ClinVar Miner

List of variants in gene COL2A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 652
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.609+251A>G rs1793959 0.93738
NM_001844.5(COL2A1):c.2518-69T>C rs1635554 0.91183
NM_001844.5(COL2A1):c.-119C>T rs3803182 0.79564
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_001844.5(COL2A1):c.1023+108T>C rs1635534 0.75615
NM_001844.5(COL2A1):c.1023+84C>A rs1793915 0.75584
NM_001844.5(COL2A1):c.85+18C>G rs3803184 0.75547
NM_001844.5(COL2A1):c.969+189T>G rs1793912 0.75283
NM_001844.5(COL2A1):c.969+216A>T rs1793913 0.75258
NM_001844.4(COL2A1):c.-246G>T rs10783226 0.75123
NM_001844.5(COL2A1):c.1888-47T>C rs1635550 0.74634
NM_001844.5(COL2A1):c.292+258G>A rs1635532 0.65201
NM_001844.5(COL2A1):c.293-219T>C rs1793958 0.57157
NM_001844.5(COL2A1):c.762+182T>G rs2276453 0.54925
NM_001844.5(COL2A1):c.762+208G>A rs2248990 0.54904
NM_001844.5(COL2A1):c.292+176C>T rs1793953 0.52389
NM_001844.5(COL2A1):c.1528-108A>G rs7963636 0.49481
NM_001844.5(COL2A1):c.969+184C>G rs1793911 0.49358
NM_001844.5(COL2A1):c.1069-171T>C rs1635537 0.48741
NM_001844.5(COL2A1):c.1527+88T>C rs1635544 0.46977
NM_001844.5(COL2A1):c.1527+158T>G rs1635547 0.46936
NM_001844.5(COL2A1):c.1527+155T>C rs1635546 0.46934
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_001844.5(COL2A1):c.2194-55T>C rs3829737 0.43071
NM_001844.5(COL2A1):c.2194-111G>A rs3829736 0.42997
NM_001844.5(COL2A1):c.2302-32T>C rs2276456 0.40500
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_001844.5(COL2A1):c.2301+148C>T rs2276455 0.37544
NM_001844.5(COL2A1):c.2302-22G>A rs2276457 0.37493
NM_001844.5(COL2A1):c.1528-62C>T rs3829734 0.35925
NM_001844.5(COL2A1):c.3112-159C>T rs1793949 0.33271
NM_001844.5(COL2A1):c.2409+84G>C rs1793937 0.30046
NM_001844.5(COL2A1):c.2301+72C>T rs12811832 0.29194
NM_001844.5(COL2A1):c.1024-209C>A rs11168342 0.28847
NM_001844.5(COL2A1):c.2733+113T>C rs12368284 0.27600
NM_001844.5(COL2A1):c.531+334C>T rs7971880 0.26030
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_001844.5(COL2A1):c.1024-226C>T rs11168343 0.25684
NM_001844.5(COL2A1):c.2050-49G>T rs11168338 0.24535
NM_001844.5(COL2A1):c.4317+43C>T rs1635560 0.21843
NM_001844.5(COL2A1):c.531+295G>A rs56037230 0.20336
NM_001844.5(COL2A1):c.970-205T>C rs2071437 0.20253
NM_001844.5(COL2A1):c.709-154G>A rs12423250 0.20226
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_001844.5(COL2A1):c.532-177A>T rs2213163 0.20089
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_001844.5(COL2A1):c.531+262G>A rs56959315 0.20082
NM_001844.5(COL2A1):c.762+42del rs3216168 0.20069
NM_001844.5(COL2A1):c.3886+111T>G rs4760608 0.18252
NM_001844.5(COL2A1):c.2517+82A>G rs12300271 0.16102
NM_001844.5(COL2A1):c.2409+121dup rs41263865 0.15711
NM_001844.5(COL2A1):c.708+160G>C rs1793960 0.15520
NM_001844.5(COL2A1):c.2679+222C>A rs1793943 0.14857
NM_001844.5(COL2A1):c.3886+207G>A rs12721428 0.09950
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_001844.5(COL2A1):c.816+105C>T rs55921916 0.08366
NM_001844.5(COL2A1):c.2626-166T>C rs57444859 0.07428
NM_001844.5(COL2A1):c.2626-183A>G rs56387272 0.07423
NM_001844.5(COL2A1):c.2734-248G>A rs73297161 0.07317
NM_001844.5(COL2A1):c.1735-57G>C rs56006800 0.06588
NM_001844.5(COL2A1):c.2356-56G>T rs41263861 0.06078
NM_001844.5(COL2A1):c.*136C>T rs41272777 0.05859
NM_001844.5(COL2A1):c.2302-133C>T rs77813711 0.05573
NM_001844.5(COL2A1):c.2193+57C>T rs55967487 0.05572
NM_001844.5(COL2A1):c.2409+108C>T rs75703301 0.05542
NM_001844.5(COL2A1):c.2355+68G>A rs79896080 0.05540
NM_001844.5(COL2A1):c.1942-116T>C rs10219510 0.05498
NM_001844.5(COL2A1):c.3886+75A>C rs56196515 0.05405
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_001844.5(COL2A1):c.4074+162G>A rs12721426 0.05396
NM_001844.5(COL2A1):c.4318-130del rs139902658 0.05396
NM_001844.5(COL2A1):c.1681-38G>A rs41317929 0.05266
NM_001844.5(COL2A1):c.1735-24T>C rs41317933 0.05260
NM_001844.5(COL2A1):c.4318-91C>T rs61048429 0.05196
NM_001844.5(COL2A1):c.1941+152A>G rs56010633 0.05186
NM_001844.5(COL2A1):c.1888-24C>A rs41263845 0.05181
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_001844.5(COL2A1):c.1941+114A>G rs55744743 0.05152
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_001844.5(COL2A1):c.3273+58T>C rs41272749 0.05106
NM_001844.5(COL2A1):c.709-141C>G rs55698101 0.05038
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
NM_001844.5(COL2A1):c.2734-269G>A rs75447849 0.04654
NM_001844.5(COL2A1):c.3490-70C>T rs57138989 0.04486
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_001844.5(COL2A1):c.3165+43A>G rs41272745 0.02677
NM_001844.5(COL2A1):c.3111+26G>A rs58279970 0.02671
NM_001844.5(COL2A1):c.3111+73A>C rs56265470 0.02670
NM_001844.5(COL2A1):c.3111+114G>A rs57550917 0.02667
NM_001844.5(COL2A1):c.2734-199T>A rs73297159 0.02664
NM_001844.5(COL2A1):c.2733+193C>T rs115291873 0.02639
NM_001844.5(COL2A1):c.2733+209C>T rs116357910 0.02633
NM_001844.5(COL2A1):c.2733+220T>C rs113267873 0.02633
NM_001844.5(COL2A1):c.2733+197A>C rs74086449 0.02632
NM_001844.5(COL2A1):c.2733+239G>C rs73297163 0.02629
NM_001844.5(COL2A1):c.2680-132A>C rs58431786 0.02612
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_001844.5(COL2A1):c.2680-164A>G rs41272035 0.02602
NM_001844.5(COL2A1):c.2626-94C>T rs58783688 0.02598
NM_001844.5(COL2A1):c.3597+62C>T rs73297147 0.02515
NM_001844.5(COL2A1):c.3436-73T>C rs41272761 0.02513
NM_001844.5(COL2A1):c.3490-152A>T rs74088779 0.02511
NM_001844.4(COL2A1):c.-187G>A rs41317877 0.02510
NM_001844.5(COL2A1):c.2464-181T>A rs58559329 0.02465
NM_001844.5(COL2A1):c.3328-89T>G rs41272757 0.02456
NM_001844.5(COL2A1):c.3274-73A>G rs41272751 0.02447
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001844.5(COL2A1):c.532-27T>A rs41317883 0.02397
NM_001844.5(COL2A1):c.3886+213C>T rs56932369 0.02275
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_001844.5(COL2A1):c.3328-20G>T rs73297150 0.02225
NM_001844.5(COL2A1):c.2734-99C>T rs115194627 0.02138
NM_001844.5(COL2A1):c.1068+51G>A rs41317907 0.02135
NM_001844.5(COL2A1):c.2518-91C>T rs41263867 0.02110
NM_001844.5(COL2A1):c.*295C>T rs41272781 0.02009
NM_001844.5(COL2A1):c.375+46G>A rs77680085 0.01915
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001844.5(COL2A1):c.1735-43G>A rs41317931 0.01789
NM_001844.5(COL2A1):c.1024-221C>A rs148257083 0.01729
NM_001844.5(COL2A1):c.816+57C>T rs116115813 0.01657
NM_001844.5(COL2A1):c.85+96C>G rs76609872 0.01643
NM_001844.5(COL2A1):c.2194-30C>T rs41263855 0.01633
NM_001844.5(COL2A1):c.2680-105G>A rs73297165 0.01423
NM_001844.5(COL2A1):c.2679+30C>T rs41272031 0.01378
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_001844.5(COL2A1):c.1680+17C>T rs115270781 0.01302
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001844.5(COL2A1):c.1420-105dup rs1555167309 0.01107
NM_001844.5(COL2A1):c.609+115G>A rs41317885 0.01094
NM_001844.5(COL2A1):c.2356-111G>A rs41263857 0.01044
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_001844.5(COL2A1):c.1527+44C>T rs41317921 0.01004
NM_001844.5(COL2A1):c.85+77G>C rs190907971 0.00738
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_001844.5(COL2A1):c.1942-134A>T rs77169216 0.00710
NM_001844.5(COL2A1):c.1024-241G>A rs181764401 0.00701
NM_001844.5(COL2A1):c.2193+32G>A rs3829735 0.00682
NM_001844.5(COL2A1):c.1528-157del rs41317923 0.00666
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_001844.5(COL2A1):c.1888-34G>A rs41263844 0.00614
NM_001844.5(COL2A1):c.1123-161G>A rs11168339 0.00610
NM_001844.5(COL2A1):c.2895+47G>A rs73297157 0.00530
NM_001844.5(COL2A1):c.2733+118C>T rs114766194 0.00526
NM_001844.5(COL2A1):c.3165+39G>C rs41272043 0.00524
NM_001844.5(COL2A1):c.1735-206C>T rs58724054 0.00523
NM_001844.5(COL2A1):c.4075-148C>T rs73297138 0.00520
NM_001844.5(COL2A1):c.3597+162G>A rs78564038 0.00491
NM_001844.5(COL2A1):c.2626-234C>T rs73297171 0.00490
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_001844.5(COL2A1):c.3598-19T>G rs76104937 0.00473
NM_001844.5(COL2A1):c.2625+41G>A rs115030926 0.00471
NM_001844.5(COL2A1):c.4318-221G>C rs116379863 0.00469
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_001844.5(COL2A1):c.1221+20G>C rs41317913 0.00432
NM_001844.5(COL2A1):c.3003+22C>G rs116381604 0.00420
NM_001844.5(COL2A1):c.3886+220C>A rs146235600 0.00401
NM_001844.5(COL2A1):c.1024-50C>T rs116536651 0.00399
NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=) rs41272771 0.00357
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_001844.5(COL2A1):c.*235C>T rs558260275 0.00251
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_001844.5(COL2A1):c.610-34T>C rs41317889 0.00169
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892 0.00142
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00138
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756 0.00090
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.3274-50C>T rs41272753 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001844.5(COL2A1):c.969+6T>C rs139163410 0.00081
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936 0.00079
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_001844.5(COL2A1):c.398C>A (p.Pro133His) rs201234519 0.00061
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_001844.5(COL2A1):c.*28C>T rs41272775 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001844.5(COL2A1):c.1266+19del rs41317917 0.00039
NM_001844.5(COL2A1):c.762+13G>A rs147698746 0.00036
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) rs200882049 0.00031
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr) rs143363942 0.00026
NM_001844.5(COL2A1):c.3274-18C>T rs370482993 0.00026
NM_001844.5(COL2A1):c.528T>A (p.Gly176=) rs567132968 0.00025
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_001844.5(COL2A1):c.655-17C>T rs372454816 0.00024
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722 0.00023
NM_001844.5(COL2A1):c.3870C>T (p.His1290=) rs139957398 0.00020
NM_001844.5(COL2A1):c.2901C>T (p.Ala967=) rs148449532 0.00019
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001844.5(COL2A1):c.816+13G>A rs149757685 0.00016
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) rs775923357 0.00015
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.662A>C (p.Gln221Pro) rs368187891 0.00014
NM_001844.5(COL2A1):c.135T>C (p.Asp45=) rs375778172 0.00013
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_001844.5(COL2A1):c.3639C>T (p.Pro1213=) rs375710692 0.00013
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) rs41272767 0.00012
NM_001844.5(COL2A1):c.1941+14C>T rs201963693 0.00011
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) rs371974287 0.00011
NM_001844.5(COL2A1):c.871-18T>C rs763541773 0.00011
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp) rs374082762 0.00010
NM_001844.5(COL2A1):c.610-8C>T rs369362701 0.00010
NM_001844.5(COL2A1):c.86-5T>A rs753142339 0.00010
NM_001844.5(COL2A1):c.1011T>C (p.Pro337=) rs761001588 0.00009
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg) rs765855138 0.00009
NM_001844.5(COL2A1):c.2712C>T (p.Arg904=) rs765332234 0.00009
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001844.5(COL2A1):c.3843C>T (p.Arg1281=) rs752970787 0.00009
NM_001844.5(COL2A1):c.3969C>T (p.Cys1323=) rs577585827 0.00009
NM_001844.5(COL2A1):c.4041C>A (p.Ile1347=) rs139496018 0.00009
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922 0.00008
NM_001844.5(COL2A1):c.2742T>C (p.Pro914=) rs369492641 0.00008
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) rs144572461 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) rs201675352 0.00008
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=) rs769766820 0.00007
NM_001844.5(COL2A1):c.2832C>T (p.Pro944=) rs147592023 0.00007
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln) rs770482348 0.00007
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met) rs371226850 0.00007
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) rs775754967 0.00006
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) rs150951022 0.00006
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala) rs376641474 0.00005
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=) rs750227063 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr) rs762355724 0.00004
NM_001844.5(COL2A1):c.1420-13T>C rs781084068 0.00004
NM_001844.5(COL2A1):c.2166C>T (p.Pro722=) rs753427426 0.00004
NM_001844.5(COL2A1):c.2356-5C>T rs41263863 0.00004
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) rs1306517572 0.00004
NM_001844.5(COL2A1):c.2457C>T (p.Gly819=) rs145833071 0.00004
NM_001844.5(COL2A1):c.2475A>G (p.Gly825=) rs368219434 0.00004
NM_001844.5(COL2A1):c.2490C>T (p.Pro830=) rs772029902 0.00004
NM_001844.5(COL2A1):c.2499G>A (p.Ala833=) rs779244918 0.00004
NM_001844.5(COL2A1):c.2655A>T (p.Gly885=) rs775834995 0.00004
NM_001844.5(COL2A1):c.2734-10C>T rs773599916 0.00004
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser) rs769590506 0.00004
NM_001844.5(COL2A1):c.2961G>A (p.Gly987=) rs372938742 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001844.5(COL2A1):c.3234C>T (p.Pro1078=) rs554016564 0.00004
NM_001844.5(COL2A1):c.3426C>T (p.Pro1142=) rs755031857 0.00004
NM_001844.5(COL2A1):c.3507C>T (p.Val1169=) rs371633786 0.00004
NM_001844.5(COL2A1):c.350G>C (p.Gly117Ala) rs201192882 0.00004
NM_001844.5(COL2A1):c.3735C>T (p.Ala1245=) rs752469047 0.00004
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) rs200621622 0.00004
NM_001844.5(COL2A1):c.4103C>T (p.Pro1368Leu) rs149375186 0.00004
NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp) rs764878166 0.00004
NM_001844.5(COL2A1):c.816+6C>T rs766892635 0.00004
NM_001844.5(COL2A1):c.870+12G>A rs373679402 0.00004
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00004
NM_001844.5(COL2A1):c.969+13A>G rs752733598 0.00004
NM_001844.5(COL2A1):c.1000C>T (p.Arg334Trp) rs372264296 0.00003
NM_001844.5(COL2A1):c.1377T>C (p.Gly459=) rs898071484 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001844.5(COL2A1):c.2194-10C>T rs779541449 0.00003
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=) rs781062223 0.00003
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu) rs201963052 0.00003
NM_001844.5(COL2A1):c.2781T>C (p.Gly927=) rs781135588 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val) rs374450416 0.00003
NM_001844.5(COL2A1):c.4407C>T (p.Asp1469=) rs750477616 0.00003
NM_001844.5(COL2A1):c.506C>A (p.Pro169His) rs746108926 0.00003
NM_001844.5(COL2A1):c.763-7C>A rs762591076 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) rs765231668 0.00002
NM_001844.5(COL2A1):c.1067C>T (p.Pro356Leu) rs184529965 0.00002
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His) rs201953356 0.00002
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His) rs766574999 0.00002
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn) rs976006680 0.00002
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser) rs747852608 0.00002
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) rs759822181 0.00002
NM_001844.5(COL2A1):c.310G>A (p.Gly104Arg) rs764210489 0.00002
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) rs780375782 0.00002
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser) rs886626700 0.00002
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) rs556788032 0.00002
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) rs762357071 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) rs745349011 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) rs200549186 0.00002
NM_001844.5(COL2A1):c.1092T>C (p.Gly364=) rs778214645 0.00001
NM_001844.5(COL2A1):c.1122+4C>T rs1041494793 0.00001
NM_001844.5(COL2A1):c.1267-19C>A rs1351301710 0.00001
NM_001844.5(COL2A1):c.1365+12A>G rs1555167401 0.00001
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) rs557340983 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) rs945234297 0.00001
NM_001844.5(COL2A1):c.1544G>A (p.Arg515His) rs1326204674 0.00001
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp) rs370407502 0.00001
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser) rs907944585 0.00001
NM_001844.5(COL2A1):c.1661C>T (p.Pro554Leu) rs781636320 0.00001
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) rs1186241291 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) rs121912865 0.00001
NM_001844.5(COL2A1):c.2193+13G>A rs867065694 0.00001
NM_001844.5(COL2A1):c.2260G>A (p.Glu754Lys) rs1064796856 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2301+5G>A rs1335619157 0.00001
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly) rs767686686 0.00001
NM_001844.5(COL2A1):c.2355+15G>A rs746660994 0.00001
NM_001844.5(COL2A1):c.2404G>A (p.Glu802Lys) rs148985854 0.00001
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) rs770043048 0.00001
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala) rs147760401 0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.293-17T>C rs368198635 0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile) rs772889503 0.00001
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 0.00001
NM_001844.5(COL2A1):c.3057T>G (p.Pro1019=) rs767248078 0.00001
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met) rs770907704 0.00001
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly) rs748459670 0.00001
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln) rs201956851 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu) rs978657987 0.00001
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) rs753709490 0.00001
NM_001844.5(COL2A1):c.3274-17G>A rs376108759 0.00001
NM_001844.5(COL2A1):c.3287C>T (p.Pro1096Leu) rs377708131 0.00001
NM_001844.5(COL2A1):c.3327+15G>A rs925627565 0.00001
NM_001844.5(COL2A1):c.3328-13G>T rs373278655 0.00001
NM_001844.5(COL2A1):c.3376G>A (p.Glu1126Lys) rs762592219 0.00001
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) rs776292672 0.00001
NM_001844.5(COL2A1):c.347T>C (p.Val116Ala) rs779950053 0.00001
NM_001844.5(COL2A1):c.3621C>T (p.Pro1207=) rs749799630 0.00001
NM_001844.5(COL2A1):c.3637C>A (p.Pro1213Thr) rs886626700 0.00001
NM_001844.5(COL2A1):c.3656A>G (p.Asp1219Gly) rs751251798 0.00001
NM_001844.5(COL2A1):c.3687A>T (p.Arg1229Ser) rs1241940269 0.00001
NM_001844.5(COL2A1):c.3814C>T (p.Pro1272Ser) rs1226449887 0.00001
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) rs778838205 0.00001
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln) rs375448469 0.00001
NM_001844.5(COL2A1):c.3927C>T (p.Asp1309=) rs774100575 0.00001
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr) rs1555164561 0.00001
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn) rs763777663 0.00001
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr) rs775279845 0.00001
NM_001844.5(COL2A1):c.4056C>T (p.Thr1352=) rs759422405 0.00001
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) rs1284508374 0.00001
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) rs759583931 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser) rs1181216326 0.00001
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) rs777416478 0.00001
NM_001844.5(COL2A1):c.547A>G (p.Met183Val) rs1939974978 0.00001
NM_001844.5(COL2A1):c.709-4del rs745987220 0.00001
NM_001844.5(COL2A1):c.760G>T (p.Asp254Tyr) rs1012776131 0.00001
NM_001844.5(COL2A1):c.787G>A (p.Ala263Thr) rs1939852622 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NM_001844.5(COL2A1):c.970-11G>A rs372137436 0.00001
NM_001844.5(COL2A1):c.-41_-40delinsTT rs1555170134
NM_001844.5(COL2A1):c.-5G>A
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) rs755043901
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
NM_001844.5(COL2A1):c.1023+1G>A rs886043794
NM_001844.5(COL2A1):c.1023+4A>G rs1939770285
NM_001844.5(COL2A1):c.1024-202del rs35920899
NM_001844.5(COL2A1):c.1024-264G>A rs558418931
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter) rs1565686896
NM_001844.5(COL2A1):c.1031G>A (p.Arg344Gln) rs1315554899
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser) rs781554389
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1107T>A (p.Gly369=) rs1555167787
NM_001844.5(COL2A1):c.1119_1122+16delinsACCCTGTTGC rs1555167770
NM_001844.5(COL2A1):c.1123-264C>G rs10875715
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) rs1045330263
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) rs2136579628
NM_001844.5(COL2A1):c.1148_1165dup (p.Arg383_Ala388dup) rs2136579443
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) rs1940161368
NM_001844.5(COL2A1):c.121T>C (p.Tyr41His)
NM_001844.5(COL2A1):c.1221+1G>A rs1399741348
NM_001844.5(COL2A1):c.1221+3A>C
NM_001844.5(COL2A1):c.1262C>G (p.Ser421Cys)
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.1267-20C>T rs1592220294
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) rs1555167449
NM_001844.5(COL2A1):c.1283C>G (p.Ala428Gly) rs1939466968
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs) rs1555167439
NM_001844.5(COL2A1):c.1310G>A (p.Arg437Gln)
NM_001844.5(COL2A1):c.1314C>A (p.Gly438=) rs1793934
NM_001844.5(COL2A1):c.1330G>A (p.Gly444Ser) rs1064796332
NM_001844.5(COL2A1):c.1331_1340del (p.Gly444fs) rs2136575705
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter) rs1555167368
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter) rs1565683713
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) rs1064793352
NM_001844.5(COL2A1):c.1420-114dup rs34642877
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1518del (p.Gly507fs) rs2136570799
NM_001844.5(COL2A1):c.1525_1527delinsTGTGACC (p.Arg509fs) rs1592218614
NM_001844.5(COL2A1):c.1527+135G>A rs1592218346
NM_001844.5(COL2A1):c.1527+4A>C rs2136570708
NM_001844.5(COL2A1):c.1528-10G>A rs1939380163
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser)
NM_001844.5(COL2A1):c.1556del (p.Gly519fs) rs1555167140
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.156C>T (p.Cys52=) rs1246771678
NM_001844.5(COL2A1):c.1597C>A (p.Arg533=) rs1085307608
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001844.5(COL2A1):c.160A>T (p.Ile54Phe) rs1940157670
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1648C>T (p.Arg550Cys) rs1555167091
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1679G>A (p.Arg560Gln) rs1186241291
NM_001844.5(COL2A1):c.1680+1G>C rs1057524696
NM_001844.5(COL2A1):c.1681-1dup rs1555167067
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1709dup (p.Pro571fs) rs1555167058
NM_001844.5(COL2A1):c.1734+3A>C rs1057521852
NM_001844.5(COL2A1):c.1742del (p.Pro581fs) rs2136564400
NM_001844.5(COL2A1):c.1744G>A (p.Gly582Ser)
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) rs1057524199
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg) rs886041945
NM_001844.5(COL2A1):c.1833+1G>A rs1939312423
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) rs1555166826
NM_001844.5(COL2A1):c.1925G>T (p.Gly642Val) rs1057524602
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp) rs1592214400
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.1941+1G>A rs1555166808
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1958G>A (p.Arg653Gln) rs1131691824
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys) rs1269619781
NM_001844.5(COL2A1):c.1996-1G>A rs886041935
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) rs2136555177
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) rs2136652928
NM_001844.5(COL2A1):c.2014G>T (p.Gly672Cys) rs2136555019
NM_001844.5(COL2A1):c.2047C>A (p.Gln683Lys) rs1003758989
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.2071G>T (p.Ala691Ser)
NM_001844.5(COL2A1):c.2080C>T (p.Leu694Phe)
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2126C>G (p.Ser709Cys) rs771198337
NM_001844.5(COL2A1):c.2131G>C (p.Gly711Arg)
NM_001844.5(COL2A1):c.2132G>A (p.Gly711Asp) rs2136551433
NM_001844.5(COL2A1):c.2193+101G>T rs11168337
NM_001844.5(COL2A1):c.2194-54dup rs3842680
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp) rs1555166457
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val) rs1367822001
NM_001844.5(COL2A1):c.2281G>T (p.Ala761Ser)
NM_001844.5(COL2A1):c.2288_2290delinsTCT (p.Pro763_Lys764delinsLeuTer) rs2136548888
NM_001844.5(COL2A1):c.2295C>G (p.Gly765=) rs2276454
NM_001844.5(COL2A1):c.2296G>A (p.Asp766Asn)
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser) rs2136546628
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) rs886043410
NM_001844.5(COL2A1):c.2377C>T (p.Pro793Ser)
NM_001844.5(COL2A1):c.2380C>T (p.Pro794Ser) rs1019915024
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2406G>T (p.Glu802Asp) rs2136544523
NM_001844.5(COL2A1):c.2407_2409del (p.Lys803del) rs1057518139
NM_001844.5(COL2A1):c.2410-79C>A rs79231959
NM_001844.5(COL2A1):c.2440A>T (p.Ser814Cys)
NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys) rs1345434851
NM_001844.5(COL2A1):c.2464-75A>C rs2276458
NM_001844.5(COL2A1):c.2484G>A (p.Gly828=) rs1793940
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala) rs745794356
NM_001844.5(COL2A1):c.2490del (p.Gly831fs) rs1273496827
NM_001844.5(COL2A1):c.2490dup (p.Gly831fs) rs1273496827
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.2545G>A (p.Gly849Ser)
NM_001844.5(COL2A1):c.2552A>C (p.Gln851Pro) rs1057524266
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter) rs1565674604
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter) rs1131691546
NM_001844.5(COL2A1):c.2609G>T (p.Gly870Val) rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) rs886041713
NM_001844.5(COL2A1):c.2618G>A (p.Gly873Glu) rs886042009
NM_001844.5(COL2A1):c.261dup (p.Ile88fs) rs1592238899
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2678del (p.Pro893fs) rs1938958532
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001844.5(COL2A1):c.2734-45_2734-43del rs59984649
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2]) rs2136528419
NM_001844.5(COL2A1):c.2759dup (p.Gly921fs)
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2813del (p.Pro938fs) rs886039543
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp) rs886041914
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) rs1215825701
NM_001844.5(COL2A1):c.2891C>T (p.Pro964Leu)
NM_001844.5(COL2A1):c.2895+20C>T rs1555165468
NM_001844.5(COL2A1):c.292+258G>C rs1635532
NM_001844.5(COL2A1):c.292+258G>T rs1635532
NM_001844.5(COL2A1):c.292+258del rs371739976
NM_001844.5(COL2A1):c.2939G>A (p.Arg980Lys)
NM_001844.5(COL2A1):c.2939G>C (p.Arg980Thr) rs1457365714
NM_001844.5(COL2A1):c.2946C>G (p.Ile982Met) rs555904044
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser) rs2136526413
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter)
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3003+6T>A
NM_001844.5(COL2A1):c.3004-1G>A rs2136525334
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs) rs2136525064
NM_001844.5(COL2A1):c.309+20T>A rs368766858
NM_001844.5(COL2A1):c.310-17A>G rs561118584
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3112-87del rs573313146
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3156dup (p.Gly1053fs) rs1057518157
NM_001844.5(COL2A1):c.3165+4_3165+7del rs773138674
NM_001844.5(COL2A1):c.3166-8C>T rs1555165207
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu) rs1555165195
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.3274-9_3274-6del rs1555165173
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_001844.5(COL2A1):c.3286C>T (p.Pro1096Ser) rs761070916
NM_001844.5(COL2A1):c.3287_3297del (p.Pro1096fs)
NM_001844.5(COL2A1):c.3305C>T (p.Pro1102Leu) rs772478856
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) rs374036874
NM_001844.5(COL2A1):c.3328-13G>A rs373278655
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter) rs2136518839
NM_001844.5(COL2A1):c.3349G>C (p.Asp1117His)
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs) rs1555165110
NM_001844.5(COL2A1):c.3358G>A (p.Glu1120Lys) rs1170064048
NM_001844.5(COL2A1):c.3378G>C (p.Glu1126Asp) rs1238436732
NM_001844.5(COL2A1):c.3381_3382del (p.Gly1128fs) rs1592199296
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp)
NM_001844.5(COL2A1):c.342+3_342+6dup rs2136629152
NM_001844.5(COL2A1):c.342+5G>A rs2136629166
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser) rs2136518157
NM_001844.5(COL2A1):c.3489+221_3489+222insGACCCCTGG rs145571589
NM_001844.5(COL2A1):c.3490-15CT[4] rs780110289
NM_001844.5(COL2A1):c.3490-18G>A rs778292426
NM_001844.5(COL2A1):c.3490-19C>A rs200223738
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=) rs536885536
NM_001844.5(COL2A1):c.3566C>A (p.Pro1189His) rs755010259
NM_001844.5(COL2A1):c.3568C>T (p.Arg1190Cys) rs1338267090
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) rs886042651
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3591C>T (p.Gly1197=) rs1793950
NM_001844.5(COL2A1):c.3597+17del rs758237369
NM_001844.5(COL2A1):c.3597+1G>A rs1555164874
NM_001844.5(COL2A1):c.3597+6T>C rs2136514015
NM_001844.5(COL2A1):c.35T>C (p.Leu12Pro) rs2136652710
NM_001844.5(COL2A1):c.3624del (p.Gly1209fs) rs1555164789
NM_001844.5(COL2A1):c.3626G>T (p.Gly1209Val) rs1131692022
NM_001844.5(COL2A1):c.3627_3644del (p.1205PGP[2]) rs2136512373
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) rs760093841
NM_001844.5(COL2A1):c.3706del (p.Leu1236fs) rs2136511970
NM_001844.5(COL2A1):c.3770C>A (p.Ala1257Asp) rs1169999705
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001844.5(COL2A1):c.3827G>T (p.Arg1276Leu) rs142168567
NM_001844.5(COL2A1):c.3887-6del rs572863485
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_001844.5(COL2A1):c.3997A>C (p.Lys1333Gln)
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
NM_001844.5(COL2A1):c.4006T>C (p.Trp1336Arg)
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter) rs1565666048
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter)
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu) rs927945133
NM_001844.5(COL2A1):c.402dup (p.Gly135fs) rs2136627628
NM_001844.5(COL2A1):c.4055C>T (p.Thr1352Ile) rs2136508104
NM_001844.5(COL2A1):c.4058T>C (p.Ile1353Thr)
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) rs200621622
NM_001844.5(COL2A1):c.4068dup (p.Phe1357fs) rs2136508009
NM_001844.5(COL2A1):c.406del (p.Asp136fs)
NM_001844.5(COL2A1):c.4073A>G (p.His1358Arg)
NM_001844.5(COL2A1):c.4074+1G>A rs2136507956
NM_001844.5(COL2A1):c.4074+2T>G
NM_001844.5(COL2A1):c.4074+50_4074+51del rs41272763
NM_001844.5(COL2A1):c.4075-3C>G rs757931927
NM_001844.5(COL2A1):c.4075-57C>A rs41272765
NM_001844.5(COL2A1):c.4078A>G (p.Ser1360Gly) rs2136506426
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.4166_4168del (p.Ile1389del) rs1064796170
NM_001844.5(COL2A1):c.4177T>G (p.Cys1393Gly) rs2136505545
NM_001844.5(COL2A1):c.4194C>T (p.Ala1398=) rs924835572
NM_001844.5(COL2A1):c.4228G>A (p.Ala1410Thr) rs1057524467
NM_001844.5(COL2A1):c.4318A>G (p.Lys1440Glu) rs2136502727
NM_001844.5(COL2A1):c.4343C>T (p.Thr1448Ile)
NM_001844.5(COL2A1):c.4356C>T (p.Tyr1452=) rs2136502370
NM_001844.5(COL2A1):c.4363C>T (p.Gln1455Ter) rs1555164217
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) rs1224083058
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4420G>A (p.Glu1474Lys) rs540750398
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) rs1414146646
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg) rs2136626415
NM_001844.5(COL2A1):c.485del (p.Gly162fs) rs2136626297
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.504_505delinsA (p.Pro170fs) rs1592235212
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr) rs770027510
NM_001844.5(COL2A1):c.511_512delinsCT (p.Gly171Leu) rs1555169086
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001844.5(COL2A1):c.531+1G>A
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter) rs886041843
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu)
NM_001844.5(COL2A1):c.622C>T (p.Pro208Ser)
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) rs1064794264
NM_001844.5(COL2A1):c.654+1G>A rs2136618972
NM_001844.5(COL2A1):c.655-1G>C rs1555168840
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.709-16C>A rs1434955965
NM_001844.5(COL2A1):c.709-1G>A rs2136616554
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp) rs1592232040
NM_001844.5(COL2A1):c.770C>G (p.Ala257Gly)
NM_001844.5(COL2A1):c.817-6T>G rs1555168542
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.85+1G>T rs727503882
NM_001844.5(COL2A1):c.870+1G>A rs2136610457
NM_001844.5(COL2A1):c.870+5G>A rs794727095
NM_001844.5(COL2A1):c.897G>A (p.Lys299=) rs1592229736
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001844.5(COL2A1):c.910G>T (p.Ala304Ser) rs984944183
NM_001844.5(COL2A1):c.925-49C>A rs41317905
NM_001844.5(COL2A1):c.953G>T (p.Gly318Val) rs2136607793

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