.96455
NM_001851.6(COL9A1):c.1504-32T>G rs633762 0.83978
NM_001851.6(COL9A1):c.2582-114C>T rs1200569 0.77585
NM_001851.6(COL9A1):c.976-87A>G rs603304 0.51791
NM_001851.6(COL9A1):c.1230+143G>A rs550675 0.49176
NM_001851.6(COL9A1):c.1765-26T>C rs519068 0.48558
NM_001851.6(COL9A1):c.15-54G>A rs2242589 0.47156
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_001851.6(COL9A1):c.1449+61G>A rs2024730 0.43730
NM_001851.6(COL9A1):c.1720-147A>G rs701688 0.42598
NM_001851.6(COL9A1):c.1720-100T>C rs701689 0.42589
NM_001851.6(COL9A1):c.1720-24A>C rs701690 0.42215
NM_001851.6(COL9A1):c.*266T>C rs1064250 0.40880
NM_001851.6(COL9A1):c.1503+298T>C rs506908 0.39345
NM_001851.6(COL9A1):c.1065+271C>T rs7754619 0.39266
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_001851.6(COL9A1):c.1066-273A>C rs12530229 0.37761
NM_001851.6(COL9A1):c.1450-270C>T rs1711729 0.37353
NM_001851.6(COL9A1):c.2259+32T>C rs12191701 0.36512
NM_001851.6(COL9A1):c.976-88C>T rs2274583 0.32386
NM_001851.6(COL9A1):c.975+132T>A rs6455360 0.23862
NM_001851.6(COL9A1):c.1872+78T>C rs2274586 0.22415
NM_001851.6(COL9A1):c.1144-177T>C rs2296930 0.22403
NM_001851.6(COL9A1):c.975+45G>A rs7764822 0.21907
NM_001851.6(COL9A1):c.14+39A>G rs2242588 0.21553
NM_001851.6(COL9A1):c.89-12T>C rs12210123 0.20825
NM_001851.6(COL9A1):c.1288-65T>C rs883708 0.20312
NM_001851.6(COL9A1):c.2582-149C>G rs2881343 0.19251
NM_001851.6(COL9A1):c.1449+245T>C rs113677659 0.18980
NM_001851.4(COL9A1):c.-364C>G rs6916646 0.18833
NM_001851.6(COL9A1):c.1765-201C>T rs1321059 0.18322
NM_001851.6(COL9A1):c.1927-243C>T rs6455357 0.18124
NM_001851.6(COL9A1):c.2259+55C>G rs10945205 0.15888
NM_001851.6(COL9A1):c.1765-163G>A rs9455017 0.15870
NM_001851.6(COL9A1):c.1765-146A>G rs9446215 0.15860
NM_001851.6(COL9A1):c.1230+12T>C rs6935778 0.15856
NM_001851.6(COL9A1):c.2080-118G>A rs45464198 0.15769
NM_001851.6(COL9A1):c.1450-206T>C rs10945208 0.15475
NM_001851.6(COL9A1):c.2080-90T>C rs13216129 0.15047
NM_001851.6(COL9A1):c.2314+119C>G rs12197487 0.14928
NM_001851.6(COL9A1):c.2314+235G>T rs10945204 0.14582
NM_001851.6(COL9A1):c.1395+239A>G rs10945209 0.13470
NM_001851.6(COL9A1):c.1612-26C>A rs13219431 0.13355
NM_001851.6(COL9A1):c.1342-200T>A rs10945210 0.12656
NM_001851.6(COL9A1):c.1288-188A>C rs12196905 0.12653
NM_001851.6(COL9A1):c.1341+117T>A rs12195310 0.12631
NM_001851.6(COL9A1):c.1030-178T>C rs701683 0.12073
NM_001851.6(COL9A1):c.88+150G>T rs9455036 0.11871
NM_001851.6(COL9A1):c.88+151T>A rs9455035 0.11871
NM_001851.6(COL9A1):c.15-199C>G rs9446221 0.10455
NM_001851.6(COL9A1):c.2034+177A>G rs73749919 0.10200
NM_001851.6(COL9A1):c.*229T>C rs2459555 0.09712
NM_001851.6(COL9A1):c.2080-30T>C rs9446213 0.07884
NM_001851.6(COL9A1):c.2035-162A>G rs571510344 0.07883
NM_001851.6(COL9A1):c.1999-83T>C rs9455013 0.07822
NM_001851.6(COL9A1):c.976-173C>A rs603410 0.07801
NM_001851.6(COL9A1):c.2079+37A>G rs6914511 0.07742
NM_001851.6(COL9A1):c.1071T>C (p.Arg357=) rs607156 0.07381
NM_001851.6(COL9A1):c.1287+110A>G rs10755539 0.07340
NM_001851.6(COL9A1):c.877-23C>G rs6928611 0.07064
NM_001851.6(COL9A1):c.1998+220G>T rs73749922 0.06978
NM_001851.6(COL9A1):c.1998+224G>T rs73749921 0.06978
NM_001851.6(COL9A1):c.-107A>G rs9455037 0.05976
NM_001851.6(COL9A1):c.15-88_15-82del rs71711228 0.05613
NM_001851.6(COL9A1):c.15-134A>G rs941438239 0.04976
NM_001851.6(COL9A1):c.88+108C>T rs9294863 0.04851
NM_001851.6(COL9A1):c.780+171T>G rs62420260 0.04839
NM_001851.6(COL9A1):c.2503+69C>T rs74699744 0.04826
NM_001851.6(COL9A1):c.1926+300T>C rs75350484 0.04823
NM_001851.6(COL9A1):c.780+380G>A rs72927370 0.04731
NM_001851.6(COL9A1):c.1066-36C>A rs77357454 0.04608
NM_001851.6(COL9A1):c.1066-316C>A rs117607348 0.04604
NM_001851.6(COL9A1):c.876+13C>T rs117215769 0.04499
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001851.6(COL9A1):c.1719+122A>G rs6923863 0.04272
NM_001851.6(COL9A1):c.1666-65C>T rs620023 0.04262
NM_001851.6(COL9A1):c.1504-14T>A rs537940 0.04260
NM_001851.6(COL9A1):c.1665+54A>G rs542440 0.04253
NM_001851.6(COL9A1):c.88+195G>A rs117426118 0.04187
NM_001851.6(COL9A1):c.1198-232T>C rs6936355 0.04152
NM_001851.6(COL9A1):c.1197+265C>T rs6913123 0.04131
NM_001851.6(COL9A1):c.1230+292C>T rs3737010 0.04079
NM_001851.6(COL9A1):c.1720-115A>G rs3806081 0.04039
NM_001851.6(COL9A1):c.1342-152T>G rs11760185 0.03978
NM_001851.6(COL9A1):c.2504-47A>G rs79282554 0.03680
NM_001851.6(COL9A1):c.1719+238T>A rs2296931 0.03673
NM_001851.6(COL9A1):c.1144-264T>C rs16868852 0.03528
NM_001851.6(COL9A1):c.2113-90C>T rs72923125 0.03442
NM_001851.6(COL9A1):c.2113-182G>A rs72923127 0.03434
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001851.6(COL9A1):c.14+132G>A rs117734911 0.02830
NM_001851.6(COL9A1):c.1231-141G>A rs78257047 0.02702
NM_001851.6(COL9A1):c.1764+273A>T rs75073449 0.02624
NM_001851.6(COL9A1):c.1143+308C>G rs16868866 0.02480
NM_001851.6(COL9A1):c.1066-324G>A rs1887762 0.02451
NM_001851.6(COL9A1):c.1066-218A>T rs78944678 0.02229
NM_001851.6(COL9A1):c.1030-20G>T rs16868897 0.02172
NM_001851.6(COL9A1):c.1030-301G>A rs112075981 0.02160
NM_001851.6(COL9A1):c.1231-79G>T rs116114924 0.02083
NM_001851.6(COL9A1):c.2112+69T>C rs115948163 0.02035
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_001851.6(COL9A1):c.912+37C>T rs41303785 0.01812
NM_001851.6(COL9A1):c.1396-87C>T rs114865373 0.01786
NM_001851.6(COL9A1):c.1999-95C>T rs75139444 0.01663
NM_001851.6(COL9A1):c.2582-164T>C rs9455005 0.01460
NM_001851.6(COL9A1):c.2582-103G>A rs9455004 0.01439
NC_000006.12:g.70303155G>A rs73747757 0.01372
NM_001851.6(COL9A1):c.802-22C>T rs73745359 0.01297
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001851.6(COL9A1):c.1030-144C>A rs138106425 0.01161
NM_001851.6(COL9A1):c.1927-171C>T rs150796746 0.01126
NM_001851.6(COL9A1):c.14+133G>A rs113812077 0.01008
NM_001851.6(COL9A1):c.2113-191T>C rs74780299 0.00890
NM_001851.6(COL9A1):c.1719+173T>G rs75168457 0.00865
NM_001851.6(COL9A1):c.801+154A>T rs117320420 0.00825
NM_001851.6(COL9A1):c.2582-231A>T rs77849671 0.00787
NM_001851.6(COL9A1):c.801+306G>A rs142034122 0.00777
NM_001851.6(COL9A1):c.1666-32G>A rs72923190 0.00751
NM_001851.6(COL9A1):c.976-157T>C rs41265345 0.00735
NM_001851.6(COL9A1):c.1665+142T>A rs147347330 0.00697
NM_001851.6(COL9A1):c.697-125G>A rs6905075 0.00668
NM_001851.6(COL9A1):c.15-53T>C rs112025673 0.00653
NM_001851.6(COL9A1):c.1288-146T>A rs74917222 0.00588
NM_001851.6(COL9A1):c.1198-164C>T rs79863473 0.00586
NM_001851.6(COL9A1):c.1287+144G>T rs146610513 0.00498
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
NM_001851.6(COL9A1):c.1927-181A>T rs115255573 0.00490
NM_001851.6(COL9A1):c.15-159C>T rs368083151 0.00472
NM_001851.6(COL9A1):c.781-218C>T rs73473599 0.00449
NM_001851.6(COL9A1):c.802-148C>G rs73473597 0.00448
NM_001851.6(COL9A1):c.876+6T>C rs73473595 0.00444
NM_001851.6(COL9A1):c.1341+185T>C rs112738770 0.00442
NM_001851.6(COL9A1):c.876+76G>T rs6934633 0.00407
NM_001851.6(COL9A1):c.1197+11T>C rs73745357 0.00388
NM_001851.6(COL9A1):c.89-28G>A rs183387139 0.00387
NM_001851.6(COL9A1):c.1231-77T>C rs111533861 0.00384
NM_001851.6(COL9A1):c.300-136A>G rs76693521 0.00380
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1143+191C>T rs6905099 0.00331
NM_001851.6(COL9A1):c.975+198A>G rs115555867 0.00330
NM_001851.6(COL9A1):c.1665+86A>G rs139494795 0.00326
NM_001851.6(COL9A1):c.1065+84T>G rs187706293 0.00324
NM_001851.6(COL9A1):c.1395+301C>T rs139153122 0.00324
NM_001851.6(COL9A1):c.1066-206A>G rs113541357 0.00323
NM_001851.6(COL9A1):c.1342-207T>G rs190799074 0.00323
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_001851.6(COL9A1):c.2034+158G>T rs77219154 0.00317
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_001851.6(COL9A1):c.696+26C>A rs145141059 0.00310
NM_001851.6(COL9A1):c.1612-25A>G rs142559198 0.00302
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.299+14A>C rs138522232 0.00214
NM_001851.6(COL9A1):c.-50A>G rs141436759 0.00213
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001851.6(COL9A1):c.1720-11T>C rs374054294 0.00081
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001851.6(COL9A1):c.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.1368C>T (p.Leu456=) rs140761349 0.00053
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) rs141830060 0.00039
NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu) rs149389568 0.00033
NM_001851.6(COL9A1):c.1090-6C>T rs369198071 0.00031
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00031
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.1423G>A (p.Gly475Ser) rs143320197 0.00024
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_001851.6(COL9A1):c.976-10G>T rs200618486 0.00019
NM_001851.6(COL9A1):c.2304A>G (p.Arg768=) rs138465615 0.00018
NM_001851.6(COL9A1):c.1818+7_1818+10dup rs200555682 0.00017
NM_001851.6(COL9A1):c.2259+7G>T rs373480203 0.00017
NM_001851.6(COL9A1):c.831C>A (p.Pro277=) rs145800598 0.00017
NM_001851.6(COL9A1):c.1070G>A (p.Arg357His) rs139288475 0.00016
NM_001851.6(COL9A1):c.158A>G (p.Asp53Gly) rs564421091 0.00016
NM_001851.6(COL9A1):c.2535T>C (p.Pro845=) rs751660212 0.00016
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001851.6(COL9A1):c.80G>A (p.Arg27His) rs150026024 0.00016
NM_001851.6(COL9A1):c.1066-20T>C rs574015478 0.00015
NM_001851.6(COL9A1):c.166+20A>G rs376369283 0.00015
NM_001851.6(COL9A1):c.1426A>G (p.Ile476Val) rs1135054 0.00014
NM_001851.6(COL9A1):c.1558G>A (p.Gly520Arg) rs147731531 0.00014
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val) rs142539130 0.00013
NM_001851.6(COL9A1):c.453A>G (p.Gln151=) rs372580255 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.2504-5T>C rs568295931 0.00012
NM_001851.6(COL9A1):c.2754G>A (p.Gly918=) rs373430094 0.00012
NM_001851.6(COL9A1):c.827C>T (p.Pro276Leu) rs200322941 0.00012
NM_001851.6(COL9A1):c.1055G>A (p.Arg352His) rs200540554 0.00011
NM_001851.6(COL9A1):c.1282A>C (p.Met428Leu) rs146274972 0.00011
NM_001851.6(COL9A1):c.1554T>C (p.Asp518=) rs746982749 0.00011
NM_001851.6(COL9A1):c.1665+5G>T rs369698214 0.00011
NM_001851.6(COL9A1):c.1818+3A>G rs369133694 0.00011
NM_001851.6(COL9A1):c.1992T>G (p.Gly664=) rs138810927 0.00011
NM_001851.6(COL9A1):c.512A>G (p.Asn171Ser) rs201634520 0.00011
NM_001851.6(COL9A1):c.71C>T (p.Ala24Val) rs776655718 0.00011
NM_001851.6(COL9A1):c.780+7C>A rs370822868 0.00011
NM_001851.6(COL9A1):c.1192C>T (p.Pro398Ser) rs142579851 0.00010
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001851.6(COL9A1):c.1718C>T (p.Pro573Leu) rs746183818 0.00009
NM_001851.6(COL9A1):c.1732A>T (p.Ile578Phe) rs552818441 0.00009
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met) rs200018557 0.00009
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala) rs140274454 0.00009
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser) rs376107070 0.00009
NM_001851.6(COL9A1):c.11G>A (p.Cys4Tyr) rs547666229 0.00008
NM_001851.6(COL9A1):c.15-13del rs752840659 0.00008
NM_001851.6(COL9A1):c.15-15T>C rs773055477 0.00008
NM_001851.6(COL9A1):c.2073G>A (p.Gly691=) rs577242300 0.00008
NM_001851.6(COL9A1):c.2553C>T (p.Asn851=) rs534752381 0.00008
NM_001851.6(COL9A1):c.801+19G>T rs540401330 0.00008
NM_001851.6(COL9A1):c.15-3C>T rs367798424 0.00007
NM_001851.6(COL9A1):c.1504-19A>C rs377339892 0.00007
NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala) rs201480339 0.00007
NM_001851.6(COL9A1):c.645T>C (p.Asp215=) rs138147561 0.00007
NM_001851.6(COL9A1):c.88+19A>C rs188749185 0.00007
NM_001851.6(COL9A1):c.1010T>C (p.Ile337Thr) rs147747530 0.00006
NM_001851.6(COL9A1):c.1138C>T (p.Pro380Ser) rs368495915 0.00006
NM_001851.6(COL9A1):c.1197+14del rs779863197 0.00006
NM_001851.6(COL9A1):c.1384C>G (p.Gln462Glu) rs201364357 0.00006
NM_001851.6(COL9A1):c.1504-3C>T rs533952787 0.00006
NM_001851.6(COL9A1):c.1558-18T>C rs192159251 0.00006
NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met) rs141895443 0.00006
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=) rs529005717 0.00006
NM_001851.6(COL9A1):c.1620A>G (p.Pro540=) rs199559331 0.00006
NM_001851.6(COL9A1):c.1666-10T>G rs762825632 0.00006
NM_001851.6(COL9A1):c.2035-5T>A rs750454914 0.00006
NM_001851.6(COL9A1):c.2348G>A (p.Arg783His) rs375684014 0.00006
NM_001851.6(COL9A1):c.2622C>T (p.Asp874=) rs149139869 0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001851.6(COL9A1):c.584T>C (p.Phe195Ser) rs776065464 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys) rs376664058 0.00005
NM_001851.6(COL9A1):c.1376T>C (p.Val459Ala) rs761676771 0.00005
NM_001851.6(COL9A1):c.1562C>T (p.Ala521Val) rs773325813 0.00005
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_001851.6(COL9A1):c.2401C>T (p.Pro801Ser) rs147095719 0.00005
NM_001851.6(COL9A1):c.2675C>T (p.Pro892Leu) rs760617713 0.00005
NM_001851.6(COL9A1):c.1065+75A>T rs1033750704 0.00004
NM_001851.6(COL9A1):c.107A>G (p.Asn36Ser) rs1264829149 0.00004
NM_001851.6(COL9A1):c.1141G>A (p.Val381Ile) rs1245320559 0.00004
NM_001851.6(COL9A1):c.1201A>G (p.Thr401Ala) rs138091050 0.00004
NM_001851.6(COL9A1):c.1322C>A (p.Pro441Gln) rs558743694 0.00004
NM_001851.6(COL9A1):c.1410G>A (p.Leu470=) rs934572839 0.00004
NM_001851.6(COL9A1):c.1505G>A (p.Gly502Asp) rs376101677 0.00004
NM_001851.6(COL9A1):c.1593T>G (p.Pro531=) rs1012675549 0.00004
NM_001851.6(COL9A1):c.1682C>G (p.Pro561Arg) rs982761741 0.00004
NM_001851.6(COL9A1):c.1877G>A (p.Ser626Asn) rs758159064 0.00004
NM_001851.6(COL9A1):c.1961C>T (p.Pro654Leu) rs766455840 0.00004
NM_001851.6(COL9A1):c.1999-16A>G rs202160267 0.00004
NM_001851.6(COL9A1):c.2008G>A (p.Gly670Ser) rs778543412 0.00004
NM_001851.6(COL9A1):c.2403C>T (p.Pro801=) rs759764758 0.00004
NM_001851.6(COL9A1):c.685G>A (p.Val229Ile) rs372320539 0.00004
NM_001851.6(COL9A1):c.697-4C>G rs760266478 0.00004
NM_001851.6(COL9A1):c.6G>T (p.Lys2Asn) rs775789844 0.00004
NM_001851.6(COL9A1):c.801+10G>C rs542704238 0.00004
NM_001851.6(COL9A1):c.876+10T>C rs1003254608 0.00004
NM_001851.6(COL9A1):c.899C>T (p.Pro300Leu) rs757897415 0.00004
NM_001851.6(COL9A1):c.*174T>C rs776515044 0.00003
NM_001851.6(COL9A1):c.1107A>G (p.Ala369=) rs747443799 0.00003
NM_001851.6(COL9A1):c.1197+9T>C rs374375042 0.00003
NM_001851.6(COL9A1):c.1342-15C>G rs200223246 0.00003
NM_001851.6(COL9A1):c.1369G>A (p.Gly457Arg) rs148011193 0.00003
NM_001851.6(COL9A1):c.14+3A>G rs534725462 0.00003
NM_001851.6(COL9A1):c.143G>T (p.Arg48Met) rs368399817 0.00003
NM_001851.6(COL9A1):c.1465G>C (p.Asp489His) rs550014166 0.00003
NM_001851.6(COL9A1):c.167-11C>T rs370460481 0.00003
NM_001851.6(COL9A1):c.1748G>A (p.Gly583Asp) rs765037928 0.00003
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser) rs773380068 0.00003
NM_001851.6(COL9A1):c.2314+18G>T rs777064364 0.00003
NM_001851.6(COL9A1):c.2527C>T (p.Arg843Cys) rs143217938 0.00003
NM_001851.6(COL9A1):c.2721C>T (p.Thr907=) rs567606245 0.00003
NM_001851.6(COL9A1):c.510G>A (p.Ser170=) rs759061294 0.00003
NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr) rs759724577 0.00003
NM_001851.6(COL9A1):c.824G>C (p.Gly275Ala) rs891118219 0.00003
NM_001851.6(COL9A1):c.83G>A (p.Arg28His) rs778243284 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.89-13A>G rs774158109 0.00003
NM_001851.6(COL9A1):c.89-20A>G rs887185388 0.00003
NM_001851.6(COL9A1):c.1036C>T (p.Pro346Ser) rs779666896 0.00002
NM_001851.6(COL9A1):c.116G>T (p.Gly39Val) rs781464240 0.00002
NM_001851.6(COL9A1):c.1197+6T>A rs377762690 0.00002
NM_001851.6(COL9A1):c.1231-19T>C rs936305412 0.00002
NM_001851.6(COL9A1):c.1238A>G (p.Asn413Ser) rs202034701 0.00002
NM_001851.6(COL9A1):c.1256G>A (p.Arg419His) rs757314373 0.00002
NM_001851.6(COL9A1):c.127C>T (p.Leu43Phe) rs372737493 0.00002
NM_001851.6(COL9A1):c.1290T>A (p.Gly430=) rs141904957 0.00002
NM_001851.6(COL9A1):c.131G>C (p.Cys44Ser) rs1375599039 0.00002
NM_001851.6(COL9A1):c.1404G>A (p.Gln468=) rs371743577 0.00002
NM_001851.6(COL9A1):c.1541G>T (p.Gly514Val) rs1176050943 0.00002
NM_001851.6(COL9A1):c.1561G>C (p.Ala521Pro) rs1402008313 0.00002
NM_001851.6(COL9A1):c.1598C>T (p.Pro533Leu) rs768487303 0.00002
NM_001851.6(COL9A1):c.167-4A>G rs374720909 0.00002
NM_001851.6(COL9A1):c.167-9A>G rs367635142 0.00002
NM_001851.6(COL9A1):c.1765-19T>C rs543803249 0.00002
NM_001851.6(COL9A1):c.1852C>T (p.Arg618Ter) rs764469753 0.00002
NM_001851.6(COL9A1):c.1853G>A (p.Arg618Gln) rs761249181 0.00002
NM_001851.6(COL9A1):c.1873-6T>G rs766085405 0.00002
NM_001851.6(COL9A1):c.1905C>T (p.Ser635=) rs1057523934 0.00002
NM_001851.6(COL9A1):c.2007C>T (p.Val669=) rs752045085 0.00002
NM_001851.6(COL9A1):c.2204G>A (p.Arg735Gln) rs769986009 0.00002
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2237T>G (p.Leu746Arg) rs1251807389 0.00002
NM_001851.6(COL9A1):c.2258C>T (p.Pro753Leu) rs763616322 0.00002
NM_001851.6(COL9A1):c.2260-20T>C rs778775136 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001851.6(COL9A1):c.2276A>T (p.Asp759Val) rs752385858 0.00002
NM_001851.6(COL9A1):c.2335G>T (p.Ala779Ser) rs961499099 0.00002
NM_001851.6(COL9A1):c.2520G>A (p.Lys840=) rs1287408615 0.00002
NM_001851.6(COL9A1):c.2528G>A (p.Arg843His) rs547618159 0.00002
NM_001851.6(COL9A1):c.2569A>G (p.Ile857Val) rs768737537 0.00002
NM_001851.6(COL9A1):c.2613T>C (p.Asn871=) rs773848465 0.00002
NM_001851.6(COL9A1):c.342G>A (p.Leu114=) rs887334836 0.00002
NM_001851.6(COL9A1):c.390T>C (p.Ile130=) rs746875780 0.00002
NM_001851.6(COL9A1):c.490C>T (p.Leu164Phe) rs749263101 0.00002
NM_001851.6(COL9A1):c.509C>T (p.Ser170Leu) rs780899445 0.00002
NM_001851.6(COL9A1):c.641T>C (p.Ile214Thr) rs551707191 0.00002
NM_001851.6(COL9A1):c.751A>G (p.Thr251Ala) rs1478081797 0.00002
NM_001851.6(COL9A1):c.780G>T (p.Thr260=) rs374569401 0.00002
NM_001851.6(COL9A1):c.817G>A (p.Glu273Lys) rs374036753 0.00002
NM_001851.6(COL9A1):c.913-8_913-7insA rs768702678 0.00002
NM_001851.6(COL9A1):c.976-5A>G rs762250392 0.00002
NM_001851.6(COL9A1):c.1002T>A (p.Pro334=) rs1057523730 0.00001
NM_001851.6(COL9A1):c.1030-10T>G rs199858681 0.00001
NM_001851.6(COL9A1):c.1030-7T>A rs1276980141 0.00001
NM_001851.6(COL9A1):c.1054C>T (p.Arg352Cys) rs1302609073 0.00001
NM_001851.6(COL9A1):c.1066-12G>A rs1772439706 0.00001
NM_001851.6(COL9A1):c.1105G>T (p.Ala369Ser) rs768904572 0.00001
NM_001851.6(COL9A1):c.1143+48G>T rs559085408 0.00001
NM_001851.6(COL9A1):c.1143+4A>G rs1224302280 0.00001
NM_001851.6(COL9A1):c.1198-11G>A rs769864442 0.00001
NM_001851.6(COL9A1):c.1231-11C>T rs1432311126 0.00001
NM_001851.6(COL9A1):c.1258T>A (p.Ser420Thr) rs971866455 0.00001
NM_001851.6(COL9A1):c.1287+15T>C rs1181914809 0.00001
NM_001851.6(COL9A1):c.1288-12T>G rs774330199 0.00001
NM_001851.6(COL9A1):c.1288-16A>G rs1193379635 0.00001
NM_001851.6(COL9A1):c.1288-8T>C rs188976670 0.00001
NM_001851.6(COL9A1):c.1291C>A (p.His431Asn) rs1411242839 0.00001
NM_001851.6(COL9A1):c.1304A>G (p.Lys435Arg) rs201798341 0.00001
NM_001851.6(COL9A1):c.1317T>C (p.Gly439=) rs372343342 0.00001
NM_001851.6(COL9A1):c.1330C>T (p.Gln444Ter) rs1772042015 0.00001
NM_001851.6(COL9A1):c.133C>A (p.Pro45Thr) rs1293482329 0.00001
NM_001851.6(COL9A1):c.1341+10A>G rs565121413 0.00001
NM_001851.6(COL9A1):c.1341+5G>A rs794727203 0.00001
NM_001851.6(COL9A1):c.1366C>T (p.Leu456Phe) rs751839615 0.00001
NM_001851.6(COL9A1):c.1375G>T (p.Val459Phe) rs1302661247 0.00001
NM_001851.6(COL9A1):c.1394C>T (p.Pro465Leu) rs1354769954 0.00001
NM_001851.6(COL9A1):c.1396-20T>C rs764077236 0.00001
NM_001851.6(COL9A1):c.14+7C>T rs565902591 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.1412G>A (p.Arg471Gln) rs773570789 0.00001
NM_001851.6(COL9A1):c.1458G>C (p.Arg486=) rs569743763 0.00001
NM_001851.6(COL9A1):c.1481C>T (p.Pro494Leu) rs769158574 0.00001
NM_001851.6(COL9A1):c.1491T>C (p.Leu497=) rs1443111926 0.00001
NM_001851.6(COL9A1):c.1515A>G (p.Gly505=) rs201066509 0.00001
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995 0.00001
NM_001851.6(COL9A1):c.1567G>A (p.Gly523Ser) rs1461660189 0.00001
NM_001851.6(COL9A1):c.1596G>A (p.Gly532=) rs145650924 0.00001
NM_001851.6(COL9A1):c.1608C>T (p.Asp536=) rs746848531 0.00001
NM_001851.6(COL9A1):c.1626G>A (p.Val542=) rs1309023861 0.00001
NM_001851.6(COL9A1):c.1633C>T (p.Arg545Cys) rs780405287 0.00001
NM_001851.6(COL9A1):c.1655C>T (p.Pro552Leu) rs753916112 0.00001
NM_001851.6(COL9A1):c.166+12T>C rs886038498 0.00001
NM_001851.6(COL9A1):c.1661C>A (p.Thr554Lys) rs1771183436 0.00001
NM_001851.6(COL9A1):c.1665+20C>G rs1388265270 0.00001
NM_001851.6(COL9A1):c.1665+2T>C rs759460647 0.00001
NM_001851.6(COL9A1):c.1666-12C>T rs770848977 0.00001
NM_001851.6(COL9A1):c.1666-13G>A rs774334207 0.00001
NM_001851.6(COL9A1):c.1666-18T>C rs752952751 0.00001
NM_001851.6(COL9A1):c.1701A>G (p.Ala567=) rs1057523729 0.00001
NM_001851.6(COL9A1):c.1720-6T>C rs1175744648 0.00001
NM_001851.6(COL9A1):c.1817C>T (p.Pro606Leu) rs151066293 0.00001
NM_001851.6(COL9A1):c.1818G>A (p.Pro606=) rs1296099818 0.00001
NM_001851.6(COL9A1):c.1872+17G>A rs771191521 0.00001
NM_001851.6(COL9A1):c.1926+12A>G rs774435530 0.00001
NM_001851.6(COL9A1):c.1926+6T>G rs372289111 0.00001
NM_001851.6(COL9A1):c.1927-13T>G rs758066902 0.00001
NM_001851.6(COL9A1):c.1928G>T (p.Gly643Val) rs1770293261 0.00001
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg) rs200194450 0.00001
NM_001851.6(COL9A1):c.194T>C (p.Val65Ala) rs371407785 0.00001
NM_001851.6(COL9A1):c.1966C>T (p.Pro656Ser) rs773476642 0.00001
NM_001851.6(COL9A1):c.2003T>C (p.Val668Ala) rs1199161003 0.00001
NM_001851.6(COL9A1):c.2006T>G (p.Val669Gly) rs1231559197 0.00001
NM_001851.6(COL9A1):c.2015C>T (p.Pro672Leu) rs765463295 0.00001
NM_001851.6(COL9A1):c.2040C>A (p.Ala680=) rs1483676538 0.00001
NM_001851.6(COL9A1):c.2106G>A (p.Lys702=) rs774146890 0.00001
NM_001851.6(COL9A1):c.2146C>T (p.Pro716Ser) rs977443998 0.00001
NM_001851.6(COL9A1):c.2150A>C (p.Glu717Ala) rs955449925 0.00001
NM_001851.6(COL9A1):c.2158C>T (p.Arg720Trp) rs750991236 0.00001
NM_001851.6(COL9A1):c.2241T>C (p.Pro747=) rs201479028 0.00001
NM_001851.6(COL9A1):c.2243G>T (p.Gly748Val) rs368781924 0.00001
NM_001851.6(COL9A1):c.2260-3C>T rs1305147526 0.00001
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val) rs767229176 0.00001
NM_001851.6(COL9A1):c.2340T>C (p.Ser780=) rs754706930 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001851.6(COL9A1):c.2416G>C (p.Glu806Gln) rs1391517875 0.00001
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu) rs144581626 0.00001
NM_001851.6(COL9A1):c.2457G>A (p.Pro819=) rs757620185 0.00001
NM_001851.6(COL9A1):c.2504-19T>C rs537226988 0.00001
NM_001851.6(COL9A1):c.2537C>G (p.Pro846Arg) rs201978369 0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.2582-3C>T rs760704462 0.00001
NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser) rs745421286 0.00001
NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter) rs758388716 0.00001
NM_001851.6(COL9A1):c.2643G>A (p.Gly881=) rs1031413732 0.00001
NM_001851.6(COL9A1):c.2676G>A (p.Pro892=) rs199845159 0.00001
NM_001851.6(COL9A1):c.2694C>T (p.Pro898=) rs370324739 0.00001
NM_001851.6(COL9A1):c.2711C>G (p.Ala904Gly) rs1028844209 0.00001
NM_001851.6(COL9A1):c.2723T>C (p.Met908Thr) rs1412263011 0.00001
NM_001851.6(COL9A1):c.2737C>T (p.Arg913Ter) rs145221543 0.00001
NM_001851.6(COL9A1):c.285C>T (p.Phe95=) rs1226347511 0.00001
NM_001851.6(COL9A1):c.300-17T>C rs756874626 0.00001
NM_001851.6(COL9A1):c.300-19A>G rs778535269 0.00001
NM_001851.6(COL9A1):c.300-8T>G rs1402665528 0.00001
NM_001851.6(COL9A1):c.317G>A (p.Gly106Glu) rs142447527 0.00001
NM_001851.6(COL9A1):c.340T>G (p.Leu114Val) rs769945785 0.00001
NM_001851.6(COL9A1):c.347C>T (p.Thr116Met) rs768503089 0.00001
NM_001851.6(COL9A1):c.357G>T (p.Met119Ile) rs753433014 0.00001
NM_001851.6(COL9A1):c.403G>A (p.Asp135Asn) rs774360157 0.00001
NM_001851.6(COL9A1):c.410C>T (p.Ser137Phe) rs1773776302 0.00001
NM_001851.6(COL9A1):c.437T>G (p.Ile146Ser) rs780230984 0.00001
NM_001851.6(COL9A1):c.441T>G (p.Asn147Lys) rs375575411 0.00001
NM_001851.6(COL9A1):c.456T>C (p.Ser152=) rs757899425 0.00001
NM_001851.6(COL9A1):c.503C>G (p.Ala168Gly) rs199822035 0.00001
NM_001851.6(COL9A1):c.522C>T (p.Ser174=) rs757811518 0.00001
NM_001851.6(COL9A1):c.531T>C (p.Asp177=) rs754428636 0.00001
NM_001851.6(COL9A1):c.558C>T (p.Gly186=) rs190204582 0.00001
NM_001851.6(COL9A1):c.567G>T (p.Arg189Ser) rs1296736202 0.00001
NM_001851.6(COL9A1):c.578C>T (p.Thr193Ile) rs1366088068 0.00001
NM_001851.6(COL9A1):c.604G>A (p.Glu202Lys) rs779384045 0.00001
NM_001851.6(COL9A1):c.621G>A (p.Lys207=) rs374217818 0.00001
NM_001851.6(COL9A1):c.624A>G (p.Pro208=) rs1554247859 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001851.6(COL9A1):c.696+20C>T rs1204924376 0.00001
NM_001851.6(COL9A1):c.721C>T (p.His241Tyr) rs762463023 0.00001
NM_001851.6(COL9A1):c.755G>A (p.Cys252Tyr) rs1001980199 0.00001
NM_001851.6(COL9A1):c.759T>A (p.His253Gln) rs1264012472 0.00001
NM_001851.6(COL9A1):c.779C>A (p.Thr260Lys) rs1269362157 0.00001
NM_001851.6(COL9A1):c.780+19T>C rs991221951 0.00001
NM_001851.6(COL9A1):c.801+12G>A rs201713797 0.00001
NM_001851.6(COL9A1):c.801+20T>C rs760139240 0.00001
NM_001851.6(COL9A1):c.801+9G>C rs1562325729 0.00001
NM_001851.6(COL9A1):c.802-20A>G rs372745212 0.00001
NM_001851.6(COL9A1):c.806G>T (p.Gly269Val) rs752119760 0.00001
NM_001851.6(COL9A1):c.809C>A (p.Pro270His) rs1032154290 0.00001
NM_001851.6(COL9A1):c.876C>T (p.Asp292=) rs199570724 0.00001
NM_001851.6(COL9A1):c.877G>A (p.Gly293Ser) rs780415209 0.00001
NM_001851.6(COL9A1):c.88+1G>A rs377760437 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001851.6(COL9A1):c.88A>G (p.Arg30Gly) rs375052968 0.00001
NM_001851.6(COL9A1):c.890C>T (p.Pro297Leu) rs746311583 0.00001
NM_001851.6(COL9A1):c.912G>A (p.Pro304=) rs751410284 0.00001
NM_001851.6(COL9A1):c.921A>T (p.Ala307=) rs1398982856 0.00001
NM_001851.6(COL9A1):c.930G>A (p.Pro310=) rs1441320695 0.00001
NM_001851.6(COL9A1):c.964C>G (p.Pro322Ala) rs1773107843 0.00001
NM_001851.6(COL9A1):c.968G>T (p.Gly323Val) rs1005971460 0.00001
NM_001851.6(COL9A1):c.971C>G (p.Ala324Gly) rs750301684 0.00001
NM_001851.6(COL9A1):c.975+13G>A rs886999008 0.00001
NM_001851.6(COL9A1):c.976-14T>C rs759269039 0.00001
NM_001851.6(COL9A1):c.999C>T (p.Ser333=) rs1034787678 0.00001
GRCh37/hg19 6q13(chr6:71000209-71059571)x3
NC_000006.11:g.(?_70926600)_(70973020_?)del
NC_000006.11:g.(?_70926600)_(70993543_?)del
NC_000006.11:g.(?_71011684)_(71012627_?)del
NC_000006.12:g.70255204dup rs2127576931
NC_000006.12:g.70281005GGGGGGCCC[3] rs747511400
NM_001851.6(COL9A1):c.*241_*242dup rs3215859
NM_001851.6(COL9A1):c.*242del rs3215859
NM_001851.6(COL9A1):c.*242dup rs3215859
NM_001851.6(COL9A1):c.*247dup rs886061694
NM_001851.6(COL9A1):c.1006T>C (p.Ser336Pro)
NM_001851.6(COL9A1):c.1011T>C (p.Ile337=) rs1772640862
NM_001851.6(COL9A1):c.1013G>A (p.Gly338Glu) rs778526641
NM_001851.6(COL9A1):c.101A>G (p.Asn34Ser) rs919833388
NM_001851.6(COL9A1):c.1020G>A (p.Lys340=) rs1275426077
NM_001851.6(COL9A1):c.1029+170del rs201080821
NM_001851.6(COL9A1):c.1029+19A>G rs893767501
NM_001851.6(COL9A1):c.1029+3_1029+6del rs1772637811
NM_001851.6(COL9A1):c.1029+4dup rs2127592864
NM_001851.6(COL9A1):c.1030-104del rs34897704
NM_001851.6(COL9A1):c.1030-13T>C
NM_001851.6(COL9A1):c.1030-166del rs35211615
NM_001851.6(COL9A1):c.1030-16C>G
NM_001851.6(COL9A1):c.1030-17A>G
NM_001851.6(COL9A1):c.1030-20G>A rs16868897
NM_001851.6(COL9A1):c.1036C>A (p.Pro346Thr) rs779666896
NM_001851.6(COL9A1):c.1039G>C (p.Gly347Arg)
NM_001851.6(COL9A1):c.1040G>C (p.Gly347Ala) rs764474418
NM_001851.6(COL9A1):c.1040G>T (p.Gly347Val) rs764474418
NM_001851.6(COL9A1):c.1042G>A (p.Val348Met)
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter) rs201035486
NM_001851.6(COL9A1):c.1052C>T (p.Ser351Leu)
NM_001851.6(COL9A1):c.1059A>G (p.Gly353=) rs2127592358
NM_001851.6(COL9A1):c.1065+16G>T
NM_001851.6(COL9A1):c.1065+74TATT[10] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[11] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[5] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[7] rs71309305
NM_001851.6(COL9A1):c.1065+74TATT[9] rs71309305
NM_001851.6(COL9A1):c.1065+74_1065+75insTTTTTTTATTTA rs763708723
NM_001851.6(COL9A1):c.1066-18T>C
NM_001851.6(COL9A1):c.1066-1G>T
NM_001851.6(COL9A1):c.1066-238del rs34456949
NM_001851.6(COL9A1):c.1068C>A (p.Gly356=)
NM_001851.6(COL9A1):c.1069C>T (p.Arg357Cys)
NM_001851.6(COL9A1):c.1071_1072inv (p.Gly358Ser)
NM_001851.6(COL9A1):c.1083A>C (p.Gly361=) rs1174463957
NM_001851.6(COL9A1):c.1083A>G (p.Gly361=) rs1174463957
NM_001851.6(COL9A1):c.1084C>T (p.Pro362Ser)
NM_001851.6(COL9A1):c.1085C>G (p.Pro362Arg) rs374255811
NM_001851.6(COL9A1):c.1085C>T (p.Pro362Leu) rs374255811
NM_001851.6(COL9A1):c.1089+11C>T rs1554243437
NM_001851.6(COL9A1):c.1089+173_1089+176del rs746896336
NM_001851.6(COL9A1):c.1089+18A>G
NM_001851.6(COL9A1):c.1090-13T>G rs2127590831
NM_001851.6(COL9A1):c.1091G>A (p.Gly364Asp)
NM_001851.6(COL9A1):c.1093C>T (p.Pro365Ser) rs2127590823
NM_001851.6(COL9A1):c.1101G>A (p.Gly367=) rs781559365
NM_001851.6(COL9A1):c.1102A>G (p.Thr368Ala) rs1421369706
NM_001851.6(COL9A1):c.1104A>T (p.Thr368=) rs1458754255
NM_001851.6(COL9A1):c.1113C>A (p.Leu371=) rs1298969461
NM_001851.6(COL9A1):c.111T>C (p.Ser37=)
NM_001851.6(COL9A1):c.1124T>C (p.Leu375Pro) rs1405862928
NM_001851.6(COL9A1):c.1129C>T (p.Arg377Cys)
NM_001851.6(COL9A1):c.1134A>G (p.Val378=)
NM_001851.6(COL9A1):c.1138C>A (p.Pro380Thr)
NM_001851.6(COL9A1):c.1141G>C (p.Val381Leu)
NM_001851.6(COL9A1):c.1143+10A>C
NM_001851.6(COL9A1):c.1143+13G>A
NM_001851.6(COL9A1):c.1143+14T>C rs1562317487
NM_001851.6(COL9A1):c.1143+14T>G rs1562317487
NM_001851.6(COL9A1):c.1143+14_1143+15insACTTGATA
NM_001851.6(COL9A1):c.1143+1G>A rs1490405035
NM_001851.6(COL9A1):c.1143+4A>T rs1224302280
NM_001851.6(COL9A1):c.1189G>A (p.Gly397Arg)
NM_001851.6(COL9A1):c.1197+11T>G
NM_001851.6(COL9A1):c.1197+15G>T
NM_001851.6(COL9A1):c.1197+19G>C
NM_001851.6(COL9A1):c.1198-10T>C
NM_001851.6(COL9A1):c.1198-1G>C
NM_001851.6(COL9A1):c.1198-223G>A rs6914074
NM_001851.6(COL9A1):c.1198-6_1198-2del rs2127589264
NM_001851.6(COL9A1):c.1204A>C (p.Ile402Leu) rs2127589256
NM_001851.6(COL9A1):c.1215T>C (p.His405=) rs1772265133
NM_001851.6(COL9A1):c.1218T>G (p.Asp406Glu) rs909640170
NM_001851.6(COL9A1):c.1220G>A (p.Gly407Glu)
NM_001851.6(COL9A1):c.1225C>A (p.Pro409Thr) rs924516350
NM_001851.6(COL9A1):c.1230+12_1230+13delinsCT
NM_001851.6(COL9A1):c.1230+20A>G
NM_001851.6(COL9A1):c.1230+53C>A rs549742
NM_001851.6(COL9A1):c.1230+53C>T rs549742
NM_001851.6(COL9A1):c.1230+5G>C rs990543556
NM_001851.6(COL9A1):c.1230+7T>C
NM_001851.6(COL9A1):c.1231-13C>T
NM_001851.6(COL9A1):c.1231-17C>G
NM_001851.6(COL9A1):c.1231-17C>T
NM_001851.6(COL9A1):c.1231-8C>G
NM_001851.6(COL9A1):c.1231-9C>T
NM_001851.6(COL9A1):c.1232G>A (p.Cys411Tyr)
NM_001851.6(COL9A1):c.1234C>T (p.Pro412Ser) rs2127588500
NM_001851.6(COL9A1):c.123T>A (p.Asn41Lys) rs905464646
NM_001851.6(COL9A1):c.1240G>T (p.Ala414Ser) rs1772210895
NM_001851.6(COL9A1):c.1247C>T (p.Pro416Leu)
NM_001851.6(COL9A1):c.1251A>G (p.Pro417=)
NM_001851.6(COL9A1):c.1252G>A (p.Gly418Ser)
NM_001851.6(COL9A1):c.1257C>T (p.Arg419=) rs1772207548
NM_001851.6(COL9A1):c.1263A>T (p.Gly421=)
NM_001851.6(COL9A1):c.1266T>A (p.Tyr422Ter) rs868122313
NM_001851.6(COL9A1):c.1273C>G (p.Leu425Val)
NM_001851.6(COL9A1):c.1276C>T (p.Pro426Ser)
NM_001851.6(COL9A1):c.1279G>A (p.Gly427Ser) rs2127588403
NM_001851.6(COL9A1):c.1287+16C>T
NM_001851.6(COL9A1):c.1287+2T>C
NM_001851.6(COL9A1):c.1287+5G>A
NM_001851.6(COL9A1):c.1287+7G>C
NM_001851.6(COL9A1):c.1287+7G>T rs750833333
NM_001851.6(COL9A1):c.1288-117A>G rs3818575
NM_001851.6(COL9A1):c.1308A>G (p.Gly436=) rs375192821
NM_001851.6(COL9A1):c.1312A>G (p.Ile438Val) rs138518556
NM_001851.6(COL9A1):c.1326A>G (p.Gly442=) rs2127586252
NM_001851.6(COL9A1):c.1336C>T (p.His446Tyr)
NM_001851.6(COL9A1):c.1341+18T>G rs1772039300
NM_001851.6(COL9A1):c.1341+20A>T rs2127586199
NM_001851.6(COL9A1):c.1341+4A>G rs1772040993
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1342-15C>T
NM_001851.6(COL9A1):c.1342-16dup rs759288929
NM_001851.6(COL9A1):c.1342-18T>C
NM_001851.6(COL9A1):c.1342-18_1342-16del rs759288929
NM_001851.6(COL9A1):c.1342-27C>T rs77621199
NM_001851.6(COL9A1):c.1342-27CTTTT[3] rs543377381
NM_001851.6(COL9A1):c.1342-6C>T
NM_001851.6(COL9A1):c.1342-9T>C
NM_001851.6(COL9A1):c.1352G>A (p.Gly451Asp) rs1771811070
NM_001851.6(COL9A1):c.1353T>C (p.Gly451=)
NM_001851.6(COL9A1):c.1355A>G (p.Asp452Gly) rs2127583225
NM_001851.6(COL9A1):c.135A>G (p.Pro45=) rs750588718
NM_001851.6(COL9A1):c.1365A>T (p.Glu455Asp) rs1468996914
NM_001851.6(COL9A1):c.1391C>A (p.Pro464His) rs1554240668
NM_001851.6(COL9A1):c.1395+133C>T rs12194091
NM_001851.6(COL9A1):c.1395+20del rs769058356
NM_001851.6(COL9A1):c.1396-138TA[7] rs561603196
NM_001851.6(COL9A1):c.1396-19C>A
NM_001851.6(COL9A1):c.1396-19_1396-15del
NM_001851.6(COL9A1):c.1396-6T>C rs1360782538
NM_001851.6(COL9A1):c.1396-88T>C rs12210870
NM_001851.6(COL9A1):c.14+1G>C
NM_001851.6(COL9A1):c.14+9A>C rs747649242
NM_001851.6(COL9A1):c.1403A>T (p.Gln468Leu)
NM_001851.6(COL9A1):c.140T>C (p.Ile47Thr) rs1774015865
NM_001851.6(COL9A1):c.1414G>A (p.Gly472Ser)
NM_001851.6(COL9A1):c.1418T>C (p.Ile473Thr)
NM_001851.6(COL9A1):c.1422C>T (p.Thr474=) rs540419799
NM_001851.6(COL9A1):c.1427_1449+17dup
NM_001851.6(COL9A1):c.1430T>C (p.Val477Ala)
NM_001851.6(COL9A1):c.1449+108del rs34147259
NM_001851.6(COL9A1):c.1449+10T>A
NM_001851.6(COL9A1):c.1449+11G>A
NM_001851.6(COL9A1):c.1449+91dup rs34147259
NM_001851.6(COL9A1):c.1450-1G>T
NM_001851.6(COL9A1):c.1450-228A>T rs1711728
NM_001851.6(COL9A1):c.1450-229_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-231_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-232_1450-228del rs542296705
NM_001851.6(COL9A1):c.1450-255dup rs542296705
NM_001851.6(COL9A1):c.1450-4G>A
NM_001851.6(COL9A1):c.1450-5dup rs751315083
NM_001851.6(COL9A1):c.1450G>A (p.Gly484Ser) rs1771329366
NM_001851.6(COL9A1):c.1456C>T (p.Arg486Trp) rs752641733
NM_001851.6(COL9A1):c.1457G>A (p.Arg486Gln)
NM_001851.6(COL9A1):c.1467T>C (p.Asp489=)
NM_001851.6(COL9A1):c.1474C>A (p.Pro492Thr)
NM_001851.6(COL9A1):c.1475C>T (p.Pro492Leu)
NM_001851.6(COL9A1):c.1486G>C (p.Gly496Arg)
NM_001851.6(COL9A1):c.1494T>A (p.Pro498=)
NM_001851.6(COL9A1):c.1498G>A (p.Ala500Thr)
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001851.6(COL9A1):c.15-131del rs202054376
NM_001851.6(COL9A1):c.15-132_15-131del rs202054376
NM_001851.6(COL9A1):c.15-139_15-131del rs202054376
NM_001851.6(COL9A1):c.15-153_15-149dup rs202054376
NM_001851.6(COL9A1):c.15-153_15-152dup rs202054376
NM_001851.6(COL9A1):c.15-153dup rs202054376
NM_001851.6(COL9A1):c.15-2A>T
NM_001851.6(COL9A1):c.1503+37dup rs34557832
NM_001851.6(COL9A1):c.1503+49del rs34557832
NM_001851.6(COL9A1):c.1503+6T>C
NM_001851.6(COL9A1):c.1504-17A>G
NM_001851.6(COL9A1):c.1504-17A>T rs1771216881
NM_001851.6(COL9A1):c.1504G>C (p.Gly502Arg) rs774226488
NM_001851.6(COL9A1):c.1505G>T (p.Gly502Val) rs376101677
NM_001851.6(COL9A1):c.1508A>G (p.Asp503Gly)
NM_001851.6(COL9A1):c.1519C>A (p.Arg507=) rs189754995
NM_001851.6(COL9A1):c.1520G>A (p.Arg507Gln) rs777963373
NM_001851.6(COL9A1):c.1530A>G (p.Pro510=) rs770038405
NM_001851.6(COL9A1):c.1538C>T (p.Ala513Val) rs1221404677
NM_001851.6(COL9A1):c.153A>G (p.Gln51=)
NM_001851.6(COL9A1):c.1546A>G (p.Lys516Glu) rs1064796345
NM_001851.6(COL9A1):c.154G>C (p.Asp52His)
NM_001851.6(COL9A1):c.1557+6T>C rs1057518423
NM_001851.6(COL9A1):c.1558-11C>T
NM_001851.6(COL9A1):c.1558-13T>A
NM_001851.6(COL9A1):c.1558-5T>C
NM_001851.6(COL9A1):c.1558-7C>T
NM_001851.6(COL9A1):c.1559G>A (p.Gly520Glu)
NM_001851.6(COL9A1):c.155A>T (p.Asp52Val) rs886044243
NM_001851.6(COL9A1):c.1560G>T (p.Gly520=)
NM_001851.6(COL9A1):c.1562C>A (p.Ala521Asp)
NM_001851.6(COL9A1):c.1586G>A (p.Gly529Asp)
NM_001851.6(COL9A1):c.15G>T (p.Trp5Cys) rs746596955
NM_001851.6(COL9A1):c.1611+12G>A
NM_001851.6(COL9A1):c.1611+6T>C rs1771197044
NM_001851.6(COL9A1):c.1612-12G>A
NM_001851.6(COL9A1):c.1618C>T (p.Pro540Ser)
NM_001851.6(COL9A1):c.1622G>A (p.Gly541Asp) rs755767798
NM_001851.6(COL9A1):c.1623dup (p.Val542fs)
NM_001851.6(COL9A1):c.1627G>C (p.Asp543His) rs1771186677
NM_001851.6(COL9A1):c.163C>T (p.Pro55Ser) rs1489422710
NM_001851.6(COL9A1):c.1640G>A (p.Gly547Glu) rs1427326341
NM_001851.6(COL9A1):c.1640G>T (p.Gly547Val)
NM_001851.6(COL9A1):c.166+3G>A
NM_001851.6(COL9A1):c.166+50dup rs371900114
NM_001851.6(COL9A1):c.166+60del rs371900114
NM_001851.6(COL9A1):c.166+7A>G rs2127608476
NM_001851.6(COL9A1):c.166+8G>A
NM_001851.6(COL9A1):c.1665+13A>T rs748805630
NM_001851.6(COL9A1):c.1666-16A>G rs2127576389
NM_001851.6(COL9A1):c.1668_1671dup (p.Pro558Ter) rs2127576361
NM_001851.6(COL9A1):c.1668del (p.Glu557fs)
NM_001851.6(COL9A1):c.167-9A>T rs367635142
NM_001851.6(COL9A1):c.1673C>T (p.Pro558Leu)
NM_001851.6(COL9A1):c.167G>A (p.Gly56Glu) rs2127608373
NM_001851.6(COL9A1):c.1695T>C (p.Gly565=)
NM_001851.6(COL9A1):c.1697A>T (p.Asp566Val)
NM_001851.6(COL9A1):c.1707G>A (p.Leu569=)
NM_001851.6(COL9A1):c.1708C>T (p.Gln570Ter) rs1562305261
NM_001851.6(COL9A1):c.1714T>C (p.Leu572=)
NM_001851.6(COL9A1):c.1719+11G>T
NM_001851.6(COL9A1):c.1719+20C>T rs2127576297
NM_001851.6(COL9A1):c.1719+2T>C
NM_001851.6(COL9A1):c.1719+3A>G
NM_001851.6(COL9A1):c.171del (p.Phe57fs) rs1554248926
NM_001851.6(COL9A1):c.1720-2A>G
NM_001851.6(COL9A1):c.1720-3T>C
NM_001851.6(COL9A1):c.1724T>C (p.Val575Ala)
NM_001851.6(COL9A1):c.1728T>A (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1728T>C (p.Pro576=)
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1730G>T (p.Gly577Val) rs1771075075
NM_001851.6(COL9A1):c.1749T>A (p.Gly583=)
NM_001851.6(COL9A1):c.1751T>C (p.Val584Ala)
NM_001851.6(COL9A1):c.175C>A (p.Leu59Met) rs151310170
NM_001851.6(COL9A1):c.175C>T (p.Leu59=) rs151310170
NM_001851.6(COL9A1):c.1760A>G (p.Glu587Gly) rs2127575414
NM_001851.6(COL9A1):c.1764+15A>C
NM_001851.6(COL9A1):c.1765-11T>G rs2127574645
NM_001851.6(COL9A1):c.1765-13A>T
NM_001851.6(COL9A1):c.1765-16T>C
NM_001851.6(COL9A1):c.1765-21G>A rs2274584
NM_001851.6(COL9A1):c.1765-21_1765-20delinsAG rs2127574655
NM_001851.6(COL9A1):c.1765-5C>T rs1770995491
NM_001851.6(COL9A1):c.1765-6C>T rs750146995
NM_001851.6(COL9A1):c.1765G>A (p.Gly589Ser)
NM_001851.6(COL9A1):c.1771A>G (p.Thr591Ala) rs1348618819
NM_001851.6(COL9A1):c.1778C>G (p.Ala593Gly)
NM_001851.6(COL9A1):c.1782A>G (p.Pro594=)
NM_001851.6(COL9A1):c.1788G>C (p.Lys596Asn)
NM_001851.6(COL9A1):c.1803A>G (p.Gly601=) rs936178403
NM_001851.6(COL9A1):c.1807T>A (p.Ser603Thr) rs1398491945
NM_001851.6(COL9A1):c.1808C>T (p.Ser603Leu) rs2127574590
NM_001851.6(COL9A1):c.1811G>A (p.Gly604Asp)
NM_001851.6(COL9A1):c.1812C>T (p.Gly604=)
NM_001851.6(COL9A1):c.1817del (p.Pro606fs) rs769918278
NM_001851.6(COL9A1):c.1818+12T>G
NM_001851.6(COL9A1):c.1818+19del rs1562303489
NM_001851.6(COL9A1):c.1819-10C>G
NM_001851.6(COL9A1):c.1819-11C>A
NM_001851.6(COL9A1):c.1819-15C>A
NM_001851.6(COL9A1):c.1830G>A (p.Gly610=) rs1414945380
NM_001851.6(COL9A1):c.1830G>T (p.Gly610=) rs1414945380
NM_001851.6(COL9A1):c.1838G>A (p.Gly613Glu) rs886044124
NM_001851.6(COL9A1):c.1847G>C (p.Gly616Ala) rs1562303379
NM_001851.6(COL9A1):c.1859C>T (p.Pro620Leu)
NM_001851.6(COL9A1):c.1860C>T (p.Pro620=) rs2127574450
NM_001851.6(COL9A1):c.1861_1862inv (p.Gln621Trp)
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
NM_001851.6(COL9A1):c.186G>C (p.Gln62His)
NM_001851.6(COL9A1):c.1872+15C>A
NM_001851.6(COL9A1):c.1872+15C>T rs2127574422
NM_001851.6(COL9A1):c.1872+20C>T
NM_001851.6(COL9A1):c.1873-15T>C rs1256564368
NM_001851.6(COL9A1):c.1873-16G>A rs1770344577
NM_001851.6(COL9A1):c.1877del (p.Ser626fs) rs2127566670
NM_001851.6(COL9A1):c.1878T>C (p.Ser626=)
NM_001851.6(COL9A1):c.1889T>G (p.Leu630Ter)
NM_001851.6(COL9A1):c.188del (p.Phe63fs) rs1057519130
NM_001851.6(COL9A1):c.1891G>T (p.Gly631Ter) rs1562297755
NM_001851.6(COL9A1):c.1898T>G (p.Val633Gly)
NM_001851.6(COL9A1):c.1904C>A (p.Ser635Tyr) rs2127566645
NM_001851.6(COL9A1):c.190C>T (p.Gln64Ter)
NM_001851.6(COL9A1):c.1912C>T (p.Leu638=) rs1012515482
NM_001851.6(COL9A1):c.1925T>A (p.Leu642Gln) rs1357867750
NM_001851.6(COL9A1):c.1926+13G>T rs1184031446
NM_001851.6(COL9A1):c.1926+6T>C rs372289111
NM_001851.6(COL9A1):c.1927-13T>C
NM_001851.6(COL9A1):c.1927-1G>A
NM_001851.6(COL9A1):c.1933C>T (p.Leu645=)
NM_001851.6(COL9A1):c.1933del (p.Leu645fs) rs2127565932
NM_001851.6(COL9A1):c.1942C>G (p.Pro648Ala)
NM_001851.6(COL9A1):c.1942C>T (p.Pro648Ser)
NM_001851.6(COL9A1):c.1948C>T (p.Leu650Phe) rs1269618884
NM_001851.6(COL9A1):c.1952C>A (p.Pro651His) rs139305174
NM_001851.6(COL9A1):c.1956C>T (p.Gly652=)
NM_001851.6(COL9A1):c.1956_1964del (p.650LPG[1]) rs777456489
NM_001851.6(COL9A1):c.1963G>T (p.Gly655Trp) rs2127565874
NM_001851.6(COL9A1):c.1965dup (p.Pro656fs) rs1064797325
NM_001851.6(COL9A1):c.1966C>A (p.Pro656Thr) rs773476642
NM_001851.6(COL9A1):c.1970dup (p.Gly658fs) rs1322800124
NM_001851.6(COL9A1):c.1976T>G (p.Leu659Arg) rs1770287143
NM_001851.6(COL9A1):c.198T>C (p.Asp66=) rs1470852189
NM_001851.6(COL9A1):c.1997G>A (p.Arg666Lys) rs1425493186
NM_001851.6(COL9A1):c.1999-12T>G
NM_001851.6(COL9A1):c.1999-13T>C
NM_001851.6(COL9A1):c.1999-17T>C
NM_001851.6(COL9A1):c.1999-17del
NM_001851.6(COL9A1):c.1999-3C>T rs886061697
NM_001851.6(COL9A1):c.1999-7A>G
NM_001851.6(COL9A1):c.2002G>A (p.Val668Ile)
NM_001851.6(COL9A1):c.2015_2032del (p.Pro672_Glu677del) rs2127565324
NM_001851.6(COL9A1):c.2017G>A (p.Gly673Ser)
NM_001851.6(COL9A1):c.2034+11T>C
NM_001851.6(COL9A1):c.2034+13_2034+15del rs746643692
NM_001851.6(COL9A1):c.2034+14T>C rs768557935
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001851.6(COL9A1):c.2034+19T>G rs13202029
NM_001851.6(COL9A1):c.2034+1G>C
NM_001851.6(COL9A1):c.2034+20T>C rs2127565309
NM_001851.6(COL9A1):c.2034+243C>G rs77858709
NM_001851.6(COL9A1):c.2035-161del rs11286026
NM_001851.6(COL9A1):c.2035-6T>A rs1770205046
NM_001851.6(COL9A1):c.2035-8A>C
NM_001851.6(COL9A1):c.2036G>A (p.Gly679Asp) rs2127564614
NM_001851.6(COL9A1):c.2039C>G (p.Ala680Gly) rs1036563613
NM_001851.6(COL9A1):c.2039C>T (p.Ala680Val)
NM_001851.6(COL9A1):c.2040C>G (p.Ala680=) rs1483676538
NM_001851.6(COL9A1):c.2059G>T (p.Ala687Ser)
NM_001851.6(COL9A1):c.2074G>A (p.Glu692Lys)
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.2076A>T (p.Glu692Asp) rs557157592
NM_001851.6(COL9A1):c.2079+16del rs552585742
NM_001851.6(COL9A1):c.2079+59TA[7] rs10686639
NM_001851.6(COL9A1):c.2079+7dup rs552585742
NM_001851.6(COL9A1):c.2079+80_2079+81del rs200426063
NM_001851.6(COL9A1):c.2079+94_2079+95insTGTATA rs10587444
NM_001851.6(COL9A1):c.2079+95AT[10] rs57686729
NM_001851.6(COL9A1):c.2079+95AT[7] rs57686729
NM_001851.6(COL9A1):c.2080-17T>A
NM_001851.6(COL9A1):c.2087T>C (p.Ile696Thr) rs1562295675
NM_001851.6(COL9A1):c.2088A>G (p.Ile696Met) rs1770101448
NM_001851.6(COL9A1):c.2097T>A (p.Pro699=) rs1055153910
NM_001851.6(COL9A1):c.2112+105dup rs34540808
NM_001851.6(COL9A1):c.2112+10G>T
NM_001851.6(COL9A1):c.2112+115del rs34540808
NM_001851.6(COL9A1):c.2112+17G>A
NM_001851.6(COL9A1):c.2112+4A>G
NM_001851.6(COL9A1):c.2112+8T>A rs766377239
NM_001851.6(COL9A1):c.2113-12A>G rs184749864
NM_001851.6(COL9A1):c.2113-4C>T rs1554234147
NM_001851.6(COL9A1):c.2121T>A (p.Asn707Lys) rs1197989118
NM_001851.6(COL9A1):c.2127G>A (p.Gly709=)
NM_001851.6(COL9A1):c.2132C>G (p.Pro711Arg) rs1032780767
NM_001851.6(COL9A1):c.2139G>C (p.Leu713Phe) rs886061696
NM_001851.6(COL9A1):c.2145G>C (p.Gly715=)
NM_001851.6(COL9A1):c.2147C>T (p.Pro716Leu)
NM_001851.6(COL9A1):c.2148T>C (p.Pro716=)
NM_001851.6(COL9A1):c.2159G>T (p.Arg720Leu) rs192467838
NM_001851.6(COL9A1):c.215G>A (p.Arg72Lys)
NM_001851.6(COL9A1):c.2162G>T (p.Gly721Val) rs774807480
NM_001851.6(COL9A1):c.2163G>T (p.Gly721=)
NM_001851.6(COL9A1):c.2170G>A (p.Gly724Arg)
NM_001851.6(COL9A1):c.2174T>A (p.Val725Glu)
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala) rs1428416801
NM_001851.6(COL9A1):c.2175G>A (p.Val725=)
NM_001851.6(COL9A1):c.2177A>G (p.Glu726Gly)
NM_001851.6(COL9A1):c.2183C>G (p.Pro728Arg)
NM_001851.6(COL9A1):c.2183C>T (p.Pro728Leu) rs1029245584
NM_001851.6(COL9A1):c.2192C>T (p.Pro731Leu) rs1769801422
NM_001851.6(COL9A1):c.2193_2201del (p.Pro732_Pro734del) rs1769800333
NM_001851.6(COL9A1):c.219T>C (p.Ala73=) rs1764020540
NM_001851.6(COL9A1):c.2203C>G (p.Arg735Gly) rs148695653
NM_001851.6(COL9A1):c.2203C>T (p.Arg735Trp) rs148695653
NM_001851.6(COL9A1):c.2205G>A (p.Arg735=) rs1005817817
NM_001851.6(COL9A1):c.2208T>C (p.Gly736=)
NM_001851.6(COL9A1):c.2209G>T (p.Val737Leu) rs2127559780
NM_001851.6(COL9A1):c.2225G>A (p.Gly742Asp) rs1206093741
NM_001851.6(COL9A1):c.2225G>T (p.Gly742Val)
NM_001851.6(COL9A1):c.2232C>A (p.Thr744=)
NM_001851.6(COL9A1):c.2232C>T (p.Thr744=) rs751249539
NM_001851.6(COL9A1):c.2233G>A (p.Gly745Ser)
NM_001851.6(COL9A1):c.2248C>T (p.Gln750Ter) rs887513791
NM_001851.6(COL9A1):c.2250G>T (p.Gln750His)
NM_001851.6(COL9A1):c.2253C>A (p.Gly751=) rs753370035
NM_001851.6(COL9A1):c.2253C>T (p.Gly751=) rs753370035
NM_001851.6(COL9A1):c.2255C>A (p.Pro752His)
NM_001851.6(COL9A1):c.2259+17T>G
NM_001851.6(COL9A1):c.2260-1G>A rs1322829123
NM_001851.6(COL9A1):c.2260-2A>G
NM_001851.6(COL9A1):c.2260-4C>T rs2127559516
NM_001851.6(COL9A1):c.2260-6T>C rs2127559518
NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)
NM_001851.6(COL9A1):c.226A>G (p.Arg76Gly) rs1774005110
NM_001851.6(COL9A1):c.227G>A (p.Arg76Lys)
NM_001851.6(COL9A1):c.2281C>T (p.His761Tyr)
NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val) rs2127559477
NM_001851.6(COL9A1):c.2302A>G (p.Arg768Gly) rs1191443057
NM_001851.6(COL9A1):c.2314+10T>C
NM_001851.6(COL9A1):c.2314+17G>A
NM_001851.6(COL9A1):c.2314+227_2314+230dup rs55719911
NM_001851.6(COL9A1):c.2314+233_2314+234insTTTG rs71771132
NM_001851.6(COL9A1):c.2314+239_2314+240insTTTTT rs1376237848
NM_001851.6(COL9A1):c.2314+282AC[10] rs71538408
NM_001851.6(COL9A1):c.2314+282AC[12] rs71538408
NM_001851.6(COL9A1):c.2315-12A>C
NM_001851.6(COL9A1):c.2315-13T>A
NM_001851.6(COL9A1):c.2315-15T>C
NM_001851.6(COL9A1):c.2315-186A>C rs642635
NM_001851.6(COL9A1):c.2315-2A>G
NM_001851.6(COL9A1):c.2316A>G (p.Glu772=)
NM_001851.6(COL9A1):c.233T>A (p.Val78Glu)
NM_001851.6(COL9A1):c.2347C>T (p.Arg783Cys) rs1268667358
NM_001851.6(COL9A1):c.2360G>T (p.Gly787Val)
NM_001851.6(COL9A1):c.2361T>G (p.Gly787=)
NM_001851.6(COL9A1):c.2361_2362del (p.Ala788fs)
NM_001851.6(COL9A1):c.2364dup (p.Thr789fs) rs2127557714
NM_001851.6(COL9A1):c.2365A>T (p.Thr789Ser) rs373877078
NM_001851.6(COL9A1):c.2372T>C (p.Leu791Pro) rs1769631044
NM_001851.6(COL9A1):c.2382G>A (p.Arg794=)
NM_001851.6(COL9A1):c.2395G>T (p.Gly799Cys) rs1769629894
NM_001851.6(COL9A1):c.2398C>A (p.Pro800Thr) rs527945609
NM_001851.6(COL9A1):c.2399C>T (p.Pro800Leu) rs775466585
NM_001851.6(COL9A1):c.2402C>A (p.Pro801His)
NM_001851.6(COL9A1):c.2403dup (p.Gly802fs)
NM_001851.6(COL9A1):c.2406C>A (p.Gly802=) rs770705023
NM_001851.6(COL9A1):c.2407C>T (p.Pro803Ser)
NM_001851.6(COL9A1):c.2412T>G (p.Pro804=)
NM_001851.6(COL9A1):c.2415A>G (p.Gly805=) rs2127557651
NM_001851.6(COL9A1):c.2439G>A (p.Met813Ile) rs747652928
NM_001851.6(COL9A1):c.2447G>A (p.Arg816His)
NM_001851.6(COL9A1):c.2448T>C (p.Arg816=) rs2127557612
NM_001851.6(COL9A1):c.2451C>A (p.Gly817=)
NM_001851.6(COL9A1):c.2453T>A (p.Leu818His) rs1438856749
NM_001851.6(COL9A1):c.2454T>C (p.Leu818=)
NM_001851.6(COL9A1):c.2485G>A (p.Gly829Ser)
NM_001851.6(COL9A1):c.2489T>C (p.Leu830Ser)
NM_001851.6(COL9A1):c.2492G>A (p.Arg831Lys) rs764624908
NM_001851.6(COL9A1):c.2495G>T (p.Gly832Val)
NM_001851.6(COL9A1):c.2503+17A>C
NM_001851.6(COL9A1):c.2504-11A>G
NM_001851.6(COL9A1):c.2504-13T>C
NM_001851.6(COL9A1):c.2504-17_2504-13del rs2127552815
NM_001851.6(COL9A1):c.2504-8_2504-4del
NM_001851.6(COL9A1):c.2510T>C (p.Leu837Ser)
NM_001851.6(COL9A1):c.251A>G (p.Gln84Arg)
NM_001851.6(COL9A1):c.252G>A (p.Gln84=) rs1208726729
NM_001851.6(COL9A1):c.252G>T (p.Gln84His) rs1208726729
NM_001851.6(COL9A1):c.2532C>T (p.Gly844=)
NM_001851.6(COL9A1):c.2546G>A (p.Gly849Asp) rs1769199680
NM_001851.6(COL9A1):c.2554G>C (p.Gly852Arg)
NM_001851.6(COL9A1):c.2558T>C (p.Leu853Ser) rs886702234
NM_001851.6(COL9A1):c.2561C>T (p.Pro854Leu) rs761742449
NM_001851.6(COL9A1):c.2572G>T (p.Gly858Cys) rs1769197490
NM_001851.6(COL9A1):c.2579C>G (p.Pro860Arg)
NM_001851.6(COL9A1):c.2581+15T>C
NM_001851.6(COL9A1):c.2581+5G>A
NM_001851.6(COL9A1):c.2581+6T>C
NM_001851.6(COL9A1):c.2581+9G>A
NM_001851.6(COL9A1):c.2582-10del
NM_001851.6(COL9A1):c.2582-11G>A rs2127544176
NM_001851.6(COL9A1):c.2582-11GT[2]
NM_001851.6(COL9A1):c.2582-13C>T
NM_001851.6(COL9A1):c.2582-16C>A
NM_001851.6(COL9A1):c.2582-16C>T
NM_001851.6(COL9A1):c.2583T>G (p.Gly861=)
NM_001851.6(COL9A1):c.2593C>T (p.Pro865Ser) rs1203477719
NM_001851.6(COL9A1):c.2594C>T (p.Pro865Leu) rs2127544141
NM_001851.6(COL9A1):c.2596G>A (p.Ala866Thr)
NM_001851.6(COL9A1):c.2597C>A (p.Ala866Asp)
NM_001851.6(COL9A1):c.2605G>C (p.Gly869Arg) rs2127544130
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly) rs200829297
NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)
NM_001851.6(COL9A1):c.2618G>A (p.Arg873Gln)
NM_001851.6(COL9A1):c.2618G>T (p.Arg873Leu) rs201520437
NM_001851.6(COL9A1):c.2623G>C (p.Gly875Arg)
NM_001851.6(COL9A1):c.2626G>A (p.Glu876Lys) rs2127544097
NM_001851.6(COL9A1):c.2626G>C (p.Glu876Gln) rs2127544097
NM_001851.6(COL9A1):c.2628G>T (p.Glu876Asp) rs1336291242
NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln) rs1408064118
NM_001851.6(COL9A1):c.2636C>A (p.Pro879His)
NM_001851.6(COL9A1):c.2637C>T (p.Pro879=)
NM_001851.6(COL9A1):c.2644del (p.Val882fs) rs2127544065
NM_001851.6(COL9A1):c.264G>A (p.Lys88=)
NM_001851.6(COL9A1):c.2655T>G (p.Ile885Met) rs2127544055
NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser) rs763970167
NM_001851.6(COL9A1):c.2684C>G (p.Pro895Arg)
NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu) rs758916884
NM_001851.6(COL9A1):c.2695G>A (p.Gly899Ser)
NM_001851.6(COL9A1):c.269G>A (p.Gly90Glu) rs2127608290
NM_001851.6(COL9A1):c.2702G>A (p.Cys901Tyr)
NM_001851.6(COL9A1):c.2724G>A (p.Met908Ile)
NM_001851.6(COL9A1):c.2739A>G (p.Arg913=) rs2127543940
NM_001851.6(COL9A1):c.2751A>G (p.Lys917=)
NM_001851.6(COL9A1):c.2761C>T (p.Pro921Ser) rs374561398
NM_001851.6(COL9A1):c.286A>G (p.Arg96Gly) rs375022897
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
NM_001851.6(COL9A1):c.298A>G (p.Arg100Gly)
NM_001851.6(COL9A1):c.299+12A>G
NM_001851.6(COL9A1):c.299+14_299+15del rs1773999575
NM_001851.6(COL9A1):c.299+16T>C rs917863075
NM_001851.6(COL9A1):c.299+18T>G rs1230656104
NM_001851.6(COL9A1):c.299+8A>G
NM_001851.6(COL9A1):c.300-15A>G rs578099147
NM_001851.6(COL9A1):c.300-19_300-4del rs1773783129
NM_001851.6(COL9A1):c.300-67del rs3840415
NM_001851.6(COL9A1):c.309T>A (p.Tyr103Ter) rs372763803
NM_001851.6(COL9A1):c.316G>C (p.Gly106Arg)
NM_001851.6(COL9A1):c.335C>T (p.Ser112Phe)
NM_001851.6(COL9A1):c.348G>A (p.Thr116=) rs779960146
NM_001851.6(COL9A1):c.348G>T (p.Thr116=) rs779960146
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter) rs147237457
NM_001851.6(COL9A1):c.353_357dup (p.Thr120delinsGluTer)
NM_001851.6(COL9A1):c.355A>T (p.Met119Leu)
NM_001851.6(COL9A1):c.36T>A (p.Phe12Leu)
NM_001851.6(COL9A1):c.372C>G (p.Leu124=)
NM_001851.6(COL9A1):c.372C>T (p.Leu124=)
NM_001851.6(COL9A1):c.380A>G (p.Asn127Ser) rs763327020
NM_001851.6(COL9A1):c.381C>A (p.Asn127Lys) rs373482218
NM_001851.6(COL9A1):c.38T>G (p.Val13Gly)
NM_001851.6(COL9A1):c.397A>T (p.Ile133Phe)
NM_001851.6(COL9A1):c.403del (p.Asp135fs) rs2127605169
NM_001851.6(COL9A1):c.404A>C (p.Asp135Ala) rs1202257253
NM_001851.6(COL9A1):c.415A>T (p.Lys139Ter)
NM_001851.6(COL9A1):c.420G>A (p.Glu140=) rs748783496
NM_001851.6(COL9A1):c.420G>C (p.Glu140Asp)
NM_001851.6(COL9A1):c.423A>G (p.Gln141=)
NM_001851.6(COL9A1):c.425T>C (p.Val142Ala) rs1773775158
NM_001851.6(COL9A1):c.426T>G (p.Val142=)
NM_001851.6(COL9A1):c.437T>C (p.Ile146Thr)
NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)
NM_001851.6(COL9A1):c.45T>C (p.Ser15=)
NM_001851.6(COL9A1):c.462A>T (p.Val154=) rs150571620
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
NM_001851.6(COL9A1):c.494A>C (p.Gln165Pro) rs772666114
NM_001851.6(COL9A1):c.503C>T (p.Ala168Val) rs199822035
NM_001851.6(COL9A1):c.522C>G (p.Ser174=)
NM_001851.6(COL9A1):c.534C>T (p.Ser178=)
NM_001851.6(COL9A1):c.552G>A (p.Met184Ile) rs751324421
NM_001851.6(COL9A1):c.554T>C (p.Ile185Thr)
NM_001851.6(COL9A1):c.559G>A (p.Val187Met) rs773143381
NM_001851.6(COL9A1):c.560T>G (p.Val187Gly) rs2127605012
NM_001851.6(COL9A1):c.567G>A (p.Arg189=)
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.575C>T (p.Ala192Val) rs2127604996
NM_001851.6(COL9A1):c.57C>G (p.Pro19=) rs2127609488
NM_001851.6(COL9A1):c.580C>A (p.Leu194Ile) rs2127604991
NM_001851.6(COL9A1):c.583T>C (p.Phe195Leu)
NM_001851.6(COL9A1):c.585T>C (p.Phe195=)
NM_001851.6(COL9A1):c.586G>A (p.Val196Ile)
NM_001851.6(COL9A1):c.588T>C (p.Val196=)
NM_001851.6(COL9A1):c.594C>T (p.Cys198=) rs367745745
NM_001851.6(COL9A1):c.597C>T (p.Asn199=)
NM_001851.6(COL9A1):c.59G>A (p.Trp20Ter) rs2127609482
NM_001851.6(COL9A1):c.5_7del (p.Lys2del) rs1389297007
NM_001851.6(COL9A1):c.604G>T (p.Glu202Ter)
NM_001851.6(COL9A1):c.609T>C (p.Ser203=) rs2127604951
NM_001851.6(COL9A1):c.609T>G (p.Ser203=) rs2127604951
NM_001851.6(COL9A1):c.611T>G (p.Leu204Ter)
NM_001851.6(COL9A1):c.619A>G (p.Lys207Glu)
NM_001851.6(COL9A1):c.630C>G (p.Gly210=) rs2127604931
NM_001851.6(COL9A1):c.634A>G (p.Ile212Val)
NM_001851.6(COL9A1):c.643G>A (p.Asp215Asn)
NM_001851.6(COL9A1):c.647G>A (p.Gly216Asp)
NM_001851.6(COL9A1):c.648C>A (p.Gly216=) rs2127604913
NM_001851.6(COL9A1):c.64T>C (p.Ser22Pro) rs765061853
NM_001851.6(COL9A1):c.657G>T (p.Val219=)
NM_001851.6(COL9A1):c.658C>T (p.Leu220=)
NM_001851.6(COL9A1):c.670G>A (p.Ala224Thr) rs2127604892
NM_001851.6(COL9A1):c.678T>C (p.Asn226=) rs1773759215
NM_001851.6(COL9A1):c.688T>C (p.Ser230Pro)
NM_001851.6(COL9A1):c.695C>T (p.Pro232Leu)
NM_001851.6(COL9A1):c.696+16C>T
NM_001851.6(COL9A1):c.696+19A>G rs1773757430
NM_001851.6(COL9A1):c.697-12A>G rs1773327380
NM_001851.6(COL9A1):c.697-15A>G
NM_001851.6(COL9A1):c.697-16T>C rs2127599962
NM_001851.6(COL9A1):c.699T>G (p.Phe233Leu)
NM_001851.6(COL9A1):c.706C>T (p.Gln236Ter)
NM_001851.6(COL9A1):c.710G>A (p.Trp237Ter)
NM_001851.6(COL9A1):c.717_781-267del
NM_001851.6(COL9A1):c.722A>T (p.His241Leu) rs1157440130
NM_001851.6(COL9A1):c.723T>C (p.His241=)
NM_001851.6(COL9A1):c.725G>A (p.Cys242Tyr)
NM_001851.6(COL9A1):c.729C>T (p.Asp243=) rs2127599903
NM_001851.6(COL9A1):c.733del (p.Leu245fs)
NM_001851.6(COL9A1):c.736C>A (p.Arg246=)
NM_001851.6(COL9A1):c.736C>T (p.Arg246Trp) rs138557524
NM_001851.6(COL9A1):c.737G>A (p.Arg246Gln)
NM_001851.6(COL9A1):c.738G>T (p.Arg246=)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228
NM_001851.6(COL9A1):c.746G>C (p.Arg249Thr)
NM_001851.6(COL9A1):c.753T>C (p.Thr251=) rs1773321456
NM_001851.6(COL9A1):c.757C>A (p.His253Asn)
NM_001851.6(COL9A1):c.758A>G (p.His253Arg) rs747074497
NM_001851.6(COL9A1):c.768A>G (p.Pro256=)
NM_001851.6(COL9A1):c.771dup (p.Arg258fs)
NM_001851.6(COL9A1):c.773G>T (p.Arg258Ile)
NM_001851.6(COL9A1):c.77A>G (p.Lys26Arg) rs1774083146
NM_001851.6(COL9A1):c.780+14C>G rs917108673
NM_001851.6(COL9A1):c.780+18C>T
NM_001851.6(COL9A1):c.780+9C>G rs763935873
NM_001851.6(COL9A1):c.781-13T>G
NM_001851.6(COL9A1):c.781-16A>G
NM_001851.6(COL9A1):c.781-1G>C
NM_001851.6(COL9A1):c.781-6C>T rs2127599096
NM_001851.6(COL9A1):c.781-9C>A
NM_001851.6(COL9A1):c.781C>T (p.Pro261Ser)
NM_001851.6(COL9A1):c.782C>G (p.Pro261Arg)
NM_001851.6(COL9A1):c.783del (p.Ser262fs)
NM_001851.6(COL9A1):c.78G>A (p.Lys26=) rs540615626
NM_001851.6(COL9A1):c.793A>G (p.Thr265Ala) rs1773262366
NM_001851.6(COL9A1):c.795C>A (p.Thr265=)
NM_001851.6(COL9A1):c.798C>T (p.Asp266=) rs2127599082
NM_001851.6(COL9A1):c.799G>T (p.Glu267Ter) rs1034243338
NM_001851.6(COL9A1):c.79C>T (p.Arg27Cys) rs746534856
NM_001851.6(COL9A1):c.7A>T (p.Thr3Ser)
NM_001851.6(COL9A1):c.802-11A>G
NM_001851.6(COL9A1):c.802-16C>A
NM_001851.6(COL9A1):c.802-18G>C
NM_001851.6(COL9A1):c.802-19T>C
NM_001851.6(COL9A1):c.802-20A>T
NM_001851.6(COL9A1):c.802-4C>T rs370569186
NM_001851.6(COL9A1):c.802-8T>G
NM_001851.6(COL9A1):c.802A>T (p.Arg268Ter)
NM_001851.6(COL9A1):c.803G>A (p.Arg268Lys)
NM_001851.6(COL9A1):c.807T>C (p.Gly269=) rs1773163154
NM_001851.6(COL9A1):c.811C>T (p.Pro271Ser)
NM_001851.6(COL9A1):c.812C>A (p.Pro271Gln)
NM_001851.6(COL9A1):c.819G>A (p.Glu273=)
NM_001851.6(COL9A1):c.823G>C (p.Gly275Arg)
NM_001851.6(COL9A1):c.828T>C (p.Pro276=)
NM_001851.6(COL9A1):c.82C>A (p.Arg28Ser)
NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys) rs745566207
NM_001851.6(COL9A1):c.831C>T (p.Pro277=)
NM_001851.6(COL9A1):c.832G>T (p.Gly278Trp) rs1224223702
NM_001851.6(COL9A1):c.835C>A (p.Pro279Thr)
NM_001851.6(COL9A1):c.837T>A (p.Pro279=)
NM_001851.6(COL9A1):c.839C>T (p.Pro280Leu)
NM_001851.6(COL9A1):c.840G>C (p.Pro280=)
NM_001851.6(COL9A1):c.841G>A (p.Gly281Ser)
NM_001851.6(COL9A1):c.842G>A (p.Gly281Asp)
NM_001851.6(COL9A1):c.842G>C (p.Gly281Ala)
NM_001851.6(COL9A1):c.843C>T (p.Gly281=) rs756873013
NM_001851.6(COL9A1):c.847C>G (p.Pro283Ala) rs1038310229
NM_001851.6(COL9A1):c.847_848del (p.Pro283fs)
NM_001851.6(COL9A1):c.848dup (p.Gly284fs) rs941174282
NM_001851.6(COL9A1):c.858A>G (p.Pro286=)
NM_001851.6(COL9A1):c.85C>A (p.Pro29Thr)
NM_001851.6(COL9A1):c.862A>G (p.Ile288Val)
NM_001851.6(COL9A1):c.865G>A (p.Asp289Asn)
NM_001851.6(COL9A1):c.865dup (p.Asp289fs)
NM_001851.6(COL9A1):c.867T>C (p.Asp289=)
NM_001851.6(COL9A1):c.867_875dup (p.Gly293_Asp294insIleAspGly)
NM_001851.6(COL9A1):c.870C>T (p.Gly290=) rs2127597715
NM_001851.6(COL9A1):c.876+14_876+21del
NM_001851.6(COL9A1):c.876+20C>T
NM_001851.6(COL9A1):c.876+77_876+78dup rs34962262
NM_001851.6(COL9A1):c.876+77dup rs34962262
NM_001851.6(COL9A1):c.876+89del rs34962262
NM_001851.6(COL9A1):c.876+8T>C
NM_001851.6(COL9A1):c.877-1G>T
NM_001851.6(COL9A1):c.877-27CT[2] rs1773129252
NM_001851.6(COL9A1):c.877-8C>G
NM_001851.6(COL9A1):c.879T>G (p.Gly293=) rs1038656483
NM_001851.6(COL9A1):c.88+13G>A rs1774081356
NM_001851.6(COL9A1):c.88+14T>A
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001851.6(COL9A1):c.89-91ATT[7] rs959164999
NM_001851.6(COL9A1):c.900C>T (p.Pro300=)
NM_001851.6(COL9A1):c.902dup (p.Pro306fs) rs771382737
NM_001851.6(COL9A1):c.905G>C (p.Gly302Ala)
NM_001851.6(COL9A1):c.907C>G (p.Pro303Ala) rs759319053
NM_001851.6(COL9A1):c.909C>G (p.Pro303=)
NM_001851.6(COL9A1):c.911del (p.Pro304fs)
NM_001851.6(COL9A1):c.912+16C>T
NM_001851.6(COL9A1):c.912+19A>C
NM_001851.6(COL9A1):c.912+8G>T rs1773122137
NM_001851.6(COL9A1):c.913-15T>A
NM_001851.6(COL9A1):c.913-17C>T
NM_001851.6(COL9A1):c.913-20A>G
NM_001851.6(COL9A1):c.913-2A>C
NM_001851.6(COL9A1):c.913-31_913-16del
NM_001851.6(COL9A1):c.913-4T>C
NM_001851.6(COL9A1):c.913-5C>G rs763816689
NM_001851.6(COL9A1):c.913-9C>G
NM_001851.6(COL9A1):c.914G>A (p.Gly305Asp) rs1335396298
NM_001851.6(COL9A1):c.924del (p.Glu309fs)
NM_001851.6(COL9A1):c.929C>T (p.Pro310Leu) rs1159414513
NM_001851.6(COL9A1):c.936G>A (p.Lys312=)
NM_001851.6(COL9A1):c.943G>A (p.Ala315Thr) rs369114509
NM_001851.6(COL9A1):c.953_961del (p.Lys318_Gly320del) rs755136585
NM_001851.6(COL9A1):c.959G>A (p.Gly320Asp) rs187291813
NM_001851.6(COL9A1):c.969C>A (p.Gly323=) rs369670041
NM_001851.6(COL9A1):c.969C>T (p.Gly323=) rs369670041
NM_001851.6(COL9A1):c.970G>A (p.Ala324Thr)
NM_001851.6(COL9A1):c.970G>T (p.Ala324Ser) rs1286307073
NM_001851.6(COL9A1):c.975+11G>A rs2127597140
NM_001851.6(COL9A1):c.975+12A>C rs2127597139
NM_001851.6(COL9A1):c.975+18G>C
NM_001851.6(COL9A1):c.975+72dup rs67240674
NM_001851.6(COL9A1):c.975+8G>A rs2127597148
NM_001851.6(COL9A1):c.976-16T>C
NM_001851.6(COL9A1):c.976-20T>C
NM_001851.6(COL9A1):c.976-3T>G rs2127592930
NM_001851.6(COL9A1):c.984A>G (p.Thr328=)
NM_001851.6(COL9A1):c.994G>A (p.Gly332Arg)
NM_001851.6(COL9A1):c.998C>A (p.Ser333Tyr)
NM_001851.6(COL9A1):c.99C>G (p.Val33=) rs1487489675
NM_001851.6(COL9A1):c.9dup (p.Cys4fs) rs1404756199

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